Prefix(:=) Prefix(owl:=) Prefix(rdf:=) Prefix(xml:=) Prefix(xsd:=) Prefix(rdfs:=) Ontology( Annotation( "--RGD OBO FILE GENERATOR -- build 2023-05-30 --"^^xsd:string) Annotation( "20:07:2024 20:13"^^xsd:string) Annotation( "rgd_disease_ontology"^^xsd:string) Annotation( "1.2"^^xsd:string) Annotation( "rgd"^^xsd:string) Annotation(rdfs:comment "In January of 2018, RGD transitioned from use of the Comparative Toxicogenomics Database's \"MEDIC\" vocabulary, based on a combination of the Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) disease vocabularies, to the use of the Human Disease Ontology (DO, see http://bioportal.bioontology.org/ontologies/DOID) as the basis of the disease ontology in use at RGD. As found on the RGD website and in RGD's ftp files, the DO has been supplemented with additional terms needed for curation at RGD to form the \"RGD Disease Ontology (RDO)\". An up-to-date copy of this ontology file is generated automatically from the RGD database and posted to the RGD ftp site at ftp://ftp.rgd.mcw.edu/pub/ontology/disease/ on a daily basis. Ontologies with ids in the format \"DOID:9xxxxxx\" have been added by RGD curators. 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) 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Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(ObjectProperty()) Declaration(ObjectProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty()) Declaration(AnnotationProperty(rdfs:comment)) Declaration(AnnotationProperty(rdfs:label)) ############################ # Annotation Properties ############################ # Annotation Property: (definition) AnnotationAssertion(rdfs:label "definition"^^xsd:string) # Annotation Property: () AnnotationAssertion(rdfs:comment "RGD_JBrowse_slim"^^xsd:string) SubAnnotationPropertyOf( ) # Annotation Property: (subset_property) AnnotationAssertion(rdfs:label "subset_property"^^xsd:string) # Annotation Property: (has_alternative_id) AnnotationAssertion(rdfs:label "has_alternative_id"^^xsd:string) # Annotation Property: (has_broad_synonym) AnnotationAssertion(rdfs:label "has_broad_synonym"^^xsd:string) # Annotation Property: (database_cross_reference) AnnotationAssertion(rdfs:label "database_cross_reference"^^xsd:string) # Annotation Property: (has_exact_synonym) AnnotationAssertion(rdfs:label "has_exact_synonym"^^xsd:string) # Annotation Property: (has_narrow_synonym) AnnotationAssertion(rdfs:label "has_narrow_synonym"^^xsd:string) # Annotation Property: (has_obo_format_version) AnnotationAssertion(rdfs:label "has_obo_format_version"^^xsd:string) # Annotation Property: (has_obo_namespace) AnnotationAssertion(rdfs:label "has_obo_namespace"^^xsd:string) # Annotation Property: (has_related_synonym) AnnotationAssertion(rdfs:label "has_related_synonym"^^xsd:string) # Annotation Property: (in_subset) AnnotationAssertion(rdfs:label "in_subset"^^xsd:string) ############################ # Classes ############################ # Class: (angiosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemangiosarcoma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Angiosarcoma"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23327728"^^xsd:string) "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)"^^xsd:string) AnnotationAssertion( "vascular sarcoma"^^xsd:string) AnnotationAssertion( "EFO:0003967"^^xsd:string) AnnotationAssertion( "EFO:0003968"^^xsd:string) AnnotationAssertion( "ICDO:9120/3"^^xsd:string) AnnotationAssertion( "MESH:D006394"^^xsd:string) AnnotationAssertion( "NCI:C122783"^^xsd:string) AnnotationAssertion( "NCI:C24016"^^xsd:string) AnnotationAssertion( "NCI:C3088"^^xsd:string) AnnotationAssertion( "NCI:C9275"^^xsd:string) AnnotationAssertion( "angiosarcomas"^^xsd:string) AnnotationAssertion( "hemangiosarcoma"^^xsd:string) AnnotationAssertion( "hemangiosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0001816"^^xsd:string) AnnotationAssertion(rdfs:label "angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pterygium) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pterygium_(conjunctiva)"^^xsd:string) "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000678"^^xsd:string) AnnotationAssertion( "MESH:D011625"^^xsd:string) AnnotationAssertion( "NCI:C133744"^^xsd:string) AnnotationAssertion( "pterygiums"^^xsd:string) AnnotationAssertion( "surfer's eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0002116"^^xsd:string) AnnotationAssertion(rdfs:label "pterygium"^^xsd:string) SubClassOf( ) # Class: (disease of metabolism) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK22259/"^^xsd:string) "A disease that involving errors in metabolic processes of building or degradation of molecules. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000589"^^xsd:string) AnnotationAssertion( "EFO:0011054"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.9"^^xsd:string) AnnotationAssertion( "ICD9CM:277.9"^^xsd:string) AnnotationAssertion( "MESH:D008659"^^xsd:string) AnnotationAssertion( "NCI:C3235"^^xsd:string) AnnotationAssertion( "metabolic disease"^^xsd:string) AnnotationAssertion( "metabolic diseases"^^xsd:string) AnnotationAssertion( "thesaurismoses"^^xsd:string) AnnotationAssertion( "thesaurismosis"^^xsd:string) AnnotationAssertion( "metabolic toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0014667"^^xsd:string) AnnotationAssertion(rdfs:label "disease of metabolism"^^xsd:string) SubClassOf( ) # Class: (shrimp allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20471069"^^xsd:string) "A crustacean allergy that has_allergic_trigger shrimp. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040001"^^xsd:string) AnnotationAssertion(rdfs:label "shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (aspirin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2468301"^^xsd:string) "A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO)"^^xsd:string) AnnotationAssertion( "ASA allergy"^^xsd:string) AnnotationAssertion( "acetylsalicylic acid allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040002"^^xsd:string) AnnotationAssertion(rdfs:label "aspirin allergy"^^xsd:string) SubClassOf( ) # Class: (benzylpenicillin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14483916"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO)"^^xsd:string) AnnotationAssertion( "benzyl penicillin allergy"^^xsd:string) AnnotationAssertion( "penicillin G allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040003"^^xsd:string) AnnotationAssertion(rdfs:label "benzylpenicillin allergy"^^xsd:string) SubClassOf( ) # Class: (amoxicillin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11746950"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040004"^^xsd:string) AnnotationAssertion(rdfs:label "amoxicillin allergy"^^xsd:string) SubClassOf( ) # Class: (ceftriaxone allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO)"^^xsd:string) AnnotationAssertion( "rocephin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040005"^^xsd:string) AnnotationAssertion(rdfs:label "ceftriaxone allergy"^^xsd:string) SubClassOf( ) # Class: (carbamazepine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string) "A drug allergy that has_allergic_trigger carbamazepine. (DO)"^^xsd:string) AnnotationAssertion( "carbamazepen allergy"^^xsd:string) AnnotationAssertion( "tegretol allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040006"^^xsd:string) AnnotationAssertion(rdfs:label "carbamazepine allergy"^^xsd:string) SubClassOf( ) # Class: (abacavir allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25674793"^^xsd:string) "A drug allergy that has_allergic_trigger abacavir. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007813"^^xsd:string) AnnotationAssertion( "MIM:142830"^^xsd:string) AnnotationAssertion( "ABC allergy"^^xsd:string) AnnotationAssertion( "Abacavir Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0040007"^^xsd:string) AnnotationAssertion(rdfs:label "abacavir allergy"^^xsd:string) SubClassOf( ) # Class: (isoniazide allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string) "A drug allergy that has_allergic_trigger isoniazide. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.1"^^xsd:string) AnnotationAssertion( "INH allergy"^^xsd:string) AnnotationAssertion( "isonicotinylhydrazide allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040008"^^xsd:string) AnnotationAssertion(rdfs:label "isoniazide allergy"^^xsd:string) SubClassOf( ) # Class: (lidocaine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9013953"^^xsd:string) "A drug allergy that has_allergic_trigger lidocaine. (DO)"^^xsd:string) AnnotationAssertion( "lidoderm allergy"^^xsd:string) AnnotationAssertion( "lignocaine allergy"^^xsd:string) AnnotationAssertion( "xylocaine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040009"^^xsd:string) AnnotationAssertion(rdfs:label "lidocaine allergy"^^xsd:string) SubClassOf( ) # Class: (mepivacaine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9989796"^^xsd:string) "A drug allergy that has_allergic_trigger mepivacaine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.4"^^xsd:string) AnnotationAssertion( "carbocaine allergy"^^xsd:string) AnnotationAssertion( "polocaine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040010"^^xsd:string) AnnotationAssertion(rdfs:label "mepivacaine allergy"^^xsd:string) SubClassOf( ) # Class: (phenobarbital allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11994495"^^xsd:string) "A drug allergy that has_allergic_trigger phenobarbital. (DO)"^^xsd:string) AnnotationAssertion( "luminal allergy"^^xsd:string) AnnotationAssertion( "phenobarbitol allergy"^^xsd:string) AnnotationAssertion( "phenobarbitone allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040011"^^xsd:string) AnnotationAssertion(rdfs:label "phenobarbital allergy"^^xsd:string) SubClassOf( ) # Class: (phenytoin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string) "A drug allergy that has_allergic_trigger phenytoin. (DO)"^^xsd:string) AnnotationAssertion( "dilantin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040012"^^xsd:string) AnnotationAssertion(rdfs:label "phenytoin allergy"^^xsd:string) SubClassOf( ) # Class: (ranitidine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7782125"^^xsd:string) "A drug allergy that has_allergic_trigger ranitidine. (DO)"^^xsd:string) AnnotationAssertion( "zantac allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040013"^^xsd:string) AnnotationAssertion(rdfs:label "ranitidine allergy"^^xsd:string) SubClassOf( ) # Class: (corticosteroid allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2265088"^^xsd:string) "A drug allergy that has_allergic_trigger corticosteroid. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040014"^^xsd:string) AnnotationAssertion(rdfs:label "corticosteroid allergy"^^xsd:string) SubClassOf( ) # Class: (sulfonamide allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2434548"^^xsd:string) "A drug allergy that has_allergic_trigger sulfonamide. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Z88.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040015"^^xsd:string) AnnotationAssertion(rdfs:label "sulfonamide allergy"^^xsd:string) SubClassOf( ) # Class: (sulfamethoxazole allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7602118"^^xsd:string) "A drug allergy that has_allergic_trigger sulfamethoxazole. (DO)"^^xsd:string) AnnotationAssertion( "SMX allergy"^^xsd:string) AnnotationAssertion( "SMZ allergy"^^xsd:string) AnnotationAssertion( "sulphamethoxazole allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040016"^^xsd:string) AnnotationAssertion(rdfs:label "sulfamethoxazole allergy"^^xsd:string) SubClassOf( ) # Class: (suprofen allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/509935"^^xsd:string) "A drug allergy that has_allergic_trigger suprofen. (DO)"^^xsd:string) AnnotationAssertion( "Profenal allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040017"^^xsd:string) AnnotationAssertion(rdfs:label "suprofen allergy"^^xsd:string) SubClassOf( ) # Class: (thiopental allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string) "A drug allergy that has_allergic_trigger thiopental. (DO)"^^xsd:string) AnnotationAssertion( "penthiobarbital allergy"^^xsd:string) AnnotationAssertion( "pentothiobarbital allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040018"^^xsd:string) AnnotationAssertion(rdfs:label "thiopental allergy"^^xsd:string) SubClassOf( ) # Class: (D-mannitol allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15479277"^^xsd:string) "A drug allergy that has_allergic_trigger D-mannitol. (DO)"^^xsd:string) AnnotationAssertion( "mannitol allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040019"^^xsd:string) AnnotationAssertion(rdfs:label "D-mannitol allergy"^^xsd:string) SubClassOf( ) # Class: (cefotaxime allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040020"^^xsd:string) AnnotationAssertion(rdfs:label "cefotaxime allergy"^^xsd:string) SubClassOf( ) # Class: (cephalosporin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2083978"^^xsd:string) "A drug allergy that has_allergic_trigger cephalosporin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040021"^^xsd:string) AnnotationAssertion(rdfs:label "cephalosporin allergy"^^xsd:string) SubClassOf( ) # Class: (amodiaquine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1959977"^^xsd:string) "A drug allergy that has_allergic_trigger amodiaquine. (DO)"^^xsd:string) AnnotationAssertion( "Camoquin allergy"^^xsd:string) AnnotationAssertion( "Flavoquine allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040022"^^xsd:string) AnnotationAssertion(rdfs:label "amodiaquine allergy"^^xsd:string) SubClassOf( ) # Class: (cefaclor allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12569987"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefaclor. (DO)"^^xsd:string) AnnotationAssertion( "ceclor allergy"^^xsd:string) AnnotationAssertion( "cephaclor allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040023"^^xsd:string) AnnotationAssertion(rdfs:label "cefaclor allergy"^^xsd:string) SubClassOf( ) # Class: (ceftazidime allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO)"^^xsd:string) AnnotationAssertion( "Fortaz allergy"^^xsd:string) AnnotationAssertion( "Tazicef allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040024"^^xsd:string) AnnotationAssertion(rdfs:label "ceftazidime allergy"^^xsd:string) SubClassOf( ) # Class: (cefuroxime allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12833570"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO)"^^xsd:string) AnnotationAssertion( "Zinacef allergy"^^xsd:string) AnnotationAssertion( "cephuroxime allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040025"^^xsd:string) AnnotationAssertion(rdfs:label "cefuroxime allergy"^^xsd:string) SubClassOf( ) # Class: (chlorhexidine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10848923"^^xsd:string) "A drug allergy that has_allergic_trigger chlorhexidine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040026"^^xsd:string) AnnotationAssertion(rdfs:label "chlorhexidine allergy"^^xsd:string) SubClassOf( ) # Class: (cyclophosphamide allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8024619"^^xsd:string) "A drug allergy that has_allergic_trigger cyclophosphamide. (DO)"^^xsd:string) AnnotationAssertion( "cytophosphane allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040027"^^xsd:string) AnnotationAssertion(rdfs:label "cyclophosphamide allergy"^^xsd:string) SubClassOf( ) # Class: (succinylcholine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2410473"^^xsd:string) "A drug allergy that has_allergic_trigger succinylcholine. (DO)"^^xsd:string) AnnotationAssertion( "dicholine succinate allergy"^^xsd:string) AnnotationAssertion( "succinocholine allergy"^^xsd:string) AnnotationAssertion( "sux allergy"^^xsd:string) AnnotationAssertion( "suxamethonium allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040028"^^xsd:string) AnnotationAssertion(rdfs:label "succinylcholine allergy"^^xsd:string) SubClassOf( ) # Class: (trimethoprim allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3377143"^^xsd:string) "A drug allergy that has_allergic_trigger trimethoprim. (DO)"^^xsd:string) AnnotationAssertion( "Primsol allergy"^^xsd:string) AnnotationAssertion( "TMP allergy"^^xsd:string) AnnotationAssertion( "proloprim allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040029"^^xsd:string) AnnotationAssertion(rdfs:label "trimethoprim allergy"^^xsd:string) SubClassOf( ) # Class: (cefixime allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16867046"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefixime. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040030"^^xsd:string) AnnotationAssertion(rdfs:label "cefixime allergy"^^xsd:string) SubClassOf( ) # Class: (diclofenac allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21060839"^^xsd:string) "A drug allergy that has_allergic_trigger diclofenac. (DO)"^^xsd:string) AnnotationAssertion( "Voltaren allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040031"^^xsd:string) AnnotationAssertion(rdfs:label "diclofenac allergy"^^xsd:string) SubClassOf( ) # Class: (carbapenem allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2457043"^^xsd:string) "A drug allergy that has_allergic_trigger carbapenems. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040032"^^xsd:string) AnnotationAssertion(rdfs:label "carbapenem allergy"^^xsd:string) SubClassOf( ) # Class: (piperacillin allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21532862"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger piperacillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040033"^^xsd:string) AnnotationAssertion(rdfs:label "piperacillin allergy"^^xsd:string) SubClassOf( ) # Class: (rocuronium allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17667569"^^xsd:string) "A drug allergy that has_allergic_trigger rocuronium. (DO)"^^xsd:string) AnnotationAssertion( "Esmeron allergy"^^xsd:string) AnnotationAssertion( "Zemuron allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040034"^^xsd:string) AnnotationAssertion(rdfs:label "rocuronium allergy"^^xsd:string) SubClassOf( ) # Class: (sulfasalazine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2434548"^^xsd:string) "A drug allergy that has_allergic_trigger sulfasalazine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040035"^^xsd:string) AnnotationAssertion(rdfs:label "sulfasalazine allergy"^^xsd:string) SubClassOf( ) # Class: (tubocurarine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string) "A drug allergy that has_allergic_trigger tubocurarine. (DO)"^^xsd:string) AnnotationAssertion( "DTC allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040036"^^xsd:string) AnnotationAssertion(rdfs:label "tubocurarine allergy"^^xsd:string) SubClassOf( ) # Class: (aztreonam allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1991925"^^xsd:string) "A beta-lactam allergy that has_allergic_trigger aztreonam. (DO)"^^xsd:string) AnnotationAssertion( "Azactam allergy"^^xsd:string) AnnotationAssertion( "Primbactam allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040037"^^xsd:string) AnnotationAssertion(rdfs:label "aztreonam allergy"^^xsd:string) SubClassOf( ) # Class: (meropenem allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23668298"^^xsd:string) "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO)"^^xsd:string) AnnotationAssertion( "Merrem allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040038"^^xsd:string) AnnotationAssertion(rdfs:label "meropenem allergy"^^xsd:string) SubClassOf( ) # Class: (hexamethylene diisocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8711735"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to HDI"^^xsd:string) AnnotationAssertion( "allergic asthma to HMDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040040"^^xsd:string) AnnotationAssertion(rdfs:label "hexamethylene diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (isocyanates allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3349596"^^xsd:string) "An allergic asthma that has_allergic_trigger isocyanates. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040041"^^xsd:string) AnnotationAssertion(rdfs:label "isocyanates allergic asthma"^^xsd:string) SubClassOf( ) # Class: (diphenylmethane-4,4'-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8711735"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040042"^^xsd:string) AnnotationAssertion(rdfs:label "diphenylmethane-4,4'-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (toluene meta-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11289402"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to TDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040043"^^xsd:string) AnnotationAssertion(rdfs:label "toluene meta-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (methyl isocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3622432"^^xsd:string) "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040044"^^xsd:string) AnnotationAssertion(rdfs:label "methyl isocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (nickel allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6691936"^^xsd:string) "An allergic asthma that has_allergic_trigger nickel atom. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to Ni"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040045"^^xsd:string) AnnotationAssertion(rdfs:label "nickel allergic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nickel allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7671317"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005320"^^xsd:string) AnnotationAssertion( "ICD10CM:L23.0"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Ni"^^xsd:string) AnnotationAssertion( "contact dermatitis due to nickel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040046"^^xsd:string) AnnotationAssertion(rdfs:label "nickel allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trimellitic anhydride allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6643876"^^xsd:string) "An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to TMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040047"^^xsd:string) AnnotationAssertion(rdfs:label "trimellitic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (phthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger phthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040048"^^xsd:string) AnnotationAssertion(rdfs:label "phthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (maleic anhydride allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger maleic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to MA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040049"^^xsd:string) AnnotationAssertion(rdfs:label "maleic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (tetrachlorophthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3711550"^^xsd:string) "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040050"^^xsd:string) AnnotationAssertion(rdfs:label "tetrachlorophthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (hexahydrophthalic anhydride allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4008795"^^xsd:string) "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO)"^^xsd:string) AnnotationAssertion( "allergic asthma to HHPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040051"^^xsd:string) AnnotationAssertion(rdfs:label "hexahydrophthalic anhydride allergic asthma"^^xsd:string) SubClassOf( ) # Class: (diphenylmethane-4,4'-diisocyanate allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6296214"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to MDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040052"^^xsd:string) AnnotationAssertion(rdfs:label "diphenylmethane-4,4'-diisocyanate allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (cobalt allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8566016"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Co"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040053"^^xsd:string) AnnotationAssertion(rdfs:label "cobalt allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cobalt allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7444839"^^xsd:string) "An allergic asthma that has_allergic_trigger cobalt atom. (DO)"^^xsd:string) AnnotationAssertion( "Co allergic asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040054"^^xsd:string) AnnotationAssertion(rdfs:label "cobalt allergic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palladium allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25097477"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger palladium. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to Pd"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040055"^^xsd:string) AnnotationAssertion(rdfs:label "palladium allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromium allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1108802"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040056"^^xsd:string) AnnotationAssertion(rdfs:label "chromium allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benzoic acid allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25097477"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to benzoate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040057"^^xsd:string) AnnotationAssertion(rdfs:label "benzoic acid allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (1,4-phenylenediamine allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8400900"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to PPD"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to p-phenylenediamine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040058"^^xsd:string) AnnotationAssertion(rdfs:label "1,4-phenylenediamine allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (potassium dichromate allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15462465"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040059"^^xsd:string) AnnotationAssertion(rdfs:label "potassium dichromate allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ketoprofen photoallergic dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11169173"^^xsd:string) "A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO)"^^xsd:string) AnnotationAssertion( "photoallergic dermatitis to orudis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040060"^^xsd:string) AnnotationAssertion(rdfs:label "ketoprofen photoallergic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (remazole black respiratory allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2312995"^^xsd:string) "A respiratory allergy that has_allergic_trigger remazole black-GR. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to Reactive Black 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040061"^^xsd:string) AnnotationAssertion(rdfs:label "remazole black respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chloramine T respiratory allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2758361"^^xsd:string) "A respiratory allergy that has_allergic_trigger chloramine T. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to Chloraseptin"^^xsd:string) AnnotationAssertion( "respiratory allergy to Chlorazol"^^xsd:string) AnnotationAssertion( "respiratory allergy to Trichlorol"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040062"^^xsd:string) AnnotationAssertion(rdfs:label "chloramine T respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (4-vinylcyclohexene dioxide respiratory allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3356477"^^xsd:string) "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)"^^xsd:string) AnnotationAssertion( "respiratory allergy to vinyl cyclohexene diepoxide"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040063"^^xsd:string) AnnotationAssertion(rdfs:label "4-vinylcyclohexene dioxide respiratory allergy"^^xsd:string) SubClassOf( ) # Class: (carvone allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11380545"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to levo-carvone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040064"^^xsd:string) AnnotationAssertion(rdfs:label "carvone allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (quinidine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string) "A drug allergy that has_allergic_trigger quinidine. (DO)"^^xsd:string) AnnotationAssertion( "Kinidin allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040065"^^xsd:string) AnnotationAssertion(rdfs:label "quinidine allergy"^^xsd:string) SubClassOf( ) # Class: (melphalan allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string) "A drug allergy that has_allergic_trigger melphalan. (DO)"^^xsd:string) AnnotationAssertion( "Alkeran allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040066"^^xsd:string) AnnotationAssertion(rdfs:label "melphalan allergy"^^xsd:string) SubClassOf( ) # Class: (neomycin sulfate allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21616561"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to neomycin sulphate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040067"^^xsd:string) AnnotationAssertion(rdfs:label "neomycin sulfate allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (4-tert-butylphenol allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8462290"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to PTBP"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to butylphen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040068"^^xsd:string) AnnotationAssertion(rdfs:label "4-tert-butylphenol allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (1-chloro-2,4-dinitrobenzene allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17008874"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to DNCB"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to dinitrochlorobenzene"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040069"^^xsd:string) AnnotationAssertion(rdfs:label "1-chloro-2,4-dinitrobenzene allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (co-trimoxazole allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string) "A drug allergy that has_allergic_trigger co-trimoxazole. (DO)"^^xsd:string) AnnotationAssertion( "Bactrim allergy"^^xsd:string) AnnotationAssertion( "TMP/SMX allergy"^^xsd:string) AnnotationAssertion( "cotrimoxazol allergy"^^xsd:string) AnnotationAssertion( "trimethoprim/sulfamethoxazole allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040070"^^xsd:string) AnnotationAssertion(rdfs:label "co-trimoxazole allergy"^^xsd:string) SubClassOf( ) # Class: (sodium aurothiomalate allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/445303"^^xsd:string) "A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-14T12:24:56Z"^^xsd:string) AnnotationAssertion( "gold sodium thiomalate allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040071"^^xsd:string) AnnotationAssertion(rdfs:label "sodium aurothiomalate allergy"^^xsd:string) SubClassOf( ) # Class: (parthenolide allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17986299"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to feverfew"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040072"^^xsd:string) AnnotationAssertion(rdfs:label "parthenolide allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (disodium cromoglycate allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3128591"^^xsd:string) "A drug allergy that has_allergic_trigger disodium cromoglycate. (DO)"^^xsd:string) AnnotationAssertion( "DSCG allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040073"^^xsd:string) AnnotationAssertion(rdfs:label "disodium cromoglycate allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (formaldehyde allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7902023"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to formalin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040074"^^xsd:string) AnnotationAssertion(rdfs:label "formaldehyde allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (benzo[d]isothiazol-3-one allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6446435"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to BIT"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to benzisothiazolone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040075"^^xsd:string) AnnotationAssertion(rdfs:label "benzo[d]isothiazol-3-one allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (phthalyl group allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7400667"^^xsd:string) "A drug allergy that has_allergic_trigger phthalyl group. (DO)"^^xsd:string) AnnotationAssertion( "phthalyl allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040076"^^xsd:string) AnnotationAssertion(rdfs:label "phthalyl group allergy"^^xsd:string) SubClassOf( ) # Class: (alcuronium bromide allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string) "A drug allergy that has_allergic_trigger alcuronium bromide. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040077"^^xsd:string) AnnotationAssertion(rdfs:label "alcuronium bromide allergy"^^xsd:string) SubClassOf( ) # Class: (gallamine allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2215478"^^xsd:string) "A drug allergy that has_allergic_trigger gallamine. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040078"^^xsd:string) AnnotationAssertion(rdfs:label "gallamine allergy"^^xsd:string) SubClassOf( ) # Class: (2,4-dinitrophenyl allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17008874"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO)"^^xsd:string) AnnotationAssertion( "allergic contact dermatitis to DNP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040079"^^xsd:string) AnnotationAssertion(rdfs:label "2,4-dinitrophenyl allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (patent blue V allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19804438"^^xsd:string) "A drug allergy that has_allergic_trigger patent blue V. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040080"^^xsd:string) AnnotationAssertion(rdfs:label "patent blue V allergy"^^xsd:string) SubClassOf( ) # Class: (acid anhydride respiratory allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6643876"^^xsd:string) "A respiratory allergy that has_allergic_trigger acid anhydride. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040081"^^xsd:string) AnnotationAssertion(rdfs:label "acid anhydride respiratory allergy"^^xsd:string) SubClassOf( ) # Class: (oxirane allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3932500"^^xsd:string) "A drug allergy that has_allergic_trigger oxirane. (DO)"^^xsd:string) AnnotationAssertion( "ETO allergy"^^xsd:string) AnnotationAssertion( "ethylene oxide allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040082"^^xsd:string) AnnotationAssertion(rdfs:label "oxirane allergy"^^xsd:string) SubClassOf( ) # Class: (Chlamydia pneumonia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16831205"^^xsd:string) "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J16.0"^^xsd:string) AnnotationAssertion( "ICD9CM:483.1"^^xsd:string) AnnotationAssertion( "MESH:D061387"^^xsd:string) AnnotationAssertion( "Chlamydial Pneumonia"^^xsd:string) AnnotationAssertion( "Chlamydial Pneumonias"^^xsd:string) AnnotationAssertion( "chlamydophila pneumonia"^^xsd:string) AnnotationAssertion( "chlamydophila pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040083"^^xsd:string) AnnotationAssertion(rdfs:label "Chlamydia pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Streptococcus pneumonia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26396191"^^xsd:string) "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007499"^^xsd:string) AnnotationAssertion( "ICD10CM:J13"^^xsd:string) AnnotationAssertion( "ICD9CM:481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040084"^^xsd:string) AnnotationAssertion(rdfs:label "Streptococcus pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bacterial sepsis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20421654"^^xsd:string) "A bacterial infectious disease has_material_basis_in Bacteria. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:995.91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040085"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial sepsis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyomavirus-associated nephropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16537617"^^xsd:string) "A viral infectious disease has_material_basis_in BK polyomavirus. (DO)"^^xsd:string) AnnotationAssertion( "PVAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040086"^^xsd:string) AnnotationAssertion(rdfs:label "polyomavirus-associated nephropathy"^^xsd:string) SubClassOf( ) # Class: (autoimmune peripheral neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7693874"^^xsd:string) "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040087"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune peripheral neuropathy"^^xsd:string) SubClassOf( ) # Class: (autoimmune uveitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12938234"^^xsd:string) "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040088"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune optic neuritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7516573"^^xsd:string) "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040089"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune optic neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune gastritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12645953"^^xsd:string) "An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040090"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune pancreatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19940298"^^xsd:string) "An autoimmune disease of endocrine system that is located_in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000780"^^xsd:string) AnnotationAssertion( "MESH:D000081012"^^xsd:string) AnnotationAssertion( "Idiopathic Duct-centric Pancreatitis"^^xsd:string) AnnotationAssertion( "IgG4-related Pancreatitis"^^xsd:string) AnnotationAssertion( "Type 1 Autoimmune Pancreatitis"^^xsd:string) AnnotationAssertion( "Type 2 Autoimmune Pancreatitis"^^xsd:string) AnnotationAssertion( "type 1 AIP"^^xsd:string) AnnotationAssertion( "type 2 AIP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040091"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile ankylosing spondylitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7541736"^^xsd:string) "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M08.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040092"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile ankylosing spondylitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (drug-induced lupus erythematosus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1378852"^^xsd:string) "A lupus erythematosus caused by chronic use of certain drugs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M32.0"^^xsd:string) AnnotationAssertion( "NCI:C114354"^^xsd:string) AnnotationAssertion( "ORDO:231111"^^xsd:string) AnnotationAssertion( "DIL"^^xsd:string) AnnotationAssertion( "DILE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040093"^^xsd:string) AnnotationAssertion(rdfs:label "drug-induced lupus erythematosus"^^xsd:string) SubClassOf( ) # Class: (autoimmune glomerulonephritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8809141"^^xsd:string) "An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040094"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (autoimmune cardiomyopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10762456"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040095"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune atherosclerosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17097662"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040096"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune atherosclerosis"^^xsd:string) SubClassOf( ) # Class: (autoimmune vasculitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23549081"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040097"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune vasculitis"^^xsd:string) SubClassOf( ) # Class: (pemphigus gestationis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16552711"^^xsd:string) "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000709"^^xsd:string) AnnotationAssertion( "ICD10CM:O26.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040098"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus gestationis"^^xsd:string) SubClassOf( ) # Class: (livedoid vasculitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10925314"^^xsd:string) "A vasculitis with purpuric ulcers. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L95.0"^^xsd:string) AnnotationAssertion( "MESH:D000090122"^^xsd:string) AnnotationAssertion( "Idiopathic Atrophic Blanche"^^xsd:string) AnnotationAssertion( "Livedo Vasculitis"^^xsd:string) AnnotationAssertion( "White Atrophy"^^xsd:string) AnnotationAssertion( "livedo reticularis with summer ulceration"^^xsd:string) AnnotationAssertion( "livedoid vasculopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040099"^^xsd:string) AnnotationAssertion(rdfs:label "livedoid vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hirata disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10445096"^^xsd:string) "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO)"^^xsd:string) AnnotationAssertion( "insulin autoimmune syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040100"^^xsd:string) AnnotationAssertion(rdfs:label "Hirata disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (N,N'-diphenylthiourea allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28295200"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO)"^^xsd:string) AnnotationAssertion( "neoprene allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040101"^^xsd:string) AnnotationAssertion(rdfs:label "N,N'-diphenylthiourea allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (N,N'-diethylthiourea allergic contact dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28295200"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-06-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "neoprene allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040102"^^xsd:string) AnnotationAssertion(rdfs:label "N,N'-diethylthiourea allergic contact dermatitis"^^xsd:string) SubClassOf( ) # Class: (cefotiam allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28543395"^^xsd:string) "A cephalosporin allergy that has_allergic_trigger cefotiam. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040103"^^xsd:string) AnnotationAssertion(rdfs:label "cefotiam allergy"^^xsd:string) SubClassOf( ) # Class: (toluene 2,4-diisocyanate allergic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/"^^xsd:string) "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0040104"^^xsd:string) AnnotationAssertion(rdfs:label "toluene 2,4-diisocyanate allergic asthma"^^xsd:string) SubClassOf( ) # Class: (seminal vesicle acute gonorrhea) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation"^^xsd:string) "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050004"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle acute gonorrhea"^^xsd:string) SubClassOf( ) # Class: (chikungunya) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chikungunya_virus"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6038"^^xsd:string) AnnotationAssertion( "MESH:D065632"^^xsd:string) AnnotationAssertion( "Chikungunya Fevers"^^xsd:string) AnnotationAssertion( "Chikungunya Virus Infection"^^xsd:string) AnnotationAssertion( "Chikungunya Virus Infections"^^xsd:string) AnnotationAssertion( "chikungunya fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050012"^^xsd:string) AnnotationAssertion(rdfs:label "chikungunya"^^xsd:string) SubClassOf( ) # Class: (human granulocytic anaplasmosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25999228"^^xsd:string) "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000777"^^xsd:string) AnnotationAssertion( "HGE"^^xsd:string) AnnotationAssertion( "human granulocytic ehrlichiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050025"^^xsd:string) AnnotationAssertion(rdfs:label "human granulocytic anaplasmosis"^^xsd:string) SubClassOf( ) # Class: (human monocytic ehrlichiosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/"^^xsd:string) "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ehrlichiosis chafeensis"^^xsd:string) AnnotationAssertion( "DOID:0050026"^^xsd:string) AnnotationAssertion(rdfs:label "human monocytic ehrlichiosis"^^xsd:string) SubClassOf( ) # Class: (mineral metabolism disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html"^^xsd:string) "An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009556"^^xsd:string) AnnotationAssertion( "RDO:9003951"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050032"^^xsd:string) AnnotationAssertion(rdfs:label "mineral metabolism disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (African tick-bite fever) AnnotationAssertion(Annotation( "http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia africae spotted fever"^^xsd:string) AnnotationAssertion( "South African tick-bite fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050035"^^xsd:string) AnnotationAssertion(rdfs:label "African tick-bite fever"^^xsd:string) SubClassOf( ) # Class: (Astrakhan spotted fever) AnnotationAssertion(Annotation( "http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050041"^^xsd:string) AnnotationAssertion(rdfs:label "Astrakhan spotted fever"^^xsd:string) SubClassOf( ) # Class: (Indian tick typhus) AnnotationAssertion(Annotation( "http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050042"^^xsd:string) AnnotationAssertion(rdfs:label "Indian tick typhus"^^xsd:string) SubClassOf( ) # Class: (Israeli tick typhus) AnnotationAssertion(Annotation( "http://www.biomedcentral.com/1471-2180/5/11"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Israeli spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050043"^^xsd:string) AnnotationAssertion(rdfs:label "Israeli tick typhus"^^xsd:string) SubClassOf( ) # Class: (Far Eastern spotted fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia heilongjiangensis spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050046"^^xsd:string) AnnotationAssertion(rdfs:label "Far Eastern spotted fever"^^xsd:string) SubClassOf( ) # Class: (Flinders Island spotted fever) AnnotationAssertion(Annotation( "https://www.cdc.gov/otherspottedfever/imported/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "FISF"^^xsd:string) AnnotationAssertion( "Thai tick typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050047"^^xsd:string) AnnotationAssertion(rdfs:label "Flinders Island spotted fever"^^xsd:string) SubClassOf( ) # Class: (Japanese spotted fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia japonica spotted fever"^^xsd:string) AnnotationAssertion( "oriental spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050050"^^xsd:string) AnnotationAssertion(rdfs:label "Japanese spotted fever"^^xsd:string) SubClassOf( ) # Class: (Rickettsia parkeri spotted fever) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "maculatum infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050051"^^xsd:string) AnnotationAssertion(rdfs:label "Rickettsia parkeri spotted fever"^^xsd:string) SubClassOf( ) # Class: (Rocky Mountain spotted fever) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7585"^^xsd:string) AnnotationAssertion( "MESH:D012373"^^xsd:string) AnnotationAssertion( "Sao Paulo Typhus"^^xsd:string) AnnotationAssertion( "Tick typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brazilian spotted"^^xsd:string) AnnotationAssertion( "Choix"^^xsd:string) AnnotationAssertion( "Exanthematic typhus of Sao Paulo"^^xsd:string) AnnotationAssertion( "Fiebre maculosa"^^xsd:string) AnnotationAssertion( "Fiebre manchada"^^xsd:string) AnnotationAssertion( "So Paulo fever"^^xsd:string) AnnotationAssertion( "Tobia fever"^^xsd:string) AnnotationAssertion( "DOID:0050052"^^xsd:string) AnnotationAssertion(rdfs:label "Rocky Mountain spotted fever"^^xsd:string) SubClassOf( ) # Class: (oropharyngeal anthrax) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3934300"^^xsd:string) "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050059"^^xsd:string) AnnotationAssertion(rdfs:label "oropharyngeal anthrax"^^xsd:string) SubClassOf( ) # Class: (erysipeloid) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erysipeloid"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000928"^^xsd:string) AnnotationAssertion( "MESH:D004887"^^xsd:string) AnnotationAssertion( "Erysipelothrix rhusiopathiae infectious disease"^^xsd:string) AnnotationAssertion( "erysipeloids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050061"^^xsd:string) AnnotationAssertion(rdfs:label "erysipeloid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (adiaspiromycosis) AnnotationAssertion(Annotation( "http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract"^^xsd:string) "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C000656784"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050072"^^xsd:string) AnnotationAssertion(rdfs:label "adiaspiromycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (invasive aspergillosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string) "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D055732"^^xsd:string) AnnotationAssertion( "Aspergilloses, Lung"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergillose"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergilloses"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Aspergillosis"^^xsd:string) AnnotationAssertion( "Lung Aspergillosis"^^xsd:string) AnnotationAssertion( "pulmonary aspergilloses"^^xsd:string) AnnotationAssertion( "pulmonary aspergillosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050073"^^xsd:string) AnnotationAssertion(rdfs:label "invasive aspergillosis"^^xsd:string) SubClassOf( ) # Class: (Keshan disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Keshan_disease"^^xsd:string) "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8761"^^xsd:string) AnnotationAssertion( "MESH:C536166"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050083"^^xsd:string) AnnotationAssertion(rdfs:label "Keshan disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tinea barbae) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae"^^xsd:string) "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C000656825"^^xsd:string) AnnotationAssertion( "barber's itch"^^xsd:string) AnnotationAssertion( "beard ringworm"^^xsd:string) AnnotationAssertion( "dermatophytosis of beard"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050096"^^xsd:string) AnnotationAssertion(rdfs:label "tinea barbae"^^xsd:string) SubClassOf( ) # Class: (ectothrix infectious disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis"^^xsd:string) "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050097"^^xsd:string) AnnotationAssertion(rdfs:label "ectothrix infectious disease"^^xsd:string) SubClassOf( ) # Class: (endothrix infectious disease) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/"^^xsd:string) "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050105"^^xsd:string) AnnotationAssertion(rdfs:label "endothrix infectious disease"^^xsd:string) SubClassOf( ) # Class: (tinea imbricata) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata"^^xsd:string) "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:275240"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "tinea imbricata, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050116"^^xsd:string) AnnotationAssertion(rdfs:label "tinea imbricata"^^xsd:string) SubClassOf( ) # Class: (disease by infectious agent) AnnotationAssertion(Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726"^^xsd:string) "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000544"^^xsd:string) AnnotationAssertion( "EFO:0005741"^^xsd:string) AnnotationAssertion( "ICD9CM:079.0"^^xsd:string) AnnotationAssertion( "MESH:D003141"^^xsd:string) AnnotationAssertion( "MESH:D007239"^^xsd:string) AnnotationAssertion( "communicable disease"^^xsd:string) AnnotationAssertion( "communicable diseases"^^xsd:string) AnnotationAssertion( "infection"^^xsd:string) AnnotationAssertion( "infections"^^xsd:string) AnnotationAssertion( "infectious disease"^^xsd:string) AnnotationAssertion( "infectious diseases"^^xsd:string) AnnotationAssertion( "recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050117"^^xsd:string) AnnotationAssertion(rdfs:label "disease by infectious agent"^^xsd:string) SubClassOf( ) # Class: (La Crosse encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.5"^^xsd:string) AnnotationAssertion( "ICD9CM:062.5"^^xsd:string) AnnotationAssertion( "MESH:D004670"^^xsd:string) AnnotationAssertion( "California encephalitis"^^xsd:string) AnnotationAssertion( "California viral encephalitides"^^xsd:string) AnnotationAssertion( "California viral encephalitis"^^xsd:string) AnnotationAssertion( "California virus encephalitis"^^xsd:string) AnnotationAssertion( "neuroinvasive California encephalitis virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050118"^^xsd:string) AnnotationAssertion(rdfs:label "La Crosse encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemophagocytic lymphohistiocytosis) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis"^^xsd:string) Annotation( "http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso"^^xsd:string) "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6589"^^xsd:string) AnnotationAssertion( "ICD10CM:D76.1"^^xsd:string) AnnotationAssertion( "MESH:D051359"^^xsd:string) AnnotationAssertion( "MIM:PS267700"^^xsd:string) AnnotationAssertion( "NCI:C34792"^^xsd:string) AnnotationAssertion( "ORDO:540"^^xsd:string) AnnotationAssertion( "HPLH"^^xsd:string) AnnotationAssertion( "HPS"^^xsd:string) AnnotationAssertion( "haemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "hemophagocytic lymphohistiocytoses"^^xsd:string) AnnotationAssertion( "hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "hemophagocytic syndromes"^^xsd:string) AnnotationAssertion( "infection-associated hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "primary hemophagocytic hymphohistiocytosis"^^xsd:string) AnnotationAssertion( "primary hemophagocytic lymphohistiocytosis"^^xsd:string) AnnotationAssertion( "reactive hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050120"^^xsd:string) AnnotationAssertion(rdfs:label "hemophagocytic lymphohistiocytosis"^^xsd:string) SubClassOf( ) # Class: (dengue shock syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dengue_shock_syndrome"^^xsd:string) "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050125"^^xsd:string) AnnotationAssertion(rdfs:label "dengue shock syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null"^^xsd:string) "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007486"^^xsd:string) AnnotationAssertion( "ICD10CM:J01"^^xsd:string) AnnotationAssertion( "ICD9CM:461"^^xsd:string) AnnotationAssertion( "MESH:D012852"^^xsd:string) AnnotationAssertion( "NCI:C128411"^^xsd:string) AnnotationAssertion( "Sinusitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050127"^^xsd:string) AnnotationAssertion(rdfs:label "sinusitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (secretory diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050129"^^xsd:string) AnnotationAssertion(rdfs:label "secretory diarrhea"^^xsd:string) SubClassOf( ) # Class: (osmotic diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050130"^^xsd:string) AnnotationAssertion(rdfs:label "osmotic diarrhea"^^xsd:string) SubClassOf( ) # Class: (motility-related diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050131"^^xsd:string) AnnotationAssertion(rdfs:label "motility-related diarrhea"^^xsd:string) SubClassOf( ) # Class: (inflammatory diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050132"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory diarrhea"^^xsd:string) SubClassOf( ) # Class: (superficial mycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mycoses"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string) "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.9"^^xsd:string) AnnotationAssertion( "MESH:D010854"^^xsd:string) AnnotationAssertion( "piedra"^^xsd:string) AnnotationAssertion( "piedras"^^xsd:string) AnnotationAssertion( "steroid-modified tinea infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050133"^^xsd:string) AnnotationAssertion(rdfs:label "superficial mycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous mycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mycoses"^^xsd:string) Annotation( "http://jama.ama-assn.org/cgi/reprint/61/6/407"^^xsd:string) "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050134"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous mycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subcutaneous mycosis) AnnotationAssertion(Annotation( "https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses"^^xsd:string) "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000255"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050135"^^xsd:string) AnnotationAssertion(rdfs:label "subcutaneous mycosis"^^xsd:string) SubClassOf( ) # Class: (systemic mycosis) AnnotationAssertion(Annotation( "http://dermnetnz.org/fungal/systemic-mycoses.html"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006"^^xsd:string) "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050136"^^xsd:string) AnnotationAssertion(rdfs:label "systemic mycosis"^^xsd:string) SubClassOf( ) # Class: (podoconiosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Podoconiosis"^^xsd:string) "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004712"^^xsd:string) AnnotationAssertion( "MIM:614590"^^xsd:string) AnnotationAssertion( "PDCOS"^^xsd:string) AnnotationAssertion( "mossy foot"^^xsd:string) AnnotationAssertion( "non-filarial elephantiasis"^^xsd:string) AnnotationAssertion( "podoconioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050138"^^xsd:string) AnnotationAssertion(rdfs:label "podoconiosis"^^xsd:string) SubClassOf( ) # Class: (acute diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea"^^xsd:string) "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050140"^^xsd:string) AnnotationAssertion(rdfs:label "acute diarrhea"^^xsd:string) SubClassOf( ) # Class: (intestinal botulism) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string) Annotation( "https://jnnp.bmj.com/content/75/suppl_3/iii35"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050141"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal botulism"^^xsd:string) SubClassOf( ) # Class: (asymptomatic dengue) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28107858/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29111183/"^^xsd:string) "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050143"^^xsd:string) AnnotationAssertion(rdfs:label "asymptomatic dengue"^^xsd:string) SubClassOf( ) # Class: (Kartagener syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome"^^xsd:string) Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19529061"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23243352"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24019633"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25633235"^^xsd:string) "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001352"^^xsd:string) AnnotationAssertion( "GARD:6815"^^xsd:string) AnnotationAssertion( "MESH:D007619"^^xsd:string) AnnotationAssertion( "NCI:C84797"^^xsd:string) AnnotationAssertion( "ORDO:98861"^^xsd:string) AnnotationAssertion( "Kartagener triad"^^xsd:string) AnnotationAssertion( "Kartagener's Triad"^^xsd:string) AnnotationAssertion( "Kartagener's syndrome"^^xsd:string) AnnotationAssertion( "Kartageners syndrome"^^xsd:string) AnnotationAssertion( "Kartageners triad"^^xsd:string) AnnotationAssertion( "Siewert syndrome"^^xsd:string) AnnotationAssertion( "dextrocardia, bronchiectasis, and sinusitis"^^xsd:string) AnnotationAssertion( "immotile cilia syndrome, Kartagener type"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia, Kartagener type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050144"^^xsd:string) AnnotationAssertion(rdfs:label "Kartagener syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adenoiditis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenoiditis"^^xsd:string) "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J35.02"^^xsd:string) AnnotationAssertion( "ICD9CM:474.01"^^xsd:string) AnnotationAssertion( "RDO:9004975"^^xsd:string) AnnotationAssertion( "chronic adenoiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050145"^^xsd:string) AnnotationAssertion(rdfs:label "adenoiditis"^^xsd:string) SubClassOf( ) # Class: (otomycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otomycosis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis"^^xsd:string) "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D059249"^^xsd:string) AnnotationAssertion( "Singapore ear"^^xsd:string) AnnotationAssertion( "otomycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050147"^^xsd:string) AnnotationAssertion(rdfs:label "otomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngotracheitis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis"^^xsd:string) "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J04"^^xsd:string) AnnotationAssertion( "ICD10CM:J37.1"^^xsd:string) AnnotationAssertion( "ICD9CM:464"^^xsd:string) AnnotationAssertion( "ICD9CM:476.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050148"^^xsd:string) AnnotationAssertion(rdfs:label "laryngotracheitis"^^xsd:string) SubClassOf( ) # Class: (Pontiac fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/legionella/patient_facts.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/623097"^^xsd:string) "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050150"^^xsd:string) AnnotationAssertion(rdfs:label "Pontiac fever"^^xsd:string) SubClassOf( ) # Class: (aspiration pneumonia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Aspiration_pneumonia"^^xsd:string) "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011015"^^xsd:string) AnnotationAssertion( "Acid Aspiration Syndrome"^^xsd:string) AnnotationAssertion( "Aspiration Pneumonias"^^xsd:string) AnnotationAssertion( "Gastric Acid Aspiration Syndrome"^^xsd:string) AnnotationAssertion( "Mendelson syndrome"^^xsd:string) AnnotationAssertion( "Mendelson's Syndrome"^^xsd:string) AnnotationAssertion( "Mendelsons Syndrome"^^xsd:string) AnnotationAssertion( "acid aspiration syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050152"^^xsd:string) AnnotationAssertion(rdfs:label "aspiration pneumonia"^^xsd:string) SubClassOf( ) # Class: (pulmonary aspergilloma) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm"^^xsd:string) "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001834"^^xsd:string) AnnotationAssertion( "RDO:9002381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050153"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary aspergilloma"^^xsd:string) SubClassOf( ) # Class: (sensory system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9003045"^^xsd:string) AnnotationAssertion( "EFO:0001058"^^xsd:string) AnnotationAssertion( "EFO:0009543"^^xsd:string) AnnotationAssertion( "MESH:D012678"^^xsd:string) AnnotationAssertion( "Sensation Disorder"^^xsd:string) AnnotationAssertion( "Sensation Disorders"^^xsd:string) AnnotationAssertion( "Sensory Disorder"^^xsd:string) AnnotationAssertion( "Sensory Disorders"^^xsd:string) AnnotationAssertion( "Special Senses Disorder"^^xsd:string) AnnotationAssertion( "Special Senses Disorders"^^xsd:string) AnnotationAssertion( "sensory system diseases"^^xsd:string) AnnotationAssertion( "disturbances of sensation of smell and taste"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050155"^^xsd:string) AnnotationAssertion(rdfs:label "sensory system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (idiopathic pulmonary fibrosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32855221/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK448162/"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis"^^xsd:string) Annotation( "https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf"^^xsd:string) "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000768"^^xsd:string) AnnotationAssertion( "GARD:8609"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.112"^^xsd:string) AnnotationAssertion( "ICD9CM:516.31"^^xsd:string) AnnotationAssertion( "MESH:D054990"^^xsd:string) AnnotationAssertion( "MIM:178500"^^xsd:string) AnnotationAssertion( "NCI:C35715"^^xsd:string) AnnotationAssertion( "NCI:C35716"^^xsd:string) AnnotationAssertion( "IPF"^^xsd:string) AnnotationAssertion( "Idiopathic Fibrosing Alveolitis, Chronic Form"^^xsd:string) AnnotationAssertion( "cryptogenic fibrosing alveolitides"^^xsd:string) AnnotationAssertion( "cryptogenic fibrosing alveolitis"^^xsd:string) AnnotationAssertion( "familial idiopathic pulmonary fibrosis"^^xsd:string) AnnotationAssertion( "fibrocystic pulmonary dysplasia"^^xsd:string) AnnotationAssertion( "fibrocystic pulmonary dysplasias"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary fibroses"^^xsd:string) AnnotationAssertion( "Hamman Rich disease"^^xsd:string) AnnotationAssertion( "Hamman-Rich diseases"^^xsd:string) AnnotationAssertion( "UIP Hamman Rich disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary fibrosis, susceptibility to"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonia"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonias"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonitides"^^xsd:string) AnnotationAssertion( "usual interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "DOID:0050156"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic pulmonary fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cryptogenic organizing pneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string) "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001300"^^xsd:string) AnnotationAssertion( "GARD:1620"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.116"^^xsd:string) AnnotationAssertion( "ICD9CM:516.36"^^xsd:string) AnnotationAssertion( "MESH:D018549"^^xsd:string) AnnotationAssertion( "NCI:C62586"^^xsd:string) AnnotationAssertion( "BOOP"^^xsd:string) AnnotationAssertion( "Cryptogenic Organizing Pneumonias"^^xsd:string) AnnotationAssertion( "Cryptogenic organising pneumonitis"^^xsd:string) AnnotationAssertion( "bronchiolitis obliterans organising pneumonia"^^xsd:string) AnnotationAssertion( "bronchiolitis obliterans organizing pneumonia"^^xsd:string) AnnotationAssertion( "cryptogenic organising pneumonia"^^xsd:string) AnnotationAssertion( "cryptogenic organizing pneumonitis"^^xsd:string) AnnotationAssertion( "idiopathic bronchiolitis obliterans with organising pneumonia"^^xsd:string) AnnotationAssertion( "idiopathic bronchiolitis obliterans with organizing pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050157"^^xsd:string) AnnotationAssertion(rdfs:label "cryptogenic organizing pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (desquamative interstitial pneumonia) AnnotationAssertion(Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16142185"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16456642"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23001799"^^xsd:string) "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:263000"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.117"^^xsd:string) AnnotationAssertion( "ICD9CM:516.37"^^xsd:string) AnnotationAssertion( "MESH:C562470"^^xsd:string) AnnotationAssertion( "NCI:C35288"^^xsd:string) AnnotationAssertion( "DIP"^^xsd:string) AnnotationAssertion( "ILD, DESQUAMATIVE"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease, Desquamative"^^xsd:string) AnnotationAssertion( "RBILD"^^xsd:string) AnnotationAssertion( "familial desquamative interstitial pneumonia"^^xsd:string) AnnotationAssertion( "familial desquamative interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "respiratory bronchiolitis-associated interstitial lung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050158"^^xsd:string) AnnotationAssertion(rdfs:label "desquamative interstitial pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphoid interstitial pneumonia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string) "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.2"^^xsd:string) AnnotationAssertion( "MESH:C562489"^^xsd:string) AnnotationAssertion( "MIM:247610"^^xsd:string) AnnotationAssertion( "MONDO:0009537"^^xsd:string) AnnotationAssertion( "NCI:C27558"^^xsd:string) AnnotationAssertion( "ORDO:79128"^^xsd:string) AnnotationAssertion( "lymphocytic interstitial pneumonia"^^xsd:string) AnnotationAssertion( "lymphocytic interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050159"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoid interstitial pneumonia"^^xsd:string) SubClassOf( ) # Class: (inhalation anthrax) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/001325.htm"^^xsd:string) Annotation( "https://www.cdc.gov/anthrax/basics/types/index.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11988441"^^xsd:string) "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C571912"^^xsd:string) AnnotationAssertion( "pulmonary anthrax"^^xsd:string) AnnotationAssertion( "respiratory anthrax"^^xsd:string) AnnotationAssertion( "wool-sorters' disease"^^xsd:string) AnnotationAssertion( "woolsorters' disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050160"^^xsd:string) AnnotationAssertion(rdfs:label "inhalation anthrax"^^xsd:string) SubClassOf( ) # Class: (lower respiratory tract disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/lower_respiratory_tract"^^xsd:string) "A respiratory system disease which involves the lower respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009433"^^xsd:string) AnnotationAssertion( "RDO:9004972"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050161"^^xsd:string) AnnotationAssertion(rdfs:label "lower respiratory tract disease"^^xsd:string) SubClassOf( ) # Class: (tuberculous salpingitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false"^^xsd:string) "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.17"^^xsd:string) AnnotationAssertion( "ICD9CM:016.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050166"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous salpingitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune polyendocrine syndrome type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1"^^xsd:string) "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:240300"^^xsd:string) AnnotationAssertion( "GARD:8466"^^xsd:string) AnnotationAssertion( "MESH:C538275"^^xsd:string) AnnotationAssertion( "APS I"^^xsd:string) AnnotationAssertion( "APS type 1"^^xsd:string) AnnotationAssertion( "APS1"^^xsd:string) AnnotationAssertion( "PGA I"^^xsd:string) AnnotationAssertion( "Whitaker syndrome"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type 1"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I, autosomal dominant"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome I"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type 1"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type I"^^xsd:string) AnnotationAssertion( "hypoadrenocorticism with hypoparathyroidism and superficial moniliasis"^^xsd:string) AnnotationAssertion( "polyglandular deficiency syndrome, Persian-Jewish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050167"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune polyendocrine syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (autoimmune polyendocrine syndrome type 2) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2"^^xsd:string) "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7611"^^xsd:string) AnnotationAssertion( "MIM:269200"^^xsd:string) AnnotationAssertion( "APS2"^^xsd:string) AnnotationAssertion( "Schmidt syndrome"^^xsd:string) AnnotationAssertion( "Schmidt's syndrome"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrine syndrome type II"^^xsd:string) AnnotationAssertion( "autoimmune polyglandular syndrome type II"^^xsd:string) AnnotationAssertion( "multiple endocrine deficiency syndrome, type 2"^^xsd:string) AnnotationAssertion( "polyglandular autoimmune syndrome, type 2"^^xsd:string) AnnotationAssertion( "polyglandular deficiency syndrome, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050168"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune polyendocrine syndrome type 2"^^xsd:string) SubClassOf( ) # Class: (cutaneous lupus erythematosus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/"^^xsd:string) "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003834"^^xsd:string) AnnotationAssertion( "GARD:6225"^^xsd:string) AnnotationAssertion( "MESH:D008178"^^xsd:string) AnnotationAssertion( "MONDO:0005282"^^xsd:string) AnnotationAssertion( "subacute cutaneous lupus erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050169"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous lupus erythematosus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kunjin encephalitis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/2552010"^^xsd:string) Annotation( "https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx"^^xsd:string) "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050174"^^xsd:string) AnnotationAssertion(rdfs:label "Kunjin encephalitis"^^xsd:string) SubClassOf( ) # Class: (tick-borne encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001309"^^xsd:string) AnnotationAssertion( "GARD:5216"^^xsd:string) AnnotationAssertion( "ICD10CM:A84.1"^^xsd:string) AnnotationAssertion( "ICD9CM:063.2"^^xsd:string) AnnotationAssertion( "MESH:D004675"^^xsd:string) AnnotationAssertion( "Central European Encephalitis"^^xsd:string) AnnotationAssertion( "European Tick Borne Encephalitis"^^xsd:string) AnnotationAssertion( "European Tick-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "Far Eastern Russian Encephalitis"^^xsd:string) AnnotationAssertion( "Far Eastern TBE"^^xsd:string) AnnotationAssertion( "Louping Ill Encephalitides"^^xsd:string) AnnotationAssertion( "Louping Ill Encephalitis"^^xsd:string) AnnotationAssertion( "Russian Spring Summer Encephalitis"^^xsd:string) AnnotationAssertion( "Siberian tick-borne encephalitis"^^xsd:string) AnnotationAssertion( "Tick-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "Western European tick-borne encephalitis"^^xsd:string) AnnotationAssertion( "taiga encephalitis"^^xsd:string) AnnotationAssertion( "west-Siberian encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050175"^^xsd:string) AnnotationAssertion(rdfs:label "tick-borne encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (monogenic disease) AnnotationAssertion(Annotation( "https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders"^^xsd:string) "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050177"^^xsd:string) AnnotationAssertion(rdfs:label "monogenic disease"^^xsd:string) SubClassOf( ) # Class: (Powassan encephalitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002648"^^xsd:string) AnnotationAssertion( "Powassan Encephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050179"^^xsd:string) AnnotationAssertion(rdfs:label "Powassan encephalitis"^^xsd:string) SubClassOf( ) # Class: (erythema multiforme) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm"^^xsd:string) "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000694"^^xsd:string) AnnotationAssertion( "GARD:6372"^^xsd:string) AnnotationAssertion( "MESH:D004892"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050185"^^xsd:string) AnnotationAssertion(rdfs:label "erythema multiforme"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nipah virus encephalitis) AnnotationAssertion(Annotation( "https://www.cdc.gov/vhf/nipah/index.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19141846"^^xsd:string) Annotation( "https://www.who.int/csr/disease/nipah/en/"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050192"^^xsd:string) AnnotationAssertion(rdfs:label "Nipah virus encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Argentine hemorrhagic fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever"^^xsd:string) Annotation( "http://www.jstor.org/stable/30129873?seq=1"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004295"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050194"^^xsd:string) AnnotationAssertion(rdfs:label "Argentine hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bolivian hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050195"^^xsd:string) AnnotationAssertion(rdfs:label "Bolivian hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Venezuelan hemorrhagic fever) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34917387/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7840443/"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050196"^^xsd:string) AnnotationAssertion(rdfs:label "Venezuelan hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Brazilian hemorrhagic fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7905555"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050197"^^xsd:string) AnnotationAssertion(rdfs:label "Brazilian hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Chapare hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/18421377"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050198"^^xsd:string) AnnotationAssertion(rdfs:label "Chapare hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Whitewater Arroyo hemorrhagic fever) AnnotationAssertion(Annotation( "http://jama.ama-assn.org/cgi/content/full/284/10/1237"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/1799746"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050199"^^xsd:string) AnnotationAssertion(rdfs:label "Whitewater Arroyo hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Korean hemorrhagic fever) AnnotationAssertion(Annotation( "http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false"^^xsd:string) Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1349231"^^xsd:string) "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050200"^^xsd:string) AnnotationAssertion(rdfs:label "Korean hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (nephropathia epidemica) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1349231"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2574903"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2902106"^^xsd:string) "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050201"^^xsd:string) AnnotationAssertion(rdfs:label "nephropathia epidemica"^^xsd:string) SubClassOf( ) # Class: (lujo hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/19478873"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004301"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050202"^^xsd:string) AnnotationAssertion(rdfs:label "lujo hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (Epstein-Barr virus hepatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16711324"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17602362"^^xsd:string) "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050204"^^xsd:string) AnnotationAssertion(rdfs:label "Epstein-Barr virus hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (swine influenza) AnnotationAssertion(Annotation( "http://www.cdc.gov/flu/swineflu/key_facts.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9140195"^^xsd:string) "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005226"^^xsd:string) AnnotationAssertion( "RDO:9002858"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050211"^^xsd:string) AnnotationAssertion(rdfs:label "swine influenza"^^xsd:string) SubClassOf( ) # Class: (Lambert-Eaton myasthenic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome"^^xsd:string) "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G70.80"^^xsd:string) AnnotationAssertion( "ICD9CM:358.3"^^xsd:string) AnnotationAssertion( "MESH:D015624"^^xsd:string) AnnotationAssertion( "NCI:C3155"^^xsd:string) AnnotationAssertion( "Eaton Lambert Syndrome"^^xsd:string) AnnotationAssertion( "Eaton-Lambert Myasthenic-Myopathic Syndrome"^^xsd:string) AnnotationAssertion( "Eaton-Lambert Myopathic-Myasthenic Syndromes"^^xsd:string) AnnotationAssertion( "LEMS"^^xsd:string) AnnotationAssertion( "myasthenic-myopathic syndrome of Eaton Lambert"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050214"^^xsd:string) AnnotationAssertion(rdfs:label "Lambert-Eaton myasthenic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polycystic echinococcosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm"^^xsd:string) "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002368"^^xsd:string) AnnotationAssertion( "human polycystic hydatid disease"^^xsd:string) AnnotationAssertion( "neotropical echinococcosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050218"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (selective IgM deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/IgM"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency"^^xsd:string) "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050222"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgM deficiency disease"^^xsd:string) SubClassOf( ) # Class: (primary amebic meningoencephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9554"^^xsd:string) AnnotationAssertion( "Meningoencephalitis caused by Naegleria fowleri"^^xsd:string) AnnotationAssertion( "Naegleria fowleri infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050242"^^xsd:string) AnnotationAssertion(rdfs:label "primary amebic meningoencephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granulomatous amebic encephalitis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm"^^xsd:string) "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12651"^^xsd:string) AnnotationAssertion( "acanthamoeba encephalitis"^^xsd:string) AnnotationAssertion( "acanthamoeba granulomatous encephalitis"^^xsd:string) AnnotationAssertion( "granulomatous amebic encephalitis due to acanthamoeba"^^xsd:string) AnnotationAssertion( "granulomatous amoebic encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050246"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous amebic encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (philophthalmiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050250"^^xsd:string) AnnotationAssertion(rdfs:label "philophthalmiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coenurosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Coenurosis"^^xsd:string) Annotation( "https://www.cdc.gov/dpdx/coenurosis/index.html"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050251"^^xsd:string) AnnotationAssertion(rdfs:label "coenurosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mesocestoidiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002492"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050253"^^xsd:string) AnnotationAssertion(rdfs:label "mesocestoidiasis"^^xsd:string) SubClassOf( ) # Class: (acanthocephaliasis) AnnotationAssertion(Annotation( "https://www.cdc.gov/dpdx/acanthocephaliasis/index.html"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002493"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050254"^^xsd:string) AnnotationAssertion(rdfs:label "acanthocephaliasis"^^xsd:string) SubClassOf( ) # Class: (angiostrongyliasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Angiostrongyliasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:683"^^xsd:string) AnnotationAssertion( "MESH:C536369"^^xsd:string) AnnotationAssertion( "Angiostrongylus cantonensis infection"^^xsd:string) AnnotationAssertion( "Angiostrongylus costaricensis infection"^^xsd:string) AnnotationAssertion( "Intravitreal angiostrongyliasis"^^xsd:string) AnnotationAssertion( "Parastrongylus costaricensis infection"^^xsd:string) AnnotationAssertion( "abdominal angiostrongyliasis"^^xsd:string) AnnotationAssertion( "human eosinophilic meningitis"^^xsd:string) AnnotationAssertion( "rat lungworm infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050256"^^xsd:string) AnnotationAssertion(rdfs:label "angiostrongyliasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (baylisascariasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Baylisascaris"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050259"^^xsd:string) AnnotationAssertion(rdfs:label "baylisascariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dioctophymiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050260"^^xsd:string) AnnotationAssertion(rdfs:label "dioctophymiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thelaziasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm"^^xsd:string) "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050261"^^xsd:string) AnnotationAssertion(rdfs:label "thelaziasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tungiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tungiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm"^^xsd:string) "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001445"^^xsd:string) AnnotationAssertion( "GARD:393"^^xsd:string) AnnotationAssertion( "MESH:D058285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050266"^^xsd:string) AnnotationAssertion(rdfs:label "tungiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ophthalmomyiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string) "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050268"^^xsd:string) AnnotationAssertion(rdfs:label "ophthalmomyiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trichomonas vaginalis trichomoniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trichomoniasis"^^xsd:string) "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007521"^^xsd:string) AnnotationAssertion( "ICD10CM:A59.00"^^xsd:string) AnnotationAssertion( "MESH:D014247"^^xsd:string) AnnotationAssertion( "NCI:C35083"^^xsd:string) AnnotationAssertion( "Trichomonas Vaginitides"^^xsd:string) AnnotationAssertion( "Trichomonas vaginitis"^^xsd:string) AnnotationAssertion( "urogenital trichomonas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050269"^^xsd:string) AnnotationAssertion(rdfs:label "Trichomonas vaginalis trichomoniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichomonas tenax trichomoniasis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/20427914"^^xsd:string) "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050270"^^xsd:string) AnnotationAssertion(rdfs:label "Trichomonas tenax trichomoniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (basidiobolomycosis) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/"^^xsd:string) "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003673"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050278"^^xsd:string) AnnotationAssertion(rdfs:label "basidiobolomycosis"^^xsd:string) SubClassOf( ) # Class: (conidiobolomycosis) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/"^^xsd:string) "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003674"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050279"^^xsd:string) AnnotationAssertion(rdfs:label "conidiobolomycosis"^^xsd:string) SubClassOf( ) # Class: (penicilliosis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/16418525"^^xsd:string) "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050288"^^xsd:string) AnnotationAssertion(rdfs:label "penicilliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fusariosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14748803"^^xsd:string) "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001795"^^xsd:string) AnnotationAssertion( "MESH:D060585"^^xsd:string) AnnotationAssertion( "Disseminated Fusariosis"^^xsd:string) AnnotationAssertion( "Fusarioses"^^xsd:string) AnnotationAssertion( "Fusarium Infection"^^xsd:string) AnnotationAssertion( "Fusarium Infections"^^xsd:string) AnnotationAssertion( "Invasive Fusarioses"^^xsd:string) AnnotationAssertion( "Invasive Fusariosis"^^xsd:string) AnnotationAssertion( "Invasive Pulmonary Fusarioses"^^xsd:string) AnnotationAssertion( "Invasive Pulmonary Fusariosis"^^xsd:string) AnnotationAssertion( "Pulmonary Fusarioses"^^xsd:string) AnnotationAssertion( "disseminated fusarioses"^^xsd:string) AnnotationAssertion( "pulmonary fusariosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050289"^^xsd:string) AnnotationAssertion(rdfs:label "fusariosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichosporonosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Trichosporonosis"^^xsd:string) "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D060586"^^xsd:string) AnnotationAssertion( "Disseminated Trichosporonosis"^^xsd:string) AnnotationAssertion( "Invasive Trichosporonoses"^^xsd:string) AnnotationAssertion( "Invasive Trichosporonosis"^^xsd:string) AnnotationAssertion( "Japanese Summer Type Hypersensitivity Pneumonitis"^^xsd:string) AnnotationAssertion( "Summer Type Hypersensitivity Pneumonitis"^^xsd:string) AnnotationAssertion( "Summer-Type Hypersensitivity Pneumonitides"^^xsd:string) AnnotationAssertion( "disseminated trichosporonoses"^^xsd:string) AnnotationAssertion( "trichosporonoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050290"^^xsd:string) AnnotationAssertion(rdfs:label "trichosporonosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parasitic Ichthyosporea infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mesomycetozoea"^^xsd:string) "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050291"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic Ichthyosporea infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary systemic mycosis) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/"^^xsd:string) "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050292"^^xsd:string) AnnotationAssertion(rdfs:label "primary systemic mycosis"^^xsd:string) SubClassOf( ) # Class: (aniseikonia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Aniseikonia"^^xsd:string) "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001266"^^xsd:string) AnnotationAssertion( "MESH:D000839"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050304"^^xsd:string) AnnotationAssertion(rdfs:label "aniseikonia"^^xsd:string) SubClassOf( ) # Class: (Alkhurma hemorrhagic fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alkhurma_virus"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050308"^^xsd:string) AnnotationAssertion(rdfs:label "Alkhurma hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (congenital hypothyroidism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_hypothyroidism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism"^^xsd:string) "A hypothyroidism that is present at birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228355"^^xsd:string) AnnotationAssertion( "GARD:1487"^^xsd:string) AnnotationAssertion( "ICD10CM:E00.1"^^xsd:string) AnnotationAssertion( "ICD9CM:243"^^xsd:string) AnnotationAssertion( "MESH:D003409"^^xsd:string) AnnotationAssertion( "MIM:PS275200"^^xsd:string) AnnotationAssertion( "NCI:C26734"^^xsd:string) AnnotationAssertion( "NCI:C98921"^^xsd:string) AnnotationAssertion( "Cretinism"^^xsd:string) AnnotationAssertion( "Endemic Cretinism"^^xsd:string) AnnotationAssertion( "Fetal Iodine Deficiency Disorder"^^xsd:string) AnnotationAssertion( "congenital myxedema"^^xsd:string) AnnotationAssertion( "experimental congenital hypothyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050328"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hypothyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lacrimoauriculodentodigital syndrome 1) AnnotationAssertion(Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004849"^^xsd:string) AnnotationAssertion( "MIM:149730"^^xsd:string) AnnotationAssertion( "LADD Syndrome 1"^^xsd:string) AnnotationAssertion( "LADD1"^^xsd:string) AnnotationAssertion( "Lacrimo-auriculo-dento-digital syndrome 1"^^xsd:string) AnnotationAssertion( "Levy Hollister syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050331"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimoauriculodentodigital syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (enlarged vestibular aqueduct) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct"^^xsd:string) "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8651"^^xsd:string) AnnotationAssertion( "RDO:9003730"^^xsd:string) AnnotationAssertion( "EVA"^^xsd:string) AnnotationAssertion( "large vestibular aqueduct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050332"^^xsd:string) AnnotationAssertion(rdfs:label "enlarged vestibular aqueduct"^^xsd:string) SubClassOf( ) # Class: (bradyopsia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/bradyopsia/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17826834"^^xsd:string) "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12299"^^xsd:string) AnnotationAssertion( "MESH:C564243"^^xsd:string) AnnotationAssertion( "MIM:PS608415"^^xsd:string) AnnotationAssertion( "ORDO:75374"^^xsd:string) AnnotationAssertion( "PERRS"^^xsd:string) AnnotationAssertion( "prolonged electroretinal response suppression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050335"^^xsd:string) AnnotationAssertion(rdfs:label "bradyopsia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypophosphatemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypophosphatemia"^^xsd:string) "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D017674"^^xsd:string) AnnotationAssertion( "hypophosphatemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050336"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatemia"^^xsd:string) SubClassOf( ) # Class: (primary bacterial infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Infectious_disease"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO)"^^xsd:string) AnnotationAssertion( "DOID:13238"^^xsd:string) AnnotationAssertion( "primary bacterial infectious diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050338"^^xsd:string) AnnotationAssertion(rdfs:label "primary bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (commensal bacterial infectious disease) AnnotationAssertion(Annotation( "https://www.microbiologyinpictures.com/introduction.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24727150"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050339"^^xsd:string) AnnotationAssertion(rdfs:label "commensal bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (opportunistic bacterial infectious disease) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545"^^xsd:string) "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050340"^^xsd:string) AnnotationAssertion(rdfs:label "opportunistic bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (foodborne botulism) AnnotationAssertion(Annotation( "https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050352"^^xsd:string) AnnotationAssertion(rdfs:label "foodborne botulism"^^xsd:string) SubClassOf( ) # Class: (wound botulism) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs270/en/"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0015803"^^xsd:string) AnnotationAssertion( "wound botulisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050353"^^xsd:string) AnnotationAssertion(rdfs:label "wound botulism"^^xsd:string) SubClassOf( ) # Class: (infant botulism) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2002/0401/p1388.html"^^xsd:string) "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "infantile botulism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050354"^^xsd:string) AnnotationAssertion(rdfs:label "infant botulism"^^xsd:string) SubClassOf( ) # Class: (glandular tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string) "A tularemia that results_in swelling of regional lymph glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050382"^^xsd:string) AnnotationAssertion(rdfs:label "glandular tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (typhoidal tularemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29635071"^^xsd:string) "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050383"^^xsd:string) AnnotationAssertion(rdfs:label "typhoidal tularemia"^^xsd:string) SubClassOf( ) # Class: (nonpapillary renal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2921777"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8415591"^^xsd:string) "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050387"^^xsd:string) AnnotationAssertion(rdfs:label "nonpapillary renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (Carrion's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carrion%27s_disease"^^xsd:string) "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002611"^^xsd:string) AnnotationAssertion( "Carrion disease"^^xsd:string) AnnotationAssertion( "Carrions disease"^^xsd:string) AnnotationAssertion( "Oroya fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050398"^^xsd:string) AnnotationAssertion(rdfs:label "Carrion's disease"^^xsd:string) SubClassOf( ) # Class: (complement factor I deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/610984"^^xsd:string) "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610984"^^xsd:string) AnnotationAssertion( "MESH:C572568"^^xsd:string) AnnotationAssertion( "C3 glomerulopathy 2"^^xsd:string) AnnotationAssertion( "C3 inactivator deficiency"^^xsd:string) AnnotationAssertion( "C3G2"^^xsd:string) AnnotationAssertion( "CFID"^^xsd:string) AnnotationAssertion( "complement component 3 inactivator deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050419"^^xsd:string) AnnotationAssertion(rdfs:label "complement factor I deficiency"^^xsd:string) SubClassOf( ) # Class: (familial adenomatous polyposis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis"^^xsd:string) Annotation( "http://www.omim.org/entry/175100?search=adenomatous%20polyposis"^^xsd:string) "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)"^^xsd:string) AnnotationAssertion( "APC-associated polyposis disorders"^^xsd:string) AnnotationAssertion( "CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS"^^xsd:string) AnnotationAssertion( "MYH-associated polyposes"^^xsd:string) AnnotationAssertion( "MYH-associated polyposis"^^xsd:string) AnnotationAssertion( "EFO:1000633"^^xsd:string) AnnotationAssertion( "GARD:6408"^^xsd:string) AnnotationAssertion( "MESH:D011125"^^xsd:string) AnnotationAssertion( "MIM:PS175100"^^xsd:string) AnnotationAssertion( "NCI:C3339"^^xsd:string) AnnotationAssertion( "ORDO:733"^^xsd:string) AnnotationAssertion( "APC"^^xsd:string) AnnotationAssertion( "Adenomatous Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis Coli"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis Colus"^^xsd:string) AnnotationAssertion( "Adenomatous Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "FPC"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposes"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposis Coli"^^xsd:string) AnnotationAssertion( "Familial Adenomatous Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "Familial Intestinal Polyposes"^^xsd:string) AnnotationAssertion( "Familial Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposes"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposi"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposis"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposis Syndrome"^^xsd:string) AnnotationAssertion( "Familial Multiple Polyposus"^^xsd:string) AnnotationAssertion( "Familial Polyposis Coli"^^xsd:string) AnnotationAssertion( "Familial Polyposis Colus"^^xsd:string) AnnotationAssertion( "Familial Polyposis Syndrome"^^xsd:string) AnnotationAssertion( "Familial Polyposis Syndromes"^^xsd:string) AnnotationAssertion( "Familial Polyposis of the Colon"^^xsd:string) AnnotationAssertion( "Hereditary Polyposis Coli"^^xsd:string) AnnotationAssertion( "Hereditary Polyposis Colus"^^xsd:string) AnnotationAssertion( "adenomatous colonic polyposis"^^xsd:string) AnnotationAssertion( "adenomatous intestinal polyposes"^^xsd:string) AnnotationAssertion( "polyposis coli"^^xsd:string) AnnotationAssertion( "polyposis colus"^^xsd:string) AnnotationAssertion( "AAPC"^^xsd:string) AnnotationAssertion( "ADENOMATOUS POLYPOSIS COLI, ATTENUATED"^^xsd:string) AnnotationAssertion( "BRAIN TUMOR-POLYPOSIS SYNDROME 2"^^xsd:string) AnnotationAssertion( "BTPS2"^^xsd:string) AnnotationAssertion( "HEREDITARY MIXED POLYPOSIS"^^xsd:string) AnnotationAssertion( "polymerase proofreading-related adenomatous polyposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050424"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (restless legs syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Restless_legs_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm"^^xsd:string) "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610438"^^xsd:string) AnnotationAssertion( "MIM:610439"^^xsd:string) AnnotationAssertion( "MIM:611185"^^xsd:string) AnnotationAssertion( "MIM:611242"^^xsd:string) AnnotationAssertion( "MIM:612853"^^xsd:string) AnnotationAssertion( "MIM:615197"^^xsd:string) AnnotationAssertion( "EFO:0004270"^^xsd:string) AnnotationAssertion( "GARD:11926"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.81"^^xsd:string) AnnotationAssertion( "ICD9CM:333.94"^^xsd:string) AnnotationAssertion( "MESH:D012148"^^xsd:string) AnnotationAssertion( "MIM:PS102300"^^xsd:string) AnnotationAssertion( "NCI:C84501"^^xsd:string) AnnotationAssertion( "Ekbom syndrome"^^xsd:string) AnnotationAssertion( "PERIODIC LIMB MOVEMENTS IN SLEEP"^^xsd:string) AnnotationAssertion( "Restless Leg Syndrome"^^xsd:string) AnnotationAssertion( "Restless Legs"^^xsd:string) AnnotationAssertion( "WED"^^xsd:string) AnnotationAssertion( "Willis Ekbom Disease"^^xsd:string) AnnotationAssertion( "Willis Ekbom Syndrome"^^xsd:string) AnnotationAssertion( "Wittmaack Ekbom syndrome"^^xsd:string) AnnotationAssertion( "hereditary acromelalgia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RLS3"^^xsd:string) AnnotationAssertion( "RLS4"^^xsd:string) AnnotationAssertion( "RLS5"^^xsd:string) AnnotationAssertion( "RLS6"^^xsd:string) AnnotationAssertion( "RLS7"^^xsd:string) AnnotationAssertion( "RLS8"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "DOID:0050425"^^xsd:string) AnnotationAssertion(rdfs:label "restless legs syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stevens-Johnson syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome"^^xsd:string) "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608579"^^xsd:string) AnnotationAssertion( "EFO:0004276"^^xsd:string) AnnotationAssertion( "EFO:0004775"^^xsd:string) AnnotationAssertion( "GARD:7700"^^xsd:string) AnnotationAssertion( "ICD10CM:L51.1"^^xsd:string) AnnotationAssertion( "ICD9CM:695.13"^^xsd:string) AnnotationAssertion( "MESH:D013262"^^xsd:string) AnnotationAssertion( "NCI:C79484"^^xsd:string) AnnotationAssertion( "NCI:C79777"^^xsd:string) AnnotationAssertion( "Lyell Syndrome"^^xsd:string) AnnotationAssertion( "Lyell's Syndrome"^^xsd:string) AnnotationAssertion( "Lyell's Syndromes"^^xsd:string) AnnotationAssertion( "Mycoplasma Induced Stevens Johnson Syndrome"^^xsd:string) AnnotationAssertion( "Nonstaphylococcal Scalded Skin Syndrome"^^xsd:string) AnnotationAssertion( "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Stevens Johnson Syndrome Toxic Epidermal Necrolysis"^^xsd:string) AnnotationAssertion( "Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum"^^xsd:string) AnnotationAssertion( "Toxic Epidermal Necrolyses"^^xsd:string) AnnotationAssertion( "drug-induced Stevens-Johnson syndrome"^^xsd:string) AnnotationAssertion( "toxic epidermal necrolysis"^^xsd:string) AnnotationAssertion( "STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "carbamazepine-induced hypersensitivity syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "toxic epidermal necrolysis, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050426"^^xsd:string) AnnotationAssertion(rdfs:label "Stevens-Johnson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (xeroderma pigmentosum) AnnotationAssertion(Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract"^^xsd:string) "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7910"^^xsd:string) AnnotationAssertion( "MESH:D014983"^^xsd:string) AnnotationAssertion( "NCI:C3452"^^xsd:string) AnnotationAssertion( "ORDO:910"^^xsd:string) AnnotationAssertion( "Kaposi disease"^^xsd:string) AnnotationAssertion( "Kaposi's disease"^^xsd:string) AnnotationAssertion( "Kaposis disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050427"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonepidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Palmoplantar_keratoderma"^^xsd:string) "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000743"^^xsd:string) AnnotationAssertion( "MESH:C563422"^^xsd:string) AnnotationAssertion( "NEPPK"^^xsd:string) AnnotationAssertion( "NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS"^^xsd:string) AnnotationAssertion( "PPKNE"^^xsd:string) AnnotationAssertion( "Thost-Unna Syndrome"^^xsd:string) AnnotationAssertion( "Unna-Thost Syndrome"^^xsd:string) AnnotationAssertion( "diffuse nonepidermolytic palmomplantar keratoderma"^^xsd:string) AnnotationAssertion( "diffuse nonepidermolytic palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "diffuse orthohyperkeratotic keratoderma"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris diffusa circumscripta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050428"^^xsd:string) AnnotationAssertion(rdfs:label "nonepidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (Hailey-Hailey disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/hailey-hailey-disease/"^^xsd:string) "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169600"^^xsd:string) AnnotationAssertion( "GARD:6559"^^xsd:string) AnnotationAssertion( "MESH:D016506"^^xsd:string) AnnotationAssertion( "NCI:C82865"^^xsd:string) AnnotationAssertion( "BCPM"^^xsd:string) AnnotationAssertion( "HHD"^^xsd:string) AnnotationAssertion( "benign chronic pemphigus"^^xsd:string) AnnotationAssertion( "benign familial pemphigus"^^xsd:string) AnnotationAssertion( "familial benign chronic pemphigus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050429"^^xsd:string) AnnotationAssertion(rdfs:label "Hailey-Hailey disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple endocrine neoplasia type 2A) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965261"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract"^^xsd:string) "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:171400"^^xsd:string) AnnotationAssertion( "MEA II"^^xsd:string) AnnotationAssertion( "MEN 2"^^xsd:string) AnnotationAssertion( "MEN II"^^xsd:string) AnnotationAssertion( "MEN2 Disease"^^xsd:string) AnnotationAssertion( "MEN2 Phenotype: Unclassified"^^xsd:string) AnnotationAssertion( "MEN2 Phenotype: Unknown"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia 2"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia Type 2"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia II"^^xsd:string) AnnotationAssertion( "ICD10CM:E31.22"^^xsd:string) AnnotationAssertion( "ICD9CM:258.02"^^xsd:string) AnnotationAssertion( "MESH:D018813"^^xsd:string) AnnotationAssertion( "NCI:C3226"^^xsd:string) AnnotationAssertion( "ORDO:247698"^^xsd:string) AnnotationAssertion( "FMTC AND UNCLASSIFIED"^^xsd:string) AnnotationAssertion( "MEA 2A"^^xsd:string) AnnotationAssertion( "MEA IIa"^^xsd:string) AnnotationAssertion( "MEN 2A syndrome"^^xsd:string) AnnotationAssertion( "MEN 2a"^^xsd:string) AnnotationAssertion( "MEN IIa"^^xsd:string) AnnotationAssertion( "MEN-2A Syndromes"^^xsd:string) AnnotationAssertion( "MEN2a"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia, Type IIa"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasms Type 2a"^^xsd:string) AnnotationAssertion( "PTC syndrome"^^xsd:string) AnnotationAssertion( "Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma"^^xsd:string) AnnotationAssertion( "Sipple syndrome"^^xsd:string) AnnotationAssertion( "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease"^^xsd:string) AnnotationAssertion( "familial medullary thyroid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MEN2A and Unclassified"^^xsd:string) AnnotationAssertion( "DOID:0050430"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy"^^xsd:string) Annotation( "http://my.clevelandclinic.org/services/heart/disorders/arvd"^^xsd:string) Annotation( "http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31637441/"^^xsd:string) "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "EFO:0002631"^^xsd:string) AnnotationAssertion( "MESH:D019571"^^xsd:string) AnnotationAssertion( "MIM:PS107970"^^xsd:string) AnnotationAssertion( "MONDO:0016587"^^xsd:string) AnnotationAssertion( "NCI:C84571"^^xsd:string) AnnotationAssertion( "ORDO:217656"^^xsd:string) AnnotationAssertion( "ORDO:247"^^xsd:string) AnnotationAssertion( "ARVC"^^xsd:string) AnnotationAssertion( "ARVD"^^xsd:string) AnnotationAssertion( "ARVD-C"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Dysplasia"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, ARVC"^^xsd:string) AnnotationAssertion( "right ventricular ACM"^^xsd:string) AnnotationAssertion( "right ventricular cardiomyopathy"^^xsd:string) AnnotationAssertion( "FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA"^^xsd:string) AnnotationAssertion( "TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050431"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Asperger syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Asperger_syndrome"^^xsd:string) Annotation( "http://www.neurodevnet.ca"^^xsd:string) "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608631"^^xsd:string) AnnotationAssertion( "MIM:608638"^^xsd:string) AnnotationAssertion( "MIM:608781"^^xsd:string) AnnotationAssertion( "MIM:609954"^^xsd:string) AnnotationAssertion( "EFO:0003757"^^xsd:string) AnnotationAssertion( "GARD:5855"^^xsd:string) AnnotationAssertion( "ICD10CM:F84.5"^^xsd:string) AnnotationAssertion( "MESH:D020817"^^xsd:string) AnnotationAssertion( "MIM:PS608638"^^xsd:string) AnnotationAssertion( "MONDO:0005259"^^xsd:string) AnnotationAssertion( "NCI:C97159"^^xsd:string) AnnotationAssertion( "ORDO:1162"^^xsd:string) AnnotationAssertion( "ASPG"^^xsd:string) AnnotationAssertion( "Asperger disease"^^xsd:string) AnnotationAssertion( "Asperger diseases"^^xsd:string) AnnotationAssertion( "Asperger disorder"^^xsd:string) AnnotationAssertion( "Asperger disorders"^^xsd:string) AnnotationAssertion( "Asperger's Disease"^^xsd:string) AnnotationAssertion( "Asperger's diseases"^^xsd:string) AnnotationAssertion( "Asperger's disorder"^^xsd:string) AnnotationAssertion( "Asperger's syndrome"^^xsd:string) AnnotationAssertion( "Aspergers disease"^^xsd:string) AnnotationAssertion( "Aspergers disorder"^^xsd:string) AnnotationAssertion( "Aspergers syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ASPG1"^^xsd:string) AnnotationAssertion( "ASPG2"^^xsd:string) AnnotationAssertion( "ASPG3"^^xsd:string) AnnotationAssertion( "ASPG4"^^xsd:string) AnnotationAssertion( "ASPGX1"^^xsd:string) AnnotationAssertion( "ASPGX2"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, X-Linked, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Asperger Syndrome, X-Linked, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "DOID:0050432"^^xsd:string) AnnotationAssertion(rdfs:label "Asperger syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fatal familial insomnia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fatal_familial_insomnia"^^xsd:string) "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600072"^^xsd:string) AnnotationAssertion( "GARD:6429"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.83"^^xsd:string) AnnotationAssertion( "ICD9CM:046.72"^^xsd:string) AnnotationAssertion( "MESH:D034062"^^xsd:string) AnnotationAssertion( "NCI:C84711"^^xsd:string) AnnotationAssertion( "FFI"^^xsd:string) AnnotationAssertion( "familial fatal insomnias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050433"^^xsd:string) AnnotationAssertion(rdfs:label "fatal familial insomnia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Andersen-Tawil syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Long_QT_syndrome"^^xsd:string) "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:170390"^^xsd:string) AnnotationAssertion( "GARD:9453"^^xsd:string) AnnotationAssertion( "MESH:D050030"^^xsd:string) AnnotationAssertion( "NCI:C84559"^^xsd:string) AnnotationAssertion( "ORDO:37553"^^xsd:string) AnnotationAssertion( "ATS"^^xsd:string) AnnotationAssertion( "Andersen cardiodysrhythmic periodic paralysis"^^xsd:string) AnnotationAssertion( "Andersen cardiodysrythmic periodic paralysis"^^xsd:string) AnnotationAssertion( "Andersen syndrome"^^xsd:string) AnnotationAssertion( "LQT7"^^xsd:string) AnnotationAssertion( "long QT syndrome 7"^^xsd:string) AnnotationAssertion( "potassium-sensitive cardiodysrhythmic type"^^xsd:string) AnnotationAssertion( "potassium-sensitive cardiodysrhythmic type periodic paralysis"^^xsd:string) AnnotationAssertion( "potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050434"^^xsd:string) AnnotationAssertion(rdfs:label "Andersen-Tawil syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mulibrey nanism) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/mulibrey-nanism/"^^xsd:string) "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538604"^^xsd:string) AnnotationAssertion( "MIM:253250"^^xsd:string) AnnotationAssertion( "GARD:95"^^xsd:string) AnnotationAssertion( "MESH:D050336"^^xsd:string) AnnotationAssertion( "NCI:C84906"^^xsd:string) AnnotationAssertion( "ORDO:2576"^^xsd:string) AnnotationAssertion( "MUL"^^xsd:string) AnnotationAssertion( "Perheentupa syndrome"^^xsd:string) AnnotationAssertion( "TRIM37-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "mulibrey growth disorder"^^xsd:string) AnnotationAssertion( "mulibrey nanism syndrome"^^xsd:string) AnnotationAssertion( "muscle liver brain eye nanism"^^xsd:string) AnnotationAssertion( "pericardial constriction and growth failure"^^xsd:string) AnnotationAssertion( "pericardial constriction with growth failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050436"^^xsd:string) AnnotationAssertion(rdfs:label "mulibrey nanism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Danon disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/danon-disease/"^^xsd:string) "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300257"^^xsd:string) AnnotationAssertion( "EFO:1001333"^^xsd:string) AnnotationAssertion( "GARD:9730"^^xsd:string) AnnotationAssertion( "MESH:D052120"^^xsd:string) AnnotationAssertion( "NCI:C84735"^^xsd:string) AnnotationAssertion( "Antopol disease"^^xsd:string) AnnotationAssertion( "GSD IIb"^^xsd:string) AnnotationAssertion( "GSD2B"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease IIb"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease Limited to the Heart"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease Type 2B"^^xsd:string) AnnotationAssertion( "X-linked vacuolar cardiomyopathy and myopathy"^^xsd:string) AnnotationAssertion( "glycogen storage cardiomyopathies"^^xsd:string) AnnotationAssertion( "glycogen storage cardiomyopathy"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IIB"^^xsd:string) AnnotationAssertion( "lysosomal glycogen storage disease with normal acid maltase"^^xsd:string) AnnotationAssertion( "lysosomal glycogen storage disease without acid maltase deficiency"^^xsd:string) AnnotationAssertion( "pseudoglycogenosis 2"^^xsd:string) AnnotationAssertion( "pseudoglycogenosis II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050437"^^xsd:string) AnnotationAssertion(rdfs:label "Danon disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Frasier syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/frasier-syndrome"^^xsd:string) "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136680"^^xsd:string) AnnotationAssertion( "GARD:2375"^^xsd:string) AnnotationAssertion( "MESH:D052159"^^xsd:string) AnnotationAssertion( "NCI:C122805"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050438"^^xsd:string) AnnotationAssertion(rdfs:label "Frasier syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Usher_syndrome"^^xsd:string) "A syndrome characterized by a combination of hearing loss and visual impairment. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7843"^^xsd:string) AnnotationAssertion( "MESH:D052245"^^xsd:string) AnnotationAssertion( "MIM:PS276900"^^xsd:string) AnnotationAssertion( "NCI:C85217"^^xsd:string) AnnotationAssertion( "ORDO:886"^^xsd:string) AnnotationAssertion( "Graefe Usher syndrome"^^xsd:string) AnnotationAssertion( "Hallgren syndrome"^^xsd:string) AnnotationAssertion( "Usher syndromes"^^xsd:string) AnnotationAssertion( "Usher's syndrome"^^xsd:string) AnnotationAssertion( "Ushers syndrome"^^xsd:string) AnnotationAssertion( "dystrophia retinae pigmentosa dysostosis syndrome"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa and congenital deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050439"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy"^^xsd:string) Annotation( "http://omim.org/entry/608600"^^xsd:string) "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11962"^^xsd:string) AnnotationAssertion( "MESH:D052496"^^xsd:string) AnnotationAssertion( "MIM:PS151660"^^xsd:string) AnnotationAssertion( "NCI:C84708"^^xsd:string) AnnotationAssertion( "ORDO:98306"^^xsd:string) AnnotationAssertion( "Koberling Dunnigan Syndrome"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophies"^^xsd:string) AnnotationAssertion( "reverse partial lipodystrophies"^^xsd:string) AnnotationAssertion( "reverse partial lipodystrophy"^^xsd:string) AnnotationAssertion( "lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050440"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy"^^xsd:string) SubClassOf( ) # Class: (mucosulfatidosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency"^^xsd:string) "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272200"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.26"^^xsd:string) AnnotationAssertion( "MESH:D052517"^^xsd:string) AnnotationAssertion( "NCI:C84908"^^xsd:string) AnnotationAssertion( "MSD"^^xsd:string) AnnotationAssertion( "juvenile sulfatidoses"^^xsd:string) AnnotationAssertion( "juvenile sulfatidosis"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiencies"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency disease"^^xsd:string) AnnotationAssertion( "multiple sulfatase deficiency diseases"^^xsd:string) AnnotationAssertion( "multiple sulphatase deficiency disease"^^xsd:string) AnnotationAssertion( "sulfatidosis juvenile, Austin type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050441"^^xsd:string) AnnotationAssertion(rdfs:label "mucosulfatidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infantile Refsum disease) AnnotationAssertion(Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page"^^xsd:string) "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D052919"^^xsd:string) AnnotationAssertion( "NCI:C84789"^^xsd:string) AnnotationAssertion( "Infantile Refsums Disease"^^xsd:string) AnnotationAssertion( "NEONATAL ADRENOLEUCODYSTROPHY"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)"^^xsd:string) AnnotationAssertion( "Refsum disease, infantile form"^^xsd:string) AnnotationAssertion( "autosomal neonatal adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "infantile Refsum's disease"^^xsd:string) AnnotationAssertion( "infantile form of phytanic acid storage disease"^^xsd:string) AnnotationAssertion( "infantile phytanic acid storage disease"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050444"^^xsd:string) AnnotationAssertion(rdfs:label "infantile Refsum disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked dominant hypophosphatemic rickets) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/X-linked_hypophosphatemia"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia"^^xsd:string) "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)"^^xsd:string) AnnotationAssertion( "MIM:307800"^^xsd:string) AnnotationAssertion( "NCI:C85234"^^xsd:string) AnnotationAssertion( "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS"^^xsd:string) AnnotationAssertion( "PHEX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked hypophosphatemia"^^xsd:string) AnnotationAssertion( "X-linked hypophosphatemic rickets"^^xsd:string) AnnotationAssertion( "X-linked vitamin D resistant rickets"^^xsd:string) AnnotationAssertion( "XLH"^^xsd:string) AnnotationAssertion( "XLHR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050445"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dominant hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (white sponge nevus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/White_sponge_nevus"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29034652/"^^xsd:string) "A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8501"^^xsd:string) AnnotationAssertion( "MESH:D053529"^^xsd:string) AnnotationAssertion( "MIM:PS193900"^^xsd:string) AnnotationAssertion( "NCI:C84760"^^xsd:string) AnnotationAssertion( "ORDO:171723"^^xsd:string) AnnotationAssertion( "hereditary mucosal leukokeratoses"^^xsd:string) AnnotationAssertion( "hereditary mucosal leukokeratosis"^^xsd:string) AnnotationAssertion( "white sponge nevus of Cannon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050448"^^xsd:string) AnnotationAssertion(rdfs:label "white sponge nevus"^^xsd:string) SubClassOf( ) # Class: (pachyonychia congenita) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pachyonychia-congenita"^^xsd:string) "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10753"^^xsd:string) AnnotationAssertion( "MESH:D053549"^^xsd:string) AnnotationAssertion( "MIM:PS167200"^^xsd:string) AnnotationAssertion( "NCI:C84986"^^xsd:string) AnnotationAssertion( "ORDO:2309"^^xsd:string) AnnotationAssertion( "PC-K6A"^^xsd:string) AnnotationAssertion( "congenital pachyonychia"^^xsd:string) AnnotationAssertion( "congenital pachyonychias"^^xsd:string) AnnotationAssertion( "pachyonychia congenita syndrome"^^xsd:string) AnnotationAssertion( "pachyonychia congenita syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050449"^^xsd:string) AnnotationAssertion(rdfs:label "pachyonychia congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gitelman syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gitelman-syndrome"^^xsd:string) "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO)"^^xsd:string) AnnotationAssertion( "MIM:263800"^^xsd:string) AnnotationAssertion( "GARD:8547"^^xsd:string) AnnotationAssertion( "MESH:D053579"^^xsd:string) AnnotationAssertion( "NCI:C84730"^^xsd:string) AnnotationAssertion( "GTLMNS"^^xsd:string) AnnotationAssertion( "Gitelman's syndrome"^^xsd:string) AnnotationAssertion( "SLC12A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "familial hypokalemia hypomagnesemia"^^xsd:string) AnnotationAssertion( "potassium and magnesium depletion"^^xsd:string) AnnotationAssertion( "primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria"^^xsd:string) AnnotationAssertion( "tubular hypomagnesemia hypokalemia with hypocalcuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050450"^^xsd:string) AnnotationAssertion(rdfs:label "Gitelman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brugada syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brugada_syndrome"^^xsd:string) "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004691"^^xsd:string) AnnotationAssertion( "GARD:1030"^^xsd:string) AnnotationAssertion( "MESH:D053840"^^xsd:string) AnnotationAssertion( "MIM:PS601144"^^xsd:string) AnnotationAssertion( "MONDO:0015263"^^xsd:string) AnnotationAssertion( "NCI:C142891"^^xsd:string) AnnotationAssertion( "ORDO:130"^^xsd:string) AnnotationAssertion( "Bangungut"^^xsd:string) AnnotationAssertion( "Brugada ECG pattern"^^xsd:string) AnnotationAssertion( "Brugada Type ECG Pattern"^^xsd:string) AnnotationAssertion( "Brugada syndrome (shorter-than-normal QT interval)"^^xsd:string) AnnotationAssertion( "Brugada type idiopathic ventricular fibrillation"^^xsd:string) AnnotationAssertion( "Pokkuri death syndrome"^^xsd:string) AnnotationAssertion( "SUNDS"^^xsd:string) AnnotationAssertion( "dream disease"^^xsd:string) AnnotationAssertion( "sudden unexplained death syndrome"^^xsd:string) AnnotationAssertion( "sudden unexplained nocturnal death syndrome"^^xsd:string) AnnotationAssertion( "sudden unexplained nocturnal death syndrome (SUNDS)"^^xsd:string) AnnotationAssertion( "Brugada Syndrome, Lidocaine-Induced"^^xsd:string) AnnotationAssertion( "SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brugada syndrome, phenotype modifier"^^xsd:string) AnnotationAssertion( "DOID:0050451"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mevalonic aciduria) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria"^^xsd:string) "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3588"^^xsd:string) AnnotationAssertion( "MESH:D054078"^^xsd:string) AnnotationAssertion( "MIM:610377"^^xsd:string) AnnotationAssertion( "MONDO:0012481"^^xsd:string) AnnotationAssertion( "NCI:C84890"^^xsd:string) AnnotationAssertion( "ORDO:29"^^xsd:string) AnnotationAssertion( "HIDS"^^xsd:string) AnnotationAssertion( "MEVA"^^xsd:string) AnnotationAssertion( "mevalonate kinase deficiencies"^^xsd:string) AnnotationAssertion( "mevalonate kinase deficiency"^^xsd:string) AnnotationAssertion( "mevalonicaciduria"^^xsd:string) AnnotationAssertion( "mevalonicacidurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050452"^^xsd:string) AnnotationAssertion(rdfs:label "mevalonic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lissencephaly"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm"^^xsd:string) "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0011063"^^xsd:string) AnnotationAssertion( "GARD:12291"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.3"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.8"^^xsd:string) AnnotationAssertion( "MESH:D054082"^^xsd:string) AnnotationAssertion( "MIM:PS607432"^^xsd:string) AnnotationAssertion( "NCI:C103921"^^xsd:string) AnnotationAssertion( "ORDO:102009"^^xsd:string) AnnotationAssertion( "ORDO:48471"^^xsd:string) AnnotationAssertion( "Agyria"^^xsd:string) AnnotationAssertion( "Broad Gyri of Cerebrum"^^xsd:string) AnnotationAssertion( "ILS"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY SEQUENCE, ISOLATED"^^xsd:string) AnnotationAssertion( "Large Gyri of Cerebrum"^^xsd:string) AnnotationAssertion( "Lissencephalia"^^xsd:string) AnnotationAssertion( "Lissencephalies"^^xsd:string) AnnotationAssertion( "Pachygyria"^^xsd:string) AnnotationAssertion( "Pachygyrias"^^xsd:string) AnnotationAssertion( "agyrias"^^xsd:string) AnnotationAssertion( "macrogyria"^^xsd:string) AnnotationAssertion( "macrogyrias"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA"^^xsd:string) AnnotationAssertion( "POSTERIOR PREDOMINANT LISSENCEPHALY"^^xsd:string) AnnotationAssertion( "SBH"^^xsd:string) AnnotationAssertion( "SCLH"^^xsd:string) AnnotationAssertion( "lissencephaly, dominant"^^xsd:string) AnnotationAssertion( "lissencephaly, recessive"^^xsd:string) AnnotationAssertion( "subcortical band heterotopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050453"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periventricular nodular heterotopia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/periventricular-heterotopia"^^xsd:string) "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300049"^^xsd:string) AnnotationAssertion( "MESH:D054091"^^xsd:string) AnnotationAssertion( "MIM:PS300049"^^xsd:string) AnnotationAssertion( "NCI:C202072"^^xsd:string) AnnotationAssertion( "ORDO:98892"^^xsd:string) AnnotationAssertion( "BPNH"^^xsd:string) AnnotationAssertion( "Familial Nodular Heterotopia"^^xsd:string) AnnotationAssertion( "Heterotopia, Periventricular, X-Linked Dominant"^^xsd:string) AnnotationAssertion( "NHBP"^^xsd:string) AnnotationAssertion( "PVNH1"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopia"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopias"^^xsd:string) AnnotationAssertion( "Periventricular Nodular Heterotopia 1"^^xsd:string) AnnotationAssertion( "Periventricular Nodular Heterotopias"^^xsd:string) AnnotationAssertion( "X-linked periventricular heterotopia"^^xsd:string) AnnotationAssertion( "X-linked periventricular heterotopias"^^xsd:string) AnnotationAssertion( "bilateral periventricular nodular heterotopia"^^xsd:string) AnnotationAssertion( "familial nodular heterotopias"^^xsd:string) AnnotationAssertion( "HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050454"^^xsd:string) AnnotationAssertion(rdfs:label "periventricular nodular heterotopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Buruli ulcer disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Buruli_ulcer"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs199/en/"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610446"^^xsd:string) AnnotationAssertion( "EFO:1001281"^^xsd:string) AnnotationAssertion( "GARD:9520"^^xsd:string) AnnotationAssertion( "ICD10CM:A31.1"^^xsd:string) AnnotationAssertion( "MESH:D054312"^^xsd:string) AnnotationAssertion( "MONDO:0000327"^^xsd:string) AnnotationAssertion( "NCI:C84604"^^xsd:string) AnnotationAssertion( "BURULI ULCER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Bairnsdale ulcer"^^xsd:string) AnnotationAssertion( "Buruli Ulcer Diseases"^^xsd:string) AnnotationAssertion( "Buruli ulcer"^^xsd:string) AnnotationAssertion( "Daintree ulcer"^^xsd:string) AnnotationAssertion( "Mossman ulcer"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans Infection"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans Infections"^^xsd:string) AnnotationAssertion( "Searl ulcer"^^xsd:string) AnnotationAssertion( "Searle's ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Mycobacterium ulcerans, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050456"^^xsd:string) AnnotationAssertion(rdfs:label "Buruli ulcer disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sertoli cell-only syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome"^^xsd:string) "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001422"^^xsd:string) AnnotationAssertion( "GARD:8406"^^xsd:string) AnnotationAssertion( "MESH:D054331"^^xsd:string) AnnotationAssertion( "NCI:C168988"^^xsd:string) AnnotationAssertion( "Del Castillo syndrome"^^xsd:string) AnnotationAssertion( "germinal cell aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050457"^^xsd:string) AnnotationAssertion(rdfs:label "Sertoli cell-only syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile myelomonocytic leukemia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/"^^xsd:string) "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607785"^^xsd:string) AnnotationAssertion( "EFO:1000309"^^xsd:string) AnnotationAssertion( "GARD:9884"^^xsd:string) AnnotationAssertion( "ICD10CM:C93.3"^^xsd:string) AnnotationAssertion( "ICDO:9946/3"^^xsd:string) AnnotationAssertion( "MESH:D054429"^^xsd:string) AnnotationAssertion( "NCI:C9233"^^xsd:string) AnnotationAssertion( "ORDO:86834"^^xsd:string) AnnotationAssertion( "JMML"^^xsd:string) AnnotationAssertion( "juvenile chronic myelogenous leukemia"^^xsd:string) AnnotationAssertion( "juvenile myelomonocytic leukemias"^^xsd:string) AnnotationAssertion( "CMML"^^xsd:string) AnnotationAssertion( "juvenile myelomonocytic leukemia, chronic myelomonocytic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050458"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myelomonocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis"^^xsd:string) "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054559"^^xsd:string) AnnotationAssertion( "NCI:C113750"^^xsd:string) AnnotationAssertion( "hyperphosphatemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050459"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatemia"^^xsd:string) SubClassOf( ) # Class: (Wolf-Hirschhorn syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome"^^xsd:string) "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194190"^^xsd:string) AnnotationAssertion( "GARD:7896"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.3"^^xsd:string) AnnotationAssertion( "MESH:D054877"^^xsd:string) AnnotationAssertion( "NCI:C35528"^^xsd:string) AnnotationAssertion( "ORDO:280"^^xsd:string) AnnotationAssertion( "4p deletion syndrome"^^xsd:string) AnnotationAssertion( "4p- Syndrome"^^xsd:string) AnnotationAssertion( "CHROMOSOME 4p16.3 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Chromosome 4p Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 4p Monosomy"^^xsd:string) AnnotationAssertion( "Chromosome 4p Syndrome"^^xsd:string) AnnotationAssertion( "Del(4p) Syndrome"^^xsd:string) AnnotationAssertion( "Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation"^^xsd:string) AnnotationAssertion( "PRDS"^^xsd:string) AnnotationAssertion( "Partial Monosomy 4p"^^xsd:string) AnnotationAssertion( "Pitt Rogers Danks Syndrome"^^xsd:string) AnnotationAssertion( "Pitt Syndrome"^^xsd:string) AnnotationAssertion( "Pitt Syndromes"^^xsd:string) AnnotationAssertion( "WHS"^^xsd:string) AnnotationAssertion( "Wolf Hirchhorn syndrome"^^xsd:string) AnnotationAssertion( "Wolf syndrome"^^xsd:string) AnnotationAssertion( "chromosome 4p syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050460"^^xsd:string) AnnotationAssertion(rdfs:label "Wolf-Hirschhorn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aspartylglucosaminuria) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria"^^xsd:string) "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538402"^^xsd:string) AnnotationAssertion( "MIM:208400"^^xsd:string) AnnotationAssertion( "GARD:5854"^^xsd:string) AnnotationAssertion( "MESH:D054880"^^xsd:string) AnnotationAssertion( "NCI:C61273"^^xsd:string) AnnotationAssertion( "AGA deficiencies"^^xsd:string) AnnotationAssertion( "AGA deficiency"^^xsd:string) AnnotationAssertion( "AGU"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase (AGA) deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase deficiencies"^^xsd:string) AnnotationAssertion( "aspartylglucosamidase deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosaminidase deficiency"^^xsd:string) AnnotationAssertion( "aspartylglucosaminuria, Finnish type"^^xsd:string) AnnotationAssertion( "aspartylglucosaminurias"^^xsd:string) AnnotationAssertion( "aspartylglycosaminuria"^^xsd:string) AnnotationAssertion( "aspartylglycosaminuria, Finnish type"^^xsd:string) AnnotationAssertion( "aspartylglycosaminurias"^^xsd:string) AnnotationAssertion( "glycoasparaginase"^^xsd:string) AnnotationAssertion( "glycoasparaginases"^^xsd:string) AnnotationAssertion( "glycosylasparaginase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050461"^^xsd:string) AnnotationAssertion(rdfs:label "aspartylglucosaminuria"^^xsd:string) SubClassOf( ) # Class: (Antley-Bixler syndrome with disordered steroidogenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Antley-Bixler_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35070845/"^^xsd:string) "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003979"^^xsd:string) AnnotationAssertion( "MIM:201750"^^xsd:string) AnnotationAssertion( "NCI:C174439"^^xsd:string) AnnotationAssertion( "NCI:C178415"^^xsd:string) AnnotationAssertion( "ABS1"^^xsd:string) AnnotationAssertion( "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome like phenotype with disordered steroidogenesis"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase"^^xsd:string) AnnotationAssertion( "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency"^^xsd:string) AnnotationAssertion( "Multisynostotic Osteodysgenesis"^^xsd:string) AnnotationAssertion( "POR deficiency"^^xsd:string) AnnotationAssertion( "multisynostotic osteodysgenesis with fractures"^^xsd:string) AnnotationAssertion( "trapezoidocephaly synostosis syndrome"^^xsd:string) AnnotationAssertion( "trapezoidocephaly-synostosis syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050462"^^xsd:string) AnnotationAssertion(rdfs:label "Antley-Bixler syndrome with disordered steroidogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (campomelic dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Campomelic_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/campomelic-dysplasia"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/campomelic-dysplasia-1"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:114290"^^xsd:string) AnnotationAssertion( "CMPD1/SRA1"^^xsd:string) AnnotationAssertion( "SOX9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0004140"^^xsd:string) AnnotationAssertion( "GARD:10027"^^xsd:string) AnnotationAssertion( "MESH:D055036"^^xsd:string) AnnotationAssertion( "MONDO:0007251"^^xsd:string) AnnotationAssertion( "NCI:C120205"^^xsd:string) AnnotationAssertion( "NCI:C84609"^^xsd:string) AnnotationAssertion( "ORDO:140"^^xsd:string) AnnotationAssertion( "CMD1"^^xsd:string) AnnotationAssertion( "CMPD"^^xsd:string) AnnotationAssertion( "CMPD1"^^xsd:string) AnnotationAssertion( "campomelic dwarfism"^^xsd:string) AnnotationAssertion( "campomelic dwarfisms"^^xsd:string) AnnotationAssertion( "campomelic dysplasias"^^xsd:string) AnnotationAssertion( "campomelic syndrome"^^xsd:string) AnnotationAssertion( "campomelic syndromes"^^xsd:string) AnnotationAssertion( "camptomelic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasia"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasia with autosomal sex reversal"^^xsd:string) AnnotationAssertion( "acampomelic campomelic dysplasias"^^xsd:string) AnnotationAssertion( "campomelic dysplasia with autosomal sex reversal"^^xsd:string) AnnotationAssertion( "DOID:0050463"^^xsd:string) AnnotationAssertion(rdfs:label "campomelic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Farber lipogranulomatosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Farber_disease"^^xsd:string) "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228000"^^xsd:string) AnnotationAssertion( "GARD:6426"^^xsd:string) AnnotationAssertion( "MESH:D055577"^^xsd:string) AnnotationAssertion( "NCI:C84710"^^xsd:string) AnnotationAssertion( "ORDO:333"^^xsd:string) AnnotationAssertion( "AC deficiency"^^xsd:string) AnnotationAssertion( "Ceramidase Deficiency"^^xsd:string) AnnotationAssertion( "FRBRL"^^xsd:string) AnnotationAssertion( "Farber Disease"^^xsd:string) AnnotationAssertion( "Farber's Disease"^^xsd:string) AnnotationAssertion( "Farber's diseases"^^xsd:string) AnnotationAssertion( "Farber's lipogranulomatosis"^^xsd:string) AnnotationAssertion( "Farbers Disease"^^xsd:string) AnnotationAssertion( "N-laurylsphingosine deacylase deficiencies"^^xsd:string) AnnotationAssertion( "N-laurylsphingosine deacylase deficiency"^^xsd:string) AnnotationAssertion( "acid ceramidase deficiencies"^^xsd:string) AnnotationAssertion( "acid ceramidase deficiency"^^xsd:string) AnnotationAssertion( "ceramidase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050464"^^xsd:string) AnnotationAssertion(rdfs:label "Farber lipogranulomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muir-Torre syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome"^^xsd:string) "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158320"^^xsd:string) AnnotationAssertion( "GARD:6821"^^xsd:string) AnnotationAssertion( "MESH:D055653"^^xsd:string) AnnotationAssertion( "NCI:C84905"^^xsd:string) AnnotationAssertion( "ORDO:587"^^xsd:string) AnnotationAssertion( "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS"^^xsd:string) AnnotationAssertion( "MRTES"^^xsd:string) AnnotationAssertion( "Muir-Torré syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050465"^^xsd:string) AnnotationAssertion(rdfs:label "Muir-Torre syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome"^^xsd:string) "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538192"^^xsd:string) AnnotationAssertion( "GARD:10788"^^xsd:string) AnnotationAssertion( "MESH:D055947"^^xsd:string) AnnotationAssertion( "MIM:PS609192"^^xsd:string) AnnotationAssertion( "NCI:C75006"^^xsd:string) AnnotationAssertion( "ORDO:60030"^^xsd:string) AnnotationAssertion( "Loeys Dietz aortic aneurysm syndrome"^^xsd:string) AnnotationAssertion( "Loeys Dietz syndrome, type 1A"^^xsd:string) AnnotationAssertion( "Marfanoid disorder with craniosynostosis, type 2"^^xsd:string) AnnotationAssertion( "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050466"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythrokeratodermia variabilis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis"^^xsd:string) "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D056266"^^xsd:string) AnnotationAssertion( "MIM:PS133200"^^xsd:string) AnnotationAssertion( "NCI:C84696"^^xsd:string) AnnotationAssertion( "ORDO:317"^^xsd:string) AnnotationAssertion( "EKV"^^xsd:string) AnnotationAssertion( "EKVP"^^xsd:string) AnnotationAssertion( "Mendes De Costa syndrome"^^xsd:string) AnnotationAssertion( "PSEK"^^xsd:string) AnnotationAssertion( "erythro et keratodermia variabilis"^^xsd:string) AnnotationAssertion( "erythrokeratodermia figurata variabilis"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis et progressiva"^^xsd:string) AnnotationAssertion( "progressive symmetric erythrokeratodermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050467"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (yellow nail syndrome) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28241848"^^xsd:string) "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153300"^^xsd:string) AnnotationAssertion( "EFO:1001452"^^xsd:string) AnnotationAssertion( "GARD:184"^^xsd:string) AnnotationAssertion( "ICD10CM:L60.5"^^xsd:string) AnnotationAssertion( "MESH:D056684"^^xsd:string) AnnotationAssertion( "NCI:C85238"^^xsd:string) AnnotationAssertion( "YNS"^^xsd:string) AnnotationAssertion( "lymphedema and yellow nails"^^xsd:string) AnnotationAssertion( "yellow nail syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050468"^^xsd:string) AnnotationAssertion(rdfs:label "yellow nail syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Costello syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17250658"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/907573"^^xsd:string) "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO)"^^xsd:string) AnnotationAssertion( "MIM:218040"^^xsd:string) AnnotationAssertion( "GARD:1550"^^xsd:string) AnnotationAssertion( "MESH:D056685"^^xsd:string) AnnotationAssertion( "NCI:C84652"^^xsd:string) AnnotationAssertion( "CSTLO"^^xsd:string) AnnotationAssertion( "FCS syndrome"^^xsd:string) AnnotationAssertion( "FCS syndromes"^^xsd:string) AnnotationAssertion( "faciocutaneoskeletal syndrome"^^xsd:string) AnnotationAssertion( "faciocutaneoskeletal syndromes"^^xsd:string) AnnotationAssertion( "CMEMS"^^xsd:string) AnnotationAssertion( "congenital myopathy with excess of muscle spindles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050469"^^xsd:string) AnnotationAssertion(rdfs:label "Costello syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Donohue syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Donohue_syndrome"^^xsd:string) "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562709"^^xsd:string) AnnotationAssertion( "MIM:246200"^^xsd:string) AnnotationAssertion( "MESH:D056731"^^xsd:string) AnnotationAssertion( "NCI:C131000"^^xsd:string) AnnotationAssertion( "NCI:C84676"^^xsd:string) AnnotationAssertion( "ORDO:508"^^xsd:string) AnnotationAssertion( "leprechaunism"^^xsd:string) AnnotationAssertion( "leprechaunism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "defect in insulin receptor"^^xsd:string) AnnotationAssertion( "DOID:0050470"^^xsd:string) AnnotationAssertion(rdfs:label "Donohue syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carney complex) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carney_complex"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carney-complex"^^xsd:string) "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160980"^^xsd:string) AnnotationAssertion( "MIM:605244"^^xsd:string) AnnotationAssertion( "GARD:1119"^^xsd:string) AnnotationAssertion( "MESH:D056733"^^xsd:string) AnnotationAssertion( "NCI:C4705"^^xsd:string) AnnotationAssertion( "ORDO:1359"^^xsd:string) AnnotationAssertion( "CAR"^^xsd:string) AnnotationAssertion( "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2"^^xsd:string) AnnotationAssertion( "CNC1"^^xsd:string) AnnotationAssertion( "CNC2"^^xsd:string) AnnotationAssertion( "Carney Myxoma Endocrine Complex"^^xsd:string) AnnotationAssertion( "Carney Myxoma Endocrine Complex, Type II"^^xsd:string) AnnotationAssertion( "Carney complex, type 1"^^xsd:string) AnnotationAssertion( "Carney complex, type 2"^^xsd:string) AnnotationAssertion( "Carney complex, type I"^^xsd:string) AnnotationAssertion( "Carney complex, type II"^^xsd:string) AnnotationAssertion( "Carney syndrome"^^xsd:string) AnnotationAssertion( "LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome"^^xsd:string) AnnotationAssertion( "LAMB syndrome"^^xsd:string) AnnotationAssertion( "NAME syndrome"^^xsd:string) AnnotationAssertion( "myxoma, spotty pigmentation, and endocrine overactivity"^^xsd:string) AnnotationAssertion( "nevi, atrial myxoma, skin myxoma, ephelides syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050471"^^xsd:string) AnnotationAssertion(rdfs:label "Carney complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (monilethrix) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/monilethrix"^^xsd:string) "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158000"^^xsd:string) AnnotationAssertion( "GARD:93"^^xsd:string) AnnotationAssertion( "ICD10CM:Q84.1"^^xsd:string) AnnotationAssertion( "MESH:D056734"^^xsd:string) AnnotationAssertion( "NCI:C84894"^^xsd:string) AnnotationAssertion( "MNLIX"^^xsd:string) AnnotationAssertion( "monilethrices"^^xsd:string) AnnotationAssertion( "nodose hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050472"^^xsd:string) AnnotationAssertion(rdfs:label "monilethrix"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alstrom syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alstrom_syndrome"^^xsd:string) "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203800"^^xsd:string) AnnotationAssertion( "EFO:MONDO:0008763"^^xsd:string) AnnotationAssertion( "MESH:D056769"^^xsd:string) AnnotationAssertion( "NCI:C84549"^^xsd:string) AnnotationAssertion( "ALMS"^^xsd:string) AnnotationAssertion( "ALMS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ALSS"^^xsd:string) AnnotationAssertion( "Alstrom Hallgren syndrome"^^xsd:string) AnnotationAssertion( "Alstrom syndrome"^^xsd:string) AnnotationAssertion( "Alstrom's syndrome"^^xsd:string) AnnotationAssertion( "Alstroms syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050473"^^xsd:string) AnnotationAssertion(rdfs:label "Alstrom syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Netherton syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/netherton-syndrome"^^xsd:string) "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256500"^^xsd:string) AnnotationAssertion( "GARD:7182"^^xsd:string) AnnotationAssertion( "MESH:D056770"^^xsd:string) AnnotationAssertion( "NCI:C84922"^^xsd:string) AnnotationAssertion( "ORDO:634"^^xsd:string) AnnotationAssertion( "Comel-Netherton syndrome"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS LINEARIS CIRCUMFLEXA"^^xsd:string) AnnotationAssertion( "NETH"^^xsd:string) AnnotationAssertion( "NS"^^xsd:string) AnnotationAssertion( "Netherton disease"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma with hypotrichosis and hyper-IgE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050474"^^xsd:string) AnnotationAssertion(rdfs:label "Netherton syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weill-Marchesani syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome"^^xsd:string) "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4936"^^xsd:string) AnnotationAssertion( "MESH:D056846"^^xsd:string) AnnotationAssertion( "MIM:PS277600"^^xsd:string) AnnotationAssertion( "NCI:C85226"^^xsd:string) AnnotationAssertion( "ORDO:3449"^^xsd:string) AnnotationAssertion( "Marchesani Syndrome"^^xsd:string) AnnotationAssertion( "Marchesani-Weill syndromes"^^xsd:string) AnnotationAssertion( "congenital mesodermal dysmorphodystrophies"^^xsd:string) AnnotationAssertion( "congenital mesodermal dysmorphodystrophy"^^xsd:string) AnnotationAssertion( "congenital mesodermal dystrophy"^^xsd:string) AnnotationAssertion( "spherophakia brachymorphia syndrome"^^xsd:string) AnnotationAssertion( "spherophakia brachymorphia syndromes"^^xsd:string) AnnotationAssertion( "Weill Marchesani syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050475"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Barth syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Barth_syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/barth/barth.htm"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302060"^^xsd:string) AnnotationAssertion( "GARD:5890"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.71"^^xsd:string) AnnotationAssertion( "MESH:D056889"^^xsd:string) AnnotationAssertion( "NCI:C84585"^^xsd:string) AnnotationAssertion( "ORDO:111"^^xsd:string) AnnotationAssertion( "3 methylglutaconicaciduria type 2"^^xsd:string) AnnotationAssertion( "3-Methylglutaconicaciduria Type II"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type 2"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type II"^^xsd:string) AnnotationAssertion( "BTHS"^^xsd:string) AnnotationAssertion( "MGA type 2"^^xsd:string) AnnotationAssertion( "MGA type II"^^xsd:string) AnnotationAssertion( "MGA2"^^xsd:string) AnnotationAssertion( "MGCA2"^^xsd:string) AnnotationAssertion( "X-linked cardioskeletal myopathy and neutropenia"^^xsd:string) AnnotationAssertion( "cardioskeletal myopathy with neutropenia and abnormal mitochondria"^^xsd:string) AnnotationAssertion( "cardioskeletal myopathy-neutropenia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050476"^^xsd:string) AnnotationAssertion(rdfs:label "Barth syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Liddle syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Liddle%27s_syndrome"^^xsd:string) "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7381"^^xsd:string) AnnotationAssertion( "MESH:D056929"^^xsd:string) AnnotationAssertion( "MIM:PS177200"^^xsd:string) AnnotationAssertion( "NCI:C84827"^^xsd:string) AnnotationAssertion( "LIDLS"^^xsd:string) AnnotationAssertion( "Liddle's syndrome"^^xsd:string) AnnotationAssertion( "pseudoaldosteronism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050477"^^xsd:string) AnnotationAssertion(rdfs:label "Liddle syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidemic typhus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epidemic_typhus"^^xsd:string) "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014438"^^xsd:string) AnnotationAssertion( "epidemic louse-borne typhus fever due to Rickettsia prowazekii"^^xsd:string) AnnotationAssertion( "jail fever"^^xsd:string) AnnotationAssertion( "louse-borne epidemic typhus"^^xsd:string) AnnotationAssertion( "louse-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "louse-borne typhus"^^xsd:string) AnnotationAssertion( "sylvatic typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050480"^^xsd:string) AnnotationAssertion(rdfs:label "epidemic typhus"^^xsd:string) SubClassOf( ) # Class: (endemic typhus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Murine_typhus"^^xsd:string) "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014437"^^xsd:string) AnnotationAssertion( "MONDO:0000330"^^xsd:string) AnnotationAssertion( "NCI:C84688"^^xsd:string) AnnotationAssertion( "ORDO:83315"^^xsd:string) AnnotationAssertion( "cat flea rickettsiosis"^^xsd:string) AnnotationAssertion( "endemic flea-borne typhus"^^xsd:string) AnnotationAssertion( "endemic typhus fever"^^xsd:string) AnnotationAssertion( "flea-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "flea-borne typhus"^^xsd:string) AnnotationAssertion( "fleaborne typhus"^^xsd:string) AnnotationAssertion( "murine [endemic] typhus"^^xsd:string) AnnotationAssertion( "murine typhus"^^xsd:string) AnnotationAssertion( "rat-flea typhus"^^xsd:string) AnnotationAssertion( "rickettsia felis spotted fever"^^xsd:string) AnnotationAssertion( "shop typhus"^^xsd:string) AnnotationAssertion( "toulon typhus"^^xsd:string) AnnotationAssertion( "urban typhus"^^xsd:string) AnnotationAssertion( "urban typhus of Malaya"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050481"^^xsd:string) AnnotationAssertion(rdfs:label "endemic typhus"^^xsd:string) SubClassOf( ) # Class: (aneruptive fever) AnnotationAssertion(Annotation( "http://jcm.asm.org/cgi/reprint/42/2/816"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "Rickettsia helvetica spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050484"^^xsd:string) AnnotationAssertion(rdfs:label "aneruptive fever"^^xsd:string) SubClassOf( ) # Class: (sennetsu fever) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/sennetsu-fever/"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO)"^^xsd:string) AnnotationAssertion( "GARD:120"^^xsd:string) AnnotationAssertion( "MESH:C537582"^^xsd:string) AnnotationAssertion( "Human Ehrlichial infection, Sennetsu type"^^xsd:string) AnnotationAssertion( "Sennetsu ehrlichiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050485"^^xsd:string) AnnotationAssertion(rdfs:label "sennetsu fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exanthem) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Exanthem"^^xsd:string) "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000697"^^xsd:string) AnnotationAssertion( "ICD10CM:R21"^^xsd:string) AnnotationAssertion( "ICD9CM:782.1"^^xsd:string) AnnotationAssertion( "MESH:D005076"^^xsd:string) AnnotationAssertion( "NCI:C111884"^^xsd:string) AnnotationAssertion( "NCI:C39594"^^xsd:string) AnnotationAssertion( "exanthema"^^xsd:string) AnnotationAssertion( "rash"^^xsd:string) AnnotationAssertion( "skin rash"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050486"^^xsd:string) AnnotationAssertion(rdfs:label "exanthem"^^xsd:string) SubClassOf( ) # Class: (bacterial exanthem) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Scarlet_fever#Rash"^^xsd:string) "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000671"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050487"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial exanthem"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (early congenital syphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string) "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050488"^^xsd:string) AnnotationAssertion(rdfs:label "early congenital syphilis"^^xsd:string) SubClassOf( ) # Class: (multinodular goiter) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multinodular_goitre"^^xsd:string) "A goiter characterized by a multinodular enlargement of the thyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS138800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050489"^^xsd:string) AnnotationAssertion(rdfs:label "multinodular goiter"^^xsd:string) SubClassOf( ) # Class: (parenchymatous neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002432"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050490"^^xsd:string) AnnotationAssertion(rdfs:label "parenchymatous neurosyphilis"^^xsd:string) SubClassOf( ) # Class: (meningovascular neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050491"^^xsd:string) AnnotationAssertion(rdfs:label "meningovascular neurosyphilis"^^xsd:string) SubClassOf( ) # Class: (exanthema subitum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Exanthema_subitum"^^xsd:string) "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001320"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.2"^^xsd:string) AnnotationAssertion( "ICD9CM:058.1"^^xsd:string) AnnotationAssertion( "MESH:D005077"^^xsd:string) AnnotationAssertion( "Roseola Infantum"^^xsd:string) AnnotationAssertion( "Sixth Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050495"^^xsd:string) AnnotationAssertion(rdfs:label "exanthema subitum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (variola major) AnnotationAssertion(Annotation( "http://www.who.int/csr/disease/smallpox/en/"^^xsd:string) "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:050.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050508"^^xsd:string) AnnotationAssertion(rdfs:label "variola major"^^xsd:string) SubClassOf( ) # Class: (spinal polio) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string) "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050513"^^xsd:string) AnnotationAssertion(rdfs:label "spinal polio"^^xsd:string) SubClassOf( ) # Class: (bulbospinal polio) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string) "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050514"^^xsd:string) AnnotationAssertion(rdfs:label "bulbospinal polio"^^xsd:string) SubClassOf( ) # Class: (paralytic poliomyelitis) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string) Annotation( "https://www.sciencedirect.com/topics/neuroscience/paralytic-polio"^^xsd:string) "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050515"^^xsd:string) AnnotationAssertion(rdfs:label "paralytic poliomyelitis"^^xsd:string) SubClassOf( ) # Class: (O'nyong'nyong fever) AnnotationAssertion(Annotation( "http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050516"^^xsd:string) AnnotationAssertion(rdfs:label "O'nyong'nyong fever"^^xsd:string) SubClassOf( ) # Class: (Barmah Forest virus disease) AnnotationAssertion(Annotation( "https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050517"^^xsd:string) AnnotationAssertion(rdfs:label "Barmah Forest virus disease"^^xsd:string) SubClassOf( ) # Class: (Ross River fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ross_River_fever"^^xsd:string) "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "Ross River virus disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050518"^^xsd:string) AnnotationAssertion(rdfs:label "Ross River fever"^^xsd:string) SubClassOf( ) # Class: (Oropouche fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oropouche_fever"^^xsd:string) Annotation( "http://www.cdc.gov/EID/content/13/6/912.htm"^^xsd:string) "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050521"^^xsd:string) AnnotationAssertion(rdfs:label "Oropouche fever"^^xsd:string) SubClassOf( ) # Class: (Balkan hemorrhagic fever) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome"^^xsd:string) "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050522"^^xsd:string) AnnotationAssertion(rdfs:label "Balkan hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (adult T-cell leukemia/lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma"^^xsd:string) Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184"^^xsd:string) "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13103"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.5"^^xsd:string) AnnotationAssertion( "ICDO:9827/3"^^xsd:string) AnnotationAssertion( "MESH:D015459"^^xsd:string) AnnotationAssertion( "ATLL"^^xsd:string) AnnotationAssertion( "Adult T-cell leukemia/lymphoma (HTLV-1 positive)"^^xsd:string) AnnotationAssertion( "HTLV Associated Leukemia Lymphoma"^^xsd:string) AnnotationAssertion( "HTLV I Associated T Cell Leukemia Lymphoma"^^xsd:string) AnnotationAssertion( "HTLV-Associated Leukemia-Lymphomas"^^xsd:string) AnnotationAssertion( "HTLV-I-Associated T-Cell Leukemia-Lymphomas"^^xsd:string) AnnotationAssertion( "acute T-cell leukemia lymphoma, HTLV I associated"^^xsd:string) AnnotationAssertion( "adult T-cell leukemia"^^xsd:string) AnnotationAssertion( "adult T-cell leukemia-lymphomas"^^xsd:string) AnnotationAssertion( "adult T-cell leukemias"^^xsd:string) AnnotationAssertion( "human T lymphotropic virus associated leukemia lymphoma"^^xsd:string) AnnotationAssertion( "human T-cell leukemia lymphoma"^^xsd:string) AnnotationAssertion( "human T-cell leukemia-lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050523"^^xsd:string) AnnotationAssertion(rdfs:label "adult T-cell leukemia/lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maturity-onset diabetes of the young) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young"^^xsd:string) "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606391"^^xsd:string) AnnotationAssertion( "GARD:3697"^^xsd:string) AnnotationAssertion( "ICD10CM:E11.8"^^xsd:string) AnnotationAssertion( "MESH:C562772"^^xsd:string) AnnotationAssertion( "NCI:C114769"^^xsd:string) AnnotationAssertion( "ORDO:552"^^xsd:string) AnnotationAssertion( "MODY"^^xsd:string) AnnotationAssertion( "Mason-type diabetes"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes mellitus in young"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050524"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gamstorp-Wohlfart syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia"^^xsd:string) "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137200"^^xsd:string) AnnotationAssertion( "GARD:12353"^^xsd:string) AnnotationAssertion( "MESH:D020386"^^xsd:string) AnnotationAssertion( "NCI:C202012"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA"^^xsd:string) AnnotationAssertion( "Continuous Myokymia"^^xsd:string) AnnotationAssertion( "Isaac Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Mertens Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Pseudomyotonia Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs Syndrome"^^xsd:string) AnnotationAssertion( "Isaacs-Mertens Syndromes"^^xsd:string) AnnotationAssertion( "Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis"^^xsd:string) AnnotationAssertion( "NMAN"^^xsd:string) AnnotationAssertion( "Neuromyotonia"^^xsd:string) AnnotationAssertion( "Pseudomyotonia"^^xsd:string) AnnotationAssertion( "acquired neuromyotonia"^^xsd:string) AnnotationAssertion( "autosomal recessive neuromyotonia and axonal neuropathy"^^xsd:string) AnnotationAssertion( "continuous muscle activity syndrome"^^xsd:string) AnnotationAssertion( "continuous myokymias"^^xsd:string) AnnotationAssertion( "myokymia, myotonia and muscle wasting"^^xsd:string) AnnotationAssertion( "pseudomyotonia syndrome of Isaacs"^^xsd:string) AnnotationAssertion( "quantal squander"^^xsd:string) AnnotationAssertion( "syndrome of continuous muscle activity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050526"^^xsd:string) AnnotationAssertion(rdfs:label "Gamstorp-Wohlfart syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy 4) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string) "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234050"^^xsd:string) AnnotationAssertion( "MESH:C536556"^^xsd:string) AnnotationAssertion( "NCI:C146899"^^xsd:string) AnnotationAssertion( "HAIR-BRAIN SYNDROME"^^xsd:string) AnnotationAssertion( "Pollitt syndrome"^^xsd:string) AnnotationAssertion( "TTD4"^^xsd:string) AnnotationAssertion( "TTDN1"^^xsd:string) AnnotationAssertion( "nonphotosensitive trichothiodystrophy 1"^^xsd:string) AnnotationAssertion( "trichorrhexis nodosa syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy-neurocutaneous syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050528"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult spinal muscular atrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string) "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538417"^^xsd:string) AnnotationAssertion( "MESH:C563948"^^xsd:string) AnnotationAssertion( "MIM:271150"^^xsd:string) AnnotationAssertion( "ORDO:83420"^^xsd:string) AnnotationAssertion( "SMA4"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 4"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, adult form"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, proximal, adult, autosomal recessive"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050529"^^xsd:string) AnnotationAssertion(rdfs:label "adult spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermediate spinal muscular atrophy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2"^^xsd:string) "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:253550"^^xsd:string) AnnotationAssertion( "MONDO:0009673"^^xsd:string) AnnotationAssertion( "NCI:C156310"^^xsd:string) AnnotationAssertion( "ORDO:83418"^^xsd:string) AnnotationAssertion( "SMA II"^^xsd:string) AnnotationAssertion( "SMA2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, infantile chronic form"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, intermediate type"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type 2"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050530"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness) AnnotationAssertion(Annotation( "http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1245/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/"^^xsd:string) Annotation( "http://www.omim.org/entry/610444"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215"^^xsd:string) "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536122"^^xsd:string) AnnotationAssertion( "MIM:PS310500"^^xsd:string) AnnotationAssertion( "ORDO:215"^^xsd:string) AnnotationAssertion( "CRSD"^^xsd:string) AnnotationAssertion( "congenital essential nyctalopia"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1"^^xsd:string) AnnotationAssertion( "hemeralopia-myopia"^^xsd:string) AnnotationAssertion( "CSNB, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "CSNB, incomplete, X-linked"^^xsd:string) AnnotationAssertion( "CSNB, incomplete, autosomal recessive"^^xsd:string) AnnotationAssertion( "NBM1 nyctalopia"^^xsd:string) AnnotationAssertion( "X-linked CSNB"^^xsd:string) AnnotationAssertion( "X-linked congenital stationary night blindness"^^xsd:string) AnnotationAssertion( "XLCSNB"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, dominant"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, recessive"^^xsd:string) AnnotationAssertion( "myopia-night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050534"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy"^^xsd:string) "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1613"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.00"^^xsd:string) AnnotationAssertion( "ICD9CM:362.10"^^xsd:string) AnnotationAssertion( "MESH:D000080345"^^xsd:string) AnnotationAssertion( "MIM:PS133780"^^xsd:string) AnnotationAssertion( "ORDO:891"^^xsd:string) AnnotationAssertion( "FEVR"^^xsd:string) AnnotationAssertion( "familial exudative vitreoretinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050535"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (posterior polar cataract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/"^^xsd:string) "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050537"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polar cataract"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002093"^^xsd:string) AnnotationAssertion( "RDO:9002804"^^xsd:string) AnnotationAssertion( "GARD:12433"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth disease, type I"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth, type 1"^^xsd:string) AnnotationAssertion( "HMN distal type I"^^xsd:string) AnnotationAssertion( "HMSN I"^^xsd:string) AnnotationAssertion( "HMSN type I"^^xsd:string) AnnotationAssertion( "HMSN1"^^xsd:string) AnnotationAssertion( "Hereditary Type I Motor and Sensory Neuropathy"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050538"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25098539"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12431"^^xsd:string) AnnotationAssertion( "ICD9CM:356.0"^^xsd:string) AnnotationAssertion( "ORDO:64746"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type II"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, type 2"^^xsd:string) AnnotationAssertion( "HMSN II"^^xsd:string) AnnotationAssertion( "HMSN type II"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy Guadalajara neuronal type"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy Okinawa type"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 2"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050539"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 3) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease"^^xsd:string) "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "PRX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9204"^^xsd:string) AnnotationAssertion( "MIM:145900"^^xsd:string) AnnotationAssertion( "MONDO:0007790"^^xsd:string) AnnotationAssertion( "NCI:C133087"^^xsd:string) AnnotationAssertion( "ORDO:64748"^^xsd:string) AnnotationAssertion( "CMT3"^^xsd:string) AnnotationAssertion( "DSN"^^xsd:string) AnnotationAssertion( "DSS"^^xsd:string) AnnotationAssertion( "Dejerine Sottas disease"^^xsd:string) AnnotationAssertion( "Dejerine Sottas neuropathy"^^xsd:string) AnnotationAssertion( "Dejerine Sottas syndrome"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas hypertrophic neuropathy"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Dejerine-Sottas syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "HMSN type III"^^xsd:string) AnnotationAssertion( "HMSN3"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 3"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type III"^^xsd:string) AnnotationAssertion( "hypertrophic neuropathy of Dejerine Sottas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050540"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12440"^^xsd:string) AnnotationAssertion( "ORDO:64749"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type IV"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, type 4"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050541"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type X) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm"^^xsd:string) "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:64747"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy X"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050542"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type X"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease intermediate type) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16775371"^^xsd:string) "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease dominant intermediate"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease recessive intermediate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth, intermediate"^^xsd:string) AnnotationAssertion( "DOID:0050543"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease intermediate type"^^xsd:string) SubClassOf( ) # Class: (hypermethioninemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypermethioninemia"^^xsd:string) "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250850"^^xsd:string) AnnotationAssertion( "EFO:0009069"^^xsd:string) AnnotationAssertion( "MESH:C564683"^^xsd:string) AnnotationAssertion( "NCI:C123435"^^xsd:string) AnnotationAssertion( "Deficiency of Methionine Adenosyltransferase"^^xsd:string) AnnotationAssertion( "Hepatic Methionine Adenosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Hypermethioninemia, Isolated Persistent"^^xsd:string) AnnotationAssertion( "MAT DEFICIENCY"^^xsd:string) AnnotationAssertion( "MAT I/III DEFICIENCY"^^xsd:string) AnnotationAssertion( "Methioninemia"^^xsd:string) AnnotationAssertion( "S-Adenosylhomocysteine Hydrolase Deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase I/III deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "methionine adenosyltransferase deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050544"^^xsd:string) AnnotationAssertion(rdfs:label "hypermethioninemia"^^xsd:string) SubClassOf( ) # Class: (visceral heterotaxy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Situs_ambiguus"^^xsd:string) "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208530"^^xsd:string) AnnotationAssertion( "GDF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GDF1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "EFO:0009081"^^xsd:string) AnnotationAssertion( "GARD:10875"^^xsd:string) AnnotationAssertion( "MESH:D059446"^^xsd:string) AnnotationAssertion( "MIM:PS306955"^^xsd:string) AnnotationAssertion( "ORDO:450"^^xsd:string) AnnotationAssertion( "Left Atrial Isomerism"^^xsd:string) AnnotationAssertion( "Left Atrial Isomerism with Polysplenia"^^xsd:string) AnnotationAssertion( "Polysplenia Syndrome"^^xsd:string) AnnotationAssertion( "Polysplenia Syndromes"^^xsd:string) AnnotationAssertion( "RAI"^^xsd:string) AnnotationAssertion( "asplenia syndrome"^^xsd:string) AnnotationAssertion( "asplenia syndromes"^^xsd:string) AnnotationAssertion( "asplenia with cardiovascular anomalies"^^xsd:string) AnnotationAssertion( "bilateral right-sidedness sequence"^^xsd:string) AnnotationAssertion( "heterotaxia"^^xsd:string) AnnotationAssertion( "heterotaxia syndrome"^^xsd:string) AnnotationAssertion( "heterotaxy syndrome"^^xsd:string) AnnotationAssertion( "heterotaxy syndromes"^^xsd:string) AnnotationAssertion( "left atrial isomerisms"^^xsd:string) AnnotationAssertion( "situs ambiguus"^^xsd:string) AnnotationAssertion( "situs ambiguus viscerum"^^xsd:string) AnnotationAssertion( "situs ambiguus viscerums"^^xsd:string) AnnotationAssertion( "situs ambiguus with asplenia"^^xsd:string) AnnotationAssertion( "situs ambiguus with polysplenia"^^xsd:string) AnnotationAssertion( "visceral heterotaxies"^^xsd:string) AnnotationAssertion( "HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "POLYASPLENIA"^^xsd:string) AnnotationAssertion( "VAH, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050545"^^xsd:string) AnnotationAssertion(rdfs:label "visceral heterotaxy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital adrenal insufficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adrenal_insufficiency"^^xsd:string) "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566131"^^xsd:string) AnnotationAssertion( "MIM:613743"^^xsd:string) AnnotationAssertion( "MESH:C566130"^^xsd:string) AnnotationAssertion( "P450scc deficiency"^^xsd:string) AnnotationAssertion( "congenital adrenal insufficiency, with 46,XY sex reversal"^^xsd:string) AnnotationAssertion( "congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050546"^^xsd:string) AnnotationAssertion(rdfs:label "congenital adrenal insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial medullary thyroid carcinoma) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) Annotation( "https://www.omim.org/entry/155240"^^xsd:string) "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001957"^^xsd:string) AnnotationAssertion( "MESH:C536911"^^xsd:string) AnnotationAssertion( "MIM:155240"^^xsd:string) AnnotationAssertion( "MONDO:0007958"^^xsd:string) AnnotationAssertion( "FMTC"^^xsd:string) AnnotationAssertion( "MEN2A and FMTC"^^xsd:string) AnnotationAssertion( "MTC"^^xsd:string) AnnotationAssertion( "MTC1"^^xsd:string) AnnotationAssertion( "familial medullary thyroid cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050547"^^xsd:string) AnnotationAssertion(rdfs:label "familial medullary thyroid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy) AnnotationAssertion(Annotation( "http://omim.org/entry/616488?search=616488&highlight=616488"^^xsd:string) "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001514"^^xsd:string) AnnotationAssertion( "MESH:D009477"^^xsd:string) AnnotationAssertion( "MIM:PS162400"^^xsd:string) AnnotationAssertion( "HSAN"^^xsd:string) AnnotationAssertion( "HSAN (hereditary sensory autonomic neuropathy)"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathies"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathies"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathies"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, recessive form"^^xsd:string) AnnotationAssertion( "AMS"^^xsd:string) AnnotationAssertion( "acral mutilation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050548"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (proteasome-associated autoinflammatory syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21129723/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21852578/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21881205/"^^xsd:string) Annotation( "https://www.nomidalliance.org/candle.php"^^xsd:string) "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10988"^^xsd:string) AnnotationAssertion( "GARD:3916"^^xsd:string) AnnotationAssertion( "GARD:3917"^^xsd:string) AnnotationAssertion( "MIM:256040"^^xsd:string) AnnotationAssertion( "NCI:C176619"^^xsd:string) AnnotationAssertion( "ORDO:324999"^^xsd:string) AnnotationAssertion( "ALDD"^^xsd:string) AnnotationAssertion( "CANDLE"^^xsd:string) AnnotationAssertion( "JMP syndrome"^^xsd:string) AnnotationAssertion( "NKJO"^^xsd:string) AnnotationAssertion( "Nakajo-Nishimura syndrome"^^xsd:string) AnnotationAssertion( "PRAAS1"^^xsd:string) AnnotationAssertion( "autoinflammation, lipodystrophy, and dermatosis syndrome"^^xsd:string) AnnotationAssertion( "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"^^xsd:string) AnnotationAssertion( "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy"^^xsd:string) AnnotationAssertion( "proteasome-associated autoinflammatory syndrome 1, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050553"^^xsd:string) AnnotationAssertion(rdfs:label "proteasome-associated autoinflammatory syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked sideroblastic anemia with ataxia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia"^^xsd:string) "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060064"^^xsd:string) AnnotationAssertion( "GARD:668"^^xsd:string) AnnotationAssertion( "MESH:C536358"^^xsd:string) AnnotationAssertion( "MIM:301310"^^xsd:string) AnnotationAssertion( "MONDO:0010524"^^xsd:string) AnnotationAssertion( "ASAT"^^xsd:string) AnnotationAssertion( "Anemia, sideroblastic, spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "Pagon Bird Detter syndrome"^^xsd:string) AnnotationAssertion( "SCAX6"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia and ataxia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia with ataxia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anemia and ataxia"^^xsd:string) AnnotationAssertion( "X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia"^^xsd:string) AnnotationAssertion( "XLSA-A"^^xsd:string) AnnotationAssertion( "sex-linked hypochromic sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia and ataxia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia and spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "sideroblastic anemia with spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050554"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked sideroblastic anemia with ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital muscular dystrophy) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/"^^xsd:string) Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page"^^xsd:string) "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9138"^^xsd:string) AnnotationAssertion( "ICD9CM:359.0"^^xsd:string) AnnotationAssertion( "ORDO:97242"^^xsd:string) AnnotationAssertion( "CMD"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, alpha-dystroglycan related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050557"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy"^^xsd:string) "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO)"^^xsd:string) AnnotationAssertion( "COL6A1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:4769"^^xsd:string) AnnotationAssertion( "MESH:C537521"^^xsd:string) AnnotationAssertion( "MIM:PS254090"^^xsd:string) AnnotationAssertion( "MONDO:0000355"^^xsd:string) AnnotationAssertion( "NCI:C123438"^^xsd:string) AnnotationAssertion( "OMIA:001967"^^xsd:string) AnnotationAssertion( "ORDO:75840"^^xsd:string) AnnotationAssertion( "UCMD"^^xsd:string) AnnotationAssertion( "Ullrich disease"^^xsd:string) AnnotationAssertion( "Ullrich scleroatonic muscular dystrophy"^^xsd:string) AnnotationAssertion( "late onset scleroatonic familial myopathy"^^xsd:string) AnnotationAssertion( "muscular dystrophy, Ullrich type"^^xsd:string) AnnotationAssertion( "scleroatonic muscular dystrophy"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, autosomal recessive"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050558"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fukuyama congenital muscular dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6475"^^xsd:string) AnnotationAssertion( "MIM:253800"^^xsd:string) AnnotationAssertion( "ORDO:272"^^xsd:string) AnnotationAssertion( "FCMD"^^xsd:string) AnnotationAssertion( "Fukuyama CMD"^^xsd:string) AnnotationAssertion( "Fukuyama Syndrome"^^xsd:string) AnnotationAssertion( "Fukuyama muscular dystrophy"^^xsd:string) AnnotationAssertion( "Fukuyama type cerebromuscular dystrophy"^^xsd:string) AnnotationAssertion( "Fukuyama type congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "MDDGA4"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome, FKTN-related"^^xsd:string) AnnotationAssertion( "muscular dystrophy due to defective glycosylation of dystroglycan 4A"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050559"^^xsd:string) AnnotationAssertion(rdfs:label "Fukuyama congenital muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (Walker-Warburg syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome"^^xsd:string) "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2599"^^xsd:string) AnnotationAssertion( "MESH:D058494"^^xsd:string) AnnotationAssertion( "Chemke syndrome"^^xsd:string) AnnotationAssertion( "MEB (Muscle-Eye-Brain) Syndrome"^^xsd:string) AnnotationAssertion( "Muscle Eye Brain Disease"^^xsd:string) AnnotationAssertion( "Muscle-Eye-Brain Diseases"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation"^^xsd:string) AnnotationAssertion( "Pagon syndrome"^^xsd:string) AnnotationAssertion( "Pagon syndromes"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related"^^xsd:string) AnnotationAssertion( "Warburg syndrome"^^xsd:string) AnnotationAssertion( "alpha dystroglycanopathies"^^xsd:string) AnnotationAssertion( "WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050560"^^xsd:string) AnnotationAssertion(rdfs:label "Walker-Warburg syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lennox-Gastaut syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome"^^xsd:string) "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535500"^^xsd:string) AnnotationAssertion( "MIM:606369"^^xsd:string) AnnotationAssertion( "GARD:9912"^^xsd:string) AnnotationAssertion( "MESH:D065768"^^xsd:string) AnnotationAssertion( "NCI:C84816"^^xsd:string) AnnotationAssertion( "ORDO:2382"^^xsd:string) AnnotationAssertion( "Lennox syndrome"^^xsd:string) AnnotationAssertion( "Lennox-Gastaut syndromes"^^xsd:string) AnnotationAssertion( "childhood epileptic encephalopathy with diffuse slow spikes and waves"^^xsd:string) AnnotationAssertion( "epileptic encephalopathy, Lennox-Gastaut type"^^xsd:string) AnnotationAssertion( "macrocephaly and epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050561"^^xsd:string) AnnotationAssertion(rdfs:label "Lennox-Gastaut syndrome"^^xsd:string) SubClassOf( ) # Class: (West syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/west-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24268986"^^xsd:string) "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:001471"^^xsd:string) AnnotationAssertion( "GARD:7887"^^xsd:string) AnnotationAssertion( "MESH:D013036"^^xsd:string) AnnotationAssertion( "NCI:C84788"^^xsd:string) AnnotationAssertion( "ORDO:3451"^^xsd:string) AnnotationAssertion( "Cryptogenic Infantile Spasm"^^xsd:string) AnnotationAssertion( "Cryptogenic West Syndrome"^^xsd:string) AnnotationAssertion( "Hypsarrhythmia"^^xsd:string) AnnotationAssertion( "Infantile Spasm"^^xsd:string) AnnotationAssertion( "Infantile Spasms"^^xsd:string) AnnotationAssertion( "Jackknife Seizure"^^xsd:string) AnnotationAssertion( "Jackknife Seizures"^^xsd:string) AnnotationAssertion( "Lightning Attack"^^xsd:string) AnnotationAssertion( "Lightning Attacks"^^xsd:string) AnnotationAssertion( "Nodding Spasm"^^xsd:string) AnnotationAssertion( "Nodding Spasms"^^xsd:string) AnnotationAssertion( "Salaam Attacks"^^xsd:string) AnnotationAssertion( "Salaam Seizures"^^xsd:string) AnnotationAssertion( "Spasmus Nutans"^^xsd:string) AnnotationAssertion( "Symptomatic Infantile Spasm"^^xsd:string) AnnotationAssertion( "cryptogenic infantile spasms"^^xsd:string) AnnotationAssertion( "hypsarrhythmias"^^xsd:string) AnnotationAssertion( "symptomatic West syndrome"^^xsd:string) AnnotationAssertion( "symptomatic infantile spasms"^^xsd:string) AnnotationAssertion( "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Neonatal encephalopathy with seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Infantile spasms syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050562"^^xsd:string) AnnotationAssertion(rdfs:label "West syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic deafness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) Annotation( "http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742"^^xsd:string) "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009076"^^xsd:string) AnnotationAssertion( "MESH:C580334"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hearing Impairment"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hearing Loss"^^xsd:string) AnnotationAssertion( "isolated deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hearing loss and deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hereditary hearing loss"^^xsd:string) AnnotationAssertion( "undifferentiated deafness"^^xsd:string) AnnotationAssertion( "non-syndromic genetic deafness"^^xsd:string) AnnotationAssertion( "nonsyndromic hearing loss and deafness, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050563"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic deafness"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS124900"^^xsd:string) AnnotationAssertion( "ORDO:90635"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness"^^xsd:string) AnnotationAssertion( "DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050564"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607197"^^xsd:string) AnnotationAssertion( "MESH:C564609"^^xsd:string) AnnotationAssertion( "MIM:PS220290"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050565"^^xsd:string) AnnotationAssertion(rdfs:comment "OMIM:607197 is an older phenotype record for this disease."^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked nonsyndromic deafness) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness"^^xsd:string) "A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS304500"^^xsd:string) AnnotationAssertion( "ORDO:90625"^^xsd:string) AnnotationAssertion( "X-linked deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050566"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked nonsyndromic deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html"^^xsd:string) "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS119530"^^xsd:string) AnnotationAssertion( "MONDO:0000358"^^xsd:string) AnnotationAssertion( "CLEFT LIP/PALATE"^^xsd:string) AnnotationAssertion( "OFC"^^xsd:string) AnnotationAssertion( "cleft lip or cleft palate"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip/palate"^^xsd:string) AnnotationAssertion( "nonsyndromic orofacial cleft"^^xsd:string) AnnotationAssertion( "orofacial clefting"^^xsd:string) AnnotationAssertion( "orofacial clefts"^^xsd:string) AnnotationAssertion( "FACIAL CLEFT"^^xsd:string) AnnotationAssertion( "MEDIAN CLEFT LIP AND PALATE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050567"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylocostal dysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondylocostal_dysostosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis"^^xsd:string) "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12174"^^xsd:string) AnnotationAssertion( "GARD:6798"^^xsd:string) AnnotationAssertion( "MIM:PS277300"^^xsd:string) AnnotationAssertion( "NCI:C125598"^^xsd:string) AnnotationAssertion( "ORDO:1797"^^xsd:string) AnnotationAssertion( "ORDO:2311"^^xsd:string) AnnotationAssertion( "costovertebral segmentation anomalies"^^xsd:string) AnnotationAssertion( "spondylothoracic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050568"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Seckel syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Seckel_syndrome"^^xsd:string) "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8562"^^xsd:string) AnnotationAssertion( "MIM:PS210600"^^xsd:string) AnnotationAssertion( "NCI:C125488"^^xsd:string) AnnotationAssertion( "ORDO:808"^^xsd:string) AnnotationAssertion( "Harper's syndrome"^^xsd:string) AnnotationAssertion( "SCKL"^^xsd:string) AnnotationAssertion( "Virchow-Seckel dwarfism"^^xsd:string) AnnotationAssertion( "bird-headed dwarfism"^^xsd:string) AnnotationAssertion( "microcephalic primordial dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050569"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation"^^xsd:string) "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005545"^^xsd:string) AnnotationAssertion( "MIM:PS212065"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050570"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type I"^^xsd:string) SubClassOf( ) # Class: (congenital disorder of glycosylation type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification"^^xsd:string) "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005546"^^xsd:string) AnnotationAssertion( "MESH:C535747"^^xsd:string) AnnotationAssertion( "MIM:PS212066"^^xsd:string) AnnotationAssertion( "CDG II"^^xsd:string) AnnotationAssertion( "CDGII"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050571"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type II"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy) AnnotationAssertion(Annotation( "http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy"^^xsd:string) "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020029"^^xsd:string) AnnotationAssertion( "GARD:10790"^^xsd:string) AnnotationAssertion( "MESH:D000071700"^^xsd:string) AnnotationAssertion( "MIM:PS120970"^^xsd:string) AnnotationAssertion( "ORDO:1872"^^xsd:string) AnnotationAssertion( "CORD"^^xsd:string) AnnotationAssertion( "CRD"^^xsd:string) AnnotationAssertion( "cone rod degenerations"^^xsd:string) AnnotationAssertion( "cone rod retinal dystrophy"^^xsd:string) AnnotationAssertion( "cone-rod degeneration"^^xsd:string) AnnotationAssertion( "cone-rod dystrophies"^^xsd:string) AnnotationAssertion( "cone-rod retinal dystrophies"^^xsd:string) AnnotationAssertion( "autosomal recessive cone rod dystrophy"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy, dominant"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050572"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001371"^^xsd:string) AnnotationAssertion( "GARD:10761"^^xsd:string) AnnotationAssertion( "MESH:C535306"^^xsd:string) AnnotationAssertion( "NCI:C128187"^^xsd:string) AnnotationAssertion( "2-Hga"^^xsd:string) AnnotationAssertion( "2-hydroxyglutaricaciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050573"^^xsd:string) AnnotationAssertion(rdfs:label "2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (L-2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10472"^^xsd:string) AnnotationAssertion( "MIM:236792"^^xsd:string) AnnotationAssertion( "MONDO:0009370"^^xsd:string) AnnotationAssertion( "ORDO:79314"^^xsd:string) AnnotationAssertion( "L-2-hydroxyglutaric acidemia"^^xsd:string) AnnotationAssertion( "L-2-hydroxyglutaricacidemia"^^xsd:string) AnnotationAssertion( "L2HGA"^^xsd:string) AnnotationAssertion( "L2HGDH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050574"^^xsd:string) AnnotationAssertion(rdfs:label "L-2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (D-2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5661"^^xsd:string) AnnotationAssertion( "MIM:PS600721"^^xsd:string) AnnotationAssertion( "D-2-alpha hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion( "D2HGA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050575"^^xsd:string) AnnotationAssertion(rdfs:label "D-2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome"^^xsd:string) "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)"^^xsd:string) AnnotationAssertion( "GARD:322"^^xsd:string) AnnotationAssertion( "MESH:C537580"^^xsd:string) AnnotationAssertion( "MIM:PS266900"^^xsd:string) AnnotationAssertion( "NCI:C168588"^^xsd:string) AnnotationAssertion( "ORDO:3156"^^xsd:string) AnnotationAssertion( "Renal Dysplasia And Retinal Aplasia"^^xsd:string) AnnotationAssertion( "Renal dysplasia retinal aplasia"^^xsd:string) AnnotationAssertion( "Renal-retinal syndrome"^^xsd:string) AnnotationAssertion( "Senior-Løken syndrome"^^xsd:string) AnnotationAssertion( "juvenile nephronophthisis with Leber amaurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050576"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cranioectodermal dysplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sensenbrenner_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20817137/"^^xsd:string) "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562966"^^xsd:string) AnnotationAssertion( "MIM:PS218330"^^xsd:string) AnnotationAssertion( "NCI:C129305"^^xsd:string) AnnotationAssertion( "Levin syndrome"^^xsd:string) AnnotationAssertion( "Sensenbrenner syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050577"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (occult macular dystrophy) AnnotationAssertion(Annotation( "http://www.iovs.org/content/41/2/513.full.pdf"^^xsd:string) "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO)"^^xsd:string) AnnotationAssertion( "RP1L1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613587"^^xsd:string) AnnotationAssertion( "RDO:0009914"^^xsd:string) AnnotationAssertion( "OCMD"^^xsd:string) AnnotationAssertion( "OMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050578"^^xsd:string) AnnotationAssertion(rdfs:label "occult macular dystrophy"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease XV) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613507"^^xsd:string) "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613507"^^xsd:string) AnnotationAssertion( "MONDO:0013291"^^xsd:string) AnnotationAssertion( "ORDO:263297"^^xsd:string) AnnotationAssertion( "GSD XV"^^xsd:string) AnnotationAssertion( "GSD15"^^xsd:string) AnnotationAssertion( "GYG1 deficiency"^^xsd:string) AnnotationAssertion( "glycogen storage disease 15"^^xsd:string) AnnotationAssertion( "glycogen storage disease type XV"^^xsd:string) AnnotationAssertion( "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"^^xsd:string) AnnotationAssertion( "glycogenin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050579"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease XV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Milroy%27s_disease"^^xsd:string) "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C565432"^^xsd:string) AnnotationAssertion( "GARD:7220"^^xsd:string) AnnotationAssertion( "ICD9CM:757.0"^^xsd:string) AnnotationAssertion( "MIM:PS153100"^^xsd:string) AnnotationAssertion( "PCL"^^xsd:string) AnnotationAssertion( "congenital familial lymphedema"^^xsd:string) AnnotationAssertion( "congenital hereditary lymphedema"^^xsd:string) AnnotationAssertion( "congenital hereditary lymphedemas"^^xsd:string) AnnotationAssertion( "hereditary lymphedemas"^^xsd:string) AnnotationAssertion( "primary congenital lymphedema"^^xsd:string) AnnotationAssertion( "primary congenital lymphedemas"^^xsd:string) AnnotationAssertion( "congenital recessive lymphedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050580"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brachydactyly"^^xsd:string) "A dysostosis characterized by short fingers and toes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11913"^^xsd:string) AnnotationAssertion( "MESH:D059327"^^xsd:string) AnnotationAssertion( "ORDO:294937"^^xsd:string) AnnotationAssertion( "Brachydactylia"^^xsd:string) AnnotationAssertion( "Brachydactylies"^^xsd:string) AnnotationAssertion( "Brachydactylism"^^xsd:string) AnnotationAssertion( "brachydactylias"^^xsd:string) AnnotationAssertion( "brachydactylisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050581"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gummatous syphilis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31437386"^^xsd:string) "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050584"^^xsd:string) AnnotationAssertion(rdfs:label "gummatous syphilis"^^xsd:string) SubClassOf( ) # Class: (congenital generalized lipodystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy"^^xsd:string) "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000681"^^xsd:string) AnnotationAssertion( "GARD:13388"^^xsd:string) AnnotationAssertion( "MESH:D052497"^^xsd:string) AnnotationAssertion( "MIM:PS608594"^^xsd:string) AnnotationAssertion( "Berardinelli Seip congenital lipodystrophy"^^xsd:string) AnnotationAssertion( "Berardinelli Seip syndrome"^^xsd:string) AnnotationAssertion( "Berardinelli syndrome"^^xsd:string) AnnotationAssertion( "Brunzell Syndrome (with Bone Cysts)"^^xsd:string) AnnotationAssertion( "Brunzell syndrome"^^xsd:string) AnnotationAssertion( "Seip syndrome"^^xsd:string) AnnotationAssertion( "congenital generalized lipodystrophies"^^xsd:string) AnnotationAssertion( "congenital lipoatrophic diabetes"^^xsd:string) AnnotationAssertion( "generalized lipodystrophies"^^xsd:string) AnnotationAssertion( "generalized lipodystrophy"^^xsd:string) AnnotationAssertion( "total lipodystrophies"^^xsd:string) AnnotationAssertion( "total lipodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050585"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichotillomania) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Trichotillomania"^^xsd:string) "An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613229"^^xsd:string) AnnotationAssertion( "GARD:7803"^^xsd:string) AnnotationAssertion( "MESH:D014256"^^xsd:string) AnnotationAssertion( "TTM"^^xsd:string) AnnotationAssertion( "trichotillomanias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050587"^^xsd:string) AnnotationAssertion(rdfs:label "trichotillomania"^^xsd:string) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613155"^^xsd:string) "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9001544"^^xsd:string) AnnotationAssertion( "MIM:613155"^^xsd:string) AnnotationAssertion( "CMD due to dystroglycanopathy"^^xsd:string) AnnotationAssertion( "MDDGB1"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1"^^xsd:string) AnnotationAssertion( "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, POMT1-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050588"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inflammatory_bowel_disease"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908"^^xsd:string) "An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003767"^^xsd:string) AnnotationAssertion( "MESH:D015212"^^xsd:string) AnnotationAssertion( "MIM:PS266600"^^xsd:string) AnnotationAssertion( "MIM:PS614328"^^xsd:string) AnnotationAssertion( "MONDO:0005265"^^xsd:string) AnnotationAssertion( "NCI:C3138"^^xsd:string) AnnotationAssertion( "inflammatory bowel diseases"^^xsd:string) AnnotationAssertion( "EARLY-ONSET INFLAMMATORY BOWEL DISEASE"^^xsd:string) AnnotationAssertion( "VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE"^^xsd:string) AnnotationAssertion( "regional enteritis"^^xsd:string) AnnotationAssertion( "ulcerative colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Inflammatory bowel disease 1, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050589"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17133096"^^xsd:string) "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13592"^^xsd:string) AnnotationAssertion( "MIM:PS202700"^^xsd:string) AnnotationAssertion( "ORDO:42738"^^xsd:string) AnnotationAssertion( "ORDO:486"^^xsd:string) AnnotationAssertion( "ORDO:86788"^^xsd:string) AnnotationAssertion( "congenital neutropenia"^^xsd:string) AnnotationAssertion( "infantile genetic agranulocytosis"^^xsd:string) AnnotationAssertion( "primary neutropenia"^^xsd:string) AnnotationAssertion( "severe infantile genetic agranulocytosis"^^xsd:string) AnnotationAssertion( "severe infantile genetic neutropenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050590"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tooth agenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypodontia"^^xsd:string) "A tooth disease characterized by failure to develop one or more missing teeth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:147330"^^xsd:string) AnnotationAssertion( "EFO:0005410"^^xsd:string) AnnotationAssertion( "MIM:PS106600"^^xsd:string) AnnotationAssertion( "NCI:C172328"^^xsd:string) AnnotationAssertion( "ORDO:2227"^^xsd:string) AnnotationAssertion( "ORDO:99798"^^xsd:string) AnnotationAssertion( "familial tooth agenesis"^^xsd:string) AnnotationAssertion( "hypodontia"^^xsd:string) AnnotationAssertion( "oligodontia"^^xsd:string) AnnotationAssertion( "reduced number of teeth"^^xsd:string) AnnotationAssertion( "selective tooth agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050591"^^xsd:string) AnnotationAssertion(rdfs:label "tooth agenesis"^^xsd:string) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy"^^xsd:string) "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012779"^^xsd:string) AnnotationAssertion( "MIM:PS208500"^^xsd:string) AnnotationAssertion( "NCI:C84794"^^xsd:string) AnnotationAssertion( "ORDO:474"^^xsd:string) AnnotationAssertion( "Jeune syndrome"^^xsd:string) AnnotationAssertion( "Jeune thoracic dysplasia"^^xsd:string) AnnotationAssertion( "Jeune thoracic dystrophy"^^xsd:string) AnnotationAssertion( "Jeune's syndrome"^^xsd:string) AnnotationAssertion( "asphyxiating thoracic dystrophy (ATD)"^^xsd:string) AnnotationAssertion( "short rib polydactyly syndrome, Majewski type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndromes"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia with or without polydactyly"^^xsd:string) AnnotationAssertion( "thoracic pelvic phalangeal dystrophy"^^xsd:string) AnnotationAssertion( "short ribs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050592"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary congenital glaucoma) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/early-onset-glaucoma"^^xsd:string) "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C150251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050593"^^xsd:string) AnnotationAssertion(rdfs:label "primary congenital glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease IX) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25266922/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17689125"^^xsd:string) "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C580130"^^xsd:string) AnnotationAssertion( "RDO:0015892"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 9"^^xsd:string) AnnotationAssertion( "Gsd Ix"^^xsd:string) AnnotationAssertion( "Gsdix"^^xsd:string) AnnotationAssertion( "Phk Deficiency"^^xsd:string) AnnotationAssertion( "Phosphorylase B Kinase Deficiency"^^xsd:string) AnnotationAssertion( "Phosphorylase Kinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050594"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IX"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (taeniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Taeniasis"^^xsd:string) "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001433"^^xsd:string) AnnotationAssertion( "ICD10CM:B68.1"^^xsd:string) AnnotationAssertion( "ICD9CM:123.2"^^xsd:string) AnnotationAssertion( "MESH:D013622"^^xsd:string) AnnotationAssertion( "beef tapeworm infection"^^xsd:string) AnnotationAssertion( "infection by Taeniarhynchus saginatus"^^xsd:string) AnnotationAssertion( "taenia infection"^^xsd:string) AnnotationAssertion( "taenia infections"^^xsd:string) AnnotationAssertion( "taenia saginata infectious disease"^^xsd:string) AnnotationAssertion( "taeniases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050596"^^xsd:string) AnnotationAssertion(rdfs:label "taeniasis"^^xsd:string) SubClassOf( ) # Class: (intestinal schistosomiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schistosomiasis"^^xsd:string) "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B65.1"^^xsd:string) AnnotationAssertion( "ICD10CM:B65.2"^^xsd:string) AnnotationAssertion( "ICD9CM:120.1"^^xsd:string) AnnotationAssertion( "ICD9CM:120.2"^^xsd:string) AnnotationAssertion( "NCI:C35364"^^xsd:string) AnnotationAssertion( "ORDO:1247"^^xsd:string) AnnotationAssertion( "intestinal schistosomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050597"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal schistosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrapulmonary tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "A tuberculosis that occurs at body sites other than the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000092225"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050598"^^xsd:string) AnnotationAssertion(rdfs:label "extrapulmonary tuberculosis"^^xsd:string) SubClassOf( ) # Class: (abdominal tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050599"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal tuberculosis"^^xsd:string) SubClassOf( ) # Class: (ABCD syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/ABCD_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/600501"^^xsd:string) "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535334"^^xsd:string) AnnotationAssertion( "MIM:600501"^^xsd:string) AnnotationAssertion( "MONDO:0010895"^^xsd:string) AnnotationAssertion( "ORDO:918"^^xsd:string) AnnotationAssertion( "ABCDS"^^xsd:string) AnnotationAssertion( "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050600"^^xsd:string) AnnotationAssertion(rdfs:label "ABCD syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ADULT syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16114047/"^^xsd:string) "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "GARD:384"^^xsd:string) AnnotationAssertion( "MESH:C538052"^^xsd:string) AnnotationAssertion( "MIM:103285"^^xsd:string) AnnotationAssertion( "MONDO:0007072"^^xsd:string) AnnotationAssertion( "acro-dermato-ungual-lacrimal-tooth syndrome"^^xsd:string) AnnotationAssertion( "pigment anomaly ectrodactyly hypodontia"^^xsd:string) AnnotationAssertion( "propping Zerres syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050601"^^xsd:string) AnnotationAssertion(rdfs:label "ADULT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (triple-A syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/triple-a-syndrome"^^xsd:string) "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231550"^^xsd:string) AnnotationAssertion( "EFO:1001997"^^xsd:string) AnnotationAssertion( "GARD:457"^^xsd:string) AnnotationAssertion( "MESH:C536008"^^xsd:string) AnnotationAssertion( "MONDO:0009279"^^xsd:string) AnnotationAssertion( "NCI:C35710"^^xsd:string) AnnotationAssertion( "AAA syndrome"^^xsd:string) AnnotationAssertion( "AAAS"^^xsd:string) AnnotationAssertion( "ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME"^^xsd:string) AnnotationAssertion( "Achalasia Addisonianism Alacrimia Syndrome"^^xsd:string) AnnotationAssertion( "Achalasia alacrimia syndrome"^^xsd:string) AnnotationAssertion( "Achalasia-Addisonian Syndrome"^^xsd:string) AnnotationAssertion( "Achalasia-Alacrima Syndrome"^^xsd:string) AnnotationAssertion( "Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima"^^xsd:string) AnnotationAssertion( "Alacrima-Achalasia-Addisonianism"^^xsd:string) AnnotationAssertion( "Alacrima-achalasia-adrenal insufficiency neurologic disorder"^^xsd:string) AnnotationAssertion( "Allgrove syndrome"^^xsd:string) AnnotationAssertion( "GLUCOCORTICOID DEFICIENCY WITH ACHALASIA"^^xsd:string) AnnotationAssertion( "achalasia-addisonianism-alacrima syndrome"^^xsd:string) AnnotationAssertion( "glucocorticoid deficiency and achalasia"^^xsd:string) AnnotationAssertion( "hypoadrenalism with achalasia"^^xsd:string) AnnotationAssertion( "infantile achalasia with alacrima"^^xsd:string) AnnotationAssertion( "ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050602"^^xsd:string) AnnotationAssertion(rdfs:label "triple-A syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acheiropody) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acheiropodia"^^xsd:string) "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200500"^^xsd:string) AnnotationAssertion( "GARD:376"^^xsd:string) AnnotationAssertion( "MESH:C536014"^^xsd:string) AnnotationAssertion( "ACHP"^^xsd:string) AnnotationAssertion( "Brazilian type acheiropody"^^xsd:string) AnnotationAssertion( "Horn-Kolb syndrome"^^xsd:string) AnnotationAssertion( "acheiropodia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050603"^^xsd:string) AnnotationAssertion(rdfs:label "acheiropody"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrocapitofemoral dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia"^^xsd:string) "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607778"^^xsd:string) AnnotationAssertion( "IHH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10605"^^xsd:string) AnnotationAssertion( "MESH:C564334"^^xsd:string) AnnotationAssertion( "ACFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050604"^^xsd:string) AnnotationAssertion(rdfs:label "acrocapitofemoral dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrodermatitis enteropathica) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica"^^xsd:string) "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201100"^^xsd:string) AnnotationAssertion( "GARD:5723"^^xsd:string) AnnotationAssertion( "MESH:C538178"^^xsd:string) AnnotationAssertion( "NCI:C128802"^^xsd:string) AnnotationAssertion( "AEZ"^^xsd:string) AnnotationAssertion( "Acrodermatitis enteropathica zinc deficiency type"^^xsd:string) AnnotationAssertion( "SLC39A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hereditary acrodermatitis enteropathica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050605"^^xsd:string) AnnotationAssertion(rdfs:label "acrodermatitis enteropathica"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrokeratosis verruciformis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis"^^xsd:string) "A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000666"^^xsd:string) AnnotationAssertion( "MIM:101900"^^xsd:string) AnnotationAssertion( "MONDO:0007048"^^xsd:string) AnnotationAssertion( "AKV"^^xsd:string) AnnotationAssertion( "Hopf acrokeratosis verruciformis"^^xsd:string) AnnotationAssertion( "Hopf disease"^^xsd:string) AnnotationAssertion( "acrokeratosis verruciformis of Hopf"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050606"^^xsd:string) AnnotationAssertion(rdfs:label "acrokeratosis verruciformis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Askin's tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Askin%27s_tumor"^^xsd:string) "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000095"^^xsd:string) AnnotationAssertion( "MESH:C563168"^^xsd:string) AnnotationAssertion( "Askin tumor"^^xsd:string) AnnotationAssertion( "Askin tumour"^^xsd:string) AnnotationAssertion( "Askin's tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050608"^^xsd:string) AnnotationAssertion(rdfs:label "Askin's tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral cavity carcinoma in situ) AnnotationAssertion(Annotation( "https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/"^^xsd:string) "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050610"^^xsd:string) AnnotationAssertion(rdfs:label "oral cavity carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pharynx carcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer"^^xsd:string) "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050611"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder carcinoma in situ) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gallbladder_cancer"^^xsd:string) Annotation( "https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html"^^xsd:string) "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "gall bladder carcinoma in situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050612"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct carcinoma in situ) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cholangiocarcinoma"^^xsd:string) "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050613"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchus carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10858385"^^xsd:string) "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003570"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050614"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (respiratory system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm"^^xsd:string) "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002222"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050615"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (paranasal sinus cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1"^^xsd:string) "A respiratory system cancer that is located_in the paranasal sinuses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000454"^^xsd:string) AnnotationAssertion( "NCI:C6014"^^xsd:string) AnnotationAssertion( "NCI:C6017"^^xsd:string) AnnotationAssertion( "NCI:C6018"^^xsd:string) AnnotationAssertion( "NCI:C6019"^^xsd:string) AnnotationAssertion( "NCI:C8193"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6019"^^xsd:string) "adenoid cystic carcinoma of Accessory sinus"^^xsd:string) AnnotationAssertion( "cancer of paranasal sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8193"^^xsd:string) "epidermoid carcinoma of the paranasal sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6018"^^xsd:string) "mucoepidermoid carcinoma of accessory sinus"^^xsd:string) AnnotationAssertion( "paranasal sinus adenocarcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus adenoid cystic carcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus cancers"^^xsd:string) AnnotationAssertion( "paranasal sinus mucoepidermoid carcinoma"^^xsd:string) AnnotationAssertion( "paranasal sinus squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of paranasal sinus"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of paranasal sinus"^^xsd:string) AnnotationAssertion( "DOID:0050619"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infiltrating renal pelvis transitional cell carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string) "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050620"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating renal pelvis transitional cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (respiratory system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Respiratory_system"^^xsd:string) "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050621"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reproductive_system"^^xsd:string) "An organ system benign neoplasm that is located_in reproductive system organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050622"^^xsd:string) AnnotationAssertion(rdfs:label "reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/"^^xsd:string) "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050623"^^xsd:string) AnnotationAssertion(rdfs:label "bladder benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string) "An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050624"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biliary tract benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract"^^xsd:string) "A hepatobiliary benign neoplasm located_in the biliary tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003891"^^xsd:string) AnnotationAssertion( "MESH:D001661"^^xsd:string) AnnotationAssertion( "NCI:C4441"^^xsd:string) AnnotationAssertion( "biliary tract neoplasms"^^xsd:string) AnnotationAssertion( "extrahepatic bile duct neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of extrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "tumor of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050625"^^xsd:string) AnnotationAssertion(rdfs:label "biliary tract benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal neuroendocrine tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44904"^^xsd:string) "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "gastrointestinal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "malignant gastrointestinal neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "malignant gastrointestinal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050626"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal neuroendocrine tumor"^^xsd:string) SubClassOf( ) # Class: (advanced sleep phase syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome"^^xsd:string) "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020178"^^xsd:string) AnnotationAssertion( "MIM:PS604348"^^xsd:string) AnnotationAssertion( "ORDO:164736"^^xsd:string) AnnotationAssertion( "Shift Work Sleep Disorder"^^xsd:string) AnnotationAssertion( "Shift-Work Sleep Disorders"^^xsd:string) AnnotationAssertion( "circadian rhythm sleep disorders"^^xsd:string) AnnotationAssertion( "disturbed nyctohemeral rhythm"^^xsd:string) AnnotationAssertion( "disturbed nyctohemeral rhythms"^^xsd:string) AnnotationAssertion( "familial advanced sleep-phase syndrome"^^xsd:string) AnnotationAssertion( "non 24 hour sleep wake disorder"^^xsd:string) AnnotationAssertion( "nonorganic sleep wake cycle disorders"^^xsd:string) AnnotationAssertion( "sleep wake cycle disorders"^^xsd:string) AnnotationAssertion( "sleep wake schedule disorders"^^xsd:string) AnnotationAssertion( "sleep-wake cycle disorder"^^xsd:string) AnnotationAssertion( "sleep-wake schedule disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050628"^^xsd:string) AnnotationAssertion(rdfs:label "advanced sleep phase syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/225750"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1475/"^^xsd:string) Annotation( "https://agsaa.org/about-ags"^^xsd:string) "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)"^^xsd:string) AnnotationAssertion( "GARD:575"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.8"^^xsd:string) AnnotationAssertion( "MESH:C535607"^^xsd:string) AnnotationAssertion( "MIM:PS225750"^^xsd:string) AnnotationAssertion( "ORDO:51"^^xsd:string) AnnotationAssertion( "AGS"^^xsd:string) AnnotationAssertion( "Cree encephalitis"^^xsd:string) AnnotationAssertion( "encephalopathy with basal ganglia calcification"^^xsd:string) AnnotationAssertion( "familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis"^^xsd:string) AnnotationAssertion( "pseudotoxoplasmosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050629"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aland Island eye disease) AnnotationAssertion(Annotation( "https://www.omim.org/entry/300600"^^xsd:string) "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300600"^^xsd:string) AnnotationAssertion( "GARD:10574"^^xsd:string) AnnotationAssertion( "MESH:C562664"^^xsd:string) AnnotationAssertion( "AIED"^^xsd:string) AnnotationAssertion( "Forsius-Eriksson syndrome"^^xsd:string) AnnotationAssertion( "Forsius-Eriksson type ocular albinism"^^xsd:string) AnnotationAssertion( "ocular albinism, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050630"^^xsd:string) AnnotationAssertion(rdfs:label "Aland Island eye disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Allan-Herndon-Dudley syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome"^^xsd:string) Annotation( "http://omim.org/entry/300523"^^xsd:string) "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5617"^^xsd:string) AnnotationAssertion( "MESH:C537047"^^xsd:string) AnnotationAssertion( "MIM:300523"^^xsd:string) AnnotationAssertion( "MONDO:0010354"^^xsd:string) AnnotationAssertion( "NCI:C118843"^^xsd:string) AnnotationAssertion( "ORDO:59"^^xsd:string) AnnotationAssertion( "AHDS"^^xsd:string) AnnotationAssertion( "Allan-Herndon syndrome"^^xsd:string) AnnotationAssertion( "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency"^^xsd:string) AnnotationAssertion( "Monocarboxylate Transporter 8 (Mct8) Deficiency"^^xsd:string) AnnotationAssertion( "Monocarboxylate transporter-8 deficiency"^^xsd:string) AnnotationAssertion( "T3 resistance"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with hypotonia"^^xsd:string) AnnotationAssertion( "mental retardation and muscular atrophy"^^xsd:string) AnnotationAssertion( "triiodothyronine resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050631"^^xsd:string) AnnotationAssertion(rdfs:label "Allan-Herndon-Dudley syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculocutaneous albinism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oculocutaneous_albinism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism"^^xsd:string) "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10958"^^xsd:string) AnnotationAssertion( "MESH:D016115"^^xsd:string) AnnotationAssertion( "MIM:PS203100"^^xsd:string) AnnotationAssertion( "ORDO:55"^^xsd:string) AnnotationAssertion( "tyrosinase-negative albinism"^^xsd:string) AnnotationAssertion( "tyrosinase-positive albinism"^^xsd:string) AnnotationAssertion( "yellow mutant albinism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050632"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ocular albinism 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ocular-albinism"^^xsd:string) "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005467"^^xsd:string) AnnotationAssertion( "MESH:C537863"^^xsd:string) AnnotationAssertion( "MIM:300500"^^xsd:string) AnnotationAssertion( "GPR143-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:D016117"^^xsd:string) AnnotationAssertion( "NCI:C118785"^^xsd:string) AnnotationAssertion( "Nettleship-Falls type ocular albinism"^^xsd:string) AnnotationAssertion( "OA1"^^xsd:string) AnnotationAssertion( "Ocular Albinism Type 1"^^xsd:string) AnnotationAssertion( "ocular albinism"^^xsd:string) AnnotationAssertion( "ocular albinism type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050633"^^xsd:string) AnnotationAssertion(rdfs:label "ocular albinism 1"^^xsd:string) SubClassOf( ) # Class: (alopecia universalis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis"^^xsd:string) "An alopecia characterized by the complete loss of hair on the scalp and body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203655"^^xsd:string) AnnotationAssertion( "GARD:614"^^xsd:string) AnnotationAssertion( "MESH:C537055"^^xsd:string) AnnotationAssertion( "ALUNC"^^xsd:string) AnnotationAssertion( "alopecia universalis congenita"^^xsd:string) AnnotationAssertion( "generalized atrichia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050634"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia universalis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alternating hemiplegia of childhood) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood"^^xsd:string) "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11"^^xsd:string) AnnotationAssertion( "ICD10CM:G98"^^xsd:string) AnnotationAssertion( "MESH:C536589"^^xsd:string) AnnotationAssertion( "MIM:PS104290"^^xsd:string) AnnotationAssertion( "ORDO:2131"^^xsd:string) AnnotationAssertion( "AHC"^^xsd:string) AnnotationAssertion( "alternating hemiplegia"^^xsd:string) AnnotationAssertion( "alternating hemiplegia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050635"^^xsd:string) AnnotationAssertion(rdfs:label "alternating hemiplegia of childhood"^^xsd:string) SubClassOf( ) # Class: (familial visceral amyloidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Familial_renal_amyloidosis"^^xsd:string) "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8282"^^xsd:string) AnnotationAssertion( "MESH:C538249"^^xsd:string) AnnotationAssertion( "MIM:105200"^^xsd:string) AnnotationAssertion( "MONDO:0007099"^^xsd:string) AnnotationAssertion( "ORDO:85450"^^xsd:string) AnnotationAssertion( "German type amyloidosis"^^xsd:string) AnnotationAssertion( "Ostertag type amyloidosis"^^xsd:string) AnnotationAssertion( "amyloidosis 8"^^xsd:string) AnnotationAssertion( "amyloidosis VIII"^^xsd:string) AnnotationAssertion( "systemic nonneuropathic amyloidosis"^^xsd:string) AnnotationAssertion( "AFIB AMYLOIDOSIS"^^xsd:string) AnnotationAssertion( "AMYLD2"^^xsd:string) AnnotationAssertion( "cardiac and cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "familial renal amyloidosis"^^xsd:string) AnnotationAssertion( "hereditary systemic amyloidosis-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050636"^^xsd:string) AnnotationAssertion(rdfs:label "familial visceral amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Finnish type amyloidosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type"^^xsd:string) "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105120"^^xsd:string) AnnotationAssertion( "GARD:2339"^^xsd:string) AnnotationAssertion( "MESH:C537459"^^xsd:string) AnnotationAssertion( "ORDO:85448"^^xsd:string) AnnotationAssertion( "AGel amyloidosis"^^xsd:string) AnnotationAssertion( "Familial Amyloid Polyneuropathy Type Iv"^^xsd:string) AnnotationAssertion( "Familial Amyloidosis, Finnish Type"^^xsd:string) AnnotationAssertion( "Finnish type familial amyloid neuropathy"^^xsd:string) AnnotationAssertion( "GSN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Kymenlaakso syndrome"^^xsd:string) AnnotationAssertion( "Meretoja syndrome"^^xsd:string) AnnotationAssertion( "Meretoja type amyloidosis"^^xsd:string) AnnotationAssertion( "Meretoja's syndrome"^^xsd:string) AnnotationAssertion( "amyloid cranial neuropathy with lattice corneal dystrophy"^^xsd:string) AnnotationAssertion( "amyloidosis 5"^^xsd:string) AnnotationAssertion( "amyloidosis V"^^xsd:string) AnnotationAssertion( "amyloidosis due to mutant gelsolin"^^xsd:string) AnnotationAssertion( "cerebral amyloid angiopathy, GSN-related"^^xsd:string) AnnotationAssertion( "gelsolin amyloidosis"^^xsd:string) AnnotationAssertion( "gelsolin-related Amyloidosis"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy associated with familial systemic amyloidosis"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy, Gelsolin type"^^xsd:string) AnnotationAssertion( "lattice dystrophy of the cornea with hereditary generalized amyloidosis"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, LATTICE TYPE II"^^xsd:string) AnnotationAssertion( "LCD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050637"^^xsd:string) AnnotationAssertion(rdfs:label "Finnish type amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transthyretin amyloidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string) Annotation( "http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451"^^xsd:string) Annotation( "http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1194/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19372706"^^xsd:string) "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050761"^^xsd:string) AnnotationAssertion( "MIM:105210"^^xsd:string) AnnotationAssertion( "EFO:0004129"^^xsd:string) AnnotationAssertion( "GARD:656"^^xsd:string) AnnotationAssertion( "ICD10CM:E85.82"^^xsd:string) AnnotationAssertion( "MESH:C567782"^^xsd:string) AnnotationAssertion( "ORDO:85447"^^xsd:string) AnnotationAssertion( "ATTR amyloidosis"^^xsd:string) AnnotationAssertion( "ATTRm amyloidosis"^^xsd:string) AnnotationAssertion( "Corino de Andrade's disease"^^xsd:string) AnnotationAssertion( "TTR amyloidosis"^^xsd:string) AnnotationAssertion( "amyloidogenic transthyretin amyloidosis"^^xsd:string) AnnotationAssertion( "familial transthyretin amyloidosis"^^xsd:string) AnnotationAssertion( "familial transthyretin cardiac amyloidosis"^^xsd:string) AnnotationAssertion( "hereditary amyloidosis, transthyretin-related"^^xsd:string) AnnotationAssertion( "paramyloidosis"^^xsd:string) AnnotationAssertion( "AMYLOID POLYNEUROPATHY, FAMILIAL"^^xsd:string) AnnotationAssertion( "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED"^^xsd:string) AnnotationAssertion( "amyloid cardiomyopathy, transthyretin-related"^^xsd:string) AnnotationAssertion( "leptomeningeal FAP amyloidosis, transthyretin-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hereditary amyloidosis, transthyretin-related, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0050638"^^xsd:string) AnnotationAssertion(rdfs:label "transthyretin amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary cutaneous amyloidosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19663869"^^xsd:string) "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562643"^^xsd:string) AnnotationAssertion( "GARD:132"^^xsd:string) AnnotationAssertion( "MESH:C562642"^^xsd:string) AnnotationAssertion( "MIM:PS105250"^^xsd:string) AnnotationAssertion( "ORDO:137807"^^xsd:string) AnnotationAssertion( "ORDO:353220"^^xsd:string) AnnotationAssertion( "Amyloidosis IX"^^xsd:string) AnnotationAssertion( "PCA"^^xsd:string) AnnotationAssertion( "familial cutaneous lichen amyloidosis"^^xsd:string) AnnotationAssertion( "familial lichen amyloidosis"^^xsd:string) AnnotationAssertion( "familial primary localized cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "primary localized cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050639"^^xsd:string) AnnotationAssertion(rdfs:label "primary cutaneous amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anauxetic dysplasia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16252239/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK84550/"^^xsd:string) "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607095"^^xsd:string) AnnotationAssertion( "GARD:9657"^^xsd:string) AnnotationAssertion( "MESH:C538256"^^xsd:string) AnnotationAssertion( "ANXD"^^xsd:string) AnnotationAssertion( "ANXD1"^^xsd:string) AnnotationAssertion( "Spondylometaepiphyseal dysplasia, Anauxetic type"^^xsd:string) AnnotationAssertion( "Spondylometaepiphyseal dysplasia, Menger type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050640"^^xsd:string) AnnotationAssertion(rdfs:label "anauxetic dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rh deficiency syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3103426"^^xsd:string) "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564833"^^xsd:string) AnnotationAssertion( "MIM:268150"^^xsd:string) AnnotationAssertion( "RHAG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:12916"^^xsd:string) AnnotationAssertion( "MESH:C562717"^^xsd:string) AnnotationAssertion( "RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE"^^xsd:string) AnnotationAssertion( "RH-mod syndrome"^^xsd:string) AnnotationAssertion( "RHN"^^xsd:string) AnnotationAssertion( "Rh-null disease"^^xsd:string) AnnotationAssertion( "Rh-null syndrome"^^xsd:string) AnnotationAssertion( "Rh-null, regulator type"^^xsd:string) AnnotationAssertion( "RHD NEGATIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050641"^^xsd:string) AnnotationAssertion(rdfs:label "Rh deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypochromic microcytic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypochromic_anemia"^^xsd:string) "A microcytic anemia characterized by paler than normal blood cells. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536357"^^xsd:string) AnnotationAssertion( "RDO:0001912"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050642"^^xsd:string) AnnotationAssertion(rdfs:label "hypochromic microcytic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (arterial calcification of infancy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification"^^xsd:string) Annotation( "http://www.omim.org/entry/208000"^^xsd:string) "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8380"^^xsd:string) AnnotationAssertion( "MESH:C537440"^^xsd:string) AnnotationAssertion( "MIM:PS208000"^^xsd:string) AnnotationAssertion( "ORDO:51608"^^xsd:string) AnnotationAssertion( "GACI"^^xsd:string) AnnotationAssertion( "IIAC"^^xsd:string) AnnotationAssertion( "generalized arterial calcification in infancy"^^xsd:string) AnnotationAssertion( "generalized arterial calcification, of infancy"^^xsd:string) AnnotationAssertion( "idiopathic infantile arterial calcification"^^xsd:string) AnnotationAssertion( "infantile arteriosclerosis"^^xsd:string) AnnotationAssertion( "occlusive infantile arteriopathy"^^xsd:string) AnnotationAssertion( "ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050644"^^xsd:string) AnnotationAssertion(rdfs:label "arterial calcification of infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arterial tortuosity syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome"^^xsd:string) "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208050"^^xsd:string) AnnotationAssertion( "GARD:774"^^xsd:string) AnnotationAssertion( "MESH:C565942"^^xsd:string) AnnotationAssertion( "ATS"^^xsd:string) AnnotationAssertion( "arterial tortuosity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050645"^^xsd:string) AnnotationAssertion(rdfs:label "arterial tortuosity syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arthrogryposis"^^xsd:string) "A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:786"^^xsd:string) AnnotationAssertion( "MIM:PS108120"^^xsd:string) AnnotationAssertion( "ORDO:1147"^^xsd:string) AnnotationAssertion( "ORDO:97120"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita"^^xsd:string) AnnotationAssertion( "DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050646"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arts syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/arts-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK2591/"^^xsd:string) Annotation( "http://www.omim.org/entry/301835"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301738"^^xsd:string) "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301835"^^xsd:string) AnnotationAssertion( "GARD:8756"^^xsd:string) AnnotationAssertion( "MESH:C535388"^^xsd:string) AnnotationAssertion( "ORDO:1187"^^xsd:string) AnnotationAssertion( "ARTS"^^xsd:string) AnnotationAssertion( "MRXS18"^^xsd:string) AnnotationAssertion( "MRXSARTS"^^xsd:string) AnnotationAssertion( "fatal X-linked ataxia with deafness and loss of vision"^^xsd:string) AnnotationAssertion( "lethal ataxia with deafness and optic atrophy"^^xsd:string) AnnotationAssertion( "lethal ataxia-deafness-optic atrophy"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 18"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation Arts type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050647"^^xsd:string) AnnotationAssertion(rdfs:label "Arts syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atelosteogenesis) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1"^^xsd:string) "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS108720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050648"^^xsd:string) AnnotationAssertion(rdfs:label "atelosteogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atransferrinemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Atransferrinemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29969719"^^xsd:string) Annotation( "https://www.omim.org/entry/209300"^^xsd:string) "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209300"^^xsd:string) AnnotationAssertion( "GARD:9595"^^xsd:string) AnnotationAssertion( "MESH:C538259"^^xsd:string) AnnotationAssertion( "NCI:C125693"^^xsd:string) AnnotationAssertion( "ORDO:1195"^^xsd:string) AnnotationAssertion( "Congenital Atransferrinemia"^^xsd:string) AnnotationAssertion( "Familial hypotransferrinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TRANSFERRIN VARIANT CHI"^^xsd:string) AnnotationAssertion( "DOID:0050649"^^xsd:string) AnnotationAssertion(rdfs:label "atransferrinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial atrial fibrillation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_atrial_fibrillation"^^xsd:string) "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9740"^^xsd:string) AnnotationAssertion( "MIM:PS608583"^^xsd:string) AnnotationAssertion( "ORDO:334"^^xsd:string) AnnotationAssertion( "ATFB"^^xsd:string) AnnotationAssertion( "familial atrial fibrillations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050650"^^xsd:string) AnnotationAssertion(rdfs:label "familial atrial fibrillation"^^xsd:string) SubClassOf( ) # Class: (atrioventricular septal defect) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrioventricular_septal_defect"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/heartdefects/avsd.html"^^xsd:string) "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606215"^^xsd:string) AnnotationAssertion( "GARD:802"^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.2"^^xsd:string) AnnotationAssertion( "ICD9CM:745.6"^^xsd:string) AnnotationAssertion( "MESH:C562831"^^xsd:string) AnnotationAssertion( "MIM:PS606215"^^xsd:string) AnnotationAssertion( "NCI:C101029"^^xsd:string) AnnotationAssertion( "ORDO:98722"^^xsd:string) AnnotationAssertion( "AVC defect"^^xsd:string) AnnotationAssertion( "AVCD"^^xsd:string) AnnotationAssertion( "AVSD"^^xsd:string) AnnotationAssertion( "Atrioventricular Canal Defect"^^xsd:string) AnnotationAssertion( "ECD"^^xsd:string) AnnotationAssertion( "endocardial cushion defect"^^xsd:string) AnnotationAssertion( "AVSD1"^^xsd:string) AnnotationAssertion( "atrioventricular septal defect, somatic"^^xsd:string) AnnotationAssertion( "atrioventricular septal defect, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050651"^^xsd:string) AnnotationAssertion(rdfs:label "atrioventricular septal defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Baller-Gerold syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1204/"^^xsd:string) "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:218600"^^xsd:string) AnnotationAssertion( "GARD:1602"^^xsd:string) AnnotationAssertion( "MESH:C536788"^^xsd:string) AnnotationAssertion( "ORDO:1223"^^xsd:string) AnnotationAssertion( "BGS"^^xsd:string) AnnotationAssertion( "craniosynostosis with radial defects"^^xsd:string) AnnotationAssertion( "craniosynostosis-radial aplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050654"^^xsd:string) AnnotationAssertion(rdfs:label "Baller-Gerold syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bamforth-Lazarus syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome"^^xsd:string) "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241850"^^xsd:string) AnnotationAssertion( "MESH:C537901"^^xsd:string) AnnotationAssertion( "BAMLAZ"^^xsd:string) AnnotationAssertion( "Bamforth syndrome"^^xsd:string) AnnotationAssertion( "Hypothyroidism cleft palate"^^xsd:string) AnnotationAssertion( "athyroidal hypothyroidism with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "thyroidal hypothyroidism with spiky hair and cleft palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050655"^^xsd:string) AnnotationAssertion(rdfs:label "Bamforth-Lazarus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pseudo-TORCH syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20727516"^^xsd:string) "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537905"^^xsd:string) AnnotationAssertion( "GARD:12426"^^xsd:string) AnnotationAssertion( "MIM:251290"^^xsd:string) AnnotationAssertion( "ORDO:1229"^^xsd:string) AnnotationAssertion( "BLC-PMG"^^xsd:string) AnnotationAssertion( "BLCPMG"^^xsd:string) AnnotationAssertion( "Baraitser-Brett-Piesowicz syndrome"^^xsd:string) AnnotationAssertion( "Baraitser-Reardon syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly intracranial calcification"^^xsd:string) AnnotationAssertion( "PTORCH1"^^xsd:string) AnnotationAssertion( "band-like calcification with simplified gyration and polymicrogyria"^^xsd:string) AnnotationAssertion( "bilateral band-like calcification with polymicrogyria"^^xsd:string) AnnotationAssertion( "microcephaly-intracranial calcification-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050656"^^xsd:string) AnnotationAssertion(rdfs:label "pseudo-TORCH syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bannayan-Riley-Ruvalcaba syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1488/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31062505"^^xsd:string) "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5887"^^xsd:string) AnnotationAssertion( "MIM:158350"^^xsd:string) AnnotationAssertion( "NCI:C3939"^^xsd:string) AnnotationAssertion( "ORDO:109"^^xsd:string) AnnotationAssertion( "BRRS"^^xsd:string) AnnotationAssertion( "BZS"^^xsd:string) AnnotationAssertion( "Bannayan-Zonana syndrome"^^xsd:string) AnnotationAssertion( "CWS1"^^xsd:string) AnnotationAssertion( "Cowden syndrome 1"^^xsd:string) AnnotationAssertion( "RMSS"^^xsd:string) AnnotationAssertion( "Riley-Smith syndrome"^^xsd:string) AnnotationAssertion( "Ruvalcaba Myhre Smith syndrome"^^xsd:string) AnnotationAssertion( "macrocephaly, multiple lipomas and hemangiomata"^^xsd:string) AnnotationAssertion( "macrocephaly, pseudopapilledema and multiple hemangiomas"^^xsd:string) AnnotationAssertion( "macrocephaly, pseudopapilledema, and multiple hemangiomata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050657"^^xsd:string) AnnotationAssertion(rdfs:label "Bannayan-Riley-Ruvalcaba syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bart-Pumphrey syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome"^^xsd:string) "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:149200"^^xsd:string) AnnotationAssertion( "MESH:C537210"^^xsd:string) AnnotationAssertion( "BAPS"^^xsd:string) AnnotationAssertion( "knuckle pads, leukonychia, and sensorineural deafness"^^xsd:string) AnnotationAssertion( "knuckle pads, leukonychia, deafness, and keratosis palmoplantaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050658"^^xsd:string) AnnotationAssertion(rdfs:label "Bart-Pumphrey syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (biotin-responsive basal ganglia disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK169615/"^^xsd:string) "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607483"^^xsd:string) AnnotationAssertion( "MESH:C537658"^^xsd:string) AnnotationAssertion( "BBGD"^^xsd:string) AnnotationAssertion( "BBTGD"^^xsd:string) AnnotationAssertion( "BTBGD"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, THIAMINE-RESPONSIVE"^^xsd:string) AnnotationAssertion( "THMD2"^^xsd:string) AnnotationAssertion( "biotin ganglia disease, biotin-thiamine responsive"^^xsd:string) AnnotationAssertion( "biotin-thiamine-responsive basal ganglia disease"^^xsd:string) AnnotationAssertion( "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050659"^^xsd:string) AnnotationAssertion(rdfs:label "biotin-responsive basal ganglia disease"^^xsd:string) SubClassOf( ) # Class: (Beare-Stevenson cutis gyrata syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome"^^xsd:string) "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123790"^^xsd:string) AnnotationAssertion( "GARD:332"^^xsd:string) AnnotationAssertion( "MESH:C565129"^^xsd:string) AnnotationAssertion( "NCI:C123813"^^xsd:string) AnnotationAssertion( "BSTVS"^^xsd:string) AnnotationAssertion( "Beare-Stevenson syndrome"^^xsd:string) AnnotationAssertion( "cutis gyrata syndrome of Beare and Stevenson"^^xsd:string) AnnotationAssertion( "cutis gyrata syndrome of Beare-Stevenson"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050660"^^xsd:string) AnnotationAssertion(rdfs:label "Beare-Stevenson cutis gyrata syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitelliform macular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy"^^xsd:string) "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10120"^^xsd:string) AnnotationAssertion( "MESH:D057826"^^xsd:string) AnnotationAssertion( "MIM:PS153840"^^xsd:string) AnnotationAssertion( "NCI:C118788"^^xsd:string) AnnotationAssertion( "ORDO:1243"^^xsd:string) AnnotationAssertion( "ORDO:99000"^^xsd:string) AnnotationAssertion( "vitelliform dystrophy"^^xsd:string) AnnotationAssertion( "vitelliform macular dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050661"^^xsd:string) AnnotationAssertion(rdfs:label "vitelliform macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bestrophinopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24859690"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25545482"^^xsd:string) Annotation( "https://www.omim.org/entry/611809"^^xsd:string) "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10301"^^xsd:string) AnnotationAssertion( "MESH:C567518"^^xsd:string) AnnotationAssertion( "MIM:611809"^^xsd:string) AnnotationAssertion( "MONDO:0012733"^^xsd:string) AnnotationAssertion( "OMIA:001444"^^xsd:string) AnnotationAssertion( "OMIA:001553"^^xsd:string) AnnotationAssertion( "OMIA:001554"^^xsd:string) AnnotationAssertion( "ORDO:139455"^^xsd:string) AnnotationAssertion( "ARB"^^xsd:string) AnnotationAssertion( "autosomal recessive bestrophinopathy"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 1"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 2"^^xsd:string) AnnotationAssertion( "Multifocal retinopathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050662"^^xsd:string) AnnotationAssertion(rdfs:label "bestrophinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bethlem myopathy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy"^^xsd:string) "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:873"^^xsd:string) AnnotationAssertion( "MESH:C535436"^^xsd:string) AnnotationAssertion( "MIM:PS158810"^^xsd:string) AnnotationAssertion( "Benign Congenital Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Benign Congenital Myopathy with Contractures"^^xsd:string) AnnotationAssertion( "BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050663"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bietti crystalline corneoretinal dystrophy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string) "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210370"^^xsd:string) AnnotationAssertion( "GARD:10050"^^xsd:string) AnnotationAssertion( "MESH:C535440"^^xsd:string) AnnotationAssertion( "NCI:C179299"^^xsd:string) AnnotationAssertion( "BCD"^^xsd:string) AnnotationAssertion( "Bietti Crystalline Dystrophy"^^xsd:string) AnnotationAssertion( "Bietti Crystalline Retinopathy"^^xsd:string) AnnotationAssertion( "Bietti tapetoretinal degeneration with marginal corneal dystrophy"^^xsd:string) AnnotationAssertion( "Bietti's crystalline corneoretinal dystrophy"^^xsd:string) AnnotationAssertion( "Bietti's crystalline dystrophy"^^xsd:string) AnnotationAssertion( "CYP4V2-related disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050664"^^xsd:string) AnnotationAssertion(rdfs:label "Bietti crystalline corneoretinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fetal alcohol syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q86.0"^^xsd:string) AnnotationAssertion( "MONDO:0016011"^^xsd:string) AnnotationAssertion( "NCI:C84713"^^xsd:string) AnnotationAssertion( "ORDO:1915"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050665"^^xsd:string) AnnotationAssertion(rdfs:label "fetal alcohol syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (partial fetal alcohol syndrome) AnnotationAssertion(Annotation( "http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050666"^^xsd:string) AnnotationAssertion(rdfs:label "partial fetal alcohol syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alcohol-related neurodevelopmental disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ARND"^^xsd:string) AnnotationAssertion( "static encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050667"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol-related neurodevelopmental disorder"^^xsd:string) SubClassOf( ) # Class: (alcohol-related birth defects) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C576203"^^xsd:string) AnnotationAssertion( "ARBD"^^xsd:string) AnnotationAssertion( "alcohol fetopathy"^^xsd:string) AnnotationAssertion( "alcohol-related birth defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050668"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol-related birth defects"^^xsd:string) SubClassOf( ) # Class: (spastic cerebral palsy) AnnotationAssertion(Annotation( "http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html"^^xsd:string) "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "spastic cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050669"^^xsd:string) AnnotationAssertion(rdfs:label "spastic cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (ataxic cerebral palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string) Annotation( "http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html"^^xsd:string) "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10451"^^xsd:string) AnnotationAssertion( "MESH:C562856"^^xsd:string) AnnotationAssertion( "MIM:605388"^^xsd:string) AnnotationAssertion( "MONDO:0000397"^^xsd:string) AnnotationAssertion( "ACP"^^xsd:string) AnnotationAssertion( "ataxic cerebral palsy, autosomal recessive"^^xsd:string) AnnotationAssertion( "hypotonic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050670"^^xsd:string) AnnotationAssertion(rdfs:label "ataxic cerebral palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (female breast cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24703317"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25002350"^^xsd:string) "A breast cancer that develops from breast tissue in females. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050671"^^xsd:string) AnnotationAssertion(rdfs:label "female breast cancer"^^xsd:string) SubClassOf( ) # Class: (dyskinetic cerebral palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string) "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003331"^^xsd:string) AnnotationAssertion( "athetoid dyskinetic cerebral palsy"^^xsd:string) AnnotationAssertion( "dyskinetic cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050672"^^xsd:string) AnnotationAssertion(rdfs:label "dyskinetic cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (mixed cerebral palsy) AnnotationAssertion(Annotation( "http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy"^^xsd:string) Annotation( "http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html"^^xsd:string) "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "mixed cerebral palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050673"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12543708"^^xsd:string) "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009039"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.8"^^xsd:string) AnnotationAssertion( "MIM:PS607765"^^xsd:string) AnnotationAssertion( "ORDO:485631"^^xsd:string) AnnotationAssertion( "CBA"^^xsd:string) AnnotationAssertion( "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050674"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Birk-Barel syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy"^^xsd:string) "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612292"^^xsd:string) AnnotationAssertion( "GARD:10358"^^xsd:string) AnnotationAssertion( "MESH:C567357"^^xsd:string) AnnotationAssertion( "BIBARS"^^xsd:string) AnnotationAssertion( "Birk-Barel intellectual disability dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "Birk-Barel mental retardation dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "mental retardation with hypotonia and facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050675"^^xsd:string) AnnotationAssertion(rdfs:label "Birk-Barel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Birt-Hogg-Dube syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string) "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:135150"^^xsd:string) AnnotationAssertion( "MIM:620459"^^xsd:string) AnnotationAssertion( "OMIA:001335"^^xsd:string) AnnotationAssertion( "EFO:1001273"^^xsd:string) AnnotationAssertion( "GARD:2322"^^xsd:string) AnnotationAssertion( "MESH:D058249"^^xsd:string) AnnotationAssertion( "MONDO:0007607"^^xsd:string) AnnotationAssertion( "NCI:C28244"^^xsd:string) AnnotationAssertion( "ORDO:122"^^xsd:string) AnnotationAssertion( "BHD"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dubé syndrome"^^xsd:string) AnnotationAssertion( "Hornstein-Birt-Hogg-Dubé syndrome"^^xsd:string) AnnotationAssertion( "Hornstein-Knickenberg syndrome"^^xsd:string) AnnotationAssertion( "fibrofolliculomas with trichodiscomas and acrochordons"^^xsd:string) AnnotationAssertion( "renal cystadenocarcinoma and nodular dermatofibrosis"^^xsd:string) AnnotationAssertion( "BHD1"^^xsd:string) AnnotationAssertion( "BHD2"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dube syndrome 1"^^xsd:string) AnnotationAssertion( "Birt-Hogg-Dube syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050676"^^xsd:string) AnnotationAssertion(rdfs:label "Birt-Hogg-Dube syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bjornstad syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/"^^xsd:string) "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262000"^^xsd:string) AnnotationAssertion( "BCS1L-related disorder"^^xsd:string) AnnotationAssertion( "GARD:22"^^xsd:string) AnnotationAssertion( "MESH:C537633"^^xsd:string) AnnotationAssertion( "ORDO:123"^^xsd:string) AnnotationAssertion( "BJS"^^xsd:string) AnnotationAssertion( "PTD"^^xsd:string) AnnotationAssertion( "deafness and pili torti, Bjornstad type"^^xsd:string) AnnotationAssertion( "deafness-pili torti-hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "pili torti and nerve deafness"^^xsd:string) AnnotationAssertion( "pili torti-deafness syndrome"^^xsd:string) AnnotationAssertion( "pili torti-sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050677"^^xsd:string) AnnotationAssertion(rdfs:label "Bjornstad syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blau syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blau_syndrome"^^xsd:string) Annotation( "http://www.omim.org/entry/186580?search=186580&highlight=186580"^^xsd:string) "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186580"^^xsd:string) AnnotationAssertion( "GARD:304"^^xsd:string) AnnotationAssertion( "MESH:C538157"^^xsd:string) AnnotationAssertion( "NCI:C116794"^^xsd:string) AnnotationAssertion( "ACUG"^^xsd:string) AnnotationAssertion( "BLAUS"^^xsd:string) AnnotationAssertion( "Familial Juvenile Systemic Granulomatosis"^^xsd:string) AnnotationAssertion( "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial"^^xsd:string) AnnotationAssertion( "Jabs syndrome"^^xsd:string) AnnotationAssertion( "arthrocutaneouveal granulomatosis"^^xsd:string) AnnotationAssertion( "familial granulomatosis, Blau type"^^xsd:string) AnnotationAssertion( "pediatric granulomatous arthritis"^^xsd:string) AnnotationAssertion( "synovitis granulomatous with uveitis and cranial neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050678"^^xsd:string) AnnotationAssertion(rdfs:label "Blau syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blue cone monochromacy) AnnotationAssertion(Annotation( "http://omim.org/entry/303700"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16"^^xsd:string) "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO)"^^xsd:string) AnnotationAssertion( "GARD:917"^^xsd:string) AnnotationAssertion( "MESH:C536238"^^xsd:string) AnnotationAssertion( "MIM:303700"^^xsd:string) AnnotationAssertion( "MONDO:0010563"^^xsd:string) AnnotationAssertion( "ORDO:15"^^xsd:string) AnnotationAssertion( "BCM"^^xsd:string) AnnotationAssertion( "blue cone monochromatism"^^xsd:string) AnnotationAssertion( "color blindness blue mono cone monochromatic type"^^xsd:string) AnnotationAssertion( "CBBM CONE DYSTROPHY 5, X-LINKED"^^xsd:string) AnnotationAssertion( "COD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cone dystrophy 5, X-linked"^^xsd:string) AnnotationAssertion( "DOID:0050679"^^xsd:string) AnnotationAssertion(rdfs:label "blue cone monochromacy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Boomerang dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112310"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "GARD:933"^^xsd:string) AnnotationAssertion( "MESH:C536573"^^xsd:string) AnnotationAssertion( "Boomerang-like skeletal dysplasia"^^xsd:string) AnnotationAssertion( "Dwarfism with short, bowed, rigid limbs and characteristic facies"^^xsd:string) AnnotationAssertion( "Piepkorn dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050680"^^xsd:string) AnnotationAssertion(rdfs:label "Boomerang dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Borjeson-Forssman-Lehmann syndrome) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1"^^xsd:string) Annotation( "http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html"^^xsd:string) "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301900"^^xsd:string) AnnotationAssertion( "GARD:936"^^xsd:string) AnnotationAssertion( "MESH:C536575"^^xsd:string) AnnotationAssertion( "NCI:C157122"^^xsd:string) AnnotationAssertion( "ORDO:127"^^xsd:string) AnnotationAssertion( "BFLS"^^xsd:string) AnnotationAssertion( "BORJ"^^xsd:string) AnnotationAssertion( "Borjeson syndrome"^^xsd:string) AnnotationAssertion( "MRXSBFL"^^xsd:string) AnnotationAssertion( "intellectual deficiency-epilepsy-endocrine disorders syndrome"^^xsd:string) AnnotationAssertion( "mental deficiency, epilepsy and endocrine disorders"^^xsd:string) AnnotationAssertion( "mental retardation, epilepsy, and endocrine disorder"^^xsd:string) AnnotationAssertion( "mental retardation, epilepsy, and endocrine disorders"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050681"^^xsd:string) AnnotationAssertion(rdfs:label "Borjeson-Forssman-Lehmann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Athabaskan brainstem dysgenesis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18412118"^^xsd:string) Annotation( "https://www.omim.org/entry/601536"^^xsd:string) "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601536"^^xsd:string) AnnotationAssertion( "MESH:C535397"^^xsd:string) AnnotationAssertion( "ORDO:69739"^^xsd:string) AnnotationAssertion( "ABDS"^^xsd:string) AnnotationAssertion( "Athabaskan brainstem dysgenesis"^^xsd:string) AnnotationAssertion( "HOXA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Navajo brainstem syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BSAS"^^xsd:string) AnnotationAssertion( "Bosley-Salih-Alorainy syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050682"^^xsd:string) AnnotationAssertion(rdfs:label "Athabaskan brainstem dysgenesis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bothnia retinal dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11176989"^^xsd:string) Annotation( "https://www.omim.org/entry/607475"^^xsd:string) "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607475"^^xsd:string) AnnotationAssertion( "MESH:C564392"^^xsd:string) AnnotationAssertion( "Vasterbotten dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050683"^^xsd:string) AnnotationAssertion(rdfs:label "Bothnia retinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bowen-Conradi syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19463982"^^xsd:string) Annotation( "https://www.omim.org/entry/211180"^^xsd:string) "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211180"^^xsd:string) AnnotationAssertion( "GARD:5950"^^xsd:string) AnnotationAssertion( "MESH:C537081"^^xsd:string) AnnotationAssertion( "ORDO:1270"^^xsd:string) AnnotationAssertion( "BWCNS"^^xsd:string) AnnotationAssertion( "Bowen Hutterite syndrome"^^xsd:string) AnnotationAssertion( "Bowen-Conradi Hutterite syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050684"^^xsd:string) AnnotationAssertion(rdfs:label "Bowen-Conradi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (small cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Small_cell_carcinoma"^^xsd:string) "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182280"^^xsd:string) AnnotationAssertion( "EFO:0008524"^^xsd:string) AnnotationAssertion( "EFO:1000519"^^xsd:string) AnnotationAssertion( "ICDO:8041/3"^^xsd:string) AnnotationAssertion( "MESH:D018288"^^xsd:string) AnnotationAssertion( "NCI:C4099"^^xsd:string) AnnotationAssertion( "SCCL"^^xsd:string) AnnotationAssertion( "SCLC"^^xsd:string) AnnotationAssertion( "SCLC1"^^xsd:string) AnnotationAssertion( "oat cell carcinoma"^^xsd:string) AnnotationAssertion( "oat cell carcinomas"^^xsd:string) AnnotationAssertion( "small cell carcinoma, intermediate cell"^^xsd:string) AnnotationAssertion( "small cell carcinomas"^^xsd:string) AnnotationAssertion( "Salivary Gland Small Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050685"^^xsd:string) AnnotationAssertion(rdfs:label "small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (organ system cancer) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/by-body-location"^^xsd:string) "A cancer that is classified based on the organ it starts in. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050686"^^xsd:string) AnnotationAssertion(rdfs:label "organ system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cell type cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cancer"^^xsd:string) "A cancer that is classified by the type of cell from which it is derived. (DO)"^^xsd:string) AnnotationAssertion( "cancer by histologic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050687"^^xsd:string) AnnotationAssertion(rdfs:label "cell type cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal canal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_canal"^^xsd:string) "A large intestine cancer that is located_in the terminal part of the large intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050688"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly-syndactyly syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236141"^^xsd:string) Annotation( "https://www.omim.org/entry/610713"^^xsd:string) "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610713"^^xsd:string) AnnotationAssertion( "MESH:C565193"^^xsd:string) AnnotationAssertion( "BDSD"^^xsd:string) AnnotationAssertion( "BDSDO"^^xsd:string) AnnotationAssertion( "brachydactyly-syndactyly-oligodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050689"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly-syndactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachyolmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10968486"^^xsd:string) "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008880"^^xsd:string) AnnotationAssertion( "GARD:10903"^^xsd:string) AnnotationAssertion( "MESH:C537098"^^xsd:string) AnnotationAssertion( "ORDO:1293"^^xsd:string) AnnotationAssertion( "brachyrachia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050690"^^xsd:string) AnnotationAssertion(rdfs:label "brachyolmia"^^xsd:string) SubClassOf( ) # Class: (branchiooculofacial syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK55063/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract"^^xsd:string) "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3212"^^xsd:string) AnnotationAssertion( "MIM:113620"^^xsd:string) AnnotationAssertion( "BOF syndrome"^^xsd:string) AnnotationAssertion( "BOFS"^^xsd:string) AnnotationAssertion( "TFAP2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging"^^xsd:string) AnnotationAssertion( "branchio oculo facial syndrome"^^xsd:string) AnnotationAssertion( "hemangiomatous branchial clefts lip pseudocleft syndrome"^^xsd:string) AnnotationAssertion( "lip pseudocleft hemangiomatous branchial cyst syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050691"^^xsd:string) AnnotationAssertion(rdfs:label "branchiooculofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brody myopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/brody-myopathy"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions"^^xsd:string) "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601003"^^xsd:string) AnnotationAssertion( "GARD:9158"^^xsd:string) AnnotationAssertion( "MESH:C536607"^^xsd:string) AnnotationAssertion( "Brody disease"^^xsd:string) AnnotationAssertion( "autosomal recessive Brody myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050692"^^xsd:string) AnnotationAssertion(rdfs:label "Brody myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brooke-Spiegler syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome"^^xsd:string) "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:132700"^^xsd:string) AnnotationAssertion( "MIM:601606"^^xsd:string) AnnotationAssertion( "MIM:605041"^^xsd:string) AnnotationAssertion( "GARD:10179"^^xsd:string) AnnotationAssertion( "MESH:C536611"^^xsd:string) AnnotationAssertion( "ORDO:79493"^^xsd:string) AnnotationAssertion( "Ancell-Spiegler cylindromas"^^xsd:string) AnnotationAssertion( "BRSS"^^xsd:string) AnnotationAssertion( "BSS"^^xsd:string) AnnotationAssertion( "Brooke-Fordyce trichoepitheliomas"^^xsd:string) AnnotationAssertion( "CYLD cutaneous syndrome"^^xsd:string) AnnotationAssertion( "EAC"^^xsd:string) AnnotationAssertion( "Epithelioma adenoides cysticum of Brooke"^^xsd:string) AnnotationAssertion( "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA"^^xsd:string) AnnotationAssertion( "Familial Trichoepithelioma"^^xsd:string) AnnotationAssertion( "MFT1"^^xsd:string) AnnotationAssertion( "SBS"^^xsd:string) AnnotationAssertion( "Turban tumor syndrome"^^xsd:string) AnnotationAssertion( "Turban tumors"^^xsd:string) AnnotationAssertion( "dermal eccrine cylindroma"^^xsd:string) AnnotationAssertion( "dermal eccrine cylindromas"^^xsd:string) AnnotationAssertion( "familial cylindromatosis"^^xsd:string) AnnotationAssertion( "hereditary multiple benign cystic epithelioma"^^xsd:string) AnnotationAssertion( "multiple familial trichoepithelioma"^^xsd:string) AnnotationAssertion( "multiple familial trichoepithelioma 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050693"^^xsd:string) AnnotationAssertion(rdfs:label "Brooke-Spiegler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brown-Vialetto-Van Laere syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21110228"^^xsd:string) "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537111"^^xsd:string) AnnotationAssertion( "MIM:PS211530"^^xsd:string) AnnotationAssertion( "pontobulbar palsy and neurosensory deafness"^^xsd:string) AnnotationAssertion( "pontobulbar palsy with deafness"^^xsd:string) AnnotationAssertion( "progressive bulbar palsy with sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050694"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Vialetto-Van Laere syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant pleural solitary fibrous tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17075563"^^xsd:string) "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050695"^^xsd:string) AnnotationAssertion(rdfs:label "malignant pleural solitary fibrous tumor"^^xsd:string) SubClassOf( ) # Class: (fetal alcohol spectrum disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D063647"^^xsd:string) AnnotationAssertion( "FAE (Fetal Alcohol Effects)"^^xsd:string) AnnotationAssertion( "FASD"^^xsd:string) AnnotationAssertion( "Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction"^^xsd:string) AnnotationAssertion( "alcohol related birth defects"^^xsd:string) AnnotationAssertion( "fetal alcohol syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050696"^^xsd:string) AnnotationAssertion(rdfs:label "fetal alcohol spectrum disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chorioamnionitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chorioamnionitis"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/Chorioamnionitis"^^xsd:string) "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009948"^^xsd:string) AnnotationAssertion( "MESH:D002821"^^xsd:string) AnnotationAssertion( "amnionitides"^^xsd:string) AnnotationAssertion( "amnionitis"^^xsd:string) AnnotationAssertion( "chorioamnionitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050697"^^xsd:string) AnnotationAssertion(rdfs:label "chorioamnionitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (funisitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Funisitis"^^xsd:string) "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "funisitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050698"^^xsd:string) AnnotationAssertion(rdfs:label "funisitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dent disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dent%27s_disease"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/dent-disease"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652"^^xsd:string) Annotation( "https://www.dentdisease.org/"^^xsd:string) "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13105"^^xsd:string) AnnotationAssertion( "MESH:D057973"^^xsd:string) AnnotationAssertion( "MIM:PS300009"^^xsd:string) AnnotationAssertion( "NCI:C123260"^^xsd:string) AnnotationAssertion( "ORDO:1652"^^xsd:string) AnnotationAssertion( "Dent's disease"^^xsd:string) AnnotationAssertion( "Dents disease"^^xsd:string) AnnotationAssertion( "X-linked hypercalciuric nephrocalcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050699"^^xsd:string) AnnotationAssertion(rdfs:label "Dent disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/cm/"^^xsd:string) "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000318"^^xsd:string) AnnotationAssertion( "EFO:0000767"^^xsd:string) AnnotationAssertion( "EFO:0002629"^^xsd:string) AnnotationAssertion( "EFO:0002945"^^xsd:string) AnnotationAssertion( "ICD10CM:I42"^^xsd:string) AnnotationAssertion( "ICD9CM:425"^^xsd:string) AnnotationAssertion( "ICD9CM:425.9"^^xsd:string) AnnotationAssertion( "MESH:D009202"^^xsd:string) AnnotationAssertion( "NCI:C34830"^^xsd:string) AnnotationAssertion( "NCI:C53654"^^xsd:string) AnnotationAssertion( "Myocardial Disease"^^xsd:string) AnnotationAssertion( "Myocardial Diseases"^^xsd:string) AnnotationAssertion( "Myocardiopathies"^^xsd:string) AnnotationAssertion( "Myocardiopathy"^^xsd:string) AnnotationAssertion( "Primary Cardiomyopathies"^^xsd:string) AnnotationAssertion( "Primary Cardiomyopathy"^^xsd:string) AnnotationAssertion( "Primary Myocardial Disease"^^xsd:string) AnnotationAssertion( "Primary Myocardial Diseases"^^xsd:string) AnnotationAssertion( "Secondary Cardiomyopathies"^^xsd:string) AnnotationAssertion( "Secondary Cardiomyopathy"^^xsd:string) AnnotationAssertion( "cardiomyopathies"^^xsd:string) AnnotationAssertion( "cardiomyopathy with or without skeletal myopathy"^^xsd:string) AnnotationAssertion( "secondary myocardial disease"^^xsd:string) AnnotationAssertion( "secondary myocardial diseases"^^xsd:string) AnnotationAssertion( "Familial Cardiomyopathy"^^xsd:string) AnnotationAssertion( "HYPOKINETIC NON-DILATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "PRKAG2 Cardiac Syndrome"^^xsd:string) AnnotationAssertion( "TXNRD2-ASSOCIATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "idiopathic cardiomyopathy"^^xsd:string) AnnotationAssertion( "viral cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "DOID:0050700"^^xsd:string) AnnotationAssertion(rdfs:label "cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (electroclinical syndrome) AnnotationAssertion(Annotation( "http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string) "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "electro-clinical syndrome"^^xsd:string) AnnotationAssertion( "TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050701"^^xsd:string) AnnotationAssertion(rdfs:label "electroclinical syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal period electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22182677"^^xsd:string) "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050702"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal period electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (infancy electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string) "An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050703"^^xsd:string) AnnotationAssertion(rdfs:label "infancy electroclinical syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string) "An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002706"^^xsd:string) AnnotationAssertion( "RDO:9002463"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050704"^^xsd:string) AnnotationAssertion(rdfs:label "childhood electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (adolescence-adult electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20196795"^^xsd:string) "An electroclinical syndrome with onset in adolescence and adulthood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002464"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050705"^^xsd:string) AnnotationAssertion(rdfs:label "adolescence-adult electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (variable age at onset electroclinical syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/"^^xsd:string) "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002465"^^xsd:string) AnnotationAssertion( "RDO:9002709"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050706"^^xsd:string) AnnotationAssertion(rdfs:label "variable age at onset electroclinical syndrome"^^xsd:string) SubClassOf( ) # Class: (early onset absence epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24099057"^^xsd:string) "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050708"^^xsd:string) AnnotationAssertion(rdfs:label "early onset absence epilepsy"^^xsd:string) SubClassOf( ) # Class: (early infantile epileptic encephalopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ohtahara_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm"^^xsd:string) "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:2481"^^xsd:string) AnnotationAssertion( "EFO:1000643"^^xsd:string) AnnotationAssertion( "GARD:9255"^^xsd:string) AnnotationAssertion( "NCI:C122814"^^xsd:string) AnnotationAssertion( "ORDO:1934"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy with burst-suppression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050709"^^xsd:string) AnnotationAssertion(rdfs:label "early infantile epileptic encephalopathy"^^xsd:string) SubClassOf( ) # Class: (3-methylcrotonyl-CoA carboxylase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency"^^xsd:string) Annotation( "http://omim.org/entry/210200"^^xsd:string) "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10954"^^xsd:string) AnnotationAssertion( "MIM:PS210200"^^xsd:string) AnnotationAssertion( "NCI:C98674"^^xsd:string) AnnotationAssertion( "ORDO:6"^^xsd:string) AnnotationAssertion( "3-MCC deficiency"^^xsd:string) AnnotationAssertion( "3-Methylcrotonylglycinuria"^^xsd:string) AnnotationAssertion( "3-methylcrotonyl-Coenzyme A carboxylase deficiency"^^xsd:string) AnnotationAssertion( "3MCC deficiency"^^xsd:string) AnnotationAssertion( "BMCC deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of Methylcrotonoyl-Coa Carboxylase"^^xsd:string) AnnotationAssertion( "MCC deficiency"^^xsd:string) AnnotationAssertion( "methylcrotonyl-Coa carboxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050710"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylcrotonyl-CoA carboxylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aceruloplasminemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aceruloplasminemia"^^xsd:string) Annotation( "http://omim.org/entry/604290?search=604290&highlight=604290"^^xsd:string) "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9499"^^xsd:string) AnnotationAssertion( "MESH:C536004"^^xsd:string) AnnotationAssertion( "MIM:604290"^^xsd:string) AnnotationAssertion( "NCI:C189281"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF FERROXIDASE"^^xsd:string) AnnotationAssertion( "NBIA10"^^xsd:string) AnnotationAssertion( "familial apoceruloplasmin deficiency"^^xsd:string) AnnotationAssertion( "hereditary hypoceruloplasminemia"^^xsd:string) AnnotationAssertion( "neurodegeneration with brain iron accumulation-10"^^xsd:string) AnnotationAssertion( "CERULOPLASMIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "hypoceruloplasminemia"^^xsd:string) AnnotationAssertion( "systemic hemosiderosis due to aceruloplasminemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050711"^^xsd:string) AnnotationAssertion(rdfs:label "aceruloplasminemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AGAT deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612718"^^xsd:string) AnnotationAssertion( "GATM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567192"^^xsd:string) AnnotationAssertion( "NCI:C198575"^^xsd:string) AnnotationAssertion( "CCDS3"^^xsd:string) AnnotationAssertion( "GATM deficiency"^^xsd:string) AnnotationAssertion( "L-Arginine:Glycine Aminidotransferase Deficiency"^^xsd:string) AnnotationAssertion( "arginine:glycine amidinotransferase deficiency"^^xsd:string) AnnotationAssertion( "cerebral creatine deficiency syndrome 3"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome due to AGAT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050712"^^xsd:string) AnnotationAssertion(rdfs:label "AGAT deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (COX deficiency, infantile mitochondrial myopathy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:1561"^^xsd:string) AnnotationAssertion( "fatal infantile COX deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile cytochrome C oxidase deficiency"^^xsd:string) AnnotationAssertion( "fatal infantile encephalocardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050713"^^xsd:string) AnnotationAssertion(rdfs:label "COX deficiency, infantile mitochondrial myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblC) AnnotationAssertion(Annotation( "http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22"^^xsd:string) "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277400"^^xsd:string) AnnotationAssertion( "MESH:C537359"^^xsd:string) AnnotationAssertion( "NCI:C142174"^^xsd:string) AnnotationAssertion( "Cobalamin C deficiency"^^xsd:string) AnnotationAssertion( "MAHCC"^^xsd:string) AnnotationAssertion( "cobalamin-C methylmalonic acidemia and homocystinuria"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia and homocystinuria, cblC type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria and homocystinuria, vitamin B12-responsive"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblC type"^^xsd:string) AnnotationAssertion( "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase"^^xsd:string) AnnotationAssertion( "methylmalonic Acidemia with Homocystinuria"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia and homocystinemia"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblC type, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050715"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblC"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblD) AnnotationAssertion(Annotation( "http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18385497"^^xsd:string) "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277410"^^xsd:string) AnnotationAssertion( "MESH:C564743"^^xsd:string) AnnotationAssertion( "NCI:C183524"^^xsd:string) AnnotationAssertion( "Cobalamin D deficiency"^^xsd:string) AnnotationAssertion( "MAHCD"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD"^^xsd:string) AnnotationAssertion( "Methylmalonic Acidemia and Homocystinuria, CblD Type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, cblD type"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA, cblD TYPE, VARIANT 1"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDEMIA, cblH TYPE"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050716"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblD"^^xsd:string) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblF) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21910240"^^xsd:string) "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277380"^^xsd:string) AnnotationAssertion( "MESH:C564747"^^xsd:string) AnnotationAssertion( "NCI:C183525"^^xsd:string) AnnotationAssertion( "Cobalamin F deficiency"^^xsd:string) AnnotationAssertion( "MAHCF"^^xsd:string) AnnotationAssertion( "Methylmalonic Acidemia and Homocystinuria, CblF Type"^^xsd:string) AnnotationAssertion( "Methylmalonic Aciduria due to Vitamin B12-Release Defect"^^xsd:string) AnnotationAssertion( "Vitamin B12 Lysosomal Release Defect"^^xsd:string) AnnotationAssertion( "cblF"^^xsd:string) AnnotationAssertion( "cobalamin F disease"^^xsd:string) AnnotationAssertion( "defect in lysosomal release of cobalamin"^^xsd:string) AnnotationAssertion( "vitamin B12 storage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050717"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblF"^^xsd:string) SubClassOf( ) # Class: (vitamin metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string) "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005596"^^xsd:string) AnnotationAssertion( "RDO:9003867"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050718"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (cerebral folate receptor alpha deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/B_vitamins"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19732866"^^xsd:string) "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613068"^^xsd:string) AnnotationAssertion( "MESH:C567791"^^xsd:string) AnnotationAssertion( "NCFTD"^^xsd:string) AnnotationAssertion( "cerebral folate deficiency"^^xsd:string) AnnotationAssertion( "neurodegeneration due to cerebral folate transport deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050719"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral folate receptor alpha deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ornithine translocase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:238970"^^xsd:string) AnnotationAssertion( "MESH:C538380"^^xsd:string) AnnotationAssertion( "MONDO:0009393"^^xsd:string) AnnotationAssertion( "NCI:C129029"^^xsd:string) AnnotationAssertion( "HHH"^^xsd:string) AnnotationAssertion( "HHH syndrome"^^xsd:string) AnnotationAssertion( "HHHS"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome"^^xsd:string) AnnotationAssertion( "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"^^xsd:string) AnnotationAssertion( "triple H syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050720"^^xsd:string) AnnotationAssertion(rdfs:label "ornithine translocase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (serine deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15021249"^^xsd:string) "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS256520"^^xsd:string) AnnotationAssertion( "RDO:9004040"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050721"^^xsd:string) AnnotationAssertion(rdfs:label "serine deficiency"^^xsd:string) SubClassOf( ) # Class: (PHGDH deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pubmed?term=18296366"^^xsd:string) Annotation( "http://www.omim.org/entry/601815"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601815"^^xsd:string) AnnotationAssertion( "RDO:0014928"^^xsd:string) AnnotationAssertion( "MESH:C566618"^^xsd:string) AnnotationAssertion( "PHGDHD"^^xsd:string) AnnotationAssertion( "phosphoglycerate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050722"^^xsd:string) AnnotationAssertion(rdfs:label "PHGDH deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PSAT deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/"^^xsd:string) Annotation( "http://www.omim.org/entry/610992?search=610992&highlight=610992"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610992"^^xsd:string) AnnotationAssertion( "PSAT1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567032"^^xsd:string) AnnotationAssertion( "PSATD"^^xsd:string) AnnotationAssertion( "Phosphoserine Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050723"^^xsd:string) AnnotationAssertion(rdfs:label "PSAT deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PSPH deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/PSPH"^^xsd:string) Annotation( "http://www.omim.org/entry/614023"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350"^^xsd:string) "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614023"^^xsd:string) AnnotationAssertion( "PSPHD"^^xsd:string) AnnotationAssertion( "phosphoserine phosphatase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050724"^^xsd:string) AnnotationAssertion(rdfs:label "PSPH deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tyrosinemia type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tyrosinemia_type_II"^^xsd:string) Annotation( "http://www.omim.org/entry/276600?search=276600&highlight=276600"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276600"^^xsd:string) AnnotationAssertion( "NCI:C129032"^^xsd:string) AnnotationAssertion( "ORDO:28378"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndrome"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type"^^xsd:string) AnnotationAssertion( "Richner-Hanhart syndromes"^^xsd:string) AnnotationAssertion( "TYRSN2"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia type II"^^xsd:string) AnnotationAssertion( "oculocutaneous tyrosinemia"^^xsd:string) AnnotationAssertion( "type 2 tyrosinemia"^^xsd:string) AnnotationAssertion( "type 2 tyrosinemias"^^xsd:string) AnnotationAssertion( "type II tyrosinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050725"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tyrosinemia type I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Type_I_tyrosinemia"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276700"^^xsd:string) AnnotationAssertion( "NCI:C98641"^^xsd:string) AnnotationAssertion( "TYRSN1"^^xsd:string) AnnotationAssertion( "hepatorenal tyrosinemia"^^xsd:string) AnnotationAssertion( "hepatorenal tyrosinemias"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia, type I"^^xsd:string) AnnotationAssertion( "type I hypertyrosinemia"^^xsd:string) AnnotationAssertion( "tyrosinemia type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050726"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type I"^^xsd:string) SubClassOf( ) # Class: (tyrosinemia type III) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Type_III_tyrosinemia"^^xsd:string) Annotation( "http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia"^^xsd:string) "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:276710"^^xsd:string) AnnotationAssertion( "4 hydroxyphenol pyruvic acid oxidase deficiency disease"^^xsd:string) AnnotationAssertion( "4 hydroxyphenylpyruvate dioxygenase deficiency disease"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvate dioxygenase deficiencies"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvate dioxygenase deficiency"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvic acid oxidase deficiency"^^xsd:string) AnnotationAssertion( "TYRSN3"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemia, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050727"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia type III"^^xsd:string) SubClassOf( ) # Class: (glycogen metabolism disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism"^^xsd:string) "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050728"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen metabolism disorder"^^xsd:string) SubClassOf( ) # Class: (Chanarin-Dorfman syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome"^^xsd:string) "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275630"^^xsd:string) AnnotationAssertion( "GARD:3979"^^xsd:string) AnnotationAssertion( "MESH:C536560"^^xsd:string) AnnotationAssertion( "ORDO:98907"^^xsd:string) AnnotationAssertion( "CDS"^^xsd:string) AnnotationAssertion( "Chanarin-Dorfman disease"^^xsd:string) AnnotationAssertion( "DCS"^^xsd:string) AnnotationAssertion( "NLSDI"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma with leukocyte vacuolation"^^xsd:string) AnnotationAssertion( "ichthyotic neutral lipid storage disease"^^xsd:string) AnnotationAssertion( "neutral lipid storage disease"^^xsd:string) AnnotationAssertion( "neutral lipid storage disease with ichthyosis"^^xsd:string) AnnotationAssertion( "neutral lipid storage myopathy"^^xsd:string) AnnotationAssertion( "triglyceride storage disease with ichthyosis"^^xsd:string) AnnotationAssertion( "triglyceride storage disease with impaired long-chain fatty acid oxidation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050729"^^xsd:string) AnnotationAssertion(rdfs:label "Chanarin-Dorfman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (coenzyme Q10 deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity"^^xsd:string) "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10423"^^xsd:string) AnnotationAssertion( "MESH:C564403"^^xsd:string) AnnotationAssertion( "MIM:PS607426"^^xsd:string) AnnotationAssertion( "CoQ Deficiency"^^xsd:string) AnnotationAssertion( "coenzyme Q deficiency"^^xsd:string) AnnotationAssertion( "primary CoQ10 deficiency"^^xsd:string) AnnotationAssertion( "primary coenzyme Q10 deficiency"^^xsd:string) AnnotationAssertion( "ubiquinone deficiency"^^xsd:string) AnnotationAssertion( "COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE"^^xsd:string) AnnotationAssertion( "COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050730"^^xsd:string) AnnotationAssertion(rdfs:label "coenzyme Q10 deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitamin B12 deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/B12_deficiency"^^xsd:string) "A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612542"^^xsd:string) AnnotationAssertion( "EFO:0000734"^^xsd:string) AnnotationAssertion( "MESH:D014806"^^xsd:string) AnnotationAssertion( "cobalamin deficiency"^^xsd:string) AnnotationAssertion( "hypocobalaminemia"^^xsd:string) AnnotationAssertion( "vitamin B12 deficiencies"^^xsd:string) AnnotationAssertion( "acquired cobalamin-deficient neuropathy"^^xsd:string) AnnotationAssertion( "vitamin B12 deficiency anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050731"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin B12 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblE) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb"^^xsd:string) Annotation( "https://www.omim.org/entry/236270"^^xsd:string) "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050732"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblE"^^xsd:string) SubClassOf( ) # Class: (methylmalonic aciduria and homocystinuria type cblG) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf"^^xsd:string) Annotation( "https://www.omim.org/entry/250940"^^xsd:string) "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250940"^^xsd:string) AnnotationAssertion( "EFO:0005597"^^xsd:string) AnnotationAssertion( "MESH:C565394"^^xsd:string) AnnotationAssertion( "ORDO:2170"^^xsd:string) AnnotationAssertion( "HMAG"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE"^^xsd:string) AnnotationAssertion( "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type"^^xsd:string) AnnotationAssertion( "METHIONINE SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "methylcobalamin deficiency type CblG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050733"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria and homocystinuria type cblG"^^xsd:string) SubClassOf( ) # Class: (congenital intrinsic factor deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/261000?search=261000&highlight=261000"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14695536"^^xsd:string) "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261000"^^xsd:string) AnnotationAssertion( "MESH:C563242"^^xsd:string) AnnotationAssertion( "IFD"^^xsd:string) AnnotationAssertion( "congenital pernicious anemia, due to defect of intrinsic factor"^^xsd:string) AnnotationAssertion( "hereditary intrinsic factor deficiency"^^xsd:string) AnnotationAssertion( "intrinsic factor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050734"^^xsd:string) AnnotationAssertion(rdfs:label "congenital intrinsic factor deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked monogenic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D040181"^^xsd:string) AnnotationAssertion( "Genetic Diseases, X Chromosome Linked"^^xsd:string) AnnotationAssertion( "X-linked disease"^^xsd:string) AnnotationAssertion( "X-linked genetic disease"^^xsd:string) AnnotationAssertion( "X-linked inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050735"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked monogenic disease"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm"^^xsd:string) "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050736"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant disease"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm"^^xsd:string) "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050737"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive disease"^^xsd:string) SubClassOf( ) # Class: (Y-linked monogenic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked"^^xsd:string) "A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D050174"^^xsd:string) AnnotationAssertion( "Y chromosome linked genetic diseases"^^xsd:string) AnnotationAssertion( "Y-linked disease"^^xsd:string) AnnotationAssertion( "Y-linked genetic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050738"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked monogenic disease"^^xsd:string) SubClassOf( ) # Class: (autosomal genetic disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/glossary=autosomaldominant"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns"^^xsd:string) "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050739"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal genetic disease"^^xsd:string) SubClassOf( ) # Class: (Qazi Markouizos syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/600096"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010"^^xsd:string) "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600096"^^xsd:string) AnnotationAssertion( "GARD:371"^^xsd:string) AnnotationAssertion( "MESH:C536259"^^xsd:string) AnnotationAssertion( "Puerto Rican infant hypotonia syndrome"^^xsd:string) AnnotationAssertion( "Puertorican infant hypotonia syndrome"^^xsd:string) AnnotationAssertion( "dysharmonic skeletal maturation muscular fibre disproportion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050740"^^xsd:string) AnnotationAssertion(rdfs:label "Qazi Markouizos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alcohol dependence) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Alcohol_dependence"^^xsd:string) "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "GABRA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0003829"^^xsd:string) AnnotationAssertion( "MIM:103780"^^xsd:string) AnnotationAssertion( "MONDO:0007079"^^xsd:string) AnnotationAssertion( "alcohol addiction"^^xsd:string) AnnotationAssertion( "alcoholism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050741"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol dependence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nicotine dependence) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nicotine_dependence"^^xsd:string) "A substance dependence that is characterized by a physical dependence on nicotine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "CHRNA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0003768"^^xsd:string) AnnotationAssertion( "ICD10CM:F17"^^xsd:string) AnnotationAssertion( "MIM:188890"^^xsd:string) AnnotationAssertion( "NCI:C54203"^^xsd:string) AnnotationAssertion( "tobacco use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CIGARETTE HABITUATION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NICOTINE ADDICTION, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "NICOTINE ADDICTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "SMOKING HABIT, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "tobacco addiction, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050742"^^xsd:string) AnnotationAssertion(rdfs:label "nicotine dependence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mature T-cell and NK-cell lymphoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=393800"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44062"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21919697"^^xsd:string) "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NK-T cell lymphoma"^^xsd:string) AnnotationAssertion( "mature T-cell and natural killer cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050743"^^xsd:string) AnnotationAssertion(rdfs:label "mature T-cell and NK-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (anaplastic large cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology"^^xsd:string) "A non-Hodgkin lymphoma involving aberrant T-cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003032"^^xsd:string) AnnotationAssertion( "EFO:1000156"^^xsd:string) AnnotationAssertion( "ICDO:9714/3"^^xsd:string) AnnotationAssertion( "MESH:D017728"^^xsd:string) AnnotationAssertion( "NCI:C3720"^^xsd:string) AnnotationAssertion( "CD30 Positive Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "CD30+ Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Ki 1 Lymphoma"^^xsd:string) AnnotationAssertion( "Ki-1 Lymphomas"^^xsd:string) AnnotationAssertion( "Lymphoma, Large-Cell, Ki-1"^^xsd:string) AnnotationAssertion( "anaplastic large-cell lymphomas"^^xsd:string) AnnotationAssertion( "systemic anaplastic large cell lymphoma"^^xsd:string) AnnotationAssertion( "Central Nervous System Anaplastic Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050744"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic large cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma"^^xsd:string) Annotation( "https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28487884"^^xsd:string) "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000403"^^xsd:string) AnnotationAssertion( "EFO:1000144"^^xsd:string) AnnotationAssertion( "EFO:1000191"^^xsd:string) AnnotationAssertion( "EFO:1000495"^^xsd:string) AnnotationAssertion( "EFO:1000534"^^xsd:string) AnnotationAssertion( "EFO:1000547"^^xsd:string) AnnotationAssertion( "EFO:1000587"^^xsd:string) AnnotationAssertion( "GARD:3178"^^xsd:string) AnnotationAssertion( "ICD11:2A81.Z"^^xsd:string) AnnotationAssertion( "ICDO:9680/3"^^xsd:string) AnnotationAssertion( "MESH:D016403"^^xsd:string) AnnotationAssertion( "NCI:C45605"^^xsd:string) AnnotationAssertion( "NCI:C80280"^^xsd:string) AnnotationAssertion( "NCI:C8851"^^xsd:string) AnnotationAssertion( "DLBCL"^^xsd:string) AnnotationAssertion( "diffuse histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "diffuse histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "diffuse large cell lymphoma"^^xsd:string) AnnotationAssertion( "diffuse large lymphoid lymphoma"^^xsd:string) AnnotationAssertion( "diffuse large-cell lymphomas"^^xsd:string) AnnotationAssertion( "histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "Breast Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Colorectal Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "PCLBCL"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Thyroid Gland Diffuse Large B-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "primary cutaneous large B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050745"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (mantle cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mantle_cell_lymphoma"^^xsd:string) "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000272"^^xsd:string) AnnotationAssertion( "EFO:1000549"^^xsd:string) AnnotationAssertion( "EFO:1001469"^^xsd:string) AnnotationAssertion( "GARD:6969"^^xsd:string) AnnotationAssertion( "ICDO:9673/3"^^xsd:string) AnnotationAssertion( "MESH:D020522"^^xsd:string) AnnotationAssertion( "NCI:C187985"^^xsd:string) AnnotationAssertion( "NCI:C4337"^^xsd:string) AnnotationAssertion( "Centrocytic Small-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Lymphocytic Lymphoma, Poorly Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Lymphocytic, Intermediate"^^xsd:string) AnnotationAssertion( "Mantle Cell Lymphoma, Somatic"^^xsd:string) AnnotationAssertion( "Mantle Zone Lymphoma"^^xsd:string) AnnotationAssertion( "Mantle-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "centrocytic small-cell lymphomas"^^xsd:string) AnnotationAssertion( "mantle-zone lymphomas"^^xsd:string) AnnotationAssertion( "Gastric Mantle Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Splenic Mantle Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050746"^^xsd:string) AnnotationAssertion(rdfs:label "mantle cell lymphoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (marginal zone lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=562554"^^xsd:string) "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000630"^^xsd:string) AnnotationAssertion( "MESH:D018442"^^xsd:string) AnnotationAssertion( "marginal zone B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050748"^^xsd:string) AnnotationAssertion(rdfs:label "marginal zone lymphoma"^^xsd:string) SubClassOf( ) # Class: (peripheral T-cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma"^^xsd:string) "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000211"^^xsd:string) AnnotationAssertion( "GARD:7368"^^xsd:string) AnnotationAssertion( "MESH:D016411"^^xsd:string) AnnotationAssertion( "peripheral T-cell lymphomas"^^xsd:string) AnnotationAssertion( "unspecified peripheral T-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050749"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral T-cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic marginal zone lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma"^^xsd:string) "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000550"^^xsd:string) AnnotationAssertion( "NCI:C4663"^^xsd:string) AnnotationAssertion( "splenic lymphoma with villous lymphocytes"^^xsd:string) AnnotationAssertion( "splenic marginal zone B-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050750"^^xsd:string) AnnotationAssertion(rdfs:label "splenic marginal zone lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T-cell large granular lymphocyte leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia"^^xsd:string) "A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9831/3"^^xsd:string) AnnotationAssertion( "MESH:D054066"^^xsd:string) AnnotationAssertion( "NCI:C4664"^^xsd:string) AnnotationAssertion( "NCI:C64066"^^xsd:string) AnnotationAssertion( "Aggressive NK Cell Leukemia"^^xsd:string) AnnotationAssertion( "Aggressive Natural Killer Cell Leukemia"^^xsd:string) AnnotationAssertion( "LGL Leukemia"^^xsd:string) AnnotationAssertion( "LGL leukemias"^^xsd:string) AnnotationAssertion( "Large Granular Lymphocyte Leukemia"^^xsd:string) AnnotationAssertion( "Large Granular Lymphocytosis"^^xsd:string) AnnotationAssertion( "Large granular lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "Leukemia, Large Granular Lymphocytic"^^xsd:string) AnnotationAssertion( "Lymphoproliferative Disease of Large Granular Lymphocytes"^^xsd:string) AnnotationAssertion( "NK Cell Large Granular Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "NK LGL leukemia"^^xsd:string) AnnotationAssertion( "NK-LGL leukemias"^^xsd:string) AnnotationAssertion( "Natural Killer Cell Large Granular Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "T-LGL leukemia"^^xsd:string) AnnotationAssertion( "T-LGL leukemias"^^xsd:string) AnnotationAssertion( "T-cell large granular lymphocyte leukaemia"^^xsd:string) AnnotationAssertion( "T-cell large granular lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "large granular lymphocytoses"^^xsd:string) AnnotationAssertion( "lymphoproliferative disease of granular lymphocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050751"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell large granular lymphocyte leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 8) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/608627"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608627"^^xsd:string) AnnotationAssertion( "GARD:10499"^^xsd:string) AnnotationAssertion( "MESH:C563895"^^xsd:string) AnnotationAssertion( "NCI:C168751"^^xsd:string) AnnotationAssertion( "ALS8"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050752"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 8"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebellar_ataxia"^^xsd:string) "A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000078"^^xsd:string) AnnotationAssertion( "OMIA:001692"^^xsd:string) AnnotationAssertion( "OMIA:001913"^^xsd:string) AnnotationAssertion( "OMIA:001954"^^xsd:string) AnnotationAssertion( "OMIA:002110"^^xsd:string) AnnotationAssertion( "MESH:D002524"^^xsd:string) AnnotationAssertion( "Adiadochokinesis"^^xsd:string) AnnotationAssertion( "Cerebellar Dysmetria"^^xsd:string) AnnotationAssertion( "Cerebellar Dysmetrias"^^xsd:string) AnnotationAssertion( "Cerebellar Hemiataxia"^^xsd:string) AnnotationAssertion( "Cerebellar Hemiataxias"^^xsd:string) AnnotationAssertion( "Cerebellar Incoordination"^^xsd:string) AnnotationAssertion( "Cerebellar Incoordinations"^^xsd:string) AnnotationAssertion( "Dysmetria"^^xsd:string) AnnotationAssertion( "Dysmetrias"^^xsd:string) AnnotationAssertion( "adiadochokineses"^^xsd:string) AnnotationAssertion( "cerebellar ataxias"^^xsd:string) AnnotationAssertion( "hypermetria"^^xsd:string) AnnotationAssertion( "hypermetrias"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, juvenile to adolescent, RAB24-related"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, neonatal"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, neonatal, GRM1-related"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, progressive early-onset"^^xsd:string) AnnotationAssertion( "Ataxia, cerebellar, progressive early-onset, SEL1L-related"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, juvenile to adolescent"^^xsd:string) AnnotationAssertion( "neurodegenerative vacuolar storage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050753"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ataxia with oculomotor apraxia type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208920"^^xsd:string) AnnotationAssertion( "GARD:9283"^^xsd:string) AnnotationAssertion( "MESH:C538013"^^xsd:string) AnnotationAssertion( "AOA"^^xsd:string) AnnotationAssertion( "AOA1"^^xsd:string) AnnotationAssertion( "Ataxia-telangiectasia-like syndrome"^^xsd:string) AnnotationAssertion( "EAOH"^^xsd:string) AnnotationAssertion( "Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia"^^xsd:string) AnnotationAssertion( "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia"^^xsd:string) AnnotationAssertion( "adult-onset ataxia with oculomotor apraxia"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 1"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia syndrome"^^xsd:string) AnnotationAssertion( "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA"^^xsd:string) AnnotationAssertion( "EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050754"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia with oculomotor apraxia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia with axonal neuropathy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19696032/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23786967/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1154/"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:606002"^^xsd:string) AnnotationAssertion( "SETX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETX-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "SETX-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:12860"^^xsd:string) AnnotationAssertion( "MESH:C537308"^^xsd:string) AnnotationAssertion( "NCI:C165500"^^xsd:string) AnnotationAssertion( "ORDO:64753"^^xsd:string) AnnotationAssertion( "AOA2"^^xsd:string) AnnotationAssertion( "SCAN2"^^xsd:string) AnnotationAssertion( "SCAR1"^^xsd:string) AnnotationAssertion( "ataxia with oculomotor apraxia"^^xsd:string) AnnotationAssertion( "ataxia with oculomotor apraxia type 2"^^xsd:string) AnnotationAssertion( "ataxia-ocular apraxia 2"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 2"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 1"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2"^^xsd:string) AnnotationAssertion( "recessive spinocerebellar ataxia, Non-Friedreich type 1"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with axonal neuropathy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050755"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia with axonal neuropathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (deafness-dystonia-optic neuronopathy syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome"^^xsd:string) Annotation( "http://omim.org/entry/304700"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1216/"^^xsd:string) "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0050867"^^xsd:string) AnnotationAssertion( "MIM:304700"^^xsd:string) AnnotationAssertion( "MESH:C535808"^^xsd:string) AnnotationAssertion( "MESH:C537568"^^xsd:string) AnnotationAssertion( "ORDO:3213"^^xsd:string) AnnotationAssertion( "DDP"^^xsd:string) AnnotationAssertion( "DDS"^^xsd:string) AnnotationAssertion( "Jensen syndrome"^^xsd:string) AnnotationAssertion( "MTS"^^xsd:string) AnnotationAssertion( "Mohr-Tranebjaerg syndrome"^^xsd:string) AnnotationAssertion( "Mohr-Tranebjærg Syndrome"^^xsd:string) AnnotationAssertion( "deafness (DFN-1) dystonia, mental deficiency and blindness"^^xsd:string) AnnotationAssertion( "deafness dystonia syndrome"^^xsd:string) AnnotationAssertion( "deafness-dystonia-optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "nerve deafness, optic nerve atrophy, and dementia"^^xsd:string) AnnotationAssertion( "opticoacoustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "opticoacustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency"^^xsd:string) AnnotationAssertion( "syndrome of opticoacoustic nerve atrophy with dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050757"^^xsd:string) AnnotationAssertion(rdfs:label "deafness-dystonia-optic neuronopathy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (metabolic acidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Metabolic_acidosis"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000335.htm"^^xsd:string) "An acquired metabolic disease that characterized by excessive production of acid. (DO)"^^xsd:string) AnnotationAssertion( "metabolic acidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050758"^^xsd:string) AnnotationAssertion(rdfs:label "metabolic acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myotonic dystrophy type 2) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1466/"^^xsd:string) "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9728"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.1"^^xsd:string) AnnotationAssertion( "MIM:602668"^^xsd:string) AnnotationAssertion( "NCI:C122789"^^xsd:string) AnnotationAssertion( "NCI:C122790"^^xsd:string) AnnotationAssertion( "ORDO:606"^^xsd:string) AnnotationAssertion( "Ricker disease"^^xsd:string) AnnotationAssertion( "Ricker syndrome"^^xsd:string) AnnotationAssertion( "proximal myotonic dystrophy"^^xsd:string) AnnotationAssertion( "proximal myotonic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050759"^^xsd:string) AnnotationAssertion(rdfs:label "myotonic dystrophy type 2"^^xsd:string) SubClassOf( ) # Class: (X-linked myopathy with excessive autophagy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/"^^xsd:string) "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310440"^^xsd:string) AnnotationAssertion( "RDO:0013167"^^xsd:string) AnnotationAssertion( "GARD:3892"^^xsd:string) AnnotationAssertion( "MESH:C564093"^^xsd:string) AnnotationAssertion( "MEAX"^^xsd:string) AnnotationAssertion( "XMEA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050760"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked myopathy with excessive autophagy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (adenylosuccinase lyase deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency"^^xsd:string) "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103050"^^xsd:string) AnnotationAssertion( "GARD:550"^^xsd:string) AnnotationAssertion( "MESH:C538235"^^xsd:string) AnnotationAssertion( "RDO:0004188"^^xsd:string) AnnotationAssertion( "ADSL deficiency"^^xsd:string) AnnotationAssertion( "ADSL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADSLD"^^xsd:string) AnnotationAssertion( "Adenylosuccinase deficiency"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 1"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 2"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 3"^^xsd:string) AnnotationAssertion( "Adenylosuccinate lyase deficiency type 4"^^xsd:string) AnnotationAssertion( "adenylosuccinate lyase deficiency"^^xsd:string) AnnotationAssertion( "succinylpurinemic autism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050762"^^xsd:string) AnnotationAssertion(rdfs:label "adenylosuccinase lyase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ARC syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16896922"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22753090"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24415890"^^xsd:string) "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535382"^^xsd:string) AnnotationAssertion( "MIM:PS208085"^^xsd:string) AnnotationAssertion( "ORDO:2697"^^xsd:string) AnnotationAssertion( "ARCS"^^xsd:string) AnnotationAssertion( "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME"^^xsd:string) AnnotationAssertion( "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis"^^xsd:string) AnnotationAssertion( "arthrogryposis renal dysfunction cholestasis syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis with renal dysfunction and cholestasis syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis, renal dysfunction, and cholestasis"^^xsd:string) AnnotationAssertion( "arthrogryposis-renal dysfunction-cholestasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050763"^^xsd:string) AnnotationAssertion(rdfs:label "ARC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Armfield syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10398235"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300261"^^xsd:string) AnnotationAssertion( "MESH:C564551"^^xsd:string) AnnotationAssertion( "ORDO:85276"^^xsd:string) AnnotationAssertion( "Armfield X-Linked Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "FAM50A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRXSA"^^xsd:string) AnnotationAssertion( "Mental Retardation, X-Linked, Armfield Type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndrome, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked syndromic intellectual developmental disorder, Armfield type"^^xsd:string) AnnotationAssertion( "X-linked syndromic mental retardation, Armfield type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050764"^^xsd:string) AnnotationAssertion(rdfs:label "Armfield syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroacanthocytosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neuroacanthocytosis"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/neuroacanthocytosis/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1387/"^^xsd:string) "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10902"^^xsd:string) AnnotationAssertion( "MESH:D054546"^^xsd:string) AnnotationAssertion( "ORDO:263440"^^xsd:string) AnnotationAssertion( "acanthocytosis with neurologic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050765"^^xsd:string) AnnotationAssertion(rdfs:label "neuroacanthocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choreaacanthocytosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chorea_acanthocytosis"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9382101"^^xsd:string) "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3956"^^xsd:string) AnnotationAssertion( "MIM:200150"^^xsd:string) AnnotationAssertion( "NCI:C84926"^^xsd:string) AnnotationAssertion( "ORDO:2388"^^xsd:string) AnnotationAssertion( "CHAC"^^xsd:string) AnnotationAssertion( "Levine-Critchley syndrome"^^xsd:string) AnnotationAssertion( "VPS13A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "chorea acanthocytosis"^^xsd:string) AnnotationAssertion( "chorea acanthocytosis syndrome"^^xsd:string) AnnotationAssertion( "choreo-acanthocytosis"^^xsd:string) AnnotationAssertion( "choreoacanthocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050766"^^xsd:string) AnnotationAssertion(rdfs:label "choreaacanthocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (midface dysplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Frontonasal_dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050767"^^xsd:string) AnnotationAssertion(rdfs:label "midface dysplasia"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 1) AnnotationAssertion(Annotation( "http://omim.org/entry/604273"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604273"^^xsd:string) AnnotationAssertion( "MC5DN1"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050768"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 1"^^xsd:string) SubClassOf( ) # Class: (N syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3902/n-syndrome"^^xsd:string) "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310465"^^xsd:string) AnnotationAssertion( "GARD:3902"^^xsd:string) AnnotationAssertion( "MESH:C536108"^^xsd:string) AnnotationAssertion( "ORDO:2608"^^xsd:string) AnnotationAssertion( "NSX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050769"^^xsd:string) AnnotationAssertion(rdfs:label "N syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polycystic liver disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/polycystic-liver-disease/"^^xsd:string) "A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "cystic liver disease"^^xsd:string) AnnotationAssertion( "EFO:1001505"^^xsd:string) AnnotationAssertion( "GARD:9457"^^xsd:string) AnnotationAssertion( "MESH:C536330"^^xsd:string) AnnotationAssertion( "MIM:PS174050"^^xsd:string) AnnotationAssertion( "congenital cystic disease of liver"^^xsd:string) AnnotationAssertion( "congenital cystic liver disease"^^xsd:string) AnnotationAssertion( "congenital hepatic cyst"^^xsd:string) AnnotationAssertion( "fibrocystic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050770"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic liver disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pheochromocytoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367"^^xsd:string) Annotation( "https://www.omim.org/entry/171300"^^xsd:string) "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO)"^^xsd:string) AnnotationAssertion( "MIM:171300"^^xsd:string) AnnotationAssertion( "EFO:1000106"^^xsd:string) AnnotationAssertion( "GARD:7385"^^xsd:string) AnnotationAssertion( "MESH:D010673"^^xsd:string) AnnotationAssertion( "MONDO:0008233"^^xsd:string) AnnotationAssertion( "Benign Adrenal Gland Pheochromocytoma"^^xsd:string) AnnotationAssertion( "phaeochromocytoma"^^xsd:string) AnnotationAssertion( "pheochromocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pheochromocytoma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050771"^^xsd:string) AnnotationAssertion(rdfs:label "pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (spastic ataxia 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type"^^xsd:string) "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108600"^^xsd:string) AnnotationAssertion( "MESH:C566993"^^xsd:string) AnnotationAssertion( "SPAX1"^^xsd:string) AnnotationAssertion( "spastic ataxia 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050772"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paraganglioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paraganglioma"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma"^^xsd:string) "A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000364"^^xsd:string) AnnotationAssertion( "EFO:0000489"^^xsd:string) AnnotationAssertion( "EFO:0020005"^^xsd:string) AnnotationAssertion( "EFO:1000128"^^xsd:string) AnnotationAssertion( "EFO:1000453"^^xsd:string) AnnotationAssertion( "EFO:1000621"^^xsd:string) AnnotationAssertion( "ICDO:8680/3"^^xsd:string) AnnotationAssertion( "MESH:D010235"^^xsd:string) AnnotationAssertion( "MESH:D010236"^^xsd:string) AnnotationAssertion( "MIM:PS168000"^^xsd:string) AnnotationAssertion( "NCI:C3308"^^xsd:string) AnnotationAssertion( "CBT1"^^xsd:string) AnnotationAssertion( "Chemodectomas"^^xsd:string) AnnotationAssertion( "Extra-Adrenal Paraganglioma"^^xsd:string) AnnotationAssertion( "Extra-Adrenal Paragangliomas"^^xsd:string) AnnotationAssertion( "Non-Chromaffin Paraganglioma"^^xsd:string) AnnotationAssertion( "Non-Chromaffin Paragangliomas"^^xsd:string) AnnotationAssertion( "Nonchromaffin Paraganglioma"^^xsd:string) AnnotationAssertion( "Nonchromaffin Paragangliomas"^^xsd:string) AnnotationAssertion( "PGL"^^xsd:string) AnnotationAssertion( "chemodectoma"^^xsd:string) AnnotationAssertion( "extra-adrenal sympathetic paraganglioma"^^xsd:string) AnnotationAssertion( "gangliocytic paraganglioma"^^xsd:string) AnnotationAssertion( "gangliocytic paragangliomas"^^xsd:string) AnnotationAssertion( "glomus body tumor"^^xsd:string) AnnotationAssertion( "hereditary paragangliomas and pheochromocytomas"^^xsd:string) AnnotationAssertion( "paragangliomas"^^xsd:string) AnnotationAssertion( "paragangliomata"^^xsd:string) AnnotationAssertion( "pheochromocytoma-paraganglioma"^^xsd:string) AnnotationAssertion( "Bladder Paraganglioma"^^xsd:string) AnnotationAssertion( "Vagus Nerve Paraganglioma"^^xsd:string) AnnotationAssertion( "paraganglioma, familial malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050773"^^xsd:string) AnnotationAssertion(rdfs:label "paraganglioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rapadilino syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome"^^xsd:string) "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266280"^^xsd:string) AnnotationAssertion( "GARD:4637"^^xsd:string) AnnotationAssertion( "MESH:C535288"^^xsd:string) AnnotationAssertion( "ORDO:3021"^^xsd:string) AnnotationAssertion( "radial and patellar aplasia"^^xsd:string) AnnotationAssertion( "radial and patellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050774"^^xsd:string) AnnotationAssertion(rdfs:label "rapadilino syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (schneckenbecken dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0002274"^^xsd:string) AnnotationAssertion( "GARD:169"^^xsd:string) AnnotationAssertion( "MESH:C536637"^^xsd:string) AnnotationAssertion( "MIM:269250"^^xsd:string) AnnotationAssertion( "Chondrodysplasia, lethal neonatal, with snail-like pelvis"^^xsd:string) AnnotationAssertion( "SHNKND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050775"^^xsd:string) AnnotationAssertion(rdfs:label "schneckenbecken dysplasia"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7011032"^^xsd:string) "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564490"^^xsd:string) AnnotationAssertion( "MIM:PS309530"^^xsd:string) AnnotationAssertion( "ORDO:777"^^xsd:string) AnnotationAssertion( "X-linked non-specific mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050776"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Joubert_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/213300?search=joubert&highlight=joubert"^^xsd:string) "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6802"^^xsd:string) AnnotationAssertion( "MIM:PS213300"^^xsd:string) AnnotationAssertion( "NCI:C74996"^^xsd:string) AnnotationAssertion( "ORDO:475"^^xsd:string) AnnotationAssertion( "JBTS"^^xsd:string) AnnotationAssertion( "Joubert syndrome and related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050777"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Meckel_syndrome"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract"^^xsd:string) "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3436"^^xsd:string) AnnotationAssertion( "ICD9CM:753.1"^^xsd:string) AnnotationAssertion( "MIM:PS249000"^^xsd:string) AnnotationAssertion( "NCI:C98978"^^xsd:string) AnnotationAssertion( "ORDO:564"^^xsd:string) AnnotationAssertion( "Meckel Gruber syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050778"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome"^^xsd:string) SubClassOf( ) # Class: (hydrolethalus syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15843405"^^xsd:string) "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000033"^^xsd:string) AnnotationAssertion( "GARD:6683"^^xsd:string) AnnotationAssertion( "MESH:C536079"^^xsd:string) AnnotationAssertion( "MIM:PS236680"^^xsd:string) AnnotationAssertion( "MONDO:0006037"^^xsd:string) AnnotationAssertion( "ORDO:2189"^^xsd:string) AnnotationAssertion( "Salonen-Herva-Norio syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050779"^^xsd:string) AnnotationAssertion(rdfs:label "hydrolethalus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ogden syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ogden_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21700266"^^xsd:string) "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300855"^^xsd:string) AnnotationAssertion( "NCI:C188215"^^xsd:string) AnnotationAssertion( "ORDO:276432"^^xsd:string) AnnotationAssertion( "N-alpha-acetyltransferase"^^xsd:string) AnnotationAssertion( "N-terminal acetyltransferase deficiency"^^xsd:string) AnnotationAssertion( "NATD"^^xsd:string) AnnotationAssertion( "OGDNS"^^xsd:string) AnnotationAssertion( "X-linked malformation and infantile lethality syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050781"^^xsd:string) AnnotationAssertion(rdfs:label "Ogden syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zollinger-Ellison syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28949124"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome"^^xsd:string) "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007549"^^xsd:string) AnnotationAssertion( "GARD:7918"^^xsd:string) AnnotationAssertion( "ICD10CM:E16.4"^^xsd:string) AnnotationAssertion( "MESH:D015043"^^xsd:string) AnnotationAssertion( "NCI:C3453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050782"^^xsd:string) AnnotationAssertion(rdfs:label "Zollinger-Ellison syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (secondary progressive multiple sclerosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string) Annotation( "http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms"^^xsd:string) "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003840"^^xsd:string) AnnotationAssertion( "EFO:0008522"^^xsd:string) AnnotationAssertion( "SPMS"^^xsd:string) AnnotationAssertion( "Secondary-progressive MS"^^xsd:string) AnnotationAssertion( "chronic progressive multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050783"^^xsd:string) AnnotationAssertion(rdfs:label "secondary progressive multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (primary progressive multiple sclerosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string) Annotation( "http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx"^^xsd:string) "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008520"^^xsd:string) AnnotationAssertion( "MESH:D020528"^^xsd:string) AnnotationAssertion( "PPMS"^^xsd:string) AnnotationAssertion( "chronic progressive multiple sclerosis"^^xsd:string) AnnotationAssertion( "primary-progressive MS"^^xsd:string) AnnotationAssertion( "progressive remittent multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050784"^^xsd:string) AnnotationAssertion(rdfs:label "primary progressive multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (progressive relapsing multiple sclerosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35400704/"^^xsd:string) "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "PRMS"^^xsd:string) AnnotationAssertion( "progressive-relapsing MS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050785"^^xsd:string) AnnotationAssertion(rdfs:label "progressive relapsing multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (iridogoniodysgenesis syndrome) AnnotationAssertion(Annotation( "http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/3026/disease/resources/1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19175065"^^xsd:string) "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0011119"^^xsd:string) AnnotationAssertion( "ORDO:98634"^^xsd:string) AnnotationAssertion( "IGDS"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050786"^^xsd:string) AnnotationAssertion(rdfs:label "iridogoniodysgenesis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (juvenile polyposis syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome"^^xsd:string) Annotation( "http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1469/"^^xsd:string) "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)"^^xsd:string) AnnotationAssertion( "MIM:174900"^^xsd:string) AnnotationAssertion( "EFO:1000310"^^xsd:string) AnnotationAssertion( "GARD:3065"^^xsd:string) AnnotationAssertion( "MESH:C537702"^^xsd:string) AnnotationAssertion( "BMPR1A-related juvenile polyposis"^^xsd:string) AnnotationAssertion( "GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI"^^xsd:string) AnnotationAssertion( "JIP"^^xsd:string) AnnotationAssertion( "JPS"^^xsd:string) AnnotationAssertion( "JUVENILE POLYPOSIS"^^xsd:string) AnnotationAssertion( "Juvenile Polyposis Of Infancy"^^xsd:string) AnnotationAssertion( "Juvenile Polyposis, Infantile"^^xsd:string) AnnotationAssertion( "PJI"^^xsd:string) AnnotationAssertion( "SMAD4-related juvenile polyposis"^^xsd:string) AnnotationAssertion( "familial polyposis of entire gastrointestinal tract"^^xsd:string) AnnotationAssertion( "juvenile intestinal polyposis"^^xsd:string) AnnotationAssertion( "juvenile polyposis of stomach"^^xsd:string) AnnotationAssertion( "JUVENILE POLYPOSIS COLI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Juvenile Polyp"^^xsd:string) AnnotationAssertion( "DOID:0050787"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile polyposis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proximal symphalangism) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1"^^xsd:string) "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8182"^^xsd:string) AnnotationAssertion( "MESH:C536223"^^xsd:string) AnnotationAssertion( "MIM:PS185800"^^xsd:string) AnnotationAssertion( "ORDO:3250"^^xsd:string) AnnotationAssertion( "Cushing symphalangism"^^xsd:string) AnnotationAssertion( "Cushing's symphalangism"^^xsd:string) AnnotationAssertion( "Strasburger-Hawkins-Eldridge syndrome"^^xsd:string) AnnotationAssertion( "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome"^^xsd:string) AnnotationAssertion( "Vessel's syndrome"^^xsd:string) AnnotationAssertion( "hereditary absence of proximal interphalangeal joints"^^xsd:string) AnnotationAssertion( "hereditary absence of the proximal interphalangeal joints"^^xsd:string) AnnotationAssertion( "SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050788"^^xsd:string) AnnotationAssertion(rdfs:label "proximal symphalangism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tarsal-carpal coalition syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22326510"^^xsd:string) "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9225"^^xsd:string) AnnotationAssertion( "MESH:C536943"^^xsd:string) AnnotationAssertion( "MIM:186570"^^xsd:string) AnnotationAssertion( "MONDO:0008521"^^xsd:string) AnnotationAssertion( "ORDO:1412"^^xsd:string) AnnotationAssertion( "NOG-Related-Symphalangism Spectrum Disorder"^^xsd:string) AnnotationAssertion( "TCC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "synostosis of talus and calcaneus with short stature"^^xsd:string) AnnotationAssertion( "DOID:0050789"^^xsd:string) AnnotationAssertion(rdfs:label "tarsal-carpal coalition syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibular hypoplasia and complex brachydactyly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acromesomelic_dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16222676"^^xsd:string) "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228900"^^xsd:string) AnnotationAssertion( "MESH:C537931"^^xsd:string) AnnotationAssertion( "ORDO:2639"^^xsd:string) AnnotationAssertion( "AMD2B"^^xsd:string) AnnotationAssertion( "Du Pan syndrome"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050790"^^xsd:string) AnnotationAssertion(rdfs:label "fibular hypoplasia and complex brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (persistent Mullerian duct syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome"^^xsd:string) Annotation( "http://omim.org/entry/261550?search=261550&highlight=261550"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20352001"^^xsd:string) "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261550"^^xsd:string) AnnotationAssertion( "OMIA:000791"^^xsd:string) AnnotationAssertion( "GARD:8435"^^xsd:string) AnnotationAssertion( "MESH:C536665"^^xsd:string) AnnotationAssertion( "MONDO:0009857"^^xsd:string) AnnotationAssertion( "NCI:C120188"^^xsd:string) AnnotationAssertion( "ORDO:2856"^^xsd:string) AnnotationAssertion( "AMHR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE"^^xsd:string) AnnotationAssertion( "PMDS"^^xsd:string) AnnotationAssertion( "Persistent M?llerian Duct Syndrome"^^xsd:string) AnnotationAssertion( "Persistent mullerian duct syndrome, types 1 and 2"^^xsd:string) AnnotationAssertion( "hernia uteri inguinale"^^xsd:string) AnnotationAssertion( "persistent Muellerian duct syndrome"^^xsd:string) AnnotationAssertion( "persistent Mullerian duct syndrome, types I and II"^^xsd:string) AnnotationAssertion( "persistent oviduct syndrome"^^xsd:string) AnnotationAssertion( "pseudohermaphroditism, male internal"^^xsd:string) AnnotationAssertion( "AMH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Persistent Mullerian duct syndrome, type I"^^xsd:string) AnnotationAssertion( "Persistent Mullerian duct syndrome, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050791"^^xsd:string) AnnotationAssertion(rdfs:label "persistent Mullerian duct syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple cutaneous and mucosal venous malformations) AnnotationAssertion(Annotation( "http://omim.org/entry/600195?search=600195&highlight=600195"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301733"^^xsd:string) "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600195"^^xsd:string) AnnotationAssertion( "TEK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563977"^^xsd:string) AnnotationAssertion( "ORDO:2451"^^xsd:string) AnnotationAssertion( "VMCM"^^xsd:string) AnnotationAssertion( "VMCM1"^^xsd:string) AnnotationAssertion( "cutaneomucosal venous malformation"^^xsd:string) AnnotationAssertion( "mucocutaneous venous malformations"^^xsd:string) AnnotationAssertion( "CUTANEOUS VENOUS MALFORMATION"^^xsd:string) AnnotationAssertion( "SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050792"^^xsd:string) AnnotationAssertion(rdfs:label "multiple cutaneous and mucosal venous malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (short QT syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Short_QT_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/short-qt-syndrome"^^xsd:string) Annotation( "http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083"^^xsd:string) "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004690"^^xsd:string) AnnotationAssertion( "MESH:C580439"^^xsd:string) AnnotationAssertion( "MIM:PS609620"^^xsd:string) AnnotationAssertion( "MONDO:0000453"^^xsd:string) AnnotationAssertion( "NCI:C71060"^^xsd:string) AnnotationAssertion( "SHORT QT SYNDROME 4"^^xsd:string) AnnotationAssertion( "SHORT QT SYNDROME 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050793"^^xsd:string) AnnotationAssertion(rdfs:label "short QT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple synostoses syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/"^^xsd:string) "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS186500"^^xsd:string) AnnotationAssertion( "ORDO:3237"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050794"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cone dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cone_dystrophy"^^xsd:string) Annotation( "http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1418/"^^xsd:string) "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:11897"^^xsd:string) AnnotationAssertion( "MESH:D000077765"^^xsd:string) AnnotationAssertion( "retinal cone dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050795"^^xsd:string) AnnotationAssertion(rdfs:label "cone dystrophy"^^xsd:string) SubClassOf( ) # Class: (achalasia microcephaly syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/200450"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/456/disease/resources/1"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN"^^xsd:string) "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO)"^^xsd:string) AnnotationAssertion( "MIM:200450"^^xsd:string) AnnotationAssertion( "GARD:456"^^xsd:string) AnnotationAssertion( "MESH:C536010"^^xsd:string) AnnotationAssertion( "achalasia microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050796"^^xsd:string) AnnotationAssertion(rdfs:label "achalasia microcephaly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peroxisomal acyl-CoA oxidase deficiency) AnnotationAssertion(Annotation( "http://www.omim.org/entry/264470"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11815777"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17458872"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18536048"^^xsd:string) "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:264470"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:4543"^^xsd:string) AnnotationAssertion( "MESH:C536662"^^xsd:string) AnnotationAssertion( "NCI:C170437"^^xsd:string) AnnotationAssertion( "ORDO:2971"^^xsd:string) AnnotationAssertion( "peroxisomal acyl-coenzyme A oxidase"^^xsd:string) AnnotationAssertion( "pseudoneonatal adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "straight-chain ACYL-COA oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050797"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisomal acyl-CoA oxidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral creatine deficiency syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17603797"^^xsd:string) Annotation( "https://www.omim.org/entry/300352"^^xsd:string) "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS300352"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050798"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral creatine deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (guanidinoacetate methyltransferase deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency"^^xsd:string) "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612736"^^xsd:string) AnnotationAssertion( "GARD:2578"^^xsd:string) AnnotationAssertion( "MESH:C537622"^^xsd:string) AnnotationAssertion( "NCI:C173468"^^xsd:string) AnnotationAssertion( "CCDS2"^^xsd:string) AnnotationAssertion( "GAMT deficiency"^^xsd:string) AnnotationAssertion( "GAMT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebral creatine deficiency syndrome 2"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome due to GAMT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050799"^^xsd:string) AnnotationAssertion(rdfs:label "guanidinoacetate methyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral creatine deficiency syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17603797"^^xsd:string) Annotation( "https://www.omim.org/entry/300352"^^xsd:string) "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300352"^^xsd:string) AnnotationAssertion( "MESH:C535598"^^xsd:string) AnnotationAssertion( "NCI:C125665"^^xsd:string) AnnotationAssertion( "ORDO:52503"^^xsd:string) AnnotationAssertion( "CCDS1"^^xsd:string) AnnotationAssertion( "Creatine Deficiency, X-Linked"^^xsd:string) AnnotationAssertion( "Creatine Transporter Defect"^^xsd:string) AnnotationAssertion( "SLC6A8 deficiency"^^xsd:string) AnnotationAssertion( "SLC6A8-related creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "X-linked creatine deficiency syndrome"^^xsd:string) AnnotationAssertion( "X-linked creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with creatine transport deficiency"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with seizures, short stature, and midface hypoplasia"^^xsd:string) AnnotationAssertion( "creatine deficiency syndrome 1"^^xsd:string) AnnotationAssertion( "creatine transporter deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050800"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral creatine deficiency syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (androgenic alopecia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/androgenetic-alopecia"^^xsd:string) "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004191"^^xsd:string) AnnotationAssertion( "GARD:9269"^^xsd:string) AnnotationAssertion( "alopecia androgenetica, male pattern baldness"^^xsd:string) AnnotationAssertion( "androgenetic alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050801"^^xsd:string) AnnotationAssertion(rdfs:label "androgenic alopecia"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos syndrome spondylodysplastic type 2) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, progeroid form"^^xsd:string) AnnotationAssertion( "progeroid variant of Ehlers-Danlos syndrome"^^xsd:string) AnnotationAssertion( "MIM:615349"^^xsd:string) AnnotationAssertion( "ORDO:75496"^^xsd:string) AnnotationAssertion( "EDSP2"^^xsd:string) AnnotationAssertion( "EDSSPD2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome progeroid type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, progeroid type, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050802"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glioblastoma classical subtype) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) Annotation( "http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string) "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050803"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma classical subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma proneural subtype) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string) "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050804"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma proneural subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma mesenchymal subtype) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string) "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050805"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma mesenchymal subtype"^^xsd:string) SubClassOf( ) # Class: (glioblastoma neural subtype) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string) "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050806"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma neural subtype"^^xsd:string) SubClassOf( ) # Class: (Kahrizi syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972"^^xsd:string) "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612713"^^xsd:string) AnnotationAssertion( "MESH:C567196"^^xsd:string) AnnotationAssertion( "ORDO:168972"^^xsd:string) AnnotationAssertion( "KHRZ"^^xsd:string) AnnotationAssertion( "intellectual disability, Kahrizi type"^^xsd:string) AnnotationAssertion( "intellectual disability-cataract-coloboma-kyphosis syndrome"^^xsd:string) AnnotationAssertion( "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050807"^^xsd:string) AnnotationAssertion(rdfs:label "Kahrizi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis IX) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601492"^^xsd:string) AnnotationAssertion( "MESH:C563209"^^xsd:string) AnnotationAssertion( "NCI:C129073"^^xsd:string) AnnotationAssertion( "ORDO:67041"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF HYALURONOGLUCOSAMINIDASE"^^xsd:string) AnnotationAssertion( "MPS IX"^^xsd:string) AnnotationAssertion( "MPS9"^^xsd:string) AnnotationAssertion( "hyaluronidase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050809"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis IX"^^xsd:string) SubClassOf( ) # Class: (biotin deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Biotin_deficiency"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK547751/"^^xsd:string) "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531633"^^xsd:string) AnnotationAssertion( "B7 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050810"^^xsd:string) AnnotationAssertion(rdfs:label "biotin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital adrenal hyperplasia) AnnotationAssertion(Annotation( "http://omim.org/entry/201710"^^xsd:string) Annotation( "http://www.genome.jp/dbget-bin/www_bget?ds:H00216"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0"^^xsd:string) "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1465"^^xsd:string) AnnotationAssertion( "GARD:1467"^^xsd:string) AnnotationAssertion( "ICD10CM:E25"^^xsd:string) AnnotationAssertion( "ICD9CM:255.2"^^xsd:string) AnnotationAssertion( "MESH:D000312"^^xsd:string) AnnotationAssertion( "ORDO:418"^^xsd:string) AnnotationAssertion( "adrenal hypoplasia congenita"^^xsd:string) AnnotationAssertion( "congenital adrenal hyperplasias"^^xsd:string) AnnotationAssertion( "congenital lipoid adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "lipoid CAH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050811"^^xsd:string) AnnotationAssertion(rdfs:label "congenital adrenal hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Pakistani type) AnnotationAssertion(Annotation( "http://omim.org/entry/612847"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567552"^^xsd:string) AnnotationAssertion( "MIM:612847"^^xsd:string) AnnotationAssertion( "MESH:C567551"^^xsd:string) AnnotationAssertion( "BCYM4"^^xsd:string) AnnotationAssertion( "SEMD, Pakistani type"^^xsd:string) AnnotationAssertion( "brachyolmia type 4 with mild epiphyseal and metaphyseal changes"^^xsd:string) AnnotationAssertion( "spondylodysplasia and premature pubarche"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050812"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Pakistani type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia with congenital joint dislocations) AnnotationAssertion(Annotation( "http://www.uniprot.org/diseases/DI-01753"^^xsd:string) "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143095"^^xsd:string) AnnotationAssertion( "MESH:C535789"^^xsd:string) AnnotationAssertion( "CDMD"^^xsd:string) AnnotationAssertion( "CHST3-related skeletal dysplasia"^^xsd:string) AnnotationAssertion( "HSD"^^xsd:string) AnnotationAssertion( "Kozlowski Celermajer Tink syndrome"^^xsd:string) AnnotationAssertion( "Omani Type"^^xsd:string) AnnotationAssertion( "Omani type of spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "SED with luxations, CHST3 type"^^xsd:string) AnnotationAssertion( "SED, Omani type"^^xsd:string) AnnotationAssertion( "SEDCJD"^^xsd:string) AnnotationAssertion( "chondrodysplasia with multiple dislocations"^^xsd:string) AnnotationAssertion( "humero-spinal dysostosis"^^xsd:string) AnnotationAssertion( "humero-spinal dysostosis with congenital heart disease"^^xsd:string) AnnotationAssertion( "humerospinal dysostosis"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, CHST3-related"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, Omani type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050813"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia with congenital joint dislocations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (temtamy preaxial brachydactyly syndrome) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417"^^xsd:string) Annotation( "http://www.sciencedirect.com/science/article/pii/S1769721213002449"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21129728"^^xsd:string) "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605282"^^xsd:string) AnnotationAssertion( "GARD:9679"^^xsd:string) AnnotationAssertion( "MESH:C536958"^^xsd:string) AnnotationAssertion( "ORDO:363417"^^xsd:string) AnnotationAssertion( "Preaxial brachydactyly syndrome, Temtamy type"^^xsd:string) AnnotationAssertion( "TPBS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050814"^^xsd:string) AnnotationAssertion(rdfs:label "temtamy preaxial brachydactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urofacial syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urofacial_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/236730"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704"^^xsd:string) "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2781"^^xsd:string) AnnotationAssertion( "MESH:C536480"^^xsd:string) AnnotationAssertion( "MIM:PS236730"^^xsd:string) AnnotationAssertion( "ORDO:2704"^^xsd:string) AnnotationAssertion( "Inverted smile and occult neuropathic bladder"^^xsd:string) AnnotationAssertion( "Ochoa syndrome"^^xsd:string) AnnotationAssertion( "UFS"^^xsd:string) AnnotationAssertion( "hydronephrosis with peculiar facial expression"^^xsd:string) AnnotationAssertion( "hydronephrosis-inverted smile"^^xsd:string) AnnotationAssertion( "inverted smile-neurogenic bladder"^^xsd:string) AnnotationAssertion( "partial facial palsy with urinary abnormalities"^^xsd:string) AnnotationAssertion( "urofacial Ochoa's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050816"^^xsd:string) AnnotationAssertion(rdfs:label "urofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stargardt disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stargardt_disease"^^xsd:string) "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:181"^^xsd:string) AnnotationAssertion( "MESH:D000080362"^^xsd:string) AnnotationAssertion( "NCI:C85078"^^xsd:string) AnnotationAssertion( "ORDO:827"^^xsd:string) AnnotationAssertion( "STGD"^^xsd:string) AnnotationAssertion( "Stargardt macular degeneration"^^xsd:string) AnnotationAssertion( "Stargardt's disease"^^xsd:string) AnnotationAssertion( "juvenile macular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050817"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt disease"^^xsd:string) SubClassOf( ) # Class: (transcobalamin II deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/275350"^^xsd:string) Annotation( "https://www.orpha.net/data/patho/GB/uk-TCII.pdf"^^xsd:string) "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275350"^^xsd:string) AnnotationAssertion( "NCI:C142806"^^xsd:string) AnnotationAssertion( "RDO:0008510"^^xsd:string) AnnotationAssertion( "TC II DEFICIENCY"^^xsd:string) AnnotationAssertion( "TCN2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050818"^^xsd:string) AnnotationAssertion(rdfs:label "transcobalamin II deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (atrioventricular block) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrioventricular_block"^^xsd:string) "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005305"^^xsd:string) AnnotationAssertion( "ICD10CM:I44.3"^^xsd:string) AnnotationAssertion( "ICD9CM:426.10"^^xsd:string) AnnotationAssertion( "MESH:D054537"^^xsd:string) AnnotationAssertion( "NCI:C26703"^^xsd:string) AnnotationAssertion( "AV block"^^xsd:string) AnnotationAssertion( "AV blocks"^^xsd:string) AnnotationAssertion( "Atrioventricular Blocks"^^xsd:string) AnnotationAssertion( "Atrioventricular Conduction Block"^^xsd:string) AnnotationAssertion( "Atrioventricular Conduction Blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AV Block Third Degree Adverse Event"^^xsd:string) AnnotationAssertion( "DOID:0050820"^^xsd:string) AnnotationAssertion(rdfs:label "atrioventricular block"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (first-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/First-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000763"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050821"^^xsd:string) AnnotationAssertion(rdfs:label "first-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (second-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003341"^^xsd:string) AnnotationAssertion( "idiopathic second-degree atrioventricular block"^^xsd:string) AnnotationAssertion( "second-degree heart block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050822"^^xsd:string) AnnotationAssertion(rdfs:label "second-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (third-degree atrioventricular block) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block"^^xsd:string) "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003343"^^xsd:string) AnnotationAssertion( "complete AV block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050823"^^xsd:string) AnnotationAssertion(rdfs:label "third-degree atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (sinoatrial node disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sinoatrial_node"^^xsd:string) "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002665"^^xsd:string) AnnotationAssertion( "SA node"^^xsd:string) AnnotationAssertion( "sinuatrial node"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050824"^^xsd:string) AnnotationAssertion(rdfs:label "sinoatrial node disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocardium disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocardium"^^xsd:string) "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050825"^^xsd:string) AnnotationAssertion(rdfs:label "endocardium disease"^^xsd:string) SubClassOf( ) # Class: (tricuspid valve disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/"^^xsd:string) "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009568"^^xsd:string) AnnotationAssertion( "ICD10CM:I07"^^xsd:string) AnnotationAssertion( "ICD9CM:397.0"^^xsd:string) AnnotationAssertion( "RH. tricuspid valve disease"^^xsd:string) AnnotationAssertion( "disease of tricuspid valve"^^xsd:string) AnnotationAssertion( "rheumatic disease of tricuspid valve"^^xsd:string) AnnotationAssertion( "rheumatic tricuspid valve disease"^^xsd:string) AnnotationAssertion( "tricuspid disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050826"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid valve disease"^^xsd:string) SubClassOf( ) # Class: (rheumatic heart disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rheumatic_heart_disease"^^xsd:string) "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001161"^^xsd:string) AnnotationAssertion( "MESH:D012214"^^xsd:string) AnnotationAssertion( "Bouillaud disease"^^xsd:string) AnnotationAssertion( "Bouillaud's Disease"^^xsd:string) AnnotationAssertion( "Bouillauds Disease"^^xsd:string) AnnotationAssertion( "rheumatic carditis"^^xsd:string) AnnotationAssertion( "rheumatic heart diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050827"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic heart disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (artery disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Artery#Pathology"^^xsd:string) "A vascular disease that is located_in an artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:108000"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050828"^^xsd:string) AnnotationAssertion(rdfs:label "artery disease"^^xsd:string) SubClassOf( ) # Class: (pericardium disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pericardium"^^xsd:string) "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002745"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050829"^^xsd:string) AnnotationAssertion(rdfs:label "pericardium disease"^^xsd:string) SubClassOf( ) # Class: (peripheral artery disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health/health-topics/topics/pad/"^^xsd:string) "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004265"^^xsd:string) AnnotationAssertion( "MESH:D058729"^^xsd:string) AnnotationAssertion( "peripheral arterial disease"^^xsd:string) AnnotationAssertion( "peripheral arterial diseases"^^xsd:string) AnnotationAssertion( "peripheral artery diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050830"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial encephalopathy with neuroserpin inclusion bodies) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies"^^xsd:string) Annotation( "http://www.jbc.org/content/277/19/17367"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport"^^xsd:string) "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604218"^^xsd:string) AnnotationAssertion( "GARD:10037"^^xsd:string) AnnotationAssertion( "MESH:C536841"^^xsd:string) AnnotationAssertion( "FENIB"^^xsd:string) AnnotationAssertion( "familial dementia with neuroserpin inclusion bodies"^^xsd:string) AnnotationAssertion( "familial encephalopathy with Collins bodies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050831"^^xsd:string) AnnotationAssertion(rdfs:label "familial encephalopathy with neuroserpin inclusion bodies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pyrimidine metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pyrimidine_metabolism"^^xsd:string) "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050832"^^xsd:string) AnnotationAssertion(rdfs:label "pyrimidine metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (orotic aciduria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orotic_aciduria"^^xsd:string) Annotation( "http://www.omim.org/entry/258900"^^xsd:string) "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258900"^^xsd:string) AnnotationAssertion( "MESH:C537136"^^xsd:string) AnnotationAssertion( "NCI:C98944"^^xsd:string) AnnotationAssertion( "ORDO:30"^^xsd:string) AnnotationAssertion( "OPRT AND ODC DEFICIENCY"^^xsd:string) AnnotationAssertion( "OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "OROTIC ACIDURIA I"^^xsd:string) AnnotationAssertion( "Orotate phosphoribosyltransferase and omp decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "Oroticaciduria 1"^^xsd:string) AnnotationAssertion( "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "UMP SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "UMPS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Uridine monophosphate synthase deficiency"^^xsd:string) AnnotationAssertion( "hereditary orotic aciduria"^^xsd:string) AnnotationAssertion( "hereditary orotic aciduria, type 1"^^xsd:string) AnnotationAssertion( "uridine monophosphate synthetase deficiency"^^xsd:string) AnnotationAssertion( "OAWA"^^xsd:string) AnnotationAssertion( "UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050833"^^xsd:string) AnnotationAssertion(rdfs:label "orotic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CHARGE syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/CHARGE_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/charge-syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract"^^xsd:string) "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214800"^^xsd:string) AnnotationAssertion( "CHD7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:29"^^xsd:string) AnnotationAssertion( "MESH:D058747"^^xsd:string) AnnotationAssertion( "NCI:C75100"^^xsd:string) AnnotationAssertion( "ORDO:138"^^xsd:string) AnnotationAssertion( "CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies"^^xsd:string) AnnotationAssertion( "CHARGE Associations"^^xsd:string) AnnotationAssertion( "CHARGE Syndromes"^^xsd:string) AnnotationAssertion( "CHARGE association"^^xsd:string) AnnotationAssertion( "HHS"^^xsd:string) AnnotationAssertion( "Hall Hittner syndrome"^^xsd:string) AnnotationAssertion( "familial CHARGE syndrome"^^xsd:string) AnnotationAssertion( "familial CHARGE syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050834"^^xsd:string) AnnotationAssertion(rdfs:label "CHARGE syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (generalized dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that affects most or all of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.2"^^xsd:string) AnnotationAssertion( "ICD9CM:333.6"^^xsd:string) AnnotationAssertion( "ICD9CM:333.8"^^xsd:string) AnnotationAssertion( "NCI:C34564"^^xsd:string) AnnotationAssertion( "NCI:C35437"^^xsd:string) AnnotationAssertion( "NCI:C35438"^^xsd:string) AnnotationAssertion( "NCI:C35527"^^xsd:string) AnnotationAssertion( "fragments of torsion dystonia"^^xsd:string) AnnotationAssertion( "idiopathic familial dystonia"^^xsd:string) AnnotationAssertion( "idiopathic non-familial dystonia"^^xsd:string) AnnotationAssertion( "symptomatic torsion dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050835"^^xsd:string) AnnotationAssertion(rdfs:label "generalized dystonia"^^xsd:string) SubClassOf( ) # Class: (focal dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that is localized to a specific part of the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611284"^^xsd:string) AnnotationAssertion( "GARD:6458"^^xsd:string) AnnotationAssertion( "MESH:C566973"^^xsd:string) AnnotationAssertion( "FTSD"^^xsd:string) AnnotationAssertion( "Musician's Dystonia"^^xsd:string) AnnotationAssertion( "focal dystonia, task-specific"^^xsd:string) AnnotationAssertion( "focal dystonias"^^xsd:string) AnnotationAssertion( "occupational cramp"^^xsd:string) AnnotationAssertion( "occupational dystonia"^^xsd:string) AnnotationAssertion( "task-specific dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050836"^^xsd:string) AnnotationAssertion(rdfs:label "focal dystonia"^^xsd:string) SubClassOf( ) # Class: (multifocal dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that involves two or more unrelated body parts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002844"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050837"^^xsd:string) AnnotationAssertion(rdfs:label "multifocal dystonia"^^xsd:string) SubClassOf( ) # Class: (segmental dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A dystonia that affects two or more adjacent parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050838"^^xsd:string) AnnotationAssertion(rdfs:label "segmental dystonia"^^xsd:string) SubClassOf( ) # Class: (anismus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anismus"^^xsd:string) "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050839"^^xsd:string) AnnotationAssertion(rdfs:label "anismus"^^xsd:string) SubClassOf( ) # Class: (cervical dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spasmodic_torticollis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1155/"^^xsd:string) "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10668"^^xsd:string) AnnotationAssertion( "MESH:D014103"^^xsd:string) AnnotationAssertion( "Psychogenic Torticollis"^^xsd:string) AnnotationAssertion( "Spasmodic Torticollis"^^xsd:string) AnnotationAssertion( "Torticollis"^^xsd:string) AnnotationAssertion( "intermittent torticollis"^^xsd:string) AnnotationAssertion( "wryneck"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050840"^^xsd:string) AnnotationAssertion(rdfs:label "cervical dystonia"^^xsd:string) SubClassOf( ) # Class: (focal hand dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dystonia"^^xsd:string) "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:333.84"^^xsd:string) AnnotationAssertion( "organic writer's cramp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050841"^^xsd:string) AnnotationAssertion(rdfs:label "focal hand dystonia"^^xsd:string) SubClassOf( ) # Class: (oculogyric crisis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oculogyric_crisis"^^xsd:string) "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003198"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050842"^^xsd:string) AnnotationAssertion(rdfs:label "oculogyric crisis"^^xsd:string) SubClassOf( ) # Class: (oromandibular dystonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oromandibular_dystonia"^^xsd:string) "A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050843"^^xsd:string) AnnotationAssertion(rdfs:label "oromandibular dystonia"^^xsd:string) SubClassOf( ) # Class: (spasmodic dystonia) AnnotationAssertion(Annotation( "http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx"^^xsd:string) "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "laryngeal dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050844"^^xsd:string) AnnotationAssertion(rdfs:label "spasmodic dystonia"^^xsd:string) SubClassOf( ) # Class: (cranio-facial dystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003204"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050845"^^xsd:string) AnnotationAssertion(rdfs:label "cranio-facial dystonia"^^xsd:string) SubClassOf( ) # Class: (hemidystonia) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A multifocal dystonia that involves the arm and leg on the same side of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050846"^^xsd:string) AnnotationAssertion(rdfs:label "hemidystonia"^^xsd:string) SubClassOf( ) # Class: (sleep apnea) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/"^^xsd:string) "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003877"^^xsd:string) AnnotationAssertion( "ICD9CM:780.57"^^xsd:string) AnnotationAssertion( "MESH:D012891"^^xsd:string) AnnotationAssertion( "NCI:C26884"^^xsd:string) AnnotationAssertion( "hypersomnia with periodic respiration"^^xsd:string) AnnotationAssertion( "sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "sleep apneas"^^xsd:string) AnnotationAssertion( "sleep disordered breathing"^^xsd:string) AnnotationAssertion( "sleep hypopnea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050847"^^xsd:string) AnnotationAssertion(rdfs:label "sleep apnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (obstructive sleep apnea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Obstructive_sleep_apnea"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1"^^xsd:string) "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107650"^^xsd:string) AnnotationAssertion( "EFO:0003918"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.33"^^xsd:string) AnnotationAssertion( "ICD9CM:327.23"^^xsd:string) AnnotationAssertion( "MESH:D020181"^^xsd:string) AnnotationAssertion( "NCI:C116337"^^xsd:string) AnnotationAssertion( "NCI:C27168"^^xsd:string) AnnotationAssertion( "OSAHS"^^xsd:string) AnnotationAssertion( "Sleep Apnea Hypopnea Syndrome"^^xsd:string) AnnotationAssertion( "obstructive sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "obstructive sleep apneas"^^xsd:string) AnnotationAssertion( "upper airway resistance sleep apnea syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050848"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive sleep apnea"^^xsd:string) SubClassOf( ) # Class: (periampullary adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/"^^xsd:string) "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO)"^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2010-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "periampullary adenoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050849"^^xsd:string) AnnotationAssertion(rdfs:label "periampullary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diabetic encephalopathy) AnnotationAssertion(Annotation( "http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20798963"^^xsd:string) "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO)"^^xsd:string) AnnotationAssertion( "diabetic encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050850"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomerulosclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glomerulosclerosis"^^xsd:string) "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050851"^^xsd:string) AnnotationAssertion(rdfs:label "glomerulosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (limb ischemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ischemia"^^xsd:string) "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050852"^^xsd:string) AnnotationAssertion(rdfs:label "limb ischemia"^^xsd:string) SubClassOf( ) # Class: (chronic venous insufficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chronic_venous_insufficiency"^^xsd:string) "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007940"^^xsd:string) AnnotationAssertion( "RDO:9000012"^^xsd:string) AnnotationAssertion( "Chronic Venous Disease"^^xsd:string) AnnotationAssertion( "Chronic Venous Insufficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050853"^^xsd:string) AnnotationAssertion(rdfs:label "chronic venous insufficiency"^^xsd:string) SubClassOf( ) # Class: (Muckle-Wells syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11687797"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11992256"^^xsd:string) "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8472"^^xsd:string) AnnotationAssertion( "ICD10CM:M04.2"^^xsd:string) AnnotationAssertion( "MIM:191900"^^xsd:string) AnnotationAssertion( "NCI:C119054"^^xsd:string) AnnotationAssertion( "ORDO:575"^^xsd:string) AnnotationAssertion( "CAPS2"^^xsd:string) AnnotationAssertion( "MWS"^^xsd:string) AnnotationAssertion( "UDA syndrome"^^xsd:string) AnnotationAssertion( "cryopyrin-associated periodic syndrome 2"^^xsd:string) AnnotationAssertion( "neutrophilic urticaria"^^xsd:string) AnnotationAssertion( "urticaria-deafness-amyloidosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050854"^^xsd:string) AnnotationAssertion(rdfs:label "Muckle-Wells syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal fibrosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/"^^xsd:string) "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001517"^^xsd:string) AnnotationAssertion( "kidney fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050855"^^xsd:string) AnnotationAssertion(rdfs:label "renal fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oppositional defiant disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oppositional_defiant_disorder"^^xsd:string) "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050856"^^xsd:string) AnnotationAssertion(rdfs:label "oppositional defiant disorder"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Perrault syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/gene/LARS2"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23541340"^^xsd:string) "A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2542"^^xsd:string) AnnotationAssertion( "MIM:PS233400"^^xsd:string) AnnotationAssertion( "ORDO:2855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050857"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marshall-Smith syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1"^^xsd:string) "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602535"^^xsd:string) AnnotationAssertion( "NFIX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6985"^^xsd:string) AnnotationAssertion( "MESH:C536026"^^xsd:string) AnnotationAssertion( "ORDO:561"^^xsd:string) AnnotationAssertion( "MRSHSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050858"^^xsd:string) AnnotationAssertion(rdfs:label "Marshall-Smith syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemorrhagic cystitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemorrhagic_cystitis"^^xsd:string) "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050859"^^xsd:string) AnnotationAssertion(rdfs:label "hemorrhagic cystitis"^^xsd:string) SubClassOf( ) # Class: (colorectal adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string) "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005406"^^xsd:string) AnnotationAssertion( "EFO:1000197"^^xsd:string) AnnotationAssertion( "NCI:C5673"^^xsd:string) AnnotationAssertion( "Colorectal Sessile Serrated Adenoma/Polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "colonic adenoma recurrence, reduced risk of"^^xsd:string) AnnotationAssertion( "DOID:0050860"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colorectal adenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000365"^^xsd:string) AnnotationAssertion( "EFO:0009361"^^xsd:string) AnnotationAssertion( "EFO:1000196"^^xsd:string) AnnotationAssertion( "NCI:C5105"^^xsd:string) AnnotationAssertion( "colorectal mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "colorectal serrated adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050861"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyometritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16284801"^^xsd:string) "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050862"^^xsd:string) AnnotationAssertion(rdfs:label "pyometritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arteritic anterior ischemic optic neuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy"^^xsd:string) "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050863"^^xsd:string) AnnotationAssertion(rdfs:label "arteritic anterior ischemic optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (non-arteritic anterior ischemic optic neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/"^^xsd:string) "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO)"^^xsd:string) AnnotationAssertion( "AION"^^xsd:string) AnnotationAssertion( "MIM:258660"^^xsd:string) AnnotationAssertion( "NAION"^^xsd:string) AnnotationAssertion( "non-arteritic AION"^^xsd:string) AnnotationAssertion( "non-arteritic anterior ischaemic optic neuropathy"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischaemic optic neuropathy"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischemic optic neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NAION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "anterior ischemic optic neuropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "nonarteritic anterior ischemic optic neuropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050864"^^xsd:string) AnnotationAssertion(rdfs:label "non-arteritic anterior ischemic optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (tongue squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string) "A head and neck squamous cell carcinoma that is located_in the tongue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000055"^^xsd:string) AnnotationAssertion( "NCI:C4648"^^xsd:string) AnnotationAssertion( "RDO:9000054"^^xsd:string) AnnotationAssertion( "SCCT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050865"^^xsd:string) AnnotationAssertion(rdfs:label "tongue squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "An oral cavity cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000199"^^xsd:string) AnnotationAssertion( "GARD:7263"^^xsd:string) AnnotationAssertion( "NCI:C132823"^^xsd:string) AnnotationAssertion( "OSCC"^^xsd:string) AnnotationAssertion( "mouth squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050866"^^xsd:string) AnnotationAssertion(rdfs:label "oral squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hepatocellular adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hepatocellular_adenoma"^^xsd:string) "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000762"^^xsd:string) AnnotationAssertion( "MESH:D018248"^^xsd:string) AnnotationAssertion( "Benign Hepatoma"^^xsd:string) AnnotationAssertion( "benign hepatomas"^^xsd:string) AnnotationAssertion( "hepatocellular adenomas"^^xsd:string) AnnotationAssertion( "liver cell adenoma"^^xsd:string) AnnotationAssertion( "liver cell adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050868"^^xsd:string) AnnotationAssertion(rdfs:label "hepatocellular adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (villous adenoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma"^^xsd:string) "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8261/0"^^xsd:string) AnnotationAssertion( "MESH:D018253"^^xsd:string) AnnotationAssertion( "villous adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050869"^^xsd:string) AnnotationAssertion(rdfs:label "villous adenoma"^^xsd:string) SubClassOf( ) # Class: (pulmonary adenocarcinoma in situ) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma"^^xsd:string) "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050870"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary adenocarcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibroma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibroma"^^xsd:string) "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000497"^^xsd:string) AnnotationAssertion( "EFO:0002424"^^xsd:string) AnnotationAssertion( "EFO:1000148"^^xsd:string) AnnotationAssertion( "EFO:1000556"^^xsd:string) AnnotationAssertion( "ICDO:8810/0"^^xsd:string) AnnotationAssertion( "MESH:D005350"^^xsd:string) AnnotationAssertion( "Fibromyxoma"^^xsd:string) AnnotationAssertion( "fibromas"^^xsd:string) AnnotationAssertion( "fibromatoses"^^xsd:string) AnnotationAssertion( "fibromatosis"^^xsd:string) AnnotationAssertion( "fibromyxomas"^^xsd:string) AnnotationAssertion( "myxofibroma"^^xsd:string) AnnotationAssertion( "myxofibromas"^^xsd:string) AnnotationAssertion( "Superficial Fibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050871"^^xsd:string) AnnotationAssertion(rdfs:label "fibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large cell neuroendocrine carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15999058"^^xsd:string) "A lung large cell carcinoma that derives_from neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000563"^^xsd:string) AnnotationAssertion( "ICDO:8013/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050872"^^xsd:string) AnnotationAssertion(rdfs:label "large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (follicular lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Follicular_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=428287"^^xsd:string) "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO)"^^xsd:string) AnnotationAssertion( "MIM:613024"^^xsd:string) AnnotationAssertion( "EFO:1000211"^^xsd:string) AnnotationAssertion( "GARD:2356"^^xsd:string) AnnotationAssertion( "ICDO:9690/3"^^xsd:string) AnnotationAssertion( "MESH:D008224"^^xsd:string) AnnotationAssertion( "MONDO:0018906"^^xsd:string) AnnotationAssertion( "NCI:C3209"^^xsd:string) AnnotationAssertion( "NCI:C3465"^^xsd:string) AnnotationAssertion( "Brill Symmers Disease"^^xsd:string) AnnotationAssertion( "FL1"^^xsd:string) AnnotationAssertion( "Follicular Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 1"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 2"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Grade 3"^^xsd:string) AnnotationAssertion( "Follicular Lymphoma, Somatic"^^xsd:string) AnnotationAssertion( "Follicular Lymphomas"^^xsd:string) AnnotationAssertion( "Follicular Mixed Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Follicular Mixed-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "Giant Follicular Lymphoma"^^xsd:string) AnnotationAssertion( "Giant Follicular Lymphomas"^^xsd:string) AnnotationAssertion( "Large Lymphoid Lymphoma, Nodular"^^xsd:string) AnnotationAssertion( "Lymphocytic Lymphoma, Nodular, Poorly Differentiated"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Mixed Small and Large Lymphoid"^^xsd:string) AnnotationAssertion( "Lymphoma, Follicular, Small and Large Cleaved Cell"^^xsd:string) AnnotationAssertion( "Lymphoma, Nodular, Mixed Lymphocytic Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Nodular, Mixed Small and Large Cell"^^xsd:string) AnnotationAssertion( "Lymphoma, Small Lymphoid, Follicular"^^xsd:string) AnnotationAssertion( "Nodular Histiocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Histiocytic Lymphomas"^^xsd:string) AnnotationAssertion( "Nodular Large Follicular Center Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Lymphoma"^^xsd:string) AnnotationAssertion( "Nodular Lymphomas"^^xsd:string) AnnotationAssertion( "follicular large-cell lymphomas"^^xsd:string) AnnotationAssertion( "follicular small cleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small follicular center cell lymphoma"^^xsd:string) AnnotationAssertion( "Cutaneous Follicular Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:0050873"^^xsd:string) AnnotationAssertion(rdfs:label "follicular lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Caroli disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Caroli_disease"^^xsd:string) Annotation( "http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract"^^xsd:string) "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001286"^^xsd:string) AnnotationAssertion( "GARD:6002"^^xsd:string) AnnotationAssertion( "MESH:D016767"^^xsd:string) AnnotationAssertion( "NCI:C84619"^^xsd:string) AnnotationAssertion( "Caroli's disease"^^xsd:string) AnnotationAssertion( "Carolis Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050876"^^xsd:string) AnnotationAssertion(rdfs:label "Caroli disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic agenesis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf"^^xsd:string) "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS260370"^^xsd:string) AnnotationAssertion( "GARD:4203"^^xsd:string) AnnotationAssertion( "MESH:C564908"^^xsd:string) AnnotationAssertion( "ORDO:2805"^^xsd:string) AnnotationAssertion( "PAGEN"^^xsd:string) AnnotationAssertion( "PANCREATIC HYPOPLASIA"^^xsd:string) AnnotationAssertion( "congenital pancreatic agenesis"^^xsd:string) AnnotationAssertion( "congenital pancreatic hypoplasia"^^xsd:string) AnnotationAssertion( "partial pancreatic agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050877"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic agenesis"^^xsd:string) SubClassOf( ) # Class: (fragile X-associated tremor/ataxia syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/300623"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18195136"^^xsd:string) "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300623"^^xsd:string) AnnotationAssertion( "MESH:C564105"^^xsd:string) AnnotationAssertion( "NCI:C126566"^^xsd:string) AnnotationAssertion( "ORDO:93256"^^xsd:string) AnnotationAssertion( "FXTAS"^^xsd:string) AnnotationAssertion( "FXTAS syndrome"^^xsd:string) AnnotationAssertion( "Fragile X Tremor Ataxia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050879"^^xsd:string) AnnotationAssertion(rdfs:label "fragile X-associated tremor/ataxia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Koolen de Vries syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome"^^xsd:string) Annotation( "http://omim.org/entry/610443"^^xsd:string) Annotation( "http://www.17q21.com/en/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK24676/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19447831"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22544363"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22544367"^^xsd:string) "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070076"^^xsd:string) AnnotationAssertion( "MIM:610443"^^xsd:string) AnnotationAssertion( "RDO:0014820"^^xsd:string) AnnotationAssertion( "GARD:10727"^^xsd:string) AnnotationAssertion( "MESH:C566476"^^xsd:string) AnnotationAssertion( "ORDO:96169"^^xsd:string) AnnotationAssertion( "17q21.31 deletion syndrome"^^xsd:string) AnnotationAssertion( "17q21.31 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17q21.31 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17q21.31 Microdeletion Syndrome"^^xsd:string) AnnotationAssertion( "KANSL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KANSL1-related intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "KDVS"^^xsd:string) AnnotationAssertion( "Koolen syndrome"^^xsd:string) AnnotationAssertion( "monosomy 17q21.31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050880"^^xsd:string) AnnotationAssertion(rdfs:label "Koolen de Vries syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy with Paget disease of bone and frontotemporal dementia) AnnotationAssertion(Annotation( "http://omim.org/entry/167320"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19380227"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21304887"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21892620"^^xsd:string) "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563476"^^xsd:string) AnnotationAssertion( "MIM:PS167320"^^xsd:string) AnnotationAssertion( "ORDO:52430"^^xsd:string) AnnotationAssertion( "IBMPFD"^^xsd:string) AnnotationAssertion( "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA"^^xsd:string) AnnotationAssertion( "Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia"^^xsd:string) AnnotationAssertion( "Lower Motor Neuron Degeneration With Paget-Like Bone Disease"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone"^^xsd:string) AnnotationAssertion( "Pagetoid Amyotrophic Lateral Sclerosis"^^xsd:string) AnnotationAssertion( "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia"^^xsd:string) AnnotationAssertion( "inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia"^^xsd:string) AnnotationAssertion( "pagetoid neuroskeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050881"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 5) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20368622"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "SPTBN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4953"^^xsd:string) AnnotationAssertion( "MIM:600224"^^xsd:string) AnnotationAssertion( "SCA5"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050882"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 5"^^xsd:string) SubClassOf( ) # Class: (infantile cerebellar-retinal degeneration) AnnotationAssertion(Annotation( "http://omim.org/entry/614559"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850"^^xsd:string) Annotation( "http://www.uniprot.org/diseases/DI-03409"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22405087"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23438437"^^xsd:string) "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)"^^xsd:string) AnnotationAssertion( "ACO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACO2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:13264"^^xsd:string) AnnotationAssertion( "MIM:614559"^^xsd:string) AnnotationAssertion( "ICRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050883"^^xsd:string) AnnotationAssertion(rdfs:label "infantile cerebellar-retinal degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (triosephosphate isomerase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency"^^xsd:string) Annotation( "http://omim.org/entry/615512"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16980388"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17424909"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23318931"^^xsd:string) "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615512"^^xsd:string) AnnotationAssertion( "GARD:5287"^^xsd:string) AnnotationAssertion( "MESH:C566029"^^xsd:string) AnnotationAssertion( "NCI:C131652"^^xsd:string) AnnotationAssertion( "TPID"^^xsd:string) AnnotationAssertion( "triose phosphate-isomerase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TPI-Hungary"^^xsd:string) AnnotationAssertion( "DOID:0050884"^^xsd:string) AnnotationAssertion(rdfs:label "triosephosphate isomerase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IMAGe syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/614732"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14760276"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22634751"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23719190"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24065356"^^xsd:string) "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202155"^^xsd:string) AnnotationAssertion( "MIM:614732"^^xsd:string) AnnotationAssertion( "GARD:12312"^^xsd:string) AnnotationAssertion( "MESH:C564543"^^xsd:string) AnnotationAssertion( "Adrenal Hypoplasia, Cytomegalic Type"^^xsd:string) AnnotationAssertion( "IMAGE"^^xsd:string) AnnotationAssertion( "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities"^^xsd:string) AnnotationAssertion( "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050885"^^xsd:string) AnnotationAssertion(rdfs:label "IMAGe syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Troyer syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/SPG20"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/troyer-syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/SPG20"^^xsd:string) Annotation( "http://omim.org/entry/275900"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301556"^^xsd:string) "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275900"^^xsd:string) AnnotationAssertion( "GARD:5372"^^xsd:string) AnnotationAssertion( "MESH:C536858"^^xsd:string) AnnotationAssertion( "ORDO:101000"^^xsd:string) AnnotationAssertion( "Cross-McKusick syndrome"^^xsd:string) AnnotationAssertion( "SPART-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPG20"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia Troyer type"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 20"^^xsd:string) AnnotationAssertion( "childhood-onset spastic paraparesis with distal muscle wasting"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 20"^^xsd:string) AnnotationAssertion( "spastic paraplegia with distal muscle wasting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050886"^^xsd:string) AnnotationAssertion(rdfs:label "Troyer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Townes-Brocks syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome"^^xsd:string) Annotation( "http://www.omim.org/entry/107480"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12925729"^^xsd:string) "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107480"^^xsd:string) AnnotationAssertion( "GARD:7784"^^xsd:string) AnnotationAssertion( "MESH:C536974"^^xsd:string) AnnotationAssertion( "MIM:PS107480"^^xsd:string) AnnotationAssertion( "Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome"^^xsd:string) AnnotationAssertion( "REAR syndrome"^^xsd:string) AnnotationAssertion( "SALL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TBS1"^^xsd:string) AnnotationAssertion( "Townes Syndrome"^^xsd:string) AnnotationAssertion( "Townes-Brocks syndrome 1"^^xsd:string) AnnotationAssertion( "anal-ear-renal-radial malformation syndrome"^^xsd:string) AnnotationAssertion( "imperforate anus with hand, foot, and ear anomalies"^^xsd:string) AnnotationAssertion( "imperforate anus-hand and foot anomalies syndrome"^^xsd:string) AnnotationAssertion( "renal-ear-anal-radial syndrome"^^xsd:string) AnnotationAssertion( "renal-ear-anal-radial syndrome (rear)"^^xsd:string) AnnotationAssertion( "sensorineural deafness with imperforate anus and hypoplastic thumbs"^^xsd:string) AnnotationAssertion( "sensorineural deafness with imperforate anus and thumb anomalies"^^xsd:string) AnnotationAssertion( "sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Townes-Brocks-branchiootorenal-like syndrome"^^xsd:string) AnnotationAssertion( "DOID:0050887"^^xsd:string) AnnotationAssertion(rdfs:label "Townes-Brocks syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string) "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050888"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic intellectual disability"^^xsd:string) SubClassOf( ) # Class: (non-syndromic intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/"^^xsd:string) "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050889"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic intellectual disability"^^xsd:string) SubClassOf( ) # Class: (synucleinopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Synucleinopathies"^^xsd:string) "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000080874"^^xsd:string) AnnotationAssertion( "MONDO:0000510"^^xsd:string) AnnotationAssertion( "α-synucleinopathy"^^xsd:string) AnnotationAssertion( "a-synucleinopathies"^^xsd:string) AnnotationAssertion( "a-synucleinopathy"^^xsd:string) AnnotationAssertion( "alpha synuclein pathologies"^^xsd:string) AnnotationAssertion( "alpha synuclein pathology"^^xsd:string) AnnotationAssertion( "alpha synucleinopathies"^^xsd:string) AnnotationAssertion( "alpha-synucleinopathy"^^xsd:string) AnnotationAssertion( "synucleinopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050890"^^xsd:string) AnnotationAssertion(rdfs:label "synucleinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal cortical adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenocortical_adenoma"^^xsd:string) "An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003104"^^xsd:string) AnnotationAssertion( "EFO:1000208"^^xsd:string) AnnotationAssertion( "EFO:1000399"^^xsd:string) AnnotationAssertion( "EFO:1000523"^^xsd:string) AnnotationAssertion( "ICDO:8370/0"^^xsd:string) AnnotationAssertion( "MESH:D018246"^^xsd:string) AnnotationAssertion( "NCI:C9003"^^xsd:string) AnnotationAssertion( "Conn Adenoma"^^xsd:string) AnnotationAssertion( "Conn adenomas"^^xsd:string) AnnotationAssertion( "Conn disease"^^xsd:string) AnnotationAssertion( "Conn's disease"^^xsd:string) AnnotationAssertion( "Conns disease"^^xsd:string) AnnotationAssertion( "adrenal cortical adenomas"^^xsd:string) AnnotationAssertion( "adrenocortical adenoma"^^xsd:string) AnnotationAssertion( "adrenocortical adenomas"^^xsd:string) AnnotationAssertion( "Aldosterone Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Cortisol-Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Non-Functioning Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "Sex Hormone-Producing Adrenal Cortex Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050891"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortical adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal gland pheochromocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/pheochromocytoma"^^xsd:string) "A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-06T17:14:16Z"^^xsd:string) AnnotationAssertion( "EFO:0000239"^^xsd:string) AnnotationAssertion( "EFO:1000348"^^xsd:string) AnnotationAssertion( "NCI:C121568"^^xsd:string) AnnotationAssertion( "NCI:C134960"^^xsd:string) AnnotationAssertion( "NCI:C3326"^^xsd:string) AnnotationAssertion( "Malignant Adrenal Gland Pheochromocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050892"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050893"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ameloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000487"^^xsd:string) AnnotationAssertion( "GARD:5747"^^xsd:string) AnnotationAssertion( "ICDO:9310/0"^^xsd:string) AnnotationAssertion( "MESH:D000564"^^xsd:string) AnnotationAssertion( "MONDO:0017795"^^xsd:string) AnnotationAssertion( "NCI:C4313"^^xsd:string) AnnotationAssertion( "ORDO:314419"^^xsd:string) AnnotationAssertion( "ameloblastomas"^^xsd:string) AnnotationAssertion( "plexiform ameloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050894"^^xsd:string) AnnotationAssertion(rdfs:label "ameloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bone ameloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ameloblastoma"^^xsd:string) "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050895"^^xsd:string) AnnotationAssertion(rdfs:label "bone ameloblastoma"^^xsd:string) SubClassOf( ) # Class: (bone squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A bone carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050896"^^xsd:string) AnnotationAssertion(rdfs:label "bone squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone chondrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string) "A chondrosarcoma that is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050897"^^xsd:string) AnnotationAssertion(rdfs:label "bone chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (phalanx chondroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondroma"^^xsd:string) "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004367"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050898"^^xsd:string) AnnotationAssertion(rdfs:label "phalanx chondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain stem medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) "A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050899"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sacrum chordoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sacrum"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45297"^^xsd:string) "A spinal chordoma that is located_in the sacrum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C129927"^^xsd:string) AnnotationAssertion( "sacral chordoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050900"^^xsd:string) AnnotationAssertion(rdfs:label "sacrum chordoma"^^xsd:string) SubClassOf( ) # Class: (corpus callosum oligodendroglioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Corpus_callosum"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Oligodendroglioma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46257"^^xsd:string) "A brain oligodendroglioma located_in the corpus callosum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050901"^^xsd:string) AnnotationAssertion(rdfs:label "corpus callosum oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45780"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/"^^xsd:string) "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155255"^^xsd:string) AnnotationAssertion( "PTCH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0002939"^^xsd:string) AnnotationAssertion( "GARD:7005"^^xsd:string) AnnotationAssertion( "ICDO:9470/3"^^xsd:string) AnnotationAssertion( "MESH:D008527"^^xsd:string) AnnotationAssertion( "NCI:C27294"^^xsd:string) AnnotationAssertion( "NCI:C3222"^^xsd:string) AnnotationAssertion( "NCI:C3716"^^xsd:string) AnnotationAssertion( "ORDO:616"^^xsd:string) AnnotationAssertion( "CNS PNET"^^xsd:string) AnnotationAssertion( "CPNET"^^xsd:string) AnnotationAssertion( "MDB"^^xsd:string) AnnotationAssertion( "Medulloblastoma, histologically defined"^^xsd:string) AnnotationAssertion( "brain medulloblastoma"^^xsd:string) AnnotationAssertion( "circumscribed arachnoidal cerebellar sarcoma"^^xsd:string) AnnotationAssertion( "desmoplastic medulloblastoma"^^xsd:string) AnnotationAssertion( "desmoplastic medulloblastomas"^^xsd:string) AnnotationAssertion( "infratentorial primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "localized primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "medulloblastoma predisposition syndrome"^^xsd:string) AnnotationAssertion( "medulloblastomas"^^xsd:string) AnnotationAssertion( "melanocytic medulloblastoma"^^xsd:string) AnnotationAssertion( "melanocytic medulloblastomas"^^xsd:string) AnnotationAssertion( "CLASSIC MEDULLOBLASTOMA"^^xsd:string) AnnotationAssertion( "MBEN"^^xsd:string) AnnotationAssertion( "medulloblastoma with extensive nodularity"^^xsd:string) AnnotationAssertion( "medulloblastoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050902"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parietal lobe ependymoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46432"^^xsd:string) "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050903"^^xsd:string) AnnotationAssertion(rdfs:label "parietal lobe ependymoma"^^xsd:string) SubClassOf( ) # Class: (salivary gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Salivary_gland_neoplasm"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string) "A salivary gland cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000344"^^xsd:string) AnnotationAssertion( "EFO:1000379"^^xsd:string) AnnotationAssertion( "EFO:1000514"^^xsd:string) AnnotationAssertion( "EFO:1000516"^^xsd:string) AnnotationAssertion( "EFO:1000517"^^xsd:string) AnnotationAssertion( "EFO:1001967"^^xsd:string) AnnotationAssertion( "Major Salivary Gland Carcinoma"^^xsd:string) AnnotationAssertion( "Minor Salivary Gland Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Adenosquamous Carcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Basal Cell Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Large Cell Carcinoma"^^xsd:string) AnnotationAssertion( "salivary gland squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050904"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory myofibroblastic tumor) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23091756"^^xsd:string) "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000127"^^xsd:string) AnnotationAssertion( "EFO:1000333"^^xsd:string) AnnotationAssertion( "EFO:1000510"^^xsd:string) AnnotationAssertion( "GARD:7146"^^xsd:string) AnnotationAssertion( "myofibroblastic tumor"^^xsd:string) AnnotationAssertion( "Bladder Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "Lung Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "Retroperitoneal Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050905"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory myofibroblastic tumor"^^xsd:string) SubClassOf( ) # Class: (conjunctival nevus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conjunctiva"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors"^^xsd:string) "A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000205"^^xsd:string) AnnotationAssertion( "RDO:9002409"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050906"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival nevus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed extragonadal germ cell cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=444993"^^xsd:string) "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000524"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050907"^^xsd:string) AnnotationAssertion(rdfs:label "mixed extragonadal germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myelodysplastic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myelodysplastic_syndrome"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45266"^^xsd:string) "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614286"^^xsd:string) AnnotationAssertion( "ASXL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TET2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0000198"^^xsd:string) AnnotationAssertion( "GARD:7132"^^xsd:string) AnnotationAssertion( "ICDO:9989/3"^^xsd:string) AnnotationAssertion( "MESH:D009190"^^xsd:string) AnnotationAssertion( "NCI:C3247"^^xsd:string) AnnotationAssertion( "MDS"^^xsd:string) AnnotationAssertion( "dysmyelopoietic syndrome"^^xsd:string) AnnotationAssertion( "dysmyelopoietic syndromes"^^xsd:string) AnnotationAssertion( "hematopoetic myelodysplasia"^^xsd:string) AnnotationAssertion( "hematopoetic myelodysplasias"^^xsd:string) AnnotationAssertion( "myelodysplastic syndromes"^^xsd:string) AnnotationAssertion( "myelodysplasia"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome progressed to acute myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0050908"^^xsd:string) AnnotationAssertion(rdfs:label "myelodysplastic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45774"^^xsd:string) Annotation( "http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt"^^xsd:string) "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000191"^^xsd:string) AnnotationAssertion( "EFO:1000146"^^xsd:string) AnnotationAssertion( "EFO:1000537"^^xsd:string) AnnotationAssertion( "EFO:1000591"^^xsd:string) AnnotationAssertion( "ICDO:9699/3"^^xsd:string) AnnotationAssertion( "MIM:137245"^^xsd:string) AnnotationAssertion( "NCI:C3898"^^xsd:string) AnnotationAssertion( "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE"^^xsd:string) AnnotationAssertion( "Lymphoma of Mucosa Associated Lymphoid Tissue"^^xsd:string) AnnotationAssertion( "MALT lymphoma"^^xsd:string) AnnotationAssertion( "MALT lymphoma of the dura"^^xsd:string) AnnotationAssertion( "mucosa associated lymphoid tissue lymphoma"^^xsd:string) AnnotationAssertion( "Breast Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050909"^^xsd:string) AnnotationAssertion(rdfs:label "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue"^^xsd:string) SubClassOf( ) # Class: (cecum adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000155"^^xsd:string) AnnotationAssertion( "caecum adenoma"^^xsd:string) AnnotationAssertion( "Cecum Villous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050910"^^xsd:string) AnnotationAssertion(rdfs:label "cecum adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (appendix carcinoid tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44233"^^xsd:string) "An appendix cancer that has_material_basis_in neurodendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000090"^^xsd:string) AnnotationAssertion( "EFO:1000092"^^xsd:string) AnnotationAssertion( "appendix carcinoid endocrine tumour"^^xsd:string) AnnotationAssertion( "Appendix Goblet Cell Carcinoid"^^xsd:string) AnnotationAssertion( "Appendix Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050911"^^xsd:string) AnnotationAssertion(rdfs:label "appendix carcinoid tumor"^^xsd:string) SubClassOf( ) # Class: (colon adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Colorectal_adenoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46217"^^xsd:string) "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050912"^^xsd:string) AnnotationAssertion(rdfs:label "colon adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large intestine adenocarcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string) "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001839"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050913"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large intestine adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050914"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectal adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000503"^^xsd:string) AnnotationAssertion( "EFO:1000504"^^xsd:string) AnnotationAssertion( "EFO:1000505"^^xsd:string) AnnotationAssertion( "EFO:1000506"^^xsd:string) AnnotationAssertion( "NCI:C5546"^^xsd:string) AnnotationAssertion( "rectum adenoma"^^xsd:string) AnnotationAssertion( "Rectal Tubulovillous Adenoma"^^xsd:string) AnnotationAssertion( "rectal traditional serrated adenoma"^^xsd:string) AnnotationAssertion( "rectal tubular adenoma"^^xsd:string) AnnotationAssertion( "rectal villous adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050915"^^xsd:string) AnnotationAssertion(rdfs:label "rectal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchus mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A mucoepidermoid carcinoma located_in the bronchus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050916"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung combined type small cell adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45327"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46216"^^xsd:string) "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050917"^^xsd:string) AnnotationAssertion(rdfs:label "lung combined type small cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A vaginal cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000617"^^xsd:string) AnnotationAssertion( "EFO:1000620"^^xsd:string) AnnotationAssertion( "Vaginal Adenoid Cystic Carcinoma"^^xsd:string) AnnotationAssertion( "Vaginal Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050918"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A mucoepidermoid carcinoma located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050919"^^xsd:string) AnnotationAssertion(rdfs:label "trachea mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tonsil squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A tonsil cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002338"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050920"^^xsd:string) AnnotationAssertion(rdfs:label "tonsil squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pharynx squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A pharynx cancer that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001965"^^xsd:string) AnnotationAssertion( "NCI:C102872"^^xsd:string) AnnotationAssertion( "RDO:9002336"^^xsd:string) AnnotationAssertion( "pharyngeal squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050921"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000218"^^xsd:string) AnnotationAssertion( "RDO:9004722"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050922"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle epithelial tumor with thymus-like differentiation tumor) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/thyroidsettle.html"^^xsd:string) Annotation( "http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19417583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2050369"^^xsd:string) "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000593"^^xsd:string) AnnotationAssertion( "SETTLE tumor"^^xsd:string) AnnotationAssertion( "SETTLE tumour"^^xsd:string) AnnotationAssertion( "spindle epithelial tumour with thymus-like differentiation tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050923"^^xsd:string) AnnotationAssertion(rdfs:label "spindle epithelial tumor with thymus-like differentiation tumor"^^xsd:string) SubClassOf( ) # Class: (striated muscle rhabdoid tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46139"^^xsd:string) "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050924"^^xsd:string) AnnotationAssertion(rdfs:label "striated muscle rhabdoid tumor"^^xsd:string) SubClassOf( ) # Class: (small intestine carcinoid neuroendocrine tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoid"^^xsd:string) "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "intestinal carcinoid tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050925"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine carcinoid neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (jejunal adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050926"^^xsd:string) AnnotationAssertion(rdfs:label "jejunal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenum adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000225"^^xsd:string) AnnotationAssertion( "Duodenal Villous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050927"^^xsd:string) AnnotationAssertion(rdfs:label "duodenum adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian melanoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Melanoma"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15166669"^^xsd:string) "An ovarian cancer that has_material_basis_in melanoctyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050928"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian melanoma"^^xsd:string) SubClassOf( ) # Class: (mucosal melanoma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic"^^xsd:string) "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C114828"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050929"^^xsd:string) AnnotationAssertion(rdfs:label "mucosal melanoma"^^xsd:string) SubClassOf( ) # Class: (sublingual gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050930"^^xsd:string) AnnotationAssertion(rdfs:label "sublingual gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (parotid gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Parotid_gland"^^xsd:string) "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000459"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050931"^^xsd:string) AnnotationAssertion(rdfs:label "parotid gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006740"^^xsd:string) AnnotationAssertion( "EFO:1000038"^^xsd:string) AnnotationAssertion( "NCI:C45544"^^xsd:string) AnnotationAssertion( "RDO:9001989"^^xsd:string) AnnotationAssertion( "pulmonary mucoepidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050932"^^xsd:string) AnnotationAssertion(rdfs:label "lung mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian serous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Serous_carcinoma"^^xsd:string) "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050933"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian serous carcinoma"^^xsd:string) SubClassOf( ) # Class: (ovarian clear cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma"^^xsd:string) "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050934"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (cervical neuroblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string) Annotation( "http://link.springer.com/article/10.1007%2Fs12070-007-0083-5"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15390353"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9262064"^^xsd:string) "An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050935"^^xsd:string) AnnotationAssertion(rdfs:label "cervical neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (extra-adrenal pheochromocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pheochromocytoma"^^xsd:string) "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000349"^^xsd:string) AnnotationAssertion( "Malignant Bladder Paraganglioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050936"^^xsd:string) AnnotationAssertion(rdfs:label "extra-adrenal pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (retroperitoneal neuroblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string) Annotation( "http://en.wiktionary.org/wiki/retroperitoneal"^^xsd:string) "A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050937"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (breast lobular carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/breastlobular"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=426416"^^xsd:string) "A breast carcinoma that derives_from breast lobules (milk glands). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000570"^^xsd:string) AnnotationAssertion( "EFO:0008509"^^xsd:string) AnnotationAssertion( "ICDO:8520/3"^^xsd:string) AnnotationAssertion( "MESH:D018275"^^xsd:string) AnnotationAssertion( "NCI:C3771"^^xsd:string) AnnotationAssertion( "lobular carcinoma"^^xsd:string) AnnotationAssertion( "lobular carcinoma of breast"^^xsd:string) AnnotationAssertion( "lobular carcinoma of the breast"^^xsd:string) AnnotationAssertion( "lobular carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050938"^^xsd:string) AnnotationAssertion(rdfs:label "breast lobular carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus endometrial carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/"^^xsd:string) "A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050939"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus endometrial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocervical adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12207781"^^xsd:string) "An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050940"^^xsd:string) AnnotationAssertion(rdfs:label "endocervical adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17273843"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611302"^^xsd:string) AnnotationAssertion( "MESH:C566969"^^xsd:string) AnnotationAssertion( "NCI:C177252"^^xsd:string) AnnotationAssertion( "SPAX2"^^xsd:string) AnnotationAssertion( "spastic ataxia 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050941"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22448145"^^xsd:string) Annotation( "https://www.omim.org/entry/611390"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611390"^^xsd:string) AnnotationAssertion( "MESH:C566956"^^xsd:string) AnnotationAssertion( "ARSAL"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE SPASTIC ATAXIA"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "SPAX3"^^xsd:string) AnnotationAssertion( "spastic ataxia 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050942"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20970105"^^xsd:string) Annotation( "https://www.omim.org/entry/613672"^^xsd:string) "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613672"^^xsd:string) AnnotationAssertion( "MTPAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPAX4"^^xsd:string) AnnotationAssertion( "spastic ataxia 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050943"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22022284"^^xsd:string) Annotation( "https://www.omim.org/entry/614487"^^xsd:string) "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614487"^^xsd:string) AnnotationAssertion( "SPAX5"^^xsd:string) AnnotationAssertion( "spastic ataxia 5, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050944"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6821680"^^xsd:string) Annotation( "https://www.omim.org/entry/108650"^^xsd:string) "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000811"^^xsd:string) AnnotationAssertion( "MESH:C566247"^^xsd:string) AnnotationAssertion( "MIM:108650"^^xsd:string) AnnotationAssertion( "SPAX7"^^xsd:string) AnnotationAssertion( "spastic ataxia 7, autosomal dominant"^^xsd:string) AnnotationAssertion( "spastic ataxia with congenital miosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050945"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charlevoix-Saguenay spastic ataxia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24384335"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26344561"^^xsd:string) Annotation( "https://www.omim.org/entry/270550"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270550"^^xsd:string) AnnotationAssertion( "RDO:0002476"^^xsd:string) AnnotationAssertion( "GARD:4910"^^xsd:string) AnnotationAssertion( "MESH:C536787"^^xsd:string) AnnotationAssertion( "NCI:C154614"^^xsd:string) AnnotationAssertion( "ARSACS"^^xsd:string) AnnotationAssertion( "SACS"^^xsd:string) AnnotationAssertion( "SACS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPAX6"^^xsd:string) AnnotationAssertion( "Spastic Ataxia Charlevoix-Saguenay Type"^^xsd:string) AnnotationAssertion( "Spastic ataxia 6, autosomal recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic ataxia of Charlevoix-Saguenay"^^xsd:string) AnnotationAssertion( "spastic ataxia of Charlevoix-Saguenay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050946"^^xsd:string) AnnotationAssertion(rdfs:label "Charlevoix-Saguenay spastic ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary hypophosphatemic rickets with hypercalciuria) AnnotationAssertion(Annotation( "http://www.omim.org/entry/241530?search=241530&highlight=241530"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple"^^xsd:string) "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241530"^^xsd:string) AnnotationAssertion( "MESH:C562793"^^xsd:string) AnnotationAssertion( "HHRH"^^xsd:string) AnnotationAssertion( "SLC34A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hypercalciuric rickets"^^xsd:string) AnnotationAssertion( "hypophosphatemic rickets with hypercalciuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050947"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary hypophosphatemic rickets with hypercalciuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant hypophosphatemic rickets) AnnotationAssertion(Annotation( "http://www.omim.org/entry/193100?search=193100&highlight=193100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26365554"^^xsd:string) "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193100"^^xsd:string) AnnotationAssertion( "MESH:C562791"^^xsd:string) AnnotationAssertion( "ADHR"^^xsd:string) AnnotationAssertion( "autosomal dominant hypophosphatemia"^^xsd:string) AnnotationAssertion( "hypophosphatemic rickets, dominant"^^xsd:string) AnnotationAssertion( "vitamin D-resistant rickets, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050948"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive hypophosphatemic rickets) AnnotationAssertion(Annotation( "http://www.omim.org/entry/241520?search=241520&highlight=241520"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple"^^xsd:string) "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:289176"^^xsd:string) AnnotationAssertion( "recessive hypophosphatemic rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050949"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cerebellar ataxia) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string) "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS213200"^^xsd:string) AnnotationAssertion( "ORDO:1172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050950"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cerebellar ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary ataxia) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138"^^xsd:string) "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009671"^^xsd:string) AnnotationAssertion( "GARD:6614"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050951"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24384335"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26344561"^^xsd:string) Annotation( "https://www.omim.org/entry/270550"^^xsd:string) "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564815"^^xsd:string) AnnotationAssertion( "MIM:PS108600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050952"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked hereditary ataxia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string) "A hereditary ataxia that is characterized by X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050953"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked hereditary ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003089"^^xsd:string) AnnotationAssertion( "GARD:4071"^^xsd:string) AnnotationAssertion( "MIM:164400"^^xsd:string) AnnotationAssertion( "MONDO:0008119"^^xsd:string) AnnotationAssertion( "NCI:C129982"^^xsd:string) AnnotationAssertion( "CPD1"^^xsd:string) AnnotationAssertion( "Menzel type OPCA"^^xsd:string) AnnotationAssertion( "OPCA I"^^xsd:string) AnnotationAssertion( "OPCA IV"^^xsd:string) AnnotationAssertion( "OPCA1"^^xsd:string) AnnotationAssertion( "OPCA4"^^xsd:string) AnnotationAssertion( "SCA1"^^xsd:string) AnnotationAssertion( "Schut Haymaker type OPCA"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder I"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy I"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy IV"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 1"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050954"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 1"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:183090"^^xsd:string) AnnotationAssertion( "NCI:C148315"^^xsd:string) AnnotationAssertion( "ORDO:98756"^^xsd:string) AnnotationAssertion( "OPCA2"^^xsd:string) AnnotationAssertion( "SCA2"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy 2"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy II"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy, Holguin type"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 2"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with slow eye movements"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, Cuban type"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy 2"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy II"^^xsd:string) AnnotationAssertion( "spinocerebellar degeneration with slow eye movements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050955"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 6) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10351"^^xsd:string) AnnotationAssertion( "MIM:183086"^^xsd:string) AnnotationAssertion( "MONDO:0008457"^^xsd:string) AnnotationAssertion( "NCI:C142838"^^xsd:string) AnnotationAssertion( "SCA6"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050956"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 6"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 4) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9970"^^xsd:string) AnnotationAssertion( "MIM:600223"^^xsd:string) AnnotationAssertion( "MONDO:0010847"^^xsd:string) AnnotationAssertion( "ORDO:98765"^^xsd:string) AnnotationAssertion( "SCA4"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 4"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050957"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 4"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 7) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003090"^^xsd:string) AnnotationAssertion( "MIM:164500"^^xsd:string) AnnotationAssertion( "MONDO:0008120"^^xsd:string) AnnotationAssertion( "NCI:C126562"^^xsd:string) AnnotationAssertion( "ADCA, type II"^^xsd:string) AnnotationAssertion( "OPCA III"^^xsd:string) AnnotationAssertion( "OPCA with macular degeneration and external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "OPCA with retinal degeneration"^^xsd:string) AnnotationAssertion( "OPCA3"^^xsd:string) AnnotationAssertion( "SCA7"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebellar ataxia, type II"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophy III"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050958"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 7"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 8) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608768"^^xsd:string) AnnotationAssertion( "MESH:C537307"^^xsd:string) AnnotationAssertion( "SCA8"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050959"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 8"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1175/"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603516"^^xsd:string) AnnotationAssertion( "GARD:10474"^^xsd:string) AnnotationAssertion( "MESH:C566874"^^xsd:string) AnnotationAssertion( "SCA10"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050960"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 10"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 11) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604432"^^xsd:string) AnnotationAssertion( "MESH:C565772"^^xsd:string) AnnotationAssertion( "SCA11"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 11"^^xsd:string) AnnotationAssertion( "TTBK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050961"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 11"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 12) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604326"^^xsd:string) AnnotationAssertion( "MESH:C565790"^^xsd:string) AnnotationAssertion( "NCI:C154316"^^xsd:string) AnnotationAssertion( "ORDO:98762"^^xsd:string) AnnotationAssertion( "PPP2R2B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "SCA12"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050962"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 12"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 13) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605259"^^xsd:string) AnnotationAssertion( "MESH:C537195"^^xsd:string) AnnotationAssertion( "Autosomal dominant cerebellar ataxia with mental retardation"^^xsd:string) AnnotationAssertion( "SCA13"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050963"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 13"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 14) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605361"^^xsd:string) AnnotationAssertion( "MESH:C537196"^^xsd:string) AnnotationAssertion( "RDO:0002985"^^xsd:string) AnnotationAssertion( "SCA14"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050964"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 14"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 15) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050966"^^xsd:string) AnnotationAssertion( "MIM:606658"^^xsd:string) AnnotationAssertion( "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA"^^xsd:string) AnnotationAssertion( "MESH:C564685"^^xsd:string) AnnotationAssertion( "NCI:C150250"^^xsd:string) AnnotationAssertion( "SCA15"^^xsd:string) AnnotationAssertion( "SCA16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 15"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 15/16"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050965"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 15"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (spinocerebellar ataxia type 17) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001531"^^xsd:string) AnnotationAssertion( "DOID:9002725"^^xsd:string) AnnotationAssertion( "MESH:C563505"^^xsd:string) AnnotationAssertion( "MESH:C565866"^^xsd:string) AnnotationAssertion( "MIM:607136"^^xsd:string) AnnotationAssertion( "EFO:0003091"^^xsd:string) AnnotationAssertion( "GARD:10469"^^xsd:string) AnnotationAssertion( "MESH:C564616"^^xsd:string) AnnotationAssertion( "MONDO:0011781"^^xsd:string) AnnotationAssertion( "NCI:C179861"^^xsd:string) AnnotationAssertion( "CPD2"^^xsd:string) AnnotationAssertion( "Cpd, Late-Onset Recessive Type"^^xsd:string) AnnotationAssertion( "HDL4"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like 4"^^xsd:string) AnnotationAssertion( "Huntington's Disease-Like 4"^^xsd:string) AnnotationAssertion( "OPCA with dementia and extrapyramidal signs"^^xsd:string) AnnotationAssertion( "OPCA5"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Atrophy V"^^xsd:string) AnnotationAssertion( "SCA17"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder II"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050967"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 17"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant cerebellar ataxia, deafness and narcolepsy) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604121"^^xsd:string) AnnotationAssertion( "GARD:12372"^^xsd:string) AnnotationAssertion( "MESH:C565825"^^xsd:string) AnnotationAssertion( "ADCADN"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, deafness, and narcolepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050968"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cerebellar ataxia, deafness and narcolepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 18) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607458"^^xsd:string) AnnotationAssertion( "RDO:0002986"^^xsd:string) AnnotationAssertion( "GARD:9976"^^xsd:string) AnnotationAssertion( "MESH:C537197"^^xsd:string) AnnotationAssertion( "SCA18"^^xsd:string) AnnotationAssertion( "SMNA"^^xsd:string) AnnotationAssertion( "Sensorimotor Neuropathy with Ataxia, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050969"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 18"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 19/22) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12365"^^xsd:string) AnnotationAssertion( "MESH:C537198"^^xsd:string) AnnotationAssertion( "MESH:C542540"^^xsd:string) AnnotationAssertion( "MIM:607346"^^xsd:string) AnnotationAssertion( "MONDO:0011819"^^xsd:string) AnnotationAssertion( "NCI:C163756"^^xsd:string) AnnotationAssertion( "ORDO:98772"^^xsd:string) AnnotationAssertion( "SCA19"^^xsd:string) AnnotationAssertion( "SCA22"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 19"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050970"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 19/22"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 20) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608687"^^xsd:string) AnnotationAssertion( "GARD:9997"^^xsd:string) AnnotationAssertion( "MESH:C537199"^^xsd:string) AnnotationAssertion( "RDO:0002988"^^xsd:string) AnnotationAssertion( "CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB"^^xsd:string) AnnotationAssertion( "SCA20"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia With Dysphonia"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia With Spasmodic Cough"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050971"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 20"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 21) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607454"^^xsd:string) AnnotationAssertion( "GARD:9999"^^xsd:string) AnnotationAssertion( "MESH:C537200"^^xsd:string) AnnotationAssertion( "RDO:0002989"^^xsd:string) AnnotationAssertion( "SCA21"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050972"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 21"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 23) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23"^^xsd:string) "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610245"^^xsd:string) AnnotationAssertion( "RDO:0002990"^^xsd:string) AnnotationAssertion( "MESH:C537201"^^xsd:string) AnnotationAssertion( "SCA23"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050973"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 23"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 25) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608703"^^xsd:string) AnnotationAssertion( "GARD:9996"^^xsd:string) AnnotationAssertion( "MESH:C537202"^^xsd:string) AnnotationAssertion( "SCA25"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050974"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 25"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 26) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609306"^^xsd:string) AnnotationAssertion( "GARD:9995"^^xsd:string) AnnotationAssertion( "MESH:C537203"^^xsd:string) AnnotationAssertion( "SCA26"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050975"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 26"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 27) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111794"^^xsd:string) AnnotationAssertion( "MESH:C537856"^^xsd:string) AnnotationAssertion( "GARD:9603"^^xsd:string) AnnotationAssertion( "MESH:C537204"^^xsd:string) AnnotationAssertion( "NYS4"^^xsd:string) AnnotationAssertion( "SCA27"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebellar ataxia, FGF14-related"^^xsd:string) AnnotationAssertion( "congenital nystagmus 4"^^xsd:string) AnnotationAssertion( "congenital nystagmus 4, autosomal dominant"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 27"^^xsd:string) AnnotationAssertion( "vestibulocerebellar disorder with predominant ocular signs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050976"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 28) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610246"^^xsd:string) AnnotationAssertion( "MESH:C537205"^^xsd:string) AnnotationAssertion( "SCA28"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050977"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 28"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 29) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117360"^^xsd:string) AnnotationAssertion( "ITPR1-related syndromic and non-syndromic hereditary ataxia"^^xsd:string) AnnotationAssertion( "MESH:C537206"^^xsd:string) AnnotationAssertion( "ACV"^^xsd:string) AnnotationAssertion( "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "CNPCA"^^xsd:string) AnnotationAssertion( "SCA29"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia 29, congenital nonprogressive"^^xsd:string) AnnotationAssertion( "aplasia of cerebellar vermis"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, early-onset, nonprogressive"^^xsd:string) AnnotationAssertion( "cerebellar vermis aplasia"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050978"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 29"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 30) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613371"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613371"^^xsd:string) AnnotationAssertion( "GARD:4950"^^xsd:string) AnnotationAssertion( "MESH:C575214"^^xsd:string) AnnotationAssertion( "RDO:0015780"^^xsd:string) AnnotationAssertion( "SCA30"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050979"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 30"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 31) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566146"^^xsd:string) AnnotationAssertion( "MIM:117210"^^xsd:string) AnnotationAssertion( "MONDO:0007296"^^xsd:string) AnnotationAssertion( "NCI:C176901"^^xsd:string) AnnotationAssertion( "ORDO:217012"^^xsd:string) AnnotationAssertion( "SCA31"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 31"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, 16q22-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050980"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 31"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 34) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005475"^^xsd:string) AnnotationAssertion( "MIM:133190"^^xsd:string) AnnotationAssertion( "MESH:C535738"^^xsd:string) AnnotationAssertion( "Giroux Barbeau syndrome"^^xsd:string) AnnotationAssertion( "erythrokeratodermia - ataxia"^^xsd:string) AnnotationAssertion( "erythrokeratodermia with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050981"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia type 35) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613908"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613908"^^xsd:string) AnnotationAssertion( "SCA35"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050982"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 35"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 36) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614153"^^xsd:string) AnnotationAssertion( "NCI:C148316"^^xsd:string) AnnotationAssertion( "SCA36"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050983"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 36"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 37) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615945"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615945"^^xsd:string) AnnotationAssertion( "SCA37"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050984"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 37"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 38) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615957"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009056"^^xsd:string) AnnotationAssertion( "MIM:615957"^^xsd:string) AnnotationAssertion( "SCA38"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050985"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 38"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia type 40) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616053"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "CCDC88C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009057"^^xsd:string) AnnotationAssertion( "MIM:616053"^^xsd:string) AnnotationAssertion( "SCA40"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050986"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia type 40"^^xsd:string) SubClassOf( ) # Class: (hypomyelinating leukoencephalopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22232354"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050987"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GRID2-related spinocerebellar ataxia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050988"^^xsd:string) AnnotationAssertion(rdfs:label "GRID2-related spinocerebellar ataxia"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/160120"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160120"^^xsd:string) AnnotationAssertion( "MESH:C563278"^^xsd:string) AnnotationAssertion( "AEM"^^xsd:string) AnnotationAssertion( "AEMK"^^xsd:string) AnnotationAssertion( "EA1"^^xsd:string) AnnotationAssertion( "EAM"^^xsd:string) AnnotationAssertion( "episodic ataxia with myokymia"^^xsd:string) AnnotationAssertion( "hereditary paroxysmal ataxia with neuromyotonia"^^xsd:string) AnnotationAssertion( "myokymia with periodic ataxia"^^xsd:string) AnnotationAssertion( "ISAACS-MERTENS SYNDROME"^^xsd:string) AnnotationAssertion( "MYOKYMIA 1 WITH HYPOMAGNESEMIA"^^xsd:string) AnnotationAssertion( "MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA"^^xsd:string) AnnotationAssertion( "hereditary continuous muscle fiber activity"^^xsd:string) AnnotationAssertion( "myokymia with periodic ataxia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050989"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/108500"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108500"^^xsd:string) AnnotationAssertion( "MESH:C535506"^^xsd:string) AnnotationAssertion( "NCI:C202603"^^xsd:string) AnnotationAssertion( "APCA"^^xsd:string) AnnotationAssertion( "Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Ataxia, Familial Paroxysmal"^^xsd:string) AnnotationAssertion( "CAPA"^^xsd:string) AnnotationAssertion( "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive"^^xsd:string) AnnotationAssertion( "Cerebellopathy, hereditary paroxysmal"^^xsd:string) AnnotationAssertion( "EA2"^^xsd:string) AnnotationAssertion( "Episodic ataxia with nystagmus"^^xsd:string) AnnotationAssertion( "acetazolamide-responsive episodic ataxia syndrome"^^xsd:string) AnnotationAssertion( "nystagmus-associated episodic ataxia"^^xsd:string) AnnotationAssertion( "EPISODIC ATAXIA, TYPE 2, AND EPILEPSY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050990"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/606554"^^xsd:string) "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606554"^^xsd:string) AnnotationAssertion( "RDO:0013568"^^xsd:string) AnnotationAssertion( "MESH:C564697"^^xsd:string) AnnotationAssertion( "EA3"^^xsd:string) AnnotationAssertion( "episodic ataxia with vertigo and tinnitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050991"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/606552"^^xsd:string) "An episodic ataxia that is characterized by vertigo and diplopia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606552"^^xsd:string) AnnotationAssertion( "MESH:C564698"^^xsd:string) AnnotationAssertion( "Periodic Vestibulocerebellar Ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050992"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 4"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613855"^^xsd:string) "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613855"^^xsd:string) AnnotationAssertion( "MESH:C566601"^^xsd:string) AnnotationAssertion( "EA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050993"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 6) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612656"^^xsd:string) "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612656"^^xsd:string) AnnotationAssertion( "MESH:C567207"^^xsd:string) AnnotationAssertion( "EA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050994"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic ataxia type 7) AnnotationAssertion(Annotation( "https://www.omim.org/entry/611907"^^xsd:string) "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611907"^^xsd:string) AnnotationAssertion( "MESH:C567459"^^xsd:string) AnnotationAssertion( "EA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050995"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 7"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 8) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616055"^^xsd:string) "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616055"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050996"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 8"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia, mental retardation and dysequlibrium syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28013290/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1874/"^^xsd:string) "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001947"^^xsd:string) AnnotationAssertion( "GARD:1998"^^xsd:string) AnnotationAssertion( "MESH:C535731"^^xsd:string) AnnotationAssertion( "MIM:PS224050"^^xsd:string) AnnotationAssertion( "CAMRQ"^^xsd:string) AnnotationAssertion( "Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion"^^xsd:string) AnnotationAssertion( "DES"^^xsd:string) AnnotationAssertion( "Des-Vldlr"^^xsd:string) AnnotationAssertion( "Uner Tan syndrome"^^xsd:string) AnnotationAssertion( "VLDLR Cerebellar Hypoplasia"^^xsd:string) AnnotationAssertion( "VLDLR-CH"^^xsd:string) AnnotationAssertion( "VLDLR-associated cerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "VLDLRCH"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia with mental retardation"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification"^^xsd:string) AnnotationAssertion( "congenital cerebellar ataxia and mental retardation, autosomal recessive"^^xsd:string) AnnotationAssertion( "dysequilibrium syndrome"^^xsd:string) AnnotationAssertion( "dysequilibrium syndrome-VLDLR"^^xsd:string) AnnotationAssertion( "nonprogressive cerebellar disorder with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050997"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia, mental retardation and dysequlibrium syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonprogressive cerebellar ataxia with mental retardation) AnnotationAssertion(Annotation( "MIM:614756"^^xsd:string) Annotation( "https://www.omim.org/entry/614756"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614756"^^xsd:string) AnnotationAssertion( "CAMTA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CANPMR"^^xsd:string) AnnotationAssertion( "CECBA"^^xsd:string) AnnotationAssertion( "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050998"^^xsd:string) AnnotationAssertion(rdfs:label "nonprogressive cerebellar ataxia with mental retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 10) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613728"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613728"^^xsd:string) AnnotationAssertion( "SCAR10"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia, autosomal recessive 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0050999"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 10"^^xsd:string) SubClassOf( ) # Class: (infective endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocarditis"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Infective_endocarditis"^^xsd:string) "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6337"^^xsd:string) AnnotationAssertion( "infective endocarditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060000"^^xsd:string) AnnotationAssertion(rdfs:label "infective endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (withdrawal disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Withdrawal"^^xsd:string) "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004777"^^xsd:string) AnnotationAssertion( "EFO:0005800"^^xsd:string) AnnotationAssertion( "MESH:D013375"^^xsd:string) AnnotationAssertion( "Drug Withdrawal Symptom"^^xsd:string) AnnotationAssertion( "Substance Withdrawal Syndrome"^^xsd:string) AnnotationAssertion( "Substance Withdrawal Syndromes"^^xsd:string) AnnotationAssertion( "Withdrawal Symptom"^^xsd:string) AnnotationAssertion( "drug withdrawal symptoms"^^xsd:string) AnnotationAssertion( "withdrawal symptoms"^^xsd:string) AnnotationAssertion( "alcohol withdrawal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060001"^^xsd:string) AnnotationAssertion(rdfs:label "withdrawal disorder"^^xsd:string) SubClassOf( ) # Class: (C1 inhibitor deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease"^^xsd:string) "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "C1 esterase inhibitor deficiency"^^xsd:string) AnnotationAssertion( "Quincke edema"^^xsd:string) AnnotationAssertion( "deficiency of C1 esterase inhibitor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060002"^^xsd:string) AnnotationAssertion(rdfs:label "C1 inhibitor deficiency"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of central nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune hypersensitivity disease located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060004"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of central nervous system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of endocrine system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060005"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of endocrine system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CD3zeta deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string) "A severe combined immunodeficiency that affects the development and function of T cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060007"^^xsd:string) AnnotationAssertion(rdfs:label "CD3zeta deficiency"^^xsd:string) SubClassOf( ) # Class: (janus kinase-3 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance"^^xsd:string) "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005565"^^xsd:string) AnnotationAssertion( "RDO:9002904"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060008"^^xsd:string) AnnotationAssertion(rdfs:label "janus kinase-3 deficiency"^^xsd:string) SubClassOf( ) # Class: (MHC class I deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25001848"^^xsd:string) "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604571"^^xsd:string) AnnotationAssertion( "MESH:C565759"^^xsd:string) AnnotationAssertion( "NCI:C171267"^^xsd:string) AnnotationAssertion( "RDO:0014312"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "BLS, Type I"^^xsd:string) AnnotationAssertion( "BLSI"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome, Type I"^^xsd:string) AnnotationAssertion( "HLA Class I Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060009"^^xsd:string) AnnotationAssertion(rdfs:label "MHC class I deficiency"^^xsd:string) SubClassOf( ) # Class: (Omenn syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Omenn_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11213808"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14328107"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603554"^^xsd:string) AnnotationAssertion( "GARD:8198"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.8"^^xsd:string) AnnotationAssertion( "MESH:C538564"^^xsd:string) AnnotationAssertion( "NCI:C61240"^^xsd:string) AnnotationAssertion( "Omenn's syndrome"^^xsd:string) AnnotationAssertion( "Omenns syndrome"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with hypereosinophilia"^^xsd:string) AnnotationAssertion( "familial reticuloendotheliosis, with eosinophilia"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency with hypereosinophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060010"^^xsd:string) AnnotationAssertion(rdfs:label "Omenn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (recombinase activating gene 1 deficiency) AnnotationAssertion(Annotation( "http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string) "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000572"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060011"^^xsd:string) AnnotationAssertion(rdfs:label "recombinase activating gene 1 deficiency"^^xsd:string) SubClassOf( ) # Class: (recombinase activating gene 2 deficiency) AnnotationAssertion(Annotation( "http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html"^^xsd:string) "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009651"^^xsd:string) AnnotationAssertion( "RDO:9002906"^^xsd:string) AnnotationAssertion( "RAG2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060012"^^xsd:string) AnnotationAssertion(rdfs:label "recombinase activating gene 2 deficiency"^^xsd:string) SubClassOf( ) # Class: (X-linked severe combined immunodeficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms"^^xsd:string) "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005555"^^xsd:string) AnnotationAssertion( "EFO:1001451"^^xsd:string) AnnotationAssertion( "GARD:5618"^^xsd:string) AnnotationAssertion( "MIM:300400"^^xsd:string) AnnotationAssertion( "NCI:C4682"^^xsd:string) AnnotationAssertion( "IMD4"^^xsd:string) AnnotationAssertion( "Immunodeficiency 4"^^xsd:string) AnnotationAssertion( "SCID-X1"^^xsd:string) AnnotationAssertion( "SCIDX"^^xsd:string) AnnotationAssertion( "SCIDX1"^^xsd:string) AnnotationAssertion( "X-SCID"^^xsd:string) AnnotationAssertion( "X-linked SCID"^^xsd:string) AnnotationAssertion( "X-linked severe combined immunodeficiency disease"^^xsd:string) AnnotationAssertion( "X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative"^^xsd:string) AnnotationAssertion( "XSCID"^^xsd:string) AnnotationAssertion( "gamma chain deficiency"^^xsd:string) AnnotationAssertion( "thymic epithelial hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060013"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked severe combined immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CD45 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29366662"^^xsd:string) "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060014"^^xsd:string) AnnotationAssertion(rdfs:label "CD45 deficiency"^^xsd:string) SubClassOf( ) # Class: (interleukin-7 receptor alpha deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15661025"^^xsd:string) "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002909"^^xsd:string) AnnotationAssertion( "IL-7R"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060015"^^xsd:string) AnnotationAssertion(rdfs:label "interleukin-7 receptor alpha deficiency"^^xsd:string) SubClassOf( ) # Class: (CD3delta deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15640687"^^xsd:string) "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "CD3D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060016"^^xsd:string) AnnotationAssertion(rdfs:label "CD3delta deficiency"^^xsd:string) SubClassOf( ) # Class: (CD3epsilon deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060017"^^xsd:string) AnnotationAssertion(rdfs:label "CD3epsilon deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CD3gamma deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16264327"^^xsd:string) "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060018"^^xsd:string) AnnotationAssertion(rdfs:label "CD3gamma deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronin-1A deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed"^^xsd:string) "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615401"^^xsd:string) AnnotationAssertion( "IMD8"^^xsd:string) AnnotationAssertion( "immunodeficiency 8"^^xsd:string) AnnotationAssertion( "immunodeficiency-8 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS"^^xsd:string) AnnotationAssertion( "DOID:0060019"^^xsd:string) AnnotationAssertion(rdfs:label "coronin-1A deficiency"^^xsd:string) SubClassOf( ) # Class: (reticular dysgenesis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/204?"^^xsd:string) "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242880"^^xsd:string) AnnotationAssertion( "MIM:267500"^^xsd:string) AnnotationAssertion( "GARD:8625"^^xsd:string) AnnotationAssertion( "MESH:C538361"^^xsd:string) AnnotationAssertion( "NCI:C27070"^^xsd:string) AnnotationAssertion( "De Vaal Disease"^^xsd:string) AnnotationAssertion( "DeVaal disease"^^xsd:string) AnnotationAssertion( "Hematopoietic Hypoplasia, Generalized"^^xsd:string) AnnotationAssertion( "Immunoerythromyeloid Hypoplasia"^^xsd:string) AnnotationAssertion( "aleukocytosis"^^xsd:string) AnnotationAssertion( "congenital aleukia"^^xsd:string) AnnotationAssertion( "reticular dysgenesia"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency with leukopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060020"^^xsd:string) AnnotationAssertion(rdfs:label "reticular dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (DNA ligase IV deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/606593"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/3981"^^xsd:string) "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606593"^^xsd:string) AnnotationAssertion( "MESH:C564694"^^xsd:string) AnnotationAssertion( "NCI:C122657"^^xsd:string) AnnotationAssertion( "DNA Ligase IV Syndrome"^^xsd:string) AnnotationAssertion( "LIG4 Syndrome"^^xsd:string) AnnotationAssertion( "LIG4-related disorder"^^xsd:string) AnnotationAssertion( "LIG4-related disorders"^^xsd:string) AnnotationAssertion( "PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060021"^^xsd:string) AnnotationAssertion(rdfs:label "DNA ligase IV deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CD40 ligand deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30681380"^^xsd:string) "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)"^^xsd:string) AnnotationAssertion( "MIM:308230"^^xsd:string) AnnotationAssertion( "MESH:D053307"^^xsd:string) AnnotationAssertion( "HIGM1"^^xsd:string) AnnotationAssertion( "HIGM1 syndrome"^^xsd:string) AnnotationAssertion( "HIGM1 syndromes"^^xsd:string) AnnotationAssertion( "HIGMX-1"^^xsd:string) AnnotationAssertion( "Hyper IgM Syndrome 1"^^xsd:string) AnnotationAssertion( "IHIS"^^xsd:string) AnnotationAssertion( "IMD3"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 3"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM"^^xsd:string) AnnotationAssertion( "Immunodeficiency with Hyper IgM, Type 1"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM immunodeficiencies"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM immunodeficiency"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM syndrome"^^xsd:string) AnnotationAssertion( "X-linked hyper-immunoglobulin M (IgM) syndrome"^^xsd:string) AnnotationAssertion( "XHIGM"^^xsd:string) AnnotationAssertion( "XHIM"^^xsd:string) AnnotationAssertion( "hyper-IgM immunodeficiency syndrome, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060022"^^xsd:string) AnnotationAssertion(rdfs:label "CD40 ligand deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency with hyper IgM type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11675497"^^xsd:string) "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10579"^^xsd:string) AnnotationAssertion( "MIM:606843"^^xsd:string) AnnotationAssertion( "NCI:C176416"^^xsd:string) AnnotationAssertion( "ORDO:101090"^^xsd:string) AnnotationAssertion( "CD40 deficiency"^^xsd:string) AnnotationAssertion( "CD40-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HIGM3"^^xsd:string) AnnotationAssertion( "HIGM3 syndrome"^^xsd:string) AnnotationAssertion( "Hyper IgM Immunodeficiency Syndrome Type 3"^^xsd:string) AnnotationAssertion( "hyper IgM syndrome 3"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome due to CD40 deficiency"^^xsd:string) AnnotationAssertion( "type 3 hyper-IgM immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060023"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency with hyper IgM type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lambda 5 deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/3543?"^^xsd:string) "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060024"^^xsd:string) AnnotationAssertion(rdfs:label "lambda 5 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin alpha deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/gene/973?"^^xsd:string) "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001929"^^xsd:string) AnnotationAssertion( "GARD:10197"^^xsd:string) AnnotationAssertion( "MESH:D017098"^^xsd:string) AnnotationAssertion( "ORDO:69127"^^xsd:string) AnnotationAssertion( "IgA deficiencies"^^xsd:string) AnnotationAssertion( "IgA deficiency"^^xsd:string) AnnotationAssertion( "gamma-A-globulin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060025"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin alpha deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin beta deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string) "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567200"^^xsd:string) AnnotationAssertion( "RDO:0015341"^^xsd:string) AnnotationAssertion( "CD79B Deficiency"^^xsd:string) AnnotationAssertion( "IgB Deficiency"^^xsd:string) AnnotationAssertion( "Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060026"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin beta deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10583958"^^xsd:string) "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009901"^^xsd:string) AnnotationAssertion( "MIM:613502"^^xsd:string) AnnotationAssertion( "AGM4"^^xsd:string) AnnotationAssertion( "B cell linker protein deficiency"^^xsd:string) AnnotationAssertion( "BLNK deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive agammaglobulinemia 4"^^xsd:string) AnnotationAssertion( "autosomal recessive agammaglobulinemia due to BLNK defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060027"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Good syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Good_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102047/"^^xsd:string) "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "thymoma with hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060028"^^xsd:string) AnnotationAssertion(rdfs:label "Good syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of exocrine system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060029"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of exocrine system"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of eyes, ear, nose and throat) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060030"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of eyes, ear, nose and throat"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of gastrointestinal tract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060031"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of gastrointestinal tract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of musculoskeletal system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060032"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of musculoskeletal system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease of peripheral nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060033"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of peripheral nervous system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dropped head syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23203936/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751"^^xsd:string) "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T18:56:52Z"^^xsd:string) AnnotationAssertion( "DOID:9009019"^^xsd:string) AnnotationAssertion( "EFO:1001987"^^xsd:string) AnnotationAssertion( "Dropped Head Syndromes"^^xsd:string) AnnotationAssertion( "floppy head syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060034"^^xsd:string) AnnotationAssertion(rdfs:label "dropped head syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intrinsic cardiomyopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string) "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060036"^^xsd:string) AnnotationAssertion(rdfs:label "intrinsic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (developmental disorder of mental health) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Developmental_disorders"^^xsd:string) "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005548"^^xsd:string) AnnotationAssertion( "RDO:9003240"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060037"^^xsd:string) AnnotationAssertion(rdfs:label "developmental disorder of mental health"^^xsd:string) SubClassOf( ) # Class: (specific developmental disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Specific_developmental_disorder"^^xsd:string) "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060038"^^xsd:string) AnnotationAssertion(rdfs:label "specific developmental disorder"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of skin and connective tissue) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060039"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of skin and connective tissue"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pervasive developmental disorder) AnnotationAssertion(Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Pervasive-Developmental-Disorders-Information-Page"^^xsd:string) "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000537"^^xsd:string) AnnotationAssertion( "ICD9CM:299.80"^^xsd:string) AnnotationAssertion( "MESH:D002659"^^xsd:string) AnnotationAssertion( "NCI:C97179"^^xsd:string) AnnotationAssertion( "pervasive child development disorders"^^xsd:string) AnnotationAssertion( "pervasive development disorder"^^xsd:string) AnnotationAssertion( "pervasive development disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060040"^^xsd:string) AnnotationAssertion(rdfs:label "pervasive developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autism spectrum disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autism_spectrum_disorder"^^xsd:string) Annotation( "http://www.neurodevnet.ca"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Autism"^^xsd:string) "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003756"^^xsd:string) AnnotationAssertion( "GARD:10248"^^xsd:string) AnnotationAssertion( "MESH:D000067877"^^xsd:string) AnnotationAssertion( "NCI:C88412"^^xsd:string) AnnotationAssertion( "ASD"^^xsd:string) AnnotationAssertion( "Autism Spectrum Disorders"^^xsd:string) AnnotationAssertion( "Autistic spectrum disorder with isolated skills"^^xsd:string) AnnotationAssertion( "NRXN2-RELATED AUTISM SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "familial autism spectrum disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUTISM, SUSCEPTIBLITY TO"^^xsd:string) AnnotationAssertion( "DOID:0060041"^^xsd:string) AnnotationAssertion(rdfs:label "autism spectrum disorder"^^xsd:string) SubClassOf( ) # Class: (atypical autism) AnnotationAssertion(Annotation( "http://counsellingresource.com/distress/autistic/autism-atypical.html"^^xsd:string) Annotation( "https://kidsbrainhealth.ca"^^xsd:string) Annotation( "https://www.thehealthboard.com/what-is-atypical-autism.htm"^^xsd:string) "An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003759"^^xsd:string) AnnotationAssertion( "MONDO:0016052"^^xsd:string) AnnotationAssertion( "PDD"^^xsd:string) AnnotationAssertion( "pervasive developmental disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060042"^^xsd:string) AnnotationAssertion(rdfs:label "atypical autism"^^xsd:string) SubClassOf( ) # Class: (sexual health disorder) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction"^^xsd:string) "A disease of mental health that involves the impairment in normal sexual functioning. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020018"^^xsd:string) AnnotationAssertion( "Frigidity"^^xsd:string) AnnotationAssertion( "Orgasmic Disorder"^^xsd:string) AnnotationAssertion( "Sexual Arousal Disorder"^^xsd:string) AnnotationAssertion( "Sexual Arousal Disorders"^^xsd:string) AnnotationAssertion( "Sexual Aversion Disorder"^^xsd:string) AnnotationAssertion( "orgasmic disorders"^^xsd:string) AnnotationAssertion( "sexual aversion disorders"^^xsd:string) AnnotationAssertion( "sexual disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060043"^^xsd:string) AnnotationAssertion(rdfs:label "sexual health disorder"^^xsd:string) SubClassOf( ) # Class: (paraphilia disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paraphilia"^^xsd:string) "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010262"^^xsd:string) AnnotationAssertion( "Paraphilia"^^xsd:string) AnnotationAssertion( "Paraphilic Disorder"^^xsd:string) AnnotationAssertion( "Paraphilic Disorders"^^xsd:string) AnnotationAssertion( "Sex Deviation"^^xsd:string) AnnotationAssertion( "paraphilias"^^xsd:string) AnnotationAssertion( "sex deviations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060044"^^xsd:string) AnnotationAssertion(rdfs:label "paraphilia disorder"^^xsd:string) SubClassOf( ) # Class: (Munchausen by proxy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Munchausen_by_proxy"^^xsd:string) "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016735"^^xsd:string) AnnotationAssertion( "Munchausen syndrome by proxy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060045"^^xsd:string) AnnotationAssertion(rdfs:label "Munchausen by proxy"^^xsd:string) SubClassOf( ) # Class: (aphasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aphasia"^^xsd:string) "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D001037"^^xsd:string) AnnotationAssertion( "MONDO:0000598"^^xsd:string) AnnotationAssertion( "Acquired Aphasia"^^xsd:string) AnnotationAssertion( "Ageusic Aphasia"^^xsd:string) AnnotationAssertion( "Alogia"^^xsd:string) AnnotationAssertion( "Anepia"^^xsd:string) AnnotationAssertion( "Auditory Discriminatory Aphasia"^^xsd:string) AnnotationAssertion( "Commisural Aphasia"^^xsd:string) AnnotationAssertion( "Dejerine Lichtheim Phenomenon"^^xsd:string) AnnotationAssertion( "Dysphasia"^^xsd:string) AnnotationAssertion( "Functional Aphasia"^^xsd:string) AnnotationAssertion( "Functional Aphasias"^^xsd:string) AnnotationAssertion( "Global Aphasia"^^xsd:string) AnnotationAssertion( "Global Aphasias"^^xsd:string) AnnotationAssertion( "Global Dysphasia"^^xsd:string) AnnotationAssertion( "Global Dysphasias"^^xsd:string) AnnotationAssertion( "Graphomotor Aphasia"^^xsd:string) AnnotationAssertion( "Graphomotor Aphasias"^^xsd:string) AnnotationAssertion( "Intellectual Aphasia"^^xsd:string) AnnotationAssertion( "Intellectual Aphasias"^^xsd:string) AnnotationAssertion( "Lichtheim Sign"^^xsd:string) AnnotationAssertion( "Lichtheim's Sign"^^xsd:string) AnnotationAssertion( "Lichtheims Sign"^^xsd:string) AnnotationAssertion( "Logagnosia"^^xsd:string) AnnotationAssertion( "Logagnosias"^^xsd:string) AnnotationAssertion( "Logamnesia"^^xsd:string) AnnotationAssertion( "Logamnesias"^^xsd:string) AnnotationAssertion( "Logasthenia"^^xsd:string) AnnotationAssertion( "Logasthenias"^^xsd:string) AnnotationAssertion( "Mixed Aphasia"^^xsd:string) AnnotationAssertion( "Mixed Aphasias"^^xsd:string) AnnotationAssertion( "Post-Ictal Aphasia"^^xsd:string) AnnotationAssertion( "Post-Ictal Aphasias"^^xsd:string) AnnotationAssertion( "Post-Traumatic Aphasia"^^xsd:string) AnnotationAssertion( "Post-Traumatic Aphasias"^^xsd:string) AnnotationAssertion( "Progressive Aphasia"^^xsd:string) AnnotationAssertion( "ageusic aphasias"^^xsd:string) AnnotationAssertion( "alogias"^^xsd:string) AnnotationAssertion( "anepias"^^xsd:string) AnnotationAssertion( "auditory discriminatory aphasias"^^xsd:string) AnnotationAssertion( "commisural aphasias"^^xsd:string) AnnotationAssertion( "progressive aphasias"^^xsd:string) AnnotationAssertion( "semantic aphasia"^^xsd:string) AnnotationAssertion( "semantic aphasias"^^xsd:string) AnnotationAssertion( "syntactical aphasia"^^xsd:string) AnnotationAssertion( "syntactical aphasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060046"^^xsd:string) AnnotationAssertion(rdfs:label "aphasia"^^xsd:string) SubClassOf( ) # Class: (writing disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities"^^xsd:string) "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060047"^^xsd:string) AnnotationAssertion(rdfs:label "writing disorder"^^xsd:string) SubClassOf( ) # Class: (nosophobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nosophobia"^^xsd:string) "A specific phobia that involves an irrational fear of contracting a disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001903"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060048"^^xsd:string) AnnotationAssertion(rdfs:label "nosophobia"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of urogenital tract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060049"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of urogenital tract"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of blood) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060050"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of blood"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of cardiovascular system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459447/"^^xsd:string) "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000603"^^xsd:string) AnnotationAssertion( "autoimmune disorder of cardiovascular system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060051"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of cardiovascular system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autonomic peripheral neuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Autonomic_neuropathy"^^xsd:string) "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060054"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic peripheral neuropathy"^^xsd:string) SubClassOf( ) # Class: (popliteal pterygium syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2352260"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4384166"^^xsd:string) "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119500"^^xsd:string) AnnotationAssertion( "GARD:3242"^^xsd:string) AnnotationAssertion( "MESH:C562509"^^xsd:string) AnnotationAssertion( "NCI:C118786"^^xsd:string) AnnotationAssertion( "ORDO:1300"^^xsd:string) AnnotationAssertion( "ORDO:294963"^^xsd:string) AnnotationAssertion( "PPS"^^xsd:string) AnnotationAssertion( "cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies"^^xsd:string) AnnotationAssertion( "facio-genito-popliteal syndrome"^^xsd:string) AnnotationAssertion( "faciogenitopopliteal syndrome"^^xsd:string) AnnotationAssertion( "popliteal web syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060055"^^xsd:string) AnnotationAssertion(rdfs:label "popliteal pterygium syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypersensitivity reaction disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypersensitivity"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK27136/"^^xsd:string) "An immune system disease that has_material_basis_in abnormal immune responses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060056"^^xsd:string) AnnotationAssertion(rdfs:label "hypersensitivity reaction disease"^^xsd:string) SubClassOf( ) # Class: (gluten allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy"^^xsd:string) "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "allergy to gluten"^^xsd:string) AnnotationAssertion( "gluten allergic reaction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060057"^^xsd:string) AnnotationAssertion(rdfs:label "gluten allergy"^^xsd:string) SubClassOf( ) # Class: (lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphoma"^^xsd:string) Annotation( "http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/lymphoma.html"^^xsd:string) "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000574"^^xsd:string) AnnotationAssertion( "ICD10CM:C85.9"^^xsd:string) AnnotationAssertion( "ICDO:9590/3"^^xsd:string) AnnotationAssertion( "MESH:D008223"^^xsd:string) AnnotationAssertion( "MONDO:0005062"^^xsd:string) AnnotationAssertion( "NCI:C128121"^^xsd:string) AnnotationAssertion( "NCI:C134786"^^xsd:string) AnnotationAssertion( "NCI:C21602"^^xsd:string) AnnotationAssertion( "NCI:C3208"^^xsd:string) AnnotationAssertion( "NCI:C60448"^^xsd:string) AnnotationAssertion( "NCI:C7065"^^xsd:string) AnnotationAssertion( "germinoblastic sarcoma"^^xsd:string) AnnotationAssertion( "germinoblastic sarcomas"^^xsd:string) AnnotationAssertion( "germinoblastoma"^^xsd:string) AnnotationAssertion( "germinoblastomas"^^xsd:string) AnnotationAssertion( "lymphoid cancer"^^xsd:string) AnnotationAssertion( "lymphomas"^^xsd:string) AnnotationAssertion( "malignant lymphoma"^^xsd:string) AnnotationAssertion( "malignant lymphomas"^^xsd:string) AnnotationAssertion( "reticulolymphosarcoma"^^xsd:string) AnnotationAssertion( "reticulolymphosarcomas"^^xsd:string) AnnotationAssertion( "lymphoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060058"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (non-Hodgkin lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45148"^^xsd:string) "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605027"^^xsd:string) AnnotationAssertion( "EFO:0005952"^^xsd:string) AnnotationAssertion( "ICDO:9591/3"^^xsd:string) AnnotationAssertion( "MESH:D008228"^^xsd:string) AnnotationAssertion( "NCI:C179055"^^xsd:string) AnnotationAssertion( "NCI:C3211"^^xsd:string) AnnotationAssertion( "ORDO:547"^^xsd:string) AnnotationAssertion( "Diffuse Mixed Small and Large Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Small Cleaved Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Diffuse Undifferentiated Lymphoma"^^xsd:string) AnnotationAssertion( "High-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Intermediate-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Low-Grade Lymphoma"^^xsd:string) AnnotationAssertion( "Lymphatic Sarcoma"^^xsd:string) AnnotationAssertion( "Lymphoma, Atypical Diffuse Small Lymphoid"^^xsd:string) AnnotationAssertion( "Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic"^^xsd:string) AnnotationAssertion( "Lymphoma, Non-Hodgkin, Familial"^^xsd:string) AnnotationAssertion( "Lymphoma, Nonhodgkin"^^xsd:string) AnnotationAssertion( "Lymphoma, Small and Large Cleaved-Cell, Diffuse"^^xsd:string) AnnotationAssertion( "Lymphosarcoma"^^xsd:string) AnnotationAssertion( "Mixed Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Mixed Lymphocytic-Histiocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Mixed Lymphoma"^^xsd:string) AnnotationAssertion( "NHL"^^xsd:string) AnnotationAssertion( "diffuse lymphoma"^^xsd:string) AnnotationAssertion( "diffuse lymphomas"^^xsd:string) AnnotationAssertion( "diffuse mixed cell lymphoma"^^xsd:string) AnnotationAssertion( "diffuse mixed-cell lymphomas"^^xsd:string) AnnotationAssertion( "diffuse undifferentiated lymphomas"^^xsd:string) AnnotationAssertion( "high-grade lymphomas"^^xsd:string) AnnotationAssertion( "intermediate-grade lymphomas"^^xsd:string) AnnotationAssertion( "low-grade lymphomas"^^xsd:string) AnnotationAssertion( "lymphatic sarcomas"^^xsd:string) AnnotationAssertion( "lymphosarcomas"^^xsd:string) AnnotationAssertion( "mixed lymphocytic-histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "mixed lymphomas"^^xsd:string) AnnotationAssertion( "mixed-cell lymphomas"^^xsd:string) AnnotationAssertion( "non-Hodgkin malignant lymphoma"^^xsd:string) AnnotationAssertion( "non-Hodgkin's lymphoma"^^xsd:string) AnnotationAssertion( "non-Hodgkins lymphoma"^^xsd:string) AnnotationAssertion( "pleomorphic lymphoma"^^xsd:string) AnnotationAssertion( "pleomorphic lymphomas"^^xsd:string) AnnotationAssertion( "small non cleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small non-cleaved-cell lymphomas"^^xsd:string) AnnotationAssertion( "small noncleaved cell lymphoma"^^xsd:string) AnnotationAssertion( "small noncleaved-cell lymphomas"^^xsd:string) AnnotationAssertion( "undifferentiated lymphoma"^^xsd:string) AnnotationAssertion( "undifferentiated lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Lymphoma, Non-Hodgkin, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:0060060"^^xsd:string) AnnotationAssertion(rdfs:label "non-Hodgkin lymphoma"^^xsd:string) SubClassOf( ) # Class: (primary cutaneous T-cell non-Hodgkin lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma"^^xsd:string) "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6226"^^xsd:string) AnnotationAssertion( "MESH:D016410"^^xsd:string) AnnotationAssertion( "MONDO:0000607"^^xsd:string) AnnotationAssertion( "NCI:C186279"^^xsd:string) AnnotationAssertion( "NCI:C3467"^^xsd:string) AnnotationAssertion( "cutaneous T-cell lymphoma"^^xsd:string) AnnotationAssertion( "cutaneous T-cell lymphomas"^^xsd:string) AnnotationAssertion( "granulomatous slack skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060061"^^xsd:string) AnnotationAssertion(rdfs:label "primary cutaneous T-cell non-Hodgkin lymphoma"^^xsd:string) SubClassOf( ) # Class: (familial juvenile hyperuricemic nephropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21060763"^^xsd:string) "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS162000"^^xsd:string) AnnotationAssertion( "ORDO:209886"^^xsd:string) AnnotationAssertion( "ORDO:217330"^^xsd:string) AnnotationAssertion( "ADTKD"^^xsd:string) AnnotationAssertion( "FJHN"^^xsd:string) AnnotationAssertion( "GCKD"^^xsd:string) AnnotationAssertion( "HNFJ"^^xsd:string) AnnotationAssertion( "MCKD"^^xsd:string) AnnotationAssertion( "autosomal dominant tubulointerstitial kidney disease"^^xsd:string) AnnotationAssertion( "glomerulocystic kidney disease"^^xsd:string) AnnotationAssertion( "hereditary interstitial kidney disease"^^xsd:string) AnnotationAssertion( "medullary cystic kidney disease"^^xsd:string) AnnotationAssertion( "tubulointerstitial nephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060062"^^xsd:string) AnnotationAssertion(rdfs:label "familial juvenile hyperuricemic nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sideroblastic anemia 1) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia"^^xsd:string) "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300751"^^xsd:string) AnnotationAssertion( "ALAS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9456"^^xsd:string) AnnotationAssertion( "MESH:C536761"^^xsd:string) AnnotationAssertion( "ANH1"^^xsd:string) AnnotationAssertion( "Erythroid 5-Aminolevulinate Synthase Deficiency"^^xsd:string) AnnotationAssertion( "Hereditary Iron-Loading Anemia"^^xsd:string) AnnotationAssertion( "SIDBA1"^^xsd:string) AnnotationAssertion( "X chromosome-linked sideroblastic anemia"^^xsd:string) AnnotationAssertion( "X-linked pyridoxine-responsive sideroblastic anemia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "X-linked sideroblastic anemia"^^xsd:string) AnnotationAssertion( "XLSA"^^xsd:string) AnnotationAssertion( "congenital sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "hereditary sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sex-linked hypochromic sideroblastic anemia"^^xsd:string) AnnotationAssertion( "sideroblastic anaemia 1"^^xsd:string) AnnotationAssertion( "ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY"^^xsd:string) AnnotationAssertion( "sideroblastic anaemia 1, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060063"^^xsd:string) AnnotationAssertion(rdfs:label "sideroblastic anemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal recessive pyridoxine-refractory sideroblastic anemia 2) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive"^^xsd:string) "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567145"^^xsd:string) AnnotationAssertion( "MIM:205950"^^xsd:string) AnnotationAssertion( "MONDO:0008785"^^xsd:string) AnnotationAssertion( "SIDBA2"^^xsd:string) AnnotationAssertion( "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory autosomal recessive sideroblastic anaemia"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory autosomal recessive sideroblastic anemia"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory sideroblastic anemia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060065"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyridoxine-responsive sideroblastic anemia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive"^^xsd:string) "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:206000"^^xsd:string) AnnotationAssertion( "MESH:C565954"^^xsd:string) AnnotationAssertion( "Anemia, Congenital Sideroblastic, B6-Responsive"^^xsd:string) AnnotationAssertion( "pyridoxine-responsive sideroblastic anemia, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060066"^^xsd:string) AnnotationAssertion(rdfs:label "pyridoxine-responsive sideroblastic anemia"^^xsd:string) SubClassOf( ) # Class: (Pearson syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pearson_syndrome"^^xsd:string) "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7343"^^xsd:string) AnnotationAssertion( "MIM:557000"^^xsd:string) AnnotationAssertion( "NCI:C115326"^^xsd:string) AnnotationAssertion( "Pearson marrow-pancreas syndrome"^^xsd:string) AnnotationAssertion( "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060067"^^xsd:string) AnnotationAssertion(rdfs:label "Pearson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonbacterial thrombotic endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Marantic_endocarditis"^^xsd:string) "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D059905"^^xsd:string) AnnotationAssertion( "marantic endocarditides"^^xsd:string) AnnotationAssertion( "marantic endocarditis"^^xsd:string) AnnotationAssertion( "non-bacterial thrombotic endocarditis"^^xsd:string) AnnotationAssertion( "non-infective endocarditides"^^xsd:string) AnnotationAssertion( "non-infective endocarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060068"^^xsd:string) AnnotationAssertion(rdfs:label "nonbacterial thrombotic endocarditis"^^xsd:string) SubClassOf( ) # Class: (pre-malignant neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string) "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006892"^^xsd:string) AnnotationAssertion( "EFO:1000265"^^xsd:string) AnnotationAssertion( "EFO:1000443"^^xsd:string) AnnotationAssertion( "EFO:1000536"^^xsd:string) AnnotationAssertion( "MESH:D011230"^^xsd:string) AnnotationAssertion( "Precancerous Condition"^^xsd:string) AnnotationAssertion( "Preneoplastic Condition"^^xsd:string) AnnotationAssertion( "precancerous conditions"^^xsd:string) AnnotationAssertion( "preneoplastic conditions"^^xsd:string) AnnotationAssertion( "Clonal Hematopoiesis"^^xsd:string) AnnotationAssertion( "Gallbladder Biliary Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "Pancreatic Precancerous Condition"^^xsd:string) AnnotationAssertion( "Small Intestinal Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "cutaneous precancerous condition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060071"^^xsd:string) AnnotationAssertion(rdfs:label "pre-malignant neoplasm"^^xsd:string) SubClassOf( ) # Class: (benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_neoplasm"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/benigntumors.html"^^xsd:string) "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002422"^^xsd:string) AnnotationAssertion( "MONDO:0005165"^^xsd:string) AnnotationAssertion( "benign neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060072"^^xsd:string) AnnotationAssertion(rdfs:label "benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (lymphatic system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphatic_system"^^xsd:string) "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060073"^^xsd:string) AnnotationAssertion(rdfs:label "lymphatic system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ductal carcinoma in situ) AnnotationAssertion(Annotation( "https://www.breastcancer.org/symptoms/types/dcis"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma"^^xsd:string) "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000432"^^xsd:string) AnnotationAssertion( "EFO:0008491"^^xsd:string) AnnotationAssertion( "MESH:D002285"^^xsd:string) AnnotationAssertion( "DCIS"^^xsd:string) AnnotationAssertion( "Intraductal Carcinoma"^^xsd:string) AnnotationAssertion( "Intraductal Carcinomas"^^xsd:string) AnnotationAssertion( "noninfiltrating intraductal carcinoma"^^xsd:string) AnnotationAssertion( "noninfiltrating intraductal carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Atypical Ductal Hyperplasia"^^xsd:string) AnnotationAssertion( "Atypical Ductal Hyperplasias"^^xsd:string) AnnotationAssertion( "DOID:0060074"^^xsd:string) AnnotationAssertion(rdfs:label "ductal carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (estrogen-receptor positive breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string) "A breast cancer that is characterized by the presence of estrogen receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000649"^^xsd:string) AnnotationAssertion( "RDO:9001776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060075"^^xsd:string) AnnotationAssertion(rdfs:label "estrogen-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (estrogen-receptor negative breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string) "A breast cancer that is characterized by the absence of estrogen receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000650"^^xsd:string) AnnotationAssertion( "RDO:9001777"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060076"^^xsd:string) AnnotationAssertion(rdfs:label "estrogen-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (progesterone-receptor positive breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string) "A breast cancer that is characterized by the presence of progesterone receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009782"^^xsd:string) AnnotationAssertion( "RDO:9001778"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060077"^^xsd:string) AnnotationAssertion(rdfs:label "progesterone-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (progesterone-receptor negative breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25471040"^^xsd:string) "A breast cancer that is characterized by the absence of progesterone receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009781"^^xsd:string) AnnotationAssertion( "RDO:9001779"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060078"^^xsd:string) AnnotationAssertion(rdfs:label "progesterone-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (Her2-receptor positive breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/S1470204511703369"^^xsd:string) "A breast cancer that is characterized by the presence of Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000294"^^xsd:string) AnnotationAssertion( "RDO:9001780"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060079"^^xsd:string) AnnotationAssertion(rdfs:label "Her2-receptor positive breast cancer"^^xsd:string) SubClassOf( ) # Class: (Her2-receptor negative breast cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25682076"^^xsd:string) "A breast cancer that is characterized by the absence of Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009780"^^xsd:string) AnnotationAssertion( "RDO:9001781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060080"^^xsd:string) AnnotationAssertion(rdfs:label "Her2-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (triple-receptor negative breast cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22826413"^^xsd:string) "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005537"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060081"^^xsd:string) AnnotationAssertion(rdfs:label "triple-receptor negative breast cancer"^^xsd:string) SubClassOf( ) # Class: (breast benign neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html"^^xsd:string) "A thoracic benign neoplasm that is characterized by lack of malignancy. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9003366"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060082"^^xsd:string) AnnotationAssertion(rdfs:label "breast benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immune system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Immune_system"^^xsd:string) "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060083"^^xsd:string) AnnotationAssertion(rdfs:label "immune system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cell type benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060084"^^xsd:string) AnnotationAssertion(rdfs:label "cell type benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (organ system benign neoplasm) AnnotationAssertion(Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367"^^xsd:string) "A benign neoplasm that is classified by the organ system from which it is arising from. (DO)"^^xsd:string) AnnotationAssertion( "DOID:1789"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060085"^^xsd:string) AnnotationAssertion(rdfs:label "organ system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string) "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060086"^^xsd:string) AnnotationAssertion(rdfs:label "female reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male reproductive organ benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9556/"^^xsd:string) "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002414"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060087"^^xsd:string) AnnotationAssertion(rdfs:label "male reproductive organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vestibular gland benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bartholin%27s_gland"^^xsd:string) Annotation( "https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060088"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular gland benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (endocrine organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string) "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060089"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system benign neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq"^^xsd:string) "A nervous system benign neoplasm that is characterized by lack of malignancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060090"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiovascular organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system"^^xsd:string) "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060091"^^xsd:string) AnnotationAssertion(rdfs:label "cardiovascular organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immune system organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Immune_system"^^xsd:string) "An organ system benign neoplasm located_in the immune system organs. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9002422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060092"^^xsd:string) AnnotationAssertion(rdfs:label "immune system organ benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (bone benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_tumor"^^xsd:string) "A connective tissue benign neoplasm that is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060094"^^xsd:string) AnnotationAssertion(rdfs:label "bone benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Uterine_fibroid"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK9559/"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002424"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060095"^^xsd:string) AnnotationAssertion(rdfs:label "uterine benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sensory organ benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system benign neoplasm that is located_in a sensory organ. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060096"^^xsd:string) AnnotationAssertion(rdfs:label "sensory organ benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thoracic benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string) "An organ system benign neoplam that is located_in the thoracic cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060097"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteoblastoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Osteoblastoma"^^xsd:string) "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000410"^^xsd:string) AnnotationAssertion( "ICDO:9200/0"^^xsd:string) AnnotationAssertion( "MESH:D018215"^^xsd:string) AnnotationAssertion( "NCI:C3294"^^xsd:string) AnnotationAssertion( "giant osteoid osteoma"^^xsd:string) AnnotationAssertion( "giant osteoid osteomas"^^xsd:string) AnnotationAssertion( "osteoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060098"^^xsd:string) AnnotationAssertion(rdfs:label "osteoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (musculoskeletal system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Musculoskeletal_system"^^xsd:string) "An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060099"^^xsd:string) AnnotationAssertion(rdfs:label "musculoskeletal system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (musculoskeletal system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders"^^xsd:string) "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "skeletal system cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060100"^^xsd:string) AnnotationAssertion(rdfs:label "musculoskeletal system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (cartilage cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cartilage_tumor"^^xsd:string) "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060102"^^xsd:string) AnnotationAssertion(rdfs:label "cartilage cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system embryonal tumor) AnnotationAssertion(Annotation( "http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor"^^xsd:string) "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9473/3"^^xsd:string) AnnotationAssertion( "NCI:C5398"^^xsd:string) AnnotationAssertion( "CNS embryonal tumour, NEC/NOS"^^xsd:string) AnnotationAssertion( "central nervous system primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060103"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system embryonal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellar medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medulloblastoma"^^xsd:string) "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060104"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain meningioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meningioma"^^xsd:string) "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060106"^^xsd:string) AnnotationAssertion(rdfs:label "brain meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain glioma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/lowergradeglioma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string) "A brain cancer that has_material_basis_in glial cells. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564230"^^xsd:string) AnnotationAssertion( "Familial Glioma of Brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lower grade glioma"^^xsd:string) AnnotationAssertion( "DOID:0060108"^^xsd:string) AnnotationAssertion(rdfs:label "brain glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25220103"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060109"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8400047"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060110"^^xsd:string) AnnotationAssertion(rdfs:label "cervical benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube benign neoplasm) AnnotationAssertion(Annotation( "http://www.glowm.com/section_view/item/8"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000134"^^xsd:string) AnnotationAssertion( "RDO:9003381"^^xsd:string) AnnotationAssertion( "Borderline Fallopian Tube Serous Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060111"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24992780"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002507"^^xsd:string) AnnotationAssertion( "EFO:1000113"^^xsd:string) AnnotationAssertion( "EFO:1000116"^^xsd:string) AnnotationAssertion( "EFO:1000117"^^xsd:string) AnnotationAssertion( "Benign Ovarian Endometrioid Tumor"^^xsd:string) AnnotationAssertion( "Benign Ovarian Surface Epithelial-Stromal Tumor"^^xsd:string) AnnotationAssertion( "ovarian adenoma benign"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060112"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal benign neoplasm) AnnotationAssertion(Annotation( "https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5"^^xsd:string) "A female reproductive organ benign neoplasm that is located_in the vagina. (DO)"^^xsd:string) AnnotationAssertion( "vaginal benign neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060114"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nervous system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nervous_system"^^xsd:string) "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060115"^^xsd:string) AnnotationAssertion(rdfs:label "nervous system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sensory system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sensory_system"^^xsd:string) "A nervous system cancer that is located in the sensory system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060116"^^xsd:string) AnnotationAssertion(rdfs:label "sensory system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peritoneal benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peritoneal"^^xsd:string) "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060117"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (thoracic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thoracic_cavity"^^xsd:string) "A disease of anatomical entity that is located_in the thoracic cavity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013896"^^xsd:string) AnnotationAssertion( "thoracic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060118"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pharynx cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pharynx"^^xsd:string) "A gastrointestinal system cancer that is located_in the pharynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005577"^^xsd:string) AnnotationAssertion( "EFO:1000472"^^xsd:string) AnnotationAssertion( "NCI:C3325"^^xsd:string) AnnotationAssertion( "RDO:9002335"^^xsd:string) AnnotationAssertion( "pharyngeal cancer"^^xsd:string) AnnotationAssertion( "Pharyngeal Adenoid Cystic Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060119"^^xsd:string) AnnotationAssertion(rdfs:label "pharynx cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (integumentary system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string) "An organ system benign neoplasm located_in the integumentary system organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060121"^^xsd:string) AnnotationAssertion(rdfs:label "integumentary system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (integumentary system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string) "An organ system cancer that is located_in the skin, hair and nails. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060122"^^xsd:string) AnnotationAssertion(rdfs:label "integumentary system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (connective tissue benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Connective_tissue_neoplasm"^^xsd:string) "A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3377"^^xsd:string) AnnotationAssertion( "mesenchymal tissue neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of soft tissue"^^xsd:string) AnnotationAssertion( "neoplasm of soft tissues"^^xsd:string) AnnotationAssertion( "soft tissue benign neoplasm"^^xsd:string) AnnotationAssertion( "tumor of the soft tissue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060123"^^xsd:string) AnnotationAssertion(rdfs:label "connective tissue benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heavy chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001341"^^xsd:string) AnnotationAssertion( "ICD10CM:C88.2"^^xsd:string) AnnotationAssertion( "ICDO:9762/3"^^xsd:string) AnnotationAssertion( "MESH:D006362"^^xsd:string) AnnotationAssertion( "NCI:C3082"^^xsd:string) AnnotationAssertion( "NCI:C3083"^^xsd:string) AnnotationAssertion( "NCI:C3892"^^xsd:string) AnnotationAssertion( "Heavy Chain Diseases"^^xsd:string) AnnotationAssertion( "gamma Chain Disease"^^xsd:string) AnnotationAssertion( "gamma-Chain Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060125"^^xsd:string) AnnotationAssertion(rdfs:label "heavy chain disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alpha chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001798"^^xsd:string) AnnotationAssertion( "MESH:D007161"^^xsd:string) AnnotationAssertion( "IPSID"^^xsd:string) AnnotationAssertion( "Seligmann's disease"^^xsd:string) AnnotationAssertion( "alpha heavy chain disease"^^xsd:string) AnnotationAssertion( "alpha-chain diseases"^^xsd:string) AnnotationAssertion( "heavy chain disease, IgA type"^^xsd:string) AnnotationAssertion( "immunoproliferative small intestinal disease"^^xsd:string) AnnotationAssertion( "mediterranean lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060126"^^xsd:string) AnnotationAssertion(rdfs:label "alpha chain disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gamma heavy chain disease) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx"^^xsd:string) "A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO)"^^xsd:string) AnnotationAssertion( "GARD:10346"^^xsd:string) AnnotationAssertion( "Franklin disease"^^xsd:string) AnnotationAssertion( "Franklin's disease"^^xsd:string) AnnotationAssertion( "Franklins disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060127"^^xsd:string) AnnotationAssertion(rdfs:label "gamma heavy chain disease"^^xsd:string) SubClassOf( ) # Class: (mu chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO)"^^xsd:string) AnnotationAssertion( "mu-chain diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060128"^^xsd:string) AnnotationAssertion(rdfs:label "mu chain disease"^^xsd:string) SubClassOf( ) # Class: (delta chain disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heavy_chain_disease"^^xsd:string) "A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060129"^^xsd:string) AnnotationAssertion(rdfs:label "delta chain disease"^^xsd:string) SubClassOf( ) # Class: (akinetopsia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of motion perception. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060130"^^xsd:string) AnnotationAssertion(rdfs:label "akinetopsia"^^xsd:string) SubClassOf( ) # Class: (alexithymia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060131"^^xsd:string) AnnotationAssertion(rdfs:label "alexithymia"^^xsd:string) SubClassOf( ) # Class: (amusia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO)"^^xsd:string) AnnotationAssertion( "MIM:191200"^^xsd:string) AnnotationAssertion( "MESH:C566019"^^xsd:string) AnnotationAssertion( "congenital amusia"^^xsd:string) AnnotationAssertion( "dysmelodia"^^xsd:string) AnnotationAssertion( "receptive amusia"^^xsd:string) AnnotationAssertion( "tone deafness"^^xsd:string) AnnotationAssertion( "tune deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060132"^^xsd:string) AnnotationAssertion(rdfs:label "amusia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anosognosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "anosognosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060133"^^xsd:string) AnnotationAssertion(rdfs:label "anosognosia"^^xsd:string) SubClassOf( ) # Class: (apperceptive agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguish visual shapes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060134"^^xsd:string) AnnotationAssertion(rdfs:label "apperceptive agnosia"^^xsd:string) SubClassOf( ) # Class: (apraxia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5838"^^xsd:string) AnnotationAssertion( "ICD10CM:R48.2"^^xsd:string) AnnotationAssertion( "MESH:D001072"^^xsd:string) AnnotationAssertion( "NCI:C180557"^^xsd:string) AnnotationAssertion( "Articulatory Dyspraxia"^^xsd:string) AnnotationAssertion( "CAS"^^xsd:string) AnnotationAssertion( "DVD"^^xsd:string) AnnotationAssertion( "Developmental Verbal Apraxia"^^xsd:string) AnnotationAssertion( "Dressing Apraxia"^^xsd:string) AnnotationAssertion( "Dyspraxia"^^xsd:string) AnnotationAssertion( "Dyspraxias"^^xsd:string) AnnotationAssertion( "Facial-Oral Apraxia"^^xsd:string) AnnotationAssertion( "Facial-Oral Apraxias"^^xsd:string) AnnotationAssertion( "Gestural Apraxia"^^xsd:string) AnnotationAssertion( "Gestural Apraxias"^^xsd:string) AnnotationAssertion( "Ideational Apraxia"^^xsd:string) AnnotationAssertion( "Ideational Apraxias"^^xsd:string) AnnotationAssertion( "Motor Apraxia"^^xsd:string) AnnotationAssertion( "Motor Apraxias"^^xsd:string) AnnotationAssertion( "Oral Apraxia"^^xsd:string) AnnotationAssertion( "Oral Apraxias"^^xsd:string) AnnotationAssertion( "Oral Dyspraxia"^^xsd:string) AnnotationAssertion( "Oral Dyspraxias"^^xsd:string) AnnotationAssertion( "apraxia of phonation"^^xsd:string) AnnotationAssertion( "apraxias"^^xsd:string) AnnotationAssertion( "articulatory apraxia"^^xsd:string) AnnotationAssertion( "articulatory apraxias"^^xsd:string) AnnotationAssertion( "articulatory dyspraxias"^^xsd:string) AnnotationAssertion( "developmental verbal apraxias"^^xsd:string) AnnotationAssertion( "developmental verbal dyspraxia"^^xsd:string) AnnotationAssertion( "developmental verbal dyspraxias"^^xsd:string) AnnotationAssertion( "dressing apraxias"^^xsd:string) AnnotationAssertion( "phonation apraxia"^^xsd:string) AnnotationAssertion( "phonation apraxias"^^xsd:string) AnnotationAssertion( "verbal apraxia"^^xsd:string) AnnotationAssertion( "verbal apraxias"^^xsd:string) AnnotationAssertion( "verbal dyspraxia"^^xsd:string) AnnotationAssertion( "verbal dyspraxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060135"^^xsd:string) AnnotationAssertion(rdfs:label "apraxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (associative agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060136"^^xsd:string) AnnotationAssertion(rdfs:label "associative agnosia"^^xsd:string) SubClassOf( ) # Class: (auditory agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "congenital auditory agnosia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060137"^^xsd:string) AnnotationAssertion(rdfs:label "auditory agnosia"^^xsd:string) SubClassOf( ) # Class: (autotopagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to orient parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060138"^^xsd:string) AnnotationAssertion(rdfs:label "autotopagnosia"^^xsd:string) SubClassOf( ) # Class: (color agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060139"^^xsd:string) AnnotationAssertion(rdfs:label "color agnosia"^^xsd:string) SubClassOf( ) # Class: (cortical deafness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006313"^^xsd:string) AnnotationAssertion( "central hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060140"^^xsd:string) AnnotationAssertion(rdfs:label "cortical deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (finger agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060141"^^xsd:string) AnnotationAssertion(rdfs:label "finger agnosia"^^xsd:string) SubClassOf( ) # Class: (form agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060142"^^xsd:string) AnnotationAssertion(rdfs:label "form agnosia"^^xsd:string) SubClassOf( ) # Class: (integrative agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060143"^^xsd:string) AnnotationAssertion(rdfs:label "integrative agnosia"^^xsd:string) SubClassOf( ) # Class: (mirror agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060144"^^xsd:string) AnnotationAssertion(rdfs:label "mirror agnosia"^^xsd:string) SubClassOf( ) # Class: (pain agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive and process pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001484"^^xsd:string) AnnotationAssertion( "analgesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060145"^^xsd:string) AnnotationAssertion(rdfs:label "pain agnosia"^^xsd:string) SubClassOf( ) # Class: (phonagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize familiar voices. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060146"^^xsd:string) AnnotationAssertion(rdfs:label "phonagnosia"^^xsd:string) SubClassOf( ) # Class: (semantic agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060147"^^xsd:string) AnnotationAssertion(rdfs:label "semantic agnosia"^^xsd:string) SubClassOf( ) # Class: (simultanagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:11943"^^xsd:string) AnnotationAssertion( "MONDO:0000678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060148"^^xsd:string) AnnotationAssertion(rdfs:label "simultanagnosia"^^xsd:string) SubClassOf( ) # Class: (social emotional agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "expressive agnosia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060149"^^xsd:string) AnnotationAssertion(rdfs:label "social emotional agnosia"^^xsd:string) SubClassOf( ) # Class: (astereognosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "somatosensory agnosia"^^xsd:string) AnnotationAssertion( "somatosensory agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060150"^^xsd:string) AnnotationAssertion(rdfs:label "astereognosia"^^xsd:string) SubClassOf( ) # Class: (tactile agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "tactile agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060151"^^xsd:string) AnnotationAssertion(rdfs:label "tactile agnosia"^^xsd:string) SubClassOf( ) # Class: (time agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "time agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060152"^^xsd:string) AnnotationAssertion(rdfs:label "time agnosia"^^xsd:string) SubClassOf( ) # Class: (topographical agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "topographical agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060153"^^xsd:string) AnnotationAssertion(rdfs:label "topographical agnosia"^^xsd:string) SubClassOf( ) # Class: (verbal auditory agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060154"^^xsd:string) AnnotationAssertion(rdfs:label "verbal auditory agnosia"^^xsd:string) SubClassOf( ) # Class: (visual agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to visually recognize objects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531604"^^xsd:string) AnnotationAssertion( "monomodal visual amnesia"^^xsd:string) AnnotationAssertion( "primary visual agnosia"^^xsd:string) AnnotationAssertion( "visual agnosia for objects"^^xsd:string) AnnotationAssertion( "visual agnosias"^^xsd:string) AnnotationAssertion( "visual amnesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060155"^^xsd:string) AnnotationAssertion(rdfs:label "visual agnosia"^^xsd:string) SubClassOf( ) # Class: (visual verbal agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020237"^^xsd:string) AnnotationAssertion( "Alexia Syndrome Without Agraphia"^^xsd:string) AnnotationAssertion( "Alexia Without Agraphia"^^xsd:string) AnnotationAssertion( "Alexia, Pure"^^xsd:string) AnnotationAssertion( "Pure Alexia Without Agraphia"^^xsd:string) AnnotationAssertion( "Pure Alexias"^^xsd:string) AnnotationAssertion( "Pure Word Blindness"^^xsd:string) AnnotationAssertion( "Pure Word Blindnesses"^^xsd:string) AnnotationAssertion( "alexia without agraphias"^^xsd:string) AnnotationAssertion( "visual verbal agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060156"^^xsd:string) AnnotationAssertion(rdfs:label "visual verbal agnosia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse alopecia areata) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alopecia_areata"^^xsd:string) "An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531609"^^xsd:string) AnnotationAssertion( "MONDO:0000687"^^xsd:string) AnnotationAssertion( "Cazenave's vitiligo"^^xsd:string) AnnotationAssertion( "Celsus' Vitiligo"^^xsd:string) AnnotationAssertion( "Jonston's Alopecia"^^xsd:string) AnnotationAssertion( "alopecia celsi"^^xsd:string) AnnotationAssertion( "diffuse alopecia"^^xsd:string) AnnotationAssertion( "marginal alopecia"^^xsd:string) AnnotationAssertion( "patchy alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060157"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse alopecia areata"^^xsd:string) SubClassOf( ) # Class: (acquired metabolic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_error_of_metabolism"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68008659"^^xsd:string) "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000639"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060158"^^xsd:string) AnnotationAssertion(rdfs:label "acquired metabolic disease"^^xsd:string) SubClassOf( ) # Class: (organic acidemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aciduria"^^xsd:string) "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9433"^^xsd:string) AnnotationAssertion( "organic acid metabolism disorder"^^xsd:string) AnnotationAssertion( "organic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060159"^^xsd:string) AnnotationAssertion(rdfs:label "organic acidemia"^^xsd:string) SubClassOf( ) # Class: (childhood spinal muscular atrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy"^^xsd:string) "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014897"^^xsd:string) AnnotationAssertion( "NCI:C85076"^^xsd:string) AnnotationAssertion( "ORDO:70"^^xsd:string) AnnotationAssertion( "juvenile muscular atrophy"^^xsd:string) AnnotationAssertion( "juvenile spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal muscular atrophies of childhood"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy 1"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy of childhood"^^xsd:string) AnnotationAssertion( "survival motor neuron spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060160"^^xsd:string) AnnotationAssertion(rdfs:label "childhood spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kennedy's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kennedy_disease"^^xsd:string) "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537017"^^xsd:string) AnnotationAssertion( "MIM:313200"^^xsd:string) AnnotationAssertion( "GARD:6818"^^xsd:string) AnnotationAssertion( "MESH:D055534"^^xsd:string) AnnotationAssertion( "NCI:C85233"^^xsd:string) AnnotationAssertion( "KD"^^xsd:string) AnnotationAssertion( "Kennedy Syndrome"^^xsd:string) AnnotationAssertion( "Kennedy disease"^^xsd:string) AnnotationAssertion( "Kennedy spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "Kennedys disease"^^xsd:string) AnnotationAssertion( "SBMA"^^xsd:string) AnnotationAssertion( "SMAX1"^^xsd:string) AnnotationAssertion( "X linked bulbospinal muscular atrophy"^^xsd:string) AnnotationAssertion( "X-linked bulbo-spinal atrophies"^^xsd:string) AnnotationAssertion( "X-linked bulbo-spinal atrophy"^^xsd:string) AnnotationAssertion( "X-linked bulbospinal neuronopathy, recessive"^^xsd:string) AnnotationAssertion( "X-linked spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "X-linked spinal and bulbar muscular atrophy 1"^^xsd:string) AnnotationAssertion( "XBSN"^^xsd:string) AnnotationAssertion( "spinal and bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal bulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "spinobulbar muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060161"^^xsd:string) AnnotationAssertion(rdfs:label "Kennedy's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dentatorubral-pallidoluysian atrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:125370"^^xsd:string) AnnotationAssertion( "ATN1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "congenital ATN1-related disorder"^^xsd:string) AnnotationAssertion( "GARD:5643"^^xsd:string) AnnotationAssertion( "MESH:C538427"^^xsd:string) AnnotationAssertion( "NCI:C122653"^^xsd:string) AnnotationAssertion( "DRPLA"^^xsd:string) AnnotationAssertion( "HRS"^^xsd:string) AnnotationAssertion( "Haw River syndrome"^^xsd:string) AnnotationAssertion( "Naito Oyanagi disease"^^xsd:string) AnnotationAssertion( "ataxia, chorea, seizures, and dementia"^^xsd:string) AnnotationAssertion( "myoclonic epilepsy with choreoathetosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060162"^^xsd:string) AnnotationAssertion(rdfs:label "dentatorubral-pallidoluysian atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (body dysmorphic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Body_dysmorphic_disorder"^^xsd:string) "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)"^^xsd:string) AnnotationAssertion( "MESH:D057215"^^xsd:string) AnnotationAssertion( "Body Image Disfunction"^^xsd:string) AnnotationAssertion( "Body Image Disfunctions"^^xsd:string) AnnotationAssertion( "body dysmorphia"^^xsd:string) AnnotationAssertion( "body dysmorphic disorders"^^xsd:string) AnnotationAssertion( "body image disorder"^^xsd:string) AnnotationAssertion( "body image disorders"^^xsd:string) AnnotationAssertion( "dysmorphic syndrome"^^xsd:string) AnnotationAssertion( "dysmorphophobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dysmorphic features"^^xsd:string) AnnotationAssertion( "DOID:0060163"^^xsd:string) AnnotationAssertion(rdfs:label "body dysmorphic disorder"^^xsd:string) SubClassOf( ) # Class: (pain disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pain_disorder"^^xsd:string) "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060164"^^xsd:string) AnnotationAssertion(rdfs:label "pain disorder"^^xsd:string) SubClassOf( ) # Class: (Kleine-Levin syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kleine-Levin_syndrome"^^xsd:string) "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148840"^^xsd:string) AnnotationAssertion( "EFO:1001354"^^xsd:string) AnnotationAssertion( "MESH:D017593"^^xsd:string) AnnotationAssertion( "Familial Kleine Levin Syndrome"^^xsd:string) AnnotationAssertion( "Kleine Levin Critchley Syndrome"^^xsd:string) AnnotationAssertion( "Kleine Levin Hibernation Syndrome"^^xsd:string) AnnotationAssertion( "Periodic Hypersomnia"^^xsd:string) AnnotationAssertion( "familial hibernation (Kleine-Levin) syndrome"^^xsd:string) AnnotationAssertion( "periodic hypersomnias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060165"^^xsd:string) AnnotationAssertion(rdfs:label "Kleine-Levin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bipolar ll disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bipolar_II"^^xsd:string) "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0080221"^^xsd:string) AnnotationAssertion( "MIM:309200"^^xsd:string) AnnotationAssertion( "EFO:0009964"^^xsd:string) AnnotationAssertion( "MESH:C564108"^^xsd:string) AnnotationAssertion( "MAFD2"^^xsd:string) AnnotationAssertion( "MDI"^^xsd:string) AnnotationAssertion( "MDX"^^xsd:string) AnnotationAssertion( "major affective disorder 2"^^xsd:string) AnnotationAssertion( "manic-depressive illness"^^xsd:string) AnnotationAssertion( "manic-depressive psychosis, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060166"^^xsd:string) AnnotationAssertion(rdfs:label "bipolar ll disorder"^^xsd:string) SubClassOf( ) # Class: (seasonal affective disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Seasonal_affective_disorder"^^xsd:string) "A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016574"^^xsd:string) AnnotationAssertion( "seasonal affective disorders"^^xsd:string) AnnotationAssertion( "seasonal mood disorder"^^xsd:string) AnnotationAssertion( "seasonal mood disorders"^^xsd:string) AnnotationAssertion( "winter depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060167"^^xsd:string) AnnotationAssertion(rdfs:label "seasonal affective disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histidinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Histidinemia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/histidinemia"^^xsd:string) "A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235800"^^xsd:string) AnnotationAssertion( "GARD:6661"^^xsd:string) AnnotationAssertion( "MESH:C538320"^^xsd:string) AnnotationAssertion( "HAL Deficiency"^^xsd:string) AnnotationAssertion( "HIS DEFICIENCY"^^xsd:string) AnnotationAssertion( "Histidase deficiency"^^xsd:string) AnnotationAssertion( "Histidine ammonia-lyase deficiency"^^xsd:string) AnnotationAssertion( "deficiency in histidase"^^xsd:string) AnnotationAssertion( "histidinuria"^^xsd:string) AnnotationAssertion( "hyperhistidinemia"^^xsd:string) AnnotationAssertion( "increased histidine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060168"^^xsd:string) AnnotationAssertion(rdfs:label "histidinemia"^^xsd:string) SubClassOf( ) # Class: (benign familial infantile epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12503648"^^xsd:string) "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1518"^^xsd:string) AnnotationAssertion( "GARD:857"^^xsd:string) AnnotationAssertion( "MIM:PS601764"^^xsd:string) AnnotationAssertion( "NCI:C183308"^^xsd:string) AnnotationAssertion( "ORDO:306"^^xsd:string) AnnotationAssertion( "BFIC"^^xsd:string) AnnotationAssertion( "BFIE"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsion"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions syndrome"^^xsd:string) AnnotationAssertion( "benign familial infantile seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060169"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile epilepsy"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22011963"^^xsd:string) "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G40.3"^^xsd:string) AnnotationAssertion( "MESH:C565808"^^xsd:string) AnnotationAssertion( "MIM:PS604233"^^xsd:string) AnnotationAssertion( "ORDO:36387"^^xsd:string) AnnotationAssertion( "GEFS+"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060170"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (juvenile absence epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27986418"^^xsd:string) "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS607631"^^xsd:string) AnnotationAssertion( "NCI:C129868"^^xsd:string) AnnotationAssertion( "JAE"^^xsd:string) AnnotationAssertion( "juvenile absence epilepsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060172"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile absence epilepsy"^^xsd:string) SubClassOf( ) # Class: (Timothy syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1403/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/timothy-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15863612"^^xsd:string) "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601005"^^xsd:string) AnnotationAssertion( "CACNA1C-related disorder"^^xsd:string) AnnotationAssertion( "GARD:9294"^^xsd:string) AnnotationAssertion( "MESH:C536962"^^xsd:string) AnnotationAssertion( "ORDO:65283"^^xsd:string) AnnotationAssertion( "TS"^^xsd:string) AnnotationAssertion( "long QT syndrome with syndactyly"^^xsd:string) AnnotationAssertion( "TIMOTHY SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060173"^^xsd:string) AnnotationAssertion(rdfs:label "Timothy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GABA aminotransferase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613163"^^xsd:string) AnnotationAssertion( "MESH:C535407"^^xsd:string) AnnotationAssertion( "4 alpha aminobutyrate transaminase deficiency"^^xsd:string) AnnotationAssertion( "GABA-transaminase deficiency"^^xsd:string) AnnotationAssertion( "Gamma aminobutyrate transaminase deficiency"^^xsd:string) AnnotationAssertion( "gamma aminobutyric acid transaminase deficiency"^^xsd:string) AnnotationAssertion( "gamma-amino butyric acid transaminase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060174"^^xsd:string) AnnotationAssertion(rdfs:label "GABA aminotransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (succinic semialdehyde dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271980"^^xsd:string) AnnotationAssertion( "MESH:C535803"^^xsd:string) AnnotationAssertion( "4-hydroxybutyric aciduria"^^xsd:string) AnnotationAssertion( "4-hydroxybutyricaciduria"^^xsd:string) AnnotationAssertion( "GABA metabolic defect"^^xsd:string) AnnotationAssertion( "SSADH"^^xsd:string) AnnotationAssertion( "SSADH deficiency"^^xsd:string) AnnotationAssertion( "SSADHD"^^xsd:string) AnnotationAssertion( "gamma-hydroxybutyric acidemia"^^xsd:string) AnnotationAssertion( "gamma-hydroxybutyric aciduria"^^xsd:string) AnnotationAssertion( "succinate-semialdehyde dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060175"^^xsd:string) AnnotationAssertion(rdfs:label "succinic semialdehyde dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gamma-amino butyric acid metabolism disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12891648"^^xsd:string) "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060176"^^xsd:string) AnnotationAssertion(rdfs:label "gamma-amino butyric acid metabolism disorder"^^xsd:string) SubClassOf( ) # Class: (homocarnosinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carnosinemia"^^xsd:string) Annotation( "http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf"^^xsd:string) "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212200"^^xsd:string) AnnotationAssertion( "MIM:236130"^^xsd:string) AnnotationAssertion( "GARD:2730"^^xsd:string) AnnotationAssertion( "MESH:C535328"^^xsd:string) AnnotationAssertion( "NCI:C125661"^^xsd:string) AnnotationAssertion( "carnosinase deficiency"^^xsd:string) AnnotationAssertion( "carnosinemia"^^xsd:string) AnnotationAssertion( "homocarnosinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060177"^^xsd:string) AnnotationAssertion(rdfs:label "homocarnosinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemiplegic migraine) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine"^^xsd:string) "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10975"^^xsd:string) AnnotationAssertion( "ICD10CM:G43.8"^^xsd:string) AnnotationAssertion( "ICD9CM:346.8"^^xsd:string) AnnotationAssertion( "MIM:PS141500"^^xsd:string) AnnotationAssertion( "ORDO:569"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraines"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060178"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemiplegic migraine"^^xsd:string) SubClassOf( ) # Class: (Renpenning syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renpenning%27s_syndrome"^^xsd:string) "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309500"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.5"^^xsd:string) AnnotationAssertion( "MESH:C537761"^^xsd:string) AnnotationAssertion( "NCI:C165533"^^xsd:string) AnnotationAssertion( "ORDO:3242"^^xsd:string) AnnotationAssertion( "Golabi-Ito-Hall syndrome"^^xsd:string) AnnotationAssertion( "Hamel Cerebropalatocardiac Syndrome"^^xsd:string) AnnotationAssertion( "MRX55"^^xsd:string) AnnotationAssertion( "MRXS3"^^xsd:string) AnnotationAssertion( "MRXS8"^^xsd:string) AnnotationAssertion( "Porteous Syndrome"^^xsd:string) AnnotationAssertion( "RENS1"^^xsd:string) AnnotationAssertion( "Renpenning syndrome 1"^^xsd:string) AnnotationAssertion( "SHS"^^xsd:string) AnnotationAssertion( "Sutherland-Haan X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Sutherland-Haan syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual deficit due to PQBP1 mutations"^^xsd:string) AnnotationAssertion( "X-linked intellectual deficit, Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability due to PQBP1 mutations"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation Renpenning type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndromic 3"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with spastic diplegia"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, 55"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060179"^^xsd:string) AnnotationAssertion(rdfs:label "Renpenning syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Colitis"^^xsd:string) "An inflammatory bowel disease that involves inflammation located_in colon. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003872"^^xsd:string) AnnotationAssertion( "MESH:D003092"^^xsd:string) AnnotationAssertion( "NCI:C26723"^^xsd:string) AnnotationAssertion( "colitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060180"^^xsd:string) AnnotationAssertion(rdfs:label "colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ischemic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ischemic_colitis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677"^^xsd:string) "A colitis caused_by inadequate blood supply to the colon. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K55.9"^^xsd:string) AnnotationAssertion( "MESH:D017091"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060181"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microscopic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Microscopic_colitis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis"^^xsd:string) "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001295"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.83"^^xsd:string) AnnotationAssertion( "MESH:D046728"^^xsd:string) AnnotationAssertion( "NCI:C38504"^^xsd:string) AnnotationAssertion( "ORDO:58220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060182"^^xsd:string) AnnotationAssertion(rdfs:label "microscopic colitis"^^xsd:string) SubClassOf( ) # Class: (collagenous colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Collagenous_colitis"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts"^^xsd:string) "A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001293"^^xsd:string) AnnotationAssertion( "GARD:6135"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.831"^^xsd:string) AnnotationAssertion( "MESH:D046729"^^xsd:string) AnnotationAssertion( "NCI:C27021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060183"^^xsd:string) AnnotationAssertion(rdfs:label "collagenous colitis"^^xsd:string) SubClassOf( ) # Class: (lymphocytic colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphocytic_colitis"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts"^^xsd:string) "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001294"^^xsd:string) AnnotationAssertion( "GARD:6939"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.832"^^xsd:string) AnnotationAssertion( "MESH:D046730"^^xsd:string) AnnotationAssertion( "MONDO:0000704"^^xsd:string) AnnotationAssertion( "NCI:C27147"^^xsd:string) AnnotationAssertion( "ORDO:65279"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060184"^^xsd:string) AnnotationAssertion(rdfs:label "lymphocytic colitis"^^xsd:string) SubClassOf( ) # Class: (Clostridium difficile colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clostridium_difficile_colitis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm"^^xsd:string) "A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001314"^^xsd:string) AnnotationAssertion( "ICD10CM:A04.7"^^xsd:string) AnnotationAssertion( "MESH:D004761"^^xsd:string) AnnotationAssertion( "NCI:C128347"^^xsd:string) AnnotationAssertion( "antibiotic associated colitis"^^xsd:string) AnnotationAssertion( "clostridium enterocolitis"^^xsd:string) AnnotationAssertion( "pseudomembranous colitis"^^xsd:string) AnnotationAssertion( "pseudomembranous enteritis"^^xsd:string) AnnotationAssertion( "pseudomembranous enterocolitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060185"^^xsd:string) AnnotationAssertion(rdfs:label "Clostridium difficile colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chemical colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chemical_colitis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18209577"^^xsd:string) "A colitis caused_by introduction of various chemicals. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K52"^^xsd:string) AnnotationAssertion( "ICD9CM:558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060186"^^xsd:string) AnnotationAssertion(rdfs:label "chemical colitis"^^xsd:string) SubClassOf( ) # Class: (diversion colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diversion_colitis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1916483"^^xsd:string) "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060187"^^xsd:string) AnnotationAssertion(rdfs:label "diversion colitis"^^xsd:string) SubClassOf( ) # Class: (jejunoileitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) Annotation( "https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15973125"^^xsd:string) "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K50.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060188"^^xsd:string) AnnotationAssertion(rdfs:label "jejunoileitis"^^xsd:string) SubClassOf( ) # Class: (ileitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ileitis"^^xsd:string) Annotation( "https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007079"^^xsd:string) AnnotationAssertion( "NCI:C84782"^^xsd:string) AnnotationAssertion( "Crohn's ileitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060189"^^xsd:string) AnnotationAssertion(rdfs:label "ileitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ileocolitis) AnnotationAssertion(Annotation( "https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005624"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060190"^^xsd:string) AnnotationAssertion(rdfs:label "ileocolitis"^^xsd:string) SubClassOf( ) # Class: (gastroduodenal Crohn's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) Annotation( "https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12769447"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "upper GI Crohn's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060191"^^xsd:string) AnnotationAssertion(rdfs:label "gastroduodenal Crohn's disease"^^xsd:string) SubClassOf( ) # Class: (Crohn's colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Crohn%27s_disease"^^xsd:string) Annotation( "https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview"^^xsd:string) "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005622"^^xsd:string) AnnotationAssertion( "ICD10CM:K50.1"^^xsd:string) AnnotationAssertion( "ICD9CM:555.1"^^xsd:string) AnnotationAssertion( "NCI:C35211"^^xsd:string) AnnotationAssertion( "NCI:C37262"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060192"^^xsd:string) AnnotationAssertion(rdfs:label "Crohn's colitis"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 1) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105400"^^xsd:string) AnnotationAssertion( "MESH:C531617"^^xsd:string) AnnotationAssertion( "NCI:C168749"^^xsd:string) AnnotationAssertion( "ALS1"^^xsd:string) AnnotationAssertion( "FALS"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, familial"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, familial"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, autosomal dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, dominant"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, sporadic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NEFH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DOID:0060193"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (juvenile amyotrophic lateral sclerosis 2) AnnotationAssertion(Annotation( "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "url:http://omim.org/entry/205100"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)"^^xsd:string) AnnotationAssertion( "ALSJ"^^xsd:string) AnnotationAssertion( "juvenile ALS"^^xsd:string) AnnotationAssertion( "GARD:9470"^^xsd:string) AnnotationAssertion( "MESH:C565957"^^xsd:string) AnnotationAssertion( "MIM:205100"^^xsd:string) AnnotationAssertion( "MONDO:0008780"^^xsd:string) AnnotationAssertion( "ALS2"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 2"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALS2-related spectrum disorders"^^xsd:string) AnnotationAssertion( "DOID:0060194"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile amyotrophic lateral sclerosis 2"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 3) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/606640"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10501"^^xsd:string) AnnotationAssertion( "MESH:C564688"^^xsd:string) AnnotationAssertion( "MIM:606640"^^xsd:string) AnnotationAssertion( "MONDO:0011691"^^xsd:string) AnnotationAssertion( "ALS3"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060195"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 3"^^xsd:string) SubClassOf( ) # Class: (juvenile amyotrophic lateral sclerosis 4) AnnotationAssertion(Annotation( "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "url:http://omim.org/entry/602433"^^xsd:string) "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602433"^^xsd:string) AnnotationAssertion( "SETX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETX-related disorder"^^xsd:string) AnnotationAssertion( "SETX-related disorders"^^xsd:string) AnnotationAssertion( "GARD:10502"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.2"^^xsd:string) AnnotationAssertion( "MESH:C566550"^^xsd:string) AnnotationAssertion( "ORDO:357043"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:602433"^^xsd:string) "ALS 4"^^xsd:string) AnnotationAssertion( "ALS4"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 4"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 4"^^xsd:string) AnnotationAssertion(Annotation( "ORDO:357043"^^xsd:string) "dHMN with upper motor neuron signs"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy with pyramidal features"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:602433"^^xsd:string) "distal hereditary motor neuropathy with pyramidal features"^^xsd:string) AnnotationAssertion(Annotation( "ORDO:357043"^^xsd:string) "distal hereditary motor neuropathy with upper motor neuron signs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060196"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile amyotrophic lateral sclerosis 4"^^xsd:string) SubClassOf( ) # Class: (juvenile amyotrophic lateral sclerosis 5) AnnotationAssertion(Annotation( "url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "url:http://omim.org/entry/602099"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602099"^^xsd:string) AnnotationAssertion( "GARD:10503"^^xsd:string) AnnotationAssertion( "MESH:C566576"^^xsd:string) AnnotationAssertion( "ALS5"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 5"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060197"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile amyotrophic lateral sclerosis 5"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 6) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/608030"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567699"^^xsd:string) AnnotationAssertion( "MIM:608030"^^xsd:string) AnnotationAssertion( "FUS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9874"^^xsd:string) AnnotationAssertion( "MESH:C538251"^^xsd:string) AnnotationAssertion( "NCI:C168750"^^xsd:string) AnnotationAssertion( "ALS6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "autosomal recessive amyotrophic lateral sclerosis 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060198"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 7) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/608031"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10500"^^xsd:string) AnnotationAssertion( "MESH:C564300"^^xsd:string) AnnotationAssertion( "MIM:608031"^^xsd:string) AnnotationAssertion( "MONDO:0011952"^^xsd:string) AnnotationAssertion( "ALS7"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060199"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 7"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 9) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/611895"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO)"^^xsd:string) AnnotationAssertion( "ANG-related condition"^^xsd:string) AnnotationAssertion( "GARD:10498"^^xsd:string) AnnotationAssertion( "MESH:C567499"^^xsd:string) AnnotationAssertion( "MIM:611895"^^xsd:string) AnnotationAssertion( "MONDO:0012753"^^xsd:string) AnnotationAssertion( "ALS9"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060200"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 9"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 10) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/612069"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "TARDBP-related condition"^^xsd:string) AnnotationAssertion( "GARD:10497"^^xsd:string) AnnotationAssertion( "MESH:C567429"^^xsd:string) AnnotationAssertion( "MIM:612069"^^xsd:string) AnnotationAssertion( "MONDO:0012790"^^xsd:string) AnnotationAssertion( "NCI:C168752"^^xsd:string) AnnotationAssertion( "ALS10"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED"^^xsd:string) AnnotationAssertion( "FTLD-TDP, TARDBP-related"^^xsd:string) AnnotationAssertion( "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions"^^xsd:string) AnnotationAssertion( "DOID:0060201"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 10"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 11) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/612577"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612577"^^xsd:string) AnnotationAssertion( "GARD:10496"^^xsd:string) AnnotationAssertion( "MESH:C567244"^^xsd:string) AnnotationAssertion( "NCI:C168753"^^xsd:string) AnnotationAssertion( "ALS11"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060202"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 11"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 12) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/613435"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613435"^^xsd:string) AnnotationAssertion( "ALS12"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 12"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060203"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 12"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 13) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/183090"^^xsd:string) "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004682"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:183090"^^xsd:string) "ALS13"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:183090"^^xsd:string) "amyotrophic lateral sclerosis 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060204"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 13"^^xsd:string) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 6) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/613954"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613954"^^xsd:string) AnnotationAssertion( "NCI:C168754"^^xsd:string) AnnotationAssertion( "ALS14"^^xsd:string) AnnotationAssertion( "FTDALS6"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14 without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 14, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 14"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060205"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 6"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 15) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/300857"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300857"^^xsd:string) AnnotationAssertion( "ALS15"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 15"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060206"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 16) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/614373"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614373"^^xsd:string) AnnotationAssertion( "MONDO:0013715"^^xsd:string) AnnotationAssertion( "ALS16"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060207"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 16"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (amyotrophic lateral sclerosis type 18) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/614808"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614808"^^xsd:string) AnnotationAssertion( "ALS18"^^xsd:string) AnnotationAssertion( "PFN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060209"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 18"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 19) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/615515"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000975"^^xsd:string) AnnotationAssertion( "MIM:615515"^^xsd:string) AnnotationAssertion( "ALS19"^^xsd:string) AnnotationAssertion( "ERBB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060210"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 19"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 20) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://omim.org/entry/615426"^^xsd:string) "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000807"^^xsd:string) AnnotationAssertion( "MIM:615426"^^xsd:string) AnnotationAssertion( "ALS20"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060211"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 20"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 21) AnnotationAssertion(Annotation( "http://omim.org/entry/606070"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606070"^^xsd:string) AnnotationAssertion( "MESH:C565262"^^xsd:string) AnnotationAssertion( "NCI:C168755"^^xsd:string) AnnotationAssertion( "ALS21"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 21"^^xsd:string) AnnotationAssertion( "Distal Myopathy with Vocal Cord Weakness"^^xsd:string) AnnotationAssertion( "Matrin 3 Distal Myopathy"^^xsd:string) AnnotationAssertion( "Mpd2"^^xsd:string) AnnotationAssertion( "Myopathia Distalis Type 2"^^xsd:string) AnnotationAssertion( "VCPDM"^^xsd:string) AnnotationAssertion( "amyotropic lateral sclerosis 21"^^xsd:string) AnnotationAssertion( "distal myopathy 2"^^xsd:string) AnnotationAssertion( "distal myopathy with vocal cord and pharyngeal signs"^^xsd:string) AnnotationAssertion( "vocal cord and pharyngeal dysfunction with distal myopathy"^^xsd:string) AnnotationAssertion( "vocal cord and pharyngeal weakness with distal myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060212"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 21"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 1) AnnotationAssertion(Annotation( "http://omim.org/entry/105550"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105550"^^xsd:string) AnnotationAssertion( "MESH:C566288"^^xsd:string) AnnotationAssertion( "NCI:C168756"^^xsd:string) AnnotationAssertion( "FTDALS1"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis and/or frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060213"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 1"^^xsd:string) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 2) AnnotationAssertion(Annotation( "http://omim.org/entry/615911"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24934289"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615911"^^xsd:string) AnnotationAssertion( "FTDALS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060214"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 2"^^xsd:string) SubClassOf( ) # Class: (Balo concentric sclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Balo_concentric_sclerosis"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32140322/"^^xsd:string) Annotation( "https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/"^^xsd:string) "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5885"^^xsd:string) AnnotationAssertion( "ICD10CM:G37.0"^^xsd:string) AnnotationAssertion( "ICD9CM:341.1"^^xsd:string) AnnotationAssertion( "NCI:C84670"^^xsd:string) AnnotationAssertion( "Balo disease"^^xsd:string) AnnotationAssertion( "Balo's concentric sclerosis"^^xsd:string) AnnotationAssertion( "Tumefactive multiple sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060215"^^xsd:string) AnnotationAssertion(rdfs:label "Balo concentric sclerosis"^^xsd:string) SubClassOf( ) # Class: (Cogan syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cogan_syndrome"^^xsd:string) "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1421"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.32"^^xsd:string) AnnotationAssertion( "MESH:D055952"^^xsd:string) AnnotationAssertion( "ORDO:1467"^^xsd:string) AnnotationAssertion( "Cogan's Syndrome"^^xsd:string) AnnotationAssertion( "Cogans Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "diffuse interstitual keratitis"^^xsd:string) AnnotationAssertion( "DOID:0060216"^^xsd:string) AnnotationAssertion(rdfs:label "Cogan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cogan-Reese syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1"^^xsd:string) "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6125"^^xsd:string) AnnotationAssertion( "NCI:C84644"^^xsd:string) AnnotationAssertion( "ORDO:98980"^^xsd:string) AnnotationAssertion( "RDO:9003134"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060217"^^xsd:string) AnnotationAssertion(rdfs:label "Cogan-Reese syndrome"^^xsd:string) SubClassOf( ) # Class: (CREST syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/CREST_syndrome"^^xsd:string) "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12430"^^xsd:string) AnnotationAssertion( "ICD10CM:M34.1"^^xsd:string) AnnotationAssertion( "MESH:D017675"^^xsd:string) AnnotationAssertion( "NCI:C70646"^^xsd:string) AnnotationAssertion( "CREST syndromes"^^xsd:string) AnnotationAssertion( "CRST Syndrome"^^xsd:string) AnnotationAssertion( "CRST syndromes"^^xsd:string) AnnotationAssertion( "Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia"^^xsd:string) AnnotationAssertion( "Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060218"^^xsd:string) AnnotationAssertion(rdfs:label "CREST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymph node adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/"^^xsd:string) "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "lymph node adenoid cystic cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060219"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (physical urticaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Physical_urticaria"^^xsd:string) Annotation( "http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string) "An urticaria induced by external physical influences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000754"^^xsd:string) AnnotationAssertion( "EFO:1001871"^^xsd:string) AnnotationAssertion( "EFO:1001881"^^xsd:string) AnnotationAssertion( "RDO:9003995"^^xsd:string) AnnotationAssertion( "acquired cold urticaria"^^xsd:string) AnnotationAssertion( "cold urticaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060220"^^xsd:string) AnnotationAssertion(rdfs:label "physical urticaria"^^xsd:string) SubClassOf( ) # Class: (Maffucci syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maffucci_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/maffucci-syndrome"^^xsd:string) "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003248"^^xsd:string) AnnotationAssertion( "GARD:6958"^^xsd:string) AnnotationAssertion( "MIM:614569"^^xsd:string) AnnotationAssertion( "ORDO:163634"^^xsd:string) AnnotationAssertion( "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060221"^^xsd:string) AnnotationAssertion(rdfs:label "Maffucci syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Scheie syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scheie_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12561"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.0"^^xsd:string) AnnotationAssertion( "MIM:607016"^^xsd:string) AnnotationAssertion( "NCI:C61265"^^xsd:string) AnnotationAssertion( "ORDO:93474"^^xsd:string) AnnotationAssertion( "MPS V"^^xsd:string) AnnotationAssertion( "MPS1-S"^^xsd:string) AnnotationAssertion( "MPS5"^^xsd:string) AnnotationAssertion( "Scheie's syndrome"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis 5"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis I S"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis Is"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 1S"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IS"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060222"^^xsd:string) AnnotationAssertion(rdfs:label "Scheie syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agraphia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agraphia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21507544"^^xsd:string) "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000381"^^xsd:string) AnnotationAssertion( "Acquired Agraphia"^^xsd:string) AnnotationAssertion( "Acquired Dysgraphia"^^xsd:string) AnnotationAssertion( "Agraphias"^^xsd:string) AnnotationAssertion( "Constructional Agraphia"^^xsd:string) AnnotationAssertion( "Developmental Agraphia"^^xsd:string) AnnotationAssertion( "Developmental Agraphias"^^xsd:string) AnnotationAssertion( "Developmental Dysgraphia"^^xsd:string) AnnotationAssertion( "acquired agraphias"^^xsd:string) AnnotationAssertion( "acquired dysgraphias"^^xsd:string) AnnotationAssertion( "constructional agraphias"^^xsd:string) AnnotationAssertion( "developmental dysgraphias"^^xsd:string) AnnotationAssertion( "pure agraphia"^^xsd:string) AnnotationAssertion( "pure agraphias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060223"^^xsd:string) AnnotationAssertion(rdfs:label "agraphia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial fibrillation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atrial_fibrillation"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/af"^^xsd:string) "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000275"^^xsd:string) AnnotationAssertion( "ICD9CM:427.31"^^xsd:string) AnnotationAssertion( "MESH:D001281"^^xsd:string) AnnotationAssertion( "NCI:C50466"^^xsd:string) AnnotationAssertion( "A-fib"^^xsd:string) AnnotationAssertion( "AFib"^^xsd:string) AnnotationAssertion( "atrial fibrillations"^^xsd:string) AnnotationAssertion( "auricular fibrillation"^^xsd:string) AnnotationAssertion( "auricular fibrillations"^^xsd:string) AnnotationAssertion( "persistent atrial fibrillation"^^xsd:string) AnnotationAssertion( "persistent atrial fibrillations"^^xsd:string) AnnotationAssertion( "ATRIAL FIBRILLATION, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atrial fibrillation, association with"^^xsd:string) AnnotationAssertion( "DOID:0060224"^^xsd:string) AnnotationAssertion(rdfs:label "atrial fibrillation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16096999"^^xsd:string) "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1118"^^xsd:string) AnnotationAssertion( "MIM:PS257920"^^xsd:string) AnnotationAssertion( "ORDO:293843"^^xsd:string) AnnotationAssertion( "Malpuech-Michels-Mingarelli-Carnevale syndrome"^^xsd:string) AnnotationAssertion( "craniofacial-ulnar-renal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060225"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofrontofacionasal dysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2986457"^^xsd:string) "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201180"^^xsd:string) AnnotationAssertion( "RDO:0004129"^^xsd:string) AnnotationAssertion( "MESH:C538186"^^xsd:string) AnnotationAssertion( "ORDO:1784"^^xsd:string) AnnotationAssertion( "AFFN dysostosis"^^xsd:string) AnnotationAssertion( "Acrofrontofacionasal Dysostosis Syndrome"^^xsd:string) AnnotationAssertion( "Richieri-Costa-Colletto syndrome"^^xsd:string) AnnotationAssertion( "acro fronto facio nasal dysostosis"^^xsd:string) AnnotationAssertion( "acrofrontofacionasal dysostosis 1"^^xsd:string) AnnotationAssertion( "cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly"^^xsd:string) AnnotationAssertion( "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060226"^^xsd:string) AnnotationAssertion(rdfs:label "acrofrontofacionasal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adams-Oliver syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18000904"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract"^^xsd:string) "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5739"^^xsd:string) AnnotationAssertion( "MESH:C538225"^^xsd:string) AnnotationAssertion( "MIM:PS100300"^^xsd:string) AnnotationAssertion( "ORDO:974"^^xsd:string) AnnotationAssertion( "AOS"^^xsd:string) AnnotationAssertion( "absence defect of limbs, scalp, and skull"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita with terminal transverse limb defects"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita, congenital heart defect, and frontonasal cysts"^^xsd:string) AnnotationAssertion( "aplasia cutis of the scalp"^^xsd:string) AnnotationAssertion( "congenital defect of skull and scalp"^^xsd:string) AnnotationAssertion( "congenital scalp defect"^^xsd:string) AnnotationAssertion( "congenital scalp defects with distal limb reduction anomalies"^^xsd:string) AnnotationAssertion( "familial aplasia cutis congenita of the scalp"^^xsd:string) AnnotationAssertion( "scalp and head syndrome"^^xsd:string) AnnotationAssertion( "scalp defects with ectrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060227"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms"^^xsd:string) Annotation( "http://radiopaedia.org/articles/saccular-cerebral-aneurysm"^^xsd:string) "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS105800"^^xsd:string) AnnotationAssertion( "ORDO:231160"^^xsd:string) AnnotationAssertion( "familial aneurysmal subarachnoid hemorrhage"^^xsd:string) AnnotationAssertion( "familial berry aneurysm"^^xsd:string) AnnotationAssertion( "familial intracranial saccular aneurysm"^^xsd:string) AnnotationAssertion( "saccular cerebral aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060228"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm"^^xsd:string) SubClassOf( ) # Class: (Baraitser-Winter syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome"^^xsd:string) "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5279"^^xsd:string) AnnotationAssertion( "MESH:C563904"^^xsd:string) AnnotationAssertion( "MESH:C565258"^^xsd:string) AnnotationAssertion( "MIM:PS243310"^^xsd:string) AnnotationAssertion( "ORDO:2995"^^xsd:string) AnnotationAssertion( "Fryns-Aftimos Syndrome"^^xsd:string) AnnotationAssertion( "cerebrofrontofacial syndrome"^^xsd:string) AnnotationAssertion( "cerebrooculofacial lymphatic syndrome"^^xsd:string) AnnotationAssertion( "mental retardation with epilepsy and characteristic facies"^^xsd:string) AnnotationAssertion( "pachygyria, mental retardation, epilepsy, and characteristic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060229"^^xsd:string) AnnotationAssertion(rdfs:label "Baraitser-Winter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basal ganglia calcification) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fahr%27s_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract"^^xsd:string) "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS213600"^^xsd:string) AnnotationAssertion( "NCI:C129973"^^xsd:string) AnnotationAssertion( "RDO:9004937"^^xsd:string) AnnotationAssertion( "Fahr disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060230"^^xsd:string) AnnotationAssertion(rdfs:label "basal ganglia calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bruck syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bruck_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9129737"^^xsd:string) "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M21.8"^^xsd:string) AnnotationAssertion( "ORDO:2771"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with congenital joint contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060231"^^xsd:string) AnnotationAssertion(rdfs:label "Bruck syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (branchiootic syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22901925"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract"^^xsd:string) "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10148"^^xsd:string) AnnotationAssertion( "MESH:C537104"^^xsd:string) AnnotationAssertion( "ORDO:52429"^^xsd:string) AnnotationAssertion( "BO syndrome"^^xsd:string) AnnotationAssertion( "BOR"^^xsd:string) AnnotationAssertion( "Branchiootic dysplasia"^^xsd:string) AnnotationAssertion( "INNER EAR MALFORMATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060232"^^xsd:string) AnnotationAssertion(rdfs:label "branchiootic syndrome"^^xsd:string) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract"^^xsd:string) "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9146"^^xsd:string) AnnotationAssertion( "MESH:C535579"^^xsd:string) AnnotationAssertion( "MIM:PS115150"^^xsd:string) AnnotationAssertion( "NCI:C84617"^^xsd:string) AnnotationAssertion( "ORDO:1340"^^xsd:string) AnnotationAssertion( "CFC syndrome"^^xsd:string) AnnotationAssertion( "CFCS"^^xsd:string) AnnotationAssertion( "cardio-facial-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "cardio-facio-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060233"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carpenter syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carpenter_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carpenter-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract"^^xsd:string) "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6003"^^xsd:string) AnnotationAssertion( "MESH:C563187"^^xsd:string) AnnotationAssertion( "MIM:PS201000"^^xsd:string) AnnotationAssertion( "NCI:C98873"^^xsd:string) AnnotationAssertion( "ORDO:65759"^^xsd:string) AnnotationAssertion( "ACPS 2"^^xsd:string) AnnotationAssertion( "ACPS II"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type 2"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060234"^^xsd:string) AnnotationAssertion(rdfs:label "Carpenter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carnitine palmitoyltransferase II deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency"^^xsd:string) "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0000806"^^xsd:string) AnnotationAssertion( "CARNITINE DEFICIENCY"^^xsd:string) AnnotationAssertion( "MESH:C535589"^^xsd:string) AnnotationAssertion( "NCI:C114766"^^xsd:string) AnnotationAssertion( "ORDO:157"^^xsd:string) AnnotationAssertion( "CPT II deficiency"^^xsd:string) AnnotationAssertion( "CPT-II"^^xsd:string) AnnotationAssertion( "CPT2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyl transferase 2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase deficiency type 2"^^xsd:string) AnnotationAssertion( "infantile carnitine palmitoyltransferase II deficiency"^^xsd:string) AnnotationAssertion( "lethal neonatal carnitine palmitoyltransferase II deficiency"^^xsd:string) AnnotationAssertion( "muscle form of carnitine palmitoyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060235"^^xsd:string) AnnotationAssertion(rdfs:label "carnitine palmitoyltransferase II deficiency"^^xsd:string) SubClassOf( ) # Class: (xanthinuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Xanthinuria"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4369449"^^xsd:string) "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS278300"^^xsd:string) AnnotationAssertion( "ORDO:3467"^^xsd:string) AnnotationAssertion( "XDH deficiency"^^xsd:string) AnnotationAssertion( "classic xanthinuria"^^xsd:string) AnnotationAssertion( "deficiency of xanthine oxidase"^^xsd:string) AnnotationAssertion( "hereditary xanthinuria"^^xsd:string) AnnotationAssertion( "xanthine dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "xanthine oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060236"^^xsd:string) AnnotationAssertion(rdfs:label "xanthinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Warburg micro syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Micro_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22768674"^^xsd:string) "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001970"^^xsd:string) AnnotationAssertion( "MESH:C536681"^^xsd:string) AnnotationAssertion( "MIM:PS600118"^^xsd:string) AnnotationAssertion( "ORDO:2510"^^xsd:string) AnnotationAssertion( "WARBM"^^xsd:string) AnnotationAssertion( "Warburg Sjo Fledelius syndrome"^^xsd:string) AnnotationAssertion( "micro syndrome"^^xsd:string) AnnotationAssertion( "polyneuropathy, ocular abnormalities and neuronal vacuolation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060237"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van Maldergem syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1633641"^^xsd:string) "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5456"^^xsd:string) AnnotationAssertion( "MESH:C536530"^^xsd:string) AnnotationAssertion( "MIM:PS601390"^^xsd:string) AnnotationAssertion( "ORDO:314679"^^xsd:string) AnnotationAssertion( "Cerebro-facio-articular syndrome of Van Maldergem"^^xsd:string) AnnotationAssertion( "Cerebrofacioarticular syndrome"^^xsd:string) AnnotationAssertion( "Van Maldergem Wetzburger Verloes syndrome"^^xsd:string) AnnotationAssertion( "cerebro-facio-articular syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060238"^^xsd:string) AnnotationAssertion(rdfs:label "Van Maldergem syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van der Woude syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Van_der_Woude_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome"^^xsd:string) "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119300"^^xsd:string) AnnotationAssertion( "GARD:8414"^^xsd:string) AnnotationAssertion( "ICD10CM:Q38.0"^^xsd:string) AnnotationAssertion( "MESH:C536528"^^xsd:string) AnnotationAssertion( "NCI:C74986"^^xsd:string) AnnotationAssertion( "ORDO:888"^^xsd:string) AnnotationAssertion( "Cleft lip and-or palate with mucous cysts of lower lip"^^xsd:string) AnnotationAssertion( "LPS"^^xsd:string) AnnotationAssertion( "Lip pit syndrome"^^xsd:string) AnnotationAssertion( "PIT"^^xsd:string) AnnotationAssertion( "VAN DER WOUDE SYNDROME 1"^^xsd:string) AnnotationAssertion( "VDWS"^^xsd:string) AnnotationAssertion( "VWS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060239"^^xsd:string) AnnotationAssertion(rdfs:label "Van der Woude syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (UV-sensitive syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/UV-sensitive_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome"^^xsd:string) "A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563466"^^xsd:string) AnnotationAssertion( "MIM:PS600630"^^xsd:string) AnnotationAssertion( "ORDO:178338"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060240"^^xsd:string) AnnotationAssertion(rdfs:label "UV-sensitive syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-M syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/3-M_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/3-m-syndrome"^^xsd:string) "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5667"^^xsd:string) AnnotationAssertion( "MESH:C535314"^^xsd:string) AnnotationAssertion( "MIM:PS273750"^^xsd:string) AnnotationAssertion( "ORDO:2616"^^xsd:string) AnnotationAssertion( "3M syndrome"^^xsd:string) AnnotationAssertion( "Gloomy Face Syndrome"^^xsd:string) AnnotationAssertion( "Le Merrer syndrome"^^xsd:string) AnnotationAssertion( "Miller-McKusick-Malvaux syndrome"^^xsd:string) AnnotationAssertion( "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)"^^xsd:string) AnnotationAssertion( "Three-M Slender-Boned Nanism"^^xsd:string) AnnotationAssertion( "Yakut short stature syndrome"^^xsd:string) AnnotationAssertion( "dolichospondylic dysplasia"^^xsd:string) AnnotationAssertion( "three-M syndrome"^^xsd:string) AnnotationAssertion( "GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060241"^^xsd:string) AnnotationAssertion(rdfs:label "3-M syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (synpolydactyly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Synpolydactyly"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18177473"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8817328"^^xsd:string) "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5087"^^xsd:string) AnnotationAssertion( "NCI:C75003"^^xsd:string) AnnotationAssertion( "ORDO:295195"^^xsd:string) AnnotationAssertion( "ORDO:93403"^^xsd:string) AnnotationAssertion( "syndactyly type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060242"^^xsd:string) AnnotationAssertion(rdfs:label "synpolydactyly"^^xsd:string) SubClassOf( ) # Class: (stuttering) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stuttering"^^xsd:string) Annotation( "http://www.asha.org/public/speech/disorders/stuttering.htm"^^xsd:string) Annotation( "http://www.merriam-webster.com/dictionary/stutter"^^xsd:string) "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F80.81"^^xsd:string) AnnotationAssertion( "MESH:D013342"^^xsd:string) AnnotationAssertion( "MIM:PS184450"^^xsd:string) AnnotationAssertion( "NCI:C35043"^^xsd:string) AnnotationAssertion( "acquired stuttering"^^xsd:string) AnnotationAssertion( "adult stuttering"^^xsd:string) AnnotationAssertion( "childhood stuttering"^^xsd:string) AnnotationAssertion( "developmental stuttering"^^xsd:string) AnnotationAssertion( "familial persistent stuttering"^^xsd:string) AnnotationAssertion( "stammering"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060243"^^xsd:string) AnnotationAssertion(rdfs:label "stuttering"^^xsd:string) SubClassOf( ) # Class: (specific language impairment) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Specific_language_impairment"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19646677"^^xsd:string) "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001510"^^xsd:string) AnnotationAssertion( "MESH:D000080888"^^xsd:string) AnnotationAssertion( "MIM:PS606711"^^xsd:string) AnnotationAssertion( "specific language disorder"^^xsd:string) AnnotationAssertion( "specific language disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060244"^^xsd:string) AnnotationAssertion(rdfs:label "specific language impairment"^^xsd:string) SubClassOf( ) # Class: (MAST syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/gene/SPG21"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6024251"^^xsd:string) "A hereditary spastic paraplegia associated with dementia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:248900"^^xsd:string) AnnotationAssertion( "MESH:C565409"^^xsd:string) AnnotationAssertion( "ORDO:101001"^^xsd:string) AnnotationAssertion( "SPG21"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 21"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 21"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060245"^^xsd:string) AnnotationAssertion(rdfs:label "MAST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MASA syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/MASA_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/l1-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract"^^xsd:string) "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO)"^^xsd:string) AnnotationAssertion( "MIM:303350"^^xsd:string) AnnotationAssertion( "GARD:6986"^^xsd:string) AnnotationAssertion( "MESH:C536029"^^xsd:string) AnnotationAssertion( "NCI:C129930"^^xsd:string) AnnotationAssertion( "ORDO:2466"^^xsd:string) AnnotationAssertion( "Crash syndrome"^^xsd:string) AnnotationAssertion( "Gareis-Mason syndrome"^^xsd:string) AnnotationAssertion( "L1 syndrome"^^xsd:string) AnnotationAssertion( "MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome"^^xsd:string) AnnotationAssertion( "Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)"^^xsd:string) AnnotationAssertion( "Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs"^^xsd:string) AnnotationAssertion( "SPASTIC PARAPLEGIA 1, X-LINKED"^^xsd:string) AnnotationAssertion( "Spastic paraplegia, type 1"^^xsd:string) AnnotationAssertion( "Spg1"^^xsd:string) AnnotationAssertion( "X-linked complicated hereditary spastic paraplegia type 1"^^xsd:string) AnnotationAssertion( "X-linked corpus callosum agenesis"^^xsd:string) AnnotationAssertion( "X-linked hydrocephalus syndrome"^^xsd:string) AnnotationAssertion( "X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas)"^^xsd:string) AnnotationAssertion( "adducted thumb with mental retardation"^^xsd:string) AnnotationAssertion( "clasped thumb and mental retardation"^^xsd:string) AnnotationAssertion( "congenital clasped thumb with mental retardation"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060246"^^xsd:string) AnnotationAssertion(rdfs:label "MASA syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Smith-McCort dysplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1216821"^^xsd:string) "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10620"^^xsd:string) AnnotationAssertion( "MESH:C564589"^^xsd:string) AnnotationAssertion( "MIM:PS607326"^^xsd:string) AnnotationAssertion( "ORDO:178355"^^xsd:string) AnnotationAssertion( "SMC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060247"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-McCort dysplasia"^^xsd:string) SubClassOf( ) # Class: (Simpson-Golabi-Behmel syndrome type 1) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36720533/"^^xsd:string) "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312870"^^xsd:string) AnnotationAssertion( "GARD:7649"^^xsd:string) AnnotationAssertion( "MESH:C537340"^^xsd:string) AnnotationAssertion( "NCI:C118787"^^xsd:string) AnnotationAssertion( "ORDO:373"^^xsd:string) AnnotationAssertion( "DGSX"^^xsd:string) AnnotationAssertion( "DGSX Golabi-Rosen syndrome"^^xsd:string) AnnotationAssertion( "Golabi-Rosen syndrome"^^xsd:string) AnnotationAssertion( "SDYS"^^xsd:string) AnnotationAssertion( "SGB syndrome"^^xsd:string) AnnotationAssertion( "SGBS"^^xsd:string) AnnotationAssertion( "SGBS1"^^xsd:string) AnnotationAssertion( "Sara Angers syndrome"^^xsd:string) AnnotationAssertion( "Simpson dysmorphia syndrome"^^xsd:string) AnnotationAssertion( "Simpson dysplasia syndrome"^^xsd:string) AnnotationAssertion( "Simpson syndrome"^^xsd:string) AnnotationAssertion( "Simpson-Golabi-Behmel syndrome"^^xsd:string) AnnotationAssertion( "bulldog syndrome"^^xsd:string) AnnotationAssertion( "dysplasia gigantism syndrome, X-linked"^^xsd:string) AnnotationAssertion( "mental retardation-overgrowth syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060248"^^xsd:string) AnnotationAssertion(rdfs:label "Simpson-Golabi-Behmel syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scoliosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140"^^xsd:string) "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004273"^^xsd:string) AnnotationAssertion( "ICD10CM:M41.9"^^xsd:string) AnnotationAssertion( "MESH:D012600"^^xsd:string) AnnotationAssertion( "MONDO:0005392"^^xsd:string) AnnotationAssertion( "NCI:C78603"^^xsd:string) AnnotationAssertion( "scolioses"^^xsd:string) AnnotationAssertion( "congenital scoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060249"^^xsd:string) AnnotationAssertion(rdfs:label "scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic scoliosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scoliosis"^^xsd:string) "A scoliosis with no known cause. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:181800"^^xsd:string) AnnotationAssertion( "MIM:607354"^^xsd:string) AnnotationAssertion( "MIM:608765"^^xsd:string) AnnotationAssertion( "MIM:612238"^^xsd:string) AnnotationAssertion( "MIM:612239"^^xsd:string) AnnotationAssertion( "EFO:0005423"^^xsd:string) AnnotationAssertion( "GARD:552"^^xsd:string) AnnotationAssertion( "ADOLESCENT IDIOPATHIC SCOLIOSIS"^^xsd:string) AnnotationAssertion( "ADOLESCENT ISOLATED SCOLIOSIS"^^xsd:string) AnnotationAssertion( "AIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IS1"^^xsd:string) AnnotationAssertion( "IS2"^^xsd:string) AnnotationAssertion( "IS3"^^xsd:string) AnnotationAssertion( "IS4"^^xsd:string) AnnotationAssertion( "IS5"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 1"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 2"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 3"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 4"^^xsd:string) AnnotationAssertion( "Isolated Scoliosis, Susceptibility to, 5"^^xsd:string) AnnotationAssertion( "idiopathic scoliosis, 3"^^xsd:string) AnnotationAssertion( "DOID:0060250"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic scoliosis"^^xsd:string) SubClassOf( ) # Class: (sclerosteosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11836356"^^xsd:string) "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0003382"^^xsd:string) AnnotationAssertion( "GARD:4771"^^xsd:string) AnnotationAssertion( "MESH:C537525"^^xsd:string) AnnotationAssertion( "MIM:PS269500"^^xsd:string) AnnotationAssertion( "NCI:C131133"^^xsd:string) AnnotationAssertion( "Cortical hyperostosis with syndactyly"^^xsd:string) AnnotationAssertion( "SOST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060251"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosteosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sclerocornea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sclerocornea"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3994576"^^xsd:string) "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565209"^^xsd:string) AnnotationAssertion( "ORDO:91490"^^xsd:string) AnnotationAssertion( "RDO:0013918"^^xsd:string) AnnotationAssertion( "isolated congenital sclerocornea"^^xsd:string) AnnotationAssertion( "SCLEROCORNEA, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060252"^^xsd:string) AnnotationAssertion(rdfs:label "sclerocornea"^^xsd:string) SubClassOf( ) # Class: (scapuloperoneal myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28179901"^^xsd:string) "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536624"^^xsd:string) AnnotationAssertion( "scapuloperoneal muscular dystrophy"^^xsd:string) AnnotationAssertion( "scapuloperoneal syndrome, myopathic type"^^xsd:string) AnnotationAssertion( "MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060253"^^xsd:string) AnnotationAssertion(rdfs:label "scapuloperoneal myopathy"^^xsd:string) SubClassOf( ) # Class: (Robinow syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Robinow_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/robinow-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract"^^xsd:string) "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0012199"^^xsd:string) AnnotationAssertion( "GARD:312"^^xsd:string) AnnotationAssertion( "MESH:C562492"^^xsd:string) AnnotationAssertion( "MIM:PS268310"^^xsd:string) AnnotationAssertion( "NCI:C85048"^^xsd:string) AnnotationAssertion( "Robinow dwarfism"^^xsd:string) AnnotationAssertion( "Robinow-Silverman-Smith syndrome"^^xsd:string) AnnotationAssertion( "acral dysostosis with facial and genital abnormalities"^^xsd:string) AnnotationAssertion( "autosomal dominant Robinow syndrome"^^xsd:string) AnnotationAssertion( "fetal face syndrome"^^xsd:string) AnnotationAssertion( "mesomelic dwarfism-small genitalia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060254"^^xsd:string) AnnotationAssertion(rdfs:label "Robinow syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rippling muscle disease 2) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/rippling-muscle-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9537420"^^xsd:string) "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110302"^^xsd:string) AnnotationAssertion( "MIM:606072"^^xsd:string) AnnotationAssertion( "GARD:9164"^^xsd:string) AnnotationAssertion( "MESH:C563362"^^xsd:string) AnnotationAssertion( "NCI:C148318"^^xsd:string) AnnotationAssertion( "NCI:C148325"^^xsd:string) AnnotationAssertion( "ORDO:265"^^xsd:string) AnnotationAssertion( "ORDO:97238"^^xsd:string) AnnotationAssertion( "LGMD1C"^^xsd:string) AnnotationAssertion( "RMD"^^xsd:string) AnnotationAssertion( "RMD2"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1C"^^xsd:string) AnnotationAssertion( "caveolinopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to caveolin-3 deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 1C"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 1C, autosomal recessive"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type IC"^^xsd:string) AnnotationAssertion( "rippling muscle disease 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060255"^^xsd:string) AnnotationAssertion(rdfs:label "rippling muscle disease 2"^^xsd:string) SubClassOf( ) # Class: (Dowling-Degos disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/dowling-degos-disease"^^xsd:string) "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9775"^^xsd:string) AnnotationAssertion( "MESH:C562924"^^xsd:string) AnnotationAssertion( "MIM:PS179850"^^xsd:string) AnnotationAssertion( "ORDO:79145"^^xsd:string) AnnotationAssertion( "DDD"^^xsd:string) AnnotationAssertion( "Dowling-Degos-Kitamura disease"^^xsd:string) AnnotationAssertion( "RPK"^^xsd:string) AnnotationAssertion( "acropigmentatio reticularis"^^xsd:string) AnnotationAssertion( "dark dot disease"^^xsd:string) AnnotationAssertion( "reticular pigment anomaly of flexures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060256"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dyschromatosis symmetrica hereditaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22974014"^^xsd:string) "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535729"^^xsd:string) AnnotationAssertion( "MIM:127400"^^xsd:string) AnnotationAssertion( "MONDO:0007483"^^xsd:string) AnnotationAssertion( "NCI:C118435"^^xsd:string) AnnotationAssertion( "ORDO:41"^^xsd:string) AnnotationAssertion( "DSH"^^xsd:string) AnnotationAssertion( "DSH1"^^xsd:string) AnnotationAssertion( "Dyschromatosis Symmetrica Hereditaria 1"^^xsd:string) AnnotationAssertion( "Familial reticulate acropigmentation of Dohi"^^xsd:string) AnnotationAssertion( "RAD"^^xsd:string) AnnotationAssertion( "reticulate acropigmentation of Dohi"^^xsd:string) AnnotationAssertion( "symmetric dyschromatosis of the extremities"^^xsd:string) AnnotationAssertion( "symmetrical dyschromatosis of extremities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060257"^^xsd:string) AnnotationAssertion(rdfs:label "dyschromatosis symmetrica hereditaria"^^xsd:string) SubClassOf( ) # Class: (reticulate acropigmentation of Kitamura) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22808308"^^xsd:string) "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615537"^^xsd:string) AnnotationAssertion( "ORDO:178307"^^xsd:string) AnnotationAssertion( "Acropigmentatio Reticularis"^^xsd:string) AnnotationAssertion( "Kitamura Reticulate Acropigmentation"^^xsd:string) AnnotationAssertion( "RAK"^^xsd:string) AnnotationAssertion( "RAPK"^^xsd:string) AnnotationAssertion( "RPK"^^xsd:string) AnnotationAssertion( "Reticulate Pigmentation of Kitamura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060258"^^xsd:string) AnnotationAssertion(rdfs:label "reticulate acropigmentation of Kitamura"^^xsd:string) SubClassOf( ) # Class: (renal-hepatic-pancreatic dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17605805"^^xsd:string) "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C567142"^^xsd:string) AnnotationAssertion( "MIM:PS208540"^^xsd:string) AnnotationAssertion( "ORDO:294415"^^xsd:string) AnnotationAssertion( "Ivemark's syndrome"^^xsd:string) AnnotationAssertion( "RHPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060259"^^xsd:string) AnnotationAssertion(rdfs:label "renal-hepatic-pancreatic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ptosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string) "An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.4"^^xsd:string) AnnotationAssertion( "ICD9CM:374.3"^^xsd:string) AnnotationAssertion( "MESH:D001763"^^xsd:string) AnnotationAssertion( "NCI:C27298"^^xsd:string) AnnotationAssertion( "Eyelid Ptoses"^^xsd:string) AnnotationAssertion( "blepharoptoses"^^xsd:string) AnnotationAssertion( "blepharoptosis"^^xsd:string) AnnotationAssertion( "drooping eyelid"^^xsd:string) AnnotationAssertion( "eyelid ptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060260"^^xsd:string) AnnotationAssertion(rdfs:label "ptosis"^^xsd:string) SubClassOf( ) # Class: (congenital ptosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29"^^xsd:string) Annotation( "https://eyewiki.aao.org/Ptosis,_Congenital"^^xsd:string) "A ptosis characterized by eyelid drop present at birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q10.0"^^xsd:string) AnnotationAssertion( "ICD9CM:743.61"^^xsd:string) AnnotationAssertion( "NCI:C27049"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060261"^^xsd:string) AnnotationAssertion(rdfs:label "congenital ptosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gallbladder_disease"^^xsd:string) Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null"^^xsd:string) "A gastrointestinal system disease that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0002740"^^xsd:string) AnnotationAssertion( "EFO:0003832"^^xsd:string) AnnotationAssertion( "ICD10CM:K82.9"^^xsd:string) AnnotationAssertion( "ICD9CM:575.9"^^xsd:string) AnnotationAssertion( "MESH:D005705"^^xsd:string) AnnotationAssertion( "MIM:PS600803"^^xsd:string) AnnotationAssertion( "NCI:C34631"^^xsd:string) AnnotationAssertion( "Gall Bladder Diseases"^^xsd:string) AnnotationAssertion( "gall bladder disease"^^xsd:string) AnnotationAssertion( "gallbladder diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060262"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder disease"^^xsd:string) SubClassOf( ) # Class: (porencephaly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_softening"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Porencephaly"^^xsd:string) "A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7430"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.6"^^xsd:string) AnnotationAssertion( "MESH:D065708"^^xsd:string) AnnotationAssertion( "ORDO:2940"^^xsd:string) AnnotationAssertion( "ADT1P"^^xsd:string) AnnotationAssertion( "Familial Porencephalic White Matter Disease"^^xsd:string) AnnotationAssertion( "Familial Porencephaly"^^xsd:string) AnnotationAssertion( "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1"^^xsd:string) AnnotationAssertion( "Infantile Hemiplegia with Porencephaly"^^xsd:string) AnnotationAssertion( "POREN1"^^xsd:string) AnnotationAssertion( "T1P"^^xsd:string) AnnotationAssertion( "autosomal dominant porencephaly type 1"^^xsd:string) AnnotationAssertion( "congenital porencephaly"^^xsd:string) AnnotationAssertion( "developmental porencephaly"^^xsd:string) AnnotationAssertion( "encephaloclastic porencephaly"^^xsd:string) AnnotationAssertion( "porencephalies"^^xsd:string) AnnotationAssertion( "porencephaly 1"^^xsd:string) AnnotationAssertion( "porencephaly type 1"^^xsd:string) AnnotationAssertion( "post traumatic porencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060263"^^xsd:string) AnnotationAssertion(rdfs:label "porencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition"^^xsd:string) "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10977"^^xsd:string) AnnotationAssertion( "MESH:C580383"^^xsd:string) AnnotationAssertion( "MIM:PS607596"^^xsd:string) AnnotationAssertion( "PCH"^^xsd:string) AnnotationAssertion( "congenital pontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060264"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1A) AnnotationAssertion(Annotation( "https://www.omim.org/entry/607596"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO)"^^xsd:string) AnnotationAssertion( "CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1"^^xsd:string) AnnotationAssertion( "MIM:607596"^^xsd:string) AnnotationAssertion( "ORDO:2254"^^xsd:string) AnnotationAssertion( "PCH1A"^^xsd:string) AnnotationAssertion( "pontocerebellar hypoplasia with anterior horn cell disease"^^xsd:string) AnnotationAssertion( "pontocerebellar hypoplasia with infantile spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS"^^xsd:string) AnnotationAssertion( "DOID:0060265"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1B) AnnotationAssertion(Annotation( "https://www.omim.org/entry/614678"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO)"^^xsd:string) AnnotationAssertion( "NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "MIM:614678"^^xsd:string) AnnotationAssertion( "NCI:C190872"^^xsd:string) AnnotationAssertion( "PCH1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060266"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2A) AnnotationAssertion(Annotation( "https://www.omim.org/entry/277470"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3631"^^xsd:string) AnnotationAssertion( "MESH:C564738"^^xsd:string) AnnotationAssertion( "MIM:277470"^^xsd:string) AnnotationAssertion( "MONDO:0010190"^^xsd:string) AnnotationAssertion( "PCH2A"^^xsd:string) AnnotationAssertion( "Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy"^^xsd:string) AnnotationAssertion( "Volendam Neurodegenerative Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060267"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2B) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612389"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567325"^^xsd:string) AnnotationAssertion( "MIM:612389"^^xsd:string) AnnotationAssertion( "MONDO:0012890"^^xsd:string) AnnotationAssertion( "PCH2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060268"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2C) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612390"^^xsd:string) "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612390"^^xsd:string) AnnotationAssertion( "MESH:C567324"^^xsd:string) AnnotationAssertion( "PCH2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060269"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2D) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613811"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613811"^^xsd:string) AnnotationAssertion( "ORDO:2524"^^xsd:string) AnnotationAssertion( "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE"^^xsd:string) AnnotationAssertion( "PCCA"^^xsd:string) AnnotationAssertion( "PCH2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060270"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2E) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615851"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615851"^^xsd:string) AnnotationAssertion( "PCH2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060271"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/608027"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608027"^^xsd:string) AnnotationAssertion( "GARD:10708"^^xsd:string) AnnotationAssertion( "MESH:C548072"^^xsd:string) AnnotationAssertion( "ORDO:97249"^^xsd:string) AnnotationAssertion( "CLAM"^^xsd:string) AnnotationAssertion( "PCH with optic atrophy"^^xsd:string) AnnotationAssertion( "PCH3"^^xsd:string) AnnotationAssertion( "PCLO-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebellar atrophy with progressive microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060272"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 3"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/225753"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225753"^^xsd:string) AnnotationAssertion( "GARD:343"^^xsd:string) AnnotationAssertion( "MESH:C536716"^^xsd:string) AnnotationAssertion( "ORDO:166063"^^xsd:string) AnnotationAssertion( "PCH4"^^xsd:string) AnnotationAssertion( "Young McKeever Squier syndrome"^^xsd:string) AnnotationAssertion( "fatal infantile encephalopathy with olivopontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "olivopontocerebellar hypoplasia lethal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060273"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 4"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/610204"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10709"^^xsd:string) AnnotationAssertion( "MESH:C537745"^^xsd:string) AnnotationAssertion( "MIM:610204"^^xsd:string) AnnotationAssertion( "MONDO:0012438"^^xsd:string) AnnotationAssertion( "ORDO:166068"^^xsd:string) AnnotationAssertion( "PCH5"^^xsd:string) AnnotationAssertion( "fetal-onset olivopontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060274"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 5"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 6) AnnotationAssertion(Annotation( "https://www.omim.org/entry/611523"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611523"^^xsd:string) AnnotationAssertion( "GARD:10710"^^xsd:string) AnnotationAssertion( "MESH:C548074"^^xsd:string) AnnotationAssertion( "ORDO:166073"^^xsd:string) AnnotationAssertion( "PCH6"^^xsd:string) AnnotationAssertion( "RARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "fatal infantile encephalopathy with mitochondrial respiratory chain defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060275"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 6"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 7) AnnotationAssertion(Annotation( "MIM:614969"^^xsd:string) Annotation( "https://www.omim.org/entry/614969"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614969"^^xsd:string) AnnotationAssertion( "MONDO:0013993"^^xsd:string) AnnotationAssertion( "ORDO:284339"^^xsd:string) AnnotationAssertion( "PCH7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060276"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 7"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 8) AnnotationAssertion(Annotation( "https://www.omim.org/entry/614961"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614961"^^xsd:string) AnnotationAssertion( "ORDO:324569"^^xsd:string) AnnotationAssertion( "PCH8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060277"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 8"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 9) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615809"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615809"^^xsd:string) AnnotationAssertion( "MONDO:0014351"^^xsd:string) AnnotationAssertion( "ORDO:369920"^^xsd:string) AnnotationAssertion( "PCH9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060278"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 9"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 10) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615803"^^xsd:string) "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001048"^^xsd:string) AnnotationAssertion( "MIM:615803"^^xsd:string) AnnotationAssertion( "ORDO:411493"^^xsd:string) AnnotationAssertion( "PCH10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060279"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 10"^^xsd:string) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2212318"^^xsd:string) "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10906"^^xsd:string) AnnotationAssertion( "MIM:PS610489"^^xsd:string) AnnotationAssertion( "MONDO:0015999"^^xsd:string) AnnotationAssertion( "ORDO:189439"^^xsd:string) AnnotationAssertion( "ORDO:647772"^^xsd:string) AnnotationAssertion( "PPNAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060280"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease"^^xsd:string) SubClassOf( ) # Class: (photosensitive epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Photosensitive_epilepsy"^^xsd:string) "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5648"^^xsd:string) AnnotationAssertion( "MIM:PS132100"^^xsd:string) AnnotationAssertion( "ORDO:166409"^^xsd:string) AnnotationAssertion( "RDO:9004946"^^xsd:string) AnnotationAssertion( "PSE"^^xsd:string) AnnotationAssertion( "photogenic epilepsy"^^xsd:string) AnnotationAssertion( "photoparoxysmal response"^^xsd:string) AnnotationAssertion( "photosensitive epilepsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060281"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (persistent hyperplastic primary vitreous) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous"^^xsd:string) "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054514"^^xsd:string) AnnotationAssertion( "MIM:PS221900"^^xsd:string) AnnotationAssertion( "NCI:C161554"^^xsd:string) AnnotationAssertion( "ORDO:91495"^^xsd:string) AnnotationAssertion( "Persistent Hyaloid Artery"^^xsd:string) AnnotationAssertion( "persistent fetal vasculature syndrome"^^xsd:string) AnnotationAssertion( "persistent hyaloid arteries"^^xsd:string) AnnotationAssertion( "persistent hyaloid vasculature"^^xsd:string) AnnotationAssertion( "persistent hyaloid vasculatures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060282"^^xsd:string) AnnotationAssertion(rdfs:label "persistent hyperplastic primary vitreous"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peeling skin syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/peeling-skin-syndrome/"^^xsd:string) "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7347"^^xsd:string) AnnotationAssertion( "MESH:C564818"^^xsd:string) AnnotationAssertion( "MIM:PS270300"^^xsd:string) AnnotationAssertion( "ORDO:263543"^^xsd:string) AnnotationAssertion( "ORDO:817"^^xsd:string) AnnotationAssertion( "PSS"^^xsd:string) AnnotationAssertion( "deciduous skin"^^xsd:string) AnnotationAssertion( "familial continuous generalized skin peeling"^^xsd:string) AnnotationAssertion( "familial continuous skin peeling syndrome"^^xsd:string) AnnotationAssertion( "keratolysis exfoliativa congenita"^^xsd:string) AnnotationAssertion( "keratosis exfoliativa congenita"^^xsd:string) AnnotationAssertion( "peeling skin disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060283"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paroxysmal nocturnal hemoglobinuria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria"^^xsd:string) "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615749"^^xsd:string) AnnotationAssertion( "C5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7337"^^xsd:string) AnnotationAssertion( "ICD10CM:D59.5"^^xsd:string) AnnotationAssertion( "ICD10CM:D59.6"^^xsd:string) AnnotationAssertion( "MESH:D006457"^^xsd:string) AnnotationAssertion( "MIM:PS300818"^^xsd:string) AnnotationAssertion( "NCI:C61233"^^xsd:string) AnnotationAssertion( "ORDO:447"^^xsd:string) AnnotationAssertion( "Marchiafava Micheli Syndrome"^^xsd:string) AnnotationAssertion( "cold paroxysmal hemoglobinuria"^^xsd:string) AnnotationAssertion( "paroxysmal hemoglobinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ECULIZUMAB, POOR RESPONSE TO"^^xsd:string) AnnotationAssertion( "DOID:0060284"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal nocturnal hemoglobinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parietal foramina) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina"^^xsd:string) "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566826"^^xsd:string) AnnotationAssertion( "MIM:PS168500"^^xsd:string) AnnotationAssertion( "MONDO:0018953"^^xsd:string) AnnotationAssertion( "ORDO:60015"^^xsd:string) AnnotationAssertion( "Caitlin marks"^^xsd:string) AnnotationAssertion( "Catlin marks"^^xsd:string) AnnotationAssertion( "Cranium Bifidum Occultum"^^xsd:string) AnnotationAssertion( "Cranium Bifidum, Hereditary"^^xsd:string) AnnotationAssertion( "Enlarged Parietal Foramina"^^xsd:string) AnnotationAssertion( "FPP"^^xsd:string) AnnotationAssertion( "PFM"^^xsd:string) AnnotationAssertion( "foramina parietalia permagna"^^xsd:string) AnnotationAssertion( "symmetric parietal foramina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060285"^^xsd:string) AnnotationAssertion(rdfs:label "parietal foramina"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency"^^xsd:string) "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12893"^^xsd:string) AnnotationAssertion( "MIM:PS609060"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060286"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency"^^xsd:string) SubClassOf( ) # Class: (cornea plana) AnnotationAssertion(Annotation( "https://disorders.eyes.arizona.edu/handouts/cornea-plana"^^xsd:string) "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS121400"^^xsd:string) AnnotationAssertion( "MONDO:0000733"^^xsd:string) AnnotationAssertion( "ORDO:53691"^^xsd:string) AnnotationAssertion( "flat cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060287"^^xsd:string) AnnotationAssertion(rdfs:label "cornea plana"^^xsd:string) SubClassOf( ) # Class: (omodysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12210345/"^^xsd:string) "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS258315"^^xsd:string) AnnotationAssertion( "ORDO:2733"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060288"^^xsd:string) AnnotationAssertion(rdfs:label "omodysplasia"^^xsd:string) SubClassOf( ) # Class: (Ohdo syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16700052/"^^xsd:string) "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3348"^^xsd:string) AnnotationAssertion( "MESH:C536232"^^xsd:string) AnnotationAssertion( "MESH:C537838"^^xsd:string) AnnotationAssertion( "MIM:249620"^^xsd:string) AnnotationAssertion( "ORDO:2728"^^xsd:string) AnnotationAssertion( "Blepharophimosis Syndrome Ohdo Type"^^xsd:string) AnnotationAssertion( "Ohdo Blepharophimosis syndrome"^^xsd:string) AnnotationAssertion( "Ohdo Madokoro Sonoda syndrome"^^xsd:string) AnnotationAssertion( "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth"^^xsd:string) AnnotationAssertion( "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060289"^^xsd:string) AnnotationAssertion(rdfs:label "Ohdo syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ohdo syndrome, SBBYS variant) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22077973/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes"^^xsd:string) "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603736"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "KAT6B-RELATED SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "KAT6B-RELATED SPECTRUM DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C536717"^^xsd:string) AnnotationAssertion( "ORDO:3047"^^xsd:string) AnnotationAssertion( "BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "Mental retardation unusual facies hypothyroidism"^^xsd:string) AnnotationAssertion( "Ohdo Syndrome, Say-Barber-Biesecker Variant"^^xsd:string) AnnotationAssertion( "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant"^^xsd:string) AnnotationAssertion( "SBBYS variant of Ohdo syndrome"^^xsd:string) AnnotationAssertion( "SBBYSS"^^xsd:string) AnnotationAssertion( "Say-Barber-Biesecker-Young-Simpson Syndrome"^^xsd:string) AnnotationAssertion( "Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome"^^xsd:string) AnnotationAssertion( "YSS"^^xsd:string) AnnotationAssertion( "Young Simpson syndrome"^^xsd:string) AnnotationAssertion( "blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type"^^xsd:string) AnnotationAssertion( "blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type"^^xsd:string) AnnotationAssertion( "blepharophimosis-intellectual disability syndrome, SBBYS type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060290"^^xsd:string) AnnotationAssertion(rdfs:label "Ohdo syndrome, SBBYS variant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculodentodigital dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12021949"^^xsd:string) "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:164200"^^xsd:string) AnnotationAssertion( "GARD:7239"^^xsd:string) AnnotationAssertion( "MESH:C563160"^^xsd:string) AnnotationAssertion( "ORDO:2710"^^xsd:string) AnnotationAssertion( "ODD Syndrome"^^xsd:string) AnnotationAssertion( "ODDD"^^xsd:string) AnnotationAssertion( "ODOD"^^xsd:string) AnnotationAssertion( "Oculo-Dento-Osseous Dysplasia"^^xsd:string) AnnotationAssertion( "Oculodentodigital Syndrome"^^xsd:string) AnnotationAssertion( "Oculodentoosseous Dysplasia"^^xsd:string) AnnotationAssertion( "oculo-dento-digital dysplasia"^^xsd:string) AnnotationAssertion( "osseous-oculo-dental dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060291"^^xsd:string) AnnotationAssertion(rdfs:label "oculodentodigital dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked chondrodysplasia punctata 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata"^^xsd:string) "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:302950"^^xsd:string) AnnotationAssertion( "MIM:602497"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.3"^^xsd:string) AnnotationAssertion( "MESH:C580533"^^xsd:string) AnnotationAssertion( "ORDO:35173"^^xsd:string) AnnotationAssertion( "Brachytelephalangic Chondrodysplasia Punctata"^^xsd:string) AnnotationAssertion( "CDPX1"^^xsd:string) AnnotationAssertion( "CPXR"^^xsd:string) AnnotationAssertion( "X-linked recessive chondrodysplasia punctata 1"^^xsd:string) AnnotationAssertion( "arylsulfatase E deficiency"^^xsd:string) AnnotationAssertion( "chondrodystrophia calcificans congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "brachytelephalangic chondrodysplasia punctata, autosomal"^^xsd:string) AnnotationAssertion( "DOID:0060292"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked chondrodysplasia punctata 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant chondrodysplasia punctata) AnnotationAssertion(Annotation( "https://www.omim.org/entry/118650"^^xsd:string) "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118650"^^xsd:string) AnnotationAssertion( "RDO:0012576"^^xsd:string) AnnotationAssertion( "MESH:C563248"^^xsd:string) AnnotationAssertion( "ORDO:79344"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata due to vitamin K deficiency"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata due to warfarin teratogenicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060293"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant chondrodysplasia punctata"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cold-induced sweating syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome"^^xsd:string) "A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C536214"^^xsd:string) AnnotationAssertion( "MIM:PS272430"^^xsd:string) AnnotationAssertion( "ORDO:157820"^^xsd:string) AnnotationAssertion( "CISS"^^xsd:string) AnnotationAssertion( "CNTF receptor-related disorders"^^xsd:string) AnnotationAssertion( "Crisponi syndrome"^^xsd:string) AnnotationAssertion( "Sohar-Crisponi syndrome"^^xsd:string) AnnotationAssertion( "cold-induced sweating"^^xsd:string) AnnotationAssertion( "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060294"^^xsd:string) AnnotationAssertion(rdfs:label "cold-induced sweating syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (complement component 2 deficiency) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008253"^^xsd:string) AnnotationAssertion( "C2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:1452"^^xsd:string) AnnotationAssertion( "MIM:217000"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "C2D"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY, TYPE I"^^xsd:string) AnnotationAssertion( "C2 DEFICIENCY, TYPE II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060295"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 2 deficiency"^^xsd:string) SubClassOf( ) # Class: (congenital secretory chloride diarrhea 1) AnnotationAssertion(Annotation( "https://omim.org/entry/214700"^^xsd:string) "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214700"^^xsd:string) AnnotationAssertion( "MESH:C536210"^^xsd:string) AnnotationAssertion( "ORDO:53689"^^xsd:string) AnnotationAssertion( "CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE"^^xsd:string) AnnotationAssertion( "DIAR1"^^xsd:string) AnnotationAssertion( "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL"^^xsd:string) AnnotationAssertion( "Darrow-Gamble disease"^^xsd:string) AnnotationAssertion( "SLC26A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhea"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhea, Finnish type"^^xsd:string) AnnotationAssertion( "congenital chloride diarrhoea Finnish type"^^xsd:string) AnnotationAssertion( "congenital chloridorrhea"^^xsd:string) AnnotationAssertion( "congenital secretory chloride diarrhoea 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060296"^^xsd:string) AnnotationAssertion(rdfs:label "congenital secretory chloride diarrhea 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (complement component 4A deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/614380"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614380"^^xsd:string) AnnotationAssertion( "MESH:C565167"^^xsd:string) AnnotationAssertion( "C4A Deficiency"^^xsd:string) AnnotationAssertion( "C4AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060297"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 4A deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 4B deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/614379"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614379"^^xsd:string) AnnotationAssertion( "ORDO:169147"^^xsd:string) AnnotationAssertion( "C4B DEFICIENCY"^^xsd:string) AnnotationAssertion( "C4BD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060298"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 4B deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 6 deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612446"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567307"^^xsd:string) AnnotationAssertion( "MIM:612446"^^xsd:string) AnnotationAssertion( "MONDO:0012908"^^xsd:string) AnnotationAssertion( "C6 Deficiency"^^xsd:string) AnnotationAssertion( "C6D"^^xsd:string) AnnotationAssertion( "C6 deficiency, subtotal"^^xsd:string) AnnotationAssertion( "complement component 6 deficiency, subtotal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060299"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 6 deficiency"^^xsd:string) SubClassOf( ) # Class: (complement component 7 deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/610102"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610102"^^xsd:string) AnnotationAssertion( "MESH:C566443"^^xsd:string) AnnotationAssertion( "ORDO:1695150"^^xsd:string) AnnotationAssertion( "C7 deficiency"^^xsd:string) AnnotationAssertion( "C7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "C7D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060300"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 7 deficiency"^^xsd:string) SubClassOf( ) # Class: (type I complement component 8 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string) "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613790"^^xsd:string) AnnotationAssertion( "C8 ALPHA-GAMMA DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8 deficiency type I"^^xsd:string) AnnotationAssertion( "C8AG DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8D1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "complement component 8, alpha subunit, A/B polymorphism"^^xsd:string) AnnotationAssertion( "DOID:0060301"^^xsd:string) AnnotationAssertion(rdfs:label "type I complement component 8 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (type II complement component 8 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency"^^xsd:string) "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613789"^^xsd:string) AnnotationAssertion( "C8 BETA DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8 deficiency type II"^^xsd:string) AnnotationAssertion( "C8B DEFICIENCY"^^xsd:string) AnnotationAssertion( "C8B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "C8D2"^^xsd:string) AnnotationAssertion( "COMPLEMENT COMPONENT 8B DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060302"^^xsd:string) AnnotationAssertion(rdfs:label "type II complement component 8 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complement component 9 deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613825"^^xsd:string) "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613825"^^xsd:string) AnnotationAssertion( "C9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:D84.1"^^xsd:string) AnnotationAssertion( "MESH:C565165"^^xsd:string) AnnotationAssertion( "ORDO:169150"^^xsd:string) AnnotationAssertion( "C9 deficiency"^^xsd:string) AnnotationAssertion( "C9D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060303"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 9 deficiency"^^xsd:string) SubClassOf( ) # Class: (dyschromatosis universalis hereditaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12372090"^^xsd:string) "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1996"^^xsd:string) AnnotationAssertion( "MESH:C535730"^^xsd:string) AnnotationAssertion( "MIM:PS127500"^^xsd:string) AnnotationAssertion( "NCI:C173131"^^xsd:string) AnnotationAssertion( "ORDO:241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060304"^^xsd:string) AnnotationAssertion(rdfs:label "dyschromatosis universalis hereditaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megalocornea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Megalocornea"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/gene/CHRDL1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6849653"^^xsd:string) "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:249300"^^xsd:string) AnnotationAssertion( "MIM:309300"^^xsd:string) AnnotationAssertion( "MESH:C562829"^^xsd:string) AnnotationAssertion( "ORDO:91489"^^xsd:string) AnnotationAssertion( "MGC1"^^xsd:string) AnnotationAssertion( "MGCN"^^xsd:string) AnnotationAssertion( "anterior megalophthalmos"^^xsd:string) AnnotationAssertion( "congenital anterior megalophthalmia"^^xsd:string) AnnotationAssertion( "ISOLATED CONGENITAL MEGALOCORNEA"^^xsd:string) AnnotationAssertion( "X-linked megalocornea 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060305"^^xsd:string) AnnotationAssertion(rdfs:label "megalocornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14564153"^^xsd:string) "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2033"^^xsd:string) AnnotationAssertion( "MESH:C538012"^^xsd:string) AnnotationAssertion( "MIM:PS224690"^^xsd:string) AnnotationAssertion( "ORDO:2554"^^xsd:string) AnnotationAssertion( "EPS"^^xsd:string) AnnotationAssertion( "ear, patella, short stature syndrome"^^xsd:string) AnnotationAssertion( "microtia, absent patellae, micrognathia syndrome"^^xsd:string) AnnotationAssertion( "DONSON-RELATED MEIER-GORLIN SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060306"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21124998"^^xsd:string) "A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12107"^^xsd:string) AnnotationAssertion( "MIM:PS156200"^^xsd:string) AnnotationAssertion( "ORDO:178469"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060307"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21124998"^^xsd:string) "A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS249500"^^xsd:string) AnnotationAssertion( "ORDO:88616"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation"^^xsd:string) AnnotationAssertion( "autosomal recessive non-syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "autosomal recessive non-syndromic mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060308"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/X-linked_intellectual_disability"^^xsd:string) "A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS309510"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060309"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uvulitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8285973"^^xsd:string) "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K12.2"^^xsd:string) AnnotationAssertion( "acute uvulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060310"^^xsd:string) AnnotationAssertion(rdfs:label "uvulitis"^^xsd:string) SubClassOf( ) # Class: (adenoid hypertrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_hypertrophy"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21126775"^^xsd:string) "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J35.2"^^xsd:string) AnnotationAssertion( "ICD9CM:474.12"^^xsd:string) AnnotationAssertion( "RDO:9004969"^^xsd:string) AnnotationAssertion( "adenoidal hypertrophy"^^xsd:string) AnnotationAssertion( "enlarged adenoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060311"^^xsd:string) AnnotationAssertion(rdfs:label "adenoid hypertrophy"^^xsd:string) SubClassOf( ) # Class: (angular cheilitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angular_cheilitis"^^xsd:string) "A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C112198"^^xsd:string) AnnotationAssertion( "angular cheilosis"^^xsd:string) AnnotationAssertion( "angular stomatitis"^^xsd:string) AnnotationAssertion( "cheilosis"^^xsd:string) AnnotationAssertion( "commissural cheilitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060312"^^xsd:string) AnnotationAssertion(rdfs:label "angular cheilitis"^^xsd:string) SubClassOf( ) # Class: (tracheomalacia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tracheomalacia"^^xsd:string) "A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q32.0"^^xsd:string) AnnotationAssertion( "MESH:C557675"^^xsd:string) AnnotationAssertion( "MESH:D055090"^^xsd:string) AnnotationAssertion( "ORDO:95430"^^xsd:string) AnnotationAssertion( "Chondromalacia of Trachea"^^xsd:string) AnnotationAssertion( "Congenital Tracheomalacia"^^xsd:string) AnnotationAssertion( "Trachea Chondromalacia"^^xsd:string) AnnotationAssertion( "Trachea Chondromalacias"^^xsd:string) AnnotationAssertion( "Tracheomalacias"^^xsd:string) AnnotationAssertion( "Type 1 tracheomalacia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060313"^^xsd:string) AnnotationAssertion(rdfs:label "tracheomalacia"^^xsd:string) SubClassOf( ) # Class: (persistent generalized lymphadenopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy"^^xsd:string) "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003464"^^xsd:string) AnnotationAssertion( "PGL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060314"^^xsd:string) AnnotationAssertion(rdfs:label "persistent generalized lymphadenopathy"^^xsd:string) SubClassOf( ) # Class: (oral hairy leukoplakia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hairy_leukoplakia"^^xsd:string) "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001360"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.3"^^xsd:string) AnnotationAssertion( "MESH:D017733"^^xsd:string) AnnotationAssertion( "NCI:C3722"^^xsd:string) AnnotationAssertion( "hairy leukoplakia"^^xsd:string) AnnotationAssertion( "hairy leukoplakias"^^xsd:string) AnnotationAssertion( "oral hairy leukoplakias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060315"^^xsd:string) AnnotationAssertion(rdfs:label "oral hairy leukoplakia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance"^^xsd:string) "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311200"^^xsd:string) AnnotationAssertion( "MESH:C537134"^^xsd:string) AnnotationAssertion( "NCI:C75481"^^xsd:string) AnnotationAssertion( "ORDO:2750"^^xsd:string) AnnotationAssertion( "OFD1"^^xsd:string) AnnotationAssertion( "OFDS I"^^xsd:string) AnnotationAssertion( "Papillon-Leage and Psaume syndrome"^^xsd:string) AnnotationAssertion( "Papillon-Leage-Psaume syndrome"^^xsd:string) AnnotationAssertion( "Papillon-League-Psaume syndrome"^^xsd:string) AnnotationAssertion( "oral facial digital syndrome, type I"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type 1"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 1"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome type I"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome type1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060316"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lung_abscess"^^xsd:string) "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001362"^^xsd:string) AnnotationAssertion( "ICD10CM:J85.2"^^xsd:string) AnnotationAssertion( "ICD9CM:513.0"^^xsd:string) AnnotationAssertion( "MESH:D008169"^^xsd:string) AnnotationAssertion( "NCI:C99090"^^xsd:string) AnnotationAssertion( "Pulmonary Abscess"^^xsd:string) AnnotationAssertion( "lung abscesses"^^xsd:string) AnnotationAssertion( "pulmonary abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060317"^^xsd:string) AnnotationAssertion(rdfs:label "lung abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute promyelocytic leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia"^^xsd:string) "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612376"^^xsd:string) AnnotationAssertion( "EFO:0000224"^^xsd:string) AnnotationAssertion( "GARD:538"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.4"^^xsd:string) AnnotationAssertion( "MESH:D015473"^^xsd:string) AnnotationAssertion( "NCI:C3182"^^xsd:string) AnnotationAssertion( "ORDO:520"^^xsd:string) AnnotationAssertion( "AML M3"^^xsd:string) AnnotationAssertion( "APL"^^xsd:string) AnnotationAssertion( "M3 ANLL"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukaemia type 3"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukemia type 3"^^xsd:string) AnnotationAssertion( "acute myeloid leukaemia M3"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M3"^^xsd:string) AnnotationAssertion( "acute promyelocytic leukaemia"^^xsd:string) AnnotationAssertion( "acute promyelocytic leukemias"^^xsd:string) AnnotationAssertion( "progranulocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE"^^xsd:string) AnnotationAssertion( "DOID:0060318"^^xsd:string) AnnotationAssertion(rdfs:label "acute promyelocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (cardiac arrest) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiac_arrest"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/cardiacarrest.html"^^xsd:string) "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009492"^^xsd:string) AnnotationAssertion( "ICD10CM:I46"^^xsd:string) AnnotationAssertion( "ICD9CM:427.5"^^xsd:string) AnnotationAssertion( "MESH:D006323"^^xsd:string) AnnotationAssertion( "NCI:C50479"^^xsd:string) AnnotationAssertion( "NCI:C50483"^^xsd:string) AnnotationAssertion( "Asystole"^^xsd:string) AnnotationAssertion( "Cardiopulmonary Arrest"^^xsd:string) AnnotationAssertion( "asystoles"^^xsd:string) AnnotationAssertion( "circulatory arrest"^^xsd:string) AnnotationAssertion( "heart arrest"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060319"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac arrest"^^xsd:string) SubClassOf( ) # Class: (inguinal hernia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inguinal_hernia"^^xsd:string) "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K40"^^xsd:string) AnnotationAssertion( "ICD10CM:K40.90"^^xsd:string) AnnotationAssertion( "ICD9CM:550"^^xsd:string) AnnotationAssertion( "MESH:D006552"^^xsd:string) AnnotationAssertion( "NCI:C34690"^^xsd:string) AnnotationAssertion( "NCI:C34691"^^xsd:string) AnnotationAssertion( "NCI:C34692"^^xsd:string) AnnotationAssertion( "Direct Inguinal Hernia"^^xsd:string) AnnotationAssertion( "Direct Inguinal Hernias"^^xsd:string) AnnotationAssertion( "Indirect Inguinal Hernia"^^xsd:string) AnnotationAssertion( "Indirect Inguinal Hernias"^^xsd:string) AnnotationAssertion( "Inguinal Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060320"^^xsd:string) AnnotationAssertion(rdfs:label "inguinal hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (umbilical hernia) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Umbilical_hernia"^^xsd:string) "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K42"^^xsd:string) AnnotationAssertion( "ICD9CM:553.1"^^xsd:string) AnnotationAssertion( "MESH:D006554"^^xsd:string) AnnotationAssertion( "NCI:C118375"^^xsd:string) AnnotationAssertion( "Umbilical Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060321"^^xsd:string) AnnotationAssertion(rdfs:label "umbilical hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mastoiditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mastoiditis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm"^^xsd:string) "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H70.9"^^xsd:string) AnnotationAssertion( "ICD9CM:383.9"^^xsd:string) AnnotationAssertion( "MESH:D008417"^^xsd:string) AnnotationAssertion( "NCI:C128368"^^xsd:string) AnnotationAssertion( "mastoiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060322"^^xsd:string) AnnotationAssertion(rdfs:label "mastoiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mastitis#Breast_abscess"^^xsd:string) "A breast disease characterized by a collection of pus in the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060323"^^xsd:string) AnnotationAssertion(rdfs:label "breast abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental abscess) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dental_abscess"^^xsd:string) "A tooth disease characterized by a localized collection of pus associated with a tooth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060324"^^xsd:string) AnnotationAssertion(rdfs:label "dental abscess"^^xsd:string) SubClassOf( ) # Class: (cervical polyp) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cervical_polyp"^^xsd:string) "A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009475"^^xsd:string) AnnotationAssertion( "ICD10CM:D26.9"^^xsd:string) AnnotationAssertion( "ICD9CM:219"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060325"^^xsd:string) AnnotationAssertion(rdfs:label "cervical polyp"^^xsd:string) SubClassOf( ) # Class: (myelomeningocele) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm"^^xsd:string) "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001369"^^xsd:string) AnnotationAssertion( "ICD10CM:Q05"^^xsd:string) AnnotationAssertion( "MESH:D008591"^^xsd:string) AnnotationAssertion( "NCI:C101201"^^xsd:string) AnnotationAssertion( "NCI:C98874"^^xsd:string) AnnotationAssertion( "Acquired Myelomeningocele"^^xsd:string) AnnotationAssertion( "Meningomyeloceles"^^xsd:string) AnnotationAssertion( "acquired meningomyelocele"^^xsd:string) AnnotationAssertion( "acquired meningomyeloceles"^^xsd:string) AnnotationAssertion( "acquired myelomeningoceles"^^xsd:string) AnnotationAssertion( "meningomyelocele"^^xsd:string) AnnotationAssertion( "myelocele"^^xsd:string) AnnotationAssertion( "myeloceles"^^xsd:string) AnnotationAssertion( "myelomeningoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060326"^^xsd:string) AnnotationAssertion(rdfs:label "myelomeningocele"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (omphalocele) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Omphalocele"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm"^^xsd:string) "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.2"^^xsd:string) AnnotationAssertion( "ICD9CM:756.72"^^xsd:string) AnnotationAssertion( "MIM:164750"^^xsd:string) AnnotationAssertion( "MIM:310980"^^xsd:string) AnnotationAssertion( "NCI:C98997"^^xsd:string) AnnotationAssertion( "ORDO:660"^^xsd:string) AnnotationAssertion( "exomphalos"^^xsd:string) AnnotationAssertion( "omphalocoele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060327"^^xsd:string) AnnotationAssertion(rdfs:label "omphalocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal fistula) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_fistula"^^xsd:string) "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K60.3"^^xsd:string) AnnotationAssertion( "MESH:D012003"^^xsd:string) AnnotationAssertion( "rectal fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060328"^^xsd:string) AnnotationAssertion(rdfs:label "anal fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectopic pregnancy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ectopic_pregnancy"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm"^^xsd:string) "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6318"^^xsd:string) AnnotationAssertion( "ICD10CM:O00"^^xsd:string) AnnotationAssertion( "ICD9CM:633"^^xsd:string) AnnotationAssertion( "MESH:D011271"^^xsd:string) AnnotationAssertion( "NCI:C34945"^^xsd:string) AnnotationAssertion( "eccyesis"^^xsd:string) AnnotationAssertion( "ectopic pregnancies"^^xsd:string) AnnotationAssertion( "extrauterine pregnancies"^^xsd:string) AnnotationAssertion( "extrauterine pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060329"^^xsd:string) AnnotationAssertion(rdfs:label "ectopic pregnancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rapp-Hodgkin syndrome) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1"^^xsd:string) "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:129400"^^xsd:string) AnnotationAssertion( "GARD:5690"^^xsd:string) AnnotationAssertion( "MESH:C535289"^^xsd:string) AnnotationAssertion( "ORDO:3022"^^xsd:string) AnnotationAssertion( "RHS"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia with cleft lip/palate"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia syndrome, Rapp-Hodgkin type"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia, Rapp-Hodgkin type"^^xsd:string) AnnotationAssertion( "OFC8"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060330"^^xsd:string) AnnotationAssertion(rdfs:label "Rapp-Hodgkin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 2) AnnotationAssertion(Annotation( "http://omim.org/entry/614052"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614052"^^xsd:string) AnnotationAssertion( "GARD:12965"^^xsd:string) AnnotationAssertion( "MESH:C567528"^^xsd:string) AnnotationAssertion( "ORDO:1194"^^xsd:string) AnnotationAssertion( "MC5DN2"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, TMEM70 type"^^xsd:string) AnnotationAssertion( "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"^^xsd:string) AnnotationAssertion( "nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060331"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20566710/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614053"^^xsd:string) AnnotationAssertion( "DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX"^^xsd:string) AnnotationAssertion( "MC5DN3"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATP5E type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060332"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 3"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23599390/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34954817/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO)"^^xsd:string) AnnotationAssertion( "ATP5F1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MC5DN4"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060333"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4"^^xsd:string) SubClassOf( ) # Class: (transient neonatal diabetes mellitus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17349054"^^xsd:string) "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0020032"^^xsd:string) AnnotationAssertion( "EFO:0020040"^^xsd:string) AnnotationAssertion( "GARD:1839"^^xsd:string) AnnotationAssertion( "ORDO:99886"^^xsd:string) AnnotationAssertion( "DMTN"^^xsd:string) AnnotationAssertion( "TNDM"^^xsd:string) AnnotationAssertion( "autosomal recessive transient neonatal diabetes mellitus"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, dominant"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, dominant/recessive"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060334"^^xsd:string) AnnotationAssertion(rdfs:label "transient neonatal diabetes mellitus"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant sideroblastic anemia 4) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sideroblastic_anemia"^^xsd:string) "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182170"^^xsd:string) AnnotationAssertion( "MESH:C567160"^^xsd:string) AnnotationAssertion( "SIDBA4"^^xsd:string) AnnotationAssertion( "sideroblastic anemia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060335"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant sideroblastic anemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria"^^xsd:string) "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.111"^^xsd:string) AnnotationAssertion( "MESH:C579867"^^xsd:string) AnnotationAssertion( "MIM:PS250950"^^xsd:string) AnnotationAssertion( "ORDO:289902"^^xsd:string) AnnotationAssertion( "3mga (3-Methylglutaconic Aciduria)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060336"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CEDNIK syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21073448"^^xsd:string) "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609528"^^xsd:string) AnnotationAssertion( "MESH:C537943"^^xsd:string) AnnotationAssertion( "ORDO:66631"^^xsd:string) AnnotationAssertion( "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"^^xsd:string) AnnotationAssertion( "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060337"^^xsd:string) AnnotationAssertion(rdfs:label "CEDNIK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (parameningeal embryonal rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10717216"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23021437"^^xsd:string) "An embryonal rhabdomyosarcoma located in the parameningeal region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060338"^^xsd:string) AnnotationAssertion(rdfs:label "parameningeal embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (chronic atrial and intestinal dysrhythmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25282101"^^xsd:string) "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000750"^^xsd:string) AnnotationAssertion( "MIM:616201"^^xsd:string) AnnotationAssertion( "CAID"^^xsd:string) AnnotationAssertion( "CAID syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060339"^^xsd:string) AnnotationAssertion(rdfs:label "chronic atrial and intestinal dysrhythmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ciliopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ciliopathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18178628"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21210154"^^xsd:string) "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003900"^^xsd:string) AnnotationAssertion( "MESH:D000072661"^^xsd:string) AnnotationAssertion( "ciliopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060340"^^xsd:string) AnnotationAssertion(rdfs:label "ciliopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (agnathia-otocephaly complex) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17438667"^^xsd:string) "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202650"^^xsd:string) AnnotationAssertion( "ICD10CM:Q18.2"^^xsd:string) AnnotationAssertion( "MESH:C537996"^^xsd:string) AnnotationAssertion( "MESH:C562503"^^xsd:string) AnnotationAssertion( "ORDO:990"^^xsd:string) AnnotationAssertion( "AGOTC"^^xsd:string) AnnotationAssertion( "agnathia-holoprosencephaly"^^xsd:string) AnnotationAssertion( "agnathia-holoprosencephaly-situs inversus syndrome"^^xsd:string) AnnotationAssertion( "dysgnathia complex"^^xsd:string) AnnotationAssertion( "dysgnathia complex, agnathia-holoprosencephaly"^^xsd:string) AnnotationAssertion( "otocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060341"^^xsd:string) AnnotationAssertion(rdfs:label "agnathia-otocephaly complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acromelic frontonasal dysostosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15264282"^^xsd:string) "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603671"^^xsd:string) AnnotationAssertion( "ZSWIM6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:5539"^^xsd:string) AnnotationAssertion( "MESH:C566345"^^xsd:string) AnnotationAssertion( "ORDO:1827"^^xsd:string) AnnotationAssertion( "AFND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060342"^^xsd:string) AnnotationAssertion(rdfs:label "acromelic frontonasal dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glucocorticoid-induced osteoporosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17566815"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22870429"^^xsd:string) "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "steroid-induced osteoporosis"^^xsd:string) AnnotationAssertion( "DOID:0060343"^^xsd:string) AnnotationAssertion(rdfs:label "glucocorticoid-induced osteoporosis"^^xsd:string) SubClassOf( ) # Class: (acrodermatitis chronica atrophicans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans"^^xsd:string) Annotation( "http://www.dermis.net/dermisroot/en/35111/diagnose.htm"^^xsd:string) "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000665"^^xsd:string) AnnotationAssertion( "ICD9CM:701.8"^^xsd:string) AnnotationAssertion( "Herxheimer disease"^^xsd:string) AnnotationAssertion( "primary diffuse atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060344"^^xsd:string) AnnotationAssertion(rdfs:label "acrodermatitis chronica atrophicans"^^xsd:string) SubClassOf( ) # Class: (bacillary angiomatosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bacillary_angiomatosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9407154"^^xsd:string) "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016917"^^xsd:string) AnnotationAssertion( "NCI:C3477"^^xsd:string) AnnotationAssertion( "Bacillary Epithelioid Angiomatoses"^^xsd:string) AnnotationAssertion( "Bacillary Epithelioid Angiomatosis"^^xsd:string) AnnotationAssertion( "Epithelioid Angiomatoses"^^xsd:string) AnnotationAssertion( "bacillary angiomatoses"^^xsd:string) AnnotationAssertion( "epithelioid angiomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060345"^^xsd:string) AnnotationAssertion(rdfs:label "bacillary angiomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Native American myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18553514"^^xsd:string) "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:255995"^^xsd:string) AnnotationAssertion( "GARD:8432"^^xsd:string) AnnotationAssertion( "MESH:C538343"^^xsd:string) AnnotationAssertion( "ORDO:168572"^^xsd:string) AnnotationAssertion( "Bailey-Bloch congenital myopathy"^^xsd:string) AnnotationAssertion( "Baily-Bloch congenital myopathy"^^xsd:string) AnnotationAssertion( "CMYP13"^^xsd:string) AnnotationAssertion( "MYPBB"^^xsd:string) AnnotationAssertion( "NAM"^^xsd:string) AnnotationAssertion( "congenital myopathy 13"^^xsd:string) AnnotationAssertion( "congenital myopathy cleft palate and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "congenital myopathy, with cleft palate and malignant hyperthermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060346"^^xsd:string) AnnotationAssertion(rdfs:label "Native American myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrorenal syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26019842"^^xsd:string) "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:102520"^^xsd:string) AnnotationAssertion( "MESH:C563159"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060347"^^xsd:string) AnnotationAssertion(rdfs:label "acrorenal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoparathyroidism-retardation-dysmorphism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15645691"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24339556"^^xsd:string) "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241410"^^xsd:string) AnnotationAssertion( "GARD:411"^^xsd:string) AnnotationAssertion( "MESH:C537157"^^xsd:string) AnnotationAssertion( "NCI:C133727"^^xsd:string) AnnotationAssertion( "ORDO:2323"^^xsd:string) AnnotationAssertion( "HRD syndrome"^^xsd:string) AnnotationAssertion( "HRDS"^^xsd:string) AnnotationAssertion( "Hypoparathyroidism with short stature, mental retardation, and seizures"^^xsd:string) AnnotationAssertion( "Sanjad-Sakati syndrome"^^xsd:string) AnnotationAssertion( "congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060348"^^xsd:string) AnnotationAssertion(rdfs:label "hypoparathyroidism-retardation-dysmorphism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly with or without chorioretinopathy, lymphedema, or mental retardation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10482868"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11302131"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25124931"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5936364"^^xsd:string) "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:152950"^^xsd:string) AnnotationAssertion( "MESH:C537711"^^xsd:string) AnnotationAssertion( "ORDO:2526"^^xsd:string) AnnotationAssertion( "CDMMR syndrome"^^xsd:string) AnnotationAssertion( "KIF11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCLMR"^^xsd:string) AnnotationAssertion( "MLCRD syndrome"^^xsd:string) AnnotationAssertion( "chorioretinal dysplasia-microcephaly-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "lymphedema and retinal folds with ficrocephaly and microphthalmos"^^xsd:string) AnnotationAssertion( "lymphedema and retinal folds with microcephaly and microphthalmos"^^xsd:string) AnnotationAssertion( "lymphedema, microcephaly and chorioretinopathy syndrome"^^xsd:string) AnnotationAssertion( "lymphedema, microcephaly, chorioretinopathy syndrome"^^xsd:string) AnnotationAssertion( "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant"^^xsd:string) AnnotationAssertion( "microcephaly lymphedema chorioretinal dysplasia"^^xsd:string) AnnotationAssertion( "microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"^^xsd:string) AnnotationAssertion( "microcephaly, lymphedema, chorioretinal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060349"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adenine phosphoribosyltransferase deficiency) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22700886/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8864750/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20150536"^^xsd:string) "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614723"^^xsd:string) AnnotationAssertion( "GARD:10666"^^xsd:string) AnnotationAssertion( "GARD:546"^^xsd:string) AnnotationAssertion( "MESH:C538228"^^xsd:string) AnnotationAssertion( "NCI:C121564"^^xsd:string) AnnotationAssertion( "2,8-Dihydroxyadenine Urolithiasis"^^xsd:string) AnnotationAssertion( "2,8-Dihydroxyadeninuria"^^xsd:string) AnnotationAssertion( "APRT Deficiency"^^xsd:string) AnnotationAssertion( "APRTD"^^xsd:string) AnnotationAssertion( "DHA Crystalline Nephropathy"^^xsd:string) AnnotationAssertion( "Nephrolithiasis, DHA"^^xsd:string) AnnotationAssertion( "Urolithiasis, DHA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060350"^^xsd:string) AnnotationAssertion(rdfs:label "adenine phosphoribosyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 2) AnnotationAssertion(Annotation( "http://www.omim.org/entry/615157"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21278747"^^xsd:string) "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615157"^^xsd:string) AnnotationAssertion( "MC3DN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060351"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 2"^^xsd:string) SubClassOf( ) # Class: (Kleefstra syndrome 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/9q34_deletion_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15264279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16826528"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21245904"^^xsd:string) "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070075"^^xsd:string) AnnotationAssertion( "MIM:610253"^^xsd:string) AnnotationAssertion( "GARD:8672"^^xsd:string) AnnotationAssertion( "MESH:C563043"^^xsd:string) AnnotationAssertion( "ORDO:261494"^^xsd:string) AnnotationAssertion( "9q subtelomeric deletion syndrome"^^xsd:string) AnnotationAssertion( "9q- syndrome"^^xsd:string) AnnotationAssertion( "9q34 deletion syndrome"^^xsd:string) AnnotationAssertion( "9q34.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "9q34.3 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "EHMT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "chromosome 9Q deletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 9q34.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060352"^^xsd:string) AnnotationAssertion(rdfs:label "Kleefstra syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis Cincinnati type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25913037"^^xsd:string) "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "POLR1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616462"^^xsd:string) AnnotationAssertion( "AFDCIN"^^xsd:string) AnnotationAssertion( "Cincinnati type of acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060353"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis Cincinnati type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stormorken syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/stormorken-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24619930"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25577287"^^xsd:string) "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "MIM:185070"^^xsd:string) AnnotationAssertion( "MESH:C566108"^^xsd:string) AnnotationAssertion( "ORDO:3204"^^xsd:string) AnnotationAssertion( "thrombocytopathy, asplenia, and miosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060354"^^xsd:string) AnnotationAssertion(rdfs:label "Stormorken syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 22) AnnotationAssertion(Annotation( "http://omim.org/entry/616208"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001187"^^xsd:string) AnnotationAssertion( "MIM:616208"^^xsd:string) AnnotationAssertion( "ALS 22"^^xsd:string) AnnotationAssertion( "ALS22"^^xsd:string) AnnotationAssertion( "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22 with frontotemporal dementia"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060355"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vici syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vici_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21965116"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23222957"^^xsd:string) "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242840"^^xsd:string) AnnotationAssertion( "GARD:448"^^xsd:string) AnnotationAssertion( "MESH:C535566"^^xsd:string) AnnotationAssertion( "MONDO:0009452"^^xsd:string) AnnotationAssertion( "NCI:C138174"^^xsd:string) AnnotationAssertion( "ORDO:1493"^^xsd:string) AnnotationAssertion( "Absent Corpus Callosum Cataract Immunodeficiency"^^xsd:string) AnnotationAssertion( "EPG5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VICIS"^^xsd:string) AnnotationAssertion( "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060356"^^xsd:string) AnnotationAssertion(rdfs:label "Vici syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chylomicron retention disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chylomicron_retention_disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10521380"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20920215"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3430059"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3792776"^^xsd:string) "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:246700"^^xsd:string) AnnotationAssertion( "GARD:9683"^^xsd:string) AnnotationAssertion( "MESH:C535460"^^xsd:string) AnnotationAssertion( "ORDO:71"^^xsd:string) AnnotationAssertion( "ANDD"^^xsd:string) AnnotationAssertion( "Anderson Syndrome"^^xsd:string) AnnotationAssertion( "Anderson disease"^^xsd:string) AnnotationAssertion( "CMRD"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells"^^xsd:string) AnnotationAssertion( "lipid transport defect of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060357"^^xsd:string) AnnotationAssertion(rdfs:label "chylomicron retention disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple acyl-CoA dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12815589"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22580358"^^xsd:string) "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231680"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.313"^^xsd:string) AnnotationAssertion( "MESH:D054069"^^xsd:string) AnnotationAssertion( "NCI:C84907"^^xsd:string) AnnotationAssertion( "ORDO:26791"^^xsd:string) AnnotationAssertion( "ETHYLMALONIC-ADIPICACIDURIA"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Deficiency"^^xsd:string) AnnotationAssertion( "Ethylmalonic Adipic Aciduria"^^xsd:string) AnnotationAssertion( "Ethylmalonic-Adipic Acidurias"^^xsd:string) AnnotationAssertion( "MAD deficiency"^^xsd:string) AnnotationAssertion( "MADD"^^xsd:string) AnnotationAssertion( "MADD (multiple acyl-CoA dehydrogenase deficiency)"^^xsd:string) AnnotationAssertion( "electron transfer flavoprotein ubiquinone oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "multiple FAD dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "EMA GLUTARIC ACIDEMIA IIA"^^xsd:string) AnnotationAssertion( "ETFA DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFA deficiencies"^^xsd:string) AnnotationAssertion( "ETFB DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFB Deficiencies"^^xsd:string) AnnotationAssertion( "ETFDH DEFICIENCY"^^xsd:string) AnnotationAssertion( "ETFDH Deficiencies"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Beta Subunit Deficiency"^^xsd:string) AnnotationAssertion( "Electron Transfer Flavoprotein Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "GA II"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA II"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIB"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIC"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA IIC, LATE-ONSET"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA TYPE 2C"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia Type II"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia, Type 2"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria II"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIA"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIB"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria IIC"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria Type 2"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria Type II"^^xsd:string) AnnotationAssertion( "MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE"^^xsd:string) AnnotationAssertion( "electron transfer flavoprotein alpha subunit deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060358"^^xsd:string) AnnotationAssertion(rdfs:label "multiple acyl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sakati-Nyhan syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome"^^xsd:string) "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101120"^^xsd:string) AnnotationAssertion( "GARD:115"^^xsd:string) AnnotationAssertion( "MESH:C537227"^^xsd:string) AnnotationAssertion( "ORDO:3128"^^xsd:string) AnnotationAssertion( "ACPS III"^^xsd:string) AnnotationAssertion( "ACPS with leg hypoplasia"^^xsd:string) AnnotationAssertion( "Sakati syndrome"^^xsd:string) AnnotationAssertion( "Sakati-Nyhan-Tisdale syndrome"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type 3"^^xsd:string) AnnotationAssertion( "acrocephalopolysyndactyly type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060359"^^xsd:string) AnnotationAssertion(rdfs:label "Sakati-Nyhan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary papulotranslucent acrokeratoderma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16409913"^^xsd:string) "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101840"^^xsd:string) AnnotationAssertion( "RDO:0014709"^^xsd:string) AnnotationAssertion( "EFO:1000708"^^xsd:string) AnnotationAssertion( "MESH:C566323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060360"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary papulotranslucent acrokeratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (punctate palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate"^^xsd:string) "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:307967"^^xsd:string) AnnotationAssertion( "punctate palmoplantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "punctate keratosis palmoplantaris"^^xsd:string) AnnotationAssertion( "DOID:0060361"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (punctate palmoplantar keratoderma type III) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i"^^xsd:string) "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000758"^^xsd:string) AnnotationAssertion( "MESH:C535653"^^xsd:string) AnnotationAssertion( "MIM:101850"^^xsd:string) AnnotationAssertion( "MONDO:0007047"^^xsd:string) AnnotationAssertion( "ORDO:38"^^xsd:string) AnnotationAssertion( "PPKP3"^^xsd:string) AnnotationAssertion( "acrokeratoelastoidosis of Costa"^^xsd:string) AnnotationAssertion( "collagenous plaques of hand and feet"^^xsd:string) AnnotationAssertion( "collagenous plaques of hands and feet"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma, punctate type 3"^^xsd:string) AnnotationAssertion( "punctate palmoplantar hyperkeratosis type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060362"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma type III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycerol kinase deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22427807"^^xsd:string) "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:307030"^^xsd:string) AnnotationAssertion( "NCI:C124845"^^xsd:string) AnnotationAssertion( "ORDO:408"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF GLYCEROL KINASE"^^xsd:string) AnnotationAssertion( "GK deficiency"^^xsd:string) AnnotationAssertion( "GK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GK1 deficiency"^^xsd:string) AnnotationAssertion( "GKD"^^xsd:string) AnnotationAssertion( "hyperglycerolemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060363"^^xsd:string) AnnotationAssertion(rdfs:label "glycerol kinase deficiency"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat syndrome 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26123727/"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:251300"^^xsd:string) AnnotationAssertion( "MONDO:0033005"^^xsd:string) AnnotationAssertion( "GAMOS1"^^xsd:string) AnnotationAssertion( "Galloway syndrome"^^xsd:string) AnnotationAssertion( "SCAR5"^^xsd:string) AnnotationAssertion( "WDR73-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 5"^^xsd:string) AnnotationAssertion( "microcephaly, hiatal hernia and nephrotic syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-microcephaly syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-neuronal dysmigration syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060364"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 1"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (mandibulofacial dysostosis with alopecia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25772936"^^xsd:string) "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616367"^^xsd:string) AnnotationAssertion( "MFDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060365"^^xsd:string) AnnotationAssertion(rdfs:label "mandibulofacial dysostosis with alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hennekam syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/hennekam-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hennekam_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14564208"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24870712"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2624276"^^xsd:string) "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3318"^^xsd:string) AnnotationAssertion( "MESH:C537255"^^xsd:string) AnnotationAssertion( "MIM:PS235510"^^xsd:string) AnnotationAssertion( "ORDO:2136"^^xsd:string) AnnotationAssertion( "Hennekam Lymphangiectasia Lymphedema Syndrome"^^xsd:string) AnnotationAssertion( "Lymphangiectasies and lymphedema Hennekam type"^^xsd:string) AnnotationAssertion( "generalized lymphatic dysplasia"^^xsd:string) AnnotationAssertion( "lymphedem-lymphangiectasia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "lymphedema-lymphangiectasia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060366"^^xsd:string) AnnotationAssertion(rdfs:label "Hennekam syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 1) AnnotationAssertion(Annotation( "http://www.omim.org/entry/168601"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:168601"^^xsd:string) AnnotationAssertion( "MESH:C566823"^^xsd:string) AnnotationAssertion( "NCI:C198602"^^xsd:string) AnnotationAssertion( "Lewy Body Parkinsonism"^^xsd:string) AnnotationAssertion( "PARK1"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Familial, Type 1"^^xsd:string) AnnotationAssertion( "atypical Parkinson disease"^^xsd:string) AnnotationAssertion( "atypical Parkinson's disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 1, Lewy body"^^xsd:string) AnnotationAssertion( "familial Parkinson's disease, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060367"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600116"^^xsd:string) AnnotationAssertion( "NCI:C198603"^^xsd:string) AnnotationAssertion( "PARK2"^^xsd:string) AnnotationAssertion( "Parkinson disease 2"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease, early onset"^^xsd:string) AnnotationAssertion( "autosomal recessive juvenile Parkinson disease 2"^^xsd:string) AnnotationAssertion( "autosomal recessive juvenile Parkinson's disease 2"^^xsd:string) AnnotationAssertion( "early onset Parkinsonism with diurnal fluctuation"^^xsd:string) AnnotationAssertion( "young-onset Parkinson disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060368"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605909"^^xsd:string) AnnotationAssertion( "MESH:C565276"^^xsd:string) AnnotationAssertion( "NCI:C184990"^^xsd:string) AnnotationAssertion( "PARK6"^^xsd:string) AnnotationAssertion( "PINK1-related parkinsonism"^^xsd:string) AnnotationAssertion( "Parkinson disease 6"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 6"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 6"^^xsd:string) AnnotationAssertion( "early-onset Parkinson disease 6"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE 6, EARLY-ONSET"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060369"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606324"^^xsd:string) AnnotationAssertion( "MESH:C565238"^^xsd:string) AnnotationAssertion( "NCI:C198606"^^xsd:string) AnnotationAssertion( "PARK7"^^xsd:string) AnnotationAssertion( "Parkinson disease 7"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 7"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060370"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607060"^^xsd:string) AnnotationAssertion( "MESH:C564631"^^xsd:string) AnnotationAssertion( "NCI:C198605"^^xsd:string) AnnotationAssertion( "LRRK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PARK8"^^xsd:string) AnnotationAssertion( "Parkinson disease 8"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 8"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060371"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22315721"^^xsd:string) "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260300"^^xsd:string) AnnotationAssertion( "MESH:C538104"^^xsd:string) AnnotationAssertion( "NCI:C198607"^^xsd:string) AnnotationAssertion( "PARK15"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 15"^^xsd:string) AnnotationAssertion( "PKPS"^^xsd:string) AnnotationAssertion( "Pallidopyramidal Syndrome"^^xsd:string) AnnotationAssertion( "Parkinson Disease 15, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Parkinson's disease 15, autosomal recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 15"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 15"^^xsd:string) AnnotationAssertion( "pallido-pyramidal disease"^^xsd:string) AnnotationAssertion( "pallido-pyramidal syndrome"^^xsd:string) AnnotationAssertion( "parkinsonian-pyramidal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060372"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome III) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3"^^xsd:string) "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258850"^^xsd:string) AnnotationAssertion( "MESH:C557817"^^xsd:string) AnnotationAssertion( "ORDO:2752"^^xsd:string) AnnotationAssertion( "OFDS III"^^xsd:string) AnnotationAssertion( "Sugarman syndrome"^^xsd:string) AnnotationAssertion( "brachydactyly of the hands and feet with duplication of the first toes"^^xsd:string) AnnotationAssertion( "brachydactyly with major proximal phalangeal shortening"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 3"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type III"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060373"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome IV) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4"^^xsd:string) "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258860"^^xsd:string) AnnotationAssertion( "MESH:C537133"^^xsd:string) AnnotationAssertion( "ORDO:2753"^^xsd:string) AnnotationAssertion( "Baraitser-Burn syndrome"^^xsd:string) AnnotationAssertion( "Mohr-Majewski Syndrome"^^xsd:string) AnnotationAssertion( "OFD Syndrome, Baraitser-Burn Type"^^xsd:string) AnnotationAssertion( "OFD syndrome with tibial defects"^^xsd:string) AnnotationAssertion( "OFD4"^^xsd:string) AnnotationAssertion( "OFDS IV"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type IV"^^xsd:string) AnnotationAssertion( "orofacial-digital syndrome IV"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 4"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with tibial dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060374"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome IV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome V) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23972372"^^xsd:string) "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:174300"^^xsd:string) AnnotationAssertion( "MESH:C557819"^^xsd:string) AnnotationAssertion( "ORDO:2919"^^xsd:string) AnnotationAssertion( "OFD5"^^xsd:string) AnnotationAssertion( "OFDS V"^^xsd:string) AnnotationAssertion( "Thurston syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 5"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type V"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 5"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome Thurston type"^^xsd:string) AnnotationAssertion( "postaxial polydactyly with median cleft of upper lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060375"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome with orofaciodigital defect) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23716954"^^xsd:string) "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277170"^^xsd:string) AnnotationAssertion( "CPLANE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4412"^^xsd:string) AnnotationAssertion( "MESH:C536531"^^xsd:string) AnnotationAssertion( "NCI:C124841"^^xsd:string) AnnotationAssertion( "ORDO:2754"^^xsd:string) AnnotationAssertion( "OFD6"^^xsd:string) AnnotationAssertion( "OFDS VI"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome, Type VI"^^xsd:string) AnnotationAssertion( "Orofaciodigital Syndrome VI"^^xsd:string) AnnotationAssertion( "Orofaciodigital syndrome 6"^^xsd:string) AnnotationAssertion( "Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation"^^xsd:string) AnnotationAssertion( "Varadi Papp syndrome"^^xsd:string) AnnotationAssertion( "Varadi syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type 6"^^xsd:string) AnnotationAssertion( "polydactyly, cleft lip palate, psychomotor retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060376"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome with orofaciodigital defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome VII) AnnotationAssertion(Annotation( "https://omim.org/entry/608518"^^xsd:string) "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608518"^^xsd:string) AnnotationAssertion( "MESH:C563104"^^xsd:string) AnnotationAssertion( "ORDO:90649"^^xsd:string) AnnotationAssertion( "OFD7"^^xsd:string) AnnotationAssertion( "OFDS VII"^^xsd:string) AnnotationAssertion( "Whelan syndrome"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type VII"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060377"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome VII"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome VIII) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8"^^xsd:string) "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300484"^^xsd:string) AnnotationAssertion( "GARD:4060"^^xsd:string) AnnotationAssertion( "MESH:C557820"^^xsd:string) AnnotationAssertion( "ORDO:2755"^^xsd:string) AnnotationAssertion( "OFD syndrome 8"^^xsd:string) AnnotationAssertion( "OFD8"^^xsd:string) AnnotationAssertion( "OFDS 8"^^xsd:string) AnnotationAssertion( "OFDS VIII"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 8"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome type 8"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome with hypoplastic epiglottis"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, Edwards type"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 8"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome, Edwards type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060378"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome VIII"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis"^^xsd:string) "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060379"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome X) AnnotationAssertion(Annotation( "https://omim.org/entry/165590"^^xsd:string) "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO)"^^xsd:string) AnnotationAssertion( "MIM:165590"^^xsd:string) AnnotationAssertion( "MESH:C563491"^^xsd:string) AnnotationAssertion( "ORDO:2756"^^xsd:string) AnnotationAssertion( "OFD10"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome with Fibular Aplasia"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type X"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 10"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with fibular aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060380"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome X"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XI) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11"^^xsd:string) "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612913"^^xsd:string) AnnotationAssertion( "MESH:C557821"^^xsd:string) AnnotationAssertion( "ORDO:141000"^^xsd:string) AnnotationAssertion( "Gabrielli syndrome"^^xsd:string) AnnotationAssertion( "OFD11"^^xsd:string) AnnotationAssertion( "OFDS XI"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome with Skeletal Anomalies"^^xsd:string) AnnotationAssertion( "Oral-Facial-Digital Syndrome, Type XI"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 11"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060381"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XI"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome IX) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18000902"^^xsd:string) "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258865"^^xsd:string) AnnotationAssertion( "GARD:10520"^^xsd:string) AnnotationAssertion( "MESH:C557818"^^xsd:string) AnnotationAssertion( "ORDO:141007"^^xsd:string) AnnotationAssertion( "OFD9"^^xsd:string) AnnotationAssertion( "OFDS IX"^^xsd:string) AnnotationAssertion( "oral facial digital syndrome, type IX"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 9"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome with retinal abnormalities"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 9"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome with retinal abnormalities"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome, type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060382"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome IX"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis Rodriguez type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type"^^xsd:string) "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201170"^^xsd:string) AnnotationAssertion( "RDO:0004126"^^xsd:string) AnnotationAssertion( "GARD:496"^^xsd:string) AnnotationAssertion( "MESH:C538183"^^xsd:string) AnnotationAssertion( "ORDO:1788"^^xsd:string) AnnotationAssertion( "Acrofacial Dysostosis Syndrome Of Rodriguez"^^xsd:string) AnnotationAssertion( "Rodriguez lethal acrofacial dysostosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060383"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis Rodriguez type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis, Catania type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type"^^xsd:string) "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101805"^^xsd:string) AnnotationAssertion( "RDO:0004125"^^xsd:string) AnnotationAssertion( "GARD:494"^^xsd:string) AnnotationAssertion( "MESH:C538182"^^xsd:string) AnnotationAssertion( "ORDO:1786"^^xsd:string) AnnotationAssertion( "Acrofacial Dysostosis Catania Form"^^xsd:string) AnnotationAssertion( "Opitz Mollica Sorge syndrome"^^xsd:string) AnnotationAssertion( "Opitz-Caltabiano syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060384"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis, Catania type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrofacial dysostosis, Patagonia type) AnnotationAssertion(Annotation( "https://omim.org/entry/601829"^^xsd:string) "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601829"^^xsd:string) AnnotationAssertion( "RDO:0004128"^^xsd:string) AnnotationAssertion( "MESH:C538185"^^xsd:string) AnnotationAssertion( "ORDO:1787"^^xsd:string) AnnotationAssertion( "Palagonia type of acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060385"^^xsd:string) AnnotationAssertion(rdfs:label "acrofacial dysostosis, Patagonia type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chilblain lupus) AnnotationAssertion(Annotation( "https://www.omim.org/entry/610448"^^xsd:string) "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS610448"^^xsd:string) AnnotationAssertion( "ORDO:90280"^^xsd:string) AnnotationAssertion( "CHILBLAIN LUPUS ERYTHEMATOSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060386"^^xsd:string) AnnotationAssertion(rdfs:label "Chilblain lupus"^^xsd:string) SubClassOf( ) # Class: (chondrodysplasia Blomstrand type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type"^^xsd:string) "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215045"^^xsd:string) AnnotationAssertion( "GARD:914"^^xsd:string) AnnotationAssertion( "MESH:C537914"^^xsd:string) AnnotationAssertion( "NCI:C131420"^^xsd:string) AnnotationAssertion( "ORDO:50945"^^xsd:string) AnnotationAssertion( "BOCD"^^xsd:string) AnnotationAssertion( "Blomstrand lethal chondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand lethal osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "Blomstrand syndrome"^^xsd:string) AnnotationAssertion( "lethal congenital dwarfism with accelerated skeletal maturation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060387"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia Blomstrand type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosomal deletion syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome"^^xsd:string) Annotation( "https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK23758/"^^xsd:string) "A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "chromosome deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060388"^^xsd:string) AnnotationAssertion(rdfs:label "chromosomal deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 10q23 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21248748"^^xsd:string) "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612242"^^xsd:string) AnnotationAssertion( "MESH:C567385"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060389"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 10q23 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal 10q deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion"^^xsd:string) "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609625"^^xsd:string) AnnotationAssertion( "RDO:0015324"^^xsd:string) AnnotationAssertion( "MESH:C567182"^^xsd:string) AnnotationAssertion( "ORDO:96148"^^xsd:string) AnnotationAssertion( "Terminal Chromosome 10q26 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "chromosome 10q26 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 10q"^^xsd:string) AnnotationAssertion( "monosomy 10qter"^^xsd:string) AnnotationAssertion( "telomeric deletion 10q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060390"^^xsd:string) AnnotationAssertion(rdfs:label "distal 10q deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 13q14 deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/"^^xsd:string) "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613884"^^xsd:string) AnnotationAssertion( "ORDO:1587"^^xsd:string) AnnotationAssertion( "deletion 13q14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060391"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 13q14 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 14q11-q22 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21744488"^^xsd:string) "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613457"^^xsd:string) AnnotationAssertion( "ORDO:261120"^^xsd:string) AnnotationAssertion( "14q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Zahir-Friedman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060392"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 14q11-q22 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 15q11.2 deletion syndrome) AnnotationAssertion(Annotation( "https://www.omim.org/entry/615656"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615656"^^xsd:string) AnnotationAssertion( "MESH:C557830"^^xsd:string) AnnotationAssertion( "ORDO:261183"^^xsd:string) AnnotationAssertion( "15q11.2 microdeletion"^^xsd:string) AnnotationAssertion( "15q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 15q11-q13 duplication syndrome"^^xsd:string) AnnotationAssertion( "duplication 15q11-q13 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060393"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q11.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q13.3 microdeletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612001"^^xsd:string) AnnotationAssertion( "GARD:10296"^^xsd:string) AnnotationAssertion( "MESH:C567439"^^xsd:string) AnnotationAssertion( "ORDO:199318"^^xsd:string) AnnotationAssertion( "15q13.3 microdeletion"^^xsd:string) AnnotationAssertion( "15q13.3 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 15q13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060394"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q13.3 microdeletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q24 deletion syndrome) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613406"^^xsd:string) "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613406"^^xsd:string) AnnotationAssertion( "GARD:12219"^^xsd:string) AnnotationAssertion( "MESH:C579849"^^xsd:string) AnnotationAssertion( "ORDO:94065"^^xsd:string) AnnotationAssertion( "15q24 deletion"^^xsd:string) AnnotationAssertion( "15q24 microdeletion"^^xsd:string) AnnotationAssertion( "15q24 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "SIN3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "WITKOS"^^xsd:string) AnnotationAssertion( "Witteveen-Kolk syndrome"^^xsd:string) AnnotationAssertion( "interstitial deletion of chromosome 15q24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060395"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q24 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q25 deletion syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion"^^xsd:string) "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060396"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q25 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 15q26-qter deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18651844"^^xsd:string) "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612626"^^xsd:string) AnnotationAssertion( "MESH:C567232"^^xsd:string) AnnotationAssertion( "ORDO:1596"^^xsd:string) AnnotationAssertion( "15q26 deletion syndrome"^^xsd:string) AnnotationAssertion( "Drayer Syndrome"^^xsd:string) AnnotationAssertion( "distal 15q deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 15q"^^xsd:string) AnnotationAssertion( "telomeric 15q deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060397"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 15q26-qter deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 16p11.2 deletion syndrome, 220-kb) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20808231"^^xsd:string) "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613444"^^xsd:string) AnnotationAssertion( "NCI:C120408"^^xsd:string) AnnotationAssertion( "ORDO:261222"^^xsd:string) AnnotationAssertion( "chromosome 16p11.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal 16p11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060398"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p11.2 deletion syndrome, 220-kb"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p12.1 deletion syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20154674"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:136570"^^xsd:string) AnnotationAssertion( "NCI:C129875"^^xsd:string) AnnotationAssertion( "chromosome 16p12.1 deletion syndrome, 520kb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060399"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p12.1 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p12.2-p11.2 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19449418"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613604"^^xsd:string) AnnotationAssertion( "ORDO:261211"^^xsd:string) AnnotationAssertion( "16p11.2-p12.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "16p11.2p12.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060400"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p12.2-p11.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16q22 deletion syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1605249"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614541"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060401"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16q22 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17p13.1 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19617690"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10996"^^xsd:string) AnnotationAssertion( "MIM:613776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060402"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17p13.1 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q11.2 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10631140/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613675"^^xsd:string) AnnotationAssertion( "MIM:614192"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.0"^^xsd:string) AnnotationAssertion( "MESH:C563524"^^xsd:string) AnnotationAssertion( "ORDO:97685"^^xsd:string) AnnotationAssertion( "17q11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "MMFD"^^xsd:string) AnnotationAssertion( "NF1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Van Asperen syndrome"^^xsd:string) AnnotationAssertion( "chromosome 17q11.2 deletion syndrome, 1.4Mb"^^xsd:string) AnnotationAssertion( "macrocephaly, macrosomia, and facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "macrocephaly, macrosomia, facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060403"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q11.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q12 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13297"^^xsd:string) AnnotationAssertion( "MIM:614527"^^xsd:string) AnnotationAssertion( "ORDO:261265"^^xsd:string) AnnotationAssertion( "17q12 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060404"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q12 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q23.1-q23.2 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20598276"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10936"^^xsd:string) AnnotationAssertion( "MIM:613355"^^xsd:string) AnnotationAssertion( "ORDO:261279"^^xsd:string) AnnotationAssertion( "17q23.1-q23.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "17q23.1q23.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060405"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q23.1-q23.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 18p deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16691587"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146390"^^xsd:string) AnnotationAssertion( "GARD:8631"^^xsd:string) AnnotationAssertion( "MESH:C538309"^^xsd:string) AnnotationAssertion( "NCI:C84521"^^xsd:string) AnnotationAssertion( "ORDO:1598"^^xsd:string) AnnotationAssertion( "18p deletion syndrome"^^xsd:string) AnnotationAssertion( "18p minus syndrome"^^xsd:string) AnnotationAssertion( "18p- syndrome"^^xsd:string) AnnotationAssertion( "De Grouchy syndrome"^^xsd:string) AnnotationAssertion( "Del(18p) syndrome"^^xsd:string) AnnotationAssertion( "monosomy 18p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060406"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 18p deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 18q deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601808"^^xsd:string) AnnotationAssertion( "MESH:C536580"^^xsd:string) AnnotationAssertion( "ORDO:1600"^^xsd:string) AnnotationAssertion( "18q syndrome"^^xsd:string) AnnotationAssertion( "chromosome 18, monosomy 18Q"^^xsd:string) AnnotationAssertion( "chromosome 18q syndrome"^^xsd:string) AnnotationAssertion( "deletion 18q"^^xsd:string) AnnotationAssertion( "monosomy 18q"^^xsd:string) AnnotationAssertion( "monosomy 18q syndrome"^^xsd:string) AnnotationAssertion( "monosomy 18q, deletion 18q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060407"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 18q deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 19q13.11 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24243649"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613026"^^xsd:string) AnnotationAssertion( "GARD:10592"^^xsd:string) AnnotationAssertion( "MESH:C567810"^^xsd:string) AnnotationAssertion( "ORDO:217346"^^xsd:string) AnnotationAssertion( "19q13.11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 19q13.11 deletion syndrome, distal"^^xsd:string) AnnotationAssertion( "monosomy 19q13.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060408"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 19q13.11 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NFIA-related disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK542336/"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613735"^^xsd:string) AnnotationAssertion( "ORDO:401986"^^xsd:string) AnnotationAssertion( "BRMUTD"^^xsd:string) AnnotationAssertion( "NFIA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "brain malformations with or without urinary tract defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "1p31p32 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1p32-p31 deletion syndrome"^^xsd:string) AnnotationAssertion( "DOID:0060409"^^xsd:string) AnnotationAssertion(rdfs:label "NFIA-related disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 1p36 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607872"^^xsd:string) AnnotationAssertion( "GARD:6082"^^xsd:string) AnnotationAssertion( "MESH:C535362"^^xsd:string) AnnotationAssertion( "NCI:C74983"^^xsd:string) AnnotationAssertion( "ORDO:1606"^^xsd:string) AnnotationAssertion( "1p36 deletion syndrome"^^xsd:string) AnnotationAssertion( "1p36.33 deletion"^^xsd:string) AnnotationAssertion( "chromosome 1, 1p36 deletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1p36 deletion syndrome, distal"^^xsd:string) AnnotationAssertion( "deletion 1p36"^^xsd:string) AnnotationAssertion( "monosomy 1p36"^^xsd:string) AnnotationAssertion( "monosomy 1p36 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "subtelomeric 1p36 deletion"^^xsd:string) AnnotationAssertion( "DOID:0060410"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1p36 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 1q21.1 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1q211-microdeletion"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612474"^^xsd:string) AnnotationAssertion( "GARD:10813"^^xsd:string) AnnotationAssertion( "MESH:C567291"^^xsd:string) AnnotationAssertion( "ORDO:250989"^^xsd:string) AnnotationAssertion( "1q21.1 Deletion"^^xsd:string) AnnotationAssertion( "1q21.1 Microdeletion"^^xsd:string) AnnotationAssertion( "1q21.1 contiguous gene deletion"^^xsd:string) AnnotationAssertion( "1q21.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 1q21.1 deletion syndrome, 1.35-Mb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "monosomy 1q21.1"^^xsd:string) AnnotationAssertion( "DOID:0060411"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q21.1 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 1q41-q42 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736036/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3738"^^xsd:string) AnnotationAssertion( "MIM:612530"^^xsd:string) AnnotationAssertion( "MONDO:0012927"^^xsd:string) AnnotationAssertion( "ORDO:250999"^^xsd:string) AnnotationAssertion( "1q41-q42 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "1q41q42 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060412"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q41-q42 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q11.2 deletion syndrome, distal) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18179902/"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611867"^^xsd:string) AnnotationAssertion( "MESH:C567511"^^xsd:string) AnnotationAssertion( "ORDO:261330"^^xsd:string) AnnotationAssertion( "DiGeorge syndrome and Velocardiofacial syndrome"^^xsd:string) AnnotationAssertion( "distal 22q11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060413"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q11.2 deletion syndrome, distal"^^xsd:string) SubClassOf( ) # Class: (chromosome 2p12-p11.2 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19764038/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613564"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060414"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2p12-p11.2 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 2p16.1-p15 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26019277/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612513"^^xsd:string) AnnotationAssertion( "GARD:13391"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.5"^^xsd:string) AnnotationAssertion( "MESH:C567289"^^xsd:string) AnnotationAssertion( "ORDO:261349"^^xsd:string) AnnotationAssertion( "2p15-p16.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "2p15p16.1 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060415"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2p16.1-p15 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 2q31.2 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19248183/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612345"^^xsd:string) AnnotationAssertion( "MESH:C567344"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060416"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2q31.2 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3p deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19760623"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613792"^^xsd:string) AnnotationAssertion( "ORDO:1620"^^xsd:string) AnnotationAssertion( "3p- syndrome"^^xsd:string) AnnotationAssertion( "chromosome 3pter-P25 deletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 3p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060417"^^xsd:string) AnnotationAssertion(rdfs:label "3p deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 3q13.31 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22180640/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615433"^^xsd:string) AnnotationAssertion( "MESH:C536808"^^xsd:string) AnnotationAssertion( "ORDO:1621"^^xsd:string) AnnotationAssertion( "3q13 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 3, monosomy 3q13"^^xsd:string) AnnotationAssertion( "deletion 3q13"^^xsd:string) AnnotationAssertion( "monosomy 3q13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060418"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q13.31 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 3q29 microdeletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK385289/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609425"^^xsd:string) AnnotationAssertion( "GARD:11974"^^xsd:string) AnnotationAssertion( "MESH:C567184"^^xsd:string) AnnotationAssertion( "ORDO:65286"^^xsd:string) AnnotationAssertion( "3q subtelomere deletion syndrome"^^xsd:string) AnnotationAssertion( "3q29 recurrent deletion"^^xsd:string) AnnotationAssertion( "3qter deletion"^^xsd:string) AnnotationAssertion( "microdeletion 3q29 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060419"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q29 microdeletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 4q21 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20522426/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613509"^^xsd:string) AnnotationAssertion( "ORDO:238750"^^xsd:string) AnnotationAssertion( "4q21 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 4q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060420"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 4q21 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 5q12 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24203977/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615668"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060421"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 5q12 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 6pter-p24 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18629875/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612582"^^xsd:string) AnnotationAssertion( "MESH:C567239"^^xsd:string) AnnotationAssertion( "ORDO:96125"^^xsd:string) AnnotationAssertion( "6p subtelomeric deletion syndrome"^^xsd:string) AnnotationAssertion( "6p25 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "distal monosomy 6p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060422"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6pter-p24 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 6q11-q14 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19213033/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613544"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060423"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6q11-q14 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 6q24-q25 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17512813/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612863"^^xsd:string) AnnotationAssertion( "ORDO:251056"^^xsd:string) AnnotationAssertion( "6q25 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 6q25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060424"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 6q24-q25 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 8q21.11 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21802062/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614230"^^xsd:string) AnnotationAssertion( "ORDO:284160"^^xsd:string) AnnotationAssertion( "8q21.11 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060425"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 8q21.11 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 19p13.13 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613638"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060426"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 19p13.13 deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome Xp21 deletion syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17089405/"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300679"^^xsd:string) AnnotationAssertion( "ORDO:261476"^^xsd:string) AnnotationAssertion( "Xp21 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "complex glycerol kinase deficiency"^^xsd:string) AnnotationAssertion( "monosomy Xp21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060427"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome Xp21 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (SATB2-associated syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK458647/"^^xsd:string) "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567350"^^xsd:string) AnnotationAssertion( "MIM:612313"^^xsd:string) AnnotationAssertion( "MONDO:0012864"^^xsd:string) AnnotationAssertion( "ORDO:251019"^^xsd:string) AnnotationAssertion( "2q32-q33 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "2q32q33 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Glass"^^xsd:string) AnnotationAssertion( "Glass Syndrome"^^xsd:string) AnnotationAssertion( "SATB2 ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "SATB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SATB2-related disorder"^^xsd:string) AnnotationAssertion( "chromosome 2q32-q33 deletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 2q32"^^xsd:string) AnnotationAssertion( "monosomy 2q32-q33"^^xsd:string) AnnotationAssertion( "monosomy 2q32q33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060428"^^xsd:string) AnnotationAssertion(rdfs:label "SATB2-associated syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosomal duplication syndrome) AnnotationAssertion(Annotation( "https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/"^^xsd:string) "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D058674"^^xsd:string) AnnotationAssertion( "Chromosomal Duplication"^^xsd:string) AnnotationAssertion( "Chromosome Duplication"^^xsd:string) AnnotationAssertion( "chromosomal duplications"^^xsd:string) AnnotationAssertion( "chromosome duplications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060429"^^xsd:string) AnnotationAssertion(rdfs:label "chromosomal duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 16p11.2 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/16p112-duplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12388"^^xsd:string) AnnotationAssertion( "MIM:614671"^^xsd:string) AnnotationAssertion( "MONDO:0013847"^^xsd:string) AnnotationAssertion( "ORDO:370079"^^xsd:string) AnnotationAssertion( "proximal 16p11.2 microduplication syndrome"^^xsd:string) AnnotationAssertion( "proximal dup(16)(p11.2)"^^xsd:string) AnnotationAssertion( "proximal trisomy 16p11.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060430"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p11.2 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p13.3 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19833603/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613458"^^xsd:string) AnnotationAssertion( "ORDO:96078"^^xsd:string) AnnotationAssertion( "16p13.3 microduplication syndrome"^^xsd:string) AnnotationAssertion( "distal duplication 16p"^^xsd:string) AnnotationAssertion( "distal trisomy 16p"^^xsd:string) AnnotationAssertion( "telomeric duplication 16p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060431"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p13.3 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17p13.3 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19136950/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567705"^^xsd:string) AnnotationAssertion( "MIM:613215"^^xsd:string) AnnotationAssertion( "MONDO:0013182"^^xsd:string) AnnotationAssertion( "ORDO:217385"^^xsd:string) AnnotationAssertion( "17p13.3 duplication syndrome"^^xsd:string) AnnotationAssertion( "17p13.3 microduplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 17p13.3 centromeric duplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17p13.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060432"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17p13.3 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 17q12 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/17q12-duplication"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK344340/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13296"^^xsd:string) AnnotationAssertion( "MIM:614526"^^xsd:string) AnnotationAssertion( "ORDO:261272"^^xsd:string) AnnotationAssertion( "17q12 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17q12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060433"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q12 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 17q21.31 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19502243/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q92.3"^^xsd:string) AnnotationAssertion( "MIM:613533"^^xsd:string) AnnotationAssertion( "ORDO:217340"^^xsd:string) AnnotationAssertion( "17q21.31 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17q21.31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060434"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 17q21.31 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 1q21.1 duplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/1q211-microduplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612475"^^xsd:string) AnnotationAssertion( "GARD:10591"^^xsd:string) AnnotationAssertion( "MESH:C567290"^^xsd:string) AnnotationAssertion( "ORDO:250994"^^xsd:string) AnnotationAssertion( "1q21.1 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 1q21.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060435"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1q21.1 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q11.2 microduplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/22q112-duplication"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608363"^^xsd:string) AnnotationAssertion( "MESH:C567224"^^xsd:string) AnnotationAssertion( "ORDO:1727"^^xsd:string) AnnotationAssertion( "22q11.2 duplication"^^xsd:string) AnnotationAssertion( "22q11.2 microduplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 22q11.2 duplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 22q11.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060436"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q11.2 microduplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 22q13 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24153177/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615538"^^xsd:string) AnnotationAssertion( "MONDO:0014235"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060437"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 22q13 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (Cole-Carpenter syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10842295"^^xsd:string) "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535963"^^xsd:string) AnnotationAssertion( "MIM:PS112240"^^xsd:string) AnnotationAssertion( "NCI:C130985"^^xsd:string) AnnotationAssertion( "ORDO:2050"^^xsd:string) AnnotationAssertion( "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060438"^^xsd:string) AnnotationAssertion(rdfs:label "Cole-Carpenter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lysinuric protein intolerance) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1361/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1155480"^^xsd:string) "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222700"^^xsd:string) AnnotationAssertion( "GARD:3335"^^xsd:string) AnnotationAssertion( "MESH:C562687"^^xsd:string) AnnotationAssertion( "NCI:C121563"^^xsd:string) AnnotationAssertion( "ORDO:470"^^xsd:string) AnnotationAssertion( "RDO:0012291"^^xsd:string) AnnotationAssertion( "Dibasic Amino Aciduria II"^^xsd:string) AnnotationAssertion( "Hyperdibasic Aminoaciduria"^^xsd:string) AnnotationAssertion( "LPI"^^xsd:string) AnnotationAssertion( "LPI - Lysinuric Protein Intolerance"^^xsd:string) AnnotationAssertion( "SLC7A7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060439"^^xsd:string) AnnotationAssertion(rdfs:label "lysinuric protein intolerance"^^xsd:string) SubClassOf( ) # Class: (epithelial and subepithelial dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string) "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004322"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060440"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial and subepithelial dystrophy"^^xsd:string) SubClassOf( ) # Class: (epithelial-stromal TGFBI dystrophy) AnnotationAssertion(Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060441"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial-stromal TGFBI dystrophy"^^xsd:string) SubClassOf( ) # Class: (stromal dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string) "A corneal dystrophy that affects the corneal stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004324"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060442"^^xsd:string) AnnotationAssertion(rdfs:label "stromal dystrophy"^^xsd:string) SubClassOf( ) # Class: (corneal endothelial dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19236704"^^xsd:string) "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "dystrophy of corneal endothelium"^^xsd:string) AnnotationAssertion( "endothelial dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060443"^^xsd:string) AnnotationAssertion(rdfs:label "corneal endothelial dystrophy"^^xsd:string) SubClassOf( ) # Class: (granular corneal dystrophy 2) AnnotationAssertion(Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) Annotation( "https://www.omim.org/entry/607541"^^xsd:string) "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607541"^^xsd:string) AnnotationAssertion( "EFO:0004882"^^xsd:string) AnnotationAssertion( "MESH:C535474"^^xsd:string) AnnotationAssertion( "MONDO:0011855"^^xsd:string) AnnotationAssertion( "ORDO:98963"^^xsd:string) AnnotationAssertion( "ACD"^^xsd:string) AnnotationAssertion( "Avellino corneal dystrophy"^^xsd:string) AnnotationAssertion( "CDA"^^xsd:string) AnnotationAssertion( "CGD2"^^xsd:string) AnnotationAssertion( "combined granular-lattice corneal dystrophies"^^xsd:string) AnnotationAssertion( "combined granular-lattice corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Avellino type"^^xsd:string) AnnotationAssertion( "granular and lattice corneal dystrophies"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type 2"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type II"^^xsd:string) AnnotationAssertion( "granular-lattice (Avellino) corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060444"^^xsd:string) AnnotationAssertion(rdfs:label "granular corneal dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (congenital stromal corneal dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK2690/"^^xsd:string) "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610048"^^xsd:string) AnnotationAssertion( "MESH:C566452"^^xsd:string) AnnotationAssertion( "ORDO:101068"^^xsd:string) AnnotationAssertion( "CSCD"^^xsd:string) AnnotationAssertion( "congenital hereditary stromal dystrophy"^^xsd:string) AnnotationAssertion( "congenital hereditary stromal dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "congenital stromal dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "decorin-associated congenital stromal corneal dystrophy"^^xsd:string) AnnotationAssertion( "dystrophia corneae parenchymatosa congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060445"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stromal corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked endothelial corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16490493/"^^xsd:string) "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300779"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.5"^^xsd:string) AnnotationAssertion( "MESH:C567587"^^xsd:string) AnnotationAssertion( "ORDO:293621"^^xsd:string) AnnotationAssertion( "XECD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060446"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked endothelial corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelial basement membrane dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16652336/"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121820"^^xsd:string) AnnotationAssertion( "MESH:C535477"^^xsd:string) AnnotationAssertion( "ORDO:98956"^^xsd:string) AnnotationAssertion( "Cogan corneal dystrophy"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy, Map-Dot-Fingerprint Type"^^xsd:string) AnnotationAssertion( "EBMD"^^xsd:string) AnnotationAssertion( "anterior basement membrane corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Cogan type"^^xsd:string) AnnotationAssertion( "map-dot-fingerprint dystrophy of cornea"^^xsd:string) AnnotationAssertion( "microcystic corneal dystrophy"^^xsd:string) AnnotationAssertion( "microcystic dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060447"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial basement membrane dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fleck corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23288988/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26396486"^^xsd:string) "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121850"^^xsd:string) AnnotationAssertion( "MESH:C563256"^^xsd:string) AnnotationAssertion( "ORDO:98970"^^xsd:string) AnnotationAssertion( "CFD"^^xsd:string) AnnotationAssertion( "FCD"^^xsd:string) AnnotationAssertion( "Francois-Neetens corneal dystrophy, speckled or flecked"^^xsd:string) AnnotationAssertion( "Francois-Neetens speckled corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060448"^^xsd:string) AnnotationAssertion(rdfs:label "Fleck corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (gelatinous drop-like corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10192395/"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204870"^^xsd:string) AnnotationAssertion( "MESH:C535480"^^xsd:string) AnnotationAssertion( "NCI:C142805"^^xsd:string) AnnotationAssertion( "ORDO:98957"^^xsd:string) AnnotationAssertion( "CDGDL"^^xsd:string) AnnotationAssertion( "Corneal amyloidosis"^^xsd:string) AnnotationAssertion( "GDCD"^^xsd:string) AnnotationAssertion( "GDLD"^^xsd:string) AnnotationAssertion( "amyloid corneal dystrophy, Japanese type"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy type III"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy type3"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy, type 3"^^xsd:string) AnnotationAssertion( "primary familial amyloidosis of the cornea"^^xsd:string) AnnotationAssertion( "subepithelial amyloidosis of the cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060449"^^xsd:string) AnnotationAssertion(rdfs:label "gelatinous drop-like corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lisch epithelial corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11024418/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37972748/"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO)"^^xsd:string) AnnotationAssertion( "MIM:620763"^^xsd:string) AnnotationAssertion( "MESH:C567588"^^xsd:string) AnnotationAssertion( "ORDO:98955"^^xsd:string) AnnotationAssertion( "LECD"^^xsd:string) AnnotationAssertion( "band-shaped and whorled microcystic corneal epithelial dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "band-shaped and whorled microcystic"^^xsd:string) AnnotationAssertion( "DOID:0060450"^^xsd:string) AnnotationAssertion(rdfs:label "Lisch epithelial corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meesmann corneal dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9688"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.52"^^xsd:string) AnnotationAssertion( "ICD9CM:371.51"^^xsd:string) AnnotationAssertion( "MESH:D053559"^^xsd:string) AnnotationAssertion( "MIM:PS122100"^^xsd:string) AnnotationAssertion( "NCI:C84795"^^xsd:string) AnnotationAssertion( "ORDO:98954"^^xsd:string) AnnotationAssertion( "Juvenile Hereditary Epithelial Dystrophy"^^xsd:string) AnnotationAssertion( "MECD"^^xsd:string) AnnotationAssertion( "Meesman's corneal dystrophy"^^xsd:string) AnnotationAssertion( "Meesmann corneal dystrophies"^^xsd:string) AnnotationAssertion( "Meesmann corneal epithelial dystrophy"^^xsd:string) AnnotationAssertion( "Stocker-Holt dystrophy"^^xsd:string) AnnotationAssertion( "juvenile epithelial corneal dystrophy of Meesmann"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060451"^^xsd:string) AnnotationAssertion(rdfs:label "Meesmann corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (posterior amorphous corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27096414/"^^xsd:string) "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567546"^^xsd:string) AnnotationAssertion( "MIM:612868"^^xsd:string) AnnotationAssertion( "MONDO:0013027"^^xsd:string) AnnotationAssertion( "ORDO:98971"^^xsd:string) AnnotationAssertion( "PACD"^^xsd:string) AnnotationAssertion( "chromosome 12q21.33 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060452"^^xsd:string) AnnotationAssertion(rdfs:label "posterior amorphous corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Reis-Bucklers corneal dystrophy) AnnotationAssertion(Annotation( "https://www.omim.org/entry/608470"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608470"^^xsd:string) AnnotationAssertion( "MESH:C535476"^^xsd:string) AnnotationAssertion( "ORDO:98961"^^xsd:string) AnnotationAssertion( "CDB1"^^xsd:string) AnnotationAssertion( "CDRB"^^xsd:string) AnnotationAssertion( "RBCD"^^xsd:string) AnnotationAssertion( "Reis-Bucklers dystrophy"^^xsd:string) AnnotationAssertion( "anterior limiting membrane dystrophy type I"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type 1"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type I"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Reis-Bucklers type"^^xsd:string) AnnotationAssertion( "geographic corneal dystrophy"^^xsd:string) AnnotationAssertion( "granular corneal dystrophy type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060453"^^xsd:string) AnnotationAssertion(rdfs:label "Reis-Bucklers corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subepithelial mucinous corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8352693/"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612867"^^xsd:string) AnnotationAssertion( "MESH:C567547"^^xsd:string) AnnotationAssertion( "ORDO:98959"^^xsd:string) AnnotationAssertion( "SMCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060454"^^xsd:string) AnnotationAssertion(rdfs:label "subepithelial mucinous corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (Thiel-Behnke corneal dystrophy) AnnotationAssertion(Annotation( "https://www.omim.org/entry/602082"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602082"^^xsd:string) AnnotationAssertion( "MESH:C535942"^^xsd:string) AnnotationAssertion( "ORDO:98960"^^xsd:string) AnnotationAssertion( "CDB2"^^xsd:string) AnnotationAssertion( "CDTB"^^xsd:string) AnnotationAssertion( "TBCD"^^xsd:string) AnnotationAssertion( "Waardenburg-Jonker corneal dystrophy"^^xsd:string) AnnotationAssertion( "anterior limiting membrane dystrophy type II"^^xsd:string) AnnotationAssertion( "corneal dystrophy honeycomb-shaped"^^xsd:string) AnnotationAssertion( "corneal dystrophy of Bowman layer, type II"^^xsd:string) AnnotationAssertion( "corneal dystrophy of the Bowman layer, type 2"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Thiel-Behnke type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060455"^^xsd:string) AnnotationAssertion(rdfs:label "Thiel-Behnke corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schnyder corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23169578/"^^xsd:string) "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121800"^^xsd:string) AnnotationAssertion( "GARD:9277"^^xsd:string) AnnotationAssertion( "MESH:C535475"^^xsd:string) AnnotationAssertion( "ORDO:98967"^^xsd:string) AnnotationAssertion( "SCCD"^^xsd:string) AnnotationAssertion( "Schnyder crystalline corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy crystalline of Schnyder"^^xsd:string) AnnotationAssertion( "crystalline stromal dystrophy"^^xsd:string) AnnotationAssertion( "hereditary crystalline stromal dystrophy of Schnyder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060456"^^xsd:string) AnnotationAssertion(rdfs:label "Schnyder corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy"^^xsd:string) "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS122000"^^xsd:string) AnnotationAssertion( "ORDO:98973"^^xsd:string) AnnotationAssertion( "PPCD"^^xsd:string) AnnotationAssertion( "Schlichting dystrophy"^^xsd:string) AnnotationAssertion( "hereditary polymorphus posterior corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060457"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (chromosome 2q31.1 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20577005/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613681"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060458"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2q31.1 duplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 3q29 microduplication syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10360"^^xsd:string) AnnotationAssertion( "MESH:C567626"^^xsd:string) AnnotationAssertion( "MIM:611936"^^xsd:string) AnnotationAssertion( "ORDO:251038"^^xsd:string) AnnotationAssertion( "3q29 microduplication"^^xsd:string) AnnotationAssertion( "chromosome 3q29 duplication syndrome"^^xsd:string) AnnotationAssertion( "microduplication 3q29 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 3q29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060459"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 3q29 microduplication syndrome"^^xsd:string) SubClassOf( ) # Class: (chromosome 5p13 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19052029/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613174"^^xsd:string) AnnotationAssertion( "MESH:C567717"^^xsd:string) AnnotationAssertion( "ORDO:329802"^^xsd:string) AnnotationAssertion( "5p13 microduplication syndrome"^^xsd:string) AnnotationAssertion( "trisomy 5p13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060460"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 5p13 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome Xp11.23-p11.22 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19716111/"^^xsd:string) "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300801"^^xsd:string) AnnotationAssertion( "ICD10CM:Q99.8"^^xsd:string) AnnotationAssertion( "MESH:C567585"^^xsd:string) AnnotationAssertion( "ORDO:217377"^^xsd:string) AnnotationAssertion( "microduplication Xp11.22-p11.23 syndrome"^^xsd:string) AnnotationAssertion( "trisomy Xp11.22-p11.23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060461"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome Xp11.23-p11.22 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Desbuquois dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19853239"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21037275"^^xsd:string) "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1818"^^xsd:string) AnnotationAssertion( "MESH:C535943"^^xsd:string) AnnotationAssertion( "MIM:PS251450"^^xsd:string) AnnotationAssertion( "NCI:C124056"^^xsd:string) AnnotationAssertion( "ORDO:1425"^^xsd:string) AnnotationAssertion( "Desbuquois Syndrome"^^xsd:string) AnnotationAssertion( "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"^^xsd:string) AnnotationAssertion( "Desbuquois dysplasia, Kim variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060462"^^xsd:string) AnnotationAssertion(rdfs:label "Desbuquois dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NUT midline carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/NUT_midline_carcinoma"^^xsd:string) Annotation( "https://omim.org/entry/608749"^^xsd:string) Annotation( "https://omim.org/entry/608963"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21221870"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25685583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26378054"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26402248"^^xsd:string) "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005783"^^xsd:string) AnnotationAssertion( "NCI:C45716"^^xsd:string) AnnotationAssertion( "ORDO:443167"^^xsd:string) AnnotationAssertion( "nuclear protein in testis midline carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060463"^^xsd:string) AnnotationAssertion(rdfs:label "NUT midline carcinoma"^^xsd:string) SubClassOf( ) # Class: (Feingold syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/feingold-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Feingold_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14518066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16906565"^^xsd:string) "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8407"^^xsd:string) AnnotationAssertion( "MESH:C537734"^^xsd:string) AnnotationAssertion( "MIM:PS164280"^^xsd:string) AnnotationAssertion( "ORDO:1305"^^xsd:string) AnnotationAssertion( "Brunner Winter syndrome"^^xsd:string) AnnotationAssertion( "FGLDS"^^xsd:string) AnnotationAssertion( "MMT syndrome"^^xsd:string) AnnotationAssertion( "MODED"^^xsd:string) AnnotationAssertion( "MODED syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome"^^xsd:string) AnnotationAssertion( "Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome"^^xsd:string) AnnotationAssertion( "ODED"^^xsd:string) AnnotationAssertion( "ODED syndrome"^^xsd:string) AnnotationAssertion( "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum"^^xsd:string) AnnotationAssertion( "microcephaly and digital abnormalities with normal intelligence"^^xsd:string) AnnotationAssertion( "microcephaly-digital anomalies-normal intelligence syndrome"^^xsd:string) AnnotationAssertion( "microcephaly-oculo-digito-esophageal-duodenal syndrome"^^xsd:string) AnnotationAssertion( "oculo-digito-esophageal-duodenal syndrome"^^xsd:string) AnnotationAssertion( "oculo-digito-esophagoduodental (ODED) syndrome"^^xsd:string) AnnotationAssertion( "oculodigitoesophagoduodenal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060464"^^xsd:string) AnnotationAssertion(rdfs:label "Feingold syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibrochondrogenesis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fibrochondrogenesis"^^xsd:string) "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2321"^^xsd:string) AnnotationAssertion( "MESH:C562524"^^xsd:string) AnnotationAssertion( "MIM:PS228520"^^xsd:string) AnnotationAssertion( "ORDO:2021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060465"^^xsd:string) AnnotationAssertion(rdfs:label "fibrochondrogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gingival fibromatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11868160"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17385395"^^xsd:string) "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D005351"^^xsd:string) AnnotationAssertion( "MIM:PS135300"^^xsd:string) AnnotationAssertion( "ORDO:2024"^^xsd:string) AnnotationAssertion( "fibromatosis gingivae"^^xsd:string) AnnotationAssertion( "gingival fibromatoses"^^xsd:string) AnnotationAssertion( "hereditary gingival fibromatosis"^^xsd:string) AnnotationAssertion( "hereditary gingival hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060466"^^xsd:string) AnnotationAssertion(rdfs:label "gingival fibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (humeroradial synostosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis"^^xsd:string) "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143050"^^xsd:string) AnnotationAssertion( "MIM:236400"^^xsd:string) AnnotationAssertion( "GARD:2748"^^xsd:string) AnnotationAssertion( "MESH:C535284"^^xsd:string) AnnotationAssertion( "ORDO:3265"^^xsd:string) AnnotationAssertion( "Ramer Ladda syndrome"^^xsd:string) AnnotationAssertion( "humero-radial fusion"^^xsd:string) AnnotationAssertion( "humero-radial synostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060467"^^xsd:string) AnnotationAssertion(rdfs:label "humeroradial synostosis"^^xsd:string) SubClassOf( ) # Class: (Holt-Oram syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/holt-oram-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Holt-Oram_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12223419"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12436037"^^xsd:string) "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142900"^^xsd:string) AnnotationAssertion( "MIM:314600"^^xsd:string) AnnotationAssertion( "GARD:6666"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.2"^^xsd:string) AnnotationAssertion( "MESH:C535326"^^xsd:string) AnnotationAssertion( "NCI:C125592"^^xsd:string) AnnotationAssertion( "ORDO:392"^^xsd:string) AnnotationAssertion( "Atrio-Digital Syndrome"^^xsd:string) AnnotationAssertion( "Cardiac-Limb Syndrome"^^xsd:string) AnnotationAssertion( "Cervico-Oculo-Acoustic Syndrome"^^xsd:string) AnnotationAssertion( "CervicoOculoAcoustic Syndrome"^^xsd:string) AnnotationAssertion( "HOS"^^xsd:string) AnnotationAssertion( "HOS1"^^xsd:string) AnnotationAssertion( "Heart-Hand Syndrome, Type 1"^^xsd:string) AnnotationAssertion( "Heart-hand syndrome"^^xsd:string) AnnotationAssertion( "TBX5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Wildervanck syndrome"^^xsd:string) AnnotationAssertion( "atriodigital dysplasia"^^xsd:string) AnnotationAssertion( "ventriculo-radial syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060468"^^xsd:string) AnnotationAssertion(rdfs:label "Holt-Oram syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Miller-Dieker lissencephaly syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Miller-Dieker_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21239872"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9473821"^^xsd:string) "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004023"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.88"^^xsd:string) AnnotationAssertion( "MIM:247200"^^xsd:string) AnnotationAssertion( "NCI:C124852"^^xsd:string) AnnotationAssertion( "ORDO:531"^^xsd:string) AnnotationAssertion( "MDCR"^^xsd:string) AnnotationAssertion( "MDLS"^^xsd:string) AnnotationAssertion( "MDS"^^xsd:string) AnnotationAssertion( "MDS chromosome 17p13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "Miller-Dieker lissencephaly"^^xsd:string) AnnotationAssertion( "Miller-Dieker syndrome"^^xsd:string) AnnotationAssertion( "Miller-Dieker syndrome chromosome region"^^xsd:string) AnnotationAssertion( "chromosome 17p13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060469"^^xsd:string) AnnotationAssertion(rdfs:label "Miller-Dieker lissencephaly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (salt and pepper syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24026681"^^xsd:string) "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609056"^^xsd:string) AnnotationAssertion( "MESH:C563799"^^xsd:string) AnnotationAssertion( "ORDO:370938"^^xsd:string) AnnotationAssertion( "Amish infantile epilepsy syndrome"^^xsd:string) AnnotationAssertion( "GM3 Synthase Deficiency"^^xsd:string) AnnotationAssertion( "INFANTILE EPILEPSY SYNDROME"^^xsd:string) AnnotationAssertion( "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME"^^xsd:string) AnnotationAssertion( "SPDRS"^^xsd:string) AnnotationAssertion( "infantile-onset symptomatic epilepsy syndrome"^^xsd:string) AnnotationAssertion( "salt & pepper syndrome"^^xsd:string) AnnotationAssertion( "salt and pepper mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060470"^^xsd:string) AnnotationAssertion(rdfs:label "salt and pepper syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fetal valproate syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17090909"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25400349"^^xsd:string) "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609442"^^xsd:string) AnnotationAssertion( "MESH:C536525"^^xsd:string) AnnotationAssertion( "NCI:C98930"^^xsd:string) AnnotationAssertion( "ORDO:1906"^^xsd:string) AnnotationAssertion( "Valproic Acid Antenatal Infection"^^xsd:string) AnnotationAssertion( "fetal effects from dalpro"^^xsd:string) AnnotationAssertion( "fetal effects from epival"^^xsd:string) AnnotationAssertion( "fetal valproic acid syndrome"^^xsd:string) AnnotationAssertion( "fetal valproic syndrome"^^xsd:string) AnnotationAssertion( "foetal valproate syndrome"^^xsd:string) AnnotationAssertion( "foetal valproic acid syndrome"^^xsd:string) AnnotationAssertion( "valproic acid embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060471"^^xsd:string) AnnotationAssertion(rdfs:label "fetal valproate syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kindler syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Kindler_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12668616"^^xsd:string) "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)"^^xsd:string) AnnotationAssertion( "MIM:173650"^^xsd:string) AnnotationAssertion( "GARD:4391"^^xsd:string) AnnotationAssertion( "MESH:C536321"^^xsd:string) AnnotationAssertion( "ORDO:306539"^^xsd:string) AnnotationAssertion( "Bullous acrokeratotic poikiloderma of kindler and weary"^^xsd:string) AnnotationAssertion( "Congenital bullous poikiloderma"^^xsd:string) AnnotationAssertion( "FERMT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KNDLRS"^^xsd:string) AnnotationAssertion( "Kindler's syndrome"^^xsd:string) AnnotationAssertion( "Poikiloderma, congenital, with bullae, weary type"^^xsd:string) AnnotationAssertion( "Poikiloderma, hereditary acrokeratotic"^^xsd:string) AnnotationAssertion( "hereditary acrokeratotic poikiloderma of Kindler-Weary"^^xsd:string) AnnotationAssertion( "poikiloderma of Kindler"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060472"^^xsd:string) AnnotationAssertion(rdfs:label "Kindler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kabuki syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/kabuki-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Kabuki_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25281733"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25972376"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26512256"^^xsd:string) "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6810"^^xsd:string) AnnotationAssertion( "MESH:C537705"^^xsd:string) AnnotationAssertion( "MIM:PS147920"^^xsd:string) AnnotationAssertion( "NCI:C124837"^^xsd:string) AnnotationAssertion( "ORDO:2322"^^xsd:string) AnnotationAssertion( "KMS"^^xsd:string) AnnotationAssertion( "Kabuki make up syndrome"^^xsd:string) AnnotationAssertion( "Kabuki makeup syndrome"^^xsd:string) AnnotationAssertion( "Niikawa-Kuroki syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060473"^^xsd:string) AnnotationAssertion(rdfs:label "Kabuki syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15725900"^^xsd:string) "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:263400"^^xsd:string) AnnotationAssertion( "MESH:C563918"^^xsd:string) AnnotationAssertion( "ORDO:238557"^^xsd:string) AnnotationAssertion( "Chuvash erythromatosis"^^xsd:string) AnnotationAssertion( "Chuvash polycythemia"^^xsd:string) AnnotationAssertion( "Chuvash type polycythemia"^^xsd:string) AnnotationAssertion( "ECYT2"^^xsd:string) AnnotationAssertion( "autosomal recessive benign erythrocytosis"^^xsd:string) AnnotationAssertion( "familial erythrocytosis 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "polycythemia, VHL-dependent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060474"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoclonic-atonic epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK589173/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23708187"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24207121"^^xsd:string) "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002731"^^xsd:string) AnnotationAssertion( "MIM:616421"^^xsd:string) AnnotationAssertion( "NCI:C165674"^^xsd:string) AnnotationAssertion( "NCI:C172100"^^xsd:string) AnnotationAssertion( "EEOC"^^xsd:string) AnnotationAssertion( "ELS"^^xsd:string) AnnotationAssertion( "GENERALIZED MYOCLONIC-ATONIC SEIZURE"^^xsd:string) AnnotationAssertion( "IECEE"^^xsd:string) AnnotationAssertion( "MAE"^^xsd:string) AnnotationAssertion( "SLC6A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SLC6A1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "childhood onset epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "early life seizures"^^xsd:string) AnnotationAssertion( "early onset epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "infantile or early childhood epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "myoclonic-atonic seizure"^^xsd:string) AnnotationAssertion( "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "infantile epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "infantile spasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060475"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic-atonic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perlman syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Perlman_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18780370"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22306653"^^xsd:string) "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:267000"^^xsd:string) AnnotationAssertion( "GARD:3936"^^xsd:string) AnnotationAssertion( "MESH:C536399"^^xsd:string) AnnotationAssertion( "NCI:C103144"^^xsd:string) AnnotationAssertion( "ORDO:2849"^^xsd:string) AnnotationAssertion( "PRLMNS"^^xsd:string) AnnotationAssertion( "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor"^^xsd:string) AnnotationAssertion( "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor"^^xsd:string) AnnotationAssertion( "renal hamartomas, nephroblastomatosis, and fetal gigantism"^^xsd:string) AnnotationAssertion( "PREDISPOSITION TO WILMS TUMOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060476"^^xsd:string) AnnotationAssertion(rdfs:label "Perlman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zika fever) AnnotationAssertion(Annotation( "http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/zika/en/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Zika_fever"^^xsd:string) Annotation( "https://www.cdc.gov/zika/about/"^^xsd:string) "A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.8"^^xsd:string) AnnotationAssertion( "MESH:D000071243"^^xsd:string) AnnotationAssertion( "Zika virus disease"^^xsd:string) AnnotationAssertion( "Zika virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060478"^^xsd:string) AnnotationAssertion(rdfs:label "Zika fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Shwachman-Diamond syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18356737"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22201042"^^xsd:string) "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080023"^^xsd:string) AnnotationAssertion( "MIM:260400"^^xsd:string) AnnotationAssertion( "GARD:4863"^^xsd:string) AnnotationAssertion( "MESH:D000081003"^^xsd:string) AnnotationAssertion( "MIM:PS260400"^^xsd:string) AnnotationAssertion( "NCI:C61235"^^xsd:string) AnnotationAssertion( "SDS"^^xsd:string) AnnotationAssertion( "SDS1"^^xsd:string) AnnotationAssertion( "Shwachman syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Bodian syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Bodian-Diamond syndrome"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond syndrome 1"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond type metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond-Oski syndrome"^^xsd:string) AnnotationAssertion( "congenital lipomatosis of pancreas"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia, Shwachman type"^^xsd:string) AnnotationAssertion( "pancreatic insufficiency and bone marrow dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060479"^^xsd:string) AnnotationAssertion(rdfs:label "Shwachman-Diamond syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (left ventricular noncompaction) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16567565"^^xsd:string) "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002632"^^xsd:string) AnnotationAssertion( "EFO:0004686"^^xsd:string) AnnotationAssertion( "GARD:10985"^^xsd:string) AnnotationAssertion( "HP:0011664"^^xsd:string) AnnotationAssertion( "MIM:PS604169"^^xsd:string) AnnotationAssertion( "MONDO:0018901"^^xsd:string) AnnotationAssertion( "ORDO:54260"^^xsd:string) AnnotationAssertion( "LVNC"^^xsd:string) AnnotationAssertion( "left ventricular hypertrabeculation"^^xsd:string) AnnotationAssertion( "ncCM"^^xsd:string) AnnotationAssertion( "non-compaction cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060480"^^xsd:string) AnnotationAssertion(rdfs:label "left ventricular noncompaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Goldberg-Shprintzen syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15883926"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23427148"^^xsd:string) "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609460"^^xsd:string) AnnotationAssertion( "GARD:9849"^^xsd:string) AnnotationAssertion( "MESH:C537279"^^xsd:string) AnnotationAssertion( "ORDO:66629"^^xsd:string) AnnotationAssertion( "GOSHS"^^xsd:string) AnnotationAssertion( "Goldberg-Shprintzen megacolon syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060481"^^xsd:string) AnnotationAssertion(rdfs:label "Goldberg-Shprintzen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculoauricular syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18423520"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25574057"^^xsd:string) "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612109"^^xsd:string) AnnotationAssertion( "MESH:C567416"^^xsd:string) AnnotationAssertion( "ORDO:157962"^^xsd:string) AnnotationAssertion( "OCACS"^^xsd:string) AnnotationAssertion( "SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME"^^xsd:string) AnnotationAssertion( "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060482"^^xsd:string) AnnotationAssertion(rdfs:label "oculoauricular syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MEDNIK syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23423674"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24754424"^^xsd:string) "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609313"^^xsd:string) AnnotationAssertion( "MESH:C563739"^^xsd:string) AnnotationAssertion( "ORDO:171851"^^xsd:string) AnnotationAssertion( "EKV3"^^xsd:string) AnnotationAssertion( "MEDNIK"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis 3"^^xsd:string) AnnotationAssertion( "erythrokeratodermia variabilis, Kamouraska type"^^xsd:string) AnnotationAssertion( "impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma"^^xsd:string) AnnotationAssertion( "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"^^xsd:string) AnnotationAssertion( "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060483"^^xsd:string) AnnotationAssertion(rdfs:label "MEDNIK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (EAST syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19289823"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19420365"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23471908"^^xsd:string) "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612780"^^xsd:string) AnnotationAssertion( "OMIA:002089"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorder"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C557674"^^xsd:string) AnnotationAssertion( "ORDO:199343"^^xsd:string) AnnotationAssertion( "SESAMES"^^xsd:string) AnnotationAssertion( "SeSAME syndrome"^^xsd:string) AnnotationAssertion( "epilepsy, ataxia, sensorineural deafness and tubulopathy"^^xsd:string) AnnotationAssertion( "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome"^^xsd:string) AnnotationAssertion( "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, KCNJ10-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SESAME-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:0060484"^^xsd:string) AnnotationAssertion(rdfs:label "EAST syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mowat-Wilson syndrome) AnnotationAssertion(Annotation( "https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17958891"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23466526"^^xsd:string) "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235730"^^xsd:string) AnnotationAssertion( "GARD:9673"^^xsd:string) AnnotationAssertion( "MESH:C536990"^^xsd:string) AnnotationAssertion( "NCI:C74999"^^xsd:string) AnnotationAssertion( "ORDO:2152"^^xsd:string) AnnotationAssertion( "Hirschsprung disease mental retardation syndrome"^^xsd:string) AnnotationAssertion( "MOWS"^^xsd:string) AnnotationAssertion( "ZEB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease"^^xsd:string) AnnotationAssertion( "microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease"^^xsd:string) AnnotationAssertion( "Hirschsprung disease-mental retardation syndrome, late infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060485"^^xsd:string) AnnotationAssertion(rdfs:label "Mowat-Wilson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perry syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK47027/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/perry-syndrome"^^xsd:string) "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:168605"^^xsd:string) AnnotationAssertion( "GARD:10453"^^xsd:string) AnnotationAssertion( "MESH:C566822"^^xsd:string) AnnotationAssertion( "ORDO:178509"^^xsd:string) AnnotationAssertion( "parkinsonism with alveolar hypoventilation and mental depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060486"^^xsd:string) AnnotationAssertion(rdfs:label "Perry syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pitt-Hopkins syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17436255"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26621827"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/728011"^^xsd:string) "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610954"^^xsd:string) AnnotationAssertion( "GARD:4372"^^xsd:string) AnnotationAssertion( "MESH:C537403"^^xsd:string) AnnotationAssertion( "NCI:C129872"^^xsd:string) AnnotationAssertion( "ORDO:2896"^^xsd:string) AnnotationAssertion( "PTHS"^^xsd:string) AnnotationAssertion( "severe epileptic encephalopathy, with autonomic dysfunction"^^xsd:string) AnnotationAssertion( "syndromal mental retardation, with intermittent hyperventilation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Pitt-Hopkins-like syndrome"^^xsd:string) AnnotationAssertion( "DOID:0060488"^^xsd:string) AnnotationAssertion(rdfs:label "Pitt-Hopkins syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schimke immuno-osseous dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1376/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10653321"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242900"^^xsd:string) AnnotationAssertion( "GARD:4984"^^xsd:string) AnnotationAssertion( "MESH:C536629"^^xsd:string) AnnotationAssertion( "NCI:C135087"^^xsd:string) AnnotationAssertion( "ORDO:1830"^^xsd:string) AnnotationAssertion( "SIOD"^^xsd:string) AnnotationAssertion( "Schimke immunoosseous dysplasia"^^xsd:string) AnnotationAssertion( "Schimke syndrome"^^xsd:string) AnnotationAssertion( "immunoosseous dysplasia Schimke type"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia - nephrotic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060490"^^xsd:string) AnnotationAssertion(rdfs:label "Schimke immuno-osseous dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (SPOAN syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15852396"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26385635"^^xsd:string) "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609541"^^xsd:string) AnnotationAssertion( "RDO:0012893"^^xsd:string) AnnotationAssertion( "MESH:C563702"^^xsd:string) AnnotationAssertion( "ORDO:320406"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atrophy, and neuropathy"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atrophy, and neuropathy syndrome"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atropy, and neuropathy"^^xsd:string) AnnotationAssertion( "spastic paraplegia, optic atropy, and neuropathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060491"^^xsd:string) AnnotationAssertion(rdfs:label "SPOAN syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chicken egg allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Egg_allergy"^^xsd:string) "An egg allergy triggered by Gallus gallus eggs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003473"^^xsd:string) AnnotationAssertion( "Gallus gallus egg allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060492"^^xsd:string) AnnotationAssertion(rdfs:label "chicken egg allergy"^^xsd:string) SubClassOf( ) # Class: (shellfish allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string) "A food allergy triggered by Crustacea or Mollusca. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000067208"^^xsd:string) AnnotationAssertion( "shellfish allergies"^^xsd:string) AnnotationAssertion( "shellfish hypersensitivities"^^xsd:string) AnnotationAssertion( "shellfish hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060495"^^xsd:string) AnnotationAssertion(rdfs:label "shellfish allergy"^^xsd:string) SubClassOf( ) # Class: (respiratory allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25006500"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28187789"^^xsd:string) "An allergic disease that is located_in the respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012130"^^xsd:string) AnnotationAssertion( "airway allergy"^^xsd:string) AnnotationAssertion( "airway hyper responsiveness"^^xsd:string) AnnotationAssertion( "respiratory hypersensitivities"^^xsd:string) AnnotationAssertion( "respiratory hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "allergic lung disease"^^xsd:string) AnnotationAssertion( "DOID:0060496"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pollen allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types-allergies/pollen-allergy"^^xsd:string) Annotation( "https://www.aafa.org/pollen-allergy/"^^xsd:string) "A respiratory allergy triggered by pollen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "pollen allergies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060497"^^xsd:string) AnnotationAssertion(rdfs:label "pollen allergy"^^xsd:string) SubClassOf( ) # Class: (Timothy grass allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25685162"^^xsd:string) "A pollen allergy triggered by Phleum pratense pollen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060498"^^xsd:string) AnnotationAssertion(rdfs:label "Timothy grass allergy"^^xsd:string) SubClassOf( ) # Class: (autoimmune neuropathy) AnnotationAssertion(Annotation( "https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28601415"^^xsd:string) "An autoimmune disease of central nervous system caused by an autoimmune response. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002713"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060499"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune neuropathy"^^xsd:string) SubClassOf( ) # Class: (drug allergy) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835"^^xsd:string) "An allergic disease that is triggered by a drug. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009482"^^xsd:string) AnnotationAssertion( "MESH:D004342"^^xsd:string) AnnotationAssertion( "Drug Allergies"^^xsd:string) AnnotationAssertion( "Drug Hypersensitivities"^^xsd:string) AnnotationAssertion( "Drug Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060500"^^xsd:string) AnnotationAssertion(rdfs:label "drug allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (metal allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27228132"^^xsd:string) "An allergic disease that is triggered by a metal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060501"^^xsd:string) AnnotationAssertion(rdfs:label "metal allergy"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18721321"^^xsd:string) "An allergic disease that is located_in the gastrointestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060502"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal allergy"^^xsd:string) SubClassOf( ) # Class: (fruit allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26022876"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string) "A food allergy triggered by a plant fruit product. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060503"^^xsd:string) AnnotationAssertion(rdfs:label "fruit allergy"^^xsd:string) SubClassOf( ) # Class: (apple allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29130794"^^xsd:string) "A fruit allergy triggered by Malus domestica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Malus domestica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060504"^^xsd:string) AnnotationAssertion(rdfs:label "apple allergy"^^xsd:string) SubClassOf( ) # Class: (apricot allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30611476"^^xsd:string) "A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus armeniaca fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060505"^^xsd:string) AnnotationAssertion(rdfs:label "apricot allergy"^^xsd:string) SubClassOf( ) # Class: (cherry allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30093847"^^xsd:string) "A fruit allergy triggered by Prunus avium plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus avium fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060506"^^xsd:string) AnnotationAssertion(rdfs:label "cherry allergy"^^xsd:string) SubClassOf( ) # Class: (Indian plum allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fruit_allergy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14976388"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24696647"^^xsd:string) "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Ziziphus mauritiana fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060507"^^xsd:string) AnnotationAssertion(rdfs:label "Indian plum allergy"^^xsd:string) SubClassOf( ) # Class: (orange allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30099793"^^xsd:string) "A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Citrus sinensis fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060508"^^xsd:string) AnnotationAssertion(rdfs:label "orange allergy"^^xsd:string) SubClassOf( ) # Class: (melon allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549334"^^xsd:string) "A fruit allergy triggered by Cucumis melo plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Cucumis melo fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060509"^^xsd:string) AnnotationAssertion(rdfs:label "melon allergy"^^xsd:string) SubClassOf( ) # Class: (peach allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30672059"^^xsd:string) "A fruit allergy triggered by Prunus persica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus persica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060510"^^xsd:string) AnnotationAssertion(rdfs:label "peach allergy"^^xsd:string) SubClassOf( ) # Class: (plum allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27"^^xsd:string) "A fruit allergy triggered by Prunus domestica plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "Prunus domestica fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060511"^^xsd:string) AnnotationAssertion(rdfs:label "plum allergy"^^xsd:string) SubClassOf( ) # Class: (tomato allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12001794"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23653972"^^xsd:string) "A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Solanum lycopersicum fruit allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060512"^^xsd:string) AnnotationAssertion(rdfs:label "tomato allergy"^^xsd:string) SubClassOf( ) # Class: (fish allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string) "A food allergy triggered by fish. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060513"^^xsd:string) AnnotationAssertion(rdfs:label "fish allergy"^^xsd:string) SubClassOf( ) # Class: (Atlantic cod allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string) "A fish allergy triggered by Gadus morhua. (DO)"^^xsd:string) AnnotationAssertion( "Gadus morhua fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060514"^^xsd:string) AnnotationAssertion(rdfs:label "Atlantic cod allergy"^^xsd:string) SubClassOf( ) # Class: (Atlantic salmon allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string) "A fish allergy triggered by Salmo salar. (DO)"^^xsd:string) AnnotationAssertion( "Salmo salar fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060515"^^xsd:string) AnnotationAssertion(rdfs:label "Atlantic salmon allergy"^^xsd:string) SubClassOf( ) # Class: (carp allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string) "A fish allergy triggered by Cyprinus carpio. (DO)"^^xsd:string) AnnotationAssertion( "Cyprinus carpio fish allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060516"^^xsd:string) AnnotationAssertion(rdfs:label "carp allergy"^^xsd:string) SubClassOf( ) # Class: (zebrafish allergy) AnnotationAssertion(Annotation( "https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy"^^xsd:string) "A fish allergy triggered by Danio rerio. (DO)"^^xsd:string) AnnotationAssertion( "Danio rerio allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060517"^^xsd:string) AnnotationAssertion(rdfs:label "zebrafish allergy"^^xsd:string) SubClassOf( ) # Class: (rainbow trout allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24795722"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26111497"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30323632"^^xsd:string) "A fish allergy triggered by Oncorhynchus mykiss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "Oncorhynchus mykiss allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060518"^^xsd:string) AnnotationAssertion(rdfs:label "rainbow trout allergy"^^xsd:string) SubClassOf( ) # Class: (beta-lactam allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity"^^xsd:string) Annotation( "https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31009700"^^xsd:string) "A drug allergy triggered by a beta-lactam. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003962"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060519"^^xsd:string) AnnotationAssertion(rdfs:label "beta-lactam allergy"^^xsd:string) SubClassOf( ) # Class: (penicillin allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222"^^xsd:string) "A beta-lactam allergy triggered by penicillin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060520"^^xsd:string) AnnotationAssertion(rdfs:label "penicillin allergy"^^xsd:string) SubClassOf( ) # Class: (cow milk allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31083388"^^xsd:string) "A milk allergy triggered by Bos taurus milk. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Bos taurus milk allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060521"^^xsd:string) AnnotationAssertion(rdfs:label "cow milk allergy"^^xsd:string) SubClassOf( ) # Class: (goat milk allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17002714"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24372684"^^xsd:string) "A milk allergy triggered by Capra hircus milk. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "Capra hircus milk allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060522"^^xsd:string) AnnotationAssertion(rdfs:label "goat milk allergy"^^xsd:string) SubClassOf( ) # Class: (mollusc allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string) "A shellfish allergy triggered by Mollusca. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060523"^^xsd:string) AnnotationAssertion(rdfs:label "mollusc allergy"^^xsd:string) SubClassOf( ) # Class: (crustacean allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30893087"^^xsd:string) "A shellfish allergy triggered by Crustacea. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060524"^^xsd:string) AnnotationAssertion(rdfs:label "crustacean allergy"^^xsd:string) SubClassOf( ) # Class: (brown shrimp allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) "A crustacean allergy triggered by Farfantepenaeus aztecus. (DO)"^^xsd:string) AnnotationAssertion( "Farfantepenaeus aztecus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060525"^^xsd:string) AnnotationAssertion(rdfs:label "brown shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (crab allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25728640"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) "A crustacean allergy triggered by Scylla paramamosain. (DO)"^^xsd:string) AnnotationAssertion( "Scylla paramamosain allergy"^^xsd:string) AnnotationAssertion( "green mud crab allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060526"^^xsd:string) AnnotationAssertion(rdfs:label "crab allergy"^^xsd:string) SubClassOf( ) # Class: (Indian prawn allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) "A crustacean allergy triggered by Fenneropenaeus indicus. (DO)"^^xsd:string) AnnotationAssertion( "Fenneropenaeus indicus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060527"^^xsd:string) AnnotationAssertion(rdfs:label "Indian prawn allergy"^^xsd:string) SubClassOf( ) # Class: (tiger prawn allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22135598"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29178679"^^xsd:string) "A crustacean allergy triggered by Penaeus monodon. (DO)"^^xsd:string) AnnotationAssertion( "Penaeus monodon allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060528"^^xsd:string) AnnotationAssertion(rdfs:label "tiger prawn allergy"^^xsd:string) SubClassOf( ) # Class: (white shrimp allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20471069"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28027402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29858102"^^xsd:string) "A crustacean allergy triggered by Litopenaeus vannamei. (DO)"^^xsd:string) AnnotationAssertion( "Litopenaeus vannamei allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060529"^^xsd:string) AnnotationAssertion(rdfs:label "white shrimp allergy"^^xsd:string) SubClassOf( ) # Class: (snail allergy) AnnotationAssertion(Annotation( "http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15591808"^^xsd:string) "A mollusc allergy triggered by snails. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060530"^^xsd:string) AnnotationAssertion(rdfs:label "snail allergy"^^xsd:string) SubClassOf( ) # Class: (horned turban snail allergy) AnnotationAssertion(Annotation( "https://farrp.unl.edu/informallmollshellfish"^^xsd:string) "A snail allergy triggered by the horned turban snail. (DO)"^^xsd:string) AnnotationAssertion( "Turbo cornutus allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060531"^^xsd:string) AnnotationAssertion(rdfs:label "horned turban snail allergy"^^xsd:string) SubClassOf( ) # Class: (latex allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Latex_allergy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27010091"^^xsd:string) "An allergic disease that is triggered by latex. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020315"^^xsd:string) AnnotationAssertion( "Latex Hypersensitivities"^^xsd:string) AnnotationAssertion( "Latex Hypersensitivity"^^xsd:string) AnnotationAssertion( "Natural Rubber Latex Allergy"^^xsd:string) AnnotationAssertion( "Rubber Allergies"^^xsd:string) AnnotationAssertion( "Rubber Allergy"^^xsd:string) AnnotationAssertion( "Rubber Latex Allergies"^^xsd:string) AnnotationAssertion( "latex allergies"^^xsd:string) AnnotationAssertion( "rubber latex allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060532"^^xsd:string) AnnotationAssertion(rdfs:label "latex allergy"^^xsd:string) SubClassOf( ) # Class: (hepatoid adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000293"^^xsd:string) AnnotationAssertion( "ICDO:8576/3"^^xsd:string) AnnotationAssertion( "NCI:C66950"^^xsd:string) AnnotationAssertion( "RDO:9001983"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060534"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Warsaw breakage syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20137776"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21490908"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033317"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26089203"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31169992"^^xsd:string) "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13708"^^xsd:string) AnnotationAssertion( "MIM:613398"^^xsd:string) AnnotationAssertion( "NCI:C164675"^^xsd:string) AnnotationAssertion( "ORDO:280558"^^xsd:string) AnnotationAssertion( "WABS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060535"^^xsd:string) AnnotationAssertion(rdfs:label "Warsaw breakage syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex I deficiency) AnnotationAssertion(Annotation( "http://www.omim.org/entry/252010"^^xsd:string) "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3908"^^xsd:string) AnnotationAssertion( "MESH:C537475"^^xsd:string) AnnotationAssertion( "ORDO:2609"^^xsd:string) AnnotationAssertion( "NADH-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "NADH:Q(1) oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of mitochondrial NADH dehydrogenase component of complex I"^^xsd:string) AnnotationAssertion( "isolated NADH-CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated NADH-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated NADH-ubiquinone reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated mitochondrial respiratory chain complex I deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial oxidative phosphorylation disorder"^^xsd:string) AnnotationAssertion( "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT"^^xsd:string) AnnotationAssertion( "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060536"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex I deficiency"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex II deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23322652"^^xsd:string) "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5053"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.3"^^xsd:string) AnnotationAssertion( "MESH:C565375"^^xsd:string) AnnotationAssertion( "MIM:PS252011"^^xsd:string) AnnotationAssertion( "ORDO:3208"^^xsd:string) AnnotationAssertion( "isolated mitochondrial respiratory chain complex II deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-coenzyme Q reductase deficiency"^^xsd:string) AnnotationAssertion( "isolated succinate-ubiquinone reductase deficiency"^^xsd:string) AnnotationAssertion( "succinate CoQ reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060537"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex II deficiency"^^xsd:string) SubClassOf( ) # Class: (purpura fulminans) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Purpura_fulminans"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26955583"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566"^^xsd:string) "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001913"^^xsd:string) AnnotationAssertion( "ICD10CM:D65"^^xsd:string) AnnotationAssertion( "MESH:D055665"^^xsd:string) AnnotationAssertion( "ORDO:49566"^^xsd:string) AnnotationAssertion( "purpura gangrenosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060538"^^xsd:string) AnnotationAssertion(rdfs:label "purpura fulminans"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 1) AnnotationAssertion(Annotation( "http://omim.org/entry/203300"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203300"^^xsd:string) AnnotationAssertion( "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "MESH:C538539"^^xsd:string) AnnotationAssertion( "NCI:C150367"^^xsd:string) AnnotationAssertion( "HPS1"^^xsd:string) AnnotationAssertion( "HPS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells"^^xsd:string) AnnotationAssertion( "delta storage pool disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060539"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 2) AnnotationAssertion(Annotation( "http://omim.org/entry/608233"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608233"^^xsd:string) AnnotationAssertion( "MESH:C537709"^^xsd:string) AnnotationAssertion( "NCI:C150368"^^xsd:string) AnnotationAssertion( "ORDO:183678"^^xsd:string) AnnotationAssertion( "HPS2"^^xsd:string) AnnotationAssertion( "Hermansky-Pudlak syndrome with neutropenia"^^xsd:string) AnnotationAssertion( "Platelet defects and oculocutaneous albinism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060540"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 3) AnnotationAssertion(Annotation( "http://omim.org/entry/614072"^^xsd:string) "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614072"^^xsd:string) AnnotationAssertion( "HPS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060541"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 4) AnnotationAssertion(Annotation( "http://omim.org/entry/614073"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)"^^xsd:string) AnnotationAssertion( "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "MIM:614073"^^xsd:string) AnnotationAssertion( "HPS4"^^xsd:string) AnnotationAssertion( "HPS4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060542"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 5) AnnotationAssertion(Annotation( "http://omim.org/entry/614074"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614074"^^xsd:string) AnnotationAssertion( "HPS5"^^xsd:string) AnnotationAssertion( "HPS5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060543"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 6) AnnotationAssertion(Annotation( "http://omim.org/entry/614075"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614075"^^xsd:string) AnnotationAssertion( "NCI:C150369"^^xsd:string) AnnotationAssertion( "HPS6"^^xsd:string) AnnotationAssertion( "HPS6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060544"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 7) AnnotationAssertion(Annotation( "http://omim.org/entry/614076"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614076"^^xsd:string) AnnotationAssertion( "DTNBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060545"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 8) AnnotationAssertion(Annotation( "http://omim.org/entry/614077"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614077"^^xsd:string) AnnotationAssertion( "BLOC1S3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060546"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome 9) AnnotationAssertion(Annotation( "http://omim.org/entry/614171"^^xsd:string) "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614171"^^xsd:string) AnnotationAssertion( "HPS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060547"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome 9"^^xsd:string) SubClassOf( ) # Class: (luminal breast carcinoma A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/"^^xsd:string) "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "breast tumor luminal"^^xsd:string) AnnotationAssertion( "luminal breast cancer"^^xsd:string) AnnotationAssertion( "NCI:C53554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060548"^^xsd:string) AnnotationAssertion(rdfs:label "luminal breast carcinoma A"^^xsd:string) SubClassOf( ) # Class: (Barber-Say syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27196381"^^xsd:string) "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209885"^^xsd:string) AnnotationAssertion( "GARD:819"^^xsd:string) AnnotationAssertion( "MESH:C537908"^^xsd:string) AnnotationAssertion( "ORDO:1231"^^xsd:string) AnnotationAssertion( "BBRSAY"^^xsd:string) AnnotationAssertion( "BSS"^^xsd:string) AnnotationAssertion( "hypertrichosis, atrophic skin, ectropion, and macrostomia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060549"^^xsd:string) AnnotationAssertion(rdfs:label "Barber-Say syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ablepharon macrostomia syndrome) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27196381"^^xsd:string) "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200110"^^xsd:string) AnnotationAssertion( "GARD:3"^^xsd:string) AnnotationAssertion( "MESH:C535557"^^xsd:string) AnnotationAssertion( "ORDO:920"^^xsd:string) AnnotationAssertion( "AMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060550"^^xsd:string) AnnotationAssertion(rdfs:label "ablepharon macrostomia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (poikiloderma with neutropenia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20734427"^^xsd:string) "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538345"^^xsd:string) AnnotationAssertion( "MIM:604173"^^xsd:string) AnnotationAssertion( "GARD:4085"^^xsd:string) AnnotationAssertion( "MESH:C565820"^^xsd:string) AnnotationAssertion( "NCI:C177535"^^xsd:string) AnnotationAssertion( "ORDO:221046"^^xsd:string) AnnotationAssertion( "Navajo Poikiloderma"^^xsd:string) AnnotationAssertion( "Navajo immune deficient poikiloderma"^^xsd:string) AnnotationAssertion( "PN"^^xsd:string) AnnotationAssertion( "poikiloderma with neutropenia, Clericuzio-type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060551"^^xsd:string) AnnotationAssertion(rdfs:label "poikiloderma with neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kufor-Rakeb syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15986421"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23791710"^^xsd:string) "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606693"^^xsd:string) AnnotationAssertion( "ATP13A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537177"^^xsd:string) AnnotationAssertion( "NCI:C203534"^^xsd:string) AnnotationAssertion( "ORDO:306674"^^xsd:string) AnnotationAssertion( "KRPPD"^^xsd:string) AnnotationAssertion( "KRS"^^xsd:string) AnnotationAssertion( "PARK9"^^xsd:string) AnnotationAssertion( "Parkinson disease 9"^^xsd:string) AnnotationAssertion( "Parkinson's disease 9"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease 9"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease 9, juvenile onset"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson's disease 9, juvenile-onset"^^xsd:string) AnnotationAssertion( "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060556"^^xsd:string) AnnotationAssertion(rdfs:label "Kufor-Rakeb syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ataxia with oculomotor apraxia type 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615217"^^xsd:string) AnnotationAssertion( "AOA3"^^xsd:string) AnnotationAssertion( "ataxia-oculomotor apraxia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060557"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia with oculomotor apraxia type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22610851"^^xsd:string) "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12643"^^xsd:string) AnnotationAssertion( "ICD10CM:Q68.8"^^xsd:string) AnnotationAssertion( "MIM:PS253310"^^xsd:string) AnnotationAssertion( "ORDO:294965"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060558"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9683599"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "GLE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GLE1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:3227"^^xsd:string) AnnotationAssertion( "MESH:C537194"^^xsd:string) AnnotationAssertion( "MIM:253310"^^xsd:string) AnnotationAssertion( "MONDO:0009670"^^xsd:string) AnnotationAssertion( "ORDO:1486"^^xsd:string) AnnotationAssertion( "LCCS"^^xsd:string) AnnotationAssertion( "LCCS1"^^xsd:string) AnnotationAssertion( "LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE"^^xsd:string) AnnotationAssertion( "lethal autosomal recessive syndrome of multiple congenital contractures"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Finnish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060559"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 1"^^xsd:string) SubClassOf( ) # Class: (lethal congenital contracture syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15378541"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17701904"^^xsd:string) "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607598"^^xsd:string) AnnotationAssertion( "GARD:9177"^^xsd:string) AnnotationAssertion( "MESH:C564369"^^xsd:string) AnnotationAssertion( "ORDO:137776"^^xsd:string) AnnotationAssertion( "LCCS2"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli Bedouin type A"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli-Bedouin type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060560"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (anomalous left coronary artery from the pulmonary artery) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery"^^xsd:string) "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000080038"^^xsd:string) AnnotationAssertion( "MESH:D063748"^^xsd:string) AnnotationAssertion( "ALCAPA"^^xsd:string) AnnotationAssertion( "ALCAPA syndrome"^^xsd:string) AnnotationAssertion( "ALCAPA syndromes"^^xsd:string) AnnotationAssertion( "Bland White Garland syndrome"^^xsd:string) AnnotationAssertion( "White-Garland syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060562"^^xsd:string) AnnotationAssertion(rdfs:label "anomalous left coronary artery from the pulmonary artery"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Char syndrome) AnnotationAssertion(Annotation( "https://omim.org/entry/169100"^^xsd:string) "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169100"^^xsd:string) AnnotationAssertion( "GARD:1237"^^xsd:string) AnnotationAssertion( "MESH:C566815"^^xsd:string) AnnotationAssertion( "CHAR"^^xsd:string) AnnotationAssertion( "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060563"^^xsd:string) AnnotationAssertion(rdfs:label "Char syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinal disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Spinal_disease"^^xsd:string) "A bone disease that is located_in the spine. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013122"^^xsd:string) AnnotationAssertion( "spinal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060564"^^xsd:string) AnnotationAssertion(rdfs:label "spinal disease"^^xsd:string) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/3C_syndrome"^^xsd:string) "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535313"^^xsd:string) AnnotationAssertion( "MIM:PS220210"^^xsd:string) AnnotationAssertion( "ORDO:7"^^xsd:string) AnnotationAssertion( "3C syndrome"^^xsd:string) AnnotationAssertion( "CCC dysplasia"^^xsd:string) AnnotationAssertion( "Craniocerebellocardiac dysplasia"^^xsd:string) AnnotationAssertion( "Dandy-Walker-like malformation with atrioventricular septal defect"^^xsd:string) AnnotationAssertion( "RTSC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060565"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Holzgreve-Wagner-Rehder syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3232694"^^xsd:string) "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236110"^^xsd:string) AnnotationAssertion( "RDO:0000383"^^xsd:string) AnnotationAssertion( "MESH:C535327"^^xsd:string) AnnotationAssertion( "ORDO:2167"^^xsd:string) AnnotationAssertion( "Complex congenital heart defect, renal agenesis, and cleft lip and palate"^^xsd:string) AnnotationAssertion( "Holzgreve syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060566"^^xsd:string) AnnotationAssertion(rdfs:label "Holzgreve-Wagner-Rehder syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythema elevatum diutinum) AnnotationAssertion(Annotation( "http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html"^^xsd:string) "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8653"^^xsd:string) AnnotationAssertion( "ICD10CM:L95.1"^^xsd:string) AnnotationAssertion( "MESH:C535509"^^xsd:string) AnnotationAssertion( "ORDO:90000"^^xsd:string) AnnotationAssertion( "RDO:0000655"^^xsd:string) AnnotationAssertion( "Extracellular cholesterosis"^^xsd:string) AnnotationAssertion( "Leukocytoclastic vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060567"^^xsd:string) AnnotationAssertion(rdfs:label "erythema elevatum diutinum"^^xsd:string) SubClassOf( ) # Class: (hypertrichotic osteochondrodysplasia Cantu type) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/cantu-syndrome"^^xsd:string) "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:239850"^^xsd:string) AnnotationAssertion( "GARD:8585"^^xsd:string) AnnotationAssertion( "MESH:C535572"^^xsd:string) AnnotationAssertion( "RDO:0000771"^^xsd:string) AnnotationAssertion( "Cantu syndrome"^^xsd:string) AnnotationAssertion( "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome"^^xsd:string) AnnotationAssertion( "Hypertrichotic osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060569"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrichotic osteochondrodysplasia Cantu type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cardiac tuberculosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28814447/"^^xsd:string) "A tuberculosis located in the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001442"^^xsd:string) AnnotationAssertion( "MESH:D014381"^^xsd:string) AnnotationAssertion( "cardiovascular tuberculoses"^^xsd:string) AnnotationAssertion( "cardiovascular tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060570"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24065355"^^xsd:string) "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "WASHC5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:220210"^^xsd:string) AnnotationAssertion( "RTSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060571"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ritscher-Schinzel syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24916641"^^xsd:string) "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300963"^^xsd:string) AnnotationAssertion( "CCDC22-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RTSC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060572"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (von Willebrand's disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16889557"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8456432"^^xsd:string) "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193400"^^xsd:string) AnnotationAssertion( "OMIA:001057"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.01"^^xsd:string) AnnotationAssertion( "MESH:D056725"^^xsd:string) AnnotationAssertion( "NCI:C131685"^^xsd:string) AnnotationAssertion( "VWD, TYPE 1"^^xsd:string) AnnotationAssertion( "VWD1"^^xsd:string) AnnotationAssertion( "von Willebrand disease I"^^xsd:string) AnnotationAssertion( "von Willebrand disease type 1"^^xsd:string) AnnotationAssertion( "von Willebrand disease type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "von Willebrand disease type 1, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060573"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease 1"^^xsd:string) SubClassOf( ) # Class: (von Willebrand's disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20409624"^^xsd:string) "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613554"^^xsd:string) AnnotationAssertion( "OMIA:001339"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.02"^^xsd:string) AnnotationAssertion( "MESH:D056728"^^xsd:string) AnnotationAssertion( "ORDO:166081"^^xsd:string) AnnotationAssertion( "Type II von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIA von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIB von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIM von Willebrand Disease"^^xsd:string) AnnotationAssertion( "Type IIN von Willebrand Disease"^^xsd:string) AnnotationAssertion( "VWD type 2"^^xsd:string) AnnotationAssertion( "VWD2"^^xsd:string) AnnotationAssertion( "Von Willebrand disease II"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2"^^xsd:string) AnnotationAssertion( "VWD2A"^^xsd:string) AnnotationAssertion( "VWD2B"^^xsd:string) AnnotationAssertion( "VWD2M"^^xsd:string) AnnotationAssertion( "VWD2N"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2A"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2B"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2M"^^xsd:string) AnnotationAssertion( "von Willebrand disease, type 2N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VON WILLEBRAND FACTOR POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:0060574"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease 2"^^xsd:string) SubClassOf( ) # Class: (3MC syndrome 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/257920"^^xsd:string) "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257920"^^xsd:string) AnnotationAssertion( "EFO:1001978"^^xsd:string) AnnotationAssertion( "MESH:C537738"^^xsd:string) AnnotationAssertion( "3MC1"^^xsd:string) AnnotationAssertion( "Michels syndrome"^^xsd:string) AnnotationAssertion( "craniosynostosis with lid anomalies"^^xsd:string) AnnotationAssertion( "oculopalatoskeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060575"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3mc-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/265050"^^xsd:string) "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:265050"^^xsd:string) AnnotationAssertion( "EFO:1001977"^^xsd:string) AnnotationAssertion( "MESH:C535586"^^xsd:string) AnnotationAssertion( "3MC2"^^xsd:string) AnnotationAssertion( "Carnevale Krajewska Fischetto syndrome"^^xsd:string) AnnotationAssertion( "Carnevale Syndrome"^^xsd:string) AnnotationAssertion( "OSA Syndrome"^^xsd:string) AnnotationAssertion( "oculo-skeletal-abdominal syndrome"^^xsd:string) AnnotationAssertion( "ptosis of eyelids with diastasis recti and hip dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060576"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3MC syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21258343"^^xsd:string) "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535704"^^xsd:string) AnnotationAssertion( "MIM:248340"^^xsd:string) AnnotationAssertion( "MONDO:0009554"^^xsd:string) AnnotationAssertion( "3MC3"^^xsd:string) AnnotationAssertion( "Malpuech facial clefting syndrome"^^xsd:string) AnnotationAssertion( "Malpuech syndrome"^^xsd:string) AnnotationAssertion( "facial clefting syndrome, Gypsy type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060577"^^xsd:string) AnnotationAssertion(rdfs:label "3MC syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18203203"^^xsd:string) "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:163950"^^xsd:string) AnnotationAssertion( "NS1"^^xsd:string) AnnotationAssertion( "Noonan syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060578"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5782826"^^xsd:string) "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "Noonan syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "MESH:C548081"^^xsd:string) AnnotationAssertion( "MIM:605275"^^xsd:string) AnnotationAssertion( "MONDO:0011531"^^xsd:string) AnnotationAssertion( "NS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060580"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16474405"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609942"^^xsd:string) AnnotationAssertion( "MESH:C537847"^^xsd:string) AnnotationAssertion( "NS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060581"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19438935"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610733"^^xsd:string) AnnotationAssertion( "SOS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C548082"^^xsd:string) AnnotationAssertion( "NS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060582"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17603483"^^xsd:string) "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611553"^^xsd:string) AnnotationAssertion( "MESH:C548083"^^xsd:string) AnnotationAssertion( "NS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060583"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19966803"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613224"^^xsd:string) AnnotationAssertion( "MESH:C548084"^^xsd:string) AnnotationAssertion( "NS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060584"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19206169"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613706"^^xsd:string) AnnotationAssertion( "NS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060585"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24939608"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25124994"^^xsd:string) "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615355"^^xsd:string) AnnotationAssertion( "NS8"^^xsd:string) AnnotationAssertion( "RIT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060586"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616559"^^xsd:string) AnnotationAssertion( "NS9"^^xsd:string) AnnotationAssertion( "SOS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060587"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25795793"^^xsd:string) "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001517"^^xsd:string) AnnotationAssertion( "MIM:616564"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1"^^xsd:string) AnnotationAssertion( "NS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LZTR1-related disorder"^^xsd:string) AnnotationAssertion( "DOID:0060588"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Yunis-Varon syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23623387"^^xsd:string) "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:216340"^^xsd:string) AnnotationAssertion( "RDO:0002382"^^xsd:string) AnnotationAssertion( "GARD:331"^^xsd:string) AnnotationAssertion( "MESH:C536719"^^xsd:string) AnnotationAssertion( "YVS"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060589"^^xsd:string) AnnotationAssertion(rdfs:label "Yunis-Varon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (XFE progeroid syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17183314"^^xsd:string) "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610965"^^xsd:string) AnnotationAssertion( "GARD:10628"^^xsd:string) AnnotationAssertion( "MESH:C567043"^^xsd:string) AnnotationAssertion( "NCI:C173111"^^xsd:string) AnnotationAssertion( "XFEPS"^^xsd:string) AnnotationAssertion( "XPF-ERCC1 Progeroid Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060590"^^xsd:string) AnnotationAssertion(rdfs:label "XFE progeroid syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (WHIM syndrome 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/WHIM_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10767001"^^xsd:string) "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9297"^^xsd:string) AnnotationAssertion( "MESH:C536697"^^xsd:string) AnnotationAssertion( "MIM:193670"^^xsd:string) AnnotationAssertion( "MONDO:8000006"^^xsd:string) AnnotationAssertion( "NCI:C176819"^^xsd:string) AnnotationAssertion( "CXCR4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WHIM syndrome 1"^^xsd:string) AnnotationAssertion( "WHIMS1"^^xsd:string) AnnotationAssertion( "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060591"^^xsd:string) AnnotationAssertion(rdfs:label "WHIM syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (B-cell adult acute lymphocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143"^^xsd:string) "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001935"^^xsd:string) AnnotationAssertion( "NCI:C9143"^^xsd:string) AnnotationAssertion( "B-cell adult acute lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "adult B acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult B acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult B-lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult B-lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult b-cell acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "adult b-cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "adult b-cell lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "adult b-cell lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060592"^^xsd:string) AnnotationAssertion(rdfs:label "B-cell adult acute lymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atypical chronic myeloid leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29226717"^^xsd:string) "A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL). (DO)"^^xsd:string) AnnotationAssertion( "DOID:8747"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.2"^^xsd:string) AnnotationAssertion( "ICD9CM:205.2"^^xsd:string) AnnotationAssertion( "MESH:D054438"^^xsd:string) AnnotationAssertion( "NCI:C3176"^^xsd:string) AnnotationAssertion( "NCI:C3519"^^xsd:string) AnnotationAssertion( "ORDO:98824"^^xsd:string) AnnotationAssertion( "Ph1-negative myelogenous leukemia"^^xsd:string) AnnotationAssertion( "Ph1-negative myelogenous leukemias"^^xsd:string) AnnotationAssertion( "Ph1-negative myeloid leukemia"^^xsd:string) AnnotationAssertion( "Ph1-negative myeloid leukemias"^^xsd:string) AnnotationAssertion( "Philadelphia-negative myeloid leukemia"^^xsd:string) AnnotationAssertion( "Philadelphia-negative myeloid leukemias"^^xsd:string) AnnotationAssertion( "aCML"^^xsd:string) AnnotationAssertion( "atypical CML"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukaemia"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukaemia BCR-ABL1 negative"^^xsd:string) AnnotationAssertion( "atypical chronic myeloid leukemia BCR-ABL1 negative"^^xsd:string) AnnotationAssertion( "subacute myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060597"^^xsd:string) AnnotationAssertion(rdfs:label "atypical chronic myeloid leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nance-Horan syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nance-Horan_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2246772"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6467651"^^xsd:string) "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302350"^^xsd:string) AnnotationAssertion( "NHS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7161"^^xsd:string) AnnotationAssertion( "MESH:C538336"^^xsd:string) AnnotationAssertion( "ORDO:627"^^xsd:string) AnnotationAssertion( "Mesiodens-Cataract syndrome"^^xsd:string) AnnotationAssertion( "NHS"^^xsd:string) AnnotationAssertion( "X-linked cataract, with Hutchinsonian teeth"^^xsd:string) AnnotationAssertion( "cataract-dental syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060599"^^xsd:string) AnnotationAssertion(rdfs:label "Nance-Horan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (alpha-2-plasmin inhibitor deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11472338"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/156196"^^xsd:string) "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262850"^^xsd:string) AnnotationAssertion( "RDO:0003676"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.8"^^xsd:string) AnnotationAssertion( "MESH:C537777"^^xsd:string) AnnotationAssertion( "ORDO:79"^^xsd:string) AnnotationAssertion( "Anti-Plasmin Deficiency, Congenital"^^xsd:string) AnnotationAssertion( "Antiplasmin deficiency, congenital"^^xsd:string) AnnotationAssertion( "antiplasmin deficiency"^^xsd:string) AnnotationAssertion( "plasmin inhibitor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "antiplasmin defiency"^^xsd:string) AnnotationAssertion( "DOID:0060601"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-2-plasmin inhibitor deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alpha-methylacyl-CoA racemase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11861706"^^xsd:string) "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614307"^^xsd:string) AnnotationAssertion( "EFO:1001980"^^xsd:string) AnnotationAssertion( "MESH:C565768"^^xsd:string) AnnotationAssertion( "AMACR Deficiency"^^xsd:string) AnnotationAssertion( "AMACRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060602"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-methylacyl-CoA racemase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated anhidrosis with normal sweat glands) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2401610"^^xsd:string) "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106190"^^xsd:string) AnnotationAssertion( "ANHD"^^xsd:string) AnnotationAssertion( "Dann-Epstein-Sohar syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060603"^^xsd:string) AnnotationAssertion(rdfs:label "isolated anhidrosis with normal sweat glands"^^xsd:string) SubClassOf( ) # Class: (ankyloglossia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ankyloglossia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18983637"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5251442"^^xsd:string) "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106280"^^xsd:string) AnnotationAssertion( "ICD10CM:Q38.1"^^xsd:string) AnnotationAssertion( "MESH:D000072676"^^xsd:string) AnnotationAssertion( "Ankyloglossias"^^xsd:string) AnnotationAssertion( "partial ankyloglossia"^^xsd:string) AnnotationAssertion( "partial ankyloglossias"^^xsd:string) AnnotationAssertion( "tongue tie"^^xsd:string) AnnotationAssertion( "tongue ties"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060604"^^xsd:string) AnnotationAssertion(rdfs:label "ankyloglossia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (fetal nicotine spectrum disorder) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20363831"^^xsd:string) "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060606"^^xsd:string) AnnotationAssertion(rdfs:label "fetal nicotine spectrum disorder"^^xsd:string) SubClassOf( ) # Class: (microcephalic osteodysplastic primordial dwarfism type I) AnnotationAssertion(Annotation( "http://omim.org/entry/210710"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22302400"^^xsd:string) "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210710"^^xsd:string) AnnotationAssertion( "GARD:5120"^^xsd:string) AnnotationAssertion( "MESH:C537577"^^xsd:string) AnnotationAssertion( "ORDO:2636"^^xsd:string) AnnotationAssertion( "Mopd 1"^^xsd:string) AnnotationAssertion( "Mopd I"^^xsd:string) AnnotationAssertion( "Mopd1"^^xsd:string) AnnotationAssertion( "MopdI"^^xsd:string) AnnotationAssertion( "TALS"^^xsd:string) AnnotationAssertion( "Taybi Linder syndrome"^^xsd:string) AnnotationAssertion( "brachymelic primordial dwarfism"^^xsd:string) AnnotationAssertion( "cephaloskeletal dysplasia"^^xsd:string) AnnotationAssertion( "low-birth-weight dwarfism with skeletal dysplasia"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism type 1"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type 1"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060608"^^xsd:string) AnnotationAssertion(rdfs:label "microcephalic osteodysplastic primordial dwarfism type I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcephalic osteodysplastic primordial dwarfism type II) AnnotationAssertion(Annotation( "http://omim.org/entry/210720"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7551160"^^xsd:string) "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210720"^^xsd:string) AnnotationAssertion( "MESH:C565898"^^xsd:string) AnnotationAssertion( "ORDO:2637"^^xsd:string) AnnotationAssertion( "MOPD II"^^xsd:string) AnnotationAssertion( "MOPD2"^^xsd:string) AnnotationAssertion( "MOPDII"^^xsd:string) AnnotationAssertion( "Majewski osteodysplastic primordial dwarfism type II"^^xsd:string) AnnotationAssertion( "PCNT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism, type 2"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism type II"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060609"^^xsd:string) AnnotationAssertion(rdfs:label "microcephalic osteodysplastic primordial dwarfism type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megacystis-microcolon-intestinal hypoperistalsis syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Berdon_syndrome"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21792650"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25407000"^^xsd:string) "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563597"^^xsd:string) AnnotationAssertion( "MIM:155310"^^xsd:string) AnnotationAssertion( "MESH:C536138"^^xsd:string) AnnotationAssertion( "MIM:PS249210"^^xsd:string) AnnotationAssertion( "NCI:C98982"^^xsd:string) AnnotationAssertion( "ORDO:2241"^^xsd:string) AnnotationAssertion( "Berdon syndrome"^^xsd:string) AnnotationAssertion( "MMIH"^^xsd:string) AnnotationAssertion( "VSCM"^^xsd:string) AnnotationAssertion( "idiopathic intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "infantile visceral myopathy"^^xsd:string) AnnotationAssertion( "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH"^^xsd:string) AnnotationAssertion( "megaduodenum and/or megacystis"^^xsd:string) AnnotationAssertion( "visceral myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060610"^^xsd:string) AnnotationAssertion(rdfs:label "megacystis-microcolon-intestinal hypoperistalsis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17167477/"^^xsd:string) "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535554"^^xsd:string) AnnotationAssertion( "MIM:PS605552"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060611"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome 3) AnnotationAssertion(Annotation( "http://omim.org/entry/615812"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24827035"^^xsd:string) "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001051"^^xsd:string) AnnotationAssertion( "MIM:615812"^^xsd:string) AnnotationAssertion( "AOMS3"^^xsd:string) AnnotationAssertion( "DYRK1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060612"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome 3"^^xsd:string) SubClassOf( ) # Class: (X-linked cleft palate with or without ankyloglossia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14729838"^^xsd:string) "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:303400"^^xsd:string) AnnotationAssertion( "MESH:C536426"^^xsd:string) AnnotationAssertion( "ORDO:324601"^^xsd:string) AnnotationAssertion( "CPX"^^xsd:string) AnnotationAssertion( "X-linked cleft palate"^^xsd:string) AnnotationAssertion( "X-linked cleft palate and ankyloglossia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060613"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cleft palate with or without ankyloglossia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ulnar-mammary syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8595424"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8923944"^^xsd:string) "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181450"^^xsd:string) AnnotationAssertion( "GARD:118"^^xsd:string) AnnotationAssertion( "MESH:C536937"^^xsd:string) AnnotationAssertion( "ORDO:3138"^^xsd:string) AnnotationAssertion( "Pallister ulnar-mammary syndrome"^^xsd:string) AnnotationAssertion( "Schinzel syndrome"^^xsd:string) AnnotationAssertion( "TBX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UMS"^^xsd:string) AnnotationAssertion( "ulnar-mammary syndrome of Pallister"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060614"^^xsd:string) AnnotationAssertion(rdfs:label "ulnar-mammary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neonatal diabetes mellitus with congenital hypothyroidism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16715098"^^xsd:string) "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610199"^^xsd:string) AnnotationAssertion( "MESH:C565705"^^xsd:string) AnnotationAssertion( "ORDO:79118"^^xsd:string) AnnotationAssertion( "NDH"^^xsd:string) AnnotationAssertion( "NDH syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060638"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal diabetes mellitus with congenital hypothyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (permanent neonatal diabetes mellitus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17213273"^^xsd:string) "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10457"^^xsd:string) AnnotationAssertion( "MESH:C563425"^^xsd:string) AnnotationAssertion( "MIM:PS606176"^^xsd:string) AnnotationAssertion( "NCI:C114902"^^xsd:string) AnnotationAssertion( "PDMI"^^xsd:string) AnnotationAssertion( "PNDM"^^xsd:string) AnnotationAssertion( "permanent diabetes mellitus, of infancy"^^xsd:string) AnnotationAssertion( "permanent neonatal diabetes mellitus (PNDM)"^^xsd:string) AnnotationAssertion( "DEND"^^xsd:string) AnnotationAssertion( "developmental delay, epilepsy, and neonatal diabetes"^^xsd:string) AnnotationAssertion( "permanent neonatal diabetes mellitus, with neurologic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060639"^^xsd:string) AnnotationAssertion(rdfs:label "permanent neonatal diabetes mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ethylmalonic encephalopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20528888"^^xsd:string) "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602473"^^xsd:string) AnnotationAssertion( "GARD:2198"^^xsd:string) AnnotationAssertion( "MESH:C535737"^^xsd:string) AnnotationAssertion( "ORDO:51188"^^xsd:string) AnnotationAssertion( "EE"^^xsd:string) AnnotationAssertion( "Epema Syndrome"^^xsd:string) AnnotationAssertion( "encephalopathy, petechiae, and ethylmalonic aciduria"^^xsd:string) AnnotationAssertion( "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060640"^^xsd:string) AnnotationAssertion(rdfs:label "ethylmalonic encephalopathy"^^xsd:string) SubClassOf( ) # Class: (endocrine-cerebro-osteodysplasia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19185282"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24853502"^^xsd:string) "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612651"^^xsd:string) AnnotationAssertion( "MESH:C567210"^^xsd:string) AnnotationAssertion( "ORDO:199332"^^xsd:string) AnnotationAssertion( "ECO"^^xsd:string) AnnotationAssertion( "ECO syndrome"^^xsd:string) AnnotationAssertion( "endocrine-cerebroosteodysplasia"^^xsd:string) AnnotationAssertion( "DYSPLASTIC CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060641"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine-cerebro-osteodysplasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (recessive dystrophic epidermolysis bullosa) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3307723"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8513326"^^xsd:string) "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.2"^^xsd:string) AnnotationAssertion( "MESH:C567122"^^xsd:string) AnnotationAssertion( "ORDO:79408"^^xsd:string) AnnotationAssertion( "RDEB, Hallopeau-Siemens type"^^xsd:string) AnnotationAssertion( "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"^^xsd:string) AnnotationAssertion( "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"^^xsd:string) AnnotationAssertion( "autosomal recessive epidermolysis bullosa dystrophica inversa"^^xsd:string) AnnotationAssertion( "severe generalized RDEB"^^xsd:string) AnnotationAssertion( "severe generalized recessive dystrophic epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060642"^^xsd:string) AnnotationAssertion(rdfs:label "recessive dystrophic epidermolysis bullosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary sclerosing cholangitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7877651"^^xsd:string) "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1280"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.01"^^xsd:string) AnnotationAssertion( "MIM:613806"^^xsd:string) AnnotationAssertion( "NCI:C4828"^^xsd:string) AnnotationAssertion( "ORDO:171"^^xsd:string) AnnotationAssertion( "PSC"^^xsd:string) AnnotationAssertion( "primary sclerosing cholangitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060643"^^xsd:string) AnnotationAssertion(rdfs:label "primary sclerosing cholangitis"^^xsd:string) SubClassOf( ) # Class: (chondrodysplasia-pseudohermaphroditism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1342874"^^xsd:string) "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536123"^^xsd:string) AnnotationAssertion( "MIM:600092"^^xsd:string) AnnotationAssertion( "MONDO:0010814"^^xsd:string) AnnotationAssertion( "ORDO:1422"^^xsd:string) AnnotationAssertion( "NNMS"^^xsd:string) AnnotationAssertion( "Nivelon-Nivelon-Mabille syndrome"^^xsd:string) AnnotationAssertion( "chondrodysplasia pseudohermaphrodism syndrome"^^xsd:string) AnnotationAssertion( "chondrodysplasia-disorder of sex development syndrome"^^xsd:string) AnnotationAssertion( "pseudohermaphrodism and chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060644"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic recurrent multifocal osteomyelitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11973628"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4403064"^^xsd:string) Annotation( "https://www.nomidalliance.org/crmo.php"^^xsd:string) "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6108"^^xsd:string) AnnotationAssertion( "ICD10CM:M86.3"^^xsd:string) AnnotationAssertion( "MESH:C535456"^^xsd:string) AnnotationAssertion( "MIM:PS609628"^^xsd:string) AnnotationAssertion( "MONDO:0009813"^^xsd:string) AnnotationAssertion( "ORDO:324964"^^xsd:string) AnnotationAssertion( "CMO"^^xsd:string) AnnotationAssertion( "CRMO"^^xsd:string) AnnotationAssertion( "chronic multifocal osteomyelitis"^^xsd:string) AnnotationAssertion( "chronic osteomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060645"^^xsd:string) AnnotationAssertion(rdfs:label "chronic recurrent multifocal osteomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital chylothorax) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chylothorax"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/416049"^^xsd:string) "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603523"^^xsd:string) AnnotationAssertion( "MESH:C535461"^^xsd:string) AnnotationAssertion( "ORDO:264688"^^xsd:string) AnnotationAssertion( "congenital hydrothorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060646"^^xsd:string) AnnotationAssertion(rdfs:label "congenital chylothorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal encasement syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20961246"^^xsd:string) "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613630"^^xsd:string) AnnotationAssertion( "ORDO:465824"^^xsd:string) AnnotationAssertion( "cocoon syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060647"^^xsd:string) AnnotationAssertion(rdfs:label "fetal encasement syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17914436"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30242500"^^xsd:string) "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0060605"^^xsd:string) AnnotationAssertion( "GARD:10025"^^xsd:string) AnnotationAssertion( "MESH:C537775"^^xsd:string) AnnotationAssertion( "MIM:PS107250"^^xsd:string) AnnotationAssertion( "ORDO:88632"^^xsd:string) AnnotationAssertion( "ASMD"^^xsd:string) AnnotationAssertion( "ASOD"^^xsd:string) AnnotationAssertion( "anterior segment anomalies"^^xsd:string) AnnotationAssertion( "anterior segment developmental anomaly"^^xsd:string) AnnotationAssertion( "anterior segment mesenchymal dysgenesis"^^xsd:string) AnnotationAssertion( "anterior segment ocular dysgenesis"^^xsd:string) AnnotationAssertion( "corneal opacification and other ocular anomalies"^^xsd:string) AnnotationAssertion( "corneal opacification with other ocular anomalies"^^xsd:string) AnnotationAssertion( "sclerocornea with other ocular anomalie"^^xsd:string) AnnotationAssertion( "sclerocornea with other ocular anomalies"^^xsd:string) AnnotationAssertion( "anterior segment anomalies and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060648"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital hereditary endothelial dystrophy of cornea) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16767101"^^xsd:string) "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)"^^xsd:string) AnnotationAssertion( "MIM:217700"^^xsd:string) AnnotationAssertion( "MESH:C536439"^^xsd:string) AnnotationAssertion( "CHED"^^xsd:string) AnnotationAssertion( "CHED2"^^xsd:string) AnnotationAssertion( "congenital hereditary endothelial dystrophy of the cornea"^^xsd:string) AnnotationAssertion( "corneal dystrophy, congenital hereditary endothelial"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 2"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060649"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hereditary endothelial dystrophy of cornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dicarboxylic aminoaciduria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18200002/"^^xsd:string) "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222730"^^xsd:string) AnnotationAssertion( "GARD:1855"^^xsd:string) AnnotationAssertion( "MESH:C536171"^^xsd:string) AnnotationAssertion( "ORDO:2195"^^xsd:string) AnnotationAssertion( "DCBXA"^^xsd:string) AnnotationAssertion( "Dicarboxylic amino aciduria"^^xsd:string) AnnotationAssertion( "Dicarboxylicamino Aciduria"^^xsd:string) AnnotationAssertion( "Glutamate and aspartate transport defect"^^xsd:string) AnnotationAssertion( "dicarboxylicaminoaciduria"^^xsd:string) AnnotationAssertion( "glutamate-aspartate transport defect"^^xsd:string) AnnotationAssertion( "inborn error of glutamic and aspartate transport"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060650"^^xsd:string) AnnotationAssertion(rdfs:label "dicarboxylic aminoaciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MYH-9 related disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myh9-related-disorder"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21567368"^^xsd:string) "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155100"^^xsd:string) AnnotationAssertion( "OMIA:001608"^^xsd:string) AnnotationAssertion( "MYH9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009646"^^xsd:string) AnnotationAssertion( "MESH:C535507"^^xsd:string) AnnotationAssertion( "MESH:C537831"^^xsd:string) AnnotationAssertion( "NCI:C158788"^^xsd:string) AnnotationAssertion( "ORDO:182050"^^xsd:string) AnnotationAssertion( "APSM"^^xsd:string) AnnotationAssertion( "Alport syndrome with leukocyte inclusions and macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "Alport syndrome with macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "BDPLT6"^^xsd:string) AnnotationAssertion( "Brodie Chole Griffin syndrome"^^xsd:string) AnnotationAssertion( "Dohle leukocyte inclusions with giant platelets"^^xsd:string) AnnotationAssertion( "EPSTNS"^^xsd:string) AnnotationAssertion( "Epstein syndrome"^^xsd:string) AnnotationAssertion( "FTNS"^^xsd:string) AnnotationAssertion( "Fechtner syndrome"^^xsd:string) AnnotationAssertion( "Fechtner's syndrome"^^xsd:string) AnnotationAssertion( "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "MATINS"^^xsd:string) AnnotationAssertion( "MHA"^^xsd:string) AnnotationAssertion( "MYH9 gene-related autosomal macrothrombocytopenias"^^xsd:string) AnnotationAssertion( "MYH9-related disorder"^^xsd:string) AnnotationAssertion( "MYH9-related disorders"^^xsd:string) AnnotationAssertion( "MYH9-related macrothrombocytopenias"^^xsd:string) AnnotationAssertion( "MYH9RD"^^xsd:string) AnnotationAssertion( "Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions"^^xsd:string) AnnotationAssertion( "Macrothrombocytopenia and Progressive Sensorineural Deafness"^^xsd:string) AnnotationAssertion( "May-Hegglin anomaly"^^xsd:string) AnnotationAssertion( "SBS"^^xsd:string) AnnotationAssertion( "Sebastian platelet syndrome"^^xsd:string) AnnotationAssertion( "Sebastian syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant MYH9 spectrum disorders"^^xsd:string) AnnotationAssertion( "bleeding disorder, platelet-type, 6"^^xsd:string) AnnotationAssertion( "macrothrombocytopathy, nephritis, and deafness"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia with dispersed leukocytic inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia with leukocyte inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, nephritis, and deafness"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia, progressive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060651"^^xsd:string) AnnotationAssertion(rdfs:label "MYH-9 related disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9292543"^^xsd:string) "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133100"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.0"^^xsd:string) AnnotationAssertion( "MESH:C536842"^^xsd:string) AnnotationAssertion( "ORDO:90042"^^xsd:string) AnnotationAssertion( "ECYT1"^^xsd:string) AnnotationAssertion( "PFCP"^^xsd:string) AnnotationAssertion( "autosomal dominant benign erythrocytosis"^^xsd:string) AnnotationAssertion( "benign familial polycythemia"^^xsd:string) AnnotationAssertion( "congenital erythrocytosis"^^xsd:string) AnnotationAssertion( "hereditary erythrocytosis"^^xsd:string) AnnotationAssertion( "primary familial and congenital polycythemia"^^xsd:string) AnnotationAssertion( "primary familial polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060652"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17701898"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611369"^^xsd:string) AnnotationAssertion( "MESH:C566961"^^xsd:string) AnnotationAssertion( "ORDO:137783"^^xsd:string) AnnotationAssertion( "LCCS3"^^xsd:string) AnnotationAssertion( "multiple contractural syndrome, Israeli Bedouin type B"^^xsd:string) AnnotationAssertion( "multiple contracture syndrome, Israeli Bedouin type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060653"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital contracture syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22610851"^^xsd:string) "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12645"^^xsd:string) AnnotationAssertion( "MIM:614915"^^xsd:string) AnnotationAssertion( "LCCS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060654"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital contracture syndrome 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1420/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20643494"^^xsd:string) "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:1699"^^xsd:string) AnnotationAssertion( "CONGENITAL ICHTHYOSIS OF SKIN"^^xsd:string) AnnotationAssertion( "MESH:D016113"^^xsd:string) AnnotationAssertion( "MIM:PS242300"^^xsd:string) AnnotationAssertion( "NCI:C84805"^^xsd:string) AnnotationAssertion( "ORDO:281097"^^xsd:string) AnnotationAssertion( "ARCI"^^xsd:string) AnnotationAssertion( "alligator skin"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma, dry type"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythroderma, wet type"^^xsd:string) AnnotationAssertion( "congenital ichthyosiform erythrodermas"^^xsd:string) AnnotationAssertion( "congenital non bullous ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "congenital nonbullous ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "lamellar ichthyose"^^xsd:string) AnnotationAssertion( "lamellar ichthyoses"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "nonbullous congenital lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "nonbullous erythroderma ichthyosiforme"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lamellar desquamation of the newborn"^^xsd:string) AnnotationAssertion( "DOID:0060655"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7824952"^^xsd:string) "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242300"^^xsd:string) AnnotationAssertion( "OMIA:000546"^^xsd:string) AnnotationAssertion( "GARD:3170"^^xsd:string) AnnotationAssertion( "MESH:D017490"^^xsd:string) AnnotationAssertion( "ORDO:100976"^^xsd:string) AnnotationAssertion( "ORDO:281122"^^xsd:string) AnnotationAssertion( "ORDO:313"^^xsd:string) AnnotationAssertion( "ARCI1"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION"^^xsd:string) AnnotationAssertion( "ICR2"^^xsd:string) AnnotationAssertion( "Ichthyosis Congenita II"^^xsd:string) AnnotationAssertion( "Ichthyosis, Lamellar, 1"^^xsd:string) AnnotationAssertion( "Ichthyosis, TGM1-related"^^xsd:string) AnnotationAssertion( "LI1"^^xsd:string) AnnotationAssertion( "Lamellar Exfoliation of Newborn"^^xsd:string) AnnotationAssertion( "SHCB"^^xsd:string) AnnotationAssertion( "bathing suit ichthyosis"^^xsd:string) AnnotationAssertion( "collodion baby syndrome"^^xsd:string) AnnotationAssertion( "collodion baby syndromes"^^xsd:string) AnnotationAssertion( "collodion fetus"^^xsd:string) AnnotationAssertion( "desquamation of newborn"^^xsd:string) AnnotationAssertion( "ichthyosis congenita"^^xsd:string) AnnotationAssertion( "ichthyosis congenita I"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis type 1"^^xsd:string) AnnotationAssertion( "newborn desquamation"^^xsd:string) AnnotationAssertion( "newborn desquamations"^^xsd:string) AnnotationAssertion( "newborn lamellar exfoliation"^^xsd:string) AnnotationAssertion( "newborn lamellar exfoliations"^^xsd:string) AnnotationAssertion( "self-healing collodion baby"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060656"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 1"^^xsd:string) SubClassOf( ) # Class: (anencephaly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anencephaly"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/anencephaly"^^xsd:string) "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5808"^^xsd:string) AnnotationAssertion( "ICD10CM:Q00.0"^^xsd:string) AnnotationAssertion( "MESH:D000757"^^xsd:string) AnnotationAssertion( "MIM:PS206500"^^xsd:string) AnnotationAssertion( "NCI:C84560"^^xsd:string) AnnotationAssertion( "ORDO:1048"^^xsd:string) AnnotationAssertion( "ANPH"^^xsd:string) AnnotationAssertion( "Aprosencephaly"^^xsd:string) AnnotationAssertion( "anencephalia"^^xsd:string) AnnotationAssertion( "anencephalias"^^xsd:string) AnnotationAssertion( "anencephalus"^^xsd:string) AnnotationAssertion( "aprosencephalies"^^xsd:string) AnnotationAssertion( "brain congenital absence"^^xsd:string) AnnotationAssertion( "congenital absence of brain"^^xsd:string) AnnotationAssertion( "hemicranial anencephaly"^^xsd:string) AnnotationAssertion( "incomplete anencephaly"^^xsd:string) AnnotationAssertion( "partial anencephalies"^^xsd:string) AnnotationAssertion( "partial anencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060668"^^xsd:string) AnnotationAssertion(rdfs:label "anencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation) AnnotationAssertion(Annotation( "http://hmg.oxfordjournals.org/content/18/5/919.long"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation"^^xsd:string) "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001343"^^xsd:string) AnnotationAssertion( "MESH:D020786"^^xsd:string) AnnotationAssertion( "MIM:PS116860"^^xsd:string) AnnotationAssertion( "NCI:C84626"^^xsd:string) AnnotationAssertion( "CAM"^^xsd:string) AnnotationAssertion( "CCM"^^xsd:string) AnnotationAssertion( "Cavernous Angioma, Central Nervous System"^^xsd:string) AnnotationAssertion( "Cavernous Angiomatous Malformation"^^xsd:string) AnnotationAssertion( "Cavernous Hemangioma of Brain"^^xsd:string) AnnotationAssertion( "Cerebral Capillary Malformation"^^xsd:string) AnnotationAssertion( "Cerebral Cavernous Hemangioma"^^xsd:string) AnnotationAssertion( "brain cavernous hemangioma"^^xsd:string) AnnotationAssertion( "brain cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "cavernous angiomatous malformations"^^xsd:string) AnnotationAssertion( "cavernous hemangioma, central nervous system"^^xsd:string) AnnotationAssertion( "cerebral capillary malformations"^^xsd:string) AnnotationAssertion( "cerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations"^^xsd:string) AnnotationAssertion( "extracerebral cavernous hemangioma"^^xsd:string) AnnotationAssertion( "extracerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "familial cavernous angioma"^^xsd:string) AnnotationAssertion( "familial cavernous angiomas"^^xsd:string) AnnotationAssertion( "familial cavernous malformation"^^xsd:string) AnnotationAssertion( "familial cavernous malformations"^^xsd:string) AnnotationAssertion( "intracerebral cavernous hemangioma"^^xsd:string) AnnotationAssertion( "intracerebral cavernous hemangiomas"^^xsd:string) AnnotationAssertion( "CAVERNOUS MALFORMATIONS OF CNS AND RETINA"^^xsd:string) AnnotationAssertion( "HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060669"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14624391"^^xsd:string) "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603284"^^xsd:string) AnnotationAssertion( "MESH:C566394"^^xsd:string) AnnotationAssertion( "ORDO:221061"^^xsd:string) AnnotationAssertion( "CCM2"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060670"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral cavernous malformation 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15543491"^^xsd:string) "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603285"^^xsd:string) AnnotationAssertion( "ICD10CM:Q28.3"^^xsd:string) AnnotationAssertion( "MESH:C566393"^^xsd:string) AnnotationAssertion( "CCM3"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060671"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GRN-related frontotemporal lobar degeneration with TDP43 inclusions) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16862116"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16983677"^^xsd:string) "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.0"^^xsd:string) AnnotationAssertion( "MIM:607485"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED"^^xsd:string) AnnotationAssertion( "FTDU"^^xsd:string) AnnotationAssertion( "FTLD-TDP, GRN-related"^^xsd:string) AnnotationAssertion( "FTLDU"^^xsd:string) AnnotationAssertion( "frontotemporal lobar degeneration with ubiquitin positive inclusions"^^xsd:string) AnnotationAssertion( "ubiquitin-positive frontotemporal dementia"^^xsd:string) AnnotationAssertion( "HDDD aphasia, primary progressive"^^xsd:string) AnnotationAssertion( "PPA"^^xsd:string) AnnotationAssertion( "hereditary dysphasic disinhibition dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060672"^^xsd:string) AnnotationAssertion(rdfs:label "GRN-related frontotemporal lobar degeneration with TDP43 inclusions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peters anomaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11403040"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12614756"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8162071"^^xsd:string) "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7377"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.4"^^xsd:string) AnnotationAssertion( "MESH:C537884"^^xsd:string) AnnotationAssertion( "ORDO:708"^^xsd:string) AnnotationAssertion( "irido-corneo-trabecular dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060673"^^xsd:string) AnnotationAssertion(rdfs:label "Peters anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1289"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17875969"^^xsd:string) "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004692"^^xsd:string) AnnotationAssertion( "MESH:C536334"^^xsd:string) AnnotationAssertion( "MIM:PS604772"^^xsd:string) AnnotationAssertion( "ORDO:3286"^^xsd:string) AnnotationAssertion( "bidirectional tachycardia induced by catecholamines"^^xsd:string) AnnotationAssertion( "catecholamine-induced polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VTSIP"^^xsd:string) AnnotationAssertion( "stress-induced polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "DOID:0060674"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12093772"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17875969"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110071"^^xsd:string) AnnotationAssertion( "RYR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563409"^^xsd:string) AnnotationAssertion( "MIM:604772"^^xsd:string) AnnotationAssertion( "MONDO:0011484"^^xsd:string) AnnotationAssertion( "NCI:C123414"^^xsd:string) AnnotationAssertion( "ARVC2"^^xsd:string) AnnotationAssertion( "ARVD2"^^xsd:string) AnnotationAssertion( "CPVT1"^^xsd:string) AnnotationAssertion( "CVPT1"^^xsd:string) AnnotationAssertion( "VTSIP1"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 2"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy type 2"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular dysplasia 2"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia type 1"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 2"^^xsd:string) AnnotationAssertion( "stress-induced polymorphic ventricular tachycardia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060675"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11401939"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I47.2"^^xsd:string) AnnotationAssertion( "MIM:611938"^^xsd:string) AnnotationAssertion( "MONDO:0012762"^^xsd:string) AnnotationAssertion( "CPVT2"^^xsd:string) AnnotationAssertion( "CVPT2"^^xsd:string) AnnotationAssertion( "VTSIP2"^^xsd:string) AnnotationAssertion( "ventricular tachycardia, stress-induced polymorphic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060676"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 2"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17666061"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614021"^^xsd:string) AnnotationAssertion( "CPVT3"^^xsd:string) AnnotationAssertion( "CVPT3"^^xsd:string) AnnotationAssertion( "TECRL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060677"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 3"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23040497"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614916"^^xsd:string) AnnotationAssertion( "CPVT4"^^xsd:string) AnnotationAssertion( "CVPT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060678"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 4"^^xsd:string) SubClassOf( ) # Class: (catecholaminergic polymorphic ventricular tachycardia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22422768"^^xsd:string) "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615441"^^xsd:string) AnnotationAssertion( "CARDAR"^^xsd:string) AnnotationAssertion( "CPVT5"^^xsd:string) AnnotationAssertion( "CVPT5"^^xsd:string) AnnotationAssertion( "cardiac arrhythmia syndrome, with or without skeletal muscle weakness"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060679"^^xsd:string) AnnotationAssertion(rdfs:label "catecholaminergic polymorphic ventricular tachycardia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pigment dispersion syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10192392"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3947295"^^xsd:string) "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600510"^^xsd:string) AnnotationAssertion( "MESH:C563184"^^xsd:string) AnnotationAssertion( "MONDO:0010896"^^xsd:string) AnnotationAssertion( "GPDS1"^^xsd:string) AnnotationAssertion( "PDS"^^xsd:string) AnnotationAssertion( "glaucoma-related pigment dispersion syndrome"^^xsd:string) AnnotationAssertion( "pigment-dispersion type glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060680"^^xsd:string) AnnotationAssertion(rdfs:label "pigment dispersion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7895015"^^xsd:string) "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11918"^^xsd:string) AnnotationAssertion( "MESH:C579932"^^xsd:string) AnnotationAssertion( "MIM:PS600513"^^xsd:string) AnnotationAssertion( "ORDO:98784"^^xsd:string) AnnotationAssertion( "Adnfle"^^xsd:string) AnnotationAssertion( "ENFL"^^xsd:string) AnnotationAssertion( "autosomal dominant epilepsy"^^xsd:string) AnnotationAssertion( "nocturnal epilepsy, frontal lobe type"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060681"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7550350"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600513"^^xsd:string) AnnotationAssertion( "CHRNA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563930"^^xsd:string) AnnotationAssertion( "RDO:0013054"^^xsd:string) AnnotationAssertion( "ENFL1"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060682"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9758605"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603204"^^xsd:string) AnnotationAssertion( "MESH:C566400"^^xsd:string) AnnotationAssertion( "RDO:0014765"^^xsd:string) AnnotationAssertion( "ENFL2"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060683"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11062464"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0014001"^^xsd:string) AnnotationAssertion( "MESH:C565334"^^xsd:string) AnnotationAssertion( "MIM:605375"^^xsd:string) AnnotationAssertion( "ENFL3"^^xsd:string) AnnotationAssertion( "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060684"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 3"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16826524"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610353"^^xsd:string) AnnotationAssertion( "MESH:C563679"^^xsd:string) AnnotationAssertion( "ENFL4"^^xsd:string) AnnotationAssertion( "familial epilepsy with nocturnal wandering and ictal fear"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy 4"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060685"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nocturnal frontal lobe epilepsy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23086396"^^xsd:string) "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615005"^^xsd:string) AnnotationAssertion( "RDO:9000290"^^xsd:string) AnnotationAssertion( "ENFL5"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, 5"^^xsd:string) AnnotationAssertion( "Epilepsy, Nocturnal Frontal Lobe, Type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060686"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 5"^^xsd:string) SubClassOf( ) # Class: (arteriovenous malformations of the brain) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7193302"^^xsd:string) "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108010"^^xsd:string) AnnotationAssertion( "EFO:0003916"^^xsd:string) AnnotationAssertion( "ICD10CM:Q28.2"^^xsd:string) AnnotationAssertion( "MESH:D002538"^^xsd:string) AnnotationAssertion( "MONDO:0007154"^^xsd:string) AnnotationAssertion( "ORDO:46724"^^xsd:string) AnnotationAssertion( "BAVM"^^xsd:string) AnnotationAssertion( "Cerebral Arteriovenous Malformation"^^xsd:string) AnnotationAssertion( "cerebral arteriovenous malformations"^^xsd:string) AnnotationAssertion( "congenital intracranial arteriovenous malformations"^^xsd:string) AnnotationAssertion( "intracranial AVM (arteriovenous malformation)"^^xsd:string) AnnotationAssertion( "intracranial arteriovenous malformation"^^xsd:string) AnnotationAssertion( "intracranial arteriovenous malformations"^^xsd:string) AnnotationAssertion( "ruptured intracranial arteriovenous malformation"^^xsd:string) AnnotationAssertion( "CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060688"^^xsd:string) AnnotationAssertion(rdfs:label "arteriovenous malformations of the brain"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrichia with papular lesions) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10205263"^^xsd:string) "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209500"^^xsd:string) AnnotationAssertion( "ICD10CM:L65.8"^^xsd:string) AnnotationAssertion( "MESH:C565924"^^xsd:string) AnnotationAssertion( "ORDO:86819"^^xsd:string) AnnotationAssertion( "APL"^^xsd:string) AnnotationAssertion( "papular atrichia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060689"^^xsd:string) AnnotationAssertion(rdfs:label "atrichia with papular lesions"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant auditory neuropathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15520414"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20624953"^^xsd:string) "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609129"^^xsd:string) AnnotationAssertion( "MESH:C563790"^^xsd:string) AnnotationAssertion( "AUNA1"^^xsd:string) AnnotationAssertion( "DIAPH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NSDAN"^^xsd:string) AnnotationAssertion( "auditory neuropathy, nonsyndromic dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060690"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant auditory neuropathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18065693"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21454453"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9834222"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:187800"^^xsd:string) AnnotationAssertion( "MESH:C566061"^^xsd:string) AnnotationAssertion( "BDPLT16"^^xsd:string) AnnotationAssertion( "Glanzmann thrombasthenia-like with macrothromocytopenia 1"^^xsd:string) AnnotationAssertion( "autosomal dominant Glanzmann thrombasthenia"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombasthenia of Glanzmann and Naegeli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060691"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11196645"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20966167"^^xsd:string) "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609821"^^xsd:string) AnnotationAssertion( "OMIA:001564"^^xsd:string) AnnotationAssertion( "MESH:C565220"^^xsd:string) AnnotationAssertion( "ORDO:36355"^^xsd:string) AnnotationAssertion( "ADP platelet receptor P2Y12 defect"^^xsd:string) AnnotationAssertion( "BDPLT8"^^xsd:string) AnnotationAssertion( "IMPAIRED ADP-INDUCED PLATELET AGGREGATION"^^xsd:string) AnnotationAssertion( "P2Y12 defect"^^xsd:string) AnnotationAssertion( "bleeding disorder due to P2RY12 defect"^^xsd:string) AnnotationAssertion( "bleeding disorder, P2RY12"^^xsd:string) AnnotationAssertion( "bleeding disorder, P2RY12-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060692"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brunner syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8211186"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8503438"^^xsd:string) "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300615"^^xsd:string) AnnotationAssertion( "RDO:0012534"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.8"^^xsd:string) AnnotationAssertion( "MESH:C563156"^^xsd:string) AnnotationAssertion( "ORDO:3057"^^xsd:string) AnnotationAssertion( "BRNRS"^^xsd:string) AnnotationAssertion( "MAOA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "monoamine oxidase A deficiency"^^xsd:string) AnnotationAssertion( "ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060693"^^xsd:string) AnnotationAssertion(rdfs:label "Brunner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cayman type cerebellar ataxia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14556008"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8845847"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601238"^^xsd:string) AnnotationAssertion( "ICD10CM:G11.0"^^xsd:string) AnnotationAssertion( "MESH:C563363"^^xsd:string) AnnotationAssertion( "ORDO:94122"^^xsd:string) AnnotationAssertion( "ATCAY"^^xsd:string) AnnotationAssertion( "Cayman ataxia"^^xsd:string) AnnotationAssertion( "Cayman cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060694"^^xsd:string) AnnotationAssertion(rdfs:label "Cayman type cerebellar ataxia"^^xsd:string) SubClassOf( ) # Class: (hyperekplexia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12427512"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1334371"^^xsd:string) "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001594"^^xsd:string) AnnotationAssertion( "GARD:3129"^^xsd:string) AnnotationAssertion( "MESH:D000071017"^^xsd:string) AnnotationAssertion( "MIM:PS149400"^^xsd:string) AnnotationAssertion( "Kok disease"^^xsd:string) AnnotationAssertion( "STHE"^^xsd:string) AnnotationAssertion( "congenital stiff man syndrome"^^xsd:string) AnnotationAssertion( "exagerrated startle reflex"^^xsd:string) AnnotationAssertion( "exaggerated startle reaction"^^xsd:string) AnnotationAssertion( "hyperekplexias"^^xsd:string) AnnotationAssertion( "startle disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060695"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7881416"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8298642"^^xsd:string) "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:149400"^^xsd:string) AnnotationAssertion( "GLRA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HKPX1"^^xsd:string) AnnotationAssertion( "hereditary hyperekplexia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060696"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11929858"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21391991"^^xsd:string) "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.8"^^xsd:string) AnnotationAssertion( "MIM:614619"^^xsd:string) AnnotationAssertion( "GLRB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HKPX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060697"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperekplexia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16751771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22700964"^^xsd:string) "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614618"^^xsd:string) AnnotationAssertion( "ORDO:3197"^^xsd:string) AnnotationAssertion( "HKPX3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060698"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19809483"^^xsd:string) "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10828"^^xsd:string) AnnotationAssertion( "MIM:PS145980"^^xsd:string) AnnotationAssertion( "NCI:C123262"^^xsd:string) AnnotationAssertion( "ORDO:405"^^xsd:string) AnnotationAssertion( "FBH"^^xsd:string) AnnotationAssertion( "FBHH"^^xsd:string) AnnotationAssertion( "FHH"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia"^^xsd:string) AnnotationAssertion( "familial benign hypocalciuric hypercalcemia"^^xsd:string) AnnotationAssertion( "NEPHROLITHIASIS/NEPHROCALCINOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060699"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7916660"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145980"^^xsd:string) AnnotationAssertion( "RDO:0002925"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.5"^^xsd:string) AnnotationAssertion( "MESH:C537145"^^xsd:string) AnnotationAssertion( "ORDO:93372"^^xsd:string) AnnotationAssertion( "FBH1"^^xsd:string) AnnotationAssertion( "FHH type 1"^^xsd:string) AnnotationAssertion( "FHH1"^^xsd:string) AnnotationAssertion( "HHC1"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia 1"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia type 1"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type 1"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type I"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060700"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 1"^^xsd:string) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23802516"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145981"^^xsd:string) AnnotationAssertion( "GARD:9758"^^xsd:string) AnnotationAssertion( "MESH:C537146"^^xsd:string) AnnotationAssertion( "ORDO:101049"^^xsd:string) AnnotationAssertion( "FBH2"^^xsd:string) AnnotationAssertion( "FHH type 2"^^xsd:string) AnnotationAssertion( "HHC2"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type 2"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type II"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type 2"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia, type II"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060701"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 2"^^xsd:string) SubClassOf( ) # Class: (familial hypocalciuric hypercalcemia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23222959"^^xsd:string) "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600740"^^xsd:string) AnnotationAssertion( "GARD:2878"^^xsd:string) AnnotationAssertion( "MESH:C537147"^^xsd:string) AnnotationAssertion( "ORDO:101050"^^xsd:string) AnnotationAssertion( "FBH3"^^xsd:string) AnnotationAssertion( "FHH type 3"^^xsd:string) AnnotationAssertion( "HHC3"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, Oklahoma type"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, Oklahoma variant"^^xsd:string) AnnotationAssertion( "familial benign hypercalcemia, type III"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type 3"^^xsd:string) AnnotationAssertion( "familial hypocalciuric hypercalcemia type III"^^xsd:string) AnnotationAssertion( "hypocalciuric hypercalcemia type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060702"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypocalciuric hypercalcemia 3"^^xsd:string) SubClassOf( ) # Class: (Muenke syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18000976"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9042914"^^xsd:string) "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602849"^^xsd:string) AnnotationAssertion( "GARD:7097"^^xsd:string) AnnotationAssertion( "MESH:C537369"^^xsd:string) AnnotationAssertion( "NCI:C84904"^^xsd:string) AnnotationAssertion( "ORDO:53271"^^xsd:string) AnnotationAssertion( "FGFR3-associated coronal synostosis"^^xsd:string) AnnotationAssertion( "FGFR3-related craniosynostosis"^^xsd:string) AnnotationAssertion( "MNKES"^^xsd:string) AnnotationAssertion( "Muenke nonsyndromic coronal craniosynostosis"^^xsd:string) AnnotationAssertion( "syndrome of coronal craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060703"^^xsd:string) AnnotationAssertion(rdfs:label "Muenke syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/198660"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22197273"^^xsd:string) "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008232"^^xsd:string) AnnotationAssertion( "MIM:PS308240"^^xsd:string) AnnotationAssertion( "ORDO:538963"^^xsd:string) AnnotationAssertion( "Combined immunodeficiency due to ITK deficiency"^^xsd:string) AnnotationAssertion( "Duncan disease"^^xsd:string) AnnotationAssertion( "Duncan's syndrome"^^xsd:string) AnnotationAssertion( "EBVS"^^xsd:string) AnnotationAssertion( "Epstein Barr Virus Induced Lymphoproliferative Disease In Males"^^xsd:string) AnnotationAssertion( "Epstein Barr Virus Infection, Familial Fatal"^^xsd:string) AnnotationAssertion( "Familial Fatal Epstein Barr Infection"^^xsd:string) AnnotationAssertion( "IMD5"^^xsd:string) AnnotationAssertion( "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Immunodeficiency 5"^^xsd:string) AnnotationAssertion( "Immunodeficiency, X Linked Progressive Combined Variable"^^xsd:string) AnnotationAssertion( "LYP"^^xsd:string) AnnotationAssertion( "Lymphoproliferative Disorder"^^xsd:string) AnnotationAssertion( "Purtilo Syndrome"^^xsd:string) AnnotationAssertion( "Purtilo Syndromes"^^xsd:string) AnnotationAssertion( "X Linked Lymphoproliferative Disease"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative diseases"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative disorder"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative disorders"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative syndrome"^^xsd:string) AnnotationAssertion( "X-linked lymphoproliferative syndromes"^^xsd:string) AnnotationAssertion( "XLP"^^xsd:string) AnnotationAssertion( "XLPD"^^xsd:string) AnnotationAssertion( "lymphoproliferative disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EBV infection, severe, susceptibility to"^^xsd:string) AnnotationAssertion( "Lymphoproliferative disorders, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060704"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked lymphoproliferative syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6283885"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9771704"^^xsd:string) "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7906"^^xsd:string) AnnotationAssertion( "MIM:308240"^^xsd:string) AnnotationAssertion( "NCI:C170434"^^xsd:string) AnnotationAssertion( "SH2D1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "XLP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060705"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lymphoproliferative syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked lymphoproliferative syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17080092"^^xsd:string) "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300635"^^xsd:string) AnnotationAssertion( "GARD:10916"^^xsd:string) AnnotationAssertion( "ICD10CM:D82.3"^^xsd:string) AnnotationAssertion( "MESH:C564469"^^xsd:string) AnnotationAssertion( "XIAP deficiency"^^xsd:string) AnnotationAssertion( "XLP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060706"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lymphoproliferative syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19425169"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21109689"^^xsd:string) "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567815"^^xsd:string) AnnotationAssertion( "MIM:613011"^^xsd:string) AnnotationAssertion( "MONDO:0013081"^^xsd:string) AnnotationAssertion( "EBV-associated lymphoproliferative syndrome, autosomal 1"^^xsd:string) AnnotationAssertion( "LPFS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060707"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoproliferative syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22197273"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22801960"^^xsd:string) "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000525"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.9"^^xsd:string) AnnotationAssertion( "MIM:615122"^^xsd:string) AnnotationAssertion( "CD27 deficiency"^^xsd:string) AnnotationAssertion( "LPFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060708"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoproliferative syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11773004"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16116617"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242100"^^xsd:string) AnnotationAssertion( "MESH:C538603"^^xsd:string) AnnotationAssertion( "NCI:C132827"^^xsd:string) AnnotationAssertion( "ALOX12B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ARCI2"^^xsd:string) AnnotationAssertion( "COLLODION BABY, SELF-HEALING"^^xsd:string) AnnotationAssertion( "NCIE1"^^xsd:string) AnnotationAssertion( "Nonbullous congenital ichthyosiform erythroderma 1"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma, BROCQ congenital, nonbullous form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060710"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11398099"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11773004"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606545"^^xsd:string) AnnotationAssertion( "MESH:C564699"^^xsd:string) AnnotationAssertion( "ARCI3"^^xsd:string) AnnotationAssertion( "COLLODION BABY, SELF-HEALING"^^xsd:string) AnnotationAssertion( "Ichthyosis, congenital, autosomal recessive 3"^^xsd:string) AnnotationAssertion( "LI5"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 5"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060711"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10094194"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20672373"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601277"^^xsd:string) AnnotationAssertion( "MESH:C537264"^^xsd:string) AnnotationAssertion( "ARCI4A"^^xsd:string) AnnotationAssertion( "ICR2B"^^xsd:string) AnnotationAssertion( "Ichthyosis congenita 2B"^^xsd:string) AnnotationAssertion( "LI2"^^xsd:string) AnnotationAssertion( "ichthyosis congenita IIB"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 2"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060712"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 4A"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 4B) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21339420"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242500"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.4"^^xsd:string) AnnotationAssertion( "MESH:C538424"^^xsd:string) AnnotationAssertion( "NCI:C98934"^^xsd:string) AnnotationAssertion( "ORDO:457"^^xsd:string) AnnotationAssertion( "ARCI4B"^^xsd:string) AnnotationAssertion( "HI"^^xsd:string) AnnotationAssertion( "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN)"^^xsd:string) AnnotationAssertion( "harlequin baby syndrome"^^xsd:string) AnnotationAssertion( "harlequin fetus"^^xsd:string) AnnotationAssertion( "harlequin ichthyoses"^^xsd:string) AnnotationAssertion( "harlequin ichthyosis"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis congenita"^^xsd:string) AnnotationAssertion( "harlequin type ichthyosis fetalis"^^xsd:string) AnnotationAssertion( "ichthyosis congenita, harlequin fetus type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060713"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 4B"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10712223"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16436457"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565749"^^xsd:string) AnnotationAssertion( "MIM:604777"^^xsd:string) AnnotationAssertion( "MESH:C537265"^^xsd:string) AnnotationAssertion( "ARCI5"^^xsd:string) AnnotationAssertion( "LI3"^^xsd:string) AnnotationAssertion( "NNCI"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis"^^xsd:string) AnnotationAssertion( "ichthyosis congenita 3"^^xsd:string) AnnotationAssertion( "ichthyosis congenita III"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 3"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis, type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060714"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 5"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16436457"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17557927"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001980"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.2"^^xsd:string) AnnotationAssertion( "MIM:612281"^^xsd:string) AnnotationAssertion( "ARCI6"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital ichthyosis, NIPAL4-related"^^xsd:string) AnnotationAssertion( "ichthyosis, NIPAL4-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060715"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16117785"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615022"^^xsd:string) AnnotationAssertion( "ARCI7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060716"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 7"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21439540"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613943"^^xsd:string) AnnotationAssertion( "ARCI8"^^xsd:string) AnnotationAssertion( "LI4"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis 4"^^xsd:string) AnnotationAssertion( "late-onset lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060717"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 8"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21093221"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23754960"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615023"^^xsd:string) AnnotationAssertion( "ARCI9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060718"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 9"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22246504"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001588"^^xsd:string) AnnotationAssertion( "MIM:615024"^^xsd:string) AnnotationAssertion( "ARCI10"^^xsd:string) AnnotationAssertion( "Ichthyosis, PNPLA1-related"^^xsd:string) AnnotationAssertion( "PNPLA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Ichthyosis, Golden Retriever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060719"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 10"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17273967"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18843291"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9450882"^^xsd:string) "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536273"^^xsd:string) AnnotationAssertion( "MIM:602400"^^xsd:string) AnnotationAssertion( "ARCI11"^^xsd:string) AnnotationAssertion( "ARIH"^^xsd:string) AnnotationAssertion( "IFAH"^^xsd:string) AnnotationAssertion( "IFAH syndrome"^^xsd:string) AnnotationAssertion( "IHS"^^xsd:string) AnnotationAssertion( "autosomal recessive ichthyosis with hypotrichosis"^^xsd:string) AnnotationAssertion( "hypotrichosis-congenital ichthyosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis"^^xsd:string) AnnotationAssertion( "ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis"^^xsd:string) AnnotationAssertion( "ichthyosis-follicular atrophoderma-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060720"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NGLY1-deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24651605"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27388694"^^xsd:string) "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615273"^^xsd:string) AnnotationAssertion( "ICD10CM:E77.8"^^xsd:string) AnnotationAssertion( "MESH:C000626124"^^xsd:string) AnnotationAssertion( "NCI:C126746"^^xsd:string) AnnotationAssertion( "ORDO:404454"^^xsd:string) AnnotationAssertion( "CDDG"^^xsd:string) AnnotationAssertion( "CDDG1"^^xsd:string) AnnotationAssertion( "NGLY1-CDDG"^^xsd:string) AnnotationAssertion( "NGLY1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital disorder of deglycosylation"^^xsd:string) AnnotationAssertion( "congenital disorder of deglycosylation 1"^^xsd:string) AnnotationAssertion( "deficiency of N-glycanase 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDG IV"^^xsd:string) AnnotationAssertion( "CDG1V"^^xsd:string) AnnotationAssertion( "CDGIV"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1V"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Iv"^^xsd:string) AnnotationAssertion( "DOID:0060728"^^xsd:string) AnnotationAssertion(rdfs:label "NGLY1-deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11912106"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9288096"^^xsd:string) "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:128100"^^xsd:string) AnnotationAssertion( "MESH:C538005"^^xsd:string) AnnotationAssertion( "NCI:C118780"^^xsd:string) AnnotationAssertion( "DYT1"^^xsd:string) AnnotationAssertion( "EOTD"^^xsd:string) AnnotationAssertion( "Early onset torsion dystonia"^^xsd:string) AnnotationAssertion( "Early-Onset Primary Dystonia"^^xsd:string) AnnotationAssertion( "Oppenheim dystonia"^^xsd:string) AnnotationAssertion( "Oppenheim's dystonia"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans 1"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans type 1"^^xsd:string) AnnotationAssertion( "early-onset generalized torsion dystonia"^^xsd:string) AnnotationAssertion( "primary torsion dystonia"^^xsd:string) AnnotationAssertion( "torsion dystonia 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "DYSTONIA 1, TORSION, LATE-ONSET"^^xsd:string) AnnotationAssertion( "DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060730"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital central hypoventilation syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11840487"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12640453"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8135282"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8696331"^^xsd:string) "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020025"^^xsd:string) AnnotationAssertion( "GARD:8535"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.3"^^xsd:string) AnnotationAssertion( "MESH:C536209"^^xsd:string) AnnotationAssertion( "MIM:PS209880"^^xsd:string) AnnotationAssertion( "NCI:C98889"^^xsd:string) AnnotationAssertion( "ORDO:661"^^xsd:string) AnnotationAssertion( "CCHS"^^xsd:string) AnnotationAssertion( "Ondine curse"^^xsd:string) AnnotationAssertion( "Ondine syndrome"^^xsd:string) AnnotationAssertion( "Ondine-Hirschsprung disease"^^xsd:string) AnnotationAssertion( "congenital Ondine curse"^^xsd:string) AnnotationAssertion( "congenital central alveolar hypoventilation syndrome"^^xsd:string) AnnotationAssertion( "congenital central hypoventilation"^^xsd:string) AnnotationAssertion( "congenital failure of autonomic control"^^xsd:string) AnnotationAssertion( "idiopathic congenital central alveolar hypoventilation"^^xsd:string) AnnotationAssertion( "primary alveolar hypoventilation"^^xsd:string) AnnotationAssertion( "OHD"^^xsd:string) AnnotationAssertion( "central hypoventilation syndrome, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060731"^^xsd:string) AnnotationAssertion(rdfs:label "congenital central hypoventilation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 9p deletion syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18452192"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4541805"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6985017"^^xsd:string) "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158170"^^xsd:string) AnnotationAssertion( "MESH:C538024"^^xsd:string) AnnotationAssertion( "ORDO:261112"^^xsd:string) AnnotationAssertion( "9p syndrome"^^xsd:string) AnnotationAssertion( "Alfi syndrome"^^xsd:string) AnnotationAssertion( "Monosomy 9p"^^xsd:string) AnnotationAssertion( "chromosome 9, monosomy 9p"^^xsd:string) AnnotationAssertion( "monosomy 9p syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060732"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 9p deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (junctional epidermolysis bullosa with pyloric atresia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16473856"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7545057"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9185503"^^xsd:string) "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226730"^^xsd:string) AnnotationAssertion( "MIM:619817"^^xsd:string) AnnotationAssertion( "ITGB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.8"^^xsd:string) AnnotationAssertion( "MESH:C535377"^^xsd:string) AnnotationAssertion( "NCI:C162474"^^xsd:string) AnnotationAssertion( "ORDO:79403"^^xsd:string) AnnotationAssertion( "Carmi syndrome"^^xsd:string) AnnotationAssertion( "EB-PA"^^xsd:string) AnnotationAssertion( "EB-PA-ACC"^^xsd:string) AnnotationAssertion( "JEB-PA"^^xsd:string) AnnotationAssertion( "JEB5B"^^xsd:string) AnnotationAssertion( "JEB6"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita with gastrointestinal atresia"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis with pyloric atresia"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 5B, with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 6 with pyloric atresia"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa-pyloric atresia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060733"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa with pyloric atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex Dowling-Meara type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1369/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1372711"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1717157"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string) "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:79396"^^xsd:string) AnnotationAssertion( "EBS-DM"^^xsd:string) AnnotationAssertion( "EBS-gen sev"^^xsd:string) AnnotationAssertion( "EBSDM"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa herpetiformis Dowling Meara"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa herpetiformis Dowling-Meara type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex, herpetiformis"^^xsd:string) AnnotationAssertion( "generalized severe epidermolysis bullosa simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060735"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex Dowling-Meara type"^^xsd:string) SubClassOf( ) # Class: (epidermolysis bullosa simplex Ogna type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11851880"^^xsd:string) "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131950"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.0"^^xsd:string) AnnotationAssertion( "MESH:C535962"^^xsd:string) AnnotationAssertion( "ORDO:79401"^^xsd:string) AnnotationAssertion( "EBS-O"^^xsd:string) AnnotationAssertion( "EBS5A"^^xsd:string) AnnotationAssertion( "EBSOG"^^xsd:string) AnnotationAssertion( "Ebs-Og"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa simplex 1"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 5A, Ogna type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060736"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex Ogna type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (junctional epidermolysis bullosa Herlitz type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8012393"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8586427"^^xsd:string) "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.1"^^xsd:string) AnnotationAssertion( "ORDO:79404"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Letali"^^xsd:string) AnnotationAssertion( "Herlitz-Pearson-type epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "JEB-H"^^xsd:string) AnnotationAssertion( "JEB-Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa letalis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa generalisata gravis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa gravis of Herlitz"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, Herlitz-Pearson type"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, generalized severe"^^xsd:string) AnnotationAssertion( "lethal junctional epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060737"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa Herlitz type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (junctional epidermolysis bullosa non-Herlitz type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10792571"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11810295"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18374450"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7550320"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7706760"^^xsd:string) "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562639"^^xsd:string) AnnotationAssertion( "ORDO:79402"^^xsd:string) AnnotationAssertion( "ORDO:89840"^^xsd:string) AnnotationAssertion( "JEB-nH gen"^^xsd:string) AnnotationAssertion( "JEN-nH"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, Disentis type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, non-Herlitz type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, severe nonlethal"^^xsd:string) AnnotationAssertion( "generalized junctional epidermolysis bullosa, non-Herlitz type"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa generalisata mitis"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, Disentis type"^^xsd:string) AnnotationAssertion( "progressive epidermolysis bullosa junctionalis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060738"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa non-Herlitz type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hand-foot-genital syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5450271"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9020844"^^xsd:string) "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:140000"^^xsd:string) AnnotationAssertion( "GARD:2594"^^xsd:string) AnnotationAssertion( "ICD10CM:Q51.2"^^xsd:string) AnnotationAssertion( "MESH:C535627"^^xsd:string) AnnotationAssertion( "ORDO:2438"^^xsd:string) AnnotationAssertion( "HFG"^^xsd:string) AnnotationAssertion( "HFG syndrome"^^xsd:string) AnnotationAssertion( "HFGS"^^xsd:string) AnnotationAssertion( "HFU"^^xsd:string) AnnotationAssertion( "HFU syndrome"^^xsd:string) AnnotationAssertion( "hand-foot-uterus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060739"^^xsd:string) AnnotationAssertion(rdfs:label "hand-foot-genital syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1975493"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1977311"^^xsd:string) "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251000"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.1"^^xsd:string) AnnotationAssertion( "MESH:C565390"^^xsd:string) AnnotationAssertion( "NCI:C148366"^^xsd:string) AnnotationAssertion( "ORDO:27"^^xsd:string) AnnotationAssertion( "MMA due to MCM Deficiency"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"^^xsd:string) AnnotationAssertion( "vitamin B12-unresponsive methylmalonic aciduria"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut(-) type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, mut(0) type"^^xsd:string) AnnotationAssertion( "DOID:0060740"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia due to transcobalamin receptor defect) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20524213"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613646"^^xsd:string) AnnotationAssertion( "NCI:C183527"^^xsd:string) AnnotationAssertion( "ORDO:280183"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia, TCblR type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria due to transcobalamin receptor defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060741"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia due to transcobalamin receptor defect"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia cblA type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12438653"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5686220"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251100"^^xsd:string) AnnotationAssertion( "EFO:0009073"^^xsd:string) AnnotationAssertion( "MESH:C537360"^^xsd:string) AnnotationAssertion( "NCI:C142171"^^xsd:string) AnnotationAssertion( "ORDO:79310"^^xsd:string) AnnotationAssertion( "CblA methylmalonic acidemia"^^xsd:string) AnnotationAssertion( "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A"^^xsd:string) AnnotationAssertion( "MMA due to MCM deficiency"^^xsd:string) AnnotationAssertion( "cobalamin A disease"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria (cobalamin deficiency) cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060742"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia cblA type"^^xsd:string) SubClassOf( ) # Class: (methylmalonic acidemia cblB type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12471062"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7213387"^^xsd:string) "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251110"^^xsd:string) AnnotationAssertion( "EFO:0009074"^^xsd:string) AnnotationAssertion( "MESH:C537361"^^xsd:string) AnnotationAssertion( "NCI:C142172"^^xsd:string) AnnotationAssertion( "ORDO:79311"^^xsd:string) AnnotationAssertion( "CblB methylmalonic acidemia"^^xsd:string) AnnotationAssertion( "Cobalamin B disease"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cblB type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria cb1B type"^^xsd:string) AnnotationAssertion( "DOID:0060743"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia cblB type"^^xsd:string) SubClassOf( ) # Class: (Pendred syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9398842"^^xsd:string) "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:274600"^^xsd:string) AnnotationAssertion( "SLC26A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SLC26A4-related disorder"^^xsd:string) AnnotationAssertion( "GARD:4271"^^xsd:string) AnnotationAssertion( "ICD10CM:E07.1"^^xsd:string) AnnotationAssertion( "MESH:C536648"^^xsd:string) AnnotationAssertion( "NCI:C121745"^^xsd:string) AnnotationAssertion( "ORDO:705"^^xsd:string) AnnotationAssertion( "Goiter-deafness syndrome"^^xsd:string) AnnotationAssertion( "PDS"^^xsd:string) AnnotationAssertion( "Pendred's syndrome"^^xsd:string) AnnotationAssertion( "TDH2B"^^xsd:string) AnnotationAssertion( "autosomal recessive sensorineural hearing impairment and goiter"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis, 2B"^^xsd:string) AnnotationAssertion( "deafness with goiter"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 2B"^^xsd:string) AnnotationAssertion( "thyroid dyshormonogenesis 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060744"^^xsd:string) AnnotationAssertion(rdfs:label "Pendred syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Doyne honeycomb retinal dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10369267"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11384588"^^xsd:string) "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:126600"^^xsd:string) AnnotationAssertion( "GARD:1912"^^xsd:string) AnnotationAssertion( "MESH:C535602"^^xsd:string) AnnotationAssertion( "ORDO:75376"^^xsd:string) AnnotationAssertion( "DHRD"^^xsd:string) AnnotationAssertion( "Malattia Leventinese"^^xsd:string) AnnotationAssertion( "Doyne honeycomb degeneration of retina"^^xsd:string) AnnotationAssertion( "MLVT"^^xsd:string) AnnotationAssertion( "radial drusen, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060745"^^xsd:string) AnnotationAssertion(rdfs:label "Doyne honeycomb retinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basal laminar drusen) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252232"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5448127"^^xsd:string) "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:126700"^^xsd:string) AnnotationAssertion( "MESH:C563034"^^xsd:string) AnnotationAssertion( "cuticular drusen"^^xsd:string) AnnotationAssertion( "drusen of Bruch membrane"^^xsd:string) AnnotationAssertion( "grouped drusen, early adult-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060746"^^xsd:string) AnnotationAssertion(rdfs:label "basal laminar drusen"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Duane-radial ray syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12393809"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12843316"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8882787"^^xsd:string) "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "SALL4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:9182"^^xsd:string) AnnotationAssertion( "MIM:607323"^^xsd:string) AnnotationAssertion( "MONDO:0011812"^^xsd:string) AnnotationAssertion( "ORDO:93293"^^xsd:string) AnnotationAssertion( "DR syndrome"^^xsd:string) AnnotationAssertion( "DRRS"^^xsd:string) AnnotationAssertion( "Duane anomaly with radial abnormalities and deafness"^^xsd:string) AnnotationAssertion( "Duane anomaly with radial ray abnormalities and deafness"^^xsd:string) AnnotationAssertion( "Okihiro syndrome"^^xsd:string) AnnotationAssertion( "SALL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "acro-renal-ocular syndrome"^^xsd:string) AnnotationAssertion( "acrorenocular syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060747"^^xsd:string) AnnotationAssertion(rdfs:label "Duane-radial ray syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10851389"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12205652"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15079010"^^xsd:string) "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600512"^^xsd:string) AnnotationAssertion( "RDO:0003114"^^xsd:string) AnnotationAssertion( "RDO:0008760"^^xsd:string) AnnotationAssertion( "MESH:C537297"^^xsd:string) AnnotationAssertion( "NCI:C141441"^^xsd:string) AnnotationAssertion( "ADLTE"^^xsd:string) AnnotationAssertion( "ADPEAF"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Lateral Temporal Lobe Epilepsy"^^xsd:string) AnnotationAssertion( "Autosomal dominant partial epilepsy with auditory features"^^xsd:string) AnnotationAssertion( "ETL1"^^xsd:string) AnnotationAssertion( "LGI1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "partial epilepsy with auditory features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060748"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24021842"^^xsd:string) "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002965"^^xsd:string) AnnotationAssertion( "MIM:615697"^^xsd:string) AnnotationAssertion( "ORDO:163717"^^xsd:string) AnnotationAssertion( "ETL6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060749"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17377072"^^xsd:string) "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611630"^^xsd:string) AnnotationAssertion( "RDO:0009548"^^xsd:string) AnnotationAssertion( "RDO:0015117"^^xsd:string) AnnotationAssertion( "MESH:C566903"^^xsd:string) AnnotationAssertion( "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE"^^xsd:string) AnnotationAssertion( "ETL3"^^xsd:string) AnnotationAssertion( "FMTLE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MDR1 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:0060750"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26046367"^^xsd:string) "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "RELN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616436"^^xsd:string) AnnotationAssertion( "ORDO:101046"^^xsd:string) AnnotationAssertion( "ETL7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060751"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21922598"^^xsd:string) "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000289"^^xsd:string) AnnotationAssertion( "CPA6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614417"^^xsd:string) AnnotationAssertion( "ETL5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060752"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17460155"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18332351"^^xsd:string) "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611631"^^xsd:string) AnnotationAssertion( "RDO:0015116"^^xsd:string) AnnotationAssertion( "MESH:C566902"^^xsd:string) AnnotationAssertion( "EPOLM"^^xsd:string) AnnotationAssertion( "ETL4"^^xsd:string) AnnotationAssertion( "Epilepsy, Occipitotemporal Lobe, And Migraine With Aura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060753"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25691535"^^xsd:string) "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001450"^^xsd:string) AnnotationAssertion( "MIM:616461"^^xsd:string) AnnotationAssertion( "ETL8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060754"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial temporal lobe epilepsy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12011300"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15342703"^^xsd:string) "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009163"^^xsd:string) AnnotationAssertion( "MIM:608096"^^xsd:string) AnnotationAssertion( "ORDO:98819"^^xsd:string) AnnotationAssertion( "ETL2"^^xsd:string) AnnotationAssertion( "FTLE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060755"^^xsd:string) AnnotationAssertion(rdfs:label "familial temporal lobe epilepsy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sclerosteosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11179006"^^xsd:string) "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "SOST-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:M85.2"^^xsd:string) AnnotationAssertion( "MIM:269500"^^xsd:string) AnnotationAssertion( "SOST1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060756"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosteosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sclerosteosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21471202"^^xsd:string) "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614305"^^xsd:string) AnnotationAssertion( "ORDO:3152"^^xsd:string) AnnotationAssertion( "SOST2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060757"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosteosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency with hyper-IgM type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11007475"^^xsd:string) "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10578"^^xsd:string) AnnotationAssertion( "MIM:605258"^^xsd:string) AnnotationAssertion( "MONDO:0011528"^^xsd:string) AnnotationAssertion( "NCI:C129074"^^xsd:string) AnnotationAssertion( "ORDO:101089"^^xsd:string) AnnotationAssertion( "AID deficiency"^^xsd:string) AnnotationAssertion( "HIGM2"^^xsd:string) AnnotationAssertion( "HIGM2 syndrome"^^xsd:string) AnnotationAssertion( "activation-induced cytidine deaminase deficiency"^^xsd:string) AnnotationAssertion( "hyper IgM immunodeficiency syndrome type 2"^^xsd:string) AnnotationAssertion( "hyper IgM syndrome 2"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060758"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency with hyper-IgM type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency with hyper IgM type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12958596"^^xsd:string) "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10581"^^xsd:string) AnnotationAssertion( "MIM:608106"^^xsd:string) AnnotationAssertion( "ORDO:101092"^^xsd:string) AnnotationAssertion( "HIGM5"^^xsd:string) AnnotationAssertion( "HIGM5 syndrome"^^xsd:string) AnnotationAssertion( "hyper IgM immunodeficiency syndrome type 5"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome 5"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome due to UNG deficiency"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome due to uracil N-glycosylase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060759"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency with hyper IgM type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency with hyper-IgM type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12840068"^^xsd:string) "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608184"^^xsd:string) AnnotationAssertion( "GARD:10580"^^xsd:string) AnnotationAssertion( "MESH:C564277"^^xsd:string) AnnotationAssertion( "NCI:C564277"^^xsd:string) AnnotationAssertion( "ORDO:101091"^^xsd:string) AnnotationAssertion( "HIGM4"^^xsd:string) AnnotationAssertion( "Hyper-Igm Syndrome 4"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060760"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency with hyper-IgM type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial chronic myelocytic leukemia-like syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8086739"^^xsd:string) "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO)"^^xsd:string) AnnotationAssertion( "MIM:600080"^^xsd:string) AnnotationAssertion( "MESH:C536093"^^xsd:string) AnnotationAssertion( "Cml-Like Syndrome, Familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060761"^^xsd:string) AnnotationAssertion(rdfs:label "familial chronic myelocytic leukemia-like syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (restrictive dermopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15317753"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20101687"^^xsd:string) "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1516"^^xsd:string) AnnotationAssertion( "MESH:C536920"^^xsd:string) AnnotationAssertion( "MIM:PS275210"^^xsd:string) AnnotationAssertion( "ORDO:1662"^^xsd:string) AnnotationAssertion( "fetal hypokinesia sequence due to restrictive dermopathy"^^xsd:string) AnnotationAssertion( "hyperkeratosis-contracture syndrome"^^xsd:string) AnnotationAssertion( "infantile restrictive dermopathy"^^xsd:string) AnnotationAssertion( "lethal restrictive dermopathy"^^xsd:string) AnnotationAssertion( "lethal tight skin contracture syndrome"^^xsd:string) AnnotationAssertion( "tight skin contracture syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060762"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive dermopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked juvenile retinoschisis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17172462"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326935"^^xsd:string) "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003957"^^xsd:string) AnnotationAssertion( "ICD10CM:Q14.1"^^xsd:string) AnnotationAssertion( "MIM:312700"^^xsd:string) AnnotationAssertion( "NCI:C75483"^^xsd:string) AnnotationAssertion( "ORDO:792"^^xsd:string) AnnotationAssertion( "RS1"^^xsd:string) AnnotationAssertion( "X-linked juvenile retinoschisis"^^xsd:string) AnnotationAssertion( "X-linked retinoschisis"^^xsd:string) AnnotationAssertion( "XLRS"^^xsd:string) AnnotationAssertion( "XLRS1"^^xsd:string) AnnotationAssertion( "congenital X-linked retinoschisis"^^xsd:string) AnnotationAssertion( "juvenile retinoschisis, X chromosome-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060763"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked juvenile retinoschisis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive Robinow syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10932186"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10932187"^^xsd:string) "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268310"^^xsd:string) AnnotationAssertion( "ROR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ROR2-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C535863"^^xsd:string) AnnotationAssertion( "ORDO:1507"^^xsd:string) AnnotationAssertion( "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA"^^xsd:string) AnnotationAssertion( "RRS"^^xsd:string) AnnotationAssertion( "costovertebral segmentation defect-mesomelia syndrome"^^xsd:string) AnnotationAssertion( "BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Covesdem Syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals"^^xsd:string) AnnotationAssertion( "autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1"^^xsd:string) AnnotationAssertion( "autosomal recessive Robinow syndrome, with brachy-syn-polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060764"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive Robinow syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Robinow syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25817014"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26924530"^^xsd:string) "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616331"^^xsd:string) AnnotationAssertion( "DRS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060765"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Robinow syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Robinow syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19918918"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24716670"^^xsd:string) "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:180700"^^xsd:string) AnnotationAssertion( "ORDO:3107"^^xsd:string) AnnotationAssertion( "DRS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060766"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Robinow syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Robinow syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26924530"^^xsd:string) "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616894"^^xsd:string) AnnotationAssertion( "ORDO:97360"^^xsd:string) AnnotationAssertion( "DRS3"^^xsd:string) AnnotationAssertion( "DVL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060767"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Robinow syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Smith-Magenis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1310/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16845274"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21844811"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6745947"^^xsd:string) "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182290"^^xsd:string) AnnotationAssertion( "GARD:8197"^^xsd:string) AnnotationAssertion( "MESH:D058496"^^xsd:string) AnnotationAssertion( "NCI:C75469"^^xsd:string) AnnotationAssertion( "ORDO:819"^^xsd:string) AnnotationAssertion( "17p11.2 Monosomy"^^xsd:string) AnnotationAssertion( "17p11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17p11.2 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "RAI1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SMCR"^^xsd:string) AnnotationAssertion( "SMS"^^xsd:string) AnnotationAssertion( "Smith-Magenis syndrome chromosome region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SMITH-MAGENIS SYNDROME-LIKE"^^xsd:string) AnnotationAssertion( "DOID:0060768"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-Magenis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T-cell immunodeficiency, congenital alopecia, and nail dystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10206641"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8911612"^^xsd:string) "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601705"^^xsd:string) AnnotationAssertion( "ICD10CM:D82.8"^^xsd:string) AnnotationAssertion( "MESH:C536781"^^xsd:string) AnnotationAssertion( "ORDO:169095"^^xsd:string) AnnotationAssertion( "Pignata Guarino syndrome"^^xsd:string) AnnotationAssertion( "alymphoid cystic thymic dysgenesis"^^xsd:string) AnnotationAssertion( "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency"^^xsd:string) AnnotationAssertion( "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome"^^xsd:string) AnnotationAssertion( "winged helix deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060769"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dextro-looped transposition of the great arteries) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11799476"^^xsd:string) "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060771"^^xsd:string) AnnotationAssertion( "MESH:C563853"^^xsd:string) AnnotationAssertion( "MIM:608808"^^xsd:string) AnnotationAssertion( "MED13L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MED13L-related disorder"^^xsd:string) AnnotationAssertion( "ICD10CM:Q20.3"^^xsd:string) AnnotationAssertion( "MESH:D014188"^^xsd:string) AnnotationAssertion( "MONDO:0000153"^^xsd:string) AnnotationAssertion( "NCI:C84742"^^xsd:string) AnnotationAssertion( "ORDO:860"^^xsd:string) AnnotationAssertion( "D-TGA"^^xsd:string) AnnotationAssertion( "DTGA1"^^xsd:string) AnnotationAssertion( "TRANSPOSITION OF THE GREAT ARTERIES"^^xsd:string) AnnotationAssertion( "congenitally uncorrected transposition of the great arteries"^^xsd:string) AnnotationAssertion( "congenitally uncorrected transposition of the great vessels"^^xsd:string) AnnotationAssertion( "dextro-looped transposition of the great arteries 1"^^xsd:string) AnnotationAssertion( "great arteries transposition"^^xsd:string) AnnotationAssertion( "great arteries transpositions"^^xsd:string) AnnotationAssertion( "great vessels transposition"^^xsd:string) AnnotationAssertion( "great vessels transpositions"^^xsd:string) AnnotationAssertion( "isolated ventriculoarterial discordance"^^xsd:string) AnnotationAssertion( "transposition of great arteries"^^xsd:string) AnnotationAssertion( "transposition of great vessels"^^xsd:string) AnnotationAssertion( "ventriculoarterial discordance with atrioventricular concordance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060770"^^xsd:string) AnnotationAssertion(rdfs:label "dextro-looped transposition of the great arteries"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (multiple types of congenital heart defects 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17924340"^^xsd:string) "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "GDF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GDF1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:613854"^^xsd:string) AnnotationAssertion( "CHTD6"^^xsd:string) AnnotationAssertion( "DTGA3"^^xsd:string) AnnotationAssertion( "congenital heart defects, multiple types, 6"^^xsd:string) AnnotationAssertion( "dextro-looped transposition of the great arteries 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060772"^^xsd:string) AnnotationAssertion(rdfs:label "multiple types of congenital heart defects 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cleft lip-palate-ectodermal dysplasia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3035184"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9758630"^^xsd:string) "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225060"^^xsd:string) AnnotationAssertion( "GARD:375"^^xsd:string) AnnotationAssertion( "MESH:C536726"^^xsd:string) AnnotationAssertion( "NCI:C122656"^^xsd:string) AnnotationAssertion( "ORDO:3253"^^xsd:string) AnnotationAssertion( "Bustos Simosa Pinto Cisternas syndrome"^^xsd:string) AnnotationAssertion( "CLPED1"^^xsd:string) AnnotationAssertion( "ED4"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia Margarita island type"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly"^^xsd:string) AnnotationAssertion( "Margarita type of ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "Zlotogora-Ogur syndrome"^^xsd:string) AnnotationAssertion( "Zlotogora-Zilberman-Tenenbaum syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "cleft lip/palate-syndactyly-pili torti syndrome"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia type 4"^^xsd:string) AnnotationAssertion( "syndactyly-ectodermal dysplasia-cleft/lip palate"^^xsd:string) AnnotationAssertion( "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7"^^xsd:string) AnnotationAssertion( "OFC7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060773"^^xsd:string) AnnotationAssertion(rdfs:label "cleft lip-palate-ectodermal dysplasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital diarrhea) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22605972"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30894704"^^xsd:string) "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS214700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060774"^^xsd:string) AnnotationAssertion(rdfs:label "congenital diarrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microvillus inclusion disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18724368"^^xsd:string) "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251850"^^xsd:string) AnnotationAssertion( "MYO5B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7039"^^xsd:string) AnnotationAssertion( "MESH:C537470"^^xsd:string) AnnotationAssertion( "ORDO:2290"^^xsd:string) AnnotationAssertion( "DIAR2"^^xsd:string) AnnotationAssertion( "Davidson disease"^^xsd:string) AnnotationAssertion( "MVD"^^xsd:string) AnnotationAssertion( "MVID"^^xsd:string) AnnotationAssertion( "MVID1"^^xsd:string) AnnotationAssertion( "congenital familial protracted diarrhea with enterocyte brush-border abnormalities"^^xsd:string) AnnotationAssertion( "congenital microvillous atrophy"^^xsd:string) AnnotationAssertion( "congenital microvillus atrophy"^^xsd:string) AnnotationAssertion( "diarrhea 2 with microvillus atrophy"^^xsd:string) AnnotationAssertion( "diarrhea with microvillus atrophy"^^xsd:string) AnnotationAssertion( "intractable diarrhea of infancy"^^xsd:string) AnnotationAssertion( "microvillus inclusion disease 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060775"^^xsd:string) AnnotationAssertion(rdfs:label "microvillus inclusion disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital diarrhea 5 with tufting enteropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18572020"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23462293"^^xsd:string) "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613217"^^xsd:string) AnnotationAssertion( "MESH:C567703"^^xsd:string) AnnotationAssertion( "NCI:C183530"^^xsd:string) AnnotationAssertion( "ORDO:92050"^^xsd:string) AnnotationAssertion( "CTE"^^xsd:string) AnnotationAssertion( "DIAR5"^^xsd:string) AnnotationAssertion( "congenital diarrhoea 5 with tufting enteropathy"^^xsd:string) AnnotationAssertion( "congenital familial intractable diarrhea with epithelial or epithelium abnormalities"^^xsd:string) AnnotationAssertion( "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities"^^xsd:string) AnnotationAssertion( "congenital tufting enteropathy"^^xsd:string) AnnotationAssertion( "intestinal epithelial cell dysplasia"^^xsd:string) AnnotationAssertion( "tufting enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060776"^^xsd:string) AnnotationAssertion(rdfs:label "congenital diarrhea 5 with tufting enteropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital secretory sodium diarrhea 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26358773"^^xsd:string) "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616868"^^xsd:string) AnnotationAssertion( "ORDO:103908"^^xsd:string) AnnotationAssertion( "CSD"^^xsd:string) AnnotationAssertion( "DIAR8"^^xsd:string) AnnotationAssertion( "congenital sodium diarrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060777"^^xsd:string) AnnotationAssertion(rdfs:label "congenital secretory sodium diarrhea 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital diarrhea 7 with exudative enteropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23114594"^^xsd:string) "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9009029"^^xsd:string) AnnotationAssertion( "ICD10CM:P78.3"^^xsd:string) AnnotationAssertion( "MIM:615863"^^xsd:string) AnnotationAssertion( "ORDO:329242"^^xsd:string) AnnotationAssertion( "DIAR7"^^xsd:string) AnnotationAssertion( "congenital chronic diarrhea with exudative enteropathy"^^xsd:string) AnnotationAssertion( "congenital chronic diarrhea with protein-losing enteropathy"^^xsd:string) AnnotationAssertion( "congenital chronic diarrhoea with exudative enteropathy"^^xsd:string) AnnotationAssertion( "congenital chronic diarrhoea with protein-losing enteropathy"^^xsd:string) AnnotationAssertion( "congenital diarrhoea 7 with exudative enteropathy"^^xsd:string) AnnotationAssertion( "diarrhea 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060778"^^xsd:string) AnnotationAssertion(rdfs:label "congenital diarrhea 7 with exudative enteropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital malabsorptive diarrhea 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16855267"^^xsd:string) "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610370"^^xsd:string) AnnotationAssertion( "MESH:C563673"^^xsd:string) AnnotationAssertion( "ORDO:83620"^^xsd:string) AnnotationAssertion( "DIAR4"^^xsd:string) AnnotationAssertion( "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"^^xsd:string) AnnotationAssertion( "congenital malabsorptive diarrhoea 4"^^xsd:string) AnnotationAssertion( "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells"^^xsd:string) AnnotationAssertion( "enteric anendocrinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060779"^^xsd:string) AnnotationAssertion(rdfs:label "congenital malabsorptive diarrhea 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital diarrhea 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22436048"^^xsd:string) "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9004022"^^xsd:string) AnnotationAssertion( "MIM:614616"^^xsd:string) AnnotationAssertion( "ORDO:314373"^^xsd:string) AnnotationAssertion( "DIAR6"^^xsd:string) AnnotationAssertion( "Diarrhea 6"^^xsd:string) AnnotationAssertion( "chronic diarrhea due to guanylate cyclase 2C overactivity"^^xsd:string) AnnotationAssertion( "chronic diarrhoea due to guanylate cyclase 2C overactivity"^^xsd:string) AnnotationAssertion( "congenital diarrhoea 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060780"^^xsd:string) AnnotationAssertion(rdfs:label "congenital diarrhea 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital secretory sodium diarrhea 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19185281"^^xsd:string) "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270420"^^xsd:string) AnnotationAssertion( "MESH:C562576"^^xsd:string) AnnotationAssertion( "CSD"^^xsd:string) AnnotationAssertion( "DIAR3"^^xsd:string) AnnotationAssertion( "congenital secretory sodium diarrhea 3, syndromic"^^xsd:string) AnnotationAssertion( "congenital secretory sodium diarrhea 3, with or without other congenital anomalies"^^xsd:string) AnnotationAssertion( "congenital secretory sodium diarrhoea 3"^^xsd:string) AnnotationAssertion( "congenital secretory sodium diarrhoea 3 syndromic"^^xsd:string) AnnotationAssertion( "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies"^^xsd:string) AnnotationAssertion( "congenital sodium diarrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060781"^^xsd:string) AnnotationAssertion(rdfs:label "congenital secretory sodium diarrhea 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (EEC syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome"^^xsd:string) "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536189"^^xsd:string) AnnotationAssertion( "Rudiger syndrome 1"^^xsd:string) AnnotationAssertion( "Walker-Clodius syndrome"^^xsd:string) AnnotationAssertion( "cleft lip-cleft palate-lobster claw deformity syndrome"^^xsd:string) AnnotationAssertion( "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome"^^xsd:string) AnnotationAssertion( "ectrodactyly-cleft lip/palate syndrome"^^xsd:string) AnnotationAssertion( "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome"^^xsd:string) AnnotationAssertion( "ectrodactyly-ectodermal dysplasia-clefting syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060782"^^xsd:string) AnnotationAssertion(rdfs:label "EEC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10535733"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8737655"^^xsd:string) "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604292"^^xsd:string) AnnotationAssertion( "MESH:C565799"^^xsd:string) AnnotationAssertion( "NCI:C148261"^^xsd:string) AnnotationAssertion( "EEC Syndrome 3"^^xsd:string) AnnotationAssertion( "EEC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060783"^^xsd:string) AnnotationAssertion(rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1424230"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5454938"^^xsd:string) "An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:129900"^^xsd:string) AnnotationAssertion( "MESH:C565062"^^xsd:string) AnnotationAssertion( "ORDO:1896"^^xsd:string) AnnotationAssertion( "EEC"^^xsd:string) AnnotationAssertion( "EEC Syndrome 1"^^xsd:string) AnnotationAssertion( "EEC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060784"^^xsd:string) AnnotationAssertion(rdfs:label "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult-onset autosomal dominant demyelinating leukodystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16951681"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19151023"^^xsd:string) "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169500"^^xsd:string) AnnotationAssertion( "LMNB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10587"^^xsd:string) AnnotationAssertion( "MESH:C566813"^^xsd:string) AnnotationAssertion( "ORDO:99027"^^xsd:string) AnnotationAssertion( "ADLD"^^xsd:string) AnnotationAssertion( "adult-onset autosomal dominant leukodystrophy"^^xsd:string) AnnotationAssertion( "adult-onset leukodystrophy"^^xsd:string) AnnotationAssertion( "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease"^^xsd:string) AnnotationAssertion( "multiple sclerosis-like disorder"^^xsd:string) AnnotationAssertion( "SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060785"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset autosomal dominant demyelinating leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24916848/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25649058/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27234264/"^^xsd:string) "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS312080"^^xsd:string) AnnotationAssertion( "HLD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060786"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15192806"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18094336"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608804"^^xsd:string) AnnotationAssertion( "MESH:C563855"^^xsd:string) AnnotationAssertion( "ORDO:280282"^^xsd:string) AnnotationAssertion( "HLD2"^^xsd:string) AnnotationAssertion( "PMLD1"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher-Like disease, 1"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060787"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25865492"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27130255"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616420"^^xsd:string) AnnotationAssertion( "HLD10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060788"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18571143"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612233"^^xsd:string) AnnotationAssertion( "MESH:C567390"^^xsd:string) AnnotationAssertion( "ORDO:280288"^^xsd:string) AnnotationAssertion( "HLD4"^^xsd:string) AnnotationAssertion( "MITCHAP60 disease"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"^^xsd:string) AnnotationAssertion( "mitochondrial HSP60 chaperonopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060789"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21092922"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24958424"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260600"^^xsd:string) AnnotationAssertion( "MESH:C536319"^^xsd:string) AnnotationAssertion( "ORDO:280293"^^xsd:string) AnnotationAssertion( "HLD3"^^xsd:string) AnnotationAssertion( "Leukodystrophy, hypomyelinating, 3"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher-like Disease, Autosomal Recessive, 2"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"^^xsd:string) AnnotationAssertion( "Perinatal Sudanophilic leukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060790"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24777941"^^xsd:string) "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616140"^^xsd:string) AnnotationAssertion( "ORDO:438114"^^xsd:string) AnnotationAssertion( "HLD9"^^xsd:string) AnnotationAssertion( "RARS-related autosomal recessive hypomyelinating leukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060791"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26151409"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "POLR1C-related disorder"^^xsd:string) AnnotationAssertion( "POLR1C-related disorders"^^xsd:string) AnnotationAssertion( "MIM:616494"^^xsd:string) AnnotationAssertion( "MONDO:0014666"^^xsd:string) AnnotationAssertion( "4H leukodystrophy 3"^^xsd:string) AnnotationAssertion( "HLD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060792"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16951682"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17683097"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610532"^^xsd:string) AnnotationAssertion( "ICD10CM:G37.8"^^xsd:string) AnnotationAssertion( "MESH:C567166"^^xsd:string) AnnotationAssertion( "ORDO:85163"^^xsd:string) AnnotationAssertion( "HLD5"^^xsd:string) AnnotationAssertion( "hypomyelination and congenital cataract"^^xsd:string) AnnotationAssertion( "hypomyelination and congenital cataract: HCC"^^xsd:string) AnnotationAssertion( "hypomyelination-congenital cataract syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060793"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12605447"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21855841"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "POLR3A-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "POLR3A-RELATED NEUROLOGICAL DISORDER"^^xsd:string) AnnotationAssertion( "ICD10CM:G11.1"^^xsd:string) AnnotationAssertion( "MESH:C567313"^^xsd:string) AnnotationAssertion( "MIM:607694"^^xsd:string) AnnotationAssertion( "MONDO:0019505"^^xsd:string) AnnotationAssertion( "ORDO:137639"^^xsd:string) AnnotationAssertion( "ORDO:447893"^^xsd:string) AnnotationAssertion( "ORDO:447896"^^xsd:string) AnnotationAssertion( "ORDO:77295"^^xsd:string) AnnotationAssertion( "4H leukodystrophy 1"^^xsd:string) AnnotationAssertion( "4H syndrome"^^xsd:string) AnnotationAssertion( "ADDH"^^xsd:string) AnnotationAssertion( "HLD7"^^xsd:string) AnnotationAssertion( "HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME"^^xsd:string) AnnotationAssertion( "POL III-related leukodystrophy"^^xsd:string) AnnotationAssertion( "POLR3-RELATED LEUKODYSTROPHY"^^xsd:string) AnnotationAssertion( "TACH syndrome"^^xsd:string) AnnotationAssertion( "ataxia, delayed dentition, and hypomyelination"^^xsd:string) AnnotationAssertion( "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy"^^xsd:string) AnnotationAssertion( "dentoleukoencephalopathy"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "hypomyelinating leukoencephalopathy with ataxia and delayed dentition"^^xsd:string) AnnotationAssertion( "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"^^xsd:string) AnnotationAssertion( "leukodystrophy with oligodontia"^^xsd:string) AnnotationAssertion( "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"^^xsd:string) AnnotationAssertion( "tremor-ataxia-central hypomyelination syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060794"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26545878"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616881"^^xsd:string) AnnotationAssertion( "HIKESHI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HLD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060795"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26307567"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27120463"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002152"^^xsd:string) AnnotationAssertion( "MIM:616683"^^xsd:string) AnnotationAssertion( "HLD12"^^xsd:string) AnnotationAssertion( "neuroaxonal dystrophy, VPS11-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060796"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22036171"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22036172"^^xsd:string) "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003813"^^xsd:string) AnnotationAssertion( "MIM:614381"^^xsd:string) AnnotationAssertion( "MESH:C535353"^^xsd:string) AnnotationAssertion( "NCI:C180850"^^xsd:string) AnnotationAssertion( "4H leukodystrophy 2"^^xsd:string) AnnotationAssertion( "ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "HLD8"^^xsd:string) AnnotationAssertion( "cerebellar hypoplasia with endosteal sclerosis"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060797"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23582646"^^xsd:string) "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612438"^^xsd:string) AnnotationAssertion( "MESH:C567314"^^xsd:string) AnnotationAssertion( "NCI:C183310"^^xsd:string) AnnotationAssertion( "ORDO:139441"^^xsd:string) AnnotationAssertion( "H-ABC"^^xsd:string) AnnotationAssertion( "HABC"^^xsd:string) AnnotationAssertion( "HLD6"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum"^^xsd:string) AnnotationAssertion( "hypomyelination with atrophy of basal ganglia and cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060798"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Lubs type) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15689435"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20425814"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080713"^^xsd:string) AnnotationAssertion( "MIM:300260"^^xsd:string) AnnotationAssertion( "GARD:9781"^^xsd:string) AnnotationAssertion( "MESH:C537723"^^xsd:string) AnnotationAssertion( "NCI:C126747"^^xsd:string) AnnotationAssertion( "ORDO:85281"^^xsd:string) AnnotationAssertion( "Lubs X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "MECP2 duplication syndrome"^^xsd:string) AnnotationAssertion( "MRXSL"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-hypotonia-recurrent infections syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with recurrent respiratory infections"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Lubs type"^^xsd:string) AnnotationAssertion( "XLMR syndrome, Lubs type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Lubs type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Lubs type"^^xsd:string) AnnotationAssertion( "trisomy Xq28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060799"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Lubs type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19377476"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23756445"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304340"^^xsd:string) AnnotationAssertion( "RDO:0001074"^^xsd:string) AnnotationAssertion( "RDO:0013418"^^xsd:string) AnnotationAssertion( "MESH:C535773"^^xsd:string) AnnotationAssertion( "MESH:C564470"^^xsd:string) AnnotationAssertion( "NCI:C124839"^^xsd:string) AnnotationAssertion( "ORDO:1568"^^xsd:string) AnnotationAssertion( "ORDO:85335"^^xsd:string) AnnotationAssertion( "Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures"^^xsd:string) AnnotationAssertion( "Fried syndrome"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED 59"^^xsd:string) AnnotationAssertion( "MRX59"^^xsd:string) AnnotationAssertion( "MRXS21"^^xsd:string) AnnotationAssertion( "MRXS5"^^xsd:string) AnnotationAssertion( "MRXSF"^^xsd:string) AnnotationAssertion( "PGS"^^xsd:string) AnnotationAssertion( "Pettigrew syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures"^^xsd:string) AnnotationAssertion( "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked syndromic 21"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked syndromic 5"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked syndromic, Fried type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060800"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MEHMO syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032729"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9781023"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537451"^^xsd:string) AnnotationAssertion( "MIM:300148"^^xsd:string) AnnotationAssertion( "MONDO:0010258"^^xsd:string) AnnotationAssertion( "ORDO:85282"^^xsd:string) AnnotationAssertion( "Borck type of X-linked syndromic mental retardation"^^xsd:string) AnnotationAssertion( "MEHMO"^^xsd:string) AnnotationAssertion( "MRXS20"^^xsd:string) AnnotationAssertion( "MRXS25"^^xsd:string) AnnotationAssertion( "MRXSBRK"^^xsd:string) AnnotationAssertion( "X-linked MEHMO syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, syndromic, Borck type"^^xsd:string) AnnotationAssertion( "X-linked syndromic mental retardation 20"^^xsd:string) AnnotationAssertion( "X-linked syndromic mental retardation 25"^^xsd:string) AnnotationAssertion( "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060801"^^xsd:string) AnnotationAssertion(rdfs:label "MEHMO syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Snyder type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14508504"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23696453"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309583"^^xsd:string) AnnotationAssertion( "GARD:5615"^^xsd:string) AnnotationAssertion( "MESH:C536678"^^xsd:string) AnnotationAssertion( "ORDO:3063"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE"^^xsd:string) AnnotationAssertion( "MRXSSR"^^xsd:string) AnnotationAssertion( "SMS-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "SRS"^^xsd:string) AnnotationAssertion( "Snyder-Robinson mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Snyder-Robinson syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Snyder-Robinson type"^^xsd:string) AnnotationAssertion( "spermine synthase deficiency"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Snyder-Robinson type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060802"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Snyder type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21744492"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300858"^^xsd:string) AnnotationAssertion( "ORDO:289483"^^xsd:string) AnnotationAssertion( "MRXS17"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with alacrima and achalasia"^^xsd:string) AnnotationAssertion( "intellectual disability-alacrima-achalasia syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 17"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060803"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1357179"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309545"^^xsd:string) AnnotationAssertion( "MESH:C564106"^^xsd:string) AnnotationAssertion( "ORDO:85290"^^xsd:string) AnnotationAssertion( "MRXS12"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Wilson type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 12"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060804"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 12"^^xsd:string) SubClassOf( ) # Class: (Prieto syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1673297"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3121220"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535274"^^xsd:string) AnnotationAssertion( "MIM:309610"^^xsd:string) AnnotationAssertion( "MONDO:0010667"^^xsd:string) AnnotationAssertion( "ORDO:2958"^^xsd:string) AnnotationAssertion( "MRXS2"^^xsd:string) AnnotationAssertion( "PRS"^^xsd:string) AnnotationAssertion( "Prieto X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Prieto-Badia-Mulas syndrome"^^xsd:string) AnnotationAssertion( "X-linked dysmorphic syndrome with mental retardation"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, syndromic 2"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with dysmorphism and cerebral atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060805"^^xsd:string) AnnotationAssertion(rdfs:label "Prieto syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Hedera type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11782983"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15746149"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300423"^^xsd:string) AnnotationAssertion( "MESH:C564516"^^xsd:string) AnnotationAssertion( "ORDO:93952"^^xsd:string) AnnotationAssertion( "MRXE"^^xsd:string) AnnotationAssertion( "MRXSH"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with epilepsy"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Hedera type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Hedera type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060806"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Hedera type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Najm type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19165920"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21954287"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "CASK-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED"^^xsd:string) AnnotationAssertion( "EFO:0010954"^^xsd:string) AnnotationAssertion( "GARD:12669"^^xsd:string) AnnotationAssertion( "MESH:C567466"^^xsd:string) AnnotationAssertion( "MIM:300749"^^xsd:string) AnnotationAssertion( "MONDO:0010417"^^xsd:string) AnnotationAssertion( "ORDO:163937"^^xsd:string) AnnotationAssertion( "MICPCH"^^xsd:string) AnnotationAssertion( "MICPCH syndrome"^^xsd:string) AnnotationAssertion( "MRXSNA"^^xsd:string) AnnotationAssertion( "Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Najm type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060807"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Najm type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10573017"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300218"^^xsd:string) AnnotationAssertion( "GARD:9156"^^xsd:string) AnnotationAssertion( "MESH:C537449"^^xsd:string) AnnotationAssertion( "ORDO:85274"^^xsd:string) AnnotationAssertion( "Ahmad X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "MRXS7"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Ahmad type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 7"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060808"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 7"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Claes-Jensen type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10982473"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15586325"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564494"^^xsd:string) AnnotationAssertion( "MIM:300534"^^xsd:string) AnnotationAssertion( "MONDO:0010355"^^xsd:string) AnnotationAssertion( "ORDO:85279"^^xsd:string) AnnotationAssertion( "KDM5C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRXSCJ"^^xsd:string) AnnotationAssertion( "MRXSJ"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Claes-Jensen type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual disability due to JARID1C mutation"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation JARID1C-related"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Claes-Jensen type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060809"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Claes-Jensen type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10521307"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236142"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300438"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.5"^^xsd:string) AnnotationAssertion( "MESH:C564560"^^xsd:string) AnnotationAssertion( "ORDO:85295"^^xsd:string) AnnotationAssertion( "17-Beta-Hydroxysteroid Dehydrogenase X Deficiency"^^xsd:string) AnnotationAssertion( "17beta-hydroxysteroid dehydrogenase type 10 deficiency"^^xsd:string) AnnotationAssertion( "2-Methyl-3-Hydroxybutyric Aciduria"^^xsd:string) AnnotationAssertion( "2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3-Hydroxyacyl-CoA Dehydrogenase II Deficiency"^^xsd:string) AnnotationAssertion( "3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency"^^xsd:string) AnnotationAssertion( "CAMR"^^xsd:string) AnnotationAssertion( "Chorioathetosis With Mental Retardation And Abnormal Behavior"^^xsd:string) AnnotationAssertion( "HSD10 MITOCHONDRIAL DISEASE"^^xsd:string) AnnotationAssertion( "HSD10 deficiency, atypical type"^^xsd:string) AnnotationAssertion( "HSD10 disease, atypical type"^^xsd:string) AnnotationAssertion( "HSD10MD"^^xsd:string) AnnotationAssertion( "HSD17B10 Deficiency"^^xsd:string) AnnotationAssertion( "HSD17B10-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "Hydroxyacyl-CoA Dehydrogenase II Deficiency"^^xsd:string) AnnotationAssertion( "MHBD deficiency"^^xsd:string) AnnotationAssertion( "MRXS10"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"^^xsd:string) AnnotationAssertion( "hydroxyacyl-CoA dehydrogenase type 2 deficiency"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060810"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability type 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Turner type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252223"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7943042"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060829"^^xsd:string) AnnotationAssertion( "MIM:300612"^^xsd:string) AnnotationAssertion( "MIM:309590"^^xsd:string) AnnotationAssertion( "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "HUWE1-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C563154"^^xsd:string) AnnotationAssertion( "MESH:C567476"^^xsd:string) AnnotationAssertion( "ORDO:3056"^^xsd:string) AnnotationAssertion( "ORDO:85328"^^xsd:string) AnnotationAssertion( "Brooks-Wisniewski-Brown syndrome"^^xsd:string) AnnotationAssertion( "HUWE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "JMS"^^xsd:string) AnnotationAssertion( "Juberg-Marsidi mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Juberg-Marsidi syndrome"^^xsd:string) AnnotationAssertion( "MRXS-Turner"^^xsd:string) AnnotationAssertion( "MRXSBWB"^^xsd:string) AnnotationAssertion( "MRXST"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder, Turner type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Brooks type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with growth delay, deafness, microgenitalism"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with growth retardation, deafness, and microgenitalism"^^xsd:string) AnnotationAssertion( "mental retardation and macrocephaly syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Turner type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Turner type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060811"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Turner type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Siderius type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10398231"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16199551"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300263"^^xsd:string) AnnotationAssertion( "MESH:C537333"^^xsd:string) AnnotationAssertion( "ORDO:85287"^^xsd:string) AnnotationAssertion( "MRXSSD"^^xsd:string) AnnotationAssertion( "Siderius Hamel syndrome"^^xsd:string) AnnotationAssertion( "Siderius X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndrome, Siderius type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Siderius type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Siderius type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060812"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Siderius type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Shrimpton type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10331611"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10797443"^^xsd:string) "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300709"^^xsd:string) AnnotationAssertion( "MESH:C567474"^^xsd:string) AnnotationAssertion( "ORDO:85324"^^xsd:string) AnnotationAssertion( "MRXS9"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 9"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060813"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Shrimpton type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wilson-Turner syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1746601"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25644381"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309585"^^xsd:string) AnnotationAssertion( "GARD:5579"^^xsd:string) AnnotationAssertion( "MESH:C536708"^^xsd:string) AnnotationAssertion( "ORDO:3459"^^xsd:string) AnnotationAssertion( "MRXS6"^^xsd:string) AnnotationAssertion( "MRXSWT"^^xsd:string) AnnotationAssertion( "WTS"^^xsd:string) AnnotationAssertion( "Wilson Turner mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Wilson-Turner X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-gynecomastia-obesity syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with gynecomastia and obesity"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Wilson-Turner type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060814"^^xsd:string) AnnotationAssertion(rdfs:label "Wilson-Turner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Miles-Carpenter syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2018061"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:314580"^^xsd:string) AnnotationAssertion( "MESH:C536703"^^xsd:string) AnnotationAssertion( "MIM:PS314580"^^xsd:string) AnnotationAssertion( "MONDO:0025445"^^xsd:string) AnnotationAssertion( "ORDO:85283"^^xsd:string) AnnotationAssertion( "Contractures of feet, muscle atrophy, and oculomotor apraxia"^^xsd:string) AnnotationAssertion( "MCS"^^xsd:string) AnnotationAssertion( "MRXS4"^^xsd:string) AnnotationAssertion( "Miles-Carpenter X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "WRWF"^^xsd:string) AnnotationAssertion( "Wieacker-Wolff syndrome"^^xsd:string) AnnotationAssertion( "Wieacker-Wolff syndrome (spectrum)"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, Miles-Carpenter type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with congenital contractures and low fingertip arches"^^xsd:string) AnnotationAssertion( "ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "oculomotor apraxia, with congenital contractures and muscle atrophy"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060815"^^xsd:string) AnnotationAssertion(rdfs:label "Miles-Carpenter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14556245"^^xsd:string) "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300472"^^xsd:string) AnnotationAssertion( "MESH:C564509"^^xsd:string) AnnotationAssertion( "ORDO:52055"^^xsd:string) AnnotationAssertion( "Graham-Cox syndrome"^^xsd:string) AnnotationAssertion( "IGBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC 28"^^xsd:string) AnnotationAssertion( "MRXS28"^^xsd:string) AnnotationAssertion( "agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia"^^xsd:string) AnnotationAssertion( "agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060816"^^xsd:string) AnnotationAssertion(rdfs:label "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26571461"^^xsd:string) "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300967"^^xsd:string) AnnotationAssertion( "ORDO:466791"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE"^^xsd:string) AnnotationAssertion( "MRXS34"^^xsd:string) AnnotationAssertion( "MRXSML"^^xsd:string) AnnotationAssertion( "macrocephaly-intellectual disability-left ventricular non compaction syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 34"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060817"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 34"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Abidi type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10398233"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300262"^^xsd:string) AnnotationAssertion( "MESH:C535556"^^xsd:string) AnnotationAssertion( "ORDO:85273"^^xsd:string) AnnotationAssertion( "MRXSAB"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Abidi type"^^xsd:string) AnnotationAssertion( "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Abidi type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation Abidi type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060818"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Abidi type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Chudley-Schwartz type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10398239"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300861"^^xsd:string) AnnotationAssertion( "MRXSCS"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Chudley-Schwartz type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060819"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Chudley-Schwartz type"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Nascimento type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16909393"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20412111"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300860"^^xsd:string) AnnotationAssertion( "NCI:C202069"^^xsd:string) AnnotationAssertion( "ORDO:163956"^^xsd:string) AnnotationAssertion( "MRXS30"^^xsd:string) AnnotationAssertion( "MRXSN"^^xsd:string) AnnotationAssertion( "Nascimento form of syndromic X-linked intellectual developmental disorder"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-nail dystrophy-seizures syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Nascimento type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 30"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Nascimento type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060820"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Nascimento type"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17704778"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22957832"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300676"^^xsd:string) AnnotationAssertion( "MESH:C567063"^^xsd:string) AnnotationAssertion( "ORDO:323"^^xsd:string) AnnotationAssertion( "ORDO:776"^^xsd:string) AnnotationAssertion( "MRXS14"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 14"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060821"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 14"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Cabezas type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10978355"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236139"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564527"^^xsd:string) AnnotationAssertion( "MIM:300354"^^xsd:string) AnnotationAssertion( "GARD:13244"^^xsd:string) AnnotationAssertion( "MESH:C567069"^^xsd:string) AnnotationAssertion( "NCI:C167216"^^xsd:string) AnnotationAssertion( "ORDO:85293"^^xsd:string) AnnotationAssertion( "CUL4B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "Cabezas X-Linked Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Cabezas syndrome"^^xsd:string) AnnotationAssertion( "Cabezas syndrome; syndromic X-linked mental retardation 15"^^xsd:string) AnnotationAssertion( "MRSS"^^xsd:string) AnnotationAssertion( "MRXS15"^^xsd:string) AnnotationAssertion( "MRXSC"^^xsd:string) AnnotationAssertion( "SYNDROMIC X-LINKED MENTAL RETARDATION, CABEZAS TYPE"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with brachydactyly and macroglossia"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with short stature"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with short stature, hypogonadism, and abnormal gait"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with short stature, small testes, muscle wasting, and tremor"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked, syndromic 15 (Cabezas type)"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Cabezas type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060822"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Cabezas type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 94) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17989220"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19449417"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24721225"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300699"^^xsd:string) AnnotationAssertion( "GRIA3-related disorder"^^xsd:string) AnnotationAssertion( "ICD10CM:F72"^^xsd:string) AnnotationAssertion( "MESH:C567479"^^xsd:string) AnnotationAssertion( "ORDO:364028"^^xsd:string) AnnotationAssertion( "DISRUPTED SLEEP-WAKE CYCLE WITH DEVELOPMENTAL DELAY AND LEARNING DIFFICULTY"^^xsd:string) AnnotationAssertion( "GRIA3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC 29"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE"^^xsd:string) AnnotationAssertion( "MRX94"^^xsd:string) AnnotationAssertion( "MRXS29"^^xsd:string) AnnotationAssertion( "MRXSW"^^xsd:string) AnnotationAssertion( "Wu-type X-linked syndromic intellectual developmental disorder"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 94"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual disability due to GRIA3 anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060823"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 94"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Raymond type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17436253"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19377476"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007880"^^xsd:string) AnnotationAssertion( "MESH:C567586"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.8"^^xsd:string) AnnotationAssertion( "MIM:300799"^^xsd:string) AnnotationAssertion( "ORDO:163953"^^xsd:string) AnnotationAssertion( "MRXSR"^^xsd:string) AnnotationAssertion( "X-linked syndromic intellectual developmental disorder Raymond type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Raymond type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Zdhhc9-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060824"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Raymond type"^^xsd:string) SubClassOf( ) # Class: (Christianson syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18342287"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20949524"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25044251"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537450"^^xsd:string) AnnotationAssertion( "MIM:300243"^^xsd:string) AnnotationAssertion( "GARD:10572"^^xsd:string) AnnotationAssertion( "MESH:C567484"^^xsd:string) AnnotationAssertion( "NCI:C181001"^^xsd:string) AnnotationAssertion( "ORDO:85278"^^xsd:string) AnnotationAssertion( "ANGELMAN SYNDROME-LIKE"^^xsd:string) AnnotationAssertion( "Angelman-Like Syndrome, X-Linked"^^xsd:string) AnnotationAssertion( "MRXSCH"^^xsd:string) AnnotationAssertion( "Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome"^^xsd:string) AnnotationAssertion( "X-linked intellectual deficit, South African type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability, South African type"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Christianson type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Christianson type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060825"^^xsd:string) AnnotationAssertion(rdfs:label "Christianson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Shashi type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10677307"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25256757"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300238"^^xsd:string) AnnotationAssertion( "MESH:C537135"^^xsd:string) AnnotationAssertion( "ORDO:85286"^^xsd:string) AnnotationAssertion( "MRXS11"^^xsd:string) AnnotationAssertion( "MRXSSH"^^xsd:string) AnnotationAssertion( "SMRXS"^^xsd:string) AnnotationAssertion( "Shashi X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Shashi type"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome, Shashi type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual disability type 11"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 11"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 11, Shashi type"^^xsd:string) AnnotationAssertion( "syndromic intellectual developmental disorder 11, Shashi type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060826"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Shashi type"^^xsd:string) SubClassOf( ) # Class: (X-linked intellectual disability-psychosis-macroorchidism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10986043"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8651288"^^xsd:string) "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9006524"^^xsd:string) AnnotationAssertion( "MIM:300055"^^xsd:string) AnnotationAssertion( "ICD10CM:F71.1"^^xsd:string) AnnotationAssertion( "MESH:C563139"^^xsd:string) AnnotationAssertion( "MESH:C564724"^^xsd:string) AnnotationAssertion( "MESH:C566876"^^xsd:string) AnnotationAssertion( "MESH:C566877"^^xsd:string) AnnotationAssertion( "ORDO:3077"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16"^^xsd:string) AnnotationAssertion( "Lindsay-Burn syndrome"^^xsd:string) AnnotationAssertion( "MRX16"^^xsd:string) AnnotationAssertion( "MRX79"^^xsd:string) AnnotationAssertion( "MRXS13"^^xsd:string) AnnotationAssertion( "PPM-X"^^xsd:string) AnnotationAssertion( "PPMX"^^xsd:string) AnnotationAssertion( "Ppm-X Syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 16"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 79"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with spasticity"^^xsd:string) AnnotationAssertion( "mental retardation with psychosis, pyramidal signs, and macroorchidism"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 13"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060827"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked intellectual disability-psychosis-macroorchidism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22814392"^^xsd:string) "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300886"^^xsd:string) AnnotationAssertion( "ORDO:324410"^^xsd:string) AnnotationAssertion( "MRXS32"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 32"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060828"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (deafness-intellectual disability, Martin-Probst type syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11073537"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300519"^^xsd:string) AnnotationAssertion( "MESH:C564495"^^xsd:string) AnnotationAssertion( "ORDO:85321"^^xsd:string) AnnotationAssertion( "MRXSMP"^^xsd:string) AnnotationAssertion( "Martin-Probst Deafness-Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Martin-Probst syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Martin-Probst type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060830"^^xsd:string) AnnotationAssertion(rdfs:label "deafness-intellectual disability, Martin-Probst type syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Griscelli syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/707528"^^xsd:string) "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10913"^^xsd:string) AnnotationAssertion( "MIM:PS214450"^^xsd:string) AnnotationAssertion( "ORDO:381"^^xsd:string) AnnotationAssertion( "Chediak-Higashi-like syndrome"^^xsd:string) AnnotationAssertion( "Chédiak-Higashi-like syndrome"^^xsd:string) AnnotationAssertion( "Griscelli disease"^^xsd:string) AnnotationAssertion( "Griscelli-Prunieras syndrome"^^xsd:string) AnnotationAssertion( "Griscelli-Pruniéras syndrome"^^xsd:string) AnnotationAssertion( "partial albinism-immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060831"^^xsd:string) AnnotationAssertion(rdfs:label "Griscelli syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Griscelli syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9207796"^^xsd:string) "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214450"^^xsd:string) AnnotationAssertion( "GARD:2566"^^xsd:string) AnnotationAssertion( "MESH:C537301"^^xsd:string) AnnotationAssertion( "ORDO:79476"^^xsd:string) AnnotationAssertion( "GS1"^^xsd:string) AnnotationAssertion( "Griscelli syndrome with neurologic impairment"^^xsd:string) AnnotationAssertion( "Griscelli syndrome with neurological impairment"^^xsd:string) AnnotationAssertion( "Griscelli syndrome, cutaneous and neurologic type"^^xsd:string) AnnotationAssertion( "Griscelli syndrome, cutaneous and neurological type"^^xsd:string) AnnotationAssertion( "Griscelli-Prunieras syndrome type 1"^^xsd:string) AnnotationAssertion( "Griscelli-Pruniéras syndrome type 1"^^xsd:string) AnnotationAssertion( "Partial albinism and primary neurologic disease without hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "hypopigmentation-neurologic impairment syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060832"^^xsd:string) AnnotationAssertion(rdfs:label "Griscelli syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (Griscelli syndrome type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12452176"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/707528"^^xsd:string) "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4483"^^xsd:string) AnnotationAssertion( "MESH:C537302"^^xsd:string) AnnotationAssertion( "MIM:607624"^^xsd:string) AnnotationAssertion( "MONDO:0011872"^^xsd:string) AnnotationAssertion( "NCI:C111814"^^xsd:string) AnnotationAssertion( "ORDO:79477"^^xsd:string) AnnotationAssertion( "GS2"^^xsd:string) AnnotationAssertion( "Griscelli syndrome with hemophagocytic syndrome"^^xsd:string) AnnotationAssertion( "Griscelli-Prunieras syndrome type 2"^^xsd:string) AnnotationAssertion( "Griscelli-Pruniéras syndrome type 2"^^xsd:string) AnnotationAssertion( "PAID syndrome"^^xsd:string) AnnotationAssertion( "Partial albinism and immunodeficiency"^^xsd:string) AnnotationAssertion( "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"^^xsd:string) AnnotationAssertion( "partial albinism and immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "partial albinism with immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060833"^^xsd:string) AnnotationAssertion(rdfs:label "Griscelli syndrome type 2"^^xsd:string) SubClassOf( ) # Class: (Griscelli syndrome type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12148598"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12897212"^^xsd:string) "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609227"^^xsd:string) AnnotationAssertion( "GARD:9715"^^xsd:string) AnnotationAssertion( "MESH:C537303"^^xsd:string) AnnotationAssertion( "ORDO:79478"^^xsd:string) AnnotationAssertion( "GS3"^^xsd:string) AnnotationAssertion( "Griscelli-Prunieras syndrome type 3"^^xsd:string) AnnotationAssertion( "Griscelli-Pruniéras syndrome type 3"^^xsd:string) AnnotationAssertion( "Hypomelanosis with no immunologic or neurologic manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060834"^^xsd:string) AnnotationAssertion(rdfs:label "Griscelli syndrome type 3"^^xsd:string) SubClassOf( ) # Class: (isolated microphthalmia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15823920"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21397065"^^xsd:string) "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613517"^^xsd:string) AnnotationAssertion( "ORDO:2542"^^xsd:string) AnnotationAssertion( "MCOP6"^^xsd:string) AnnotationAssertion( "posterior nonsyndromic microphthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060835"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19129173"^^xsd:string) "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613094"^^xsd:string) AnnotationAssertion( "MESH:C567757"^^xsd:string) AnnotationAssertion( "MCOP4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060836"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17167404"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18554571"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19753314"^^xsd:string) "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611040"^^xsd:string) AnnotationAssertion( "ICD10CM:Q15.8"^^xsd:string) AnnotationAssertion( "MESH:C567024"^^xsd:string) AnnotationAssertion( "ORDO:251279"^^xsd:string) AnnotationAssertion( "MCOP5"^^xsd:string) AnnotationAssertion( "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"^^xsd:string) AnnotationAssertion( "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060837"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19864492"^^xsd:string) "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q11.0"^^xsd:string) AnnotationAssertion( "MIM:613704"^^xsd:string) AnnotationAssertion( "MCOP7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060838"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15257456"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3378363"^^xsd:string) "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610093"^^xsd:string) AnnotationAssertion( "VSX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566446"^^xsd:string) AnnotationAssertion( "MCOP2"^^xsd:string) AnnotationAssertion( "isolated clinical anophthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060839"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9545413"^^xsd:string) "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251600"^^xsd:string) AnnotationAssertion( "MESH:C565377"^^xsd:string) AnnotationAssertion( "MCOP"^^xsd:string) AnnotationAssertion( "MCOP1"^^xsd:string) AnnotationAssertion( "autosomal recessive microphthalmos"^^xsd:string) AnnotationAssertion( "isolated clinical anophthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060840"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23312594"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23591992"^^xsd:string) "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615113"^^xsd:string) AnnotationAssertion( "MCOP8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060841"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated microphthalmia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14662654"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18783408"^^xsd:string) "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611038"^^xsd:string) AnnotationAssertion( "MESH:C567025"^^xsd:string) AnnotationAssertion( "MCOP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060842"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary neuropathy with liability to pressure palsies) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12682341"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2540008"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8422677"^^xsd:string) "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5221"^^xsd:string) AnnotationAssertion( "MESH:C536965"^^xsd:string) AnnotationAssertion( "MIM:162500"^^xsd:string) AnnotationAssertion( "MONDO:0008087"^^xsd:string) AnnotationAssertion( "ORDO:640"^^xsd:string) AnnotationAssertion( "HNPP"^^xsd:string) AnnotationAssertion( "compression neuropathy"^^xsd:string) AnnotationAssertion( "current pressure-sensitive neuropathy"^^xsd:string) AnnotationAssertion( "familial pressure sensitive neuropathy"^^xsd:string) AnnotationAssertion( "familial recurrent polyneuropathy"^^xsd:string) AnnotationAssertion( "hereditary liability to pressure palsies"^^xsd:string) AnnotationAssertion( "hereditary neuropathy with liability to pressure palsy"^^xsd:string) AnnotationAssertion( "hereditary pressure sensitive neuropathy"^^xsd:string) AnnotationAssertion( "heterozygous microdeletion 17p11.2p12"^^xsd:string) AnnotationAssertion( "inherited tendency to pressure palsies"^^xsd:string) AnnotationAssertion( "potato-grubbing palsy"^^xsd:string) AnnotationAssertion( "tomaculous neuropathy"^^xsd:string) AnnotationAssertion( "tulip-bulb digger's palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060843"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary neuropathy with liability to pressure palsies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Norrie disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1303235"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13998843"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7627181"^^xsd:string) "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7224"^^xsd:string) AnnotationAssertion( "MESH:C537849"^^xsd:string) AnnotationAssertion( "MIM:310600"^^xsd:string) AnnotationAssertion( "MONDO:0010691"^^xsd:string) AnnotationAssertion( "NCI:C118634"^^xsd:string) AnnotationAssertion( "ORDO:649"^^xsd:string) AnnotationAssertion( "Anderson-Warburg syndrome"^^xsd:string) AnnotationAssertion( "Congenital Progressive Oculo-Acoustico-Cerebral Degeneration"^^xsd:string) AnnotationAssertion( "Episkopi blindness"^^xsd:string) AnnotationAssertion( "Fetal Iritis Syndrome"^^xsd:string) AnnotationAssertion( "ND"^^xsd:string) AnnotationAssertion( "Norrie syndrome"^^xsd:string) AnnotationAssertion( "Norrie's disease"^^xsd:string) AnnotationAssertion( "Norrie-Warburg disease"^^xsd:string) AnnotationAssertion( "Norrie-Warburg syndrome"^^xsd:string) AnnotationAssertion( "Oligophrenia Microphthalmus"^^xsd:string) AnnotationAssertion( "Whitnall-Norman syndrome"^^xsd:string) AnnotationAssertion( "atrophia bulborum hereditaria"^^xsd:string) AnnotationAssertion( "pseudoglioma"^^xsd:string) AnnotationAssertion( "pseudoglioma congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060844"^^xsd:string) AnnotationAssertion(rdfs:label "Norrie disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leri-Weill dyschondrosteosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10713888"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21712857"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590292"^^xsd:string) "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:127300"^^xsd:string) AnnotationAssertion( "GARD:3224"^^xsd:string) AnnotationAssertion( "MESH:C537119"^^xsd:string) AnnotationAssertion( "NCI:C126560"^^xsd:string) AnnotationAssertion( "ORDO:240"^^xsd:string) AnnotationAssertion( "LWD"^^xsd:string) AnnotationAssertion( "Leri-Weil syndrome"^^xsd:string) AnnotationAssertion( "Léri-Weill dyschondrosteosis"^^xsd:string) AnnotationAssertion( "DCO MADELUNG DEFORMITY"^^xsd:string) AnnotationAssertion( "DYSCHONDROSTEOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060847"^^xsd:string) AnnotationAssertion(rdfs:label "Leri-Weill dyschondrosteosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20830798/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18469813"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19752159"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300088"^^xsd:string) AnnotationAssertion( "GARD:10806"^^xsd:string) AnnotationAssertion( "MESH:C564715"^^xsd:string) AnnotationAssertion( "NCI:C201590"^^xsd:string) AnnotationAssertion( "ORDO:101039"^^xsd:string) AnnotationAssertion( "DEE9"^^xsd:string) AnnotationAssertion( "EFMR"^^xsd:string) AnnotationAssertion( "EIEE9"^^xsd:string) AnnotationAssertion( "Juberg-Hellman syndrome"^^xsd:string) AnnotationAssertion( "convulsive disorder and mental retardation"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 9"^^xsd:string) AnnotationAssertion( "early infantile female-limited epilecptic encephalopathy"^^xsd:string) AnnotationAssertion( "female-restricted epilepsy with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060848"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteoporosis-pseudoglioma syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11719191"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20034086"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3955877"^^xsd:string) "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259770"^^xsd:string) AnnotationAssertion( "GARD:4160"^^xsd:string) AnnotationAssertion( "MESH:C536063"^^xsd:string) AnnotationAssertion( "NCI:C130998"^^xsd:string) AnnotationAssertion( "ORDO:2788"^^xsd:string) AnnotationAssertion( "OPPG"^^xsd:string) AnnotationAssertion( "OPS"^^xsd:string) AnnotationAssertion( "ocular form of osteogenesis imperfecta"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, ocular form"^^xsd:string) AnnotationAssertion( "osteoporosis with pseudoglioma"^^xsd:string) AnnotationAssertion( "pseudoglioma with bone fragility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060849"^^xsd:string) AnnotationAssertion(rdfs:label "osteoporosis-pseudoglioma syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (annular pancreas) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1860255"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/677171"^^xsd:string) "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:167750"^^xsd:string) AnnotationAssertion( "RDO:0001939"^^xsd:string) AnnotationAssertion( "GARD:705"^^xsd:string) AnnotationAssertion( "ICD10CM:Q45.1"^^xsd:string) AnnotationAssertion( "MESH:C536376"^^xsd:string) AnnotationAssertion( "NCI:C98813"^^xsd:string) AnnotationAssertion( "ORDO:675"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060850"^^xsd:string) AnnotationAssertion(rdfs:label "annular pancreas"^^xsd:string) SubClassOf( ) # Class: (pemphigus vulgaris) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2217197"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4577497"^^xsd:string) "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169610"^^xsd:string) AnnotationAssertion( "EFO:0004719"^^xsd:string) AnnotationAssertion( "GARD:7355"^^xsd:string) AnnotationAssertion( "ICD10CM:L10.0"^^xsd:string) AnnotationAssertion( "MESH:C536645"^^xsd:string) AnnotationAssertion( "NCI:C34910"^^xsd:string) AnnotationAssertion( "ORDO:704"^^xsd:string) AnnotationAssertion( "familial pemphigus vulgaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060851"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus vulgaris"^^xsd:string) SubClassOf( ) # Class: (Pierson syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15367484"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15372515"^^xsd:string) "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609049"^^xsd:string) AnnotationAssertion( "GARD:9420"^^xsd:string) AnnotationAssertion( "MESH:C537185"^^xsd:string) AnnotationAssertion( "NCI:C128145"^^xsd:string) AnnotationAssertion( "ORDO:2670"^^xsd:string) AnnotationAssertion( "congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome"^^xsd:string) AnnotationAssertion( "microcoria and congenital nephrotic syndrome"^^xsd:string) AnnotationAssertion( "microcoria-congenital nephrosis syndrome"^^xsd:string) AnnotationAssertion( "microcoria-congenital nephrotic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060852"^^xsd:string) AnnotationAssertion(rdfs:label "Pierson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Potocki-Lupski syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10615134"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20425816"^^xsd:string) "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10145"^^xsd:string) AnnotationAssertion( "MESH:C538355"^^xsd:string) AnnotationAssertion( "MIM:610883"^^xsd:string) AnnotationAssertion( "MONDO:0012574"^^xsd:string) AnnotationAssertion( "NCI:C124846"^^xsd:string) AnnotationAssertion( "ORDO:1713"^^xsd:string) AnnotationAssertion( "17p11.2 microduplication syndrome"^^xsd:string) AnnotationAssertion( "PTLS"^^xsd:string) AnnotationAssertion( "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))"^^xsd:string) AnnotationAssertion( "chromosome 17, trisomy 17p11 2"^^xsd:string) AnnotationAssertion( "chromosome 17p11.2 duplication syndrome"^^xsd:string) AnnotationAssertion( "duplication 17p11 2"^^xsd:string) AnnotationAssertion( "duplication 17p11.2 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 17p11.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060853"^^xsd:string) AnnotationAssertion(rdfs:label "Potocki-Lupski syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive pseudohypoaldosteronism type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10202170"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10404817"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8589714"^^xsd:string) "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:4552"^^xsd:string) AnnotationAssertion( "NCI:C123251"^^xsd:string) AnnotationAssertion( "ORDO:171876"^^xsd:string) AnnotationAssertion( "ORDO:756"^^xsd:string) AnnotationAssertion( "PHA1B"^^xsd:string) AnnotationAssertion( "autosomal recessive PHA 1"^^xsd:string) AnnotationAssertion( "autosomal recessive pseudohypoaldosteronism type I"^^xsd:string) AnnotationAssertion( "recessive pseudohypoaldosteronism type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060854"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive pseudohypoaldosteronism type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant pseudohypoaldosteronism type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9662404"^^xsd:string) "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003076"^^xsd:string) AnnotationAssertion( "GARD:9145"^^xsd:string) AnnotationAssertion( "MIM:177735"^^xsd:string) AnnotationAssertion( "PHA1A"^^xsd:string) AnnotationAssertion( "autosomal dominant PHA 1"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism, type I, autosomal dominant"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism, type I, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060855"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant pseudohypoaldosteronism type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (right atrial isomerism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14648004"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20413652"^^xsd:string) "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6795"^^xsd:string) AnnotationAssertion( "ICD10CM:Q20.6"^^xsd:string) AnnotationAssertion( "ORDO:97548"^^xsd:string) AnnotationAssertion( "Ivemark syndrome"^^xsd:string) AnnotationAssertion( "right atrial isomerism with asplenia"^^xsd:string) AnnotationAssertion( "right atrial isomerisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "asplenia with cardiovascular anomalies"^^xsd:string) AnnotationAssertion( "DOID:0060856"^^xsd:string) AnnotationAssertion(rdfs:label "right atrial isomerism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (septooptic dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8696006"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9620767"^^xsd:string) "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182230"^^xsd:string) AnnotationAssertion( "GARD:7627"^^xsd:string) AnnotationAssertion( "MESH:D025962"^^xsd:string) AnnotationAssertion( "NCI:C85063"^^xsd:string) AnnotationAssertion( "ORDO:3157"^^xsd:string) AnnotationAssertion( "De Morsier syndrome"^^xsd:string) AnnotationAssertion( "SOD"^^xsd:string) AnnotationAssertion( "septo optic dysplasia with growth hormone deficiency"^^xsd:string) AnnotationAssertion( "septo-optic dysplasia"^^xsd:string) AnnotationAssertion( "septo-optic dysplasia sequence"^^xsd:string) AnnotationAssertion( "septooptic dysplasias"^^xsd:string) AnnotationAssertion( "septooptic dysplasia, mild"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060857"^^xsd:string) AnnotationAssertion(rdfs:label "septooptic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypotonia-cystinuria syndrome) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11524703"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16385448"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18234729"^^xsd:string) "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606407"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.0"^^xsd:string) AnnotationAssertion( "MESH:C564710"^^xsd:string) AnnotationAssertion( "ORDO:163690"^^xsd:string) AnnotationAssertion( "cystinuria with mitochondrial disease"^^xsd:string) AnnotationAssertion( "HOMOZYGOUS 2p16 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "HOMOZYGOUS 2p21 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060858"^^xsd:string) AnnotationAssertion(rdfs:label "hypotonia-cystinuria syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (salmonellosis) AnnotationAssertion(Annotation( "https://www.cdc.gov/salmonella/general/index.html"^^xsd:string) Annotation( "https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella"^^xsd:string) "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001418"^^xsd:string) AnnotationAssertion( "ICD10CM:A02.0"^^xsd:string) AnnotationAssertion( "ICD9CM:003.0"^^xsd:string) AnnotationAssertion( "MESH:D012480"^^xsd:string) AnnotationAssertion( "salmonella infection"^^xsd:string) AnnotationAssertion( "salmonella infections"^^xsd:string) AnnotationAssertion( "salmonelloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060859"^^xsd:string) AnnotationAssertion(rdfs:label "salmonellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microphthalmia with limb anomalies) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21194678"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6846395"^^xsd:string) "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:206920"^^xsd:string) AnnotationAssertion( "MESH:C537769"^^xsd:string) AnnotationAssertion( "ORDO:1106"^^xsd:string) AnnotationAssertion( "Anophthalmos-syndactyly"^^xsd:string) AnnotationAssertion( "MLA"^^xsd:string) AnnotationAssertion( "OAS"^^xsd:string) AnnotationAssertion( "anophthalmia Waardenburg syndrome"^^xsd:string) AnnotationAssertion( "anophthalmia-syndactyly"^^xsd:string) AnnotationAssertion( "anophthalmia-syndactyly syndrome"^^xsd:string) AnnotationAssertion( "anophthalmos with limb anomalies"^^xsd:string) AnnotationAssertion( "ophthalmoacromelic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060861"^^xsd:string) AnnotationAssertion(rdfs:label "microphthalmia with limb anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mal de Meleda) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11285253"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9887370"^^xsd:string) "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.8"^^xsd:string) AnnotationAssertion( "MIM:248300"^^xsd:string) AnnotationAssertion( "MONDO:0009552"^^xsd:string) AnnotationAssertion( "ORDO:87503"^^xsd:string) AnnotationAssertion( "MDM"^^xsd:string) AnnotationAssertion( "Meleda disease"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris transgrediens of Siemens"^^xsd:string) AnnotationAssertion( "transgrediens palmoplantar keratoderma of Siemens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060862"^^xsd:string) AnnotationAssertion(rdfs:label "mal de Meleda"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (patterned macular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22466463"^^xsd:string) "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0001837"^^xsd:string) AnnotationAssertion( "MESH:C536309"^^xsd:string) AnnotationAssertion( "MIM:PS169150"^^xsd:string) AnnotationAssertion( "ORDO:99001"^^xsd:string) AnnotationAssertion( "butterfly dystrophy of retinal pigment epithelium"^^xsd:string) AnnotationAssertion( "butterfly-shaped pigment dystrophy of the fovea"^^xsd:string) AnnotationAssertion( "butterfly-shaped pigmentary macular dystrophy"^^xsd:string) AnnotationAssertion( "patterned dystrophy of retinal pigment epithelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060863"^^xsd:string) AnnotationAssertion(rdfs:label "patterned macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (patterned macular dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12724643"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26691986"^^xsd:string) "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004328"^^xsd:string) AnnotationAssertion( "MIM:608970"^^xsd:string) AnnotationAssertion( "MDPT2"^^xsd:string) AnnotationAssertion( "butterfly-shaped pigmentary macular dystrophy 2"^^xsd:string) AnnotationAssertion( "butterfly-shaped pigmentary maculary dystrophy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060864"^^xsd:string) AnnotationAssertion(rdfs:label "patterned macular dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (patterned macular dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26744326"^^xsd:string) "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617111"^^xsd:string) AnnotationAssertion( "MAPKAPK3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY"^^xsd:string) AnnotationAssertion( "MDPT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060865"^^xsd:string) AnnotationAssertion(rdfs:label "patterned macular dystrophy 3"^^xsd:string) SubClassOf( ) # Class: (patterned macular dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8251014"^^xsd:string) "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004327"^^xsd:string) AnnotationAssertion( "MIM:169150"^^xsd:string) AnnotationAssertion( "MDPT1"^^xsd:string) AnnotationAssertion( "butterfly-shaped pigmentary maculary dystrophy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060866"^^xsd:string) AnnotationAssertion(rdfs:label "patterned macular dystrophy 1"^^xsd:string) SubClassOf( ) # Class: (macrocephaly-autism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15805158"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1719811"^^xsd:string) "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605309"^^xsd:string) AnnotationAssertion( "MESH:C565342"^^xsd:string) AnnotationAssertion( "ORDO:210548"^^xsd:string) AnnotationAssertion( "autism spectrum disorder (ASD) with macrocephaly"^^xsd:string) AnnotationAssertion( "autism spectrum disorder and macrocephaly"^^xsd:string) AnnotationAssertion( "macrocephaly-intellectual disability-autism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060867"^^xsd:string) AnnotationAssertion(rdfs:label "macrocephaly-autism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11835386/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/15136673/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11704758"^^xsd:string) "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:231"^^xsd:string) AnnotationAssertion( "MESH:C565836"^^xsd:string) AnnotationAssertion( "MIM:PS603896"^^xsd:string) AnnotationAssertion( "NCI:C122664"^^xsd:string) AnnotationAssertion( "ORDO:135"^^xsd:string) AnnotationAssertion( "ORDO:157713"^^xsd:string) AnnotationAssertion( "ORDO:157716"^^xsd:string) AnnotationAssertion( "ORDO:157719"^^xsd:string) AnnotationAssertion( "CACH"^^xsd:string) AnnotationAssertion( "CACH/VWM"^^xsd:string) AnnotationAssertion( "VWM"^^xsd:string) AnnotationAssertion( "childhood ataxia with central nervous system hypomyelination"^^xsd:string) AnnotationAssertion( "childhood ataxia with central nervous system hypomyelinization"^^xsd:string) AnnotationAssertion( "vanishing white matter leukodystrophy"^^xsd:string) AnnotationAssertion( "vanishing white matter leukodystrophy with ovarian failure"^^xsd:string) AnnotationAssertion( "ovarioleukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060868"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (late-onset retinal degeneration) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12944416"^^xsd:string) "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605670"^^xsd:string) AnnotationAssertion( "GARD:4357"^^xsd:string) AnnotationAssertion( "MESH:C565309"^^xsd:string) AnnotationAssertion( "NCI:C202070"^^xsd:string) AnnotationAssertion( "ORDO:67042"^^xsd:string) AnnotationAssertion( "LORD"^^xsd:string) AnnotationAssertion( "late-onset retinal degeneration, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060869"^^xsd:string) AnnotationAssertion(rdfs:label "late-onset retinal degeneration"^^xsd:string) SubClassOf( ) # Class: (isolated growth hormone deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string) "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000307"^^xsd:string) AnnotationAssertion( "GROWTH HORMONE DEFICIENCY"^^xsd:string) AnnotationAssertion( "EFO:1001109"^^xsd:string) AnnotationAssertion( "GARD:12556"^^xsd:string) AnnotationAssertion( "ICD9CM:253.3"^^xsd:string) AnnotationAssertion( "MESH:D004393"^^xsd:string) AnnotationAssertion( "MIM:PS262400"^^xsd:string) AnnotationAssertion( "NCI:C34555"^^xsd:string) AnnotationAssertion( "ORDO:631"^^xsd:string) AnnotationAssertion( "Growth Hormone Deficiency Dwarfism"^^xsd:string) AnnotationAssertion( "Hypophysial Dwarf"^^xsd:string) AnnotationAssertion( "Hyposomatotrophic Dwarfism"^^xsd:string) AnnotationAssertion( "IGHD"^^xsd:string) AnnotationAssertion( "Isolated GH Deficiency"^^xsd:string) AnnotationAssertion( "Isolated HGH Deficiency"^^xsd:string) AnnotationAssertion( "Isolated Human Growth Hormone Deficiency"^^xsd:string) AnnotationAssertion( "Isolated Somatotropin Deficiency"^^xsd:string) AnnotationAssertion( "Isolated Somatotropin Deficiency Disorder"^^xsd:string) AnnotationAssertion( "Pituitary Dwarf"^^xsd:string) AnnotationAssertion( "congenital IGHD"^^xsd:string) AnnotationAssertion( "congenital isolated GH deficiency"^^xsd:string) AnnotationAssertion( "congenital isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "familial isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "non-acquired isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "pituitary dwarfism"^^xsd:string) AnnotationAssertion( "pituitary nanism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060870"^^xsd:string) AnnotationAssertion(rdfs:label "isolated growth hormone deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant keratitis-ichthyosis-deafness syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11912510"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11918723"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3579358"^^xsd:string) "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148210"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.8"^^xsd:string) AnnotationAssertion( "MESH:C536168"^^xsd:string) AnnotationAssertion( "ORDO:477"^^xsd:string) AnnotationAssertion( "KID syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant KID syndrome"^^xsd:string) AnnotationAssertion( "keratitis, ichthyosis, and deafness (KID) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060871"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant keratitis-ichthyosis-deafness syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated growth hormone deficiency type II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15671105"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string) "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:173100"^^xsd:string) AnnotationAssertion( "MESH:C562704"^^xsd:string) AnnotationAssertion( "ORDO:231679"^^xsd:string) AnnotationAssertion( "IGHD II"^^xsd:string) AnnotationAssertion( "IGHD2"^^xsd:string) AnnotationAssertion( "Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "congenital IGHD type II"^^xsd:string) AnnotationAssertion( "congenital isolated GH deficiency type II"^^xsd:string) AnnotationAssertion( "congenital isolated growth hormone deficiency type II"^^xsd:string) AnnotationAssertion( "isolated growth hormone deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060872"^^xsd:string) AnnotationAssertion(rdfs:label "isolated growth hormone deficiency type II"^^xsd:string) SubClassOf( ) # Class: (isolated growth hormone deficiency type IA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16060904"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string) "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262400"^^xsd:string) AnnotationAssertion( "MESH:C537404"^^xsd:string) AnnotationAssertion( "ORDO:231662"^^xsd:string) AnnotationAssertion( "IGHD IA"^^xsd:string) AnnotationAssertion( "IGHD1A"^^xsd:string) AnnotationAssertion( "ILLIG-TYPE GROWTH HORMONE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Isolated growth hormone deficiency, type 1b"^^xsd:string) AnnotationAssertion( "Nanism due to growth hormone isolated deficiency"^^xsd:string) AnnotationAssertion( "PRIMORDIAL DWARFISM"^^xsd:string) AnnotationAssertion( "Pituitary Dwarfism 1"^^xsd:string) AnnotationAssertion( "Pituitary Dwarfism I"^^xsd:string) AnnotationAssertion( "Sexual ateleiotic dwarfism"^^xsd:string) AnnotationAssertion( "isolated growth hormone deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060873"^^xsd:string) AnnotationAssertion(rdfs:label "isolated growth hormone deficiency type IA"^^xsd:string) SubClassOf( ) # Class: (isolated growth hormone deficiency type IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10678654"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8528260"^^xsd:string) "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612781"^^xsd:string) AnnotationAssertion( "MIM:618157"^^xsd:string) AnnotationAssertion( "MESH:C567564"^^xsd:string) AnnotationAssertion( "ORDO:231671"^^xsd:string) AnnotationAssertion( "IGHD IB"^^xsd:string) AnnotationAssertion( "IGHD1B"^^xsd:string) AnnotationAssertion( "congenital IGHD type IB"^^xsd:string) AnnotationAssertion( "congenital isolated GH deficiency type IB"^^xsd:string) AnnotationAssertion( "congenital isolated growth hormone deficiency type IB"^^xsd:string) AnnotationAssertion( "dwarfism of Sindh"^^xsd:string) AnnotationAssertion( "idiopathic growth hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060874"^^xsd:string) AnnotationAssertion(rdfs:label "isolated growth hormone deficiency type IB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated growth hormone deficiency type III) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8013627"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8288694"^^xsd:string) "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:307200"^^xsd:string) AnnotationAssertion( "RDO:0002930"^^xsd:string) AnnotationAssertion( "GARD:3921"^^xsd:string) AnnotationAssertion( "MESH:C537149"^^xsd:string) AnnotationAssertion( "ORDO:231692"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia and isolated growth hormone deficiency, X-linked"^^xsd:string) AnnotationAssertion( "Fleisher syndrome"^^xsd:string) AnnotationAssertion( "Growth Hormone Deficiency with Hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked"^^xsd:string) AnnotationAssertion( "IGHD III"^^xsd:string) AnnotationAssertion( "IGHD3"^^xsd:string) AnnotationAssertion( "Isolated growth hormone deficiency, type 3"^^xsd:string) AnnotationAssertion( "Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY"^^xsd:string) AnnotationAssertion( "X-linked IGHD"^^xsd:string) AnnotationAssertion( "X-linked isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "congenital IGHD type III"^^xsd:string) AnnotationAssertion( "congenital isolated GH deficiency type III"^^xsd:string) AnnotationAssertion( "congenital isolated growth hormone deficiency type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060875"^^xsd:string) AnnotationAssertion(rdfs:label "isolated growth hormone deficiency type III"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bullous congenital ichthyosiform erythroderma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4247927"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7524919"^^xsd:string) "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146800"^^xsd:string) AnnotationAssertion( "GARD:2966"^^xsd:string) AnnotationAssertion( "MESH:D053560"^^xsd:string) AnnotationAssertion( "NCI:C84777"^^xsd:string) AnnotationAssertion( "ORDO:455"^^xsd:string) AnnotationAssertion( "IBS"^^xsd:string) AnnotationAssertion( "KRT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Siemens ichthyosis bullosa"^^xsd:string) AnnotationAssertion( "bullous type ichthyoses"^^xsd:string) AnnotationAssertion( "bullous type ichthyosis"^^xsd:string) AnnotationAssertion( "bullous type ichthyosis of Siemens"^^xsd:string) AnnotationAssertion( "bullous type of ichthyosis"^^xsd:string) AnnotationAssertion( "ichthyosis bullosa of Siemens"^^xsd:string) AnnotationAssertion( "superficial epidermolytic ichthyosis"^^xsd:string) AnnotationAssertion( "ichthyosis exfoliativa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060877"^^xsd:string) AnnotationAssertion(rdfs:label "bullous congenital ichthyosiform erythroderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoparathyroidism-deafness-renal disease syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10935639"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/874665"^^xsd:string) "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146255"^^xsd:string) AnnotationAssertion( "MESH:C537907"^^xsd:string) AnnotationAssertion( "NCI:C130983"^^xsd:string) AnnotationAssertion( "ORDO:2237"^^xsd:string) AnnotationAssertion( "Barakat syndrome"^^xsd:string) AnnotationAssertion( "GATA3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HDR"^^xsd:string) AnnotationAssertion( "HDR syndrome"^^xsd:string) AnnotationAssertion( "HDRS"^^xsd:string) AnnotationAssertion( "hypoparathyroidism, sensorineural deafness, and renal disease"^^xsd:string) AnnotationAssertion( "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "nephrosis, nerve deafness, and hypoparathyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060878"^^xsd:string) AnnotationAssertion(rdfs:label "hypoparathyroidism-deafness-renal disease syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary hypomagnesemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18818955"^^xsd:string) "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537153"^^xsd:string) AnnotationAssertion( "hypomagnesemia"^^xsd:string) AnnotationAssertion( "EFO:1001029"^^xsd:string) AnnotationAssertion( "MESH:D008275"^^xsd:string) AnnotationAssertion( "MIM:PS602014"^^xsd:string) AnnotationAssertion( "ORDO:34526"^^xsd:string) AnnotationAssertion( "HOMG"^^xsd:string) AnnotationAssertion( "familial hypomagnesemia with hypercalciuria and nephrocalcinosis"^^xsd:string) AnnotationAssertion( "magnesium deficiencies"^^xsd:string) AnnotationAssertion( "magnesium deficiency"^^xsd:string) AnnotationAssertion( "primary familial hypomagnesemia"^^xsd:string) AnnotationAssertion( "HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING"^^xsd:string) AnnotationAssertion( "defect in renal tubular transport of magnesium"^^xsd:string) AnnotationAssertion( "isolated renal hypomagnesemia"^^xsd:string) AnnotationAssertion( "primary hypomagnesemia due to defect in renal tubular transport of magnesium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060879"^^xsd:string) AnnotationAssertion(rdfs:label "primary hypomagnesemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal hypomagnesemia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10390358"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16501001"^^xsd:string) "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2906"^^xsd:string) AnnotationAssertion( "MIM:248250"^^xsd:string) AnnotationAssertion( "MONDO:0009550"^^xsd:string) AnnotationAssertion( "ORDO:31043"^^xsd:string) AnnotationAssertion( "FHHNC without severe ocular involvement"^^xsd:string) AnnotationAssertion( "HOMG3"^^xsd:string) AnnotationAssertion( "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"^^xsd:string) AnnotationAssertion( "primary hypomagnesemia due to defect in renal tubular transport of magnesium"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia, recessive"^^xsd:string) AnnotationAssertion( "DOID:0060880"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 3"^^xsd:string) SubClassOf( ) # Class: (renal hypomagnesemia 5 with ocular involvement) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17033971"^^xsd:string) "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536148"^^xsd:string) AnnotationAssertion( "MESH:C565423"^^xsd:string) AnnotationAssertion( "MIM:248190"^^xsd:string) AnnotationAssertion( "MONDO:0009548"^^xsd:string) AnnotationAssertion( "ORDO:2196"^^xsd:string) AnnotationAssertion( "FHHNC with severe ocular involvement"^^xsd:string) AnnotationAssertion( "HOMG5"^^xsd:string) AnnotationAssertion( "Idiopathic hypercalciuria with bilateral macular colobomata"^^xsd:string) AnnotationAssertion( "Meier-Blumberg-Imahorn syndrome"^^xsd:string) AnnotationAssertion( "bilateral macular coloboma with hypercalciuria"^^xsd:string) AnnotationAssertion( "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement"^^xsd:string) AnnotationAssertion( "hypercalciuria-bilateral macular coloboma syndrome"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia with ocular involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia, recessive"^^xsd:string) AnnotationAssertion( "DOID:0060881"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 5 with ocular involvement"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal hypomagnesemia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12584272"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17671655"^^xsd:string) "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567127"^^xsd:string) AnnotationAssertion( "MIM:611718"^^xsd:string) AnnotationAssertion( "MONDO:0012717"^^xsd:string) AnnotationAssertion( "ORDO:34527"^^xsd:string) AnnotationAssertion( "HOMG4"^^xsd:string) AnnotationAssertion( "normocalciuric renal hypomagnesemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia, recessive"^^xsd:string) AnnotationAssertion( "DOID:0060882"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestinal hypomagnesemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032568"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032570"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18818955"^^xsd:string) "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566593"^^xsd:string) AnnotationAssertion( "MIM:602014"^^xsd:string) AnnotationAssertion( "MONDO:0011176"^^xsd:string) AnnotationAssertion( "ORDO:30924"^^xsd:string) AnnotationAssertion( "HOMG1"^^xsd:string) AnnotationAssertion( "HSH"^^xsd:string) AnnotationAssertion( "HYPOMAGNESEMIC TETANY"^^xsd:string) AnnotationAssertion( "Hypomagnesemia with Secondary Hypocalcemia"^^xsd:string) AnnotationAssertion( "hypomagnesemia caused by selective magnesium malabsorption"^^xsd:string) AnnotationAssertion( "hypomagnesemia intestinal type 1"^^xsd:string) AnnotationAssertion( "intestinal hypomagnesemia with secondary hypocalcemia"^^xsd:string) AnnotationAssertion( "primary hypomagnesemia with secondary hypocalcemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060883"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal hypomagnesemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal hypomagnesemia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21397062"^^xsd:string) "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia, dominant"^^xsd:string) AnnotationAssertion( "GARD:12155"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.4"^^xsd:string) AnnotationAssertion( "MIM:613882"^^xsd:string) AnnotationAssertion( "MONDO:0013480"^^xsd:string) AnnotationAssertion( "HOMG6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060884"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal hypomagnesemia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11062458"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3298795"^^xsd:string) "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:154020"^^xsd:string) AnnotationAssertion( "renal hypomagnesemia, dominant"^^xsd:string) AnnotationAssertion( "GARD:3350"^^xsd:string) AnnotationAssertion( "MESH:C537152"^^xsd:string) AnnotationAssertion( "ORDO:34528"^^xsd:string) AnnotationAssertion( "HOMG2"^^xsd:string) AnnotationAssertion( "autosomal dominant primary hypomagnesemia with hypocalciuria"^^xsd:string) AnnotationAssertion( "magnesium loss, isolated renal"^^xsd:string) AnnotationAssertion( "magnesium wasting, renal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060885"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteopathia striata with cranial sclerosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19079258"^^xsd:string) "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300373"^^xsd:string) AnnotationAssertion( "MESH:C536053"^^xsd:string) AnnotationAssertion( "ORDO:2780"^^xsd:string) AnnotationAssertion( "AMER1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OSCS"^^xsd:string) AnnotationAssertion( "Robinow-Unger syndrome"^^xsd:string) AnnotationAssertion( "hyperostosis generalisata with striations"^^xsd:string) AnnotationAssertion( "osteopathia striata cranial sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060886"^^xsd:string) AnnotationAssertion(rdfs:label "osteopathia striata with cranial sclerosis"^^xsd:string) SubClassOf( ) # Class: (ossification of the posterior longitudinal ligament of spine) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27374772"^^xsd:string) "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602475"^^xsd:string) AnnotationAssertion( "EFO:0005895"^^xsd:string) AnnotationAssertion( "GARD:9699"^^xsd:string) AnnotationAssertion( "MESH:C537143"^^xsd:string) AnnotationAssertion( "OPLL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060887"^^xsd:string) AnnotationAssertion(rdfs:label "ossification of the posterior longitudinal ligament of spine"^^xsd:string) SubClassOf( ) # Class: (transient myeloproliferative syndrome) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6229618"^^xsd:string) "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:159595"^^xsd:string) AnnotationAssertion( "GARD:12765"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.7"^^xsd:string) AnnotationAssertion( "MESH:C563551"^^xsd:string) AnnotationAssertion( "MESH:C566024"^^xsd:string) AnnotationAssertion( "ORDO:420611"^^xsd:string) AnnotationAssertion( "MST"^^xsd:string) AnnotationAssertion( "TAM"^^xsd:string) AnnotationAssertion( "transient abnormal myelopoiesis"^^xsd:string) AnnotationAssertion( "transient leukemia"^^xsd:string) AnnotationAssertion( "transient leukemia of Down syndrome"^^xsd:string) AnnotationAssertion( "transient myeloproliferative disease"^^xsd:string) AnnotationAssertion( "transient myeloproliferative disorder of Down syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060888"^^xsd:string) AnnotationAssertion(rdfs:label "transient myeloproliferative syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prune belly syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Prune_belly_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15912376"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22077972"^^xsd:string) "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "MIM:100100"^^xsd:string) AnnotationAssertion( "GARD:7479"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.4"^^xsd:string) AnnotationAssertion( "MESH:D011535"^^xsd:string) AnnotationAssertion( "NCI:C85033"^^xsd:string) AnnotationAssertion( "ORDO:2970"^^xsd:string) AnnotationAssertion( "EGBRS"^^xsd:string) AnnotationAssertion( "Eagle Barrett syndrome"^^xsd:string) AnnotationAssertion( "Eagle-Barret syndrome"^^xsd:string) AnnotationAssertion( "Obrinsky syndrome"^^xsd:string) AnnotationAssertion( "Obrisnksy syndrome"^^xsd:string) AnnotationAssertion( "PBS"^^xsd:string) AnnotationAssertion( "abdominal muscle deficiency syndrome"^^xsd:string) AnnotationAssertion( "absence of abdominal muscles with urinary tract abnormality and cryptorchidism"^^xsd:string) AnnotationAssertion( "congenital absence of the abdominal muscles"^^xsd:string) AnnotationAssertion( "prune belly syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060889"^^xsd:string) AnnotationAssertion(rdfs:label "prune belly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectopic Cushing syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27387249"^^xsd:string) "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E24.3"^^xsd:string) AnnotationAssertion( "ORDO:99889"^^xsd:string) AnnotationAssertion( "RDO:9003140"^^xsd:string) AnnotationAssertion( "Cushing syndrome due to ectopic ACTH secretion"^^xsd:string) AnnotationAssertion( "ectopic ACTH secreting tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060890"^^xsd:string) AnnotationAssertion(rdfs:label "ectopic Cushing syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 19A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22563501"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23211418"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26703368"^^xsd:string) "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615528"^^xsd:string) AnnotationAssertion( "NCI:C198608"^^xsd:string) AnnotationAssertion( "PARK19A"^^xsd:string) AnnotationAssertion( "Parkinson disease 19, juvenile-onset"^^xsd:string) AnnotationAssertion( "Parkinson's disease 19, juvenile-onset"^^xsd:string) AnnotationAssertion( "juvenile onset Parkinson disease 19A"^^xsd:string) AnnotationAssertion( "juvenile onset Parkinson's disease 19A"^^xsd:string) AnnotationAssertion( "PARK19"^^xsd:string) AnnotationAssertion( "PARK19B"^^xsd:string) AnnotationAssertion( "Parkinson disease 19B, early-onset"^^xsd:string) AnnotationAssertion( "Parkinson's disease 19B, early-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060891"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 19A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (late onset Parkinson's disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string) "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614251"^^xsd:string) AnnotationAssertion( "MIM:619491"^^xsd:string) AnnotationAssertion( "MIM:168600"^^xsd:string) AnnotationAssertion( "ORDO:411602"^^xsd:string) AnnotationAssertion( "PD"^^xsd:string) AnnotationAssertion( "late onset Parkinson disease"^^xsd:string) AnnotationAssertion( "late onset Parkinson disease, hereditary"^^xsd:string) AnnotationAssertion( "PARK"^^xsd:string) AnnotationAssertion( "PARK18"^^xsd:string) AnnotationAssertion( "PARK24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Parkinson disease 18, autosomal dominant, susceptibility to"^^xsd:string) AnnotationAssertion( "Parkinson disease 24, autosomal dominant, susceptibility to"^^xsd:string) AnnotationAssertion( "Parkinson disease, late-onset, susceptibility to"^^xsd:string) AnnotationAssertion( "Parkinson's disease 18, autosomal dominant, susceptibility to"^^xsd:string) AnnotationAssertion( "Parkinson's disease, late-onset, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060892"^^xsd:string) AnnotationAssertion(rdfs:label "late onset Parkinson's disease"^^xsd:string) SubClassOf( ) # Class: (juvenile-onset Parkinson's disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string) "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "juvenile-onset Parkinson disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060893"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile-onset Parkinson's disease"^^xsd:string) SubClassOf( ) # Class: (early-onset Parkinson's disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25904081"^^xsd:string) "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0017279"^^xsd:string) AnnotationAssertion( "ORDO:2828"^^xsd:string) AnnotationAssertion( "ORDO:391411"^^xsd:string) AnnotationAssertion( "Young-onset Parkinson disease"^^xsd:string) AnnotationAssertion( "early-onset Parkinson disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060894"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset Parkinson's disease"^^xsd:string) SubClassOf( ) # Class: (Parkinson's disease 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14755720"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17251522"^^xsd:string) "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605543"^^xsd:string) AnnotationAssertion( "MESH:C565324"^^xsd:string) AnnotationAssertion( "NCI:C198604"^^xsd:string) AnnotationAssertion( "PARK4"^^xsd:string) AnnotationAssertion( "autosomal dominant Lewy body Parkinson disease 4"^^xsd:string) AnnotationAssertion( "autosomal dominant Lewy body Parkinson's disease 4"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 4"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060895"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26942284"^^xsd:string) "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G20"^^xsd:string) AnnotationAssertion( "MIM:616840"^^xsd:string) AnnotationAssertion( "NCI:C203536"^^xsd:string) AnnotationAssertion( "PARK23"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 23"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson's disease 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060896"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21763483"^^xsd:string) "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614203"^^xsd:string) AnnotationAssertion( "NCI:C201520"^^xsd:string) AnnotationAssertion( "PARK17"^^xsd:string) AnnotationAssertion( "Parkinson disease 17"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson disease 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060897"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23804563"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23804577"^^xsd:string) "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000983"^^xsd:string) AnnotationAssertion( "MIM:615530"^^xsd:string) AnnotationAssertion( "NCI:C203535"^^xsd:string) AnnotationAssertion( "PARK20"^^xsd:string) AnnotationAssertion( "early-onset Parkinson disease 20"^^xsd:string) AnnotationAssertion( "early-onset Parkinson's disease 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060898"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18570303"^^xsd:string) "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612953"^^xsd:string) AnnotationAssertion( "adult-onset dystonia-parkinsonism"^^xsd:string) AnnotationAssertion( "MESH:C567844"^^xsd:string) AnnotationAssertion( "NCI:C201519"^^xsd:string) AnnotationAssertion( "PARK14"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson disease 14"^^xsd:string) AnnotationAssertion( "autosomal recessive Parkinson's disease 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060900"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphoplasmacytic lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10632755"^^xsd:string) "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050747"^^xsd:string) AnnotationAssertion( "MIM:153600"^^xsd:string) AnnotationAssertion( "MIM:610430"^^xsd:string) AnnotationAssertion( "EFO:0009441"^^xsd:string) AnnotationAssertion( "GARD:7872"^^xsd:string) AnnotationAssertion( "ICD10CM:C88.0"^^xsd:string) AnnotationAssertion( "ICD9CM:273.3"^^xsd:string) AnnotationAssertion( "ICDO:9671/3"^^xsd:string) AnnotationAssertion( "MESH:D008258"^^xsd:string) AnnotationAssertion( "MIM:PS153600"^^xsd:string) AnnotationAssertion( "NCI:C115212"^^xsd:string) AnnotationAssertion( "NCI:C3212"^^xsd:string) AnnotationAssertion( "NCI:C80307"^^xsd:string) AnnotationAssertion( "ORDO:33226"^^xsd:string) AnnotationAssertion( "Waldenstroem's macroglobulinemia"^^xsd:string) AnnotationAssertion( "Waldenstrom Macroglobulinaemia"^^xsd:string) AnnotationAssertion( "Waldenstrom macroglobulinemia"^^xsd:string) AnnotationAssertion( "Waldenstrom's Macroglobulinaemia"^^xsd:string) AnnotationAssertion( "Waldenstrom's macroglobulinemia"^^xsd:string) AnnotationAssertion( "Waldenstroms macroglobulinaemia"^^xsd:string) AnnotationAssertion( "Waldenstroms macroglobulinemia"^^xsd:string) AnnotationAssertion( "familial Waldenstrom macroglobulinaemia"^^xsd:string) AnnotationAssertion( "familial Waldenstrom macroglobulinemia"^^xsd:string) AnnotationAssertion( "familial Waldenstrom's macroglobulinaemia"^^xsd:string) AnnotationAssertion( "familial Waldenstroms macroglobulinaemia"^^xsd:string) AnnotationAssertion( "immunocytoma"^^xsd:string) AnnotationAssertion( "lymphoplasmacytic lymphoma with IgM gammopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "WM1"^^xsd:string) AnnotationAssertion( "WM2"^^xsd:string) AnnotationAssertion( "Waldenstrom macroglobulinemia, somatic"^^xsd:string) AnnotationAssertion( "Waldenstrom macroglobulinemia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "Waldenstrom macroglobulinemia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:0060901"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoplasmacytic lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Norman-Roberts syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10973257"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15083694"^^xsd:string) "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257320"^^xsd:string) AnnotationAssertion( "RDO:0003758"^^xsd:string) AnnotationAssertion( "RELN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537848"^^xsd:string) AnnotationAssertion( "ORDO:89844"^^xsd:string) AnnotationAssertion( "LIS2"^^xsd:string) AnnotationAssertion( "Norman Roberts lissencephaly syndrome"^^xsd:string) AnnotationAssertion( "lissencephaly 2"^^xsd:string) AnnotationAssertion( "lissencephaly 2 (Norman-Roberts type)"^^xsd:string) AnnotationAssertion( "lissencephaly syndrome, Norman-Roberts type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060902"^^xsd:string) AnnotationAssertion(rdfs:label "Norman-Roberts syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thrombosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thrombosis"^^xsd:string) "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013927"^^xsd:string) AnnotationAssertion( "Blood Clot"^^xsd:string) AnnotationAssertion( "Blood Clots"^^xsd:string) AnnotationAssertion( "Thromboses"^^xsd:string) AnnotationAssertion( "Thrombus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060903"^^xsd:string) AnnotationAssertion(rdfs:label "thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (legume allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Legume"^^xsd:string) "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO)"^^xsd:string) AnnotationAssertion( "Fabaceae allergy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060904"^^xsd:string) AnnotationAssertion(rdfs:label "legume allergy"^^xsd:string) SubClassOf( ) # Class: (karyomegalic interstitial nephritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16678356"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22772369"^^xsd:string) "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:11003"^^xsd:string) AnnotationAssertion( "ICD10CM:N11.8"^^xsd:string) AnnotationAssertion( "MIM:614817"^^xsd:string) AnnotationAssertion( "NCI:C173626"^^xsd:string) AnnotationAssertion( "ORDO:401996"^^xsd:string) AnnotationAssertion( "FAN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KIN"^^xsd:string) AnnotationAssertion( "KMIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060911"^^xsd:string) AnnotationAssertion(rdfs:label "karyomegalic interstitial nephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (craniosynostosis 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23438589/"^^xsd:string) "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:38:11Z"^^xsd:string) AnnotationAssertion( "DOID:9000082"^^xsd:string) AnnotationAssertion( "MIM:617439"^^xsd:string) AnnotationAssertion( "CRS7"^^xsd:string) AnnotationAssertion( "CRS7, DIGENIC"^^xsd:string) AnnotationAssertion( "craniosynostosis 7, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Craniosynostosis 7, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0060912"^^xsd:string) AnnotationAssertion(rdfs:label "craniosynostosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proteosome-associated autoinflammatory syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25521013/"^^xsd:string) "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:29:04Z"^^xsd:string) AnnotationAssertion( "DOID:9004752"^^xsd:string) AnnotationAssertion( "MIM:PS256040"^^xsd:string) AnnotationAssertion( "ORDO:324977"^^xsd:string) AnnotationAssertion( "proteasome-associated autoinflammatory syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060913"^^xsd:string) AnnotationAssertion(rdfs:label "proteosome-associated autoinflammatory syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proteosome-associated autoinflammatory syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29805043/"^^xsd:string) "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:45:38Z"^^xsd:string) AnnotationAssertion( "DOID:9009201"^^xsd:string) AnnotationAssertion( "MIM:618048"^^xsd:string) AnnotationAssertion( "POMP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PRAAS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060914"^^xsd:string) AnnotationAssertion(rdfs:label "proteosome-associated autoinflammatory syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proteosome-associated autoinflammatory syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30664889/"^^xsd:string) "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:45:58Z"^^xsd:string) AnnotationAssertion( "DOID:9003015"^^xsd:string) AnnotationAssertion( "MIM:619183"^^xsd:string) AnnotationAssertion( "MONDO:0030931"^^xsd:string) AnnotationAssertion( "PRAAS4"^^xsd:string) AnnotationAssertion( "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060915"^^xsd:string) AnnotationAssertion(rdfs:label "proteosome-associated autoinflammatory syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proteosome-associated autoinflammatory syndrome 3) AnnotationAssertion( "An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:46:11Z"^^xsd:string) AnnotationAssertion( "DOID:9009202"^^xsd:string) AnnotationAssertion( "MIM:617591"^^xsd:string) AnnotationAssertion( "MONDO:0054699"^^xsd:string) AnnotationAssertion( "PRAAS3"^^xsd:string) AnnotationAssertion( "proteosome-associated autoinflammatory syndrome 3, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060916"^^xsd:string) AnnotationAssertion(rdfs:label "proteosome-associated autoinflammatory syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (facioscapulohumeral muscular dystrophy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32467133/"^^xsd:string) "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:05:40Z"^^xsd:string) AnnotationAssertion( "DOID:9005731"^^xsd:string) AnnotationAssertion( "MIM:619477"^^xsd:string) AnnotationAssertion( "FSHD3"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy 3, digenic"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060917"^^xsd:string) AnnotationAssertion(rdfs:label "facioscapulohumeral muscular dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (facioscapulohumeral muscular dystrophy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27153398/"^^xsd:string) "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:05:57Z"^^xsd:string) AnnotationAssertion( "DOID:9002013"^^xsd:string) AnnotationAssertion( "MIM:619478"^^xsd:string) AnnotationAssertion( "FSHD4"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy 4, digenic"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060918"^^xsd:string) AnnotationAssertion(rdfs:label "facioscapulohumeral muscular dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proteosome-associated autoinflammatory syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31783057/"^^xsd:string) "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T13:52:40Z"^^xsd:string) AnnotationAssertion( "DOID:9009033"^^xsd:string) AnnotationAssertion( "MIM:619175"^^xsd:string) AnnotationAssertion( "MONDO:0030924"^^xsd:string) AnnotationAssertion( "PRAAS5"^^xsd:string) AnnotationAssertion( "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060919"^^xsd:string) AnnotationAssertion(rdfs:label "proteosome-associated autoinflammatory syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otosclerosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9425236/"^^xsd:string) "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:18:53Z"^^xsd:string) AnnotationAssertion( "DOID:9008430"^^xsd:string) AnnotationAssertion( "MIM:166800"^^xsd:string) AnnotationAssertion( "OTSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060920"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 1"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11170898/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:21:12Z"^^xsd:string) AnnotationAssertion( "DOID:9001381"^^xsd:string) AnnotationAssertion( "MIM:605727"^^xsd:string) AnnotationAssertion( "MESH:C565302"^^xsd:string) AnnotationAssertion( "OTSC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060921"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 2"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17568407/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:23:02Z"^^xsd:string) AnnotationAssertion( "DOID:9004993"^^xsd:string) AnnotationAssertion( "MIM:608244"^^xsd:string) AnnotationAssertion( "MESH:C564268"^^xsd:string) AnnotationAssertion( "OTSC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060922"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 3"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16618911/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:24:16Z"^^xsd:string) AnnotationAssertion( "DOID:9001658"^^xsd:string) AnnotationAssertion( "MIM:611571"^^xsd:string) AnnotationAssertion( "MESH:C566914"^^xsd:string) AnnotationAssertion( "OTSC4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060923"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 4"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15173231/"^^xsd:string) "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:25:38Z"^^xsd:string) AnnotationAssertion( "DOID:9004280"^^xsd:string) AnnotationAssertion( "MIM:608787"^^xsd:string) AnnotationAssertion( "MESH:C563858"^^xsd:string) AnnotationAssertion( "OTSC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060924"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 5"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17213839/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:26:52Z"^^xsd:string) AnnotationAssertion( "DOID:9003581"^^xsd:string) AnnotationAssertion( "MESH:C566913"^^xsd:string) AnnotationAssertion( "MIM:611572"^^xsd:string) AnnotationAssertion( "MONDO:0012697"^^xsd:string) AnnotationAssertion( "OTSC7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060925"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 7"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17568407/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:28:09Z"^^xsd:string) AnnotationAssertion( "DOID:9002286"^^xsd:string) AnnotationAssertion( "MIM:612096"^^xsd:string) AnnotationAssertion( "MESH:C567421"^^xsd:string) AnnotationAssertion( "OTSC8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060926"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 8"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21470211/"^^xsd:string) "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:29:40Z"^^xsd:string) AnnotationAssertion( "DOID:9009114"^^xsd:string) AnnotationAssertion( "MIM:615589"^^xsd:string) AnnotationAssertion( "OTSC10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060927"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 10"^^xsd:string) SubClassOf( ) # Class: (otosclerosis 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34633540/"^^xsd:string) "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:31:29Z"^^xsd:string) AnnotationAssertion( "DOID:9008970"^^xsd:string) AnnotationAssertion( "MIM:620576"^^xsd:string) AnnotationAssertion( "OTSC11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060928"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis 11"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual developmental disorder 111) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35840571/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:32:46Z"^^xsd:string) AnnotationAssertion( "DOID:9007793"^^xsd:string) AnnotationAssertion( "MIM:301107"^^xsd:string) AnnotationAssertion( "X-Linked Intellectual Developmental Disorder 111"^^xsd:string) AnnotationAssertion( "XLID111"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060929"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual developmental disorder 111"^^xsd:string) SubClassOf( ) # Class: (developmental dysplasia of the hip) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11246461/"^^xsd:string) "A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:29:38Z"^^xsd:string) AnnotationAssertion( "MESH:D000082602"^^xsd:string) AnnotationAssertion( "MIM:PS142700"^^xsd:string) AnnotationAssertion( "DDH"^^xsd:string) AnnotationAssertion( "acetabular dysplasia"^^xsd:string) AnnotationAssertion( "developmental hip dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060930"^^xsd:string) AnnotationAssertion(rdfs:label "developmental dysplasia of the hip"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental dysplasia of the hip 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11246461/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16773577/"^^xsd:string) "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:29:54Z"^^xsd:string) AnnotationAssertion( "DOID:9004340"^^xsd:string) AnnotationAssertion( "MIM:142700"^^xsd:string) AnnotationAssertion( "DDH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060931"^^xsd:string) AnnotationAssertion(rdfs:label "developmental dysplasia of the hip 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental dysplasia of the hip 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23716478/"^^xsd:string) "A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:30:06Z"^^xsd:string) AnnotationAssertion( "DOID:9001838"^^xsd:string) AnnotationAssertion( "MIM:615612"^^xsd:string) AnnotationAssertion( "DDH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060932"^^xsd:string) AnnotationAssertion(rdfs:label "developmental dysplasia of the hip 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental delay, dysmorphic facies, and brain anomalies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34112922/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37134193/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37962958/"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:10:10Z"^^xsd:string) AnnotationAssertion( "DOID:9003387"^^xsd:string) AnnotationAssertion( "MIM:620535"^^xsd:string) AnnotationAssertion( "DEVDFB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060933"^^xsd:string) AnnotationAssertion(rdfs:label "developmental delay, dysmorphic facies, and brain anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28626029/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31687267/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35150401/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37713627/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:15:10Z"^^xsd:string) AnnotationAssertion( "DOID:9009122"^^xsd:string) AnnotationAssertion( "MIM:617862"^^xsd:string) AnnotationAssertion( "NEDMEBA"^^xsd:string) AnnotationAssertion( "TRAPPC6B-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060934"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"^^xsd:string) SubClassOf( ) # Class: (infantile hypotonia with psychomotor retardation and characteristic facies-3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27040691/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27040692/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30103036/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:18:17Z"^^xsd:string) AnnotationAssertion( "DOID:9006056"^^xsd:string) AnnotationAssertion( "MIM:616900"^^xsd:string) AnnotationAssertion( "ORDO:488632"^^xsd:string) AnnotationAssertion( "IHPRF3"^^xsd:string) AnnotationAssertion( "SYNDROMIC INFANTILE ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "TBCK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TBCK-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "TBCK-related intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060935"^^xsd:string) AnnotationAssertion(rdfs:label "infantile hypotonia with psychomotor retardation and characteristic facies-3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 28, childhood-onset) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27839873/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27992417/"^^xsd:string) "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:41:35Z"^^xsd:string) AnnotationAssertion( "DOID:9004049"^^xsd:string) AnnotationAssertion( "KMT2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009301"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.8"^^xsd:string) AnnotationAssertion( "MIM:617284"^^xsd:string) AnnotationAssertion( "MONDO:0015004"^^xsd:string) AnnotationAssertion( "ORDO:589618"^^xsd:string) AnnotationAssertion( "DYT28"^^xsd:string) AnnotationAssertion( "dystonia 28 childhood-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060936"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 28, childhood-onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27174565/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32808683/"^^xsd:string) "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:44:19Z"^^xsd:string) AnnotationAssertion( "DOID:9008352"^^xsd:string) AnnotationAssertion( "MIM:619291"^^xsd:string) AnnotationAssertion( "DYT30"^^xsd:string) AnnotationAssertion( "VPS16-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060937"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34596301/"^^xsd:string) "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:44:33Z"^^xsd:string) AnnotationAssertion( "DOID:9004381"^^xsd:string) AnnotationAssertion( "MIM:619565"^^xsd:string) AnnotationAssertion( "DYT31"^^xsd:string) AnnotationAssertion( "Zech-Boesch syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060938"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 31"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33452836/"^^xsd:string) "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:44:50Z"^^xsd:string) AnnotationAssertion( "DOID:9000126"^^xsd:string) AnnotationAssertion( "MIM:619637"^^xsd:string) AnnotationAssertion( "DYT32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060939"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 32"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33236446/"^^xsd:string) "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:50:37Z"^^xsd:string) AnnotationAssertion( "DOID:9007930"^^xsd:string) AnnotationAssertion( "MIM:619687"^^xsd:string) AnnotationAssertion( "MONDO:0030513"^^xsd:string) AnnotationAssertion( "DYT33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060940"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 33"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (interstitial lung disease 1) AnnotationAssertion(Annotation( "https://academic.oup.com/hmg/article/25/8/1457/2384565"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30854216/"^^xsd:string) "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-30T17:01:48Z"^^xsd:string) AnnotationAssertion( "DOID:9002918"^^xsd:string) AnnotationAssertion( "MIM:619611"^^xsd:string) AnnotationAssertion( "MONDO:0030608"^^xsd:string) AnnotationAssertion( "ORDO:2032"^^xsd:string) AnnotationAssertion( "ILD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060941"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial lung disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23622361/"^^xsd:string) "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-30T17:05:05Z"^^xsd:string) AnnotationAssertion( "DOID:9005971"^^xsd:string) AnnotationAssertion( "MIM:620727"^^xsd:string) AnnotationAssertion( "MONDO:0958235"^^xsd:string) AnnotationAssertion( "UCMD1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "UCMD1A/1B, DIGENIC"^^xsd:string) AnnotationAssertion( "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC"^^xsd:string) AnnotationAssertion( "DOID:0060942"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy 1B"^^xsd:string) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy 1C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23622361/"^^xsd:string) "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-30T17:27:06Z"^^xsd:string) AnnotationAssertion( "DOID:9006954"^^xsd:string) AnnotationAssertion( "MIM:620728"^^xsd:string) AnnotationAssertion( "MONDO:0958236"^^xsd:string) AnnotationAssertion( "UCMD1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060943"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy 1C"^^xsd:string) SubClassOf( ) # Class: (episodic kinesigenic dyskinesia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34518509/"^^xsd:string) "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:51:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008127"^^xsd:string) AnnotationAssertion( "MIM:620245"^^xsd:string) AnnotationAssertion( "MONDO:0859380"^^xsd:string) AnnotationAssertion( "EKD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060944"^^xsd:string) AnnotationAssertion(rdfs:label "episodic kinesigenic dyskinesia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1K) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33652941/"^^xsd:string) "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T10:27:46Z"^^xsd:string) AnnotationAssertion( "DOID:9002275"^^xsd:string) AnnotationAssertion( "MIM:620104"^^xsd:string) AnnotationAssertion( "MONDO:0031084"^^xsd:string) AnnotationAssertion( "AI1K"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK"^^xsd:string) AnnotationAssertion( "Amelogenesis imperfecta, type IK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060945"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1K"^^xsd:string) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy 1A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23622361/"^^xsd:string) "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T10:57:12Z"^^xsd:string) AnnotationAssertion( "DOID:9000534"^^xsd:string) AnnotationAssertion( "COL6A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:254090"^^xsd:string) AnnotationAssertion( "MONDO:0009681"^^xsd:string) AnnotationAssertion( "UCMD1A"^^xsd:string) AnnotationAssertion( "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "UCMD1"^^xsd:string) AnnotationAssertion( "UCMD1A/1B, DIGENIC"^^xsd:string) AnnotationAssertion( "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC"^^xsd:string) AnnotationAssertion( "Ullrich congenital muscular dystrophy 1"^^xsd:string) AnnotationAssertion( "DOID:0060946"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy 1A"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 82) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37226891/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:00:09Z"^^xsd:string) AnnotationAssertion( "MIM:620779"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060947"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 82"^^xsd:string) SubClassOf( ) # Class: (Ullrich congenital muscular dystrophy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24334604/"^^xsd:string) "An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:13:32Z"^^xsd:string) AnnotationAssertion( "COL12A1- RELATED DISORDER"^^xsd:string) AnnotationAssertion( "COL12A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616470"^^xsd:string) AnnotationAssertion( "MONDO:0014654"^^xsd:string) AnnotationAssertion( "UCMD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060948"^^xsd:string) AnnotationAssertion(rdfs:label "Ullrich congenital muscular dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (3-hydroxyisobutryl-CoA hydrolase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24299452/"^^xsd:string) "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:25:53Z"^^xsd:string) AnnotationAssertion( "DOID:9008784"^^xsd:string) AnnotationAssertion( "GARD:13202"^^xsd:string) AnnotationAssertion( "MESH:C562803"^^xsd:string) AnnotationAssertion( "MIM:250620"^^xsd:string) AnnotationAssertion( "MONDO:0009603"^^xsd:string) AnnotationAssertion( "ORDO:88639"^^xsd:string) AnnotationAssertion( "3-hydroxyisobutyryl-CoA hydrolase deficiency"^^xsd:string) AnnotationAssertion( "Beta-Hydroxyisobutyryl CoA Deacylase Deficiency"^^xsd:string) AnnotationAssertion( "HIBCH Deficiency"^^xsd:string) AnnotationAssertion( "HIBCHD"^^xsd:string) AnnotationAssertion( "Methacrylic Acid Toxicity"^^xsd:string) AnnotationAssertion( "Methacrylic Aciduria"^^xsd:string) AnnotationAssertion( "NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "valine metabolic defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060949"^^xsd:string) AnnotationAssertion(rdfs:label "3-hydroxyisobutryl-CoA hydrolase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypervalinemia and hyperleucine-isoleucinemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25653144/"^^xsd:string) "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:44:32Z"^^xsd:string) AnnotationAssertion( "DOID:9000861"^^xsd:string) AnnotationAssertion( "MIM:618850"^^xsd:string) AnnotationAssertion( "BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "HVLI"^^xsd:string) AnnotationAssertion( "branched-chain aminotransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060950"^^xsd:string) AnnotationAssertion(rdfs:label "hypervalinemia and hyperleucine-isoleucinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic kidney disease 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29706351/"^^xsd:string) "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:48:12Z"^^xsd:string) AnnotationAssertion( "DOID:9009199"^^xsd:string) AnnotationAssertion( "MIM:618061"^^xsd:string) AnnotationAssertion( "MONDO:0054842"^^xsd:string) AnnotationAssertion( "PKD6"^^xsd:string) AnnotationAssertion( "Polycystic Kidney Disease 6 with or without Polycystic Liver Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060951"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 6"^^xsd:string) SubClassOf( ) # Class: (polycystic kidney disease 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35896117/"^^xsd:string) "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:54:14Z"^^xsd:string) AnnotationAssertion( "DOID:9006011"^^xsd:string) AnnotationAssertion( "MIM:620056"^^xsd:string) AnnotationAssertion( "MONDO:0031062"^^xsd:string) AnnotationAssertion( "PKD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060952"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 7"^^xsd:string) SubClassOf( ) # Class: (ZTTK syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27545680/"^^xsd:string) "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T13:57:23Z"^^xsd:string) AnnotationAssertion( "DOID:9005698"^^xsd:string) AnnotationAssertion( "GARD:13489"^^xsd:string) AnnotationAssertion( "MIM:617140"^^xsd:string) AnnotationAssertion( "MONDO:0014936"^^xsd:string) AnnotationAssertion( "ORDO:500150"^^xsd:string) AnnotationAssertion( "SON-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME"^^xsd:string) AnnotationAssertion( "ZTTKS"^^xsd:string) AnnotationAssertion( "Zhu-Tokita-Takenouchi-Kim syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060953"^^xsd:string) AnnotationAssertion(rdfs:label "ZTTK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Holoprosencephaly 13, X-linked) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31334757/"^^xsd:string) "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:00:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008492"^^xsd:string) AnnotationAssertion( "STAG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "STAG2-related disorder"^^xsd:string) AnnotationAssertion( "MIM:301043"^^xsd:string) AnnotationAssertion( "MONDO:0026763"^^xsd:string) AnnotationAssertion( "HPE13"^^xsd:string) AnnotationAssertion( "Holoprosencephaly 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060954"^^xsd:string) AnnotationAssertion(rdfs:label "Holoprosencephaly 13, X-linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 35, childhood-onset) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34542157/"^^xsd:string) "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:54:08Z"^^xsd:string) AnnotationAssertion( "DOID:9007245"^^xsd:string) AnnotationAssertion( "MIM:619921"^^xsd:string) AnnotationAssertion( "DYT35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060955"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 35, childhood-onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 37, early-onset with striatal lesions) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36333996/"^^xsd:string) "A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:55:26Z"^^xsd:string) AnnotationAssertion( "DOID:9004848"^^xsd:string) AnnotationAssertion( "MIM:620427"^^xsd:string) AnnotationAssertion( "DYT37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060956"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 37, early-onset with striatal lesions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoclonic dystonia 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32212350/"^^xsd:string) "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T10:56:56Z"^^xsd:string) AnnotationAssertion( "DOID:9004834"^^xsd:string) AnnotationAssertion( "KCNN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619724"^^xsd:string) AnnotationAssertion( "DYT34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060957"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic dystonia 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XIV) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24997988/"^^xsd:string) "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:38:04Z"^^xsd:string) AnnotationAssertion( "DOID:9002841"^^xsd:string) AnnotationAssertion( "GARD:13655"^^xsd:string) AnnotationAssertion( "MIM:615948"^^xsd:string) AnnotationAssertion( "MONDO:0014413"^^xsd:string) AnnotationAssertion( "ORDO:434179"^^xsd:string) AnnotationAssertion( "C2CD3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OFD14"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060958"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XIV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome II) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27530628/"^^xsd:string) "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:41:49Z"^^xsd:string) AnnotationAssertion( "DOID:9003244"^^xsd:string) AnnotationAssertion( "GARD:3701"^^xsd:string) AnnotationAssertion( "MESH:C538585"^^xsd:string) AnnotationAssertion( "MIM:252100"^^xsd:string) AnnotationAssertion( "MONDO:0009642"^^xsd:string) AnnotationAssertion( "ORDO:2751"^^xsd:string) AnnotationAssertion( "Mohr Syndrome"^^xsd:string) AnnotationAssertion( "Oral Facial Digital Syndrome, Type II"^^xsd:string) AnnotationAssertion( "Oral-facial-digital syndrome, type 2"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060959"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XIX) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36084634/"^^xsd:string) "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:45:39Z"^^xsd:string) AnnotationAssertion( "DOID:9000935"^^xsd:string) AnnotationAssertion( "MIM:620107"^^xsd:string) AnnotationAssertion( "OFD19"^^xsd:string) AnnotationAssertion( "OFDS XIX"^^xsd:string) AnnotationAssertion( "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060960"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XIX"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XVIII) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27060890/"^^xsd:string) "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:50:14Z"^^xsd:string) AnnotationAssertion( "DOID:9006510"^^xsd:string) AnnotationAssertion( "MIM:617927"^^xsd:string) AnnotationAssertion( "MONDO:0054770"^^xsd:string) AnnotationAssertion( "ORDO:508501"^^xsd:string) AnnotationAssertion( "OFD18"^^xsd:string) AnnotationAssertion( "OFDS XVIII"^^xsd:string) AnnotationAssertion( "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII"^^xsd:string) AnnotationAssertion( "Oral-facial-digital syndrome type 18"^^xsd:string) AnnotationAssertion( "Oral-facial-digital syndrome with short stature and brachymesophalangy"^^xsd:string) AnnotationAssertion( "Orofaciodigital syndrome type 18"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060961"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XVIII"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XX) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37384395/"^^xsd:string) "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T14:54:26Z"^^xsd:string) AnnotationAssertion( "DOID:9009195"^^xsd:string) AnnotationAssertion( "MIM:620718"^^xsd:string) AnnotationAssertion( "MONDO:0958230"^^xsd:string) AnnotationAssertion( "OFD20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060962"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XX"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia, DOPA-responsive) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17111153/"^^xsd:string) "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:04:21Z"^^xsd:string) AnnotationAssertion( "ICD10:G24.1"^^xsd:string) AnnotationAssertion( "MIM:128230"^^xsd:string) AnnotationAssertion( "MONDO:0016812"^^xsd:string) AnnotationAssertion( "ORDO:98808"^^xsd:string) AnnotationAssertion( "Autosomal dominant Segawa syndrome"^^xsd:string) AnnotationAssertion( "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION"^^xsd:string) AnnotationAssertion( "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION"^^xsd:string) AnnotationAssertion( "GTPCH1-deficient DRD"^^xsd:string) AnnotationAssertion( "GTPCH1-deficient dopa-responsive dystonia"^^xsd:string) AnnotationAssertion( "HPD with marked diurnal fluctuation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060963"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia, DOPA-responsive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30157302/"^^xsd:string) "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T15:23:37Z"^^xsd:string) AnnotationAssertion( "DOID:9006321"^^xsd:string) AnnotationAssertion( "SMAD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619656"^^xsd:string) AnnotationAssertion( "MONDO:0030500"^^xsd:string) AnnotationAssertion( "LDS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060964"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 6"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia type 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30928199/"^^xsd:string) "An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-18T15:47:37Z"^^xsd:string) AnnotationAssertion( "DOID:9006425"^^xsd:string) AnnotationAssertion( "COMPLEX NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "SCN2A-related disorder"^^xsd:string) AnnotationAssertion( "MIM:618924"^^xsd:string) AnnotationAssertion( "MONDO:0030064"^^xsd:string) AnnotationAssertion( "EA9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060965"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia type 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 22, juvenile-onset) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33539324/"^^xsd:string) "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:16:44Z"^^xsd:string) AnnotationAssertion( "DOID:9000446"^^xsd:string) AnnotationAssertion( "DYT22"^^xsd:string) AnnotationAssertion( "dystonia 22"^^xsd:string) AnnotationAssertion( "MIM:620453"^^xsd:string) AnnotationAssertion( "DYT22JO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060966"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 22, juvenile-onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 22, adult-onset) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33539324/"^^xsd:string) "A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:18:50Z"^^xsd:string) AnnotationAssertion( "DOID:9004025"^^xsd:string) AnnotationAssertion( "MIM:620456"^^xsd:string) AnnotationAssertion( "DYT22AO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060967"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 22, adult-onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32336749/"^^xsd:string) "A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T09:48:07Z"^^xsd:string) AnnotationAssertion( "DOID:9001132"^^xsd:string) AnnotationAssertion( "MIM:620177"^^xsd:string) AnnotationAssertion( "MONDO:0859341"^^xsd:string) AnnotationAssertion( "HYPT15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060968"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (galactosemia 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30451973/"^^xsd:string) "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T09:50:33Z"^^xsd:string) AnnotationAssertion( "DOID:9004085"^^xsd:string) AnnotationAssertion( "MIM:618881"^^xsd:string) AnnotationAssertion( "MONDO:0030105"^^xsd:string) AnnotationAssertion( "ORDO:570422"^^xsd:string) AnnotationAssertion( "GALAC4"^^xsd:string) AnnotationAssertion( "GALM deficiency"^^xsd:string) AnnotationAssertion( "GALM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "galactose mutarotase deficiency"^^xsd:string) AnnotationAssertion( "galactosemia IV"^^xsd:string) AnnotationAssertion( "galactosemia type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060969"^^xsd:string) AnnotationAssertion(rdfs:label "galactosemia 4"^^xsd:string) SubClassOf( ) # Class: (Cornelia de Lange syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16604071/"^^xsd:string) "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T09:54:26Z"^^xsd:string) AnnotationAssertion( "DOID:9006093"^^xsd:string) AnnotationAssertion( "MIM:620568"^^xsd:string) AnnotationAssertion( "MONDO:0957921"^^xsd:string) AnnotationAssertion( "CDLS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060970"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (interstitial lung disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32855221/"^^xsd:string) "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T14:21:30Z"^^xsd:string) AnnotationAssertion( "MIM:178500"^^xsd:string) AnnotationAssertion( "ILD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060971"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial lung disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal hypomagnesemia 7, with or without dilated cardiomyopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34607910/"^^xsd:string) "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T15:58:26Z"^^xsd:string) AnnotationAssertion( "DOID:9005972"^^xsd:string) AnnotationAssertion( "MIM:620152"^^xsd:string) AnnotationAssertion( "HOMG7"^^xsd:string) AnnotationAssertion( "RRAGD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy"^^xsd:string) AnnotationAssertion( "HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060972"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypomagnesemia 7, with or without dilated cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (WHIM syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24777453/"^^xsd:string) "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:03:47Z"^^xsd:string) AnnotationAssertion( "DOID:9006180"^^xsd:string) AnnotationAssertion( "MIM:619407"^^xsd:string) AnnotationAssertion( "MONDO:0030374"^^xsd:string) AnnotationAssertion( "CXCR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WHIMS2"^^xsd:string) AnnotationAssertion( "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060973"^^xsd:string) AnnotationAssertion(rdfs:label "WHIM syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive Robinow syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29276006/"^^xsd:string) "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:13:30Z"^^xsd:string) AnnotationAssertion( "DOID:9007716"^^xsd:string) AnnotationAssertion( "MIM:618529"^^xsd:string) AnnotationAssertion( "MONDO:0032800"^^xsd:string) AnnotationAssertion( "RRS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060974"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive Robinow syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic liver disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24886261/"^^xsd:string) "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:17:28Z"^^xsd:string) AnnotationAssertion( "DOID:9006964"^^xsd:string) AnnotationAssertion( "MIM:617004"^^xsd:string) AnnotationAssertion( "MONDO:0014860"^^xsd:string) AnnotationAssertion( "PCLD2"^^xsd:string) AnnotationAssertion( "polycystic liver disease 2 with or without kidney cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060975"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic liver disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic liver disease 3 with or without kidney cysts) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28375157/"^^xsd:string) "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:24:56Z"^^xsd:string) AnnotationAssertion( "DOID:9009126"^^xsd:string) AnnotationAssertion( "MIM:617874"^^xsd:string) AnnotationAssertion( "MONDO:0054743"^^xsd:string) AnnotationAssertion( "PCLD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060976"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic liver disease 3 with or without kidney cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic liver disease 4 with or without kidney cysts) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24706814/"^^xsd:string) "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:25:11Z"^^xsd:string) AnnotationAssertion( "DOID:9009127"^^xsd:string) AnnotationAssertion( "MIM:617875"^^xsd:string) AnnotationAssertion( "MONDO:0044327"^^xsd:string) AnnotationAssertion( "PCLD4"^^xsd:string) AnnotationAssertion( "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0060977"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic liver disease 4 with or without kidney cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27208207"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27696117"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "HTRA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617248"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VIII"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VIII, MGCA8"^^xsd:string) AnnotationAssertion( "MGCA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070000"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27573165"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617698"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type IX"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type IX, MGCA9"^^xsd:string) AnnotationAssertion( "3-methylglutaconic acuduria type IX, MGCA9"^^xsd:string) AnnotationAssertion( "MGCA9"^^xsd:string) AnnotationAssertion( "TIMM50-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070002"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blastoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Blastoma"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005785"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070003"^^xsd:string) AnnotationAssertion(rdfs:label "blastoma"^^xsd:string) SubClassOf( ) # Class: (myeloid neoplasm) AnnotationAssertion(Annotation( "http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19357394"^^xsd:string) "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002427"^^xsd:string) AnnotationAssertion( "MESH:D009196"^^xsd:string) AnnotationAssertion( "MONDO:0005170"^^xsd:string) AnnotationAssertion( "NCI:C9290"^^xsd:string) AnnotationAssertion( "myeloid malignancy"^^xsd:string) AnnotationAssertion( "myeloid tumor"^^xsd:string) AnnotationAssertion( "myeloproliferative disorder"^^xsd:string) AnnotationAssertion( "myeloproliferative disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070004"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid neoplasm"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26595769"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616777"^^xsd:string) AnnotationAssertion( "SCKL9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070005"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21983783"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614728"^^xsd:string) AnnotationAssertion( "SCKL6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070006"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12640452"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210600"^^xsd:string) AnnotationAssertion( "ATR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537533"^^xsd:string) AnnotationAssertion( "SCKL1"^^xsd:string) AnnotationAssertion( "Seckel-type dwarfism"^^xsd:string) AnnotationAssertion( "microcephalic primordial dwarfism 1"^^xsd:string) AnnotationAssertion( "microcephalic primordial dwarfism I"^^xsd:string) AnnotationAssertion( "nanocephalic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070007"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Seckel syndrome 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25105364"^^xsd:string) "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617253"^^xsd:string) AnnotationAssertion( "SCKL10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070008"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 10"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24389050"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "DNA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615807"^^xsd:string) AnnotationAssertion( "SCKL8"^^xsd:string) AnnotationAssertion( "Seckel syndrome type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070009"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20522431"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "CENPJ-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613676"^^xsd:string) AnnotationAssertion( "SCKL4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070010"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Seckel syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22933543"^^xsd:string) "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614851"^^xsd:string) AnnotationAssertion( "SCKL7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070011"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21131973"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "CEP152-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CEP152-related disorder"^^xsd:string) AnnotationAssertion( "CEP152-related disorders"^^xsd:string) AnnotationAssertion( "MIM:613823"^^xsd:string) AnnotationAssertion( "SCKL5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070012"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Seckel syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21998596"^^xsd:string) "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606744"^^xsd:string) AnnotationAssertion( "Seckel-type dwarfism 2"^^xsd:string) AnnotationAssertion( "MESH:C537534"^^xsd:string) AnnotationAssertion( "Bird-headed dwarfism 2"^^xsd:string) AnnotationAssertion( "Microcephalic primordial dwarfism 2"^^xsd:string) AnnotationAssertion( "SCKL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RBBP8-related disorders"^^xsd:string) AnnotationAssertion( "DOID:0070013"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant dyskeratosis congenita 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11574891"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:127550"^^xsd:string) AnnotationAssertion( "DKCA1"^^xsd:string) AnnotationAssertion( "Dyskeratosis Congenita, Scoggins Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070014"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dyskeratosis congenita 1"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17507419"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224230"^^xsd:string) AnnotationAssertion( "DKCB1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070015"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant dyskeratosis congenita 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16247010"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613989"^^xsd:string) AnnotationAssertion( "DKCA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070016"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dyskeratosis congenita 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18523010"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613987"^^xsd:string) AnnotationAssertion( "DKCB2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070017"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant dyskeratosis congenita 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252230"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "TINF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613990"^^xsd:string) AnnotationAssertion( "DKCA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070018"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dyskeratosis congenita 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21205863"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613988"^^xsd:string) AnnotationAssertion( "DKCB3"^^xsd:string) AnnotationAssertion( "WRAP53-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070019"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 3"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant dyskeratosis congenita 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23329068"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "DKCA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070020"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dyskeratosis congenita 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17785587"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "DKCB4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070021"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19461895"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615190"^^xsd:string) AnnotationAssertion( "DKCB5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070022"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 5"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant dyskeratosis congenita 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25205116"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "ACD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616553"^^xsd:string) AnnotationAssertion( "DKCA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DKCB7"^^xsd:string) AnnotationAssertion( "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7"^^xsd:string) AnnotationAssertion( "DOID:0070023"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dyskeratosis congenita 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive dyskeratosis congenita 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25893599"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007288"^^xsd:string) AnnotationAssertion( "MIM:616353"^^xsd:string) AnnotationAssertion( "DKCB6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070024"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive dyskeratosis congenita 6"^^xsd:string) SubClassOf( ) # Class: (X-linked dyskeratosis congenita) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590285"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "DKC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:305000"^^xsd:string) AnnotationAssertion( "DKCX"^^xsd:string) AnnotationAssertion( "Zinsser-Cole-Engman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070025"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dyskeratosis congenita"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Revesz syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252230"^^xsd:string) "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268130"^^xsd:string) AnnotationAssertion( "TINF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4695"^^xsd:string) AnnotationAssertion( "MESH:C538371"^^xsd:string) AnnotationAssertion( "DKCA5"^^xsd:string) AnnotationAssertion( "Revesz Debuse syndrome"^^xsd:string) AnnotationAssertion( "dyskeratosis congenita, autosomal dominant 5"^^xsd:string) AnnotationAssertion( "exudative retinopathy with bone marrow failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070026"^^xsd:string) AnnotationAssertion(rdfs:label "Revesz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CST3-related cerebral amyloid angiopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2900981"^^xsd:string) "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105150"^^xsd:string) AnnotationAssertion( "RDO:0004152"^^xsd:string) AnnotationAssertion( "MESH:D028243"^^xsd:string) AnnotationAssertion( "Amyloidosis VI"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Cerebrovascular Amyloidosis"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, Familial"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, Genetic"^^xsd:string) AnnotationAssertion( "Dutch Type Hereditary Cerebral Amyloid Angiopathy"^^xsd:string) AnnotationAssertion( "HCHWA"^^xsd:string) AnnotationAssertion( "Hereditary Cerebral Amyloid Angiopathy"^^xsd:string) AnnotationAssertion( "Hereditary Cerebral Hemorrhage With Amyloidosis"^^xsd:string) AnnotationAssertion( "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant"^^xsd:string) AnnotationAssertion( "Icelandic Type Amyloidosis"^^xsd:string) AnnotationAssertion( "Icelandic type hereditary cerebral amyloid angiopathy"^^xsd:string) AnnotationAssertion( "cerebroarterial amyloidosis, Icelandic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070027"^^xsd:string) AnnotationAssertion(rdfs:label "CST3-related cerebral amyloid angiopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (APP-related cerebral amyloid angiopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2111584"^^xsd:string) "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605714"^^xsd:string) AnnotationAssertion( "APP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537944"^^xsd:string) AnnotationAssertion( "NCI:C157147"^^xsd:string) AnnotationAssertion( "APP-related cerebral amyloid angiopathy, Arctic variant"^^xsd:string) AnnotationAssertion( "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, App-Related, Italian Variant"^^xsd:string) AnnotationAssertion( "Cerebral Amyloid Angiopathy, App-Related, Piedmont Variant"^^xsd:string) AnnotationAssertion( "Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type"^^xsd:string) AnnotationAssertion( "HCHWAD"^^xsd:string) AnnotationAssertion( "cerebroarterial amyloidosis, APP-related"^^xsd:string) AnnotationAssertion( "hereditary amyloidosis with cerebral hemorrhage, Dutch variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070028"^^xsd:string) AnnotationAssertion(rdfs:label "APP-related cerebral amyloid angiopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ITM2B-related cerebral amyloid angiopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10391242"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7086452"^^xsd:string) "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176500"^^xsd:string) AnnotationAssertion( "GARD:8344"^^xsd:string) AnnotationAssertion( "MESH:C538208"^^xsd:string) AnnotationAssertion( "FBD"^^xsd:string) AnnotationAssertion( "cerebral amyloid angiopathy, British type"^^xsd:string) AnnotationAssertion( "familial British dementia"^^xsd:string) AnnotationAssertion( "presenile dementia with spastic ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070029"^^xsd:string) AnnotationAssertion(rdfs:label "ITM2B-related cerebral amyloid angiopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ITM2B-related cerebral amyloid angiopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10781099"^^xsd:string) "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117300"^^xsd:string) AnnotationAssertion( "RDO:0004153"^^xsd:string) AnnotationAssertion( "MESH:C538209"^^xsd:string) AnnotationAssertion( "FDD"^^xsd:string) AnnotationAssertion( "HOOE"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, cataract, deafness, and dementia or psychosis"^^xsd:string) AnnotationAssertion( "familial Danish dementia"^^xsd:string) AnnotationAssertion( "heredopathia ophthalmootoencephalica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070030"^^xsd:string) AnnotationAssertion(rdfs:label "ITM2B-related cerebral amyloid angiopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21981781"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156200"^^xsd:string) AnnotationAssertion( "EFO:0009072"^^xsd:string) AnnotationAssertion( "MESH:C566947"^^xsd:string) AnnotationAssertion( "NCI:C141424"^^xsd:string) AnnotationAssertion( "MBD5 associated neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "MBD5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRD1"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 1"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 1"^^xsd:string) AnnotationAssertion( "CHROMOSOME 2q23.1 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070031"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18060736"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614113"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 2"^^xsd:string) AnnotationAssertion( "MRD2"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 2"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070032"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19012874"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612580"^^xsd:string) AnnotationAssertion( "MESH:C567241"^^xsd:string) AnnotationAssertion( "CDH15-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 3"^^xsd:string) AnnotationAssertion( "MRD3"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 3"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070033"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 3"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19012874"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612581"^^xsd:string) AnnotationAssertion( "MESH:C567240"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 4"^^xsd:string) AnnotationAssertion( "MRD4"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 4"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070034"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 4"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19196676"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612621"^^xsd:string) AnnotationAssertion( "MESH:C567234"^^xsd:string) AnnotationAssertion( "NCI:C178414"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5"^^xsd:string) AnnotationAssertion( "MRD5"^^xsd:string) AnnotationAssertion( "SYNGAP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "SYNGAP1-RELATED ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 5"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070035"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 5"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20890276"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613970"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6"^^xsd:string) AnnotationAssertion( "MRD6"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder 6, with or without seizures"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 6"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 6, with or without seizures"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070036"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK333438/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23160955"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614104"^^xsd:string) AnnotationAssertion( "NCI:C179708"^^xsd:string) AnnotationAssertion( "DYRK1A syndrome"^^xsd:string) AnnotationAssertion( "DYRK1A-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "MRD7"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 7"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 7"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070037"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 7"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21376300"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009300"^^xsd:string) AnnotationAssertion( "MIM:614254"^^xsd:string) AnnotationAssertion( "GRIN1-related disorder"^^xsd:string) AnnotationAssertion( "MRD8"^^xsd:string) AnnotationAssertion( "NDHMSD"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 8"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 8"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070038"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 8"^^xsd:string) SubClassOf( ) # Class: (NESCAV syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21376300"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614255"^^xsd:string) AnnotationAssertion( "NCI:C133742"^^xsd:string) AnnotationAssertion( "MRD9"^^xsd:string) AnnotationAssertion( "NESCAVS"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual disability 9"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 9"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 9"^^xsd:string) AnnotationAssertion( "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070039"^^xsd:string) AnnotationAssertion(rdfs:label "NESCAV syndrome"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21376300"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614256"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 10"^^xsd:string) AnnotationAssertion( "MRD10"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 10"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070040"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 10"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21376300"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614257"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11"^^xsd:string) AnnotationAssertion( "MRD11"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 11"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 11"^^xsd:string) AnnotationAssertion( "chromosome 20q11-q12 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070041"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 11"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22405089"^^xsd:string) "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. (DO)"^^xsd:string) AnnotationAssertion( "fifth digit syndrome"^^xsd:string) AnnotationAssertion( "MIM:135900"^^xsd:string) AnnotationAssertion( "ARID1B-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "ARID1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ARID1B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CSS1"^^xsd:string) AnnotationAssertion( "HHID"^^xsd:string) AnnotationAssertion( "MRD12"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 12"^^xsd:string) AnnotationAssertion( "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070042"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21076407"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614563"^^xsd:string) AnnotationAssertion( "CDCBM13"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 13"^^xsd:string) AnnotationAssertion( "MRD13"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 13"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 13, with neuronal migration defects"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation with neuronal migration defects"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 13"^^xsd:string) AnnotationAssertion( "complex cortical dysplasia with other brain malformations 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070043"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coffin-Siris syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22426308"^^xsd:string) "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614607"^^xsd:string) AnnotationAssertion( "ARID1A-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "ARID1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CSS2"^^xsd:string) AnnotationAssertion( "MRD14"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070044"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22426308"^^xsd:string) "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614608"^^xsd:string) AnnotationAssertion( "CSS3"^^xsd:string) AnnotationAssertion( "MRD15"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070045"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22426308"^^xsd:string) "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "SMARCA4-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "SMARCA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614609"^^xsd:string) AnnotationAssertion( "CSS4"^^xsd:string) AnnotationAssertion( "MRD16"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070046"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Schuurs-Hoeijmakers syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26842493"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615009"^^xsd:string) AnnotationAssertion( "NCI:C150555"^^xsd:string) AnnotationAssertion( "MRD17"^^xsd:string) AnnotationAssertion( "SHMS"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder 17"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070047"^^xsd:string) AnnotationAssertion(rdfs:label "Schuurs-Hoeijmakers syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GAND syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31949314/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615074"^^xsd:string) AnnotationAssertion( "NCI:C202606"^^xsd:string) AnnotationAssertion( "GAND"^^xsd:string) AnnotationAssertion( "GATAD2B-related disorder"^^xsd:string) AnnotationAssertion( "MRD18"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder 18"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 18"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070048"^^xsd:string) AnnotationAssertion(rdfs:label "GAND syndrome"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615075"^^xsd:string) AnnotationAssertion( "MONDO:0014035"^^xsd:string) AnnotationAssertion( "NCI:C176897"^^xsd:string) AnnotationAssertion( "CTNNB1-RELATED SYNDROMIC INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "MRD19"^^xsd:string) AnnotationAssertion( "NEDSDV"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 19"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 19"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with spastic diplegia and visual defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070049"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 19"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20513142"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613443"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS"^^xsd:string) AnnotationAssertion( "MEF2C-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MRD20"^^xsd:string) AnnotationAssertion( "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 20"^^xsd:string) AnnotationAssertion( "CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070050"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23746550"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615502"^^xsd:string) AnnotationAssertion( "CTCF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CTCF-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME"^^xsd:string) AnnotationAssertion( "MRD21"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 21"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070051"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 21"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24193349"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612337"^^xsd:string) AnnotationAssertion( "MESH:C567346"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 22"^^xsd:string) AnnotationAssertion( "MRD22"^^xsd:string) AnnotationAssertion( "ZBTB18-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ZBTB18-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 22"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070052"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 22"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24680889"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615761"^^xsd:string) AnnotationAssertion( "CORNELIA DE LANGE-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "MRD23"^^xsd:string) AnnotationAssertion( "SETD5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETD5-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 23"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070053"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 23"^^xsd:string) SubClassOf( ) # Class: (Vulto-van Silfout-de Vries syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30923367/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21076407"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "DEAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEAF1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615828"^^xsd:string) AnnotationAssertion( "IDDISBAS"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 24"^^xsd:string) AnnotationAssertion( "MRD24"^^xsd:string) AnnotationAssertion( "VSVS"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 24"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 24"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070054"^^xsd:string) AnnotationAssertion(rdfs:label "Vulto-van Silfout-de Vries syndrome"^^xsd:string) SubClassOf( ) # Class: (Xia-Gibbs syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24791903"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009015"^^xsd:string) AnnotationAssertion( "GARD:13409"^^xsd:string) AnnotationAssertion( "MIM:615829"^^xsd:string) AnnotationAssertion( "NCI:C192092"^^xsd:string) AnnotationAssertion( "AHDC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "MRD25"^^xsd:string) AnnotationAssertion( "XIGIS"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070055"^^xsd:string) AnnotationAssertion(rdfs:label "Xia-Gibbs syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23332918"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. (DO)"^^xsd:string) AnnotationAssertion( "AUTS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615834"^^xsd:string) AnnotationAssertion( "MRD26"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 26"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 26"^^xsd:string) AnnotationAssertion( "AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070056"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 26"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24886874"^^xsd:string) "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615866"^^xsd:string) AnnotationAssertion( "CSS9"^^xsd:string) AnnotationAssertion( "IDDMOH"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 27"^^xsd:string) AnnotationAssertion( "MRD27"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 27"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 27"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070057"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Helsmoortel-Van Der Aa syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24531329"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12931"^^xsd:string) AnnotationAssertion( "MIM:615873"^^xsd:string) AnnotationAssertion( "NCI:C160662"^^xsd:string) AnnotationAssertion( "ORDO:404448"^^xsd:string) AnnotationAssertion( "ADNP syndrome"^^xsd:string) AnnotationAssertion( "ADNP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADNP-related syndromic intellectual disability-autism spectrum disorder"^^xsd:string) AnnotationAssertion( "HVDAS"^^xsd:string) AnnotationAssertion( "MRD28"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070058"^^xsd:string) AnnotationAssertion(rdfs:label "Helsmoortel-Van Der Aa syndrome"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25217958"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. (DO)"^^xsd:string) AnnotationAssertion( "SETBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETBP1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616078"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29"^^xsd:string) AnnotationAssertion( "MRD29"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 29"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070059"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 29"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25217958"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13136"^^xsd:string) AnnotationAssertion( "MIM:616083"^^xsd:string) AnnotationAssertion( "MONDO:0014486"^^xsd:string) AnnotationAssertion( "MRD30"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual disability 30"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 30"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070060"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 30"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25439098"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616158"^^xsd:string) AnnotationAssertion( "MONDO:0014512"^^xsd:string) AnnotationAssertion( "ORDO:438216"^^xsd:string) AnnotationAssertion( "GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME"^^xsd:string) AnnotationAssertion( "MRD31"^^xsd:string) AnnotationAssertion( "NEDRIHF"^^xsd:string) AnnotationAssertion( "PURA SYNDROME"^^xsd:string) AnnotationAssertion( "PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 31"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 31"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070061"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 31"^^xsd:string) SubClassOf( ) # Class: (Arboleda-Tham syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25728775"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008160"^^xsd:string) AnnotationAssertion( "MIM:616268"^^xsd:string) AnnotationAssertion( "ORDO:457193"^^xsd:string) AnnotationAssertion( "ARTHS"^^xsd:string) AnnotationAssertion( "KAT6A syndrome"^^xsd:string) AnnotationAssertion( "KAT6A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KAT6A-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES"^^xsd:string) AnnotationAssertion( "MRD32"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 32"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070062"^^xsd:string) AnnotationAssertion(rdfs:label "Arboleda-Tham syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23832105"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616311"^^xsd:string) AnnotationAssertion( "MRD33"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual disability 33"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 33"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070063"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 33"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25533962"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616351"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 34"^^xsd:string) AnnotationAssertion( "MRD34"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 34"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070064"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 34"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25533962"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616355"^^xsd:string) AnnotationAssertion( "HJS1"^^xsd:string) AnnotationAssertion( "Hogue-Janssens syndrome 1"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME"^^xsd:string) AnnotationAssertion( "MRD35"^^xsd:string) AnnotationAssertion( "PPP2R5D-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 35"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070065"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 35"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25533962"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616362"^^xsd:string) AnnotationAssertion( "Houge-Janssen syndrome 2"^^xsd:string) AnnotationAssertion( "MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME"^^xsd:string) AnnotationAssertion( "MRD36"^^xsd:string) AnnotationAssertion( "PPP2R1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PPP2R1A-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "PPP2R1A-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 36"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070066"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 36"^^xsd:string) SubClassOf( ) # Class: (White-Sutton syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25533962"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009079"^^xsd:string) AnnotationAssertion( "MIM:616364"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME"^^xsd:string) AnnotationAssertion( "MRD37"^^xsd:string) AnnotationAssertion( "POGZ-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WHSUS"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070067"^^xsd:string) AnnotationAssertion(rdfs:label "White-Sutton syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24697219"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "MIM:616393"^^xsd:string) AnnotationAssertion( "MRD38"^^xsd:string) AnnotationAssertion( "PRELDS"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 38"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 38"^^xsd:string) AnnotationAssertion( "psychomotor retardation, epilepsy, and language disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070068"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 38"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616521"^^xsd:string) AnnotationAssertion( "NCI:C156309"^^xsd:string) AnnotationAssertion( "MRD39"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 39"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 39, and obesity"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 39"^^xsd:string) AnnotationAssertion( "CHROMOSOME 2p25.3 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "CHROMOSOME 2p25.3 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070069"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 39"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25533962"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616579"^^xsd:string) AnnotationAssertion( "NCI:C163754"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40"^^xsd:string) AnnotationAssertion( "MRD40"^^xsd:string) AnnotationAssertion( "NEDHILD"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 40"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 40"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070070"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 40"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25102098"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. (DO)"^^xsd:string) AnnotationAssertion( "TBL1XR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TBL1XR1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616944"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41"^^xsd:string) AnnotationAssertion( "MRD41"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 41"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070071"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 41"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27108799"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616973"^^xsd:string) AnnotationAssertion( "GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "MRD42"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 42"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070072"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 42"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27003583"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616977"^^xsd:string) AnnotationAssertion( "HIVEP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HIVEP2-related disorder"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 43"^^xsd:string) AnnotationAssertion( "MRD43"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 43"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070073"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 43"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26721934"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. (DO)"^^xsd:string) AnnotationAssertion( "TRIO-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617061"^^xsd:string) AnnotationAssertion( "MRD44"^^xsd:string) AnnotationAssertion( "Mercer-Ba syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder 44 with microcephaly"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 44"^^xsd:string) AnnotationAssertion( "autosomal dominant non-syndromic intellectual disability 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070074"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 44"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (schizophrenia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14699422"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181510"^^xsd:string) AnnotationAssertion( "SCZD1"^^xsd:string) AnnotationAssertion( "schizophrenia susceptibility locus, chromosome 5-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070077"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7490076"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603342"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED"^^xsd:string) AnnotationAssertion( "SCZD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070078"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26814963"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600511"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED"^^xsd:string) AnnotationAssertion( "SCZD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070079"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12217952"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600850"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED"^^xsd:string) AnnotationAssertion( "SCZD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070080"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15329799"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603175"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED"^^xsd:string) AnnotationAssertion( "SCZD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070081"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731535"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603013"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED"^^xsd:string) AnnotationAssertion( "SCZD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070082"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731535"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603176"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED"^^xsd:string) AnnotationAssertion( "SCZD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070083"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9246509"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603206"^^xsd:string) AnnotationAssertion( "SCZD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070084"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15197400"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604906"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED"^^xsd:string) AnnotationAssertion( "SCZD9"^^xsd:string) AnnotationAssertion( "schizophrenia 9 with or without an affective disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070085"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11001582"^^xsd:string) "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605419"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED"^^xsd:string) AnnotationAssertion( "SCZD10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070086"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12929083"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608078"^^xsd:string) AnnotationAssertion( "SCZD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED"^^xsd:string) AnnotationAssertion( "DOID:0070087"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14750073"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608543"^^xsd:string) AnnotationAssertion( "SCZD12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070088"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9012828"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613025"^^xsd:string) AnnotationAssertion( "SCZD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "schizophrenia susceptibility locus, chromosome 15q13-q14-related"^^xsd:string) AnnotationAssertion( "DOID:0070089"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18677311"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612361"^^xsd:string) AnnotationAssertion( "SCZD14"^^xsd:string) AnnotationAssertion( "schizophrenia susceptibility locus, chromosome 2q32-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070090"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20385823"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. (DO)"^^xsd:string) AnnotationAssertion( "SHANK3-related disorder"^^xsd:string) AnnotationAssertion( "MIM:613950"^^xsd:string) AnnotationAssertion( "SCZD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED"^^xsd:string) AnnotationAssertion( "DOID:0070091"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21346763"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613959"^^xsd:string) AnnotationAssertion( "SCZD16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070092"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23341099"^^xsd:string) "A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615232"^^xsd:string) AnnotationAssertion( "SCZD18"^^xsd:string) AnnotationAssertion( "schizophrenia susceptibility 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chromosome 7q36.3 duplication syndrome, 362-Kb"^^xsd:string) AnnotationAssertion( "DOID:0070093"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculocutaneous albinism type IA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8477259"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203100"^^xsd:string) AnnotationAssertion( "MESH:C537728"^^xsd:string) AnnotationAssertion( "NCI:C168731"^^xsd:string) AnnotationAssertion( "ATN"^^xsd:string) AnnotationAssertion( "OCA1"^^xsd:string) AnnotationAssertion( "OCA1A"^^xsd:string) AnnotationAssertion( "Oculocutaneous Albinism Type 1"^^xsd:string) AnnotationAssertion( "albinism 1"^^xsd:string) AnnotationAssertion( "albinism I"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 1A"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism, type I"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism, tyrosinase negative"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070094"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type IA"^^xsd:string) SubClassOf( ) # Class: (oculocutaneous albinism type IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18925668"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606952"^^xsd:string) AnnotationAssertion( "MESH:C537729"^^xsd:string) AnnotationAssertion( "OCA1B"^^xsd:string) AnnotationAssertion( "albinism, yellow mutant type"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 1B"^^xsd:string) AnnotationAssertion( "yellow albinism"^^xsd:string) AnnotationAssertion( "OCA1-TS"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type I, temperature-sensitive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070095"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type IB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculocutaneous albinism type II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18680187"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203200"^^xsd:string) AnnotationAssertion( "OMIA:002130"^^xsd:string) AnnotationAssertion( "GARD:4038"^^xsd:string) AnnotationAssertion( "MESH:C537730"^^xsd:string) AnnotationAssertion( "Albinoidism"^^xsd:string) AnnotationAssertion( "OCA2"^^xsd:string) AnnotationAssertion( "OCA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "albinism 2"^^xsd:string) AnnotationAssertion( "albinism II"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 2"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism tyrosinase positive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALBINISM, BROWN OCULOCUTANEOUS"^^xsd:string) AnnotationAssertion( "ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF"^^xsd:string) AnnotationAssertion( "BOCA"^^xsd:string) AnnotationAssertion( "BROWN OCULOCUTANEOUS ALBINISM"^^xsd:string) AnnotationAssertion( "DOID:0070096"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type II"^^xsd:string) SubClassOf( ) # Class: (oculocutaneous albinism type III) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9345097"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203290"^^xsd:string) AnnotationAssertion( "GARD:4039"^^xsd:string) AnnotationAssertion( "MESH:C537189"^^xsd:string) AnnotationAssertion( "OCA3"^^xsd:string) AnnotationAssertion( "Oculocutaneous Albinism Type 3"^^xsd:string) AnnotationAssertion( "ROCA"^^xsd:string) AnnotationAssertion( "Rufous OCA"^^xsd:string) AnnotationAssertion( "TYRP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "albinism 3"^^xsd:string) AnnotationAssertion( "albinism III"^^xsd:string) AnnotationAssertion( "rufous oculocutaneous albinism"^^xsd:string) AnnotationAssertion( "xanthism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070097"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type III"^^xsd:string) SubClassOf( ) # Class: (oculocutaneous albinism type IV) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14722913"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606574"^^xsd:string) AnnotationAssertion( "OMIA:001821"^^xsd:string) AnnotationAssertion( "MESH:C564696"^^xsd:string) AnnotationAssertion( "OCA4"^^xsd:string) AnnotationAssertion( "SLC45A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070098"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type IV"^^xsd:string) SubClassOf( ) # Class: (oculocutaneous albinism type V) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23050561"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615312"^^xsd:string) AnnotationAssertion( "OCA5"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070099"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type V"^^xsd:string) SubClassOf( ) # Class: (oculocutaneous albinism type VII) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23395477"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615179"^^xsd:string) AnnotationAssertion( "OCA7"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism type 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070100"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type VII"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick disease type A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13696518"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19405096"^^xsd:string) "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257200"^^xsd:string) AnnotationAssertion( "SMPD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7206"^^xsd:string) AnnotationAssertion( "MESH:D052536"^^xsd:string) AnnotationAssertion( "MONDO:0009756"^^xsd:string) AnnotationAssertion( "NCI:C126561"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, acute neuronopathic form"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, acute neurovisceral form"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, neuronopathic type"^^xsd:string) AnnotationAssertion( "Niemann Pick's disease type A"^^xsd:string) AnnotationAssertion( "acid sphingomyelinase deficiency, neurovisceral type"^^xsd:string) AnnotationAssertion( "classical Niemann Pick disease"^^xsd:string) AnnotationAssertion( "neuronal cholesterol lipidoses"^^xsd:string) AnnotationAssertion( "neuronal cholesterol lipidosis"^^xsd:string) AnnotationAssertion( "sphingomyelin cholesterol lipidoses"^^xsd:string) AnnotationAssertion( "sphingomyelin lipidoses"^^xsd:string) AnnotationAssertion( "sphingomyelin lipidosis"^^xsd:string) AnnotationAssertion( "sphingomyelin/cholesterol lipidosis"^^xsd:string) AnnotationAssertion( "supraoptic vertical ophthalmoplegia"^^xsd:string) AnnotationAssertion( "supraoptic vertical ophthalmoplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070111"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick disease type A"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick disease type B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12369017"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13696518"^^xsd:string) "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564366"^^xsd:string) AnnotationAssertion( "MIM:607616"^^xsd:string) AnnotationAssertion( "SMPD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10729"^^xsd:string) AnnotationAssertion( "MESH:D052537"^^xsd:string) AnnotationAssertion( "NCI:C126866"^^xsd:string) AnnotationAssertion( "Niemann Pick Disease, Non Neuronopathic Type"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, adult non neuronopathic"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, visceral"^^xsd:string) AnnotationAssertion( "Niemann Pick's disease type B"^^xsd:string) AnnotationAssertion( "acid sphingomyelinase deficiency, visceral type"^^xsd:string) AnnotationAssertion( "sphingomyelin/cholesterol lipidosis"^^xsd:string) AnnotationAssertion( "NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION"^^xsd:string) AnnotationAssertion( "Niemann Pick's disease type E"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease, type E"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease, type F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070112"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick disease type B"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick disease type C1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11182931"^^xsd:string) "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257220"^^xsd:string) AnnotationAssertion( "NPC"^^xsd:string) AnnotationAssertion( "NPC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease, type C"^^xsd:string) AnnotationAssertion( "Niemann-Pick's disease type C"^^xsd:string) AnnotationAssertion( "GARD:7207"^^xsd:string) AnnotationAssertion( "MESH:D052556"^^xsd:string) AnnotationAssertion( "NCI:C126864"^^xsd:string) AnnotationAssertion( "NPC1"^^xsd:string) AnnotationAssertion( "Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "Niemann Pick Disease, Chronic Neuronopathic Form"^^xsd:string) AnnotationAssertion( "Niemann Pick disease, Subacute Juvenile Form"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease type C1, adult form"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease type C1, juvenile form"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease with cholesterol esterification block"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease without sphingomyelinase deficiency"^^xsd:string) AnnotationAssertion( "NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070113"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick disease type C1"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick disease type C2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17470133"^^xsd:string) "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3992"^^xsd:string) AnnotationAssertion( "MESH:C536119"^^xsd:string) AnnotationAssertion( "MIM:607625"^^xsd:string) AnnotationAssertion( "MONDO:0011873"^^xsd:string) AnnotationAssertion( "NCI:C126865"^^xsd:string) AnnotationAssertion( "NPC2"^^xsd:string) AnnotationAssertion( "NPC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Niemann-Pick disease C2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070114"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick disease type C2"^^xsd:string) SubClassOf( ) # Class: (Meckel syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16415886"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:249000"^^xsd:string) AnnotationAssertion( "MESH:C536133"^^xsd:string) AnnotationAssertion( "Gruber syndrome"^^xsd:string) AnnotationAssertion( "MES"^^xsd:string) AnnotationAssertion( "MKS"^^xsd:string) AnnotationAssertion( "MKS1"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 1"^^xsd:string) AnnotationAssertion( "Meckel syndrome type1"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 1"^^xsd:string) AnnotationAssertion( "dysencephalia splachnocystica"^^xsd:string) AnnotationAssertion( "dysencephalia splanchnocystica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070115"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20512146"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603194"^^xsd:string) AnnotationAssertion( "ICD10CM:Q61.9"^^xsd:string) AnnotationAssertion( "MESH:C536131"^^xsd:string) AnnotationAssertion( "MKS2"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 2"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070116"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16415887"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607361"^^xsd:string) AnnotationAssertion( "MESH:C536132"^^xsd:string) AnnotationAssertion( "MKS3"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 3"^^xsd:string) AnnotationAssertion( "Meckel-Gruber Syndrome, Type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070117"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564974"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611134"^^xsd:string) AnnotationAssertion( "CEP290-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C567003"^^xsd:string) AnnotationAssertion( "MKS4"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 4"^^xsd:string) AnnotationAssertion( "Meckel-Gruber Syndrome, Type 4"^^xsd:string) AnnotationAssertion( "MECKEL-LIKE CEREBRORENODIGITAL SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070118"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17558409"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611561"^^xsd:string) AnnotationAssertion( "MESH:C566915"^^xsd:string) AnnotationAssertion( "MKS5"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 5"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070119"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18513680"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612284"^^xsd:string) AnnotationAssertion( "CC2D2A-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567365"^^xsd:string) AnnotationAssertion( "MKS6"^^xsd:string) AnnotationAssertion( "Meckel syndrome, type 6"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070120"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18371931"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:267010"^^xsd:string) AnnotationAssertion( "MESH:C537756"^^xsd:string) AnnotationAssertion( "ORDO:3032"^^xsd:string) AnnotationAssertion( "Goldston syndrome"^^xsd:string) AnnotationAssertion( "MKS7"^^xsd:string) AnnotationAssertion( "Meckel like syndrome"^^xsd:string) AnnotationAssertion( "Meckel syndrome, type 7"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 7"^^xsd:string) AnnotationAssertion( "renal hepatic pancreatic dysplasia, Dandy Walker cyst"^^xsd:string) AnnotationAssertion( "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070121"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21462283"^^xsd:string) "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "TCTN2-related disorder"^^xsd:string) AnnotationAssertion( "TCTN2-related disorders"^^xsd:string) AnnotationAssertion( "MIM:613885"^^xsd:string) AnnotationAssertion( "MONDO:0013482"^^xsd:string) AnnotationAssertion( "ORDO:90674"^^xsd:string) AnnotationAssertion( "MKS8"^^xsd:string) AnnotationAssertion( "Meckel syndrome type 8"^^xsd:string) AnnotationAssertion( "Meckel-Gruber syndrome, type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070122"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 8"^^xsd:string) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2792087"^^xsd:string) "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E03.1"^^xsd:string) AnnotationAssertion( "MIM:275100"^^xsd:string) AnnotationAssertion( "CHNG4"^^xsd:string) AnnotationAssertion( "deficiency of thyroid-stimulating hormone"^^xsd:string) AnnotationAssertion( "isolated thyrotropin deficiency"^^xsd:string) AnnotationAssertion( "pituitary cretinism"^^xsd:string) AnnotationAssertion( "pituitary cretinism thyrotropin, biologically inactive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070123"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590296"^^xsd:string) "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:218700"^^xsd:string) AnnotationAssertion( "MESH:C566852"^^xsd:string) AnnotationAssertion( "Athyreotic Hypothyroidism"^^xsd:string) AnnotationAssertion( "CHNG2"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to thyroid dysgenesis"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ectopic thyroid"^^xsd:string) AnnotationAssertion( "DOID:0070124"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16418214"^^xsd:string) "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225250"^^xsd:string) AnnotationAssertion( "MESH:C567123"^^xsd:string) AnnotationAssertion( "ORDO:90673"^^xsd:string) AnnotationAssertion( "CHNG5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070125"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8954020"^^xsd:string) "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275200"^^xsd:string) AnnotationAssertion( "RDO:0015851"^^xsd:string) AnnotationAssertion( "MESH:C576976"^^xsd:string) AnnotationAssertion( "CHNG1"^^xsd:string) AnnotationAssertion( "Hypothyroidism, Nonautoimmune"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070126"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15870119"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8976668"^^xsd:string) "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609893"^^xsd:string) AnnotationAssertion( "MESH:C567935"^^xsd:string) AnnotationAssertion( "CHNG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070127"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22168587"^^xsd:string) "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614450"^^xsd:string) AnnotationAssertion( "CHNG6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070128"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IID) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string) "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617403"^^xsd:string) AnnotationAssertion( "ARCL2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070129"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IID"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant cutis laxa 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9580666"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9873040"^^xsd:string) "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0007941"^^xsd:string) AnnotationAssertion( "ELN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:123700"^^xsd:string) AnnotationAssertion( "ADCL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070130"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cutis laxa 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant cutis laxa 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26320891"^^xsd:string) "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616603"^^xsd:string) AnnotationAssertion( "RDO:9001420"^^xsd:string) AnnotationAssertion( "ADCL3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070131"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cutis laxa 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IIIA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11092761"^^xsd:string) "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219150"^^xsd:string) AnnotationAssertion( "ORDO:35664"^^xsd:string) AnnotationAssertion( "ARCL3A"^^xsd:string) AnnotationAssertion( "CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION"^^xsd:string) AnnotationAssertion( "CUTIS LAXA-CORNEAL CLOUDING-OLIGOPHRENIA SYNDROME"^^xsd:string) AnnotationAssertion( "DE BARSY SYNDROME A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070132"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IIIA"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16685658"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19664000"^^xsd:string) "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000260"^^xsd:string) AnnotationAssertion( "MIM:614437"^^xsd:string) AnnotationAssertion( "ARCL1B"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070133"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IB"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IIA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18157129"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19401719"^^xsd:string) "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219200"^^xsd:string) AnnotationAssertion( "MESH:C562632"^^xsd:string) AnnotationAssertion( "ARCL2"^^xsd:string) AnnotationAssertion( "ARCL2A"^^xsd:string) AnnotationAssertion( "CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION"^^xsd:string) AnnotationAssertion( "CUTIS LAXA WITH OSTEODYSTROPHY"^^xsd:string) AnnotationAssertion( "Cutis Laxa With Bone Dystrophy"^^xsd:string) AnnotationAssertion( "Cutis Laxa With Growth And Developmental Delay"^^xsd:string) AnnotationAssertion( "Cutis Laxa With Joint Laxity And Retarded Development"^^xsd:string) AnnotationAssertion( "cutis laxa with or without congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "cutis laxa, Debre type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070134"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IIA"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12189163"^^xsd:string) "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008262"^^xsd:string) AnnotationAssertion( "MIM:219100"^^xsd:string) AnnotationAssertion( "ARCL1"^^xsd:string) AnnotationAssertion( "ARCL1A"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa type 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070135"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IA"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant cutis laxa 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12618961"^^xsd:string) "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000259"^^xsd:string) AnnotationAssertion( "MIM:614434"^^xsd:string) AnnotationAssertion( "ADCL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070136"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cutis laxa 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IIB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19576563"^^xsd:string) "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612940"^^xsd:string) AnnotationAssertion( "PYCR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567855"^^xsd:string) AnnotationAssertion( "ORDO:357064"^^xsd:string) AnnotationAssertion( "ARCL2, progeroid type"^^xsd:string) AnnotationAssertion( "ARCL2B"^^xsd:string) AnnotationAssertion( "Cutis Laxa With Progeroid Features"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa type 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070137"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IIB"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IIIB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19648921"^^xsd:string) "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "PYCR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614438"^^xsd:string) AnnotationAssertion( "ARCL3B"^^xsd:string) AnnotationAssertion( "De Barsy syndrome B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070138"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IIIB"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19836010"^^xsd:string) "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613177"^^xsd:string) AnnotationAssertion( "MESH:C567716"^^xsd:string) AnnotationAssertion( "ORDO:221145"^^xsd:string) AnnotationAssertion( "ARCL1C"^^xsd:string) AnnotationAssertion( "URDS"^^xsd:string) AnnotationAssertion( "Urban-Rifkin-Davis syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa type 1C"^^xsd:string) AnnotationAssertion( "cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070139"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IC"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cutis laxa type IIC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string) "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003003"^^xsd:string) AnnotationAssertion( "MIM:617402"^^xsd:string) AnnotationAssertion( "ARCL2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070140"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type IIC"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive cutis laxa type II classic type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28065471"^^xsd:string) "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:357074"^^xsd:string) AnnotationAssertion( "ARCL2, Debre type"^^xsd:string) AnnotationAssertion( "ARCL2, classic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070141"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type II classic type"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant cutis laxa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18348261"^^xsd:string) "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562627"^^xsd:string) AnnotationAssertion( "ORDO:90348"^^xsd:string) AnnotationAssertion( "ADCL"^^xsd:string) AnnotationAssertion( "dominant cutis laxa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070142"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cutis laxa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cutis laxa type III) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18388779"^^xsd:string) "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. (DO)"^^xsd:string) AnnotationAssertion( "GARD:49"^^xsd:string) AnnotationAssertion( "MESH:C535990"^^xsd:string) AnnotationAssertion( "ORDO:2962"^^xsd:string) AnnotationAssertion( "De Barsy Moens Diercks syndrome"^^xsd:string) AnnotationAssertion( "De Barsy syndrome"^^xsd:string) AnnotationAssertion( "corneal clouding, cutis laxa, mental retardation"^^xsd:string) AnnotationAssertion( "cutis laxa, corneal clouding, and mental retardation"^^xsd:string) AnnotationAssertion( "cutis laxa-corneal clouding-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "progeroid syndrome of De Barsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070143"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type III"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive cutis laxa type I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19401719"^^xsd:string) "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008926"^^xsd:string) AnnotationAssertion( "RDO:0012256"^^xsd:string) AnnotationAssertion( "GARD:8480"^^xsd:string) AnnotationAssertion( "MESH:C562628"^^xsd:string) AnnotationAssertion( "ORDO:90439"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa type 1"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa, I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070144"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive cutis laxa type I"^^xsd:string) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14976160"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/77656"^^xsd:string) "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608654"^^xsd:string) AnnotationAssertion( "GARD:12328"^^xsd:string) AnnotationAssertion( "NCI:C125386"^^xsd:string) AnnotationAssertion( "NCI:C156360"^^xsd:string) AnnotationAssertion( "ORDO:608654"^^xsd:string) AnnotationAssertion( "HSAN 5"^^xsd:string) AnnotationAssertion( "HSAN Type V"^^xsd:string) AnnotationAssertion( "HSAN V"^^xsd:string) AnnotationAssertion( "HSAN5"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathy with selective loss of small myelinated fibers"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type V"^^xsd:string) AnnotationAssertion( "hereditary sensory autonomic neuropathy, type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070145"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14272277"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8696348"^^xsd:string) "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3006"^^xsd:string) AnnotationAssertion( "MIM:256800"^^xsd:string) AnnotationAssertion( "NCI:C118633"^^xsd:string) AnnotationAssertion( "ORDO:642"^^xsd:string) AnnotationAssertion( "CIPA"^^xsd:string) AnnotationAssertion( "HSAN 4"^^xsd:string) AnnotationAssertion( "HSAN IV"^^xsd:string) AnnotationAssertion( "HSAN type IV"^^xsd:string) AnnotationAssertion( "HSAN4"^^xsd:string) AnnotationAssertion( "congenital insensitivity to pain with anhidrosis"^^xsd:string) AnnotationAssertion( "congenital pain insensitivity with anhidrosis"^^xsd:string) AnnotationAssertion( "congenital sensory neuropathy with anhidrosis"^^xsd:string) AnnotationAssertion( "familial dysautonomia, type II"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy 4"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy IV"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type 4"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IV"^^xsd:string) AnnotationAssertion( "hereditary sensory autonomic neuropathy, type 4"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070146"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21820098"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000616"^^xsd:string) AnnotationAssertion( "MIM:614213"^^xsd:string) AnnotationAssertion( "HSN2C"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IIC"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy, type IIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070147"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12870133"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16311270"^^xsd:string) "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608088"^^xsd:string) AnnotationAssertion( "RDO:0013310"^^xsd:string) AnnotationAssertion( "MESH:C564296"^^xsd:string) AnnotationAssertion( "ORDO:139564"^^xsd:string) AnnotationAssertion( "HSAN with cough and gastroesophageal reflux"^^xsd:string) AnnotationAssertion( "HSAN1B"^^xsd:string) AnnotationAssertion( "HSN1B"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type I, with cough and gastroesophageal reflux"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IB"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy, type IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070148"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24036948"^^xsd:string) "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12723"^^xsd:string) AnnotationAssertion( "ICD10CM:G60.8"^^xsd:string) AnnotationAssertion( "MIM:615548"^^xsd:string) AnnotationAssertion( "NCI:C125388"^^xsd:string) AnnotationAssertion( "ORDO:391397"^^xsd:string) AnnotationAssertion( "HSAN VII"^^xsd:string) AnnotationAssertion( "HSAN7"^^xsd:string) AnnotationAssertion( "congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type VII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070149"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19838196"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24327336"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002032"^^xsd:string) AnnotationAssertion( "MIM:613115"^^xsd:string) AnnotationAssertion( "HSAN2B"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070150"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22522446"^^xsd:string) "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614653"^^xsd:string) AnnotationAssertion( "ORDO:314381"^^xsd:string) AnnotationAssertion( "HSAN VI"^^xsd:string) AnnotationAssertion( "HSAN6"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type VI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070151"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11242114"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:162400"^^xsd:string) AnnotationAssertion( "HSAN IA"^^xsd:string) AnnotationAssertion( "HSAN1A"^^xsd:string) AnnotationAssertion( "HSN IA"^^xsd:string) AnnotationAssertion( "HSN1A"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type I, severe"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type IA, severe"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IA"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type IA"^^xsd:string) AnnotationAssertion( "hereditary sensory radicular neuropathy, autosomal dominant, type 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070152"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26005867"^^xsd:string) "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616488"^^xsd:string) AnnotationAssertion( "ORDO:478664"^^xsd:string) AnnotationAssertion( "HSAN VIII"^^xsd:string) AnnotationAssertion( "HSAN8"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070153"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 1F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24459106"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615632"^^xsd:string) AnnotationAssertion( "HSN 1F"^^xsd:string) AnnotationAssertion( "HSN IF"^^xsd:string) AnnotationAssertion( "HSN1F"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type IF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070154"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 1F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14152533"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15060842"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201300"^^xsd:string) AnnotationAssertion( "HSAN IIA"^^xsd:string) AnnotationAssertion( "HSAN2A"^^xsd:string) AnnotationAssertion( "HSN IIA"^^xsd:string) AnnotationAssertion( "HSN2A"^^xsd:string) AnnotationAssertion( "acroosteolysis, Giaccai type"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IIA"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy, type IIA"^^xsd:string) AnnotationAssertion( "neurogenic acroosteolysis"^^xsd:string) AnnotationAssertion( "progressive sensory neuropathy, of children"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Morvan disease"^^xsd:string) AnnotationAssertion( "DOID:0070155"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21194679"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613708"^^xsd:string) AnnotationAssertion( "MONDO:0013381"^^xsd:string) AnnotationAssertion( "HSN1D"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type ID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070156"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20920666"^^xsd:string) "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009923"^^xsd:string) AnnotationAssertion( "MIM:613640"^^xsd:string) AnnotationAssertion( "HSAN IC"^^xsd:string) AnnotationAssertion( "HSAN1C"^^xsd:string) AnnotationAssertion( "HSN IC"^^xsd:string) AnnotationAssertion( "HSN1C"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IC"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IC, severe"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy, type IC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070157"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy type 1E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21532572"^^xsd:string) "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614116"^^xsd:string) AnnotationAssertion( "RDO:0015895"^^xsd:string) AnnotationAssertion( "GARD:11927"^^xsd:string) AnnotationAssertion( "MESH:C580162"^^xsd:string) AnnotationAssertion( "ORDO:456318"^^xsd:string) AnnotationAssertion( "DNMT1-related dementia, deafness, and sensory neuropathy"^^xsd:string) AnnotationAssertion( "HSN IE"^^xsd:string) AnnotationAssertion( "HSN1E"^^xsd:string) AnnotationAssertion( "HSNIE"^^xsd:string) AnnotationAssertion( "dementia, deafness, and sensory neuropathy"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type IE"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type IE"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy with hearing loss and dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070158"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy type 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary sensory neuropathy X-linked) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3866836"^^xsd:string) "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310470"^^xsd:string) AnnotationAssertion( "RDO:0013164"^^xsd:string) AnnotationAssertion( "MESH:C564090"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070159"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory neuropathy X-linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atypical hereditary sensory neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/191348"^^xsd:string) "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0013735"^^xsd:string) AnnotationAssertion( "MESH:C564946"^^xsd:string) AnnotationAssertion( "MIM:256860"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070160"^^xsd:string) AnnotationAssertion(rdfs:label "atypical hereditary sensory neuropathy"^^xsd:string) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21089229"^^xsd:string) "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3976"^^xsd:string) AnnotationAssertion( "MESH:C567738"^^xsd:string) AnnotationAssertion( "ORDO:970"^^xsd:string) AnnotationAssertion( "HSAN 2"^^xsd:string) AnnotationAssertion( "HSAN II"^^xsd:string) AnnotationAssertion( "HSAN2"^^xsd:string) AnnotationAssertion( "HSANII"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy, type II"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070161"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 2"^^xsd:string) SubClassOf( ) # Class: (hereditary sensory and autonomic neuropathy type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18348718"^^xsd:string) "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6635"^^xsd:string) AnnotationAssertion( "NCI:C170433"^^xsd:string) AnnotationAssertion( "ORDO:36386"^^xsd:string) AnnotationAssertion( "HSAN1"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070162"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary sensory and autonomic neuropathy type 1"^^xsd:string) SubClassOf( ) # Class: (spermatogenic failure 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28199965"^^xsd:string) "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617644"^^xsd:string) AnnotationAssertion( "SPGF21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070163"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15367911"^^xsd:string) "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108420"^^xsd:string) AnnotationAssertion( "ASG"^^xsd:string) AnnotationAssertion( "SPGF2"^^xsd:string) AnnotationAssertion( "aspermiogenesis factor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070164"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24360805"^^xsd:string) "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617576"^^xsd:string) AnnotationAssertion( "SPGF18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070165"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28552195"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617593"^^xsd:string) AnnotationAssertion( "SPGF20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070166"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17847006"^^xsd:string) "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "globozoospermia"^^xsd:string) AnnotationAssertion( "MIM:102530"^^xsd:string) AnnotationAssertion( "SPGF6"^^xsd:string) AnnotationAssertion( "acrosome malformation of spermatozoa"^^xsd:string) AnnotationAssertion( "round-headed spermatozoa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070167"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23582645"^^xsd:string) "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606766"^^xsd:string) AnnotationAssertion( "MESH:C564665"^^xsd:string) AnnotationAssertion( "SPGF3"^^xsd:string) AnnotationAssertion( "non-obstructive azoospermia"^^xsd:string) AnnotationAssertion( "nonobstructive azoospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070168"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20887963"^^xsd:string) "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613957"^^xsd:string) AnnotationAssertion( "SPGF8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070169"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28552195"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617592"^^xsd:string) AnnotationAssertion( "SPGF19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070170"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23315541"^^xsd:string) "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615413"^^xsd:string) AnnotationAssertion( "SPGF12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070171"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25899990"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616950"^^xsd:string) AnnotationAssertion( "SPGF15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070172"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19344877"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C579978"^^xsd:string) AnnotationAssertion( "MIM:612997"^^xsd:string) AnnotationAssertion( "MESH:C567832"^^xsd:string) AnnotationAssertion( "CATSPER-related nonsyndromic male infertility"^^xsd:string) AnnotationAssertion( "CATSPER1-related male infertility"^^xsd:string) AnnotationAssertion( "CATSPER1-related nonsyndromic male infertility"^^xsd:string) AnnotationAssertion( "MIAR"^^xsd:string) AnnotationAssertion( "SPGF7"^^xsd:string) AnnotationAssertion( "nonsyndromic male infertility, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070173"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26721930"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617214"^^xsd:string) AnnotationAssertion( "SPGF17"^^xsd:string) AnnotationAssertion( "male infertility due to oocyte activation failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070174"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (spermatogenic failure 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14643120"^^xsd:string) "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536875"^^xsd:string) AnnotationAssertion( "MIM:270960"^^xsd:string) AnnotationAssertion( "MONDO:0010052"^^xsd:string) AnnotationAssertion( "Arrest of Spermatogenesis"^^xsd:string) AnnotationAssertion( "Azoospermia Due To Perturbations Of Meiosis"^^xsd:string) AnnotationAssertion( "Azoospermia With Maturation Arrest"^^xsd:string) AnnotationAssertion( "SPERMATOGENESIS MATURATION ARREST"^^xsd:string) AnnotationAssertion( "SPGF4"^^xsd:string) AnnotationAssertion( "Spermatogenesis arrest"^^xsd:string) AnnotationAssertion( "EARLY SPERMATOGENESIS MATURATION ARREST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RPRGL4"^^xsd:string) AnnotationAssertion( "recurrent pregnancy loss 4"^^xsd:string) AnnotationAssertion( "DOID:0070176"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28206990"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617706"^^xsd:string) AnnotationAssertion( "SPGF22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070177"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 22"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22275165"^^xsd:string) "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614822"^^xsd:string) AnnotationAssertion( "SPGF10"^^xsd:string) AnnotationAssertion( "spermatogenic failure with defective sperm annulus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070178"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24431330"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615842"^^xsd:string) AnnotationAssertion( "SPGF14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070179"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17047026"^^xsd:string) "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615081"^^xsd:string) AnnotationAssertion( "SPGF11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070180"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28206990"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001673"^^xsd:string) AnnotationAssertion( "MIM:617707"^^xsd:string) AnnotationAssertion( "SPGF23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070181"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 23"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24431330"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615841"^^xsd:string) AnnotationAssertion( "SPGF13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070182"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17435757"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243060"^^xsd:string) AnnotationAssertion( "GARD:12385"^^xsd:string) AnnotationAssertion( "MESH:C562903"^^xsd:string) AnnotationAssertion( "ORDO:137893"^^xsd:string) AnnotationAssertion( "Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER"^^xsd:string) AnnotationAssertion( "SPGF5"^^xsd:string) AnnotationAssertion( "infertility associated with multi-tailed spermatozoa and excessive DNA"^^xsd:string) AnnotationAssertion( "infertility associated with multitailed spermatozoa and excessive DNA"^^xsd:string) AnnotationAssertion( "macrocephalic sperm head syndrome"^^xsd:string) AnnotationAssertion( "male infertility due to macrozoospermia"^^xsd:string) AnnotationAssertion( "male infertility with large-headed, multiflagellar, polyploid spermatozoa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070183"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27640305"^^xsd:string) "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617187"^^xsd:string) AnnotationAssertion( "SPGF16"^^xsd:string) AnnotationAssertion( "acephalic spermatozoa syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070184"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spermatogenic failure 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25970010"^^xsd:string) "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309120"^^xsd:string) AnnotationAssertion( "SPGFX2"^^xsd:string) AnnotationAssertion( "male infertility from defect in meiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070185"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spermatogenic failure 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Y-linked spermatogenic failure 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2603934"^^xsd:string) "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400042"^^xsd:string) AnnotationAssertion( "MESH:C537587"^^xsd:string) AnnotationAssertion( "SPGFY1"^^xsd:string) AnnotationAssertion( "Sertoli cell-only syndrome, Y-linked"^^xsd:string) AnnotationAssertion( "Sertoli cell-only syndrome, type 1"^^xsd:string) AnnotationAssertion( "Sertoli cell-only syndrome, type I"^^xsd:string) AnnotationAssertion( "Sertoli cell-only syndrome, incomplete"^^xsd:string) AnnotationAssertion( "hypospermatogenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070186"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked spermatogenic failure 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Y-linked spermatogenic failure 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19737515"^^xsd:string) "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:415000"^^xsd:string) AnnotationAssertion( "MESH:C564030"^^xsd:string) AnnotationAssertion( "NCI:C185244"^^xsd:string) AnnotationAssertion( "HYPOSPERMATOGENESIS, NONOBSTRUCTIVE, Y-LINKED"^^xsd:string) AnnotationAssertion( "SPGFY2"^^xsd:string) AnnotationAssertion( "Y-linked nonobstructive oligospermia"^^xsd:string) AnnotationAssertion( "Y-linked nonobstructive oligozoospermia"^^xsd:string) AnnotationAssertion( "Y-linked spermatogenic arrest"^^xsd:string) AnnotationAssertion( "nonobstructive azoospermia, Y-linked"^^xsd:string) AnnotationAssertion( "nonobstructive spermatogenic failure, Y-linked"^^xsd:string) AnnotationAssertion( "AZF regions"^^xsd:string) AnnotationAssertion( "azoospermia factor regions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070187"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked spermatogenic failure 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7446525"^^xsd:string) "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562902"^^xsd:string) AnnotationAssertion( "MIM:258150"^^xsd:string) AnnotationAssertion( "MONDO:0009776"^^xsd:string) AnnotationAssertion( "SPGF1"^^xsd:string) AnnotationAssertion( "oligochiasmatic infertility"^^xsd:string) AnnotationAssertion( "oligochiasmic infertility"^^xsd:string) AnnotationAssertion( "oligosynaptic infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070188"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 1"^^xsd:string) SubClassOf( ) # Class: (X-linked spermatogenic failure 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10507722"^^xsd:string) "A Sertoli cell-only syndrome characterized by X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:305700"^^xsd:string) AnnotationAssertion( "SPGFX1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070189"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spermatogenic failure 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal recessive chronic granulomatous disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7795241"^^xsd:string) "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:233710"^^xsd:string) AnnotationAssertion( "MESH:C565531"^^xsd:string) AnnotationAssertion( "CDG2"^^xsd:string) AnnotationAssertion( "CGD2"^^xsd:string) AnnotationAssertion( "NCF2 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive CGD, cytochrome B-positive, type II"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease cytochrome b-positive type II"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to NCF2 deficiency"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to deficiency of NCF-2"^^xsd:string) AnnotationAssertion( "deficiency of NCF2"^^xsd:string) AnnotationAssertion( "deficiency of P67-Phox"^^xsd:string) AnnotationAssertion( "deficiency of neutrophil cytosol factor 2"^^xsd:string) AnnotationAssertion( "neutrophil cytosol factor 2 deficiency"^^xsd:string) AnnotationAssertion( "p67-phox deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070191"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive chronic granulomatous disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive chronic granulomatous disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2770793"^^xsd:string) "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:233700"^^xsd:string) AnnotationAssertion( "MESH:C565532"^^xsd:string) AnnotationAssertion( "NCI:C154314"^^xsd:string) AnnotationAssertion( "CDG1"^^xsd:string) AnnotationAssertion( "CGD, autosomal recessive cytochrome B-positive, type I"^^xsd:string) AnnotationAssertion( "CGD1"^^xsd:string) AnnotationAssertion( "NCF1 deficiency"^^xsd:string) AnnotationAssertion( "SOC2 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease cytochrome b-positive type I"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to NCF1 deficiency"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to deficiency of NCF-1"^^xsd:string) AnnotationAssertion( "deficiency of NCF1"^^xsd:string) AnnotationAssertion( "deficiency of SOC2"^^xsd:string) AnnotationAssertion( "deficiency of neutrophil cytosol factor 1"^^xsd:string) AnnotationAssertion( "deficiency of p47-phox"^^xsd:string) AnnotationAssertion( "deficiency of soluble oxidase component II"^^xsd:string) AnnotationAssertion( "neutrophil cytosol factor 1 deficiency"^^xsd:string) AnnotationAssertion( "p47-phox deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070192"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive chronic granulomatous disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive chronic granulomatous disease 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2770793"^^xsd:string) "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:233690"^^xsd:string) AnnotationAssertion( "MESH:C565533"^^xsd:string) AnnotationAssertion( "CGD due to deficiency of the alpha subunit of cytochrome b"^^xsd:string) AnnotationAssertion( "CGD4"^^xsd:string) AnnotationAssertion( "CYBA Deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease cytochrome b-negative"^^xsd:string) AnnotationAssertion( "autosomal recessive cytochrome b-negative CGD"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to deficiency of CYBA"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070193"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive chronic granulomatous disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive chronic granulomatous disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19692703"^^xsd:string) "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613960"^^xsd:string) AnnotationAssertion( "CDG3"^^xsd:string) AnnotationAssertion( "CGD3"^^xsd:string) AnnotationAssertion( "autosomal recessive CGD, cytochrome B-positive, type III"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease cytochrome b-positive type III"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease, due to NCF4 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070194"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive chronic granulomatous disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked chronic granulomatous disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4039107"^^xsd:string) "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070190"^^xsd:string) AnnotationAssertion( "MIM:306400"^^xsd:string) AnnotationAssertion( "NCI:C154315"^^xsd:string) AnnotationAssertion( "CDGX"^^xsd:string) AnnotationAssertion( "CGDX"^^xsd:string) AnnotationAssertion( "X-linked chronic granulomatous disease, cytochrome B-negative"^^xsd:string) AnnotationAssertion( "X-linked chronic granulomatous disease, cytochrome B-positive"^^xsd:string) AnnotationAssertion( "X-linked chronic granulomatous disease, variant"^^xsd:string) AnnotationAssertion( "atypical chronic granulomatous disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070195"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked chronic granulomatous disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile-onset distal myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5834698"^^xsd:string) "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160300"^^xsd:string) AnnotationAssertion( "MESH:C563543"^^xsd:string) AnnotationAssertion( "distal myopathy with onset in infancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070196"^^xsd:string) AnnotationAssertion(rdfs:label "infantile-onset distal myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal myopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15322983"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7847377"^^xsd:string) "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001200"^^xsd:string) AnnotationAssertion( "GARD:10769"^^xsd:string) AnnotationAssertion( "MIM:160500"^^xsd:string) AnnotationAssertion( "ORDO:59135"^^xsd:string) AnnotationAssertion( "Gowers disease"^^xsd:string) AnnotationAssertion( "Laing distal myopathy"^^xsd:string) AnnotationAssertion( "Laing early-onset distal myopathy"^^xsd:string) AnnotationAssertion( "MPD1"^^xsd:string) AnnotationAssertion( "distal 1 myopathies"^^xsd:string) AnnotationAssertion( "distal myopathy type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070197"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Miyoshi muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3942856"^^xsd:string) "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9676"^^xsd:string) AnnotationAssertion( "MESH:C537480"^^xsd:string) AnnotationAssertion( "MIM:PS254130"^^xsd:string) AnnotationAssertion( "ORDO:45448"^^xsd:string) AnnotationAssertion( "Miyoshi distal myopathy"^^xsd:string) AnnotationAssertion( "Miyoshi myopathy"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy, late onset, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070198"^^xsd:string) AnnotationAssertion(rdfs:label "Miyoshi muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Miyoshi muscular dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731526"^^xsd:string) "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254130"^^xsd:string) AnnotationAssertion( "NCI:C118846"^^xsd:string) AnnotationAssertion( "MMD1"^^xsd:string) AnnotationAssertion( "Miyoshi myopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070199"^^xsd:string) AnnotationAssertion(rdfs:label "Miyoshi muscular dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Miyoshi muscular dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9673985"^^xsd:string) "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613318"^^xsd:string) AnnotationAssertion( "MESH:C567646"^^xsd:string) AnnotationAssertion( "MMD2"^^xsd:string) AnnotationAssertion( "Miyoshi Myopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070200"^^xsd:string) AnnotationAssertion(rdfs:label "Miyoshi muscular dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (Miyoshi muscular dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20096397"^^xsd:string) "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567645"^^xsd:string) AnnotationAssertion( "MIM:613319"^^xsd:string) AnnotationAssertion( "MONDO:0013222"^^xsd:string) AnnotationAssertion( "MMD3"^^xsd:string) AnnotationAssertion( "Miyoshi myopathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070201"^^xsd:string) AnnotationAssertion(rdfs:label "Miyoshi muscular dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10587585"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/170190"^^xsd:string) "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3126"^^xsd:string) AnnotationAssertion( "MIM:151660"^^xsd:string) AnnotationAssertion( "NCI:C165527"^^xsd:string) AnnotationAssertion( "ORDO:2348"^^xsd:string) AnnotationAssertion( "Dunnigan syndrome"^^xsd:string) AnnotationAssertion( "FPLD2"^^xsd:string) AnnotationAssertion( "familial lipodystrophy of limbs and lower trunk"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy Dunnigan type"^^xsd:string) AnnotationAssertion( "partial lipodystrophy, Dunnigan"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070202"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20049731"^^xsd:string) "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615238"^^xsd:string) AnnotationAssertion( "ORDO:435651"^^xsd:string) AnnotationAssertion( "CIDEC-related FPLD"^^xsd:string) AnnotationAssertion( "FPLD5"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy associated with CIDEC mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070203"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10622252"^^xsd:string) "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12600"^^xsd:string) AnnotationAssertion( "MIM:604367"^^xsd:string) AnnotationAssertion( "ORDO:79083"^^xsd:string) AnnotationAssertion( "FPLD3"^^xsd:string) AnnotationAssertion( "PPARG-related FPLD"^^xsd:string) AnnotationAssertion( "PPARG-related familial partial lipodystrophy"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy associated with PPARG mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070204"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21345103"^^xsd:string) "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12601"^^xsd:string) AnnotationAssertion( "MIM:613877"^^xsd:string) AnnotationAssertion( "ORDO:280356"^^xsd:string) AnnotationAssertion( "FPLD4"^^xsd:string) AnnotationAssertion( "PLIN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PLIN1-related FPLD"^^xsd:string) AnnotationAssertion( "PLIN1-related familial partial lipodystrophy"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy associated with PLIN1 mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070205"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24848981"^^xsd:string) "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615980"^^xsd:string) AnnotationAssertion( "ORDO:435660"^^xsd:string) AnnotationAssertion( "FPLD6"^^xsd:string) AnnotationAssertion( "LIPE-related FPLD"^^xsd:string) AnnotationAssertion( "LIPE-related familial partial lipodystrophy"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy associated with LIPE mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070206"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial partial lipodystrophy type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3712389"^^xsd:string) "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12598"^^xsd:string) AnnotationAssertion( "MIM:608600"^^xsd:string) AnnotationAssertion( "ORDO:79084"^^xsd:string) AnnotationAssertion( "FPLD1"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy, Kobberling type"^^xsd:string) AnnotationAssertion( "familial partial lipodystrophy, Köbberling type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070207"^^xsd:string) AnnotationAssertion(rdfs:label "familial partial lipodystrophy type 1"^^xsd:string) SubClassOf( ) # Class: (hereditary lymphedema IC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20537300"^^xsd:string) "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613480"^^xsd:string) AnnotationAssertion( "LMPH1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070208"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema IC"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema ID) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23410910"^^xsd:string) "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615907"^^xsd:string) AnnotationAssertion( "LMPH1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070209"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema ID"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema IA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10835628"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9817924"^^xsd:string) "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153100"^^xsd:string) AnnotationAssertion( "LMPH1A"^^xsd:string) AnnotationAssertion( "LMPHM1"^^xsd:string) AnnotationAssertion( "LYMPHATIC MALFORMATION 1"^^xsd:string) AnnotationAssertion( "MILROY DISEASE LYMPHEDEMA"^^xsd:string) AnnotationAssertion( "Nonne-Milroy lymphedema"^^xsd:string) AnnotationAssertion( "PCL"^^xsd:string) AnnotationAssertion( "early-onset primary congenital lymphedema"^^xsd:string) AnnotationAssertion( "hereditary lymphedema type I"^^xsd:string) AnnotationAssertion( "EDEMA OF THE DORSUM OF FEET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070210"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema IA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18193458"^^xsd:string) "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611944"^^xsd:string) AnnotationAssertion( "MESH:C567452"^^xsd:string) AnnotationAssertion( "LMPH1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070211"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema IB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary lymphedema I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9817924"^^xsd:string) "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.0"^^xsd:string) AnnotationAssertion( "NCI:C48829"^^xsd:string) AnnotationAssertion( "ORDO:79452"^^xsd:string) AnnotationAssertion( "LMPH1"^^xsd:string) AnnotationAssertion( "Milroy disease"^^xsd:string) AnnotationAssertion( "Milroy's disease"^^xsd:string) AnnotationAssertion( "Milroys disease"^^xsd:string) AnnotationAssertion( "Nonne-Milroy lymphedema"^^xsd:string) AnnotationAssertion( "PCL"^^xsd:string) AnnotationAssertion( "congenital primary lymphedema"^^xsd:string) AnnotationAssertion( "hereditary lymphedema 1"^^xsd:string) AnnotationAssertion( "hereditary lymphedema type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070212"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema I"^^xsd:string) SubClassOf( ) # Class: (hereditary lymphedema II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6342849"^^xsd:string) "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153200"^^xsd:string) AnnotationAssertion( "GARD:3324"^^xsd:string) AnnotationAssertion( "ICD10CM:I89.0"^^xsd:string) AnnotationAssertion( "MESH:C562467"^^xsd:string) AnnotationAssertion( "ORDO:90186"^^xsd:string) AnnotationAssertion( "LMPH2"^^xsd:string) AnnotationAssertion( "Lymphedema Praecox"^^xsd:string) AnnotationAssertion( "Meige disease"^^xsd:string) AnnotationAssertion( "Meige lymphedema"^^xsd:string) AnnotationAssertion( "late-onset lymphedema"^^xsd:string) AnnotationAssertion( "lymphedema preacox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070213"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary lymphedema II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17701893"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610021"^^xsd:string) AnnotationAssertion( "GARD:9932"^^xsd:string) AnnotationAssertion( "MESH:C538376"^^xsd:string) AnnotationAssertion( "NCI:C131839"^^xsd:string) AnnotationAssertion( "ORDO:165991"^^xsd:string) AnnotationAssertion( "EIHI"^^xsd:string) AnnotationAssertion( "HHF7"^^xsd:string) AnnotationAssertion( "exercise-induced hyperinsulinemic hypoglycemia"^^xsd:string) AnnotationAssertion( "exercise-induced hyperinsulinism"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to SLC16A1 deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to monocarboxylate transporter 1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070214"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11489939"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609975"^^xsd:string) AnnotationAssertion( "GARD:2819"^^xsd:string) AnnotationAssertion( "MESH:C566493"^^xsd:string) AnnotationAssertion( "ORDO:71212"^^xsd:string) AnnotationAssertion( "HHF4"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to SCHAD deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to glutamodehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070215"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11916951"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9435328"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602485"^^xsd:string) AnnotationAssertion( "GARD:2818"^^xsd:string) AnnotationAssertion( "MESH:C538374"^^xsd:string) AnnotationAssertion( "ORDO:79299"^^xsd:string) AnnotationAssertion( "HHF3"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia due to glucokinase deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to glucokinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070216"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8769351"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9571255"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606762"^^xsd:string) AnnotationAssertion( "GARD:9931"^^xsd:string) AnnotationAssertion( "MESH:C538375"^^xsd:string) AnnotationAssertion( "ORDO:35878"^^xsd:string) AnnotationAssertion( "HHF6"^^xsd:string) AnnotationAssertion( "HI/HA syndrome"^^xsd:string) AnnotationAssertion( "hyperinsulinism-hyperammonemia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070217"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8923010"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9356020"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601820"^^xsd:string) AnnotationAssertion( "HHF2"^^xsd:string) AnnotationAssertion( "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070218"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7005072"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7716548"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8545179"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256450"^^xsd:string) AnnotationAssertion( "CONGENITAL ISOLATED HYPERINSULINISM"^^xsd:string) AnnotationAssertion( "HHF1"^^xsd:string) AnnotationAssertion( "HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA"^^xsd:string) AnnotationAssertion( "HYPERINSULINISM, CONGENITAL"^^xsd:string) AnnotationAssertion( "HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS"^^xsd:string) AnnotationAssertion( "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY"^^xsd:string) AnnotationAssertion( "NESIDIOBLASTOSIS OF PANCREAS"^^xsd:string) AnnotationAssertion( "PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY"^^xsd:string) AnnotationAssertion( "PHHI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070219"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15161766"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566494"^^xsd:string) AnnotationAssertion( "MIM:609968"^^xsd:string) AnnotationAssertion( "MONDO:0012381"^^xsd:string) AnnotationAssertion( "ORDO:263458"^^xsd:string) AnnotationAssertion( "HHF5"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia due to INSR deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia due to insulin receptor deficiency"^^xsd:string) AnnotationAssertion( "hyperinsulinism due to INSR deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070220"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15239083"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8014759"^^xsd:string) "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS211600"^^xsd:string) AnnotationAssertion( "NCI:C84453"^^xsd:string) AnnotationAssertion( "ORDO:172"^^xsd:string) AnnotationAssertion( "PFIC; Byler disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070221"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9806540"^^xsd:string) "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601847"^^xsd:string) AnnotationAssertion( "ABCB11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2"^^xsd:string) AnnotationAssertion( "GARD:1288"^^xsd:string) AnnotationAssertion( "MESH:C535934"^^xsd:string) AnnotationAssertion( "ORDO:79304"^^xsd:string) AnnotationAssertion( "BSEP deficiency"^^xsd:string) AnnotationAssertion( "PFIC2"^^xsd:string) AnnotationAssertion( "PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070222"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9419367"^^xsd:string) "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602347"^^xsd:string) AnnotationAssertion( "GARD:1289"^^xsd:string) AnnotationAssertion( "MESH:C535935"^^xsd:string) AnnotationAssertion( "ORDO:79305"^^xsd:string) AnnotationAssertion( "ABCB4-related intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "Low gamma-GT Familial Intrahepatic Cholestasis"^^xsd:string) AnnotationAssertion( "MDR3 Deficiency"^^xsd:string) AnnotationAssertion( "PFIC3"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis 3 (PFIC 3)"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis 3 (PFIC3)"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070223"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24614073"^^xsd:string) "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "TJP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615878"^^xsd:string) AnnotationAssertion( "ORDO:480483"^^xsd:string) AnnotationAssertion( "PFIC4"^^xsd:string) AnnotationAssertion( "TJP2 deficit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis, (PFIC4-like)"^^xsd:string) AnnotationAssertion( "DOID:0070224"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26888176"^^xsd:string) "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617049"^^xsd:string) AnnotationAssertion( "ORDO:480476"^^xsd:string) AnnotationAssertion( "NR1H4 deficiency"^^xsd:string) AnnotationAssertion( "NR1H4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PFIC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070225"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial intrahepatic cholestasis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9500542"^^xsd:string) "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211600"^^xsd:string) AnnotationAssertion( "GARD:9802"^^xsd:string) AnnotationAssertion( "MESH:C535933"^^xsd:string) AnnotationAssertion( "ORDO:79306"^^xsd:string) AnnotationAssertion( "Byler disease"^^xsd:string) AnnotationAssertion( "Byler's disease"^^xsd:string) AnnotationAssertion( "FIC1 deficiency"^^xsd:string) AnnotationAssertion( "PFIC1"^^xsd:string) AnnotationAssertion( "fatal intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis type 1 (PFIC 1)"^^xsd:string) AnnotationAssertion( "progressive familial intrahepatic cholestasis type 1 (PFIC1)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070226"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial intrahepatic cholestasis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic cholestasis of pregnancy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27936482"^^xsd:string) "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009048"^^xsd:string) AnnotationAssertion( "GARD:9804"^^xsd:string) AnnotationAssertion( "MESH:C535932"^^xsd:string) AnnotationAssertion( "ORDO:69665"^^xsd:string) AnnotationAssertion( "ICP"^^xsd:string) AnnotationAssertion( "cholestasis of pregnancy"^^xsd:string) AnnotationAssertion( "familial intrahepatic cholestasis of pregnancy"^^xsd:string) AnnotationAssertion( "familial recurrent intrahepatic cholestasis of pregnancy"^^xsd:string) AnnotationAssertion( "gravidic intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "obstetric cholestasis"^^xsd:string) AnnotationAssertion( "pregnancy related cholestasis"^^xsd:string) AnnotationAssertion( "recurrent intrahepatic cholestasis of pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070227"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic cholestasis of pregnancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic cholestasis of pregnancy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15888793"^^xsd:string) "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147480"^^xsd:string) AnnotationAssertion( "ICP1"^^xsd:string) AnnotationAssertion( "pregnancy related cholestasis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070228"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic cholestasis of pregnancy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic cholestasis of pregnancy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9419367"^^xsd:string) "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000229"^^xsd:string) AnnotationAssertion( "EFO:0009150"^^xsd:string) AnnotationAssertion( "MIM:614972"^^xsd:string) AnnotationAssertion( "ICP3"^^xsd:string) AnnotationAssertion( "pregnancy related cholestasis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070229"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic cholestasis of pregnancy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign recurrent intrahepatic cholestasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23402083"^^xsd:string) "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12185"^^xsd:string) AnnotationAssertion( "MIM:PS243300"^^xsd:string) AnnotationAssertion( "NCI:C84402"^^xsd:string) AnnotationAssertion( "ORDO:65682"^^xsd:string) AnnotationAssertion( "BRIC"^^xsd:string) AnnotationAssertion( "Summerskill-Walshe-Tygstrup syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070230"^^xsd:string) AnnotationAssertion(rdfs:label "benign recurrent intrahepatic cholestasis"^^xsd:string) SubClassOf( ) # Class: (benign recurrent intrahepatic cholestasis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9500542"^^xsd:string) "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10028"^^xsd:string) AnnotationAssertion( "MIM:243300"^^xsd:string) AnnotationAssertion( "ORDO:99960"^^xsd:string) AnnotationAssertion( "BRIC type 1"^^xsd:string) AnnotationAssertion( "BRIC1"^^xsd:string) AnnotationAssertion( "Summerskill syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070231"^^xsd:string) AnnotationAssertion(rdfs:label "benign recurrent intrahepatic cholestasis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign recurrent intrahepatic cholestasis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15300568"^^xsd:string) "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "ABCB11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2"^^xsd:string) AnnotationAssertion( "GARD:10029"^^xsd:string) AnnotationAssertion( "MIM:605479"^^xsd:string) AnnotationAssertion( "ORDO:99961"^^xsd:string) AnnotationAssertion( "BRIC type 2"^^xsd:string) AnnotationAssertion( "BRIC2"^^xsd:string) AnnotationAssertion( "benign recurrent intrahepatic cholestasis 2 (BRIC2)"^^xsd:string) AnnotationAssertion( "benign recurrent intrahepatic cholestasis type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070232"^^xsd:string) AnnotationAssertion(rdfs:label "benign recurrent intrahepatic cholestasis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22772368"^^xsd:string) "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614816"^^xsd:string) AnnotationAssertion( "LDS4"^^xsd:string) AnnotationAssertion( "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070233"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Loeys-Dietz syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15235604"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15731757"^^xsd:string) "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610168"^^xsd:string) AnnotationAssertion( "EFO:0009299"^^xsd:string) AnnotationAssertion( "MESH:C537783"^^xsd:string) AnnotationAssertion( "NCI:C114768"^^xsd:string) AnnotationAssertion( "AAT3"^^xsd:string) AnnotationAssertion( "LDS2"^^xsd:string) AnnotationAssertion( "Loeys-Dietz Syndrome, Type 2"^^xsd:string) AnnotationAssertion( "Loeys-Dietz Syndrome, Type 2b"^^xsd:string) AnnotationAssertion( "Marfan syndrome, type II"^^xsd:string) AnnotationAssertion( "Marfan syndrome/Loeys-Dietz syndrome/familial thoracic aortic aneurysms and dissections"^^xsd:string) AnnotationAssertion( "familial thoracic aortic aneurysm 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "familial throacic aortic aneurysm 3"^^xsd:string) AnnotationAssertion( "DOID:0070234"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15731757"^^xsd:string) "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609192"^^xsd:string) AnnotationAssertion( "MESH:C567156"^^xsd:string) AnnotationAssertion( "AAT5"^^xsd:string) AnnotationAssertion( "Furlong syndrome"^^xsd:string) AnnotationAssertion( "LDS1"^^xsd:string) AnnotationAssertion( "Loeys-Dietz syndrome, type 2A"^^xsd:string) AnnotationAssertion( "familial thoracic aortic aneurysm 5"^^xsd:string) AnnotationAssertion( "familial throacic aortic aneurysm 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070235"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Loeys-Dietz syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23824657"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25835445"^^xsd:string) "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000012"^^xsd:string) AnnotationAssertion( "MIM:615582"^^xsd:string) AnnotationAssertion( "LDS5"^^xsd:string) AnnotationAssertion( "RNHF"^^xsd:string) AnnotationAssertion( "Reinhoff syndrome"^^xsd:string) AnnotationAssertion( "Rienhoff syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070236"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Loeys-Dietz syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21217753"^^xsd:string) "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613795"^^xsd:string) AnnotationAssertion( "ANEURYSMS-OSTEOARTHRITIS SYNDROME"^^xsd:string) AnnotationAssertion( "LDS1C"^^xsd:string) AnnotationAssertion( "LDS3"^^xsd:string) AnnotationAssertion( "LOEYS-DIETZ SYNDROME, TYPE 1C"^^xsd:string) AnnotationAssertion( "Loeys-Dietz syndrome with osteoarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070237"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz syndrome 3"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19375058"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. (DO)"^^xsd:string) AnnotationAssertion( "COQ2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:607426"^^xsd:string) AnnotationAssertion( "COQ10D1"^^xsd:string) AnnotationAssertion( "CoQ deficiency 1"^^xsd:string) AnnotationAssertion( "coenzyme Q deficiency 1"^^xsd:string) AnnotationAssertion( "primary CoQ10 deficiency 1"^^xsd:string) AnnotationAssertion( "ubiquinone deficiency 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070238"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 1"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17332895"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614651"^^xsd:string) AnnotationAssertion( "ORDO:254898"^^xsd:string) AnnotationAssertion( "COQ10D2"^^xsd:string) AnnotationAssertion( "deafness-encephaloneuropathy-obesity-valvulopathy syndrome"^^xsd:string) AnnotationAssertion( "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070239"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 2"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17186472"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614652"^^xsd:string) AnnotationAssertion( "COQ10D3"^^xsd:string) AnnotationAssertion( "PDSS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070240"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 3"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18319072"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612016"^^xsd:string) AnnotationAssertion( "GARD:10294"^^xsd:string) AnnotationAssertion( "MESH:C567436"^^xsd:string) AnnotationAssertion( "ORDO:139485"^^xsd:string) AnnotationAssertion( "COQ10D4"^^xsd:string) AnnotationAssertion( "COQ8A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCAR9"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia type 2"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070241"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19375058"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614654"^^xsd:string) AnnotationAssertion( "COQ10D5"^^xsd:string) AnnotationAssertion( "COQ9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ORDO:319678"^^xsd:string) AnnotationAssertion( "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070242"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 5"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21540551"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614650"^^xsd:string) AnnotationAssertion( "ORDO:280406"^^xsd:string) AnnotationAssertion( "COQ10D6"^^xsd:string) AnnotationAssertion( "familial steroid-resistant nephrotic syndrome with sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070243"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 6"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25658047"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616276"^^xsd:string) AnnotationAssertion( "ORDO:457185"^^xsd:string) AnnotationAssertion( "COQ10D7"^^xsd:string) AnnotationAssertion( "COQ4-related neonatal encephalomyopathy"^^xsd:string) AnnotationAssertion( "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070244"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 7"^^xsd:string) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26084283"^^xsd:string) "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616733"^^xsd:string) AnnotationAssertion( "COQ10D8"^^xsd:string) AnnotationAssertion( "coenzyme Q10 deficiency-8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070245"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 8"^^xsd:string) SubClassOf( ) # Class: (X-linked Emery-Dreifuss muscular dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8042665"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310300"^^xsd:string) AnnotationAssertion( "MESH:C535734"^^xsd:string) AnnotationAssertion( "NCI:C168730"^^xsd:string) AnnotationAssertion( "EDMD1"^^xsd:string) AnnotationAssertion( "EMD1"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 1"^^xsd:string) AnnotationAssertion( "X-linked scapuloperoneal syndrome"^^xsd:string) AnnotationAssertion( "tardive muscular dystrophy, Dreifuss-Emery type, with contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070246"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Emery-Dreifuss muscular dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10080180"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10814726"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110301"^^xsd:string) AnnotationAssertion( "MESH:D000083144"^^xsd:string) AnnotationAssertion( "MIM:181350"^^xsd:string) AnnotationAssertion( "NCI:C126745"^^xsd:string) AnnotationAssertion( "ORDO:264"^^xsd:string) AnnotationAssertion( "EDMD2"^^xsd:string) AnnotationAssertion( "EMD2"^^xsd:string) AnnotationAssertion( "Emery Dreifuss muscular dystrophy 2"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "Hauptmann-Thannhauser muscular dystrophy"^^xsd:string) AnnotationAssertion( "LGMD1B"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1B"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to lamin A/C deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle type 1B"^^xsd:string) AnnotationAssertion( "proximal muscular dystrophy type 1B"^^xsd:string) AnnotationAssertion( "scapuloilioperoneal atrophy with cardiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070247"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive Emery-Dreifuss muscular dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10739764"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616516"^^xsd:string) AnnotationAssertion( "MESH:C567633"^^xsd:string) AnnotationAssertion( "EDMD3"^^xsd:string) AnnotationAssertion( "atypical Emery-Dreifuss muscular dystrophy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070248"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive Emery-Dreifuss muscular dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Emery-Dreifuss muscular dystrophy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17761684"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612998"^^xsd:string) AnnotationAssertion( "MESH:C567831"^^xsd:string) AnnotationAssertion( "EDMD4"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 4"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 4 with variable features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070249"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Emery-Dreifuss muscular dystrophy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17761684"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612999"^^xsd:string) AnnotationAssertion( "MESH:C567830"^^xsd:string) AnnotationAssertion( "EDMD5"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 5"^^xsd:string) AnnotationAssertion( "SYNE2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070250"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked Emery-Dreifuss muscular dystrophy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18179888"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300696"^^xsd:string) AnnotationAssertion( "EDMD6"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 6"^^xsd:string) AnnotationAssertion( "X-Linked Myopathy with Postural Muscle Atrophy"^^xsd:string) AnnotationAssertion( "XMPMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070251"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Emery-Dreifuss muscular dystrophy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Emery-Dreifuss muscular dystrophy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21391237"^^xsd:string) "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614302"^^xsd:string) AnnotationAssertion( "EDMD7"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy 7, AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070252"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Emery-Dreifuss muscular dystrophy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8127054"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212066"^^xsd:string) AnnotationAssertion( "GARD:9828"^^xsd:string) AnnotationAssertion( "MESH:C535752"^^xsd:string) AnnotationAssertion( "ORDO:79329"^^xsd:string) AnnotationAssertion( "Alkuraya syndrome"^^xsd:string) AnnotationAssertion( "CDG IIA"^^xsd:string) AnnotationAssertion( "CDG2A"^^xsd:string) AnnotationAssertion( "CDGIIA"^^xsd:string) AnnotationAssertion( "CDGS2"^^xsd:string) AnnotationAssertion( "Carbohydrate-deficient glycoprotein syndrome, type 2"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome, type II"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2A"^^xsd:string) AnnotationAssertion( "mental retardation, growth retardation, prominent columella, and open mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070253"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIb) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10788335"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606056"^^xsd:string) AnnotationAssertion( "GARD:10767"^^xsd:string) AnnotationAssertion( "MESH:C565264"^^xsd:string) AnnotationAssertion( "ORDO:79330"^^xsd:string) AnnotationAssertion( "CDG IIB"^^xsd:string) AnnotationAssertion( "CDG2B"^^xsd:string) AnnotationAssertion( "CDGIIB"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2B"^^xsd:string) AnnotationAssertion( "glucosidase I deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070254"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIb"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIc) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10590041"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4634"^^xsd:string) AnnotationAssertion( "MESH:C535755"^^xsd:string) AnnotationAssertion( "MIM:266265"^^xsd:string) AnnotationAssertion( "NCI:C4690"^^xsd:string) AnnotationAssertion( "ORDO:99843"^^xsd:string) AnnotationAssertion( "CDG IIc"^^xsd:string) AnnotationAssertion( "CDG2C"^^xsd:string) AnnotationAssertion( "CDGIIc"^^xsd:string) AnnotationAssertion( "RHS"^^xsd:string) AnnotationAssertion( "Rambam Hasharon syndrome"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070255"^^xsd:string) AnnotationAssertion(rdfs:comment "Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases."^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIc"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IId) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11901181"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564625"^^xsd:string) AnnotationAssertion( "MIM:607091"^^xsd:string) AnnotationAssertion( "GARD:9841"^^xsd:string) AnnotationAssertion( "MESH:C535753"^^xsd:string) AnnotationAssertion( "ORDO:79332"^^xsd:string) AnnotationAssertion( "CDG IID"^^xsd:string) AnnotationAssertion( "CDG2D"^^xsd:string) AnnotationAssertion( "CDGIID"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IIID"^^xsd:string) AnnotationAssertion( "DOID:0070256"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IId"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIe) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15107842"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9842"^^xsd:string) AnnotationAssertion( "MESH:C535754"^^xsd:string) AnnotationAssertion( "MIM:608779"^^xsd:string) AnnotationAssertion( "MONDO:0012118"^^xsd:string) AnnotationAssertion( "ORDO:79333"^^xsd:string) AnnotationAssertion( "CDG IIE"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIe"^^xsd:string) AnnotationAssertion( "CDG2E"^^xsd:string) AnnotationAssertion( "CDGIIE"^^xsd:string) AnnotationAssertion( "CDGIIde"^^xsd:string) AnnotationAssertion( "COG7-CDG"^^xsd:string) AnnotationAssertion( "COG7-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIe"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070257"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIe"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIf) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11157507"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603585"^^xsd:string) AnnotationAssertion( "GARD:12409"^^xsd:string) AnnotationAssertion( "MESH:C567040"^^xsd:string) AnnotationAssertion( "MONDO:0011342"^^xsd:string) AnnotationAssertion( "ORDO:238459"^^xsd:string) AnnotationAssertion( "CDG IIF"^^xsd:string) AnnotationAssertion( "CDG2F"^^xsd:string) AnnotationAssertion( "CDGIIF"^^xsd:string) AnnotationAssertion( "CDGIIdf"^^xsd:string) AnnotationAssertion( "CMP-sialic acid transporter deficiency"^^xsd:string) AnnotationAssertion( "SLC35A1-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIf"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MODIFIER OF"^^xsd:string) AnnotationAssertion( "DOID:0070258"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIf"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIg) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16537452"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611209"^^xsd:string) AnnotationAssertion( "GARD:10226"^^xsd:string) AnnotationAssertion( "MESH:C535756"^^xsd:string) AnnotationAssertion( "ORDO:263508"^^xsd:string) AnnotationAssertion( "CDG IIG"^^xsd:string) AnnotationAssertion( "CDG2G"^^xsd:string) AnnotationAssertion( "CDGII/COG1 cerebrocostomandibular-like syndrome"^^xsd:string) AnnotationAssertion( "CDGIIG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIg"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070259"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIg"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIh) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17220172"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611182"^^xsd:string) AnnotationAssertion( "GARD:12411"^^xsd:string) AnnotationAssertion( "MESH:C566987"^^xsd:string) AnnotationAssertion( "ORDO:95428"^^xsd:string) AnnotationAssertion( "CDG IIIH"^^xsd:string) AnnotationAssertion( "CDG IIh"^^xsd:string) AnnotationAssertion( "CDG2H"^^xsd:string) AnnotationAssertion( "CDGIIH"^^xsd:string) AnnotationAssertion( "CDGIIdh"^^xsd:string) AnnotationAssertion( "COG8-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIh"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070260"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIh"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIi) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19690088"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12348"^^xsd:string) AnnotationAssertion( "MIM:613612"^^xsd:string) AnnotationAssertion( "MONDO:0013325"^^xsd:string) AnnotationAssertion( "ORDO:263487"^^xsd:string) AnnotationAssertion( "CDG IIi"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIi"^^xsd:string) AnnotationAssertion( "CDG2I"^^xsd:string) AnnotationAssertion( "CDGIIdi"^^xsd:string) AnnotationAssertion( "CDGIIi"^^xsd:string) AnnotationAssertion( "COG5-CDG"^^xsd:string) AnnotationAssertion( "COG5-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIi"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070261"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIj) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19494034"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12412"^^xsd:string) AnnotationAssertion( "MIM:613489"^^xsd:string) AnnotationAssertion( "ORDO:263501"^^xsd:string) AnnotationAssertion( "CDG IIj"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIj"^^xsd:string) AnnotationAssertion( "CDG2J"^^xsd:string) AnnotationAssertion( "CDGIIdj"^^xsd:string) AnnotationAssertion( "CDGIIj"^^xsd:string) AnnotationAssertion( "COG4-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIj"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2J"^^xsd:string) AnnotationAssertion( "COG4-related congenital disorder of glycosylation, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070262"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIj"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIk) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22683087"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12413"^^xsd:string) AnnotationAssertion( "MIM:614727"^^xsd:string) AnnotationAssertion( "ORDO:314667"^^xsd:string) AnnotationAssertion( "CDG IIk"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIk"^^xsd:string) AnnotationAssertion( "CDG2k"^^xsd:string) AnnotationAssertion( "CDGIIdk"^^xsd:string) AnnotationAssertion( "CDGIIk"^^xsd:string) AnnotationAssertion( "TMEM165-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIk"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2K"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070263"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIk"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIl) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20605848"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. (DO)"^^xsd:string) AnnotationAssertion( "COG6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10944"^^xsd:string) AnnotationAssertion( "MIM:614576"^^xsd:string) AnnotationAssertion( "ORDO:464443"^^xsd:string) AnnotationAssertion( "CDG IIl"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIL"^^xsd:string) AnnotationAssertion( "CDG2L"^^xsd:string) AnnotationAssertion( "CDGIIdl"^^xsd:string) AnnotationAssertion( "CDGIIl"^^xsd:string) AnnotationAssertion( "COG6-CGD"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2L"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070264"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIl"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23561849"^^xsd:string) "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080469"^^xsd:string) AnnotationAssertion( "GARD:12403"^^xsd:string) AnnotationAssertion( "MIM:300896"^^xsd:string) AnnotationAssertion( "ORDO:356961"^^xsd:string) AnnotationAssertion( "CDG IIm"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIm"^^xsd:string) AnnotationAssertion( "CDG2M"^^xsd:string) AnnotationAssertion( "CDGIIm"^^xsd:string) AnnotationAssertion( "DEE22"^^xsd:string) AnnotationAssertion( "EIEE22"^^xsd:string) AnnotationAssertion( "SLC35A2-CDG"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2M"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 22"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070265"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIn) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26637978"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000375"^^xsd:string) AnnotationAssertion( "RDO:9000405"^^xsd:string) AnnotationAssertion( "MIM:616721"^^xsd:string) AnnotationAssertion( "ORDO:468699"^^xsd:string) AnnotationAssertion( "CDG IIn"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIn"^^xsd:string) AnnotationAssertion( "CDG2N"^^xsd:string) AnnotationAssertion( "CDGIIdn"^^xsd:string) AnnotationAssertion( "CDGIIn"^^xsd:string) AnnotationAssertion( "SLC39A8-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIn"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070266"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIn"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIo) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26833332"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616828"^^xsd:string) AnnotationAssertion( "ORDO:468684"^^xsd:string) AnnotationAssertion( "CCDC115-CDG"^^xsd:string) AnnotationAssertion( "CDG IIo"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIo"^^xsd:string) AnnotationAssertion( "CDG2O"^^xsd:string) AnnotationAssertion( "CDGIIdo"^^xsd:string) AnnotationAssertion( "CDGIIo"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIo"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2O"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070267"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIp) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26833330"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0016175"^^xsd:string) AnnotationAssertion( "MIM:616829"^^xsd:string) AnnotationAssertion( "ORDO:466703"^^xsd:string) AnnotationAssertion( "CDG IIp"^^xsd:string) AnnotationAssertion( "CDG syndrome type IIp"^^xsd:string) AnnotationAssertion( "CDG2P"^^xsd:string) AnnotationAssertion( "CDGIIdp"^^xsd:string) AnnotationAssertion( "CDGIIp"^^xsd:string) AnnotationAssertion( "TMEM199-CDG"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type IIp"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2P"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070268"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIp"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation type IIq) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24784932"^^xsd:string) "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001740"^^xsd:string) AnnotationAssertion( "MIM:617395"^^xsd:string) AnnotationAssertion( "ORDO:435934"^^xsd:string) AnnotationAssertion( "CDG IIq"^^xsd:string) AnnotationAssertion( "CDG2Q"^^xsd:string) AnnotationAssertion( "CDGIIdq"^^xsd:string) AnnotationAssertion( "CDGIIq"^^xsd:string) AnnotationAssertion( "COG2-CDG"^^xsd:string) AnnotationAssertion( "COG2-related congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 2Q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070269"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation type IIq"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19098912"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613244"^^xsd:string) AnnotationAssertion( "MESH:C567685"^^xsd:string) AnnotationAssertion( "HNPCC8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070270"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lynch syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8261515"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8574961"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537261"^^xsd:string) AnnotationAssertion( "MIM:120435"^^xsd:string) AnnotationAssertion( "NCI:C6725"^^xsd:string) AnnotationAssertion( "COCA 1"^^xsd:string) AnnotationAssertion( "Colon cancer, familial nonpolyposis, type 1"^^xsd:string) AnnotationAssertion( "FCC1"^^xsd:string) AnnotationAssertion( "HNPCC1"^^xsd:string) AnnotationAssertion( "hereditary non-polyposis colon cancer type 1"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal cancer, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Lynch cancer family syndrome I"^^xsd:string) AnnotationAssertion( "Lynch syndrome I"^^xsd:string) AnnotationAssertion( "Lynch syndrome I (site-specific colonic cancer)"^^xsd:string) AnnotationAssertion( "Lynch syndrome II"^^xsd:string) AnnotationAssertion( "DOID:0070271"^^xsd:string) AnnotationAssertion(rdfs:label "Lynch syndrome 1"^^xsd:string) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9354786"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614350"^^xsd:string) AnnotationAssertion( "RDO:0012705"^^xsd:string) AnnotationAssertion( "MESH:C563456"^^xsd:string) AnnotationAssertion( "HNPCC5"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colon cancer type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070272"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 5"^^xsd:string) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590282"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614331"^^xsd:string) AnnotationAssertion( "RDO:0014516"^^xsd:string) AnnotationAssertion( "MESH:C566039"^^xsd:string) AnnotationAssertion( "HNPCC6"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colon cancer type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070273"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 6"^^xsd:string) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8128251"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609310"^^xsd:string) AnnotationAssertion( "MLH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:D055847"^^xsd:string) AnnotationAssertion( "COCA2"^^xsd:string) AnnotationAssertion( "FCC2"^^xsd:string) AnnotationAssertion( "HNPCC2"^^xsd:string) AnnotationAssertion( "Lynch cancer family syndrome 2"^^xsd:string) AnnotationAssertion( "Lynch cancer family syndrome II"^^xsd:string) AnnotationAssertion( "Lynch syndrome II"^^xsd:string) AnnotationAssertion( "familial nonpolyposis colon cancer type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070274"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 2"^^xsd:string) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8072530"^^xsd:string) "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614337"^^xsd:string) AnnotationAssertion( "RDO:0013082"^^xsd:string) AnnotationAssertion( "PMS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563971"^^xsd:string) AnnotationAssertion( "HNPCC4"^^xsd:string) AnnotationAssertion( "LYNCH SYNDROME 4"^^xsd:string) AnnotationAssertion( "LYNCH4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070275"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 4"^^xsd:string) SubClassOf( ) # Class: (hereditary nonpolyposis colorectal cancer type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12702580"^^xsd:string) "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614385"^^xsd:string) AnnotationAssertion( "RDO:0014324"^^xsd:string) AnnotationAssertion( "MESH:C565777"^^xsd:string) AnnotationAssertion( "HNPCC7"^^xsd:string) AnnotationAssertion( "MLH3-related Lynch syndrome"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal cancer-7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070276"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary nonpolyposis colorectal cancer type 7"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30043326/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26005868"^^xsd:string) "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616486"^^xsd:string) AnnotationAssertion( "MCPH15"^^xsd:string) AnnotationAssertion( "NEDMISBA"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070277"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 15"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19215732"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612703"^^xsd:string) AnnotationAssertion( "MESH:C567198"^^xsd:string) AnnotationAssertion( "MCPH7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070278"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 7"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24951542"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616402"^^xsd:string) AnnotationAssertion( "MCPH14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070279"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 14"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12355089"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567221"^^xsd:string) AnnotationAssertion( "MIM:608716"^^xsd:string) AnnotationAssertion( "MESH:C563871"^^xsd:string) AnnotationAssertion( "ASPM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCPH5"^^xsd:string) AnnotationAssertion( "primary autosomal recessive microcephaly 5 with simplified gyral pattern"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070280"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 5"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29036432"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "COPB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617800"^^xsd:string) AnnotationAssertion( "MCPH19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070281"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 19"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22521416"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614673"^^xsd:string) AnnotationAssertion( "CEP135-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCPH8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070282"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 8"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24748105"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616051"^^xsd:string) AnnotationAssertion( "MONDO:0014473"^^xsd:string) AnnotationAssertion( "CENPE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCPH13"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070283"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 13"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23918663"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616080"^^xsd:string) AnnotationAssertion( "MCPH12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070284"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 12"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12046007"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251200"^^xsd:string) AnnotationAssertion( "MESH:C565384"^^xsd:string) AnnotationAssertion( "MCPH1"^^xsd:string) AnnotationAssertion( "PCC syndrome"^^xsd:string) AnnotationAssertion( "premature chromosome condensation syndrome"^^xsd:string) AnnotationAssertion( "premature chromosome condensation with microcephaly and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070285"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 1"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15793586"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604804"^^xsd:string) AnnotationAssertion( "MESH:C565746"^^xsd:string) AnnotationAssertion( "CDK5RAP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCPH3"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070286"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 3"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23418308"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615414"^^xsd:string) AnnotationAssertion( "MCPH11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070287"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 11"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27453578"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617090"^^xsd:string) AnnotationAssertion( "MCPH17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070288"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 17"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25259927"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616681"^^xsd:string) AnnotationAssertion( "MONDO:0014730"^^xsd:string) AnnotationAssertion( "MCPH16"^^xsd:string) AnnotationAssertion( "Microcephaly 16, primary, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070289"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 16"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15793586"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608393"^^xsd:string) AnnotationAssertion( "CENPJ-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C564247"^^xsd:string) AnnotationAssertion( "MCPH6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070290"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 6"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22983954"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565792"^^xsd:string) AnnotationAssertion( "MIM:604321"^^xsd:string) AnnotationAssertion( "MONDO:0011437"^^xsd:string) AnnotationAssertion( "MCPH4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070291"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 4"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20598275"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "CEP152-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CEP152-related disorder"^^xsd:string) AnnotationAssertion( "CEP152-related disorders"^^xsd:string) AnnotationAssertion( "MIM:614852"^^xsd:string) AnnotationAssertion( "MCPH9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070292"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 9"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 2 with or without cortical malformations) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20890279"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604317"^^xsd:string) AnnotationAssertion( "MESH:C565794"^^xsd:string) AnnotationAssertion( "MCPH2"^^xsd:string) AnnotationAssertion( "WDR62-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary autosomal recessive microcephaly 2"^^xsd:string) AnnotationAssertion( "primary microcephaly 2 with or without cortical malformations"^^xsd:string) AnnotationAssertion( "MICROCEPHALY, CORTICAL MALFORMATIONS, AND INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070293"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 2 with or without cortical malformations"^^xsd:string) SubClassOf( ) # Class: (primary autosomal recessive microcephaly 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23178126"^^xsd:string) "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615095"^^xsd:string) AnnotationAssertion( "MCPH10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070294"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly 10"^^xsd:string) SubClassOf( ) # Class: (primary autosomal dominant microcephaly 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27008544"^^xsd:string) "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617520"^^xsd:string) AnnotationAssertion( "MCPH18"^^xsd:string) AnnotationAssertion( "WDFY3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070295"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal dominant microcephaly 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary autosomal recessive microcephaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15806441"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28912110"^^xsd:string) "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12117"^^xsd:string) AnnotationAssertion( "MESH:C579935"^^xsd:string) AnnotationAssertion( "MIM:PS251200"^^xsd:string) AnnotationAssertion( "ORDO:2512"^^xsd:string) AnnotationAssertion( "MCPH"^^xsd:string) AnnotationAssertion( "microcephalia vera"^^xsd:string) AnnotationAssertion( "microcephaly vera"^^xsd:string) AnnotationAssertion( "primary hereditary microcephaly"^^xsd:string) AnnotationAssertion( "true microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070296"^^xsd:string) AnnotationAssertion(rdfs:label "primary autosomal recessive microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary microcephaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28912110"^^xsd:string) "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070297"^^xsd:string) AnnotationAssertion(rdfs:label "primary microcephaly"^^xsd:string) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8528240"^^xsd:string) "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "COL9A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL9A2-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C535502"^^xsd:string) AnnotationAssertion( "MIM:600204"^^xsd:string) AnnotationAssertion( "MONDO:0010844"^^xsd:string) AnnotationAssertion( "EDM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070298"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11479597"^^xsd:string) "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607078"^^xsd:string) AnnotationAssertion( "GARD:9794"^^xsd:string) AnnotationAssertion( "MESH:C535505"^^xsd:string) AnnotationAssertion( "ORDO:93311"^^xsd:string) AnnotationAssertion( "BHMED"^^xsd:string) AnnotationAssertion( "EDM5"^^xsd:string) AnnotationAssertion( "bilateral hereditary microepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia, MATN3-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070299"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10465113"^^xsd:string) "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9793"^^xsd:string) AnnotationAssertion( "MESH:C535504"^^xsd:string) AnnotationAssertion( "MIM:226900"^^xsd:string) AnnotationAssertion( "ORDO:93307"^^xsd:string) AnnotationAssertion( "EDM4"^^xsd:string) AnnotationAssertion( "MED4"^^xsd:string) AnnotationAssertion( "Multiple epiphyseal dysplasia with bilayered patellae"^^xsd:string) AnnotationAssertion( "Multiple epiphyseal dysplasia with clubfoot"^^xsd:string) AnnotationAssertion( "Multiple epiphyseal dysplasia with double-layered patella"^^xsd:string) AnnotationAssertion( "autosomal recessive multiple epiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia with bilateral patellae"^^xsd:string) AnnotationAssertion( "polyepiphyseal dysplasia type 4"^^xsd:string) AnnotationAssertion( "rMED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070300"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11565064"^^xsd:string) "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)"^^xsd:string) AnnotationAssertion( "COL9A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL9A1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614135"^^xsd:string) AnnotationAssertion( "EDM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070301"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28742282"^^xsd:string) "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617719"^^xsd:string) AnnotationAssertion( "EDM7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070302"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7670471"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7670472"^^xsd:string) "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:132400"^^xsd:string) AnnotationAssertion( "GARD:2180"^^xsd:string) AnnotationAssertion( "MESH:C535501"^^xsd:string) AnnotationAssertion( "ORDO:93308"^^xsd:string) AnnotationAssertion( "EDM1"^^xsd:string) AnnotationAssertion( "MED1"^^xsd:string) AnnotationAssertion( "MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia, COMP-related"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related"^^xsd:string) AnnotationAssertion( "polyepiphyseal dysplasia type 1"^^xsd:string) AnnotationAssertion( "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE"^^xsd:string) AnnotationAssertion( "MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE"^^xsd:string) AnnotationAssertion( "epiphyseal dysplasia, Ribbing type"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia 1, mild"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070303"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10090888"^^xsd:string) "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600969"^^xsd:string) AnnotationAssertion( "MESH:C535503"^^xsd:string) AnnotationAssertion( "EDM3"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia 3 with or without myopathy"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia 3 with myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070304"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia due to collagen 9 anomaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10090888"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11891674"^^xsd:string) "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)"^^xsd:string) AnnotationAssertion( "ORDO:166002"^^xsd:string) AnnotationAssertion( "COL9A2-related disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070305"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia due to collagen 9 anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (post-cardiac arrest syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20395899"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=15365608"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=18963350"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=29055751"^^xsd:string) "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000080942"^^xsd:string) AnnotationAssertion( "PCAS"^^xsd:string) AnnotationAssertion( "post cardiac syndrome"^^xsd:string) AnnotationAssertion( "postresuscitation disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070306"^^xsd:string) AnnotationAssertion(rdfs:label "post-cardiac arrest syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (craniolenticulosutural dysplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034"^^xsd:string) "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607812"^^xsd:string) AnnotationAssertion( "MESH:C564332"^^xsd:string) AnnotationAssertion( "ORDO:50814"^^xsd:string) AnnotationAssertion( "Boyadjiev-Jabs syndrome"^^xsd:string) AnnotationAssertion( "CLSD"^^xsd:string) AnnotationAssertion( "cranio-lenticulo-sutural dysplasia, CLSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070307"^^xsd:string) AnnotationAssertion(rdfs:label "craniolenticulosutural dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rippling muscle disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/"^^xsd:string) "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600332"^^xsd:string) AnnotationAssertion( "MESH:C535686"^^xsd:string) AnnotationAssertion( "RMD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070308"^^xsd:string) AnnotationAssertion(rdfs:label "rippling muscle disease 1"^^xsd:string) SubClassOf( ) # Class: (absence epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15800200"^^xsd:string) "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)"^^xsd:string) AnnotationAssertion( "Absence Seizure Disorder"^^xsd:string) AnnotationAssertion( "Absence Seizure Disorders"^^xsd:string) AnnotationAssertion( "GENERALIZED NON-MOTOR (ABSENCE) SEIZURE"^^xsd:string) AnnotationAssertion( "absence epilepsies"^^xsd:string) AnnotationAssertion( "absence seizure"^^xsd:string) AnnotationAssertion( "absence seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070309"^^xsd:string) AnnotationAssertion(rdfs:label "absence epilepsy"^^xsd:string) SubClassOf( ) # Class: (drug-induced hearing loss) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=20301595"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=25629145"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=29471610"^^xsd:string) "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006324"^^xsd:string) AnnotationAssertion( "EFO:0006951"^^xsd:string) AnnotationAssertion( "MESH:D000081015"^^xsd:string) AnnotationAssertion( "ototoxicity"^^xsd:string) AnnotationAssertion( "antidepressant-induced hearing impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070310"^^xsd:string) AnnotationAssertion(rdfs:label "drug-induced hearing loss"^^xsd:string) SubClassOf( ) # Class: (oligoasthenoteratozoospermia) AnnotationAssertion(Annotation( "https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23628110"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25781171"^^xsd:string) "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. (DO)"^^xsd:string) AnnotationAssertion( "OAT"^^xsd:string) AnnotationAssertion( "oligoasthenoteratospermia"^^xsd:string) AnnotationAssertion( "oligoasthenoteratozoospermias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070311"^^xsd:string) AnnotationAssertion(rdfs:label "oligoasthenoteratozoospermia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thiamine deficiency disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string) "A nutritional deficiency disease that is characterized by low levels of thiamine. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008569"^^xsd:string) AnnotationAssertion( "MESH:D013832"^^xsd:string) AnnotationAssertion( "NCI:C34418"^^xsd:string) AnnotationAssertion( "thiamine deficiencies"^^xsd:string) AnnotationAssertion( "thiamine deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070313"^^xsd:string) AnnotationAssertion(rdfs:label "thiamine deficiency disease"^^xsd:string) SubClassOf( ) # Class: (obstructive nephropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Obstructive_uropathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24023768"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25402279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26667236"^^xsd:string) "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C120902"^^xsd:string) AnnotationAssertion( "CON"^^xsd:string) AnnotationAssertion( "congenital obstructive nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070314"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive nephropathy"^^xsd:string) SubClassOf( ) # Class: (hypoplastic right heart syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24932961"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28009100"^^xsd:string) "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2922"^^xsd:string) AnnotationAssertion( "ICD10CM:Q22.6"^^xsd:string) AnnotationAssertion( "NCI:C99053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070315"^^xsd:string) AnnotationAssertion(rdfs:label "hypoplastic right heart syndrome"^^xsd:string) SubClassOf( ) # Class: (Miura type epiphyseal chondrodysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24057292"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24259409"^^xsd:string) "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615923"^^xsd:string) AnnotationAssertion( "ORDO:329191"^^xsd:string) AnnotationAssertion( "ECDM"^^xsd:string) AnnotationAssertion( "Miura type of epiphyseal chondrodysplasia"^^xsd:string) AnnotationAssertion( "tall stature-scoliosis-macrodactyly of the great toes syndrome"^^xsd:string) AnnotationAssertion( "tall stature-scoliosis-macrodactyly of the halluces syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070316"^^xsd:string) AnnotationAssertion(rdfs:label "Miura type epiphyseal chondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (wet beriberi) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000339.htm"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string) "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E51.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070317"^^xsd:string) AnnotationAssertion(rdfs:label "wet beriberi"^^xsd:string) SubClassOf( ) # Class: (dry beriberi) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000339.htm"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string) "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E51.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070318"^^xsd:string) AnnotationAssertion(rdfs:label "dry beriberi"^^xsd:string) SubClassOf( ) # Class: (miliaria pustulosa) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Miliaria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string) "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070319"^^xsd:string) AnnotationAssertion(rdfs:label "miliaria pustulosa"^^xsd:string) SubClassOf( ) # Class: (miliaria profunda) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Miliaria"^^xsd:string) Annotation( "https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string) "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.2"^^xsd:string) AnnotationAssertion( "SNOMEDCT_US_2020_03_01:47317002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070320"^^xsd:string) AnnotationAssertion(rdfs:label "miliaria profunda"^^xsd:string) SubClassOf( ) # Class: (miliaria crystallina) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Miliaria"^^xsd:string) Annotation( "https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string) "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.1"^^xsd:string) AnnotationAssertion( "sudamina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070321"^^xsd:string) AnnotationAssertion(rdfs:label "miliaria crystallina"^^xsd:string) SubClassOf( ) # Class: (childhood hepatocellular carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17714939"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28144610"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30254403"^^xsd:string) "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9331"^^xsd:string) AnnotationAssertion( "NCI:C7955"^^xsd:string) AnnotationAssertion( "ORDO:33402"^^xsd:string) AnnotationAssertion( "pediatric hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070322"^^xsd:string) AnnotationAssertion(rdfs:label "childhood hepatocellular carcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood acute myeloid leukemia) AnnotationAssertion(Annotation( "http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acute_myeloid_leukemia"^^xsd:string) Annotation( "https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq"^^xsd:string) "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000330"^^xsd:string) AnnotationAssertion( "EFO:1001945"^^xsd:string) AnnotationAssertion( "ICD-O:M9861/3"^^xsd:string) AnnotationAssertion( "NCI:C9160"^^xsd:string) AnnotationAssertion( "childhood acute myeloid leukaemia"^^xsd:string) AnnotationAssertion( "paediatric acute myeloid leukaemia"^^xsd:string) AnnotationAssertion( "pediatric acute myeloid leukemia"^^xsd:string) AnnotationAssertion( "childhood acute myeloid leukemia with maturation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070323"^^xsd:string) AnnotationAssertion(rdfs:label "childhood acute myeloid leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (systemic Epstein-Barr virus positive T-cell lymphoma of childhood) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30931288"^^xsd:string) "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000228"^^xsd:string) AnnotationAssertion( "ICD-O:M9724/3"^^xsd:string) AnnotationAssertion( "ICDO:9724/3"^^xsd:string) AnnotationAssertion( "NCI:C80374"^^xsd:string) AnnotationAssertion( "ORDO:364033"^^xsd:string) AnnotationAssertion( "EBV-positive T-cell lymphoproliferative disorder of childhood"^^xsd:string) AnnotationAssertion( "systemic EBV-positive T-cell lymphoma of childhood"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070324"^^xsd:string) AnnotationAssertion(rdfs:label "systemic Epstein-Barr virus positive T-cell lymphoma of childhood"^^xsd:string) SubClassOf( ) # Class: (malignant childhood adrenal gland pheochromocytoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28324046"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28752085"^^xsd:string) "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9368"^^xsd:string) AnnotationAssertion( "ICD-O:M8700/3"^^xsd:string) AnnotationAssertion( "NCI:C118822"^^xsd:string) AnnotationAssertion( "malignant pediatric adrenal gland pheochromocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070325"^^xsd:string) AnnotationAssertion(rdfs:label "malignant childhood adrenal gland pheochromocytoma"^^xsd:string) SubClassOf( ) # Class: (spitzoid melanoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25666674"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25834363"^^xsd:string) "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C136825"^^xsd:string) AnnotationAssertion( "atypical spitz nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070326"^^xsd:string) AnnotationAssertion(rdfs:label "spitzoid melanoma"^^xsd:string) SubClassOf( ) # Class: (melanoma in congenital melanocytic nevus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27517357"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28078671"^^xsd:string) "A skin melanoma that arises from a congenital melanocytic nevus. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2469"^^xsd:string) AnnotationAssertion( "ICD-O:M8761/3"^^xsd:string) AnnotationAssertion( "ICDO:8761/3"^^xsd:string) AnnotationAssertion( "NCI:C48613"^^xsd:string) AnnotationAssertion( "malignant melanoma in congenital melanocytic nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070327"^^xsd:string) AnnotationAssertion(rdfs:label "melanoma in congenital melanocytic nevus"^^xsd:string) SubClassOf( ) # Class: (adult hepatocellular carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25979220"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28761617"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30254403"^^xsd:string) "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:210159"^^xsd:string) AnnotationAssertion( "NCI:C7956"^^xsd:string) AnnotationAssertion( "adult hepatoma"^^xsd:string) AnnotationAssertion( "adult liver cell carcinoma"^^xsd:string) AnnotationAssertion( "adult primary hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070328"^^xsd:string) AnnotationAssertion(rdfs:label "adult hepatocellular carcinoma"^^xsd:string) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29344903"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29950321"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698"^^xsd:string) "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13643"^^xsd:string) AnnotationAssertion( "MIM:PS603041"^^xsd:string) AnnotationAssertion( "ORDO:35698"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndromes"^^xsd:string) AnnotationAssertion( "mtDNA depletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070329"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome"^^xsd:string) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24462711"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28161430"^^xsd:string) "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12632"^^xsd:string) AnnotationAssertion( "MESH:C565304"^^xsd:string) AnnotationAssertion( "MIM:PS605711"^^xsd:string) AnnotationAssertion( "ORDO:289573"^^xsd:string) AnnotationAssertion( "MMDS"^^xsd:string) AnnotationAssertion( "fatal multiple mitochondrial dysfunction syndrome"^^xsd:string) AnnotationAssertion( "fatal multiple mitochondrial dysfunctions syndrome"^^xsd:string) AnnotationAssertion( "multiple mitochondrial dysfunctions syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070330"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 8b) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30373120"^^xsd:string) Annotation( "https://www.omim.org/entry/612075"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536350"^^xsd:string) AnnotationAssertion( "MIM:277320"^^xsd:string) AnnotationAssertion( "MIM:612075"^^xsd:string) AnnotationAssertion( "familial visceral myopathy, external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "familial visceral myopathy, with external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "intestinal pseudoobstruction with external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "oculogastrointestinal muscular dystrophy"^^xsd:string) AnnotationAssertion( "MTDPS8B"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 8B (MNGIE type)"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070331"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 8b"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29576218"^^xsd:string) Annotation( "https://www.omim.org/entry/617954"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617954"^^xsd:string) AnnotationAssertion( "MMDS6"^^xsd:string) AnnotationAssertion( "PMPCB-RELATED MITOCHONDRIAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070332"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast implant-associated anaplastic large cell lymphoma) AnnotationAssertion(Annotation( "https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31166611"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31642879"^^xsd:string) "A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070333"^^xsd:string) AnnotationAssertion(rdfs:label "breast implant-associated anaplastic large cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (vegetable allergy) AnnotationAssertion(Annotation( "https://farrp.unl.edu/informallvegetables"^^xsd:string) "A food allergy triggered by a vegetable food product. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T14:19:37Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070334"^^xsd:string) AnnotationAssertion(rdfs:label "vegetable allergy"^^xsd:string) SubClassOf( ) # Class: (celery allergy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045"^^xsd:string) "A vegetable allergy triggered by celery (Apium graveolens). (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070335"^^xsd:string) AnnotationAssertion(rdfs:label "celery allergy"^^xsd:string) SubClassOf( ) # Class: (arthrogryposis multiplex congenita-6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33376055/"^^xsd:string) "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T12:47:32Z"^^xsd:string) AnnotationAssertion( "DOID:9004972"^^xsd:string) AnnotationAssertion( "MIM:619334"^^xsd:string) AnnotationAssertion( "AMC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070336"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita-6"^^xsd:string) SubClassOf( ) # Class: (epithelial recurrent erosion dystrophy) AnnotationAssertion(Annotation( "https://www.omim.org/entry/122400"^^xsd:string) "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:122400"^^xsd:string) AnnotationAssertion( "COL17A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565155"^^xsd:string) AnnotationAssertion( "COL17A1"^^xsd:string) AnnotationAssertion( "ERED"^^xsd:string) AnnotationAssertion( "recurring hereditary corneal erosions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070337"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial recurrent erosion dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellar hypoplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebellar_hypoplasia"^^xsd:string) Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page"^^xsd:string) "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1194"^^xsd:string) AnnotationAssertion( "MESH:C562568"^^xsd:string) AnnotationAssertion( "NCI:C98890"^^xsd:string) AnnotationAssertion( "congenital cerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070338"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebellar hyplasia/atrophy, epilepsy, and global developmental delay) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31785787/"^^xsd:string) "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:213000"^^xsd:string) AnnotationAssertion( "ORDO:2246"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070339"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (classic citrullinemia) AnnotationAssertion(Annotation( "https://www.omim.org/entry/215700"^^xsd:string) "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:215700"^^xsd:string) AnnotationAssertion( "MESH:C538444"^^xsd:string) AnnotationAssertion( "NCI:C150601"^^xsd:string) AnnotationAssertion( "ORDO:247525"^^xsd:string) AnnotationAssertion( "ASS Deficiency"^^xsd:string) AnnotationAssertion( "ASS deficiencies"^^xsd:string) AnnotationAssertion( "Argininosuccinate Synthetase Deficiency"^^xsd:string) AnnotationAssertion( "CTLN1"^^xsd:string) AnnotationAssertion( "CTNL1"^^xsd:string) AnnotationAssertion( "Citrullinemia 1"^^xsd:string) AnnotationAssertion( "argininosuccinate synthase deficiency disease"^^xsd:string) AnnotationAssertion( "argininosuccinate synthetase deficiencies"^^xsd:string) AnnotationAssertion( "citrullinemia type 1"^^xsd:string) AnnotationAssertion( "citrullinemia type I"^^xsd:string) AnnotationAssertion( "classic citrullinemias"^^xsd:string) AnnotationAssertion( "classical citrullinemia"^^xsd:string) AnnotationAssertion( "classical citrullinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070340"^^xsd:string) AnnotationAssertion(rdfs:label "classic citrullinemia"^^xsd:string) SubClassOf( ) # Class: (neonatal-onset type II citrullinemia) AnnotationAssertion(Annotation( "https://www.omim.org/entry/605814"^^xsd:string) "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605814"^^xsd:string) AnnotationAssertion( "SLC25A13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536398"^^xsd:string) AnnotationAssertion( "NICCD"^^xsd:string) AnnotationAssertion( "neonatal citrullinemia"^^xsd:string) AnnotationAssertion( "neonatal citrullinemias"^^xsd:string) AnnotationAssertion( "neonatal intrahepatic cholestasis caused by citrin deficiency"^^xsd:string) AnnotationAssertion( "neonatal-onset citrullinemia type 2"^^xsd:string) AnnotationAssertion( "neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070341"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal-onset type II citrullinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult-onset type II citrullinemia) AnnotationAssertion(Annotation( "https://www.omim.org/entry/603471?search=603471"^^xsd:string) "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603471"^^xsd:string) AnnotationAssertion( "SLC25A13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C538053"^^xsd:string) AnnotationAssertion( "Adult-Onset Citrullinemia Type 2"^^xsd:string) AnnotationAssertion( "CTLN2"^^xsd:string) AnnotationAssertion( "Citrin deficiency"^^xsd:string) AnnotationAssertion( "Late-Onset Citrullinemia"^^xsd:string) AnnotationAssertion( "Late-Onset Citrullinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070342"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset type II citrullinemia"^^xsd:string) SubClassOf( ) # Class: (CSF1R-related brain malformation and osteopetrosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/"^^xsd:string) "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600329"^^xsd:string) AnnotationAssertion( "osteoporosis and infantile neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070343"^^xsd:string) AnnotationAssertion(rdfs:label "CSF1R-related brain malformation and osteopetrosis"^^xsd:string) SubClassOf( ) # Class: (ocular tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/"^^xsd:string) "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001070"^^xsd:string) AnnotationAssertion( "MESH:D014392"^^xsd:string) AnnotationAssertion( "ocular tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070344"^^xsd:string) AnnotationAssertion(rdfs:label "ocular tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vertebral anomalies and variable endocrine and T-cell dysfunction) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29726930"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-11T14:55:29Z"^^xsd:string) AnnotationAssertion( "TBX2-related condition"^^xsd:string) AnnotationAssertion( "MIM:618223"^^xsd:string) AnnotationAssertion( "VETD"^^xsd:string) AnnotationAssertion( "heterozygotes for TBX2 variants"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070345"^^xsd:string) AnnotationAssertion(rdfs:label "vertebral anomalies and variable endocrine and T-cell dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/618571"^^xsd:string) "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010561"^^xsd:string) AnnotationAssertion( "MIM:618571"^^xsd:string) AnnotationAssertion( "NDCAGF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070346"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (encephalopathy due to defective mitochondrial and peroxisomal fission 1) AnnotationAssertion(Annotation( "https://omim.org/entry/614388"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30850373"^^xsd:string) "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)"^^xsd:string) AnnotationAssertion( "DNM1L-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:614388"^^xsd:string) AnnotationAssertion( "EMPF"^^xsd:string) AnnotationAssertion( "EMPF1"^^xsd:string) AnnotationAssertion( "lethal encephalopathy due to defective mitochondrial and peroxisomal fission"^^xsd:string) AnnotationAssertion( "lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070347"^^xsd:string) AnnotationAssertion(rdfs:label "encephalopathy due to defective mitochondrial and peroxisomal fission 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal muscular atrophy with predominant lower extremity) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance"^^xsd:string) "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS158600"^^xsd:string) AnnotationAssertion( "SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070348"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy with predominant lower extremity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinal muscular atrophy with predominant lower extremity 2A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23664120/"^^xsd:string) "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "MIM:615290"^^xsd:string) AnnotationAssertion( "NCI:C191766"^^xsd:string) AnnotationAssertion( "GOWER'S MUSCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "SMALED2A"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant, 2A, AD"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070349"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy with predominant lower extremity 2A"^^xsd:string) SubClassOf( ) # Class: (spinal muscular atrophy with predominant lower extremity 2B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28635954/"^^xsd:string) "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002187"^^xsd:string) AnnotationAssertion( "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "EFO:0010264"^^xsd:string) AnnotationAssertion( "MIM:618291"^^xsd:string) AnnotationAssertion( "SMALED2B"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070350"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy with predominant lower extremity 2B"^^xsd:string) SubClassOf( ) # Class: (spinal muscular atrophy with predominant lower extremity 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20697106/"^^xsd:string) "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158600"^^xsd:string) AnnotationAssertion( "MESH:C563560"^^xsd:string) AnnotationAssertion( "NCI:C191765"^^xsd:string) AnnotationAssertion( "Kugelberg-Welander Syndrome, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "SMA-LED"^^xsd:string) AnnotationAssertion( "SMALED1"^^xsd:string) AnnotationAssertion( "Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "lower extremity-predominant spinal muscular atrophy 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "proximal juvenile spinal muscular atrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070351"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy with predominant lower extremity 1"^^xsd:string) SubClassOf( ) # Class: (stress-induced childhood-onset neurodegeneration with variable ataxia and seizures) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30100084"^^xsd:string) Annotation( "https://www.omim.org/entry/618170"^^xsd:string) "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618170"^^xsd:string) AnnotationAssertion( "CONDSIAS"^^xsd:string) AnnotationAssertion( "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070352"^^xsd:string) AnnotationAssertion(rdfs:label "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 47) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612018"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612018"^^xsd:string) AnnotationAssertion( "MESH:C567434"^^xsd:string) AnnotationAssertion( "CJMG"^^xsd:string) AnnotationAssertion( "CTRCT47"^^xsd:string) AnnotationAssertion( "juvenile cataract with microcornea"^^xsd:string) AnnotationAssertion( "juvenile cataract with microcornea and glucosuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070353"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 47"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30290152"^^xsd:string) Annotation( "https://www.omim.org/entry/618415"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001214"^^xsd:string) AnnotationAssertion( "MIM:618415"^^xsd:string) AnnotationAssertion( "CTRCT48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070354"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 48"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (overactive bladder syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11857671/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19937315/"^^xsd:string) "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:03:07Z"^^xsd:string) AnnotationAssertion( "DOID:9004837"^^xsd:string) AnnotationAssertion( "EFO:1000781"^^xsd:string) AnnotationAssertion( "ICD10CM:N32.81"^^xsd:string) AnnotationAssertion( "ICD9CM:596.51"^^xsd:string) AnnotationAssertion( "MESH:D053201"^^xsd:string) AnnotationAssertion( "OAB"^^xsd:string) AnnotationAssertion( "Overactive Bladder"^^xsd:string) AnnotationAssertion( "Overactive Detrusor"^^xsd:string) AnnotationAssertion( "Overactive Detrusor Function"^^xsd:string) AnnotationAssertion( "Overactive Urinary Bladder"^^xsd:string) AnnotationAssertion( "urge syndrome"^^xsd:string) AnnotationAssertion( "urgency-frequency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070355"^^xsd:string) AnnotationAssertion(rdfs:label "overactive bladder syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (visual impairment and progressive phthisis bulbi) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Phthisis_bulbi"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29771303"^^xsd:string) Annotation( "https://www.uniprot.org/diseases/DI-05463"^^xsd:string) "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618283"^^xsd:string) AnnotationAssertion( "VIPB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070356"^^xsd:string) AnnotationAssertion(rdfs:label "visual impairment and progressive phthisis bulbi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31732614"^^xsd:string) Annotation( "https://www.omim.org/entry/301028"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301028"^^xsd:string) AnnotationAssertion( "NPHS20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070357"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 20"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis 1) AnnotationAssertion(Annotation( "https://omim.org/entry/109720"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19458352/"^^xsd:string) "A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:45:25Z"^^xsd:string) AnnotationAssertion( "DOID:9006007"^^xsd:string) AnnotationAssertion( "MIM:109720"^^xsd:string) AnnotationAssertion( "PBC1"^^xsd:string) AnnotationAssertion( "Primary Biliary Cirrhosis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070358"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis 1"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis 2) AnnotationAssertion(Annotation( "https://omim.org/entry/613007"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19458352/"^^xsd:string) "A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:50:00Z"^^xsd:string) AnnotationAssertion( "DOID:9001188"^^xsd:string) AnnotationAssertion( "MIM:613007"^^xsd:string) AnnotationAssertion( "MESH:C567817"^^xsd:string) AnnotationAssertion( "PBC2"^^xsd:string) AnnotationAssertion( "Primary Biliary Cirrhosis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070359"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis 2"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis 3) AnnotationAssertion(Annotation( "https://omim.org/entry/613008"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19458352/"^^xsd:string) "A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:50:12Z"^^xsd:string) AnnotationAssertion( "DOID:9000199"^^xsd:string) AnnotationAssertion( "MIM:613008"^^xsd:string) AnnotationAssertion( "MESH:C567816"^^xsd:string) AnnotationAssertion( "IL12RB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PBC3"^^xsd:string) AnnotationAssertion( "Primary Biliary Cirrhosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070360"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis 3"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis 4) AnnotationAssertion(Annotation( "https://omim.org/entry/614220"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20639879/"^^xsd:string) "A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:50:24Z"^^xsd:string) AnnotationAssertion( "DOID:9007947"^^xsd:string) AnnotationAssertion( "MIM:614220"^^xsd:string) AnnotationAssertion( "PBC4"^^xsd:string) AnnotationAssertion( "Primary Biliary Cirrhosis 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070361"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis 4"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis 5) AnnotationAssertion(Annotation( "https://omim.org/entry/614221"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20639879/"^^xsd:string) "A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:50:36Z"^^xsd:string) AnnotationAssertion( "DOID:9006752"^^xsd:string) AnnotationAssertion( "MIM:614221"^^xsd:string) AnnotationAssertion( "PBC5"^^xsd:string) AnnotationAssertion( "Primary Biliary Cirrhosis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070362"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis 5"^^xsd:string) SubClassOf( ) # Class: (bradyopsia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19818506/"^^xsd:string) Annotation( "https://www.omim.org/entry/608415"^^xsd:string) "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:16:10Z"^^xsd:string) AnnotationAssertion( "DOID:9000878"^^xsd:string) AnnotationAssertion( "MIM:608415"^^xsd:string) AnnotationAssertion( "PERRS1"^^xsd:string) AnnotationAssertion( "prolonged electroretinal response suppression 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070363"^^xsd:string) AnnotationAssertion(rdfs:label "bradyopsia 1"^^xsd:string) SubClassOf( ) # Class: (bradyopsia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19818506/"^^xsd:string) Annotation( "https://www.omim.org/entry/620344"^^xsd:string) "A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:18:09Z"^^xsd:string) AnnotationAssertion( "DOID:9003661"^^xsd:string) AnnotationAssertion( "MIM:620344"^^xsd:string) AnnotationAssertion( "PERRS2"^^xsd:string) AnnotationAssertion( "prolonged electroretinal response suppression-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070364"^^xsd:string) AnnotationAssertion(rdfs:label "bradyopsia 2"^^xsd:string) SubClassOf( ) # Class: (nevoid basal cell carcinoma syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8658145/"^^xsd:string) Annotation( "https://www.omim.org/entry/109400"^^xsd:string) "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:19:53Z"^^xsd:string) AnnotationAssertion( "DOID:9005987"^^xsd:string) AnnotationAssertion( "MIM:109400"^^xsd:string) AnnotationAssertion( "MONDO:0958174"^^xsd:string) AnnotationAssertion( "BCNS1"^^xsd:string) AnnotationAssertion( "basal cell nevus syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070365"^^xsd:string) AnnotationAssertion(rdfs:label "nevoid basal cell carcinoma syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nevoid basal cell carcinoma syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19533801/"^^xsd:string) Annotation( "https://www.omim.org/entry/620343"^^xsd:string) "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:24:43Z"^^xsd:string) AnnotationAssertion( "DOID:9006702"^^xsd:string) AnnotationAssertion( "MIM:620343"^^xsd:string) AnnotationAssertion( "BCNS2"^^xsd:string) AnnotationAssertion( "NBCCS2"^^xsd:string) AnnotationAssertion( "basal cell nevus syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070366"^^xsd:string) AnnotationAssertion(rdfs:label "nevoid basal cell carcinoma syndrome 2"^^xsd:string) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12325082/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34745209/"^^xsd:string) Annotation( "https://www.omim.org/entry/620315"^^xsd:string) "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:28:07Z"^^xsd:string) AnnotationAssertion( "DOID:9005314"^^xsd:string) AnnotationAssertion( "MIM:620315"^^xsd:string) AnnotationAssertion( "ORDO:99854"^^xsd:string) AnnotationAssertion( "CLE"^^xsd:string) AnnotationAssertion( "Cree leukoencephalopathy"^^xsd:string) AnnotationAssertion( "EIF2B5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VWM5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070367"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter 5"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive chronic granulomatous disease 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30312704/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30361506/"^^xsd:string) "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T15:44:55Z"^^xsd:string) AnnotationAssertion( "DOID:9004089"^^xsd:string) AnnotationAssertion( "MIM:618935"^^xsd:string) AnnotationAssertion( "CGD5"^^xsd:string) AnnotationAssertion( "chronic granulomatous disease due to CYBC1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070368"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive chronic granulomatous disease 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (restrictive dermopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15317753"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20101687"^^xsd:string) "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T15:46:56Z"^^xsd:string) AnnotationAssertion( "ZMPSTE24-related disorder"^^xsd:string) AnnotationAssertion( "MIM:275210"^^xsd:string) AnnotationAssertion( "RSDM1"^^xsd:string) AnnotationAssertion( "lethal restrictive dermopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070369"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive dermopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (restrictive dermopathy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15317753/"^^xsd:string) "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T15:47:09Z"^^xsd:string) AnnotationAssertion( "MIM:619793"^^xsd:string) AnnotationAssertion( "RSDM2"^^xsd:string) AnnotationAssertion( "lethal restrictive dermopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070370"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive dermopathy 2"^^xsd:string) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34745209/"^^xsd:string) Annotation( "https://www.omim.org/entry/620314"^^xsd:string) "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:31:42Z"^^xsd:string) AnnotationAssertion( "DOID:9000160"^^xsd:string) AnnotationAssertion( "MIM:620314"^^xsd:string) AnnotationAssertion( "MONDO:0957872"^^xsd:string) AnnotationAssertion( "VWM4"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with vanishing white matter 4, with or without ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070371"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter 4"^^xsd:string) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34745209/"^^xsd:string) Annotation( "https://www.omim.org/entry/620313"^^xsd:string) "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:33:34Z"^^xsd:string) AnnotationAssertion( "DOID:9008859"^^xsd:string) AnnotationAssertion( "MIM:620313"^^xsd:string) AnnotationAssertion( "VWM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070372"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter 3"^^xsd:string) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34745209/"^^xsd:string) Annotation( "https://www.omim.org/entry/620312"^^xsd:string) "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:36:14Z"^^xsd:string) AnnotationAssertion( "DOID:9002009"^^xsd:string) AnnotationAssertion( "MIM:620312"^^xsd:string) AnnotationAssertion( "VWM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070373"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter 2"^^xsd:string) SubClassOf( ) # Class: (leukoencephalopathy with vanishing white matter 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34745209/"^^xsd:string) Annotation( "https://www.omim.org/entry/603896"^^xsd:string) "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:38:06Z"^^xsd:string) AnnotationAssertion( "DOID:9005348"^^xsd:string) AnnotationAssertion( "MIM:603896"^^xsd:string) AnnotationAssertion( "VWM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070374"^^xsd:string) AnnotationAssertion(rdfs:label "leukoencephalopathy with vanishing white matter 1"^^xsd:string) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 64) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29276004/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29768694/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33504645/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37090824/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:40:27Z"^^xsd:string) AnnotationAssertion( "DOID:9009181"^^xsd:string) AnnotationAssertion( "MIM:618004"^^xsd:string) AnnotationAssertion( "DEE64"^^xsd:string) AnnotationAssertion( "EIEE64"^^xsd:string) AnnotationAssertion( "RHOBTB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070375"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 64"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 31B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34172529/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T12:55:23Z"^^xsd:string) AnnotationAssertion( "MIM:620352"^^xsd:string) AnnotationAssertion( "DEE31B"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 31B, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070376"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 31B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 96) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31675180/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:07:24Z"^^xsd:string) AnnotationAssertion( "DOID:9000688"^^xsd:string) AnnotationAssertion( "MIM:619340"^^xsd:string) AnnotationAssertion( "DEE96"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070377"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 96"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 109) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34788397/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:12:10Z"^^xsd:string) AnnotationAssertion( "DOID:9006979"^^xsd:string) AnnotationAssertion( "MIM:620145"^^xsd:string) AnnotationAssertion( "DEE109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070378"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 109"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 6B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28794249/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:13:59Z"^^xsd:string) AnnotationAssertion( "DOID:9008265"^^xsd:string) AnnotationAssertion( "MIM:619317"^^xsd:string) AnnotationAssertion( "DEE6B"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 6B, non-Dravet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070379"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 6B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 85) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28166369/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31334757/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:15:46Z"^^xsd:string) AnnotationAssertion( "DOID:9008619"^^xsd:string) AnnotationAssertion( "SMC1A-RELATED COHESINOPATHY"^^xsd:string) AnnotationAssertion( "MIM:301044"^^xsd:string) AnnotationAssertion( "NCI:C202548"^^xsd:string) AnnotationAssertion( "DEE85"^^xsd:string) AnnotationAssertion( "EIEE85"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy-85 with or without midline brain defects"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 85"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 85, with or without midline brain defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070380"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 85"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 90) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33245860/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:17:21Z"^^xsd:string) AnnotationAssertion( "DOID:9000663"^^xsd:string) AnnotationAssertion( "MIM:301058"^^xsd:string) AnnotationAssertion( "DEE90"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070381"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 90"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 95) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30269814/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:19:37Z"^^xsd:string) AnnotationAssertion( "DOID:9004284"^^xsd:string) AnnotationAssertion( "MIM:618143"^^xsd:string) AnnotationAssertion( "DEE95"^^xsd:string) AnnotationAssertion( "GPI biosynthesis defect-18"^^xsd:string) AnnotationAssertion( "GPIBD18"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 95"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070382"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 95"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 97) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33131106/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:21:41Z"^^xsd:string) AnnotationAssertion( "DOID:9000553"^^xsd:string) AnnotationAssertion( "MIM:619561"^^xsd:string) AnnotationAssertion( "DEE97"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 97"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070383"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 97"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 98) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33880529/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:23:31Z"^^xsd:string) AnnotationAssertion( "DOID:9001342"^^xsd:string) AnnotationAssertion( "MIM:619605"^^xsd:string) AnnotationAssertion( "DEE98"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 98"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070384"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 98"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 99) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33880529/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:27:09Z"^^xsd:string) AnnotationAssertion( "DOID:9001126"^^xsd:string) AnnotationAssertion( "MIM:619606"^^xsd:string) AnnotationAssertion( "DEE99"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 99"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070385"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 99"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 100) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33280099/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:31:06Z"^^xsd:string) AnnotationAssertion( "DOID:9003577"^^xsd:string) AnnotationAssertion( "MIM:619777"^^xsd:string) AnnotationAssertion( "DEE100"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070386"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 100"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 101) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34611970/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:34:10Z"^^xsd:string) AnnotationAssertion( "DOID:9003569"^^xsd:string) AnnotationAssertion( "MIM:619814"^^xsd:string) AnnotationAssertion( "DEE101"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070387"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 101"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 102) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34605855/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:44:27Z"^^xsd:string) AnnotationAssertion( "DOID:9004423"^^xsd:string) AnnotationAssertion( "MIM:619881"^^xsd:string) AnnotationAssertion( "DEE102"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 102"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070388"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 102"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 103) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35314505/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:46:18Z"^^xsd:string) AnnotationAssertion( "DOID:9005278"^^xsd:string) AnnotationAssertion( "MIM:619913"^^xsd:string) AnnotationAssertion( "DEE103"^^xsd:string) AnnotationAssertion( "KCNC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070389"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 103"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 104) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34909687/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:47:54Z"^^xsd:string) AnnotationAssertion( "DOID:9001426"^^xsd:string) AnnotationAssertion( "MIM:619970"^^xsd:string) AnnotationAssertion( "DEE104"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070390"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 104"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 105) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33999436/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:49:30Z"^^xsd:string) AnnotationAssertion( "DOID:9002700"^^xsd:string) AnnotationAssertion( "MIM:619983"^^xsd:string) AnnotationAssertion( "DEE105"^^xsd:string) AnnotationAssertion( "Developmental and Epileptic Encephalopathy 105 with Hypopituitarism"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 105"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070391"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 105"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 106) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33473208/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:51:23Z"^^xsd:string) AnnotationAssertion( "DOID:9003512"^^xsd:string) AnnotationAssertion( "MIM:620028"^^xsd:string) AnnotationAssertion( "DEE106"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 106"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070392"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 106"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 107) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26235277/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28097321/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33189936/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:52:52Z"^^xsd:string) AnnotationAssertion( "DOID:9004803"^^xsd:string) AnnotationAssertion( "MIM:620033"^^xsd:string) AnnotationAssertion( "NCI:C190869"^^xsd:string) AnnotationAssertion( "DEE107"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 107"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070393"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 107"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 108) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34185323/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35095415/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:55:17Z"^^xsd:string) AnnotationAssertion( "DOID:9006521"^^xsd:string) AnnotationAssertion( "MIM:620115"^^xsd:string) AnnotationAssertion( "DEE108"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 108"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070394"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 108"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 110) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35293990/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:57:03Z"^^xsd:string) AnnotationAssertion( "DOID:9005910"^^xsd:string) AnnotationAssertion( "MIM:620149"^^xsd:string) AnnotationAssertion( "DEE110"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070395"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 110"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive leukoencephalopathy with ovarian failure) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24808023/"^^xsd:string) "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:38:22Z"^^xsd:string) AnnotationAssertion( "DOID:9006658"^^xsd:string) AnnotationAssertion( "MIM:615889"^^xsd:string) AnnotationAssertion( "LKENP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ovarioleukodystrophy"^^xsd:string) AnnotationAssertion( "DOID:0070396"^^xsd:string) AnnotationAssertion(rdfs:label "progressive leukoencephalopathy with ovarian failure"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33964137/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T13:59:24Z"^^xsd:string) AnnotationAssertion( "DOID:9000978"^^xsd:string) AnnotationAssertion( "MIM:619688"^^xsd:string) AnnotationAssertion( "HLD23"^^xsd:string) AnnotationAssertion( "Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070397"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29576217/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:01:16Z"^^xsd:string) AnnotationAssertion( "DOID:9009193"^^xsd:string) AnnotationAssertion( "MIM:617951"^^xsd:string) AnnotationAssertion( "HLD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070398"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30620337/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:02:47Z"^^xsd:string) AnnotationAssertion( "DOID:9000521"^^xsd:string) AnnotationAssertion( "MIM:618404"^^xsd:string) AnnotationAssertion( "HLD18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070399"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31587869/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33785861/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:04:36Z"^^xsd:string) AnnotationAssertion( "DOID:9006466"^^xsd:string) AnnotationAssertion( "MIM:618688"^^xsd:string) AnnotationAssertion( "HLD19"^^xsd:string) AnnotationAssertion( "TMEM63A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 19, transient infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070400"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35455965/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35953447/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:06:16Z"^^xsd:string) AnnotationAssertion( "DOID:9001632"^^xsd:string) AnnotationAssertion( "MIM:620243"^^xsd:string) AnnotationAssertion( "HLD25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070401"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33313762/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:07:46Z"^^xsd:string) AnnotationAssertion( "DOID:9000735"^^xsd:string) AnnotationAssertion( "MIM:619328"^^xsd:string) AnnotationAssertion( "NCI:C201587"^^xsd:string) AnnotationAssertion( "HLD22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070402"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35325049/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:09:05Z"^^xsd:string) AnnotationAssertion( "DOID:9008469"^^xsd:string) AnnotationAssertion( "MIM:620269"^^xsd:string) AnnotationAssertion( "Chondrodysplasia with hypomyelinating leukodystrophy"^^xsd:string) AnnotationAssertion( "HLD26"^^xsd:string) AnnotationAssertion( "Hypomyelinating leukodystrophy 26 with chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070403"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 26"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29215095/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35140751/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:10:43Z"^^xsd:string) AnnotationAssertion( "DOID:9009183"^^xsd:string) AnnotationAssertion( "MIM:618006"^^xsd:string) AnnotationAssertion( "HLD17"^^xsd:string) AnnotationAssertion( "Leukodystrophy, hypomyelinating, 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070404"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29186371/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:14:29Z"^^xsd:string) AnnotationAssertion( "DOID:9009170"^^xsd:string) AnnotationAssertion( "MIM:617964"^^xsd:string) AnnotationAssertion( "HLD16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070405"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34403372/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:17:31Z"^^xsd:string) AnnotationAssertion( "DOID:9001753"^^xsd:string) AnnotationAssertion( "MIM:619851"^^xsd:string) AnnotationAssertion( "HLD24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070406"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30584594/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:19:26Z"^^xsd:string) AnnotationAssertion( "DOID:9004862"^^xsd:string) AnnotationAssertion( "MIM:619310"^^xsd:string) AnnotationAssertion( "HLD21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070407"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hengel-Maroofian-Schols syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34022130/"^^xsd:string) "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:21:28Z"^^xsd:string) AnnotationAssertion( "DOID:9005952"^^xsd:string) AnnotationAssertion( "MIM:619641"^^xsd:string) AnnotationAssertion( "HEMARS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070408"^^xsd:string) AnnotationAssertion(rdfs:label "Hengel-Maroofian-Schols syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31168944/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:24:43Z"^^xsd:string) AnnotationAssertion( "DOID:9000809"^^xsd:string) AnnotationAssertion( "MIM:618800"^^xsd:string) AnnotationAssertion( "SCAR28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070409"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 28"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33764426/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:26:54Z"^^xsd:string) AnnotationAssertion( "DOID:9008984"^^xsd:string) AnnotationAssertion( "MIM:619389"^^xsd:string) AnnotationAssertion( "BAVAHAKA"^^xsd:string) AnnotationAssertion( "Barakat-van Ham-Kaya syndrome"^^xsd:string) AnnotationAssertion( "NEDHCA"^^xsd:string) AnnotationAssertion( "SCAR29"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with hypotonia and cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070410"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 29"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29764912/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:28:57Z"^^xsd:string) AnnotationAssertion( "DOID:9006343"^^xsd:string) AnnotationAssertion( "MIM:619405"^^xsd:string) AnnotationAssertion( "SCAR30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070411"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 30"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34161705/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:30:35Z"^^xsd:string) AnnotationAssertion( "DOID:9009088"^^xsd:string) AnnotationAssertion( "MIM:619422"^^xsd:string) AnnotationAssertion( "SCAR31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070412"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 31"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33889951/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:33:04Z"^^xsd:string) AnnotationAssertion( "DOID:9003435"^^xsd:string) AnnotationAssertion( "MIM:619862"^^xsd:string) AnnotationAssertion( "SCAR32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070413"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 32"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27863452/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:35:25Z"^^xsd:string) AnnotationAssertion( "DOID:9006060"^^xsd:string) AnnotationAssertion( "MIM:620208"^^xsd:string) AnnotationAssertion( "SCAR33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070414"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 33"^^xsd:string) SubClassOf( ) # Class: (brachycephaly, trichomegaly, and developmental delay) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28257692/"^^xsd:string) "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:36:57Z"^^xsd:string) AnnotationAssertion( "DOID:9003486"^^xsd:string) AnnotationAssertion( "MIM:617412"^^xsd:string) AnnotationAssertion( "BTDD"^^xsd:string) AnnotationAssertion( "MCINS"^^xsd:string) AnnotationAssertion( "Macinnes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070415"^^xsd:string) AnnotationAssertion(rdfs:label "brachycephaly, trichomegaly, and developmental delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Luo-Schoch-Yamamoto syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33864376/"^^xsd:string) "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:41:01Z"^^xsd:string) AnnotationAssertion( "DOID:9000444"^^xsd:string) AnnotationAssertion( "MIM:619460"^^xsd:string) AnnotationAssertion( "LUSYAM"^^xsd:string) AnnotationAssertion( "RNF2-ASSOCIATED NEURODEVELOPMENTAL CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070416"^^xsd:string) AnnotationAssertion(rdfs:label "Luo-Schoch-Yamamoto syndrome"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with speech impairment and dysmorphic facies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32346159/"^^xsd:string) "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:44:25Z"^^xsd:string) AnnotationAssertion( "DOID:9001194"^^xsd:string) AnnotationAssertion( "SETD1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619056"^^xsd:string) AnnotationAssertion( "NEDSID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070417"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with speech impairment and dysmorphic facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vertebral hypersegmentation and orofacial anomalies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31215115/"^^xsd:string) "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:48:16Z"^^xsd:string) AnnotationAssertion( "DOID:9004229"^^xsd:string) AnnotationAssertion( "MIM:619122"^^xsd:string) AnnotationAssertion( "VHO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070418"^^xsd:string) AnnotationAssertion(rdfs:label "vertebral hypersegmentation and orofacial anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acrocardiofacial syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20920258"^^xsd:string) "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T14:52:59Z"^^xsd:string) AnnotationAssertion( "DOID:9001696"^^xsd:string) AnnotationAssertion( "MIM:600460"^^xsd:string) AnnotationAssertion( "GARD:1167"^^xsd:string) AnnotationAssertion( "MESH:C563936"^^xsd:string) AnnotationAssertion( "ORDO:2008"^^xsd:string) AnnotationAssertion( "ACFS"^^xsd:string) AnnotationAssertion( "CCGE"^^xsd:string) AnnotationAssertion( "Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly"^^xsd:string) AnnotationAssertion( "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070419"^^xsd:string) AnnotationAssertion(rdfs:label "acrocardiofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental delay, hypotonia, and impaired language) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35395208/"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T16:45:31Z"^^xsd:string) AnnotationAssertion( "DOID:9000135"^^xsd:string) AnnotationAssertion( "MIM:620012"^^xsd:string) AnnotationAssertion( "DEDHIL"^^xsd:string) AnnotationAssertion( "FBXW7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070420"^^xsd:string) AnnotationAssertion(rdfs:label "developmental delay, hypotonia, and impaired language"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with spasticity and poor growth) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29868776/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T16:49:36Z"^^xsd:string) AnnotationAssertion( "DOID:9009223"^^xsd:string) AnnotationAssertion( "MIM:618076"^^xsd:string) AnnotationAssertion( "NEDSG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070421"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with spasticity and poor growth"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disability Pilorge type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35294868/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T16:54:32Z"^^xsd:string) AnnotationAssertion( "DOID:9001972"^^xsd:string) AnnotationAssertion( "MIM:301076"^^xsd:string) AnnotationAssertion( "MRXSP"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Pilorge type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070422"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability Pilorge type"^^xsd:string) SubClassOf( ) # Class: (early onset progressive encephalopathy with brain atrophy and thin corpus callosum) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27666370/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27666374/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36527993/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T16:57:10Z"^^xsd:string) AnnotationAssertion( "DOID:9000707"^^xsd:string) AnnotationAssertion( "MIM:617193"^^xsd:string) AnnotationAssertion( "NCI:C202602"^^xsd:string) AnnotationAssertion( "ORDO:496641"^^xsd:string) AnnotationAssertion( "PEBAT"^^xsd:string) AnnotationAssertion( "TBCD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070423"^^xsd:string) AnnotationAssertion(rdfs:label "early onset progressive encephalopathy with brain atrophy and thin corpus callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31944455/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36531759/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:43:32Z"^^xsd:string) AnnotationAssertion( "DOID:9002715"^^xsd:string) AnnotationAssertion( "MIM:618855"^^xsd:string) AnnotationAssertion( "ORDO:166105"^^xsd:string) AnnotationAssertion( "COXPD44"^^xsd:string) AnnotationAssertion( "FASTKD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070424"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 52) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24498631/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33457206/"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:45:20Z"^^xsd:string) AnnotationAssertion( "DOID:9005483"^^xsd:string) AnnotationAssertion( "MIM:619386"^^xsd:string) AnnotationAssertion( "COXPD52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070425"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 52"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 53) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33945503/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34038740/"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:47:04Z"^^xsd:string) AnnotationAssertion( "DOID:9005629"^^xsd:string) AnnotationAssertion( "MIM:619423"^^xsd:string) AnnotationAssertion( "COXPD53"^^xsd:string) AnnotationAssertion( "Elbracht-Isikay syndrome"^^xsd:string) AnnotationAssertion( "global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070426"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 54) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34715011/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:49:06Z"^^xsd:string) AnnotationAssertion( "DOID:9006756"^^xsd:string) AnnotationAssertion( "MIM:619737"^^xsd:string) AnnotationAssertion( "COXPD54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070427"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 54"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 55) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33602924/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:50:24Z"^^xsd:string) AnnotationAssertion( "DOID:9001375"^^xsd:string) AnnotationAssertion( "MIM:619743"^^xsd:string) AnnotationAssertion( "COXPD55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070428"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 55"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 56) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35321494/"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:51:57Z"^^xsd:string) AnnotationAssertion( "DOID:9009069"^^xsd:string) AnnotationAssertion( "MIM:620139"^^xsd:string) AnnotationAssertion( "COXPD56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070429"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 56"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 57) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35147173/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:53:27Z"^^xsd:string) AnnotationAssertion( "DOID:9001293"^^xsd:string) AnnotationAssertion( "MIM:620167"^^xsd:string) AnnotationAssertion( "COXPD57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070430"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 57"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/mabry-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26219719/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T20:55:08Z"^^xsd:string) AnnotationAssertion( "DOID:9005046"^^xsd:string) AnnotationAssertion( "MESH:C565495"^^xsd:string) AnnotationAssertion( "MIM:PS239300"^^xsd:string) AnnotationAssertion( "ORDO:247262"^^xsd:string) AnnotationAssertion( "HPMRS"^^xsd:string) AnnotationAssertion( "Mabry disease"^^xsd:string) AnnotationAssertion( "Mabry syndrome"^^xsd:string) AnnotationAssertion( "hyperphosphatasia with intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "hyperphosphatasia with mental retardation"^^xsd:string) AnnotationAssertion( "hyperphosphatasia with mental retardation syndrome"^^xsd:string) AnnotationAssertion( "hyperphosphatasia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070431"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27626616/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:01:16Z"^^xsd:string) AnnotationAssertion( "DOID:9007551"^^xsd:string) AnnotationAssertion( "MIM:616025"^^xsd:string) AnnotationAssertion( "GPIBD11"^^xsd:string) AnnotationAssertion( "HPMRS5"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 5"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070432"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20802478/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29310717/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:06:04Z"^^xsd:string) AnnotationAssertion( "DOID:9002100"^^xsd:string) AnnotationAssertion( "MIM:239300"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2"^^xsd:string) AnnotationAssertion( "GPIBD2"^^xsd:string) AnnotationAssertion( "HPMRS1"^^xsd:string) AnnotationAssertion( "HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 1"^^xsd:string) AnnotationAssertion( "Mabry syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070433"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22683086/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:07:30Z"^^xsd:string) AnnotationAssertion( "DOID:9003727"^^xsd:string) AnnotationAssertion( "MIM:614749"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6"^^xsd:string) AnnotationAssertion( "GPIBD6"^^xsd:string) AnnotationAssertion( "HPMRS2"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070434"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 2"^^xsd:string) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23561846/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23561847/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36833286/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:08:45Z"^^xsd:string) AnnotationAssertion( "DOID:9000867"^^xsd:string) AnnotationAssertion( "MIM:614207"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8"^^xsd:string) AnnotationAssertion( "GPIBD8"^^xsd:string) AnnotationAssertion( "HPMRS3"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 3"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21"^^xsd:string) AnnotationAssertion( "MRT17"^^xsd:string) AnnotationAssertion( "MRT21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070435"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 3"^^xsd:string) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24439110/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:10:01Z"^^xsd:string) AnnotationAssertion( "DOID:9007958"^^xsd:string) AnnotationAssertion( "MIM:615716"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10"^^xsd:string) AnnotationAssertion( "GPIBD10"^^xsd:string) AnnotationAssertion( "GPIBD62"^^xsd:string) AnnotationAssertion( "HPMRS4"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 4"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070436"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatasia with impaired intellectual development syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26293662/"^^xsd:string) "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:11:09Z"^^xsd:string) AnnotationAssertion( "DOID:9001811"^^xsd:string) AnnotationAssertion( "MIM:616809"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12"^^xsd:string) AnnotationAssertion( "GPIBD12"^^xsd:string) AnnotationAssertion( "GPIBD40"^^xsd:string) AnnotationAssertion( "HPMRS6"^^xsd:string) AnnotationAssertion( "Hyperphosphatasia with Mental Retardation Syndrome 6"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070437"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatasia with impaired intellectual development syndrome 6"^^xsd:string) SubClassOf( ) # Class: (retinal macular dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27496188/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35331648/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36243009"^^xsd:string) "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:12:26Z"^^xsd:string) AnnotationAssertion( "MIM:PS136550"^^xsd:string) AnnotationAssertion( "MCDR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070438"^^xsd:string) AnnotationAssertion(rdfs:label "retinal macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (North Carolina macular dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36243009"^^xsd:string) "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:15:45Z"^^xsd:string) AnnotationAssertion( "DOID:9001226"^^xsd:string) AnnotationAssertion( "MIM:136550"^^xsd:string) AnnotationAssertion( "GARD:9179"^^xsd:string) AnnotationAssertion( "MESH:C537835"^^xsd:string) AnnotationAssertion( "NCI:C168999"^^xsd:string) AnnotationAssertion( "ORDO:75327"^^xsd:string) AnnotationAssertion( "CAPED"^^xsd:string) AnnotationAssertion( "MCDR1"^^xsd:string) AnnotationAssertion( "NCMD"^^xsd:string) AnnotationAssertion( "Retinal Macular Dystrophy 1, North Carolina Type"^^xsd:string) AnnotationAssertion( "central areolar pigment epithelial dystrophy"^^xsd:string) AnnotationAssertion( "central retinal pigment epithelial dystrophy"^^xsd:string) AnnotationAssertion( "progressive foveal dystrophy"^^xsd:string) AnnotationAssertion( "retinal macular dystrophy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070439"^^xsd:string) AnnotationAssertion(rdfs:label "North Carolina macular dystrophy"^^xsd:string) SubClassOf( ) # Class: (retinal macular dystrophy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27496188/"^^xsd:string) "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:18:01Z"^^xsd:string) AnnotationAssertion( "DOID:9004386"^^xsd:string) AnnotationAssertion( "MIM:608850"^^xsd:string) AnnotationAssertion( "MCDR3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070440"^^xsd:string) AnnotationAssertion(rdfs:label "retinal macular dystrophy 3"^^xsd:string) SubClassOf( ) # Class: (retinal macular dystrophy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35331648/"^^xsd:string) "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:20:32Z"^^xsd:string) AnnotationAssertion( "DOID:9005553"^^xsd:string) AnnotationAssertion( "MIM:619977"^^xsd:string) AnnotationAssertion( "MCDR4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070441"^^xsd:string) AnnotationAssertion(rdfs:label "retinal macular dystrophy 4"^^xsd:string) SubClassOf( ) # Class: (paroxysmal nonkinesigenic dyskinesia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15937479/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26195193/"^^xsd:string) "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:22:47Z"^^xsd:string) AnnotationAssertion( "DOID:9002672"^^xsd:string) AnnotationAssertion( "MIM:609446"^^xsd:string) AnnotationAssertion( "MESH:C563719"^^xsd:string) AnnotationAssertion( "ORDO:79137"^^xsd:string) AnnotationAssertion( "Epilepsy, Generalized, with Paroxysmal Dyskinesia"^^xsd:string) AnnotationAssertion( "GEPD"^^xsd:string) AnnotationAssertion( "Generalized Epilepsy and Paroxysmal Dyskinesia"^^xsd:string) AnnotationAssertion( "PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY"^^xsd:string) AnnotationAssertion( "PNKD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070442"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal nonkinesigenic dyskinesia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with cerebellar atrophy and motor dysfunction) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33963192/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34569062/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:25:43Z"^^xsd:string) AnnotationAssertion( "DOID:9000830"^^xsd:string) AnnotationAssertion( "MIM:619333"^^xsd:string) AnnotationAssertion( "GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "NEDCAM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070443"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with language delay and seizures) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35240055/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:29:05Z"^^xsd:string) AnnotationAssertion( "DOID:9003411"^^xsd:string) AnnotationAssertion( "MIM:619908"^^xsd:string) AnnotationAssertion( "NEDLDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070444"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with language delay and seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (early-onset dystonia and/or spastic paraplegia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34636445/"^^xsd:string) "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:31:43Z"^^xsd:string) AnnotationAssertion( "DOID:9000491"^^xsd:string) AnnotationAssertion( "MIM:619681"^^xsd:string) AnnotationAssertion( "ATP5G3-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "DYTSPG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070445"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset dystonia and/or spastic paraplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27592148/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30157269/"^^xsd:string) "A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:34:46Z"^^xsd:string) AnnotationAssertion( "DOID:9008345"^^xsd:string) AnnotationAssertion( "MIM:618528"^^xsd:string) AnnotationAssertion( "MTDPS16"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 16 (hepatic type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070446"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 16B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31778857/"^^xsd:string) "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:36:36Z"^^xsd:string) AnnotationAssertion( "DOID:9002169"^^xsd:string) AnnotationAssertion( "MIM:619425"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)"^^xsd:string) AnnotationAssertion( "MTDPS16B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070447"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 16B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28973171/"^^xsd:string) "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:38:16Z"^^xsd:string) AnnotationAssertion( "DOID:9005661"^^xsd:string) AnnotationAssertion( "MIM:618567"^^xsd:string) AnnotationAssertion( "MTDPS17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070448"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29517768/"^^xsd:string) "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:39:36Z"^^xsd:string) AnnotationAssertion( "DOID:9006116"^^xsd:string) AnnotationAssertion( "MIM:618811"^^xsd:string) AnnotationAssertion( "MTDPS18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070449"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29211846/"^^xsd:string) "A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:40:52Z"^^xsd:string) AnnotationAssertion( "DOID:9006004"^^xsd:string) AnnotationAssertion( "MIM:618972"^^xsd:string) AnnotationAssertion( "MTDPS19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070450"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33855352/"^^xsd:string) "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T21:42:02Z"^^xsd:string) AnnotationAssertion( "DOID:9001068"^^xsd:string) AnnotationAssertion( "MIM:619780"^^xsd:string) AnnotationAssertion( "MTDPS20"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 20 (MNGIE type)"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070451"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 20"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (xanthinuria type I) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9153281/"^^xsd:string) "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:24:27Z"^^xsd:string) AnnotationAssertion( "DOID:9008241"^^xsd:string) AnnotationAssertion( "MIM:278300"^^xsd:string) AnnotationAssertion( "GARD:5621"^^xsd:string) AnnotationAssertion( "MESH:C562584"^^xsd:string) AnnotationAssertion( "ORDO:93601"^^xsd:string) AnnotationAssertion( "XAN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070452"^^xsd:string) AnnotationAssertion(rdfs:label "xanthinuria type I"^^xsd:string) SubClassOf( ) # Class: (xanthinuria type II) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11302742/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23203137/"^^xsd:string) "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:24:46Z"^^xsd:string) AnnotationAssertion( "DOID:9004466"^^xsd:string) AnnotationAssertion( "MIM:603592"^^xsd:string) AnnotationAssertion( "GARD:5620"^^xsd:string) AnnotationAssertion( "MESH:C566358"^^xsd:string) AnnotationAssertion( "ORDO:93602"^^xsd:string) AnnotationAssertion( "XAN2"^^xsd:string) AnnotationAssertion( "combined deficiency of xanthine dehydrogenase and aldehyde oxidase"^^xsd:string) AnnotationAssertion( "xanthinuria type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070453"^^xsd:string) AnnotationAssertion(rdfs:label "xanthinuria type II"^^xsd:string) SubClassOf( ) # Class: (hereditary spastic paraplegia 70) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34585293/"^^xsd:string) "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:27:30Z"^^xsd:string) AnnotationAssertion( "DOID:9000026"^^xsd:string) AnnotationAssertion( "MIM:620323"^^xsd:string) AnnotationAssertion( "SPG70"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070454"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 70"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 79A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35986737/"^^xsd:string) "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:30:23Z"^^xsd:string) AnnotationAssertion( "MIM:620221"^^xsd:string) AnnotationAssertion( "SPG79A"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 79A"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 79A, with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070455"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 79A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 87) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35718349/"^^xsd:string) "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:35:34Z"^^xsd:string) AnnotationAssertion( "DOID:9003756"^^xsd:string) AnnotationAssertion( "MIM:619966"^^xsd:string) AnnotationAssertion( "SPG87"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 87"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070456"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 87"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 88) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34564892/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34825409/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34981581/"^^xsd:string) "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:37:18Z"^^xsd:string) AnnotationAssertion( "DOID:9008849"^^xsd:string) AnnotationAssertion( "MIM:620106"^^xsd:string) AnnotationAssertion( "SPG88"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070457"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 88"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 89) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37119330/"^^xsd:string) "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:38:37Z"^^xsd:string) AnnotationAssertion( "DOID:9002632"^^xsd:string) AnnotationAssertion( "MIM:620379"^^xsd:string) AnnotationAssertion( "SPG89"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070458"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 89"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 90A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36718090/"^^xsd:string) "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:39:58Z"^^xsd:string) AnnotationAssertion( "SPTSSA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620416"^^xsd:string) AnnotationAssertion( "SPG90A"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 90A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070459"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 90A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 90B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36718090/"^^xsd:string) "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:42:08Z"^^xsd:string) AnnotationAssertion( "SPTSSA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620417"^^xsd:string) AnnotationAssertion( "SPG90B"^^xsd:string) AnnotationAssertion( "spastic paraplegia 90B, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070460"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 90B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 4A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34483339/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34954817/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:43:13Z"^^xsd:string) AnnotationAssertion( "MIM:620358"^^xsd:string) AnnotationAssertion( "MONDO:0957254"^^xsd:string) AnnotationAssertion( "MC5DN4A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070461"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 4B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23599390/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:44:25Z"^^xsd:string) AnnotationAssertion( "MIM:615228"^^xsd:string) AnnotationAssertion( "MC5DN4B"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070462"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29478781/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:48:06Z"^^xsd:string) AnnotationAssertion( "DOID:9005595"^^xsd:string) AnnotationAssertion( "MIM:618120"^^xsd:string) AnnotationAssertion( "MC5DN5"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070463"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34954817/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35621276/"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:49:46Z"^^xsd:string) AnnotationAssertion( "DOID:9002101"^^xsd:string) AnnotationAssertion( "MIM:620359"^^xsd:string) AnnotationAssertion( "MC5DN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070464"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia with axonal neuropathy type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29718187/"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:51:08Z"^^xsd:string) AnnotationAssertion( "DOID:9008083"^^xsd:string) AnnotationAssertion( "EFO:0010249"^^xsd:string) AnnotationAssertion( "MIM:618387"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3"^^xsd:string) AnnotationAssertion( "SCAN3"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with axonal neuropathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070465"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia with axonal neuropathy type 3"^^xsd:string) SubClassOf( ) # Class: (carpal tunnel syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8309582/"^^xsd:string) "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:52:01Z"^^xsd:string) AnnotationAssertion( "DOID:9007824"^^xsd:string) AnnotationAssertion( "MIM:115430"^^xsd:string) AnnotationAssertion( "MONDO:0020730"^^xsd:string) AnnotationAssertion( "CTS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070466"^^xsd:string) AnnotationAssertion(rdfs:label "carpal tunnel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carpal tunnel syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32686688/"^^xsd:string) "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T09:53:19Z"^^xsd:string) AnnotationAssertion( "DOID:9003916"^^xsd:string) AnnotationAssertion( "MIM:619161"^^xsd:string) AnnotationAssertion( "CTS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070467"^^xsd:string) AnnotationAssertion(rdfs:label "carpal tunnel syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Yoon-Bellen neurodevelopmental syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28017472/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34800363/"^^xsd:string) "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-29T10:07:08Z"^^xsd:string) AnnotationAssertion( "DOID:9004385"^^xsd:string) AnnotationAssertion( "MIM:619701"^^xsd:string) AnnotationAssertion( "YOBELN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070468"^^xsd:string) AnnotationAssertion(rdfs:label "Yoon-Bellen neurodevelopmental syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with dysmorphic facies and thin corpus callosum) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31924697/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36255738/"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-29T10:09:25Z"^^xsd:string) AnnotationAssertion( "DOID:9000340"^^xsd:string) AnnotationAssertion( "MIM:619480"^^xsd:string) AnnotationAssertion( "NEDDFAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070469"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 1p36.33 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32004445/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33575671/"^^xsd:string) "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:11:12Z"^^xsd:string) AnnotationAssertion( "DOID:9002611"^^xsd:string) AnnotationAssertion( "MIM:618815"^^xsd:string) AnnotationAssertion( "ORDO:656279"^^xsd:string) AnnotationAssertion( "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster"^^xsd:string) AnnotationAssertion( "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070470"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 1p36.33 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (early-onset epilepsy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31197650/"^^xsd:string) "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-29T10:12:06Z"^^xsd:string) AnnotationAssertion( "DOID:9001558"^^xsd:string) AnnotationAssertion( "SETD1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0010739"^^xsd:string) AnnotationAssertion( "MIM:618832"^^xsd:string) AnnotationAssertion( "EPEDD"^^xsd:string) AnnotationAssertion( "EPEO2"^^xsd:string) AnnotationAssertion( "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070471"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset epilepsy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (early-onset epilepsy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36074901/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37161035/"^^xsd:string) "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-29T10:15:39Z"^^xsd:string) AnnotationAssertion( "DOID:9006144"^^xsd:string) AnnotationAssertion( "MIM:620465"^^xsd:string) AnnotationAssertion( "EPEO3"^^xsd:string) AnnotationAssertion( "early-onset epilepsy-3 with or without developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070472"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset epilepsy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zaki syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34587386/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37005218/"^^xsd:string) "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:13:47Z"^^xsd:string) AnnotationAssertion( "DOID:9001208"^^xsd:string) AnnotationAssertion( "MIM:619648"^^xsd:string) AnnotationAssertion( "MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES"^^xsd:string) AnnotationAssertion( "WLS SYNDROME"^^xsd:string) AnnotationAssertion( "ZKS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070473"^^xsd:string) AnnotationAssertion(rdfs:label "Zaki syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood-onset neurodegeneration with brain atrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28777933/"^^xsd:string) "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:16:01Z"^^xsd:string) AnnotationAssertion( "DOID:9008006"^^xsd:string) AnnotationAssertion( "GARD:13658"^^xsd:string) AnnotationAssertion( "MIM:617672"^^xsd:string) AnnotationAssertion( "ORDO:500180"^^xsd:string) AnnotationAssertion( "CONDBA"^^xsd:string) AnnotationAssertion( "INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "UBTF E210K NEUROREGRESSION SYNDROME"^^xsd:string) AnnotationAssertion( "UBTF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UBTF-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070474"^^xsd:string) AnnotationAssertion(rdfs:label "childhood-onset neurodegeneration with brain atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (SMARCB1-deficient renal medullary carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28697319/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35853783/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36645398/"^^xsd:string) "A renal cell carcinoma that develops in the renal medulla. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T09:50:28Z"^^xsd:string) AnnotationAssertion( "DOID:9005067"^^xsd:string) AnnotationAssertion( "EFO:1000314"^^xsd:string) AnnotationAssertion( "GARD:13175"^^xsd:string) AnnotationAssertion( "NCI:C7572"^^xsd:string) AnnotationAssertion( "ORDO:319319"^^xsd:string) AnnotationAssertion( "RMC"^^xsd:string) AnnotationAssertion( "kidney medullary carcinoma"^^xsd:string) AnnotationAssertion( "medullary adenocarcinoma"^^xsd:string) AnnotationAssertion( "medullary carcinoma of the kidney"^^xsd:string) AnnotationAssertion( "medullary renal cell carcinoma"^^xsd:string) AnnotationAssertion( "renal medullary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070475"^^xsd:string) AnnotationAssertion(rdfs:label "SMARCB1-deficient renal medullary carcinoma"^^xsd:string) SubClassOf( ) # Class: (diphthamide deficiency syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32576952/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35482014/"^^xsd:string) "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T09:55:11Z"^^xsd:string) AnnotationAssertion( "MIM:PS616901"^^xsd:string) AnnotationAssertion( "ORDO:459061"^^xsd:string) AnnotationAssertion( "DEDSSH"^^xsd:string) AnnotationAssertion( "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "developmental delay with short stature, dysmorphic facial features, and sparse hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070476"^^xsd:string) AnnotationAssertion(rdfs:label "diphthamide deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diphthamide deficiency syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30877278/"^^xsd:string) "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T09:59:17Z"^^xsd:string) AnnotationAssertion( "DOID:9005766"^^xsd:string) AnnotationAssertion( "MIM:616901"^^xsd:string) AnnotationAssertion( "DEDSSH1"^^xsd:string) AnnotationAssertion( "DPH1 syndrome"^^xsd:string) AnnotationAssertion( "Loucks-Innes syndrome"^^xsd:string) AnnotationAssertion( "developmental delay with short stature, dysmorphic facial features, and sparse hair 1"^^xsd:string) AnnotationAssertion( "developmental delay with short stature, dysmorphic features, and sparse hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070477"^^xsd:string) AnnotationAssertion(rdfs:label "diphthamide deficiency syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diphthamide deficiency syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32576952/"^^xsd:string) "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T09:59:35Z"^^xsd:string) AnnotationAssertion( "DOID:9007201"^^xsd:string) AnnotationAssertion( "MIM:620062"^^xsd:string) AnnotationAssertion( "DEDSSH2"^^xsd:string) AnnotationAssertion( "developmental delay with short stature, dysmorphic facial features, and sparse hair 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070478"^^xsd:string) AnnotationAssertion(rdfs:label "diphthamide deficiency syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35482014/"^^xsd:string) "An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:16:43Z"^^xsd:string) AnnotationAssertion( "DOID:9008919"^^xsd:string) AnnotationAssertion( "MIM:620070"^^xsd:string) AnnotationAssertion( "DPH5-RELATED DIPHTHAMIDE-DEFICIENCY SYNDROME"^^xsd:string) AnnotationAssertion( "NEDSFF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070479"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schwannomatosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19582488/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35674741/"^^xsd:string) "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:21:53Z"^^xsd:string) AnnotationAssertion( "MIM:162091"^^xsd:string) AnnotationAssertion( "NCI:C186703"^^xsd:string) AnnotationAssertion( "SMARCB1-related schwannomatosis"^^xsd:string) AnnotationAssertion( "SWN1"^^xsd:string) AnnotationAssertion( "SWNTS1"^^xsd:string) AnnotationAssertion( "SCHWANNOMATOSIS 1, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070480"^^xsd:string) AnnotationAssertion(rdfs:label "schwannomatosis 1"^^xsd:string) SubClassOf( ) # Class: (schwannomatosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24362817/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35674741/"^^xsd:string) "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:22:08Z"^^xsd:string) AnnotationAssertion( "LZTR1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615670"^^xsd:string) AnnotationAssertion( "NCI:C186704"^^xsd:string) AnnotationAssertion( "LZTR1-related schwannomatosis"^^xsd:string) AnnotationAssertion( "SWN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Schwannomatosis-2, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0070481"^^xsd:string) AnnotationAssertion(rdfs:label "schwannomatosis 2"^^xsd:string) SubClassOf( ) # Class: (spinal neurofibromatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25211147/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34012067/"^^xsd:string) "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:28:35Z"^^xsd:string) AnnotationAssertion( "DOID:9005235"^^xsd:string) AnnotationAssertion( "MIM:162210"^^xsd:string) AnnotationAssertion( "MESH:C563523"^^xsd:string) AnnotationAssertion( "FNSF"^^xsd:string) AnnotationAssertion( "FSNF"^^xsd:string) AnnotationAssertion( "SNF"^^xsd:string) AnnotationAssertion( "SPINAL NEUROFIBROMAS"^^xsd:string) AnnotationAssertion( "familial spinal neurofibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070482"^^xsd:string) AnnotationAssertion(rdfs:label "spinal neurofibromatosis"^^xsd:string) SubClassOf( ) # Class: (Watson syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1770531/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6025371/"^^xsd:string) "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:32:19Z"^^xsd:string) AnnotationAssertion( "DOID:9002380"^^xsd:string) AnnotationAssertion( "MIM:193520"^^xsd:string) AnnotationAssertion( "WTSN"^^xsd:string) AnnotationAssertion( "cafe-au-lait macules with pulmonary stenosis"^^xsd:string) AnnotationAssertion( "cafe-au-lait spots with pulmonic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070483"^^xsd:string) AnnotationAssertion(rdfs:label "Watson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Legius syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34012067/"^^xsd:string) "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:39:25Z"^^xsd:string) AnnotationAssertion( "DOID:9007799"^^xsd:string) AnnotationAssertion( "MIM:611431"^^xsd:string) AnnotationAssertion( "GARD:10714"^^xsd:string) AnnotationAssertion( "MESH:C548032"^^xsd:string) AnnotationAssertion( "NCI:C176941"^^xsd:string) AnnotationAssertion( "ORDO:137605"^^xsd:string) AnnotationAssertion( "LGSS"^^xsd:string) AnnotationAssertion( "NF1-like syndrome"^^xsd:string) AnnotationAssertion( "NFLS"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 1-like syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070484"^^xsd:string) AnnotationAssertion(rdfs:label "Legius syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36030551/"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:18:44Z"^^xsd:string) AnnotationAssertion( "DOID:9004597"^^xsd:string) AnnotationAssertion( "MIM:620275"^^xsd:string) AnnotationAssertion( "MC4DN23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070485"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36073231/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37046398/"^^xsd:string) "An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:20:59Z"^^xsd:string) AnnotationAssertion( "DOID:9008253"^^xsd:string) AnnotationAssertion( "MIM:620482"^^xsd:string) AnnotationAssertion( "PARK25"^^xsd:string) AnnotationAssertion( "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070486"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 25"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dopamine transporter deficiency syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37443770/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK442323/"^^xsd:string) "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:23:37Z"^^xsd:string) AnnotationAssertion( "DOID:9005014"^^xsd:string) AnnotationAssertion( "MESH:C567730"^^xsd:string) AnnotationAssertion( "MIM:PS613135"^^xsd:string) AnnotationAssertion( "NCI:C129866"^^xsd:string) AnnotationAssertion( "DTDS"^^xsd:string) AnnotationAssertion( "PKDYS"^^xsd:string) AnnotationAssertion( "Parkinsonism-Dystonia, Infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070487"^^xsd:string) AnnotationAssertion(rdfs:label "dopamine transporter deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atypical dopamine transporter deficiency syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37443770/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK442323/"^^xsd:string) "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:28:07Z"^^xsd:string) AnnotationAssertion( "atypical DTDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070488"^^xsd:string) AnnotationAssertion(rdfs:label "atypical dopamine transporter deficiency syndrome"^^xsd:string) SubClassOf( ) # Class: (classic dopamine transporter deficiency syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37443770/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK442323/"^^xsd:string) "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:30:00Z"^^xsd:string) AnnotationAssertion( "DOID:9005659"^^xsd:string) AnnotationAssertion( "GARD:10484"^^xsd:string) AnnotationAssertion( "MIM:613135"^^xsd:string) AnnotationAssertion( "ORDO:238455"^^xsd:string) AnnotationAssertion( "PKDYS1"^^xsd:string) AnnotationAssertion( "classic DTDS"^^xsd:string) AnnotationAssertion( "infantile parkinsonism-dystonia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070489"^^xsd:string) AnnotationAssertion(rdfs:label "classic dopamine transporter deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile parkinsonism-dystonia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23363473/"^^xsd:string) "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:33:20Z"^^xsd:string) AnnotationAssertion( "DOID:9009198"^^xsd:string) AnnotationAssertion( "GARD:13594"^^xsd:string) AnnotationAssertion( "MIM:618049"^^xsd:string) AnnotationAssertion( "PKDYS2"^^xsd:string) AnnotationAssertion( "brain dopamine-serotonin vesicular transport disease"^^xsd:string) AnnotationAssertion( "brain monoamine vesicular transport disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABNORMAL DENSE GRANULES"^^xsd:string) AnnotationAssertion( "DOID:0070490"^^xsd:string) AnnotationAssertion(rdfs:label "infantile parkinsonism-dystonia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10746561/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:35:34Z"^^xsd:string) AnnotationAssertion( "DOID:9007344"^^xsd:string) AnnotationAssertion( "MIM:220110"^^xsd:string) AnnotationAssertion( "NCI:C176895"^^xsd:string) AnnotationAssertion( "MC4DN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070491"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10767350/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12928484/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:37:53Z"^^xsd:string) AnnotationAssertion( "DOID:9005748"^^xsd:string) AnnotationAssertion( "MIM:619046"^^xsd:string) AnnotationAssertion( "MC4DN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070492"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11013136/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19295170/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:41:45Z"^^xsd:string) AnnotationAssertion( "DOID:9000822"^^xsd:string) AnnotationAssertion( "MIM:619048"^^xsd:string) AnnotationAssertion( "MC4DN4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070493"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18499082/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24781756/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:43:38Z"^^xsd:string) AnnotationAssertion( "DOID:9003553"^^xsd:string) AnnotationAssertion( "MIM:619051"^^xsd:string) AnnotationAssertion( "MC4DN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070494"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20727754/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:47:56Z"^^xsd:string) AnnotationAssertion( "DOID:9007489"^^xsd:string) AnnotationAssertion( "MIM:619052"^^xsd:string) AnnotationAssertion( "MC4DN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070495"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22243966/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:49:52Z"^^xsd:string) AnnotationAssertion( "DOID:9006390"^^xsd:string) AnnotationAssertion( "MIM:619053"^^xsd:string) AnnotationAssertion( "MC4DN10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070496"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24202787/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33751098/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:51:30Z"^^xsd:string) AnnotationAssertion( "DOID:9000374"^^xsd:string) AnnotationAssertion( "MIM:619054"^^xsd:string) AnnotationAssertion( "MC4DN11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070497"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24462369/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:52:57Z"^^xsd:string) AnnotationAssertion( "DOID:9006173"^^xsd:string) AnnotationAssertion( "MIM:619055"^^xsd:string) AnnotationAssertion( "MC4DN12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070498"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25604084/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:54:48Z"^^xsd:string) AnnotationAssertion( "DOID:9008434"^^xsd:string) AnnotationAssertion( "MIM:619058"^^xsd:string) AnnotationAssertion( "MC4DN14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070499"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26685157/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:56:07Z"^^xsd:string) AnnotationAssertion( "DOID:9001092"^^xsd:string) AnnotationAssertion( "MIM:619059"^^xsd:string) AnnotationAssertion( "MC4DN15"^^xsd:string) AnnotationAssertion( "MCDN15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070500"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31290619/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:57:32Z"^^xsd:string) AnnotationAssertion( "DOID:9001257"^^xsd:string) AnnotationAssertion( "MIM:619060"^^xsd:string) AnnotationAssertion( "MC4DN16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070501"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25175347/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T14:58:54Z"^^xsd:string) AnnotationAssertion( "DOID:9001849"^^xsd:string) AnnotationAssertion( "MIM:619061"^^xsd:string) AnnotationAssertion( "MONDO:0033652"^^xsd:string) AnnotationAssertion( "MC4DN17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070502"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31155743/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:04:43Z"^^xsd:string) AnnotationAssertion( "DOID:9005386"^^xsd:string) AnnotationAssertion( "MIM:619062"^^xsd:string) AnnotationAssertion( "MC4DN18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070503"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28386624/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:06:32Z"^^xsd:string) AnnotationAssertion( "DOID:9006233"^^xsd:string) AnnotationAssertion( "MIM:619063"^^xsd:string) AnnotationAssertion( "MC4DN19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070504"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28247525/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:08:11Z"^^xsd:string) AnnotationAssertion( "DOID:9004621"^^xsd:string) AnnotationAssertion( "MIM:619064"^^xsd:string) AnnotationAssertion( "MC4DN20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070505"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23746447/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:12:03Z"^^xsd:string) AnnotationAssertion( "DOID:9004227"^^xsd:string) AnnotationAssertion( "MIM:619065"^^xsd:string) AnnotationAssertion( "MC4DN21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070506"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33169484/"^^xsd:string) "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:15:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008899"^^xsd:string) AnnotationAssertion( "MIM:619355"^^xsd:string) AnnotationAssertion( "MC4DN22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070507"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (metabolic dysfunction and alcohol associated liver disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37364816/"^^xsd:string) "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:18:29Z"^^xsd:string) AnnotationAssertion( "MetALD"^^xsd:string) AnnotationAssertion( "metabolic dysfunction and alcohol related liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070508"^^xsd:string) AnnotationAssertion(rdfs:label "metabolic dysfunction and alcohol associated liver disease"^^xsd:string) SubClassOf( ) # Class: (Schinzel Giedion syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20436468/"^^xsd:string) "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:37:16Z"^^xsd:string) AnnotationAssertion( "DOID:9001389"^^xsd:string) AnnotationAssertion( "MIM:269150"^^xsd:string) AnnotationAssertion( "SETBP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SETBP1-related disorder"^^xsd:string) AnnotationAssertion( "GARD:117"^^xsd:string) AnnotationAssertion( "MESH:C536632"^^xsd:string) AnnotationAssertion( "NCI:C129308"^^xsd:string) AnnotationAssertion( "ORDO:798"^^xsd:string) AnnotationAssertion( "SGS"^^xsd:string) AnnotationAssertion( "Schinzel Giedion midface-retraction syndrome"^^xsd:string) AnnotationAssertion( "Schinzel-Giedion Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070509"^^xsd:string) AnnotationAssertion(rdfs:label "Schinzel Giedion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inflammatory poikiloderma with hair abnormalities and acral keratoses) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34999892/"^^xsd:string) "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:41:28Z"^^xsd:string) AnnotationAssertion( "DOID:9001883"^^xsd:string) AnnotationAssertion( "MIM:620199"^^xsd:string) AnnotationAssertion( "IPHAK"^^xsd:string) AnnotationAssertion( "LIPHAK"^^xsd:string) AnnotationAssertion( "LIPHAK syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070510"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory poikiloderma with hair abnormalities and acral keratoses"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polyhydramnios, megalencephaly, and symptomatic epilepsy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17522105/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33605605/"^^xsd:string) "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:43:43Z"^^xsd:string) AnnotationAssertion( "DOID:9006920"^^xsd:string) AnnotationAssertion( "MIM:611087"^^xsd:string) AnnotationAssertion( "GARD:12913"^^xsd:string) AnnotationAssertion( "MESH:C567020"^^xsd:string) AnnotationAssertion( "ORDO:500533"^^xsd:string) AnnotationAssertion( "PMSE"^^xsd:string) AnnotationAssertion( "PMSE SYNDROME"^^xsd:string) AnnotationAssertion( "Pretzel syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070511"^^xsd:string) AnnotationAssertion(rdfs:label "polyhydramnios, megalencephaly, and symptomatic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with hypotonia and speech delay) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36528028/"^^xsd:string) "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:46:43Z"^^xsd:string) AnnotationAssertion( "DOID:9001612"^^xsd:string) AnnotationAssertion( "MIM:620455"^^xsd:string) AnnotationAssertion( "MONDO:0957541"^^xsd:string) AnnotationAssertion( "NEDHSS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY WITH MUSCULAR SPASMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070512"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with hypotonia and speech delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37071997/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:49:28Z"^^xsd:string) AnnotationAssertion( "MIM:620489"^^xsd:string) AnnotationAssertion( "NEDFBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070513"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with dysmorphic facies and distal limb anomalies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28942966/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33522091/"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:53:30Z"^^xsd:string) AnnotationAssertion( "DOID:9009097"^^xsd:string) AnnotationAssertion( "MIM:617755"^^xsd:string) AnnotationAssertion( "MONDO:0060596"^^xsd:string) AnnotationAssertion( "NEDDFL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070514"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"^^xsd:string) SubClassOf( ) # Class: (chromosome 16p11.2 deletion syndrome, 593-kb) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19914906/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK11167/"^^xsd:string) "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:56:18Z"^^xsd:string) AnnotationAssertion( "DOID:9006640"^^xsd:string) AnnotationAssertion( "MIM:611913"^^xsd:string) AnnotationAssertion( "GARD:10740"^^xsd:string) AnnotationAssertion( "MESH:C579850"^^xsd:string) AnnotationAssertion( "ORDO:261197"^^xsd:string) AnnotationAssertion( "16p11.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "Proximal 16p11.2 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUTS14A"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 14A"^^xsd:string) AnnotationAssertion( "DOID:0070515"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 16p11.2 deletion syndrome, 593-kb"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitchell syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32169171/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37400800/"^^xsd:string) "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T20:59:58Z"^^xsd:string) AnnotationAssertion( "DOID:9002088"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACOX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:618960"^^xsd:string) AnnotationAssertion( "ORDO:631248"^^xsd:string) AnnotationAssertion( "MITCH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070516"^^xsd:string) AnnotationAssertion(rdfs:label "Mitchell syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal macular dystrophy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12657606/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20393116/"^^xsd:string) "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:41:35Z"^^xsd:string) AnnotationAssertion( "DOID:9002240"^^xsd:string) AnnotationAssertion( "MIM:608051"^^xsd:string) AnnotationAssertion( "MESH:C562746"^^xsd:string) AnnotationAssertion( "ORDO:319640"^^xsd:string) AnnotationAssertion( "MCDR2"^^xsd:string) AnnotationAssertion( "retinal macular dystrophy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070517"^^xsd:string) AnnotationAssertion(rdfs:label "retinal macular dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (familial multiple lipomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12516905/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32021365/"^^xsd:string) "A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:45:19Z"^^xsd:string) AnnotationAssertion( "DOID:9000797"^^xsd:string) AnnotationAssertion( "MIM:151900"^^xsd:string) AnnotationAssertion( "GARD:12925"^^xsd:string) AnnotationAssertion( "MESH:D000071070"^^xsd:string) AnnotationAssertion( "ORDO:199276"^^xsd:string) AnnotationAssertion( "Adiposis Dolorosa Type III"^^xsd:string) AnnotationAssertion( "Dercum's Disease Type III"^^xsd:string) AnnotationAssertion( "FML"^^xsd:string) AnnotationAssertion( "Familial Multiple Lipoma"^^xsd:string) AnnotationAssertion( "Familial Multiple Lipomas"^^xsd:string) AnnotationAssertion( "Familial Multiple Lipomatoses"^^xsd:string) AnnotationAssertion( "LIPO"^^xsd:string) AnnotationAssertion( "Lipoma Dolorosa"^^xsd:string) AnnotationAssertion( "multiple lipomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070518"^^xsd:string) AnnotationAssertion(rdfs:label "familial multiple lipomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (early-onset vitamin B6-dependent epilepsy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29053735/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30043187/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1486/"^^xsd:string) "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:48:06Z"^^xsd:string) AnnotationAssertion( "MIM:266100"^^xsd:string) AnnotationAssertion( "AASA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "EPEO4"^^xsd:string) AnnotationAssertion( "PDE-ALDH7A1"^^xsd:string) AnnotationAssertion( "antiquitin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070519"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset vitamin B6-dependent epilepsy 4"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20691404/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28584761"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:52:51Z"^^xsd:string) AnnotationAssertion( "DOID:9002384"^^xsd:string) AnnotationAssertion( "MIM:270300"^^xsd:string) AnnotationAssertion( "ORDO:263553"^^xsd:string) AnnotationAssertion( "PSS1"^^xsd:string) AnnotationAssertion( "generalized inflammatory peeling skin syndrome"^^xsd:string) AnnotationAssertion( "inflammatory peeling skin syndrome"^^xsd:string) AnnotationAssertion( "peeling skin syndrome type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070520"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 1"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 2) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16380904/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22036214/"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:54:49Z"^^xsd:string) AnnotationAssertion( "DOID:9002697"^^xsd:string) AnnotationAssertion( "MIM:609796"^^xsd:string) AnnotationAssertion( "localized peeling skin syndrome"^^xsd:string) AnnotationAssertion( "GARD:12863"^^xsd:string) AnnotationAssertion( "MESH:C536316"^^xsd:string) AnnotationAssertion( "ORDO:263534"^^xsd:string) AnnotationAssertion( "APSS"^^xsd:string) AnnotationAssertion( "Acral peeling skin syndrome"^^xsd:string) AnnotationAssertion( "PSS2"^^xsd:string) AnnotationAssertion( "peeling skin syndrome, acral type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070521"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 2"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22289416/"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:56:03Z"^^xsd:string) AnnotationAssertion( "DOID:9008071"^^xsd:string) AnnotationAssertion( "peeling skin syndrome type A"^^xsd:string) AnnotationAssertion( "MIM:616265"^^xsd:string) AnnotationAssertion( "PSS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070522"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 3"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21944047/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23534700/"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T10:57:42Z"^^xsd:string) AnnotationAssertion( "DOID:9007796"^^xsd:string) AnnotationAssertion( "MIM:607936"^^xsd:string) AnnotationAssertion( "AREI"^^xsd:string) AnnotationAssertion( "autosomal recessive exfoliative ichthyosis"^^xsd:string) AnnotationAssertion( "exfoliative ichthyosis"^^xsd:string) AnnotationAssertion( "MESH:C564309"^^xsd:string) AnnotationAssertion( "Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like"^^xsd:string) AnnotationAssertion( "PSS4"^^xsd:string) AnnotationAssertion( "exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like"^^xsd:string) AnnotationAssertion( "ichthyosis bullosa of Siemens-like"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070523"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 4"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27476651/"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:00:34Z"^^xsd:string) AnnotationAssertion( "DOID:9005907"^^xsd:string) AnnotationAssertion( "MIM:617115"^^xsd:string) AnnotationAssertion( "PSS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070524"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 5"^^xsd:string) SubClassOf( ) # Class: (peeling skin syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29505760/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29758285/"^^xsd:string) "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:01:55Z"^^xsd:string) AnnotationAssertion( "DOID:9009226"^^xsd:string) AnnotationAssertion( "peeling skin syndrome type A"^^xsd:string) AnnotationAssertion( "MIM:618084"^^xsd:string) AnnotationAssertion( "PSS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070525"^^xsd:string) AnnotationAssertion(rdfs:label "peeling skin syndrome 6"^^xsd:string) SubClassOf( ) # Class: (PLACK syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25683118/"^^xsd:string) "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:04:08Z"^^xsd:string) AnnotationAssertion( "DOID:9005287"^^xsd:string) AnnotationAssertion( "MIM:616295"^^xsd:string) AnnotationAssertion( "ORDO:444138"^^xsd:string) AnnotationAssertion( "PLACK"^^xsd:string) AnnotationAssertion( "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070526"^^xsd:string) AnnotationAssertion(rdfs:label "PLACK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Borrelia miyamotoi disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36113496/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36839539"^^xsd:string) "A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:09:34Z"^^xsd:string) AnnotationAssertion( "BMD"^^xsd:string) AnnotationAssertion( "hard tick-borne relapsing fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070527"^^xsd:string) AnnotationAssertion(rdfs:label "Borrelia miyamotoi disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cepacia syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15463897/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33214785/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36815622/"^^xsd:string) Annotation( "https://www.cdc.gov/hai/organisms/bcepacia.html"^^xsd:string) "An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:15:04Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070528"^^xsd:string) AnnotationAssertion(rdfs:label "cepacia syndrome"^^xsd:string) SubClassOf( ) # Class: (Sifrim-Hitz-Weiss syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27479907/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27616479/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK561516/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:16:29Z"^^xsd:string) AnnotationAssertion( "DOID:9008154"^^xsd:string) AnnotationAssertion( "MIM:617159"^^xsd:string) AnnotationAssertion( "NCI:C201595"^^xsd:string) AnnotationAssertion( "ORDO:653712"^^xsd:string) AnnotationAssertion( "CHD4 Neurodevelopmental Disorder"^^xsd:string) AnnotationAssertion( "CHD4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CHD4-related neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "CHD4-related neurodevelopmental syndrome"^^xsd:string) AnnotationAssertion( "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME"^^xsd:string) AnnotationAssertion( "SIHIWES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070529"^^xsd:string) AnnotationAssertion(rdfs:label "Sifrim-Hitz-Weiss syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (foveal hypoplasia 1) AnnotationAssertion(Annotation( "https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome"^^xsd:string) Annotation( "https://eyewiki.org/Foveal_Hypoplasia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12721955/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24290379/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7065945/"^^xsd:string) "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:19:30Z"^^xsd:string) AnnotationAssertion( "DOID:9003088"^^xsd:string) AnnotationAssertion( "MIM:136520"^^xsd:string) AnnotationAssertion( "MESH:C537858"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES"^^xsd:string) AnnotationAssertion( "FVH1"^^xsd:string) AnnotationAssertion( "Foveal Hypoplasia and Presenile Cataract Syndrome"^^xsd:string) AnnotationAssertion( "Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts"^^xsd:string) AnnotationAssertion( "Foveal hypoplasia, presenile cataract"^^xsd:string) AnnotationAssertion( "O'Donnell-Pappas syndrome"^^xsd:string) AnnotationAssertion( "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 1 WITH CATARACT"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA AND CATARACT"^^xsd:string) AnnotationAssertion( "foveal hypoplasia-presenile cataract syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070530"^^xsd:string) AnnotationAssertion(rdfs:label "foveal hypoplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (foveal hypoplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24045842/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24290379/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33498813/"^^xsd:string) "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:24:31Z"^^xsd:string) AnnotationAssertion( "DOID:9005271"^^xsd:string) AnnotationAssertion( "MIM:609218"^^xsd:string) AnnotationAssertion( "MESH:C563774"^^xsd:string) AnnotationAssertion( "ORDO:397618"^^xsd:string) AnnotationAssertion( "FHONDA"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS"^^xsd:string) AnnotationAssertion( "FVH2"^^xsd:string) AnnotationAssertion( "Foveal Hypoplasia and Anterior Segment Dysgenesis"^^xsd:string) AnnotationAssertion( "FHONDA syndrome"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM"^^xsd:string) AnnotationAssertion( "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS"^^xsd:string) AnnotationAssertion( "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070531"^^xsd:string) AnnotationAssertion(rdfs:label "foveal hypoplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aniridia 1) AnnotationAssertion(Annotation( "https://eyewiki.org/Aniridia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12721955/"^^xsd:string) "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:27:45Z"^^xsd:string) AnnotationAssertion( "DOID:9002455"^^xsd:string) AnnotationAssertion( "MIM:106210"^^xsd:string) AnnotationAssertion( "MESH:C536372"^^xsd:string) AnnotationAssertion( "AN1"^^xsd:string) AnnotationAssertion( "CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AN2, formerly"^^xsd:string) AnnotationAssertion( "aniridia 2, formerly"^^xsd:string) AnnotationAssertion( "aniridia II, formerly"^^xsd:string) AnnotationAssertion( "aniridia type 2, formerly"^^xsd:string) AnnotationAssertion( "DOID:0070532"^^xsd:string) AnnotationAssertion(rdfs:label "aniridia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25460178/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31454269/"^^xsd:string) "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:22:18Z"^^xsd:string) AnnotationAssertion( "DOID:9007211"^^xsd:string) AnnotationAssertion( "MIM:618782"^^xsd:string) AnnotationAssertion( "LQT16"^^xsd:string) AnnotationAssertion( "CPVT6"^^xsd:string) AnnotationAssertion( "catecholaminergic polymorphic ventricular tachycardia 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070533"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 16"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic left ventricular cardiomyopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31637441/"^^xsd:string) "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:25:06Z"^^xsd:string) AnnotationAssertion( "ORDO:293888"^^xsd:string) AnnotationAssertion( "ALVC"^^xsd:string) AnnotationAssertion( "left ventricular ACM"^^xsd:string) AnnotationAssertion( "left-dominant arrhythmogenic cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070534"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic left ventricular cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (arrhythmogenic biventricular cardiomyopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31637441/"^^xsd:string) "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:31:10Z"^^xsd:string) AnnotationAssertion( "ORDO:293899"^^xsd:string) AnnotationAssertion( "biventricular ACM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070535"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic biventricular cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34163037/"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:34:44Z"^^xsd:string) AnnotationAssertion( "DOID:9006904"^^xsd:string) AnnotationAssertion( "MIM:620029"^^xsd:string) AnnotationAssertion( "NEDHLSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070536"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic tetraplegia, thin corpus callosum, and progressive microcephaly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25930971/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26138499/"^^xsd:string) "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:38:08Z"^^xsd:string) AnnotationAssertion( "DOID:9004845"^^xsd:string) AnnotationAssertion( "GARD:13425"^^xsd:string) AnnotationAssertion( "MIM:616657"^^xsd:string) AnnotationAssertion( "ORDO:447997"^^xsd:string) AnnotationAssertion( "SPATCCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070537"^^xsd:string) AnnotationAssertion(rdfs:label "spastic tetraplegia, thin corpus callosum, and progressive microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual developmental disorder Bain type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27545675/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37372334/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK584018/"^^xsd:string) "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T16:41:03Z"^^xsd:string) AnnotationAssertion( "DOID:9008950"^^xsd:string) AnnotationAssertion( "GARD:13442"^^xsd:string) AnnotationAssertion( "MIM:300986"^^xsd:string) AnnotationAssertion( "NCI:C183311"^^xsd:string) AnnotationAssertion( "Bain type of X-linked syndromic mental retardation"^^xsd:string) AnnotationAssertion( "HNRNPH2-RNDD"^^xsd:string) AnnotationAssertion( "HNRNPH2-related neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "MRXSB"^^xsd:string) AnnotationAssertion( "Mental Retardation, X-linked, Syndrome, Bain Type"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Bain type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070538"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual developmental disorder Bain type"^^xsd:string) SubClassOf( ) # Class: (Halperin-Birk syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30464055/"^^xsd:string) "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:20:47Z"^^xsd:string) AnnotationAssertion( "DOID:9004325"^^xsd:string) AnnotationAssertion( "EFO:0010662"^^xsd:string) AnnotationAssertion( "MIM:618651"^^xsd:string) AnnotationAssertion( "HLBKS"^^xsd:string) AnnotationAssertion( "NEDSOSB"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070539"^^xsd:string) AnnotationAssertion(rdfs:label "Halperin-Birk syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial short-chain enoyl-CoA hydratase 1 deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25125611/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK542806/"^^xsd:string) "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:02:44Z"^^xsd:string) AnnotationAssertion( "DOID:9003746"^^xsd:string) AnnotationAssertion( "GARD:13019"^^xsd:string) AnnotationAssertion( "MIM:616277"^^xsd:string) AnnotationAssertion( "MONDO:0014563"^^xsd:string) AnnotationAssertion( "NCI:C174218"^^xsd:string) AnnotationAssertion( "ORDO:653880"^^xsd:string) AnnotationAssertion( "ECHS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ECHS1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070540"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-hydroxy-3-methylglutaryl-CoA lyase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3128690/"^^xsd:string) "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:07:45Z"^^xsd:string) AnnotationAssertion( "DOID:9006234"^^xsd:string) AnnotationAssertion( "GARD:8387"^^xsd:string) AnnotationAssertion( "MESH:C538324"^^xsd:string) AnnotationAssertion( "MIM:246450"^^xsd:string) AnnotationAssertion( "MONDO:0009520"^^xsd:string) AnnotationAssertion( "NCI:C84523"^^xsd:string) AnnotationAssertion( "ORDO:20"^^xsd:string) AnnotationAssertion( "3-Hydroxyl 3-Methyl Glutaric Aciduria"^^xsd:string) AnnotationAssertion( "3-hydroxy 3-methyl glutaric aciduria"^^xsd:string) AnnotationAssertion( "3-hydroxy-3-methylglutaric aciduria"^^xsd:string) AnnotationAssertion( "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of Hydroxymethylglutaryl-CoA Lyase"^^xsd:string) AnnotationAssertion( "HL DEFICIENCY"^^xsd:string) AnnotationAssertion( "HMG CoA lyase deficiency"^^xsd:string) AnnotationAssertion( "HMGCL deficiency"^^xsd:string) AnnotationAssertion( "HMGCLD"^^xsd:string) AnnotationAssertion( "hydroxymethylglutaric aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070541"^^xsd:string) AnnotationAssertion(rdfs:label "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with spastic paraplegia and microcephaly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29882329/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31471722/"^^xsd:string) "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:17:40Z"^^xsd:string) AnnotationAssertion( "DOID:9002164"^^xsd:string) AnnotationAssertion( "MIM:616281"^^xsd:string) AnnotationAssertion( "MONDO:0014567"^^xsd:string) AnnotationAssertion( "ORDO:477673"^^xsd:string) AnnotationAssertion( "GPT2 deficiency"^^xsd:string) AnnotationAssertion( "GPT2-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MRT49"^^xsd:string) AnnotationAssertion( "NEDSPM"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 49"^^xsd:string) AnnotationAssertion( "glutamate pyruvate transaminase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070542"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with spastic paraplegia and microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33015733/"^^xsd:string) "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:23:01Z"^^xsd:string) AnnotationAssertion( "DOID:9001963"^^xsd:string) AnnotationAssertion( "MIM:619121"^^xsd:string) AnnotationAssertion( "MONDO:0030866"^^xsd:string) AnnotationAssertion( "NEDCASB"^^xsd:string) AnnotationAssertion( "SHMT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070543"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital glutamine deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21353613/"^^xsd:string) "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:26:08Z"^^xsd:string) AnnotationAssertion( "DOID:9008125"^^xsd:string) AnnotationAssertion( "GARD:9848"^^xsd:string) AnnotationAssertion( "MESH:C536832"^^xsd:string) AnnotationAssertion( "MIM:610015"^^xsd:string) AnnotationAssertion( "MONDO:0012393"^^xsd:string) AnnotationAssertion( "ORDO:71278"^^xsd:string) AnnotationAssertion( "GLND"^^xsd:string) AnnotationAssertion( "Glutamine synthase deficiency, congenital systemic"^^xsd:string) AnnotationAssertion( "Glutamine synthetase deficiency, congenital systemic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070544"^^xsd:string) AnnotationAssertion(rdfs:label "congenital glutamine deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 116) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/38579670/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T10:30:34Z"^^xsd:string) AnnotationAssertion( "DOID:9006440"^^xsd:string) AnnotationAssertion( "MIM:620806"^^xsd:string) AnnotationAssertion( "DEE116"^^xsd:string) AnnotationAssertion( "GLUTAMINE SYNTHETASE STABILIZATION DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070545"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 116"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12213893/"^^xsd:string) "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:35:03Z"^^xsd:string) AnnotationAssertion( "DOID:9005321"^^xsd:string) AnnotationAssertion( "MESH:C566469"^^xsd:string) AnnotationAssertion( "MIM:610489"^^xsd:string) AnnotationAssertion( "MONDO:0012509"^^xsd:string) AnnotationAssertion( "Adrenocortical Nodular Dysplasia, Primary"^^xsd:string) AnnotationAssertion( "PPNAD1"^^xsd:string) AnnotationAssertion( "Pigmented Micronodular Adrenocortical Disease, Primary, 1"^^xsd:string) AnnotationAssertion( "adrenal Cushing syndrome, due to PPNAD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070546"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16767104/"^^xsd:string) "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:38:18Z"^^xsd:string) AnnotationAssertion( "DOID:9002348"^^xsd:string) AnnotationAssertion( "MESH:C566472"^^xsd:string) AnnotationAssertion( "MIM:610475"^^xsd:string) AnnotationAssertion( "MONDO:0012505"^^xsd:string) AnnotationAssertion( "PDE11A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PPNAD2"^^xsd:string) AnnotationAssertion( "Pigmented Micronodular Adrenocortical Disease, Primary, 2"^^xsd:string) AnnotationAssertion( "adrenal Cushing syndrome, due to PPNAD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070547"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18272904/"^^xsd:string) "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:42:12Z"^^xsd:string) AnnotationAssertion( "DOID:9005327"^^xsd:string) AnnotationAssertion( "MIM:614190"^^xsd:string) AnnotationAssertion( "MONDO:0013616"^^xsd:string) AnnotationAssertion( "PPNAD3"^^xsd:string) AnnotationAssertion( "adrenal Cushing syndrome, due to PPNAD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070548"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease 3"^^xsd:string) SubClassOf( ) # Class: (primary pigmented nodular adrenocortical disease 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24571724"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25924874/"^^xsd:string) "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:42:25Z"^^xsd:string) AnnotationAssertion( "DOID:9006355"^^xsd:string) AnnotationAssertion( "MIM:615830"^^xsd:string) AnnotationAssertion( "MONDO:0014359"^^xsd:string) AnnotationAssertion( "PPNAD4"^^xsd:string) AnnotationAssertion( "adrenal Cushing syndrome, due to PPNAD4"^^xsd:string) AnnotationAssertion( "chromosome 19p13 duplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070549"^^xsd:string) AnnotationAssertion(rdfs:label "primary pigmented nodular adrenocortical disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (KRT1-related nonepidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12406346/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7528239/"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:49:42Z"^^xsd:string) AnnotationAssertion( "GARD:5186"^^xsd:string) AnnotationAssertion( "MIM:600962"^^xsd:string) AnnotationAssertion( "ORDO:530838"^^xsd:string) AnnotationAssertion( "KRT1-related NEPPK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070550"^^xsd:string) AnnotationAssertion(rdfs:label "KRT1-related nonepidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (epidermolytic palmoplantar keratoderma 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11286630/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37122192/"^^xsd:string) "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T16:57:29Z"^^xsd:string) AnnotationAssertion( "DOID:9006539"^^xsd:string) AnnotationAssertion( "MIM:620411"^^xsd:string) AnnotationAssertion( "MONDO:0957303"^^xsd:string) AnnotationAssertion( "EPPK2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070551"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic palmoplantar keratoderma 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolytic palmoplantar keratoderma 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12192490/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30666268"^^xsd:string) "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T17:01:34Z"^^xsd:string) AnnotationAssertion( "DOID:9007353"^^xsd:string) AnnotationAssertion( "MESH:C564171"^^xsd:string) AnnotationAssertion( "MIM:144200"^^xsd:string) AnnotationAssertion( "MONDO:0007758"^^xsd:string) AnnotationAssertion( "EPPK1"^^xsd:string) AnnotationAssertion( "Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "KERATOSIS OF GREITHER"^^xsd:string) AnnotationAssertion( "DOID:0070552"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic palmoplantar keratoderma 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal palmoplantar and gingival keratosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/133736/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/15761417/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33262878/"^^xsd:string) "A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T17:06:52Z"^^xsd:string) AnnotationAssertion( "DOID:9008814"^^xsd:string) AnnotationAssertion( "GARD:3098"^^xsd:string) AnnotationAssertion( "MESH:C536157"^^xsd:string) AnnotationAssertion( "MIM:148730"^^xsd:string) AnnotationAssertion( "MONDO:0007860"^^xsd:string) AnnotationAssertion( "ORDO:2200"^^xsd:string) AnnotationAssertion( "focal palmoplantar and gingival hyperkeratosis syndrome"^^xsd:string) AnnotationAssertion( "focal palmoplantar and oral mucosa hyperkeratosis"^^xsd:string) AnnotationAssertion( "keratosis, focal, palmoplantar, gingival"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070553"^^xsd:string) AnnotationAssertion(rdfs:label "focal palmoplantar and gingival keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palmoplantar keratoderma and woolly hair) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24671081/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35283492"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-28T17:14:13Z"^^xsd:string) AnnotationAssertion( "DOID:9005974"^^xsd:string) AnnotationAssertion( "DOID:9007018"^^xsd:string) AnnotationAssertion( "MESH:C564359"^^xsd:string) AnnotationAssertion( "MIM:616099"^^xsd:string) AnnotationAssertion( "MONDO:0014492"^^xsd:string) AnnotationAssertion( "ORDO:420686"^^xsd:string) AnnotationAssertion( "PPKWH"^^xsd:string) AnnotationAssertion( "SFWHS"^^xsd:string) AnnotationAssertion( "Skin Fragility-Woolly Hair Syndrome"^^xsd:string) AnnotationAssertion( "keratoderma with woolly hair type IV"^^xsd:string) AnnotationAssertion( "woolly hair-palmoplantar keratoderma syndrome type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070554"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratoderma and woolly hair"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nagashima-type palmoplantar keratosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24207119/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24773080/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35178744/"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T08:54:42Z"^^xsd:string) AnnotationAssertion( "DOID:9000205"^^xsd:string) AnnotationAssertion( "MIM:615598"^^xsd:string) AnnotationAssertion( "MONDO:0014272"^^xsd:string) AnnotationAssertion( "ORDO:140966"^^xsd:string) AnnotationAssertion( "NPPK"^^xsd:string) AnnotationAssertion( "PPKN"^^xsd:string) AnnotationAssertion( "SERPINB7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma Nagashima type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0070555"^^xsd:string) AnnotationAssertion(rdfs:label "Nagashima-type palmoplantar keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (muscular disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/muscledisorders.html"^^xsd:string) "A musculoskeletal system disease that affects the muscles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002970"^^xsd:string) AnnotationAssertion( "MESH:D009135"^^xsd:string) AnnotationAssertion( "muscle disorder"^^xsd:string) AnnotationAssertion( "muscle disorders"^^xsd:string) AnnotationAssertion( "muscular diseases"^^xsd:string) AnnotationAssertion( "SKELETAL MUSCLE DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080000"^^xsd:string) AnnotationAssertion(rdfs:label "muscular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_disease"^^xsd:string) "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004260"^^xsd:string) AnnotationAssertion( "EFO:0009665"^^xsd:string) AnnotationAssertion( "ICD10CM:M89.9"^^xsd:string) AnnotationAssertion( "MESH:D001847"^^xsd:string) AnnotationAssertion( "bone diseases"^^xsd:string) AnnotationAssertion( "skeletal disease"^^xsd:string) AnnotationAssertion( "skeletal disorder"^^xsd:string) AnnotationAssertion( "disorder of patella"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080001"^^xsd:string) AnnotationAssertion(rdfs:label "bone disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (bone remodeling disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_remodeling"^^xsd:string) "A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080005"^^xsd:string) AnnotationAssertion(rdfs:label "bone remodeling disease"^^xsd:string) SubClassOf( ) # Class: (bone development disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysplasia"^^xsd:string) "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005541"^^xsd:string) AnnotationAssertion( "MESH:D001848"^^xsd:string) AnnotationAssertion( "bone dysplasia"^^xsd:string) AnnotationAssertion( "bone dysplasias"^^xsd:string) AnnotationAssertion( "developmental bone disease"^^xsd:string) AnnotationAssertion( "developmental bone diseases"^^xsd:string) AnnotationAssertion( "BMPR1A SKELETAL DYSPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "sclerosing bone dysplasias"^^xsd:string) AnnotationAssertion( "DOID:0080006"^^xsd:string) AnnotationAssertion(rdfs:label "bone development disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone deterioration disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm"^^xsd:string) "A bone structure disease that results_in change or damage of structure located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004312"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080007"^^xsd:string) AnnotationAssertion(rdfs:label "bone deterioration disease"^^xsd:string) SubClassOf( ) # Class: (ischemic bone disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Avascular_necrosis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm"^^xsd:string) "A bone disease that results_in an interruption of blood supply located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004302"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080008"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic bone disease"^^xsd:string) SubClassOf( ) # Class: (X-linked dominant disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/X-linked_dominant_inheritance"^^xsd:string) "A X-linked monogenic disease that has_material_basis_in dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080009"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dominant disease"^^xsd:string) SubClassOf( ) # Class: (bone structure disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_skeleton"^^xsd:string) "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "HP:0003330"^^xsd:string) AnnotationAssertion( "HP:0004348"^^xsd:string) AnnotationAssertion( "MP:0003795"^^xsd:string) AnnotationAssertion( "ABNORMAL BONE STRUCTURE"^^xsd:string) AnnotationAssertion( "Abnormality of bone mineral density"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080010"^^xsd:string) AnnotationAssertion(rdfs:label "bone structure disease"^^xsd:string) SubClassOf( ) # Class: (bone resorption disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_resorption"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11277085"^^xsd:string) "A bone remodeling disease that results in an abnormal decrease of bone density or mass. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D001862"^^xsd:string) AnnotationAssertion( "Bone Resorption"^^xsd:string) AnnotationAssertion( "Bone Resorptions"^^xsd:string) AnnotationAssertion( "Osteoclastic Bone Loss"^^xsd:string) AnnotationAssertion( "Osteoclastic Bone Losses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080011"^^xsd:string) AnnotationAssertion(rdfs:label "bone resorption disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked recessive disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/X-linked_recessive_inheritance"^^xsd:string) "A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "X-linked recessive inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080012"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked recessive disease"^^xsd:string) SubClassOf( ) # Class: (chromosomal disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chromosome_abnormality"^^xsd:string) Annotation( "https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet"^^xsd:string) "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003831"^^xsd:string) AnnotationAssertion( "MESH:D025063"^^xsd:string) AnnotationAssertion( "MONDO:0019040"^^xsd:string) AnnotationAssertion( "Autosomal Chromosome Disorder"^^xsd:string) AnnotationAssertion( "Chromosomal Disorder"^^xsd:string) AnnotationAssertion( "Chromosomal Disorders"^^xsd:string) AnnotationAssertion( "Chromosome Abnormality Disorder"^^xsd:string) AnnotationAssertion( "Chromosome Abnormality Disorders"^^xsd:string) AnnotationAssertion( "Chromosome Disorder"^^xsd:string) AnnotationAssertion( "autosomal chromosome disorders"^^xsd:string) AnnotationAssertion( "chromosome disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080014"^^xsd:string) AnnotationAssertion(rdfs:label "chromosomal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (physical disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder"^^xsd:string) "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (DO)"^^xsd:string) AnnotationAssertion( "congenital disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080015"^^xsd:string) AnnotationAssertion(rdfs:label "physical disorder"^^xsd:string) SubClassOf( ) # Class: (spina bifida) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Spina_bifida"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/spina-bifida"^^xsd:string) "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000938"^^xsd:string) AnnotationAssertion( "EFO:0003105"^^xsd:string) AnnotationAssertion( "GARD:7673"^^xsd:string) AnnotationAssertion( "ICD9CM:741"^^xsd:string) AnnotationAssertion( "MESH:D016135"^^xsd:string) AnnotationAssertion( "NCI:C101214"^^xsd:string) AnnotationAssertion( "Spina Bifidas"^^xsd:string) AnnotationAssertion( "cleft spine"^^xsd:string) AnnotationAssertion( "open spine"^^xsd:string) AnnotationAssertion( "rachischises"^^xsd:string) AnnotationAssertion( "rachischisis"^^xsd:string) AnnotationAssertion( "schistorrhachis"^^xsd:string) AnnotationAssertion( "spinal dysraphia"^^xsd:string) AnnotationAssertion( "spinal dysraphias"^^xsd:string) AnnotationAssertion( "spinal dysraphism"^^xsd:string) AnnotationAssertion( "spinal dysraphisms"^^xsd:string) AnnotationAssertion( "status dysraphicus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Spina Bifida, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:0080016"^^xsd:string) AnnotationAssertion(rdfs:label "spina bifida"^^xsd:string) SubClassOf( ) # Class: (dysbaric osteonecrosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis"^^xsd:string) "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "Caisson disease of bone"^^xsd:string) AnnotationAssertion( "DON"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080018"^^xsd:string) AnnotationAssertion(rdfs:label "dysbaric osteonecrosis"^^xsd:string) SubClassOf( ) # Class: (metaphyseal dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Metaphyseal_dysplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:265900"^^xsd:string) AnnotationAssertion( "MESH:C536252"^^xsd:string) AnnotationAssertion( "Bakwin-Krida syndrome"^^xsd:string) AnnotationAssertion( "Edwin Pyle disease"^^xsd:string) AnnotationAssertion( "PYL"^^xsd:string) AnnotationAssertion( "Pyle disease"^^xsd:string) AnnotationAssertion( "Pyle metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "Pyle's disease"^^xsd:string) AnnotationAssertion( "Pyle-Cohn syndrome"^^xsd:string) AnnotationAssertion( "metaphyseal dysplasia with little involvement of the cranial bones"^^xsd:string) AnnotationAssertion( "metaphyseal dysplasia, Pyle type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080019"^^xsd:string) AnnotationAssertion(rdfs:label "metaphyseal dysplasia"^^xsd:string) SubClassOf( ) # Class: (Jansen's metaphyseal chondrodysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype"^^xsd:string) "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156400"^^xsd:string) AnnotationAssertion( "RDO:0003428"^^xsd:string) AnnotationAssertion( "MESH:C537564"^^xsd:string) AnnotationAssertion( "Jansen Type Metaphyseal Chondrodysplasia"^^xsd:string) AnnotationAssertion( "Jansen disease"^^xsd:string) AnnotationAssertion( "Jansen metaphyseal chondrodysplasia"^^xsd:string) AnnotationAssertion( "Jansen metaphyseal dysostosis"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia Murk Jansen type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080020"^^xsd:string) AnnotationAssertion(rdfs:label "Jansen's metaphyseal chondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schmid metaphyseal chondrodysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/omim/156500"^^xsd:string) "A metaphyseal dysplasia that results_in dwarfism and bowed legs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156500"^^xsd:string) AnnotationAssertion( "OMIA:001718"^^xsd:string) AnnotationAssertion( "GARD:7029"^^xsd:string) AnnotationAssertion( "MESH:C537352"^^xsd:string) AnnotationAssertion( "COL10A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Japanese type spondylometaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "MCDS"^^xsd:string) AnnotationAssertion( "Schmid type metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "dwarfism, Schmid metaphyseal chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080021"^^xsd:string) AnnotationAssertion(rdfs:label "Schmid metaphyseal chondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (otospondylomegaepiphyseal dysplasia, autosomal recessive) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia"^^xsd:string) Annotation( "http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/omim/215150"^^xsd:string) "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215150"^^xsd:string) AnnotationAssertion( "MIM:249230"^^xsd:string) AnnotationAssertion( "MESH:C536140"^^xsd:string) AnnotationAssertion( "MIM:PS184840"^^xsd:string) AnnotationAssertion( "Insley-Astley syndrome"^^xsd:string) AnnotationAssertion( "NANCE-INSLEY SYNDROME"^^xsd:string) AnnotationAssertion( "Nance-Sweeney chondrodysplasia"^^xsd:string) AnnotationAssertion( "OSMED"^^xsd:string) AnnotationAssertion( "OSMEDB"^^xsd:string) AnnotationAssertion( "chondrodystrophy with sensorineural deafness"^^xsd:string) AnnotationAssertion( "mega-epiphyseal dwarfism"^^xsd:string) AnnotationAssertion( "megaepiphyseal dwarfism"^^xsd:string) AnnotationAssertion( "oto-spondylo-mega-epiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "oto-spondylo-megaepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "WZS, formerly"^^xsd:string) AnnotationAssertion( "Weissenbacher-Zweymuller syndrome, formerly"^^xsd:string) AnnotationAssertion( "DOID:0080026"^^xsd:string) AnnotationAssertion(rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia"^^xsd:string) "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080027"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Strudwick type) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type"^^xsd:string) "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)"^^xsd:string) AnnotationAssertion( "MIM:184250"^^xsd:string) AnnotationAssertion( "GARD:134"^^xsd:string) AnnotationAssertion( "MESH:C537501"^^xsd:string) AnnotationAssertion( "ORDO:93346"^^xsd:string) AnnotationAssertion( "SED Strudwick"^^xsd:string) AnnotationAssertion( "SEMDC"^^xsd:string) AnnotationAssertion( "SEMDSTWK"^^xsd:string) AnnotationAssertion( "SMD"^^xsd:string) AnnotationAssertion( "Semd, Strudwick type"^^xsd:string) AnnotationAssertion( "Smed, Strudwick Type"^^xsd:string) AnnotationAssertion( "Smed, Type I"^^xsd:string) AnnotationAssertion( "Strudwick syndrome"^^xsd:string) AnnotationAssertion( "dappled metaphysis syndrome"^^xsd:string) AnnotationAssertion( "spondylometaepiphyseal dysplasia congenita, Strudwick type"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia (Smd)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080028"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Strudwick type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24113144"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615768"^^xsd:string) AnnotationAssertion( "SCAR16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080029"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 16"^^xsd:string) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Missouri type) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/omim/602111"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple"^^xsd:string) "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602111"^^xsd:string) AnnotationAssertion( "MMP13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566574"^^xsd:string) AnnotationAssertion( "SEMD, Missouri type"^^xsd:string) AnnotationAssertion( "MANDP1"^^xsd:string) AnnotationAssertion( "METAPHYSEAL ANADYSPLASIA 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080030"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Missouri type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrous dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone"^^xsd:string) Annotation( "http://orthoinfo.aaos.org/topic.cfm?topic=a00083"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm"^^xsd:string) "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6444"^^xsd:string) AnnotationAssertion( "ICDO:8818/0"^^xsd:string) AnnotationAssertion( "NCI:C34609"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080031"^^xsd:string) AnnotationAssertion(rdfs:label "fibrous dysplasia"^^xsd:string) SubClassOf( ) # Class: (craniodiaphyseal dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513"^^xsd:string) "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)"^^xsd:string) AnnotationAssertion( "MIM:218300"^^xsd:string) AnnotationAssertion( "GARD:1567"^^xsd:string) AnnotationAssertion( "MESH:C562940"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080032"^^xsd:string) AnnotationAssertion(rdfs:label "craniodiaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (craniometaphyseal dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia"^^xsd:string) Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK154653/"^^xsd:string) "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS123000"^^xsd:string) AnnotationAssertion( "ORDO:1522"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080033"^^xsd:string) AnnotationAssertion(rdfs:label "craniometaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (SOST-related sclerosing bone dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/omim/269500"^^xsd:string) "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ELEVATED ALKALINE PHOSPHATASE"^^xsd:string) AnnotationAssertion( "MIM:239100"^^xsd:string) AnnotationAssertion( "VBCH"^^xsd:string) AnnotationAssertion( "endosteal hyperostosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyperostosis corticalis generalisata"^^xsd:string) AnnotationAssertion( "hyperphosphatasemia tarda"^^xsd:string) AnnotationAssertion( "van Buchem disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080036"^^xsd:string) AnnotationAssertion(rdfs:label "SOST-related sclerosing bone dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Worth syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Worth_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29709743"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4942110"^^xsd:string) "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111372"^^xsd:string) AnnotationAssertion( "MESH:C536527"^^xsd:string) AnnotationAssertion( "MIM:144750"^^xsd:string) AnnotationAssertion( "GARD:390"^^xsd:string) AnnotationAssertion( "MESH:C536748"^^xsd:string) AnnotationAssertion( "ORDO:2790"^^xsd:string) AnnotationAssertion( "Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus"^^xsd:string) AnnotationAssertion( "Worth disease"^^xsd:string) AnnotationAssertion( "Worth's syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant endosteal hyperostosis"^^xsd:string) AnnotationAssertion( "autosomal dominant osteosclerosis"^^xsd:string) AnnotationAssertion( "autosomal dominant osteosclerosis, Worth type"^^xsd:string) AnnotationAssertion( "autosomal dominant osteosclerosis, Worth type with torus palatinus"^^xsd:string) AnnotationAssertion( "benign form of Worth hyperostosis corticalis generalisata with torus platinus"^^xsd:string) AnnotationAssertion( "benign hyperostosis corticalis generalisata"^^xsd:string) AnnotationAssertion( "endosteal hyperostosis, Worth type"^^xsd:string) AnnotationAssertion( "hyperostosis corticalis generalisata congenita"^^xsd:string) AnnotationAssertion( "osteosclerosis of the skull and enlarged mandible"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080037"^^xsd:string) AnnotationAssertion(rdfs:label "Worth syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pycnodysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pycnodysostosis"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. (DO)"^^xsd:string) AnnotationAssertion( "MIM:265800"^^xsd:string) AnnotationAssertion( "GARD:4611"^^xsd:string) AnnotationAssertion( "MESH:D058631"^^xsd:string) AnnotationAssertion( "ORDO:763"^^xsd:string) AnnotationAssertion( "PKND"^^xsd:string) AnnotationAssertion( "PYCD"^^xsd:string) AnnotationAssertion( "pycnodysostoses"^^xsd:string) AnnotationAssertion( "pyknodysostoses"^^xsd:string) AnnotationAssertion( "pyknodysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080038"^^xsd:string) AnnotationAssertion(rdfs:label "pycnodysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (axial osteomalacia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Axial_osteomalacia"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/omim/109130"^^xsd:string) "An osteosclerosis that results_in coarsening located_in trabecular bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:109130"^^xsd:string) AnnotationAssertion( "GARD:8431"^^xsd:string) AnnotationAssertion( "MESH:C537791"^^xsd:string) AnnotationAssertion( "Atypical osteomalacia involving the axial skeleton"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080039"^^xsd:string) AnnotationAssertion(rdfs:label "axial osteomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrogenesis imperfecta ossium) AnnotationAssertion(Annotation( "PMID:7559718"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7559718"^^xsd:string) "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "Baker's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080040"^^xsd:string) AnnotationAssertion(rdfs:label "fibrogenesis imperfecta ossium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypochondroplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypochondroplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hypochondroplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1477/"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146000"^^xsd:string) AnnotationAssertion( "GARD:6724"^^xsd:string) AnnotationAssertion( "MESH:C562937"^^xsd:string) AnnotationAssertion( "NCI:C118697"^^xsd:string) AnnotationAssertion( "ORDO:429"^^xsd:string) AnnotationAssertion( "HCH"^^xsd:string) AnnotationAssertion( "hypochondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080041"^^xsd:string) AnnotationAssertion(rdfs:label "hypochondroplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24078737"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616204"^^xsd:string) AnnotationAssertion( "SCAR18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080042"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 18"^^xsd:string) SubClassOf( ) # Class: (achondrogenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achondrogenesis"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm"^^xsd:string) Annotation( "http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf"^^xsd:string) Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2882"^^xsd:string) AnnotationAssertion( "MESH:C579878"^^xsd:string) AnnotationAssertion( "MIM:PS200600"^^xsd:string) AnnotationAssertion( "achondrogenesis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080043"^^xsd:string) AnnotationAssertion(rdfs:label "achondrogenesis"^^xsd:string) SubClassOf( ) # Class: (hypochondrogenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypochondrogenesis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hypochondrogenesis"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/hypochondrogenesis"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563007"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080044"^^xsd:string) AnnotationAssertion(rdfs:label "hypochondrogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kniest dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/kniest-dysplasia"^^xsd:string) Annotation( "http://www.ksginfo.org/kniest.html"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156550"^^xsd:string) AnnotationAssertion( "GARD:6841"^^xsd:string) AnnotationAssertion( "MESH:C537207"^^xsd:string) AnnotationAssertion( "NCI:C125594"^^xsd:string) AnnotationAssertion( "Kniest Chondrodystrophy"^^xsd:string) AnnotationAssertion( "Kniest Syndrome"^^xsd:string) AnnotationAssertion( "Swiss Cheese Cartilage Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080045"^^xsd:string) AnnotationAssertion(rdfs:label "Kniest dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stickler syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Stickler_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/stickler-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1302/"^^xsd:string) "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10782"^^xsd:string) AnnotationAssertion( "MIM:PS108300"^^xsd:string) AnnotationAssertion( "NCI:C74984"^^xsd:string) AnnotationAssertion( "ORDO:828"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE STICKLER SYNDROME"^^xsd:string) AnnotationAssertion( "Stickler syndrome, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080046"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pseudoachondroplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pseudoachondroplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pseudoachondroplasia"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/pseudoachondroplasia"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/pseudoachondroplasia"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:177170"^^xsd:string) AnnotationAssertion( "GARD:4540"^^xsd:string) AnnotationAssertion( "MESH:C535819"^^xsd:string) AnnotationAssertion( "NCI:C118635"^^xsd:string) AnnotationAssertion( "PSACH"^^xsd:string) AnnotationAssertion( "pseudoachondroplastic dysplasia"^^xsd:string) AnnotationAssertion( "pseudoachondroplastic spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "pseudoachondroplastic spondyloepiphyseal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080047"^^xsd:string) AnnotationAssertion(rdfs:label "pseudoachondroplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acromesomelic dysplasia) AnnotationAssertion(Annotation( "http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/acromesomelic-dysplasia/"^^xsd:string) "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6"^^xsd:string) AnnotationAssertion( "MESH:C535658"^^xsd:string) AnnotationAssertion( "MIM:PS602875"^^xsd:string) AnnotationAssertion( "ORDO:93437"^^xsd:string) AnnotationAssertion( "acromesomelic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080049"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acromesomelic dysplasia, Maroteaux type) AnnotationAssertion(Annotation( "http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acromesomelic_dysplasia"^^xsd:string) "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602875"^^xsd:string) AnnotationAssertion( "GARD:507"^^xsd:string) AnnotationAssertion( "MESH:C535661"^^xsd:string) AnnotationAssertion( "ORDO:40"^^xsd:string) AnnotationAssertion( "AMD1"^^xsd:string) AnnotationAssertion( "AMDM"^^xsd:string) AnnotationAssertion( "St. Helena dysplasia"^^xsd:string) AnnotationAssertion( "acromesomelic dwarfism Maroteux type"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 1"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 1, Maroteaux type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080050"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia, Maroteaux type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acromesomelic dysplasia, Hunter-Thompson type) AnnotationAssertion(Annotation( "http://www.orpha.net/data/patho/GB/uk-hunter05.pdf"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acromesomelic_dysplasia"^^xsd:string) "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)"^^xsd:string) AnnotationAssertion( "GARD:506"^^xsd:string) AnnotationAssertion( "MIM:201250"^^xsd:string) AnnotationAssertion( "ORDO:968"^^xsd:string) AnnotationAssertion( "AMD2C"^^xsd:string) AnnotationAssertion( "AMDH"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 2C"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 2C, Hunter-Thompson type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080051"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia, Hunter-Thompson type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acromesomelic dysplasia, Grebe type) AnnotationAssertion(Annotation( "http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acromesomelic_dysplasia"^^xsd:string) "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200700"^^xsd:string) AnnotationAssertion( "GARD:1300"^^xsd:string) AnnotationAssertion( "MESH:C537915"^^xsd:string) AnnotationAssertion( "ORDO:2098"^^xsd:string) AnnotationAssertion( "AMD2A"^^xsd:string) AnnotationAssertion( "AMDG"^^xsd:string) AnnotationAssertion( "Brazilian achondrogenesis"^^xsd:string) AnnotationAssertion( "Grebe chondrodysplasia"^^xsd:string) AnnotationAssertion( "Grebe dysplasia"^^xsd:string) AnnotationAssertion( "Grebe syndrome"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia 2A"^^xsd:string) AnnotationAssertion( "chondrodysplasia, Grebe type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "achondrogenesis type II, formerly"^^xsd:string) AnnotationAssertion( "DOID:0080052"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia, Grebe type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Albright's hereditary osteodystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770"^^xsd:string) Annotation( "http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf"^^xsd:string) "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5770"^^xsd:string) AnnotationAssertion( "MIM:103580"^^xsd:string) AnnotationAssertion( "NCI:C118434"^^xsd:string) AnnotationAssertion( "Albright hereditary osteodystrophy"^^xsd:string) AnnotationAssertion( "Albright hereditary osteodystrophy with multiple hormone resistance"^^xsd:string) AnnotationAssertion( "PHP IA"^^xsd:string) AnnotationAssertion( "PHP1A"^^xsd:string) AnnotationAssertion( "pseudohypoparathyroidism type 1A"^^xsd:string) AnnotationAssertion( "pseudohypoparathyroidism, type IA"^^xsd:string) AnnotationAssertion( "PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080053"^^xsd:string) AnnotationAssertion(rdfs:label "Albright's hereditary osteodystrophy"^^xsd:string) SubClassOf( ) # Class: (achondrogenesis type IA) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achondrogenesis_type_1A"^^xsd:string) "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200600"^^xsd:string) AnnotationAssertion( "TRIP11-related condition"^^xsd:string) AnnotationAssertion( "GARD:459"^^xsd:string) AnnotationAssertion( "MESH:C536015"^^xsd:string) AnnotationAssertion( "ACG1A"^^xsd:string) AnnotationAssertion( "Achondrogenesis, Houston-Harris type"^^xsd:string) AnnotationAssertion( "Houston-Harris achondrogenesis"^^xsd:string) AnnotationAssertion( "achondrogenesis type 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080054"^^xsd:string) AnnotationAssertion(rdfs:label "achondrogenesis type IA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (achondrogenesis type IB) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achondrogenesis_type_1B"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/achondrogenesis"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1516/"^^xsd:string) "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600972"^^xsd:string) AnnotationAssertion( "RDO:0001426"^^xsd:string) AnnotationAssertion( "GARD:460"^^xsd:string) AnnotationAssertion( "MESH:C536016"^^xsd:string) AnnotationAssertion( "ACG1B"^^xsd:string) AnnotationAssertion( "Fraccaro achondrogenesis"^^xsd:string) AnnotationAssertion( "achondrogenesis type 1B"^^xsd:string) AnnotationAssertion( "achondrogenesis, Fraccaro type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080055"^^xsd:string) AnnotationAssertion(rdfs:label "achondrogenesis type IB"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (achondrogenesis type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achondrogenesis_type_2"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/achondrogenesis"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/achondrogenesis"^^xsd:string) "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200610"^^xsd:string) AnnotationAssertion( "GARD:8713"^^xsd:string) AnnotationAssertion( "MESH:C536017"^^xsd:string) AnnotationAssertion( "NCI:C3816"^^xsd:string) AnnotationAssertion( "ACG2"^^xsd:string) AnnotationAssertion( "Langer-Saldino achondrogenesis"^^xsd:string) AnnotationAssertion( "achondrogenesis type 2"^^xsd:string) AnnotationAssertion( "achondrogenesis type 2 or hypochondrogenesis"^^xsd:string) AnnotationAssertion( "achondrogenesis, Langer-Saldino type"^^xsd:string) AnnotationAssertion( "chondrogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "achondrogenesis type IB (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0080056"^^xsd:string) AnnotationAssertion(rdfs:label "achondrogenesis type II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20826435"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615705"^^xsd:string) AnnotationAssertion( "SCAR15"^^xsd:string) AnnotationAssertion( "Salih ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080057"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 15"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23236289"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002092"^^xsd:string) AnnotationAssertion( "SPTBN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615386"^^xsd:string) AnnotationAssertion( "SCAR14"^^xsd:string) AnnotationAssertion( "SPARCA1"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia, spectrin-associated, 1"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, SPTBN2-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080058"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 14"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 7) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/TPP1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26224725"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609270"^^xsd:string) AnnotationAssertion( "TPP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:12232"^^xsd:string) AnnotationAssertion( "MESH:C563753"^^xsd:string) AnnotationAssertion( "SCAR7"^^xsd:string) AnnotationAssertion( "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080059"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 7"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24369382"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614322"^^xsd:string) AnnotationAssertion( "SCAR12"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with mental retardation and epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080060"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia"^^xsd:string) Annotation( "https://www.omim.org/entry/606002"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:213200"^^xsd:string) AnnotationAssertion( "MESH:C565865"^^xsd:string) AnnotationAssertion( "CPD III"^^xsd:string) AnnotationAssertion( "CPD3"^^xsd:string) AnnotationAssertion( "Cerebellar Hypoplasia, Nonprogressive Norman Type"^^xsd:string) AnnotationAssertion( "Cerebelloparenchymal Disorder III"^^xsd:string) AnnotationAssertion( "SCAR2"^^xsd:string) AnnotationAssertion( "congenital cerebellar granular cell hypoplasia and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080061"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22901947"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. (DO)"^^xsd:string) AnnotationAssertion( "GRM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614831"^^xsd:string) AnnotationAssertion( "SCAR13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080062"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 13"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21835308"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614229"^^xsd:string) AnnotationAssertion( "SCAR11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080063"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 11"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26197978"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616127"^^xsd:string) AnnotationAssertion( "SCAR17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080064"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 17"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25205112"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616291"^^xsd:string) AnnotationAssertion( "LIKNS"^^xsd:string) AnnotationAssertion( "Lichtenstein-Knorr syndrome"^^xsd:string) AnnotationAssertion( "SCAR19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080065"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 19"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25439728"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:002034"^^xsd:string) AnnotationAssertion( "MIM:616354"^^xsd:string) AnnotationAssertion( "SCAR20"^^xsd:string) AnnotationAssertion( "SNX14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Cerebellar cortical degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080066"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 20"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 5) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12601114"^^xsd:string) "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600361"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy with pyramidal features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080067"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 6) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26168012"^^xsd:string) "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C562851"^^xsd:string) AnnotationAssertion( "CMT6"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease 6"^^xsd:string) AnnotationAssertion( "HMSN VI"^^xsd:string) AnnotationAssertion( "HMSN6"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy VI"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 6"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, type VI"^^xsd:string) AnnotationAssertion( "peripheral neuropathy and optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080068"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 6"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25491489"^^xsd:string) "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080069"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 7"^^xsd:string) SubClassOf( ) # Class: (mucolipidosis II alpha/beta) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/I-cell_disease"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16116615/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/i-cell-disease/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1828/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/"^^xsd:string) "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:252500"^^xsd:string) AnnotationAssertion( "GNPTAB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:6749"^^xsd:string) AnnotationAssertion( "MESH:C538602"^^xsd:string) AnnotationAssertion( "MESH:C567100"^^xsd:string) AnnotationAssertion( "NCI:C61270"^^xsd:string) AnnotationAssertion( "I-cell disease"^^xsd:string) AnnotationAssertion( "I-cell diseases"^^xsd:string) AnnotationAssertion( "ICD"^^xsd:string) AnnotationAssertion( "ML II"^^xsd:string) AnnotationAssertion( "ML II alpha/beta"^^xsd:string) AnnotationAssertion( "inclusion cell diseases"^^xsd:string) AnnotationAssertion( "inclusion-cell disease"^^xsd:string) AnnotationAssertion( "mcolipidosis II alpha/beta"^^xsd:string) AnnotationAssertion( "mucolipidosis 2"^^xsd:string) AnnotationAssertion( "mucolipidosis II"^^xsd:string) AnnotationAssertion( "mucolipidosis type II"^^xsd:string) AnnotationAssertion( "type II mucolipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080070"^^xsd:string) AnnotationAssertion(rdfs:label "mucolipidosis II alpha/beta"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucolipidosis III alpha/beta) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta"^^xsd:string) "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)"^^xsd:string) AnnotationAssertion( "GNPTAB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C537367"^^xsd:string) AnnotationAssertion( "MIM:252600"^^xsd:string) AnnotationAssertion( "ORDO:577"^^xsd:string) AnnotationAssertion( "ML III"^^xsd:string) AnnotationAssertion( "ML III alpha/beta"^^xsd:string) AnnotationAssertion( "ML IIIA"^^xsd:string) AnnotationAssertion( "MUCOLIPIDOSIS IIIA"^^xsd:string) AnnotationAssertion( "Mucolipidosis type 3 A"^^xsd:string) AnnotationAssertion( "mucolipidosis III"^^xsd:string) AnnotationAssertion( "mucolipidosis type III alpha/beta"^^xsd:string) AnnotationAssertion( "pseudo-Hurler polydystrophy"^^xsd:string) AnnotationAssertion( "atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080071"^^xsd:string) AnnotationAssertion(rdfs:label "mucolipidosis III alpha/beta"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intestinal pseudo-obstruction) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31848803/"^^xsd:string) "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)"^^xsd:string) AnnotationAssertion( "DOID:3878"^^xsd:string) AnnotationAssertion( "MESH:C537394"^^xsd:string) AnnotationAssertion( "EFO:1000988"^^xsd:string) AnnotationAssertion( "GARD:12744"^^xsd:string) AnnotationAssertion( "GARD:6789"^^xsd:string) AnnotationAssertion( "MESH:D007418"^^xsd:string) AnnotationAssertion( "NCI:C192634"^^xsd:string) AnnotationAssertion( "NCI:C34733"^^xsd:string) AnnotationAssertion( "ORDO:2978"^^xsd:string) AnnotationAssertion( "Chronic intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "Idiopathic Intestinal Pseudo-Obstruction"^^xsd:string) AnnotationAssertion( "Intestinal Pseudoobstruction"^^xsd:string) AnnotationAssertion( "Intestinal Pseudoobstructions"^^xsd:string) AnnotationAssertion( "Intestinal pseudoobstruction due to neuronal disease"^^xsd:string) AnnotationAssertion( "Neuronal Intestinal Pseudoobstruction"^^xsd:string) AnnotationAssertion( "chronic idiopathic intestinal pseudo-obstruction"^^xsd:string) AnnotationAssertion( "chronic intestinal pseudo-obstruction"^^xsd:string) AnnotationAssertion( "deficiency of argyrophil myenteric plexus"^^xsd:string) AnnotationAssertion( "enteric neuropathy"^^xsd:string) AnnotationAssertion( "familial visceral neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "idiopathic intestinal pseudo-obstructions"^^xsd:string) AnnotationAssertion( "intestinal pseudo-obstructions"^^xsd:string) AnnotationAssertion( "intestine pseudoobstruction"^^xsd:string) AnnotationAssertion( "neuronal intestinal dysplasia"^^xsd:string) AnnotationAssertion( "pseudo-obstruction of intestine"^^xsd:string) AnnotationAssertion( "pseudointestinal obstruction syndrome"^^xsd:string) AnnotationAssertion( "pseudoobstruction, chronic idiopathic intestinal, neuronal type"^^xsd:string) AnnotationAssertion( "pseudoobstructive syndrome"^^xsd:string) AnnotationAssertion( "visceral myopathies"^^xsd:string) AnnotationAssertion( "visceral myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080072"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal pseudo-obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spina bifida occulta) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta"^^xsd:string) "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016136"^^xsd:string) AnnotationAssertion( "closed spinal bifida"^^xsd:string) AnnotationAssertion( "dermal sinus"^^xsd:string) AnnotationAssertion( "occult spina bifida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080073"^^xsd:string) AnnotationAssertion(rdfs:label "spina bifida occulta"^^xsd:string) SubClassOf( ) # Class: (neural tube defect) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neural_tube_defect"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK555903/"^^xsd:string) "A physical disorder characterized by incomplete closure of the neural tube. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182940"^^xsd:string) AnnotationAssertion( "MIM:222500"^^xsd:string) AnnotationAssertion( "GARD:4016"^^xsd:string) AnnotationAssertion( "MESH:D009436"^^xsd:string) AnnotationAssertion( "Acrania"^^xsd:string) AnnotationAssertion( "Craniorachischisis"^^xsd:string) AnnotationAssertion( "Diastematomyelia"^^xsd:string) AnnotationAssertion( "Diastematomyelias"^^xsd:string) AnnotationAssertion( "Exencephalies"^^xsd:string) AnnotationAssertion( "Exencephaly"^^xsd:string) AnnotationAssertion( "Iniencephalies"^^xsd:string) AnnotationAssertion( "Iniencephaly"^^xsd:string) AnnotationAssertion( "NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NTD"^^xsd:string) AnnotationAssertion( "Neurenteric Cyst"^^xsd:string) AnnotationAssertion( "Neurenteric Cysts"^^xsd:string) AnnotationAssertion( "Neuroenteric Cyst"^^xsd:string) AnnotationAssertion( "Neuroenteric Cysts"^^xsd:string) AnnotationAssertion( "Spinal Cord Myelodysplasia"^^xsd:string) AnnotationAssertion( "acranias"^^xsd:string) AnnotationAssertion( "craniorachischises"^^xsd:string) AnnotationAssertion( "developmental neural tube defects"^^xsd:string) AnnotationAssertion( "neural tube defects"^^xsd:string) AnnotationAssertion( "spinal cord myelodysplasias"^^xsd:string) AnnotationAssertion( "SPINA BIFIDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080074"^^xsd:string) AnnotationAssertion(rdfs:label "neural tube defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neu-Laxova syndrome 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616038"^^xsd:string) "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003580"^^xsd:string) AnnotationAssertion( "PSAT1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616038"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080075"^^xsd:string) AnnotationAssertion(rdfs:label "Neu-Laxova syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neu-Laxova syndrome 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/256520"^^xsd:string) "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256520"^^xsd:string) AnnotationAssertion( "MESH:C536405"^^xsd:string) AnnotationAssertion( "RDO:0001986"^^xsd:string) AnnotationAssertion( "NLS"^^xsd:string) AnnotationAssertion( "NLS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080076"^^xsd:string) AnnotationAssertion(rdfs:label "Neu-Laxova syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypophosphatemic nephrolithiasis/osteoporosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12324554"^^xsd:string) "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612286"^^xsd:string) AnnotationAssertion( "MESH:C567363"^^xsd:string) AnnotationAssertion( "NPHLOP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080077"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypophosphatemic nephrolithiasis/osteoporosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31364377/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18784102"^^xsd:string) Annotation( "https://www.nejm.org/doi/full/10.1056/NEJMoa020028"^^xsd:string) "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612287"^^xsd:string) AnnotationAssertion( "MESH:C567362"^^xsd:string) AnnotationAssertion( "NPHLOP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080078"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080088"^^xsd:string) AnnotationAssertion( "MIM:161050"^^xsd:string) AnnotationAssertion( "MESH:C562907"^^xsd:string) AnnotationAssertion( "ORDO:280654"^^xsd:string) AnnotationAssertion( "ORDO:79153"^^xsd:string) AnnotationAssertion( "ISOLATED NAIL ANOMALY"^^xsd:string) AnnotationAssertion( "NDNC10"^^xsd:string) AnnotationAssertion( "claw-shaped nails"^^xsd:string) AnnotationAssertion( "isolated onychodystrophy totalis"^^xsd:string) AnnotationAssertion( "nonsyndromic congenital nail disorder 10"^^xsd:string) AnnotationAssertion( "twenty-nail dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080079"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:149300"^^xsd:string) AnnotationAssertion( "KOILONYCHIA, HEREDITARY"^^xsd:string) AnnotationAssertion( "NDNC2"^^xsd:string) AnnotationAssertion( "SPOON NAILS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080080"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. (DO)"^^xsd:string) AnnotationAssertion( "MIM:151600"^^xsd:string) AnnotationAssertion( "MONDO:0007900"^^xsd:string) AnnotationAssertion( "LEUKONYCHIA TOTALIS AND/OR PARTIALIS"^^xsd:string) AnnotationAssertion( "NDNC3"^^xsd:string) AnnotationAssertion( "LEUKONYCHIA PUNCTATA"^^xsd:string) AnnotationAssertion( "PORCELAIN NAILS LEUKONYCHIA STRIATUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080081"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 4) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/anonychia-congenita"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0050643"^^xsd:string) AnnotationAssertion( "MIM:206800"^^xsd:string) AnnotationAssertion( "GARD:12930"^^xsd:string) AnnotationAssertion( "MESH:C536377"^^xsd:string) AnnotationAssertion( "ANONYCHIA TOTALIS"^^xsd:string) AnnotationAssertion( "ANONYCHIA/HYPONYCHIA CONGENITA"^^xsd:string) AnnotationAssertion( "Anonychia"^^xsd:string) AnnotationAssertion( "Hyponychia congenita"^^xsd:string) AnnotationAssertion( "NDNC4"^^xsd:string) AnnotationAssertion( "anonychia congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080082"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:164800"^^xsd:string) AnnotationAssertion( "MESH:C563503"^^xsd:string) AnnotationAssertion( "NDNC5"^^xsd:string) AnnotationAssertion( "Partial Onycholysis with Scleronychia"^^xsd:string) AnnotationAssertion( "hereditary distal onycholysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080083"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:107000"^^xsd:string) AnnotationAssertion( "ANONYCHIA, PARTIAL"^^xsd:string) AnnotationAssertion( "ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY"^^xsd:string) AnnotationAssertion( "NDNC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080084"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605779"^^xsd:string) AnnotationAssertion( "MESH:C538333"^^xsd:string) AnnotationAssertion( "NDNC7"^^xsd:string) AnnotationAssertion( "Nail Dysplasia, Isolated Congenital"^^xsd:string) AnnotationAssertion( "Onychodysplasia, Isolated Congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080085"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607523"^^xsd:string) AnnotationAssertion( "MESH:C564384"^^xsd:string) AnnotationAssertion( "NDNC8"^^xsd:string) AnnotationAssertion( "isolated toenail dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080086"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614149"^^xsd:string) AnnotationAssertion( "ANONYCHIA-ONYCHOLYSIS, ISOLATED"^^xsd:string) AnnotationAssertion( "NAIL DYSPLASIA"^^xsd:string) AnnotationAssertion( "NDNC9"^^xsd:string) AnnotationAssertion( "ONYCHODYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080087"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (tubular aggregate myopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/"^^xsd:string) "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:160565"^^xsd:string) AnnotationAssertion( "TAM1"^^xsd:string) AnnotationAssertion( "autosomal dominant myotubular myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080089"^^xsd:string) AnnotationAssertion(rdfs:label "tubular aggregate myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reducing body myopathy 1A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17099882/"^^xsd:string) "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300717"^^xsd:string) AnnotationAssertion( "MESH:C567469"^^xsd:string) AnnotationAssertion( "RBMX1A"^^xsd:string) AnnotationAssertion( "severe X-linked reducing body myopathy 1A with infantile or early childhood onset"^^xsd:string) AnnotationAssertion( "severe X-linked reducing body myopathy, early-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080090"^^xsd:string) AnnotationAssertion(rdfs:label "reducing body myopathy 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (myofibrillar myopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23687351"^^xsd:string) Annotation( "https://www.omim.org/entry/601419"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110286"^^xsd:string) AnnotationAssertion( "MESH:C563319"^^xsd:string) AnnotationAssertion( "MESH:C563784"^^xsd:string) AnnotationAssertion( "MIM:601419"^^xsd:string) AnnotationAssertion( "ORDO:363543"^^xsd:string) AnnotationAssertion( "ORDO:98909"^^xsd:string) AnnotationAssertion( "ARVC7"^^xsd:string) AnnotationAssertion( "ARVD7"^^xsd:string) AnnotationAssertion( "DESMIN-related myofibrillar myopathy"^^xsd:string) AnnotationAssertion( "DESMINOPATHY, PRIMARY"^^xsd:string) AnnotationAssertion( "DRM"^^xsd:string) AnnotationAssertion( "Desmin-Related Myopathy"^^xsd:string) AnnotationAssertion( "Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy"^^xsd:string) AnnotationAssertion( "IBM1"^^xsd:string) AnnotationAssertion( "MFM1"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 7"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular dysplasia, familial, 7"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy type 2R"^^xsd:string) AnnotationAssertion( "desminopathy"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy 1F"^^xsd:string) AnnotationAssertion( "inclusion body myopathy 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy"^^xsd:string) AnnotationAssertion( "PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDCD3"^^xsd:string) AnnotationAssertion( "CMD1F and LGMD1D"^^xsd:string) AnnotationAssertion( "DESMIN-MYOPATHY"^^xsd:string) AnnotationAssertion( "DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "LGMD2R"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with conduction defect and muscular dystrophy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2R"^^xsd:string) AnnotationAssertion( "DOID:0080092"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/608810"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608810"^^xsd:string) AnnotationAssertion( "MESH:C563848"^^xsd:string) AnnotationAssertion( "ORDO:399058"^^xsd:string) AnnotationAssertion( "Alpha-B Crystallinopathy"^^xsd:string) AnnotationAssertion( "MFM2"^^xsd:string) AnnotationAssertion( "Myopathy, Cardioskeletal, Desmin-Related, with Cataract"^^xsd:string) AnnotationAssertion( "desmin-related myopathy, associated with mutation in the CRYAB gene"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy, alpha-B crystallin-related"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy, with or without cataract and/or cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080093"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10958653/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16380616/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30055862/"^^xsd:string) Annotation( "https://www.omim.org/entry/609200"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080091"^^xsd:string) AnnotationAssertion( "DOID:0110300"^^xsd:string) AnnotationAssertion( "MESH:C000598645"^^xsd:string) AnnotationAssertion( "MESH:C535906"^^xsd:string) AnnotationAssertion( "MESH:C563775"^^xsd:string) AnnotationAssertion( "GARD:10229"^^xsd:string) AnnotationAssertion( "GARD:8711"^^xsd:string) AnnotationAssertion( "MIM:609200"^^xsd:string) AnnotationAssertion( "ORDO:266"^^xsd:string) AnnotationAssertion( "ORDO:268129"^^xsd:string) AnnotationAssertion( "LGMD 1A"^^xsd:string) AnnotationAssertion( "LGMD1"^^xsd:string) AnnotationAssertion( "LGMD1A"^^xsd:string) AnnotationAssertion( "MFM3"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1A"^^xsd:string) AnnotationAssertion( "autosomal dominant spheroid body myopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to myotilin deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1A"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle, type1A"^^xsd:string) AnnotationAssertion( "muscular dystrophy, proximal, type 1A"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy, myotilin-related"^^xsd:string) AnnotationAssertion( "myotilinopathy"^^xsd:string) AnnotationAssertion( "spheroid body myopathy"^^xsd:string) AnnotationAssertion( "URINARY BLADDER SPHINCTER DYSFUNCTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080094"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/609452"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)"^^xsd:string) AnnotationAssertion( "LDB3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:609452"^^xsd:string) AnnotationAssertion( "MARKESBERY-GRIGGS DISTAL MYOPATHY"^^xsd:string) AnnotationAssertion( "MFM4"^^xsd:string) AnnotationAssertion( "zaspopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080095"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/609524"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609524"^^xsd:string) AnnotationAssertion( "FLNB-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C537932"^^xsd:string) AnnotationAssertion( "MFM, filamin C-related"^^xsd:string) AnnotationAssertion( "MFM5"^^xsd:string) AnnotationAssertion( "filamin C-related myofibrillar myopathy"^^xsd:string) AnnotationAssertion( "filaminopathy"^^xsd:string) AnnotationAssertion( "filaminopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080096"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 6) AnnotationAssertion(Annotation( "https://www.omim.org/entry/612954"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612954"^^xsd:string) AnnotationAssertion( "RDO:0009733"^^xsd:string) AnnotationAssertion( "RDO:0015757"^^xsd:string) AnnotationAssertion( "BAG3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567843"^^xsd:string) AnnotationAssertion( "BAG3-related myofibrillar myopathy"^^xsd:string) AnnotationAssertion( "MFM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080097"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 7) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617114"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617114"^^xsd:string) AnnotationAssertion( "MFM7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080098"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myopathy, lactic acidosis, and sideroblastic anemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/"^^xsd:string) "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536101"^^xsd:string) AnnotationAssertion( "MIM:PS600462"^^xsd:string) AnnotationAssertion( "ORDO:2598"^^xsd:string) AnnotationAssertion( "HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS"^^xsd:string) AnnotationAssertion( "MLASA"^^xsd:string) AnnotationAssertion( "Mitochondrial myopathy and sideroblastic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080099"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Compton-North congenital myopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19026398/"^^xsd:string) "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612540"^^xsd:string) AnnotationAssertion( "MESH:C567261"^^xsd:string) AnnotationAssertion( "ORDO:210163"^^xsd:string) AnnotationAssertion( "CMYP12"^^xsd:string) AnnotationAssertion( "MYPCN"^^xsd:string) AnnotationAssertion( "congenital myopathy 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080101"^^xsd:string) AnnotationAssertion(rdfs:label "Compton-North congenital myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 4A) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion"^^xsd:string) "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:255310"^^xsd:string) AnnotationAssertion( "NCI:C120046"^^xsd:string) AnnotationAssertion( "CFTD"^^xsd:string) AnnotationAssertion( "SEPN1-related disorders"^^xsd:string) AnnotationAssertion( "SEVERE NEONATAL HYPOTONIA IMPROVING WITH AGE"^^xsd:string) AnnotationAssertion( "congenital fiber-type disproportion"^^xsd:string) AnnotationAssertion( "congenital myopathy with fiber-type disproportion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080102"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cylindrical spirals myopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy"^^xsd:string) "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160990"^^xsd:string) AnnotationAssertion( "GARD:11906"^^xsd:string) AnnotationAssertion( "MESH:C563535"^^xsd:string) AnnotationAssertion( "myotonic myopathy with cylindrical spirals"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080103"^^xsd:string) AnnotationAssertion(rdfs:label "cylindrical spirals myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcephaly and chorioretinopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string) "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251270"^^xsd:string) AnnotationAssertion( "MESH:C565379"^^xsd:string) AnnotationAssertion( "MCCRP1"^^xsd:string) AnnotationAssertion( "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1"^^xsd:string) AnnotationAssertion( "Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "microcephaly and chorioretinopathy with or without mental retardation"^^xsd:string) AnnotationAssertion( "microcephaly with chorioretinopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080105"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly and chorioretinopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcephaly and chorioretinopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string) "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001672"^^xsd:string) AnnotationAssertion( "MIM:616171"^^xsd:string) AnnotationAssertion( "MCCRP2"^^xsd:string) AnnotationAssertion( "Microcephaly and Chorioretinopathy, Autosomal Recessive, 2"^^xsd:string) AnnotationAssertion( "PLK4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080106"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly and chorioretinopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcephaly and chorioretinopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25344692"^^xsd:string) "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000425"^^xsd:string) AnnotationAssertion( "MIM:616335"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME"^^xsd:string) AnnotationAssertion( "MCCRP3"^^xsd:string) AnnotationAssertion( "Microcephaly and Chorioretinopathy, Autosomal Recessive, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080107"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly and chorioretinopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoglobinuria) AnnotationAssertion(Annotation( "https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9098484"^^xsd:string) "A myopathy that is characterized by an increased urinary excretion of myoglobin. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005068"^^xsd:string) AnnotationAssertion( "MESH:D009212"^^xsd:string) AnnotationAssertion( "myoglobinurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080108"^^xsd:string) AnnotationAssertion(rdfs:label "myoglobinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile myofibromatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27259011/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23731542"^^xsd:string) "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2998"^^xsd:string) AnnotationAssertion( "MESH:C562978"^^xsd:string) AnnotationAssertion( "MIM:PS228550"^^xsd:string) AnnotationAssertion( "ORDO:2591"^^xsd:string) AnnotationAssertion( "CGF"^^xsd:string) AnnotationAssertion( "congenital generalized fibromatosis"^^xsd:string) AnnotationAssertion( "juvenile myofibromatosis"^^xsd:string) AnnotationAssertion( "lipofibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080109"^^xsd:string) AnnotationAssertion(rdfs:label "infantile myofibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (contractures, pterygia, and spondylocarpotarsal fusion syndrome) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25957469"^^xsd:string) "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000643"^^xsd:string) AnnotationAssertion( "MIM:265000"^^xsd:string) AnnotationAssertion( "CHRNG-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C537377"^^xsd:string) AnnotationAssertion( "MIM:PS178110"^^xsd:string) AnnotationAssertion( "Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes"^^xsd:string) AnnotationAssertion( "EVMPS"^^xsd:string) AnnotationAssertion( "Escobar syndrome"^^xsd:string) AnnotationAssertion( "familial pterygium syndrome"^^xsd:string) AnnotationAssertion( "multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "multiple pterygium syndrome, Escobar type"^^xsd:string) AnnotationAssertion( "multiple pterygium syndrome, Escobar variant"^^xsd:string) AnnotationAssertion( "multiple pterygium syndrome, nonlethal type"^^xsd:string) AnnotationAssertion( "pterygium colli syndrome"^^xsd:string) AnnotationAssertion( "pterygium syndrome"^^xsd:string) AnnotationAssertion( "pterygium universale"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080110"^^xsd:string) AnnotationAssertion(rdfs:label "contractures, pterygia, and spondylocarpotarsal fusion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 1) AnnotationAssertion(Annotation( "http://omim.org/entry/124000?search=124000&highlight=124000"^^xsd:string) "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:124000"^^xsd:string) AnnotationAssertion( "BCS1L-related disorder"^^xsd:string) AnnotationAssertion( "DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III"^^xsd:string) AnnotationAssertion( "MESH:C565128"^^xsd:string) AnnotationAssertion( "MC3DN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080111"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 1"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 3) AnnotationAssertion(Annotation( "http://omim.org/entry/615158?search=615158&highlight=615158"^^xsd:string) "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615158"^^xsd:string) AnnotationAssertion( "MC3DN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080112"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 3"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 4) AnnotationAssertion(Annotation( "http://omim.org/entry/615159?search=615159&highlight=615159"^^xsd:string) "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615159"^^xsd:string) AnnotationAssertion( "MC3DN4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080113"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 4"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 5) AnnotationAssertion(Annotation( "http://omim.org/entry/615160?search=615160&highlight=615160"^^xsd:string) "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615160"^^xsd:string) AnnotationAssertion( "MC3DN5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080114"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 5"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 6) AnnotationAssertion(Annotation( "http://omim.org/entry/615453?search=615453&highlight=615453"^^xsd:string) "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615453"^^xsd:string) AnnotationAssertion( "MC3DN6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080115"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 6"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 7) AnnotationAssertion(Annotation( "http://omim.org/entry/615824?search=615824&highlight=615824"^^xsd:string) "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615824"^^xsd:string) AnnotationAssertion( "MC3DN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080116"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 7"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 8) AnnotationAssertion(Annotation( "http://omim.org/entry/615838?search=615838&highlight=615838"^^xsd:string) "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615838"^^xsd:string) AnnotationAssertion( "MC3DN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080117"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 8"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency nuclear type 9) AnnotationAssertion(Annotation( "http://omim.org/entry/616111?search=616111&highlight=616111"^^xsd:string) "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616111"^^xsd:string) AnnotationAssertion( "MC3DN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080118"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency nuclear type 9"^^xsd:string) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19056268"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301358"^^xsd:string) Annotation( "https://www.omim.org/entry/603041"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9920"^^xsd:string) AnnotationAssertion( "MIM:603041"^^xsd:string) AnnotationAssertion( "NCI:C11967"^^xsd:string) AnnotationAssertion( "ORDO:298"^^xsd:string) AnnotationAssertion( "MNGIE, TYMP-related"^^xsd:string) AnnotationAssertion( "MTDPS1"^^xsd:string) AnnotationAssertion( "TYMP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 1 (MNGIE type)"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080119"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2881246"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29735374"^^xsd:string) Annotation( "https://www.omim.org/entry/609560"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609560"^^xsd:string) AnnotationAssertion( "NCI:C185236"^^xsd:string) AnnotationAssertion( "ORDO:254875"^^xsd:string) AnnotationAssertion( "MTDPS2"^^xsd:string) AnnotationAssertion( "TK2-related mitochondrial DNA depletion syndrome, myopathic form"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion myopathy, TK2-related"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 2 (myopathic type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080120"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24423689"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30589726"^^xsd:string) Annotation( "https://www.omim.org/entry/251880"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13644"^^xsd:string) AnnotationAssertion( "MIM:251880"^^xsd:string) AnnotationAssertion( "ORDO:279934"^^xsd:string) AnnotationAssertion( "MTDPS3"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 3, hepatocerebral"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080121"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alpers-Huttenlocher syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30103161"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30451971"^^xsd:string) Annotation( "https://www.omim.org/entry/203700"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:1442"^^xsd:string) AnnotationAssertion( "MIM:203700"^^xsd:string) AnnotationAssertion( "GARD:5783"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.81"^^xsd:string) AnnotationAssertion( "MESH:D002549"^^xsd:string) AnnotationAssertion( "NCI:C35257"^^xsd:string) AnnotationAssertion( "ORDO:726"^^xsd:string) AnnotationAssertion( "Alper disease"^^xsd:string) AnnotationAssertion( "Alper syndrome"^^xsd:string) AnnotationAssertion( "Alper's disease"^^xsd:string) AnnotationAssertion( "Alper's syndrome"^^xsd:string) AnnotationAssertion( "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis"^^xsd:string) AnnotationAssertion( "Alpers disease"^^xsd:string) AnnotationAssertion( "Alpers progressive infantile poliodystrophy"^^xsd:string) AnnotationAssertion( "Alpers syndrome"^^xsd:string) AnnotationAssertion( "Alpers' disease or gray-matter degeneration"^^xsd:string) AnnotationAssertion( "Diffuse Cerebral Sclerosis"^^xsd:string) AnnotationAssertion( "Diffuse Cerebral Sclerosis of Schilder"^^xsd:string) AnnotationAssertion( "Encephalitis Periaxialis"^^xsd:string) AnnotationAssertion( "Encephalitis Periaxialis Concentrica"^^xsd:string) AnnotationAssertion( "Encephalitis Periaxialis Diffusa"^^xsd:string) AnnotationAssertion( "MTDPS4A"^^xsd:string) AnnotationAssertion( "Myelinoclastic Diffuse Scleroses"^^xsd:string) AnnotationAssertion( "PNDC"^^xsd:string) AnnotationAssertion( "Schilder disease"^^xsd:string) AnnotationAssertion( "Schilder's disease"^^xsd:string) AnnotationAssertion( "Schilders disease"^^xsd:string) AnnotationAssertion( "diffuse cerebral scleroses"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 4A"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 4A (Alpers type)"^^xsd:string) AnnotationAssertion( "myelinoclastic diffuse sclerosis"^^xsd:string) AnnotationAssertion( "poliodystrophia cerebri"^^xsd:string) AnnotationAssertion( "progressive neuronal degeneration of childhood with liver disease"^^xsd:string) AnnotationAssertion( "progressive sclerosing poliodystrophies"^^xsd:string) AnnotationAssertion( "progressive sclerosing poliodystrophy"^^xsd:string) AnnotationAssertion( "sudanophilic cerebral sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080122"^^xsd:string) AnnotationAssertion(rdfs:label "Alpers-Huttenlocher syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 4B) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30385167"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30395865"^^xsd:string) Annotation( "https://www.omim.org/entry/613662"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613662"^^xsd:string) AnnotationAssertion( "MNGIE, POLG-related"^^xsd:string) AnnotationAssertion( "MTDPS4B"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 4B (MNGIE type)"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080123"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 4B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 5) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24986829"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26952923"^^xsd:string) Annotation( "https://www.omim.org/entry/612073"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612073"^^xsd:string) AnnotationAssertion( "MESH:C567624"^^xsd:string) AnnotationAssertion( "MTDPS5"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080124"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 6) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29282788"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30298599"^^xsd:string) Annotation( "https://www.omim.org/entry/256810"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256810"^^xsd:string) AnnotationAssertion( "GARD:3972"^^xsd:string) AnnotationAssertion( "MESH:C538344"^^xsd:string) AnnotationAssertion( "ORDO:255229"^^xsd:string) AnnotationAssertion( "MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT"^^xsd:string) AnnotationAssertion( "MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome"^^xsd:string) AnnotationAssertion( "MPV17-associated hepatocerebral MDS"^^xsd:string) AnnotationAssertion( "MTDPS6"^^xsd:string) AnnotationAssertion( "NNH"^^xsd:string) AnnotationAssertion( "Navajo Familial Neurogenic Arthropathy"^^xsd:string) AnnotationAssertion( "Navajo neurohepatopathy"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"^^xsd:string) AnnotationAssertion( "NAVAJO NEUROPATHY"^^xsd:string) AnnotationAssertion( "NN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080125"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 7) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18775955"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30391088"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050556"^^xsd:string) AnnotationAssertion( "MIM:271245"^^xsd:string) AnnotationAssertion( "RDO:0000683"^^xsd:string) AnnotationAssertion( "RDO:0008489"^^xsd:string) AnnotationAssertion( "RDO:9004561"^^xsd:string) AnnotationAssertion( "GARD:4062"^^xsd:string) AnnotationAssertion( "MESH:C535523"^^xsd:string) AnnotationAssertion( "IOSCA"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL HEPATOPATHY"^^xsd:string) AnnotationAssertion( "MTDPS7"^^xsd:string) AnnotationAssertion( "OHAHA syndrome"^^xsd:string) AnnotationAssertion( "infantile onset spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"^^xsd:string) AnnotationAssertion( "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis"^^xsd:string) AnnotationAssertion( "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia infantile with sensory neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SCA8 (formerly)"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 8 (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0080126"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 8A) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24741716"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30439532"^^xsd:string) Annotation( "https://www.omim.org/entry/612075"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612075"^^xsd:string) AnnotationAssertion( "RRM2B-related mitochondrial disease"^^xsd:string) AnnotationAssertion( "GARD:13200"^^xsd:string) AnnotationAssertion( "MESH:C537477"^^xsd:string) AnnotationAssertion( "MNGIE Disease"^^xsd:string) AnnotationAssertion( "MNGIE without leukoencephalopathy"^^xsd:string) AnnotationAssertion( "MTDPS8A"^^xsd:string) AnnotationAssertion( "Mitochondrial Neurogastrointestinal Encephalopathy Disease"^^xsd:string) AnnotationAssertion( "Mitochondrial Neurogastrointestinal Encephalopathy Syndrome"^^xsd:string) AnnotationAssertion( "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction"^^xsd:string) AnnotationAssertion( "oculogastrointestinal muscular dystrophy"^^xsd:string) AnnotationAssertion( "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction"^^xsd:string) AnnotationAssertion( "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "thymidine phosphorylase deficiency"^^xsd:string) AnnotationAssertion( "MNGIE, RRM2B-related"^^xsd:string) AnnotationAssertion( "encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080127"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 8A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 9) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29217198"^^xsd:string) Annotation( "https://www.omim.org/entry/245400"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566885"^^xsd:string) AnnotationAssertion( "MIM:245400"^^xsd:string) AnnotationAssertion( "NCI:C183531"^^xsd:string) AnnotationAssertion( "ORDO:17"^^xsd:string) AnnotationAssertion( "MTDPS9"^^xsd:string) AnnotationAssertion( "Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria)"^^xsd:string) AnnotationAssertion( "fatal infantile lactic acidosis"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080128"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23313956"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.omim.org/entry/615084"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000571"^^xsd:string) AnnotationAssertion( "MIM:615084"^^xsd:string) AnnotationAssertion( "ORDO:352447"^^xsd:string) AnnotationAssertion( "MTDPS11"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia-myopathy-emaciation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080129"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 12a) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27693233"^^xsd:string) Annotation( "https://www.omim.org/entry/617184"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000942"^^xsd:string) AnnotationAssertion( "RDO:9001714"^^xsd:string) AnnotationAssertion( "MTDPS12"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12"^^xsd:string) AnnotationAssertion( "MIM:617184"^^xsd:string) AnnotationAssertion( "NCI:C129977"^^xsd:string) AnnotationAssertion( "MTDPS12A"^^xsd:string) AnnotationAssertion( "autosomal dominant mitochondrial DNA depletion syndrome-12A"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080130"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 12a"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 13) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26404457"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28940506"^^xsd:string) Annotation( "https://www.omim.org/entry/615471"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000956"^^xsd:string) AnnotationAssertion( "GARD:13298"^^xsd:string) AnnotationAssertion( "MIM:615471"^^xsd:string) AnnotationAssertion( "NCI:C172095"^^xsd:string) AnnotationAssertion( "ORDO:369897"^^xsd:string) AnnotationAssertion( "FBXL4 deficiency"^^xsd:string) AnnotationAssertion( "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome"^^xsd:string) AnnotationAssertion( "MTDPS13"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080131"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sengers syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sengers_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28712724"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29682452"^^xsd:string) Annotation( "https://www.omim.org/entry/212350"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212350"^^xsd:string) AnnotationAssertion( "RDO:0004242"^^xsd:string) AnnotationAssertion( "GARD:1142"^^xsd:string) AnnotationAssertion( "MESH:C538280"^^xsd:string) AnnotationAssertion( "MTDPS10"^^xsd:string) AnnotationAssertion( "cataract and cardiomyopathy"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 10"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)"^^xsd:string) AnnotationAssertion( "AGK-related disorder"^^xsd:string) AnnotationAssertion( "AGK-related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080132"^^xsd:string) AnnotationAssertion(rdfs:label "Sengers syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22077971"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28470589"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29441221"^^xsd:string) Annotation( "https://www.omim.org/entry/605711"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605711"^^xsd:string) AnnotationAssertion( "ORDO:401869"^^xsd:string) AnnotationAssertion( "MMDS1"^^xsd:string) AnnotationAssertion( "NFU1 deficiency"^^xsd:string) AnnotationAssertion( "NFU1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080133"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22562699"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24334290"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29654549"^^xsd:string) Annotation( "https://www.omim.org/entry/614299"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614299"^^xsd:string) AnnotationAssertion( "ORDO:401874"^^xsd:string) AnnotationAssertion( "BOLA3 deficiency"^^xsd:string) AnnotationAssertion( "MMDS2"^^xsd:string) AnnotationAssertion( "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080134"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27785568"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28671726"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28913435"^^xsd:string) Annotation( "https://www.omim.org/entry/615330"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615330"^^xsd:string) AnnotationAssertion( "ORDO:363424"^^xsd:string) AnnotationAssertion( "IBA57 deficiency"^^xsd:string) AnnotationAssertion( "MMDS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080135"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25539947"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29122497"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29297947"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29359243"^^xsd:string) Annotation( "https://www.omim.org/entry/616370"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616370"^^xsd:string) AnnotationAssertion( "ORDO:457406"^^xsd:string) AnnotationAssertion( "MMDS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080136"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple endocrine neoplasia type 4) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610755"^^xsd:string) AnnotationAssertion( "MESH:C567059"^^xsd:string) AnnotationAssertion( "MEN4"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia, type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080137"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple congenital anomalies-hypotonia-seizures syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21493957"^^xsd:string) "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000575"^^xsd:string) AnnotationAssertion( "MIM:614080"^^xsd:string) AnnotationAssertion( "NCI:C176896"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3"^^xsd:string) AnnotationAssertion( "GPIBD3"^^xsd:string) AnnotationAssertion( "MCAHS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080138"^^xsd:string) AnnotationAssertion(rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple congenital anomalies-hypotonia-seizures syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10441586"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22305531"^^xsd:string) "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080466"^^xsd:string) AnnotationAssertion( "GARD:12777"^^xsd:string) AnnotationAssertion( "MIM:300868"^^xsd:string) AnnotationAssertion( "ORDO:300496"^^xsd:string) AnnotationAssertion( "DEE20"^^xsd:string) AnnotationAssertion( "EIEE20"^^xsd:string) AnnotationAssertion( "GPIBD4"^^xsd:string) AnnotationAssertion( "MCAHS2"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 20"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 20"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080139"^^xsd:string) AnnotationAssertion(rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple congenital anomalies-hypotonia-seizures syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36177944/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21493957"^^xsd:string) "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001439"^^xsd:string) AnnotationAssertion( "PIGT-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566367"^^xsd:string) AnnotationAssertion( "MIM:615398"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7"^^xsd:string) AnnotationAssertion( "GPIBD7"^^xsd:string) AnnotationAssertion( "Light Fixation Seizure Syndrome"^^xsd:string) AnnotationAssertion( "M Syndrome"^^xsd:string) AnnotationAssertion( "MCAHS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080140"^^xsd:string) AnnotationAssertion(rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mosaic variegated aneuploidy syndrome 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome"^^xsd:string) "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257300"^^xsd:string) AnnotationAssertion( "NCI:C128192"^^xsd:string) AnnotationAssertion( "MVA syndrome"^^xsd:string) AnnotationAssertion( "MVA1"^^xsd:string) AnnotationAssertion( "chromosomal mosaicism due to mitotic instability"^^xsd:string) AnnotationAssertion( "instability mitotic non disjunction syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080141"^^xsd:string) AnnotationAssertion(rdfs:label "mosaic variegated aneuploidy syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mosaic variegated aneuploidy syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21552266/"^^xsd:string) "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614114"^^xsd:string) AnnotationAssertion( "NCI:C168989"^^xsd:string) AnnotationAssertion( "MVA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080142"^^xsd:string) AnnotationAssertion(rdfs:label "mosaic variegated aneuploidy syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1348/"^^xsd:string) "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001985"^^xsd:string) AnnotationAssertion( "GARD:12590"^^xsd:string) AnnotationAssertion( "MESH:C580012"^^xsd:string) AnnotationAssertion( "MIM:PS135700"^^xsd:string) AnnotationAssertion( "ORDO:45358"^^xsd:string) AnnotationAssertion( "CFEOM"^^xsd:string) AnnotationAssertion( "congenital external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles"^^xsd:string) AnnotationAssertion( "congenital fibrosis syndrome"^^xsd:string) AnnotationAssertion( "congenital ophthalmoplegia"^^xsd:string) AnnotationAssertion( "general fibrosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080143"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood acute lymphocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null"^^xsd:string) "An acute lymphocytic leukemia occurring during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9835/3"^^xsd:string) AnnotationAssertion( "MONDO:0000870"^^xsd:string) AnnotationAssertion( "NCI:C3168"^^xsd:string) AnnotationAssertion( "childhood ALL"^^xsd:string) AnnotationAssertion( "childhood acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080144"^^xsd:string) AnnotationAssertion(rdfs:label "childhood acute lymphocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (childhood T-cell acute lymphoblastic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953"^^xsd:string) "A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:7933"^^xsd:string) AnnotationAssertion( "EFO:0000207"^^xsd:string) AnnotationAssertion( "EFO:1001947"^^xsd:string) AnnotationAssertion( "ICD-O:M9831/3"^^xsd:string) AnnotationAssertion( "ICD-O:M9837/3"^^xsd:string) AnnotationAssertion( "MONDO:0044917"^^xsd:string) AnnotationAssertion( "NCI:C5640"^^xsd:string) AnnotationAssertion( "NCI:C7953"^^xsd:string) AnnotationAssertion( "T-cell childhood acute lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "childhood precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080145"^^xsd:string) AnnotationAssertion(rdfs:label "childhood T-cell acute lymphoblastic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood B-cell acute lymphoblastic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140"^^xsd:string) "A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001946"^^xsd:string) AnnotationAssertion( "ICD-O:M9836/3"^^xsd:string) AnnotationAssertion( "MONDO:0000872"^^xsd:string) AnnotationAssertion( "NCI:C9140"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080146"^^xsd:string) AnnotationAssertion(rdfs:label "childhood B-cell acute lymphoblastic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoblastic lymphoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055"^^xsd:string) "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3329"^^xsd:string) AnnotationAssertion( "NCI:C9360"^^xsd:string) AnnotationAssertion( "RDO:9002205"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080147"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoblastic lymphoma"^^xsd:string) SubClassOf( ) # Class: (T-cell childhood lymphoblastic lymphoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string) "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001948"^^xsd:string) AnnotationAssertion( "ICD-O:M9729/3"^^xsd:string) AnnotationAssertion( "NCI:C7210"^^xsd:string) AnnotationAssertion( "childhood T lymphoblastic lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080148"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell childhood lymphoblastic lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult acute monocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string) "An acute monocytic leukemia occurring in adults. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001933"^^xsd:string) AnnotationAssertion( "NCI:C8263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080149"^^xsd:string) AnnotationAssertion(rdfs:label "adult acute monocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (adrenocorticotropic hormone deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27041067"^^xsd:string) "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201400"^^xsd:string) AnnotationAssertion( "EFO:1001979"^^xsd:string) AnnotationAssertion( "MESH:C535668"^^xsd:string) AnnotationAssertion( "MESH:C562707"^^xsd:string) AnnotationAssertion( "ACTH deficiency"^^xsd:string) AnnotationAssertion( "IAD"^^xsd:string) AnnotationAssertion( "isolated ACTH deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080150"^^xsd:string) AnnotationAssertion(rdfs:label "adrenocorticotropic hormone deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (medium chain acyl-CoA dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency"^^xsd:string) "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201450"^^xsd:string) AnnotationAssertion( "GARD:540"^^xsd:string) AnnotationAssertion( "MESH:C536038"^^xsd:string) AnnotationAssertion( "NCI:C84538"^^xsd:string) AnnotationAssertion( "ORDO:42"^^xsd:string) AnnotationAssertion( "ACADM Deficiency"^^xsd:string) AnnotationAssertion( "ACADMD"^^xsd:string) AnnotationAssertion( "Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of"^^xsd:string) AnnotationAssertion( "Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "MCAD Deficiency"^^xsd:string) AnnotationAssertion( "MCADH Deficiency"^^xsd:string) AnnotationAssertion( "Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MCAD deficiency, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0080153"^^xsd:string) AnnotationAssertion(rdfs:label "medium chain acyl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf( ) # Class: (short chain acyl-CoA dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/"^^xsd:string) "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201470"^^xsd:string) AnnotationAssertion( "GARD:4822"^^xsd:string) AnnotationAssertion( "MESH:C537596"^^xsd:string) AnnotationAssertion( "NCI:C84539"^^xsd:string) AnnotationAssertion( "ORDO:26792"^^xsd:string) AnnotationAssertion( "ACADSD"^^xsd:string) AnnotationAssertion( "Acads Deficiency"^^xsd:string) AnnotationAssertion( "Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of"^^xsd:string) AnnotationAssertion( "Deficiency of Butyryl-Coa Dehydrogenase"^^xsd:string) AnnotationAssertion( "Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Scad Deficiency"^^xsd:string) AnnotationAssertion( "Scadh Deficiency"^^xsd:string) AnnotationAssertion( "short-chain acyl-Coenzyme A dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080154"^^xsd:string) AnnotationAssertion(rdfs:label "short chain acyl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf( ) # Class: (very long chain acyl-CoA dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency"^^xsd:string) "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:201475"^^xsd:string) AnnotationAssertion( "OMIA:002140"^^xsd:string) AnnotationAssertion( "GARD:5508"^^xsd:string) AnnotationAssertion( "MESH:C536353"^^xsd:string) AnnotationAssertion( "NCI:C98647"^^xsd:string) AnnotationAssertion( "ORDO:26793"^^xsd:string) AnnotationAssertion( "ACADVL"^^xsd:string) AnnotationAssertion( "ACADVLD"^^xsd:string) AnnotationAssertion( "VLCAD deficiency"^^xsd:string) AnnotationAssertion( "VLCAD-C"^^xsd:string) AnnotationAssertion( "VLCAD-H"^^xsd:string) AnnotationAssertion( "deficiency of very long-chain Acyl-CoA dehydrogenase"^^xsd:string) AnnotationAssertion( "very long-chain Acyl Coenzyme A dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "exercise induced metabolic myopathy"^^xsd:string) AnnotationAssertion( "DOID:0080155"^^xsd:string) AnnotationAssertion(rdfs:label "very long chain acyl-CoA dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked adrenal hypoplasia congenita) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1431/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27376611"^^xsd:string) "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300200"^^xsd:string) AnnotationAssertion( "GARD:555"^^xsd:string) AnnotationAssertion( "MESH:C536757"^^xsd:string) AnnotationAssertion( "AHC"^^xsd:string) AnnotationAssertion( "AHC WITH HHG"^^xsd:string) AnnotationAssertion( "AHC with isolated gonadotropin deficiency"^^xsd:string) AnnotationAssertion( "AHCH"^^xsd:string) AnnotationAssertion( "AHX"^^xsd:string) AnnotationAssertion( "X-linked Addison disease"^^xsd:string) AnnotationAssertion( "X-linked congenital adrenal hypoplasia"^^xsd:string) AnnotationAssertion( "adrenal hypoplasia congenita"^^xsd:string) AnnotationAssertion( "congenital adrenal hypoplasia"^^xsd:string) AnnotationAssertion( "congenital adrenal hypoplasia with hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "cytomegalic adrenocortical hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080156"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked adrenal hypoplasia congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (herpes simplex virus keratitis) AnnotationAssertion(Annotation( "http://www.aao.org/eye-health/diseases/herpes-keratitis"^^xsd:string) "A keratitis that has_material_basis_in herpes simplex type infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007308"^^xsd:string) AnnotationAssertion( "MESH:D016849"^^xsd:string) AnnotationAssertion( "Herpes Simplex Keratitis"^^xsd:string) AnnotationAssertion( "Herpetic Keratitides"^^xsd:string) AnnotationAssertion( "Keratitis, Herpetic"^^xsd:string) AnnotationAssertion( "herpes simplex keratitides"^^xsd:string) AnnotationAssertion( "ocular herpes simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HSK"^^xsd:string) AnnotationAssertion( "Herpetic Stromal Keratitis"^^xsd:string) AnnotationAssertion( "DOID:0080158"^^xsd:string) AnnotationAssertion(rdfs:label "herpes simplex virus keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cryptococcal meningitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000642.htm"^^xsd:string) "A fungal meningitis that has_material_basis_in Crypococcus fungal infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007228"^^xsd:string) AnnotationAssertion( "MESH:D016919"^^xsd:string) AnnotationAssertion( "Cerebral Cryptococcosis"^^xsd:string) AnnotationAssertion( "Cryptococcal Meningitides"^^xsd:string) AnnotationAssertion( "Granulomous Cerebral Cryptococcoses"^^xsd:string) AnnotationAssertion( "Granulomous Cerebral Cryptococcosis"^^xsd:string) AnnotationAssertion( "Toruloma"^^xsd:string) AnnotationAssertion( "cerebral cryptococcoses"^^xsd:string) AnnotationAssertion( "torulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080159"^^xsd:string) AnnotationAssertion(rdfs:label "cryptococcal meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cytomegalovirus retinitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000665.htm"^^xsd:string) "A retinitis that has_material_basis_in Cytomegalovirus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001302"^^xsd:string) AnnotationAssertion( "GARD:9531"^^xsd:string) AnnotationAssertion( "MESH:D017726"^^xsd:string) AnnotationAssertion( "CMV retinitis"^^xsd:string) AnnotationAssertion( "cytomegaloviral retinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080160"^^xsd:string) AnnotationAssertion(rdfs:label "cytomegalovirus retinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cutaneous candidiasis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000880.htm"^^xsd:string) "A candidiasis that is characterized by Candida infection located_in the skin. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002179"^^xsd:string) AnnotationAssertion( "cutaneous candidiases"^^xsd:string) AnnotationAssertion( "cutaneous moniliases"^^xsd:string) AnnotationAssertion( "cutaneous moniliasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080161"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lupus nephritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000481.htm"^^xsd:string) "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005761"^^xsd:string) AnnotationAssertion( "GARD:10747"^^xsd:string) AnnotationAssertion( "MESH:D008181"^^xsd:string) AnnotationAssertion( "Lupus Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Lupus Glomerulonephritis"^^xsd:string) AnnotationAssertion( "Lupus Nephritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lupus nephritis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080162"^^xsd:string) AnnotationAssertion(rdfs:label "lupus nephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otulipenia) AnnotationAssertion(Annotation( "http://www.omim.org/entry/617099?search=617099&highlight=617099"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27523608"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27559085"^^xsd:string) Annotation( "https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease"^^xsd:string) "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13198"^^xsd:string) AnnotationAssertion( "MIM:617099"^^xsd:string) AnnotationAssertion( "NCI:C174441"^^xsd:string) AnnotationAssertion( "AIPDS"^^xsd:string) AnnotationAssertion( "ORAS"^^xsd:string) AnnotationAssertion( "OTULIN-RELATED AUTOINFLAMMATORY SYNDROME"^^xsd:string) AnnotationAssertion( "autoinflammation, panniculitis, and dermatosis syndrome"^^xsd:string) AnnotationAssertion( "otulin-autoinflammatory syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080163"^^xsd:string) AnnotationAssertion(rdfs:label "otulipenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19357394"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23489324"^^xsd:string) "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C84270"^^xsd:string) AnnotationAssertion( "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"^^xsd:string) AnnotationAssertion( "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080164"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1"^^xsd:string) SubClassOf( ) # Class: (myeloid and lymphoid neoplasms associated with PDGFRA rearrangement) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null"^^xsd:string) "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C84275"^^xsd:string) AnnotationAssertion( "myeloid and lymphoid neoplasms with PDGFRA rearrangement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080165"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement"^^xsd:string) SubClassOf( ) # Class: (myeloid and lymphoid neoplasms associated with PDGFRB rearrangement) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null"^^xsd:string) "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C84276"^^xsd:string) AnnotationAssertion( "myeloid and lymphoid neoplasms with PDGFRB rearrangement"^^xsd:string) AnnotationAssertion( "myeloid neoplasms associated with PDGFRB rearrangement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080166"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid and lymphoid neoplasms associated with PDGFRB rearrangement"^^xsd:string) SubClassOf( ) # Class: (myeloid and lymphoid neoplasms associated with FGFR1 abnormalities) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null"^^xsd:string) "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C84277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080167"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities"^^xsd:string) SubClassOf( ) # Class: (tricuspid atresia) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/001110.htm"^^xsd:string) "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605067"^^xsd:string) AnnotationAssertion( "GARD:5274"^^xsd:string) AnnotationAssertion( "MESH:D018785"^^xsd:string) AnnotationAssertion( "NCI:C85202"^^xsd:string) AnnotationAssertion( "Absent Right Atrioventricular Connection"^^xsd:string) AnnotationAssertion( "Tricuspid Valve Atresia"^^xsd:string) AnnotationAssertion( "tricuspid atresias"^^xsd:string) AnnotationAssertion( "tricuspid valve atresias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080169"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (normophosphatemic familial tumoral calcinosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21160498"^^xsd:string) "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610455"^^xsd:string) AnnotationAssertion( "familial tumoral calcinosis"^^xsd:string) AnnotationAssertion( "GARD:10878"^^xsd:string) AnnotationAssertion( "MESH:C566473"^^xsd:string) AnnotationAssertion( "NFTC"^^xsd:string) AnnotationAssertion( "tumoral calcinosis with normophosphatemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080170"^^xsd:string) AnnotationAssertion(rdfs:label "normophosphatemic familial tumoral calcinosis"^^xsd:string) SubClassOf( ) # Class: (esophageal atresia/tracheoesophageal fistula) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula"^^xsd:string) "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:189960"^^xsd:string) AnnotationAssertion( "GARD:7792"^^xsd:string) AnnotationAssertion( "MESH:C531835"^^xsd:string) AnnotationAssertion( "Ea-Tef"^^xsd:string) AnnotationAssertion( "esophageal atresia and/or tracheoesophageal fistula"^^xsd:string) AnnotationAssertion( "esophageal atresia with or without tracheoesophageal fistula"^^xsd:string) AnnotationAssertion( "tracheoesophageal fistula with or without esohageal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080171"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal atresia/tracheoesophageal fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thiopurine S-methyltransferase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics"^^xsd:string) "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536512"^^xsd:string) AnnotationAssertion( "MIM:PS610460"^^xsd:string) AnnotationAssertion( "6 alpha mercaptopurine sensitivity"^^xsd:string) AnnotationAssertion( "TPMT deficiency"^^xsd:string) AnnotationAssertion( "TPMTD"^^xsd:string) AnnotationAssertion( "poor metabolism of thiopurines"^^xsd:string) AnnotationAssertion( "poor metabolism of thiopurines-1"^^xsd:string) AnnotationAssertion( "thiopurine methyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "azathioprine intolerance"^^xsd:string) AnnotationAssertion( "DOID:0080172"^^xsd:string) AnnotationAssertion(rdfs:label "thiopurine S-methyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder exstrophy-epispadias-cloacal exstrophy complex) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22055685"^^xsd:string) "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258040"^^xsd:string) AnnotationAssertion( "MESH:C564009"^^xsd:string) AnnotationAssertion( "ORDO:322"^^xsd:string) AnnotationAssertion( "Bladder Exstrophy and Epispadias Complex"^^xsd:string) AnnotationAssertion( "exstrophy-epispadias complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080173"^^xsd:string) AnnotationAssertion(rdfs:label "bladder exstrophy-epispadias-cloacal exstrophy complex"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder exstrophy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bladder_exstrophy"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21929991"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22055685"^^xsd:string) "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600057"^^xsd:string) AnnotationAssertion( "ICD10CM:Q64.10"^^xsd:string) AnnotationAssertion( "ICD9CM:753.5"^^xsd:string) AnnotationAssertion( "MESH:D001746"^^xsd:string) AnnotationAssertion( "MONDO:0010805"^^xsd:string) AnnotationAssertion( "ORDO:93930"^^xsd:string) AnnotationAssertion( "bladder exstrophies"^^xsd:string) AnnotationAssertion( "bladder extrophies"^^xsd:string) AnnotationAssertion( "bladder extrophy"^^xsd:string) AnnotationAssertion( "exstrophy of bladder"^^xsd:string) AnnotationAssertion( "exstrophy of the bladder"^^xsd:string) AnnotationAssertion( "urinary bladder exstrophies"^^xsd:string) AnnotationAssertion( "urinary bladder exstrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080174"^^xsd:string) AnnotationAssertion(rdfs:label "bladder exstrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cloacal exstrophy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/"^^xsd:string) "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:93929"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080175"^^xsd:string) AnnotationAssertion(rdfs:label "cloacal exstrophy"^^xsd:string) SubClassOf( ) # Class: (meningococcal meningitis) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs141/en/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Meningococcal_disease"^^xsd:string) Annotation( "https://www.cdc.gov/meningococcal/about/symptoms.html"^^xsd:string) "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001040"^^xsd:string) AnnotationAssertion( "ICD10CM:A39.0"^^xsd:string) AnnotationAssertion( "ICD9CM:036.0"^^xsd:string) AnnotationAssertion( "MESH:D008585"^^xsd:string) AnnotationAssertion( "meningococcic meningitis"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup C"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup A"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup B"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup W 135"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup W135"^^xsd:string) AnnotationAssertion( "meningococcal meningitis, serogroup Y"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080176"^^xsd:string) AnnotationAssertion(rdfs:label "meningococcal meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic veno-occlusive disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease"^^xsd:string) "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13004"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.5"^^xsd:string) AnnotationAssertion( "MESH:D006504"^^xsd:string) AnnotationAssertion( "hepatic veno-occlusive diseases"^^xsd:string) AnnotationAssertion( "sinusoidal obstruction syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080177"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic veno-occlusive disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucositis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mucositis"^^xsd:string) "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001880"^^xsd:string) AnnotationAssertion( "EFO:1001898"^^xsd:string) AnnotationAssertion( "MESH:D052016"^^xsd:string) AnnotationAssertion( "mucositides"^^xsd:string) AnnotationAssertion( "CIGT"^^xsd:string) AnnotationAssertion( "CIM"^^xsd:string) AnnotationAssertion( "chemotherapy-induced gut toxicity"^^xsd:string) AnnotationAssertion( "chemotherapy-induced mucositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080178"^^xsd:string) AnnotationAssertion(rdfs:label "mucositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (haemophilus meningitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Haemophilus_meningitis"^^xsd:string) "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000955"^^xsd:string) AnnotationAssertion( "ICD10CM:G00.0"^^xsd:string) AnnotationAssertion( "ICD9CM:320.0"^^xsd:string) AnnotationAssertion( "MESH:D008583"^^xsd:string) AnnotationAssertion( "Haemophilus Meningitides"^^xsd:string) AnnotationAssertion( "Haemophilus influenzae Meningitis Type B"^^xsd:string) AnnotationAssertion( "Haemophilus influenzae meningitis"^^xsd:string) AnnotationAssertion( "Haemophilus parainfluenzae Meningitides"^^xsd:string) AnnotationAssertion( "Haemophilus parainfluenzae Meningitis"^^xsd:string) AnnotationAssertion( "Hemophilus Meningitides"^^xsd:string) AnnotationAssertion( "Hemophilus Meningitis"^^xsd:string) AnnotationAssertion( "Hemophilus influenzae Meningitis Type B"^^xsd:string) AnnotationAssertion( "HiB Meninigitis"^^xsd:string) AnnotationAssertion( "Meningitis, Haemophilus influenzae Type F"^^xsd:string) AnnotationAssertion( "Meningitis, Hemophilus influenzae Type F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080179"^^xsd:string) AnnotationAssertion(rdfs:label "haemophilus meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zika virus congenital syndrome) AnnotationAssertion(Annotation( "http://www.who.int/bulletin/volumes/94/6/16-176990/en/"^^xsd:string) Annotation( "https://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/"^^xsd:string) "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0000890"^^xsd:string) AnnotationAssertion( "ZIKV congenital infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080180"^^xsd:string) AnnotationAssertion(rdfs:label "Zika virus congenital syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PHARC syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24697911"^^xsd:string) "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612674"^^xsd:string) AnnotationAssertion( "MESH:C567203"^^xsd:string) AnnotationAssertion( "ORDO:171848"^^xsd:string) AnnotationAssertion( "ABHD12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PHARC"^^xsd:string) AnnotationAssertion( "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC)"^^xsd:string) AnnotationAssertion( "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"^^xsd:string) AnnotationAssertion( "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080181"^^xsd:string) AnnotationAssertion(rdfs:label "PHARC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mixed fibrolamellar hepatocellular carcinoma) AnnotationAssertion(Annotation( "https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/"^^xsd:string) "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080182"^^xsd:string) AnnotationAssertion(rdfs:label "mixed fibrolamellar hepatocellular carcinoma"^^xsd:string) SubClassOf( ) # Class: (medullary colon carcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/colontumormedullary.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10414504"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20811712"^^xsd:string) "A colon carcinoma that is characterized by a solid growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002020"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080183"^^xsd:string) AnnotationAssertion(rdfs:label "medullary colon carcinoma"^^xsd:string) SubClassOf( ) # Class: (mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20073606"^^xsd:string) "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "indeterminate bronchioloalveolar carcinoma"^^xsd:string) AnnotationAssertion( "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080184"^^xsd:string) AnnotationAssertion(rdfs:label "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (mucinous bronchioloalveolar adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string) "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080185"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous bronchioloalveolar adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonmucinous bronchioloalveolar adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17616987"^^xsd:string) "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080186"^^xsd:string) AnnotationAssertion(rdfs:label "nonmucinous bronchioloalveolar adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (chronic neutrophilic leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia"^^xsd:string) "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000179"^^xsd:string) AnnotationAssertion( "GARD:10585"^^xsd:string) AnnotationAssertion( "ICDO:9963/3"^^xsd:string) AnnotationAssertion( "MESH:D015467"^^xsd:string) AnnotationAssertion( "NCI:C3179"^^xsd:string) AnnotationAssertion( "chronic neutrophilic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080187"^^xsd:string) AnnotationAssertion(rdfs:label "chronic neutrophilic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic myelomonocytic leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30367269"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31093889"^^xsd:string) "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001779"^^xsd:string) AnnotationAssertion( "GARD:8225"^^xsd:string) AnnotationAssertion( "ICDO:9945/3"^^xsd:string) AnnotationAssertion( "MESH:D015477"^^xsd:string) AnnotationAssertion( "NCI:C3178"^^xsd:string) AnnotationAssertion( "chronic myelomonocytic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080188"^^xsd:string) AnnotationAssertion(rdfs:label "chronic myelomonocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant hemangioma) AnnotationAssertion(Annotation( "http://www.rare-cancer.org/info/hemangioendothelioma.php"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hemangioma"^^xsd:string) "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080189"^^xsd:string) AnnotationAssertion(rdfs:label "malignant hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant epithelioid hemangioendothelioma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800"^^xsd:string) "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080190"^^xsd:string) AnnotationAssertion(rdfs:label "malignant epithelioid hemangioendothelioma"^^xsd:string) SubClassOf( ) # Class: (PTEN hamartoma tumor syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1488/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22628360"^^xsd:string) "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566636"^^xsd:string) AnnotationAssertion( "OMIA:001515"^^xsd:string) AnnotationAssertion( "GARD:12800"^^xsd:string) AnnotationAssertion( "MESH:D006223"^^xsd:string) AnnotationAssertion( "CS"^^xsd:string) AnnotationAssertion( "Multiple Hamartoma Syndrome"^^xsd:string) AnnotationAssertion( "PTEN hamartoma tumor syndrome with granular cell tumor"^^xsd:string) AnnotationAssertion( "multiple hamartoma syndromes"^^xsd:string) AnnotationAssertion( "Colorectal hamartomatous polyposis and ganglioneuromatosis"^^xsd:string) AnnotationAssertion( "MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM"^^xsd:string) AnnotationAssertion( "PROTEUS-like syndrome"^^xsd:string) AnnotationAssertion( "cerebellar granule cell hypertrophy and megalencephaly"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder VI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HAMARTOMATOUS POLYPOSIS"^^xsd:string) AnnotationAssertion( "DOID:0080191"^^xsd:string) AnnotationAssertion(rdfs:label "PTEN hamartoma tumor syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (relapsed/refractory diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22160081"^^xsd:string) "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080192"^^xsd:string) AnnotationAssertion(rdfs:label "relapsed/refractory diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (superior semicircular canal dehiscence) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10651428/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28503164"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28790965"^^xsd:string) "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:420402"^^xsd:string) AnnotationAssertion( "RDO:9004683"^^xsd:string) AnnotationAssertion( "canal dehiscence syndrome"^^xsd:string) AnnotationAssertion( "minor's syndrome"^^xsd:string) AnnotationAssertion( "superior canal dehiscence"^^xsd:string) AnnotationAssertion( "superior canal syndrome"^^xsd:string) AnnotationAssertion( "superior semicircular canal dehiscence syndrome"^^xsd:string) AnnotationAssertion( "third mobile window syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080193"^^xsd:string) AnnotationAssertion(rdfs:label "superior semicircular canal dehiscence"^^xsd:string) SubClassOf( ) # Class: (Carey-Fineman-Ziter syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28681861"^^xsd:string) Annotation( "https://www.omim.org/entry/254940?search=254940&highlight=254940"^^xsd:string) "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536102"^^xsd:string) AnnotationAssertion( "MIM:PS254940"^^xsd:string) AnnotationAssertion( "Congenital nonprogressive myopathy with Moebius and Robin sequence"^^xsd:string) AnnotationAssertion( "Moebius sequence, Robin complex, and hypotonia"^^xsd:string) AnnotationAssertion( "Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences"^^xsd:string) AnnotationAssertion( "Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080194"^^xsd:string) AnnotationAssertion(rdfs:label "Carey-Fineman-Ziter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marinesco-Sjogren syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms"^^xsd:string) Annotation( "https://www.omim.org/entry/248800?search=248800&highlight=248800"^^xsd:string) "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8341"^^xsd:string) AnnotationAssertion( "MESH:C535913"^^xsd:string) AnnotationAssertion( "ORDO:559"^^xsd:string) AnnotationAssertion( "Garland-Moorhouse syndrome"^^xsd:string) AnnotationAssertion( "Marinesco Sjogren Garland syndrome"^^xsd:string) AnnotationAssertion( "Marinesco Sjogren syndrome hypergonadotrophic hypogonadism"^^xsd:string) AnnotationAssertion( "Marinesco Sjogren syndrome myopathy"^^xsd:string) AnnotationAssertion( "Marinesco Sjögren syndrome"^^xsd:string) AnnotationAssertion( "Marinesco-Garland syndrome"^^xsd:string) AnnotationAssertion( "Marinesco-Sjogren-like syndrome (MSLS)"^^xsd:string) AnnotationAssertion( "hereditary oligophrenic cerebello-lental degeneration"^^xsd:string) AnnotationAssertion( "oligophrenic cerebellolenticular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080195"^^xsd:string) AnnotationAssertion(rdfs:label "Marinesco-Sjogren syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mandibulofacial dysostosis, Guion-Almeida type) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK214367/"^^xsd:string) "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610536"^^xsd:string) AnnotationAssertion( "GARD:10056"^^xsd:string) AnnotationAssertion( "MESH:C537405"^^xsd:string) AnnotationAssertion( "ORDO:79113"^^xsd:string) AnnotationAssertion( "EFTUD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MFDGA"^^xsd:string) AnnotationAssertion( "MFDM"^^xsd:string) AnnotationAssertion( "MFDM syndrome"^^xsd:string) AnnotationAssertion( "growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate"^^xsd:string) AnnotationAssertion( "mandibulofacial dysostosis-microcephaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "mandibulofacial dysostosis with microcephaly"^^xsd:string) AnnotationAssertion( "DOID:0080196"^^xsd:string) AnnotationAssertion(rdfs:label "mandibulofacial dysostosis, Guion-Almeida type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital muscular dystrophy with cataracts and intellectual disability) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28190459"^^xsd:string) "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001716"^^xsd:string) AnnotationAssertion( "EFO:0009149"^^xsd:string) AnnotationAssertion( "MIM:617404"^^xsd:string) AnnotationAssertion( "MDCCAID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080197"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy with cataracts and intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infantile histiocytoid cardiomyopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10960495"^^xsd:string) "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500000"^^xsd:string) AnnotationAssertion( "GARD:9511"^^xsd:string) AnnotationAssertion( "MESH:C535584"^^xsd:string) AnnotationAssertion( "foamy myocardial transformation of infancy"^^xsd:string) AnnotationAssertion( "focal lipid cardiomyopathy"^^xsd:string) AnnotationAssertion( "infantile xanthomatous cardiomyopathy"^^xsd:string) AnnotationAssertion( "oncocytic cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080198"^^xsd:string) AnnotationAssertion(rdfs:label "infantile histiocytoid cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colorectal carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978"^^xsd:string) "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000755"^^xsd:string) AnnotationAssertion( "EFO:1001951"^^xsd:string) AnnotationAssertion( "NCI:C2955"^^xsd:string) AnnotationAssertion( "colorectal carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080199"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bilateral renal aplasia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/"^^xsd:string) "A renal agenesis that is characterized by the absence of both kidneys at birth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001951"^^xsd:string) AnnotationAssertion( "ORDO:1848"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080200"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral renal aplasia"^^xsd:string) SubClassOf( ) # Class: (Peters plus syndrome) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Peters-plus_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/peters-plus-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1464/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25544610"^^xsd:string) "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261540"^^xsd:string) AnnotationAssertion( "GARD:8422"^^xsd:string) AnnotationAssertion( "MESH:C537617"^^xsd:string) AnnotationAssertion( "NCI:C123436"^^xsd:string) AnnotationAssertion( "Krause-Kivlin syndrome"^^xsd:string) AnnotationAssertion( "Krause-Van Schooneveld-Kivlin syndrome"^^xsd:string) AnnotationAssertion( "Peters anomaly with short limb dwarfism"^^xsd:string) AnnotationAssertion( "Peters anomaly-short limb dwarfism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080201"^^xsd:string) AnnotationAssertion(rdfs:label "Peters plus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://codes.iarc.fr/code/2592"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=D003528"^^xsd:string) "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000231"^^xsd:string) AnnotationAssertion( "GARD:5743"^^xsd:string) AnnotationAssertion( "ICDO:8200/3"^^xsd:string) AnnotationAssertion( "MESH:D003528"^^xsd:string) AnnotationAssertion( "adenocystic carcinoma"^^xsd:string) AnnotationAssertion( "adenocystic carcinomas"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinomas"^^xsd:string) AnnotationAssertion( "cylindroma"^^xsd:string) AnnotationAssertion( "cylindromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080202"^^xsd:string) AnnotationAssertion(rdfs:label "adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal hypoplasia) AnnotationAssertion(Annotation( "https://www.nature.com/articles/pr2010138"^^xsd:string) "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009471"^^xsd:string) AnnotationAssertion( "ORDO:93101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080204"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CAKUT) AnnotationAssertion(Annotation( "https://www.jci.org/articles/view/95300"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25313840"^^xsd:string) "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566906"^^xsd:string) AnnotationAssertion( "MIM:PS610805"^^xsd:string) AnnotationAssertion( "ORDO:93545"^^xsd:string) AnnotationAssertion( "NON-SYNDROMIC RENAL OR URINARY TRACT MALFORMATION"^^xsd:string) AnnotationAssertion( "congenital anomalies of kidney and urinary tract"^^xsd:string) AnnotationAssertion( "congenital anomalies of the kidney and urinary tract"^^xsd:string) AnnotationAssertion( "renal or urinary tract malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080205"^^xsd:string) AnnotationAssertion(rdfs:label "CAKUT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CAKUT1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23862974"^^xsd:string) "A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610805"^^xsd:string) AnnotationAssertion( "DSTYK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563661"^^xsd:string) AnnotationAssertion( "RHDNS1"^^xsd:string) AnnotationAssertion( "congenital anomalies of kidney and urinary tract 1"^^xsd:string) AnnotationAssertion( "congenital anomalies of the kidney and urinary tract 1"^^xsd:string) AnnotationAssertion( "nonsyndromic renal hypodysplasia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0080206"^^xsd:string) AnnotationAssertion(rdfs:label "CAKUT1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CAKUT2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26235987"^^xsd:string) "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143400"^^xsd:string) AnnotationAssertion( "MESH:C537373"^^xsd:string) AnnotationAssertion( "Congenital anomalies of the kidney and urinary tract 2"^^xsd:string) AnnotationAssertion( "Hydronephrosis Due To Pujo"^^xsd:string) AnnotationAssertion( "MCRD"^^xsd:string) AnnotationAssertion( "Multicystic Renal Dysplasia, Bilateral"^^xsd:string) AnnotationAssertion( "PUJO"^^xsd:string) AnnotationAssertion( "Pelvi-ureteric junction obstruction"^^xsd:string) AnnotationAssertion( "Pelviureteric Junction Obstruction"^^xsd:string) AnnotationAssertion( "UPJO"^^xsd:string) AnnotationAssertion( "congenital anomalies of kidney and urinary tract 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ureteropelvic junction obstruction"^^xsd:string) AnnotationAssertion( "DOID:0080207"^^xsd:string) AnnotationAssertion(rdfs:label "CAKUT2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (metabolic dysfunction-associated steatotic liver disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37364816/"^^xsd:string) "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are: (1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents. (2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only). (3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment. (4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment. (5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613282"^^xsd:string) AnnotationAssertion( "MIM:613387"^^xsd:string) AnnotationAssertion( "EFO:0003095"^^xsd:string) AnnotationAssertion( "MESH:D065626"^^xsd:string) AnnotationAssertion( "NCI:C84444"^^xsd:string) AnnotationAssertion( "MAFLD"^^xsd:string) AnnotationAssertion( "MASLD"^^xsd:string) AnnotationAssertion( "NAFLD"^^xsd:string) AnnotationAssertion( "Nonalcoholic Fatty Liver"^^xsd:string) AnnotationAssertion( "metabolic dysfunction-associated fatty liver disease"^^xsd:string) AnnotationAssertion( "metabolic dysfunction-related steatotic liver disease"^^xsd:string) AnnotationAssertion( "metabolic-associated fatty liver disease"^^xsd:string) AnnotationAssertion( "non-alcoholic fatty liver disease"^^xsd:string) AnnotationAssertion( "nonalcoholic fatty liver disease"^^xsd:string) AnnotationAssertion( "NAFLD1"^^xsd:string) AnnotationAssertion( "NAFLD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "alcoholic liver disease, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "nonalcoholic fatty liver disease, susceptibility to"^^xsd:string) AnnotationAssertion( "nonalcoholic fatty liver disease, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:0080208"^^xsd:string) AnnotationAssertion(rdfs:label "metabolic dysfunction-associated steatotic liver disease"^^xsd:string) SubClassOf( ) # Class: (sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23553769"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25193871"^^xsd:string) "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616084"^^xsd:string) AnnotationAssertion( "SIFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080209"^^xsd:string) AnnotationAssertion(rdfs:label "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary mediastinal B-cell lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28318892"^^xsd:string) "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C85.2"^^xsd:string) AnnotationAssertion( "MONDO:0020323"^^xsd:string) AnnotationAssertion( "NCI:C9280"^^xsd:string) AnnotationAssertion( "ORDO:98838"^^xsd:string) AnnotationAssertion( "large cell lymphoma of the mediastinum"^^xsd:string) AnnotationAssertion( "mediastinal diffuse large-cell lymphoma with sclerosis"^^xsd:string) AnnotationAssertion( "primary mediastinal clear cell lymphoma of B-cell type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080210"^^xsd:string) AnnotationAssertion(rdfs:label "primary mediastinal B-cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodal marginal zone lymphoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26989202"^^xsd:string) "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C8863"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080211"^^xsd:string) AnnotationAssertion(rdfs:label "nodal marginal zone lymphoma"^^xsd:string) SubClassOf( ) # Class: (polycystic kidney disease 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/173900"^^xsd:string) "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)"^^xsd:string) AnnotationAssertion( "abnormality of the intrahepatic bile duct"^^xsd:string) AnnotationAssertion( "MIM:263200"^^xsd:string) AnnotationAssertion( "ARPKD"^^xsd:string) AnnotationAssertion( "PKD3"^^xsd:string) AnnotationAssertion( "PKD4"^^xsd:string) AnnotationAssertion( "PKHD1"^^xsd:string) AnnotationAssertion( "PKHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1"^^xsd:string) AnnotationAssertion( "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE"^^xsd:string) AnnotationAssertion( "Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)"^^xsd:string) AnnotationAssertion( "infantile polycystic kidney disease, type 1"^^xsd:string) AnnotationAssertion( "infantile polycystic kidney disease, type I"^^xsd:string) AnnotationAssertion( "polycystic kidney disease 4 with or without polycystic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080212"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 4"^^xsd:string) SubClassOf( ) # Class: (punctate palmoplantar keratoderma type II) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8651714/"^^xsd:string) "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4439"^^xsd:string) AnnotationAssertion( "MIM:175860"^^xsd:string) AnnotationAssertion( "PPKP2"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma, punctate type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080213"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (punctate palmoplantar keratoderma type I) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23000146/"^^xsd:string) "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148600"^^xsd:string) AnnotationAssertion( "MIM:614936"^^xsd:string) AnnotationAssertion( "MESH:C536161"^^xsd:string) AnnotationAssertion( "Buschke Fischer Brauer syndrome"^^xsd:string) AnnotationAssertion( "KPPP1"^^xsd:string) AnnotationAssertion( "PPKP1"^^xsd:string) AnnotationAssertion( "PPKP1A"^^xsd:string) AnnotationAssertion( "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris papulosa"^^xsd:string) AnnotationAssertion( "punctate palmoplantar keratoderma type 1"^^xsd:string) AnnotationAssertion( "punctate palmoplantar keratoderma type 1A"^^xsd:string) AnnotationAssertion( "punctate palmoplantar keratoderma type 1B"^^xsd:string) AnnotationAssertion( "punctate palmoplantar keratoderma type IA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080214"^^xsd:string) AnnotationAssertion(rdfs:label "punctate palmoplantar keratoderma type I"^^xsd:string) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15215304"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21633362"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300607"^^xsd:string) AnnotationAssertion( "MESH:C564474"^^xsd:string) AnnotationAssertion( "DEE8"^^xsd:string) AnnotationAssertion( "EIEE8"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 8"^^xsd:string) AnnotationAssertion( "hyperekplexia and epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080215"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (duodenal atresia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Duodenal_atresia"^^xsd:string) "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223400"^^xsd:string) AnnotationAssertion( "GARD:54"^^xsd:string) AnnotationAssertion( "MESH:C535720"^^xsd:string) AnnotationAssertion( "duodenal stenosis"^^xsd:string) AnnotationAssertion( "familial duodenal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080216"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lysosomal acid lipase deficiency) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK395569/"^^xsd:string) "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12097"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.5"^^xsd:string) AnnotationAssertion( "MIM:PS278000"^^xsd:string) AnnotationAssertion( "ORDO:275761"^^xsd:string) AnnotationAssertion( "CESD"^^xsd:string) AnnotationAssertion( "LAL deficiency"^^xsd:string) AnnotationAssertion( "LAL-D"^^xsd:string) AnnotationAssertion( "LIPA deficiency"^^xsd:string) AnnotationAssertion( "acid cholesteryl ester hydrolase deficiency, type 2"^^xsd:string) AnnotationAssertion( "acid lipase disease"^^xsd:string) AnnotationAssertion( "cholesterol ester hydrolase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080217"^^xsd:string) AnnotationAssertion(rdfs:label "lysosomal acid lipase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary spontaneous pneumothorax) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax"^^xsd:string) "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4997"^^xsd:string) AnnotationAssertion( "MIM:173600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080218"^^xsd:string) AnnotationAssertion(rdfs:label "primary spontaneous pneumothorax"^^xsd:string) SubClassOf( ) # Class: (dystransthyretinemic hyperthyroxinemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1979335/"^^xsd:string) "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145680"^^xsd:string) AnnotationAssertion( "MESH:C567719"^^xsd:string) AnnotationAssertion( "DTTRH"^^xsd:string) AnnotationAssertion( "dysprealbuminemic hyperthyroxinemia"^^xsd:string) AnnotationAssertion( "dystransthyretinemic euthyroidal hyperthyroxinemia"^^xsd:string) AnnotationAssertion( "euthryroidal hyperthyroxinemia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080219"^^xsd:string) AnnotationAssertion(rdfs:label "dystransthyretinemic hyperthyroxinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (pseudohypoparathyroidism type IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6301273"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6325502"^^xsd:string) "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10680"^^xsd:string) AnnotationAssertion( "MIM:603233"^^xsd:string) AnnotationAssertion( "ORDO:94089"^^xsd:string) AnnotationAssertion( "PHP IB"^^xsd:string) AnnotationAssertion( "PHP1B"^^xsd:string) AnnotationAssertion( "pseudohypoparathyroidism type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080222"^^xsd:string) AnnotationAssertion(rdfs:label "pseudohypoparathyroidism type IB"^^xsd:string) SubClassOf( ) # Class: (epidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7544663"^^xsd:string) "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2826"^^xsd:string) AnnotationAssertion( "MESH:D053546"^^xsd:string) AnnotationAssertion( "MIM:PS144200"^^xsd:string) AnnotationAssertion( "MONDO:0968949"^^xsd:string) AnnotationAssertion( "NCI:C84693"^^xsd:string) AnnotationAssertion( "ORDO:2199"^^xsd:string) AnnotationAssertion( "EPPK"^^xsd:string) AnnotationAssertion( "EPPK (epidermolytic palmoplantar heratoderma)"^^xsd:string) AnnotationAssertion( "Greither Keratosis"^^xsd:string) AnnotationAssertion( "Keratosis of Greither"^^xsd:string) AnnotationAssertion( "PPKE"^^xsd:string) AnnotationAssertion( "epidermolytic Thost-Unna disease"^^xsd:string) AnnotationAssertion( "epidermolytic palmoplantar keratodermas"^^xsd:string) AnnotationAssertion( "keratosis palmaris et plantaris familiaris"^^xsd:string) AnnotationAssertion( "localized epidermolytic hyperkeratoses"^^xsd:string) AnnotationAssertion( "localized epidermolytic hyperkeratosis"^^xsd:string) AnnotationAssertion( "tylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080223"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant dystrophic epidermolysis bullosa) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes"^^xsd:string) "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131750"^^xsd:string) AnnotationAssertion( "GARD:2139"^^xsd:string) AnnotationAssertion( "MESH:C535956"^^xsd:string) AnnotationAssertion( "Cockayne Touraine disease"^^xsd:string) AnnotationAssertion( "DDEB"^^xsd:string) AnnotationAssertion( "EBDCT"^^xsd:string) AnnotationAssertion( "albopapuloid dominant dystrophic EB"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, AD"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, Cockayne Touraine type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, Pasini type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, autosomal dominant"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, dominant"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa, Cockayne Touraine type"^^xsd:string) AnnotationAssertion( "ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA"^^xsd:string) AnnotationAssertion( "EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE"^^xsd:string) AnnotationAssertion( "EBDSC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080224"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant dystrophic epidermolysis bullosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28469040/"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "ANXA11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617839"^^xsd:string) AnnotationAssertion( "NCI:C178411"^^xsd:string) AnnotationAssertion( "ALS23"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080225"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 23"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 56) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26822784"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617854"^^xsd:string) AnnotationAssertion( "CLTC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRD56"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080226"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 56"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 55) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617831"^^xsd:string) AnnotationAssertion( "MRD55"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder 55 with seizures"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 55"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 55 with seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080227"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 55"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 53) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29100089/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617798"^^xsd:string) AnnotationAssertion( "EFO:0009165"^^xsd:string) AnnotationAssertion( "MRD53"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080228"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 53"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 54) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29100089/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009164"^^xsd:string) AnnotationAssertion( "MIM:617799"^^xsd:string) AnnotationAssertion( "CAMK2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRD54"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080230"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 54"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 52) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23033978/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009152"^^xsd:string) AnnotationAssertion( "MIM:617796"^^xsd:string) AnnotationAssertion( "ASH1L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ASH1L-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MRD52"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080231"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 52"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 51) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28191889/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617788"^^xsd:string) AnnotationAssertion( "MRD51"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080232"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 51"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28191889/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "NAA15-related syndrome"^^xsd:string) AnnotationAssertion( "MIM:617787"^^xsd:string) AnnotationAssertion( "MRD50"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080233"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 50"^^xsd:string) SubClassOf( ) # Class: (Clark-Baraitser syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27848077/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617752"^^xsd:string) AnnotationAssertion( "GARD:13584"^^xsd:string) AnnotationAssertion( "MESH:C536208"^^xsd:string) AnnotationAssertion( "Baraitser Syndrome"^^xsd:string) AnnotationAssertion( "CLABARS"^^xsd:string) AnnotationAssertion( "MRD49"^^xsd:string) AnnotationAssertion( "TRIP12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant intellectual disability 49"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080234"^^xsd:string) AnnotationAssertion(rdfs:label "Clark-Baraitser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 48) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28886345/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009156"^^xsd:string) AnnotationAssertion( "MIM:617751"^^xsd:string) AnnotationAssertion( "MRD48"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080235"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 48"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28288114/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617600"^^xsd:string) AnnotationAssertion( "CIC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRD45"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080236"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 45"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28669405/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617601"^^xsd:string) AnnotationAssertion( "KCNQ5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRD46"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080237"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 46"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant intellectual developmental disorder 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28119487/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "STAG1-related disorder"^^xsd:string) AnnotationAssertion( "STAG1-related disorders"^^xsd:string) AnnotationAssertion( "EFO:0009078"^^xsd:string) AnnotationAssertion( "MIM:617635"^^xsd:string) AnnotationAssertion( "MRD47"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080238"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant intellectual developmental disorder 47"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 61) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27612186"^^xsd:string) Annotation( "https://www.omim.org/entry/617773"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617773"^^xsd:string) AnnotationAssertion( "Alwadei syndrome"^^xsd:string) AnnotationAssertion( "MRT61"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080239"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 61"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 106) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28302723/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28584052/"^^xsd:string) "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300997"^^xsd:string) AnnotationAssertion( "MRX106"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 106"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 106"^^xsd:string) AnnotationAssertion( "XLID106"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080240"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 106"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 35) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26290468/"^^xsd:string) "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300998"^^xsd:string) AnnotationAssertion( "MONDO:0030908"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED, SYNDROMIC, 35"^^xsd:string) AnnotationAssertion( "MRXS35"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 35"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual disability 35"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080241"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked mental retardation Hough type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28098945/"^^xsd:string) "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301008"^^xsd:string) AnnotationAssertion( "Houge-type X-linked syndromic mental retardation"^^xsd:string) AnnotationAssertion( "MRXSHG"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, X-linked, syndromic, Houge type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080242"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked mental retardation Hough type"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta type 3B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27412008/"^^xsd:string) "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617607"^^xsd:string) AnnotationAssertion( "AI3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080243"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 3B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Galloway-Mowat syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301006"^^xsd:string) AnnotationAssertion( "GAMOS2"^^xsd:string) AnnotationAssertion( "Galloway-Mowat syndrome 2, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080244"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Galloway-Mowat syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617729"^^xsd:string) AnnotationAssertion( "GAMOS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080245"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Galloway-Mowat syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617730"^^xsd:string) AnnotationAssertion( "GAMOS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080246"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Galloway-Mowat syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28805828/"^^xsd:string) "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617731"^^xsd:string) AnnotationAssertion( "GAMOS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080247"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome 5"^^xsd:string) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12648223/"^^xsd:string) "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617524"^^xsd:string) AnnotationAssertion( "EKVP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080248"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25398053/"^^xsd:string) "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617525"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080249"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28575652/"^^xsd:string) "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617526"^^xsd:string) AnnotationAssertion( "EKVP4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080250"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27965375/"^^xsd:string) "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-23T10:17:39Z"^^xsd:string) AnnotationAssertion( "MIM:617756"^^xsd:string) AnnotationAssertion( "EKVP5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080251"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic ataxia 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28575651/"^^xsd:string) "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617560"^^xsd:string) AnnotationAssertion( "MONDO:0033043"^^xsd:string) AnnotationAssertion( "ORDO:527497"^^xsd:string) AnnotationAssertion( "SPAX8"^^xsd:string) AnnotationAssertion( "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080252"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ataxia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meckel syndrome 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26123494/"^^xsd:string) "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617562"^^xsd:string) AnnotationAssertion( "MKS13"^^xsd:string) AnnotationAssertion( "Meckel syndrome, type 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080253"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel syndrome 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome XVI) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26518474/"^^xsd:string) "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617563"^^xsd:string) AnnotationAssertion( "OFD16"^^xsd:string) AnnotationAssertion( "OFDS XVI"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type XVI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080254"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XVI"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 8) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617564"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617564"^^xsd:string) AnnotationAssertion( "MGORS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080255"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Perrault syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28449065/"^^xsd:string) "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617565"^^xsd:string) AnnotationAssertion( "PRLTS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080256"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault syndrome 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28369735/"^^xsd:string) "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617574"^^xsd:string) AnnotationAssertion( "ARCI13"^^xsd:string) AnnotationAssertion( "SDR9C7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080257"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 13"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital ichthyosis 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28575648/"^^xsd:string) "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617571"^^xsd:string) AnnotationAssertion( "ARCI14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080258"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital ichthyosis 14"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26812546"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008646"^^xsd:string) AnnotationAssertion( "MIM:617584"^^xsd:string) AnnotationAssertion( "SCAR25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080259"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 25"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28002403"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617633"^^xsd:string) AnnotationAssertion( "SCAR26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080260"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 26"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 106) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26282398/"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617637"^^xsd:string) AnnotationAssertion( "DFNB106"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 106"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080261"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 106"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 107) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26881968/"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617639"^^xsd:string) AnnotationAssertion( "DFNB107"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 107"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080262"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 107"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 108) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27162350/"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617654"^^xsd:string) AnnotationAssertion( "DFNB108"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 108"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080263"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 108"^^xsd:string) SubClassOf( ) # Class: (exudative vitreoretinopathy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28575650"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617572"^^xsd:string) AnnotationAssertion( "EVR7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080264"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28165343"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30683667"^^xsd:string) Annotation( "https://www.omim.org/entry/617575"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617575"^^xsd:string) AnnotationAssertion( "NPHS14"^^xsd:string) AnnotationAssertion( "SPLIS"^^xsd:string) AnnotationAssertion( "nephrotic syndrome 14"^^xsd:string) AnnotationAssertion( "sphingosine phosphate lyase insufficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080265"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 37) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25927852/"^^xsd:string) "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617577"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080266"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 37"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 71) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27657680/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617605"^^xsd:string) AnnotationAssertion( "DFNA71"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080267"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 71"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 72) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28013291/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617606"^^xsd:string) AnnotationAssertion( "DFNA72"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080268"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 72"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 73) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29309402/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617663"^^xsd:string) AnnotationAssertion( "DFNA73"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080269"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 73"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28847925/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617772"^^xsd:string) AnnotationAssertion( "DFNA34"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 34 with or without inflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080270"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 34"^^xsd:string) SubClassOf( ) # Class: (nephrotic syndrome type 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27932480"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617609"^^xsd:string) AnnotationAssertion( "NPHS15"^^xsd:string) AnnotationAssertion( "nephrotic syndrome 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080271"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25961457"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617783"^^xsd:string) AnnotationAssertion( "NPHS16"^^xsd:string) AnnotationAssertion( "nephrotic syndrome 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080272"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic kidney disease 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617610"^^xsd:string) "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617610"^^xsd:string) AnnotationAssertion( "PKD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080273"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 5"^^xsd:string) SubClassOf( ) # Class: (multiple mitochondrial dysfunctions syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28356563"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29623423"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31016283"^^xsd:string) Annotation( "https://www.omim.org/entry/617613"^^xsd:string) "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617613"^^xsd:string) AnnotationAssertion( "MMDS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080274"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mitochondrial dysfunctions syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28625504/"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617622"^^xsd:string) AnnotationAssertion( "ARMC9-related Joubert syndrome"^^xsd:string) AnnotationAssertion( "JBTS30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080275"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 30"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26595381/"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080276"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 29"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27208211/"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617761"^^xsd:string) AnnotationAssertion( "JBTS31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080277"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 31"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28965847/"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617757"^^xsd:string) AnnotationAssertion( "JBTS32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080278"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 32"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26167768/"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617767"^^xsd:string) AnnotationAssertion( "JBTS33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080279"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 33"^^xsd:string) SubClassOf( ) # Class: (gingival fibromatosis 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28686854/"^^xsd:string) "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617626"^^xsd:string) AnnotationAssertion( "GGF5"^^xsd:string) AnnotationAssertion( "GINGF5"^^xsd:string) AnnotationAssertion( "HGF5"^^xsd:string) AnnotationAssertion( "hereditary gingival fibromatosis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080280"^^xsd:string) AnnotationAssertion(rdfs:label "gingival fibromatosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28628109/"^^xsd:string) "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617629"^^xsd:string) AnnotationAssertion( "SCZD19"^^xsd:string) AnnotationAssertion( "schizophrenia 19 with or without an affective disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "schizophrenia 19, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080281"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia 19"^^xsd:string) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 56) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28777935"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617665"^^xsd:string) AnnotationAssertion( "DEE56"^^xsd:string) AnnotationAssertion( "EIEE56"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080282"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 56"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 55) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32042915/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28334793"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617599"^^xsd:string) AnnotationAssertion( "DEE55"^^xsd:string) AnnotationAssertion( "EIEE55"^^xsd:string) AnnotationAssertion( "GPIBD14"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 55"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080283"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 55"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 57) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29740868/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32038177/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29069600"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617771"^^xsd:string) AnnotationAssertion( "DEE57"^^xsd:string) AnnotationAssertion( "EIEE57"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080284"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 57"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 58) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "NTRK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617830"^^xsd:string) AnnotationAssertion( "DEE58"^^xsd:string) AnnotationAssertion( "EIEE58"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080285"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 58"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28886343/"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. (DO)"^^xsd:string) AnnotationAssertion( "GRM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617691"^^xsd:string) AnnotationAssertion( "SCA44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080286"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia 44"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29053796/"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617769"^^xsd:string) AnnotationAssertion( "FAT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCA45"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080287"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia 45"^^xsd:string) SubClassOf( ) # Class: (spinocerebellar ataxia 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29053796/"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617770"^^xsd:string) AnnotationAssertion( "SCA46"^^xsd:string) AnnotationAssertion( "autosomal dominant spinocerebellar ataxia 46 with sensory axonal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080288"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia 46"^^xsd:string) SubClassOf( ) # Class: (orofaciodigital syndrome XVII) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23459408/"^^xsd:string) "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T17:20:34Z"^^xsd:string) AnnotationAssertion( "MIM:617926"^^xsd:string) AnnotationAssertion( "OFD17"^^xsd:string) AnnotationAssertion( "OFDS XVII"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome, type XVII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080289"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome XVII"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29514032"^^xsd:string) "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617907"^^xsd:string) AnnotationAssertion( "ECYT5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080290"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 59) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25262651"^^xsd:string) "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617904"^^xsd:string) AnnotationAssertion( "DEE59"^^xsd:string) AnnotationAssertion( "EIEE59"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080291"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 59"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 81) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28973684/"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617871"^^xsd:string) AnnotationAssertion( "RP81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080292"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 81"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 18 with polydactyly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28400947/"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617866"^^xsd:string) AnnotationAssertion( "SRTD18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080293"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 18 with polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate G) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28364294/"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010267"^^xsd:string) AnnotationAssertion( "MIM:617882"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080294"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 19 with or without polydactyly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27666822/"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617895"^^xsd:string) AnnotationAssertion( "SRTD19"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 19 without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080295"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 19 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28931644/"^^xsd:string) "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617899"^^xsd:string) AnnotationAssertion( "HLD14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080296"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coffin-Siris syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28124119/"^^xsd:string) "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617808"^^xsd:string) AnnotationAssertion( "ARID2-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "CSS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080297"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 6"^^xsd:string) SubClassOf( ) # Class: (complete generalized lipodystrophy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/acquired-lipodystrophy/"^^xsd:string) "A lipodystrophy that is characterized by complete loss of adipose tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080298"^^xsd:string) AnnotationAssertion(rdfs:label "complete generalized lipodystrophy"^^xsd:string) SubClassOf( ) # Class: (partial lipodystrophy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/acquired-lipodystrophy/"^^xsd:string) "A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608709"^^xsd:string) AnnotationAssertion( "EFO:0020027"^^xsd:string) AnnotationAssertion( "MESH:C562448"^^xsd:string) AnnotationAssertion( "APLD"^^xsd:string) AnnotationAssertion( "Barraquer-Simons Syndrome"^^xsd:string) AnnotationAssertion( "Lipodystrophy, Cephalothoracic Type"^^xsd:string) AnnotationAssertion( "partial lipodystrophy, acquired"^^xsd:string) AnnotationAssertion( "progressive partial lipodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APLD, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "susceptibility to partial acquired lipodystrophy"^^xsd:string) AnnotationAssertion( "DOID:0080299"^^xsd:string) AnnotationAssertion(rdfs:label "partial lipodystrophy"^^xsd:string) SubClassOf( ) # Class: (acquired generalized lipodystrophy) AnnotationAssertion(Annotation( "http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23287278"^^xsd:string) "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. (DO)"^^xsd:string) AnnotationAssertion( "Lawrence syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080300"^^xsd:string) AnnotationAssertion(rdfs:label "acquired generalized lipodystrophy"^^xsd:string) SubClassOf( ) # Class: (atypical hemolytic-uremic syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29226095"^^xsd:string) "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235400"^^xsd:string) AnnotationAssertion( "MIM:612922"^^xsd:string) AnnotationAssertion( "MIM:612923"^^xsd:string) AnnotationAssertion( "MIM:612924"^^xsd:string) AnnotationAssertion( "MIM:612925"^^xsd:string) AnnotationAssertion( "MIM:612926"^^xsd:string) AnnotationAssertion( "OMIA:000636"^^xsd:string) AnnotationAssertion( "GARD:8702"^^xsd:string) AnnotationAssertion( "MESH:D065766"^^xsd:string) AnnotationAssertion( "MIM:PS235400"^^xsd:string) AnnotationAssertion( "ORDO:2134"^^xsd:string) AnnotationAssertion( "CD46-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FAMILIAL ATYPICAL HEMOLYTIC-UREMIC SYNDROME"^^xsd:string) AnnotationAssertion( "Non Shiga Like Toxin Associated HUS"^^xsd:string) AnnotationAssertion( "Non Stx Hus"^^xsd:string) AnnotationAssertion( "Nonenteropathic HUS"^^xsd:string) AnnotationAssertion( "atypical hemolytic-uremic syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "AHUS, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "AHUS1"^^xsd:string) AnnotationAssertion( "AHUS2"^^xsd:string) AnnotationAssertion( "AHUS3"^^xsd:string) AnnotationAssertion( "AHUS4"^^xsd:string) AnnotationAssertion( "AHUS5"^^xsd:string) AnnotationAssertion( "AHUS6"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:0080301"^^xsd:string) AnnotationAssertion(rdfs:label "atypical hemolytic-uremic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed sleep apnea) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26681187"^^xsd:string) "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. (DO)"^^xsd:string) AnnotationAssertion( "complex sleep apnea"^^xsd:string) AnnotationAssertion( "mixed central and obstructive sleep apnea"^^xsd:string) AnnotationAssertion( "mixed sleep apneas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080302"^^xsd:string) AnnotationAssertion(rdfs:label "mixed sleep apnea"^^xsd:string) SubClassOf( ) # Class: (mucinous lung adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15628896"^^xsd:string) "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080303"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous lung adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung mucinous cystadenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14602331"^^xsd:string) "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080304"^^xsd:string) AnnotationAssertion(rdfs:label "lung mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (signet ring lung adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string) "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000338"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080305"^^xsd:string) AnnotationAssertion(rdfs:label "signet ring lung adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (solid adenocarcinoma with mucin production) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16463270"^^xsd:string) "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080306"^^xsd:string) AnnotationAssertion(rdfs:label "solid adenocarcinoma with mucin production"^^xsd:string) SubClassOf( ) # Class: (myofibrillar myopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23995273"^^xsd:string) "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10529"^^xsd:string) AnnotationAssertion( "MESH:C580316"^^xsd:string) AnnotationAssertion( "MIM:PS601419"^^xsd:string) AnnotationAssertion( "NCI:C83009"^^xsd:string) AnnotationAssertion( "myofibrillar myopathies"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080307"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 8) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy"^^xsd:string) Annotation( "https://www.omim.org/entry/617258"^^xsd:string) "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2018-06-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617258"^^xsd:string) AnnotationAssertion( "MFM8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080308"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fatal infantile hypertonic myofibrillar myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23995273"^^xsd:string) Annotation( "https://www.omim.org/entry/613869"^^xsd:string) "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2018-06-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613869"^^xsd:string) AnnotationAssertion( "MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related"^^xsd:string) AnnotationAssertion( "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080309"^^xsd:string) AnnotationAssertion(rdfs:label "fatal infantile hypertonic myofibrillar myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16158428"^^xsd:string) "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300486"^^xsd:string) AnnotationAssertion( "MESH:C537456"^^xsd:string) AnnotationAssertion( "MRX60"^^xsd:string) AnnotationAssertion( "OPHN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 60"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Billuart type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080311"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with midbrain and hindbrain malformations) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28453519"^^xsd:string) "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617523"^^xsd:string) AnnotationAssertion( "NEDMHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080312"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with midbrain and hindbrain malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cleft palate-lateral synechia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24163560"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016"^^xsd:string) "A physical disorder that is characterized by fusion of maxilla and mandible. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:119550"^^xsd:string) AnnotationAssertion( "MESH:C563047"^^xsd:string) AnnotationAssertion( "ORDO:2016"^^xsd:string) AnnotationAssertion( "CPLS Syndrome"^^xsd:string) AnnotationAssertion( "syngnathia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080313"^^xsd:string) AnnotationAssertion(rdfs:label "cleft palate-lateral synechia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28125083"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9425234"^^xsd:string) "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:602093"^^xsd:string) AnnotationAssertion( "MESH:C566579"^^xsd:string) AnnotationAssertion( "COD3"^^xsd:string) AnnotationAssertion( "CORD14"^^xsd:string) AnnotationAssertion( "cone dystrophy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080314"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megalencephalic leukoencephalopathy with subcortical cysts) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts"^^xsd:string) "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:3445"^^xsd:string) AnnotationAssertion( "MESH:C536141"^^xsd:string) AnnotationAssertion( "MIM:PS604004"^^xsd:string) AnnotationAssertion( "ORDO:2478"^^xsd:string) AnnotationAssertion( "LVM"^^xsd:string) AnnotationAssertion( "VL"^^xsd:string) AnnotationAssertion( "Van Der Knapp disease"^^xsd:string) AnnotationAssertion( "infantile leukoencephalopathy and megalencephaly"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with swelling and a discrepantly mild course"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with swelling and cysts"^^xsd:string) AnnotationAssertion( "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome"^^xsd:string) AnnotationAssertion( "megalencephaly-cystic leukodystrophy"^^xsd:string) AnnotationAssertion( "vacuolating leukoencephalopathy"^^xsd:string) AnnotationAssertion( "vacuolating megalencephalic leukoencephalopathy with subcortical cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080315"^^xsd:string) AnnotationAssertion(rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (megalencephalic leukoencephalopathy with subcortical cysts 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21419380"^^xsd:string) "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:604004"^^xsd:string) AnnotationAssertion( "MLC1"^^xsd:string) AnnotationAssertion( "Van Der Knaap disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080316"^^xsd:string) AnnotationAssertion(rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megalencephalic leukoencephalopathy with subcortical cysts 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20517947"^^xsd:string) "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "HEPACAM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613926"^^xsd:string) AnnotationAssertion( "MLC2B"^^xsd:string) AnnotationAssertion( "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without impaired intellectual development"^^xsd:string) AnnotationAssertion( "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without intellectual disability"^^xsd:string) AnnotationAssertion( "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without mental retardation"^^xsd:string) AnnotationAssertion( "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080317"^^xsd:string) AnnotationAssertion(rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (megalencephalic leukoencephalopathy with subcortical cysts 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20517947"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21419380"^^xsd:string) "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "HEPACAM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613925"^^xsd:string) AnnotationAssertion( "MLC2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080318"^^xsd:string) AnnotationAssertion(rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes"^^xsd:string) Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=C536288"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476"^^xsd:string) "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-07-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MAGT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300853"^^xsd:string) AnnotationAssertion( "XMEN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080319"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peripheral nervous system benign neoplasm) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680"^^xsd:string) "A central nervous system benign neoplasm the is located_in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080320"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nervous system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autonomic nervous system benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Autonomic_nervous_system"^^xsd:string) "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080321"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic nervous system benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (polycystic kidney disease) AnnotationAssertion(Annotation( "https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd"^^xsd:string) "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000807"^^xsd:string) AnnotationAssertion( "EFO:0008620"^^xsd:string) AnnotationAssertion( "EFO:0008621"^^xsd:string) AnnotationAssertion( "MESH:D007690"^^xsd:string) AnnotationAssertion( "MIM:PS173900"^^xsd:string) AnnotationAssertion( "NCI:C75464"^^xsd:string) AnnotationAssertion( "polycystic kidney"^^xsd:string) AnnotationAssertion( "polycystic kidney diseases"^^xsd:string) AnnotationAssertion( "polycystic kidneys"^^xsd:string) AnnotationAssertion( "polycystic renal disease"^^xsd:string) AnnotationAssertion( "polycystic renal diseases"^^xsd:string) AnnotationAssertion( "Microcystic Renal Disease"^^xsd:string) AnnotationAssertion( "polycystic kidney disease, adult type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080322"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/"^^xsd:string) "A squamous cell carcinoma located in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080323"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberous sclerosis 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/191100"^^xsd:string) "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:191100"^^xsd:string) AnnotationAssertion( "MESH:C565346"^^xsd:string) AnnotationAssertion( "NCI:C75122"^^xsd:string) AnnotationAssertion( "TSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080324"^^xsd:string) AnnotationAssertion(rdfs:label "tuberous sclerosis 1"^^xsd:string) SubClassOf( ) # Class: (tuberous sclerosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28667702"^^xsd:string) Annotation( "https://www.omim.org/entry/613254"^^xsd:string) "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613254"^^xsd:string) AnnotationAssertion( "MESH:C566021"^^xsd:string) AnnotationAssertion( "NCI:C75331"^^xsd:string) AnnotationAssertion( "TSC2"^^xsd:string) AnnotationAssertion( "TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080325"^^xsd:string) AnnotationAssertion(rdfs:label "tuberous sclerosis 2"^^xsd:string) SubClassOf( ) # Class: (familial hypertrophic cardiomyopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes"^^xsd:string) "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D024741"^^xsd:string) AnnotationAssertion( "MIM:PS192600"^^xsd:string) AnnotationAssertion( "NCI:C84773"^^xsd:string) AnnotationAssertion( "ORDO:217569"^^xsd:string) AnnotationAssertion( "familial asymmetric septal hypertrophy"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathies"^^xsd:string) AnnotationAssertion( "familial ventricular hypertrophies"^^xsd:string) AnnotationAssertion( "familial ventricular hypertrophy"^^xsd:string) AnnotationAssertion( "hereditary ventricular hypertrophies"^^xsd:string) AnnotationAssertion( "hereditary ventricular hypertrophy"^^xsd:string) AnnotationAssertion( "obstructive asymmetric septal hypertrophy"^^xsd:string) AnnotationAssertion( "primary familial hypertrophic cardiomyopathy"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL"^^xsd:string) AnnotationAssertion( "hypertrophic cardiomyopathy, mitochondrial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080326"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypertrophic cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986"^^xsd:string) "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236500"^^xsd:string) AnnotationAssertion( "MARCH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080327"^^xsd:string) AnnotationAssertion(rdfs:label "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Culler-Jones syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444"^^xsd:string) "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. (DO)"^^xsd:string) AnnotationAssertion( "GLI2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GLI2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:13349"^^xsd:string) AnnotationAssertion( "MIM:615849"^^xsd:string) AnnotationAssertion( "CJS"^^xsd:string) AnnotationAssertion( "PHS2"^^xsd:string) AnnotationAssertion( "Pallister-Hall syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080328"^^xsd:string) AnnotationAssertion(rdfs:label "Culler-Jones syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cold-induced sweating syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK52917/"^^xsd:string) "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272430"^^xsd:string) AnnotationAssertion( "NCI:C173147"^^xsd:string) AnnotationAssertion( "CISS1"^^xsd:string) AnnotationAssertion( "Crisponi/cold-induced sweating syndrome 1"^^xsd:string) AnnotationAssertion( "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080329"^^xsd:string) AnnotationAssertion(rdfs:label "cold-induced sweating syndrome 1"^^xsd:string) SubClassOf( ) # Class: (cold-induced sweating syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20400119"^^xsd:string) "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610313"^^xsd:string) AnnotationAssertion( "NCI:C173148"^^xsd:string) AnnotationAssertion( "CISS2"^^xsd:string) AnnotationAssertion( "Crisponi/cold-induced sweating syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080330"^^xsd:string) AnnotationAssertion(rdfs:label "cold-induced sweating syndrome 2"^^xsd:string) SubClassOf( ) # Class: (cold-induced sweating syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27392078"^^xsd:string) "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "KLHL7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617055"^^xsd:string) AnnotationAssertion( "CISS3"^^xsd:string) AnnotationAssertion( "Crisponi/cold-induced sweating syndrome 3"^^xsd:string) AnnotationAssertion( "PERCHING"^^xsd:string) AnnotationAssertion( "PERCHING syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080331"^^xsd:string) AnnotationAssertion(rdfs:label "cold-induced sweating syndrome 3"^^xsd:string) SubClassOf( ) # Class: (bicuspid aortic valve disease) AnnotationAssertion(Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075"^^xsd:string) "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000082882"^^xsd:string) AnnotationAssertion( "MIM:PS109730"^^xsd:string) AnnotationAssertion( "ORDO:402075"^^xsd:string) AnnotationAssertion( "BAV"^^xsd:string) AnnotationAssertion( "bicuspid aortic valve"^^xsd:string) AnnotationAssertion( "familial bicuspid aortic valve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080332"^^xsd:string) AnnotationAssertion(rdfs:label "bicuspid aortic valve disease"^^xsd:string) SubClassOf( ) # Class: (aortic valve disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23388002"^^xsd:string) "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "NOTCH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NOTCH1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:109730"^^xsd:string) AnnotationAssertion( "MONDO:0024523"^^xsd:string) AnnotationAssertion( "NCI:C128803"^^xsd:string) AnnotationAssertion( "NCI:C192088"^^xsd:string) AnnotationAssertion( "AOVD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "calcific aortic stenosis"^^xsd:string) AnnotationAssertion( "calcific aortic valve disease"^^xsd:string) AnnotationAssertion( "calcification of aortic valve"^^xsd:string) AnnotationAssertion( "DOID:0080333"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aortic valve disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22275001"^^xsd:string) "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614823"^^xsd:string) AnnotationAssertion( "AOVD2"^^xsd:string) AnnotationAssertion( "bicommissural aortic valve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "aortic valve stenosis"^^xsd:string) AnnotationAssertion( "DOID:0080334"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 12b) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/SLC25A4#conditions"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22187496"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27693233"^^xsd:string) Annotation( "https://www.omim.org/entry/615418"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615418"^^xsd:string) AnnotationAssertion( "ORDO:1369"^^xsd:string) AnnotationAssertion( "MTDPS12B"^^xsd:string) AnnotationAssertion( "autosomal recessive mitochondrial DNA depletion syndrome-12B"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080335"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 12b"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26561570"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28494813"^^xsd:string) Annotation( "https://www.omim.org/entry/616896"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616896"^^xsd:string) AnnotationAssertion( "MTDPS14"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080336"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial DNA depletion syndrome 15) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/TFAM#conditions"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27448789"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28215579"^^xsd:string) Annotation( "https://www.omim.org/entry/617156"^^xsd:string) "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001295"^^xsd:string) AnnotationAssertion( "MIM:617156"^^xsd:string) AnnotationAssertion( "MTDPS15"^^xsd:string) AnnotationAssertion( "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080337"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial DNA depletion syndrome 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16407130"^^xsd:string) "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609820"^^xsd:string) AnnotationAssertion( "MESH:C565221"^^xsd:string) AnnotationAssertion( "ECYT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080338"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18184961"^^xsd:string) "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611783"^^xsd:string) AnnotationAssertion( "MESH:C567086"^^xsd:string) AnnotationAssertion( "ECYT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080339"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 4"^^xsd:string) SubClassOf( ) # Class: (Simpson-Golabi-Behmel syndrome type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16783569"^^xsd:string) "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300209"^^xsd:string) AnnotationAssertion( "MESH:C564567"^^xsd:string) AnnotationAssertion( "SGBS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080342"^^xsd:string) AnnotationAssertion(rdfs:label "Simpson-Golabi-Behmel syndrome type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive pyridoxine-refractory sideroblastic anemia 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616860?search=616860&highlight=616860"^^xsd:string) "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000362"^^xsd:string) AnnotationAssertion( "MIM:616860"^^xsd:string) AnnotationAssertion( "SIDBA3"^^xsd:string) AnnotationAssertion( "pyridoxine-refractory sideroblastic anemia 3"^^xsd:string) AnnotationAssertion( "sideroblastic anemia-3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080343"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive pyridoxine-refractory sideroblastic anemia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blepharocheilodontic syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string) "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536188"^^xsd:string) AnnotationAssertion( "MIM:PS119580"^^xsd:string) AnnotationAssertion( "Blepharo-Cheilo-Dontic Syndrome"^^xsd:string) AnnotationAssertion( "Clefting, ectropion, and conical teeth"^^xsd:string) AnnotationAssertion( "ECTROPION INFERIOR CLEFT LIP AND OR PALATE"^^xsd:string) AnnotationAssertion( "Elschnig syndrome"^^xsd:string) AnnotationAssertion( "blepharo-cheilo-odontic syndrome"^^xsd:string) AnnotationAssertion( "lagophthalmia with bilateral cleft lip and palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080344"^^xsd:string) AnnotationAssertion(rdfs:label "blepharocheilodontic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blepharocheilodontic syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string) "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9005143"^^xsd:string) AnnotationAssertion( "MIM:119580"^^xsd:string) AnnotationAssertion( "BCDS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080345"^^xsd:string) AnnotationAssertion(rdfs:label "blepharocheilodontic syndrome 1"^^xsd:string) SubClassOf( ) # Class: (blepharocheilodontic syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28301459"^^xsd:string) "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617681"^^xsd:string) AnnotationAssertion( "BCDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080346"^^xsd:string) AnnotationAssertion(rdfs:label "blepharocheilodontic syndrome 2"^^xsd:string) SubClassOf( ) # Class: (malignant pheochromocytoma) AnnotationAssertion(Annotation( "https://www.omim.org/entry/171300"^^xsd:string) "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8700/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080347"^^xsd:string) AnnotationAssertion(rdfs:label "malignant pheochromocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/104300?search=104300&highlight=104300"^^xsd:string) "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005726"^^xsd:string) AnnotationAssertion( "MIM:104300"^^xsd:string) AnnotationAssertion( "APP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536594"^^xsd:string) AnnotationAssertion( "AD1"^^xsd:string) AnnotationAssertion( "Alzheimer Disease Type 1"^^xsd:string) AnnotationAssertion( "Alzheimer disease 1"^^xsd:string) AnnotationAssertion( "Alzheimer's Disease Type 1"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 1, early onset"^^xsd:string) AnnotationAssertion( "early-onset familial form of Alzheimer disease"^^xsd:string) AnnotationAssertion( "Alzheimer's Disease, Familial, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APP POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:0080348"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 39) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19641205/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24515575/"^^xsd:string) Annotation( "https://www.omim.org/entry/612949?search=612949"^^xsd:string) "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612949"^^xsd:string) AnnotationAssertion( "MESH:C567847"^^xsd:string) AnnotationAssertion( "ORDO:353217"^^xsd:string) AnnotationAssertion( "AGC1 deficiency"^^xsd:string) AnnotationAssertion( "DEE39"^^xsd:string) AnnotationAssertion( "EIEE39"^^xsd:string) AnnotationAssertion( "aspartate-glutamate carrier 1 deficiency"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 39"^^xsd:string) AnnotationAssertion( "epileptic encephalopathy with global cerebral demyelination"^^xsd:string) AnnotationAssertion( "global cerebral hypomyelination"^^xsd:string) AnnotationAssertion( "mitochondrial aspartate-glutamate carrier 1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080349"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 39"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 77) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617304"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617304"^^xsd:string) AnnotationAssertion( "REEP6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RP77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080350"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 77"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CLOVES syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25209813"^^xsd:string) "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612918"^^xsd:string) AnnotationAssertion( "GARD:10939"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.3"^^xsd:string) AnnotationAssertion( "MESH:C567863"^^xsd:string) AnnotationAssertion( "ORDO:140944"^^xsd:string) AnnotationAssertion( "Clove Syndrome"^^xsd:string) AnnotationAssertion( "Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities"^^xsd:string) AnnotationAssertion( "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080351"^^xsd:string) AnnotationAssertion(rdfs:label "CLOVES syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked chondrodysplasia punctata 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2"^^xsd:string) "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302960"^^xsd:string) AnnotationAssertion( "CDPX2"^^xsd:string) AnnotationAssertion( "CDPXD"^^xsd:string) AnnotationAssertion( "CPXD"^^xsd:string) AnnotationAssertion( "Conradi Hunermann Syndrome"^^xsd:string) AnnotationAssertion( "Conradi Hünermann Happle syndrome"^^xsd:string) AnnotationAssertion( "Conradi Hünermann Syndrome"^^xsd:string) AnnotationAssertion( "Conradi-Hunermann-Happle Syndrome"^^xsd:string) AnnotationAssertion( "Happle syndrome"^^xsd:string) AnnotationAssertion( "X-linked dominant chondrodysplasia punctata 2"^^xsd:string) AnnotationAssertion( "atypical X-linked dominant chondrodysplasia punctata 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080352"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked chondrodysplasia punctata 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked recessive hypophosphatemic rickets) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets"^^xsd:string) "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080353"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked recessive hypophosphatemic rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phelan-McDermid syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/22q13_deletion_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1198/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29719671"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29896732"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30089781"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652"^^xsd:string) "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606232"^^xsd:string) AnnotationAssertion( "SHANK3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SHANK3-related disorder"^^xsd:string) AnnotationAssertion( "GARD:10130"^^xsd:string) AnnotationAssertion( "MESH:C536801"^^xsd:string) AnnotationAssertion( "NCI:C157124"^^xsd:string) AnnotationAssertion( "ORDO:48652"^^xsd:string) AnnotationAssertion( "22q13 deletion syndrome"^^xsd:string) AnnotationAssertion( "22q13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "PHMDS"^^xsd:string) AnnotationAssertion( "chromosome 22q13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "monosomy 22q13"^^xsd:string) AnnotationAssertion( "monosomy 22q13 syndrome"^^xsd:string) AnnotationAssertion( "telomeric 22q13 monosomy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080354"^^xsd:string) AnnotationAssertion(rdfs:label "Phelan-McDermid syndrome"^^xsd:string) SubClassOf( ) # Class: (hepatobiliary system cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/"^^xsd:string) "A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080355"^^xsd:string) AnnotationAssertion(rdfs:label "hepatobiliary system cancer"^^xsd:string) SubClassOf( ) # Class: (IgG4-related disease) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/12521/index"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760655/"^^xsd:string) Annotation( "https://www.nejm.org/doi/full/10.1056/NEJMra1104650"^^xsd:string) "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12521"^^xsd:string) AnnotationAssertion( "NCI:C95992"^^xsd:string) AnnotationAssertion( "ORDO:284264"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080356"^^xsd:string) AnnotationAssertion(rdfs:label "IgG4-related disease"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10746561/"^^xsd:string) "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604377"^^xsd:string) AnnotationAssertion( "MESH:C565784"^^xsd:string) AnnotationAssertion( "CEMCOX1"^^xsd:string) AnnotationAssertion( "MC4DN2"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1"^^xsd:string) AnnotationAssertion( "fatal infantile cytochrome c oxidase deficiency with cardioencephalomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080357"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10545952/"^^xsd:string) "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615119"^^xsd:string) AnnotationAssertion( "CEMCOX2"^^xsd:string) AnnotationAssertion( "MC4DN6"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080358"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12928484/"^^xsd:string) "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616500"^^xsd:string) AnnotationAssertion( "CEMCOX3"^^xsd:string) AnnotationAssertion( "MC4DN9"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080359"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial complex IV deficiency nuclear type 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25339201/"^^xsd:string) "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616501"^^xsd:string) AnnotationAssertion( "CEMCOX4"^^xsd:string) AnnotationAssertion( "MC4DN13"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4"^^xsd:string) AnnotationAssertion( "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080360"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex IV deficiency nuclear type 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trimethylaminuria) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trimethylaminuria"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Trimethylaminuria"^^xsd:string) "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602079"^^xsd:string) AnnotationAssertion( "GARD:6447"^^xsd:string) AnnotationAssertion( "MESH:C536561"^^xsd:string) AnnotationAssertion( "ORDO:468726"^^xsd:string) AnnotationAssertion( "TMAU"^^xsd:string) AnnotationAssertion( "TMAuria"^^xsd:string) AnnotationAssertion( "fish malodor syndrome"^^xsd:string) AnnotationAssertion( "fish odor syndrome"^^xsd:string) AnnotationAssertion( "stale fish syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080361"^^xsd:string) AnnotationAssertion(rdfs:label "trimethylaminuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spondyloepiphyseal dysplasia tarda) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda"^^xsd:string) "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:313400"^^xsd:string) AnnotationAssertion( "ORDO:93284"^^xsd:string) AnnotationAssertion( "SED tarda"^^xsd:string) AnnotationAssertion( "SED tarda, X-linked"^^xsd:string) AnnotationAssertion( "SEDT"^^xsd:string) AnnotationAssertion( "X-linked SED"^^xsd:string) AnnotationAssertion( "X-linked SEDT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080362"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spondyloepiphyseal dysplasia tarda"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial pyruvate carrier deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22628558"^^xsd:string) "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614741"^^xsd:string) AnnotationAssertion( "NCI:C202117"^^xsd:string) AnnotationAssertion( "ORDO:447784"^^xsd:string) AnnotationAssertion( "MPYCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080363"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial pyruvate carrier deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant adenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18363065/"^^xsd:string) "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. (DO)"^^xsd:string) AnnotationAssertion( "malignant adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080364"^^xsd:string) AnnotationAssertion(rdfs:label "malignant adenoma"^^xsd:string) SubClassOf( ) # Class: (endometrial hyperplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometrial_hyperplasia"^^xsd:string) "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000098"^^xsd:string) AnnotationAssertion( "EFO:1000202"^^xsd:string) AnnotationAssertion( "EFO:1000525"^^xsd:string) AnnotationAssertion( "EFO:1000526"^^xsd:string) AnnotationAssertion( "MESH:D004714"^^xsd:string) AnnotationAssertion( "endometrial hyperplasias"^^xsd:string) AnnotationAssertion( "Simple Endometrial Hyperplasia with Atypia"^^xsd:string) AnnotationAssertion( "simple endometrial hyperplasia"^^xsd:string) AnnotationAssertion( "simple endometrial hyperplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080365"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (desmoid tumor) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/desmoid-tumor"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/desmoid-tumor/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28489620"^^xsd:string) "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009907"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080366"^^xsd:string) AnnotationAssertion(rdfs:label "desmoid tumor"^^xsd:string) SubClassOf( ) # Class: (chronic eosinophilic leukemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia"^^xsd:string) "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000178"^^xsd:string) AnnotationAssertion( "ICDO:9964/3"^^xsd:string) AnnotationAssertion( "NCI:C4563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080367"^^xsd:string) AnnotationAssertion(rdfs:label "chronic eosinophilic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sex cord-stromal benign neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor"^^xsd:string) "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080368"^^xsd:string) AnnotationAssertion(rdfs:label "sex cord-stromal benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (ovarian sex-cord stromal tumor) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit"^^xsd:string) "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000424"^^xsd:string) AnnotationAssertion( "EFO:1000426"^^xsd:string) AnnotationAssertion( "EFO:1000430"^^xsd:string) AnnotationAssertion( "NCI:C4862"^^xsd:string) AnnotationAssertion( "Ovarian Sclerosing Stromal Tumor"^^xsd:string) AnnotationAssertion( "Ovarian Sex Cord Tumor with Annular Tubules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080369"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian sex-cord stromal tumor"^^xsd:string) SubClassOf( ) # Class: (ovarian sex cord-stromal benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/"^^xsd:string) "A sex cord-stromal benign neoplasm that arises from the ovary. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6803"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080370"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian sex cord-stromal benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (testicular sex cord-stromal benign neoplasm) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/testissexcordgeneral.html"^^xsd:string) "A sex cord-stromal benign neoplasm that arises from the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080371"^^xsd:string) AnnotationAssertion(rdfs:label "testicular sex cord-stromal benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (epithelioid inflammatory myofibroblastic sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21164297"^^xsd:string) "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080372"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid inflammatory myofibroblastic sarcoma"^^xsd:string) SubClassOf( ) # Class: (epididymis disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Epididymis"^^xsd:string) "A male reproductive system disease that is located_in the epididymis. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080373"^^xsd:string) AnnotationAssertion(rdfs:label "epididymis disease"^^xsd:string) SubClassOf( ) # Class: (gastroesophageal cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434"^^xsd:string) "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080374"^^xsd:string) AnnotationAssertion(rdfs:label "gastroesophageal cancer"^^xsd:string) SubClassOf( ) # Class: (gastroesophageal adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797"^^xsd:string) "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "gastric and esophageal adenocarcinoma"^^xsd:string) AnnotationAssertion( "gastro-esophageal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080375"^^xsd:string) AnnotationAssertion(rdfs:label "gastroesophageal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichorhinophalangeal syndrome type III) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7802/disease"^^xsd:string) "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:190351"^^xsd:string) AnnotationAssertion( "MESH:C566033"^^xsd:string) AnnotationAssertion( "ORDO:77258"^^xsd:string) AnnotationAssertion( "Sugio-Kajii syndrome"^^xsd:string) AnnotationAssertion( "TRPS3"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal syndrome type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080376"^^xsd:string) AnnotationAssertion(rdfs:label "trichorhinophalangeal syndrome type III"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peroxisomal biogenesis disorder) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26627182"^^xsd:string) "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536664"^^xsd:string) AnnotationAssertion( "MIM:PS214100"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorders"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER DUE TO PEX5 DEFECT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080377"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisomal biogenesis disorder"^^xsd:string) SubClassOf( ) # Class: (nephrotic syndrome type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10742096"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8606597"^^xsd:string) "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600995"^^xsd:string) AnnotationAssertion( "MESH:C536404"^^xsd:string) AnnotationAssertion( "NPHS2"^^xsd:string) AnnotationAssertion( "NPHS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SRN1"^^xsd:string) AnnotationAssertion( "steroid-resistant nephrotic syndrome"^^xsd:string) AnnotationAssertion( "steroid-resistant nephrotic syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "steroid-resistant nephrotic syndrome, familial idiopathic"^^xsd:string) AnnotationAssertion( "steroid-resistant nephrotic syndrome, idiopathic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "nephrotic syndrome type 2, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080379"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16912710"^^xsd:string) "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007459"^^xsd:string) AnnotationAssertion( "MESH:C565405"^^xsd:string) AnnotationAssertion( "MIM:614199"^^xsd:string) AnnotationAssertion( "Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities"^^xsd:string) AnnotationAssertion( "NPHS5"^^xsd:string) AnnotationAssertion( "nephrotic syndrome type 5, with or without ocular abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080380"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26878725"^^xsd:string) "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616893"^^xsd:string) AnnotationAssertion( "NPHS13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080381"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17086182"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18065803"^^xsd:string) "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610725"^^xsd:string) AnnotationAssertion( "NPHS3"^^xsd:string) AnnotationAssertion( "PLCE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early-onset nephrotic syndrome type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080382"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9529364"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256370"^^xsd:string) AnnotationAssertion( "MONDO:0009733"^^xsd:string) AnnotationAssertion( "NPHS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080383"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21722858"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614196"^^xsd:string) AnnotationAssertion( "NPHS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080384"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26411495"^^xsd:string) "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616730"^^xsd:string) AnnotationAssertion( "NPHS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080385"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24814193"^^xsd:string) "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001503"^^xsd:string) AnnotationAssertion( "MIM:615861"^^xsd:string) AnnotationAssertion( "NPHS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080386"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26878725"^^xsd:string) "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616892"^^xsd:string) AnnotationAssertion( "NPHS12"^^xsd:string) AnnotationAssertion( "NUP93-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080387"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23274426"^^xsd:string) "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615008"^^xsd:string) AnnotationAssertion( "ORDO:329903"^^xsd:string) AnnotationAssertion( "DGKE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Ig-mediated MPGN"^^xsd:string) AnnotationAssertion( "Ig-mediated membranoproliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "Immunoglobulin-mediated MPGN"^^xsd:string) AnnotationAssertion( "NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS"^^xsd:string) AnnotationAssertion( "NPHS7"^^xsd:string) AnnotationAssertion( "immunoglobulin-mediated membranoproliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "AHUS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AHUS, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY"^^xsd:string) AnnotationAssertion( "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "DOID:0080388"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23434736"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23867502"^^xsd:string) "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615244"^^xsd:string) AnnotationAssertion( "NPHS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080389"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10577936"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9660941"^^xsd:string) "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1500"^^xsd:string) AnnotationAssertion( "MIM:256300"^^xsd:string) AnnotationAssertion( "NCI:C122795"^^xsd:string) AnnotationAssertion( "NCI:C122796"^^xsd:string) AnnotationAssertion( "ORDO:839"^^xsd:string) AnnotationAssertion( "Congenital nephrotic syndrome 1"^^xsd:string) AnnotationAssertion( "Congenital nephrotic syndrome, Finnish type"^^xsd:string) AnnotationAssertion( "Finnish congenital nephrosis"^^xsd:string) AnnotationAssertion( "Finnish congenital nephrotic syndrome"^^xsd:string) AnnotationAssertion( "NPHS1"^^xsd:string) AnnotationAssertion( "NPHS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital nephrosis 1, Finnish type"^^xsd:string) AnnotationAssertion( "idiopathic nephrotic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080390"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24270420"^^xsd:string) "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615573"^^xsd:string) AnnotationAssertion( "NPHS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080391"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618176"^^xsd:string) AnnotationAssertion( "NPHS17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080392"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618177"^^xsd:string) AnnotationAssertion( "NPHS18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080393"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30179222"^^xsd:string) "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618178"^^xsd:string) AnnotationAssertion( "NPHS19"^^xsd:string) AnnotationAssertion( "NUP160-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080394"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7711723"^^xsd:string) "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119530"^^xsd:string) AnnotationAssertion( "MESH:C566121"^^xsd:string) AnnotationAssertion( "NCI:C124838"^^xsd:string) AnnotationAssertion( "OFC1"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080395"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2570526"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602966"^^xsd:string) AnnotationAssertion( "MESH:C566419"^^xsd:string) AnnotationAssertion( "OFC2"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080396"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 2"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7668251"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600757"^^xsd:string) AnnotationAssertion( "MESH:C563448"^^xsd:string) AnnotationAssertion( "OFC3"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080397"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 3"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12087515"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7820940"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608371"^^xsd:string) AnnotationAssertion( "MESH:C564251"^^xsd:string) AnnotationAssertion( "OFC4"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080398"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 4"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10742093"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12807959"^^xsd:string) "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608874"^^xsd:string) AnnotationAssertion( "MESH:C563843"^^xsd:string) AnnotationAssertion( "OFC5"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080399"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 5"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10932188"^^xsd:string) "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563464"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080400"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29500247"^^xsd:string) "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618149"^^xsd:string) AnnotationAssertion( "MESH:C565069"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080401"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 8"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16909398"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610361"^^xsd:string) AnnotationAssertion( "MESH:C563675"^^xsd:string) AnnotationAssertion( "OFC9"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080402"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 9"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16990542"^^xsd:string) "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613705"^^xsd:string) AnnotationAssertion( "MESH:C566605"^^xsd:string) AnnotationAssertion( "OFC10"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080403"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 10"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19249007"^^xsd:string) "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600625"^^xsd:string) AnnotationAssertion( "BMP4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567410"^^xsd:string) AnnotationAssertion( "OFC11"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 11"^^xsd:string) AnnotationAssertion( "CHCL"^^xsd:string) AnnotationAssertion( "CONGENITAL HEALED CLEFT LIP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080404"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 11"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19270707"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612858"^^xsd:string) AnnotationAssertion( "MESH:C567548"^^xsd:string) AnnotationAssertion( "OFC12"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080405"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 12"^^xsd:string) SubClassOf( ) # Class: (orofacial cleft 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21295280"^^xsd:string) "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613857"^^xsd:string) AnnotationAssertion( "OFC13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080406"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 14) AnnotationAssertion(Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942"^^xsd:string) "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615892"^^xsd:string) AnnotationAssertion( "OFC14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080407"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25954033"^^xsd:string) "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616788"^^xsd:string) AnnotationAssertion( "OFC15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080408"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 15"^^xsd:string) SubClassOf( ) # Class: (familial adenomatous polyposis 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1651563"^^xsd:string) "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175100"^^xsd:string) AnnotationAssertion( "FAP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080409"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adenomatous polyposis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12853198"^^xsd:string) "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608456"^^xsd:string) AnnotationAssertion( "EFO:0009296"^^xsd:string) AnnotationAssertion( "ICD10CM:D12.6"^^xsd:string) AnnotationAssertion( "MESH:C563924"^^xsd:string) AnnotationAssertion( "ORDO:247798"^^xsd:string) AnnotationAssertion( "Colorectal Adenomatous Polyposis, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "FAP2"^^xsd:string) AnnotationAssertion( "MUTYH-related attenuated FAP"^^xsd:string) AnnotationAssertion( "MUTYH-related attenuated familial adenomatous polyposis"^^xsd:string) AnnotationAssertion( "MUTYH-related attenuated familial polyposis coli"^^xsd:string) AnnotationAssertion( "multiple colorectal adenomas, autosomal recessive"^^xsd:string) AnnotationAssertion( "mutyh-associated polyposis"^^xsd:string) AnnotationAssertion( "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080410"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adenomatous polyposis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25938944"^^xsd:string) "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616415"^^xsd:string) AnnotationAssertion( "FAP3"^^xsd:string) AnnotationAssertion( "NTHL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080411"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adenomatous polyposis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27476653"^^xsd:string) "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. (DO)"^^xsd:string) AnnotationAssertion( "MSH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617100"^^xsd:string) AnnotationAssertion( "FAP4"^^xsd:string) AnnotationAssertion( "MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080412"^^xsd:string) AnnotationAssertion(rdfs:label "familial adenomatous polyposis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23932106"^^xsd:string) "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13676"^^xsd:string) AnnotationAssertion( "MIM:615476"^^xsd:string) AnnotationAssertion( "DEE18"^^xsd:string) AnnotationAssertion( "EIEE18"^^xsd:string) AnnotationAssertion( "SZT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080413"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 18"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23252400"^^xsd:string) "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615006"^^xsd:string) AnnotationAssertion( "DEE15"^^xsd:string) AnnotationAssertion( "EIEE15"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 15"^^xsd:string) AnnotationAssertion( "epilepsy due to perinatal stroke"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080414"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24814191"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615859"^^xsd:string) AnnotationAssertion( "ORDO:411986"^^xsd:string) AnnotationAssertion( "DEE23"^^xsd:string) AnnotationAssertion( "EIEE23"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 23"^^xsd:string) AnnotationAssertion( "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080415"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 23"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 32) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25751627"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616366"^^xsd:string) AnnotationAssertion( "NCI:C155998"^^xsd:string) AnnotationAssertion( "DEE32"^^xsd:string) AnnotationAssertion( "EIEE32"^^xsd:string) AnnotationAssertion( "KCNA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KCNA2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080416"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 32"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 38) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32165008/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25558065"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27270415"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "ARV1-related condition"^^xsd:string) AnnotationAssertion( "MIM:617020"^^xsd:string) AnnotationAssertion( "DEE38"^^xsd:string) AnnotationAssertion( "EIEE38"^^xsd:string) AnnotationAssertion( "GPIBD23"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 38"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080417"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 38"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 54) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27652284"^^xsd:string) "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617391"^^xsd:string) AnnotationAssertion( "DEE54"^^xsd:string) AnnotationAssertion( "EIEE54"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080418"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 54"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 50) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28007989"^^xsd:string) "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13621"^^xsd:string) AnnotationAssertion( "MIM:616457"^^xsd:string) AnnotationAssertion( "NCI:C190868"^^xsd:string) AnnotationAssertion( "ORDO:448010"^^xsd:string) AnnotationAssertion( "CDG syndrome type Iz"^^xsd:string) AnnotationAssertion( "CDG-Iz"^^xsd:string) AnnotationAssertion( "CDG1Z"^^xsd:string) AnnotationAssertion( "DEE50"^^xsd:string) AnnotationAssertion( "EIEE50"^^xsd:string) AnnotationAssertion( "carbohydrate deficient glycoprotein syndrome type Iz"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1Z"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Iz"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080419"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 50"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 62) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29466837"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "SCN3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617938"^^xsd:string) AnnotationAssertion( "DEE62"^^xsd:string) AnnotationAssertion( "EIEE62"^^xsd:string) AnnotationAssertion( "SCN3A-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080420"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 62"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19786696"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "COMPLEX NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "SCN2A-related disorder"^^xsd:string) AnnotationAssertion( "MIM:613721"^^xsd:string) AnnotationAssertion( "MONDO:0013388"^^xsd:string) AnnotationAssertion( "NCI:C172096"^^xsd:string) AnnotationAssertion( "DEE11"^^xsd:string) AnnotationAssertion( "EIEE11"^^xsd:string) AnnotationAssertion( "SCN2A-RELATED GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 11"^^xsd:string) AnnotationAssertion( "EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080421"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dravet syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27544470/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11359211"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060171"^^xsd:string) AnnotationAssertion( "GARD:10430"^^xsd:string) AnnotationAssertion( "MIM:607208"^^xsd:string) AnnotationAssertion( "NCI:C116573"^^xsd:string) AnnotationAssertion( "NCI:C147071"^^xsd:string) AnnotationAssertion( "ORDO:33069"^^xsd:string) AnnotationAssertion( "DEE6"^^xsd:string) AnnotationAssertion( "DEE6A"^^xsd:string) AnnotationAssertion( "Dravet syndromes"^^xsd:string) AnnotationAssertion( "EIEE6"^^xsd:string) AnnotationAssertion( "SMEI"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 6"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 6A"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 6"^^xsd:string) AnnotationAssertion( "severe myoclonic epilepsy in infancy"^^xsd:string) AnnotationAssertion( "severe myoclonic epilepsy of infancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080422"^^xsd:string) AnnotationAssertion(rdfs:label "Dravet syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27545681/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27545674"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "UBA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617132"^^xsd:string) AnnotationAssertion( "NCI:C202547"^^xsd:string) AnnotationAssertion( "DEE44"^^xsd:string) AnnotationAssertion( "EIEE44"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080424"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 44"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27872899/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27164707"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617166"^^xsd:string) AnnotationAssertion( "NCI:C201514"^^xsd:string) AnnotationAssertion( "DEE47"^^xsd:string) AnnotationAssertion( "EIEE47"^^xsd:string) AnnotationAssertion( "FGF12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080425"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 47"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 63) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28422131/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26539891"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617976"^^xsd:string) AnnotationAssertion( "DEE63"^^xsd:string) AnnotationAssertion( "EIEE63"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080426"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 63"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26486472"^^xsd:string) "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617065"^^xsd:string) AnnotationAssertion( "DEE40"^^xsd:string) AnnotationAssertion( "EIEE40"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080427"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 40"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31618474/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23934111"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617153"^^xsd:string) AnnotationAssertion( "DEE45"^^xsd:string) AnnotationAssertion( "EIEE45"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080428"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 45"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30351409/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24747641"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615871"^^xsd:string) AnnotationAssertion( "DEE24"^^xsd:string) AnnotationAssertion( "EIEE24"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080429"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 24"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 65) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29534297"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618008"^^xsd:string) AnnotationAssertion( "NCI:C201518"^^xsd:string) AnnotationAssertion( "CYFIP2-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "DEE65"^^xsd:string) AnnotationAssertion( "EIEE65"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080430"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 65"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24623842"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615744"^^xsd:string) AnnotationAssertion( "NCI:C142802"^^xsd:string) AnnotationAssertion( "DEE19"^^xsd:string) AnnotationAssertion( "EIEE19"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080431"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 19"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 60) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29394991"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617929"^^xsd:string) AnnotationAssertion( "DEE60"^^xsd:string) AnnotationAssertion( "EIEE60"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 60"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080432"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 60"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 51) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27989324"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617339"^^xsd:string) AnnotationAssertion( "MONDO:0015025"^^xsd:string) AnnotationAssertion( "DEE51"^^xsd:string) AnnotationAssertion( "EIEE51"^^xsd:string) AnnotationAssertion( "MDH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080433"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 51"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 61) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27066583"^^xsd:string) "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617933"^^xsd:string) AnnotationAssertion( "DEE61"^^xsd:string) AnnotationAssertion( "EIEE61"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080434"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 61"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27236917"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616981"^^xsd:string) AnnotationAssertion( "DEE37"^^xsd:string) AnnotationAssertion( "EIEE37"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080435"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 37"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19557857/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18469812"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612164"^^xsd:string) AnnotationAssertion( "STXBP1-associated neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "MESH:C567404"^^xsd:string) AnnotationAssertion( "NCI:C162472"^^xsd:string) AnnotationAssertion( "DEE4"^^xsd:string) AnnotationAssertion( "EIEE4"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080436"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 31A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25533962/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25262651"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616346"^^xsd:string) AnnotationAssertion( "MONDO:0014598"^^xsd:string) AnnotationAssertion( "NCI:C185237"^^xsd:string) AnnotationAssertion( "DEE31"^^xsd:string) AnnotationAssertion( "DEE31A"^^xsd:string) AnnotationAssertion( "EIEE31"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 31"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 31A, autosomal dominant"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080437"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 31A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20493457"^^xsd:string) "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613477"^^xsd:string) AnnotationAssertion( "DEE5"^^xsd:string) AnnotationAssertion( "EIEE5"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080438"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23086397"^^xsd:string) "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614959"^^xsd:string) AnnotationAssertion( "NCI:C188141"^^xsd:string) AnnotationAssertion( "DEE14"^^xsd:string) AnnotationAssertion( "EIEE14"^^xsd:string) AnnotationAssertion( "MMPSI"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 14"^^xsd:string) AnnotationAssertion( "malignant migrating partial seizures of infancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080439"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15592994"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609304"^^xsd:string) AnnotationAssertion( "MESH:C562695"^^xsd:string) AnnotationAssertion( "DEE3"^^xsd:string) AnnotationAssertion( "EIEE3"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 3"^^xsd:string) AnnotationAssertion( "neonatal myoclonic epilepsy with suppression-burst pattern"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080440"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 49) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27866705"^^xsd:string) "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617281"^^xsd:string) AnnotationAssertion( "DEE49"^^xsd:string) AnnotationAssertion( "EIEE49"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080441"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 49"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27476654"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617105"^^xsd:string) AnnotationAssertion( "DEE41"^^xsd:string) AnnotationAssertion( "EIEE41"^^xsd:string) AnnotationAssertion( "SLC1A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080442"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 41"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30525121/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24399846"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615833"^^xsd:string) AnnotationAssertion( "DEE21"^^xsd:string) AnnotationAssertion( "EIEE21"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080443"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 21"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24272827"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28377535"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "GRIN2B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616139"^^xsd:string) AnnotationAssertion( "DEE27"^^xsd:string) AnnotationAssertion( "EIEE27"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "developmental delay with intractable seizures"^^xsd:string) AnnotationAssertion( "DOID:0080444"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 27"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24888894/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22365152"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T16:31:06Z"^^xsd:string) AnnotationAssertion( "MIM:614558"^^xsd:string) AnnotationAssertion( "NCI:C188139"^^xsd:string) AnnotationAssertion( "DEE13"^^xsd:string) AnnotationAssertion( "EIEE13"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080445"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 66) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29656858"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618067"^^xsd:string) AnnotationAssertion( "NCI:C198576"^^xsd:string) AnnotationAssertion( "DEE66"^^xsd:string) AnnotationAssertion( "EIEE66"^^xsd:string) AnnotationAssertion( "PACS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080446"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 66"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 43) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27476654/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23934111"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617113"^^xsd:string) AnnotationAssertion( "DEE43"^^xsd:string) AnnotationAssertion( "EIEE43"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080447"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 43"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27889060"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617276"^^xsd:string) AnnotationAssertion( "DEE48"^^xsd:string) AnnotationAssertion( "EIEE48"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080448"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 48"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21087195"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23526554"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615338"^^xsd:string) AnnotationAssertion( "ORDO:352596"^^xsd:string) AnnotationAssertion( "DEE16"^^xsd:string) AnnotationAssertion( "EIEE16"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080449"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 16"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23993195"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "GNAO1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615473"^^xsd:string) AnnotationAssertion( "DEE17"^^xsd:string) AnnotationAssertion( "EIEE17"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080450"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 17"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25817015"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616339"^^xsd:string) AnnotationAssertion( "DEE29"^^xsd:string) AnnotationAssertion( "EIEE29"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080451"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 29"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25411445/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24456803"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616211"^^xsd:string) AnnotationAssertion( "MONDO:0014533"^^xsd:string) AnnotationAssertion( "NCI:C189273"^^xsd:string) AnnotationAssertion( "DEE28"^^xsd:string) AnnotationAssertion( "EIEE28"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080452"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 28"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27600704/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24995870"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "2015-12-09T11:46:39Z"^^xsd:string) AnnotationAssertion( "GARD:12901"^^xsd:string) AnnotationAssertion( "MIM:615905"^^xsd:string) AnnotationAssertion( "NCI:C168597"^^xsd:string) AnnotationAssertion( "DEE25"^^xsd:string) AnnotationAssertion( "EIEE25"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 25"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 25 with amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080453"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 25"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27476654"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617106"^^xsd:string) AnnotationAssertion( "NCI:C188142"^^xsd:string) AnnotationAssertion( "DEE42"^^xsd:string) AnnotationAssertion( "EIEE42"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080454"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 42"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 52) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19710327"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617350"^^xsd:string) AnnotationAssertion( "DEE52"^^xsd:string) AnnotationAssertion( "EIEE52"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080455"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 52"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30280376/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27616483"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617162"^^xsd:string) AnnotationAssertion( "NCI:C177545"^^xsd:string) AnnotationAssertion( "DEE46"^^xsd:string) AnnotationAssertion( "EIEE46"^^xsd:string) AnnotationAssertion( "GRIN2D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080456"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 46"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly, seizures, and developmental delay) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20118933"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23224214"^^xsd:string) "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613402"^^xsd:string) AnnotationAssertion( "DEE10"^^xsd:string) AnnotationAssertion( "EIEE10"^^xsd:string) AnnotationAssertion( "MCSZ"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 10"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080457"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly, seizures, and developmental delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26224535"^^xsd:string) "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616647"^^xsd:string) AnnotationAssertion( "ORDO:457375"^^xsd:string) AnnotationAssertion( "DEE35"^^xsd:string) AnnotationAssertion( "EIEE35"^^xsd:string) AnnotationAssertion( "ITPA-related encephalopathy"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080458"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 35"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22690784/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20833646"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613722"^^xsd:string) AnnotationAssertion( "DEE12"^^xsd:string) AnnotationAssertion( "EIEE12"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080459"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 12"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26333769"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616645"^^xsd:string) AnnotationAssertion( "DEE34"^^xsd:string) AnnotationAssertion( "EIEE34"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080460"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 34"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25164438"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12391"^^xsd:string) AnnotationAssertion( "MIM:616056"^^xsd:string) AnnotationAssertion( "NCI:C175047"^^xsd:string) AnnotationAssertion( "DEE26"^^xsd:string) AnnotationAssertion( "EIEE26"^^xsd:string) AnnotationAssertion( "KCNB1-related disorder"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 26"^^xsd:string) AnnotationAssertion( "epileptic encephalopathy-26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080461"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 26"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15249611"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "KCNQ2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613720"^^xsd:string) AnnotationAssertion( "NCI:C192087"^^xsd:string) AnnotationAssertion( "ORDO:439218"^^xsd:string) AnnotationAssertion( "DEE7"^^xsd:string) AnnotationAssertion( "EIEE7"^^xsd:string) AnnotationAssertion( "KCNQ2-related epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "KCNQ2-related neonatal epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 7"^^xsd:string) AnnotationAssertion( "continuous spike and waves during slow-wave sleep syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080462"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "MIM:616409"^^xsd:string) AnnotationAssertion( "DEE33"^^xsd:string) AnnotationAssertion( "EIEE33"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080463"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 33"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 53) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27435091"^^xsd:string) "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617389"^^xsd:string) AnnotationAssertion( "DEE53"^^xsd:string) AnnotationAssertion( "EIEE53"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080464"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 53"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25839329"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616341"^^xsd:string) AnnotationAssertion( "DEE30"^^xsd:string) AnnotationAssertion( "EIEE30"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080465"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 30"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (developmental and epileptic encephalopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15492925"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22872100"^^xsd:string) "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300672"^^xsd:string) AnnotationAssertion( "MESH:C564064"^^xsd:string) AnnotationAssertion( "NCI:C147070"^^xsd:string) AnnotationAssertion( "CDKL5 disorder"^^xsd:string) AnnotationAssertion( "CDKL5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEE2"^^xsd:string) AnnotationAssertion( "EIEE2"^^xsd:string) AnnotationAssertion( "ISSX2"^^xsd:string) AnnotationAssertion( "Rett syndrome, variant, with infantile spasms"^^xsd:string) AnnotationAssertion( "X-linked dominant infantile spasm syndrome-2"^^xsd:string) AnnotationAssertion( "X-linked infantile spasm syndrome 2"^^xsd:string) AnnotationAssertion( "atypical Rett Syndrome, CDKL5-related"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080467"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17668384/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11889467"^^xsd:string) "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:308350"^^xsd:string) AnnotationAssertion( "MESH:C567924"^^xsd:string) AnnotationAssertion( "NCI:C179866"^^xsd:string) AnnotationAssertion( "DEE1"^^xsd:string) AnnotationAssertion( "EIEE1"^^xsd:string) AnnotationAssertion( "ISSX1"^^xsd:string) AnnotationAssertion( "X-linked Ohtahara syndrome"^^xsd:string) AnnotationAssertion( "X-linked West syndrome"^^xsd:string) AnnotationAssertion( "X-linked infantile spasm syndrome"^^xsd:string) AnnotationAssertion( "X-linked infantile spasm syndrome, 1"^^xsd:string) AnnotationAssertion( "X-linked infantile spasms"^^xsd:string) AnnotationAssertion( "XMESID"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 1"^^xsd:string) AnnotationAssertion( "infantile epileptic-dyskinetic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080468"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (developmental and epileptic encephalopathy 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23033978"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26138355"^^xsd:string) "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12401"^^xsd:string) AnnotationAssertion( "MIM:300884"^^xsd:string) AnnotationAssertion( "NCI:C142803"^^xsd:string) AnnotationAssertion( "ORDO:324422"^^xsd:string) AnnotationAssertion( "DEE36"^^xsd:string) AnnotationAssertion( "EIEE36"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 36"^^xsd:string) AnnotationAssertion( "CDG Is"^^xsd:string) AnnotationAssertion( "CDG1S"^^xsd:string) AnnotationAssertion( "CDGIs"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1S"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Is"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080470"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 36"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 92) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25124326"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617829"^^xsd:string) AnnotationAssertion( "DEE92"^^xsd:string) AnnotationAssertion( "IECEE2"^^xsd:string) AnnotationAssertion( "infantile or early childhood epileptic encephalopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080471"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 92"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 91) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28942967"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "PPP3CA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617711"^^xsd:string) AnnotationAssertion( "DEE91"^^xsd:string) AnnotationAssertion( "IECEE1"^^xsd:string) AnnotationAssertion( "infantile or early childhood epileptic encephalopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080472"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 91"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental delay and seizures with or without movement abnormalities) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29100083"^^xsd:string) "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "DHDDS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617836"^^xsd:string) AnnotationAssertion( "DEDSM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080473"^^xsd:string) AnnotationAssertion(rdfs:label "developmental delay and seizures with or without movement abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pustular psoriasis 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21848462"^^xsd:string) "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614204"^^xsd:string) AnnotationAssertion( "NCI:C202121"^^xsd:string) AnnotationAssertion( "ORDO:404546"^^xsd:string) AnnotationAssertion( "DITRA"^^xsd:string) AnnotationAssertion( "GPP"^^xsd:string) AnnotationAssertion( "PSORP"^^xsd:string) AnnotationAssertion( "PSORS14"^^xsd:string) AnnotationAssertion( "acrodermatitis continua of Hallopeau"^^xsd:string) AnnotationAssertion( "acute generalised pustular psoriasis"^^xsd:string) AnnotationAssertion( "deficiency of IL-36R antagonist"^^xsd:string) AnnotationAssertion( "deficiency of the interleukin-36 receptor antagonist"^^xsd:string) AnnotationAssertion( "generalized pustular psoriasis"^^xsd:string) AnnotationAssertion( "generalized pustular psoriasis of von Zumbusch"^^xsd:string) AnnotationAssertion( "interleukin 36 receptor antagonist deficiency"^^xsd:string) AnnotationAssertion( "palmoplantar pustulosis"^^xsd:string) AnnotationAssertion( "von Zumbusch psoriasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080474"^^xsd:string) AnnotationAssertion(rdfs:label "pustular psoriasis 14"^^xsd:string) SubClassOf( ) # Class: (psoriasis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22521418"^^xsd:string) "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602723"^^xsd:string) AnnotationAssertion( "PSORS2"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 2"^^xsd:string) AnnotationAssertion( "PAPULOSQUAMOUS ERUPTIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080475"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 2"^^xsd:string) SubClassOf( ) # Class: (peroxisome biogenesis disorder 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214100"^^xsd:string) AnnotationAssertion( "NCI:C155748"^^xsd:string) AnnotationAssertion( "CG1"^^xsd:string) AnnotationAssertion( "CGE"^^xsd:string) AnnotationAssertion( "PBD1A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 1A (Zellweger)"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 1"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080476"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214110"^^xsd:string) AnnotationAssertion( "NCI:C155750"^^xsd:string) AnnotationAssertion( "PBD2A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 2A (Zellweger)"^^xsd:string) AnnotationAssertion( "CG2"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080477"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614859"^^xsd:string) AnnotationAssertion( "MESH:C566633"^^xsd:string) AnnotationAssertion( "NCI:C155752"^^xsd:string) AnnotationAssertion( "PBD3A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 3A (Zellweger)"^^xsd:string) AnnotationAssertion( "CG3"^^xsd:string) AnnotationAssertion( "PDB3A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080478"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614862"^^xsd:string) AnnotationAssertion( "MESH:C563301"^^xsd:string) AnnotationAssertion( "PBD4A"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 4"^^xsd:string) AnnotationAssertion( "CG4"^^xsd:string) AnnotationAssertion( "CG6"^^xsd:string) AnnotationAssertion( "CGC"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 6"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080479"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 5A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "CG5"^^xsd:string) AnnotationAssertion( "CGF"^^xsd:string) AnnotationAssertion( "PEX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 5"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group F"^^xsd:string) AnnotationAssertion( "MIM:614866"^^xsd:string) AnnotationAssertion( "PBD5A"^^xsd:string) AnnotationAssertion( "Peroxisome Biogenesis Disorder 5A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080480"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 5A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 6A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614870"^^xsd:string) AnnotationAssertion( "MONDO:0013936"^^xsd:string) AnnotationAssertion( "PBD6A"^^xsd:string) AnnotationAssertion( "Peroxisome Biogenesis Disorder 6A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080481"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 6A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 7A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614872"^^xsd:string) AnnotationAssertion( "NCI:C155760"^^xsd:string) AnnotationAssertion( "PBD7A"^^xsd:string) AnnotationAssertion( "Peroxisome Biogenesis Disorder 7A (Zellweger)"^^xsd:string) AnnotationAssertion( "CG8"^^xsd:string) AnnotationAssertion( "CGA"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 8"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080482"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 7A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 8A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT"^^xsd:string) AnnotationAssertion( "MIM:614876"^^xsd:string) AnnotationAssertion( "NCI:C155762"^^xsd:string) AnnotationAssertion( "PBD8A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 8A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080483"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 8A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 10A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. (DO)"^^xsd:string) AnnotationAssertion( "PEX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614882"^^xsd:string) AnnotationAssertion( "MONDO:0013948"^^xsd:string) AnnotationAssertion( "PBD10A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 10A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080484"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 10A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 11A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614883"^^xsd:string) AnnotationAssertion( "PBD11A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 11A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080485"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 11A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 12A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614886"^^xsd:string) AnnotationAssertion( "PBD12A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 12A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080486"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 12A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 13A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055079"^^xsd:string) "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614887"^^xsd:string) AnnotationAssertion( "PBD13A"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 13A (Zellweger)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080487"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 13A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucolipidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mucolipidosis"^^xsd:string) Annotation( "https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucolipidoses-Fact-Sheet"^^xsd:string) "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009081"^^xsd:string) AnnotationAssertion( "MIM:PS256550"^^xsd:string) AnnotationAssertion( "mucolipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080488"^^xsd:string) AnnotationAssertion(rdfs:label "mucolipidosis"^^xsd:string) SubClassOf( ) # Class: (GM1 gangliosidosis type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/404231"^^xsd:string) "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2431"^^xsd:string) AnnotationAssertion( "MIM:230650"^^xsd:string) AnnotationAssertion( "MONDO:0009262"^^xsd:string) AnnotationAssertion( "ORDO:79257"^^xsd:string) AnnotationAssertion( "GM1-gangliosidoses type III"^^xsd:string) AnnotationAssertion( "GM1-gangliosidosis type III"^^xsd:string) AnnotationAssertion( "GM1G3"^^xsd:string) AnnotationAssertion( "Gangliosidosis, Generalized GM1, Adult Type"^^xsd:string) AnnotationAssertion( "Gangliosidosis, Generalized GM1, Chronic Type"^^xsd:string) AnnotationAssertion( "Gangliosidosis, Generalized GM1, Type 3"^^xsd:string) AnnotationAssertion( "Gangliosidosis, Generalized GM1, Type III"^^xsd:string) AnnotationAssertion( "Type 3 (Adult) GM1 Gangliosidosis"^^xsd:string) AnnotationAssertion( "adult GM1 gangliosidosis"^^xsd:string) AnnotationAssertion( "adult-onset GM1 gangliosidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080489"^^xsd:string) AnnotationAssertion(rdfs:label "GM1 gangliosidosis type 3"^^xsd:string) SubClassOf( ) # Class: (mucolipidosis type IV) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mucolipidosis_type_IV"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv"^^xsd:string) "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)"^^xsd:string) AnnotationAssertion( "GARD:94"^^xsd:string) AnnotationAssertion( "MIM:252650"^^xsd:string) AnnotationAssertion( "NCI:C84896"^^xsd:string) AnnotationAssertion( "ORDO:578"^^xsd:string) AnnotationAssertion( "ML IV"^^xsd:string) AnnotationAssertion( "ML4"^^xsd:string) AnnotationAssertion( "Mucolipidosis IV"^^xsd:string) AnnotationAssertion( "mucolipidosis type 4"^^xsd:string) AnnotationAssertion( "type IV mucolipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080490"^^xsd:string) AnnotationAssertion(rdfs:label "mucolipidosis type IV"^^xsd:string) SubClassOf( ) # Class: (cerebral cavernous malformation 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/116860?search=116860&highlight=116860"^^xsd:string) "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116860"^^xsd:string) AnnotationAssertion( "CCM1"^^xsd:string) AnnotationAssertion( "KRIT1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080491"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral cavernous malformation 1"^^xsd:string) SubClassOf( ) # Class: (leukocyte adhesion deficiency 2) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string) "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. (DO)"^^xsd:string) AnnotationAssertion( "LAD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080492"^^xsd:string) AnnotationAssertion(rdfs:comment "Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases."^^xsd:string) AnnotationAssertion(rdfs:label "leukocyte adhesion deficiency 2"^^xsd:string) SubClassOf( ) # Class: (ovarian dysgenesis 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/233300"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:233300"^^xsd:string) AnnotationAssertion( "ODG1"^^xsd:string) AnnotationAssertion( "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE"^^xsd:string) AnnotationAssertion( "Ovarian Dysgenesis I"^^xsd:string) AnnotationAssertion( "hypergonadotropic ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080493"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/300510"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300510"^^xsd:string) AnnotationAssertion( "MESH:C564499"^^xsd:string) AnnotationAssertion( "ODG2"^^xsd:string) AnnotationAssertion( "hypergonadotropic ovarian dysgenesis, X-linked"^^xsd:string) AnnotationAssertion( "hypergonadotropic ovarian failure due to ovarian dysgenesis"^^xsd:string) AnnotationAssertion( "POF4"^^xsd:string) AnnotationAssertion( "premature ovarian failure 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080494"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/614324"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614324"^^xsd:string) AnnotationAssertion( "ODG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080495"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616185"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616185"^^xsd:string) AnnotationAssertion( "ODG4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080496"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617690"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617690"^^xsd:string) AnnotationAssertion( "ODG5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080497"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 6) AnnotationAssertion(Annotation( "https://www.omim.org/entry/618078"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618078"^^xsd:string) AnnotationAssertion( "ODG6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080498"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 7) AnnotationAssertion(Annotation( "https://www.omim.org/entry/618117"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618117"^^xsd:string) AnnotationAssertion( "ODG7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080499"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysgenesis 8) AnnotationAssertion(Annotation( "https://www.omim.org/entry/618187"^^xsd:string) "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618187"^^xsd:string) AnnotationAssertion( "ODG8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080500"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysgenesis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GM1 gangliosidosis type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12644936"^^xsd:string) "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. (DO)"^^xsd:string) AnnotationAssertion( "MIM:230600"^^xsd:string) AnnotationAssertion( "MESH:C566893"^^xsd:string) AnnotationAssertion( "GM1-gangliosidoses, type II"^^xsd:string) AnnotationAssertion( "GM1-gangliosidosis, type II"^^xsd:string) AnnotationAssertion( "GM1G2"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, juvenile type"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, late-infantile type"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, type 2"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, type II"^^xsd:string) AnnotationAssertion( "juvenile GM1 gangliosidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080501"^^xsd:string) AnnotationAssertion(rdfs:label "GM1 gangliosidosis type 2"^^xsd:string) SubClassOf( ) # Class: (GM1 gangliosidosis type 1) AnnotationAssertion(Annotation( "https://omim.org/entry/230500"^^xsd:string) "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. (DO)"^^xsd:string) AnnotationAssertion( "MIM:230500"^^xsd:string) AnnotationAssertion( "GARD:6479"^^xsd:string) AnnotationAssertion( "MESH:C566895"^^xsd:string) AnnotationAssertion( "ORDO:79255"^^xsd:string) AnnotationAssertion( "GM1-gangliosidoses type I"^^xsd:string) AnnotationAssertion( "GM1-gangliosidosis type I"^^xsd:string) AnnotationAssertion( "GM1G1"^^xsd:string) AnnotationAssertion( "Infantile Gangliosidosis GM1"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, infantile form"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, type 1"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, type I"^^xsd:string) AnnotationAssertion( "GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT"^^xsd:string) AnnotationAssertion( "generalized GM1 gangliosidosis, type I, with cardiac involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Gm1 Gangliosidosis, Type I, with Cardiac Involvement"^^xsd:string) AnnotationAssertion( "DOID:0080502"^^xsd:string) AnnotationAssertion(rdfs:label "GM1 gangliosidosis type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple congenital anomalies-hypotonia-seizures syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29974678"^^xsd:string) "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12781"^^xsd:string) AnnotationAssertion( "MIM:PS614080"^^xsd:string) AnnotationAssertion( "ORDO:280633"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080503"^^xsd:string) AnnotationAssertion(rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30496485"^^xsd:string) Annotation( "https://www.omim.org/entry/616710"^^xsd:string) "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000403"^^xsd:string) AnnotationAssertion( "MIM:616710"^^xsd:string) AnnotationAssertion( "PARK22"^^xsd:string) AnnotationAssertion( "Parkinson disease 22, autosomal dominant"^^xsd:string) AnnotationAssertion( "autosomal dominant Parkinson's disease 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080504"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornelia de Lange syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20583156"^^xsd:string) "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:122470"^^xsd:string) AnnotationAssertion( "CDLS1"^^xsd:string) AnnotationAssertion( "NIPBL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080505"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornelia de Lange syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22106055"^^xsd:string) "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "Cornelia de Lange syndrome, X-linked"^^xsd:string) AnnotationAssertion( "SMC1A-RELATED COHESINOPATHY"^^xsd:string) AnnotationAssertion( "X-linked CDLS"^^xsd:string) AnnotationAssertion( "MIM:300590"^^xsd:string) AnnotationAssertion( "CDLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONGENITAL MUSCULAR HYPERTROPHY-CEREBRAL SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:0080506"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornelia de Lange syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25655089"^^xsd:string) "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610759"^^xsd:string) AnnotationAssertion( "MONDO:0012555"^^xsd:string) AnnotationAssertion( "CDLS3"^^xsd:string) AnnotationAssertion( "Cornelia De Lange syndrome 3 with or without midline brain defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080507"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornelia de Lange syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22633399"^^xsd:string) "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "RAD21-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614701"^^xsd:string) AnnotationAssertion( "CDLS4"^^xsd:string) AnnotationAssertion( "Cornelia de Lange syndrome 4 with or without midline brain defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080508"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornelia de Lange syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22889856"^^xsd:string) "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300882"^^xsd:string) AnnotationAssertion( "CDLS5"^^xsd:string) AnnotationAssertion( "HDAC8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080509"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex localized type) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources"^^xsd:string) "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "Acral Form EBS"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa of Hands and Feet"^^xsd:string) AnnotationAssertion( "Weber Cockayne Syndrome"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex Weber-Cockayne type"^^xsd:string) AnnotationAssertion( "localized epidermolysis bullosa simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080510"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex localized type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex generalized type) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources"^^xsd:string) "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)"^^xsd:string) AnnotationAssertion( "Generalized EBS"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex Koebner type"^^xsd:string) AnnotationAssertion( "generalized epidermolysis bullosa simplex"^^xsd:string) AnnotationAssertion( "generalized epidermolysis bullosa simplex with severe palmoplantar keratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080511"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex generalized type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/224690"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224690"^^xsd:string) AnnotationAssertion( "MGORS1"^^xsd:string) AnnotationAssertion( "ORC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080512"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613800"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613800"^^xsd:string) AnnotationAssertion( "MGORS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080513"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613803"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613803"^^xsd:string) AnnotationAssertion( "MGORS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080514"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 4) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613804"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613804"^^xsd:string) AnnotationAssertion( "MGORS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080515"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 5) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613805"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613805"^^xsd:string) AnnotationAssertion( "MGORS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080516"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 6) AnnotationAssertion(Annotation( "https://www.omim.org/entry/616835"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616835"^^xsd:string) AnnotationAssertion( "MGORS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080517"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meier-Gorlin syndrome 7) AnnotationAssertion(Annotation( "https://www.omim.org/entry/617063"^^xsd:string) "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617063"^^xsd:string) AnnotationAssertion( "MONDO:0014894"^^xsd:string) AnnotationAssertion( "MGORS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080518"^^xsd:string) AnnotationAssertion(rdfs:label "Meier-Gorlin syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (PAPA syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/PAPA_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28236224"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28251506"^^xsd:string) Annotation( "https://www.nomidalliance.org/papa.php"^^xsd:string) "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604416"^^xsd:string) AnnotationAssertion( "MESH:C536253"^^xsd:string) AnnotationAssertion( "ORDO:69126"^^xsd:string) AnnotationAssertion( "FRA"^^xsd:string) AnnotationAssertion( "PAPAS"^^xsd:string) AnnotationAssertion( "familial recurrent arthritis"^^xsd:string) AnnotationAssertion( "pyogenic arthritis, pyoderma gangrenosum, and acne"^^xsd:string) AnnotationAssertion( "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne"^^xsd:string) AnnotationAssertion( "pyogenic sterile arthritis, pyoderma gangrenosum, and acne"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080519"^^xsd:string) AnnotationAssertion(rdfs:label "PAPA syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tn polyagglutination syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16251947"^^xsd:string) "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000181"^^xsd:string) AnnotationAssertion( "MIM:300622"^^xsd:string) AnnotationAssertion( "MESH:C562719"^^xsd:string) AnnotationAssertion( "Galactosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "TNPS"^^xsd:string) AnnotationAssertion( "Tn Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080520"^^xsd:string) AnnotationAssertion(rdfs:label "Tn polyagglutination syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lung non-squamous non-small cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30362335"^^xsd:string) "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C135017"^^xsd:string) AnnotationAssertion( "non- squamous NSCLC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080521"^^xsd:string) AnnotationAssertion(rdfs:label "lung non-squamous non-small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (anaplastic thyroid carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28707679"^^xsd:string) "A thyroid gland carcinoma that is composed of undifferentiated cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000595"^^xsd:string) AnnotationAssertion( "MESH:D065646"^^xsd:string) AnnotationAssertion( "MONDO:0006468"^^xsd:string) AnnotationAssertion( "NCI:C3878"^^xsd:string) AnnotationAssertion( "NCI:C664"^^xsd:string) AnnotationAssertion( "anaplastic thyroid cancer"^^xsd:string) AnnotationAssertion( "anaplastic thyroid cancers"^^xsd:string) AnnotationAssertion( "anaplastic thyroid carcinomas"^^xsd:string) AnnotationAssertion( "thyroid gland anaplastic carcinoma"^^xsd:string) AnnotationAssertion( "thyroid gland undifferentiated (anaplastic) carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080522"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (adult-onset leukoencephalopathy with axonal spheroids and pigmented glia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27680516"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28921817"^^xsd:string) "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:221820"^^xsd:string) AnnotationAssertion( "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "CSF1R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10981"^^xsd:string) AnnotationAssertion( "MESH:C580150"^^xsd:string) AnnotationAssertion( "NCI:C153289"^^xsd:string) AnnotationAssertion( "ORDO:313808"^^xsd:string) AnnotationAssertion( "ALSP"^^xsd:string) AnnotationAssertion( "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL"^^xsd:string) AnnotationAssertion( "GPSC"^^xsd:string) AnnotationAssertion( "HDLS"^^xsd:string) AnnotationAssertion( "HDLS1"^^xsd:string) AnnotationAssertion( "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA"^^xsd:string) AnnotationAssertion( "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1"^^xsd:string) AnnotationAssertion( "Leukoencephalopathy, diffuse hereditary, with spheroids 1"^^xsd:string) AnnotationAssertion( "adult-onset leukodystrophy with neuroaxonal spheroids"^^xsd:string) AnnotationAssertion( "autosomal dominant leukoencephalopathy with neuroaxonal spheroids"^^xsd:string) AnnotationAssertion( "familial dementia, Neumann type"^^xsd:string) AnnotationAssertion( "familial progressive subcortical gliosis"^^xsd:string) AnnotationAssertion( "hereditary diffuse leukoencephalopathy with axonal spheroids"^^xsd:string) AnnotationAssertion( "hereditary diffuse leukoencephalopathy with spheroids"^^xsd:string) AnnotationAssertion( "hereditary diffuse leukoencephalopathy with spheroids 1"^^xsd:string) AnnotationAssertion( "neuroaxonal leukodystrophy"^^xsd:string) AnnotationAssertion( "subcortical gliosis of Neumann"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080523"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thyroid gland adenocarcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string) "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27380"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080524"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (differentiated high-grade thyroid carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit"^^xsd:string) "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002017"^^xsd:string) AnnotationAssertion( "NCI:C7153"^^xsd:string) AnnotationAssertion( "differentiated thyroid gland carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080525"^^xsd:string) AnnotationAssertion(rdfs:label "differentiated high-grade thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (bronchiectasis 1) AnnotationAssertion(Annotation( "https://www.omim.org/entry/211400"^^xsd:string) "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211400"^^xsd:string) AnnotationAssertion( "MESH:C567618"^^xsd:string) AnnotationAssertion( "BESC1"^^xsd:string) AnnotationAssertion( "bronchiectasis with or without elevated sweat chloride 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF"^^xsd:string) AnnotationAssertion( "HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0080526"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiectasis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchiectasis 2) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613021"^^xsd:string) "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613021"^^xsd:string) AnnotationAssertion( "MESH:C567813"^^xsd:string) AnnotationAssertion( "BESC2"^^xsd:string) AnnotationAssertion( "Bronchiectasis with or without Elevated Sweat Chloride 2"^^xsd:string) AnnotationAssertion( "IDIOPATHIC BRONCHIECTASIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080527"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiectasis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchiectasis 3) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613071"^^xsd:string) "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613071"^^xsd:string) AnnotationAssertion( "MESH:C567772"^^xsd:string) AnnotationAssertion( "BESC3"^^xsd:string) AnnotationAssertion( "bronchiectasis with or without elevated sweat chloride 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080528"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiectasis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granular corneal dystrophy 1) AnnotationAssertion(Annotation( "https://omim.org/entry/121900?search=121900&highlight=121900"^^xsd:string) "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121900"^^xsd:string) AnnotationAssertion( "MESH:C537304"^^xsd:string) AnnotationAssertion( "CDGG1"^^xsd:string) AnnotationAssertion( "Corneal dystrophy punctate or nodular"^^xsd:string) AnnotationAssertion( "GCD1"^^xsd:string) AnnotationAssertion( "Granular Corneal Dystrophy, Type I"^^xsd:string) AnnotationAssertion( "Groenouw type I corneal dystrophy"^^xsd:string) AnnotationAssertion( "corneal dystrophy granular type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080530"^^xsd:string) AnnotationAssertion(rdfs:label "granular corneal dystrophy 1"^^xsd:string) SubClassOf( ) # Class: (dedifferentiated liposarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26645460"^^xsd:string) "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003085"^^xsd:string) AnnotationAssertion( "ICDO:8858/3"^^xsd:string) AnnotationAssertion( "NCI:C3704"^^xsd:string) AnnotationAssertion( "ORDO:99970"^^xsd:string) AnnotationAssertion( "dedifferentiated liposarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080531"^^xsd:string) AnnotationAssertion(rdfs:label "dedifferentiated liposarcoma"^^xsd:string) SubClassOf( ) # Class: (Smarca4-deficient sarcoma of thorax) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/SMARCA4#conditions"^^xsd:string) Annotation( "https://www.nature.com/articles/modpathol201761.pdf?origin=ppub"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26343384"^^xsd:string) "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). (DO)"^^xsd:string) AnnotationAssertion( "ORDO:466962"^^xsd:string) AnnotationAssertion( "SMARCA4-DTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080532"^^xsd:string) AnnotationAssertion(rdfs:label "Smarca4-deficient sarcoma of thorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Carney-Stratakis syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10643/index"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31174229"^^xsd:string) "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606864"^^xsd:string) AnnotationAssertion( "GARD:10643"^^xsd:string) AnnotationAssertion( "MESH:C564650"^^xsd:string) AnnotationAssertion( "ORDO:97286"^^xsd:string) AnnotationAssertion( "GIST"^^xsd:string) AnnotationAssertion( "paraganglioma and gastric stromal sarcoma"^^xsd:string) AnnotationAssertion( "paraganglioma and gastrointestinal stromal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080533"^^xsd:string) AnnotationAssertion(rdfs:label "Carney-Stratakis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myxofibrosarcoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27591498"^^xsd:string) "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000328"^^xsd:string) AnnotationAssertion( "ICDO:8811/3"^^xsd:string) AnnotationAssertion( "NCI:C6496"^^xsd:string) AnnotationAssertion( "ORDO:79105"^^xsd:string) AnnotationAssertion( "fibromyxoid sarcoma"^^xsd:string) AnnotationAssertion( "LOW GRADE FIBROMYXOID SARCOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080534"^^xsd:string) AnnotationAssertion(rdfs:label "myxofibrosarcoma"^^xsd:string) SubClassOf( ) # Class: (hypermanganesemia with dystonia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources"^^xsd:string) "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS613280"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080535"^^xsd:string) AnnotationAssertion(rdfs:label "hypermanganesemia with dystonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypermanganesemia with dystonia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22341972"^^xsd:string) "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003227"^^xsd:string) AnnotationAssertion( "MESH:C548016"^^xsd:string) AnnotationAssertion( "MIM:613280"^^xsd:string) AnnotationAssertion( "HMDPC"^^xsd:string) AnnotationAssertion( "HMNDYT1"^^xsd:string) AnnotationAssertion( "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia"^^xsd:string) AnnotationAssertion( "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia"^^xsd:string) AnnotationAssertion( "Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis"^^xsd:string) AnnotationAssertion( "dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease"^^xsd:string) AnnotationAssertion( "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080536"^^xsd:string) AnnotationAssertion(rdfs:label "hypermanganesemia with dystonia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypermanganesemia with dystonia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27231142"^^xsd:string) "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "SLC39A14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617013"^^xsd:string) AnnotationAssertion( "HMNDYT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080537"^^xsd:string) AnnotationAssertion(rdfs:label "hypermanganesemia with dystonia 2"^^xsd:string) SubClassOf( ) # Class: (Sweeney-Cox syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28369379"^^xsd:string) "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617746"^^xsd:string) AnnotationAssertion( "SWCOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080538"^^xsd:string) AnnotationAssertion(rdfs:label "Sweeney-Cox syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PEHO syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/PEHO_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28335020"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30385166"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31048081"^^xsd:string) "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260565"^^xsd:string) AnnotationAssertion( "GARD:4264"^^xsd:string) AnnotationAssertion( "MESH:C536317"^^xsd:string) AnnotationAssertion( "ORDO:2836"^^xsd:string) AnnotationAssertion( "PEHO"^^xsd:string) AnnotationAssertion( "PEHO-Like Syndrome"^^xsd:string) AnnotationAssertion( "infantile cerebellooptic atrophy"^^xsd:string) AnnotationAssertion( "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080539"^^xsd:string) AnnotationAssertion(rdfs:label "PEHO syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (galactosialidosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/galactosialidosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28603679"^^xsd:string) "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256540"^^xsd:string) AnnotationAssertion( "GARD:3953"^^xsd:string) AnnotationAssertion( "MESH:C536411"^^xsd:string) AnnotationAssertion( "NCI:C129928"^^xsd:string) AnnotationAssertion( "ORDO:351"^^xsd:string) AnnotationAssertion( "COMBINED DEFICIENCY OF SIALIDASE AND BETA GALACTOSIDASE"^^xsd:string) AnnotationAssertion( "GSL"^^xsd:string) AnnotationAssertion( "Goldberg syndrome"^^xsd:string) AnnotationAssertion( "Lysosomal Protective Protein Deficiency"^^xsd:string) AnnotationAssertion( "Lysosomal protective protein, deficiency of"^^xsd:string) AnnotationAssertion( "NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION"^^xsd:string) AnnotationAssertion( "NGBE"^^xsd:string) AnnotationAssertion( "PPCA deficiency"^^xsd:string) AnnotationAssertion( "cathepsin A deficiency"^^xsd:string) AnnotationAssertion( "deficiency of cathepsin A"^^xsd:string) AnnotationAssertion( "neuraminidase deficiency with beta-galactosidase deficiency"^^xsd:string) AnnotationAssertion( "protective protein-cathepsin A deficiency"^^xsd:string) AnnotationAssertion( "Galactosialidosis, Adult"^^xsd:string) AnnotationAssertion( "Galactosialidosis, Late Infantile"^^xsd:string) AnnotationAssertion( "Galactosialidosis, early Infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080540"^^xsd:string) AnnotationAssertion(rdfs:label "galactosialidosis"^^xsd:string) SubClassOf( ) # Class: (hyperprolinemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hyperprolinemia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string) "An amno acid metabolic disorder that is characterized by the excess of proline in the blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2847"^^xsd:string) AnnotationAssertion( "hyperprolinemias"^^xsd:string) AnnotationAssertion( "prolinemia"^^xsd:string) AnnotationAssertion( "prolinuria"^^xsd:string) AnnotationAssertion( "pyrroline carboxylate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080541"^^xsd:string) AnnotationAssertion(rdfs:label "hyperprolinemia"^^xsd:string) SubClassOf( ) # Class: (hyperprolinemia type 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string) "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:239500"^^xsd:string) AnnotationAssertion( "ORDO:419"^^xsd:string) AnnotationAssertion( "HPI"^^xsd:string) AnnotationAssertion( "HYRPRO1"^^xsd:string) AnnotationAssertion( "Hyperprolinemia Type I"^^xsd:string) AnnotationAssertion( "proline dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "proline hydrogenase deficiency"^^xsd:string) AnnotationAssertion( "proline oxidase deficiency"^^xsd:string) AnnotationAssertion( "pyrroline-5-carboxylate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080542"^^xsd:string) AnnotationAssertion(rdfs:label "hyperprolinemia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperprolinemia type 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hyperprolinemia"^^xsd:string) "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:239510"^^xsd:string) AnnotationAssertion( "MESH:C538385"^^xsd:string) AnnotationAssertion( "ORDO:79101"^^xsd:string) AnnotationAssertion( "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "1-pyrroline-5-carboxylate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "HPII"^^xsd:string) AnnotationAssertion( "HYRPRO2"^^xsd:string) AnnotationAssertion( "deficiency of pyrroline-5-carboxylate reductase"^^xsd:string) AnnotationAssertion( "hyperprolinemia type II"^^xsd:string) AnnotationAssertion( "pyrroline-5-carboxylate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080543"^^xsd:string) AnnotationAssertion(rdfs:label "hyperprolinemia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyper IgM syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/hyper-igm-syndrome/"^^xsd:string) Annotation( "https://www.niaid.nih.gov/diseases-conditions/types-pidds"^^xsd:string) "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D80.5"^^xsd:string) AnnotationAssertion( "MESH:D053306"^^xsd:string) AnnotationAssertion( "MIM:PS308230"^^xsd:string) AnnotationAssertion( "NCI:C84783"^^xsd:string) AnnotationAssertion( "HIGM"^^xsd:string) AnnotationAssertion( "hyper-IgM immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "hyper-IgM immunodeficiency syndromes"^^xsd:string) AnnotationAssertion( "hyper-IgM syndromes"^^xsd:string) AnnotationAssertion( "immunodeficiency with hyper-IgM"^^xsd:string) AnnotationAssertion( "immunodeficiency with hyper-IgM syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080544"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgM syndrome"^^xsd:string) SubClassOf( ) # Class: (hyper IgE syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms"^^xsd:string) "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10956"^^xsd:string) AnnotationAssertion( "MESH:D007589"^^xsd:string) AnnotationAssertion( "MIM:PS147060"^^xsd:string) AnnotationAssertion( "NCI:C3144"^^xsd:string) AnnotationAssertion( "HIE Syndrome"^^xsd:string) AnnotationAssertion( "HIE syndromes"^^xsd:string) AnnotationAssertion( "Hyper-IgE Syndromes"^^xsd:string) AnnotationAssertion( "Hyperimmunoglobulinemia E Syndrome"^^xsd:string) AnnotationAssertion( "Hyperimmunoglobulinemia E Syndromes"^^xsd:string) AnnotationAssertion( "hyper immunoglobulin E syndrome"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulin E recurrent infection syndrome"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulin E syndrome"^^xsd:string) AnnotationAssertion( "Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Hyper IgE Syndrome, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive HIES"^^xsd:string) AnnotationAssertion( "hyper immunoglobulin E syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080545"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgE syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-alcoholic fatty liver) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/"^^xsd:string) "A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001248"^^xsd:string) AnnotationAssertion( "NAFL"^^xsd:string) AnnotationAssertion( "nonalcoholic fatty liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080546"^^xsd:string) AnnotationAssertion(rdfs:label "non-alcoholic fatty liver"^^xsd:string) SubClassOf( ) # Class: (metabolic dysfunction-associated steatohepatitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37364816/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash"^^xsd:string) "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001249"^^xsd:string) AnnotationAssertion( "MASH"^^xsd:string) AnnotationAssertion( "NASH"^^xsd:string) AnnotationAssertion( "non-alcoholic steatohepatitis"^^xsd:string) AnnotationAssertion( "nonalcoholic steatohepatitides"^^xsd:string) AnnotationAssertion( "nonalcoholic steatohepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080547"^^xsd:string) AnnotationAssertion(rdfs:label "metabolic dysfunction-associated steatohepatitis"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome with multiple lentigines 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes"^^xsd:string) "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:151100"^^xsd:string) AnnotationAssertion( "LEOPARD syndrome 1"^^xsd:string) AnnotationAssertion( "LPRD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080548"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome with multiple lentigines 1"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome with multiple lentigines 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17603483"^^xsd:string) "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537117"^^xsd:string) AnnotationAssertion( "MIM:611554"^^xsd:string) AnnotationAssertion( "MONDO:0012691"^^xsd:string) AnnotationAssertion( "LEOPARD syndrome 2"^^xsd:string) AnnotationAssertion( "LPRD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080549"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome with multiple lentigines 2"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome with multiple lentigines 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string) "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613707"^^xsd:string) AnnotationAssertion( "MONDO:0013380"^^xsd:string) AnnotationAssertion( "LEOPARD syndrome 3"^^xsd:string) AnnotationAssertion( "LPRD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080550"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome with multiple lentigines 3"^^xsd:string) SubClassOf( ) # Class: (Naxos disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9795/disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29747658"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601214"^^xsd:string) AnnotationAssertion( "GARD:9795"^^xsd:string) AnnotationAssertion( "MESH:C538346"^^xsd:string) AnnotationAssertion( "ORDO:34217"^^xsd:string) AnnotationAssertion( "Mal de Naxos"^^xsd:string) AnnotationAssertion( "NXD"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris with arrhythmogenic cardiomyopathy"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair"^^xsd:string) AnnotationAssertion( "woolly hair, palmoplantar keratoderma, and cardiac abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080551"^^xsd:string) AnnotationAssertion(rdfs:label "Naxos disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9826"^^xsd:string) AnnotationAssertion( "MESH:C535739"^^xsd:string) AnnotationAssertion( "MIM:212065"^^xsd:string) AnnotationAssertion( "MONDO:0008907"^^xsd:string) AnnotationAssertion( "NCI:C126868"^^xsd:string) AnnotationAssertion( "ORDO:79318"^^xsd:string) AnnotationAssertion( "CDG Ia"^^xsd:string) AnnotationAssertion( "CDG1A"^^xsd:string) AnnotationAssertion( "CDGIa"^^xsd:string) AnnotationAssertion( "Jaeken syndrome"^^xsd:string) AnnotationAssertion( "PMM2-CDG"^^xsd:string) AnnotationAssertion( "PMM2-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome type 1A"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome type Ia"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1a"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1A"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Ia"^^xsd:string) AnnotationAssertion( "phosphomannomutase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080552"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Iaa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25066056"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T16:45:06Z"^^xsd:string) AnnotationAssertion( "RDO:9001414"^^xsd:string) AnnotationAssertion( "MIM:617082"^^xsd:string) AnnotationAssertion( "CDG1AA"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1aa"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1AA"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Iaa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080553"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Iaa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ib) AnnotationAssertion(Annotation( "https://www.omim.org/entry/602579"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602579"^^xsd:string) AnnotationAssertion( "RDO:0001029"^^xsd:string) AnnotationAssertion( "GARD:9830"^^xsd:string) AnnotationAssertion( "MESH:C535740"^^xsd:string) AnnotationAssertion( "ORDO:79319"^^xsd:string) AnnotationAssertion( "CDG Ib"^^xsd:string) AnnotationAssertion( "CDG, GASTROINTESTINAL TYPE"^^xsd:string) AnnotationAssertion( "CDG1B"^^xsd:string) AnnotationAssertion( "CDGIb"^^xsd:string) AnnotationAssertion( "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib"^^xsd:string) AnnotationAssertion( "Congenital Disorder of Glycosylation Type 1B"^^xsd:string) AnnotationAssertion( "MPI DEFICIENCY"^^xsd:string) AnnotationAssertion( "Mannosephosphate isomerase deficiency"^^xsd:string) AnnotationAssertion( "Protein-losing enteropathy-hepatic fibrosis syndrome"^^xsd:string) AnnotationAssertion( "SLSJ syndrome"^^xsd:string) AnnotationAssertion( "Saguenay-Lac Saint-Jean syndrome"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome type 1B"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1b"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080554"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ib"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ic) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16007612"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603147"^^xsd:string) AnnotationAssertion( "GARD:9829"^^xsd:string) AnnotationAssertion( "MESH:C535741"^^xsd:string) AnnotationAssertion( "NCI:C126869"^^xsd:string) AnnotationAssertion( "ORDO:79320"^^xsd:string) AnnotationAssertion( "CDG Ic"^^xsd:string) AnnotationAssertion( "CDG1C"^^xsd:string) AnnotationAssertion( "CDGIc"^^xsd:string) AnnotationAssertion( "CDGS5"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome type V"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1c"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1C"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Ic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080555"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Id) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601110"^^xsd:string) AnnotationAssertion( "GARD:9827"^^xsd:string) AnnotationAssertion( "MESH:C535742"^^xsd:string) AnnotationAssertion( "NCI:C126870"^^xsd:string) AnnotationAssertion( "ORDO:79321"^^xsd:string) AnnotationAssertion( "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV"^^xsd:string) AnnotationAssertion( "CDG Id"^^xsd:string) AnnotationAssertion( "CDG1D"^^xsd:string) AnnotationAssertion( "CDGId"^^xsd:string) AnnotationAssertion( "CDGS, TYPE IV"^^xsd:string) AnnotationAssertion( "CDGS4"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome, type 4"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1d"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1D"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type ID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080556"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Id"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ie) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23856421"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608799"^^xsd:string) AnnotationAssertion( "RDO:0001032"^^xsd:string) AnnotationAssertion( "GARD:9831"^^xsd:string) AnnotationAssertion( "MESH:C535743"^^xsd:string) AnnotationAssertion( "NCI:C126871"^^xsd:string) AnnotationAssertion( "ORDO:79322"^^xsd:string) AnnotationAssertion( "CDG Ie"^^xsd:string) AnnotationAssertion( "CDG1E"^^xsd:string) AnnotationAssertion( "CDGIe"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1e"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1E"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080557"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ie"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation If) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11733556"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609180"^^xsd:string) AnnotationAssertion( "RDO:0001033"^^xsd:string) AnnotationAssertion( "GARD:9832"^^xsd:string) AnnotationAssertion( "MESH:C535744"^^xsd:string) AnnotationAssertion( "NCI:C126872"^^xsd:string) AnnotationAssertion( "ORDO:79323"^^xsd:string) AnnotationAssertion( "CDG If"^^xsd:string) AnnotationAssertion( "CDG1F"^^xsd:string) AnnotationAssertion( "CDGIf"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1f"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1F"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080558"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation If"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ig) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17506107"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607143"^^xsd:string) AnnotationAssertion( "GARD:9833"^^xsd:string) AnnotationAssertion( "MESH:C535745"^^xsd:string) AnnotationAssertion( "NCI:C126873"^^xsd:string) AnnotationAssertion( "ORDO:79324"^^xsd:string) AnnotationAssertion( "ALG12-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "CDG Ig"^^xsd:string) AnnotationAssertion( "CDG1G"^^xsd:string) AnnotationAssertion( "CDGIg"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1g"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1G"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080559"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ig"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ih) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608104"^^xsd:string) AnnotationAssertion( "GARD:9834"^^xsd:string) AnnotationAssertion( "MESH:C535746"^^xsd:string) AnnotationAssertion( "ORDO:79325"^^xsd:string) AnnotationAssertion( "CDG IH"^^xsd:string) AnnotationAssertion( "CDG1H"^^xsd:string) AnnotationAssertion( "CDGIH"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1h"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1H"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type IH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080560"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ih"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ii) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12684507"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607906"^^xsd:string) AnnotationAssertion( "GARD:9836"^^xsd:string) AnnotationAssertion( "MESH:C535747"^^xsd:string) AnnotationAssertion( "ORDO:79326"^^xsd:string) AnnotationAssertion( "CDG Ii"^^xsd:string) AnnotationAssertion( "CDG1I"^^xsd:string) AnnotationAssertion( "CDGIi"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1i"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1I"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Ii"^^xsd:string) AnnotationAssertion( "congenital disorders of glycosylation type Ii"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080561"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ii"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ij) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12872255"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608093"^^xsd:string) AnnotationAssertion( "GARD:9837"^^xsd:string) AnnotationAssertion( "MESH:C535748"^^xsd:string) AnnotationAssertion( "NCI:C126874"^^xsd:string) AnnotationAssertion( "ORDO:86309"^^xsd:string) AnnotationAssertion( "CDG Ij"^^xsd:string) AnnotationAssertion( "CDG1J"^^xsd:string) AnnotationAssertion( "CDGIj"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1j"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1J"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080562"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ij"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ik) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28108845"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608540"^^xsd:string) AnnotationAssertion( "GARD:9838"^^xsd:string) AnnotationAssertion( "MESH:C535749"^^xsd:string) AnnotationAssertion( "ORDO:79327"^^xsd:string) AnnotationAssertion( "CDG Ik"^^xsd:string) AnnotationAssertion( "CDG1K"^^xsd:string) AnnotationAssertion( "CDGIk"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1k"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 1K"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080563"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ik"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Il) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26453364"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608776"^^xsd:string) AnnotationAssertion( "GARD:9839"^^xsd:string) AnnotationAssertion( "MESH:C535750"^^xsd:string) AnnotationAssertion( "ORDO:79328"^^xsd:string) AnnotationAssertion( "ALG9 CONGENITAL DISORDER OF GLYCOSYLATION"^^xsd:string) AnnotationAssertion( "CDG Il"^^xsd:string) AnnotationAssertion( "CDG1L"^^xsd:string) AnnotationAssertion( "CDGIl"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1l"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 1L"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080564"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Il"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Im) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17273964"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610768"^^xsd:string) AnnotationAssertion( "GARD:12393"^^xsd:string) AnnotationAssertion( "MESH:C563666"^^xsd:string) AnnotationAssertion( "ORDO:91131"^^xsd:string) AnnotationAssertion( "CDG Im"^^xsd:string) AnnotationAssertion( "CDG1m"^^xsd:string) AnnotationAssertion( "CDGIm"^^xsd:string) AnnotationAssertion( "Congenital Disorder of Glycosylation Type 1M"^^xsd:string) AnnotationAssertion( "DK1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "DOLK-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1m"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Im"^^xsd:string) AnnotationAssertion( "dolichol kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080565"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Im"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation In) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23111317"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612015"^^xsd:string) AnnotationAssertion( "GARD:12394"^^xsd:string) AnnotationAssertion( "MESH:C567437"^^xsd:string) AnnotationAssertion( "ORDO:244310"^^xsd:string) AnnotationAssertion( "CDG In"^^xsd:string) AnnotationAssertion( "CDG1N"^^xsd:string) AnnotationAssertion( "CDGIn"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1n"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 1N"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type In"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080566"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation In"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ip) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22213132"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12396"^^xsd:string) AnnotationAssertion( "MIM:613661"^^xsd:string) AnnotationAssertion( "MONDO:0013349"^^xsd:string) AnnotationAssertion( "ORDO:280071"^^xsd:string) AnnotationAssertion( "ALG11-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "CDG1P"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1p"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 1P"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Ip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080567"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ip"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Iq) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20637498"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12397"^^xsd:string) AnnotationAssertion( "MIM:612379"^^xsd:string) AnnotationAssertion( "ORDO:324737"^^xsd:string) AnnotationAssertion( "CDG Iq"^^xsd:string) AnnotationAssertion( "CDG1Q"^^xsd:string) AnnotationAssertion( "CDGIq"^^xsd:string) AnnotationAssertion( "COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES"^^xsd:string) AnnotationAssertion( "Congenital Disorder of Glycosylation Type 1Q"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1q"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iq"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080568"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Iq"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ir) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22305527"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12398"^^xsd:string) AnnotationAssertion( "MIM:614507"^^xsd:string) AnnotationAssertion( "MONDO:0013789"^^xsd:string) AnnotationAssertion( "ORDO:300536"^^xsd:string) AnnotationAssertion( "CDG1R"^^xsd:string) AnnotationAssertion( "DDOST-congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1R"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1R"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Ir"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080569"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ir"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation It) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24499211"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614921"^^xsd:string) AnnotationAssertion( "MESH:C567859"^^xsd:string) AnnotationAssertion( "ORDO:319646"^^xsd:string) AnnotationAssertion( "CDG It"^^xsd:string) AnnotationAssertion( "CDG1T"^^xsd:string) AnnotationAssertion( "CDGIt"^^xsd:string) AnnotationAssertion( "GSD XIV"^^xsd:string) AnnotationAssertion( "GSD14"^^xsd:string) AnnotationAssertion( "PGM1 deficiency"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1t"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1T"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IT"^^xsd:string) AnnotationAssertion( "glycogen storage disease XIV"^^xsd:string) AnnotationAssertion( "phosphoglucomutase 1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080570"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation It"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Iu) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23109149"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12416"^^xsd:string) AnnotationAssertion( "MIM:615042"^^xsd:string) AnnotationAssertion( "ORDO:329178"^^xsd:string) AnnotationAssertion( "CDG IU"^^xsd:string) AnnotationAssertion( "CDG1U"^^xsd:string) AnnotationAssertion( "CDGIU"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1u"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1U"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iu"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080571"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Iu"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Iw) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23842455"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619714"^^xsd:string) AnnotationAssertion( "MIM:615596"^^xsd:string) AnnotationAssertion( "ORDO:370921"^^xsd:string) AnnotationAssertion( "CDG Iw"^^xsd:string) AnnotationAssertion( "CDG syndrome type Iw"^^xsd:string) AnnotationAssertion( "CDG1W"^^xsd:string) AnnotationAssertion( "CDGIw"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1w"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1W"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iw"^^xsd:string) AnnotationAssertion( "CDG1WAD"^^xsd:string) AnnotationAssertion( "CDG1WAR"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iw, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iw, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080572"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Iw"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Ix) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23842455"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615597"^^xsd:string) AnnotationAssertion( "MESH:C535751"^^xsd:string) AnnotationAssertion( "ORDO:370924"^^xsd:string) AnnotationAssertion( "CDG Ix"^^xsd:string) AnnotationAssertion( "CDG1X"^^xsd:string) AnnotationAssertion( "CDGIx"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1x"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1X"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Ix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080573"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Ix"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital disorder of glycosylation Iy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26264460"^^xsd:string) "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12405"^^xsd:string) AnnotationAssertion( "MIM:300934"^^xsd:string) AnnotationAssertion( "ORDO:370927"^^xsd:string) AnnotationAssertion( "CDG IY"^^xsd:string) AnnotationAssertion( "CDG1Y"^^xsd:string) AnnotationAssertion( "CDGIy"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation 1y"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1Y"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Iy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080574"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Iy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Larsen-like syndrome B3GAT3 type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25893793"^^xsd:string) "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T15:02:22Z"^^xsd:string) AnnotationAssertion( "MIM:245600"^^xsd:string) AnnotationAssertion( "MESH:C537874"^^xsd:string) AnnotationAssertion( "ORDO:284139"^^xsd:string) AnnotationAssertion( "JDSCD"^^xsd:string) AnnotationAssertion( "Larsen syndrome, recessive"^^xsd:string) AnnotationAssertion( "Larsen syndrome, recessive type"^^xsd:string) AnnotationAssertion( "autosomal recessive Larsen syndrome"^^xsd:string) AnnotationAssertion( "multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects"^^xsd:string) AnnotationAssertion( "multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects"^^xsd:string) AnnotationAssertion( "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"^^xsd:string) AnnotationAssertion( "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080575"^^xsd:string) AnnotationAssertion(rdfs:label "Larsen-like syndrome B3GAT3 type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Genevieve-type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27213289"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610442"^^xsd:string) AnnotationAssertion( "GARD:10057"^^xsd:string) AnnotationAssertion( "MESH:C535785"^^xsd:string) AnnotationAssertion( "ORDO:168454"^^xsd:string) AnnotationAssertion( "NANS deficiency"^^xsd:string) AnnotationAssertion( "SEMD, Genevieve type"^^xsd:string) AnnotationAssertion( "SEMDG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080576"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Genevieve-type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polygenic disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P"^^xsd:string) "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080577"^^xsd:string) AnnotationAssertion(rdfs:label "polygenic disease"^^xsd:string) SubClassOf( ) # Class: (digenic disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28977688"^^xsd:string) "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080578"^^xsd:string) AnnotationAssertion(rdfs:label "digenic disease"^^xsd:string) SubClassOf( ) # Class: (3-methylcrotonyl-CoA carboxylase 1 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency"^^xsd:string) "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535308"^^xsd:string) AnnotationAssertion( "MIM:210200"^^xsd:string) AnnotationAssertion( "MONDO:0008861"^^xsd:string) AnnotationAssertion( "3 alpha methylcrotonylglycinuria 1"^^xsd:string) AnnotationAssertion( "3-Methylcrotonylglycinuria I"^^xsd:string) AnnotationAssertion( "MCC1 deficiency"^^xsd:string) AnnotationAssertion( "MCC1D"^^xsd:string) AnnotationAssertion( "MCCD Type 1"^^xsd:string) AnnotationAssertion( "methylcrotonoyl-CoA carboxylase 1 deficiency"^^xsd:string) AnnotationAssertion( "methylcrotonylglycinuria type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080579"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylcrotonyl-CoA carboxylase 1 deficiency"^^xsd:string) SubClassOf( ) # Class: (3-methylcrotonyl-CoA carboxylase 2 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency"^^xsd:string) "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535309"^^xsd:string) AnnotationAssertion( "MIM:210210"^^xsd:string) AnnotationAssertion( "MONDO:0008862"^^xsd:string) AnnotationAssertion( "3 alpha methylcrotonyl-coa carboxylase 2 deficiency"^^xsd:string) AnnotationAssertion( "3 alpha methylcrotonylglycinuria 2"^^xsd:string) AnnotationAssertion( "3-methylcrotonylglycinuria II"^^xsd:string) AnnotationAssertion( "MCC2 deficiency"^^xsd:string) AnnotationAssertion( "MCC2D"^^xsd:string) AnnotationAssertion( "methylcrotonoyl-CoA carboxylase 2 deficiency"^^xsd:string) AnnotationAssertion( "methylcrotonylglycinuria type 2"^^xsd:string) AnnotationAssertion( "methylcrotonylglycinuria, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080580"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylcrotonyl-CoA carboxylase 2 deficiency"^^xsd:string) SubClassOf( ) # Class: (hyperekplexia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29390050"^^xsd:string) "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618011"^^xsd:string) AnnotationAssertion( "HKPX4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080581"^^xsd:string) AnnotationAssertion(rdfs:label "hyperekplexia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30401459"^^xsd:string) "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618275"^^xsd:string) AnnotationAssertion( "HYPT14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080582"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 14"^^xsd:string) SubClassOf( ) # Class: (Wolfram syndrome, mitochondrial form) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8383698"^^xsd:string) "A Wolfram syndrome that has_material_basis_in mutation in mtDNA. (DO)"^^xsd:string) AnnotationAssertion( "MIM:598500"^^xsd:string) AnnotationAssertion( "MESH:C564012"^^xsd:string) AnnotationAssertion( "DIDMOAD syndrome, mitochondrial form"^^xsd:string) AnnotationAssertion( "DIDMOAD, mitochondrial form"^^xsd:string) AnnotationAssertion( "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080583"^^xsd:string) AnnotationAssertion(rdfs:label "Wolfram syndrome, mitochondrial form"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Wolfram syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18544103"^^xsd:string) "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614296"^^xsd:string) AnnotationAssertion( "EFO:0009063"^^xsd:string) AnnotationAssertion( "MESH:C565631"^^xsd:string) AnnotationAssertion( "HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION"^^xsd:string) AnnotationAssertion( "WFSL"^^xsd:string) AnnotationAssertion( "WOLFRAM-LIKE DISORDER"^^xsd:string) AnnotationAssertion( "Wolfram-like syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080584"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Wolfram syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Van Maldergem syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24056717"^^xsd:string) "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "DCHS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DCHS1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:601390"^^xsd:string) AnnotationAssertion( "NCI:C188993"^^xsd:string) AnnotationAssertion( "VMLDS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080585"^^xsd:string) AnnotationAssertion(rdfs:label "Van Maldergem syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Van Maldergem syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24056717"^^xsd:string) "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-18T11:21:41Z"^^xsd:string) AnnotationAssertion( "FAT4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615546"^^xsd:string) AnnotationAssertion( "NCI:C188994"^^xsd:string) AnnotationAssertion( "VMLDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080586"^^xsd:string) AnnotationAssertion(rdfs:label "Van Maldergem syndrome 2"^^xsd:string) SubClassOf( ) # Class: (congenital myasthenic syndrome 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28726805"^^xsd:string) "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616224"^^xsd:string) AnnotationAssertion( "CMS22"^^xsd:string) AnnotationAssertion( "PREPL DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080587"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14660746"^^xsd:string) "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613506"^^xsd:string) AnnotationAssertion( "AGM5"^^xsd:string) AnnotationAssertion( "LRRC8A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant agammaglobulinemia 5"^^xsd:string) AnnotationAssertion( "autosomal dominant agammaglobulinemia due to LRRC8A defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080588"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klippel-Feil syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18425797"^^xsd:string) "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118100"^^xsd:string) AnnotationAssertion( "KFS1"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 1, dominant type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080589"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Feil syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klippel-Feil syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23290072"^^xsd:string) "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214300"^^xsd:string) AnnotationAssertion( "KFS2"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080590"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Feil syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klippel-Feil syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19864492"^^xsd:string) "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613702"^^xsd:string) AnnotationAssertion( "KFS3"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080591"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Feil syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klippel-Feil syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25748484"^^xsd:string) "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616549"^^xsd:string) AnnotationAssertion( "ORDO:447974"^^xsd:string) AnnotationAssertion( "KFS4"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism"^^xsd:string) AnnotationAssertion( "MYO18B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080592"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Feil syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (orofacial cleft 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17702008"^^xsd:string) "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608864"^^xsd:string) AnnotationAssertion( "OFC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate 6"^^xsd:string) AnnotationAssertion( "orofacial cleft 6, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080593"^^xsd:string) AnnotationAssertion(rdfs:label "orofacial cleft 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyper IgE recurrent infection syndrome 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19776401"^^xsd:string) "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2816"^^xsd:string) AnnotationAssertion( "MIM:243700"^^xsd:string) AnnotationAssertion( "ORDO:217390"^^xsd:string) AnnotationAssertion( "DOCK8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HIES2"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080594"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgE recurrent infection syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyper IgE recurrent infection syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29907690"^^xsd:string) "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618282"^^xsd:string) AnnotationAssertion( "HIES3"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyper-IgE syndrome 3, autosomal recessive, with recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080595"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgE recurrent infection syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyper IgE recurrent infection syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28747427"^^xsd:string) "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618523"^^xsd:string) AnnotationAssertion( "MIM:619752"^^xsd:string) AnnotationAssertion( "HIES4"^^xsd:string) AnnotationAssertion( "HIES4A"^^xsd:string) AnnotationAssertion( "HIES4B"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 4A, autosomal dominant"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 4B, autosomal recessive"^^xsd:string) AnnotationAssertion( "hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080596"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgE recurrent infection syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kleefstra syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/kleefstra-syndrome"^^xsd:string) "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS610253"^^xsd:string) AnnotationAssertion( "NCI:C129976"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080597"^^xsd:string) AnnotationAssertion(rdfs:label "Kleefstra syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kleefstra syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29069077"^^xsd:string) "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617768"^^xsd:string) AnnotationAssertion( "ORDO:261652"^^xsd:string) AnnotationAssertion( "KLEFS2"^^xsd:string) AnnotationAssertion( "KMT2C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KLEEFSTRA SYNDROME DUE TO A POINT MUTATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080598"^^xsd:string) AnnotationAssertion(rdfs:label "Kleefstra syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Coronavirus infectious disease) AnnotationAssertion(Annotation( "https://www.cdc.gov/coronavirus/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK7782/"^^xsd:string) Annotation( "https://www.who.int/health-topics/coronavirus"^^xsd:string) "A viral infectious disease that has_material_basis_in Coronavirus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007224"^^xsd:string) AnnotationAssertion( "MESH:D018352"^^xsd:string) AnnotationAssertion( "Coronavirus Infections"^^xsd:string) AnnotationAssertion( "Coronavirus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080599"^^xsd:string) AnnotationAssertion(rdfs:label "Coronavirus infectious disease"^^xsd:string) SubClassOf( ) # Class: (COVID-19) AnnotationAssertion(Annotation( "https://www.cdc.gov/coronavirus/2019-ncov/about/index.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145"^^xsd:string) Annotation( "https://www.who.int/emergencies/diseases/novel-coronavirus-2019"^^xsd:string) "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:U07.1"^^xsd:string) AnnotationAssertion( "MESH:D000086382"^^xsd:string) AnnotationAssertion( "MONDO:0100096"^^xsd:string) AnnotationAssertion( "NCI:C171133"^^xsd:string) AnnotationAssertion( "2019 Novel Coronavirus (2019-nCoV)"^^xsd:string) AnnotationAssertion( "2019-nCoV infection"^^xsd:string) AnnotationAssertion( "COVID19"^^xsd:string) AnnotationAssertion( "SARS-CoV-2 infection"^^xsd:string) AnnotationAssertion( "Wuhan coronavirus infection"^^xsd:string) AnnotationAssertion( "Wuhan seafood market pneumonia virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OAS1 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19)"^^xsd:string) AnnotationAssertion( "DOID:0080600"^^xsd:string) AnnotationAssertion(rdfs:label "COVID-19"^^xsd:string) SubClassOf( ) # Class: (germ cell benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string) "A benign neoplasm that derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080601"^^xsd:string) AnnotationAssertion(rdfs:label "germ cell benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign teratoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit"^^xsd:string) "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9080/1"^^xsd:string) AnnotationAssertion( "NCI:C67107"^^xsd:string) AnnotationAssertion( "benign teratomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080602"^^xsd:string) AnnotationAssertion(rdfs:label "benign teratoma"^^xsd:string) SubClassOf( ) # Class: (ankylosing spondylitis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6332689"^^xsd:string) "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106300"^^xsd:string) AnnotationAssertion( "SPDA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "spondyloarthropathy, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:0080603"^^xsd:string) AnnotationAssertion(rdfs:label "ankylosing spondylitis 1"^^xsd:string) SubClassOf( ) # Class: (ankylosing spondylitis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15234954"^^xsd:string) "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:183840"^^xsd:string) AnnotationAssertion( "SPDA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Spondyloarthropathy, Susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:0080604"^^xsd:string) AnnotationAssertion(rdfs:label "ankylosing spondylitis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ankylosing spondylitis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19416804"^^xsd:string) "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613238"^^xsd:string) AnnotationAssertion( "SPDA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Spondyloarthropathy, Susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:0080605"^^xsd:string) AnnotationAssertion(rdfs:label "ankylosing spondylitis 3"^^xsd:string) SubClassOf( ) # Class: (anterior segment dysgenesis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "PITX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:107250"^^xsd:string) AnnotationAssertion( "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES"^^xsd:string) AnnotationAssertion( "ASGD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080606"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21150893"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080607"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:601631"^^xsd:string) AnnotationAssertion( "MESH:C535535"^^xsd:string) AnnotationAssertion( "MESH:C566650"^^xsd:string) AnnotationAssertion( "ASGD3"^^xsd:string) AnnotationAssertion( "IGDA"^^xsd:string) AnnotationAssertion( "IRID 1"^^xsd:string) AnnotationAssertion( "IRID1"^^xsd:string) AnnotationAssertion( "glaucoma iridogoniodysplasia, familial"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis anomaly, autosomal dominant"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis type 1"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis type1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "iris hypoplasia and glaucoma"^^xsd:string) AnnotationAssertion( "DOID:0080608"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137600"^^xsd:string) AnnotationAssertion( "MESH:C535536"^^xsd:string) AnnotationAssertion( "ASGD4"^^xsd:string) AnnotationAssertion( "IHGA"^^xsd:string) AnnotationAssertion( "IRID 2"^^xsd:string) AnnotationAssertion( "IRID2"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis type 2"^^xsd:string) AnnotationAssertion( "iris hypoplasia with early onset glaucoma, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080609"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604229"^^xsd:string) AnnotationAssertion( "ASGD5"^^xsd:string) AnnotationAssertion( "anterior segment dysgenesis 5, Peters anomaly subtype"^^xsd:string) AnnotationAssertion( "anterior segment dysgenesis 5, multiple subtypes"^^xsd:string) AnnotationAssertion( "anterior segment dysgenesis 5, multiple types"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080610"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 5"^^xsd:string) SubClassOf( ) # Class: (anterior segment dysgenesis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-24T12:34:51Z"^^xsd:string) AnnotationAssertion( "CYP1B1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CYP1B1-related disorder"^^xsd:string) AnnotationAssertion( "MIM:617315"^^xsd:string) AnnotationAssertion( "ASGD6"^^xsd:string) AnnotationAssertion( "anterior segment dysgenesis 6, multiple subtypes"^^xsd:string) AnnotationAssertion( "IRIDO-CORNEO-TRABECULAR DYSGENESIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080611"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 6"^^xsd:string) SubClassOf( ) # Class: (anterior segment dysgenesis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T14:21:00Z"^^xsd:string) AnnotationAssertion( "MIM:269400"^^xsd:string) AnnotationAssertion( "ASGD7"^^xsd:string) AnnotationAssertion( "COPOA"^^xsd:string) AnnotationAssertion( "sclerocornea with other ocular anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080612"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior segment dysgenesis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27839872"^^xsd:string) "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617319"^^xsd:string) AnnotationAssertion( "ASGD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080613"^^xsd:string) AnnotationAssertion(rdfs:label "anterior segment dysgenesis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculocutaneous albinism type VI) AnnotationAssertion(Annotation( "https://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type"^^xsd:string) "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113750"^^xsd:string) AnnotationAssertion( "OCA6"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism-6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080614"^^xsd:string) AnnotationAssertion(rdfs:label "oculocutaneous albinism type VI"^^xsd:string) SubClassOf( ) # Class: (nephroma) AnnotationAssertion(Annotation( "https://www.stjude.org/disease/nephroma.html"^^xsd:string) "A kidney benign neoplasm that is located_in the kidney cortex. (DO)"^^xsd:string) AnnotationAssertion( "benign nephroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080615"^^xsd:string) AnnotationAssertion(rdfs:label "nephroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney cortex disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys"^^xsd:string) "A kidney disease that is located_in the kidney cortex. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-29T12:24:01Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080616"^^xsd:string) AnnotationAssertion(rdfs:label "kidney cortex disease"^^xsd:string) SubClassOf( ) # Class: (lymph node benign neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null"^^xsd:string) "An immune system organ benign neoplasm that is located_in the lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-05-30T12:16:44Z"^^xsd:string) AnnotationAssertion( "NCI:C3636"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080617"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymph node carcinoma) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/patientinstructions/000824.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/"^^xsd:string) "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080618"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (auditory system benign neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null"^^xsd:string) "A sensory system benign neoplasm that is located in the auditory system. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C8417"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080619"^^xsd:string) AnnotationAssertion(rdfs:label "auditory system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial glucocorticoid deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency"^^xsd:string) "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS202200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080620"^^xsd:string) AnnotationAssertion(rdfs:label "familial glucocorticoid deficiency"^^xsd:string) SubClassOf( ) # Class: (glucocorticoid deficiency 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19500760"^^xsd:string) "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202200"^^xsd:string) AnnotationAssertion( "MESH:C565974"^^xsd:string) AnnotationAssertion( "ACTH resistance"^^xsd:string) AnnotationAssertion( "FGD1"^^xsd:string) AnnotationAssertion( "GCCD1"^^xsd:string) AnnotationAssertion( "adrenal unresponsiveness to ACTH"^^xsd:string) AnnotationAssertion( "familial glucocorticoid deficiency 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080621"^^xsd:string) AnnotationAssertion(rdfs:label "glucocorticoid deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22871920"^^xsd:string) "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202370"^^xsd:string) AnnotationAssertion( "NCI:C155751"^^xsd:string) AnnotationAssertion( "PBD2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080622"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heimler syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26387595"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234580"^^xsd:string) AnnotationAssertion( "Deafness-enamel hypoplasia-nail defects syndrome"^^xsd:string) AnnotationAssertion( "MESH:C535994"^^xsd:string) AnnotationAssertion( "Deafness Enamel Hypoplasia Nail Defects"^^xsd:string) AnnotationAssertion( "HMLR1"^^xsd:string) AnnotationAssertion( "Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects"^^xsd:string) AnnotationAssertion( "Heimler syndrome"^^xsd:string) AnnotationAssertion( "PBD1C"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER 1C"^^xsd:string) AnnotationAssertion( "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects"^^xsd:string) AnnotationAssertion( "peroxisomal biogenesis disorder 1C"^^xsd:string) AnnotationAssertion( "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080623"^^xsd:string) AnnotationAssertion(rdfs:label "Heimler syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heimler syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16530715"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616617"^^xsd:string) AnnotationAssertion( "HMLR2"^^xsd:string) AnnotationAssertion( "PBD4C"^^xsd:string) AnnotationAssertion( "peroxisomal biogenesis disorder 4C"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder 4C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080624"^^xsd:string) AnnotationAssertion(rdfs:label "Heimler syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17133096"^^xsd:string) "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:202700"^^xsd:string) AnnotationAssertion( "ELANE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565969"^^xsd:string) AnnotationAssertion( "SCN1"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia, autosomal dominant 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080625"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 1"^^xsd:string) SubClassOf( ) # Class: (corticosterone methyloxidase deficiency 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency"^^xsd:string) "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203400"^^xsd:string) AnnotationAssertion( "CYP11B2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPOALDOSTERONISM"^^xsd:string) AnnotationAssertion( "aldosterone synthase deficiency"^^xsd:string) AnnotationAssertion( "MESH:C537806"^^xsd:string) AnnotationAssertion( "ORDO:427"^^xsd:string) AnnotationAssertion( "18-alpha hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "18-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "18-oxidase deficiency"^^xsd:string) AnnotationAssertion( "ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE"^^xsd:string) AnnotationAssertion( "ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE"^^xsd:string) AnnotationAssertion( "ALDOSTERONE DEFICIENCY I"^^xsd:string) AnnotationAssertion( "Aldosterone Deficiency Type I"^^xsd:string) AnnotationAssertion( "Aldosterone deficiency 1"^^xsd:string) AnnotationAssertion( "Aldosterone deficiency due to defect in 18-hydroxylase"^^xsd:string) AnnotationAssertion( "CMO I Deficiency"^^xsd:string) AnnotationAssertion( "CORTICOSTERONE 18-MONOOXYGENASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Corticosterone Methyloxidase Type I Deficiency"^^xsd:string) AnnotationAssertion( "Corticosterone methyloxidase type 1 deficiency"^^xsd:string) AnnotationAssertion( "FHHA1A"^^xsd:string) AnnotationAssertion( "FHHA1B"^^xsd:string) AnnotationAssertion( "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1"^^xsd:string) AnnotationAssertion( "Hyperreninemic Hypoaldosteronism, Familial, Type I"^^xsd:string) AnnotationAssertion( "steroid 18-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "steroid 18-oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080626"^^xsd:string) AnnotationAssertion(rdfs:label "corticosterone methyloxidase deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alopecia-mental retardation syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17451405"^^xsd:string) "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "GARD:612"^^xsd:string) AnnotationAssertion( "MIM:PS203650"^^xsd:string) AnnotationAssertion( "ORDO:2850"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080627"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia-mental retardation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alopecia-mental retardation syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28054173"^^xsd:string) "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203650"^^xsd:string) AnnotationAssertion( "MESH:C565965"^^xsd:string) AnnotationAssertion( "AMR Syndrome"^^xsd:string) AnnotationAssertion( "APMR1"^^xsd:string) AnnotationAssertion( "alopecia-intellectual disability syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080628"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia-mental retardation syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alopecia-mental retardation syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16922726"^^xsd:string) "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-08T11:54:31Z"^^xsd:string) AnnotationAssertion( "MIM:610422"^^xsd:string) AnnotationAssertion( "MESH:C563668"^^xsd:string) AnnotationAssertion( "APMR2"^^xsd:string) AnnotationAssertion( "alopecia-intellectual disability syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080629"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia-mental retardation syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia"^^xsd:string) "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "DOID:7061"^^xsd:string) AnnotationAssertion( "MIM:176310"^^xsd:string) AnnotationAssertion( "ICDO:9836/3"^^xsd:string) AnnotationAssertion( "MESH:D015448"^^xsd:string) AnnotationAssertion( "MESH:D015452"^^xsd:string) AnnotationAssertion( "NCI:C8936"^^xsd:string) AnnotationAssertion( "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA, NOT OTHERWISE SPECIFIED"^^xsd:string) AnnotationAssertion( "B lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "B-ALL"^^xsd:string) AnnotationAssertion( "B-cell leukemia"^^xsd:string) AnnotationAssertion( "B-cell leukemias"^^xsd:string) AnnotationAssertion( "B-cell lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "B-cell lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "B-lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "Pre B ALL"^^xsd:string) AnnotationAssertion( "acute pre-B-cell leukemia"^^xsd:string) AnnotationAssertion( "pre-B-cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "pre-B-cell leukemia"^^xsd:string) AnnotationAssertion( "pre-B-cell leukemias"^^xsd:string) AnnotationAssertion( "precursor B cell lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "precursor B cell lymphoblastic lymphoma"^^xsd:string) AnnotationAssertion( "precursor B lymphoblastic lymphoma/leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080630"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Elsahy-Waters syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20949527"^^xsd:string) "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211380"^^xsd:string) AnnotationAssertion( "GARD:955"^^xsd:string) AnnotationAssertion( "MESH:C537084"^^xsd:string) AnnotationAssertion( "ORDO:1299"^^xsd:string) AnnotationAssertion( "BSG syndrome"^^xsd:string) AnnotationAssertion( "Brachioskeletogenital Syndrome"^^xsd:string) AnnotationAssertion( "ESWS"^^xsd:string) AnnotationAssertion( "branchioskeletogenital syndrome"^^xsd:string) AnnotationAssertion( "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080631"^^xsd:string) AnnotationAssertion(rdfs:label "Elsahy-Waters syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fazio-Londe disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK299312/"^^xsd:string) "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T18:12:54Z"^^xsd:string) AnnotationAssertion( "MIM:211500"^^xsd:string) AnnotationAssertion( "Fazio Londe syndrome"^^xsd:string) AnnotationAssertion( "childhood progressive bulbar palsy"^^xsd:string) AnnotationAssertion( "progressive bulbar palsy of childhood"^^xsd:string) AnnotationAssertion( "riboflavin transporter deficiency neuronopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080632"^^xsd:string) AnnotationAssertion(rdfs:label "Fazio-Londe disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental cardiac valvular defect) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29581714"^^xsd:string) "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212093"^^xsd:string) AnnotationAssertion( "MESH:C565882"^^xsd:string) AnnotationAssertion( "CVDP1"^^xsd:string) AnnotationAssertion( "cardiac valvular dysplasia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080633"^^xsd:string) AnnotationAssertion(rdfs:label "developmental cardiac valvular defect"^^xsd:string) SubClassOf( ) # Class: (nanophthalmos) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Nanophthalmos"^^xsd:string) "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS600165"^^xsd:string) AnnotationAssertion( "ORDO:35612"^^xsd:string) AnnotationAssertion( "nanophthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080634"^^xsd:string) AnnotationAssertion(rdfs:label "nanophthalmos"^^xsd:string) SubClassOf( ) # Class: (optic disc anomalies with retinal and/or macular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24702266"^^xsd:string) "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212550"^^xsd:string) AnnotationAssertion( "ODRMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080635"^^xsd:string) AnnotationAssertion(rdfs:label "optic disc anomalies with retinal and/or macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string) "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T12:16:09Z"^^xsd:string) AnnotationAssertion( "MIM:PS309800"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080636"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia"^^xsd:string) SubClassOf( ) # Class: (isolated microphthalmia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string) "A microphthalmia that occurs by itself. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080637"^^xsd:string) AnnotationAssertion(rdfs:label "isolated microphthalmia"^^xsd:string) SubClassOf( ) # Class: (B-cell acute lymphoblastic leukemia) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia"^^xsd:string) "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000093"^^xsd:string) AnnotationAssertion( "EFO:0000094"^^xsd:string) AnnotationAssertion( "MONDO:0020511"^^xsd:string) AnnotationAssertion( "NCI:C8644"^^xsd:string) AnnotationAssertion( "B acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "B-cell acute lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "precursor B-cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "B-cell acute lymphoblastic leukemia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080638"^^xsd:string) AnnotationAssertion(rdfs:label "B-cell acute lymphoblastic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807"^^xsd:string) "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C9312"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080639"^^xsd:string) AnnotationAssertion(rdfs:label "bone sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder benign neoplasm) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15"^^xsd:string) "A biliary tract benign neoplasm that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-11T14:17:06Z"^^xsd:string) AnnotationAssertion( "NCI:C4440"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080640"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tongue carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null"^^xsd:string) "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080641"^^xsd:string) AnnotationAssertion(rdfs:label "tongue carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Middle East respiratory syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23891402/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29495250"^^xsd:string) Annotation( "https://www.cdc.gov/coronavirus/mers/index.html"^^xsd:string) Annotation( "https://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov)"^^xsd:string) "A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. (DO)"^^xsd:string) AnnotationAssertion( "MERS"^^xsd:string) AnnotationAssertion( "MERS (Middle East respiratory syndrome)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080642"^^xsd:string) AnnotationAssertion(rdfs:label "Middle East respiratory syndrome"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with BCR-ABL1) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. (DO)"^^xsd:string) AnnotationAssertion( "ABL1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "ICDO:9812/3"^^xsd:string) AnnotationAssertion( "NCI:C80331"^^xsd:string) AnnotationAssertion( "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(9;22)(Q34.1;Q11.2)"^^xsd:string) AnnotationAssertion( "B-ALL with BCR-ABL1"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BCR-ABL1"^^xsd:string) AnnotationAssertion( "DOID:0080643"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with BCR-ABL1"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma MLL rearranged) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9813/3"^^xsd:string) AnnotationAssertion( "NCI:C80342"^^xsd:string) AnnotationAssertion( "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(V;11Q23.3)"^^xsd:string) AnnotationAssertion( "B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged"^^xsd:string) AnnotationAssertion( "B-ALL KMT2A rearranged"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma KMT2A rearranged"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged"^^xsd:string) AnnotationAssertion( "MIXED PHENOTYPE ACUTE LEUKEMIA WITH T(V;11Q23.3)"^^xsd:string) AnnotationAssertion( "precursor B lymphoblastic lymphoma/leukemia with T(V;11Q23.3)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "KMT2A rearranged"^^xsd:string) AnnotationAssertion( "DOID:0080644"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma MLL rearranged"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T12:14:21Z"^^xsd:string) AnnotationAssertion( "ICDO:9814/3"^^xsd:string) AnnotationAssertion( "NCI:C80343"^^xsd:string) AnnotationAssertion( "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(12;21)(P13.2;Q22.1)"^^xsd:string) AnnotationAssertion( "B-ALL with ETV6-RUNX1"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with T(12;21)(P13;Q22)"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"^^xsd:string) AnnotationAssertion( "precursor B lymphoblastic lymphoma/leukemia with T(12;21)(P13;Q22)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ETV6-RUNX1"^^xsd:string) AnnotationAssertion( "TEL-AML1 (ETV6-RUNX1)"^^xsd:string) AnnotationAssertion( "DOID:0080645"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with hyperdiploidy) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9815/3"^^xsd:string) AnnotationAssertion( "NCI:C80335"^^xsd:string) AnnotationAssertion( "B-ALL with hyperdiploidy"^^xsd:string) AnnotationAssertion( "precursor B lymphoblastic lymphoma/leukemia with hyperdiploidy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080646"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with hypodiploidy) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9816/3"^^xsd:string) AnnotationAssertion( "NCI:C80338"^^xsd:string) AnnotationAssertion( "B-ALL with hypodiploidy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080647"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with hypodiploidy"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with IL3-IGH) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9817/3"^^xsd:string) AnnotationAssertion( "NCI:C80346"^^xsd:string) AnnotationAssertion( "B-ALL with IL3-IGH"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080648"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with IL3-IGH"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with TCF3-PBX1) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9818/3"^^xsd:string) AnnotationAssertion( "NCI:C80347"^^xsd:string) AnnotationAssertion( "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)"^^xsd:string) AnnotationAssertion( "B-ALL with TCF3-PBX1"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080649"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080650"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like"^^xsd:string) SubClassOf( ) # Class: (B-lymphoblastic leukemia/lymphoma with iAMP21) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C130039"^^xsd:string) AnnotationAssertion( "B-ALL with iAMP21"^^xsd:string) AnnotationAssertion( "B-lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21"^^xsd:string) AnnotationAssertion( "Intrachromosomal amplification of chromosome 21 (iAMP21)"^^xsd:string) AnnotationAssertion( "precursor B lymphoblastic lymphoma/leukemia with intrachromosomal amplification of chromosome 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080651"^^xsd:string) AnnotationAssertion(rdfs:label "B-lymphoblastic leukemia/lymphoma with iAMP21"^^xsd:string) SubClassOf( ) # Class: (calcium oxalate nephrolithiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16570061"^^xsd:string) "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009065"^^xsd:string) AnnotationAssertion( "MESH:C563477"^^xsd:string) AnnotationAssertion( "MIM:PS167030"^^xsd:string) AnnotationAssertion( "CAON"^^xsd:string) AnnotationAssertion( "calcium oxalate urolithiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080652"^^xsd:string) AnnotationAssertion(rdfs:label "calcium oxalate nephrolithiasis"^^xsd:string) SubClassOf( ) # Class: (urolithiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/"^^xsd:string) "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T14:26:54Z"^^xsd:string) AnnotationAssertion( "DOID:9001149"^^xsd:string) AnnotationAssertion( "OMIA:001033"^^xsd:string) AnnotationAssertion( "MESH:D052878"^^xsd:string) AnnotationAssertion( "NCI:C114688"^^xsd:string) AnnotationAssertion( "urinary lithiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080653"^^xsd:string) AnnotationAssertion(rdfs:label "urolithiasis"^^xsd:string) SubClassOf( ) # Class: (uric acid urolithiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14036165"^^xsd:string) "An urolithiasis in which the composition of the stones is predominantly urate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:191700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080654"^^xsd:string) AnnotationAssertion(rdfs:label "uric acid urolithiasis"^^xsd:string) SubClassOf( ) # Class: (hypophosphatemic nephrolithiasis/osteoporosis) AnnotationAssertion(Annotation( "https://www.nejm.org/doi/full/10.1056/NEJMoa020028"^^xsd:string) "A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-16T09:54:24Z"^^xsd:string) AnnotationAssertion( "MIM:PS612286"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080655"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatemic nephrolithiasis/osteoporosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (45,X/46,XY mixed gonadal dysgenesis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism"^^xsd:string) "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:1772"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080656"^^xsd:string) AnnotationAssertion(rdfs:label "45,X/46,XY mixed gonadal dysgenesis"^^xsd:string) SubClassOf( ) # Class: (nonsyndromic aplasia cutis congenita) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9415483"^^xsd:string) "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080661"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic aplasia cutis congenita"^^xsd:string) SubClassOf( ) # Class: (atrial standstill 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16176547"^^xsd:string) "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:108770"^^xsd:string) AnnotationAssertion( "MESH:C563984"^^xsd:string) AnnotationAssertion( "ORDO:1344"^^xsd:string) AnnotationAssertion( "ATRST1"^^xsd:string) AnnotationAssertion( "Atrial Cardiomyopathy with Heart Block"^^xsd:string) AnnotationAssertion( "Atrial Standstill"^^xsd:string) AnnotationAssertion( "Atrial Standstill 1, Digenic"^^xsd:string) AnnotationAssertion( "familial cardiomyopathy with conduction disturbance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080662"^^xsd:string) AnnotationAssertion(rdfs:label "atrial standstill 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrial standstill 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16176547"^^xsd:string) "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "NPPA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615745"^^xsd:string) AnnotationAssertion( "ATRST2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080663"^^xsd:string) AnnotationAssertion(rdfs:label "atrial standstill 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diaphyseal medullary stenosis with malignant fibrous histiocytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8781110"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22464254"^^xsd:string) "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536104"^^xsd:string) AnnotationAssertion( "MIM:112250"^^xsd:string) AnnotationAssertion( "GARD:10072"^^xsd:string) AnnotationAssertion( "MESH:C536169"^^xsd:string) AnnotationAssertion( "NCI:C122660"^^xsd:string) AnnotationAssertion( "ORDO:85182"^^xsd:string) AnnotationAssertion( "BDMF"^^xsd:string) AnnotationAssertion( "DMSMFH"^^xsd:string) AnnotationAssertion( "Hardcastle syndrome"^^xsd:string) AnnotationAssertion( "bone dysplasia with malignant fibrous histiocytoma"^^xsd:string) AnnotationAssertion( "bone dysplasia with medullary fibrosarcoma"^^xsd:string) AnnotationAssertion( "bone dysplasia-medullary fibrosarcoma syndrome"^^xsd:string) AnnotationAssertion( "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"^^xsd:string) AnnotationAssertion( "limb-girdle myopathy with bone fragility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080664"^^xsd:string) AnnotationAssertion(rdfs:label "diaphyseal medullary stenosis with malignant fibrous histiocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (warfarin resistance) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/warfarin-resistance"^^xsd:string) "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:122700"^^xsd:string) AnnotationAssertion( "GARD:12721"^^xsd:string) AnnotationAssertion( "MESH:C563039"^^xsd:string) AnnotationAssertion( "Coumarin Resistance"^^xsd:string) AnnotationAssertion( "poor metabolism of coumarin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080665"^^xsd:string) AnnotationAssertion(rdfs:label "warfarin resistance"^^xsd:string) SubClassOf( ) # Class: (warfarin sensitivity) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance"^^xsd:string) "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T11:14:20Z"^^xsd:string) AnnotationAssertion( "MESH:C567080"^^xsd:string) AnnotationAssertion( "coumarin sensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080666"^^xsd:string) AnnotationAssertion(rdfs:label "warfarin sensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal muscular atrophy type 0) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=10700538"^^xsd:string) "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. (DO)"^^xsd:string) AnnotationAssertion( "very severe spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080667"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy type 0"^^xsd:string) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29499165/"^^xsd:string) "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618031"^^xsd:string) AnnotationAssertion( "MONDO:0054832"^^xsd:string) AnnotationAssertion( "PPCD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080669"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meesmann corneal dystrophy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22174841/"^^xsd:string) "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-01T10:42:57Z"^^xsd:string) AnnotationAssertion( "MIM:122100"^^xsd:string) AnnotationAssertion( "MECD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080670"^^xsd:string) AnnotationAssertion(rdfs:label "Meesmann corneal dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meesmann corneal dystrophy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18806880/"^^xsd:string) "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618767"^^xsd:string) AnnotationAssertion( "MECD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080671"^^xsd:string) AnnotationAssertion(rdfs:label "Meesmann corneal dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrochondrogenesis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21035103/"^^xsd:string) "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-16T13:47:28Z"^^xsd:string) AnnotationAssertion( "MIM:228520"^^xsd:string) AnnotationAssertion( "FBCG1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080672"^^xsd:string) AnnotationAssertion(rdfs:label "fibrochondrogenesis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrochondrogenesis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22246659/"^^xsd:string) "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614524"^^xsd:string) AnnotationAssertion( "FBCG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080673"^^xsd:string) AnnotationAssertion(rdfs:label "fibrochondrogenesis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (luminal breast carcinoma B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/"^^xsd:string) "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. (DO)"^^xsd:string) AnnotationAssertion( "breast tumor luminal"^^xsd:string) AnnotationAssertion( "NCI:C53555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080674"^^xsd:string) AnnotationAssertion(rdfs:label "luminal breast carcinoma B"^^xsd:string) SubClassOf( ) # Class: (Stickler syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15286167/"^^xsd:string) "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604841"^^xsd:string) AnnotationAssertion( "MESH:C537493"^^xsd:string) AnnotationAssertion( "STL2"^^xsd:string) AnnotationAssertion( "Stickler Syndrome, Type II"^^xsd:string) AnnotationAssertion( "Stickler syndrome, beaded vitreous type"^^xsd:string) AnnotationAssertion( "Stickler syndrome, type 2"^^xsd:string) AnnotationAssertion( "Stickler syndrome, vitreous type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080675"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stickler syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21671392/"^^xsd:string) "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T15:15:35Z"^^xsd:string) AnnotationAssertion( "MIM:108300"^^xsd:string) AnnotationAssertion( "OMIA:001522"^^xsd:string) AnnotationAssertion( "MESH:C537492"^^xsd:string) AnnotationAssertion( "NCI:C168733"^^xsd:string) AnnotationAssertion( "ORDO:90653"^^xsd:string) AnnotationAssertion( "AOM"^^xsd:string) AnnotationAssertion( "Oculoskeletal dysplasia 1"^^xsd:string) AnnotationAssertion( "STL1"^^xsd:string) AnnotationAssertion( "Stickler dysplasia"^^xsd:string) AnnotationAssertion( "Stickler syndrome, membranous vitreous type"^^xsd:string) AnnotationAssertion( "Stickler syndrome, type 1"^^xsd:string) AnnotationAssertion( "Stickler syndrome, type I"^^xsd:string) AnnotationAssertion( "Stickler syndrome, vitreous type 1"^^xsd:string) AnnotationAssertion( "hereditary arthro-ophthalmo-dystrophy"^^xsd:string) AnnotationAssertion( "hereditary arthro-ophthalmopathy"^^xsd:string) AnnotationAssertion( "hereditary progressive arthroophthalmopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080676"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otospondylomegaepiphyseal dysplasia, autosomal dominant) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15372529/"^^xsd:string) "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184840"^^xsd:string) AnnotationAssertion( "MESH:C535776"^^xsd:string) AnnotationAssertion( "MESH:C537494"^^xsd:string) AnnotationAssertion( "Heterozygous Osmed"^^xsd:string) AnnotationAssertion( "Heterozygous Otospondylomegaepiphyseal Dysplasia"^^xsd:string) AnnotationAssertion( "OSMEDA"^^xsd:string) AnnotationAssertion( "Pierre Robin Syndrome with Fetal Chondrodysplasia"^^xsd:string) AnnotationAssertion( "STL3"^^xsd:string) AnnotationAssertion( "Stickler syndrome nonocular type"^^xsd:string) AnnotationAssertion( "Stickler syndrome, type 3"^^xsd:string) AnnotationAssertion( "Stickler syndrome, type III"^^xsd:string) AnnotationAssertion( "Weissenbacher-Zweymuller syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080677"^^xsd:string) AnnotationAssertion(rdfs:label "otospondylomegaepiphyseal dysplasia, autosomal dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucolipidosis III gamma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10712439/"^^xsd:string) "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:252605"^^xsd:string) AnnotationAssertion( "MESH:C565367"^^xsd:string) AnnotationAssertion( "NCI:C129978"^^xsd:string) AnnotationAssertion( "ORDO:423470"^^xsd:string) AnnotationAssertion( "ML III gamma"^^xsd:string) AnnotationAssertion( "ML IIIC"^^xsd:string) AnnotationAssertion( "Mucolipidosis III, Complementation Group C"^^xsd:string) AnnotationAssertion( "Mucolipidosis III, Iranian Variant Form"^^xsd:string) AnnotationAssertion( "Mucolipidosis III, Variant Form"^^xsd:string) AnnotationAssertion( "Mucolipidosis IIIC"^^xsd:string) AnnotationAssertion( "mucolipidosis type III gamma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080678"^^xsd:string) AnnotationAssertion(rdfs:label "mucolipidosis III gamma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neuronal intestinal dysplasia type A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8882403/"^^xsd:string) "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243180"^^xsd:string) AnnotationAssertion( "NID A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF"^^xsd:string) AnnotationAssertion( "INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE"^^xsd:string) AnnotationAssertion( "PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE"^^xsd:string) AnnotationAssertion( "VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "VSCN1"^^xsd:string) AnnotationAssertion( "DOID:0080679"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal intestinal dysplasia type A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal intestinal dysplasia type B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8882403/"^^xsd:string) "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601223"^^xsd:string) AnnotationAssertion( "NID B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080680"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal intestinal dysplasia type B"^^xsd:string) SubClassOf( ) # Class: (X-linked chronic idiopathic intestinal pseudo-obstruction) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8644737/"^^xsd:string) "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-16T09:58:41Z"^^xsd:string) AnnotationAssertion( "MIM:300048"^^xsd:string) AnnotationAssertion( "GARD:3017"^^xsd:string) AnnotationAssertion( "MESH:C535532"^^xsd:string) AnnotationAssertion( "CIIP"^^xsd:string) AnnotationAssertion( "CIIP, X-LINKED"^^xsd:string) AnnotationAssertion( "CIIPX"^^xsd:string) AnnotationAssertion( "Congenital Idiopathic Intestinal Pseudoobstruction"^^xsd:string) AnnotationAssertion( "IPOX"^^xsd:string) AnnotationAssertion( "Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement"^^xsd:string) AnnotationAssertion( "Intestinal pseudoobstruction chronic idiopathic"^^xsd:string) AnnotationAssertion( "neuronal intestinal pseudoobstruction, chronic idiopathic, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONGENITAL SHORT BOWEL SYNDROME, X-LINKED"^^xsd:string) AnnotationAssertion( "DOID:0080681"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked chronic idiopathic intestinal pseudo-obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant familial visceral neuropathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16088914/"^^xsd:string) "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609629"^^xsd:string) AnnotationAssertion( "MESH:C566502"^^xsd:string) AnnotationAssertion( "VSCN3"^^xsd:string) AnnotationAssertion( "familial enteric neuropathy"^^xsd:string) AnnotationAssertion( "familial visceral neuropathy3, autosomal dominant"^^xsd:string) AnnotationAssertion( "idiopathic intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "neuropathic chronic intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080682"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant familial visceral neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonsyndromic congenital nail disorder) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26149975/"^^xsd:string) "A nail disease that is characterized by underdevelopment of nails. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS161050"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080683"^^xsd:string) AnnotationAssertion(rdfs:label "nonsyndromic congenital nail disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse midline glioma, H3 K27M-mutant) AnnotationAssertion(Annotation( "https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31290035/"^^xsd:string) Annotation( "https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full"^^xsd:string) "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000026"^^xsd:string) AnnotationAssertion( "NCI:C129309"^^xsd:string) AnnotationAssertion( "NCI:C94764"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080684"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse midline glioma, H3 K27M-mutant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aortic dissection) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK441963/"^^xsd:string) "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C50461"^^xsd:string) AnnotationAssertion( "acute aortic dissection"^^xsd:string) AnnotationAssertion( "acute aortic dissections"^^xsd:string) AnnotationAssertion( "aortic dissections"^^xsd:string) AnnotationAssertion( "ASCENDING AORTIC DISSECTION"^^xsd:string) AnnotationAssertion( "DESCENDING AORTIC DISSECTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080685"^^xsd:string) AnnotationAssertion(rdfs:label "aortic dissection"^^xsd:string) SubClassOf( ) # Class: (tubular aggregate myopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/"^^xsd:string) "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T14:29:12Z"^^xsd:string) AnnotationAssertion( "ORAI1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615883"^^xsd:string) AnnotationAssertion( "TAM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080686"^^xsd:string) AnnotationAssertion(rdfs:label "tubular aggregate myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reducing body myopathy 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18952429/"^^xsd:string) "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300718"^^xsd:string) AnnotationAssertion( "MESH:C567468"^^xsd:string) AnnotationAssertion( "RBMX1B"^^xsd:string) AnnotationAssertion( "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET"^^xsd:string) AnnotationAssertion( "reducing body myopathy, X-linked, childhood-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080687"^^xsd:string) AnnotationAssertion(rdfs:label "reducing body myopathy 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mosaic variegated aneuploidy syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome"^^xsd:string) "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-27T09:06:13Z"^^xsd:string) AnnotationAssertion( "GARD:3007"^^xsd:string) AnnotationAssertion( "MESH:C536987"^^xsd:string) AnnotationAssertion( "MIM:PS257300"^^xsd:string) AnnotationAssertion( "ORDO:1052"^^xsd:string) AnnotationAssertion( "mosaic variegated aneuploidy syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080688"^^xsd:string) AnnotationAssertion(rdfs:label "mosaic variegated aneuploidy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mosaic variegated aneuploidy syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28553959/"^^xsd:string) "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617598"^^xsd:string) AnnotationAssertion( "MVA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080689"^^xsd:string) AnnotationAssertion(rdfs:label "mosaic variegated aneuploidy syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (RASopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/RASopathy"^^xsd:string) Annotation( "https://www.nature.com/articles/jhg2015114"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/"^^xsd:string) "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003333"^^xsd:string) AnnotationAssertion( "EFO:1001502"^^xsd:string) AnnotationAssertion( "RAS/mitogen-activated protein kinase syndrome"^^xsd:string) AnnotationAssertion( "RASopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080690"^^xsd:string) AnnotationAssertion(rdfs:label "RASopathy"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome-like disorder with loose anagen hair) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10719/disease"^^xsd:string) "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10719"^^xsd:string) AnnotationAssertion( "MESH:C564342"^^xsd:string) AnnotationAssertion( "MIM:PS607721"^^xsd:string) AnnotationAssertion( "ORDO:2701"^^xsd:string) AnnotationAssertion( "Noonan-like syndrome with loose anagen hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080691"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome-like disorder with loose anagen hair"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome-like disorder with loose anagen hair 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25137548/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30329053/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265/"^^xsd:string) "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T10:18:13Z"^^xsd:string) AnnotationAssertion( "MIM:607721"^^xsd:string) AnnotationAssertion( "Mazzanti syndrome"^^xsd:string) AnnotationAssertion( "NSLH"^^xsd:string) AnnotationAssertion( "NSLH1"^^xsd:string) AnnotationAssertion( "SHOC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Tosti syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080692"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome-like disorder with loose anagen hair 1"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome-like disorder with loose anagen hair 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27264673/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28211982/"^^xsd:string) "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617506"^^xsd:string) AnnotationAssertion( "NSLH2"^^xsd:string) AnnotationAssertion( "PPP1CB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080693"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome-like disorder with loose anagen hair 2"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20083416/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26123727"^^xsd:string) "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0060364"^^xsd:string) AnnotationAssertion( "MESH:C537311"^^xsd:string) AnnotationAssertion( "GARD:65"^^xsd:string) AnnotationAssertion( "MESH:C537548"^^xsd:string) AnnotationAssertion( "MIM:PS251300"^^xsd:string) AnnotationAssertion( "NCI:C132195"^^xsd:string) AnnotationAssertion( "ORDO:2065"^^xsd:string) AnnotationAssertion( "CAMOS"^^xsd:string) AnnotationAssertion( "GAMOS"^^xsd:string) AnnotationAssertion( "Galloway syndrome"^^xsd:string) AnnotationAssertion( "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities"^^xsd:string) AnnotationAssertion( "microcephaly, hiatal hernia and nephrotic syndrome"^^xsd:string) AnnotationAssertion( "microcephaly, hiatus hernia, and nephrotic syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-microcephaly syndrome"^^xsd:string) AnnotationAssertion( "nephrosis-neuronal dysmigration syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080694"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Burn-McKeown syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK373577/"^^xsd:string) "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608572"^^xsd:string) AnnotationAssertion( "GARD:10041"^^xsd:string) AnnotationAssertion( "MESH:C537411"^^xsd:string) AnnotationAssertion( "ORDO:1200"^^xsd:string) AnnotationAssertion( "BMKS"^^xsd:string) AnnotationAssertion( "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance"^^xsd:string) AnnotationAssertion( "choanal atresia - deafness - cardiac defects - dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080695"^^xsd:string) AnnotationAssertion(rdfs:label "Burn-McKeown syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Winchester syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/winchester-syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29741626/"^^xsd:string) "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7894"^^xsd:string) AnnotationAssertion( "MESH:C536709"^^xsd:string) AnnotationAssertion( "MIM:277950"^^xsd:string) AnnotationAssertion( "MONDO:0010201"^^xsd:string) AnnotationAssertion( "NCI:C170731"^^xsd:string) AnnotationAssertion( "WNCHRS"^^xsd:string) AnnotationAssertion( "Winchester disease"^^xsd:string) AnnotationAssertion( "Winchester-Grossman disease"^^xsd:string) AnnotationAssertion( "Winchester-Grossman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080696"^^xsd:string) AnnotationAssertion(rdfs:label "Winchester syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Opitz GBBB syndrome) AnnotationAssertion(Annotation( "http://www.genome.jp/dbget-bin/www_bget?ds:H00583"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1327/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1523/"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/15558842/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1327/"^^xsd:string) "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0050780"^^xsd:string) AnnotationAssertion( "MIM:300000"^^xsd:string) AnnotationAssertion( "GARD:193"^^xsd:string) AnnotationAssertion( "MESH:C567932"^^xsd:string) AnnotationAssertion( "NCI:C125487"^^xsd:string) AnnotationAssertion( "BBBG1"^^xsd:string) AnnotationAssertion( "GBBB syndrome"^^xsd:string) AnnotationAssertion( "GBBB1"^^xsd:string) AnnotationAssertion( "OGS1"^^xsd:string) AnnotationAssertion( "OS"^^xsd:string) AnnotationAssertion( "OSX"^^xsd:string) AnnotationAssertion( "Opitz BBB-G syndrome"^^xsd:string) AnnotationAssertion( "Opitz BBBG syndrome"^^xsd:string) AnnotationAssertion( "Opitz BBBG syndrome, type I"^^xsd:string) AnnotationAssertion( "Opitz G/BBB syndrome"^^xsd:string) AnnotationAssertion( "Opitz GBBB syndrome type I"^^xsd:string) AnnotationAssertion( "Opitz GBBB syndrome, X-linked"^^xsd:string) AnnotationAssertion( "Opitz Syndrome"^^xsd:string) AnnotationAssertion( "Opitz-G syndrome, type I"^^xsd:string) AnnotationAssertion( "X-linked Opitz syndrome"^^xsd:string) AnnotationAssertion( "X-linked Opitz syndrome (XLOS)"^^xsd:string) AnnotationAssertion( "hypertelorism with esophageal abnormalities and hypospadias"^^xsd:string) AnnotationAssertion( "hypertelorism with esophageal abnormality and hypospadias"^^xsd:string) AnnotationAssertion( "hypertelorism-hypospadias sydrome"^^xsd:string) AnnotationAssertion( "telecanthus-hypospadias syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080697"^^xsd:string) AnnotationAssertion(rdfs:label "Opitz GBBB syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Teebi hypertelorism syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25412741/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30472488/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31953237/"^^xsd:string) "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-05T15:44:29Z"^^xsd:string) AnnotationAssertion( "DOID:9003103"^^xsd:string) AnnotationAssertion( "SPECC1L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C538387"^^xsd:string) AnnotationAssertion( "MIM:145420"^^xsd:string) AnnotationAssertion( "ORDO:1519"^^xsd:string) AnnotationAssertion( "BBB syndrome"^^xsd:string) AnnotationAssertion( "G SYNDROME"^^xsd:string) AnnotationAssertion( "GBBB2"^^xsd:string) AnnotationAssertion( "Hypospadias-Dysphagia Syndrome"^^xsd:string) AnnotationAssertion( "OGS2"^^xsd:string) AnnotationAssertion( "Opitz BBB Syndrome"^^xsd:string) AnnotationAssertion( "Opitz G syndrome"^^xsd:string) AnnotationAssertion( "Opitz GBBB syndrome type II"^^xsd:string) AnnotationAssertion( "Opitz GBBB syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Opitz oculogenitolaryngeal syndrome, type II"^^xsd:string) AnnotationAssertion( "Opitz-Frias syndrome"^^xsd:string) AnnotationAssertion( "Opitz-G syndrome, type 2"^^xsd:string) AnnotationAssertion( "Opitz-G syndrome, type II"^^xsd:string) AnnotationAssertion( "SPECC1L-related hypertelorism syndrome"^^xsd:string) AnnotationAssertion( "TBHS1"^^xsd:string) AnnotationAssertion( "autosomal dominant Opitz syndrome (ADOS)"^^xsd:string) AnnotationAssertion( "chromosome 22q11.2 deletion syndrome, Opitz phenotype"^^xsd:string) AnnotationAssertion( "telecanthus with associated abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080698"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi hypertelorism syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glutathione synthetase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31198081/"^^xsd:string) "An amino acid metabolic disorder characterized by the lack of glutathione production. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10047"^^xsd:string) AnnotationAssertion( "MESH:C536835"^^xsd:string) AnnotationAssertion( "NCI:C128193"^^xsd:string) AnnotationAssertion( "5-oxoprolinemia"^^xsd:string) AnnotationAssertion( "5-oxoprolinuria"^^xsd:string) AnnotationAssertion( "GSSD"^^xsd:string) AnnotationAssertion( "INHERITED GLUTATHIONE SYNTHETASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "deficiency of glutathione synthase"^^xsd:string) AnnotationAssertion( "deficiency of glutathione synthetase"^^xsd:string) AnnotationAssertion( "pyroglutamic acidemia"^^xsd:string) AnnotationAssertion( "pyroglutamic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080699"^^xsd:string) AnnotationAssertion(rdfs:label "glutathione synthetase deficiency"^^xsd:string) SubClassOf( ) # Class: (caudal regression syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30574238"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/32200015"^^xsd:string) "A physical disorder that is characterized by impairment of the development of the lower half of the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600145"^^xsd:string) AnnotationAssertion( "MESH:C537221"^^xsd:string) AnnotationAssertion( "Hypoplasia of sacrum"^^xsd:string) AnnotationAssertion( "Lumbosacral agenesis"^^xsd:string) AnnotationAssertion( "Sacral Defect and Anterior Sacral Meningocele"^^xsd:string) AnnotationAssertion( "Sacral defect anterior meningocele"^^xsd:string) AnnotationAssertion( "agenesis of sacrum"^^xsd:string) AnnotationAssertion( "caudal dysgenesis syndrome"^^xsd:string) AnnotationAssertion( "caudal dysplasia sequence"^^xsd:string) AnnotationAssertion( "caudal regression sequence"^^xsd:string) AnnotationAssertion( "sacral defect with anterior meningocele"^^xsd:string) AnnotationAssertion( "SACRAL AGENESIS"^^xsd:string) AnnotationAssertion( "SDAM caudal dysgenesis syndrome"^^xsd:string) AnnotationAssertion( "sirenomelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080700"^^xsd:string) AnnotationAssertion(rdfs:label "caudal regression syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prothrombin thrombophilia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21707594/"^^xsd:string) "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T13:16:05Z"^^xsd:string) AnnotationAssertion( "MESH:C566755"^^xsd:string) AnnotationAssertion( "Prothrombin G20210a Thrombophilia"^^xsd:string) AnnotationAssertion( "hyperprothrombinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080701"^^xsd:string) AnnotationAssertion(rdfs:label "prothrombin thrombophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (medulloblastoma WNT activated) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29582169/"^^xsd:string) Annotation( "https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us"^^xsd:string) "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-23T10:15:56Z"^^xsd:string) AnnotationAssertion( "ICDO:9475/3"^^xsd:string) AnnotationAssertion( "NCI:C129440"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080702"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma WNT activated"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma SHH activated) AnnotationAssertion(Annotation( "https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29582169/"^^xsd:string) Annotation( "https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us"^^xsd:string) "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C129441"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080703"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma SHH activated"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma SHH activated and TP53 mutant) AnnotationAssertion(Annotation( "https://ascopubs.org/doi/10.1200/JCO.2012.48.5052"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/"^^xsd:string) "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9476/3"^^xsd:string) AnnotationAssertion( "NCI:C129442"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080704"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma SHH activated and TP53 mutant"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma SHH activated and TP53 wild-type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/"^^xsd:string) "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9471/3"^^xsd:string) AnnotationAssertion( "NCI:C129443"^^xsd:string) AnnotationAssertion( "Medulloblastoma SHH-Activated TP53-Wildtype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080705"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma SHH activated and TP53 wild-type"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma non-WNT/non-SHH) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30392813/"^^xsd:string) "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9477/3"^^xsd:string) AnnotationAssertion( "NCI:C129444"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080706"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma non-WNT/non-SHH"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma non-WNT/non-SHH group 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29427151/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30876441/"^^xsd:string) "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C129445"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080707"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma non-WNT/non-SHH group 3"^^xsd:string) SubClassOf( ) # Class: (medulloblastoma non-WNT/non-SHH group 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29427151/"^^xsd:string) "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C129446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080708"^^xsd:string) AnnotationAssertion(rdfs:label "medulloblastoma non-WNT/non-SHH group 4"^^xsd:string) SubClassOf( ) # Class: (NK cell deficiency) AnnotationAssertion(Annotation( "https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full"^^xsd:string) "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080709"^^xsd:string) AnnotationAssertion(rdfs:label "NK cell deficiency"^^xsd:string) SubClassOf( ) # Class: (T cell and NK cell immunodeficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31257346/"^^xsd:string) "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080710"^^xsd:string) AnnotationAssertion(rdfs:label "T cell and NK cell immunodeficiency"^^xsd:string) SubClassOf( ) # Class: (multisystem inflammatory syndrome in children) AnnotationAssertion(Annotation( "https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html"^^xsd:string) Annotation( "https://www.cdc.gov/mis-c/hcp/"^^xsd:string) Annotation( "https://www.cdc.gov/mis-c/index.html"^^xsd:string) Annotation( "https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x"^^xsd:string) "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-06T13:19:38Z"^^xsd:string) AnnotationAssertion( "MIS-C"^^xsd:string) AnnotationAssertion( "multisystem inflammatory disorder in children and adolescents"^^xsd:string) AnnotationAssertion( "paediatric inflammatory multisystemic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080711"^^xsd:string) AnnotationAssertion(rdfs:label "multisystem inflammatory syndrome in children"^^xsd:string) SubClassOf( ) # Class: (gene duplication disease) AnnotationAssertion(Annotation( "https://www.genome.gov/genetics-glossary/Duplication"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/"^^xsd:string) "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-17T13:10:35Z"^^xsd:string) AnnotationAssertion( "gene duplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080712"^^xsd:string) AnnotationAssertion(rdfs:label "gene duplication disease"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hereditary alpha tryptasemia syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27749843/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30007465/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome"^^xsd:string) Annotation( "https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq"^^xsd:string) "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080714"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary alpha tryptasemia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 82) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31422819/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618721"^^xsd:string) AnnotationAssertion( "DEE82"^^xsd:string) AnnotationAssertion( "EIEE82"^^xsd:string) AnnotationAssertion( "GOT2 deficiency"^^xsd:string) AnnotationAssertion( "deficiency of mitochondrial glutamate oxaloacetate transaminase"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080715"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 82"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infantile liver failure syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/13114/disease"^^xsd:string) "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-27T12:02:54Z"^^xsd:string) AnnotationAssertion( "MIM:PS615438"^^xsd:string) AnnotationAssertion( "ORDO:370088"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080716"^^xsd:string) AnnotationAssertion(rdfs:label "infantile liver failure syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile liver failure syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22607940/"^^xsd:string) "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13114"^^xsd:string) AnnotationAssertion( "MIM:615438"^^xsd:string) AnnotationAssertion( "ILFS1"^^xsd:string) AnnotationAssertion( "LARS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "acute infantile liver failure-multisystemic involvement syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080717"^^xsd:string) AnnotationAssertion(rdfs:label "infantile liver failure syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GNE myopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29720219/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30338442/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/gne-myopathy/"^^xsd:string) Annotation( "https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy"^^xsd:string) "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538329"^^xsd:string) AnnotationAssertion( "MIM:605820"^^xsd:string) AnnotationAssertion( "GARD:9493"^^xsd:string) AnnotationAssertion( "MESH:C536816"^^xsd:string) AnnotationAssertion( "NCI:C176900"^^xsd:string) AnnotationAssertion( "ORDO:602"^^xsd:string) AnnotationAssertion( "DMRV"^^xsd:string) AnnotationAssertion( "IBM2"^^xsd:string) AnnotationAssertion( "NM"^^xsd:string) AnnotationAssertion( "Nonaka distal myopathy"^^xsd:string) AnnotationAssertion( "Nonaka myopathy"^^xsd:string) AnnotationAssertion( "QSM"^^xsd:string) AnnotationAssertion( "distal myopathy, Nonaka type"^^xsd:string) AnnotationAssertion( "inclusion body myopathy 2"^^xsd:string) AnnotationAssertion( "inclusion body myopathy 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "inclusion body myopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "inclusion body myopathy, hereditary, autosomal recessive"^^xsd:string) AnnotationAssertion( "inclusion body myopathy, quadriceps sparing"^^xsd:string) AnnotationAssertion( "rimmed vacuole myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080718"^^xsd:string) AnnotationAssertion(rdfs:label "GNE myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24193343/"^^xsd:string) "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538330"^^xsd:string) AnnotationAssertion( "MESH:C565311"^^xsd:string) AnnotationAssertion( "GARD:9494"^^xsd:string) AnnotationAssertion( "MIM:605637"^^xsd:string) AnnotationAssertion( "ORDO:79091"^^xsd:string) AnnotationAssertion( "CMYP6"^^xsd:string) AnnotationAssertion( "IBM3"^^xsd:string) AnnotationAssertion( "INCLUSION BODY MYOPATHY, DOMINANT"^^xsd:string) AnnotationAssertion( "MYPOP"^^xsd:string) AnnotationAssertion( "congenital myopathy 6 with ophthalmoplegia"^^xsd:string) AnnotationAssertion( "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"^^xsd:string) AnnotationAssertion( "inclusion body myopathy 3"^^xsd:string) AnnotationAssertion( "inclusion body myopathy 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "inclusion body myopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles"^^xsd:string) AnnotationAssertion( "proximal myopathy and ophthalmoplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080719"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant congenital deafness with onychodystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28396750/"^^xsd:string) "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T14:42:54Z"^^xsd:string) AnnotationAssertion( "MIM:124480"^^xsd:string) AnnotationAssertion( "GARD:4732"^^xsd:string) AnnotationAssertion( "MESH:C567274"^^xsd:string) AnnotationAssertion( "NCI:C175240"^^xsd:string) AnnotationAssertion( "DDOD"^^xsd:string) AnnotationAssertion( "DDOD syndrome"^^xsd:string) AnnotationAssertion( "congenital deafness, and onychodystrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080720"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant congenital deafness with onychodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (calvarial doughnut lesions with bone fragility) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/"^^xsd:string) "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-28T13:07:19Z"^^xsd:string) AnnotationAssertion( "MIM:126550"^^xsd:string) AnnotationAssertion( "MESH:C565089"^^xsd:string) AnnotationAssertion( "ORDO:85192"^^xsd:string) AnnotationAssertion( "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY WITH OR WITHOUT SPONDYLOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "CDL"^^xsd:string) AnnotationAssertion( "familial doughnut lesions of skull"^^xsd:string) AnnotationAssertion( "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080721"^^xsd:string) AnnotationAssertion(rdfs:label "calvarial doughnut lesions with bone fragility"^^xsd:string) SubClassOf( ) # Class: (Kenny-Caffey syndrome type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9806825/"^^xsd:string) "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-06T11:01:04Z"^^xsd:string) AnnotationAssertion( "MIM:244460"^^xsd:string) AnnotationAssertion( "GARD:8367"^^xsd:string) AnnotationAssertion( "MESH:C537021"^^xsd:string) AnnotationAssertion( "ORDO:93324"^^xsd:string) AnnotationAssertion( "KCS1"^^xsd:string) AnnotationAssertion( "Kenny-Caffey syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "Kenny-Caffey syndrome, autosomal recessive form"^^xsd:string) AnnotationAssertion( "Kenny-Caffey syndrome, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080722"^^xsd:string) AnnotationAssertion(rdfs:label "Kenny-Caffey syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kenny-Caffey syndrome type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23996431/"^^xsd:string) "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:127000"^^xsd:string) AnnotationAssertion( "FAM111A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:83"^^xsd:string) AnnotationAssertion( "MESH:C537020"^^xsd:string) AnnotationAssertion( "MONDO:0007478"^^xsd:string) AnnotationAssertion( "ORDO:93325"^^xsd:string) AnnotationAssertion( "KCS2"^^xsd:string) AnnotationAssertion( "Kenny syndrome"^^xsd:string) AnnotationAssertion( "Kenny-Caffey syndrome 2"^^xsd:string) AnnotationAssertion( "autosomal dominant Kenny-Caffey syndrome"^^xsd:string) AnnotationAssertion( "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080723"^^xsd:string) AnnotationAssertion(rdfs:label "Kenny-Caffey syndrome type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kenny-Caffey syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome"^^xsd:string) "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS127000"^^xsd:string) AnnotationAssertion( "ORDO:2333"^^xsd:string) AnnotationAssertion( "KCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080724"^^xsd:string) AnnotationAssertion(rdfs:label "Kenny-Caffey syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BASAN syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8340514/"^^xsd:string) "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "MIM:129200"^^xsd:string) AnnotationAssertion( "GARD:2336"^^xsd:string) AnnotationAssertion( "MESH:C537659"^^xsd:string) AnnotationAssertion( "ORDO:1658"^^xsd:string) AnnotationAssertion( "ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia, absent dermatoglyphics"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080725"^^xsd:string) AnnotationAssertion(rdfs:label "BASAN syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome classic type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22696272/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130010"^^xsd:string) AnnotationAssertion( "MESH:C536195"^^xsd:string) AnnotationAssertion( "NCI:C125697"^^xsd:string) AnnotationAssertion( "COL5A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EDS II"^^xsd:string) AnnotationAssertion( "EDS2"^^xsd:string) AnnotationAssertion( "EDSCL2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome Type 2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type 2 Atypical"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type II"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, MITIS type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, mild classic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080726"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome classic type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome arthrochalasia type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18409203/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130060"^^xsd:string) AnnotationAssertion( "MESH:C562625"^^xsd:string) AnnotationAssertion( "Arthrochalasis Multiplex Congenita"^^xsd:string) AnnotationAssertion( "EDS VII, Mutant Procollagen Type"^^xsd:string) AnnotationAssertion( "EDS VIIA"^^xsd:string) AnnotationAssertion( "EDS7A"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type VII, autosomal dominant"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, arthrochalasia type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, type 7A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080727"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome arthrochalasia type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18409203/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9004487"^^xsd:string) AnnotationAssertion( "MESH:C565061"^^xsd:string) AnnotationAssertion( "MIM:617821"^^xsd:string) AnnotationAssertion( "EDS VIIB"^^xsd:string) AnnotationAssertion( "EDS7B"^^xsd:string) AnnotationAssertion( "EDSARTH2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type VIIB, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080728"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome arthrochalasia type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brittle cornea syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614170"^^xsd:string) AnnotationAssertion( "BCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080729"^^xsd:string) AnnotationAssertion(rdfs:label "brittle cornea syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome cardiac valvular type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16816023/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225320"^^xsd:string) AnnotationAssertion( "MESH:C536200"^^xsd:string) AnnotationAssertion( "EDSCV"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Arthrochalasis Type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, cardiac valvular form"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive"^^xsd:string) AnnotationAssertion( "cardiac valvular form of Ehlers-Danlos syndrome"^^xsd:string) AnnotationAssertion( "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080730"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome cardiac valvular type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome classic-like 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606408"^^xsd:string) AnnotationAssertion( "TNXB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536193"^^xsd:string) AnnotationAssertion( "EDS due to TNX deficiency"^^xsd:string) AnnotationAssertion( "EDSCLL"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome due to tenascin-X deficiency"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, classic-like"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos-like syndrome due to tenascin-X deficiency"^^xsd:string) AnnotationAssertion( "TNX deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080731"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome classic-like 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome classic-like 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618000"^^xsd:string) AnnotationAssertion( "EDSCLL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080732"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome classic-like 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome dermatosparaxis type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:225410"^^xsd:string) AnnotationAssertion( "MESH:C567527"^^xsd:string) AnnotationAssertion( "EDS VIIC"^^xsd:string) AnnotationAssertion( "EDS7C"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type VII, autosomal recessive"^^xsd:string) AnnotationAssertion( "dermatosparaxis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080733"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome dermatosparaxis type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome kyphoscoliotic type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-11T16:46:42Z"^^xsd:string) AnnotationAssertion( "MESH:C536113"^^xsd:string) AnnotationAssertion( "MESH:C536198"^^xsd:string) AnnotationAssertion( "MIM:225400"^^xsd:string) AnnotationAssertion( "EDS VI"^^xsd:string) AnnotationAssertion( "EDS6"^^xsd:string) AnnotationAssertion( "EDS6A"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME, HYDROXYLYSINE-DEFICIENT"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome Type 6"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type VI"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type VIA"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, kyphoscoliotic type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, oculoscoliotic type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, type 6 A"^^xsd:string) AnnotationAssertion( "Nevo syndrome"^^xsd:string) AnnotationAssertion( "cerebral gigantism nevo type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080734"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome kyphoscoliotic type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614557"^^xsd:string) AnnotationAssertion( "EDSKMH"^^xsd:string) AnnotationAssertion( "EDSKSCL2"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080735"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome kyphoscoliotic type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome musculocontractural type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-22T10:15:03Z"^^xsd:string) AnnotationAssertion( "MIM:601776"^^xsd:string) AnnotationAssertion( "MESH:C000600608"^^xsd:string) AnnotationAssertion( "NCI:C168975"^^xsd:string) AnnotationAssertion( "ATCS"^^xsd:string) AnnotationAssertion( "Dundar syndrome"^^xsd:string) AnnotationAssertion( "EDS6B (formerly)"^^xsd:string) AnnotationAssertion( "EDSMC"^^xsd:string) AnnotationAssertion( "EDSMC1"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, type VIB (formerly)"^^xsd:string) AnnotationAssertion( "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome"^^xsd:string) AnnotationAssertion( "adducted thumb-clubfoot syndrome"^^xsd:string) AnnotationAssertion( "adducted thumbs Dundar type"^^xsd:string) AnnotationAssertion( "distal arthrogryposis with peculiar facies and hydronephrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080736"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome musculocontractural type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome musculocontractural type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-14T14:19:19Z"^^xsd:string) AnnotationAssertion( "MIM:615539"^^xsd:string) AnnotationAssertion( "EDSMC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080737"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome musculocontractural type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome spondylodysplastic type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23956117/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130070"^^xsd:string) AnnotationAssertion( "MESH:C536201"^^xsd:string) AnnotationAssertion( "EDSP1"^^xsd:string) AnnotationAssertion( "EDSSLA"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Progeroid Type, 1"^^xsd:string) AnnotationAssertion( "Galactosyltransferase 1 deficiency"^^xsd:string) AnnotationAssertion( "Galactosyltransferase I Deficiency"^^xsd:string) AnnotationAssertion( "XGPT deficiency"^^xsd:string) AnnotationAssertion( "defective biosynthesis of PDS"^^xsd:string) AnnotationAssertion( "defective biosynthesis of proteodermatan sulfate"^^xsd:string) AnnotationAssertion( "dermatan sulfate proteoglycan"^^xsd:string) AnnotationAssertion( "xylosylprotein 4-beta-galactosyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080738"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome spondylodysplastic type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18513683/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002616"^^xsd:string) AnnotationAssertion( "MIM:612350"^^xsd:string) AnnotationAssertion( "MESH:C567340"^^xsd:string) AnnotationAssertion( "SCD-EDS"^^xsd:string) AnnotationAssertion( "SCDEDS"^^xsd:string) AnnotationAssertion( "spondylocheirodysplasia, Ehlers-Danlos syndrome-like"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080739"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome spondylodysplastic type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Libman-Sacks endocarditis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25807885/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30422459/"^^xsd:string) "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T12:06:27Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M32.11"^^xsd:string) AnnotationAssertion( "Libmann–Sachs, Endocarditis in systemic lupus erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080740"^^xsd:string) AnnotationAssertion(rdfs:label "Libman-Sacks endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (limbic encephalitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/"^^xsd:string) "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000429"^^xsd:string) AnnotationAssertion( "MESH:C531729"^^xsd:string) AnnotationAssertion( "GARD:8742"^^xsd:string) AnnotationAssertion( "MESH:D020363"^^xsd:string) AnnotationAssertion( "autoimmune limbic encephalitis"^^xsd:string) AnnotationAssertion( "paraneoplastic limbic encephalitides"^^xsd:string) AnnotationAssertion( "paraneoplastic limbic encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080741"^^xsd:string) AnnotationAssertion(rdfs:label "limbic encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autoimmune cholangitis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15560034/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25374727/"^^xsd:string) "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-18T11:50:33Z"^^xsd:string) AnnotationAssertion( "autoimmune cholangiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080742"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune cholangitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transverse myelitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726"^^xsd:string) Annotation( "https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/transverse-myelitis-fact-sheet"^^xsd:string) "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D009188"^^xsd:string) AnnotationAssertion( "Demyelinative Myelitis"^^xsd:string) AnnotationAssertion( "Necrotizing Myelitis"^^xsd:string) AnnotationAssertion( "Paraneoplastic Myelitis"^^xsd:string) AnnotationAssertion( "Postinfectious Myelitis"^^xsd:string) AnnotationAssertion( "Postvaccinal Myelitis"^^xsd:string) AnnotationAssertion( "Subacute Transverse Myelitis"^^xsd:string) AnnotationAssertion( "acute transverse myelitis"^^xsd:string) AnnotationAssertion( "subacute transverse myelitides"^^xsd:string) AnnotationAssertion( "transverse myelopathy syndrome"^^xsd:string) AnnotationAssertion( "transverse myelopathy syndromes"^^xsd:string) AnnotationAssertion( "IDIOPATHIC TRANSVERSE MYELITIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080743"^^xsd:string) AnnotationAssertion(rdfs:label "transverse myelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (antisynthetase syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Antisynthetase_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27594777/"^^xsd:string) "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001982"^^xsd:string) AnnotationAssertion( "GARD:735"^^xsd:string) AnnotationAssertion( "MESH:C537778"^^xsd:string) AnnotationAssertion( "ORDO:81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080744"^^xsd:string) AnnotationAssertion(rdfs:label "antisynthetase syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polymyositis) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/12053-polymyositis"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208"^^xsd:string) "A myositis that is characterized by muscle weakness affecting both sides of your body. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9007919"^^xsd:string) AnnotationAssertion( "EFO:0003063"^^xsd:string) AnnotationAssertion( "EFO:1001988"^^xsd:string) AnnotationAssertion( "EFO:1001994"^^xsd:string) AnnotationAssertion( "GARD:7425"^^xsd:string) AnnotationAssertion( "MESH:D017285"^^xsd:string) AnnotationAssertion( "Multiple Myositis"^^xsd:string) AnnotationAssertion( "Myositides, Multiple"^^xsd:string) AnnotationAssertion( "idiopathic polymyositides"^^xsd:string) AnnotationAssertion( "idiopathic polymyositis"^^xsd:string) AnnotationAssertion( "polymyositides"^^xsd:string) AnnotationAssertion( "polymyositis ossificans"^^xsd:string) AnnotationAssertion( "Juvenile Polymyositis"^^xsd:string) AnnotationAssertion( "Scleroderma Polymyositis Overlap Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080745"^^xsd:string) AnnotationAssertion(rdfs:label "polymyositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sweet syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17655751/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/sweet-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK431050/"^^xsd:string) "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T14:06:53Z"^^xsd:string) AnnotationAssertion( "MEFV-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:521"^^xsd:string) AnnotationAssertion( "MESH:D016463"^^xsd:string) AnnotationAssertion( "MIM:608068"^^xsd:string) AnnotationAssertion( "MONDO:0011959"^^xsd:string) AnnotationAssertion( "AFND"^^xsd:string) AnnotationAssertion( "Gomm-Button disease"^^xsd:string) AnnotationAssertion( "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE"^^xsd:string) AnnotationAssertion( "PAAND"^^xsd:string) AnnotationAssertion( "SS"^^xsd:string) AnnotationAssertion( "Sweet's syndrome"^^xsd:string) AnnotationAssertion( "Sweets syndrome"^^xsd:string) AnnotationAssertion( "acute febrile neutrophilic dermatosis"^^xsd:string) AnnotationAssertion( "pyrin-associated autoinflammatory disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080746"^^xsd:string) AnnotationAssertion(rdfs:label "Sweet syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic urticaria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30033911/"^^xsd:string) "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000080223"^^xsd:string) AnnotationAssertion( "autoimmune urticaria"^^xsd:string) AnnotationAssertion( "chronic autoimmune urticaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080747"^^xsd:string) AnnotationAssertion(rdfs:label "chronic urticaria"^^xsd:string) SubClassOf( ) # Class: (chronic inducible urticaria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/"^^xsd:string) "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "CIndU"^^xsd:string) AnnotationAssertion( "chronic inducible urticarias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080748"^^xsd:string) AnnotationAssertion(rdfs:label "chronic inducible urticaria"^^xsd:string) SubClassOf( ) # Class: (chronic spontaneous urticaria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14501436/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28671445/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/"^^xsd:string) "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T12:34:20Z"^^xsd:string) AnnotationAssertion( "chronic idiopathic urticaria"^^xsd:string) AnnotationAssertion( "chronic spontaneous urticarias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080749"^^xsd:string) AnnotationAssertion(rdfs:label "chronic spontaneous urticaria"^^xsd:string) SubClassOf( ) # Class: (erythema nodosum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erythema_nodosum"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30269303/"^^xsd:string) "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D004893"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080750"^^xsd:string) AnnotationAssertion(rdfs:label "erythema nodosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (keratosis pilaris atrophicans) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26142438/"^^xsd:string) "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:604093"^^xsd:string) AnnotationAssertion( "KPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080751"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis pilaris atrophicans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratosis pilaris atrophicans faciei) AnnotationAssertion(Annotation( "https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/"^^xsd:string) "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080752"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis pilaris atrophicans faciei"^^xsd:string) SubClassOf( ) # Class: (keratosis follicularis spinulosa decalvans) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/"^^xsd:string) "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:2340"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080753"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis follicularis spinulosa decalvans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked keratosis follicularis spinulosa decalvans) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18984066/"^^xsd:string) "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:308800"^^xsd:string) AnnotationAssertion( "GARD:6829"^^xsd:string) AnnotationAssertion( "MESH:C536159"^^xsd:string) AnnotationAssertion( "KFSDX"^^xsd:string) AnnotationAssertion( "keratosis follicularis spinulosa decalvans cum ophiasi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080754"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked keratosis follicularis spinulosa decalvans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant keratosis follicularis spinulosa decalvans) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18984066/"^^xsd:string) "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612843"^^xsd:string) AnnotationAssertion( "MESH:C567553"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080755"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant keratosis follicularis spinulosa decalvans"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrophoderma vermiculata) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19326693/"^^xsd:string) "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9744"^^xsd:string) AnnotationAssertion( "MIM:209700"^^xsd:string) AnnotationAssertion( "ORDO:79100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080756"^^xsd:string) AnnotationAssertion(rdfs:label "atrophoderma vermiculata"^^xsd:string) SubClassOf( ) # Class: (Fanconi renotubular syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11090339/"^^xsd:string) "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GATM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:134600"^^xsd:string) AnnotationAssertion( "FRTS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080757"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi renotubular syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi renotubular syndrome 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/SLC34A1"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26047794/"^^xsd:string) "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-17T14:06:11Z"^^xsd:string) AnnotationAssertion( "MIM:613388"^^xsd:string) AnnotationAssertion( "FRTS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080758"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi renotubular syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi renotubular syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24401050/"^^xsd:string) "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615605"^^xsd:string) AnnotationAssertion( "EHHADH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FRTS3"^^xsd:string) AnnotationAssertion( "Fanconi syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080759"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi renotubular syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi renotubular syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24285859/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31875549/"^^xsd:string) "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616026"^^xsd:string) AnnotationAssertion( "FRTS4"^^xsd:string) AnnotationAssertion( "FRTS4 with MOD"^^xsd:string) AnnotationAssertion( "FRTS4 with MODY"^^xsd:string) AnnotationAssertion( "Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080760"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi renotubular syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fanconi renotubular syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27466185/"^^xsd:string) "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-09T15:35:57Z"^^xsd:string) AnnotationAssertion( "MIM:618913"^^xsd:string) AnnotationAssertion( "Acadian-variant Fanconi syndrome"^^xsd:string) AnnotationAssertion( "FRTS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080761"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi renotubular syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2Z) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27807076/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31897643/"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "POGLUT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617232"^^xsd:string) AnnotationAssertion( "NCI:C142082"^^xsd:string) AnnotationAssertion( "ORDO:480682"^^xsd:string) AnnotationAssertion( "LGMD type 2Z"^^xsd:string) AnnotationAssertion( "LGMD2Z"^^xsd:string) AnnotationAssertion( "LGMDR21"^^xsd:string) AnnotationAssertion( "POGLUT1-related LGMD R21"^^xsd:string) AnnotationAssertion( "POGLUT1-related limb-girdle muscular dystrophy R21"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy 21"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080762"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Z"^^xsd:string) SubClassOf( ) # Class: (diffuse gastric cancer) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer"^^xsd:string) "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10334"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080763"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse gastric cancer"^^xsd:string) SubClassOf( ) # Class: (hereditary diffuse gastric cancer) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20591882/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10900/disease"^^xsd:string) "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10900"^^xsd:string) AnnotationAssertion( "MIM:137215"^^xsd:string) AnnotationAssertion( "CDH1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME"^^xsd:string) AnnotationAssertion( "DGLBC"^^xsd:string) AnnotationAssertion( "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME"^^xsd:string) AnnotationAssertion( "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR"^^xsd:string) AnnotationAssertion( "HDGC"^^xsd:string) AnnotationAssertion( "LBC"^^xsd:string) AnnotationAssertion( "familial diffuse gastric cancer"^^xsd:string) AnnotationAssertion( "hereditary diffuse gastric cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE"^^xsd:string) AnnotationAssertion( "DOID:0080764"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary diffuse gastric cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 72) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29302074/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31564433/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010654"^^xsd:string) AnnotationAssertion( "MIM:618665"^^xsd:string) AnnotationAssertion( "MRT72"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080765"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 72"^^xsd:string) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30528822/"^^xsd:string) "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-16T08:12:53Z"^^xsd:string) AnnotationAssertion( "TRPM4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TRPM4-related disorder"^^xsd:string) AnnotationAssertion( "MIM:618531"^^xsd:string) AnnotationAssertion( "EKVP6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080766"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune myocarditis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/"^^xsd:string) "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080767"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune myocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyridoxine-dependent epilepsy) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/"^^xsd:string) "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9298"^^xsd:string) AnnotationAssertion( "MESH:C536254"^^xsd:string) AnnotationAssertion( "ORDO:3006"^^xsd:string) AnnotationAssertion( "EPD"^^xsd:string) AnnotationAssertion( "PDE"^^xsd:string) AnnotationAssertion( "pyridoxine dependency"^^xsd:string) AnnotationAssertion( "pyridoxine dependency with seizures"^^xsd:string) AnnotationAssertion( "pyridoxine-dependent seizures"^^xsd:string) AnnotationAssertion( "vitamin B6-dependent seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080768"^^xsd:string) AnnotationAssertion(rdfs:label "pyridoxine-dependent epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (early-onset vitamin B6-dependent epilepsy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27912044/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30668673/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK589231/"^^xsd:string) "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "early-onset vitamin B6-dependent epilepsy"^^xsd:string) AnnotationAssertion( "MIM:617290"^^xsd:string) AnnotationAssertion( "EPEO1"^^xsd:string) AnnotationAssertion( "EPVB6D"^^xsd:string) AnnotationAssertion( "PDE-PLPBP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080769"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset vitamin B6-dependent epilepsy 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant beta thalassemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1971109/"^^xsd:string) "A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T13:48:03Z"^^xsd:string) AnnotationAssertion( "MESH:C565834"^^xsd:string) AnnotationAssertion( "MIM:603902"^^xsd:string) AnnotationAssertion( "MONDO:0011381"^^xsd:string) AnnotationAssertion( "beta thalassemia, dominant inclusion body type"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia, Irish or Weatherall type"^^xsd:string) AnnotationAssertion( "inclusion body beta-thalassemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080770"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant beta thalassemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beta-thalassemia major) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12480689/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19258591"^^xsd:string) "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:187550"^^xsd:string) AnnotationAssertion( "MESH:C566065"^^xsd:string) AnnotationAssertion( "NCI:C129699"^^xsd:string) AnnotationAssertion( "ORDO:231214"^^xsd:string) AnnotationAssertion( "BETA-KNOSSOS-THALASSEMIA"^^xsd:string) AnnotationAssertion( "Beta-Plus-Thalassemia"^^xsd:string) AnnotationAssertion( "Beta-Showa-Yakushiji Thalassemia"^^xsd:string) AnnotationAssertion( "Cooley anemia"^^xsd:string) AnnotationAssertion( "Cooley's Anemia"^^xsd:string) AnnotationAssertion( "Cooleys anemia"^^xsd:string) AnnotationAssertion( "Thalassemia Major"^^xsd:string) AnnotationAssertion( "beta+ thalassemia, silent allele"^^xsd:string) AnnotationAssertion( "beta-E-thalassemia"^^xsd:string) AnnotationAssertion( "beta-thal/Hb E"^^xsd:string) AnnotationAssertion( "beta-thalassemia hemoglobin E"^^xsd:string) AnnotationAssertion( "thalassemia major (beta thalassemia major)"^^xsd:string) AnnotationAssertion( "BETA-PLUS-THALASSEMIA, DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Double heterozygous for Hb E and beta thalassaemia"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN CAGLIARI"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DHOFAR"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DHONBURI"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN KNOSSOS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MALAY"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN NEAPOLIS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN NORTH SHORE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN NORTH SHORE-CARACAS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN TERRE HAUTE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN YUKUHASHI"^^xsd:string) AnnotationAssertion( "Hemoglobin E"^^xsd:string) AnnotationAssertion( "Hemoglobin Showa-Yakushiji"^^xsd:string) AnnotationAssertion( "DOID:0080771"^^xsd:string) AnnotationAssertion(rdfs:label "beta-thalassemia major"^^xsd:string) SubClassOf( ) # Class: (beta-thalassemia intermedia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string) "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:231222"^^xsd:string) AnnotationAssertion( "thalassemia intermedia"^^xsd:string) AnnotationAssertion( "thalassemia intermedias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080772"^^xsd:string) AnnotationAssertion(rdfs:label "beta-thalassemia intermedia"^^xsd:string) SubClassOf( ) # Class: (delta beta-thalassemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30706898/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31444804/"^^xsd:string) "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:141749"^^xsd:string) AnnotationAssertion( "MESH:C562716"^^xsd:string) AnnotationAssertion( "NCI:C172823"^^xsd:string) AnnotationAssertion( "ORDO:231237"^^xsd:string) AnnotationAssertion( "DELTA-PLUS-THALASSEMIA"^^xsd:string) AnnotationAssertion( "DELTA/BETA THALESSEMIA"^^xsd:string) AnnotationAssertion( "FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN"^^xsd:string) AnnotationAssertion( "Greek HPFH"^^xsd:string) AnnotationAssertion( "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN"^^xsd:string) AnnotationAssertion( "HPFH"^^xsd:string) AnnotationAssertion( "Sardinian HPFH"^^xsd:string) AnnotationAssertion( "hereditary persistence of fetal hemoglobin, HB gene cluster-related"^^xsd:string) AnnotationAssertion( "hereditary persistence of hemoglobin F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "British HPFH"^^xsd:string) AnnotationAssertion( "THALASSEMIA, GAMMA-DELTA-BETA"^^xsd:string) AnnotationAssertion( "DOID:0080773"^^xsd:string) AnnotationAssertion(rdfs:label "delta beta-thalassemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thalassemia minor) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance"^^xsd:string) "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-25T10:35:58Z"^^xsd:string) AnnotationAssertion( "Thalassemia Minor (beta Thalassemia Minor)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080774"^^xsd:string) AnnotationAssertion(rdfs:label "thalassemia minor"^^xsd:string) SubClassOf( ) # Class: (complete androgen insensitivity syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome"^^xsd:string) "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E34.51"^^xsd:string) AnnotationAssertion( "ORDO:99429"^^xsd:string) AnnotationAssertion( "complete androgen-insensitivity syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080775"^^xsd:string) AnnotationAssertion(rdfs:label "complete androgen insensitivity syndrome"^^xsd:string) SubClassOf( ) # Class: (partial androgen insensitivity syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26303084/"^^xsd:string) "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5692"^^xsd:string) AnnotationAssertion( "MIM:312300"^^xsd:string) AnnotationAssertion( "NCI:C120192"^^xsd:string) AnnotationAssertion( "ORDO:90797"^^xsd:string) AnnotationAssertion( "ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER"^^xsd:string) AnnotationAssertion( "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1"^^xsd:string) AnnotationAssertion( "PAIS"^^xsd:string) AnnotationAssertion( "Partial Androgen Insensitivities"^^xsd:string) AnnotationAssertion( "Partial Androgen Insensitivity"^^xsd:string) AnnotationAssertion( "Partial Androgen-Insensitivity Syndromes"^^xsd:string) AnnotationAssertion( "Reifenstein Syndrome"^^xsd:string) AnnotationAssertion( "Reifenstein's Syndrome"^^xsd:string) AnnotationAssertion( "Reifensteins Syndrome"^^xsd:string) AnnotationAssertion( "ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080776"^^xsd:string) AnnotationAssertion(rdfs:label "partial androgen insensitivity syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung sarcomatoid carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28081478/"^^xsd:string) "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000336"^^xsd:string) AnnotationAssertion( "NCI:C45540"^^xsd:string) AnnotationAssertion( "pulmonary sarcomatoid carcinoma"^^xsd:string) AnnotationAssertion( "sarcomatoid carcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080777"^^xsd:string) AnnotationAssertion(rdfs:label "lung sarcomatoid carcinoma"^^xsd:string) SubClassOf( ) # Class: (transient infantile liver failure) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19732863/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21931168/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27689697/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/"^^xsd:string) "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "TRMU-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10593"^^xsd:string) AnnotationAssertion( "MIM:613070"^^xsd:string) AnnotationAssertion( "ORDO:217371"^^xsd:string) AnnotationAssertion( "LFIT"^^xsd:string) AnnotationAssertion( "transient recurrent infantile liver failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080778"^^xsd:string) AnnotationAssertion(rdfs:label "transient infantile liver failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plasmablastic lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/"^^xsd:string) "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9735/3"^^xsd:string) AnnotationAssertion( "MESH:D000069293"^^xsd:string) AnnotationAssertion( "MONDO:0017347"^^xsd:string) AnnotationAssertion( "NCI:C7224"^^xsd:string) AnnotationAssertion( "ORDO:289666"^^xsd:string) AnnotationAssertion( "Plasmablastic Diffuse Large B cell Lymphoma"^^xsd:string) AnnotationAssertion( "plasmablastic lymphomas"^^xsd:string) AnnotationAssertion( "plasmablasts diffuse large B cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080779"^^xsd:string) AnnotationAssertion(rdfs:label "plasmablastic lymphoma"^^xsd:string) SubClassOf( ) # Class: (acute erythroid leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acute_erythroid_leukemia"^^xsd:string) "An acute myeloid leukemia that is characterized by a predominant immature erythroid population. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9840/3"^^xsd:string) AnnotationAssertion( "NCI:C8923"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080780"^^xsd:string) AnnotationAssertion(rdfs:label "acute erythroid leukemia"^^xsd:string) SubClassOf( ) # Class: (benign exocrine pancreas neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613"^^xsd:string) "An endocrine organ benign neoplasm arising from the exocrine pancreas. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-09T14:40:19Z"^^xsd:string) AnnotationAssertion( "NCI:C4613"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080781"^^xsd:string) AnnotationAssertion(rdfs:label "benign exocrine pancreas neoplasm"^^xsd:string) SubClassOf( ) # Class: (mucinous pancreas adenocarcinoma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/s41598-018-24540-7"^^xsd:string) "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080782"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous pancreas adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (urinary tract infection) AnnotationAssertion(Annotation( "https://medlineplus.gov/urinarytractinfections.html"^^xsd:string) Annotation( "https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447"^^xsd:string) "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:603806"^^xsd:string) AnnotationAssertion( "EFO:0003103"^^xsd:string) AnnotationAssertion( "ICD10CM:N39.0"^^xsd:string) AnnotationAssertion( "MESH:D014552"^^xsd:string) AnnotationAssertion( "UTI"^^xsd:string) AnnotationAssertion( "urinary tract infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080784"^^xsd:string) AnnotationAssertion(rdfs:label "urinary tract infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brown-Vialetto-Van Laere syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20206331/"^^xsd:string) "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:211530"^^xsd:string) AnnotationAssertion( "NCI:C133724"^^xsd:string) AnnotationAssertion( "BVVLS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080785"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Vialetto-Van Laere syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brown-Vialetto-Van Laere syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20206331/"^^xsd:string) "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614707"^^xsd:string) AnnotationAssertion( "NCI:C183529"^^xsd:string) AnnotationAssertion( "BVVLS2"^^xsd:string) AnnotationAssertion( "RTD2"^^xsd:string) AnnotationAssertion( "riboflavin transporter deficiency, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080786"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Vialetto-Van Laere syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proximal symphalangism 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16353259/"^^xsd:string) "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:185800"^^xsd:string) AnnotationAssertion( "MONDO:0020733"^^xsd:string) AnnotationAssertion( "SYM1"^^xsd:string) AnnotationAssertion( "SYM1A"^^xsd:string) AnnotationAssertion( "proximal symphalangism, 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080787"^^xsd:string) AnnotationAssertion(rdfs:label "proximal symphalangism 1"^^xsd:string) SubClassOf( ) # Class: (proximal symphalangism 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16892395/"^^xsd:string) "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615298"^^xsd:string) AnnotationAssertion( "SYM1B"^^xsd:string) AnnotationAssertion( "proximal symphalangism, 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080788"^^xsd:string) AnnotationAssertion(rdfs:label "proximal symphalangism 2"^^xsd:string) SubClassOf( ) # Class: (Treacher Collins syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15340364/"^^xsd:string) "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T12:30:34Z"^^xsd:string) AnnotationAssertion( "MIM:154500"^^xsd:string) AnnotationAssertion( "TCOF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TCS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080789"^^xsd:string) AnnotationAssertion(rdfs:label "Treacher Collins syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Treacher Collins syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25790162/"^^xsd:string) "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613717"^^xsd:string) AnnotationAssertion( "TCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080790"^^xsd:string) AnnotationAssertion(rdfs:label "Treacher Collins syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Treacher Collins syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11013442/"^^xsd:string) "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:248390"^^xsd:string) AnnotationAssertion( "POLR1C-related disorder"^^xsd:string) AnnotationAssertion( "POLR1C-related disorders"^^xsd:string) AnnotationAssertion( "Treacher Collins syndrome, recessive"^^xsd:string) AnnotationAssertion( "MESH:C535707"^^xsd:string) AnnotationAssertion( "Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "TCS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080791"^^xsd:string) AnnotationAssertion(rdfs:label "Treacher Collins syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Treacher Collins syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31649276/"^^xsd:string) "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618939"^^xsd:string) AnnotationAssertion( "TCS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080792"^^xsd:string) AnnotationAssertion(rdfs:label "Treacher Collins syndrome 4"^^xsd:string) SubClassOf( ) # Class: (childhood acute megakaryoblastic leukemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28867167/"^^xsd:string) Annotation( "https://www.nature.com/articles/ng.3772"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/"^^xsd:string) "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001943"^^xsd:string) AnnotationAssertion( "NCI:C7972"^^xsd:string) AnnotationAssertion( "acute megakaryoblastic leukemia without Down syndrome"^^xsd:string) AnnotationAssertion( "pediatric non-Down syndrome acute megakaryoblastic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080794"^^xsd:string) AnnotationAssertion(rdfs:label "childhood acute megakaryoblastic leukemia"^^xsd:string) SubClassOf( ) # Class: (acute basophilic leukemia) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/leukemiabasophil.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Acute_basophilic_leukemia"^^xsd:string) "An acute myeloid leukemia that is characterized by primary differentiation to basophils. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T13:24:45Z"^^xsd:string) AnnotationAssertion( "EFO:0003029"^^xsd:string) AnnotationAssertion( "ICDO:9870/3"^^xsd:string) AnnotationAssertion( "MESH:D015471"^^xsd:string) AnnotationAssertion( "NCI:C3164"^^xsd:string) AnnotationAssertion( "acute basophilic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080795"^^xsd:string) AnnotationAssertion(rdfs:label "acute basophilic leukemia"^^xsd:string) SubClassOf( ) # Class: (core binding factor acute myeloid leukemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26980726/"^^xsd:string) "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002001"^^xsd:string) AnnotationAssertion( "NCI:C122688"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080796"^^xsd:string) AnnotationAssertion(rdfs:label "core binding factor acute myeloid leukemia"^^xsd:string) SubClassOf( ) # Class: (nasal type extranodal NK/T-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29602763/"^^xsd:string) "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-31T12:32:46Z"^^xsd:string) AnnotationAssertion( "ICDO:9719/3"^^xsd:string) AnnotationAssertion( "MESH:D054391"^^xsd:string) AnnotationAssertion( "MONDO:0019472"^^xsd:string) AnnotationAssertion( "NCI:C4684"^^xsd:string) AnnotationAssertion( "Extranodal NK T Cell Lymphoma, Nasal"^^xsd:string) AnnotationAssertion( "Extranodal NK T Cell Lymphoma, Nasal and Nasal Type"^^xsd:string) AnnotationAssertion( "Extranodal NK-T-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "extranodal NK-T-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080797"^^xsd:string) AnnotationAssertion(rdfs:label "nasal type extranodal NK/T-cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myeloid leukemia associated with Down Syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26910243/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31606922/"^^xsd:string) "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T08:09:55Z"^^xsd:string) AnnotationAssertion( "ICDO:9898/3"^^xsd:string) AnnotationAssertion( "MESH:C566025"^^xsd:string) AnnotationAssertion( "NCI:C43223"^^xsd:string) AnnotationAssertion( "ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME"^^xsd:string) AnnotationAssertion( "megakaryoblastic leukemia of Down syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080798"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid leukemia associated with Down Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sinonasal undifferentiated carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30806835/"^^xsd:string) "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000527"^^xsd:string) AnnotationAssertion( "MESH:C537344"^^xsd:string) AnnotationAssertion( "NCI:C54294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080799"^^xsd:string) AnnotationAssertion(rdfs:label "sinonasal undifferentiated carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (salivary gland mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26908552/"^^xsd:string) "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C62193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080800"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant craniometaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9382103/"^^xsd:string) "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:123000"^^xsd:string) AnnotationAssertion( "MESH:C565145"^^xsd:string) AnnotationAssertion( "CMDD"^^xsd:string) AnnotationAssertion( "CMDJ"^^xsd:string) AnnotationAssertion( "CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE"^^xsd:string) AnnotationAssertion( "craniometaphyseal dysplasia, Jackson type"^^xsd:string) AnnotationAssertion( "craniometaphyseal dysplasia, dominant type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080801"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant craniometaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive craniometaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9382103/"^^xsd:string) "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:218400"^^xsd:string) AnnotationAssertion( "MESH:C536570"^^xsd:string) AnnotationAssertion( "CMDR"^^xsd:string) AnnotationAssertion( "craniometaphyseal dysplasia, autosomal recessive type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080802"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive craniometaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cranioectodermal dysplasia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/517478/"^^xsd:string) "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:218330"^^xsd:string) AnnotationAssertion( "CED1"^^xsd:string) AnnotationAssertion( "Levin syndrome I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080803"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (cranioectodermal dysplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string) "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "WDR35-related disorder"^^xsd:string) AnnotationAssertion( "MIM:613610"^^xsd:string) AnnotationAssertion( "CED2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080804"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (cranioectodermal dysplasia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string) "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614099"^^xsd:string) AnnotationAssertion( "CED3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080805"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia 3"^^xsd:string) SubClassOf( ) # Class: (cranioectodermal dysplasia 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21378380/"^^xsd:string) "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614378"^^xsd:string) AnnotationAssertion( "CED4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080806"^^xsd:string) AnnotationAssertion(rdfs:label "cranioectodermal dysplasia 4"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant craniodiaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21221996/"^^xsd:string) "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:122860"^^xsd:string) AnnotationAssertion( "SOST-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567275"^^xsd:string) AnnotationAssertion( "CDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080807"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant craniodiaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mammary analogue secretory carcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/"^^xsd:string) "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T14:22:06Z"^^xsd:string) AnnotationAssertion( "MESH:D000069295"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080808"^^xsd:string) AnnotationAssertion(rdfs:label "mammary analogue secretory carcinoma"^^xsd:string) SubClassOf( ) # Class: (chronic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK7223/"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health-topics/asthma"^^xsd:string) "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-03T12:16:16Z"^^xsd:string) AnnotationAssertion( "EFO:0009759"^^xsd:string) AnnotationAssertion( "chronic obstructive asthma"^^xsd:string) AnnotationAssertion( "chronic obstructive asthma with acute exacerbation"^^xsd:string) AnnotationAssertion( "chronic obstructive asthma with status asthmaticus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080809"^^xsd:string) AnnotationAssertion(rdfs:label "chronic asthma"^^xsd:string) SubClassOf( ) # Class: (acute asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27554811/"^^xsd:string) "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080810"^^xsd:string) AnnotationAssertion(rdfs:label "acute asthma"^^xsd:string) SubClassOf( ) # Class: (extrinsic asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/"^^xsd:string) "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "atopic asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080811"^^xsd:string) AnnotationAssertion(rdfs:label "extrinsic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermittent asthma) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string) "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080812"^^xsd:string) AnnotationAssertion(rdfs:label "intermittent asthma"^^xsd:string) SubClassOf( ) # Class: (persistent mild asthma) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string) "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080813"^^xsd:string) AnnotationAssertion(rdfs:label "persistent mild asthma"^^xsd:string) SubClassOf( ) # Class: (persistent moderate asthma) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string) "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080814"^^xsd:string) AnnotationAssertion(rdfs:label "persistent moderate asthma"^^xsd:string) SubClassOf( ) # Class: (childhood-onset asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/"^^xsd:string) "A chronic asthma that is characterized by first presentation in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004591"^^xsd:string) AnnotationAssertion( "MONDO:0005405"^^xsd:string) AnnotationAssertion( "childhood asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080815"^^xsd:string) AnnotationAssertion(rdfs:label "childhood-onset asthma"^^xsd:string) SubClassOf( ) # Class: (adult-onset severe asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/"^^xsd:string) "A chronic asthma that is characterized by first presentation in adulthood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080816"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset severe asthma"^^xsd:string) SubClassOf( ) # Class: (T2-high asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21281866/"^^xsd:string) "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "type 2 high endotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080817"^^xsd:string) AnnotationAssertion(rdfs:label "T2-high asthma"^^xsd:string) SubClassOf( ) # Class: (T2-low asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21281866/"^^xsd:string) "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T08:41:12Z"^^xsd:string) AnnotationAssertion( "type 2 low endotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080818"^^xsd:string) AnnotationAssertion(rdfs:label "T2-low asthma"^^xsd:string) SubClassOf( ) # Class: (environmental induced asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK526018/"^^xsd:string) "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "irritant asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080819"^^xsd:string) AnnotationAssertion(rdfs:label "environmental induced asthma"^^xsd:string) SubClassOf( ) # Class: (occupational asthma) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000110.htm"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma"^^xsd:string) "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D059366"^^xsd:string) AnnotationAssertion( "occupational asthmas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080820"^^xsd:string) AnnotationAssertion(rdfs:label "occupational asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exercise-induced bronchoconstriction) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29631730/"^^xsd:string) "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D001250"^^xsd:string) AnnotationAssertion( "Exercise Induced Bronchospasm"^^xsd:string) AnnotationAssertion( "Exercise-Induced Asthma"^^xsd:string) AnnotationAssertion( "exercise-induced asthmas"^^xsd:string) AnnotationAssertion( "exercise-induced bronchospasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080821"^^xsd:string) AnnotationAssertion(rdfs:label "exercise-induced bronchoconstriction"^^xsd:string) SubClassOf( ) # Class: (aspirin-induced respiratory disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11028656/"^^xsd:string) "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004590"^^xsd:string) AnnotationAssertion( "MESH:D055963"^^xsd:string) AnnotationAssertion( "Aspirin Induced Asthma Syndrome"^^xsd:string) AnnotationAssertion( "Aspirin Induced Asthmas"^^xsd:string) AnnotationAssertion( "Aspirin-Induced Asthma"^^xsd:string) AnnotationAssertion( "Aspirin-Induced Asthma Syndromes"^^xsd:string) AnnotationAssertion( "NSAID-induced asthma"^^xsd:string) AnnotationAssertion( "NSAID-induced asthmas"^^xsd:string) AnnotationAssertion( "aspirin-sensitive asthma"^^xsd:string) AnnotationAssertion( "obsolete_aspirin induced asthma - now uses HP:0012042"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "aspirin-induced asthma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080822"^^xsd:string) AnnotationAssertion(rdfs:label "aspirin-induced respiratory disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (near-fatal asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27425166/"^^xsd:string) "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080823"^^xsd:string) AnnotationAssertion(rdfs:label "near-fatal asthma"^^xsd:string) SubClassOf( ) # Class: (persistent severe asthma) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2009/0501/p761.html"^^xsd:string) "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080824"^^xsd:string) AnnotationAssertion(rdfs:label "persistent severe asthma"^^xsd:string) SubClassOf( ) # Class: (thunderstorm triggered asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29413334/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29880151/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31190900/"^^xsd:string) "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "thunderstorm asthma"^^xsd:string) AnnotationAssertion( "thunderstorm related asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080825"^^xsd:string) AnnotationAssertion(rdfs:label "thunderstorm triggered asthma"^^xsd:string) SubClassOf( ) # Class: (nocturnal asthma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17571537/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/"^^xsd:string) "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080826"^^xsd:string) AnnotationAssertion(rdfs:label "nocturnal asthma"^^xsd:string) SubClassOf( ) # Class: (human cytomegalovirus infection) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25205255/"^^xsd:string) "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T16:50:05Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080827"^^xsd:string) AnnotationAssertion(rdfs:label "human cytomegalovirus infection"^^xsd:string) SubClassOf( ) # Class: (VEXAS syndrome) AnnotationAssertion(Annotation( "https://www.nejm.org/doi/full/10.1056/NEJMoa2026834"^^xsd:string) Annotation( "https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome"^^xsd:string) "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301054"^^xsd:string) AnnotationAssertion( "ORDO:596753"^^xsd:string) AnnotationAssertion( "VEXAS"^^xsd:string) AnnotationAssertion( "VEXAS syndrome, somatic"^^xsd:string) AnnotationAssertion( "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080828"^^xsd:string) AnnotationAssertion(rdfs:label "VEXAS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (low grade glioma) AnnotationAssertion(Annotation( "http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0060101"^^xsd:string) AnnotationAssertion( "NCI:C132067"^^xsd:string) AnnotationAssertion( "benign glioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080829"^^xsd:string) AnnotationAssertion(rdfs:label "low grade glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood low-grade glioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23583981/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/"^^xsd:string) "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-11T08:31:15Z"^^xsd:string) AnnotationAssertion( "pediatric low-grade glioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080830"^^xsd:string) AnnotationAssertion(rdfs:label "childhood low-grade glioma"^^xsd:string) SubClassOf( ) # Class: (subjective cognitive decline) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24798886/"^^xsd:string) "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-24T13:35:13Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080831"^^xsd:string) AnnotationAssertion(rdfs:label "subjective cognitive decline"^^xsd:string) SubClassOf( ) # Class: (mild cognitive impairment) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29282327/"^^xsd:string) "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007982"^^xsd:string) AnnotationAssertion( "mild cognitive impairments"^^xsd:string) AnnotationAssertion( "mild neurocognitive disorder"^^xsd:string) AnnotationAssertion( "mild neurocognitive disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080832"^^xsd:string) AnnotationAssertion(rdfs:label "mild cognitive impairment"^^xsd:string) SubClassOf( ) # Class: (laryngomalacia) AnnotationAssertion(Annotation( "https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia"^^xsd:string) Annotation( "https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia"^^xsd:string) "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:150280"^^xsd:string) AnnotationAssertion( "GARD:6865"^^xsd:string) AnnotationAssertion( "ICD10CM:Q31.5"^^xsd:string) AnnotationAssertion( "MESH:D055092"^^xsd:string) AnnotationAssertion( "ORDO:2373"^^xsd:string) AnnotationAssertion( "chondromalacia of larynx"^^xsd:string) AnnotationAssertion( "congenital laryngomalacia"^^xsd:string) AnnotationAssertion( "laryngomalacias"^^xsd:string) AnnotationAssertion( "larynx chondromalacia"^^xsd:string) AnnotationAssertion( "larynx chondromalacias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080833"^^xsd:string) AnnotationAssertion(rdfs:label "laryngomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acquired laryngomalacia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24615649/"^^xsd:string) "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080834"^^xsd:string) AnnotationAssertion(rdfs:label "acquired laryngomalacia"^^xsd:string) SubClassOf( ) # Class: (TORCH syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32317443/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32734340/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/torch-syndrome/"^^xsd:string) Annotation( "https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch"^^xsd:string) "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-22T13:51:21Z"^^xsd:string) AnnotationAssertion( "GARD:7781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080835"^^xsd:string) AnnotationAssertion(rdfs:label "TORCH syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (growth hormone insensitivity syndrome with immune dysregulation 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16787985/"^^xsd:string) "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T09:44:00Z"^^xsd:string) AnnotationAssertion( "MIM:245590"^^xsd:string) AnnotationAssertion( "GARD:3924"^^xsd:string) AnnotationAssertion( "MESH:C537871"^^xsd:string) AnnotationAssertion( "ORDO:220465"^^xsd:string) AnnotationAssertion( "GHISID1"^^xsd:string) AnnotationAssertion( "Laron syndrome due to postreceptor defect"^^xsd:string) AnnotationAssertion( "Laron syndrome type 2"^^xsd:string) AnnotationAssertion( "Laron type dwarfism 2"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity due to postreceptor defect"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity with immune dysregulation 1"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity with immune dysregulation 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity with immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080836"^^xsd:string) AnnotationAssertion(rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (growth hormone insensitivity syndrome with immune dysregulation 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29844444/"^^xsd:string) "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T13:56:00Z"^^xsd:string) AnnotationAssertion( "MIM:618985"^^xsd:string) AnnotationAssertion( "GHISID2"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity with immune dysregulation 2"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity with immune dysregulation 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080837"^^xsd:string) AnnotationAssertion(rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked warfarin sensitivity) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29450643/"^^xsd:string) "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-07T07:31:13Z"^^xsd:string) AnnotationAssertion( "MIM:301052"^^xsd:string) AnnotationAssertion( "COUMARIN SENSITIVITY, X-LINKED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080839"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked warfarin sensitivity"^^xsd:string) SubClassOf( ) # Class: (optic atrophy 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32219868/"^^xsd:string) "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-22T10:16:06Z"^^xsd:string) AnnotationAssertion( "MIM:618977"^^xsd:string) AnnotationAssertion( "OPA12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080840"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pemphigoid) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/pemphigus/"^^xsd:string) "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-31T11:50:10Z"^^xsd:string) AnnotationAssertion( "NCI:C34908"^^xsd:string) AnnotationAssertion( "pemphigoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080841"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigoid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial meningioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17961033/"^^xsd:string) "A meningioma that arises within the cranial cavity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:19:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4656"^^xsd:string) AnnotationAssertion( "intracranial meningiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080842"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial meningioma"^^xsd:string) SubClassOf( ) # Class: (supratentorial meningioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26636386/"^^xsd:string) "A meningioma that affects the supratentorial brain. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:30:11Z"^^xsd:string) AnnotationAssertion( "NCI:C7048"^^xsd:string) AnnotationAssertion( "supratentorial meningiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080843"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial meningioma"^^xsd:string) SubClassOf( ) # Class: (omodysplasia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17823719/"^^xsd:string) "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:34:11Z"^^xsd:string) AnnotationAssertion( "MIM:258315"^^xsd:string) AnnotationAssertion( "MESH:C537746"^^xsd:string) AnnotationAssertion( "ORDO:93329"^^xsd:string) AnnotationAssertion( "OMOD1"^^xsd:string) AnnotationAssertion( "omodysplasia (Maroteaux)"^^xsd:string) AnnotationAssertion( "omodysplasia type 1"^^xsd:string) AnnotationAssertion( "omodysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "omodysplasia, autosomal recessive form"^^xsd:string) AnnotationAssertion( "omodysplasia, generalized form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080844"^^xsd:string) AnnotationAssertion(rdfs:label "omodysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (omodysplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25759469/"^^xsd:string) "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:37:11Z"^^xsd:string) AnnotationAssertion( "MIM:164745"^^xsd:string) AnnotationAssertion( "MESH:C567664"^^xsd:string) AnnotationAssertion( "OMOD2"^^xsd:string) AnnotationAssertion( "omodysplasia, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080845"^^xsd:string) AnnotationAssertion(rdfs:label "omodysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (latent autoimmune diabetes in adults) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29947172/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30565440/"^^xsd:string) "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:40:11Z"^^xsd:string) AnnotationAssertion( "EFO:0009706"^^xsd:string) AnnotationAssertion( "MESH:D000071698"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus Type 1.5"^^xsd:string) AnnotationAssertion( "LADA"^^xsd:string) AnnotationAssertion( "LADA, Latent Autoimmune Diabetes in Adults"^^xsd:string) AnnotationAssertion( "Latent Autoimmune Diabetes of Adults"^^xsd:string) AnnotationAssertion( "type 1.5 diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080846"^^xsd:string) AnnotationAssertion(rdfs:label "latent autoimmune diabetes in adults"^^xsd:string) SubClassOf( ) # Class: (long COVID) AnnotationAssertion(Annotation( "https://www.bmj.com/content/371/bmj.m4470"^^xsd:string) Annotation( "https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1"^^xsd:string) Annotation( "https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1"^^xsd:string) Annotation( "https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1"^^xsd:string) Annotation( "https://www.nature.com/articles/d41586-020-02796-2"^^xsd:string) "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T15:10:09Z"^^xsd:string) AnnotationAssertion( "LONG COVID-19"^^xsd:string) AnnotationAssertion( "PASC"^^xsd:string) AnnotationAssertion( "POST-COVID-19 DISORDER"^^xsd:string) AnnotationAssertion( "chronic COVID-19"^^xsd:string) AnnotationAssertion( "post-COVID syndrome"^^xsd:string) AnnotationAssertion( "post-acute sequelae of SARS-CoV-2 infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080848"^^xsd:string) AnnotationAssertion(rdfs:label "long COVID"^^xsd:string) SubClassOf( ) # Class: (ocular motor apraxia, Cogan type) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oculomotor_apraxia"^^xsd:string) Annotation( "https://eyewiki.aao.org/Oculomotor_Apraxia"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/"^^xsd:string) "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:257550"^^xsd:string) AnnotationAssertion( "GARD:16"^^xsd:string) AnnotationAssertion( "MESH:C537423"^^xsd:string) AnnotationAssertion( "ORDO:1404"^^xsd:string) AnnotationAssertion( "COMA"^^xsd:string) AnnotationAssertion( "Cogan's syndrome, type 2"^^xsd:string) AnnotationAssertion( "Ocular Motor Apraxia"^^xsd:string) AnnotationAssertion( "Oculomotor Apraxia, Cogan Type"^^xsd:string) AnnotationAssertion( "congenital oculomotor apraxia"^^xsd:string) AnnotationAssertion( "congenital saccade initiation failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080849"^^xsd:string) AnnotationAssertion(rdfs:label "ocular motor apraxia, Cogan type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pemphigus foliaceus) AnnotationAssertion(Annotation( "https://dermnetnz.org/topics/pemphigus-foliaceus/"^^xsd:string) "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008601"^^xsd:string) AnnotationAssertion( "GARD:7354"^^xsd:string) AnnotationAssertion( "ICD10CM:L10.2"^^xsd:string) AnnotationAssertion( "pemphigus foliaceous"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080850"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus foliaceus"^^xsd:string) SubClassOf( ) # Class: (IgA pemphigus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK519063/"^^xsd:string) "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-18T14:27:34Z"^^xsd:string) AnnotationAssertion( "EFO:0008604"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080851"^^xsd:string) AnnotationAssertion(rdfs:label "IgA pemphigus"^^xsd:string) SubClassOf( ) # Class: (paraneoplastic pemphigus) AnnotationAssertion(Annotation( "https://dermnetnz.org/topics/paraneoplastic-pemphigus/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus"^^xsd:string) "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008602"^^xsd:string) AnnotationAssertion( "ICD10CM:L10.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080852"^^xsd:string) AnnotationAssertion(rdfs:label "paraneoplastic pemphigus"^^xsd:string) SubClassOf( ) # Class: (anaplastic pleomorphic xanthoastrocytoma) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/crinm/2018/6428492/"^^xsd:string) "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C129327"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080854"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic pleomorphic xanthoastrocytoma"^^xsd:string) SubClassOf( ) # Class: (Parkinsonism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/"^^xsd:string) "A movement disorder that is characterized by disturbances of balance, gait and posture. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D020734"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Juvenile Parkinsonism"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Parkinsonism"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Juvenile Parkinson Disease"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Parkinsonism"^^xsd:string) AnnotationAssertion( "Autosomal Recesssive Juvenile Parkinsonism"^^xsd:string) AnnotationAssertion( "Chromosome 6 Linked Autosomal Recessive Parkinsonism"^^xsd:string) AnnotationAssertion( "EPDF"^^xsd:string) AnnotationAssertion( "Experimental Parkinson Disease"^^xsd:string) AnnotationAssertion( "Experimental Parkinsonism"^^xsd:string) AnnotationAssertion( "Familial Juvenile Parkinsonism"^^xsd:string) AnnotationAssertion( "Familial Parkinson Disease, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Juvenile Parkinson Disease"^^xsd:string) AnnotationAssertion( "Juvenile Parkinsonism"^^xsd:string) AnnotationAssertion( "Juvenile Parkinsonism, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "MPTP Induced Experimental Parkinsonism"^^xsd:string) AnnotationAssertion( "PDJ"^^xsd:string) AnnotationAssertion( "Parkinsonian Disorders"^^xsd:string) AnnotationAssertion( "Parkinsonian Syndrome"^^xsd:string) AnnotationAssertion( "Parkinsonian disorder"^^xsd:string) AnnotationAssertion( "Ramsay Hunt paralysis syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant juvenile Parkinson disease"^^xsd:string) AnnotationAssertion( "experimental Parkinson diseases"^^xsd:string) AnnotationAssertion( "parkinsonian diseases"^^xsd:string) AnnotationAssertion( "parkinsonian syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080855"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinsonism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vascular Parkinsonism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/"^^xsd:string) "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080856"^^xsd:string) AnnotationAssertion(rdfs:label "vascular Parkinsonism"^^xsd:string) SubClassOf( ) # Class: (primary ovarian insufficiency 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27861765/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9005363"^^xsd:string) AnnotationAssertion( "GARD:4480"^^xsd:string) AnnotationAssertion( "MIM:311360"^^xsd:string) AnnotationAssertion( "FMR1-related primary ovarian insufficiency"^^xsd:string) AnnotationAssertion( "Fragile X Premature Ovarian Failure"^^xsd:string) AnnotationAssertion( "POF1"^^xsd:string) AnnotationAssertion( "fragile X-associated primary ovarian insufficiency"^^xsd:string) AnnotationAssertion( "premature ovarian failure 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080857"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 2A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9497258/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C564498"^^xsd:string) AnnotationAssertion( "MIM:300511"^^xsd:string) AnnotationAssertion( "MONDO:0010350"^^xsd:string) AnnotationAssertion( "POF2A"^^xsd:string) AnnotationAssertion( "premature ovarian failure 2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080858"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 2B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16773570/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300604"^^xsd:string) AnnotationAssertion( "MESH:C564476"^^xsd:string) AnnotationAssertion( "POF1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "POF2B"^^xsd:string) AnnotationAssertion( "premature ovarian failure 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080859"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12149404/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:608996"^^xsd:string) AnnotationAssertion( "MESH:C563816"^^xsd:string) AnnotationAssertion( "POF3"^^xsd:string) AnnotationAssertion( "premature ovarian failure 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080860"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 4) AnnotationAssertion(Annotation( "https://omim.org/entry/300510"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2012-05-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080861"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17701902/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T10:06:58Z"^^xsd:string) AnnotationAssertion( "MESH:C566921"^^xsd:string) AnnotationAssertion( "MIM:611548"^^xsd:string) AnnotationAssertion( "MONDO:0012689"^^xsd:string) AnnotationAssertion( "POF5"^^xsd:string) AnnotationAssertion( "premature ovarian failure 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080862"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18499083/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612310"^^xsd:string) AnnotationAssertion( "MESH:C567351"^^xsd:string) AnnotationAssertion( "POF6"^^xsd:string) AnnotationAssertion( "premature ovarian failure 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080863"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26523528/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612964"^^xsd:string) AnnotationAssertion( "MESH:C567838"^^xsd:string) AnnotationAssertion( "POF7"^^xsd:string) AnnotationAssertion( "premature ovarian failure 7"^^xsd:string) AnnotationAssertion( "ADRENAL INSUFFICIENCY, NR5A1-RELATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080864"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24597867/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615723"^^xsd:string) AnnotationAssertion( "MONDO:0014321"^^xsd:string) AnnotationAssertion( "POF8"^^xsd:string) AnnotationAssertion( "premature ovarian failure 8"^^xsd:string) AnnotationAssertion( "primary ovarian failure 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080865"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24597873/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615724"^^xsd:string) AnnotationAssertion( "POF9"^^xsd:string) AnnotationAssertion( "premature ovarian failure 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080866"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25873734/"^^xsd:string) "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612885"^^xsd:string) AnnotationAssertion( "POF10"^^xsd:string) AnnotationAssertion( "premature ovarian failure 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080867"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26218421/"^^xsd:string) "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616946"^^xsd:string) AnnotationAssertion( "POF11"^^xsd:string) AnnotationAssertion( "premature ovarian failure 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080868"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25062452/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T09:55:06Z"^^xsd:string) AnnotationAssertion( "MIM:616947"^^xsd:string) AnnotationAssertion( "POF12"^^xsd:string) AnnotationAssertion( "premature ovarian failure 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080869"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28175301/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617442"^^xsd:string) AnnotationAssertion( "POF13"^^xsd:string) AnnotationAssertion( "premature ovarian failure 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080870"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29044499/"^^xsd:string) "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618014"^^xsd:string) AnnotationAssertion( "POF14"^^xsd:string) AnnotationAssertion( "premature ovarian failure 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080871"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29231814/"^^xsd:string) "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618096"^^xsd:string) AnnotationAssertion( "POF15"^^xsd:string) AnnotationAssertion( "premature ovarian failure 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080872"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30010909/"^^xsd:string) "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010646"^^xsd:string) AnnotationAssertion( "MIM:618723"^^xsd:string) AnnotationAssertion( "POF16"^^xsd:string) AnnotationAssertion( "genetic non-acquired premature ovarian failure"^^xsd:string) AnnotationAssertion( "premature ovarian failure 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080873"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30489636/"^^xsd:string) "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619146"^^xsd:string) AnnotationAssertion( "POF17"^^xsd:string) AnnotationAssertion( "premature ovarian failure 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080874"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 17"^^xsd:string) SubClassOf( ) # Class: (IDH-mutant anaplastic astrocytoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/anaastroidhmutant.html"^^xsd:string) "An anaplastic astrocytoma carrying IDH mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T20:16:11Z"^^xsd:string) AnnotationAssertion( "NCI:C185167"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ASTROCYTOMA IDH-MUTANT"^^xsd:string) AnnotationAssertion( "DOID:0080875"^^xsd:string) AnnotationAssertion(rdfs:label "IDH-mutant anaplastic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (IDH-wildtype anaplastic astrocytoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html"^^xsd:string) "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T12:09:18Z"^^xsd:string) AnnotationAssertion( "NCI:C129291"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080876"^^xsd:string) AnnotationAssertion(rdfs:label "IDH-wildtype anaplastic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (astrocytoma, IDH-mutant, grade 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33692446/"^^xsd:string) "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-26T10:54:07Z"^^xsd:string) AnnotationAssertion( "ICDO:9445/3"^^xsd:string) AnnotationAssertion( "NCI:C167335"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080877"^^xsd:string) AnnotationAssertion(rdfs:label "astrocytoma, IDH-mutant, grade 4"^^xsd:string) SubClassOf( ) # Class: (IDH-wildtype glioblastoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html"^^xsd:string) "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T14:12:02Z"^^xsd:string) AnnotationAssertion( "NCI:C39750"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080878"^^xsd:string) AnnotationAssertion(rdfs:label "IDH-wildtype glioblastoma"^^xsd:string) SubClassOf( ) # Class: (histone mutated tumor) AnnotationAssertion(Annotation( "https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143"^^xsd:string) "A high grade glioma that has_material_basis_in mutations in the genes encoding histones. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T20:35:11Z"^^xsd:string) AnnotationAssertion( "histone mutated tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080879"^^xsd:string) AnnotationAssertion(rdfs:label "histone mutated tumor"^^xsd:string) SubClassOf( ) # Class: (diffuse glioma, H3 G34 mutant) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30358620/"^^xsd:string) "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T20:39:11Z"^^xsd:string) AnnotationAssertion( "ICDO:9385/3"^^xsd:string) AnnotationAssertion( "NCI:C185371"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080880"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse glioma, H3 G34 mutant"^^xsd:string) SubClassOf( ) # Class: (pleomorphic xanthoastrocytoma BRAF mutant) AnnotationAssertion(Annotation( "https://www.futuremedicine.com/doi/10.2217/cns-2019-0009"^^xsd:string) "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-11T11:14:07Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080881"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic xanthoastrocytoma BRAF mutant"^^xsd:string) SubClassOf( ) # Class: (IDH-mutant and 1p/19q-codeleted oligodendroglioma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/s41598-020-68733-5"^^xsd:string) Annotation( "https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html"^^xsd:string) "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-10T05:26:22Z"^^xsd:string) AnnotationAssertion( "NCI:C129321"^^xsd:string) AnnotationAssertion( "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080882"^^xsd:string) AnnotationAssertion(rdfs:label "IDH-mutant and 1p/19q-codeleted oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (vitamin D-dependent rickets) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets"^^xsd:string) "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T20:50:11Z"^^xsd:string) AnnotationAssertion( "ICD9CM:268.0"^^xsd:string) AnnotationAssertion( "MONDO:0024299"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080883"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin D-dependent rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vitamin D-dependent rickets type 2A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27705794/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string) "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T20:56:11Z"^^xsd:string) AnnotationAssertion( "MIM:277440"^^xsd:string) AnnotationAssertion( "OMIA:001431"^^xsd:string) AnnotationAssertion( "MESH:C562794"^^xsd:string) AnnotationAssertion( "ORDO:93160"^^xsd:string) AnnotationAssertion( "HVDRR"^^xsd:string) AnnotationAssertion( "HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS"^^xsd:string) AnnotationAssertion( "PDDR IIA"^^xsd:string) AnnotationAssertion( "Pseudovitamin D-Deficiency, Type IIA"^^xsd:string) AnnotationAssertion( "VDDR2A"^^xsd:string) AnnotationAssertion( "generalized resistance to 1,25-dihydroxyvitamin D"^^xsd:string) AnnotationAssertion( "rickets-alopecia syndrome"^^xsd:string) AnnotationAssertion( "vitamin D-deficiency rickets, type II"^^xsd:string) AnnotationAssertion( "vitamin D-dependent rickets type 2A, with or without alopecia"^^xsd:string) AnnotationAssertion( "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080884"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin D-dependent rickets type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vitamin D-dependent rickets type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string) "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T17:21:15Z"^^xsd:string) AnnotationAssertion( "MIM:600785"^^xsd:string) AnnotationAssertion( "MESH:C567571"^^xsd:string) AnnotationAssertion( "VDDR2B"^^xsd:string) AnnotationAssertion( "Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080885"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin D-dependent rickets type 2B"^^xsd:string) SubClassOf( ) # Class: (vitamin D-dependent rickets type 1A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27705794/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string) "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:11:11Z"^^xsd:string) AnnotationAssertion( "MIM:264700"^^xsd:string) AnnotationAssertion( "OMIA:000837"^^xsd:string) AnnotationAssertion( "MESH:C562688"^^xsd:string) AnnotationAssertion( "1-Alpha-Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "1-alpha, 25-hydroxyvitamin D3 deficiency, selective"^^xsd:string) AnnotationAssertion( "25-Hydroxycholecalciferol-1-Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "CYP27B1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PDDR IA"^^xsd:string) AnnotationAssertion( "PDDR1A"^^xsd:string) AnnotationAssertion( "Pseudovitamin D-Deficiency Rickets, Type IA"^^xsd:string) AnnotationAssertion( "VDD1"^^xsd:string) AnnotationAssertion( "VDDR1A"^^xsd:string) AnnotationAssertion( "Vitamin D Dependency, Type 1"^^xsd:string) AnnotationAssertion( "vitamin D hydroxylation-deficient rickets, type 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "vitamin D-deficiency rickets, type I"^^xsd:string) AnnotationAssertion( "DOID:0080886"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin D-dependent rickets type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vitamin D-dependent rickets type 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26365513/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/"^^xsd:string) "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:15:11Z"^^xsd:string) AnnotationAssertion( "MIM:600081"^^xsd:string) AnnotationAssertion( "MESH:C564005"^^xsd:string) AnnotationAssertion( "VDDR1B"^^xsd:string) AnnotationAssertion( "pseudovitamin D3 deficiency rickets due to 25-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "selective 25-hydroxyvitamin D3 deficiency"^^xsd:string) AnnotationAssertion( "vitamin D hydroxylation-deficient rickets, type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080887"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin D-dependent rickets type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal ependymoma, MYCN-amplified) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/"^^xsd:string) "A spinal cord ependymoma that is characterized by MYCN amplification. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T09:36:31Z"^^xsd:string) AnnotationAssertion( "NCI:C186494"^^xsd:string) AnnotationAssertion( "Spinal Cord Ependymoma, MYCN Amplified"^^xsd:string) AnnotationAssertion( "spinal ependymoma, MYCN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080888"^^xsd:string) AnnotationAssertion(rdfs:label "spinal ependymoma, MYCN-amplified"^^xsd:string) SubClassOf( ) # Class: (posterior fossa ependymoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26351223/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32502305/"^^xsd:string) "A high grade ependymoma that is located within the posterior fossa. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:21:11Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080889"^^xsd:string) AnnotationAssertion(rdfs:label "posterior fossa ependymoma"^^xsd:string) SubClassOf( ) # Class: (supratentorial ependymoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27858204/"^^xsd:string) "A high grade ependymoma that is located within the supratentorial brain. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:24:11Z"^^xsd:string) AnnotationAssertion( "ICDO:9391/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080890"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial ependymoma"^^xsd:string) SubClassOf( ) # Class: (YAP1-MAMLD1 fusion-positive supratentorial ependymoma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/s41467-019-11884-5"^^xsd:string) "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:28:11Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080891"^^xsd:string) AnnotationAssertion(rdfs:label "YAP1-MAMLD1 fusion-positive supratentorial ependymoma"^^xsd:string) SubClassOf( ) # Class: (RELA fusion-positive ependymoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html"^^xsd:string) "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T21:33:11Z"^^xsd:string) AnnotationAssertion( "ICDO:9396/3"^^xsd:string) AnnotationAssertion( "NCI:C129351"^^xsd:string) AnnotationAssertion( "ORDO:530792"^^xsd:string) AnnotationAssertion( "C11orf95 fusion-positive supratentorial ependymoma"^^xsd:string) AnnotationAssertion( "supratentorial C11ORF95-RELA fused ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080892"^^xsd:string) AnnotationAssertion(rdfs:label "RELA fusion-positive ependymoma"^^xsd:string) SubClassOf( ) # Class: (Bainbridge-Ropers syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23383720/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23672984/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27901041/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32132929/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK563693/"^^xsd:string) "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T14:54:04Z"^^xsd:string) AnnotationAssertion( "GARD:13259"^^xsd:string) AnnotationAssertion( "MIM:615485"^^xsd:string) AnnotationAssertion( "ORDO:352577"^^xsd:string) AnnotationAssertion( "ASXL3-related disorder"^^xsd:string) AnnotationAssertion( "BRPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080893"^^xsd:string) AnnotationAssertion(rdfs:label "Bainbridge-Ropers syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lipofibromatosis-like neural tumor) AnnotationAssertion(Annotation( "https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27259011/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/"^^xsd:string) "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-19T13:25:27Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080894"^^xsd:string) AnnotationAssertion(rdfs:label "lipofibromatosis-like neural tumor"^^xsd:string) SubClassOf( ) # Class: (rapidly involuting congenital hemangioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/"^^xsd:string) "A hemangioma that is characterized by complete regression. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T15:52:05Z"^^xsd:string) AnnotationAssertion( "NCI:C172207"^^xsd:string) AnnotationAssertion( "ORDO:141184"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080895"^^xsd:string) AnnotationAssertion(rdfs:label "rapidly involuting congenital hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pericytoma with t(7;12)) AnnotationAssertion(Annotation( "http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30085941/"^^xsd:string) "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-27T13:41:52Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080896"^^xsd:string) AnnotationAssertion(rdfs:label "pericytoma with t(7;12)"^^xsd:string) SubClassOf( ) # Class: (solitary fibrous tumor/hemangiopericytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29521591/"^^xsd:string) Annotation( "https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/S221475191830183X"^^xsd:string) "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T22:01:11Z"^^xsd:string) AnnotationAssertion( "ICDO:8815/1"^^xsd:string) AnnotationAssertion( "ORDO:2126"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080897"^^xsd:string) AnnotationAssertion(rdfs:label "solitary fibrous tumor/hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellofaciodental syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27748960"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32896090/"^^xsd:string) "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T22:05:11Z"^^xsd:string) AnnotationAssertion( "EFO:0009030"^^xsd:string) AnnotationAssertion( "MIM:616202"^^xsd:string) AnnotationAssertion( "ORDO:444072"^^xsd:string) AnnotationAssertion( "CFDS"^^xsd:string) AnnotationAssertion( "cerebellar-facial-dental syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080898"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellofaciodental syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lung pleomorphic carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31355240/"^^xsd:string) "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C45542"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080899"^^xsd:string) AnnotationAssertion(rdfs:label "lung pleomorphic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/"^^xsd:string) "A rhabdomyosarcoma located in the oral cavity. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080900"^^xsd:string) AnnotationAssertion(rdfs:label "oral rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder sarcomatoid transitional cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30287139/"^^xsd:string) "A sarcomatoid transitional cell carcinoma that is located_in the bladder. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080901"^^xsd:string) AnnotationAssertion(rdfs:label "bladder sarcomatoid transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder small cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29763719/"^^xsd:string) "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080902"^^xsd:string) AnnotationAssertion(rdfs:label "bladder small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (embryonal tumor with multilayered rosettes, C19MC-altered) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/"^^xsd:string) "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:4794"^^xsd:string) AnnotationAssertion( "NCI:C4915"^^xsd:string) AnnotationAssertion( "ependymoblastoma"^^xsd:string) AnnotationAssertion( "ependymoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080903"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string) SubClassOf( ) # Class: (astroblastoma, MN1-altered) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31111274/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/"^^xsd:string) "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T09:31:57Z"^^xsd:string) AnnotationAssertion( "CNS high-grade neuroepithelial tumors with MN1 alteration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080904"^^xsd:string) AnnotationAssertion(rdfs:label "astroblastoma, MN1-altered"^^xsd:string) SubClassOf( ) # Class: (central nervous system neuroblastoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29520437/"^^xsd:string) "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-27T16:34:12Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080905"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CNS neuroblastoma with FOXR2 activation) AnnotationAssertion(Annotation( "https://link.springer.com/article/10.1007%2Fs10014-020-00370-2"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/"^^xsd:string) "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9500/3"^^xsd:string) AnnotationAssertion( "CNS NB-FOXR2"^^xsd:string) AnnotationAssertion( "CNS neuroblastoma, FOXR2-activated"^^xsd:string) AnnotationAssertion( "central nervous system neuroblastoma with FOXR2 activation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080906"^^xsd:string) AnnotationAssertion(rdfs:label "CNS neuroblastoma with FOXR2 activation"^^xsd:string) SubClassOf( ) # Class: (Cockayne syndrome A) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/cockayne-syndrome/"^^xsd:string) "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:14:01Z"^^xsd:string) AnnotationAssertion( "DOID:9007866"^^xsd:string) AnnotationAssertion( "ERCC8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:1415"^^xsd:string) AnnotationAssertion( "MIM:216400"^^xsd:string) AnnotationAssertion( "MONDO:0019569"^^xsd:string) AnnotationAssertion( "NCI:C135725"^^xsd:string) AnnotationAssertion( "CSA"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type 1"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type A"^^xsd:string) AnnotationAssertion( "Cockayne syndrome, classical"^^xsd:string) AnnotationAssertion( "Type I Cockayne Syndrome"^^xsd:string) AnnotationAssertion( "group A Cockayne syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080907"^^xsd:string) AnnotationAssertion(rdfs:label "Cockayne syndrome A"^^xsd:string) SubClassOf( ) # Class: (Cockayne syndrome B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string) "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:16:48Z"^^xsd:string) AnnotationAssertion( "DOID:9007951"^^xsd:string) AnnotationAssertion( "GARD:1420"^^xsd:string) AnnotationAssertion( "MIM:133540"^^xsd:string) AnnotationAssertion( "NCI:C135726"^^xsd:string) AnnotationAssertion( "CSB"^^xsd:string) AnnotationAssertion( "Cockayne syndrome 2"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type B"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type II"^^xsd:string) AnnotationAssertion( "group B Cockayne syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "congenital Cockayne syndrome"^^xsd:string) AnnotationAssertion( "DOID:0080908"^^xsd:string) AnnotationAssertion(rdfs:label "Cockayne syndrome B"^^xsd:string) SubClassOf( ) # Class: (castration-resistant prostate carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30324351/"^^xsd:string) "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:18:28Z"^^xsd:string) AnnotationAssertion( "DOID:9004674"^^xsd:string) AnnotationAssertion( "MESH:D064129"^^xsd:string) AnnotationAssertion( "MONDO:0019570"^^xsd:string) AnnotationAssertion( "NCI:C130234"^^xsd:string) AnnotationAssertion( "Androgen Independent Prostatic Cancer"^^xsd:string) AnnotationAssertion( "Androgen Independent Prostatic Neoplasms"^^xsd:string) AnnotationAssertion( "Androgen Insensitive Prostatic Cancer"^^xsd:string) AnnotationAssertion( "Androgen Insensitive Prostatic Neoplasms"^^xsd:string) AnnotationAssertion( "Androgen Resistant Prostatic Cancer"^^xsd:string) AnnotationAssertion( "Androgen Resistant Prostatic Neoplasms"^^xsd:string) AnnotationAssertion( "Androgen-Independent Prostatic Neoplasm"^^xsd:string) AnnotationAssertion( "Androgen-Insensitive Prostatic Cancers"^^xsd:string) AnnotationAssertion( "Androgen-Insensitive Prostatic Neoplasm"^^xsd:string) AnnotationAssertion( "Androgen-Resistant Prostatic Cancers"^^xsd:string) AnnotationAssertion( "Androgen-Resistant Prostatic Neoplasm"^^xsd:string) AnnotationAssertion( "Castration Resistant Prostatic Cancer"^^xsd:string) AnnotationAssertion( "Castration-Resistant Prostatic Cancers"^^xsd:string) AnnotationAssertion( "Castration-Resistant Prostatic Neoplasm"^^xsd:string) AnnotationAssertion( "Castration-Resistant Prostatic Neoplasms"^^xsd:string) AnnotationAssertion( "Hormone Refractory Prostatic Cancer"^^xsd:string) AnnotationAssertion( "androgen-independent prostatic cancers"^^xsd:string) AnnotationAssertion( "hormone refractory prostatic neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080909"^^xsd:string) AnnotationAssertion(rdfs:label "castration-resistant prostate carcinoma"^^xsd:string) SubClassOf( ) # Class: (cerebrooculofacioskeletal syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string) "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:21:48Z"^^xsd:string) AnnotationAssertion( "DOID:9007995"^^xsd:string) AnnotationAssertion( "GARD:6027"^^xsd:string) AnnotationAssertion( "MIM:PS214150"^^xsd:string) AnnotationAssertion( "NCI:C3817"^^xsd:string) AnnotationAssertion( "CEREBRO-OCULO-FACIO-SKELETAL SYNDROME"^^xsd:string) AnnotationAssertion( "COFS"^^xsd:string) AnnotationAssertion( "COFS syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080910"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrooculofacioskeletal syndrome"^^xsd:string) SubClassOf( ) # Class: (cerebrooculofacioskeletal syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20456449/"^^xsd:string) "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:24:27Z"^^xsd:string) AnnotationAssertion( "DOID:9003294"^^xsd:string) AnnotationAssertion( "MIM:214150"^^xsd:string) AnnotationAssertion( "MESH:C562434"^^xsd:string) AnnotationAssertion( "NCI:C173085"^^xsd:string) AnnotationAssertion( "COFS1"^^xsd:string) AnnotationAssertion( "Pena-Shokeir syndrome, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080911"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrooculofacioskeletal syndrome 1"^^xsd:string) SubClassOf( ) # Class: (cerebrooculofacioskeletal syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11443545/"^^xsd:string) "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:25:42Z"^^xsd:string) AnnotationAssertion( "DOID:9007127"^^xsd:string) AnnotationAssertion( "MIM:610756"^^xsd:string) AnnotationAssertion( "MESH:C565185"^^xsd:string) AnnotationAssertion( "COFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080912"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrooculofacioskeletal syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebrooculofacioskeletal syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24700531/"^^xsd:string) "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:25:50Z"^^xsd:string) AnnotationAssertion( "DOID:9001554"^^xsd:string) AnnotationAssertion( "MIM:616570"^^xsd:string) AnnotationAssertion( "MESH:C565035"^^xsd:string) AnnotationAssertion( "COFS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080913"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrooculofacioskeletal syndrome 3"^^xsd:string) SubClassOf( ) # Class: (cerebrooculofacioskeletal syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23623389/"^^xsd:string) "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:25:58Z"^^xsd:string) AnnotationAssertion( "DOID:9003501"^^xsd:string) AnnotationAssertion( "MIM:610758"^^xsd:string) AnnotationAssertion( "MESH:C565184"^^xsd:string) AnnotationAssertion( "NCI:C173104"^^xsd:string) AnnotationAssertion( "COFS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080914"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrooculofacioskeletal syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (histiocytic sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/"^^xsd:string) "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:29:08Z"^^xsd:string) AnnotationAssertion( "DOID:8580"^^xsd:string) AnnotationAssertion( "DOID:9006442"^^xsd:string) AnnotationAssertion( "EFO:1001499"^^xsd:string) AnnotationAssertion( "ICDO:9755/3"^^xsd:string) AnnotationAssertion( "MESH:D054747"^^xsd:string) AnnotationAssertion( "NCI:C128125"^^xsd:string) AnnotationAssertion( "NCI:C21886"^^xsd:string) AnnotationAssertion( "NCI:C27349"^^xsd:string) AnnotationAssertion( "NCI:C60419"^^xsd:string) AnnotationAssertion( "NCI:C7202"^^xsd:string) AnnotationAssertion( "Stewart's granuloma"^^xsd:string) AnnotationAssertion( "histiocytic medullary reticulosis"^^xsd:string) AnnotationAssertion( "histiocytic sarcomas"^^xsd:string) AnnotationAssertion( "malignant histiocytoses"^^xsd:string) AnnotationAssertion( "malignant histiocytosis"^^xsd:string) AnnotationAssertion( "malignant midline reticulosis"^^xsd:string) AnnotationAssertion( "malignant reticulosis"^^xsd:string) AnnotationAssertion( "true histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "true histiocytic lymphomas"^^xsd:string) AnnotationAssertion( "true malignant histiocytoses"^^xsd:string) AnnotationAssertion( "true malignant histiocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080915"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytic sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythroleukemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/"^^xsd:string) "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:33:07Z"^^xsd:string) AnnotationAssertion( "DOID:9002149"^^xsd:string) AnnotationAssertion( "EFO:1001257"^^xsd:string) AnnotationAssertion( "EFO:1001955"^^xsd:string) AnnotationAssertion( "MESH:D004915"^^xsd:string) AnnotationAssertion( "NCI:C135722"^^xsd:string) AnnotationAssertion( "NCI:C7152"^^xsd:string) AnnotationAssertion( "Acute Erythroblastic Leukemia"^^xsd:string) AnnotationAssertion( "Di Guglielmo Disease"^^xsd:string) AnnotationAssertion( "Di Guglielmo's Disease"^^xsd:string) AnnotationAssertion( "Di Guglielmos Disease"^^xsd:string) AnnotationAssertion( "Erythremic Myeloses"^^xsd:string) AnnotationAssertion( "Erythremic Myelosis"^^xsd:string) AnnotationAssertion( "Erythroleukemias"^^xsd:string) AnnotationAssertion( "acute erythroblastic leukemias"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080916"^^xsd:string) AnnotationAssertion(rdfs:label "erythroleukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sporadic amyotrophic lateral sclerosis) AnnotationAssertion(Annotation( "https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:39:22Z"^^xsd:string) AnnotationAssertion( "EFO:0001357"^^xsd:string) AnnotationAssertion( "MONDO:0005145"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080917"^^xsd:string) AnnotationAssertion(rdfs:label "sporadic amyotrophic lateral sclerosis"^^xsd:string) SubClassOf( ) # Class: (polymicrogyria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10489031/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string) "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:40:47Z"^^xsd:string) AnnotationAssertion( "DOID:9004861"^^xsd:string) AnnotationAssertion( "MESH:D065706"^^xsd:string) AnnotationAssertion( "NCI:C116936"^^xsd:string) AnnotationAssertion( "Cerebral Micropolygyria"^^xsd:string) AnnotationAssertion( "Cerebral Micropolygyrias"^^xsd:string) AnnotationAssertion( "Cerebral Polymicrogyria"^^xsd:string) AnnotationAssertion( "Cerebral Polymicrogyrias"^^xsd:string) AnnotationAssertion( "Micropolygyria"^^xsd:string) AnnotationAssertion( "Micropolygyrias"^^xsd:string) AnnotationAssertion( "Polymicrogyrias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080918"^^xsd:string) AnnotationAssertion(rdfs:label "polymicrogyria"^^xsd:string) SubClassOf( ) # Class: (unilateral focal polymicrogyria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string) "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:44:13Z"^^xsd:string) AnnotationAssertion( "ORDO:268947"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080919"^^xsd:string) AnnotationAssertion(rdfs:label "unilateral focal polymicrogyria"^^xsd:string) SubClassOf( ) # Class: (bilateral generalized polymicrogyria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1329/"^^xsd:string) "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:45:47Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080920"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral generalized polymicrogyria"^^xsd:string) SubClassOf( ) # Class: (bilateral frontal polymicrogyria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria"^^xsd:string) "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:47:22Z"^^xsd:string) AnnotationAssertion( "GARD:10783"^^xsd:string) AnnotationAssertion( "ORDO:208444"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080921"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral frontal polymicrogyria"^^xsd:string) SubClassOf( ) # Class: (bilateral frontoparietal polymicrogyria) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002"^^xsd:string) "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:48:25Z"^^xsd:string) AnnotationAssertion( "DOID:9002736"^^xsd:string) AnnotationAssertion( "MIM:606854"^^xsd:string) AnnotationAssertion( "GARD:10784"^^xsd:string) AnnotationAssertion( "MESH:C564652"^^xsd:string) AnnotationAssertion( "NCI:C148367"^^xsd:string) AnnotationAssertion( "BFPP"^^xsd:string) AnnotationAssertion( "CDCBM14A"^^xsd:string) AnnotationAssertion( "Cerebellar Ataxia with Neuronal Migration Defect"^^xsd:string) AnnotationAssertion( "complex cortical dysplasia with other brain malformations 14A, (bilateral frontoparietal)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080922"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral frontoparietal polymicrogyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bilateral parasagittal parieto-occipital polymicrogyria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10690985/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9005867/"^^xsd:string) "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:51:05Z"^^xsd:string) AnnotationAssertion( "DOID:9004690"^^xsd:string) AnnotationAssertion( "MIM:612691"^^xsd:string) AnnotationAssertion( "GARD:10785"^^xsd:string) AnnotationAssertion( "MESH:C567201"^^xsd:string) AnnotationAssertion( "ORDO:208441"^^xsd:string) AnnotationAssertion( "BTOP"^^xsd:string) AnnotationAssertion( "POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL"^^xsd:string) AnnotationAssertion( "Polymicrogyria, Bilateral Occipital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080923"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral parasagittal parieto-occipital polymicrogyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bilateral perisylvian polymicrogyria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24531968/"^^xsd:string) "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:56:42Z"^^xsd:string) AnnotationAssertion( "DOID:9003520"^^xsd:string) AnnotationAssertion( "MIM:300388"^^xsd:string) AnnotationAssertion( "MIM:615752"^^xsd:string) AnnotationAssertion( "GARD:6011"^^xsd:string) AnnotationAssertion( "MESH:C536658"^^xsd:string) AnnotationAssertion( "ORDO:98889"^^xsd:string) AnnotationAssertion( "BPP"^^xsd:string) AnnotationAssertion( "BPPX"^^xsd:string) AnnotationAssertion( "CBPS"^^xsd:string) AnnotationAssertion( "CDCBM14B"^^xsd:string) AnnotationAssertion( "Congenital bilateral perisylvian syndrome"^^xsd:string) AnnotationAssertion( "PMGX"^^xsd:string) AnnotationAssertion( "POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED"^^xsd:string) AnnotationAssertion( "Perisylvian Syndrome"^^xsd:string) AnnotationAssertion( "complex cortical dysplasia with other brain malformations 14B, (bilateral perisylvian)"^^xsd:string) AnnotationAssertion( "BPPR"^^xsd:string) AnnotationAssertion( "POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "bilateral perisylvian polymicrogyria with autosomal recessive inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080924"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral perisylvian polymicrogyria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cytochrome P450 oxidoreductase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1419/"^^xsd:string) "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:01:27Z"^^xsd:string) AnnotationAssertion( "GARD:12664"^^xsd:string) AnnotationAssertion( "MIM:613571"^^xsd:string) AnnotationAssertion( "NCI:C131302"^^xsd:string) AnnotationAssertion( "DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY"^^xsd:string) AnnotationAssertion( "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080925"^^xsd:string) AnnotationAssertion(rdfs:label "cytochrome P450 oxidoreductase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (7q11.23 duplication syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK327268/"^^xsd:string) "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:07:19Z"^^xsd:string) AnnotationAssertion( "DOID:9002292"^^xsd:string) AnnotationAssertion( "MIM:609757"^^xsd:string) AnnotationAssertion( "GARD:12076"^^xsd:string) AnnotationAssertion( "MESH:C565723"^^xsd:string) AnnotationAssertion( "NCI:C165597"^^xsd:string) AnnotationAssertion( "ORDO:96121"^^xsd:string) AnnotationAssertion( "7q11.23 microduplication syndrome"^^xsd:string) AnnotationAssertion( "WBS duplication syndrome"^^xsd:string) AnnotationAssertion( "William-Beuren region duplication syndrome"^^xsd:string) AnnotationAssertion( "Williams-Beuren Region Duplication Syndrome"^^xsd:string) AnnotationAssertion( "chromosome 7q11.23 duplication syndrome"^^xsd:string) AnnotationAssertion( "Somerville-Van der Aa syndrome"^^xsd:string) AnnotationAssertion( "WBS triplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 7q11.23 triplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080926"^^xsd:string) AnnotationAssertion(rdfs:label "7q11.23 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (apolipoprotein A-IV associated amyloidosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27262366/"^^xsd:string) "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:09:58Z"^^xsd:string) AnnotationAssertion( "ORDO:439232"^^xsd:string) AnnotationAssertion( "AApoAIV amyloidosis"^^xsd:string) AnnotationAssertion( "renal AApoAIV amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080927"^^xsd:string) AnnotationAssertion(rdfs:label "apolipoprotein A-IV associated amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dialysis-related amyloidosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/"^^xsd:string) "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:11:52Z"^^xsd:string) AnnotationAssertion( "GARD:0010563"^^xsd:string) AnnotationAssertion( "ORDO:439246"^^xsd:string) AnnotationAssertion( "ABeta2M amyloidosis"^^xsd:string) AnnotationAssertion( "Amyloidosis Beta2M"^^xsd:string) AnnotationAssertion( "Aβ2M amyloidosis"^^xsd:string) AnnotationAssertion( "Beta2-microglobulinic amyloidosis"^^xsd:string) AnnotationAssertion( "dialysis-related beta2-microglobulin amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080928"^^xsd:string) AnnotationAssertion(rdfs:label "dialysis-related amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (variant ABeta2M amyloidosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32392555/"^^xsd:string) "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:13:47Z"^^xsd:string) AnnotationAssertion( "ORDO:314652"^^xsd:string) AnnotationAssertion( "Autosomal dominant beta2-microglobulinic amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080929"^^xsd:string) AnnotationAssertion(rdfs:label "variant ABeta2M amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary localized cutaneous amyloidosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19663869/"^^xsd:string) "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T20:15:10Z"^^xsd:string) AnnotationAssertion( "DOID:9003043"^^xsd:string) AnnotationAssertion( "MIM:105250"^^xsd:string) AnnotationAssertion( "NCI:C189282"^^xsd:string) AnnotationAssertion( "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1"^^xsd:string) AnnotationAssertion( "PCA1"^^xsd:string) AnnotationAssertion( "PLCA1"^^xsd:string) AnnotationAssertion( "familial primary localized cutaneous amyloidosis-1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080930"^^xsd:string) AnnotationAssertion(rdfs:label "primary localized cutaneous amyloidosis 1"^^xsd:string) SubClassOf( ) # Class: (primary localized cutaneous amyloidosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19663869/"^^xsd:string) "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:28:06Z"^^xsd:string) AnnotationAssertion( "DOID:9005272"^^xsd:string) AnnotationAssertion( "MIM:613955"^^xsd:string) AnnotationAssertion( "PLCA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080931"^^xsd:string) AnnotationAssertion(rdfs:label "primary localized cutaneous amyloidosis 2"^^xsd:string) SubClassOf( ) # Class: (primary localized cutaneous amyloidosis 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25866143/"^^xsd:string) "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:29:30Z"^^xsd:string) AnnotationAssertion( "DOID:9009134"^^xsd:string) AnnotationAssertion( "MIM:617920"^^xsd:string) AnnotationAssertion( "ACD"^^xsd:string) AnnotationAssertion( "PLCA3"^^xsd:string) AnnotationAssertion( "amyloidosis cutis dyschromica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080932"^^xsd:string) AnnotationAssertion(rdfs:label "primary localized cutaneous amyloidosis 3"^^xsd:string) SubClassOf( ) # Class: (immunoglobulin light chain amyloidosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26771835/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/"^^xsd:string) "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:31:04Z"^^xsd:string) AnnotationAssertion( "DOID:9005869"^^xsd:string) AnnotationAssertion( "ICD10CM:E85.81"^^xsd:string) AnnotationAssertion( "MESH:D000075363"^^xsd:string) AnnotationAssertion( "MONDO:0019438"^^xsd:string) AnnotationAssertion( "NCI:C158963"^^xsd:string) AnnotationAssertion( "AL amyloidosis"^^xsd:string) AnnotationAssertion( "Light chain amyloidosis"^^xsd:string) AnnotationAssertion( "Primary AL amyloidosis"^^xsd:string) AnnotationAssertion( "Primary Amyloidosis"^^xsd:string) AnnotationAssertion( "Primary Systemic Amyloidosis"^^xsd:string) AnnotationAssertion( "Primary systemic AL amyloidosis"^^xsd:string) AnnotationAssertion( "primary amyloid"^^xsd:string) AnnotationAssertion( "systemic AL amyloidsis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080933"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin light chain amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin heavy chain amyloidosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32703752/"^^xsd:string) "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:34:07Z"^^xsd:string) AnnotationAssertion( "ORDO:442582"^^xsd:string) AnnotationAssertion( "AH amyloidosis"^^xsd:string) AnnotationAssertion( "Amyloidosis derived from immunoglobulin heavy chain"^^xsd:string) AnnotationAssertion( "Heavy chain amyloidosis"^^xsd:string) AnnotationAssertion( "Ig heavy-chainâ??associated amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080934"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin heavy chain amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunoglobulin heavy-and-light chain) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23302715/"^^xsd:string) "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:35:58Z"^^xsd:string) AnnotationAssertion( "AH/AL amyloidosis"^^xsd:string) AnnotationAssertion( "Ig heavy-and-light-chain amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080935"^^xsd:string) AnnotationAssertion(rdfs:label "immunoglobulin heavy-and-light chain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (serum amyloid A amyloidosis) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa"^^xsd:string) "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:36:56Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E85.3"^^xsd:string) AnnotationAssertion( "AA amyloidosis"^^xsd:string) AnnotationAssertion( "Apo serum amyloid A amyloidosis"^^xsd:string) AnnotationAssertion( "inflammation AA amyloidosis"^^xsd:string) AnnotationAssertion( "secondary amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080936"^^xsd:string) AnnotationAssertion(rdfs:label "serum amyloid A amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (wild-type amyloidosis) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr"^^xsd:string) "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T21:38:35Z"^^xsd:string) AnnotationAssertion( "ATTRwt amyloidosis"^^xsd:string) AnnotationAssertion( "Age related amyloidosis"^^xsd:string) AnnotationAssertion( "Old age amyloidosis"^^xsd:string) AnnotationAssertion( "senile systemic amyloidosis"^^xsd:string) AnnotationAssertion( "wild-type ATTR amyloidosis"^^xsd:string) AnnotationAssertion( "wild-type transthyretin cardiac amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080937"^^xsd:string) AnnotationAssertion(rdfs:label "wild-type amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonobstructive coronary artery disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25369489/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/"^^xsd:string) "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:11:48Z"^^xsd:string) AnnotationAssertion( "EFO:1001483"^^xsd:string) AnnotationAssertion( "non-CAD"^^xsd:string) AnnotationAssertion( "non-obstructive coronary artery disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080938"^^xsd:string) AnnotationAssertion(rdfs:label "nonobstructive coronary artery disease"^^xsd:string) SubClassOf( ) # Class: (hereditary angioedema type I) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11161971/"^^xsd:string) "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:13:17Z"^^xsd:string) AnnotationAssertion( "DOID:9003826"^^xsd:string) AnnotationAssertion( "hereditary angioedema types I and II"^^xsd:string) AnnotationAssertion( "MESH:D056829"^^xsd:string) AnnotationAssertion( "MIM:106100"^^xsd:string) AnnotationAssertion( "MONDO:0033946"^^xsd:string) AnnotationAssertion( "HAE1"^^xsd:string) AnnotationAssertion( "HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY"^^xsd:string) AnnotationAssertion( "deficiency of C1 esterase inhibitor"^^xsd:string) AnnotationAssertion( "hereditary C1 esterase inhibitor deficiency - dysfunctional factor"^^xsd:string) AnnotationAssertion( "hereditary angioedema type 1"^^xsd:string) AnnotationAssertion( "hereditary angioedema, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HAE2"^^xsd:string) AnnotationAssertion( "hereditary angioedema type II"^^xsd:string) AnnotationAssertion( "DOID:0080939"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary angioedema type I"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary angioedema type III) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16638441/"^^xsd:string) "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:17:35Z"^^xsd:string) AnnotationAssertion( "DOID:9004475"^^xsd:string) AnnotationAssertion( "MIM:610618"^^xsd:string) AnnotationAssertion( "MESH:D056828"^^xsd:string) AnnotationAssertion( "Estrogen Sensitive HAE"^^xsd:string) AnnotationAssertion( "Estrogen Sensitive Hereditary Angioedema"^^xsd:string) AnnotationAssertion( "Estrogen-Sensitive Hereditary Angioedemas"^^xsd:string) AnnotationAssertion( "HAE III"^^xsd:string) AnnotationAssertion( "HAE with normal C1 inhibitor concentration and function"^^xsd:string) AnnotationAssertion( "HAE3"^^xsd:string) AnnotationAssertion( "estrogen related HAE"^^xsd:string) AnnotationAssertion( "hereditary angioedema 3"^^xsd:string) AnnotationAssertion( "hereditary angioedema with normal C1 inhibitor activity"^^xsd:string) AnnotationAssertion( "hereditary angioneurotic edema with normal C1 inhibitor concentration and function"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080940"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary angioedema type III"^^xsd:string) SubClassOf( ) # Class: (acquired angioedema) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK430889/"^^xsd:string) "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:19:33Z"^^xsd:string) AnnotationAssertion( "DOID:9003616"^^xsd:string) AnnotationAssertion( "DOID:9005537"^^xsd:string) AnnotationAssertion( "MIM:300909"^^xsd:string) AnnotationAssertion( "MESH:C538173"^^xsd:string) AnnotationAssertion( "AEACEI"^^xsd:string) AnnotationAssertion( "Angioedema Induced by ACE Inhibitors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "angioedema induced by ace inhibitors, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0080941"^^xsd:string) AnnotationAssertion(rdfs:label "acquired angioedema"^^xsd:string) SubClassOf( ) # Class: (anauxetic dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK84550/"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T17:53:20Z"^^xsd:string) AnnotationAssertion( "DOID:9009210"^^xsd:string) AnnotationAssertion( "MIM:PS607095"^^xsd:string) AnnotationAssertion( "ORDO:93347"^^xsd:string) AnnotationAssertion( "anauxetic dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080942"^^xsd:string) AnnotationAssertion(rdfs:label "anauxetic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XX sex reversal 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29478779/"^^xsd:string) "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:26:15Z"^^xsd:string) AnnotationAssertion( "DOID:9009108"^^xsd:string) AnnotationAssertion( "MIM:618901"^^xsd:string) AnnotationAssertion( "SRXX5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080943"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial Behcet-like autoinflammatory syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26642243/"^^xsd:string) "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:29:30Z"^^xsd:string) AnnotationAssertion( "DOID:9003185"^^xsd:string) AnnotationAssertion( "EFO:0020034"^^xsd:string) AnnotationAssertion( "MIM:616744"^^xsd:string) AnnotationAssertion( "A20 haploinsufficiency"^^xsd:string) AnnotationAssertion( "AIFBL1"^^xsd:string) AnnotationAssertion( "AISBL"^^xsd:string) AnnotationAssertion( "TNFAIP3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080944"^^xsd:string) AnnotationAssertion(rdfs:label "familial Behcet-like autoinflammatory syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31358993/"^^xsd:string) "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:33:57Z"^^xsd:string) AnnotationAssertion( "DOID:9002105"^^xsd:string) AnnotationAssertion( "MIM:618620"^^xsd:string) AnnotationAssertion( "AOMS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080945"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome 4"^^xsd:string) SubClassOf( ) # Class: (retinal dystrophy with leukodystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27799409/"^^xsd:string) "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-14T13:34:34Z"^^xsd:string) AnnotationAssertion( "DOID:9003874"^^xsd:string) AnnotationAssertion( "EFO:0010738"^^xsd:string) AnnotationAssertion( "MIM:618863"^^xsd:string) AnnotationAssertion( "ACBD5 deficiency"^^xsd:string) AnnotationAssertion( "RDLKD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080946"^^xsd:string) AnnotationAssertion(rdfs:label "retinal dystrophy with leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute flaccid myelitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/"^^xsd:string) "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:41:54Z"^^xsd:string) AnnotationAssertion( "MESH:C000629404"^^xsd:string) AnnotationAssertion( "acute flaccid paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080947"^^xsd:string) AnnotationAssertion(rdfs:label "acute flaccid myelitis"^^xsd:string) SubClassOf( ) # Class: (agenesis of corpus callosum, cardiac, ocular, and genital syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31585109/"^^xsd:string) "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-09-03T17:00:13Z"^^xsd:string) AnnotationAssertion( "DOID:9003161"^^xsd:string) AnnotationAssertion( "MIM:618929"^^xsd:string) AnnotationAssertion( "ACOGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080948"^^xsd:string) AnnotationAssertion(rdfs:label "agenesis of corpus callosum, cardiac, ocular, and genital syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alcoholic ketoacidosis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000323.htm"^^xsd:string) "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:47:13Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080949"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic ketoacidosis"^^xsd:string) SubClassOf( ) # Class: (alopecia-mental retardation syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30723320/"^^xsd:string) "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-08T12:55:10Z"^^xsd:string) AnnotationAssertion( "DOID:9008723"^^xsd:string) AnnotationAssertion( "MIM:618840"^^xsd:string) AnnotationAssertion( "MONDO:0030009"^^xsd:string) AnnotationAssertion( "APMR4"^^xsd:string) AnnotationAssertion( "alopecia-intellectual disability syndrome 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080950"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia-mental retardation syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alopecia-mental retardation syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17451405/"^^xsd:string) "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T18:52:32Z"^^xsd:string) AnnotationAssertion( "DOID:9005500"^^xsd:string) AnnotationAssertion( "MIM:613930"^^xsd:string) AnnotationAssertion( "APMR3"^^xsd:string) AnnotationAssertion( "alopecia-intellectual disability syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080951"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia-mental retardation syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (AMED syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33355142/"^^xsd:string) "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-02-09T13:44:23Z"^^xsd:string) AnnotationAssertion( "DOID:9000959"^^xsd:string) AnnotationAssertion( "MIM:619151"^^xsd:string) AnnotationAssertion( "NCI:C185246"^^xsd:string) AnnotationAssertion( "AMED SYNDROME, DIGENIC"^^xsd:string) AnnotationAssertion( "AMEDS"^^xsd:string) AnnotationAssertion( "BMFS7"^^xsd:string) AnnotationAssertion( "BONE MARROW FAILURE SYNDROME 7, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080952"^^xsd:string) AnnotationAssertion(rdfs:label "AMED syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1J) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27843125/"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T19:00:06Z"^^xsd:string) AnnotationAssertion( "DOID:9002499"^^xsd:string) AnnotationAssertion( "EFO:0009302"^^xsd:string) AnnotationAssertion( "MIM:617297"^^xsd:string) AnnotationAssertion( "MONDO:0015008"^^xsd:string) AnnotationAssertion( "AI1J"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta Type IJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080953"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1J"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arthrogryposis multiplex congenita) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis"^^xsd:string) Annotation( "https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita"^^xsd:string) "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T19:02:48Z"^^xsd:string) AnnotationAssertion( "DOID:0110631"^^xsd:string) AnnotationAssertion( "DOID:9000338"^^xsd:string) AnnotationAssertion( "MESH:C564985"^^xsd:string) AnnotationAssertion( "EFO:0003857"^^xsd:string) AnnotationAssertion( "GARD:777"^^xsd:string) AnnotationAssertion( "ICD10CM:M62.8"^^xsd:string) AnnotationAssertion( "MESH:D001176"^^xsd:string) AnnotationAssertion( "MIM:PS617468"^^xsd:string) AnnotationAssertion( "NCI:C84572"^^xsd:string) AnnotationAssertion( "Arthrogryposis"^^xsd:string) AnnotationAssertion( "Congenital Arthromyodysplasia"^^xsd:string) AnnotationAssertion( "Congenital Arthromyodysplasias"^^xsd:string) AnnotationAssertion( "Congenital Multiple Arthrogryposes"^^xsd:string) AnnotationAssertion( "Congenital Multiple Arthrogryposis"^^xsd:string) AnnotationAssertion( "Fibrous Ankylosis of Multiple Joints"^^xsd:string) AnnotationAssertion( "Guerin Stern Syndrome"^^xsd:string) AnnotationAssertion( "Guérin Stern Syndrome"^^xsd:string) AnnotationAssertion( "Myodystrophia Fetalis Deformans"^^xsd:string) AnnotationAssertion( "Otto syndrome"^^xsd:string) AnnotationAssertion( "Rocher Sheldon syndrome"^^xsd:string) AnnotationAssertion( "Rossi syndrome"^^xsd:string) AnnotationAssertion( "amyoplasia congenita"^^xsd:string) AnnotationAssertion( "arthrogryposes"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita (AMC)"^^xsd:string) AnnotationAssertion( "muscular dystrophy and arthrogryposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "arthrogryposis due to muscular dystrophy"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy producing arthrogryposis"^^xsd:string) AnnotationAssertion( "DOID:0080954"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772"^^xsd:string) "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T19:11:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6772"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080956"^^xsd:string) AnnotationAssertion(rdfs:label "childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string) SubClassOf( ) # Class: (primary hypoalphalipoproteinemia 1) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/"^^xsd:string) "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T19:13:54Z"^^xsd:string) AnnotationAssertion( "DOID:9001933"^^xsd:string) AnnotationAssertion( "MIM:604091"^^xsd:string) AnnotationAssertion( "ABCA1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:2872"^^xsd:string) AnnotationAssertion( "MESH:C538394"^^xsd:string) AnnotationAssertion( "Familial HDL Deficiency"^^xsd:string) AnnotationAssertion( "HDL deficiency, type 2"^^xsd:string) AnnotationAssertion( "familial HDL lipoprotein deficiency disease"^^xsd:string) AnnotationAssertion( "familial high density lipoprotein deficiency"^^xsd:string) AnnotationAssertion( "familial high density lipoprotein deficiency disease"^^xsd:string) AnnotationAssertion( "low serum HDL cholesterol"^^xsd:string) AnnotationAssertion( "primary hypoalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "primary hypoalphalipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABCA1 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:0080957"^^xsd:string) AnnotationAssertion(rdfs:label "primary hypoalphalipoproteinemia 1"^^xsd:string) SubClassOf( ) # Class: (primary hypoalphalipoproteinemia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29396262/"^^xsd:string) "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:12:56Z"^^xsd:string) AnnotationAssertion( "DOID:9006651"^^xsd:string) AnnotationAssertion( "MIM:619836"^^xsd:string) AnnotationAssertion( "GARD:758"^^xsd:string) AnnotationAssertion( "MIM:618463"^^xsd:string) AnnotationAssertion( "ORDO:425"^^xsd:string) AnnotationAssertion( "APOA1 Deficiency"^^xsd:string) AnnotationAssertion( "APOA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY"^^xsd:string) AnnotationAssertion( "apolipoprotein A-I deficiency"^^xsd:string) AnnotationAssertion( "deficiency of apolipoprotein A-I"^^xsd:string) AnnotationAssertion( "absence of apolipoprotein a-1, due to deletion of apoa1/apoc3/apoa4 gene complex"^^xsd:string) AnnotationAssertion( "primary hypoalphalipoproteinemia 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "primary hypoalphalipoproteinemia 2, intermediate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOLIPOPROTEIN A-I (BALTIMORE)"^^xsd:string) AnnotationAssertion( "DOID:0080958"^^xsd:string) AnnotationAssertion(rdfs:label "primary hypoalphalipoproteinemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28280076/"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-24T12:17:06Z"^^xsd:string) AnnotationAssertion( "DOID:9005146"^^xsd:string) AnnotationAssertion( "MIM:618920"^^xsd:string) AnnotationAssertion( "ARVC14"^^xsd:string) AnnotationAssertion( "ARVD14"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 14"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080959"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 2A6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3150442/"^^xsd:string) "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:25:39Z"^^xsd:string) AnnotationAssertion( "DOID:9006208"^^xsd:string) AnnotationAssertion( "MIM:617217"^^xsd:string) AnnotationAssertion( "AI2A6"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta Hypomaturation Type, 2A6"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta, Hypomaturation Type, IIA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080960"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 2A6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anauxetic dysplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28067412/"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9005915"^^xsd:string) AnnotationAssertion( "MIM:617396"^^xsd:string) AnnotationAssertion( "ANXD2"^^xsd:string) AnnotationAssertion( "POP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080962"^^xsd:string) AnnotationAssertion(rdfs:label "anauxetic dysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anauxetic dysplasia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31250547/"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-24T08:34:54Z"^^xsd:string) AnnotationAssertion( "DOID:9000259"^^xsd:string) AnnotationAssertion( "MIM:618853"^^xsd:string) AnnotationAssertion( "ANXD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080963"^^xsd:string) AnnotationAssertion(rdfs:label "anauxetic dysplasia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:32:16Z"^^xsd:string) AnnotationAssertion( "DOID:9007437"^^xsd:string) AnnotationAssertion( "MIM:105800"^^xsd:string) AnnotationAssertion( "MESH:C566284"^^xsd:string) AnnotationAssertion( "ANIB1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080964"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14872410/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:33:51Z"^^xsd:string) AnnotationAssertion( "DOID:9003407"^^xsd:string) AnnotationAssertion( "MIM:608542"^^xsd:string) AnnotationAssertion( "MESH:C536360"^^xsd:string) AnnotationAssertion( "ANIB2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080965"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 2"^^xsd:string) SubClassOf( ) # Class: (intracranial berry aneurysm 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:35:37Z"^^xsd:string) AnnotationAssertion( "DOID:9008738"^^xsd:string) AnnotationAssertion( "MIM:609122"^^xsd:string) AnnotationAssertion( "MESH:C563792"^^xsd:string) AnnotationAssertion( "ANIB3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080966"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:37:19Z"^^xsd:string) AnnotationAssertion( "DOID:9008074"^^xsd:string) AnnotationAssertion( "MIM:610213"^^xsd:string) AnnotationAssertion( "MESH:C565700"^^xsd:string) AnnotationAssertion( "ANIB4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080967"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:39:18Z"^^xsd:string) AnnotationAssertion( "DOID:9002709"^^xsd:string) AnnotationAssertion( "MIM:300870"^^xsd:string) AnnotationAssertion( "MESH:C563670"^^xsd:string) AnnotationAssertion( "ANIB5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080968"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:41:09Z"^^xsd:string) AnnotationAssertion( "DOID:9005481"^^xsd:string) AnnotationAssertion( "MIM:611892"^^xsd:string) AnnotationAssertion( "MESH:C567500"^^xsd:string) AnnotationAssertion( "ANIB6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080969"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:43:14Z"^^xsd:string) AnnotationAssertion( "DOID:9007029"^^xsd:string) AnnotationAssertion( "MIM:612161"^^xsd:string) AnnotationAssertion( "MESH:C567406"^^xsd:string) AnnotationAssertion( "ANIB7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080970"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:45:01Z"^^xsd:string) AnnotationAssertion( "DOID:9005195"^^xsd:string) AnnotationAssertion( "MIM:612162"^^xsd:string) AnnotationAssertion( "MESH:C567405"^^xsd:string) AnnotationAssertion( "ANIB8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080971"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:47:03Z"^^xsd:string) AnnotationAssertion( "DOID:9006568"^^xsd:string) AnnotationAssertion( "MIM:612586"^^xsd:string) AnnotationAssertion( "MESH:C567238"^^xsd:string) AnnotationAssertion( "Anib9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080972"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial berry aneurysm 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:48:55Z"^^xsd:string) AnnotationAssertion( "DOID:9008930"^^xsd:string) AnnotationAssertion( "MIM:612587"^^xsd:string) AnnotationAssertion( "MESH:C567237"^^xsd:string) AnnotationAssertion( "ANIB10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080973"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 10"^^xsd:string) SubClassOf( ) # Class: (intracranial berry aneurysm 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:51:40Z"^^xsd:string) AnnotationAssertion( "DOID:9000089"^^xsd:string) AnnotationAssertion( "MIM:614252"^^xsd:string) AnnotationAssertion( "ANIB11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080974"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 11"^^xsd:string) SubClassOf( ) # Class: (intracranial berry aneurysm 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16736093/"^^xsd:string) "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-13T11:12:27Z"^^xsd:string) AnnotationAssertion( "DOID:9001608"^^xsd:string) AnnotationAssertion( "MIM:618734"^^xsd:string) AnnotationAssertion( "ANIB12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080975"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial berry aneurysm 12"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with BCR-ABL1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27297971/"^^xsd:string) "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:55:21Z"^^xsd:string) AnnotationAssertion( "ICDO:9912/3"^^xsd:string) AnnotationAssertion( "NCI:C129785"^^xsd:string) AnnotationAssertion( "Acute myeleoid leukemia with BCR-ABL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080976"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with BCR-ABL1"^^xsd:string) SubClassOf( ) # Class: (aortic valve disease 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30455415/"^^xsd:string) "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-15T08:40:09Z"^^xsd:string) AnnotationAssertion( "DOID:9004010"^^xsd:string) AnnotationAssertion( "MIM:618496"^^xsd:string) AnnotationAssertion( "AOVD3"^^xsd:string) AnnotationAssertion( "ROBO4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080977"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (arthrogryposis multiplex congenita-1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28318499/"^^xsd:string) "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T20:59:30Z"^^xsd:string) AnnotationAssertion( "DOID:9002454"^^xsd:string) AnnotationAssertion( "MIM:617468"^^xsd:string) AnnotationAssertion( "AMC1"^^xsd:string) AnnotationAssertion( "AMCNMY"^^xsd:string) AnnotationAssertion( "LGI4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "neurogenic arthrogryposis multiplex congenita 1, with myelin defect"^^xsd:string) AnnotationAssertion( "neurogenic arthrogryposis multiplex congenita, with myelin defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080978"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita-1"^^xsd:string) SubClassOf( ) # Class: (arthrogryposis multiplex congenita-3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27782104/"^^xsd:string) "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-13T13:50:03Z"^^xsd:string) AnnotationAssertion( "DOID:9000909"^^xsd:string) AnnotationAssertion( "MIM:618484"^^xsd:string) AnnotationAssertion( "AMC3"^^xsd:string) AnnotationAssertion( "AMCM"^^xsd:string) AnnotationAssertion( "Arthrogryposis Multiplex Congenita 3, Myogenic Type"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita, myogenic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080979"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita-3"^^xsd:string) SubClassOf( ) # Class: (arthrogryposis multiplex congenita-4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31960134/"^^xsd:string) "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-12T16:39:23Z"^^xsd:string) AnnotationAssertion( "DOID:9008459"^^xsd:string) AnnotationAssertion( "MIM:618766"^^xsd:string) AnnotationAssertion( "AMC4"^^xsd:string) AnnotationAssertion( "AMCNACC"^^xsd:string) AnnotationAssertion( "Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum"^^xsd:string) AnnotationAssertion( "Zain syndrome"^^xsd:string) AnnotationAssertion( "neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080980"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita-4"^^xsd:string) SubClassOf( ) # Class: (arthrogryposis multiplex congenita-5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29053766/"^^xsd:string) "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-03T12:45:12Z"^^xsd:string) AnnotationAssertion( "DOID:9008886"^^xsd:string) AnnotationAssertion( "MIM:618947"^^xsd:string) AnnotationAssertion( "AMC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080981"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis multiplex congenita-5"^^xsd:string) SubClassOf( ) # Class: (X-linked mental retardation-hypotonic facies syndrome-1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15508018/"^^xsd:string) "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:19:04Z"^^xsd:string) AnnotationAssertion( "DOID:9005524"^^xsd:string) AnnotationAssertion( "MIM:309580"^^xsd:string) AnnotationAssertion( "ATRX-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C537457"^^xsd:string) AnnotationAssertion( "Carpenter-Waziri syndrome"^^xsd:string) AnnotationAssertion( "Chudley mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Chudley syndrome 1"^^xsd:string) AnnotationAssertion( "Chudley-Lowry syndrome"^^xsd:string) AnnotationAssertion( "Chudley-Lowry-Hoar syndrome"^^xsd:string) AnnotationAssertion( "Holmes-Gang syndrome"^^xsd:string) AnnotationAssertion( "MRXHF1"^^xsd:string) AnnotationAssertion( "SFM1"^^xsd:string) AnnotationAssertion( "SFMS"^^xsd:string) AnnotationAssertion( "Smith-Fineman-Myers syndrome 1"^^xsd:string) AnnotationAssertion( "X-Linked Mental Retardation-Hypotonic Facies Syndrome"^^xsd:string) AnnotationAssertion( "X-linked hypogonadism gynecomastia mental retardation"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-hypotonic facies syndrome"^^xsd:string) AnnotationAssertion( "XLMR-hypotonic facies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080982"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked mental retardation-hypotonic facies syndrome-1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked intellectual developmental disorder 109) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21739600/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-15T10:43:24Z"^^xsd:string) AnnotationAssertion( "DOID:9002187"^^xsd:string) AnnotationAssertion( "GARD:2378"^^xsd:string) AnnotationAssertion( "MIM:309548"^^xsd:string) AnnotationAssertion( "ORDO:100973"^^xsd:string) AnnotationAssertion( "FRAXE mental retardation syndrome"^^xsd:string) AnnotationAssertion( "FRAXE syndrome"^^xsd:string) AnnotationAssertion( "FRAXE syndromes"^^xsd:string) AnnotationAssertion( "Fragile XE syndrome"^^xsd:string) AnnotationAssertion( "MRX109"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 109"^^xsd:string) AnnotationAssertion( "X-linked mental retardation associated with fragile site FRAXE"^^xsd:string) AnnotationAssertion( "XLID109"^^xsd:string) AnnotationAssertion( "fragile site on chromosome Xq28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080984"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked intellectual developmental disorder 109"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual disorder Lujan-Fryns-type) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/lujan-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1676/"^^xsd:string) "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:27:14Z"^^xsd:string) AnnotationAssertion( "DOID:9001908"^^xsd:string) AnnotationAssertion( "MIM:309520"^^xsd:string) AnnotationAssertion( "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "GARD:3307"^^xsd:string) AnnotationAssertion( "MESH:C537724"^^xsd:string) AnnotationAssertion( "Lujan syndrome"^^xsd:string) AnnotationAssertion( "Lujan-Fryns syndrome"^^xsd:string) AnnotationAssertion( "MRXSLF"^^xsd:string) AnnotationAssertion( "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies"^^xsd:string) AnnotationAssertion( "X-Linked Intellectual Deficit with Marfanoid Habitus"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with marfanoid habitus"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with marfanoid habitus 1"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with marfanoid habitus syndrome"^^xsd:string) AnnotationAssertion( "XLMR with Marfanoid Features"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Lujan-Fryns type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080985"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disorder Lujan-Fryns-type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome periodontal type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27745832/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:30:50Z"^^xsd:string) AnnotationAssertion( "DOID:9004784"^^xsd:string) AnnotationAssertion( "MIM:130080"^^xsd:string) AnnotationAssertion( "MESH:C562626"^^xsd:string) AnnotationAssertion( "EDS VIII"^^xsd:string) AnnotationAssertion( "EDS8"^^xsd:string) AnnotationAssertion( "EDSPD1"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome Type 8"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Periodontitis Type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Periodontosis Type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080986"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome periodontal type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome periodontal type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27745832/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:33:13Z"^^xsd:string) AnnotationAssertion( "DOID:9002437"^^xsd:string) AnnotationAssertion( "GARD:12474"^^xsd:string) AnnotationAssertion( "MIM:617174"^^xsd:string) AnnotationAssertion( "ORDO:75392"^^xsd:string) AnnotationAssertion( "EDSPD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080987"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome periodontal type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pretibial dystrophic epidermolysis bullosa) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7738360/"^^xsd:string) "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:35:49Z"^^xsd:string) AnnotationAssertion( "DOID:9001453"^^xsd:string) AnnotationAssertion( "MIM:131850"^^xsd:string) AnnotationAssertion( "GARD:2155"^^xsd:string) AnnotationAssertion( "MESH:C535494"^^xsd:string) AnnotationAssertion( "ORDO:79410"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Dystrophica, Pretibial"^^xsd:string) AnnotationAssertion( "Pretibial Epidermolysis Bullosa"^^xsd:string) AnnotationAssertion( "pretibial DEB"^^xsd:string) AnnotationAssertion( "pretibial epidermolysis bullosa, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080988"^^xsd:string) AnnotationAssertion(rdfs:label "pretibial dystrophic epidermolysis bullosa"^^xsd:string) SubClassOf( ) # Class: (King Denborough syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1146/"^^xsd:string) "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-08T15:36:30Z"^^xsd:string) AnnotationAssertion( "DOID:9003967"^^xsd:string) AnnotationAssertion( "MIM:619542"^^xsd:string) AnnotationAssertion( "GARD:8433"^^xsd:string) AnnotationAssertion( "MESH:C536883"^^xsd:string) AnnotationAssertion( "ORDO:99741"^^xsd:string) AnnotationAssertion( "Anesthetic-induced malignant hyperpyrexia in children"^^xsd:string) AnnotationAssertion( "King syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080990"^^xsd:string) AnnotationAssertion(rdfs:label "King Denborough syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11731287/"^^xsd:string) "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-08T15:40:18Z"^^xsd:string) AnnotationAssertion( "DOID:9004586"^^xsd:string) AnnotationAssertion( "MIM:255320"^^xsd:string) AnnotationAssertion( "GARD:10316"^^xsd:string) AnnotationAssertion( "MESH:C564969"^^xsd:string) AnnotationAssertion( "NCI:C150608"^^xsd:string) AnnotationAssertion( "ORDO:598"^^xsd:string) AnnotationAssertion( "CMYP1B"^^xsd:string) AnnotationAssertion( "Multicore Disease"^^xsd:string) AnnotationAssertion( "Multicore Myopathy"^^xsd:string) AnnotationAssertion( "Multicore Myopathy With External Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "congenital myopathy 1B, autosomal recessive"^^xsd:string) AnnotationAssertion( "minicore disease"^^xsd:string) AnnotationAssertion( "minicore myopathy"^^xsd:string) AnnotationAssertion( "minicore myopathy with external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "multi-minicore disease"^^xsd:string) AnnotationAssertion( "multiminicore disease"^^xsd:string) AnnotationAssertion( "multiminicore disease with external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "multiminicore myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080991"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rhabdomyolysis-myalgia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/"^^xsd:string) "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-08T15:44:31Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080992"^^xsd:string) AnnotationAssertion(rdfs:label "rhabdomyolysis-myalgia syndrome"^^xsd:string) SubClassOf( ) # Class: (autoimmune epilepsy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27112680/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/"^^xsd:string) "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:41:46Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080994"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberculous encephalopathy) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us"^^xsd:string) "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:43:51Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080995"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous encephalopathy"^^xsd:string) SubClassOf( ) # Class: (diffuse large B-cell lymphoma activated B-cell type) AnnotationAssertion(Annotation( "https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081"^^xsd:string) "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:46:08Z"^^xsd:string) AnnotationAssertion( "NCI:C36081"^^xsd:string) AnnotationAssertion( "DLBCL ABC type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080996"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse large B-cell lymphoma activated B-cell type"^^xsd:string) SubClassOf( ) # Class: (diffuse large B-cell lymphoma germinal center B-cell type) AnnotationAssertion(Annotation( "https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080"^^xsd:string) "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:47:22Z"^^xsd:string) AnnotationAssertion( "NCI:C36080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080997"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse large B-cell lymphoma germinal center B-cell type"^^xsd:string) SubClassOf( ) # Class: (acute necrotizing pancreatitis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28381378/"^^xsd:string) "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:48:29Z"^^xsd:string) AnnotationAssertion( "DOID:9006745"^^xsd:string) AnnotationAssertion( "MESH:D019283"^^xsd:string) AnnotationAssertion( "necrotizing pancreatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080998"^^xsd:string) AnnotationAssertion(rdfs:label "acute necrotizing pancreatitis"^^xsd:string) SubClassOf( ) # Class: (acute hemorrhagic pancreatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/"^^xsd:string) "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:53:52Z"^^xsd:string) AnnotationAssertion( "DOID:9000500"^^xsd:string) AnnotationAssertion( "MESH:D000081032"^^xsd:string) AnnotationAssertion( "Acute Haemorrhagic Pancreatitis"^^xsd:string) AnnotationAssertion( "Hemorrhagic Pancreatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0080999"^^xsd:string) AnnotationAssertion(rdfs:label "acute hemorrhagic pancreatitis"^^xsd:string) SubClassOf( ) # Class: (Cowden syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21177507/"^^xsd:string) "A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:56:24Z"^^xsd:string) AnnotationAssertion( "DOID:9000532"^^xsd:string) AnnotationAssertion( "MIM:615107"^^xsd:string) AnnotationAssertion( "CWS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081000"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Cowden syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23246288/"^^xsd:string) "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T12:59:14Z"^^xsd:string) AnnotationAssertion( "DOID:9002318"^^xsd:string) AnnotationAssertion( "MIM:615108"^^xsd:string) AnnotationAssertion( "CWS5"^^xsd:string) AnnotationAssertion( "Cowden disease 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081001"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Cowden syndrome 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23246288/"^^xsd:string) "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T13:01:05Z"^^xsd:string) AnnotationAssertion( "DOID:9002136"^^xsd:string) AnnotationAssertion( "MIM:615109"^^xsd:string) AnnotationAssertion( "CWS6"^^xsd:string) AnnotationAssertion( "Cowden disease 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081002"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Cowden syndrome 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26522472/"^^xsd:string) "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T13:02:50Z"^^xsd:string) AnnotationAssertion( "DOID:9001093"^^xsd:string) AnnotationAssertion( "MIM:616858"^^xsd:string) AnnotationAssertion( "CWS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081003"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden syndrome 7"^^xsd:string) SubClassOf( ) # Class: (high-grade B-cell lymphoma double-hit/triple-hit) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29475959/"^^xsd:string) "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T13:05:05Z"^^xsd:string) AnnotationAssertion( "MONDO:0850426"^^xsd:string) AnnotationAssertion( "NCI:C125904"^^xsd:string) AnnotationAssertion( "HGBL-DH/TH"^^xsd:string) AnnotationAssertion( "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081004"^^xsd:string) AnnotationAssertion(rdfs:label "high-grade B-cell lymphoma double-hit/triple-hit"^^xsd:string) SubClassOf( ) # Class: (parsley allergy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25648063/"^^xsd:string) "A vegetable allergy triggered by parsley (Petroselinum). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T18:39:24Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081005"^^xsd:string) AnnotationAssertion(rdfs:label "parsley allergy"^^xsd:string) SubClassOf( ) # Class: (dill allergy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10831013/"^^xsd:string) "A food allergy triggered by dill (Anethum graveolens). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T18:40:51Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081006"^^xsd:string) AnnotationAssertion(rdfs:label "dill allergy"^^xsd:string) SubClassOf( ) # Class: (RNASET2-deficient cystic leukoencephalopathy) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms"^^xsd:string) "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T18:45:48Z"^^xsd:string) AnnotationAssertion( "DOID:9000690"^^xsd:string) AnnotationAssertion( "MIM:612951"^^xsd:string) AnnotationAssertion( "GARD:13199"^^xsd:string) AnnotationAssertion( "MESH:C567845"^^xsd:string) AnnotationAssertion( "ORDO:85136"^^xsd:string) AnnotationAssertion( "Cystic Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "Cystic Leukoencephalopathy without Megalencephaly"^^xsd:string) AnnotationAssertion( "infantile-onset RNASET2 deficient cystic leukoencephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081007"^^xsd:string) AnnotationAssertion(rdfs:label "RNASET2-deficient cystic leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intellectual developmental disorder with cardiac arrhythmia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27523599/"^^xsd:string) "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T18:51:05Z"^^xsd:string) AnnotationAssertion( "DOID:9007723"^^xsd:string) AnnotationAssertion( "MIM:617173"^^xsd:string) AnnotationAssertion( "NCI:C164154"^^xsd:string) AnnotationAssertion( "ORDO:542306"^^xsd:string) AnnotationAssertion( "GNB5-related intellectual disability-cardiac arrhythmia syndrome"^^xsd:string) AnnotationAssertion( "IDDCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081008"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with cardiac arrhythmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bardet-Biedl syndrome 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24290075/"^^xsd:string) "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T19:46:08Z"^^xsd:string) AnnotationAssertion( "DOID:9002181"^^xsd:string) AnnotationAssertion( "MIM:619471"^^xsd:string) AnnotationAssertion( "BBS20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081009"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 20"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27008867/"^^xsd:string) "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T19:48:05Z"^^xsd:string) AnnotationAssertion( "DOID:9004815"^^xsd:string) AnnotationAssertion( "C8ORF37-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CFAP418-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617406"^^xsd:string) AnnotationAssertion( "BBS21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081010"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 21"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27486776/"^^xsd:string) "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-21T19:49:26Z"^^xsd:string) AnnotationAssertion( "DOID:9004483"^^xsd:string) AnnotationAssertion( "MIM:617119"^^xsd:string) AnnotationAssertion( "BBS22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BBS20 (formerly)"^^xsd:string) AnnotationAssertion( "Bardet-Biedl syndrome 20 (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0081011"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 22"^^xsd:string) SubClassOf( ) # Class: (critical COVID-19) AnnotationAssertion(Annotation( "https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1"^^xsd:string) "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:07:33Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081012"^^xsd:string) AnnotationAssertion(rdfs:label "critical COVID-19"^^xsd:string) SubClassOf( ) # Class: (severe COVID-19) AnnotationAssertion(Annotation( "https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1"^^xsd:string) "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:08:50Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19) DUE TO HIGH LEVELS OF FIBRINOGEN AND C-REACTIVE PROTEIN"^^xsd:string) AnnotationAssertion( "SUSCEPTIBILITY TO SEVERE COVID-19"^^xsd:string) AnnotationAssertion( "DOID:0081013"^^xsd:string) AnnotationAssertion(rdfs:label "severe COVID-19"^^xsd:string) SubClassOf( ) # Class: (non-severe COVID-19) AnnotationAssertion(Annotation( "https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1"^^xsd:string) "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:09:45Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081014"^^xsd:string) AnnotationAssertion(rdfs:label "non-severe COVID-19"^^xsd:string) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18214786/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:11:03Z"^^xsd:string) AnnotationAssertion( "DOID:9007664"^^xsd:string) AnnotationAssertion( "DOID:9008536"^^xsd:string) AnnotationAssertion( "MESH:C567739"^^xsd:string) AnnotationAssertion( "blepharoptosis with absent eye movements"^^xsd:string) AnnotationAssertion( "MIM:135700"^^xsd:string) AnnotationAssertion( "CFEOM1"^^xsd:string) AnnotationAssertion( "FEOM1"^^xsd:string) AnnotationAssertion( "KIF21A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CFEOM3B"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 3B"^^xsd:string) AnnotationAssertion( "DOID:0081015"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11600883/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:14:17Z"^^xsd:string) AnnotationAssertion( "DOID:9005788"^^xsd:string) AnnotationAssertion( "MIM:602078"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles, autosomal recessive"^^xsd:string) AnnotationAssertion( "MESH:C566587"^^xsd:string) AnnotationAssertion( "CFEOM2"^^xsd:string) AnnotationAssertion( "FEOM2 LOCUS"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081016"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles 3A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18214786/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:16:57Z"^^xsd:string) AnnotationAssertion( "DOID:9005277"^^xsd:string) AnnotationAssertion( "MIM:600638"^^xsd:string) AnnotationAssertion( "TUBB3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TUBB3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "TUBB3-RELATED TUBULINOPATHY"^^xsd:string) AnnotationAssertion( "MESH:C567572"^^xsd:string) AnnotationAssertion( "CFEOM3A"^^xsd:string) AnnotationAssertion( "FEOM3 LOCUS"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 3A, with or without extraocular involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081017"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles 3C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15744040/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:19:48Z"^^xsd:string) AnnotationAssertion( "DOID:9000360"^^xsd:string) AnnotationAssertion( "MIM:609384"^^xsd:string) AnnotationAssertion( "MESH:C567666"^^xsd:string) AnnotationAssertion( "CFEOM3C"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 3C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081019"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles 3C"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital fibrosis of the extraocular muscles 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25500261/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:23:35Z"^^xsd:string) AnnotationAssertion( "DOID:9008337"^^xsd:string) AnnotationAssertion( "MIM:616219"^^xsd:string) AnnotationAssertion( "CFEOM5"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081020"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosis of the extraocular muscles 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tukel syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15863670/"^^xsd:string) "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T10:26:36Z"^^xsd:string) AnnotationAssertion( "DOID:9003903"^^xsd:string) AnnotationAssertion( "MIM:609428"^^xsd:string) AnnotationAssertion( "GARD:9814"^^xsd:string) AnnotationAssertion( "MESH:C536925"^^xsd:string) AnnotationAssertion( "CFEOM-U"^^xsd:string) AnnotationAssertion( "CFEOM4"^^xsd:string) AnnotationAssertion( "congenital extraocular muscle fibrosis with ulnar hand anomalies"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles 4"^^xsd:string) AnnotationAssertion( "congenital fibrosis of extraocular muscles with ulnar hand anomalies"^^xsd:string) AnnotationAssertion( "congenital fibrosis of the extraocular muscles 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081021"^^xsd:string) AnnotationAssertion(rdfs:label "Tukel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal cone dystrophy 3B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15722315/"^^xsd:string) "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:46:03Z"^^xsd:string) AnnotationAssertion( "DOID:9007644"^^xsd:string) AnnotationAssertion( "MIM:610356"^^xsd:string) AnnotationAssertion( "GARD:10649"^^xsd:string) AnnotationAssertion( "MESH:C563678"^^xsd:string) AnnotationAssertion( "NCI:C192089"^^xsd:string) AnnotationAssertion( "ORDO:209932"^^xsd:string) AnnotationAssertion( "CDSRR"^^xsd:string) AnnotationAssertion( "CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM"^^xsd:string) AnnotationAssertion( "CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES"^^xsd:string) AnnotationAssertion( "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related"^^xsd:string) AnnotationAssertion( "KCNV2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RCD3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081022"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cone dystrophy 3B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal cone dystrophy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26560832/"^^xsd:string) "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:49:13Z"^^xsd:string) AnnotationAssertion( "DOID:9003327"^^xsd:string) AnnotationAssertion( "MIM:610478"^^xsd:string) AnnotationAssertion( "GARD:10650"^^xsd:string) AnnotationAssertion( "MESH:C566470"^^xsd:string) AnnotationAssertion( "CACNA2D4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RCD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081023"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cone dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinal cone dystrophy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15051206/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/4573331/"^^xsd:string) "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:50:46Z"^^xsd:string) AnnotationAssertion( "DOID:9001071"^^xsd:string) AnnotationAssertion( "MIM:180020"^^xsd:string) AnnotationAssertion( "GARD:3196"^^xsd:string) AnnotationAssertion( "MESH:C566719"^^xsd:string) AnnotationAssertion( "Cone Dystrophy, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "RCD1"^^xsd:string) AnnotationAssertion( "Retinal Cone Degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081024"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cone dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal cone dystrophy 3A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22901948/"^^xsd:string) "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:52:18Z"^^xsd:string) AnnotationAssertion( "DOID:9004469"^^xsd:string) AnnotationAssertion( "MIM:610024"^^xsd:string) AnnotationAssertion( "GARD:10648"^^xsd:string) AnnotationAssertion( "MESH:C566483"^^xsd:string) AnnotationAssertion( "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related"^^xsd:string) AnnotationAssertion( "RCD3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ACHM6"^^xsd:string) AnnotationAssertion( "achromatopsia 6"^^xsd:string) AnnotationAssertion( "DOID:0081025"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cone dystrophy 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign peritoneal solitary fibrous tumor) AnnotationAssertion(Annotation( "https://www.medscimonit.com/abstract/index/idArt/459077/act/3"^^xsd:string) "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:54:01Z"^^xsd:string) AnnotationAssertion( "NCI:C126357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081026"^^xsd:string) AnnotationAssertion(rdfs:label "benign peritoneal solitary fibrous tumor"^^xsd:string) SubClassOf( ) # Class: (glycogen-rich carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/"^^xsd:string) "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-15T22:59:11Z"^^xsd:string) AnnotationAssertion( "ICDO:8315/3"^^xsd:string) AnnotationAssertion( "NCI:C4153"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081028"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen-rich carcinoma"^^xsd:string) SubClassOf( ) # Class: (central conducting lymphatic anomaly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31263281/"^^xsd:string) "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-01T09:17:57Z"^^xsd:string) AnnotationAssertion( "DOID:9006808"^^xsd:string) AnnotationAssertion( "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM"^^xsd:string) AnnotationAssertion( "EPHB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EPHB4-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:617300"^^xsd:string) AnnotationAssertion( "HFASD"^^xsd:string) AnnotationAssertion( "LMPHM7"^^xsd:string) AnnotationAssertion( "central conduction lymphatic anomaly"^^xsd:string) AnnotationAssertion( "lymphatic malformation 7"^^xsd:string) AnnotationAssertion( "nonimmune hydrops fetalis and/or atrial septal defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "susceptibility to nonimmune hydrops fetalis and/or atrial septal defect"^^xsd:string) AnnotationAssertion( "DOID:0081030"^^xsd:string) AnnotationAssertion(rdfs:label "central conducting lymphatic anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (generalized lymphatic anomaly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31263281/"^^xsd:string) "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-01T09:22:28Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081031"^^xsd:string) AnnotationAssertion(rdfs:label "generalized lymphatic anomaly"^^xsd:string) SubClassOf( ) # Class: (glutatione synthetase deficiency with 5-oxoprolinuria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15990954/"^^xsd:string) "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:25:26Z"^^xsd:string) AnnotationAssertion( "MIM:266130"^^xsd:string) AnnotationAssertion( "ORDO:32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081034"^^xsd:string) AnnotationAssertion(rdfs:label "glutatione synthetase deficiency with 5-oxoprolinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed phenotype acute leukemia with BCR-ABL1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/"^^xsd:string) "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:30:10Z"^^xsd:string) AnnotationAssertion( "ICDO:9806/3"^^xsd:string) AnnotationAssertion( "NCI:C82192"^^xsd:string) AnnotationAssertion( "Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081036"^^xsd:string) AnnotationAssertion(rdfs:label "mixed phenotype acute leukemia with BCR-ABL1"^^xsd:string) SubClassOf( ) # Class: (mixed phenotype acute leukemia with MLL rearranged) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32350732/"^^xsd:string) "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:31:35Z"^^xsd:string) AnnotationAssertion( "ICDO:9807/3"^^xsd:string) AnnotationAssertion( "NCI:C82203"^^xsd:string) AnnotationAssertion( "Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081037"^^xsd:string) AnnotationAssertion(rdfs:label "mixed phenotype acute leukemia with MLL rearranged"^^xsd:string) SubClassOf( ) # Class: (mixed phenotype acute leukemia, B/myeloid) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29686566/"^^xsd:string) "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:32:38Z"^^xsd:string) AnnotationAssertion( "ICDO:9808/3"^^xsd:string) AnnotationAssertion( "NCI:C82212"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081038"^^xsd:string) AnnotationAssertion(rdfs:label "mixed phenotype acute leukemia, B/myeloid"^^xsd:string) SubClassOf( ) # Class: (mixed phenotype acute leukemia, T/myeloid) AnnotationAssertion(Annotation( "https://link.springer.com/article/10.1186/1471-2407-14-963"^^xsd:string) "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:33:57Z"^^xsd:string) AnnotationAssertion( "ICDO:9809/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081039"^^xsd:string) AnnotationAssertion(rdfs:label "mixed phenotype acute leukemia, T/myeloid"^^xsd:string) SubClassOf( ) # Class: (B-cell prolymphocytic leukemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34293709/"^^xsd:string) "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:35:46Z"^^xsd:string) AnnotationAssertion( "DOID:9007112"^^xsd:string) AnnotationAssertion( "EFO:1000102"^^xsd:string) AnnotationAssertion( "GARD:8223"^^xsd:string) AnnotationAssertion( "ICDO:9833/3"^^xsd:string) AnnotationAssertion( "MESH:D054403"^^xsd:string) AnnotationAssertion( "NCI:C4753"^^xsd:string) AnnotationAssertion( "ORDO:86852"^^xsd:string) AnnotationAssertion( "B-Cell Prolymphocytic Leukemias"^^xsd:string) AnnotationAssertion( "Prolymphocytic leukemia, B-cell type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081041"^^xsd:string) AnnotationAssertion(rdfs:label "B-cell prolymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (T-cell prolymphocytic leukemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31082044/"^^xsd:string) "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:39:22Z"^^xsd:string) AnnotationAssertion( "DOID:9007193"^^xsd:string) AnnotationAssertion( "EFO:1000560"^^xsd:string) AnnotationAssertion( "ICDO:9834/3"^^xsd:string) AnnotationAssertion( "MESH:D015461"^^xsd:string) AnnotationAssertion( "NCI:C4752"^^xsd:string) AnnotationAssertion( "NCI:C70649"^^xsd:string) AnnotationAssertion( "ORDO:86871"^^xsd:string) AnnotationAssertion( "Prolymphocytic leukemia, T-cell type"^^xsd:string) AnnotationAssertion( "T-Cell Prolymphocytic Leukemia, Somatic"^^xsd:string) AnnotationAssertion( "T-Cell Prolymphocytic Leukemias"^^xsd:string) AnnotationAssertion( "T-cell chronic leukemia"^^xsd:string) AnnotationAssertion( "T-cell chronic lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "TCLL"^^xsd:string) AnnotationAssertion( "chronic T-lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081042"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell prolymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome X-linked) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9018412/"^^xsd:string) "A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:42:39Z"^^xsd:string) AnnotationAssertion( "DOID:9001100"^^xsd:string) AnnotationAssertion( "MIM:300073"^^xsd:string) AnnotationAssertion( "GARD:2293"^^xsd:string) AnnotationAssertion( "MESH:C537921"^^xsd:string) AnnotationAssertion( "Brain malformation, growth retardation, hypokinesia and polyhydramnios"^^xsd:string) AnnotationAssertion( "Fetal Akinesia Syndrome, X-Linked"^^xsd:string) AnnotationAssertion( "Holmes Benacerraf syndrome"^^xsd:string) AnnotationAssertion( "X-linked form of fetal akinesia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081043"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome X-linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontonasal dysplasia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27920634/"^^xsd:string) "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:49:53Z"^^xsd:string) AnnotationAssertion( "DOID:9002345"^^xsd:string) AnnotationAssertion( "GARD:2392"^^xsd:string) AnnotationAssertion( "MESH:C538065"^^xsd:string) AnnotationAssertion( "MIM:PS136760"^^xsd:string) AnnotationAssertion( "NCI:C129028"^^xsd:string) AnnotationAssertion( "ORDO:391474"^^xsd:string) AnnotationAssertion( "FND"^^xsd:string) AnnotationAssertion( "FNM"^^xsd:string) AnnotationAssertion( "frontonasal dysplasias"^^xsd:string) AnnotationAssertion( "frontonasal malformation"^^xsd:string) AnnotationAssertion( "frontorhiny"^^xsd:string) AnnotationAssertion( "median facial cleft syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081044"^^xsd:string) AnnotationAssertion(rdfs:label "frontonasal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontonasal dysplasia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19409524/"^^xsd:string) "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:53:01Z"^^xsd:string) AnnotationAssertion( "DOID:9003445"^^xsd:string) AnnotationAssertion( "MIM:136760"^^xsd:string) AnnotationAssertion( "FND1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081045"^^xsd:string) AnnotationAssertion(rdfs:label "frontonasal dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontonasal dysplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22140057/"^^xsd:string) "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:55:00Z"^^xsd:string) AnnotationAssertion( "DOID:9007891"^^xsd:string) AnnotationAssertion( "MIM:613451"^^xsd:string) AnnotationAssertion( "FND2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081046"^^xsd:string) AnnotationAssertion(rdfs:label "frontonasal dysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontonasal dysplasia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20451171/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27324866/"^^xsd:string) "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T22:58:17Z"^^xsd:string) AnnotationAssertion( "DOID:9000358"^^xsd:string) AnnotationAssertion( "FND3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MIM:613456"^^xsd:string) AnnotationAssertion( "DOID:0081047"^^xsd:string) AnnotationAssertion(rdfs:label "frontonasal dysplasia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital limbs-face contractures-hypotonia-developmental delay syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25864427/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30167850/"^^xsd:string) Annotation( "https://www.nature.com/articles/s41598-019-48071-x"^^xsd:string) "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T23:00:03Z"^^xsd:string) AnnotationAssertion( "DOID:9005675"^^xsd:string) AnnotationAssertion( "NALCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NALCN-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "EFO:1001868"^^xsd:string) AnnotationAssertion( "MIM:616266"^^xsd:string) AnnotationAssertion( "ORDO:562528"^^xsd:string) AnnotationAssertion( "CLIFAHDD"^^xsd:string) AnnotationAssertion( "CLIFAHDD syndrome"^^xsd:string) AnnotationAssertion( "congenital contractures of the limbs and face, hypotonia, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081048"^^xsd:string) AnnotationAssertion(rdfs:label "congenital limbs-face contractures-hypotonia-developmental delay syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hepatosplenic T-cell lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/"^^xsd:string) "A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T23:02:42Z"^^xsd:string) AnnotationAssertion( "NCI:C8459"^^xsd:string) AnnotationAssertion( "ORDO:86882"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081049"^^xsd:string) AnnotationAssertion(rdfs:label "hepatosplenic T-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (primary cutaneous gamma-delta T-cell lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/"^^xsd:string) "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T23:05:14Z"^^xsd:string) AnnotationAssertion( "NCI:C45340"^^xsd:string) AnnotationAssertion( "Primary Cutaneous Gamma-Delta T Cell Lymphomas"^^xsd:string) AnnotationAssertion( "cutaneous gamma/delta T-cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081050"^^xsd:string) AnnotationAssertion(rdfs:label "primary cutaneous gamma-delta T-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (microcephaly, growth deficiency, seizures, and brain malformations) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26416026/"^^xsd:string) "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T07:56:24Z"^^xsd:string) AnnotationAssertion( "DOID:9008429"^^xsd:string) AnnotationAssertion( "WDR4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618346"^^xsd:string) AnnotationAssertion( "MIGSB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081051"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly, growth deficiency, seizures, and brain malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurobehavioral disorder with prenatal alcohol exposure) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27464676/"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/fasd/facts.html"^^xsd:string) "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:29:43Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081052"^^xsd:string) AnnotationAssertion(rdfs:label "neurobehavioral disorder with prenatal alcohol exposure"^^xsd:string) SubClassOf( ) # Class: (central diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15070970/"^^xsd:string) "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:30:52Z"^^xsd:string) AnnotationAssertion( "GARD:6015"^^xsd:string) AnnotationAssertion( "ORDO:178029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081055"^^xsd:string) AnnotationAssertion(rdfs:label "central diabetes insipidus"^^xsd:string) SubClassOf( ) # Class: (gestational diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32205050/"^^xsd:string) "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:34:44Z"^^xsd:string) AnnotationAssertion( "DOID:9007430"^^xsd:string) AnnotationAssertion( "MESH:C548014"^^xsd:string) AnnotationAssertion( "transient diabetes insipidus of pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081057"^^xsd:string) AnnotationAssertion(rdfs:label "gestational diabetes insipidus"^^xsd:string) SubClassOf( ) # Class: (dipsogenic diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33916272/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3455068/"^^xsd:string) "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:36:33Z"^^xsd:string) AnnotationAssertion( "DOID:9006797"^^xsd:string) AnnotationAssertion( "MESH:C548013"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081058"^^xsd:string) AnnotationAssertion(rdfs:label "dipsogenic diabetes insipidus"^^xsd:string) SubClassOf( ) # Class: (X-linked central diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15070970/"^^xsd:string) "A central diabetes insipidus that has_material_basis_in X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:38:08Z"^^xsd:string) AnnotationAssertion( "MIM:304900"^^xsd:string) AnnotationAssertion( "ORDO:30925"^^xsd:string) AnnotationAssertion( "X-linked neurohypophyseal diabetes insipidus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081059"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked central diabetes insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked nephrogenic diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11181969/"^^xsd:string) "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:47:46Z"^^xsd:string) AnnotationAssertion( "DOID:9008715"^^xsd:string) AnnotationAssertion( "AVPR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:304800"^^xsd:string) AnnotationAssertion( "NDI1"^^xsd:string) AnnotationAssertion( "Nephrogenic Diabetes Insipidus 1"^^xsd:string) AnnotationAssertion( "Nephrogenic Diabetes Insipidus, Type I"^^xsd:string) AnnotationAssertion( "X-linked nephrogenic diabetes insipidus 1"^^xsd:string) AnnotationAssertion( "XNDI"^^xsd:string) AnnotationAssertion( "nephrogenic diabetes insipidus type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081060"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked nephrogenic diabetes insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic diabetes insipidus type 2) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000511.htm"^^xsd:string) "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T09:56:58Z"^^xsd:string) AnnotationAssertion( "DOID:9005273"^^xsd:string) AnnotationAssertion( "MIM:125800"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus, Nephrogenic, Autosomal"^^xsd:string) AnnotationAssertion( "NDI2"^^xsd:string) AnnotationAssertion( "Nephrogenic Diabetes Insipidus 2"^^xsd:string) AnnotationAssertion( "Nephrogenic Diabetes Insipidus, Type II"^^xsd:string) AnnotationAssertion( "autosomal nephrogenic diabetes insipidus-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081061"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic diabetes insipidus type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (DICER1 syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/dicer1-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31409088/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/"^^xsd:string) "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-04T09:48:19Z"^^xsd:string) AnnotationAssertion( "EFO:0009068"^^xsd:string) AnnotationAssertion( "MIM:601200"^^xsd:string) AnnotationAssertion( "ORDO:284343"^^xsd:string) AnnotationAssertion( "PPB familial tumor susceptibility syndrome"^^xsd:string) AnnotationAssertion( "Pleuro-pulmonary blastoma familial tumor susceptibility"^^xsd:string) AnnotationAssertion( "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome"^^xsd:string) AnnotationAssertion( "Pleuropulmonary blastoma familial tumor susceptibility syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081063"^^xsd:string) AnnotationAssertion(rdfs:label "DICER1 syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BN2 diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29641966/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/"^^xsd:string) "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-04T09:54:15Z"^^xsd:string) AnnotationAssertion( "NCI:C148395"^^xsd:string) AnnotationAssertion( "BN2 DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081064"^^xsd:string) AnnotationAssertion(rdfs:label "BN2 diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (EZB diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29641966/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/"^^xsd:string) "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-04T09:55:38Z"^^xsd:string) AnnotationAssertion( "NCI:C148398"^^xsd:string) AnnotationAssertion( "EZB DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081065"^^xsd:string) AnnotationAssertion(rdfs:label "EZB diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (MCD diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29641966/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/"^^xsd:string) "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-04T09:56:39Z"^^xsd:string) AnnotationAssertion( "NCI:C148394"^^xsd:string) AnnotationAssertion( "MCD DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081066"^^xsd:string) AnnotationAssertion(rdfs:label "MCD diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (N1 diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29641966/"^^xsd:string) "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-04T09:57:37Z"^^xsd:string) AnnotationAssertion( "MONDO:0850471"^^xsd:string) AnnotationAssertion( "NCI:C148396"^^xsd:string) AnnotationAssertion( "N1 DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081067"^^xsd:string) AnnotationAssertion(rdfs:label "N1 diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (ST2 diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/"^^xsd:string) "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T16:52:11Z"^^xsd:string) AnnotationAssertion( "ST2 DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081068"^^xsd:string) AnnotationAssertion(rdfs:label "ST2 diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (A53 diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32289277/"^^xsd:string) "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T16:53:13Z"^^xsd:string) AnnotationAssertion( "A53 DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081069"^^xsd:string) AnnotationAssertion(rdfs:label "A53 diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (EZB-MYC+ diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32289277/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/"^^xsd:string) "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T16:54:03Z"^^xsd:string) AnnotationAssertion( "EZB-MYC+ DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081070"^^xsd:string) AnnotationAssertion(rdfs:label "EZB-MYC+ diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (EZB-MYC- diffuse large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32289277/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/"^^xsd:string) "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T16:54:56Z"^^xsd:string) AnnotationAssertion( "EZB-MYC- DLBCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081071"^^xsd:string) AnnotationAssertion(rdfs:label "EZB-MYC- diffuse large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20018682/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24194475/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30556256/"^^xsd:string) "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:06:05Z"^^xsd:string) AnnotationAssertion( "DOID:9006917"^^xsd:string) AnnotationAssertion( "GARD:1210"^^xsd:string) AnnotationAssertion( "MESH:C565862"^^xsd:string) AnnotationAssertion( "MIM:PS213980"^^xsd:string) AnnotationAssertion( "ORDO:1394"^^xsd:string) AnnotationAssertion( "CFSMR"^^xsd:string) AnnotationAssertion( "Cerebro-facio-thoracic dysplasia"^^xsd:string) AnnotationAssertion( "Cerebrofaciothoracic Dysplasia"^^xsd:string) AnnotationAssertion( "Pascual-Castroviejo syndrome"^^xsd:string) AnnotationAssertion( "TMCO1 defect syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081072"^^xsd:string) AnnotationAssertion(rdfs:label "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Teebi hypertelorism syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26111080/"^^xsd:string) Annotation( "https://www.omim.org/entry/145420"^^xsd:string) "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T21:50:12Z"^^xsd:string) AnnotationAssertion( "DOID:9006500"^^xsd:string) AnnotationAssertion( "DOID:9007841"^^xsd:string) AnnotationAssertion( "GARD:957"^^xsd:string) AnnotationAssertion( "MESH:C536951"^^xsd:string) AnnotationAssertion( "MIM:PS145420"^^xsd:string) AnnotationAssertion( "ORDO:2745"^^xsd:string) AnnotationAssertion( "Hypertelorism, Teebi type"^^xsd:string) AnnotationAssertion( "Teebi Syndrome"^^xsd:string) AnnotationAssertion( "brachycephalofrontonasal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081073"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi hypertelorism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Teebi hypertelorism syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33811546/"^^xsd:string) "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:15:05Z"^^xsd:string) AnnotationAssertion( "DOID:9000320"^^xsd:string) AnnotationAssertion( "MIM:619736"^^xsd:string) AnnotationAssertion( "TBHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081074"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi hypertelorism syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Marsili syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29253101/"^^xsd:string) "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:17:50Z"^^xsd:string) AnnotationAssertion( "DOID:9007785"^^xsd:string) AnnotationAssertion( "MIM:147430"^^xsd:string) AnnotationAssertion( "MESH:C564128"^^xsd:string) AnnotationAssertion( "Congenital Analgesia, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "Indifference to Pain, Congenital, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "MARSIS"^^xsd:string) AnnotationAssertion( "IMPAIRED THERMAL SENSITIVITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081075"^^xsd:string) AnnotationAssertion(rdfs:label "Marsili syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blastic plasmacytoid dendritic cell neoplasm) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30350260/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31972688/"^^xsd:string) Annotation( "https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm"^^xsd:string) "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:21:46Z"^^xsd:string) AnnotationAssertion( "EFO:0010580"^^xsd:string) AnnotationAssertion( "GARD:10556"^^xsd:string) AnnotationAssertion( "NCI:C7203"^^xsd:string) AnnotationAssertion( "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor"^^xsd:string) AnnotationAssertion( "Agranular CD4+ Natural Killer Cell Leukemia"^^xsd:string) AnnotationAssertion( "Blastic NK-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Blastic Natural Killer Leukemia/Lymphoma"^^xsd:string) AnnotationAssertion( "CD4+/CD56+ Hematodermic Neoplasm"^^xsd:string) AnnotationAssertion( "natural killer (NK) cell leukemia/lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081076"^^xsd:string) AnnotationAssertion(rdfs:label "blastic plasmacytoid dendritic cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (ectodermal dysplasia and immune deficiency) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27477329/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34815879/"^^xsd:string) "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:24:16Z"^^xsd:string) AnnotationAssertion( "DOID:9003414"^^xsd:string) AnnotationAssertion( "GARD:9936"^^xsd:string) AnnotationAssertion( "MIM:PS300291"^^xsd:string) AnnotationAssertion( "Anhidrotic ectodermal dysplasia with immune deficiency"^^xsd:string) AnnotationAssertion( "Ectodermal Dysplasia and Immunodeficiency"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia, hypohidrotic, with immune deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081077"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia and immune deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia and immunodeficiency 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31965418/"^^xsd:string) "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:27:35Z"^^xsd:string) AnnotationAssertion( "DOID:9005011"^^xsd:string) AnnotationAssertion( "MESH:C564538"^^xsd:string) AnnotationAssertion( "MESH:C564542"^^xsd:string) AnnotationAssertion( "MIM:300291"^^xsd:string) AnnotationAssertion( "MESH:C536181"^^xsd:string) AnnotationAssertion( "NCI:C118844"^^xsd:string) AnnotationAssertion( "ORDO:69088"^^xsd:string) AnnotationAssertion( "EDA-ID"^^xsd:string) AnnotationAssertion( "EDAID1"^^xsd:string) AnnotationAssertion( "Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency"^^xsd:string) AnnotationAssertion( "HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency"^^xsd:string) AnnotationAssertion( "OLEDAID"^^xsd:string) AnnotationAssertion( "X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "XHM-ED"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081078"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia and immunodeficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia and immunodeficiency 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28597146/"^^xsd:string) "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:30:02Z"^^xsd:string) AnnotationAssertion( "DOID:9000561"^^xsd:string) AnnotationAssertion( "MIM:612132"^^xsd:string) AnnotationAssertion( "MESH:C567411"^^xsd:string) AnnotationAssertion( "EDAID2"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia with T-cell immunodeficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia with immunodeficiency 2"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia with immunodeficiency 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081079"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia and immunodeficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute myeloid leukemia with t(6;9) (p23;q34.1)) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32526729/"^^xsd:string) "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:31:55Z"^^xsd:string) AnnotationAssertion( "ICDO:9865/3"^^xsd:string) AnnotationAssertion( "NCI:C82423"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214"^^xsd:string) AnnotationAssertion( "DEK-NUP214"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia with t(6;9)(p23;q34)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081080"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with t(6;9) (p23;q34.1)"^^xsd:string) SubClassOf( ) # Class: (acute promyelocytic leukemia with PML-RARA) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24720386/"^^xsd:string) "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:34:45Z"^^xsd:string) AnnotationAssertion( "ICDO:9866/3"^^xsd:string) AnnotationAssertion( "acute promyelocytic leukemia, t(15;17)(q22;q11-12)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081081"^^xsd:string) AnnotationAssertion(rdfs:label "acute promyelocytic leukemia with PML-RARA"^^xsd:string) SubClassOf( ) # Class: (acute myelomonocytic leukemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31915926/"^^xsd:string) "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:35:56Z"^^xsd:string) AnnotationAssertion( "DOID:9000952"^^xsd:string) AnnotationAssertion( "EFO:0000223"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.5"^^xsd:string) AnnotationAssertion( "ICDO:9867/3"^^xsd:string) AnnotationAssertion( "MESH:D015479"^^xsd:string) AnnotationAssertion( "NCI:C7463"^^xsd:string) AnnotationAssertion( "ORDO:517"^^xsd:string) AnnotationAssertion( "Acute Myelomonocytic Leukemias"^^xsd:string) AnnotationAssertion( "Naegeli-Type Myeloid Leukemia"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081082"^^xsd:string) AnnotationAssertion(rdfs:label "acute myelomonocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31711889/"^^xsd:string) "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:40:06Z"^^xsd:string) AnnotationAssertion( "ICDO:9869/3"^^xsd:string) AnnotationAssertion( "NCI:C82426"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM"^^xsd:string) AnnotationAssertion( "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081083"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31353165/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33303720/"^^xsd:string) "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:41:34Z"^^xsd:string) AnnotationAssertion( "ICDO:9871/3"^^xsd:string) AnnotationAssertion( "NCI:C9287"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia with abnormal marrow eosinophils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081084"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with minimal differentiation) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12110349/"^^xsd:string) "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:42:39Z"^^xsd:string) AnnotationAssertion( "EFO:0003026"^^xsd:string) AnnotationAssertion( "ICDO:9872/3"^^xsd:string) AnnotationAssertion( "NCI:C8460"^^xsd:string) AnnotationAssertion( "AML-M0"^^xsd:string) AnnotationAssertion( "Acute myeloid leukemia, minimal differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081085"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with minimal differentiation"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia without maturation) AnnotationAssertion(Annotation( "https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1"^^xsd:string) "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:44:08Z"^^xsd:string) AnnotationAssertion( "EFO:0003027"^^xsd:string) AnnotationAssertion( "GARD:526"^^xsd:string) AnnotationAssertion( "ICDO:9873/3"^^xsd:string) AnnotationAssertion( "NCI:C3249"^^xsd:string) AnnotationAssertion( "ORDO:98833"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081086"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia without maturation"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with maturation) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation"^^xsd:string) "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:45:31Z"^^xsd:string) AnnotationAssertion( "EFO:0003028"^^xsd:string) AnnotationAssertion( "ICDO:9874/3"^^xsd:string) AnnotationAssertion( "NCI:C3250"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081087"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with maturation"^^xsd:string) SubClassOf( ) # Class: (chronic myelogenous leukemia, BCR-ABL1 positive) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32239758/"^^xsd:string) "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:46:45Z"^^xsd:string) AnnotationAssertion( "ICDO:9875/3"^^xsd:string) AnnotationAssertion( "Chronic myelogenous leukemia, BCR/ABL positive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081088"^^xsd:string) AnnotationAssertion(rdfs:label "chronic myelogenous leukemia, BCR-ABL1 positive"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with mutated NPM1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32609823/"^^xsd:string) "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:48:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9877/3"^^xsd:string) AnnotationAssertion( "NCI:C82431"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081089"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with mutated NPM1"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with biallelic mutation of CEBPA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/"^^xsd:string) "An acute myeloid leukemia with double mutations of the CEBPA gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:49:05Z"^^xsd:string) AnnotationAssertion( "ICDO:9878/3"^^xsd:string) AnnotationAssertion( "NCI:C129782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081090"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with biallelic mutation of CEBPA"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with mutated RUNX1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32871587/"^^xsd:string) "An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:50:12Z"^^xsd:string) AnnotationAssertion( "ICDO:9879/3"^^xsd:string) AnnotationAssertion( "NCI:C129786"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081091"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with mutated RUNX1"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with myelodysplasia-related changes) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32864703/"^^xsd:string) "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:51:33Z"^^xsd:string) AnnotationAssertion( "ICDO:9895/3"^^xsd:string) AnnotationAssertion( "NCI:C7600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081092"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with myelodysplasia-related changes"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with t(8;21); (q22; q22.1)) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31004601/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35502592/"^^xsd:string) "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:52:31Z"^^xsd:string) AnnotationAssertion( "ICDO:9896/3"^^xsd:string) AnnotationAssertion( "NCI:C9288"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, t(8;21)(q22;q22)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081093"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with t(8;21); (q22; q22.1)"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with MLL rearrangement) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34964255/"^^xsd:string) "An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:53:30Z"^^xsd:string) AnnotationAssertion( "ICDO:9897/3"^^xsd:string) AnnotationAssertion( "NCI:C174129"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with KMT2A/MLL Rearrangement"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, 11q23 abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081094"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with MLL rearrangement"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with mutated CEBPA) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/"^^xsd:string) "An acute myeloid leukemia with non-germline mutations of the CEBPA gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:54:35Z"^^xsd:string) AnnotationAssertion( "ICDO:9861/3"^^xsd:string) AnnotationAssertion( "NCI:C82433"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081095"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with mutated CEBPA"^^xsd:string) SubClassOf( ) # Class: (acute myeloid leukemia with t(1;22)(p13;q13)) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22469944/"^^xsd:string) "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:55:46Z"^^xsd:string) AnnotationAssertion( "ICDO:9911/3"^^xsd:string) AnnotationAssertion( "NCI:C82427"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081096"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia with t(1;22)(p13;q13)"^^xsd:string) SubClassOf( ) # Class: (Rafiq syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29908352/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:56:56Z"^^xsd:string) AnnotationAssertion( "DOID:9001597"^^xsd:string) AnnotationAssertion( "MIM:614202"^^xsd:string) AnnotationAssertion( "CDG2U"^^xsd:string) AnnotationAssertion( "MAN1B1-CDG"^^xsd:string) AnnotationAssertion( "MAN1B1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MRT15"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 15"^^xsd:string) AnnotationAssertion( "RAFQS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081097"^^xsd:string) AnnotationAssertion(rdfs:label "Rafiq syndrome"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22549410/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T22:59:26Z"^^xsd:string) AnnotationAssertion( "DOID:9002559"^^xsd:string) AnnotationAssertion( "MIM:613192"^^xsd:string) AnnotationAssertion( "MESH:C567714"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 13"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME"^^xsd:string) AnnotationAssertion( "MRT13"^^xsd:string) AnnotationAssertion( "TRAPPC9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081098"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 13"^^xsd:string) SubClassOf( ) # Class: (neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30296593/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T23:04:16Z"^^xsd:string) AnnotationAssertion( "DOID:9003083"^^xsd:string) AnnotationAssertion( "MIM:615286"^^xsd:string) AnnotationAssertion( "NCI:C186789"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-STRABISMUS SYNDROME"^^xsd:string) AnnotationAssertion( "MRT36"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081099"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"^^xsd:string) SubClassOf( ) # Class: (spastic paraplegia with deafness) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27271711/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3741213/"^^xsd:string) "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T16:59:17Z"^^xsd:string) AnnotationAssertion( "DOID:9005350"^^xsd:string) AnnotationAssertion( "MIM:312910"^^xsd:string) AnnotationAssertion( "GARD:5555"^^xsd:string) AnnotationAssertion( "MESH:C536692"^^xsd:string) AnnotationAssertion( "ORDO:2815"^^xsd:string) AnnotationAssertion( "Wells Jankovic Syndrome"^^xsd:string) AnnotationAssertion( "familial spastic paraparesis and deafness"^^xsd:string) AnnotationAssertion( "spastic paraparesis and deafness"^^xsd:string) AnnotationAssertion( "spastic paraparesis-deafness syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081100"^^xsd:string) AnnotationAssertion(rdfs:label "spastic paraplegia with deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonautoimmune hyperthyroidism) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8964822/"^^xsd:string) "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T17:19:09Z"^^xsd:string) AnnotationAssertion( "DOID:9004050"^^xsd:string) AnnotationAssertion( "MESH:C563786"^^xsd:string) AnnotationAssertion( "MIM:609152"^^xsd:string) AnnotationAssertion( "MONDO:0012203"^^xsd:string) AnnotationAssertion( "ORDO:424"^^xsd:string) AnnotationAssertion( "Toxic Thyroid Hyperplasia, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "nonautoimmune hyperthyroidism, autosomal dominant"^^xsd:string) AnnotationAssertion( "nonautoimmune hyperthyroidism, congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081101"^^xsd:string) AnnotationAssertion(rdfs:label "nonautoimmune hyperthyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial gestational hyperthyroidism) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9267761/"^^xsd:string) "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:18:46Z"^^xsd:string) AnnotationAssertion( "DOID:9000010"^^xsd:string) AnnotationAssertion( "MIM:603373"^^xsd:string) AnnotationAssertion( "MESH:C566384"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081102"^^xsd:string) AnnotationAssertion(rdfs:label "familial gestational hyperthyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hot water epilepsy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12558829/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/"^^xsd:string) "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:20:47Z"^^xsd:string) AnnotationAssertion( "DOID:9001217"^^xsd:string) AnnotationAssertion( "MIM:PS613339"^^xsd:string) AnnotationAssertion( "ORDO:166412"^^xsd:string) AnnotationAssertion( "BATHING EPILEPSY"^^xsd:string) AnnotationAssertion( "WATER IMMERSION EPILEPSY"^^xsd:string) AnnotationAssertion( "hot water epilepsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081104"^^xsd:string) AnnotationAssertion(rdfs:label "hot water epilepsy"^^xsd:string) SubClassOf( ) # Class: (keratosis palmoplantaris striata) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29934816/"^^xsd:string) "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:28:22Z"^^xsd:string) AnnotationAssertion( "ORDO:50942"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081105"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis palmoplantaris striata"^^xsd:string) SubClassOf( ) # Class: (hot water epilepsy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12558829/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/"^^xsd:string) "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:30:26Z"^^xsd:string) AnnotationAssertion( "DOID:9004520"^^xsd:string) AnnotationAssertion( "MIM:613339"^^xsd:string) AnnotationAssertion( "HWE1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081106"^^xsd:string) AnnotationAssertion(rdfs:label "hot water epilepsy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hot water epilepsy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/"^^xsd:string) "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:32:06Z"^^xsd:string) AnnotationAssertion( "DOID:9000000"^^xsd:string) AnnotationAssertion( "MIM:613340"^^xsd:string) AnnotationAssertion( "HWE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081107"^^xsd:string) AnnotationAssertion(rdfs:label "hot water epilepsy 2"^^xsd:string) SubClassOf( ) # Class: (keratosis palmoplantaris striata 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29934816/"^^xsd:string) "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:33:41Z"^^xsd:string) AnnotationAssertion( "DOID:9005618"^^xsd:string) AnnotationAssertion( "MIM:148700"^^xsd:string) AnnotationAssertion( "DSG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9172"^^xsd:string) AnnotationAssertion( "MESH:C536162"^^xsd:string) AnnotationAssertion( "ORDO:369999"^^xsd:string) AnnotationAssertion( "ORDO:370002"^^xsd:string) AnnotationAssertion( "KPPS1"^^xsd:string) AnnotationAssertion( "Keratoderma, Palmoplantar, Striate Form I"^^xsd:string) AnnotationAssertion( "Keratosis Palmoplantaris Striata I"^^xsd:string) AnnotationAssertion( "PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE"^^xsd:string) AnnotationAssertion( "PPKS1"^^xsd:string) AnnotationAssertion( "SPPK1"^^xsd:string) AnnotationAssertion( "Striate palmoplantar keratoderma 1"^^xsd:string) AnnotationAssertion( "keratoderma, palmoplantar striate form 1"^^xsd:string) AnnotationAssertion( "striate palmoplantar keratoderma I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081108"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis palmoplantaris striata 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratosis palmoplantaris striata 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10594734/"^^xsd:string) "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:35:52Z"^^xsd:string) AnnotationAssertion( "DOID:9006504"^^xsd:string) AnnotationAssertion( "MIM:612908"^^xsd:string) AnnotationAssertion( "MESH:C565102"^^xsd:string) AnnotationAssertion( "KPPS2"^^xsd:string) AnnotationAssertion( "Keratoderma, Palmoplantar, Striate Form II"^^xsd:string) AnnotationAssertion( "Keratosis Palmoplantaris Striata II"^^xsd:string) AnnotationAssertion( "PPKS2"^^xsd:string) AnnotationAssertion( "SPPK2"^^xsd:string) AnnotationAssertion( "Striate Palmoplantar Keratoderma II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081109"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis palmoplantaris striata 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratosis palmoplantaris striata 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11982762/"^^xsd:string) "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:36:05Z"^^xsd:string) AnnotationAssertion( "DOID:9000001"^^xsd:string) AnnotationAssertion( "MIM:607654"^^xsd:string) AnnotationAssertion( "MESH:C536163"^^xsd:string) AnnotationAssertion( "KPPS3"^^xsd:string) AnnotationAssertion( "Keratosis Palmoplantaris Striata III"^^xsd:string) AnnotationAssertion( "PPKS3"^^xsd:string) AnnotationAssertion( "SPPK3"^^xsd:string) AnnotationAssertion( "Striate palmoplantar keratoderma 3"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma, striate form 3"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma, striate form III"^^xsd:string) AnnotationAssertion( "striate palmoplantar keratoderma III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081110"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis palmoplantaris striata 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteosclerotic metaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18811698/"^^xsd:string) "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:39:52Z"^^xsd:string) AnnotationAssertion( "DOID:9000003"^^xsd:string) AnnotationAssertion( "MIM:615198"^^xsd:string) AnnotationAssertion( "ORDO:500548"^^xsd:string) AnnotationAssertion( "LRRK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OSMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081111"^^xsd:string) AnnotationAssertion(rdfs:label "osteosclerotic metaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Baraitser-Winter syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29220674/"^^xsd:string) "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:42:41Z"^^xsd:string) AnnotationAssertion( "DOID:9004677"^^xsd:string) AnnotationAssertion( "MIM:243310"^^xsd:string) AnnotationAssertion( "ACTB-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "MESH:C565462"^^xsd:string) AnnotationAssertion( "BRWS1"^^xsd:string) AnnotationAssertion( "COFLS"^^xsd:string) AnnotationAssertion( "cerebrooculofacial lymphatic syndrome"^^xsd:string) AnnotationAssertion( "iris coloboma with ptosis, hypertelorism, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081112"^^xsd:string) AnnotationAssertion(rdfs:label "Baraitser-Winter syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Baraitser-Winter syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25052316/"^^xsd:string) "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:44:37Z"^^xsd:string) AnnotationAssertion( "DOID:9000005"^^xsd:string) AnnotationAssertion( "ACTG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACTG1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614583"^^xsd:string) AnnotationAssertion( "BRWS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081113"^^xsd:string) AnnotationAssertion(rdfs:label "Baraitser-Winter syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial infantile seizures 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9339675/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:46:23Z"^^xsd:string) AnnotationAssertion( "DOID:9000650"^^xsd:string) AnnotationAssertion( "MIM:601764"^^xsd:string) AnnotationAssertion( "BFIC1"^^xsd:string) AnnotationAssertion( "BFIS1"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081114"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial infantile seizures 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18479385/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:46:34Z"^^xsd:string) AnnotationAssertion( "DOID:9000007"^^xsd:string) AnnotationAssertion( "MIM:605751"^^xsd:string) AnnotationAssertion( "MESH:C565296"^^xsd:string) AnnotationAssertion( "BFIC2"^^xsd:string) AnnotationAssertion( "BFIS2"^^xsd:string) AnnotationAssertion( "Benign Familial Infantile Convulsions 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081115"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial infantile seizures 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11094099/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:46:45Z"^^xsd:string) AnnotationAssertion( "DOID:9005759"^^xsd:string) AnnotationAssertion( "MIM:607745"^^xsd:string) AnnotationAssertion( "SCN2A-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C564274"^^xsd:string) AnnotationAssertion( "BFIC3"^^xsd:string) AnnotationAssertion( "BFIS3"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions 3"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions 3"^^xsd:string) AnnotationAssertion( "benign familial neonatal-infantile seizures"^^xsd:string) AnnotationAssertion( "benign neonatal epilepsy, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081116"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial infantile seizures 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18811698/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:46:58Z"^^xsd:string) AnnotationAssertion( "DOID:9007125"^^xsd:string) AnnotationAssertion( "MIM:612627"^^xsd:string) AnnotationAssertion( "MESH:C567231"^^xsd:string) AnnotationAssertion( "BFIC4"^^xsd:string) AnnotationAssertion( "BFIS4"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081117"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 4"^^xsd:string) SubClassOf( ) # Class: (benign familial infantile seizures 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23086396/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:47:08Z"^^xsd:string) AnnotationAssertion( "DOID:9003651"^^xsd:string) AnnotationAssertion( "MIM:617080"^^xsd:string) AnnotationAssertion( "BFIC5"^^xsd:string) AnnotationAssertion( "BFIS5"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081118"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial infantile seizures 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25847220/"^^xsd:string) "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T18:56:58Z"^^xsd:string) AnnotationAssertion( "MIM:610353"^^xsd:string) AnnotationAssertion( "BFIC6"^^xsd:string) AnnotationAssertion( "BFIS6"^^xsd:string) AnnotationAssertion( "autosomal dominant nocturnal frontal lobe epilepsy"^^xsd:string) AnnotationAssertion( "benign familial infantile convulsions 6"^^xsd:string) AnnotationAssertion( "nocturnal frontal lobe epilepsy-4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081119"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial infantile seizures 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Graves ophthalmopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Graves%27_ophthalmopathy"^^xsd:string) "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T19:07:21Z"^^xsd:string) AnnotationAssertion( "DOID:9000008"^^xsd:string) AnnotationAssertion( "MESH:D049970"^^xsd:string) AnnotationAssertion( "Congestive Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Congestive Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Dysthyroid Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Dysthyroid Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Edematous Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Edematous Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Infiltrative Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Infiltrative Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Myopathic Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Myopathic Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Thyroid Associated Ophthalmopathies"^^xsd:string) AnnotationAssertion( "Thyroid Associated Ophthalmopathy"^^xsd:string) AnnotationAssertion( "Thyroid Eye Disease"^^xsd:string) AnnotationAssertion( "Graves' Orbitopathy"^^xsd:string) AnnotationAssertion( "Thyroid-Associated Orbitopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081120"^^xsd:string) AnnotationAssertion(rdfs:label "Graves ophthalmopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy and brain white matter abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34048612/"^^xsd:string) "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-18T19:11:23Z"^^xsd:string) AnnotationAssertion( "DOID:9000013"^^xsd:string) AnnotationAssertion( "ANXA11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619733"^^xsd:string) AnnotationAssertion( "IBMWMA"^^xsd:string) AnnotationAssertion( "MSP6"^^xsd:string) AnnotationAssertion( "multisystem proteinopathy 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081121"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy and brain white matter abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Catel Manzke syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18501694/"^^xsd:string) "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T20:42:14Z"^^xsd:string) AnnotationAssertion( "DOID:9000014"^^xsd:string) AnnotationAssertion( "GARD:28"^^xsd:string) AnnotationAssertion( "MESH:C535347"^^xsd:string) AnnotationAssertion( "MIM:616145"^^xsd:string) AnnotationAssertion( "ORDO:1388"^^xsd:string) AnnotationAssertion( "CATMANS"^^xsd:string) AnnotationAssertion( "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome"^^xsd:string) AnnotationAssertion( "Index Finger Anomaly With Pierre Robin Syndrome"^^xsd:string) AnnotationAssertion( "MICROGNATHIA DIGITAL SYNDROME"^^xsd:string) AnnotationAssertion( "Palatodigital syndrome, Catel-Manzke type"^^xsd:string) AnnotationAssertion( "Pierre Robin syndrome with hyperphalangy and clinodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081122"^^xsd:string) AnnotationAssertion(rdfs:label "Catel Manzke syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked mental retardation Gustavson type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8503440/"^^xsd:string) "A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T20:46:12Z"^^xsd:string) AnnotationAssertion( "DOID:9000015"^^xsd:string) AnnotationAssertion( "MIM:309555"^^xsd:string) AnnotationAssertion( "GARD:5611"^^xsd:string) AnnotationAssertion( "MESH:C536759"^^xsd:string) AnnotationAssertion( "ORDO:3078"^^xsd:string) AnnotationAssertion( "GUST"^^xsd:string) AnnotationAssertion( "Gustavson syndrome"^^xsd:string) AnnotationAssertion( "MRXSG"^^xsd:string) AnnotationAssertion( "Mental retardation X-linked severe Gustavson type"^^xsd:string) AnnotationAssertion( "Mental retardation with optic atrophy, deafness, and seizures"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with optic atrophy, deafness, and seizures"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, X-linked syndromic, Gustavson type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081123"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked mental retardation Gustavson type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24194475/"^^xsd:string) "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T20:49:19Z"^^xsd:string) AnnotationAssertion( "MIM:213980"^^xsd:string) AnnotationAssertion( "CFSMR1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081124"^^xsd:string) AnnotationAssertion(rdfs:label "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24194475/"^^xsd:string) "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T20:49:31Z"^^xsd:string) AnnotationAssertion( "MIM:616994"^^xsd:string) AnnotationAssertion( "CFSMR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081125"^^xsd:string) AnnotationAssertion(rdfs:label "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2"^^xsd:string) SubClassOf( ) # Class: (DeSanto-Shinawi syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26264232/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK465012/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/"^^xsd:string) "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:07:21Z"^^xsd:string) AnnotationAssertion( "DOID:9006965"^^xsd:string) AnnotationAssertion( "MIM:616708"^^xsd:string) AnnotationAssertion( "ORDO:284169"^^xsd:string) AnnotationAssertion( "ORDO:466943"^^xsd:string) AnnotationAssertion( "ORDO:466950"^^xsd:string) AnnotationAssertion( "DESSH"^^xsd:string) AnnotationAssertion( "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"^^xsd:string) AnnotationAssertion( "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"^^xsd:string) AnnotationAssertion( "WAC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"^^xsd:string) AnnotationAssertion( "developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities"^^xsd:string) AnnotationAssertion( "chromosome 10p12-p11 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081126"^^xsd:string) AnnotationAssertion(rdfs:label "DeSanto-Shinawi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mandibuloacral dysplasia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29208544/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/"^^xsd:string) "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:10:08Z"^^xsd:string) AnnotationAssertion( "GARD:11893"^^xsd:string) AnnotationAssertion( "MIM:PS248370"^^xsd:string) AnnotationAssertion( "ORDO:2457"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081127"^^xsd:string) AnnotationAssertion(rdfs:label "mandibuloacral dysplasia"^^xsd:string) SubClassOf( ) # Class: (mandibuloacral dysplasia type A lipodystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19764019/"^^xsd:string) "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:14:01Z"^^xsd:string) AnnotationAssertion( "DOID:9003444"^^xsd:string) AnnotationAssertion( "MIM:248370"^^xsd:string) AnnotationAssertion( "GARD:3374"^^xsd:string) AnnotationAssertion( "MESH:C535705"^^xsd:string) AnnotationAssertion( "NCI:C123417"^^xsd:string) AnnotationAssertion( "ORDO:90153"^^xsd:string) AnnotationAssertion( "Craniomandibular Dermatodysostosis"^^xsd:string) AnnotationAssertion( "MADA"^^xsd:string) AnnotationAssertion( "Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical"^^xsd:string) AnnotationAssertion( "lipodystrophy type A associated with mandibuloacral dysplasia"^^xsd:string) AnnotationAssertion( "mandibuloacral dysplasia with type A lipodystrophy"^^xsd:string) AnnotationAssertion( "CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL"^^xsd:string) AnnotationAssertion( "MANDIBULOACRAL DYSOSTOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081128"^^xsd:string) AnnotationAssertion(rdfs:label "mandibuloacral dysplasia type A lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mandibuloacral dysplasia type B lipodystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11836320/"^^xsd:string) "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:17:32Z"^^xsd:string) AnnotationAssertion( "DOID:9004388"^^xsd:string) AnnotationAssertion( "MIM:608612"^^xsd:string) AnnotationAssertion( "ZMPSTE24-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C535706"^^xsd:string) AnnotationAssertion( "MADB"^^xsd:string) AnnotationAssertion( "Mandibuloacral Dysplasia with Type B Lipodystrophy"^^xsd:string) AnnotationAssertion( "lipodystrophy type B associated with mandibuloacral dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081129"^^xsd:string) AnnotationAssertion(rdfs:label "mandibuloacral dysplasia type B lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BH4-deficient hyperphenylalaninemia C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11388593/"^^xsd:string) "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:19:11Z"^^xsd:string) AnnotationAssertion( "DOID:9002203"^^xsd:string) AnnotationAssertion( "MIM:261630"^^xsd:string) AnnotationAssertion( "NCI:C138173"^^xsd:string) AnnotationAssertion( "DHPR DEFICIENCY"^^xsd:string) AnnotationAssertion( "DIHYDROPTERIDINE REDUCTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Dihydropteridine Reductase Deficiency Disease"^^xsd:string) AnnotationAssertion( "HPABH4C"^^xsd:string) AnnotationAssertion( "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY"^^xsd:string) AnnotationAssertion( "QDPR DEFICIENCY"^^xsd:string) AnnotationAssertion( "QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081130"^^xsd:string) AnnotationAssertion(rdfs:label "BH4-deficient hyperphenylalaninemia C"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BH4-deficient hyperphenylalaninemia D) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24204001/"^^xsd:string) "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:20:21Z"^^xsd:string) AnnotationAssertion( "DOID:9000344"^^xsd:string) AnnotationAssertion( "MIM:264070"^^xsd:string) AnnotationAssertion( "GARD:2843"^^xsd:string) AnnotationAssertion( "MESH:C538382"^^xsd:string) AnnotationAssertion( "ORDO:1578"^^xsd:string) AnnotationAssertion( "CADH DEFICIENCY"^^xsd:string) AnnotationAssertion( "HPABH4D"^^xsd:string) AnnotationAssertion( "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia with Primapterinuria"^^xsd:string) AnnotationAssertion( "PCBD DEFICIENCY"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081131"^^xsd:string) AnnotationAssertion(rdfs:label "BH4-deficient hyperphenylalaninemia D"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11388593/"^^xsd:string) "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:20:47Z"^^xsd:string) AnnotationAssertion( "GARD:7751"^^xsd:string) AnnotationAssertion( "ORDO:238583"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081132"^^xsd:string) AnnotationAssertion(rdfs:label "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia"^^xsd:string) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 7a) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34140661/"^^xsd:string) "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:26:56Z"^^xsd:string) AnnotationAssertion( "MIM:619835"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VIIA, autosomal dominant"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria, type VIIA"^^xsd:string) AnnotationAssertion( "MGCA7A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081133"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 7a"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 7b) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25597510/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25597511/"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:32:10Z"^^xsd:string) AnnotationAssertion( "MIM:616271"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria, type VIIB"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria, type VIIB, autosomal recessive"^^xsd:string) AnnotationAssertion( "MGCA7B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081134"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 7b"^^xsd:string) SubClassOf( ) # Class: (agammaglobulinemia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:35:38Z"^^xsd:string) AnnotationAssertion( "DOID:9001787"^^xsd:string) AnnotationAssertion( "MIM:613500"^^xsd:string) AnnotationAssertion( "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT"^^xsd:string) AnnotationAssertion( "AGM2"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 2, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081135"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:37:37Z"^^xsd:string) AnnotationAssertion( "DOID:9001819"^^xsd:string) AnnotationAssertion( "MIM:601495"^^xsd:string) AnnotationAssertion( "AGM1"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 1, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive agammaglobulinemia due to IGHM defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081136"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:38:59Z"^^xsd:string) AnnotationAssertion( "DOID:9009084"^^xsd:string) AnnotationAssertion( "MIM:613501"^^xsd:string) AnnotationAssertion( "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT"^^xsd:string) AnnotationAssertion( "AGM3"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 3, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081137"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:40:39Z"^^xsd:string) AnnotationAssertion( "DOID:9001357"^^xsd:string) AnnotationAssertion( "MIM:612692"^^xsd:string) AnnotationAssertion( "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT"^^xsd:string) AnnotationAssertion( "AGM6"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 6, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081138"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:42:10Z"^^xsd:string) AnnotationAssertion( "DOID:9008850"^^xsd:string) AnnotationAssertion( "MIM:615214"^^xsd:string) AnnotationAssertion( "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT"^^xsd:string) AnnotationAssertion( "AGM7"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 7, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081139"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 8A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:45:04Z"^^xsd:string) AnnotationAssertion( "MIM:616941"^^xsd:string) AnnotationAssertion( "AGM8A"^^xsd:string) AnnotationAssertion( "agammaglobulinemia 8, autosomal dominant"^^xsd:string) AnnotationAssertion( "agammaglobulinemia 8A, autosomal dominant"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, autosomal dominant, due to TCF3 defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081140"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 8A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:48:09Z"^^xsd:string) AnnotationAssertion( "DOID:9008336"^^xsd:string) AnnotationAssertion( "MIM:619693"^^xsd:string) AnnotationAssertion( "AGM9"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 9, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, autosomal recessive, due to SLC39A7 defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081141"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:49:49Z"^^xsd:string) AnnotationAssertion( "DOID:9001108"^^xsd:string) AnnotationAssertion( "MIM:619707"^^xsd:string) AnnotationAssertion( "AGM10"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia 10, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, autosomal dominant, due to SPI1 defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081142"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agammaglobulinemia 8B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32384040/"^^xsd:string) "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:51:24Z"^^xsd:string) AnnotationAssertion( "MIM:619824"^^xsd:string) AnnotationAssertion( "AGM8B"^^xsd:string) AnnotationAssertion( "agammaglobulinemia 8B, autosomal recessive"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, autosomal recessive, due to TCF3 defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081143"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia 8B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common variable immunodeficiency 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19426217/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:54:26Z"^^xsd:string) AnnotationAssertion( "DOID:9002425"^^xsd:string) AnnotationAssertion( "MIM:607594"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY DUE TO ICOS DEFECT"^^xsd:string) AnnotationAssertion( "CVID1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081144"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 1"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16007087/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:56:38Z"^^xsd:string) AnnotationAssertion( "DOID:9007351"^^xsd:string) AnnotationAssertion( "MIM:240500"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY DUE TO TACI DEFECT"^^xsd:string) AnnotationAssertion( "CVID2"^^xsd:string) AnnotationAssertion( "HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081145"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common variable immunodeficiency 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16672701/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:57:45Z"^^xsd:string) AnnotationAssertion( "DOID:9002442"^^xsd:string) AnnotationAssertion( "MIM:613493"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY DUE TO CD19 DEFECT"^^xsd:string) AnnotationAssertion( "CVID3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081146"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 3"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19666484/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:58:51Z"^^xsd:string) AnnotationAssertion( "DOID:9001886"^^xsd:string) AnnotationAssertion( "MIM:613494"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT"^^xsd:string) AnnotationAssertion( "CVID4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081147"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 4"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20038800/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T13:59:54Z"^^xsd:string) AnnotationAssertion( "DOID:9001688"^^xsd:string) AnnotationAssertion( "MIM:613495"^^xsd:string) AnnotationAssertion( "CVID5"^^xsd:string) AnnotationAssertion( "antibody deficiency due to CD20 defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081148"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 5"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20237408/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:01:01Z"^^xsd:string) AnnotationAssertion( "DOID:9002131"^^xsd:string) AnnotationAssertion( "MIM:613496"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT"^^xsd:string) AnnotationAssertion( "CVID6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081149"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 6"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22035880/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:02:03Z"^^xsd:string) AnnotationAssertion( "DOID:9008846"^^xsd:string) AnnotationAssertion( "CR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614699"^^xsd:string) AnnotationAssertion( "CVID7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081150"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 7"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25468195/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:03:20Z"^^xsd:string) AnnotationAssertion( "DOID:9003811"^^xsd:string) AnnotationAssertion( "MIM:614700"^^xsd:string) AnnotationAssertion( "CVID8"^^xsd:string) AnnotationAssertion( "Common Variable Immunodeficiency 8, with Autoimmunity"^^xsd:string) AnnotationAssertion( "common variable immunodeficiency-8 (CVID8) with autoimmunity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081151"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 8"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24140114/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:04:28Z"^^xsd:string) AnnotationAssertion( "DOID:9000689"^^xsd:string) AnnotationAssertion( "MIM:615577"^^xsd:string) AnnotationAssertion( "CVID10"^^xsd:string) AnnotationAssertion( "DAVID"^^xsd:string) AnnotationAssertion( "common variable immunodeficiency with central adrenal insufficiency"^^xsd:string) AnnotationAssertion( "deficit in anterior pituitary function and variable immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081152"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common variable immunodeficiency 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24746753/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:05:42Z"^^xsd:string) AnnotationAssertion( "DOID:9005947"^^xsd:string) AnnotationAssertion( "MIM:615767"^^xsd:string) AnnotationAssertion( "CVID11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081153"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 11"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32278790/"^^xsd:string) "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:06:36Z"^^xsd:string) AnnotationAssertion( "DOID:9008356"^^xsd:string) AnnotationAssertion( "MIM:616576"^^xsd:string) AnnotationAssertion( "CVID12"^^xsd:string) AnnotationAssertion( "NFKB1 deficiency"^^xsd:string) AnnotationAssertion( "NFKB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081154"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 12"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26981933/"^^xsd:string) "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:07:48Z"^^xsd:string) AnnotationAssertion( "DOID:9008141"^^xsd:string) AnnotationAssertion( "MIM:616873"^^xsd:string) AnnotationAssertion( "CVID13"^^xsd:string) AnnotationAssertion( "IKZF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081155"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common variable immunodeficiency 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27016798/"^^xsd:string) "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:09:01Z"^^xsd:string) AnnotationAssertion( "DOID:9009071"^^xsd:string) AnnotationAssertion( "MIM:617765"^^xsd:string) AnnotationAssertion( "CVID14"^^xsd:string) AnnotationAssertion( "IRF2BP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081156"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1LL) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23768516/"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:11:15Z"^^xsd:string) AnnotationAssertion( "DOID:9000215"^^xsd:string) AnnotationAssertion( "DOID:9008472"^^xsd:string) AnnotationAssertion( "MIM:615373"^^xsd:string) AnnotationAssertion( "CMD1LL"^^xsd:string) AnnotationAssertion( "PRDM16-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PRDM16-RELATED CONGENITAL HEART DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LVNC8"^^xsd:string) AnnotationAssertion( "Left Ventricular Noncompaction 8"^^xsd:string) AnnotationAssertion( "DOID:0081157"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1LL"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1MM) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21551322/"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:15:51Z"^^xsd:string) AnnotationAssertion( "DOID:9008209"^^xsd:string) AnnotationAssertion( "MYBPC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615396"^^xsd:string) AnnotationAssertion( "CMD1MM"^^xsd:string) AnnotationAssertion( "LVNC10"^^xsd:string) AnnotationAssertion( "Left Ventricular Noncompaction 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081158"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1MM"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29754768/"^^xsd:string) "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:21:35Z"^^xsd:string) AnnotationAssertion( "DOID:9006747"^^xsd:string) AnnotationAssertion( "MIM:618189"^^xsd:string) AnnotationAssertion( "NCI:C186785"^^xsd:string) AnnotationAssertion( "CMD2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081159"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2D) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32514796/"^^xsd:string) "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:23:17Z"^^xsd:string) AnnotationAssertion( "DOID:9003609"^^xsd:string) AnnotationAssertion( "MIM:619371"^^xsd:string) AnnotationAssertion( "CMD2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081160"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2E) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30384889/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31227780/"^^xsd:string) "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:24:29Z"^^xsd:string) AnnotationAssertion( "DOID:9006126"^^xsd:string) AnnotationAssertion( "JPH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619492"^^xsd:string) AnnotationAssertion( "CMD2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081161"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2F) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35044787/"^^xsd:string) "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:25:26Z"^^xsd:string) AnnotationAssertion( "DOID:9000042"^^xsd:string) AnnotationAssertion( "MIM:619747"^^xsd:string) AnnotationAssertion( "CMD2F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081162"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2G) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31517052/"^^xsd:string) "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:26:39Z"^^xsd:string) AnnotationAssertion( "DOID:9002218"^^xsd:string) AnnotationAssertion( "MIM:619897"^^xsd:string) AnnotationAssertion( "CMD2G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081163"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 3B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3574369/"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:27:51Z"^^xsd:string) AnnotationAssertion( "MIM:302045"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081164"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 3B"^^xsd:string) SubClassOf( ) # Class: (HMG-CoA synthase 2 deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16601895/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/"^^xsd:string) "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:34:21Z"^^xsd:string) AnnotationAssertion( "DOID:9003547"^^xsd:string) AnnotationAssertion( "MIM:605911"^^xsd:string) AnnotationAssertion( "GARD:2712"^^xsd:string) AnnotationAssertion( "MESH:C567784"^^xsd:string) AnnotationAssertion( "ORDO:35701"^^xsd:string) AnnotationAssertion( "3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency"^^xsd:string) AnnotationAssertion( "HMGCS2 Deficiency"^^xsd:string) AnnotationAssertion( "HMGCS2D"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Mitochondrial HMG-CoA Synthase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081168"^^xsd:string) AnnotationAssertion(rdfs:label "HMG-CoA synthase 2 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3057356/"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:37:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008659"^^xsd:string) AnnotationAssertion( "MIM:618513"^^xsd:string) AnnotationAssertion( "LCA19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081169"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 19"^^xsd:string) SubClassOf( ) # Class: (short stature, hearing loss, retinitis pigmentosa, and distinctive facies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26843489/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34162742/"^^xsd:string) "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:39:09Z"^^xsd:string) AnnotationAssertion( "DOID:9009102"^^xsd:string) AnnotationAssertion( "MIM:617763"^^xsd:string) AnnotationAssertion( "ORDO:494439"^^xsd:string) AnnotationAssertion( "SHRF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081175"^^xsd:string) AnnotationAssertion(rdfs:label "short stature, hearing loss, retinitis pigmentosa, and distinctive facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypotonia, ataxia, and delayed development syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28017370/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34367240/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK570204/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/"^^xsd:string) "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:40:58Z"^^xsd:string) AnnotationAssertion( "DOID:9003925"^^xsd:string) AnnotationAssertion( "MIM:617330"^^xsd:string) AnnotationAssertion( "EBF3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "HADDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081176"^^xsd:string) AnnotationAssertion(rdfs:label "hypotonia, ataxia, and delayed development syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12459588/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:42:55Z"^^xsd:string) AnnotationAssertion( "DOID:9008608"^^xsd:string) AnnotationAssertion( "MESH:C565406"^^xsd:string) AnnotationAssertion( "MIM:249500"^^xsd:string) AnnotationAssertion( "MONDO:0081177"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 1"^^xsd:string) AnnotationAssertion( "MRT1"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081177"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 1"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28143899/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:45:28Z"^^xsd:string) AnnotationAssertion( "DOID:9008771"^^xsd:string) AnnotationAssertion( "MIM:607417"^^xsd:string) AnnotationAssertion( "MESH:C564404"^^xsd:string) AnnotationAssertion( "MRT2"^^xsd:string) AnnotationAssertion( "MRT2A"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 2"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081178"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16033914/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:46:38Z"^^xsd:string) AnnotationAssertion( "DOID:9003376"^^xsd:string) AnnotationAssertion( "MIM:608443"^^xsd:string) AnnotationAssertion( "MESH:C563929"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 3"^^xsd:string) AnnotationAssertion( "MRT3"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081179"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32666583/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:48:08Z"^^xsd:string) AnnotationAssertion( "DOID:9007060"^^xsd:string) AnnotationAssertion( "MIM:611090"^^xsd:string) AnnotationAssertion( "MESH:C567019"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 12"^^xsd:string) AnnotationAssertion( "MRT12"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081180"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 12"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22541559/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:49:21Z"^^xsd:string) AnnotationAssertion( "DOID:9000480"^^xsd:string) AnnotationAssertion( "MIM:611091"^^xsd:string) AnnotationAssertion( "MESH:C567018"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 5"^^xsd:string) AnnotationAssertion( "MRT5"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081181"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 5"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25039795/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:50:24Z"^^xsd:string) AnnotationAssertion( "DOID:9001405"^^xsd:string) AnnotationAssertion( "MIM:611092"^^xsd:string) AnnotationAssertion( "MESH:C567017"^^xsd:string) AnnotationAssertion( "MRT6"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081182"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27148795/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:51:22Z"^^xsd:string) AnnotationAssertion( "DOID:9008725"^^xsd:string) AnnotationAssertion( "MIM:611093"^^xsd:string) AnnotationAssertion( "MESH:C567016"^^xsd:string) AnnotationAssertion( "MRT22"^^xsd:string) AnnotationAssertion( "MRT7"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 22"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 22"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081183"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 7"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 9/26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:52:46Z"^^xsd:string) AnnotationAssertion( "DOID:9007034"^^xsd:string) AnnotationAssertion( "MIM:611095"^^xsd:string) AnnotationAssertion( "MESH:C567014"^^xsd:string) AnnotationAssertion( "Intellectual Developmental Disorder, Autosomal Recessive 9"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26"^^xsd:string) AnnotationAssertion( "MRT26"^^xsd:string) AnnotationAssertion( "MRT9"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal recessive 26"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081184"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 9/26"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 10/20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:54:41Z"^^xsd:string) AnnotationAssertion( "DOID:9001021"^^xsd:string) AnnotationAssertion( "MIM:611096"^^xsd:string) AnnotationAssertion( "MESH:C567013"^^xsd:string) AnnotationAssertion( "Intellectual Developmental Disorder, Autosomal Recessive 10"^^xsd:string) AnnotationAssertion( "MRT10"^^xsd:string) AnnotationAssertion( "MRT20"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal recessive 20"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 10"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081185"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 10/20"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21063731/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:55:54Z"^^xsd:string) AnnotationAssertion( "DOID:9004731"^^xsd:string) AnnotationAssertion( "MIM:611097"^^xsd:string) AnnotationAssertion( "MESH:C567012"^^xsd:string) AnnotationAssertion( "MRT11"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081186"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 11"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17309643/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:56:55Z"^^xsd:string) AnnotationAssertion( "DOID:9004517"^^xsd:string) AnnotationAssertion( "MIM:611107"^^xsd:string) AnnotationAssertion( "MESH:C567008"^^xsd:string) AnnotationAssertion( "MRT4"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081187"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18446860/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:58:02Z"^^xsd:string) AnnotationAssertion( "DOID:9006531"^^xsd:string) AnnotationAssertion( "MIM:614020"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14"^^xsd:string) AnnotationAssertion( "MRT14"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081188"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 14"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20345473/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T14:59:05Z"^^xsd:string) AnnotationAssertion( "DOID:9006389"^^xsd:string) AnnotationAssertion( "MIM:614208"^^xsd:string) AnnotationAssertion( "MRT16"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081189"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 16"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25845469/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:00:36Z"^^xsd:string) AnnotationAssertion( "DOID:9003792"^^xsd:string) AnnotationAssertion( "MIM:614249"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 18"^^xsd:string) AnnotationAssertion( "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy"^^xsd:string) AnnotationAssertion( "MRT18"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081190"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 18"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21063731/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:01:33Z"^^xsd:string) AnnotationAssertion( "DOID:9000969"^^xsd:string) AnnotationAssertion( "MIM:614329"^^xsd:string) AnnotationAssertion( "MRT31"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081191"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 31"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21063731/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:02:30Z"^^xsd:string) AnnotationAssertion( "DOID:9007545"^^xsd:string) AnnotationAssertion( "MIM:614333"^^xsd:string) AnnotationAssertion( "MRT29"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081192"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 29"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 27) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23773660/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:04:08Z"^^xsd:string) AnnotationAssertion( "DOID:9004788"^^xsd:string) AnnotationAssertion( "MIM:614340"^^xsd:string) AnnotationAssertion( "MRT27"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081193"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 27"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21063731/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:05:17Z"^^xsd:string) AnnotationAssertion( "DOID:9001853"^^xsd:string) AnnotationAssertion( "MIM:614341"^^xsd:string) AnnotationAssertion( "MRT33"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081194"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 33"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:06:09Z"^^xsd:string) AnnotationAssertion( "DOID:9005012"^^xsd:string) AnnotationAssertion( "MIM:614342"^^xsd:string) AnnotationAssertion( "MRT30"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081195"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 30"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:07:08Z"^^xsd:string) AnnotationAssertion( "DOID:9003500"^^xsd:string) AnnotationAssertion( "MIM:614344"^^xsd:string) AnnotationAssertion( "MRT23"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081196"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 23"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:07:57Z"^^xsd:string) AnnotationAssertion( "DOID:9006322"^^xsd:string) AnnotationAssertion( "MIM:614345"^^xsd:string) AnnotationAssertion( "MRT24"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081197"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 24"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:09:08Z"^^xsd:string) AnnotationAssertion( "DOID:9002478"^^xsd:string) AnnotationAssertion( "MIM:614346"^^xsd:string) AnnotationAssertion( "MRT25"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081198"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 25"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21629298/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:09:58Z"^^xsd:string) AnnotationAssertion( "DOID:9006558"^^xsd:string) AnnotationAssertion( "MIM:614347"^^xsd:string) AnnotationAssertion( "MONDO:0032665"^^xsd:string) AnnotationAssertion( "MRT28"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081199"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 28"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27773430/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:26:42Z"^^xsd:string) AnnotationAssertion( "DOID:9003186"^^xsd:string) AnnotationAssertion( "MIM:614499"^^xsd:string) AnnotationAssertion( "MRT34"^^xsd:string) AnnotationAssertion( "autosomal recessive intellectual developmental disorder 34 with variant lissencephaly"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 34 with variant lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081200"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 35) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20950399/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:29:51Z"^^xsd:string) AnnotationAssertion( "DOID:9002452"^^xsd:string) AnnotationAssertion( "MIM:615162"^^xsd:string) AnnotationAssertion( "MRT35"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081201"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 35"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 37) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29302074/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:30:49Z"^^xsd:string) AnnotationAssertion( "DOID:9006993"^^xsd:string) AnnotationAssertion( "MIM:615493"^^xsd:string) AnnotationAssertion( "ANK3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-HYPOTONIA-SPASTICITY-SLEEP DISORDER SYNDROME"^^xsd:string) AnnotationAssertion( "MRT37"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081202"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 37"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 38) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23243086/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:32:15Z"^^xsd:string) AnnotationAssertion( "DOID:9007435"^^xsd:string) AnnotationAssertion( "MIM:615516"^^xsd:string) AnnotationAssertion( "MRT38"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081203"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 38"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 39) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23956177/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:33:08Z"^^xsd:string) AnnotationAssertion( "DOID:9007449"^^xsd:string) AnnotationAssertion( "MIM:615541"^^xsd:string) AnnotationAssertion( "MRT39"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 39"^^xsd:string) AnnotationAssertion( "SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081204"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 39"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 40) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34474177/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:34:01Z"^^xsd:string) AnnotationAssertion( "DOID:9006330"^^xsd:string) AnnotationAssertion( "MIM:615599"^^xsd:string) AnnotationAssertion( "MRT40"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 40"^^xsd:string) AnnotationAssertion( "NEDFCF"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081205"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 40"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 41) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25847626/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:34:53Z"^^xsd:string) AnnotationAssertion( "DOID:9007613"^^xsd:string) AnnotationAssertion( "MIM:615637"^^xsd:string) AnnotationAssertion( "MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME"^^xsd:string) AnnotationAssertion( "MRT41"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081206"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 41"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 43) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34599609/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:35:54Z"^^xsd:string) AnnotationAssertion( "DOID:9006908"^^xsd:string) AnnotationAssertion( "MIM:615817"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 43"^^xsd:string) AnnotationAssertion( "MRT43"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081207"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 43"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32439618/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:36:43Z"^^xsd:string) AnnotationAssertion( "DOID:9006200"^^xsd:string) AnnotationAssertion( "MIM:615942"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 44"^^xsd:string) AnnotationAssertion( "MRT44"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081208"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 44"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24623383/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:37:39Z"^^xsd:string) AnnotationAssertion( "DOID:9000560"^^xsd:string) AnnotationAssertion( "MIM:615979"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 45"^^xsd:string) AnnotationAssertion( "MRT45"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081209"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 45"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25125150/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:38:31Z"^^xsd:string) AnnotationAssertion( "DOID:9004558"^^xsd:string) AnnotationAssertion( "MIM:616116"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 46"^^xsd:string) AnnotationAssertion( "MRT46"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081210"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 46"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25480035/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:39:18Z"^^xsd:string) AnnotationAssertion( "DOID:9008226"^^xsd:string) AnnotationAssertion( "MIM:616193"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47"^^xsd:string) AnnotationAssertion( "MRT47"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081211"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 47"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 48) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25704603/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:40:12Z"^^xsd:string) AnnotationAssertion( "DOID:9007512"^^xsd:string) AnnotationAssertion( "MIM:616269"^^xsd:string) AnnotationAssertion( "MRT48"^^xsd:string) AnnotationAssertion( "PROGRESSIVE ESSENTIAL TREMOR-SPEECH IMPAIRMENT-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-ABNORMAL BEHAVIOR SYNDROME"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081212"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 48"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25701870/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:41:05Z"^^xsd:string) AnnotationAssertion( "DOID:9001618"^^xsd:string) AnnotationAssertion( "MIM:616460"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 50"^^xsd:string) AnnotationAssertion( "MRT50"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081213"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 50"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 51) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26206890/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:42:03Z"^^xsd:string) AnnotationAssertion( "DOID:9000167"^^xsd:string) AnnotationAssertion( "MIM:616739"^^xsd:string) AnnotationAssertion( "MRT51"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081214"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 51"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 52) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26566883/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:42:53Z"^^xsd:string) AnnotationAssertion( "DOID:9005239"^^xsd:string) AnnotationAssertion( "MIM:616887"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 52"^^xsd:string) AnnotationAssertion( "MRT52"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081215"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 52"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 54) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27106596/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:43:43Z"^^xsd:string) AnnotationAssertion( "DOID:9004737"^^xsd:string) AnnotationAssertion( "MIM:617028"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 54"^^xsd:string) AnnotationAssertion( "MRT54"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 54"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081216"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 54"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 56) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21734151/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:44:58Z"^^xsd:string) AnnotationAssertion( "DOID:9004639"^^xsd:string) AnnotationAssertion( "MIM:617125"^^xsd:string) AnnotationAssertion( "MRT56"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081217"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 56"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 74) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33161245/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:45:51Z"^^xsd:string) AnnotationAssertion( "MIM:617169"^^xsd:string) AnnotationAssertion( "MONDO:0014951"^^xsd:string) AnnotationAssertion( "MRT74"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal recessive 74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081218"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 74"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 57) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27616480/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:49:20Z"^^xsd:string) AnnotationAssertion( "DOID:9003051"^^xsd:string) AnnotationAssertion( "MIM:617188"^^xsd:string) AnnotationAssertion( "MRT57"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081219"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 57"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 58) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33976153/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:50:20Z"^^xsd:string) AnnotationAssertion( "DOID:9000513"^^xsd:string) AnnotationAssertion( "MIM:617270"^^xsd:string) AnnotationAssertion( "ELP2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MRT58"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081220"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 58"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 59) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26416544/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:51:51Z"^^xsd:string) AnnotationAssertion( "DOID:9007035"^^xsd:string) AnnotationAssertion( "MIM:617323"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 59"^^xsd:string) AnnotationAssertion( "MRT59"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081221"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 59"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 60) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28257693/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:52:40Z"^^xsd:string) AnnotationAssertion( "DOID:9005093"^^xsd:string) AnnotationAssertion( "MIM:617432"^^xsd:string) AnnotationAssertion( "MRT60"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 60"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081222"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 60"^^xsd:string) SubClassOf( ) # Class: (glycosylphosphatidylinositol biosynthesis defect 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27694521/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:54:11Z"^^xsd:string) AnnotationAssertion( "DOID:9009068"^^xsd:string) AnnotationAssertion( "MIM:617816"^^xsd:string) AnnotationAssertion( "Intellectual developmental disorder, autosomal recessive 62"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62"^^xsd:string) AnnotationAssertion( "MRT62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081223"^^xsd:string) AnnotationAssertion(rdfs:label "glycosylphosphatidylinositol biosynthesis defect 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 63) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29784083/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:56:08Z"^^xsd:string) AnnotationAssertion( "DOID:9009215"^^xsd:string) AnnotationAssertion( "MIM:618095"^^xsd:string) AnnotationAssertion( "MRT63"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081224"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 63"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 64) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28837161/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:57:14Z"^^xsd:string) AnnotationAssertion( "DOID:9009216"^^xsd:string) AnnotationAssertion( "MIM:618103"^^xsd:string) AnnotationAssertion( "MRT64"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081225"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 64"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 65) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29276005/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:58:11Z"^^xsd:string) AnnotationAssertion( "DOID:9004428"^^xsd:string) AnnotationAssertion( "MIM:618109"^^xsd:string) AnnotationAssertion( "MRT65"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081226"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 65"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 66) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27311568/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T15:59:06Z"^^xsd:string) AnnotationAssertion( "DOID:9009242"^^xsd:string) AnnotationAssertion( "MIM:618221"^^xsd:string) AnnotationAssertion( "MRT66"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081227"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 66"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 67) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30409806/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:00:11Z"^^xsd:string) AnnotationAssertion( "DOID:9002440"^^xsd:string) AnnotationAssertion( "MIM:618295"^^xsd:string) AnnotationAssertion( "MRT67"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081228"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 67"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 68) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30289604/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:01:04Z"^^xsd:string) AnnotationAssertion( "DOID:9006641"^^xsd:string) AnnotationAssertion( "MIM:618302"^^xsd:string) AnnotationAssertion( "MRT68"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081229"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 68"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 69) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29893856/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:02:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005345"^^xsd:string) AnnotationAssertion( "MIM:618383"^^xsd:string) AnnotationAssertion( "MRT69"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081230"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 69"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 70) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28640246/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:03:15Z"^^xsd:string) AnnotationAssertion( "DOID:9009079"^^xsd:string) AnnotationAssertion( "MIM:618402"^^xsd:string) AnnotationAssertion( "MRT70"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081231"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 70"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 71) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31079898/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:04:15Z"^^xsd:string) AnnotationAssertion( "DOID:9000328"^^xsd:string) AnnotationAssertion( "EFO:0010280"^^xsd:string) AnnotationAssertion( "MIM:618504"^^xsd:string) AnnotationAssertion( "MRT71"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081232"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 71"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 73) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34230638/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:05:08Z"^^xsd:string) AnnotationAssertion( "DOID:9006469"^^xsd:string) AnnotationAssertion( "MIM:619717"^^xsd:string) AnnotationAssertion( "MRT73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081233"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 73"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 75) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34163010/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:07:37Z"^^xsd:string) AnnotationAssertion( "DOID:9001728"^^xsd:string) AnnotationAssertion( "MIM:619827"^^xsd:string) AnnotationAssertion( "Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly"^^xsd:string) AnnotationAssertion( "MRT75"^^xsd:string) AnnotationAssertion( "PIDD1 RELATED DISORDER"^^xsd:string) AnnotationAssertion( "PIDD1-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081234"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 75"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 76) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35675825/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:08:47Z"^^xsd:string) AnnotationAssertion( "DOID:9000317"^^xsd:string) AnnotationAssertion( "MIM:619931"^^xsd:string) AnnotationAssertion( "MRT76"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081235"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 76"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive intellectual developmental disorder 77) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34196201/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:09:36Z"^^xsd:string) AnnotationAssertion( "DOID:9008047"^^xsd:string) AnnotationAssertion( "MIM:619988"^^xsd:string) AnnotationAssertion( "MRT77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081236"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive intellectual developmental disorder 77"^^xsd:string) SubClassOf( ) # Class: (acromesomelic dysplasia-3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26105076/"^^xsd:string) "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:11:13Z"^^xsd:string) AnnotationAssertion( "DOID:9005796"^^xsd:string) AnnotationAssertion( "MIM:609441"^^xsd:string) AnnotationAssertion( "MESH:C537913"^^xsd:string) AnnotationAssertion( "AMD3"^^xsd:string) AnnotationAssertion( "AMDD"^^xsd:string) AnnotationAssertion( "acromesomelic chondrodysplasia with or without genital anomalies"^^xsd:string) AnnotationAssertion( "acromesomelic chondrodysplasia, with genital anomalies"^^xsd:string) AnnotationAssertion( "acromesomelic dysplasia, Demirhan type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081237"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia-3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acromesomelic dysplasia-4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33106379/"^^xsd:string) "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:12:32Z"^^xsd:string) AnnotationAssertion( "DOID:9000536"^^xsd:string) AnnotationAssertion( "MIM:619636"^^xsd:string) AnnotationAssertion( "AMD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081238"^^xsd:string) AnnotationAssertion(rdfs:label "acromesomelic dysplasia-4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (injection anthrax) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29533547/"^^xsd:string) Annotation( "https://www.cdc.gov/anthrax/basics/types/index.html"^^xsd:string) "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T16:13:46Z"^^xsd:string) AnnotationAssertion( "injectional anthrax"^^xsd:string) AnnotationAssertion( "injectional anthrax syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081239"^^xsd:string) AnnotationAssertion(rdfs:label "injection anthrax"^^xsd:string) SubClassOf( ) # Class: (peroxisome biogenesis disorder 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28523433/"^^xsd:string) "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T10:20:32Z"^^xsd:string) AnnotationAssertion( "MIM:601539"^^xsd:string) AnnotationAssertion( "PBD1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081240"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 3B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T12:45:13Z"^^xsd:string) AnnotationAssertion( "DOID:9009157"^^xsd:string) AnnotationAssertion( "MIM:266510"^^xsd:string) AnnotationAssertion( "PDB3B"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER TYPE 3B"^^xsd:string) AnnotationAssertion( "Peroxisomal Biogenesis Disorder 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081241"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 3B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune interstitial lung, joint, and kidney disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25894502/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/copa-syndrome/"^^xsd:string) "A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T12:50:11Z"^^xsd:string) AnnotationAssertion( "DOID:9007760"^^xsd:string) AnnotationAssertion( "MIM:616414"^^xsd:string) AnnotationAssertion( "ORDO:444092"^^xsd:string) AnnotationAssertion( "AILJK"^^xsd:string) AnnotationAssertion( "Autoimmune interstitial lung disease-arthritis syndrome"^^xsd:string) AnnotationAssertion( "COPA syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081242"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune interstitial lung, joint, and kidney disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctate type 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28523433/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/"^^xsd:string) "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T12:55:04Z"^^xsd:string) AnnotationAssertion( "DOID:9001854"^^xsd:string) AnnotationAssertion( "FAR1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616154"^^xsd:string) AnnotationAssertion( "ORDO:438178"^^xsd:string) AnnotationAssertion( "PFCRD"^^xsd:string) AnnotationAssertion( "Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081243"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctate type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary blastoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35291028/"^^xsd:string) "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T13:02:05Z"^^xsd:string) AnnotationAssertion( "ICDO:8273/3"^^xsd:string) AnnotationAssertion( "NCI:C155304"^^xsd:string) AnnotationAssertion( "pituitary gland blastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081244"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary blastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cauda equina neuroendocrine tumor) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us"^^xsd:string) "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T13:08:49Z"^^xsd:string) AnnotationAssertion( "ICDO:8693/3"^^xsd:string) AnnotationAssertion( "NCI:C5324"^^xsd:string) AnnotationAssertion( "Cauda equina neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "Spinal neuroendocrine tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081245"^^xsd:string) AnnotationAssertion(rdfs:label "cauda equina neuroendocrine tumor"^^xsd:string) SubClassOf( ) # Class: (teratoma with somatic-type malignancy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/"^^xsd:string) "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T17:42:05Z"^^xsd:string) AnnotationAssertion( "ICDO:9084/3"^^xsd:string) AnnotationAssertion( "NCI:C4289"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081246"^^xsd:string) AnnotationAssertion(rdfs:label "teratoma with somatic-type malignancy"^^xsd:string) SubClassOf( ) # Class: (dedifferentiated chondrosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34734747/"^^xsd:string) "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T17:45:23Z"^^xsd:string) AnnotationAssertion( "EFO:0000394"^^xsd:string) AnnotationAssertion( "ICDO:9243/3"^^xsd:string) AnnotationAssertion( "NCI:C6476"^^xsd:string) AnnotationAssertion( "DDC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081247"^^xsd:string) AnnotationAssertion(rdfs:label "dedifferentiated chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (pineocytoma) AnnotationAssertion(Annotation( "https://rarediseases.org/gard-rare-disease/pineocytoma/"^^xsd:string) "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T20:24:21Z"^^xsd:string) AnnotationAssertion( "ICDO:9361/1"^^xsd:string) AnnotationAssertion( "NCI:C6966"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081248"^^xsd:string) AnnotationAssertion(rdfs:label "pineocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (EWSR1-negative small round cell tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28346326/"^^xsd:string) "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:01:23Z"^^xsd:string) AnnotationAssertion( "NCI:C165671"^^xsd:string) AnnotationAssertion( "EWSR1-Negative Small Blue Round Cell Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081249"^^xsd:string) AnnotationAssertion(rdfs:label "EWSR1-negative small round cell tumor"^^xsd:string) SubClassOf( ) # Class: (CIC-rearranged sarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31288305/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32796172/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33680459/"^^xsd:string) "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:08:09Z"^^xsd:string) AnnotationAssertion( "DOID:9007982"^^xsd:string) AnnotationAssertion( "ICDO:9367/3"^^xsd:string) AnnotationAssertion( "NCI:C120224"^^xsd:string) AnnotationAssertion( "CIC-DUX SARCOMA"^^xsd:string) AnnotationAssertion( "Capicua transcriptional repressor (CIC)-rearranged sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081250"^^xsd:string) AnnotationAssertion(rdfs:label "CIC-rearranged sarcoma"^^xsd:string) SubClassOf( ) # Class: (papillary tumor of the pineal region) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29691144/"^^xsd:string) "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:11:16Z"^^xsd:string) AnnotationAssertion( "DOID:9001675"^^xsd:string) AnnotationAssertion( "EFO:1000451"^^xsd:string) AnnotationAssertion( "ICDO:9395/3"^^xsd:string) AnnotationAssertion( "NCI:C92624"^^xsd:string) AnnotationAssertion( "PTPR"^^xsd:string) AnnotationAssertion( "Papillary tumour of the pineal region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081251"^^xsd:string) AnnotationAssertion(rdfs:label "papillary tumor of the pineal region"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (supratentorial ependymoma, ZFTA fusion-positive) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:13:51Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081252"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial ependymoma, ZFTA fusion-positive"^^xsd:string) SubClassOf( ) # Class: (supratentorial ependymoma, YAP1 fusion-positive) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:15:35Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081253"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial ependymoma, YAP1 fusion-positive"^^xsd:string) SubClassOf( ) # Class: (posterior fossa group A ependymoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29909548/"^^xsd:string) "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:18:42Z"^^xsd:string) AnnotationAssertion( "NCI:C186450"^^xsd:string) AnnotationAssertion( "Posterior fossa group A (PFA) ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081254"^^xsd:string) AnnotationAssertion(rdfs:label "posterior fossa group A ependymoma"^^xsd:string) SubClassOf( ) # Class: (posterior fossa group B ependymoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33902636/"^^xsd:string) "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:19:59Z"^^xsd:string) AnnotationAssertion( "NCI:C186451"^^xsd:string) AnnotationAssertion( "Posterior fossa group B (PFB) ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081255"^^xsd:string) AnnotationAssertion(rdfs:label "posterior fossa group B ependymoma"^^xsd:string) SubClassOf( ) # Class: (astrocytoma, IDH-mutant, grade 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35902341/"^^xsd:string) "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:21:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9400/3"^^xsd:string) AnnotationAssertion( "NCI:C129271"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081256"^^xsd:string) AnnotationAssertion(rdfs:label "astrocytoma, IDH-mutant, grade 2"^^xsd:string) SubClassOf( ) # Class: (astrocytoma, IDH-mutant, grade 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34377594/"^^xsd:string) "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:22:26Z"^^xsd:string) AnnotationAssertion( "ICDO:9401/3"^^xsd:string) AnnotationAssertion( "NCI:C129290"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081257"^^xsd:string) AnnotationAssertion(rdfs:label "astrocytoma, IDH-mutant, grade 3"^^xsd:string) SubClassOf( ) # Class: (desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31223403/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35015431/"^^xsd:string) "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:24:40Z"^^xsd:string) AnnotationAssertion( "ICDO:9412/1"^^xsd:string) AnnotationAssertion( "NCI:C4738"^^xsd:string) AnnotationAssertion( "NCI:C9476"^^xsd:string) AnnotationAssertion( "desmoplastic infantile astrocytoma"^^xsd:string) AnnotationAssertion( "desmoplastic infantile ganglioglioma"^^xsd:string) AnnotationAssertion( "desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081259"^^xsd:string) AnnotationAssertion(rdfs:label "desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma"^^xsd:string) SubClassOf( ) # Class: (diffuse low-grade glioma, MAPK pathway-altered) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:26:45Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081260"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse low-grade glioma, MAPK pathway-altered"^^xsd:string) SubClassOf( ) # Class: (angiocentric glioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34863434/"^^xsd:string) "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-30T21:33:07Z"^^xsd:string) AnnotationAssertion( "ICDO:9431/1"^^xsd:string) AnnotationAssertion( "NCI:C92552"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081261"^^xsd:string) AnnotationAssertion(rdfs:label "angiocentric glioma"^^xsd:string) SubClassOf( ) # Class: (intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34314705/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-31T14:50:57Z"^^xsd:string) AnnotationAssertion( "DOID:9004184"^^xsd:string) AnnotationAssertion( "MIM:619556"^^xsd:string) AnnotationAssertion( "IDDHISD"^^xsd:string) AnnotationAssertion( "TNPO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081262"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35861185/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-31T14:54:13Z"^^xsd:string) AnnotationAssertion( "DOID:9002308"^^xsd:string) AnnotationAssertion( "MIM:617913"^^xsd:string) AnnotationAssertion( "NEDMCR"^^xsd:string) AnnotationAssertion( "NEDMCR syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081263"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33474647/"^^xsd:string) "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-31T14:57:38Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081264"^^xsd:string) AnnotationAssertion(rdfs:label "developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intellectual developmental disorder with abnormal behavior, microcephaly, and short stature) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31583274/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35144859/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-31T15:01:55Z"^^xsd:string) AnnotationAssertion( "DOID:9009109"^^xsd:string) AnnotationAssertion( "MIM:618342"^^xsd:string) AnnotationAssertion( "IDDABS"^^xsd:string) AnnotationAssertion( "IDDBAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081265"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31630790/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36078134/"^^xsd:string) "A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-31T15:05:19Z"^^xsd:string) AnnotationAssertion( "DOID:9007846"^^xsd:string) AnnotationAssertion( "MIM:618737"^^xsd:string) AnnotationAssertion( "CDCBM15"^^xsd:string) AnnotationAssertion( "PAMDDFS"^^xsd:string) AnnotationAssertion( "complex cortical dysplasia with other brain malformations 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081266"^^xsd:string) AnnotationAssertion(rdfs:label "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (graft-versus-host disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31466596/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK538235/"^^xsd:string) "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:06:21Z"^^xsd:string) AnnotationAssertion( "DOID:9006073"^^xsd:string) AnnotationAssertion( "MIM:614395"^^xsd:string) AnnotationAssertion( "ICD11:4B24"^^xsd:string) AnnotationAssertion( "MESH:D006086"^^xsd:string) AnnotationAssertion( "ORDO:39812"^^xsd:string) AnnotationAssertion( "GVHD"^^xsd:string) AnnotationAssertion( "GVHDS"^^xsd:string) AnnotationAssertion( "Graft vs Host Disease"^^xsd:string) AnnotationAssertion( "Graft-Versus-Host Diseases"^^xsd:string) AnnotationAssertion( "Graft-vs-Host Diseases"^^xsd:string) AnnotationAssertion( "Homologous Wasting Disease"^^xsd:string) AnnotationAssertion( "Runt Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "graft-versus-host disease, resistance to"^^xsd:string) AnnotationAssertion( "graft-versus-host disease, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0081267"^^xsd:string) AnnotationAssertion(rdfs:label "graft-versus-host disease"^^xsd:string) SubClassOf( ) # Class: (pulmonary venoocclusive disease 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18626305/"^^xsd:string) "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:10:01Z"^^xsd:string) AnnotationAssertion( "DOID:9007133"^^xsd:string) AnnotationAssertion( "BMPR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BMPR2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:265450"^^xsd:string) AnnotationAssertion( "PVOD1"^^xsd:string) AnnotationAssertion( "pulmonary veno-occlusive disease 1"^^xsd:string) AnnotationAssertion( "pulmonary venoocclusive disease 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081268"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary venoocclusive disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary venoocclusive disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24292273/"^^xsd:string) "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:11:58Z"^^xsd:string) AnnotationAssertion( "DOID:9007143"^^xsd:string) AnnotationAssertion( "MIM:234810"^^xsd:string) AnnotationAssertion( "MESH:C535861"^^xsd:string) AnnotationAssertion( "EIF2AK4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Familial Pulmonary Capillary Hemangiomatosis"^^xsd:string) AnnotationAssertion( "PVOD2"^^xsd:string) AnnotationAssertion( "Pulmonary Venoocclusive Disease 2, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081269"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary venoocclusive disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Smith-McCort dysplasia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9295067/"^^xsd:string) "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:14:34Z"^^xsd:string) AnnotationAssertion( "DOID:9001494"^^xsd:string) AnnotationAssertion( "DYM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:607326"^^xsd:string) AnnotationAssertion( "SMC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081270"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-McCort dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Smith-McCort dysplasia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23042644/"^^xsd:string) "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:15:57Z"^^xsd:string) AnnotationAssertion( "DOID:9003257"^^xsd:string) AnnotationAssertion( "MIM:615222"^^xsd:string) AnnotationAssertion( "SMC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081271"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-McCort dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Sandestig-Stefanova syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32021605/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36158057/"^^xsd:string) "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:18:57Z"^^xsd:string) AnnotationAssertion( "DOID:9008661"^^xsd:string) AnnotationAssertion( "NUP188-related condition"^^xsd:string) AnnotationAssertion( "MIM:618804"^^xsd:string) AnnotationAssertion( "MONDO:0032926"^^xsd:string) AnnotationAssertion( "SANDSTEF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081272"^^xsd:string) AnnotationAssertion(rdfs:label "Sandestig-Stefanova syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Siddiqi syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28067622/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30214770/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35754111/"^^xsd:string) "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:21:49Z"^^xsd:string) AnnotationAssertion( "DOID:9002405"^^xsd:string) AnnotationAssertion( "EFO:0010633"^^xsd:string) AnnotationAssertion( "MIM:618635"^^xsd:string) AnnotationAssertion( "MONDO:0032842"^^xsd:string) AnnotationAssertion( "SIDDIS"^^xsd:string) AnnotationAssertion( "deafness, dystonia, developmental delay, and poor growth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081273"^^xsd:string) AnnotationAssertion(rdfs:label "Siddiqi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peroxisome biogenesis disorder 14B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22581968/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31724321/"^^xsd:string) "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:24:10Z"^^xsd:string) AnnotationAssertion( "DOID:9002681"^^xsd:string) AnnotationAssertion( "MIM:614920"^^xsd:string) AnnotationAssertion( "PEX11B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PEX14B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081274"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisome biogenesis disorder 14B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with eye movement abnormalities and ataxia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36206744/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:26:13Z"^^xsd:string) AnnotationAssertion( "DOID:9000753"^^xsd:string) AnnotationAssertion( "MIM:620094"^^xsd:string) AnnotationAssertion( "NEDEMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081275"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with eye movement abnormalities and ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebellar atrophy, visual impairment, and psychomotor retardation) AnnotationAssertion(Annotation( "https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26942288/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29271071/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35234901/"^^xsd:string) "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-30T19:29:57Z"^^xsd:string) AnnotationAssertion( "DOID:9001428"^^xsd:string) AnnotationAssertion( "MIM:616875"^^xsd:string) AnnotationAssertion( "ORDO:480898"^^xsd:string) AnnotationAssertion( "CAVIPMR"^^xsd:string) AnnotationAssertion( "EMC1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081276"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar atrophy, visual impairment, and psychomotor retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34858308/"^^xsd:string) "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:46:40Z"^^xsd:string) AnnotationAssertion( "NCI:C185467"^^xsd:string) AnnotationAssertion( "diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081277"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype"^^xsd:string) SubClassOf( ) # Class: (infant-type hemispheric glioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35404193/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36315913/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36316040/"^^xsd:string) "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:47:48Z"^^xsd:string) AnnotationAssertion( "NCI:C185471"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081278"^^xsd:string) AnnotationAssertion(rdfs:label "infant-type hemispheric glioma"^^xsd:string) SubClassOf( ) # Class: (diffuse astrocytoma, MYB- or MYBL1-altered) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35015431/"^^xsd:string) "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:50:01Z"^^xsd:string) AnnotationAssertion( "ICDO:9421/1"^^xsd:string) AnnotationAssertion( "NCI:C185196"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081279"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse astrocytoma, MYB- or MYBL1-altered"^^xsd:string) SubClassOf( ) # Class: (pituicytoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pituicytoma"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36057248/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36180358/"^^xsd:string) "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:51:15Z"^^xsd:string) AnnotationAssertion( "EFO:1000477"^^xsd:string) AnnotationAssertion( "ICDO:9432/1"^^xsd:string) AnnotationAssertion( "NCI:C94524"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081280"^^xsd:string) AnnotationAssertion(rdfs:label "pituicytoma"^^xsd:string) SubClassOf( ) # Class: (oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html"^^xsd:string) "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:52:51Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081281"^^xsd:string) AnnotationAssertion(rdfs:label "oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2"^^xsd:string) SubClassOf( ) # Class: (oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3) AnnotationAssertion(Annotation( "https://www.abta.org/tumor_types/oligodendroglioma/"^^xsd:string) Annotation( "https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html"^^xsd:string) "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:54:39Z"^^xsd:string) AnnotationAssertion( "ICDO:9451/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081282"^^xsd:string) AnnotationAssertion(rdfs:label "oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3"^^xsd:string) SubClassOf( ) # Class: (papillary glioneuronal tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35854961/"^^xsd:string) "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:56:29Z"^^xsd:string) AnnotationAssertion( "NCI:C92554"^^xsd:string) AnnotationAssertion( "Papillary glioneuronal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081283"^^xsd:string) AnnotationAssertion(rdfs:label "papillary glioneuronal tumor"^^xsd:string) SubClassOf( ) # Class: (rosette-forming glioneuronal tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36230557/"^^xsd:string) "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T11:59:07Z"^^xsd:string) AnnotationAssertion( "ICDO:9509/1"^^xsd:string) AnnotationAssertion( "NCI:C129431"^^xsd:string) AnnotationAssertion( "RGNT"^^xsd:string) AnnotationAssertion( "Rosette-forming glioneuronal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081284"^^xsd:string) AnnotationAssertion(rdfs:label "rosette-forming glioneuronal tumor"^^xsd:string) SubClassOf( ) # Class: (myxoid glioneuronal tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34297434/"^^xsd:string) "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T12:00:57Z"^^xsd:string) AnnotationAssertion( "NCI:C179229"^^xsd:string) AnnotationAssertion( "Myxoid glioneuronal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081285"^^xsd:string) AnnotationAssertion(rdfs:label "myxoid glioneuronal tumor"^^xsd:string) SubClassOf( ) # Class: (embryonal tumor with multilayered rosettes) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36451902/"^^xsd:string) "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-15T12:03:34Z"^^xsd:string) AnnotationAssertion( "ICDO:9478/3"^^xsd:string) AnnotationAssertion( "NCI:C186534"^^xsd:string) AnnotationAssertion( "Embryonal tumour with multilayered rosettes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081286"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal tumor with multilayered rosettes"^^xsd:string) SubClassOf( ) # Class: (white sponge nevus 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7493030/"^^xsd:string) "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T18:53:24Z"^^xsd:string) AnnotationAssertion( "MIM:193900"^^xsd:string) AnnotationAssertion( "WSN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081287"^^xsd:string) AnnotationAssertion(rdfs:label "white sponge nevus 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (white sponge nevus 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14600690/"^^xsd:string) "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T18:58:12Z"^^xsd:string) AnnotationAssertion( "MIM:615785"^^xsd:string) AnnotationAssertion( "WSN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081288"^^xsd:string) AnnotationAssertion(rdfs:label "white sponge nevus 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Antley-Bixler syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/antley-bixler-syndrome/"^^xsd:string) "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T18:11:33Z"^^xsd:string) AnnotationAssertion( "GARD:5826"^^xsd:string) AnnotationAssertion( "MESH:D054882"^^xsd:string) AnnotationAssertion( "Antley and Bixler's syndrome"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome phenotype"^^xsd:string) AnnotationAssertion( "POR deficiency"^^xsd:string) AnnotationAssertion( "combined partial deficiency of 17-hydroxylase and 21-hydroxylase"^^xsd:string) AnnotationAssertion( "multisynostotic osteodysgenesis"^^xsd:string) AnnotationAssertion( "multisynostotic osteodysgenesis with fractures"^^xsd:string) AnnotationAssertion( "multisynostotic osteodysgenesis with long bone fractures"^^xsd:string) AnnotationAssertion( "trapezoidocephaly synostosis syndrome"^^xsd:string) AnnotationAssertion( "trapezoidocephaly-synostosis syndromes"^^xsd:string) AnnotationAssertion( "Antley-Bixler syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081289"^^xsd:string) AnnotationAssertion(rdfs:label "Antley-Bixler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Antley-Bixler syndrome without disordered steroidogenesis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15793702/"^^xsd:string) "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:02:56Z"^^xsd:string) AnnotationAssertion( "DOID:9007609"^^xsd:string) AnnotationAssertion( "MIM:207410"^^xsd:string) AnnotationAssertion( "ABS2"^^xsd:string) AnnotationAssertion( "ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081290"^^xsd:string) AnnotationAssertion(rdfs:label "Antley-Bixler syndrome without disordered steroidogenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic traumatic encephalopathy) AnnotationAssertion(Annotation( "https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33621530/"^^xsd:string) Annotation( "https://www.nature.com/articles/s41586-019-1026-5"^^xsd:string) "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:05:06Z"^^xsd:string) AnnotationAssertion( "DOID:9005200"^^xsd:string) AnnotationAssertion( "MESH:D000070627"^^xsd:string) AnnotationAssertion( "Chronic Post Concussive Encephalopathy"^^xsd:string) AnnotationAssertion( "Chronic Post Traumatic Encephalopathy"^^xsd:string) AnnotationAssertion( "Chronic Post-Concussive Encephalopathies"^^xsd:string) AnnotationAssertion( "Chronic Post-Traumatic Encephalopathies"^^xsd:string) AnnotationAssertion( "Post Concussive Encephalopathy"^^xsd:string) AnnotationAssertion( "Post Traumatic Encephalopathy"^^xsd:string) AnnotationAssertion( "Post-Concussive Encephalopathies"^^xsd:string) AnnotationAssertion( "Post-Traumatic Encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081291"^^xsd:string) AnnotationAssertion(rdfs:label "chronic traumatic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (traumatic brain injury) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459300/"^^xsd:string) "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:08:24Z"^^xsd:string) AnnotationAssertion( "DOID:9003061"^^xsd:string) AnnotationAssertion( "MESH:D000070642"^^xsd:string) AnnotationAssertion( "Brain Trauma"^^xsd:string) AnnotationAssertion( "TBI (Traumatic Brain Injuries)"^^xsd:string) AnnotationAssertion( "TBI (Traumatic Brain Injury)"^^xsd:string) AnnotationAssertion( "TBIs (Traumatic Brain Injuries)"^^xsd:string) AnnotationAssertion( "Traumatic Brain Injuries"^^xsd:string) AnnotationAssertion( "Traumatic Encephalopathies"^^xsd:string) AnnotationAssertion( "brain traumas"^^xsd:string) AnnotationAssertion( "traumatic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081292"^^xsd:string) AnnotationAssertion(rdfs:label "traumatic brain injury"^^xsd:string) SubClassOf( ) # Class: (salivary gland mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html"^^xsd:string) "A mucoepidermoid carcinoma located_in the salivary gland. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:11:40Z"^^xsd:string) AnnotationAssertion( "EFO:1000346"^^xsd:string) AnnotationAssertion( "NCI:C5908"^^xsd:string) AnnotationAssertion( "Major Salivary Gland Mucoepidermoid Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081293"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal intranuclear inclusion disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27797808/"^^xsd:string) "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:26:48Z"^^xsd:string) AnnotationAssertion( "DOID:9002831"^^xsd:string) AnnotationAssertion( "MIM:603472"^^xsd:string) AnnotationAssertion( "MESH:C537395"^^xsd:string) AnnotationAssertion( "NCI:C122655"^^xsd:string) AnnotationAssertion( "ORDO:2289"^^xsd:string) AnnotationAssertion( "NIID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081294"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal intranuclear inclusion disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (essential tremor 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31819945/"^^xsd:string) "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:29:38Z"^^xsd:string) AnnotationAssertion( "DOID:9004326"^^xsd:string) AnnotationAssertion( "MIM:618866"^^xsd:string) AnnotationAssertion( "ETM6"^^xsd:string) AnnotationAssertion( "hereditary essential tremor 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081295"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculopharyngodistal myopathy) AnnotationAssertion(Annotation( "https://jnnp.bmj.com/content/75/10/1499"^^xsd:string) "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:31:51Z"^^xsd:string) AnnotationAssertion( "DOID:9008215"^^xsd:string) AnnotationAssertion( "GARD:12592"^^xsd:string) AnnotationAssertion( "MESH:C563508"^^xsd:string) AnnotationAssertion( "MIM:PS164310"^^xsd:string) AnnotationAssertion( "ORDO:98897"^^xsd:string) AnnotationAssertion( "FOLP-DR"^^xsd:string) AnnotationAssertion( "OPDM"^^xsd:string) AnnotationAssertion( "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement"^^xsd:string) AnnotationAssertion( "oculopharyngodistal myopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081296"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngodistal myopathy"^^xsd:string) SubClassOf( ) # Class: (oculopharyngodistal myopathy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31332380/"^^xsd:string) "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:34:53Z"^^xsd:string) AnnotationAssertion( "DOID:9002808"^^xsd:string) AnnotationAssertion( "MIM:164310"^^xsd:string) AnnotationAssertion( "OPDM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081297"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngodistal myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculopharyngodistal myopathy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32413282/"^^xsd:string) "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:36:22Z"^^xsd:string) AnnotationAssertion( "DOID:9000168"^^xsd:string) AnnotationAssertion( "MIM:618940"^^xsd:string) AnnotationAssertion( "NCI:C190873"^^xsd:string) AnnotationAssertion( "OPDM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081298"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngodistal myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculopharyngodistal myopathy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33693509/"^^xsd:string) "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:36:35Z"^^xsd:string) AnnotationAssertion( "DOID:9002692"^^xsd:string) AnnotationAssertion( "MIM:619473"^^xsd:string) AnnotationAssertion( "OPDM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081299"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngodistal myopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculopharyngodistal myopathy 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35148830/"^^xsd:string) "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:36:51Z"^^xsd:string) AnnotationAssertion( "DOID:9000611"^^xsd:string) AnnotationAssertion( "MIM:619790"^^xsd:string) AnnotationAssertion( "OPDM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081300"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngodistal myopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intellectual developmental disorder with ocular anomalies and distinctive facial features) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36067766/"^^xsd:string) "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:40:53Z"^^xsd:string) AnnotationAssertion( "DOID:9001279"^^xsd:string) AnnotationAssertion( "MIM:620086"^^xsd:string) AnnotationAssertion( "IDDOF"^^xsd:string) AnnotationAssertion( "MTSS2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MTSS2-related neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081301"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with ocular anomalies and distinctive facial features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diffuse leptomeningeal glioneuronal tumor) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us"^^xsd:string) "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:44:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9509/3"^^xsd:string) AnnotationAssertion( "NCI:C129424"^^xsd:string) AnnotationAssertion( "Diffuse leptomeningeal glioneuronal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081302"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse leptomeningeal glioneuronal tumor"^^xsd:string) SubClassOf( ) # Class: (multinodular and vacuolating neuronal tumor) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us"^^xsd:string) "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:45:45Z"^^xsd:string) AnnotationAssertion( "ICDO:9509/0"^^xsd:string) AnnotationAssertion( "NCI:C129427"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081303"^^xsd:string) AnnotationAssertion(rdfs:label "multinodular and vacuolating neuronal tumor"^^xsd:string) SubClassOf( ) # Class: (high-grade astrocytoma with piloid features) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/"^^xsd:string) "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:46:54Z"^^xsd:string) AnnotationAssertion( "ICDO:9421/3"^^xsd:string) AnnotationAssertion( "NCI:C185879"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081304"^^xsd:string) AnnotationAssertion(rdfs:label "high-grade astrocytoma with piloid features"^^xsd:string) SubClassOf( ) # Class: (polymorphous low grade neuroepithelial tumour of the young) AnnotationAssertion(Annotation( "https://journals.sagepub.com/doi/full/10.1177/20363613221083360"^^xsd:string) "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:48:26Z"^^xsd:string) AnnotationAssertion( "NCI:C180378"^^xsd:string) AnnotationAssertion( "Massively Calcified Low Grade Glioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081305"^^xsd:string) AnnotationAssertion(rdfs:label "polymorphous low grade neuroepithelial tumour of the young"^^xsd:string) SubClassOf( ) # Class: (spindle cell oncocytoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/"^^xsd:string) "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:49:29Z"^^xsd:string) AnnotationAssertion( "ICDO:8290/0"^^xsd:string) AnnotationAssertion( "NCI:C94537"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081306"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell oncocytoma"^^xsd:string) SubClassOf( ) # Class: (lymphomatoid granulomatosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/"^^xsd:string) "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:51:02Z"^^xsd:string) AnnotationAssertion( "DOID:9007761"^^xsd:string) AnnotationAssertion( "ICD10CM:C83.8"^^xsd:string) AnnotationAssertion( "MESH:D008230"^^xsd:string) AnnotationAssertion( "NCI:C7930"^^xsd:string) AnnotationAssertion( "lymphomatoid granulomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081307"^^xsd:string) AnnotationAssertion(rdfs:label "lymphomatoid granulomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (grade I lymphomatoid granulomatosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources"^^xsd:string) "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:52:38Z"^^xsd:string) AnnotationAssertion( "NCI:C7931"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081308"^^xsd:string) AnnotationAssertion(rdfs:label "grade I lymphomatoid granulomatosis"^^xsd:string) SubClassOf( ) # Class: (grade II lymphomatoid granulomatosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources"^^xsd:string) "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:53:27Z"^^xsd:string) AnnotationAssertion( "ICDO:9766/1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081309"^^xsd:string) AnnotationAssertion(rdfs:label "grade II lymphomatoid granulomatosis"^^xsd:string) SubClassOf( ) # Class: (grade III lymphomatoid granulomatosis) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources"^^xsd:string) "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:54:33Z"^^xsd:string) AnnotationAssertion( "ICDO:9766/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081310"^^xsd:string) AnnotationAssertion(rdfs:label "grade III lymphomatoid granulomatosis"^^xsd:string) SubClassOf( ) # Class: (intravascular large B-cell lymphoma) AnnotationAssertion(Annotation( "https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon"^^xsd:string) "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T19:55:46Z"^^xsd:string) AnnotationAssertion( "ICDO:9712/3"^^xsd:string) AnnotationAssertion( "NCI:C4342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081311"^^xsd:string) AnnotationAssertion(rdfs:label "intravascular large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (T-cell non-Hodgkin lymphoma) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html"^^xsd:string) "A non-Hodgkin lymphoma of T-cell lineage. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T18:35:50Z"^^xsd:string) AnnotationAssertion( "DOID:9005436"^^xsd:string) AnnotationAssertion( "ICDO:9702/3"^^xsd:string) AnnotationAssertion( "MESH:D016399"^^xsd:string) AnnotationAssertion( "NCI:C3466"^^xsd:string) AnnotationAssertion( "T-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "T-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081312"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell non-Hodgkin lymphoma"^^xsd:string) SubClassOf( ) # Class: (primary diffuse large B-cell lymphoma of the central nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/"^^xsd:string) "A diffuse large B-cell lymphoma arising from the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T20:02:06Z"^^xsd:string) AnnotationAssertion( "NCI:C71720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081313"^^xsd:string) AnnotationAssertion(rdfs:label "primary diffuse large B-cell lymphoma of the central nervous system"^^xsd:string) SubClassOf( ) # Class: (extraventricular neurocytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24357019/"^^xsd:string) "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T20:03:02Z"^^xsd:string) AnnotationAssertion( "NCI:C92555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081314"^^xsd:string) AnnotationAssertion(rdfs:label "extraventricular neurocytoma"^^xsd:string) SubClassOf( ) # Class: (central nervous system tumor with BCOR internal tandem duplication) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35809497/"^^xsd:string) "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T20:07:41Z"^^xsd:string) AnnotationAssertion( "NCI:C186556"^^xsd:string) AnnotationAssertion( "CNS tumour with BCOR internal tandem duplication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081315"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system tumor with BCOR internal tandem duplication"^^xsd:string) SubClassOf( ) # Class: (primary intracranial sarcoma, DICER1-mutant) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35789272/"^^xsd:string) "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T20:08:36Z"^^xsd:string) AnnotationAssertion( "ICDO:9480/3"^^xsd:string) AnnotationAssertion( "NCI:C186610"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081316"^^xsd:string) AnnotationAssertion(rdfs:label "primary intracranial sarcoma, DICER1-mutant"^^xsd:string) SubClassOf( ) # Class: (multiple synostoses syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11846737/"^^xsd:string) "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:45:29Z"^^xsd:string) AnnotationAssertion( "DOID:9007208"^^xsd:string) AnnotationAssertion( "GARD:3836"^^xsd:string) AnnotationAssertion( "MIM:186500"^^xsd:string) AnnotationAssertion( "DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN"^^xsd:string) AnnotationAssertion( "FACIOAUDIOSYMPHALANGISM SYNDROME"^^xsd:string) AnnotationAssertion( "SYMPHALANGISM-BRACHYDACTYLY SYNDROME"^^xsd:string) AnnotationAssertion( "SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY"^^xsd:string) AnnotationAssertion( "SYNS1"^^xsd:string) AnnotationAssertion( "WL SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081317"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple synostoses syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16532400/"^^xsd:string) "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:45:47Z"^^xsd:string) AnnotationAssertion( "DOID:9006580"^^xsd:string) AnnotationAssertion( "MIM:610017"^^xsd:string) AnnotationAssertion( "GARD:9916"^^xsd:string) AnnotationAssertion( "MESH:C537380"^^xsd:string) AnnotationAssertion( "SYNS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081318"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome 2"^^xsd:string) SubClassOf( ) # Class: (multiple synostoses syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28730625/"^^xsd:string) "A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:45:58Z"^^xsd:string) AnnotationAssertion( "DOID:9002671"^^xsd:string) AnnotationAssertion( "MIM:612961"^^xsd:string) AnnotationAssertion( "MESH:C567839"^^xsd:string) AnnotationAssertion( "SYNS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081319"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome 3"^^xsd:string) SubClassOf( ) # Class: (multiple synostoses syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29130651/"^^xsd:string) "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:46:08Z"^^xsd:string) AnnotationAssertion( "DOID:9009151"^^xsd:string) AnnotationAssertion( "MIM:617898"^^xsd:string) AnnotationAssertion( "SYNS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081320"^^xsd:string) AnnotationAssertion(rdfs:label "multiple synostoses syndrome 4"^^xsd:string) SubClassOf( ) # Class: (contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29805041/"^^xsd:string) "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:51:25Z"^^xsd:string) AnnotationAssertion( "DOID:9004135"^^xsd:string) AnnotationAssertion( "MIM:178110"^^xsd:string) AnnotationAssertion( "MESH:C566739"^^xsd:string) AnnotationAssertion( "ORDO:65743"^^xsd:string) AnnotationAssertion( "CPSFS1A"^^xsd:string) AnnotationAssertion( "CPSKF1A"^^xsd:string) AnnotationAssertion( "autosomal dominant multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "contractures, pterygia, and variable skeletal fusions syndrome 1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DA8"^^xsd:string) AnnotationAssertion( "distal arthrogryposis, type 8"^^xsd:string) AnnotationAssertion( "DOID:0081321"^^xsd:string) AnnotationAssertion(rdfs:label "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29805041/"^^xsd:string) "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9003440"^^xsd:string) AnnotationAssertion( "GARD:7111"^^xsd:string) AnnotationAssertion( "MIM:618469"^^xsd:string) AnnotationAssertion( "ORDO:2990"^^xsd:string) AnnotationAssertion( "Autosomal recessive multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "CPSFS1B"^^xsd:string) AnnotationAssertion( "CPSKF1B"^^xsd:string) AnnotationAssertion( "contractures, pterygia, and variable skeletal fusions syndrome 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081322"^^xsd:string) AnnotationAssertion(rdfs:label "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast implant illness) AnnotationAssertion(Annotation( "https://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/"^^xsd:string) "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:55:48Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081323"^^xsd:string) AnnotationAssertion(rdfs:label "breast implant illness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35861243/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T12:57:01Z"^^xsd:string) AnnotationAssertion( "DOID:9003640"^^xsd:string) AnnotationAssertion( "MIM:620071"^^xsd:string) AnnotationAssertion( "BKAH"^^xsd:string) AnnotationAssertion( "Birk-Aharoni syndrome"^^xsd:string) AnnotationAssertion( "NEDGTH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081324"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 94) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23708187/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T13:05:09Z"^^xsd:string) AnnotationAssertion( "DOID:9001359"^^xsd:string) AnnotationAssertion( "EFO:0020000"^^xsd:string) AnnotationAssertion( "MIM:615369"^^xsd:string) AnnotationAssertion( "CHD2-related disorder"^^xsd:string) AnnotationAssertion( "DEE94"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081325"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 94"^^xsd:string) SubClassOf( ) # Class: (oxoglutarate dehydrogenase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32383294/"^^xsd:string) "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T13:07:01Z"^^xsd:string) AnnotationAssertion( "DOID:9006776"^^xsd:string) AnnotationAssertion( "MIM:203740"^^xsd:string) AnnotationAssertion( "GARD:617"^^xsd:string) AnnotationAssertion( "MESH:C536582"^^xsd:string) AnnotationAssertion( "ORDO:31"^^xsd:string) AnnotationAssertion( "2-alpha-ketoglutarate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "2-ketoglutarate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "ALPHA-KGD DEFICIENCY"^^xsd:string) AnnotationAssertion( "OGDHD"^^xsd:string) AnnotationAssertion( "Oxoglutaric Aciduria"^^xsd:string) AnnotationAssertion( "alpha-ketoglutarate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081326"^^xsd:string) AnnotationAssertion(rdfs:label "oxoglutarate dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30057031/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30166628/"^^xsd:string) Annotation( "https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/"^^xsd:string) Annotation( "https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder"^^xsd:string) Annotation( "https://www.childneurologyfoundation.org/disorder/irf2bpl/"^^xsd:string) "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T13:08:58Z"^^xsd:string) AnnotationAssertion( "DOID:9009222"^^xsd:string) AnnotationAssertion( "IRF2BPL-related condition"^^xsd:string) AnnotationAssertion( "MIM:618088"^^xsd:string) AnnotationAssertion( "NEDAMSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081327"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial hyperinsulinemic hypoglycemia 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34971397/"^^xsd:string) "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T15:57:18Z"^^xsd:string) AnnotationAssertion( "DOID:9006400"^^xsd:string) AnnotationAssertion( "MIM:620211"^^xsd:string) AnnotationAssertion( "HHF8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081328"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperinsulinemic hypoglycemia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease I) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1312/"^^xsd:string) Annotation( "https://www.omim.org/entry/232200#33"^^xsd:string) "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T16:02:55Z"^^xsd:string) AnnotationAssertion( "EFO:0007288"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.01"^^xsd:string) AnnotationAssertion( "MESH:D005953"^^xsd:string) AnnotationAssertion( "MONDO:0002413"^^xsd:string) AnnotationAssertion( "NCI:C84733"^^xsd:string) AnnotationAssertion( "ORDO:364"^^xsd:string) AnnotationAssertion( "Gierke disease"^^xsd:string) AnnotationAssertion( "Gierke's disease"^^xsd:string) AnnotationAssertion( "Gierkes disease"^^xsd:string) AnnotationAssertion( "Glucose 6 Phosphatase Deficiency"^^xsd:string) AnnotationAssertion( "Glucose-6-Phosphatase Deficiencies"^^xsd:string) AnnotationAssertion( "Glucosephosphatase Deficiency"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 1"^^xsd:string) AnnotationAssertion( "Glycogenosis 1"^^xsd:string) AnnotationAssertion( "deficiency of glucose-6-phosphatase"^^xsd:string) AnnotationAssertion( "glucosephosphatase deficiencies"^^xsd:string) AnnotationAssertion( "glycogen storage disease 1 (GSD I)"^^xsd:string) AnnotationAssertion( "glycogen storage disease type I"^^xsd:string) AnnotationAssertion( "glycogenosis type I"^^xsd:string) AnnotationAssertion( "hepatorenal glycogen storage disease"^^xsd:string) AnnotationAssertion( "von Gierke Disease"^^xsd:string) AnnotationAssertion( "von Gierke's disease"^^xsd:string) AnnotationAssertion( "von Gierkes disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081329"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease I"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease Ib) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31536830/"^^xsd:string) "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T16:09:50Z"^^xsd:string) AnnotationAssertion( "DOID:9000306"^^xsd:string) AnnotationAssertion( "MIM:232220"^^xsd:string) AnnotationAssertion( "MESH:C562594"^^xsd:string) AnnotationAssertion( "NCI:C122661"^^xsd:string) AnnotationAssertion( "GSD Ib"^^xsd:string) AnnotationAssertion( "GSD1B"^^xsd:string) AnnotationAssertion( "glucose-6-phosphate transport defect"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081330"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease Ib"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease Ic) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10598822/"^^xsd:string) "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T16:11:29Z"^^xsd:string) AnnotationAssertion( "DOID:9008172"^^xsd:string) AnnotationAssertion( "MIM:232240"^^xsd:string) AnnotationAssertion( "MESH:C562805"^^xsd:string) AnnotationAssertion( "GSD IC"^^xsd:string) AnnotationAssertion( "GSD1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081331"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease Ic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progeroid syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34272172/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/"^^xsd:string) "A syndrome that is characterized by the premature onset of age-related pathologies. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T15:28:51Z"^^xsd:string) AnnotationAssertion( "MIM:PS176670"^^xsd:string) AnnotationAssertion( "progeroid disease"^^xsd:string) AnnotationAssertion( "progeroid syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081332"^^xsd:string) AnnotationAssertion(rdfs:label "progeroid syndrome"^^xsd:string) SubClassOf( ) # Class: (Wiedemann-Rautenstrauch syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23696134/"^^xsd:string) "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T16:16:17Z"^^xsd:string) AnnotationAssertion( "DOID:9008367"^^xsd:string) AnnotationAssertion( "POLR3A-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "POLR3A-RELATED NEUROLOGICAL DISORDER"^^xsd:string) AnnotationAssertion( "GARD:330"^^xsd:string) AnnotationAssertion( "MESH:C536423"^^xsd:string) AnnotationAssertion( "MIM:264090"^^xsd:string) AnnotationAssertion( "MONDO:0009910"^^xsd:string) AnnotationAssertion( "NCI:C121565"^^xsd:string) AnnotationAssertion( "ORDO:3455"^^xsd:string) AnnotationAssertion( "WDRTS"^^xsd:string) AnnotationAssertion( "WIEDEMANN-RAUTENSTRAUCH-LIKE PROGEROID SYNDROME"^^xsd:string) AnnotationAssertion( "neonatal progeroid syndrome"^^xsd:string) AnnotationAssertion( "neonatal pseudo-hydrocephalic progeroid syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081333"^^xsd:string) AnnotationAssertion(rdfs:label "Wiedemann-Rautenstrauch syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nestor-Guillermo progeria syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32783369/"^^xsd:string) "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T16:18:57Z"^^xsd:string) AnnotationAssertion( "DOID:9000907"^^xsd:string) AnnotationAssertion( "GARD:11008"^^xsd:string) AnnotationAssertion( "MIM:614008"^^xsd:string) AnnotationAssertion( "ORDO:280576"^^xsd:string) AnnotationAssertion( "NGPS"^^xsd:string) AnnotationAssertion( "PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS"^^xsd:string) AnnotationAssertion( "PSCOO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081334"^^xsd:string) AnnotationAssertion(rdfs:label "Nestor-Guillermo progeria syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Becker disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8301644/"^^xsd:string) "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T19:43:01Z"^^xsd:string) AnnotationAssertion( "DOID:9009057"^^xsd:string) AnnotationAssertion( "MIM:255300"^^xsd:string) AnnotationAssertion( "MIM:255700"^^xsd:string) AnnotationAssertion( "CONGENITAL MYOTONIA, AUTOSOMAL RECESSIVE FORM"^^xsd:string) AnnotationAssertion( "Myotonia Congenita, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081335"^^xsd:string) AnnotationAssertion(rdfs:label "Becker disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thomsen disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11840191/"^^xsd:string) "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T19:49:34Z"^^xsd:string) AnnotationAssertion( "DOID:9001336"^^xsd:string) AnnotationAssertion( "MIM:160800"^^xsd:string) AnnotationAssertion( "Myotonia Congenita, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "THD"^^xsd:string) AnnotationAssertion( "Thomsen Generalized Myotonia"^^xsd:string) AnnotationAssertion( "Thomsen's Disease"^^xsd:string) AnnotationAssertion( "Thomsens disease"^^xsd:string) AnnotationAssertion( "congenital myotonia, autosomal dominant form"^^xsd:string) AnnotationAssertion( "generalized myotonia of Thomsen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081336"^^xsd:string) AnnotationAssertion(rdfs:label "Thomsen disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy) AnnotationAssertion(Annotation( "https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z"^^xsd:string) "A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T11:59:47Z"^^xsd:string) AnnotationAssertion( "DOID:0080100"^^xsd:string) AnnotationAssertion( "MIM:PS117000"^^xsd:string) AnnotationAssertion( "Batten Turner congenital myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081337"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy"^^xsd:string) SubClassOf( ) # Class: (myofibrillar myopathy 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33217308/"^^xsd:string) "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T19:53:55Z"^^xsd:string) AnnotationAssertion( "DOID:9007506"^^xsd:string) AnnotationAssertion( "MIM:619178"^^xsd:string) AnnotationAssertion( "MONDO:0030927"^^xsd:string) AnnotationAssertion( "MFM11"^^xsd:string) AnnotationAssertion( "congenital myopathy with eccentric cores"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081338"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 11"^^xsd:string) SubClassOf( ) # Class: (congenital myopathy 2B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25182138/"^^xsd:string) "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T19:59:09Z"^^xsd:string) AnnotationAssertion( "MIM:620265"^^xsd:string) AnnotationAssertion( "MONDO:0859517"^^xsd:string) AnnotationAssertion( "CMYO2B"^^xsd:string) AnnotationAssertion( "CMYP2B"^^xsd:string) AnnotationAssertion( "congenital myopathy 2B, severe infantile, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081339"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 2C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34561123/"^^xsd:string) "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:07:26Z"^^xsd:string) AnnotationAssertion( "MIM:620278"^^xsd:string) AnnotationAssertion( "MONDO:0859523"^^xsd:string) AnnotationAssertion( "CMYO2C"^^xsd:string) AnnotationAssertion( "CMYP2C"^^xsd:string) AnnotationAssertion( "congenital myopathy 2C, severe infantile, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081340"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24105469/"^^xsd:string) "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:11:45Z"^^xsd:string) AnnotationAssertion( "DOID:9006785"^^xsd:string) AnnotationAssertion( "MIM:611705"^^xsd:string) AnnotationAssertion( "MESH:C567129"^^xsd:string) AnnotationAssertion( "ORDO:289377"^^xsd:string) AnnotationAssertion( "CMYP5"^^xsd:string) AnnotationAssertion( "Congenital Myopathy 5 with Cardiomyopathy"^^xsd:string) AnnotationAssertion( "EOMFC"^^xsd:string) AnnotationAssertion( "Early-Onset Myopathy with Fatal Cardiomyopathy"^^xsd:string) AnnotationAssertion( "SALMY"^^xsd:string) AnnotationAssertion( "Salih Cmd"^^xsd:string) AnnotationAssertion( "Salih Congenital Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Salih Myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081341"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30701273/"^^xsd:string) "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:14:59Z"^^xsd:string) AnnotationAssertion( "DOID:9004417"^^xsd:string) AnnotationAssertion( "MIM:618654"^^xsd:string) AnnotationAssertion( "CMYP8"^^xsd:string) AnnotationAssertion( "Congenital Myopathy with Structured Cores and Z-Line Abnormalities"^^xsd:string) AnnotationAssertion( "MSCD"^^xsd:string) AnnotationAssertion( "MULTIPLE STRUCTURED CORE DISEASE"^^xsd:string) AnnotationAssertion( "MYOCOZ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081342"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 9A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30770808/"^^xsd:string) "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:23:24Z"^^xsd:string) AnnotationAssertion( "DOID:9006903"^^xsd:string) AnnotationAssertion( "MIM:618822"^^xsd:string) AnnotationAssertion( "CMYP9A"^^xsd:string) AnnotationAssertion( "MYORIBF"^^xsd:string) AnnotationAssertion( "congenital myopathy 9A with respiratory insufficiency and bone fractures"^^xsd:string) AnnotationAssertion( "congenital myopathy with respiratory insufficiency and bone fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081343"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 9A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 9B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30770808/"^^xsd:string) "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:25:36Z"^^xsd:string) AnnotationAssertion( "DOID:9002436"^^xsd:string) AnnotationAssertion( "MIM:618823"^^xsd:string) AnnotationAssertion( "CMYO9B"^^xsd:string) AnnotationAssertion( "CMYP9B"^^xsd:string) AnnotationAssertion( "Congenital Myopathy 9B, Proximal, with Minicore Lesions"^^xsd:string) AnnotationAssertion( "Congenital Proximal Myopathy with Minicore Lesions"^^xsd:string) AnnotationAssertion( "MYOPMIL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081344"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 9B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 10B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29128256/"^^xsd:string) "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:28:07Z"^^xsd:string) AnnotationAssertion( "MIM:620249"^^xsd:string) AnnotationAssertion( "MONDO:0859515"^^xsd:string) AnnotationAssertion( "CMYO10B"^^xsd:string) AnnotationAssertion( "CMYP10B"^^xsd:string) AnnotationAssertion( "Congenital myopathy 10B, mild variant"^^xsd:string) AnnotationAssertion( "MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081345"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 10B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30215711/"^^xsd:string) "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:37:44Z"^^xsd:string) AnnotationAssertion( "DOID:9001348"^^xsd:string) AnnotationAssertion( "MIM:618414"^^xsd:string) AnnotationAssertion( "ORDO:544602"^^xsd:string) AnnotationAssertion( "CMYP14"^^xsd:string) AnnotationAssertion( "Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy"^^xsd:string) AnnotationAssertion( "MYOFTA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081346"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33755597/"^^xsd:string) "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:41:21Z"^^xsd:string) AnnotationAssertion( "DOID:9006710"^^xsd:string) AnnotationAssertion( "MIM:620161"^^xsd:string) AnnotationAssertion( "MONDO:0859335"^^xsd:string) AnnotationAssertion( "CMYO15"^^xsd:string) AnnotationAssertion( "CMYP15"^^xsd:string) AnnotationAssertion( "MYONRI"^^xsd:string) AnnotationAssertion( "MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081347"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31025394/"^^xsd:string) "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:42:45Z"^^xsd:string) AnnotationAssertion( "DOID:9004398"^^xsd:string) AnnotationAssertion( "MIM:618524"^^xsd:string) AnnotationAssertion( "CMYP16"^^xsd:string) AnnotationAssertion( "Congenital Myopathy with Tremor"^^xsd:string) AnnotationAssertion( "MYOTREM"^^xsd:string) AnnotationAssertion( "myogenic tremor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081348"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 16"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30403323/"^^xsd:string) "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:43:59Z"^^xsd:string) AnnotationAssertion( "DOID:9009026"^^xsd:string) AnnotationAssertion( "MIM:618975"^^xsd:string) AnnotationAssertion( "CMYO17"^^xsd:string) AnnotationAssertion( "CMYP17"^^xsd:string) AnnotationAssertion( "MYODRIF"^^xsd:string) AnnotationAssertion( "MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081349"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 17"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33060286/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34763287/"^^xsd:string) "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:45:32Z"^^xsd:string) AnnotationAssertion( "DOID:9005248"^^xsd:string) AnnotationAssertion( "MIM:620246"^^xsd:string) AnnotationAssertion( "MONDO:0859514"^^xsd:string) AnnotationAssertion( "CMYO18"^^xsd:string) AnnotationAssertion( "CMYP18"^^xsd:string) AnnotationAssertion( "Congenital myopathy 18 due to dihydropyridine receptor defect"^^xsd:string) AnnotationAssertion( "DHPR CONGENITAL MYOPATHY"^^xsd:string) AnnotationAssertion( "DHPRM"^^xsd:string) AnnotationAssertion( "DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY"^^xsd:string) AnnotationAssertion( "MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081350"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 18"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31092906/"^^xsd:string) "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:47:40Z"^^xsd:string) AnnotationAssertion( "DOID:9002481"^^xsd:string) AnnotationAssertion( "EFO:0010565"^^xsd:string) AnnotationAssertion( "MIM:618578"^^xsd:string) AnnotationAssertion( "CMYP19"^^xsd:string) AnnotationAssertion( "MYOSCO"^^xsd:string) AnnotationAssertion( "Progressive Congenital Myopathy with Scoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081351"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 19"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29498452/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31230720/"^^xsd:string) "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:49:28Z"^^xsd:string) AnnotationAssertion( "DOID:9006540"^^xsd:string) AnnotationAssertion( "RYR3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620310"^^xsd:string) AnnotationAssertion( "MONDO:0957215"^^xsd:string) AnnotationAssertion( "CMYO20"^^xsd:string) AnnotationAssertion( "CMYP20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081352"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36264506/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36344539/"^^xsd:string) "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T20:58:21Z"^^xsd:string) AnnotationAssertion( "DOID:9001370"^^xsd:string) AnnotationAssertion( "MIM:620326"^^xsd:string) AnnotationAssertion( "MONDO:0957224"^^xsd:string) AnnotationAssertion( "CMYO21"^^xsd:string) AnnotationAssertion( "CMYP21"^^xsd:string) AnnotationAssertion( "Congenital Myopathy 21 with Early Respiratory Failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081353"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 21"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 22A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26700687/"^^xsd:string) "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:00:55Z"^^xsd:string) AnnotationAssertion( "DOID:9006585"^^xsd:string) AnnotationAssertion( "Congenital Myopathy 22"^^xsd:string) AnnotationAssertion( "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "MIM:620351"^^xsd:string) AnnotationAssertion( "MONDO:0957247"^^xsd:string) AnnotationAssertion( "CMYO22A"^^xsd:string) AnnotationAssertion( "CMYP22A"^^xsd:string) AnnotationAssertion( "congenital myopathy 22A, classic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081354"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 22A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 22B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26700687/"^^xsd:string) "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:18:58Z"^^xsd:string) AnnotationAssertion( "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "MIM:620369"^^xsd:string) AnnotationAssertion( "MONDO:0957265"^^xsd:string) AnnotationAssertion( "CMYO22B"^^xsd:string) AnnotationAssertion( "CMYP22B"^^xsd:string) AnnotationAssertion( "congenital myopathy 22B, severe fetal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081355"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 22B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal muscular atrophy, Jokela type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36158221/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK304142/"^^xsd:string) "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:23:08Z"^^xsd:string) AnnotationAssertion( "DOID:9004598"^^xsd:string) AnnotationAssertion( "MIM:615048"^^xsd:string) AnnotationAssertion( "ORDO:276435"^^xsd:string) AnnotationAssertion( "SMAJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081356"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy, Jokela type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated mitochondrial myopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35700042/"^^xsd:string) "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:25:16Z"^^xsd:string) AnnotationAssertion( "DOID:9008878"^^xsd:string) AnnotationAssertion( "MIM:616209"^^xsd:string) AnnotationAssertion( "ORDO:457050"^^xsd:string) AnnotationAssertion( "Autosomal dominant mitochondrial myopathy with exercise intolerance"^^xsd:string) AnnotationAssertion( "IMMD"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081357"^^xsd:string) AnnotationAssertion(rdfs:label "isolated mitochondrial myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolytic hyperkeratosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11531804/"^^xsd:string) "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:27:10Z"^^xsd:string) AnnotationAssertion( "DOID:9006135"^^xsd:string) AnnotationAssertion( "MIM:113800"^^xsd:string) AnnotationAssertion( "ORDO:312"^^xsd:string) AnnotationAssertion( "EHK1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081358"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic hyperkeratosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolytic hyperkeratosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19474805/"^^xsd:string) "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:28:50Z"^^xsd:string) AnnotationAssertion( "DOID:9004068"^^xsd:string) AnnotationAssertion( "MIM:620150"^^xsd:string) AnnotationAssertion( "MIM:620707"^^xsd:string) AnnotationAssertion( "EHK2"^^xsd:string) AnnotationAssertion( "EHK2A"^^xsd:string) AnnotationAssertion( "EHK2B"^^xsd:string) AnnotationAssertion( "epidermolytic hyperkeratosis 2A, autosomal dominant"^^xsd:string) AnnotationAssertion( "epidermolytic hyperkeratosis 2B, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081359"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic hyperkeratosis 2"^^xsd:string) SubClassOf( ) # Class: (spastic quadriplegic cerebral palsy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16301218/"^^xsd:string) "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:30:24Z"^^xsd:string) AnnotationAssertion( "DOID:9003517"^^xsd:string) AnnotationAssertion( "MIM:612900"^^xsd:string) AnnotationAssertion( "MESH:C567867"^^xsd:string) AnnotationAssertion( "CPSQ2"^^xsd:string) AnnotationAssertion( "KANK1- RELATED DISORDER"^^xsd:string) AnnotationAssertion( "KANK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081360"^^xsd:string) AnnotationAssertion(rdfs:label "spastic quadriplegic cerebral palsy 2"^^xsd:string) SubClassOf( ) # Class: (spastic quadriplegic cerebral palsy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23836506/"^^xsd:string) "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:32:27Z"^^xsd:string) AnnotationAssertion( "MIM:617008"^^xsd:string) AnnotationAssertion( "CPSQ3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081361"^^xsd:string) AnnotationAssertion(rdfs:label "spastic quadriplegic cerebral palsy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pierpont syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26769062/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:37:20Z"^^xsd:string) AnnotationAssertion( "DOID:9007450"^^xsd:string) AnnotationAssertion( "MIM:602342"^^xsd:string) AnnotationAssertion( "TBL1XR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TBL1XR1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME"^^xsd:string) AnnotationAssertion( "MESH:C566559"^^xsd:string) AnnotationAssertion( "ORDO:487825"^^xsd:string) AnnotationAssertion( "PRPTS"^^xsd:string) AnnotationAssertion( "Plantar lipomatosis, unusual facies, and developmental delay"^^xsd:string) AnnotationAssertion( "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome"^^xsd:string) AnnotationAssertion( "Plantar lipomatosis-unusual facies-developmental delay syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081362"^^xsd:string) AnnotationAssertion(rdfs:label "Pierpont syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal myopathy with rimmed vacuoles) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25114083/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26208961/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33125541/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37188302/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37205240/"^^xsd:string) "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:39:39Z"^^xsd:string) AnnotationAssertion( "MIM:617158"^^xsd:string) AnnotationAssertion( "distal myopathy, with or without rimmed vacuoles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081363"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy with rimmed vacuoles"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27545679/"^^xsd:string) "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:45:58Z"^^xsd:string) AnnotationAssertion( "DOID:9005240"^^xsd:string) AnnotationAssertion( "MIM:617145"^^xsd:string) AnnotationAssertion( "NADGP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081364"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"^^xsd:string) SubClassOf( ) # Class: (Paget's disease of bone 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24988994/"^^xsd:string) "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-31T21:48:46Z"^^xsd:string) AnnotationAssertion( "DOID:9003060"^^xsd:string) AnnotationAssertion( "MIM:602080"^^xsd:string) AnnotationAssertion( "MONDO:0011183"^^xsd:string) AnnotationAssertion( "PDB2"^^xsd:string) AnnotationAssertion( "Paget Disease of Bone 2, Early-Onset"^^xsd:string) AnnotationAssertion( "Paget disease of bone-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081365"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paget's disease of bone 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24988994/"^^xsd:string) "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-01T14:01:37Z"^^xsd:string) AnnotationAssertion( "DOID:9007946"^^xsd:string) AnnotationAssertion( "MIM:167250"^^xsd:string) AnnotationAssertion( "PDB3"^^xsd:string) AnnotationAssertion( "Paget Disease of Bone 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081366"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paget's disease of bone 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11473345/"^^xsd:string) "A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-01T14:03:53Z"^^xsd:string) AnnotationAssertion( "DOID:9006119"^^xsd:string) AnnotationAssertion( "MIM:606263"^^xsd:string) AnnotationAssertion( "MESH:C565240"^^xsd:string) AnnotationAssertion( "PDB4"^^xsd:string) AnnotationAssertion( "Paget Disease of Bone 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081367"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paget's disease of bone 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25108083/"^^xsd:string) "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-01T14:05:18Z"^^xsd:string) AnnotationAssertion( "DOID:9005421"^^xsd:string) AnnotationAssertion( "MIM:239000"^^xsd:string) AnnotationAssertion( "elevated alkaline phosphatase"^^xsd:string) AnnotationAssertion( "GARD:2831"^^xsd:string) AnnotationAssertion( "MESH:C537701"^^xsd:string) AnnotationAssertion( "NCI:C131861"^^xsd:string) AnnotationAssertion( "ORDO:2801"^^xsd:string) AnnotationAssertion( "Hereditary hyperphosphatasia"^^xsd:string) AnnotationAssertion( "Idiopathic Hyperphosphatasia"^^xsd:string) AnnotationAssertion( "JPD"^^xsd:string) AnnotationAssertion( "PDB5"^^xsd:string) AnnotationAssertion( "Paget Disease of Bone 5, Juvenile-Onset"^^xsd:string) AnnotationAssertion( "Paget disease of bone-5"^^xsd:string) AnnotationAssertion( "chronic congenital idiopathic hyperphosphatasemia"^^xsd:string) AnnotationAssertion( "familial idiopathic hyperphosphatasemia"^^xsd:string) AnnotationAssertion( "familial idiopathic hyperphosphatasia"^^xsd:string) AnnotationAssertion( "familial osteoectasia"^^xsd:string) AnnotationAssertion( "hyperostosis corticalis deformans juvenilis"^^xsd:string) AnnotationAssertion( "hyperphosphatasemia with bone disease"^^xsd:string) AnnotationAssertion( "juvenile Paget disease"^^xsd:string) AnnotationAssertion( "juvenile Paget's disease"^^xsd:string) AnnotationAssertion( "osteochalasia desmalis familiaris"^^xsd:string) AnnotationAssertion( "osteoectasia with hyperphosphatasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081368"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paget's disease of bone 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26849110/"^^xsd:string) "A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-01T14:07:09Z"^^xsd:string) AnnotationAssertion( "DOID:9001120"^^xsd:string) AnnotationAssertion( "MIM:616833"^^xsd:string) AnnotationAssertion( "PDB6"^^xsd:string) AnnotationAssertion( "Paget Disease of Bone 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081369"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (LADD syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/"^^xsd:string) "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T19:45:51Z"^^xsd:string) AnnotationAssertion( "MESH:C538132"^^xsd:string) AnnotationAssertion( "MIM:PS149730"^^xsd:string) AnnotationAssertion( "ORDO:2363"^^xsd:string) AnnotationAssertion( "LADD"^^xsd:string) AnnotationAssertion( "Lacrimo-auriculo-dento-digital (LADD) syndrome"^^xsd:string) AnnotationAssertion( "Levy Hollister syndrome"^^xsd:string) AnnotationAssertion( "lacrimoauriculodentodigital syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081370"^^xsd:string) AnnotationAssertion(rdfs:label "LADD syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lacrimoauriculodentodigital syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16501574/"^^xsd:string) "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T22:07:31Z"^^xsd:string) AnnotationAssertion( "DOID:9002835"^^xsd:string) AnnotationAssertion( "MIM:620192"^^xsd:string) AnnotationAssertion( "LADD Syndrome 2"^^xsd:string) AnnotationAssertion( "LADD2"^^xsd:string) AnnotationAssertion( "Lacrimo-auriculo-dento-digital syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081371"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimoauriculodentodigital syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimoauriculodentodigital syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16630169/"^^xsd:string) "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-29T22:09:45Z"^^xsd:string) AnnotationAssertion( "DOID:9008206"^^xsd:string) AnnotationAssertion( "MIM:620193"^^xsd:string) AnnotationAssertion( "LADD Syndrome 3"^^xsd:string) AnnotationAssertion( "LADD3"^^xsd:string) AnnotationAssertion( "Lacrimo-auriculo-dento-digital syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081372"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimoauriculodentodigital syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (disabling pansclerotic morphea) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30838436/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37256972/"^^xsd:string) "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-08T09:03:21Z"^^xsd:string) AnnotationAssertion( "DOID:0080002"^^xsd:string) AnnotationAssertion( "STAT4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620443"^^xsd:string) AnnotationAssertion( "disabling pansclerotic morphea of childhood"^^xsd:string) AnnotationAssertion( "juvenile localized scleroderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081373"^^xsd:string) AnnotationAssertion(rdfs:label "disabling pansclerotic morphea"^^xsd:string) SubClassOf( ) # Class: (nemaline myopathy 5B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35165004/"^^xsd:string) "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-08T09:09:04Z"^^xsd:string) AnnotationAssertion( "DOID:0080003"^^xsd:string) AnnotationAssertion( "MIM:620386"^^xsd:string) AnnotationAssertion( "NEM5B"^^xsd:string) AnnotationAssertion( "NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081374"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 5B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 5C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35510366/"^^xsd:string) "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-08T09:11:06Z"^^xsd:string) AnnotationAssertion( "DOID:0080004"^^xsd:string) AnnotationAssertion( "MIM:620389"^^xsd:string) AnnotationAssertion( "NEM5C"^^xsd:string) AnnotationAssertion( "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081375"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 5C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (COX deficiency, benign infantile mitochondrial myopathy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-08T09:14:16Z"^^xsd:string) AnnotationAssertion( "DOID:0080035"^^xsd:string) AnnotationAssertion( "GARD:48"^^xsd:string) AnnotationAssertion( "ORDO:254905"^^xsd:string) AnnotationAssertion( "isolated cytochrome C oxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081377"^^xsd:string) AnnotationAssertion(rdfs:label "COX deficiency, benign infantile mitochondrial myopathy"^^xsd:string) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26945885/"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:46:43Z"^^xsd:string) AnnotationAssertion( "DOID:9009135"^^xsd:string) AnnotationAssertion( "NEK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617892"^^xsd:string) AnnotationAssertion( "ALS24"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "susceptibility to amyotrophic lateral sclerosis-24"^^xsd:string) AnnotationAssertion( "DOID:0081378"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29566793/"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:46:57Z"^^xsd:string) AnnotationAssertion( "DOID:9009136"^^xsd:string) AnnotationAssertion( "MIM:617921"^^xsd:string) AnnotationAssertion( "NCI:C189922"^^xsd:string) AnnotationAssertion( "ALS25"^^xsd:string) AnnotationAssertion( "KIF5A-related amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "susceptibility to amyotrophic lateral sclerosis-25"^^xsd:string) AnnotationAssertion( "DOID:0081379"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28817800/"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:47:14Z"^^xsd:string) AnnotationAssertion( "DOID:9004406"^^xsd:string) AnnotationAssertion( "MIM:619133"^^xsd:string) AnnotationAssertion( "ALS26"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 26"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis-26 with or without frontotemporal dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081380"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile amyotrophic lateral sclerosis type 27) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34059824/"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:47:27Z"^^xsd:string) AnnotationAssertion( "DOID:9005364"^^xsd:string) AnnotationAssertion( "MIM:620285"^^xsd:string) AnnotationAssertion( "ALS27"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081381"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile amyotrophic lateral sclerosis type 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis type 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37339631/"^^xsd:string) "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-23T10:47:39Z"^^xsd:string) AnnotationAssertion( "DOID:9007566"^^xsd:string) AnnotationAssertion( "MIM:620452"^^xsd:string) AnnotationAssertion( "ALS28"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081382"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis type 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ataxia-oculomotor apraxia type 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25728773/"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:30:18Z"^^xsd:string) AnnotationAssertion( "DOID:9004565"^^xsd:string) AnnotationAssertion( "EFO:0009016"^^xsd:string) AnnotationAssertion( "GARD:13111"^^xsd:string) AnnotationAssertion( "MIM:616267"^^xsd:string) AnnotationAssertion( "ORDO:459033"^^xsd:string) AnnotationAssertion( "AOA4"^^xsd:string) AnnotationAssertion( "Ataxia with Oculomotor Apraxia Type 4"^^xsd:string) AnnotationAssertion( "Ataxia-Oculomotor Apraxia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081383"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia-oculomotor apraxia type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ataxia-telangiectasia-like disorder-1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10612394/"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:32:12Z"^^xsd:string) AnnotationAssertion( "DOID:9007720"^^xsd:string) AnnotationAssertion( "MIM:604391"^^xsd:string) AnnotationAssertion( "NCI:C132224"^^xsd:string) AnnotationAssertion( "ORDO:251347"^^xsd:string) AnnotationAssertion( "ATLD1"^^xsd:string) AnnotationAssertion( "MRE11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081384"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia-telangiectasia-like disorder-1"^^xsd:string) SubClassOf( ) # Class: (ataxia-telangiectasia-like disorder-2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24911150/"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:34:16Z"^^xsd:string) AnnotationAssertion( "DOID:9002196"^^xsd:string) AnnotationAssertion( "MIM:615919"^^xsd:string) AnnotationAssertion( "ORDO:438134"^^xsd:string) AnnotationAssertion( "ATLD2"^^xsd:string) AnnotationAssertion( "PCNA-related progressive neurodegenerative photosensitivity syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081385"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia-telangiectasia-like disorder-2"^^xsd:string) SubClassOf( ) # Class: (TANGO2-related metabolic encephalopathy and arrythmias) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26805782/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK476443/"^^xsd:string) "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:36:25Z"^^xsd:string) AnnotationAssertion( "DOID:9005324"^^xsd:string) AnnotationAssertion( "GARD:13423"^^xsd:string) AnnotationAssertion( "MIM:616878"^^xsd:string) AnnotationAssertion( "ORDO:480864"^^xsd:string) AnnotationAssertion( "MECRCN"^^xsd:string) AnnotationAssertion( "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION"^^xsd:string) AnnotationAssertion( "Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration"^^xsd:string) AnnotationAssertion( "TANGO2 deficiency"^^xsd:string) AnnotationAssertion( "TANGO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081386"^^xsd:string) AnnotationAssertion(rdfs:label "TANGO2-related metabolic encephalopathy and arrythmias"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37054711/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:38:52Z"^^xsd:string) AnnotationAssertion( "DOID:9000593"^^xsd:string) AnnotationAssertion( "MIM:620428"^^xsd:string) AnnotationAssertion( "NEDMLOB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081387"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"^^xsd:string) SubClassOf( ) # Class: (primary progressive aphasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21325651/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29392464/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/"^^xsd:string) "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:41:04Z"^^xsd:string) AnnotationAssertion( "DOID:9008293"^^xsd:string) AnnotationAssertion( "EFO:0009053"^^xsd:string) AnnotationAssertion( "GARD:8541"^^xsd:string) AnnotationAssertion( "MESH:D018888"^^xsd:string) AnnotationAssertion( "ORDO:95432"^^xsd:string) AnnotationAssertion( "Mesulam Syndrome"^^xsd:string) AnnotationAssertion( "Mesulam's Syndrome"^^xsd:string) AnnotationAssertion( "Primary Progressive Aphasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Primary Progressive Aphasia, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:0081388"^^xsd:string) AnnotationAssertion(rdfs:label "primary progressive aphasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (logopenic progressive aphasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21325651/"^^xsd:string) "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:43:47Z"^^xsd:string) AnnotationAssertion( "GARD:10791"^^xsd:string) AnnotationAssertion( "ORDO:250831"^^xsd:string) AnnotationAssertion( "Logopenic primary progressive aphasia"^^xsd:string) AnnotationAssertion( "logopenic variant PPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081389"^^xsd:string) AnnotationAssertion(rdfs:label "logopenic progressive aphasia"^^xsd:string) SubClassOf( ) # Class: (progressive non-fluent aphasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32047619/"^^xsd:string) "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:46:15Z"^^xsd:string) AnnotationAssertion( "DOID:9003457"^^xsd:string) AnnotationAssertion( "GARD:10793"^^xsd:string) AnnotationAssertion( "MESH:D057178"^^xsd:string) AnnotationAssertion( "ORDO:100070"^^xsd:string) AnnotationAssertion( "Agramatic variant of primary progressive aphasia"^^xsd:string) AnnotationAssertion( "Non fluent Primary Progressive Aphasia"^^xsd:string) AnnotationAssertion( "PPA Syndrome"^^xsd:string) AnnotationAssertion( "PPA Syndromes"^^xsd:string) AnnotationAssertion( "Primary Progressive Nonfluent Aphasia"^^xsd:string) AnnotationAssertion( "Progressive Nonfluent Aphasia"^^xsd:string) AnnotationAssertion( "Progressive Nonfluent Aphasias"^^xsd:string) AnnotationAssertion( "nonfluent agrammatic PPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081390"^^xsd:string) AnnotationAssertion(rdfs:label "progressive non-fluent aphasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (semantic dementia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28019640/"^^xsd:string) "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:48:10Z"^^xsd:string) AnnotationAssertion( "GARD:10792"^^xsd:string) AnnotationAssertion( "ORDO:100069"^^xsd:string) AnnotationAssertion( "semantic variant PPA"^^xsd:string) AnnotationAssertion( "semantic variant of primary progressive aphasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081391"^^xsd:string) AnnotationAssertion(rdfs:label "semantic dementia"^^xsd:string) SubClassOf( ) # Class: (corticobasal degeneration syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34316603/"^^xsd:string) "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:50:11Z"^^xsd:string) AnnotationAssertion( "ORDO:454887"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081392"^^xsd:string) AnnotationAssertion(rdfs:label "corticobasal degeneration syndrome"^^xsd:string) SubClassOf( ) # Class: (organophosphate-induced delayed polyneuropathy) AnnotationAssertion(Annotation( "https://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16042503"^^xsd:string) "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:51:28Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081393"^^xsd:string) AnnotationAssertion(rdfs:label "organophosphate-induced delayed polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (Caroli syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29643536/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30020679/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK513307/"^^xsd:string) "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-11-30T15:52:46Z"^^xsd:string) AnnotationAssertion( "GARD:6002"^^xsd:string) AnnotationAssertion( "Caroli's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081394"^^xsd:string) AnnotationAssertion(rdfs:label "Caroli syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Harel-Yoon syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27640307/"^^xsd:string) "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T21:04:43Z"^^xsd:string) AnnotationAssertion( "DOID:9006186"^^xsd:string) AnnotationAssertion( "MIM:617183"^^xsd:string) AnnotationAssertion( "ORDO:496790"^^xsd:string) AnnotationAssertion( "HAYOS"^^xsd:string) AnnotationAssertion( "Ocular anomalies-axonal neuropathy-developmental delay syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081395"^^xsd:string) AnnotationAssertion(rdfs:label "Harel-Yoon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28549128/"^^xsd:string) "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T21:06:57Z"^^xsd:string) AnnotationAssertion( "DOID:9000870"^^xsd:string) AnnotationAssertion( "MIM:618810"^^xsd:string) AnnotationAssertion( "ORDO:615983"^^xsd:string) AnnotationAssertion( "PHRINL"^^xsd:string) AnnotationAssertion( "PHRINL SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081396"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vissers-Bodmer syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32553196/"^^xsd:string) "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T21:09:50Z"^^xsd:string) AnnotationAssertion( "DOID:9004008"^^xsd:string) AnnotationAssertion( "CNOT1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619033"^^xsd:string) AnnotationAssertion( "VIBOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081397"^^xsd:string) AnnotationAssertion(rdfs:label "Vissers-Bodmer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31006510/"^^xsd:string) "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-12-20T21:11:44Z"^^xsd:string) AnnotationAssertion( "DOID:9004991"^^xsd:string) AnnotationAssertion( "CNOT1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:618500"^^xsd:string) AnnotationAssertion( "HPE12"^^xsd:string) AnnotationAssertion( "holoprosencephaly 12, with or without pancreatic agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081398"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31978608/"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:34:23Z"^^xsd:string) AnnotationAssertion( "DOID:9000162"^^xsd:string) AnnotationAssertion( "MIM:620080"^^xsd:string) AnnotationAssertion( "DHMN10"^^xsd:string) AnnotationAssertion( "Distal Hereditary Motor Neuronopathy Type 10"^^xsd:string) AnnotationAssertion( "EMILIN-1-RELATED DISEASE"^^xsd:string) AnnotationAssertion( "HMN10"^^xsd:string) AnnotationAssertion( "HMND10"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type X"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy 10"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081399"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 10"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33206935/"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:37:21Z"^^xsd:string) AnnotationAssertion( "DOID:9005325"^^xsd:string) AnnotationAssertion( "MIM:620528"^^xsd:string) AnnotationAssertion( "DHMN11"^^xsd:string) AnnotationAssertion( "HMND11"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy 11"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081400"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 11"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20806400/"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:43:35Z"^^xsd:string) AnnotationAssertion( "DOID:9006235"^^xsd:string) AnnotationAssertion( "MIM:619112"^^xsd:string) AnnotationAssertion( "DHMN VC"^^xsd:string) AnnotationAssertion( "DHMN5C"^^xsd:string) AnnotationAssertion( "DSMA5C"^^xsd:string) AnnotationAssertion( "DSMAVC"^^xsd:string) AnnotationAssertion( "Distal Hereditary Motor Neuronopathy Type 5C"^^xsd:string) AnnotationAssertion( "HMN5C"^^xsd:string) AnnotationAssertion( "HMND13"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type VC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type VC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type VC"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type 5C"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type VC"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, Harding type VC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081401"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 13"^^xsd:string) SubClassOf( ) # Class: (sarcoma with BCOR genetic alterations) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35730501/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:46:26Z"^^xsd:string) AnnotationAssertion( "ICDO:9368/3"^^xsd:string) AnnotationAssertion( "NCI:C178465"^^xsd:string) AnnotationAssertion( "BCOR-Rearranged Sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081402"^^xsd:string) AnnotationAssertion(rdfs:label "sarcoma with BCOR genetic alterations"^^xsd:string) SubClassOf( ) # Class: (BCOR ITD sarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:47:23Z"^^xsd:string) AnnotationAssertion( "NCI:C178468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081403"^^xsd:string) AnnotationAssertion(rdfs:label "BCOR ITD sarcoma"^^xsd:string) SubClassOf( ) # Class: (BCOR-CCNB3 sarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:48:21Z"^^xsd:string) AnnotationAssertion( "NCI:C178466"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081404"^^xsd:string) AnnotationAssertion(rdfs:label "BCOR-CCNB3 sarcoma"^^xsd:string) SubClassOf( ) # Class: (childhood sarcoma with BCOR genetic alterations) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A sarcoma with BCOR genetic alterations that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:49:10Z"^^xsd:string) AnnotationAssertion( "NCI:C189007"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081405"^^xsd:string) AnnotationAssertion(rdfs:label "childhood sarcoma with BCOR genetic alterations"^^xsd:string) SubClassOf( ) # Class: (round cell sarcoma with EWSR1-non-ETS fusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35430129/"^^xsd:string) "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:49:53Z"^^xsd:string) AnnotationAssertion( "ICDO:9366/3"^^xsd:string) AnnotationAssertion( "NCI:C178459"^^xsd:string) AnnotationAssertion( "Ewing-Like Sarcoma or Round Cell Sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081406"^^xsd:string) AnnotationAssertion(rdfs:label "round cell sarcoma with EWSR1-non-ETS fusion"^^xsd:string) SubClassOf( ) # Class: (childhood round cell sarcoma with EWSR1-non-ETS fusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:50:50Z"^^xsd:string) AnnotationAssertion( "NCI:C189003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081407"^^xsd:string) AnnotationAssertion(rdfs:label "childhood round cell sarcoma with EWSR1-non-ETS fusion"^^xsd:string) SubClassOf( ) # Class: (round cell sarcoma with EWSR1-NFATC2 gene fusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35430129/"^^xsd:string) "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:51:39Z"^^xsd:string) AnnotationAssertion( "NCI:C178460"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081408"^^xsd:string) AnnotationAssertion(rdfs:label "round cell sarcoma with EWSR1-NFATC2 gene fusion"^^xsd:string) SubClassOf( ) # Class: (round cell sarcoma with EWSR1-PATZ1 gene fusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30379650/"^^xsd:string) "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:52:38Z"^^xsd:string) AnnotationAssertion( "NCI:C178461"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081409"^^xsd:string) AnnotationAssertion(rdfs:label "round cell sarcoma with EWSR1-PATZ1 gene fusion"^^xsd:string) SubClassOf( ) # Class: (round cell sarcoma with FUS-NFATC2 gene fusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31078563/"^^xsd:string) "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:53:27Z"^^xsd:string) AnnotationAssertion( "NCI:C178462"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081410"^^xsd:string) AnnotationAssertion(rdfs:label "round cell sarcoma with FUS-NFATC2 gene fusion"^^xsd:string) SubClassOf( ) # Class: (B acute lymphoblastic leukemia with PAX5 P80R mutation) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30510083/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32463891/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36241730/"^^xsd:string) "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:54:15Z"^^xsd:string) AnnotationAssertion( "NCI:C199260"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081411"^^xsd:string) AnnotationAssertion(rdfs:label "B acute lymphoblastic leukemia with PAX5 P80R mutation"^^xsd:string) SubClassOf( ) # Class: (B acute lymphoblastic leukemia with DUX4 rearrangement) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36602820/"^^xsd:string) "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:55:11Z"^^xsd:string) AnnotationAssertion( "NCI:C199232"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081412"^^xsd:string) AnnotationAssertion(rdfs:label "B acute lymphoblastic leukemia with DUX4 rearrangement"^^xsd:string) SubClassOf( ) # Class: (renal cell carcinoma with MiT translocations) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25758327/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31382581/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36672892/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37060647/"^^xsd:string) "A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:56:04Z"^^xsd:string) AnnotationAssertion( "ICDO:8311/3"^^xsd:string) AnnotationAssertion( "NCI:C154494"^^xsd:string) AnnotationAssertion( "MiT Family Translocation-Associated Renal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "MiT family translocation renal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081413"^^xsd:string) AnnotationAssertion(rdfs:label "renal cell carcinoma with MiT translocations"^^xsd:string) SubClassOf( ) # Class: (TFEB-rearranged renal cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36830782/"^^xsd:string) "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:57:03Z"^^xsd:string) AnnotationAssertion( "NCI:C37210"^^xsd:string) AnnotationAssertion( "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB"^^xsd:string) AnnotationAssertion( "t(6;11) Renal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "t(6;11);(p21;q12) Renal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081414"^^xsd:string) AnnotationAssertion(rdfs:label "TFEB-rearranged renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (TFE3-rearranged renal cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/38104891/"^^xsd:string) "A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:57:55Z"^^xsd:string) AnnotationAssertion( "NCI:C27891"^^xsd:string) AnnotationAssertion( "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions"^^xsd:string) AnnotationAssertion( "Xp11 Translocation Renal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081415"^^xsd:string) AnnotationAssertion(rdfs:label "TFE3-rearranged renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood renal cell carcinoma with MiT translocations) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37528880/"^^xsd:string) "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:58:44Z"^^xsd:string) AnnotationAssertion( "NCI:C189242"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081416"^^xsd:string) AnnotationAssertion(rdfs:label "childhood renal cell carcinoma with MiT translocations"^^xsd:string) SubClassOf( ) # Class: (poorly differentiated chordoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29483606/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34482218/"^^xsd:string) "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T11:59:30Z"^^xsd:string) AnnotationAssertion( "ICDO:9370/3"^^xsd:string) AnnotationAssertion( "NCI:C177898"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081417"^^xsd:string) AnnotationAssertion(rdfs:label "poorly differentiated chordoma"^^xsd:string) SubClassOf( ) # Class: (anaplastic sarcoma of the kidney) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17895746/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27006300/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28862265/"^^xsd:string) "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:00:28Z"^^xsd:string) AnnotationAssertion( "ICDO:8802/3"^^xsd:string) AnnotationAssertion( "NCI:C154496"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081418"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic sarcoma of the kidney"^^xsd:string) SubClassOf( ) # Class: (childhood-onset dystonia with optic atrophy and basal ganglia abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27817865/"^^xsd:string) "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:01:39Z"^^xsd:string) AnnotationAssertion( "DOID:9003458"^^xsd:string) AnnotationAssertion( "GARD:13488"^^xsd:string) AnnotationAssertion( "MIM:617282"^^xsd:string) AnnotationAssertion( "ORDO:508093"^^xsd:string) AnnotationAssertion( "DYSTONIA 29, CHILDHOOD-ONSET"^^xsd:string) AnnotationAssertion( "DYT29"^^xsd:string) AnnotationAssertion( "DYTOABG"^^xsd:string) AnnotationAssertion( "MECR-related neurologic disorder"^^xsd:string) AnnotationAssertion( "MEPAN syndrome"^^xsd:string) AnnotationAssertion( "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081419"^^xsd:string) AnnotationAssertion(rdfs:label "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial focal epilepsy with variable foci) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK385626/"^^xsd:string) "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:04:22Z"^^xsd:string) AnnotationAssertion( "GARD:13295"^^xsd:string) AnnotationAssertion( "MIM:PS604364"^^xsd:string) AnnotationAssertion( "ORDO:98820"^^xsd:string) AnnotationAssertion( "DEPDC5-related epilepsy"^^xsd:string) AnnotationAssertion( "FFEVF"^^xsd:string) AnnotationAssertion( "FPEVF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081420"^^xsd:string) AnnotationAssertion(rdfs:label "familial focal epilepsy with variable foci"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial focal epilepsy with variable foci 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32848577/"^^xsd:string) "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:06:30Z"^^xsd:string) AnnotationAssertion( "DOID:9001601"^^xsd:string) AnnotationAssertion( "MIM:604364"^^xsd:string) AnnotationAssertion( "DEPDC5-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C565785"^^xsd:string) AnnotationAssertion( "NCI:C161005"^^xsd:string) AnnotationAssertion( "FFEVF1"^^xsd:string) AnnotationAssertion( "partial epilepsy with variable foci"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081421"^^xsd:string) AnnotationAssertion(rdfs:label "familial focal epilepsy with variable foci 1"^^xsd:string) SubClassOf( ) # Class: (familial focal epilepsy with variable foci 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26505888/"^^xsd:string) "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:06:44Z"^^xsd:string) AnnotationAssertion( "DOID:9000342"^^xsd:string) AnnotationAssertion( "MIM:617116"^^xsd:string) AnnotationAssertion( "FFEVF2"^^xsd:string) AnnotationAssertion( "NPRL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081422"^^xsd:string) AnnotationAssertion(rdfs:label "familial focal epilepsy with variable foci 2"^^xsd:string) SubClassOf( ) # Class: (familial focal epilepsy with variable foci 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26505888/"^^xsd:string) "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:06:53Z"^^xsd:string) AnnotationAssertion( "DOID:9006565"^^xsd:string) AnnotationAssertion( "MIM:617118"^^xsd:string) AnnotationAssertion( "FFEVF3"^^xsd:string) AnnotationAssertion( "NPRL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081423"^^xsd:string) AnnotationAssertion(rdfs:label "familial focal epilepsy with variable foci 3"^^xsd:string) SubClassOf( ) # Class: (familial focal epilepsy with variable foci 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28235671/"^^xsd:string) "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:07:18Z"^^xsd:string) AnnotationAssertion( "DOID:9009166"^^xsd:string) AnnotationAssertion( "SCN3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCN3A-related disorder"^^xsd:string) AnnotationAssertion( "MIM:617935"^^xsd:string) AnnotationAssertion( "FFEVF4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081424"^^xsd:string) AnnotationAssertion(rdfs:label "familial focal epilepsy with variable foci 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31872057/"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:16:45Z"^^xsd:string) AnnotationAssertion( "DOID:9003231"^^xsd:string) AnnotationAssertion( "MIM:620011"^^xsd:string) AnnotationAssertion( "DSMA6"^^xsd:string) AnnotationAssertion( "Distal Spinal Muscular Atrophy Type 6"^^xsd:string) AnnotationAssertion( "HMNR6"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 6"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, autosomal recessive, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081425"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33459760/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33559681/"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:18:54Z"^^xsd:string) AnnotationAssertion( "DOID:9000655"^^xsd:string) AnnotationAssertion( "MIM:619216"^^xsd:string) AnnotationAssertion( "HMNMYO"^^xsd:string) AnnotationAssertion( "HMNR7"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 7"^^xsd:string) AnnotationAssertion( "hereditary motor neuropathy with myopathic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081426"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32367058/"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:20:36Z"^^xsd:string) AnnotationAssertion( "DOID:0080025"^^xsd:string) AnnotationAssertion( "DOID:0081376"^^xsd:string) AnnotationAssertion( "DOID:9006739"^^xsd:string) AnnotationAssertion( "MIM:618912"^^xsd:string) AnnotationAssertion( "HMNR8"^^xsd:string) AnnotationAssertion( "SORDD"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, autosomal recessive 8"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 8"^^xsd:string) AnnotationAssertion( "sorbitol dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "sorbitol dehydrogenase deficiency with peripheral neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081427"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36454683/"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:23:58Z"^^xsd:string) AnnotationAssertion( "DOID:9006160"^^xsd:string) AnnotationAssertion( "MIM:620402"^^xsd:string) AnnotationAssertion( "HMNR9"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081428"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 9"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35641352/"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-01-31T12:25:24Z"^^xsd:string) AnnotationAssertion( "DOID:9003914"^^xsd:string) AnnotationAssertion( "MIM:620542"^^xsd:string) AnnotationAssertion( "HMNR10"^^xsd:string) AnnotationAssertion( "VRK1-related motor neuron disease"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081429"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 10"^^xsd:string) SubClassOf( ) # Class: (intellectual developmental disorder with autistic features and language delay, with or without seizures) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31616000/"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T17:17:30Z"^^xsd:string) AnnotationAssertion( "DOID:9008432"^^xsd:string) AnnotationAssertion( "MIM:618906"^^xsd:string) AnnotationAssertion( "IDDALDS"^^xsd:string) AnnotationAssertion( "TANC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081430"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with autistic features and language delay, with or without seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly, short stature, and limb abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28191891/"^^xsd:string) "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:33:01Z"^^xsd:string) AnnotationAssertion( "DOID:9002832"^^xsd:string) AnnotationAssertion( "DONSON-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617604"^^xsd:string) AnnotationAssertion( "ORDO:572761"^^xsd:string) AnnotationAssertion( "DONSON-related microcephaly-short stature-limb abnormalities spectrum"^^xsd:string) AnnotationAssertion( "MISSLA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081431"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly, short stature, and limb abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly-micromelia syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28630177/"^^xsd:string) "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:35:49Z"^^xsd:string) AnnotationAssertion( "DOID:9002621"^^xsd:string) AnnotationAssertion( "MIM:251230"^^xsd:string) AnnotationAssertion( "DONSON-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565382"^^xsd:string) AnnotationAssertion( "ORDO:572768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081432"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly-micromelia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 4B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:38:10Z"^^xsd:string) AnnotationAssertion( "DOID:9002864"^^xsd:string) AnnotationAssertion( "MIM:614863"^^xsd:string) AnnotationAssertion( "PBD4B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081433"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 4B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 5B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:43:30Z"^^xsd:string) AnnotationAssertion( "DOID:9008800"^^xsd:string) AnnotationAssertion( "PEX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614867"^^xsd:string) AnnotationAssertion( "PBD5B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081434"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 5B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 6B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:44:49Z"^^xsd:string) AnnotationAssertion( "DOID:9006522"^^xsd:string) AnnotationAssertion( "MIM:614871"^^xsd:string) AnnotationAssertion( "PBD6B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081435"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 6B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 7B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:45:59Z"^^xsd:string) AnnotationAssertion( "DOID:9002413"^^xsd:string) AnnotationAssertion( "MIM:614873"^^xsd:string) AnnotationAssertion( "NCI:C155761"^^xsd:string) AnnotationAssertion( "PBD7B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081436"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 7B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 8B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:47:17Z"^^xsd:string) AnnotationAssertion( "DOID:9004875"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT"^^xsd:string) AnnotationAssertion( "MIM:614877"^^xsd:string) AnnotationAssertion( "PBD8B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081437"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 8B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 9B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12325024/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:49:14Z"^^xsd:string) AnnotationAssertion( "DOID:9006365"^^xsd:string) AnnotationAssertion( "MIM:614879"^^xsd:string) AnnotationAssertion( "MESH:C567603"^^xsd:string) AnnotationAssertion( "Adult Refsum Disease, 2"^^xsd:string) AnnotationAssertion( "PBD9B"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081438"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 9B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 11B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:51:44Z"^^xsd:string) AnnotationAssertion( "DOID:9005083"^^xsd:string) AnnotationAssertion( "MIM:614885"^^xsd:string) AnnotationAssertion( "PBD11B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081439"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 11B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome biogenesis disorder 10B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22871920/"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:53:08Z"^^xsd:string) AnnotationAssertion( "DOID:9006868"^^xsd:string) AnnotationAssertion( "PEX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617370"^^xsd:string) AnnotationAssertion( "PBD10B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081440"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome biogenesis disorder 10B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nicolaides-Baraitser syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19606471/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK321516/"^^xsd:string) "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:54:35Z"^^xsd:string) AnnotationAssertion( "DOID:9003531"^^xsd:string) AnnotationAssertion( "SMARCA2-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "SMARCA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:270"^^xsd:string) AnnotationAssertion( "MESH:C536116"^^xsd:string) AnnotationAssertion( "MIM:601358"^^xsd:string) AnnotationAssertion( "ORDO:3051"^^xsd:string) AnnotationAssertion( "Intellectual disability-sparse hair-brachydactyly syndrome"^^xsd:string) AnnotationAssertion( "NBS"^^xsd:string) AnnotationAssertion( "NCBRS"^^xsd:string) AnnotationAssertion( "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME"^^xsd:string) AnnotationAssertion( "sparse hair and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081441"^^xsd:string) AnnotationAssertion(rdfs:label "Nicolaides-Baraitser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blepharophimosis-impaired intellectual development syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32694869/"^^xsd:string) "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:56:28Z"^^xsd:string) AnnotationAssertion( "DOID:9008618"^^xsd:string) AnnotationAssertion( "SMARCA2-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "SMARCA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619293"^^xsd:string) AnnotationAssertion( "ORDO:637013"^^xsd:string) AnnotationAssertion( "BIS"^^xsd:string) AnnotationAssertion( "SMARCA2-related blepharophimosis-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081442"^^xsd:string) AnnotationAssertion(rdfs:label "blepharophimosis-impaired intellectual development syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stolerman neurodevelopmental syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31124279/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37196654/"^^xsd:string) "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:58:03Z"^^xsd:string) AnnotationAssertion( "DOID:9007117"^^xsd:string) AnnotationAssertion( "MIM:618505"^^xsd:string) AnnotationAssertion( "KDM6B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDCFSA"^^xsd:string) AnnotationAssertion( "NEDSST"^^xsd:string) AnnotationAssertion( "Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081443"^^xsd:string) AnnotationAssertion(rdfs:label "Stolerman neurodevelopmental syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with poor growth and behavioral abnormalities) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34379057/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36604604/"^^xsd:string) "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-01T11:59:56Z"^^xsd:string) AnnotationAssertion( "DOID:9000845"^^xsd:string) AnnotationAssertion( "MIM:620242"^^xsd:string) AnnotationAssertion( "NEDGBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081444"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with poor growth and behavioral abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sickle cell disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/sickle-cell-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1377/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK482164/"^^xsd:string) "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:29:38Z"^^xsd:string) AnnotationAssertion( "MIM:603903"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081445"^^xsd:string) AnnotationAssertion(rdfs:label "sickle cell disease"^^xsd:string) SubClassOf( ) # Class: (dimethylglycine dehydrogenase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10102904/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11231903/"^^xsd:string) "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:37:30Z"^^xsd:string) AnnotationAssertion( "DOID:9005574"^^xsd:string) AnnotationAssertion( "MESH:C565278"^^xsd:string) AnnotationAssertion( "MIM:605850"^^xsd:string) AnnotationAssertion( "MONDO:0011610"^^xsd:string) AnnotationAssertion( "ORDO:243343"^^xsd:string) AnnotationAssertion( "DMG dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "DMGDH Deficiency"^^xsd:string) AnnotationAssertion( "DMGDHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081446"^^xsd:string) AnnotationAssertion(rdfs:label "dimethylglycine dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26720460/"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:46:36Z"^^xsd:string) AnnotationAssertion( "DOID:9005737"^^xsd:string) AnnotationAssertion( "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT"^^xsd:string) AnnotationAssertion( "MIM:616502"^^xsd:string) AnnotationAssertion( "MONDO:0014669"^^xsd:string) AnnotationAssertion( "CORD21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081447"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33077892/"^^xsd:string) "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:49:44Z"^^xsd:string) AnnotationAssertion( "DOID:9007876"^^xsd:string) AnnotationAssertion( "MIM:619531"^^xsd:string) AnnotationAssertion( "MONDO:0030440"^^xsd:string) AnnotationAssertion( "CORD22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081448"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35947183/"^^xsd:string) "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:52:22Z"^^xsd:string) AnnotationAssertion( "DOID:9005636"^^xsd:string) AnnotationAssertion( "UNC119-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620342"^^xsd:string) AnnotationAssertion( "MONDO:0957240"^^xsd:string) AnnotationAssertion( "CORD24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081449"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperimmunoglobulinemia D periodic fever syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22041426/"^^xsd:string) "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T11:55:13Z"^^xsd:string) AnnotationAssertion( "GARD:2788"^^xsd:string) AnnotationAssertion( "MIM:260920"^^xsd:string) AnnotationAssertion( "MONDO:0009849"^^xsd:string) AnnotationAssertion( "ORDO:343"^^xsd:string) AnnotationAssertion( "hyper IgD syndrome"^^xsd:string) AnnotationAssertion( "hyper IgD syndromes"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulinemia D"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulinemia D and periodic fever syndrome"^^xsd:string) AnnotationAssertion( "periodic fever, Dutch type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081450"^^xsd:string) AnnotationAssertion(rdfs:label "hyperimmunoglobulinemia D periodic fever syndrome"^^xsd:string) SubClassOf( ) # Class: (PFAPA syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356195/"^^xsd:string) "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-05-01T12:04:04Z"^^xsd:string) AnnotationAssertion( "DOID:9007906"^^xsd:string) AnnotationAssertion( "GARD:5657"^^xsd:string) AnnotationAssertion( "MONDO:0018540"^^xsd:string) AnnotationAssertion( "ORDO:42642"^^xsd:string) AnnotationAssertion( "Marshall syndrome with periodic fever"^^xsd:string) AnnotationAssertion( "PFAPA"^^xsd:string) AnnotationAssertion( "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis"^^xsd:string) AnnotationAssertion( "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis syndrome"^^xsd:string) AnnotationAssertion( "Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome"^^xsd:string) AnnotationAssertion( "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"^^xsd:string) AnnotationAssertion( "periodic fever, aphthous stomatitis, pharyngitis and adenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081451"^^xsd:string) AnnotationAssertion(rdfs:label "PFAPA syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (large B-cell lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37190213/"^^xsd:string) "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-04-30T16:42:46Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081452"^^xsd:string) AnnotationAssertion(rdfs:label "large B-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (Dent disease 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32248351/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK99494/"^^xsd:string) "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T11:20:10Z"^^xsd:string) AnnotationAssertion( "DOID:9008579"^^xsd:string) AnnotationAssertion( "MESH:C538212"^^xsd:string) AnnotationAssertion( "MIM:300009"^^xsd:string) AnnotationAssertion( "MONDO:0010225"^^xsd:string) AnnotationAssertion( "ORDO:93622"^^xsd:string) AnnotationAssertion( "DENT1"^^xsd:string) AnnotationAssertion( "Hypercalciuric Urolithiasis, X-Linked"^^xsd:string) AnnotationAssertion( "NPHL2"^^xsd:string) AnnotationAssertion( "Nephrolithiasis 2"^^xsd:string) AnnotationAssertion( "Nephrolithiasis, Hypercalciuric, X-Linked"^^xsd:string) AnnotationAssertion( "Nephrolithiasis, hypercalciuria, x-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081453"^^xsd:string) AnnotationAssertion(rdfs:label "Dent disease 1"^^xsd:string) SubClassOf( ) # Class: (Dent disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15627218/"^^xsd:string) "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-06-21T12:25:23Z"^^xsd:string) AnnotationAssertion( "DOID:9007045"^^xsd:string) AnnotationAssertion( "MESH:C564487"^^xsd:string) AnnotationAssertion( "MIM:300555"^^xsd:string) AnnotationAssertion( "MONDO:0010359"^^xsd:string) AnnotationAssertion( "DENT2"^^xsd:string) AnnotationAssertion( "dent disease type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081454"^^xsd:string) AnnotationAssertion(rdfs:label "Dent disease 2"^^xsd:string) SubClassOf( ) # Class: (auto-brewery syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Auto-brewery_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/38246992/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK513346/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/"^^xsd:string) "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:22:28Z"^^xsd:string) AnnotationAssertion( "gut fermentation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081455"^^xsd:string) AnnotationAssertion(rdfs:label "auto-brewery syndrome"^^xsd:string) SubClassOf( ) # Class: (bladder fermentation syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/38246992/"^^xsd:string) "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:24:48Z"^^xsd:string) AnnotationAssertion( "urinary auto-brewery syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081456"^^xsd:string) AnnotationAssertion(rdfs:label "bladder fermentation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrathyroid thymic carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37925863/"^^xsd:string) "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:28:21Z"^^xsd:string) AnnotationAssertion( "ICDO:8589/3"^^xsd:string) AnnotationAssertion( "NCI:C46106"^^xsd:string) AnnotationAssertion( "CASTLE"^^xsd:string) AnnotationAssertion( "Carcinoma showing thymus-like differentiation"^^xsd:string) AnnotationAssertion( "Carcinoma showing thymus-like element"^^xsd:string) AnnotationAssertion( "Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081457"^^xsd:string) AnnotationAssertion(rdfs:label "intrathyroid thymic carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland cribriform morular carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35882545/"^^xsd:string) "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:30:19Z"^^xsd:string) AnnotationAssertion( "NCI:C126408"^^xsd:string) AnnotationAssertion( "Cribriform-Morular Variant Thyroid Gland Papillary Cancer"^^xsd:string) AnnotationAssertion( "Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081458"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland cribriform morular carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland mixed medullary and follicular cell-derived carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20574174/"^^xsd:string) "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:33:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000589"^^xsd:string) AnnotationAssertion( "NCI:C46104"^^xsd:string) AnnotationAssertion( "mixed medullary and follicular cell-derived carcinomas"^^xsd:string) AnnotationAssertion( "thyroid gland mixed medullary and follicular cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081459"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland mixed medullary and follicular cell-derived carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland mucinous carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24466763/"^^xsd:string) "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:34:11Z"^^xsd:string) AnnotationAssertion( "NCI:C156267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081460"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland spindle epithelial tumor with thymus-like elements) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21085772/"^^xsd:string) "A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-07-01T09:36:14Z"^^xsd:string) AnnotationAssertion( "NCI:C46105"^^xsd:string) AnnotationAssertion( "SETTLE"^^xsd:string) AnnotationAssertion( "Spindle Epithelial Tumor with Thymus-Like Elements"^^xsd:string) AnnotationAssertion( "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0081461"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland spindle epithelial tumor with thymus-like elements"^^xsd:string) SubClassOf( ) # Class: (Fraser syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12766769"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16894541"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22510445"^^xsd:string) "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS219000"^^xsd:string) AnnotationAssertion( "GARD:6465"^^xsd:string) AnnotationAssertion( "MESH:D058497"^^xsd:string) AnnotationAssertion( "NCI:C118436"^^xsd:string) AnnotationAssertion( "ORDO:2052"^^xsd:string) AnnotationAssertion( "cryptophthalmos with other malformations"^^xsd:string) AnnotationAssertion( "cryptophthalmos-syndactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090001"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tietz syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/tietz-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13985019"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8589691"^^xsd:string) "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103500"^^xsd:string) AnnotationAssertion( "GARD:7772"^^xsd:string) AnnotationAssertion( "MESH:C536919"^^xsd:string) AnnotationAssertion( "ORDO:42665"^^xsd:string) AnnotationAssertion( "TADS"^^xsd:string) AnnotationAssertion( "Tietz albinism-deafness syndrome"^^xsd:string) AnnotationAssertion( "albinism and complete nerve deafness"^^xsd:string) AnnotationAssertion( "albinism-deafness of Tietz"^^xsd:string) AnnotationAssertion( "hypopigmentation-deafness of Tietz"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090002"^^xsd:string) AnnotationAssertion(rdfs:label "Tietz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (agenesis of the corpus callosum with peripheral neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12368912"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12838516"^^xsd:string) "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060600"^^xsd:string) AnnotationAssertion( "MIM:218000"^^xsd:string) AnnotationAssertion( "MESH:C536446"^^xsd:string) AnnotationAssertion( "ORDO:1496"^^xsd:string) AnnotationAssertion( "ACCPN"^^xsd:string) AnnotationAssertion( "Agenesis of Corpus Callosum with Peripheral Neuropathy"^^xsd:string) AnnotationAssertion( "Agenesis of Corpus Callosum with Polyneuropathy"^^xsd:string) AnnotationAssertion( "Andermann syndrome"^^xsd:string) AnnotationAssertion( "Charlevoix disease"^^xsd:string) AnnotationAssertion( "Corpus Callosum Agenesis Neuronopathy"^^xsd:string) AnnotationAssertion( "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"^^xsd:string) AnnotationAssertion( "agenesis of corpus callosum with neuronopathy"^^xsd:string) AnnotationAssertion( "corpus callosum agenesis-neuronopathy syndrome"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy with agenesis of corpus callosum"^^xsd:string) AnnotationAssertion( "sensorimotor polyneuropathy with or without agenesis of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090003"^^xsd:string) AnnotationAssertion(rdfs:label "agenesis of the corpus callosum with peripheral neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (progressive pseudorheumatoid arthropathy of childhood) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15215498"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15601861"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6807993"^^xsd:string) "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208230"^^xsd:string) AnnotationAssertion( "MESH:C535387"^^xsd:string) AnnotationAssertion( "NCI:C202612"^^xsd:string) AnnotationAssertion( "ORDO:1159"^^xsd:string) AnnotationAssertion( "PPAC"^^xsd:string) AnnotationAssertion( "PPD"^^xsd:string) AnnotationAssertion( "SEDT-PA"^^xsd:string) AnnotationAssertion( "progressive pseudorheumatoid dysplasia"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia tarda with progressive arthropathy"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090004"^^xsd:string) AnnotationAssertion(rdfs:label "progressive pseudorheumatoid arthropathy of childhood"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schwartz-Jampel syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11941538"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1552548"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18647752"^^xsd:string) "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000985"^^xsd:string) AnnotationAssertion( "MESH:C565452"^^xsd:string) AnnotationAssertion( "MIM:245160"^^xsd:string) AnnotationAssertion( "HSPG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HSPG2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:250"^^xsd:string) AnnotationAssertion( "MIM:255800"^^xsd:string) AnnotationAssertion( "NCI:C35008"^^xsd:string) AnnotationAssertion( "ORDO:800"^^xsd:string) AnnotationAssertion( "Aberfeld syndrome"^^xsd:string) AnnotationAssertion( "Burton skeletal dysplasia"^^xsd:string) AnnotationAssertion( "Burton syndrome"^^xsd:string) AnnotationAssertion( "Catel-Hempel syndrome"^^xsd:string) AnnotationAssertion( "Catel-Hempel type dysostosis enchondralis metaepiphysaria"^^xsd:string) AnnotationAssertion( "Kniest-like dysplasia with pursed lips and ectopia lentis"^^xsd:string) AnnotationAssertion( "SJS"^^xsd:string) AnnotationAssertion( "SJS1"^^xsd:string) AnnotationAssertion( "Schwartz Jampel syndrome"^^xsd:string) AnnotationAssertion( "Schwartz-Jampel syndrome, type 1"^^xsd:string) AnnotationAssertion( "Schwartz-Jampel-Aberfeld syndrome"^^xsd:string) AnnotationAssertion( "myotonic chondrodystrophy"^^xsd:string) AnnotationAssertion( "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies"^^xsd:string) AnnotationAssertion( "osteochondromuscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN"^^xsd:string) AnnotationAssertion( "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN"^^xsd:string) AnnotationAssertion( "DOID:0090005"^^xsd:string) AnnotationAssertion(rdfs:label "Schwartz-Jampel syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal coloboma syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10466411"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7795640"^^xsd:string) "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:120330"^^xsd:string) AnnotationAssertion( "PAX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4106"^^xsd:string) AnnotationAssertion( "MESH:C537168"^^xsd:string) AnnotationAssertion( "ORDO:1475"^^xsd:string) AnnotationAssertion( "CAKUT with or without ocular abnormalities"^^xsd:string) AnnotationAssertion( "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES"^^xsd:string) AnnotationAssertion( "Coloboma-Ureteral-Renal Syndrome"^^xsd:string) AnnotationAssertion( "Optic Nerve Coloboma Renal Syndrome"^^xsd:string) AnnotationAssertion( "Optic coloboma, vesicoureteral reflux, and renal anomalies"^^xsd:string) AnnotationAssertion( "Optic nerve coloboma with renal disease"^^xsd:string) AnnotationAssertion( "PAPRS"^^xsd:string) AnnotationAssertion( "Papillorenal syndrome"^^xsd:string) AnnotationAssertion( "coloboma of optic nerve with renal disease"^^xsd:string) AnnotationAssertion( "isolated renal hypoplasia"^^xsd:string) AnnotationAssertion( "papillo-renal syndrome, optic nerve coloboma with renal disease"^^xsd:string) AnnotationAssertion( "renal-coloboma syndrome with macular abnormalities"^^xsd:string) AnnotationAssertion( "Papillorenal syndrome with macular abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090006"^^xsd:string) AnnotationAssertion(rdfs:label "renal coloboma syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency-centromeric instability-facial anomalies syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17893117"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string) "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537362"^^xsd:string) AnnotationAssertion( "MIM:PS242860"^^xsd:string) AnnotationAssertion( "ORDO:2268"^^xsd:string) AnnotationAssertion( "ICF syndrome"^^xsd:string) AnnotationAssertion( "centromeric instability, immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "immunodeficiency syndrome, variable"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090007"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency-centromeric instability-facial anomalies syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10647011"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17893117"^^xsd:string) "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242860"^^xsd:string) AnnotationAssertion( "NCI:C156430"^^xsd:string) AnnotationAssertion( "CENTROMERIC INSTABILITY OF CHROMOSOMES 1,9 AND 16 AND IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "CIID"^^xsd:string) AnnotationAssertion( "ICF syndrome 1"^^xsd:string) AnnotationAssertion( "ICF1"^^xsd:string) AnnotationAssertion( "IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090008"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 1"^^xsd:string) SubClassOf( ) # Class: (immunodeficiency-centromeric instability-facial anomalies syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21596365"^^xsd:string) "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614069"^^xsd:string) AnnotationAssertion( "ICF syndrome 2"^^xsd:string) AnnotationAssertion( "ICF2"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME TYPE 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090009"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 2"^^xsd:string) SubClassOf( ) # Class: (immunodeficiency-centromeric instability-facial anomalies syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string) "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616910"^^xsd:string) AnnotationAssertion( "ICF syndrome 3"^^xsd:string) AnnotationAssertion( "ICF3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090010"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 3"^^xsd:string) SubClassOf( ) # Class: (immunodeficiency-centromeric instability-facial anomalies syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26216346"^^xsd:string) "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D84.8"^^xsd:string) AnnotationAssertion( "MIM:616911"^^xsd:string) AnnotationAssertion( "ICF syndrome 4"^^xsd:string) AnnotationAssertion( "ICF4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090011"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 4"^^xsd:string) SubClassOf( ) # Class: (severe combined immunodeficiency with sensitivity to ionizing radiation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11336668"^^xsd:string) "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060006"^^xsd:string) AnnotationAssertion( "MIM:602450"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.1"^^xsd:string) AnnotationAssertion( "MESH:C536786"^^xsd:string) AnnotationAssertion( "MESH:C537589"^^xsd:string) AnnotationAssertion( "NCI:C162694"^^xsd:string) AnnotationAssertion( "ORDO:275"^^xsd:string) AnnotationAssertion( "Athabaskan severe combined immunodeficiency"^^xsd:string) AnnotationAssertion( "RS-SCID"^^xsd:string) AnnotationAssertion( "SCID due to DCLRE1C deficiency"^^xsd:string) AnnotationAssertion( "SCID due to artemis deficiency"^^xsd:string) AnnotationAssertion( "SCID, Athabascan type"^^xsd:string) AnnotationAssertion( "SCID, Athabaskan type"^^xsd:string) AnnotationAssertion( "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation"^^xsd:string) AnnotationAssertion( "SCIDA"^^xsd:string) AnnotationAssertion( "artemis deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to DCLRE1C deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to artemis deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, Athabascan type"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, Athabaskan type"^^xsd:string) AnnotationAssertion( "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE"^^xsd:string) AnnotationAssertion( "partial severe combined immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090012"^^xsd:string) AnnotationAssertion(rdfs:label "severe combined immunodeficiency with sensitivity to ionizing radiation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1940786"^^xsd:string) "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601457"^^xsd:string) AnnotationAssertion( "OMIA:001574"^^xsd:string) AnnotationAssertion( "OMIA:001986"^^xsd:string) AnnotationAssertion( "MESH:C563311"^^xsd:string) AnnotationAssertion( "ORDO:331206"^^xsd:string) AnnotationAssertion( "ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "SCID due to complete RAG1-2 deficiency"^^xsd:string) AnnotationAssertion( "SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to complete RAG1-2 deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, B cell-negative"^^xsd:string) AnnotationAssertion( "severe immunodeficiency, T-cell negative, B-cell negative, NK cell-positive, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation"^^xsd:string) AnnotationAssertion( "DOID:0090013"^^xsd:string) AnnotationAssertion(rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9068311"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9843216"^^xsd:string) "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.2"^^xsd:string) AnnotationAssertion( "MESH:C563822"^^xsd:string) AnnotationAssertion( "ORDO:169154"^^xsd:string) AnnotationAssertion( "autosomal recessive T cell negative, B cell positive, NK cell positive SCID"^^xsd:string) AnnotationAssertion( "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090014"^^xsd:string) AnnotationAssertion(rdfs:label "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cenani-Lenz syndactyly syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18978656"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20381006"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6279340"^^xsd:string) "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5084"^^xsd:string) AnnotationAssertion( "MESH:C538150"^^xsd:string) AnnotationAssertion( "MIM:212780"^^xsd:string) AnnotationAssertion( "MONDO:0008931"^^xsd:string) AnnotationAssertion( "ORDO:3258"^^xsd:string) AnnotationAssertion( "CLSS"^^xsd:string) AnnotationAssertion( "Cenani syndactylism"^^xsd:string) AnnotationAssertion( "Cenani-Lenz Syndactyly"^^xsd:string) AnnotationAssertion( "Syndactyly type 7"^^xsd:string) AnnotationAssertion( "syndactyly type VII"^^xsd:string) AnnotationAssertion( "syndactyly, Cenani-Lenz type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090015"^^xsd:string) AnnotationAssertion(rdfs:label "Cenani-Lenz syndactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromosome 5q deletion syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18202658"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19898489"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25920683"^^xsd:string) "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153550"^^xsd:string) AnnotationAssertion( "GARD:10840"^^xsd:string) AnnotationAssertion( "ICD10CM:D46.7"^^xsd:string) AnnotationAssertion( "MESH:C535323"^^xsd:string) AnnotationAssertion( "ORDO:86841"^^xsd:string) AnnotationAssertion( "5q deletion syndrome"^^xsd:string) AnnotationAssertion( "5q- syndrome"^^xsd:string) AnnotationAssertion( "5q- syndrome, refractory macrocytic anemia due to 5q deletion"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"^^xsd:string) AnnotationAssertion( "MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED"^^xsd:string) AnnotationAssertion( "refractory macrocytic anemia due to 5q deletion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090016"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 5q deletion syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex with muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2662909"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8696340"^^xsd:string) "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226670"^^xsd:string) AnnotationAssertion( "MESH:C535955"^^xsd:string) AnnotationAssertion( "ORDO:257"^^xsd:string) AnnotationAssertion( "EBS5B"^^xsd:string) AnnotationAssertion( "EBSMD"^^xsd:string) AnnotationAssertion( "MD-EBS"^^xsd:string) AnnotationAssertion( "MDEBS"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 5B with muscular dystrophy"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "epidermolysa bullosa simplex and limb girdle muscular dystrophy"^^xsd:string) AnnotationAssertion( "DOID:0090017"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex with muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant familial periodic fever) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10199409"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7156325"^^xsd:string) Annotation( "https://www.nomidalliance.org/traps.php"^^xsd:string) "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142680"^^xsd:string) AnnotationAssertion( "GARD:8457"^^xsd:string) AnnotationAssertion( "ICD10CM:E85.0"^^xsd:string) AnnotationAssertion( "MESH:C536657"^^xsd:string) AnnotationAssertion( "ORDO:32960"^^xsd:string) AnnotationAssertion( "FHF"^^xsd:string) AnnotationAssertion( "FPF"^^xsd:string) AnnotationAssertion( "TNF receptor 1-associated periodic syndrome"^^xsd:string) AnnotationAssertion( "TNF receptor-associated periodic fever syndrome (TRAPS)"^^xsd:string) AnnotationAssertion( "TNF receptor-associated periodic syndrome"^^xsd:string) AnnotationAssertion( "TNF receptor-associated periodic syndrome (TRAPS)"^^xsd:string) AnnotationAssertion( "TRAPS"^^xsd:string) AnnotationAssertion( "familial hibernian fever"^^xsd:string) AnnotationAssertion( "hibernian fever"^^xsd:string) AnnotationAssertion( "tumor necrosis factor receptor 1 associated periodic syndrome"^^xsd:string) AnnotationAssertion( "tumor necrosis factor receptor-associated periodic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090018"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant familial periodic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sitosterolemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11099417"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11138003"^^xsd:string) "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7653"^^xsd:string) AnnotationAssertion( "MESH:C537345"^^xsd:string) AnnotationAssertion( "MIM:PS210250"^^xsd:string) AnnotationAssertion( "NCI:C125694"^^xsd:string) AnnotationAssertion( "ORDO:2882"^^xsd:string) AnnotationAssertion( "STSL"^^xsd:string) AnnotationAssertion( "phytosterolemia"^^xsd:string) AnnotationAssertion( "plant sterol storage disease"^^xsd:string) AnnotationAssertion( "pseudohomozygous familial hypercholesterolemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090019"^^xsd:string) AnnotationAssertion(rdfs:label "sitosterolemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12668597"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7802032"^^xsd:string) "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C574275"^^xsd:string) AnnotationAssertion( "GARD:6319"^^xsd:string) AnnotationAssertion( "MESH:C535777"^^xsd:string) AnnotationAssertion( "MIM:PS183600"^^xsd:string) AnnotationAssertion( "ORDO:2440"^^xsd:string) AnnotationAssertion( "lobster-claw deformity"^^xsd:string) AnnotationAssertion( "split hand foot deformity"^^xsd:string) AnnotationAssertion( "split hand/foot malformation"^^xsd:string) AnnotationAssertion( "split-hand deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ECD"^^xsd:string) AnnotationAssertion( "ectrodactyly"^^xsd:string) AnnotationAssertion( "DOID:0090020"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24496061"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7616545"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:183600"^^xsd:string) AnnotationAssertion( "SHFD1"^^xsd:string) AnnotationAssertion( "SHFM1"^^xsd:string) AnnotationAssertion( "SHSF1"^^xsd:string) AnnotationAssertion( "split hand foot deformity 1"^^xsd:string) AnnotationAssertion( "split-hand/foot malformation 1 with or without deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090021"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10364522"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606708"^^xsd:string) AnnotationAssertion( "ICD10CM:Q71.6"^^xsd:string) AnnotationAssertion( "ICD10CM:Q71.60"^^xsd:string) AnnotationAssertion( "MESH:C564674"^^xsd:string) AnnotationAssertion( "NCI:C75000"^^xsd:string) AnnotationAssertion( "SHFM5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090022"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 5"^^xsd:string) SubClassOf( ) # Class: (split hand-foot malformation 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10839977"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605289"^^xsd:string) AnnotationAssertion( "MESH:C565344"^^xsd:string) AnnotationAssertion( "SHFM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090023"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 1 with sensorineural hearing loss) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22121204"^^xsd:string) "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:220600"^^xsd:string) AnnotationAssertion( "RDO:0014230"^^xsd:string) AnnotationAssertion( "MESH:C565647"^^xsd:string) AnnotationAssertion( "ORDO:71271"^^xsd:string) AnnotationAssertion( "SHFM1D"^^xsd:string) AnnotationAssertion( "SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "congenital deafness and split hands and feet"^^xsd:string) AnnotationAssertion( "congenital deafness with split hands and feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090024"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 1 with sensorineural hearing loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14699611"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:246560"^^xsd:string) AnnotationAssertion( "MESH:C565437"^^xsd:string) AnnotationAssertion( "SHFM3"^^xsd:string) AnnotationAssertion( "SHSF3"^^xsd:string) AnnotationAssertion( "chromosome 10q24 duplication syndrome"^^xsd:string) AnnotationAssertion( "distal limb deficiencies with micrognathia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090025"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18515319"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225300"^^xsd:string) AnnotationAssertion( "MESH:C567616"^^xsd:string) AnnotationAssertion( "Ectrodactyly, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "SHFM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090026"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (split hand-foot malformation 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15617554"^^xsd:string) "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:313350"^^xsd:string) AnnotationAssertion( "MESH:C564056"^^xsd:string) AnnotationAssertion( "SHFD2"^^xsd:string) AnnotationAssertion( "SHFM2"^^xsd:string) AnnotationAssertion( "SHSF2"^^xsd:string) AnnotationAssertion( "split hand foot anomaly, X-linked"^^xsd:string) AnnotationAssertion( "split hand-foot malformation X-linked"^^xsd:string) AnnotationAssertion( "split-hand-foot deformity 2"^^xsd:string) AnnotationAssertion( "split-hand-split-foot anomaly, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090027"^^xsd:string) AnnotationAssertion(rdfs:label "split hand-foot malformation 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial isolated deficiency of vitamin E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2298915"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7719340"^^xsd:string) "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277460"^^xsd:string) AnnotationAssertion( "MESH:C535393"^^xsd:string) AnnotationAssertion( "NCI:C155996"^^xsd:string) AnnotationAssertion( "ORDO:96"^^xsd:string) AnnotationAssertion( "AVED"^^xsd:string) AnnotationAssertion( "Friedreich ataxia phenotype with selective vitamin E deficiency"^^xsd:string) AnnotationAssertion( "Friedreich-like ataxia"^^xsd:string) AnnotationAssertion( "Friedreich-like ataxia with isolated vitamin E deficiency"^^xsd:string) AnnotationAssertion( "Friedreich-like ataxia with selective vitamin E deficiency"^^xsd:string) AnnotationAssertion( "VED"^^xsd:string) AnnotationAssertion( "ataxia and retinitis pigmentosa with isolated vitamin E deficiency"^^xsd:string) AnnotationAssertion( "ataxia with isolated vitamin E deficiency"^^xsd:string) AnnotationAssertion( "ataxia with vitamin E deficiency"^^xsd:string) AnnotationAssertion( "familial isolated vitamin E deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090028"^^xsd:string) AnnotationAssertion(rdfs:label "familial isolated deficiency of vitamin E"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CINCA syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032915"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7252669"^^xsd:string) Annotation( "https://www.nomidalliance.org/nomid.php"^^xsd:string) "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607115"^^xsd:string) AnnotationAssertion( "NCI:C116380"^^xsd:string) AnnotationAssertion( "ORDO:1451"^^xsd:string) AnnotationAssertion( "CAPS3"^^xsd:string) AnnotationAssertion( "CINCA"^^xsd:string) AnnotationAssertion( "IOMID"^^xsd:string) AnnotationAssertion( "IOMID syndrome"^^xsd:string) AnnotationAssertion( "NOMID"^^xsd:string) AnnotationAssertion( "NOMID syndrome"^^xsd:string) AnnotationAssertion( "Prieur-Griscelli syndrome"^^xsd:string) AnnotationAssertion( "chronic infantile neurologic cutaneous and articular syndrome"^^xsd:string) AnnotationAssertion( "chronic infantile neurological cutaneous and articular syndrome"^^xsd:string) AnnotationAssertion( "chronic infantile neurological cutaneous articular syndrome"^^xsd:string) AnnotationAssertion( "chronic neurologic cutaneous and articular syndrome"^^xsd:string) AnnotationAssertion( "cryopyrin-associated periodic syndrome 3"^^xsd:string) AnnotationAssertion( "infantile-onset multisystem inflammatory disease"^^xsd:string) AnnotationAssertion( "neonatal-onset multisystem inflammatory disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090029"^^xsd:string) AnnotationAssertion(rdfs:label "CINCA syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (corticosteroid-binding globulin deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10634411"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7061486"^^xsd:string) "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611489"^^xsd:string) AnnotationAssertion( "GARD:13101"^^xsd:string) AnnotationAssertion( "ICD10CM:E27.8"^^xsd:string) AnnotationAssertion( "MESH:C565152"^^xsd:string) AnnotationAssertion( "ORDO:199247"^^xsd:string) AnnotationAssertion( "CBG deficiency"^^xsd:string) AnnotationAssertion( "Transcortin Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "elevated corticosteroid-binding globulin"^^xsd:string) AnnotationAssertion( "DOID:0090030"^^xsd:string) AnnotationAssertion(rdfs:label "corticosteroid-binding globulin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (D-bifunctional protein deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/261515"^^xsd:string) "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)"^^xsd:string) AnnotationAssertion( "HSD17B4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4539"^^xsd:string) AnnotationAssertion( "MIM:261515"^^xsd:string) AnnotationAssertion( "NCI:C119676"^^xsd:string) AnnotationAssertion( "ORDO:300"^^xsd:string) AnnotationAssertion( "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY"^^xsd:string) AnnotationAssertion( "DBP deficiency"^^xsd:string) AnnotationAssertion( "PBFE DEFICIENCY"^^xsd:string) AnnotationAssertion( "peroxisomal bifunctional enzyme deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090031"^^xsd:string) AnnotationAssertion(rdfs:label "D-bifunctional protein deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Silverman-Handmaker type dyssegmental dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/HSPG2#conditions"^^xsd:string) Annotation( "https://www.omim.org/entry/224410"^^xsd:string) "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224410"^^xsd:string) AnnotationAssertion( "HSPG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HSPG2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.7"^^xsd:string) AnnotationAssertion( "MESH:C537998"^^xsd:string) AnnotationAssertion( "ORDO:1865"^^xsd:string) AnnotationAssertion( "Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type"^^xsd:string) AnnotationAssertion( "DDSH"^^xsd:string) AnnotationAssertion( "Dyssegmental Dwarfism, Silverman-Handmaker Type"^^xsd:string) AnnotationAssertion( "Dyssegmental dwarfism"^^xsd:string) AnnotationAssertion( "anisospondylic camptomicromelic dwarfism"^^xsd:string) AnnotationAssertion( "dyssegmental dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN"^^xsd:string) AnnotationAssertion( "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN"^^xsd:string) AnnotationAssertion( "DOID:0090032"^^xsd:string) AnnotationAssertion(rdfs:label "Silverman-Handmaker type dyssegmental dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myoclonic dystonia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Myoclonic_dystonia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string) "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536096"^^xsd:string) AnnotationAssertion( "Hereditary essential myoclonus"^^xsd:string) AnnotationAssertion( "Myoclonus-Dystonia"^^xsd:string) AnnotationAssertion( "alcohol-responsive dystonia"^^xsd:string) AnnotationAssertion( "myoclonus-dystonia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090033"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic dystonia"^^xsd:string) SubClassOf( ) # Class: (myoclonic dystonia 11) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string) Annotation( "https://www.omim.org/entry/159900"^^xsd:string) "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:159900"^^xsd:string) AnnotationAssertion( "NCI:C201596"^^xsd:string) AnnotationAssertion( "ORDO:36899"^^xsd:string) AnnotationAssertion( "DYT11"^^xsd:string) AnnotationAssertion( "dystonia 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090034"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic dystonia 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoclonic dystonia 15) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string) Annotation( "https://www.omim.org/entry/607488"^^xsd:string) "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607488"^^xsd:string) AnnotationAssertion( "MESH:C538002"^^xsd:string) AnnotationAssertion( "ORDO:210566"^^xsd:string) AnnotationAssertion( "DYT15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090035"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic dystonia 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myoclonic dystonia 26) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/myoclonus-dystonia"^^xsd:string) Annotation( "https://www.omim.org/entry/616398"^^xsd:string) "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616398"^^xsd:string) AnnotationAssertion( "DYT26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090036"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic dystonia 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11261511"^^xsd:string) Annotation( "https://www.omim.org/entry/607671"^^xsd:string) "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607671"^^xsd:string) AnnotationAssertion( "MESH:C564354"^^xsd:string) AnnotationAssertion( "ORDO:98807"^^xsd:string) AnnotationAssertion( "DYT13"^^xsd:string) AnnotationAssertion( "torsion dystonia 13, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090037"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25799108"^^xsd:string) Annotation( "https://www.omim.org/entry/224500"^^xsd:string) "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224500"^^xsd:string) AnnotationAssertion( "MESH:C538006"^^xsd:string) AnnotationAssertion( "NCI:C123415"^^xsd:string) AnnotationAssertion( "ORDO:99657"^^xsd:string) AnnotationAssertion( "DYT2"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans 2"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans type 2"^^xsd:string) AnnotationAssertion( "torsion dystonia 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "torsion dystonia 2, autosomal recessive type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090038"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 6) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dystonia-6"^^xsd:string) Annotation( "https://www.omim.org/entry/602629"^^xsd:string) "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602629"^^xsd:string) AnnotationAssertion( "MESH:C538003"^^xsd:string) AnnotationAssertion( "NCI:C156361"^^xsd:string) AnnotationAssertion( "ORDO:98806"^^xsd:string) AnnotationAssertion( "DYT6"^^xsd:string) AnnotationAssertion( "Torsion dystonia adult onset mixed type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090039"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23596437"^^xsd:string) Annotation( "https://www.omim.org/entry/602124"^^xsd:string) "A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602124"^^xsd:string) AnnotationAssertion( "RDO:0002703"^^xsd:string) AnnotationAssertion( "RDO:0014889"^^xsd:string) AnnotationAssertion( "MESH:C566572"^^xsd:string) AnnotationAssertion( "DYT7"^^xsd:string) AnnotationAssertion( "Primary adult-onset torsion dystonia"^^xsd:string) AnnotationAssertion( "Torsion dystonia, focal adult-onset"^^xsd:string) AnnotationAssertion( "primary cervical dystonia"^^xsd:string) AnnotationAssertion( "TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090040"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29127012"^^xsd:string) Annotation( "https://www.omim.org/entry/128101"^^xsd:string) "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536698"^^xsd:string) AnnotationAssertion( "MIM:128101"^^xsd:string) AnnotationAssertion( "MESH:C538004"^^xsd:string) AnnotationAssertion( "ORDO:98805"^^xsd:string) AnnotationAssertion( "DYT4"^^xsd:string) AnnotationAssertion( "dystonia musculorum deformans 4"^^xsd:string) AnnotationAssertion( "hereditary whispering dysphonia"^^xsd:string) AnnotationAssertion( "torsion dystonia 4, autosomal dominant"^^xsd:string) AnnotationAssertion( "torsion dystonia 4, autosomal dominant type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090041"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23596437"^^xsd:string) Annotation( "https://www.omim.org/entry/612406"^^xsd:string) "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612406"^^xsd:string) AnnotationAssertion( "MESH:C567319"^^xsd:string) AnnotationAssertion( "ORDO:370103"^^xsd:string) AnnotationAssertion( "DYT17"^^xsd:string) AnnotationAssertion( "torsion dystonia 17, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090042"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 5) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1508/"^^xsd:string) Annotation( "https://www.omim.org/entry/128230"^^xsd:string) "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:128230"^^xsd:string) AnnotationAssertion( "MESH:C538007"^^xsd:string) AnnotationAssertion( "NCI:C116719"^^xsd:string) AnnotationAssertion( "ORDO:98808"^^xsd:string) AnnotationAssertion( "DOPA-responsive dystonia"^^xsd:string) AnnotationAssertion( "DOPA-responsive dystonia with or without hyperphenylalaninemia"^^xsd:string) AnnotationAssertion( "DOPA-responsive dystonia, autosomal dominant"^^xsd:string) AnnotationAssertion( "DRD"^^xsd:string) AnnotationAssertion( "DYT5"^^xsd:string) AnnotationAssertion( "Segawa syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "dystonia 5, Dopa-responsive type"^^xsd:string) AnnotationAssertion( "dystonia-parkinsonism with diurnal fluctuation"^^xsd:string) AnnotationAssertion( "hereditary progressive dystonia with marked diurnal fluctuation"^^xsd:string) AnnotationAssertion( "progressive dystonia with diurnal variation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090043"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1430/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30616884"^^xsd:string) Annotation( "https://www.omim.org/entry/601042"^^xsd:string) "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601042"^^xsd:string) AnnotationAssertion( "MESH:C563401"^^xsd:string) AnnotationAssertion( "ORDO:53583"^^xsd:string) AnnotationAssertion( "CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA"^^xsd:string) AnnotationAssertion( "DYT9"^^xsd:string) AnnotationAssertion( "episodic choreoathetosis/spasticity"^^xsd:string) AnnotationAssertion( "kinesigenic choreoathetosis with episodic ataxia and spasticity"^^xsd:string) AnnotationAssertion( "paroxysmal choreoathetosis with episodic ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090044"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood-onset GLUT1 deficiency syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26336901"^^xsd:string) Annotation( "https://www.omim.org/entry/612126"^^xsd:string) "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564288"^^xsd:string) AnnotationAssertion( "MIM:612126"^^xsd:string) AnnotationAssertion( "MONDO:0012805"^^xsd:string) AnnotationAssertion( "ORDO:98811"^^xsd:string) AnnotationAssertion( "DYSTONIA 18"^^xsd:string) AnnotationAssertion( "DYT18"^^xsd:string) AnnotationAssertion( "GLUT1 Deficiency Syndrome 2"^^xsd:string) AnnotationAssertion( "GLUT1DS2"^^xsd:string) AnnotationAssertion( "PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA"^^xsd:string) AnnotationAssertion( "PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA"^^xsd:string) AnnotationAssertion( "PED with or without epilepsy and/or hemolytic anemia"^^xsd:string) AnnotationAssertion( "paroxysmal exercise-induced dystonia"^^xsd:string) AnnotationAssertion( "paroxysmal exertion-induced dyskinesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090045"^^xsd:string) AnnotationAssertion(rdfs:label "childhood-onset GLUT1 deficiency syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21301909"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29770609"^^xsd:string) Annotation( "https://www.omim.org/entry/614588"^^xsd:string) "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614588"^^xsd:string) AnnotationAssertion( "ORDO:306734"^^xsd:string) AnnotationAssertion( "DYT21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090046"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (paroxysmal nonkinesigenic dyskinesia 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20425035"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22454269"^^xsd:string) "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611147"^^xsd:string) AnnotationAssertion( "RDO:0015191"^^xsd:string) AnnotationAssertion( "MESH:C567001"^^xsd:string) AnnotationAssertion( "ORDO:98810"^^xsd:string) AnnotationAssertion( "DYT20"^^xsd:string) AnnotationAssertion( "PNKD2"^^xsd:string) AnnotationAssertion( "dystonia 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090047"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal nonkinesigenic dyskinesia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28283962"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29279192"^^xsd:string) Annotation( "https://www.omim.org/entry/612067"^^xsd:string) "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10539"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.1"^^xsd:string) AnnotationAssertion( "MESH:C567430"^^xsd:string) AnnotationAssertion( "NCI:C168729"^^xsd:string) AnnotationAssertion( "ORDO:210571"^^xsd:string) AnnotationAssertion( "DYT16"^^xsd:string) AnnotationAssertion( "MIM:612067"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090048"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (paroxysmal nonkinesigenic dyskinesia 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28090678"^^xsd:string) "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118800"^^xsd:string) AnnotationAssertion( "MESH:C537181"^^xsd:string) AnnotationAssertion( "DYT8"^^xsd:string) AnnotationAssertion( "Dystonia 8"^^xsd:string) AnnotationAssertion( "FPD1"^^xsd:string) AnnotationAssertion( "Familial Paroxysmal Nonkinesigenic Dyskinesia"^^xsd:string) AnnotationAssertion( "Mount-Reback syndrome"^^xsd:string) AnnotationAssertion( "PDC"^^xsd:string) AnnotationAssertion( "PNKD1"^^xsd:string) AnnotationAssertion( "familial paroxysmal choreoathetosis"^^xsd:string) AnnotationAssertion( "nonkinesigenic choreoathetosis"^^xsd:string) AnnotationAssertion( "paroxysmal dystonic choreoathetosis"^^xsd:string) AnnotationAssertion( "paroxysmal non-kinesigenic dyskinesia"^^xsd:string) AnnotationAssertion( "paroxysmal nonkinesigenic dyskinesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090049"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal nonkinesigenic dyskinesia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26004199"^^xsd:string) Annotation( "https://www.omim.org/entry/616411"^^xsd:string) "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616411"^^xsd:string) AnnotationAssertion( "ORDO:464440"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY"^^xsd:string) AnnotationAssertion( "DYT27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090050"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 27"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dystonia 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25296916"^^xsd:string) Annotation( "https://www.omim.org/entry/614860"^^xsd:string) "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.8"^^xsd:string) AnnotationAssertion( "MIM:614860"^^xsd:string) AnnotationAssertion( "ORDO:420492"^^xsd:string) AnnotationAssertion( "DYT23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090051"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30455893"^^xsd:string) Annotation( "https://www.omim.org/entry/615034"^^xsd:string) "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009040"^^xsd:string) AnnotationAssertion( "MIM:615034"^^xsd:string) AnnotationAssertion( "ORDO:420485"^^xsd:string) AnnotationAssertion( "DYT24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090052"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic kinesigenic dyskinesia 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia"^^xsd:string) Annotation( "https://www.omim.org/entry/128200"^^xsd:string) "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:128200"^^xsd:string) AnnotationAssertion( "GARD:8721"^^xsd:string) AnnotationAssertion( "MESH:C537180"^^xsd:string) AnnotationAssertion( "NCI:C178413"^^xsd:string) AnnotationAssertion( "ORDO:98809"^^xsd:string) AnnotationAssertion( "DYT10"^^xsd:string) AnnotationAssertion( "EKD1"^^xsd:string) AnnotationAssertion( "Familial Paroxysmal Dystonia"^^xsd:string) AnnotationAssertion( "Familial Paroxysmal Kinesigenic Dyskinesia"^^xsd:string) AnnotationAssertion( "PKC"^^xsd:string) AnnotationAssertion( "PKD"^^xsd:string) AnnotationAssertion( "Paroxysmal kinesigenic choreoathetosis"^^xsd:string) AnnotationAssertion( "dystonia 10"^^xsd:string) AnnotationAssertion( "paroxysmal kinesigenic dyskinesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090053"^^xsd:string) AnnotationAssertion(rdfs:label "episodic kinesigenic dyskinesia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (episodic kinesigenic dyskinesia 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia"^^xsd:string) "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611031"^^xsd:string) AnnotationAssertion( "MESH:C567026"^^xsd:string) AnnotationAssertion( "DYT19"^^xsd:string) AnnotationAssertion( "EKD2"^^xsd:string) AnnotationAssertion( "dystonia 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090054"^^xsd:string) AnnotationAssertion(rdfs:label "episodic kinesigenic dyskinesia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28283962"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30660597"^^xsd:string) Annotation( "https://www.omim.org/entry/615073"^^xsd:string) "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615073"^^xsd:string) AnnotationAssertion( "ORDO:329466"^^xsd:string) AnnotationAssertion( "DYT25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090055"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dystonia 12) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism"^^xsd:string) Annotation( "https://www.omim.org/entry/128235"^^xsd:string) "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:128235"^^xsd:string) AnnotationAssertion( "MESH:C538001"^^xsd:string) AnnotationAssertion( "MONDO:0007496"^^xsd:string) AnnotationAssertion( "NCI:C157577"^^xsd:string) AnnotationAssertion( "ORDO:71517"^^xsd:string) AnnotationAssertion( "DYT12"^^xsd:string) AnnotationAssertion( "RDP"^^xsd:string) AnnotationAssertion( "TASK-SPECIFIC MOVEMENT DISORDER"^^xsd:string) AnnotationAssertion( "rapid-onset dystonia-parkinsonism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090056"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked dystonia-parkinsonism) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism"^^xsd:string) Annotation( "https://www.omim.org/entry/314250"^^xsd:string) "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:314250"^^xsd:string) AnnotationAssertion( "TAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10533"^^xsd:string) AnnotationAssertion( "MESH:C564048"^^xsd:string) AnnotationAssertion( "NCI:C126330"^^xsd:string) AnnotationAssertion( "ORDO:53351"^^xsd:string) AnnotationAssertion( "DYT3"^^xsd:string) AnnotationAssertion( "Lubag"^^xsd:string) AnnotationAssertion( "Lubag Syndrome"^^xsd:string) AnnotationAssertion( "Torsion Dystonia-Parkinsonism, Filipino Type"^^xsd:string) AnnotationAssertion( "X-Linked Dystonia-Parkinsonism Syndrome"^^xsd:string) AnnotationAssertion( "X-linked torsion dystonia 3"^^xsd:string) AnnotationAssertion( "X-linked torsion dystonia-parkinsonism syndrome"^^xsd:string) AnnotationAssertion( "XDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090057"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dystonia-parkinsonism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (torsion dystonia with onset in infancy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8916165"^^xsd:string) Annotation( "https://www.omim.org/entry/602554"^^xsd:string) "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602554"^^xsd:string) AnnotationAssertion( "RDO:0002704"^^xsd:string) AnnotationAssertion( "MESH:C536969"^^xsd:string) AnnotationAssertion( "ORDO:256"^^xsd:string) AnnotationAssertion( "autosomal dominant torsion dystonia with onset in infancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090058"^^xsd:string) AnnotationAssertion(rdfs:label "torsion dystonia with onset in infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (enhanced S-cone syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30900587"^^xsd:string) Annotation( "https://www.omim.org/entry/268100"^^xsd:string) "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268100"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C564835"^^xsd:string) AnnotationAssertion( "ESCS"^^xsd:string) AnnotationAssertion( "FAVRE HYALOIDEORETINAL DEGENERATION"^^xsd:string) AnnotationAssertion( "GOLDMANN-FAVRE SYNDROME"^^xsd:string) AnnotationAssertion( "RETINOSCHISIS WITH EARLY HEMERALOPIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090059"^^xsd:string) AnnotationAssertion(rdfs:label "enhanced S-cone syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wolcott-Rallison syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30906465"^^xsd:string) Annotation( "https://www.omim.org/entry/226980"^^xsd:string) "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226980"^^xsd:string) AnnotationAssertion( "ICD10CM:E13"^^xsd:string) AnnotationAssertion( "MESH:C536739"^^xsd:string) AnnotationAssertion( "ORDO:1667"^^xsd:string) AnnotationAssertion( "IDDM-MED syndrome"^^xsd:string) AnnotationAssertion( "Wolcott-Rallison dysplasia"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia with early-onset diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090060"^^xsd:string) AnnotationAssertion(rdfs:label "Wolcott-Rallison syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial cold autoinflammatory syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/"^^xsd:string) Annotation( "https://www.nomidalliance.org/fcas.php"^^xsd:string) "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "MIM:PS120100"^^xsd:string) AnnotationAssertion( "FCAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090061"^^xsd:string) AnnotationAssertion(rdfs:label "familial cold autoinflammatory syndrome"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial cold autoinflammatory syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11687797"^^xsd:string) "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)"^^xsd:string) AnnotationAssertion( "MIM:120100"^^xsd:string) AnnotationAssertion( "ORDO:47045"^^xsd:string) AnnotationAssertion( "CAPS1"^^xsd:string) AnnotationAssertion( "CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1"^^xsd:string) AnnotationAssertion( "FCAS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090062"^^xsd:string) AnnotationAssertion(rdfs:label "familial cold autoinflammatory syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial cold autoinflammatory syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18230725"^^xsd:string) "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611762"^^xsd:string) AnnotationAssertion( "MESH:C567090"^^xsd:string) AnnotationAssertion( "FCAS2"^^xsd:string) AnnotationAssertion( "NLRP12-associated hereditary periodic fever syndrome"^^xsd:string) AnnotationAssertion( "NLRP12-related condition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0090063"^^xsd:string) AnnotationAssertion(rdfs:label "familial cold autoinflammatory syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial cold autoinflammatory syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22236196"^^xsd:string) "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614468"^^xsd:string) AnnotationAssertion( "ORDO:300359"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED"^^xsd:string) AnnotationAssertion( "FACU"^^xsd:string) AnnotationAssertion( "FCAS3"^^xsd:string) AnnotationAssertion( "PLAID"^^xsd:string) AnnotationAssertion( "familial atypical cold urticaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090064"^^xsd:string) AnnotationAssertion(rdfs:label "familial cold autoinflammatory syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial cold autoinflammatory syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25385754"^^xsd:string) "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:L50.2"^^xsd:string) AnnotationAssertion( "MIM:616115"^^xsd:string) AnnotationAssertion( "ORDO:47045"^^xsd:string) AnnotationAssertion( "FCAS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090065"^^xsd:string) AnnotationAssertion(rdfs:label "familial cold autoinflammatory syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi-like syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4692131"^^xsd:string) "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227850"^^xsd:string) AnnotationAssertion( "RDO:0002566"^^xsd:string) AnnotationAssertion( "MESH:C536855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090066"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi-like syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fuhrmann syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28917830"^^xsd:string) Annotation( "https://www.omim.org/entry/228930"^^xsd:string) "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228930"^^xsd:string) AnnotationAssertion( "GARD:2410"^^xsd:string) AnnotationAssertion( "ICD10CM:Q74.8"^^xsd:string) AnnotationAssertion( "MESH:C538189"^^xsd:string) AnnotationAssertion( "ORDO:2854"^^xsd:string) AnnotationAssertion( "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090067"^^xsd:string) AnnotationAssertion(rdfs:label "Fuhrmann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (giant axonal neuropathy 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30709364"^^xsd:string) Annotation( "https://www.omim.org/entry/256850"^^xsd:string) "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002729"^^xsd:string) AnnotationAssertion( "MIM:256850"^^xsd:string) AnnotationAssertion( "ORDO:643"^^xsd:string) AnnotationAssertion( "GAN1"^^xsd:string) AnnotationAssertion( "giant axonal neuropathy 1 (GAN1)"^^xsd:string) AnnotationAssertion( "giant axonal neuropathy 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "giant axonal neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090068"^^xsd:string) AnnotationAssertion(rdfs:label "giant axonal neuropathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (giant axonal neuropathy 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24500646"^^xsd:string) Annotation( "https://www.omim.org/entry/610100"^^xsd:string) "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610100"^^xsd:string) AnnotationAssertion( "RDO:0014795"^^xsd:string) AnnotationAssertion( "MESH:C566444"^^xsd:string) AnnotationAssertion( "GAN2"^^xsd:string) AnnotationAssertion( "giant axonal neuropathy 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "giant axonal neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090069"^^xsd:string) AnnotationAssertion(rdfs:label "giant axonal neuropathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17761590"^^xsd:string) "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. (DO)"^^xsd:string) AnnotationAssertion( "DOID:7455"^^xsd:string) AnnotationAssertion( "MIM:PS147950"^^xsd:string) AnnotationAssertion( "ORDO:432"^^xsd:string) AnnotationAssertion( "congenital idiopathic hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism with or without anosmia"^^xsd:string) AnnotationAssertion( "hypogonadotropism"^^xsd:string) AnnotationAssertion( "isolated congenital gonadotropin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090070"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism"^^xsd:string) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 11 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19079066"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614840"^^xsd:string) AnnotationAssertion( "HH11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090071"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 11 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 12 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19535795"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614841"^^xsd:string) AnnotationAssertion( "MESH:C535764"^^xsd:string) AnnotationAssertion( "FIGD"^^xsd:string) AnnotationAssertion( "HH12"^^xsd:string) AnnotationAssertion( "ISOLATED GNRH DEFICIENCY"^^xsd:string) AnnotationAssertion( "familial hypogonadotrophic eunuchoidism"^^xsd:string) AnnotationAssertion( "familial idiopathic gonadotropin deficiency"^^xsd:string) AnnotationAssertion( "familial idiopathic gonadotrpin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090072"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 12 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 13 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22335740"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614842"^^xsd:string) AnnotationAssertion( "HH13"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 13 without anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090073"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 13 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 8 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14573733"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614837"^^xsd:string) AnnotationAssertion( "HH8"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 8 without anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090074"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 8 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 15 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21700882"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E23.0"^^xsd:string) AnnotationAssertion( "MIM:614880"^^xsd:string) AnnotationAssertion( "HH15"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 15 with anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0090075"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 15 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 18 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615267"^^xsd:string) AnnotationAssertion( "HH18"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 18 with anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090076"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 18 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 4 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18559922"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610628"^^xsd:string) AnnotationAssertion( "MESH:C565696"^^xsd:string) AnnotationAssertion( "HH4"^^xsd:string) AnnotationAssertion( "Kallmann syndrome 4"^^xsd:string) AnnotationAssertion( "PROK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090077"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 4 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 7 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17235395"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9371856"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146110"^^xsd:string) AnnotationAssertion( "MESH:C562785"^^xsd:string) AnnotationAssertion( "HH7"^^xsd:string) AnnotationAssertion( "IHH"^^xsd:string) AnnotationAssertion( "ISOLATED CONGENITAL HYPOGONADOTROPIC HYPOGONADISM"^^xsd:string) AnnotationAssertion( "idiopathic hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "isolated hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090078"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 7 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 17 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000881"^^xsd:string) AnnotationAssertion( "ICD10CM:E23.0"^^xsd:string) AnnotationAssertion( "MIM:615266"^^xsd:string) AnnotationAssertion( "HH17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090079"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 17 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 16 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22416012"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22927827"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614897"^^xsd:string) AnnotationAssertion( "HH16"^^xsd:string) AnnotationAssertion( "SEMA3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090080"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 16 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 22 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25192046"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001195"^^xsd:string) AnnotationAssertion( "MIM:616030"^^xsd:string) AnnotationAssertion( "HH22"^^xsd:string) AnnotationAssertion( "HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090081"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 22 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 20 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000885"^^xsd:string) AnnotationAssertion( "MIM:615270"^^xsd:string) AnnotationAssertion( "HH20"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 20 without anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090082"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 20 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 2 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12627230"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20696889"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:147950"^^xsd:string) AnnotationAssertion( "HH2"^^xsd:string) AnnotationAssertion( "KAL2"^^xsd:string) AnnotationAssertion( "Kallmann syndrome 2"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 2 with anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 2 with anosmia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0090083"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 2 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 5 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18834967"^^xsd:string) "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "CHD7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:612370"^^xsd:string) AnnotationAssertion( "HH5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090084"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 5 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 9 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15362570"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17235395"^^xsd:string) "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614838"^^xsd:string) AnnotationAssertion( "HH9"^^xsd:string) AnnotationAssertion( "NSMF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090085"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 9 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 6 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18596921"^^xsd:string) "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612702"^^xsd:string) AnnotationAssertion( "HH6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090086"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 6 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 14 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20887964"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614858"^^xsd:string) AnnotationAssertion( "HH14"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 14 with anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090087"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 14 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 24 without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8220432"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9271483"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:229070"^^xsd:string) AnnotationAssertion( "ICD10CM:E23.6"^^xsd:string) AnnotationAssertion( "MESH:C537070"^^xsd:string) AnnotationAssertion( "ORDO:52901"^^xsd:string) AnnotationAssertion( "HH24"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 24 with or without anosmia"^^xsd:string) AnnotationAssertion( "isolated FSH deficiency"^^xsd:string) AnnotationAssertion( "isolated follicle-stimulating hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090088"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 24 without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 10 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19079066"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614839"^^xsd:string) AnnotationAssertion( "HH10"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 10 without anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090089"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 10 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 19 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000884"^^xsd:string) AnnotationAssertion( "MIM:615269"^^xsd:string) AnnotationAssertion( "HH19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090090"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 19 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 23 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1727547"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22723313"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228300"^^xsd:string) AnnotationAssertion( "ICD10CM:Q56.1"^^xsd:string) AnnotationAssertion( "MESH:C537919"^^xsd:string) AnnotationAssertion( "ORDO:325448"^^xsd:string) AnnotationAssertion( "46,XY DSD due to LHB deficiency"^^xsd:string) AnnotationAssertion( "46,XY DSD due to luteinizing hormone subunit beta deficiency"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to LHB deficiency"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency"^^xsd:string) AnnotationAssertion( "HH23"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"^^xsd:string) AnnotationAssertion( "Pasqualini syndrome"^^xsd:string) AnnotationAssertion( "fertile eunuch syndrome"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 23 without anosmia"^^xsd:string) AnnotationAssertion( "leydig cell hypoplasia due to LHB deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090091"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 23 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 3 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18559922"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003766"^^xsd:string) AnnotationAssertion( "MIM:244200"^^xsd:string) AnnotationAssertion( "HH3"^^xsd:string) AnnotationAssertion( "Kallmann syndrome 3"^^xsd:string) AnnotationAssertion( "Kallmann syndrome type 3, recessive"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 3 without anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090092"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 3 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 21 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23643382"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615271"^^xsd:string) AnnotationAssertion( "HH21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090093"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 21 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypogonadotropic hypogonadism 1 with or without anosmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1594017"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16882753"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17054399"^^xsd:string) "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:308700"^^xsd:string) AnnotationAssertion( "ANOS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HH1"^^xsd:string) AnnotationAssertion( "KAL1"^^xsd:string) AnnotationAssertion( "Kallmann syndrome 1"^^xsd:string) AnnotationAssertion( "Kallmann syndrome type 1, X-linked"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090094"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadotropic hypogonadism 1 with or without anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ocular albinism with sensorineural deafness) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ocular-albinism"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28356565"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29531335"^^xsd:string) Annotation( "https://www.omim.org/entry/103470"^^xsd:string) "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300650"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.3"^^xsd:string) AnnotationAssertion( "MESH:C537043"^^xsd:string) AnnotationAssertion( "ORDO:352740"^^xsd:string) AnnotationAssertion( "OASD"^^xsd:string) AnnotationAssertion( "WS2-OA"^^xsd:string) AnnotationAssertion( "autosomal recessive Waardenburg syndrome type 2, with ocular albinism"^^xsd:string) AnnotationAssertion( "autosomal recessive Waardenburg syndrome type II, with ocular albinism"^^xsd:string) AnnotationAssertion( "deafness and ocular albinism"^^xsd:string) AnnotationAssertion( "digenic Waardenburg syndrome type 2A with ocular albinism"^^xsd:string) AnnotationAssertion( "digenic Waardenburg syndrome/albinism"^^xsd:string) AnnotationAssertion( "digenic Waardenburg syndrome/ocular albinism"^^xsd:string) AnnotationAssertion( "ocular albinism with late-onset sensorineural deafness"^^xsd:string) AnnotationAssertion( "ocular albinism, late-onset sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090100"^^xsd:string) AnnotationAssertion(rdfs:label "ocular albinism with sensorineural deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lethal congenital glycogen storage disease of heart) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/PRKAG2#conditions"^^xsd:string) Annotation( "https://www.omim.org/entry/261740"^^xsd:string) "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.0+"^^xsd:string) AnnotationAssertion( "ICD10CM:G73.6*"^^xsd:string) AnnotationAssertion( "MESH:C564888"^^xsd:string) AnnotationAssertion( "MIM:261740"^^xsd:string) AnnotationAssertion( "MONDO:0009867"^^xsd:string) AnnotationAssertion( "ORDO:439854"^^xsd:string) AnnotationAssertion( "fatal congenital hypertrophic cardiomyopathy due to GSD"^^xsd:string) AnnotationAssertion( "fatal congenital hypertrophic cardiomyopathy due to glycogenosis"^^xsd:string) AnnotationAssertion( "fatal congenital nonlysosomal cardiac glycogenosis"^^xsd:string) AnnotationAssertion( "glycogen storage disease of heart"^^xsd:string) AnnotationAssertion( "phosphorylase kinase deficiency of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090101"^^xsd:string) AnnotationAssertion(rdfs:label "lethal congenital glycogen storage disease of heart"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant macrothrombocytopenia TUBB1-related) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27291889"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27905099"^^xsd:string) Annotation( "https://www.omim.org/entry/613112"^^xsd:string) "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613112"^^xsd:string) AnnotationAssertion( "OMIA:001001"^^xsd:string) AnnotationAssertion( "MESH:C567747"^^xsd:string) AnnotationAssertion( "ORDO:140957"^^xsd:string) AnnotationAssertion( "MACTHC1"^^xsd:string) AnnotationAssertion( "TUBB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant isolated macrothrombocytopenia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090102"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant macrothrombocytopenia TUBB1-related"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Huntington's disease-like 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/603218"^^xsd:string) "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603218"^^xsd:string) AnnotationAssertion( "ICD10CM:G10"^^xsd:string) AnnotationAssertion( "MESH:C566398"^^xsd:string) AnnotationAssertion( "ORDO:157941"^^xsd:string) AnnotationAssertion( "HDL1"^^xsd:string) AnnotationAssertion( "HLN1"^^xsd:string) AnnotationAssertion( "Huntington disease-like 1"^^xsd:string) AnnotationAssertion( "Huntington-Like Neurodegenerative Disorder 1"^^xsd:string) AnnotationAssertion( "Huntington-Like Neurodegenerative Disorder, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "early-onset prion disease with prominent psychiatric features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090103"^^xsd:string) AnnotationAssertion(rdfs:label "Huntington's disease-like 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Huntington's disease-like 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/606438"^^xsd:string) "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606438"^^xsd:string) AnnotationAssertion( "MESH:C564708"^^xsd:string) AnnotationAssertion( "ORDO:98934"^^xsd:string) AnnotationAssertion( "HDL2"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090104"^^xsd:string) AnnotationAssertion(rdfs:label "Huntington's disease-like 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive hypercholesterolemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hypercholesterolemia"^^xsd:string) Annotation( "https://www.omim.org/entry/603813"^^xsd:string) "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.0"^^xsd:string) AnnotationAssertion( "MIM:603813"^^xsd:string) AnnotationAssertion( "NCI:C128114"^^xsd:string) AnnotationAssertion( "ORDO:391665"^^xsd:string) AnnotationAssertion( "ARH"^^xsd:string) AnnotationAssertion( "ARH1"^^xsd:string) AnnotationAssertion( "ARH2"^^xsd:string) AnnotationAssertion( "FHCB1"^^xsd:string) AnnotationAssertion( "FHCB2"^^xsd:string) AnnotationAssertion( "FHCL4"^^xsd:string) AnnotationAssertion( "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA"^^xsd:string) AnnotationAssertion( "autosomal recessive hypercholesterolemia 1"^^xsd:string) AnnotationAssertion( "autosomal recessive hypercholesterolemia 2"^^xsd:string) AnnotationAssertion( "familial autosomal recessive hypercholesterolemia"^^xsd:string) AnnotationAssertion( "familial hypercholesterolemia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090105"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive hypercholesterolemia"^^xsd:string) SubClassOf( ) # Class: (BH4-deficient hyperphenylalaninemia A) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/261640"^^xsd:string) "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261640"^^xsd:string) AnnotationAssertion( "GARD:5682"^^xsd:string) AnnotationAssertion( "MESH:C535325"^^xsd:string) AnnotationAssertion( "NCI:C138171"^^xsd:string) AnnotationAssertion( "ORDO:13"^^xsd:string) AnnotationAssertion( "6-pyruvoyl-tetrahydropterin synthase deficiency"^^xsd:string) AnnotationAssertion( "HPABH4A"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia, BH4-Deficient, Type A"^^xsd:string) AnnotationAssertion( "PTS Deficiency"^^xsd:string) AnnotationAssertion( "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency"^^xsd:string) AnnotationAssertion( "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090106"^^xsd:string) AnnotationAssertion(rdfs:label "BH4-deficient hyperphenylalaninemia A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant hypocalcemia 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string) Annotation( "https://www.omim.org/entry/601198"^^xsd:string) "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562783"^^xsd:string) AnnotationAssertion( "MIM:601198"^^xsd:string) AnnotationAssertion( "MONDO:0011013"^^xsd:string) AnnotationAssertion( "HYPOC1"^^xsd:string) AnnotationAssertion( "Hypercalciuric Hypocalcemia, Familial"^^xsd:string) AnnotationAssertion( "familial hypocalcemia"^^xsd:string) AnnotationAssertion( "hypercalciuric hypocalcemia"^^xsd:string) AnnotationAssertion( "hypoparathyroidism, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090107"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hypocalcemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant hypocalcemia 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string) Annotation( "https://www.omim.org/entry/615361"^^xsd:string) "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615361"^^xsd:string) AnnotationAssertion( "HYPOC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090108"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hypocalcemia 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant hypocalcemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27803672"^^xsd:string) "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2877"^^xsd:string) AnnotationAssertion( "ICD10CM:E20.8"^^xsd:string) AnnotationAssertion( "ORDO:428"^^xsd:string) AnnotationAssertion( "MIM:PS601198"^^xsd:string) AnnotationAssertion( "HYPOC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090109"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hypocalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/304790"^^xsd:string) "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304790"^^xsd:string) AnnotationAssertion( "GARD:1850"^^xsd:string) AnnotationAssertion( "MESH:C580192"^^xsd:string) AnnotationAssertion( "ORDO:37042"^^xsd:string) AnnotationAssertion( "Autoimmunity-Immunodeficiency Syndrome, X-Linked"^^xsd:string) AnnotationAssertion( "DMSD"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea"^^xsd:string) AnnotationAssertion( "Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked"^^xsd:string) AnnotationAssertion( "Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy"^^xsd:string) AnnotationAssertion( "IDDM-Secretory Diarrhea Syndrome"^^xsd:string) AnnotationAssertion( "INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME"^^xsd:string) AnnotationAssertion( "IPEX"^^xsd:string) AnnotationAssertion( "Ipex Syndrome"^^xsd:string) AnnotationAssertion( "X-linked autoimmunity-allergic dysregulation syndrome"^^xsd:string) AnnotationAssertion( "X-linked immunodysregulation, polyendocrinopathy, and enteropathy"^^xsd:string) AnnotationAssertion( "X-linked polyendocrinopathy, immune dysfunction, and diarrhea"^^xsd:string) AnnotationAssertion( "XLAAD"^^xsd:string) AnnotationAssertion( "XPID"^^xsd:string) AnnotationAssertion( "autoimmune enteropathy type 1"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED"^^xsd:string) AnnotationAssertion( "absence of islets of Langerhans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090110"^^xsd:string) AnnotationAssertion(rdfs:label "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PCWH syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/gene/SOX10#conditions"^^xsd:string) Annotation( "https://www.omim.org/entry/609136"^^xsd:string) "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609136"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.2"^^xsd:string) AnnotationAssertion( "MESH:C563789"^^xsd:string) AnnotationAssertion( "ORDO:163746"^^xsd:string) AnnotationAssertion( "PCWH"^^xsd:string) AnnotationAssertion( "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"^^xsd:string) AnnotationAssertion( "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome"^^xsd:string) AnnotationAssertion( "Waardenburg-Shah syndrome, neurologic variant"^^xsd:string) AnnotationAssertion( "neurologic Waardenburg-Shah syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090111"^^xsd:string) AnnotationAssertion(rdfs:label "PCWH syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nasu-Hakola disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30042649"^^xsd:string) Annotation( "https://www.omim.org/entry/221770"^^xsd:string) "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:221770"^^xsd:string) AnnotationAssertion( "GARD:9921"^^xsd:string) AnnotationAssertion( "MESH:C536329"^^xsd:string) AnnotationAssertion( "ORDO:2770"^^xsd:string) AnnotationAssertion( "NHD"^^xsd:string) AnnotationAssertion( "PLO-SL"^^xsd:string) AnnotationAssertion( "PLOSL"^^xsd:string) AnnotationAssertion( "PLOSL1"^^xsd:string) AnnotationAssertion( "brain-bone-fat disease"^^xsd:string) AnnotationAssertion( "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"^^xsd:string) AnnotationAssertion( "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"^^xsd:string) AnnotationAssertion( "prefrontal dementia with bone cysts"^^xsd:string) AnnotationAssertion( "presenile dementia with bone cysts"^^xsd:string) AnnotationAssertion( "progressive dementia with lipomembranous polycystic osteodysplasia"^^xsd:string) AnnotationAssertion( "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090112"^^xsd:string) AnnotationAssertion(rdfs:label "Nasu-Hakola disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Riddle syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29255463"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30122534"^^xsd:string) Annotation( "https://www.omim.org/entry/611943"^^xsd:string) "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611943"^^xsd:string) AnnotationAssertion( "EFO:0009055"^^xsd:string) AnnotationAssertion( "MESH:C567453"^^xsd:string) AnnotationAssertion( "ORDO:420741"^^xsd:string) AnnotationAssertion( "RIDL"^^xsd:string) AnnotationAssertion( "RNF168 deficiency"^^xsd:string) AnnotationAssertion( "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090113"^^xsd:string) AnnotationAssertion(rdfs:label "Riddle syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sorsby's fundus dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26077580"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26239453"^^xsd:string) Annotation( "https://www.omim.org/entry/136900"^^xsd:string) "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136900"^^xsd:string) AnnotationAssertion( "RDO:0013764"^^xsd:string) AnnotationAssertion( "MESH:C564992"^^xsd:string) AnnotationAssertion( "Fundus Dystrophy, Pseudoinflammatory, of Sorsby"^^xsd:string) AnnotationAssertion( "Macular Dystrophy, Hemorrhagic"^^xsd:string) AnnotationAssertion( "SFD"^^xsd:string) AnnotationAssertion( "Sorsby fundus dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090114"^^xsd:string) AnnotationAssertion(rdfs:label "Sorsby's fundus dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinocerebellar ataxia with axonal neuropathy 1) AnnotationAssertion(Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124"^^xsd:string) "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607250"^^xsd:string) AnnotationAssertion( "GARD:10000"^^xsd:string) AnnotationAssertion( "ICD10CM:G60.2"^^xsd:string) AnnotationAssertion( "MESH:C537313"^^xsd:string) AnnotationAssertion( "ORDO:94124"^^xsd:string) AnnotationAssertion( "SCAN1"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 1 with axonal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090115"^^xsd:string) AnnotationAssertion(rdfs:label "spinocerebellar ataxia with axonal neuropathy 1"^^xsd:string) SubClassOf( ) # Class: (spondylocarpotarsal synostosis syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29566257"^^xsd:string) Annotation( "https://www.omim.org/entry/272460"^^xsd:string) "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272460"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "GARD:4974"^^xsd:string) AnnotationAssertion( "ICD10CM:Q76.4"^^xsd:string) AnnotationAssertion( "MESH:C535780"^^xsd:string) AnnotationAssertion( "ORDO:3275"^^xsd:string) AnnotationAssertion( "SCT"^^xsd:string) AnnotationAssertion( "SCT syndrome"^^xsd:string) AnnotationAssertion( "congenital scoliosis with unilateral unsegmented bar"^^xsd:string) AnnotationAssertion( "congenital synspondylism"^^xsd:string) AnnotationAssertion( "spondylocarpotarsal syndrome"^^xsd:string) AnnotationAssertion( "spondylocarpotarsal synostosis"^^xsd:string) AnnotationAssertion( "vertebral fusion with carpal coalition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090116"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocarpotarsal synostosis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thiamine-responsive megaloblastic anemia syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1282/"^^xsd:string) Annotation( "https://www.omim.org/entry/249270"^^xsd:string) "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9210"^^xsd:string) AnnotationAssertion( "MESH:C536510"^^xsd:string) AnnotationAssertion( "MIM:249270"^^xsd:string) AnnotationAssertion( "MONDO:0009575"^^xsd:string) AnnotationAssertion( "ORDO:498277"^^xsd:string) AnnotationAssertion( "Abboud syndrome"^^xsd:string) AnnotationAssertion( "Rogers syndrome"^^xsd:string) AnnotationAssertion( "THMD1"^^xsd:string) AnnotationAssertion( "TRMA"^^xsd:string) AnnotationAssertion( "thiamine metabolism dysfunction syndrome 1"^^xsd:string) AnnotationAssertion( "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)"^^xsd:string) AnnotationAssertion( "thiamine responsive myelodysplasia"^^xsd:string) AnnotationAssertion( "thiamine-responsive anaemia syndrome"^^xsd:string) AnnotationAssertion( "thiamine-responsive anemia syndrome"^^xsd:string) AnnotationAssertion( "thiamine-responsive megaloblastic anaemia syndrome"^^xsd:string) AnnotationAssertion( "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness"^^xsd:string) AnnotationAssertion( "thiamine-responsive megaloblastic anemia"^^xsd:string) AnnotationAssertion( "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090117"^^xsd:string) AnnotationAssertion(rdfs:label "thiamine-responsive megaloblastic anemia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital amegakaryocytic thrombocytopenia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29191945"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29384262"^^xsd:string) Annotation( "https://www.omim.org/entry/604498"^^xsd:string) "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "GARD:640"^^xsd:string) AnnotationAssertion( "MESH:C535982"^^xsd:string) AnnotationAssertion( "NCI:C115207"^^xsd:string) AnnotationAssertion( "ORDO:3319"^^xsd:string) AnnotationAssertion( "CAMT"^^xsd:string) AnnotationAssertion( "congenital amegakaryocytic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090118"^^xsd:string) AnnotationAssertion(rdfs:label "congenital amegakaryocytic thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ankyloblepharon-ectodermal defects-cleft lip/palate syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29339502"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29956718"^^xsd:string) Annotation( "https://www.omim.org/entry/106260"^^xsd:string) "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106260"^^xsd:string) AnnotationAssertion( "MESH:C535847"^^xsd:string) AnnotationAssertion( "NCI:C157576"^^xsd:string) AnnotationAssertion( "ORDO:1071"^^xsd:string) AnnotationAssertion( "AEC SYNDROME"^^xsd:string) AnnotationAssertion( "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE"^^xsd:string) AnnotationAssertion( "Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome"^^xsd:string) AnnotationAssertion( "Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate"^^xsd:string) AnnotationAssertion( "Hay Wells syndrome dominant form"^^xsd:string) AnnotationAssertion( "Hay-Wells Syndrome"^^xsd:string) AnnotationAssertion( "Hay-Wells syndrome of ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090119"^^xsd:string) AnnotationAssertion(rdfs:label "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary neutrophilia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25189721"^^xsd:string) Annotation( "https://www.omim.org/entry/162830"^^xsd:string) "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563010"^^xsd:string) AnnotationAssertion( "MIM:162830"^^xsd:string) AnnotationAssertion( "MONDO:0008092"^^xsd:string) AnnotationAssertion( "ORDO:279943"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090120"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary neutrophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (aromatase excess syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/139300"^^xsd:string) "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000705"^^xsd:string) AnnotationAssertion( "MESH:C000591739"^^xsd:string) AnnotationAssertion( "MESH:C564416"^^xsd:string) AnnotationAssertion( "MIM:139300"^^xsd:string) AnnotationAssertion( "MIM:613546"^^xsd:string) AnnotationAssertion( "GARD:12949"^^xsd:string) AnnotationAssertion( "ICD10CM:E30.1"^^xsd:string) AnnotationAssertion( "MESH:C537436"^^xsd:string) AnnotationAssertion( "ORDO:178345"^^xsd:string) AnnotationAssertion( "AEXS"^^xsd:string) AnnotationAssertion( "aromatase deficiency"^^xsd:string) AnnotationAssertion( "familial gynecomastia"^^xsd:string) AnnotationAssertion( "familial gynecomastia, due to increased aromatase activity"^^xsd:string) AnnotationAssertion( "familial hyperestrogenism"^^xsd:string) AnnotationAssertion( "female pseudohermaphroditism due to placental aromatase deficiency"^^xsd:string) AnnotationAssertion( "hereditary prepubertal gynecomastia"^^xsd:string) AnnotationAssertion( "increased aromatase activity"^^xsd:string) AnnotationAssertion( "hereditary gynecomastia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090122"^^xsd:string) AnnotationAssertion(rdfs:label "aromatase excess syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aromatic L-amino acid decarboxylase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/608643"^^xsd:string) "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608643"^^xsd:string) AnnotationAssertion( "GARD:770"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.81"^^xsd:string) AnnotationAssertion( "MESH:C537437"^^xsd:string) AnnotationAssertion( "NCI:C142085"^^xsd:string) AnnotationAssertion( "ORDO:35708"^^xsd:string) AnnotationAssertion( "AADC deficiency"^^xsd:string) AnnotationAssertion( "AADCD"^^xsd:string) AnnotationAssertion( "DDC deficiency"^^xsd:string) AnnotationAssertion( "DOPA decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "aromatic amino acid decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of aromatic-L-amino-acid decarboxylase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090123"^^xsd:string) AnnotationAssertion(rdfs:label "aromatic L-amino acid decarboxylase deficiency"^^xsd:string) SubClassOf( ) # Class: (neurogenic-type arthrogryposis multiplex congenita-2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28317099"^^xsd:string) Annotation( "https://www.omim.org/entry/208100"^^xsd:string) "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9006267"^^xsd:string) AnnotationAssertion( "MIM:208100"^^xsd:string) AnnotationAssertion( "MESH:C536614"^^xsd:string) AnnotationAssertion( "ORDO:1143"^^xsd:string) AnnotationAssertion( "AMC, neurogenic type"^^xsd:string) AnnotationAssertion( "AMC2"^^xsd:string) AnnotationAssertion( "AMCN"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita neurogenic type"^^xsd:string) AnnotationAssertion( "neurogenic arthrogryposis multiplex congenita"^^xsd:string) AnnotationAssertion( "neurogenic arthrogryposis multiplex congenita 2"^^xsd:string) AnnotationAssertion( "neurogenic type of AMC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090124"^^xsd:string) AnnotationAssertion(rdfs:label "neurogenic-type arthrogryposis multiplex congenita-2"^^xsd:string) SubClassOf( ) # Class: (brain small vessel disease 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/familial-porencephaly"^^xsd:string) Annotation( "https://www.omim.org/entry/175780"^^xsd:string) "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175780"^^xsd:string) AnnotationAssertion( "MESH:C564372"^^xsd:string) AnnotationAssertion( "ORDO:36383"^^xsd:string) AnnotationAssertion( "BSVD1"^^xsd:string) AnnotationAssertion( "COL4A1-related brain small vessel disease with hemorrhage"^^xsd:string) AnnotationAssertion( "COL4A1-related brain small-vessel disease"^^xsd:string) AnnotationAssertion( "COL4A1-related familial vascular leukoencephalopathy"^^xsd:string) AnnotationAssertion( "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome"^^xsd:string) AnnotationAssertion( "Gould syndrome 1"^^xsd:string) AnnotationAssertion( "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy"^^xsd:string) AnnotationAssertion( "brain small vessel disease 1 with or without ocular anomalies"^^xsd:string) AnnotationAssertion( "brain small vessel disease with Axenfeld-Riegar anomaly"^^xsd:string) AnnotationAssertion( "brain small vessel disease with Axenfeld-Rieger anomaly"^^xsd:string) AnnotationAssertion( "brain small vessel disease with hemorrhage"^^xsd:string) AnnotationAssertion( "brain small vessel disease with or without ocular anomalies"^^xsd:string) AnnotationAssertion( "infantile hemiparesis"^^xsd:string) AnnotationAssertion( "infantile hemiplegia with porencephaly"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with Axenfeld-Riegar anomaly"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with Axenfeld-Rieger anomaly"^^xsd:string) AnnotationAssertion( "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "porencephaly 1"^^xsd:string) AnnotationAssertion( "porencephaly type 1"^^xsd:string) AnnotationAssertion( "porencephaly type 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "DOID:0090125"^^xsd:string) AnnotationAssertion(rdfs:label "brain small vessel disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (branched-chain keto acid dehydrogenase kinase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24449431"^^xsd:string) Annotation( "https://www.omim.org/entry/614901"^^xsd:string) "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614923"^^xsd:string) AnnotationAssertion( "ORDO:308410"^^xsd:string) AnnotationAssertion( "BCKDK deficiency"^^xsd:string) AnnotationAssertion( "BCKDKD"^^xsd:string) AnnotationAssertion( "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090126"^^xsd:string) AnnotationAssertion(rdfs:label "branched-chain keto acid dehydrogenase kinase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (camptodactyly-arthropathy-coxa vara-pericarditis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29397575"^^xsd:string) Annotation( "https://www.omim.org/entry/208250"^^xsd:string) "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208250"^^xsd:string) AnnotationAssertion( "EFO:0009028"^^xsd:string) AnnotationAssertion( "MESH:C537560"^^xsd:string) AnnotationAssertion( "ORDO:2848"^^xsd:string) AnnotationAssertion( "CACP"^^xsd:string) AnnotationAssertion( "CACP syndrome"^^xsd:string) AnnotationAssertion( "CAP syndrome"^^xsd:string) AnnotationAssertion( "Jacobs syndrome"^^xsd:string) AnnotationAssertion( "PAC syndrome"^^xsd:string) AnnotationAssertion( "arthropathy camptodactyly syndrome"^^xsd:string) AnnotationAssertion( "camptodactyly arthropathy pericarditis syndrome"^^xsd:string) AnnotationAssertion( "congenital familial hypertrophic synovitis"^^xsd:string) AnnotationAssertion( "familial fibrosing serositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090127"^^xsd:string) AnnotationAssertion(rdfs:label "camptodactyly-arthropathy-coxa vara-pericarditis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carvajal syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair"^^xsd:string) Annotation( "https://www.omim.org/entry/605676"^^xsd:string) "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605676"^^xsd:string) AnnotationAssertion( "GARD:5595"^^xsd:string) AnnotationAssertion( "MESH:C535581"^^xsd:string) AnnotationAssertion( "ORDO:65282"^^xsd:string) AnnotationAssertion( "DCWHK"^^xsd:string) AnnotationAssertion( "Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with woolly hair and keratoderma"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, woolly hair, keratoderma"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090128"^^xsd:string) AnnotationAssertion(rdfs:label "Carvajal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (carnitine palmitoyltransferase I deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/255120"^^xsd:string) "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:255120"^^xsd:string) AnnotationAssertion( "GARD:1120"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.3"^^xsd:string) AnnotationAssertion( "MESH:C535588"^^xsd:string) AnnotationAssertion( "ORDO:156"^^xsd:string) AnnotationAssertion( "CARNITINE PALMITOYL TRANSFERASE 1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY"^^xsd:string) AnnotationAssertion( "CPT 1A Deficiency"^^xsd:string) AnnotationAssertion( "CPT DEFICIENCY, HEPATIC, TYPE IA"^^xsd:string) AnnotationAssertion( "CPT Deficiency, Hepatic, Type I"^^xsd:string) AnnotationAssertion( "CPT I deficiency"^^xsd:string) AnnotationAssertion( "CPT1A deficiency"^^xsd:string) AnnotationAssertion( "Carnitine Palmitoyltransferase IA Deficiency"^^xsd:string) AnnotationAssertion( "L-CPT1 deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyl transferase 1A deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyl transferase IA deficiency"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase 1 deficiency"^^xsd:string) AnnotationAssertion( "hepatic carnitine palmitoyl transferase 1 deficiency"^^xsd:string) AnnotationAssertion( "hepatic carnitine palmitoyl transferase I deficiency"^^xsd:string) AnnotationAssertion( "hepatic carnitine palmitoyltransferase 1 deficiency"^^xsd:string) AnnotationAssertion( "liver form of carnitine palmitoyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090129"^^xsd:string) AnnotationAssertion(rdfs:label "carnitine palmitoyltransferase I deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cortical dysplasia-focal epilepsy syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27439707"^^xsd:string) Annotation( "https://www.omim.org/entry/610042"^^xsd:string) "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610042"^^xsd:string) AnnotationAssertion( "MESH:C567657"^^xsd:string) AnnotationAssertion( "NCI:C133743"^^xsd:string) AnnotationAssertion( "ORDO:163681"^^xsd:string) AnnotationAssertion( "CDFE syndrome"^^xsd:string) AnnotationAssertion( "CDFES"^^xsd:string) AnnotationAssertion( "PITT-HOPKINS-LIKE SYNDROME 1"^^xsd:string) AnnotationAssertion( "PTHSL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090130"^^xsd:string) AnnotationAssertion(rdfs:label "cortical dysplasia-focal epilepsy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20829227"^^xsd:string) "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054220"^^xsd:string) AnnotationAssertion( "MIM:PS614039"^^xsd:string) AnnotationAssertion( "CDCBM"^^xsd:string) AnnotationAssertion( "Cerebral Cortical Dysplasia"^^xsd:string) AnnotationAssertion( "Cortical Development Malformation"^^xsd:string) AnnotationAssertion( "Cortical Development Malformations"^^xsd:string) AnnotationAssertion( "Cortical Dysplasia"^^xsd:string) AnnotationAssertion( "Cortical Dysplasias"^^xsd:string) AnnotationAssertion( "Malformations of Cerebral Cortex Development"^^xsd:string) AnnotationAssertion( "cerebral cortical dysplasias"^^xsd:string) AnnotationAssertion( "malformations of cortical development"^^xsd:string) AnnotationAssertion( "FCD"^^xsd:string) AnnotationAssertion( "Focal cortical dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090131"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 7) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/polymicrogyria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30016746"^^xsd:string) Annotation( "https://www.omim.org/entry/610031"^^xsd:string) "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610031"^^xsd:string) AnnotationAssertion( "ORDO:300573"^^xsd:string) AnnotationAssertion( "CDCBM7"^^xsd:string) AnnotationAssertion( "PMGYSA"^^xsd:string) AnnotationAssertion( "POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC"^^xsd:string) AnnotationAssertion( "TUBB2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "polymicrogyria due to TUBB2B mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090132"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 7"^^xsd:string) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29048727"^^xsd:string) Annotation( "https://www.omim.org/entry/615282"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615282"^^xsd:string) AnnotationAssertion( "MONDO:0014116"^^xsd:string) AnnotationAssertion( "CDCBM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090133"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29077851"^^xsd:string) Annotation( "https://www.omim.org/entry/615411"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000937"^^xsd:string) AnnotationAssertion( "MIM:615411"^^xsd:string) AnnotationAssertion( "CDCBM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090134"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) Annotation( "https://www.omim.org/entry/615763"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615763"^^xsd:string) AnnotationAssertion( "NCI:C189285"^^xsd:string) AnnotationAssertion( "CDCBM5"^^xsd:string) AnnotationAssertion( "TUBB2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090135"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30936767"^^xsd:string) Annotation( "https://www.omim.org/entry/615771"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615771"^^xsd:string) AnnotationAssertion( "CDCBM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDCBM56"^^xsd:string) AnnotationAssertion( "DOID:0090136"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30016746"^^xsd:string) Annotation( "https://www.omim.org/entry/614039"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)"^^xsd:string) AnnotationAssertion( "TUBB3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TUBB3-related disorder"^^xsd:string) AnnotationAssertion( "TUBB3-related tubulinopathy"^^xsd:string) AnnotationAssertion( "GARD:13032"^^xsd:string) AnnotationAssertion( "MIM:614039"^^xsd:string) AnnotationAssertion( "ORDO:300570"^^xsd:string) AnnotationAssertion( "CDCBM1"^^xsd:string) AnnotationAssertion( "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090137"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex cortical dysplasia with other brain malformations 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) Annotation( "https://www.omim.org/entry/615412"^^xsd:string) "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000938"^^xsd:string) AnnotationAssertion( "MIM:615412"^^xsd:string) AnnotationAssertion( "CDCBM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090138"^^xsd:string) AnnotationAssertion(rdfs:label "complex cortical dysplasia with other brain malformations 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cortisone reductase deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22476103"^^xsd:string) "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0002041"^^xsd:string) AnnotationAssertion( "EFO:0009007"^^xsd:string) AnnotationAssertion( "GARD:9882"^^xsd:string) AnnotationAssertion( "MESH:C536447"^^xsd:string) AnnotationAssertion( "MIM:PS604931"^^xsd:string) AnnotationAssertion( "11-beta-hydroxysteroid dehydrogenase, type i, deficiency of"^^xsd:string) AnnotationAssertion( "Adrenal Androgen Excess"^^xsd:string) AnnotationAssertion( "Adrenal Hyperandrogenism"^^xsd:string) AnnotationAssertion( "CORTRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090139"^^xsd:string) AnnotationAssertion(rdfs:label "cortisone reductase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cortisone reductase deficiency 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29843121"^^xsd:string) Annotation( "https://www.omim.org/entry/614662"^^xsd:string) "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614662"^^xsd:string) AnnotationAssertion( "NCI:C131084"^^xsd:string) AnnotationAssertion( "CORTRD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090140"^^xsd:string) AnnotationAssertion(rdfs:label "cortisone reductase deficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cortisone reductase deficiency 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29843121"^^xsd:string) Annotation( "https://www.omim.org/entry/604931"^^xsd:string) "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003339"^^xsd:string) AnnotationAssertion( "MIM:604931"^^xsd:string) AnnotationAssertion( "NCI:C131849"^^xsd:string) AnnotationAssertion( "CORTRD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090141"^^xsd:string) AnnotationAssertion(rdfs:label "cortisone reductase deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cystathioninuria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20584029"^^xsd:string) Annotation( "https://www.omim.org/entry/219500"^^xsd:string) "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219500"^^xsd:string) AnnotationAssertion( "GARD:2428"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.19"^^xsd:string) AnnotationAssertion( "MESH:C535408"^^xsd:string) AnnotationAssertion( "MESH:C562680"^^xsd:string) AnnotationAssertion( "NCI:C129070"^^xsd:string) AnnotationAssertion( "ORDO:212"^^xsd:string) AnnotationAssertion( "cystathionase deficiency"^^xsd:string) AnnotationAssertion( "cystathione gamma-lyase deficiency syndrome"^^xsd:string) AnnotationAssertion( "gamma-cystathionase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090142"^^xsd:string) AnnotationAssertion(rdfs:label "cystathioninuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachyolmia-amelogenesis imperfecta syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30887145"^^xsd:string) Annotation( "https://www.omim.org/entry/601216"^^xsd:string) "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601216"^^xsd:string) AnnotationAssertion( "GARD:5478"^^xsd:string) AnnotationAssertion( "ICD10CM:Q76.3"^^xsd:string) AnnotationAssertion( "MESH:C536538"^^xsd:string) AnnotationAssertion( "MESH:C567755"^^xsd:string) AnnotationAssertion( "ORDO:2899"^^xsd:string) AnnotationAssertion( "DASS"^^xsd:string) AnnotationAssertion( "STHAG6"^^xsd:string) AnnotationAssertion( "Verloes Bourguignon syndrome"^^xsd:string) AnnotationAssertion( "dental anomalies and short stature"^^xsd:string) AnnotationAssertion( "platyspondyly with amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "selective tooth agenesis 6"^^xsd:string) AnnotationAssertion( "skeletal dysplasia with amelogenesis imperfecta and platyspondyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090143"^^xsd:string) AnnotationAssertion(rdfs:label "brachyolmia-amelogenesis imperfecta syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Donnai-Barrow syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/222448"^^xsd:string) "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222448"^^xsd:string) AnnotationAssertion( "GARD:1899"^^xsd:string) AnnotationAssertion( "MESH:C536390"^^xsd:string) AnnotationAssertion( "ORDO:2143"^^xsd:string) AnnotationAssertion( "DBS-FOAR syndrome"^^xsd:string) AnnotationAssertion( "FOAR syndrome"^^xsd:string) AnnotationAssertion( "Holmes-Schepens syndrome"^^xsd:string) AnnotationAssertion( "LRP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia-exomphalos-corpus callosum agenesis"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia-exomphalos-hypertelorism syndrome"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome"^^xsd:string) AnnotationAssertion( "facio-oculo-acoustico-renal syndrome"^^xsd:string) AnnotationAssertion( "faciooculoacousticorenal syndrome"^^xsd:string) AnnotationAssertion( "syndrome of ocular and facial anomalies, telecanthus and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090144"^^xsd:string) AnnotationAssertion(rdfs:label "Donnai-Barrow syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dopamine beta-hydroxylase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/223360"^^xsd:string) "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223360"^^xsd:string) AnnotationAssertion( "GARD:1903"^^xsd:string) AnnotationAssertion( "MESH:C535600"^^xsd:string) AnnotationAssertion( "ORDO:230"^^xsd:string) AnnotationAssertion( "ORTHYP1"^^xsd:string) AnnotationAssertion( "congenital dopamine beta hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "dopamine b-hydroxylase"^^xsd:string) AnnotationAssertion( "noradrenaline deficiency"^^xsd:string) AnnotationAssertion( "norepinephrine deficiency"^^xsd:string) AnnotationAssertion( "orthostatic hypotension 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0090145"^^xsd:string) AnnotationAssertion(rdfs:label "dopamine beta-hydroxylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16055927"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610198"^^xsd:string) AnnotationAssertion( "RDO:0014268"^^xsd:string) AnnotationAssertion( "MESH:C565706"^^xsd:string) AnnotationAssertion( "NCI:C173146"^^xsd:string) AnnotationAssertion( "ORDO:66634"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type V"^^xsd:string) AnnotationAssertion( "DCMA"^^xsd:string) AnnotationAssertion( "DCMA syndrome"^^xsd:string) AnnotationAssertion( "MGA type V"^^xsd:string) AnnotationAssertion( "MGA5"^^xsd:string) AnnotationAssertion( "MGCA5"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110000"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22683713"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000156"^^xsd:string) AnnotationAssertion( "MIM:614739"^^xsd:string) AnnotationAssertion( "ORDO:352328"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type 6"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VI"^^xsd:string) AnnotationAssertion( "MEGDEL"^^xsd:string) AnnotationAssertion( "MEGDEL syndrome"^^xsd:string) AnnotationAssertion( "MGCA6"^^xsd:string) AnnotationAssertion( "SERAC1-RELATED NEUROLOGICAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110001"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12434311/"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250950"^^xsd:string) AnnotationAssertion( "MESH:C562801"^^xsd:string) AnnotationAssertion( "ORDO:67046"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type I"^^xsd:string) AnnotationAssertion( "3-methylglutaconyl-CoA hydratase deficiency"^^xsd:string) AnnotationAssertion( "3MG-CoA hydratase deficiency"^^xsd:string) AnnotationAssertion( "MGA type I"^^xsd:string) AnnotationAssertion( "MGA1"^^xsd:string) AnnotationAssertion( "MGCA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110002"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25597510"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009014"^^xsd:string) AnnotationAssertion( "ORDO:445038"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type 7"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VII"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type VII, with cataracts, neurologic involvement and neutropenia"^^xsd:string) AnnotationAssertion( "MEGCANN"^^xsd:string) AnnotationAssertion( "MGA7"^^xsd:string) AnnotationAssertion( "MGCA7"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110003"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11668429"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12126933"^^xsd:string) "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258501"^^xsd:string) AnnotationAssertion( "MESH:C535311"^^xsd:string) AnnotationAssertion( "ORDO:67047"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria, type III"^^xsd:string) AnnotationAssertion( "Costeff optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "Costeff syndrome"^^xsd:string) AnnotationAssertion( "Iraqi Jewish optic atrophy plus"^^xsd:string) AnnotationAssertion( "MGA, type III"^^xsd:string) AnnotationAssertion( "MGA3"^^xsd:string) AnnotationAssertion( "MGCA3"^^xsd:string) AnnotationAssertion( "OPA3, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Optic Atrophy 3, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "autosomal recessive optic atrophy plus syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive optic atrophy type 3"^^xsd:string) AnnotationAssertion( "infantile optic atrophy with chorea and spastic paraplegia"^^xsd:string) AnnotationAssertion( "optic atrophy plus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110004"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22842230"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536603"^^xsd:string) AnnotationAssertion( "MIM:608553"^^xsd:string) AnnotationAssertion( "MONDO:0012056"^^xsd:string) AnnotationAssertion( "LCA9"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis, type 9"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber, type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110005"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-methylglutaconic aciduria type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21646875"^^xsd:string) "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250951"^^xsd:string) AnnotationAssertion( "RDO:0014040"^^xsd:string) AnnotationAssertion( "MESH:C565393"^^xsd:string) AnnotationAssertion( "ORDO:67048"^^xsd:string) AnnotationAssertion( "3-methylglutaconic aciduria type IV"^^xsd:string) AnnotationAssertion( "MGA Type IV"^^xsd:string) AnnotationAssertion( "MGA4"^^xsd:string) AnnotationAssertion( "MGCA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110006"^^xsd:string) AnnotationAssertion(rdfs:label "3-methylglutaconic aciduria type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (achromatopsia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11536077"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9662398"^^xsd:string) "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:216900"^^xsd:string) AnnotationAssertion( "OMIA:001481"^^xsd:string) AnnotationAssertion( "GARD:9649"^^xsd:string) AnnotationAssertion( "MESH:C536128"^^xsd:string) AnnotationAssertion( "NCI:C168757"^^xsd:string) AnnotationAssertion( "ACHM2"^^xsd:string) AnnotationAssertion( "RMCH2"^^xsd:string) AnnotationAssertion( "Rod monochromacy 2"^^xsd:string) AnnotationAssertion( "Rod monochromatism 2"^^xsd:string) AnnotationAssertion( "total color blindness"^^xsd:string) AnnotationAssertion( "total colorblindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110007"^^xsd:string) AnnotationAssertion(rdfs:label "achromatopsia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (achromatopsia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10888875"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17265047"^^xsd:string) "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262300"^^xsd:string) AnnotationAssertion( "OMIA:001365"^^xsd:string) AnnotationAssertion( "OMIA:001676"^^xsd:string) AnnotationAssertion( "GARD:9650"^^xsd:string) AnnotationAssertion( "MESH:C536129"^^xsd:string) AnnotationAssertion( "ACHM 3"^^xsd:string) AnnotationAssertion( "ACHM1"^^xsd:string) AnnotationAssertion( "ACHM3"^^xsd:string) AnnotationAssertion( "Achromatopsia (cone degeneration, hemeralopia)"^^xsd:string) AnnotationAssertion( "Achromatopsia with myopia"^^xsd:string) AnnotationAssertion( "Pingelapese"^^xsd:string) AnnotationAssertion( "Pingelapese Blindness"^^xsd:string) AnnotationAssertion( "RMCH1"^^xsd:string) AnnotationAssertion( "ROD MONOCHROMACY 1"^^xsd:string) AnnotationAssertion( "ROD MONOCHROMATISM 1"^^xsd:string) AnnotationAssertion( "total colorblindness with myopia"^^xsd:string) AnnotationAssertion( "AMAL"^^xsd:string) AnnotationAssertion( "GSPT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110008"^^xsd:string) AnnotationAssertion(rdfs:label "achromatopsia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (achromatopsia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26029869"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26063662"^^xsd:string) "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616517"^^xsd:string) AnnotationAssertion( "ACHM7"^^xsd:string) AnnotationAssertion( "ATF6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110009"^^xsd:string) AnnotationAssertion(rdfs:label "achromatopsia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (achromatopsia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12205108"^^xsd:string) "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613856"^^xsd:string) AnnotationAssertion( "MESH:C564206"^^xsd:string) AnnotationAssertion( "ACHM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110010"^^xsd:string) AnnotationAssertion(rdfs:label "achromatopsia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (advanced sleep phase syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11232563"^^xsd:string) "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604348"^^xsd:string) AnnotationAssertion( "MESH:C565789"^^xsd:string) AnnotationAssertion( "FASPS1"^^xsd:string) AnnotationAssertion( "familial advanced sleep phase syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110011"^^xsd:string) AnnotationAssertion(rdfs:label "advanced sleep phase syndrome 1"^^xsd:string) SubClassOf( ) # Class: (advanced sleep phase syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15800623"^^xsd:string) "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615224"^^xsd:string) AnnotationAssertion( "FASPS2"^^xsd:string) AnnotationAssertion( "familial advanced sleep phase syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110012"^^xsd:string) AnnotationAssertion(rdfs:label "advanced sleep phase syndrome 2"^^xsd:string) SubClassOf( ) # Class: (advanced sleep phase syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26903630"^^xsd:string) "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616882"^^xsd:string) AnnotationAssertion( "FASPS3"^^xsd:string) AnnotationAssertion( "familial advanced sleep phase syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110013"^^xsd:string) AnnotationAssertion(rdfs:label "advanced sleep phase syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (age related macular degeneration 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14570714"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9715689"^^xsd:string) "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603075"^^xsd:string) AnnotationAssertion( "MESH:C566411"^^xsd:string) AnnotationAssertion( "ARMD1"^^xsd:string) AnnotationAssertion( "age related maculopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOE2 Isoforms"^^xsd:string) AnnotationAssertion( "DOID:0110014"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 1"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10396622"^^xsd:string) "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153800"^^xsd:string) AnnotationAssertion( "MESH:C562479"^^xsd:string) AnnotationAssertion( "ARMD2"^^xsd:string) AnnotationAssertion( "age related maculopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "age related macular degeneration 2, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110015"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 2"^^xsd:string) SubClassOf( ) # Class: (Leber congenital amaurosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326927"^^xsd:string) "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204100"^^xsd:string) AnnotationAssertion( "OMIA:001222"^^xsd:string) AnnotationAssertion( "RPE65-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C536601"^^xsd:string) AnnotationAssertion( "MONDO:0008765"^^xsd:string) AnnotationAssertion( "EARLY-ONSET RETINAL DYSTROPHY"^^xsd:string) AnnotationAssertion( "LCA2"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis type 2"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis type II"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110016"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (age related macular degeneration 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15761120"^^xsd:string) "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610698"^^xsd:string) AnnotationAssertion( "MESH:C565196"^^xsd:string) AnnotationAssertion( "NCI:C174215"^^xsd:string) AnnotationAssertion( "ARMD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110017"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 4"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15028672"^^xsd:string) "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613757"^^xsd:string) AnnotationAssertion( "MESH:C563674"^^xsd:string) AnnotationAssertion( "ARMD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110018"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 6"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17053108"^^xsd:string) "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610149"^^xsd:string) AnnotationAssertion( "MESH:C565718"^^xsd:string) AnnotationAssertion( "ARMD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE"^^xsd:string) AnnotationAssertion( "MACULAR DEGENERATION, AGE-RELATED, WET TYPE"^^xsd:string) AnnotationAssertion( "MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "age-related macular degeneration, neovascular type, susceptibility"^^xsd:string) AnnotationAssertion( "susceptibility to neovascular type of age-related macular degeneration"^^xsd:string) AnnotationAssertion( "DOID:0110019"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 7"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17210852"^^xsd:string) "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613778"^^xsd:string) AnnotationAssertion( "ARMD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110020"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (age related macular degeneration 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24036952"^^xsd:string) "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611378"^^xsd:string) AnnotationAssertion( "MESH:C566958"^^xsd:string) AnnotationAssertion( "ARMD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "C3S/C3F POLYMORPHISM"^^xsd:string) AnnotationAssertion( "age related macular degeneration 9, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110021"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 9"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14691731"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15829498"^^xsd:string) "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611488"^^xsd:string) AnnotationAssertion( "MESH:C566935"^^xsd:string) AnnotationAssertion( "ARMD10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "age related macular degeneration 10, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110022"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 10"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11815350"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25893795"^^xsd:string) "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611953"^^xsd:string) AnnotationAssertion( "MESH:C567450"^^xsd:string) AnnotationAssertion( "ARMD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110023"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 11"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15208270"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17909628"^^xsd:string) "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613784"^^xsd:string) AnnotationAssertion( "ARMD12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110024"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 12"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23685748"^^xsd:string) "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615439"^^xsd:string) AnnotationAssertion( "NCI:C187704"^^xsd:string) AnnotationAssertion( "ARMD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "age-related macular degeneration 13, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110025"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 13"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16518403"^^xsd:string) "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "C2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615489"^^xsd:string) AnnotationAssertion( "ARMD14"^^xsd:string) AnnotationAssertion( "MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110026"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 14"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24036952"^^xsd:string) "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. (DO)"^^xsd:string) AnnotationAssertion( "C9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615591"^^xsd:string) AnnotationAssertion( "ARMD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110027"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 15"^^xsd:string) SubClassOf( ) # Class: (age related macular degeneration 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16754848"^^xsd:string) "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613761"^^xsd:string) AnnotationAssertion( "ARMD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110028"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration 5"^^xsd:string) SubClassOf( ) # Class: (alpha thalassemia-intellectual disability syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15921166"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18076105"^^xsd:string) "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. (DO)"^^xsd:string) AnnotationAssertion( "MIM:141750"^^xsd:string) AnnotationAssertion( "MESH:C563050"^^xsd:string) AnnotationAssertion( "ORDO:98791"^^xsd:string) AnnotationAssertion( "ATR syndrome linked to chromosome 16"^^xsd:string) AnnotationAssertion( "ATR syndrome, deletion type"^^xsd:string) AnnotationAssertion( "ATR, deletion-type"^^xsd:string) AnnotationAssertion( "ATR-16 syndrome"^^xsd:string) AnnotationAssertion( "Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type"^^xsd:string) AnnotationAssertion( "CHROMOSOME 16p DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "HBHR"^^xsd:string) AnnotationAssertion( "alpha thalassemia-intellectual disability syndrome, deletion type"^^xsd:string) AnnotationAssertion( "alpha thalassemia-retardation syndrome"^^xsd:string) AnnotationAssertion( "alpha thalassemia/impaired intellectual development syndrome, deletion type"^^xsd:string) AnnotationAssertion( "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"^^xsd:string) AnnotationAssertion( "alpha-thalassemia/mental retardation syndrome, chromosome 16-related"^^xsd:string) AnnotationAssertion( "alpha-thalassemia/mental retardation syndrome, type 1"^^xsd:string) AnnotationAssertion( "hemoglobin H-related mental retardation"^^xsd:string) AnnotationAssertion( "mental retardation with hemoglobin H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110029"^^xsd:string) AnnotationAssertion(rdfs:label "alpha thalassemia-intellectual disability syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alpha thalassemia-X-linked intellectual disability syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1415255"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7697714"^^xsd:string) "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301040"^^xsd:string) AnnotationAssertion( "ATRX-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:5864"^^xsd:string) AnnotationAssertion( "ICD10CM:D56.0"^^xsd:string) AnnotationAssertion( "MESH:C538258"^^xsd:string) AnnotationAssertion( "NCI:C118631"^^xsd:string) AnnotationAssertion( "ORDO:847"^^xsd:string) AnnotationAssertion( "ATR non deletion type"^^xsd:string) AnnotationAssertion( "ATR, nondeletion type"^^xsd:string) AnnotationAssertion( "ATR-X syndrome"^^xsd:string) AnnotationAssertion( "ATR-X-RELATED SYNDROME"^^xsd:string) AnnotationAssertion( "ATRX"^^xsd:string) AnnotationAssertion( "ATRX syndrome"^^xsd:string) AnnotationAssertion( "Alpha-thalassemia X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-linked alpha-thalassemia/impaired intellectual development syndrome"^^xsd:string) AnnotationAssertion( "XLMR-hypotonic face syndrome"^^xsd:string) AnnotationAssertion( "alpha-thalassemia mental retardation syndrome, non deletion type, X-linked"^^xsd:string) AnnotationAssertion( "alpha-thalassemia-mental retardation syndrome, nondeletion type"^^xsd:string) AnnotationAssertion( "alpha-thalassemia-mental retardation syndrome, nondeletion type, X-linked"^^xsd:string) AnnotationAssertion( "alpha-thalassemia-mental retardation, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110030"^^xsd:string) AnnotationAssertion(rdfs:label "alpha thalassemia-X-linked intellectual disability syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemoglobin H disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12393486"^^xsd:string) "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613978"^^xsd:string) AnnotationAssertion( "ORDO:93616"^^xsd:string) AnnotationAssertion( "HBH"^^xsd:string) AnnotationAssertion( "Hb H disease"^^xsd:string) AnnotationAssertion( "alpha thalassemia, haemoglobin H type"^^xsd:string) AnnotationAssertion( "alpha thalassemia, hemoglobin H type"^^xsd:string) AnnotationAssertion( "alpha-thalassemia intermedia"^^xsd:string) AnnotationAssertion( "haemoglobin H disease"^^xsd:string) AnnotationAssertion( "haemoglobin H disease, deletional"^^xsd:string) AnnotationAssertion( "hemoglobin H disease, deletional"^^xsd:string) AnnotationAssertion( "hemoglobin H disease, nondeletional"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110031"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobin H disease"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant Alport syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11044206"^^xsd:string) "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:104200"^^xsd:string) AnnotationAssertion( "GARD:624"^^xsd:string) AnnotationAssertion( "MESH:C536586"^^xsd:string) AnnotationAssertion( "ORDO:88918"^^xsd:string) AnnotationAssertion( "ATS3A"^^xsd:string) AnnotationAssertion( "Alport syndrome 3A, autosomal dominant"^^xsd:string) AnnotationAssertion( "renal failure, and sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ATS3"^^xsd:string) AnnotationAssertion( "Alport syndrome 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "DOID:0110032"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Alport syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive Alport syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25575550"^^xsd:string) "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203780"^^xsd:string) AnnotationAssertion( "MIM:620536"^^xsd:string) AnnotationAssertion( "COL4A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:625"^^xsd:string) AnnotationAssertion( "MESH:C536587"^^xsd:string) AnnotationAssertion( "MONDO:0008762"^^xsd:string) AnnotationAssertion( "ORDO:88919"^^xsd:string) AnnotationAssertion( "ATS2"^^xsd:string) AnnotationAssertion( "ATS3B"^^xsd:string) AnnotationAssertion( "Alport syndrome 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "Alport syndrome 3B, autosomal recessive"^^xsd:string) AnnotationAssertion( "Alport syndrome type 2"^^xsd:string) AnnotationAssertion( "Alport syndrome-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110033"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive Alport syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked Alport syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2349482"^^xsd:string) "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001112"^^xsd:string) AnnotationAssertion( "MIM:301050"^^xsd:string) AnnotationAssertion( "ORDO:88917"^^xsd:string) AnnotationAssertion( "ALPORT SYNDROME 1, X-LINKED RECESSIVE"^^xsd:string) AnnotationAssertion( "ATS"^^xsd:string) AnnotationAssertion( "ATS1"^^xsd:string) AnnotationAssertion( "COL4A5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked Alport syndrome-1"^^xsd:string) AnnotationAssertion( "X-linked nephritis"^^xsd:string) AnnotationAssertion( "nephropathy and deafness, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110034"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Alport syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8346443"^^xsd:string) "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. (DO)"^^xsd:string) AnnotationAssertion( "MIM:104310"^^xsd:string) AnnotationAssertion( "MESH:C536595"^^xsd:string) AnnotationAssertion( "AD2"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 2"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 2, Late-Onset"^^xsd:string) AnnotationAssertion( "Alzheimer Disease Associated With Apoe4"^^xsd:string) AnnotationAssertion( "Alzheimer Disease Type 2"^^xsd:string) AnnotationAssertion( "Alzheimer disease associated with APOE E4"^^xsd:string) AnnotationAssertion( "Alzheimer's Disease Type 2"^^xsd:string) AnnotationAssertion( "late-onset familial Alzheimer disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BCHE, K VARIANT"^^xsd:string) AnnotationAssertion( "CHE*539T"^^xsd:string) AnnotationAssertion( "DOID:0110035"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19136949"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300756"^^xsd:string) AnnotationAssertion( "MESH:C567463"^^xsd:string) AnnotationAssertion( "RDO:0015527"^^xsd:string) AnnotationAssertion( "AD16"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 16"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 16, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110036"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9333264"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602096"^^xsd:string) AnnotationAssertion( "RDO:0014894"^^xsd:string) AnnotationAssertion( "MESH:C566578"^^xsd:string) AnnotationAssertion( "AD5"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 5"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Familial, 5"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 5, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110037"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16385451"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605526"^^xsd:string) AnnotationAssertion( "RDO:0013995"^^xsd:string) AnnotationAssertion( "MESH:C565325"^^xsd:string) AnnotationAssertion( "AD6"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 6"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 6, Late-Onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110038"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 6"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11443525"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606187"^^xsd:string) AnnotationAssertion( "MESH:C565251"^^xsd:string) AnnotationAssertion( "RDO:0013945"^^xsd:string) AnnotationAssertion( "AD7"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 7"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Familial, 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110039"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 7"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12925374"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7638622"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7651536"^^xsd:string) "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606889"^^xsd:string) AnnotationAssertion( "MESH:C536596"^^xsd:string) AnnotationAssertion( "NCI:C123413"^^xsd:string) AnnotationAssertion( "AD4"^^xsd:string) AnnotationAssertion( "Alzheimer disease 4"^^xsd:string) AnnotationAssertion( "Alzheimer disease type 4"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 4"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, type 4"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial4"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 4, early onset"^^xsd:string) AnnotationAssertion( "Alzheimer's disease type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110040"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9008509"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607116"^^xsd:string) AnnotationAssertion( "MESH:C564622"^^xsd:string) AnnotationAssertion( "AD8"^^xsd:string) AnnotationAssertion( "Alzheimer disease 8"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 8"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 8, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110041"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 8"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1303290"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7596406"^^xsd:string) "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607822"^^xsd:string) AnnotationAssertion( "MESH:C536598"^^xsd:string) AnnotationAssertion( "NCI:C123412"^^xsd:string) AnnotationAssertion( "AD3"^^xsd:string) AnnotationAssertion( "Alzheimer disease 3"^^xsd:string) AnnotationAssertion( "Alzheimer disease 3, early-onset"^^xsd:string) AnnotationAssertion( "Alzheimer disease familial 3"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, type 3"^^xsd:string) AnnotationAssertion( "Alzheimer disease, type 3"^^xsd:string) AnnotationAssertion( "EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110042"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16175510"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609636"^^xsd:string) AnnotationAssertion( "ICD10CM:G30"^^xsd:string) AnnotationAssertion( "MESH:C566465"^^xsd:string) AnnotationAssertion( "AD10"^^xsd:string) AnnotationAssertion( "Alzheimer disease 10"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial 10"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 10, early onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110043"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 10"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18761660"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609790"^^xsd:string) AnnotationAssertion( "MESH:C565228"^^xsd:string) AnnotationAssertion( "AD11"^^xsd:string) AnnotationAssertion( "Alzheimer disease 11"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial 11"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 11, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110044"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 11"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16825432"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611073"^^xsd:string) AnnotationAssertion( "MESH:C567022"^^xsd:string) AnnotationAssertion( "AD12"^^xsd:string) AnnotationAssertion( "Alzheimer disease 12"^^xsd:string) AnnotationAssertion( "Alzheimer disease familial 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110045"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 12"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564960"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611152"^^xsd:string) AnnotationAssertion( "MESH:C567000"^^xsd:string) AnnotationAssertion( "AD13"^^xsd:string) AnnotationAssertion( "Alzheimer disease 13"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 13, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110046"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 13"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564960"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611154"^^xsd:string) AnnotationAssertion( "MESH:C566999"^^xsd:string) AnnotationAssertion( "AD14"^^xsd:string) AnnotationAssertion( "Alzheimer disease 14"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 14, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110047"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 14"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564960"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536599"^^xsd:string) AnnotationAssertion( "MIM:604154"^^xsd:string) AnnotationAssertion( "GARD:7190"^^xsd:string) AnnotationAssertion( "MESH:C566998"^^xsd:string) AnnotationAssertion( "AD15"^^xsd:string) AnnotationAssertion( "Alzheimer disease 15"^^xsd:string) AnnotationAssertion( "Alzheimer disease without neurofibrillary tangles"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 15, late onset"^^xsd:string) AnnotationAssertion( "Alzheimer's disease without Tau pathology"^^xsd:string) AnnotationAssertion( "Alzheimer's disease without neurofibrillary tangles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110048"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 15"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23150934"^^xsd:string) "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615080"^^xsd:string) AnnotationAssertion( "NCI:C169104"^^xsd:string) AnnotationAssertion( "RDO:9001837"^^xsd:string) AnnotationAssertion( "AD17"^^xsd:string) AnnotationAssertion( "Alzheimer disease 17"^^xsd:string) AnnotationAssertion( "Alzheimer disease 17, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110049"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 17"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19608551"^^xsd:string) "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615590"^^xsd:string) AnnotationAssertion( "AD18"^^xsd:string) AnnotationAssertion( "Alzheimer disease 18"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 18, late onset"^^xsd:string) AnnotationAssertion( "late-onset Alzheimer disease-18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110050"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 18"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24336208"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25832408"^^xsd:string) "An Alzheimer's disease that is characterized by associated variants of the gene PLD3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615711"^^xsd:string) AnnotationAssertion( "RDO:9001334"^^xsd:string) AnnotationAssertion( "AD19"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 19"^^xsd:string) AnnotationAssertion( "Alzheimer disease 19 late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0110051"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 19"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta type 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11487571"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562879"^^xsd:string) AnnotationAssertion( "MIM:104500"^^xsd:string) AnnotationAssertion( "MONDO:0007092"^^xsd:string) AnnotationAssertion( "AI1B"^^xsd:string) AnnotationAssertion( "AIH2"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IB"^^xsd:string) AnnotationAssertion( "hereditary localized enamel hypoplasia"^^xsd:string) AnnotationAssertion( "hypoplastic local amelogenesis imperfecta, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, dominant"^^xsd:string) AnnotationAssertion( "DOID:0110052"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15666299"^^xsd:string) "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:104510"^^xsd:string) AnnotationAssertion( "RDO:0014687"^^xsd:string) AnnotationAssertion( "MESH:C566293"^^xsd:string) AnnotationAssertion( "AI4"^^xsd:string) AnnotationAssertion( "AIHHT"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110053"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23632796"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23958762"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:104530"^^xsd:string) AnnotationAssertion( "RDO:0004192"^^xsd:string) AnnotationAssertion( "MESH:C538240"^^xsd:string) AnnotationAssertion( "AI1A"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA, TYPE IA"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta Local Hypoplastic Form"^^xsd:string) AnnotationAssertion( "Hypoplastic type amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "Local, hypoplastic type of amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "generalized microdontia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110054"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252228"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18484629"^^xsd:string) "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130900"^^xsd:string) AnnotationAssertion( "MESH:C562880"^^xsd:string) AnnotationAssertion( "ADHCAI"^^xsd:string) AnnotationAssertion( "AI3A"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta hypomineralization type"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIIA"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypocalcification type, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110055"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14684688"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). (DO)"^^xsd:string) AnnotationAssertion( "MIM:204650"^^xsd:string) AnnotationAssertion( "MESH:C567147"^^xsd:string) AnnotationAssertion( "AI1C"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IC"^^xsd:string) AnnotationAssertion( "hypoplastic amelogenesis imperfecta, with or without openbite malocclusion, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, recessive"^^xsd:string) AnnotationAssertion( "DOID:0110056"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 2A1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15235027"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23355523"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538242"^^xsd:string) AnnotationAssertion( "MIM:204700"^^xsd:string) AnnotationAssertion( "GARD:9495"^^xsd:string) AnnotationAssertion( "MESH:C567146"^^xsd:string) AnnotationAssertion( "AI2A1"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta pigmented hypomaturation type"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta pigmented hypomaturation type 1"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIA1"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypomaturation type, IIA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110057"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 2A1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1E) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta"^^xsd:string) Annotation( "https://www.omim.org/entry/301200"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)"^^xsd:string) AnnotationAssertion( "MIM:301200"^^xsd:string) AnnotationAssertion( "X-linked enamel hypoplasia"^^xsd:string) AnnotationAssertion( "MESH:C538243"^^xsd:string) AnnotationAssertion( "MESH:C564463"^^xsd:string) AnnotationAssertion( "AI1E"^^xsd:string) AnnotationAssertion( "AIH1"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1"^^xsd:string) AnnotationAssertion( "Amelogenesis Imperfecta, Type 1E, with Snow-Capped Teeth"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta hypomaturationtype with snow-capped teeth"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IE"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, X-linked 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110058"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1358807"^^xsd:string) "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. (DO)"^^xsd:string) AnnotationAssertion( "X-linked enamel hypoplasia"^^xsd:string) AnnotationAssertion( "MIM:301201"^^xsd:string) AnnotationAssertion( "AIH3"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IE X-linked 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110059"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta hypomaturation type 2A2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15744043"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)"^^xsd:string) AnnotationAssertion( "MIM:612529"^^xsd:string) AnnotationAssertion( "RDO:0015395"^^xsd:string) AnnotationAssertion( "MESH:C567279"^^xsd:string) AnnotationAssertion( "Ai2a2"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta hypomaturation type IIA2"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIA2"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, pigmented hypomaturation type, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110060"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta hypomaturation type 2A2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta hypomaturation type 2A3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19853237"^^xsd:string) "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613211"^^xsd:string) AnnotationAssertion( "MESH:C567706"^^xsd:string) AnnotationAssertion( "AI2A3"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta hypomaturation type IIA3"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110061"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta hypomaturation type 2A3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta hypomaturation type 2A4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22901946"^^xsd:string) "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000167"^^xsd:string) AnnotationAssertion( "MIM:614832"^^xsd:string) AnnotationAssertion( "AI2A4"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIA4"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypomaturation type IIA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110062"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta hypomaturation type 2A4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta hypomaturation type 2A5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23375655"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615887"^^xsd:string) AnnotationAssertion( "AI2A5"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIA5"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypomaturation type, IIA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110063"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta hypomaturation type 2A5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24305999"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24319098"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001338"^^xsd:string) AnnotationAssertion( "ICD10CM:K00.5"^^xsd:string) AnnotationAssertion( "MIM:616221"^^xsd:string) AnnotationAssertion( "AI1H"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110064"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1H"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24858907"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616270"^^xsd:string) AnnotationAssertion( "MONDO:0014560"^^xsd:string) AnnotationAssertion( "AI1F"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IF"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypoplastic type 1F"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypoplastic type IF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110065"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amelogenesis imperfecta type 1G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23468644"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24196488"^^xsd:string) "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204690"^^xsd:string) AnnotationAssertion( "MESH:C538241"^^xsd:string) AnnotationAssertion( "ORDO:1031"^^xsd:string) AnnotationAssertion( "AI1G"^^xsd:string) AnnotationAssertion( "AIGFS"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS"^^xsd:string) AnnotationAssertion( "ERS"^^xsd:string) AnnotationAssertion( "absent enamel, nephrocalcinosis and apparently normal calcium metabolism"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta nephrocalcinosis"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IG"^^xsd:string) AnnotationAssertion( "enamel renal syndrome"^^xsd:string) AnnotationAssertion( "enamel-renal-gingival syndrome"^^xsd:string) AnnotationAssertion( "generalized enamel hypoplasia and renal dysfunction"^^xsd:string) AnnotationAssertion( "hypoplastic amelogenesis imperfecta and nephrocalcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110066"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 1G"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (juvenile amyotrophic lateral sclerosis with dementia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5692341"^^xsd:string) "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:205200"^^xsd:string) AnnotationAssertion( "RDO:0014456"^^xsd:string) AnnotationAssertion( "MESH:C565956"^^xsd:string) AnnotationAssertion( "ALS-Dementia Complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110067"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile amyotrophic lateral sclerosis with dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22084127"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616437"^^xsd:string) AnnotationAssertion( "FTDALS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110068"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25700176"^^xsd:string) "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616439"^^xsd:string) AnnotationAssertion( "FTDALS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110069"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15639475"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107970"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.8"^^xsd:string) AnnotationAssertion( "ICD10CM:Q24.8"^^xsd:string) AnnotationAssertion( "MESH:C566254"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 1"^^xsd:string) AnnotationAssertion( "ARVC1"^^xsd:string) AnnotationAssertion( "ARVD1"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "UHL ANOMALY"^^xsd:string) AnnotationAssertion( "right ventricular dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "DOID:0110070"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (arrhythmogenic right ventricular dysplasia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8824801"^^xsd:string) "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602086"^^xsd:string) AnnotationAssertion( "MESH:C566584"^^xsd:string) AnnotationAssertion( "ARVC3"^^xsd:string) AnnotationAssertion( "ARVD3"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Cardiomyopathy 3"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110072"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9344647"^^xsd:string) "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602087"^^xsd:string) AnnotationAssertion( "MESH:C566583"^^xsd:string) AnnotationAssertion( "ARVC4"^^xsd:string) AnnotationAssertion( "ARVD4"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 4"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110073"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18313022"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604400"^^xsd:string) AnnotationAssertion( "RDO:0014323"^^xsd:string) AnnotationAssertion( "MESH:C565776"^^xsd:string) AnnotationAssertion( "NCI:C173470"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 5"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, TYPE 5"^^xsd:string) AnnotationAssertion( "ARVC5"^^xsd:string) AnnotationAssertion( "ARVD5"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Cardiomyopathy 5"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110074"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10631146"^^xsd:string) "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604401"^^xsd:string) AnnotationAssertion( "MESH:C565775"^^xsd:string) AnnotationAssertion( "RDO:0014322"^^xsd:string) AnnotationAssertion( "ARVC6"^^xsd:string) AnnotationAssertion( "ARVD6"^^xsd:string) AnnotationAssertion( "Arrhythmogenic Right Ventricular Cardiomyopathy 6"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110075"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 6"^^xsd:string) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12373648"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607450"^^xsd:string) AnnotationAssertion( "MESH:C564400"^^xsd:string) AnnotationAssertion( "ARVC8"^^xsd:string) AnnotationAssertion( "ARVD8"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 8"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy, type 8"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110076"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15489853"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609040"^^xsd:string) AnnotationAssertion( "MESH:C563808"^^xsd:string) AnnotationAssertion( "NCI:C173471"^^xsd:string) AnnotationAssertion( "ARVC9"^^xsd:string) AnnotationAssertion( "ARVD9"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 9"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy, type 9"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110077"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8944027"^^xsd:string) "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204000"^^xsd:string) AnnotationAssertion( "MESH:C536600"^^xsd:string) AnnotationAssertion( "CRB"^^xsd:string) AnnotationAssertion( "LCA1"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis, type 1"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber I"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110078"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11231775"^^xsd:string) "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613835"^^xsd:string) AnnotationAssertion( "LCA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110079"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17186464"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565697"^^xsd:string) AnnotationAssertion( "MIM:610612"^^xsd:string) AnnotationAssertion( "OMIA:001260"^^xsd:string) AnnotationAssertion( "LCA12"^^xsd:string) AnnotationAssertion( "Rod-cone dysplasia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110080"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16505173"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17105751"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610193"^^xsd:string) AnnotationAssertion( "DSG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565707"^^xsd:string) AnnotationAssertion( "MONDO:0012434"^^xsd:string) AnnotationAssertion( "NCI:C177248"^^xsd:string) AnnotationAssertion( "ARVC10"^^xsd:string) AnnotationAssertion( "ARVD10"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 10"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy, type 10"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110081"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17033975"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610476"^^xsd:string) AnnotationAssertion( "MESH:C566471"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11"^^xsd:string) AnnotationAssertion( "ARVC11"^^xsd:string) AnnotationAssertion( "ARVD11"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 11"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 11, and mild palmoplantar keratoderma with or without woolly hair"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110082"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 11"^^xsd:string) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17924338/"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611528"^^xsd:string) AnnotationAssertion( "MESH:C566925"^^xsd:string) AnnotationAssertion( "ARVC12"^^xsd:string) AnnotationAssertion( "ARVD12"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 12"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110083"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arrhythmogenic right ventricular dysplasia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23136403"^^xsd:string) "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615616"^^xsd:string) AnnotationAssertion( "NCI:C176008"^^xsd:string) AnnotationAssertion( "ARVC13"^^xsd:string) AnnotationAssertion( "ARVD13"^^xsd:string) AnnotationAssertion( "arrhythmogenic right ventricular cardiomyopathy 13"^^xsd:string) AnnotationAssertion( "familial arrhythmogenic right ventricular dysplasia 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110084"^^xsd:string) AnnotationAssertion(rdfs:label "arrhythmogenic right ventricular dysplasia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20503315"^^xsd:string) "An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208500"^^xsd:string) AnnotationAssertion( "MESH:C537571"^^xsd:string) AnnotationAssertion( "ATD1"^^xsd:string) AnnotationAssertion( "SRTD1"^^xsd:string) AnnotationAssertion( "asphyxiating thoracic chondrodystrophy"^^xsd:string) AnnotationAssertion( "asphyxiating thoracic dysplasia"^^xsd:string) AnnotationAssertion( "chondroectodermal dysplasia-like syndrome"^^xsd:string) AnnotationAssertion( "infantile thoracic dystrophy"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 1 with or without polydactyly"^^xsd:string) AnnotationAssertion( "thoracic asphyxiant dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110085"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17468754"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611263"^^xsd:string) AnnotationAssertion( "MESH:C566982"^^xsd:string) AnnotationAssertion( "ATD2"^^xsd:string) AnnotationAssertion( "SRTD2"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 2 with or without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110086"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19442771"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050549"^^xsd:string) AnnotationAssertion( "MIM:613091"^^xsd:string) AnnotationAssertion( "DYNC2H1-related condition"^^xsd:string) AnnotationAssertion( "DYNC2H1-related disorder"^^xsd:string) AnnotationAssertion( "GARD:4834"^^xsd:string) AnnotationAssertion( "GARD:4835"^^xsd:string) AnnotationAssertion( "MESH:C537602"^^xsd:string) AnnotationAssertion( "NCI:C163755"^^xsd:string) AnnotationAssertion( "ORDO:93270"^^xsd:string) AnnotationAssertion( "ATD3"^^xsd:string) AnnotationAssertion( "SRPS type 1"^^xsd:string) AnnotationAssertion( "SRPS1"^^xsd:string) AnnotationAssertion( "SRPS2B"^^xsd:string) AnnotationAssertion( "SRPS3"^^xsd:string) AnnotationAssertion( "SRTD3"^^xsd:string) AnnotationAssertion( "Saldino-Noonan syndrome"^^xsd:string) AnnotationAssertion( "Verma-Naumoff syndrome"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type 1"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type 3"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type I"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type III"^^xsd:string) AnnotationAssertion( "short rib polydactyly syndrome type 1"^^xsd:string) AnnotationAssertion( "short rib polydactyly syndrome, Saldino Noonan type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, Verma-Naumoff type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, type I"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, type IIB"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, type III"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 3 with or without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110087"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21258341"^^xsd:string) "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "TTC21B-related disorder"^^xsd:string) AnnotationAssertion( "MIM:613819"^^xsd:string) AnnotationAssertion( "ATD4"^^xsd:string) AnnotationAssertion( "SRTD4"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 4 with or without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110088"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (asphyxiating thoracic dystrophy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22019273"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614376"^^xsd:string) AnnotationAssertion( "MONDO:0013717"^^xsd:string) AnnotationAssertion( "ATD5"^^xsd:string) AnnotationAssertion( "SRTD5"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 5 with or without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110089"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxiating thoracic dystrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 7 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17935248"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21473986"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)"^^xsd:string) AnnotationAssertion( "WDR35-related disorder"^^xsd:string) AnnotationAssertion( "MIM:614091"^^xsd:string) AnnotationAssertion( "SRPS5"^^xsd:string) AnnotationAssertion( "SRTD7"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome 5"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome type V"^^xsd:string) AnnotationAssertion( "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 7 with polydactyly, digenic"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 7 without polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110090"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 7 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 10 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24140113"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615630"^^xsd:string) AnnotationAssertion( "SRTD10"^^xsd:string) AnnotationAssertion( "SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 10 with polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110091"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 10 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 6 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21211617"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22499340"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NEK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:263520"^^xsd:string) AnnotationAssertion( "NCI:C122654"^^xsd:string) AnnotationAssertion( "Majewski syndrome"^^xsd:string) AnnotationAssertion( "SRPS type II"^^xsd:string) AnnotationAssertion( "SRPS2A"^^xsd:string) AnnotationAssertion( "SRTD6"^^xsd:string) AnnotationAssertion( "Short Rib Polydactyly Syndrome, Type II"^^xsd:string) AnnotationAssertion( "Short Rib-Polydactyly Syndrome, Type IIA"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type 2"^^xsd:string) AnnotationAssertion( "polydactyly with neonatal chondrodystrophy, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110092"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 6 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 13 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25361962"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616300"^^xsd:string) AnnotationAssertion( "SRTD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110093"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 8 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23910462"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615503"^^xsd:string) AnnotationAssertion( "SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI"^^xsd:string) AnnotationAssertion( "SRPS6"^^xsd:string) AnnotationAssertion( "SRTD8"^^xsd:string) AnnotationAssertion( "short rib polydactyly syndrome 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110094"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 8 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 11 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24183449"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.2"^^xsd:string) AnnotationAssertion( "MIM:615633"^^xsd:string) AnnotationAssertion( "MONDO:0014287"^^xsd:string) AnnotationAssertion( "DYNC2I2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SRTD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110095"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 11 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 14 with polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26166481"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "KIAA0586-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616546"^^xsd:string) AnnotationAssertion( "SRTD14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110096"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 14 with polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short-rib thoracic dysplasia 9 with or without polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22503633"^^xsd:string) "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266920"^^xsd:string) AnnotationAssertion( "MESH:C535463"^^xsd:string) AnnotationAssertion( "MZSDS"^^xsd:string) AnnotationAssertion( "Mainzer-Saldino chondrodysplasia"^^xsd:string) AnnotationAssertion( "Mainzer-Saldino disease"^^xsd:string) AnnotationAssertion( "Mainzer-Saldino syndrome"^^xsd:string) AnnotationAssertion( "SRTD9"^^xsd:string) AnnotationAssertion( "conorenal dysplasia"^^xsd:string) AnnotationAssertion( "conorenal syndrome"^^xsd:string) AnnotationAssertion( "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia without polydactyly"^^xsd:string) AnnotationAssertion( "DOID:0110097"^^xsd:string) AnnotationAssertion(rdfs:label "short-rib thoracic dysplasia 9 with or without polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atopic dermatitis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16912508"^^xsd:string) "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605803"^^xsd:string) AnnotationAssertion( "FLG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FLG-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C565293"^^xsd:string) AnnotationAssertion( "ATOD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atopic dermatitis, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:0110098"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 2"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11279517"^^xsd:string) "An atopic dermatitis associated with variation in the region 20p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605804"^^xsd:string) AnnotationAssertion( "MESH:C565292"^^xsd:string) AnnotationAssertion( "ATOD3"^^xsd:string) AnnotationAssertion( "Dermatitis, Atopic, with Asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110099"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atopic dermatitis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11279517"^^xsd:string) "An atopic dermatitis associated with variation in the region 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605805"^^xsd:string) AnnotationAssertion( "MESH:C565291"^^xsd:string) AnnotationAssertion( "ATOD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110100"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 4"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11069631"^^xsd:string) "An atopic dermatitis associated with variation in the region 13q12-q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605844"^^xsd:string) AnnotationAssertion( "MESH:C565280"^^xsd:string) AnnotationAssertion( "ATOD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110101"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 5"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11069631"^^xsd:string) "An atopic dermatitis associated with variation in the region 5q31-q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605845"^^xsd:string) AnnotationAssertion( "MESH:C565279"^^xsd:string) AnnotationAssertion( "ATOD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110102"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 6"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19349984"^^xsd:string) "An atopic dermatitis associated with variation in the region 11q13.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613064"^^xsd:string) AnnotationAssertion( "MESH:C567796"^^xsd:string) AnnotationAssertion( "ATOD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110103"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 7"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19517137"^^xsd:string) "An atopic dermatitis associated with variation in the region 4q22.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613518"^^xsd:string) AnnotationAssertion( "ATOD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110104"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 8"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19517137"^^xsd:string) "An atopic dermatitis associated with variation in the region 3p24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613519"^^xsd:string) AnnotationAssertion( "ATOD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110105"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis 9"^^xsd:string) SubClassOf( ) # Class: (atrial heart septal defect 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9610535"^^xsd:string) "An atrial heart septal defect type 1 associated with variation in the region 5p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108800"^^xsd:string) AnnotationAssertion( "RDO:0014650"^^xsd:string) AnnotationAssertion( "MESH:C566239"^^xsd:string) AnnotationAssertion( "RDO:0014649"^^xsd:string) AnnotationAssertion( "ASD1"^^xsd:string) AnnotationAssertion( "atrial septal defect 1"^^xsd:string) AnnotationAssertion( "ASD I"^^xsd:string) AnnotationAssertion( "ASD II"^^xsd:string) AnnotationAssertion( "Atrial Septal Defect, Primum Type"^^xsd:string) AnnotationAssertion( "Atrial Septal Defect, Secundum Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110106"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 1"^^xsd:string) SubClassOf( ) # Class: (atrial heart septal defect 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12845333"^^xsd:string) "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607941"^^xsd:string) AnnotationAssertion( "RDO:0004221"^^xsd:string) AnnotationAssertion( "MESH:C538263"^^xsd:string) AnnotationAssertion( "ASD2"^^xsd:string) AnnotationAssertion( "Atrial Septal Defect 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110107"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15735645"^^xsd:string) "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614089"^^xsd:string) AnnotationAssertion( "RDO:9000137"^^xsd:string) AnnotationAssertion( "MESH:C563540"^^xsd:string) AnnotationAssertion( "RDO:0012768"^^xsd:string) AnnotationAssertion( "ASD3"^^xsd:string) AnnotationAssertion( "atrial septal defect 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110108"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17668378"^^xsd:string) "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611363"^^xsd:string) AnnotationAssertion( "MESH:C566963"^^xsd:string) AnnotationAssertion( "RDO:0015163"^^xsd:string) AnnotationAssertion( "ASD4"^^xsd:string) AnnotationAssertion( "TBX20-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "atrial septal defect 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110109"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17947298"^^xsd:string) "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612794"^^xsd:string) AnnotationAssertion( "RDO:0015609"^^xsd:string) AnnotationAssertion( "MESH:C567561"^^xsd:string) AnnotationAssertion( "ASD5"^^xsd:string) AnnotationAssertion( "atrial septal defect 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110110"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18830233"^^xsd:string) "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613087"^^xsd:string) AnnotationAssertion( "RDO:0012033"^^xsd:string) AnnotationAssertion( "MESH:C567764"^^xsd:string) AnnotationAssertion( "ASD6"^^xsd:string) AnnotationAssertion( "TLL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "atrial septal defect 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110111"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9651244"^^xsd:string) "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108900"^^xsd:string) AnnotationAssertion( "ORDO:1479"^^xsd:string) AnnotationAssertion( "ASD with or without atrioventricular conduction defects"^^xsd:string) AnnotationAssertion( "ASD7"^^xsd:string) AnnotationAssertion( "ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS"^^xsd:string) AnnotationAssertion( "atrial septal defect 7, with or without AV conduction defects"^^xsd:string) AnnotationAssertion( "atrial septal defect-atrioventricular conduction defects syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110112"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16287139"^^xsd:string) "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614433"^^xsd:string) AnnotationAssertion( "ASD8"^^xsd:string) AnnotationAssertion( "atrial septal defect 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110113"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrial heart septal defect 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20631719"^^xsd:string) "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614475"^^xsd:string) AnnotationAssertion( "ASD9"^^xsd:string) AnnotationAssertion( "atrial septal defect 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110114"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune lymphoproliferative syndrome type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16446975"^^xsd:string) "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603909"^^xsd:string) AnnotationAssertion( "RDO:0014370"^^xsd:string) AnnotationAssertion( "MESH:C565833"^^xsd:string) AnnotationAssertion( "ALPS2"^^xsd:string) AnnotationAssertion( "ALPS2A"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome type IIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110115"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune lymphoproliferative syndrome type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune lymphoproliferative syndrome type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12353035"^^xsd:string) "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607271"^^xsd:string) AnnotationAssertion( "ORDO:275517"^^xsd:string) AnnotationAssertion( "ALPS with recurrent viral infections"^^xsd:string) AnnotationAssertion( "ALPS2B"^^xsd:string) AnnotationAssertion( "CEDS"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome type 2B (ALPS2B)"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome with recurrent viral infections"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome, type IIB"^^xsd:string) AnnotationAssertion( "caspase 8 deficiencies"^^xsd:string) AnnotationAssertion( "caspase 8 deficiency"^^xsd:string) AnnotationAssertion( "caspase 8 deficiency syndrome"^^xsd:string) AnnotationAssertion( "caspase eight deficiency state"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110116"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune lymphoproliferative syndrome type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune lymphoproliferative syndrome type 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24240292/"^^xsd:string) "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D72.8"^^xsd:string) AnnotationAssertion( "MIM:614470"^^xsd:string) AnnotationAssertion( "ORDO:268114"^^xsd:string) AnnotationAssertion( "ALPS type 4"^^xsd:string) AnnotationAssertion( "ALPS type IV"^^xsd:string) AnnotationAssertion( "ALPS4"^^xsd:string) AnnotationAssertion( "RALD"^^xsd:string) AnnotationAssertion( "RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER"^^xsd:string) AnnotationAssertion( "RAS-associated autoimmune leukoproliferative disease"^^xsd:string) AnnotationAssertion( "RAS-associated autoimmune leukoproliferative disorder, somatic"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110117"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune lymphoproliferative syndrome type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21763485"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614186"^^xsd:string) AnnotationAssertion( "LCA16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110118"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune lymphoproliferative syndrome type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23319571"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23666743"^^xsd:string) "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615559"^^xsd:string) AnnotationAssertion( "ALPS3"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CVID9"^^xsd:string) AnnotationAssertion( "common variable immunodeficiency 9"^^xsd:string) AnnotationAssertion( "DOID:0110119"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune lymphoproliferative syndrome type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axenfeld-Rieger syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8944018"^^xsd:string) "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180500"^^xsd:string) AnnotationAssertion( "RGS"^^xsd:string) AnnotationAssertion( "RIEG"^^xsd:string) AnnotationAssertion( "RIEG1"^^xsd:string) AnnotationAssertion( "Rieger syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110120"^^xsd:string) AnnotationAssertion(rdfs:label "Axenfeld-Rieger syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axenfeld-Rieger syndrome type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8751862"^^xsd:string) "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601499"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.8"^^xsd:string) AnnotationAssertion( "MESH:C535680"^^xsd:string) AnnotationAssertion( "RIEG2"^^xsd:string) AnnotationAssertion( "Rieger syndrome 2"^^xsd:string) AnnotationAssertion( "Rieger syndrome type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110121"^^xsd:string) AnnotationAssertion(rdfs:label "Axenfeld-Rieger syndrome type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axenfeld-Rieger syndrome type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9792859"^^xsd:string) "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602482"^^xsd:string) AnnotationAssertion( "Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "RIEG3"^^xsd:string) AnnotationAssertion( "Rieger syndrome type 3"^^xsd:string) AnnotationAssertion( "anterior chamber cleavage syndrome"^^xsd:string) AnnotationAssertion( "anterior segment mesenchymal dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110122"^^xsd:string) AnnotationAssertion(rdfs:label "Axenfeld-Rieger syndrome type 3"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20177705"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209900"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME 1/10, DIGENIC"^^xsd:string) AnnotationAssertion( "EFO:0009021"^^xsd:string) AnnotationAssertion( "GARD:820"^^xsd:string) AnnotationAssertion( "MESH:C537909"^^xsd:string) AnnotationAssertion( "BBS1"^^xsd:string) AnnotationAssertion( "BBS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Bardet-Biedl syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME 1, MODIFIER OF"^^xsd:string) AnnotationAssertion( "DOID:0110123"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16823392"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615981"^^xsd:string) AnnotationAssertion( "BBS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BBS2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "BBS2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:821"^^xsd:string) AnnotationAssertion( "MESH:C537910"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME TYPE 2"^^xsd:string) AnnotationAssertion( "BBS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110124"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15314642"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600151"^^xsd:string) AnnotationAssertion( "GARD:822"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.89"^^xsd:string) AnnotationAssertion( "MESH:C537911"^^xsd:string) AnnotationAssertion( "BBS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110125"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11381270"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615982"^^xsd:string) AnnotationAssertion( "OMIA:002045"^^xsd:string) AnnotationAssertion( "EFO:0009024"^^xsd:string) AnnotationAssertion( "GARD:823"^^xsd:string) AnnotationAssertion( "MESH:C537912"^^xsd:string) AnnotationAssertion( "BBS4"^^xsd:string) AnnotationAssertion( "BBS4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110126"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15137946"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009025"^^xsd:string) AnnotationAssertion( "GARD:10204"^^xsd:string) AnnotationAssertion( "MIM:615983"^^xsd:string) AnnotationAssertion( "BBS5"^^xsd:string) AnnotationAssertion( "BBS5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110127"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10973238"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10973251"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605231"^^xsd:string) AnnotationAssertion( "MKKS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10205"^^xsd:string) AnnotationAssertion( "MESH:C565738"^^xsd:string) AnnotationAssertion( "BBS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110128"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12567324"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615984"^^xsd:string) AnnotationAssertion( "EFO:0009026"^^xsd:string) AnnotationAssertion( "GARD:10206"^^xsd:string) AnnotationAssertion( "MESH:C565916"^^xsd:string) AnnotationAssertion( "BBS7"^^xsd:string) AnnotationAssertion( "BBS7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110129"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14520415"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16308660"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615985"^^xsd:string) AnnotationAssertion( "TTC8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10207"^^xsd:string) AnnotationAssertion( "MESH:C565917"^^xsd:string) AnnotationAssertion( "BBS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110130"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16380913"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615986"^^xsd:string) AnnotationAssertion( "EFO:0009027"^^xsd:string) AnnotationAssertion( "GARD:10208"^^xsd:string) AnnotationAssertion( "MESH:C565918"^^xsd:string) AnnotationAssertion( "BBS9"^^xsd:string) AnnotationAssertion( "BBS9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RETINAL VASCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110131"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16582908"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615987"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME 1/10, DIGENIC"^^xsd:string) AnnotationAssertion( "EFO:0009022"^^xsd:string) AnnotationAssertion( "GARD:10209"^^xsd:string) AnnotationAssertion( "MESH:C565919"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME TYPE 10"^^xsd:string) AnnotationAssertion( "BBS10"^^xsd:string) AnnotationAssertion( "BBS10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110132"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 10"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16606853"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615988"^^xsd:string) AnnotationAssertion( "TRIM32-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10210"^^xsd:string) AnnotationAssertion( "MESH:C565920"^^xsd:string) AnnotationAssertion( "BBS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110133"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 11"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17160889"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19797195"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615989"^^xsd:string) AnnotationAssertion( "EFO:0009023"^^xsd:string) AnnotationAssertion( "GARD:10211"^^xsd:string) AnnotationAssertion( "MESH:C565921"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME TYPE 12"^^xsd:string) AnnotationAssertion( "BBS12"^^xsd:string) AnnotationAssertion( "BBS12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110134"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 12"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18327255"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615990"^^xsd:string) AnnotationAssertion( "MESH:C567140"^^xsd:string) AnnotationAssertion( "BBS13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110135"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 13"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18327255"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615991"^^xsd:string) AnnotationAssertion( "MESH:C567141"^^xsd:string) AnnotationAssertion( "BBS14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BARDET-BIEDL SYNDROME 14, MODIFIER OF"^^xsd:string) AnnotationAssertion( "DOID:0110136"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 14"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20671153"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "WDPCP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615992"^^xsd:string) AnnotationAssertion( "BBS15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110137"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 15"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20835237"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22626039"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "SDCCAG8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615993"^^xsd:string) AnnotationAssertion( "MONDO:0014444"^^xsd:string) AnnotationAssertion( "BBS16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Bardet-Biedel syndrome 16"^^xsd:string) AnnotationAssertion( "DOID:0110138"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 16"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22510444"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23692385"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615994"^^xsd:string) AnnotationAssertion( "BBS17"^^xsd:string) AnnotationAssertion( "LZTFL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110139"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 17"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24026985"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615995"^^xsd:string) AnnotationAssertion( "BBS18"^^xsd:string) AnnotationAssertion( "BBIP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110140"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 18"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24488770"^^xsd:string) "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615996"^^xsd:string) AnnotationAssertion( "BBS19"^^xsd:string) AnnotationAssertion( "IFT27-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110141"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome 19"^^xsd:string) SubClassOf( ) # Class: (Bartter disease type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9355073"^^xsd:string) "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601678"^^xsd:string) AnnotationAssertion( "MESH:C537652"^^xsd:string) AnnotationAssertion( "NCI:C178412"^^xsd:string) AnnotationAssertion( "BARTS1"^^xsd:string) AnnotationAssertion( "Bartter syndrome type 1"^^xsd:string) AnnotationAssertion( "Bartter syndrome type 1 antenatal"^^xsd:string) AnnotationAssertion( "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL"^^xsd:string) AnnotationAssertion( "Hyperprostaglandin E syndrome 1"^^xsd:string) AnnotationAssertion( "Hypokalemic alkalosis with hypercalciuria, antenatal"^^xsd:string) AnnotationAssertion( "SLC12A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110142"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 1"^^xsd:string) SubClassOf( ) # Class: (Bartter disease type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326936"^^xsd:string) "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241200"^^xsd:string) AnnotationAssertion( "ICD10CM:E26.8"^^xsd:string) AnnotationAssertion( "MESH:C537651"^^xsd:string) AnnotationAssertion( "BARTS2"^^xsd:string) AnnotationAssertion( "Bartter syndrome type 2"^^xsd:string) AnnotationAssertion( "Bartter syndrome type 2 antenatal"^^xsd:string) AnnotationAssertion( "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL"^^xsd:string) AnnotationAssertion( "Hyperprostaglandin E syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110143"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 2"^^xsd:string) SubClassOf( ) # Class: (Bartter disease type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326936"^^xsd:string) "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607364"^^xsd:string) AnnotationAssertion( "GARD:9659"^^xsd:string) AnnotationAssertion( "MESH:C537653"^^xsd:string) AnnotationAssertion( "BARTS3"^^xsd:string) AnnotationAssertion( "Bartter Syndrome, Type 3"^^xsd:string) AnnotationAssertion( "Bartter syndrome, classic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110144"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 3"^^xsd:string) SubClassOf( ) # Class: (Bartter disease type 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11687798"^^xsd:string) "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602522"^^xsd:string) AnnotationAssertion( "MESH:C566530"^^xsd:string) AnnotationAssertion( "BARTS4A"^^xsd:string) AnnotationAssertion( "BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS"^^xsd:string) AnnotationAssertion( "BSND"^^xsd:string) AnnotationAssertion( "Bartter syndrome type 4A"^^xsd:string) AnnotationAssertion( "BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS"^^xsd:string) AnnotationAssertion( "BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110145"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartter disease type 4b) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15044642"^^xsd:string) "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613090"^^xsd:string) AnnotationAssertion( "MESH:C567762"^^xsd:string) AnnotationAssertion( "BARTS4B"^^xsd:string) AnnotationAssertion( "BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS"^^xsd:string) AnnotationAssertion( "Bartter Syndrome, Infantile, with Sensorineural Deafness"^^xsd:string) AnnotationAssertion( "Bartter Syndrome, Type 4B"^^xsd:string) AnnotationAssertion( "Bartter syndrome, type 4b, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110146"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 4b"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartter disease type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27120771"^^xsd:string) "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300971"^^xsd:string) AnnotationAssertion( "BARTS5"^^xsd:string) AnnotationAssertion( "Bartter syndrome, type 5, antenatal, transient"^^xsd:string) AnnotationAssertion( "transient antenatal Bartter syndrome-5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110147"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease type 5"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1677316"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21326314"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1245"^^xsd:string) AnnotationAssertion( "MIM:118220"^^xsd:string) AnnotationAssertion( "MONDO:0007309"^^xsd:string) AnnotationAssertion( "NCI:C75468"^^xsd:string) AnnotationAssertion( "ORDO:101081"^^xsd:string) AnnotationAssertion( "CMT1A"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth disease, type IA"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth neuropathy, type 1A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths"^^xsd:string) AnnotationAssertion( "HMSN 1A"^^xsd:string) AnnotationAssertion( "HMSN IA"^^xsd:string) AnnotationAssertion( "HMSN1A"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 1A"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy IA"^^xsd:string) AnnotationAssertion( "microduplication 17p12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110148"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12566280"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607734"^^xsd:string) AnnotationAssertion( "RDO:0003916"^^xsd:string) AnnotationAssertion( "MESH:C537987"^^xsd:string) AnnotationAssertion( "ORDO:101085"^^xsd:string) AnnotationAssertion( "CMT 1F"^^xsd:string) AnnotationAssertion( "CMT1f"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 1F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110149"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1F"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9537424"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). (DO)"^^xsd:string) AnnotationAssertion( "MIM:607678"^^xsd:string) AnnotationAssertion( "MESH:C537985"^^xsd:string) AnnotationAssertion( "ORDO:101084"^^xsd:string) AnnotationAssertion( "CMT1D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 1D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, Type 1D"^^xsd:string) AnnotationAssertion( "HMSN 1D"^^xsd:string) AnnotationAssertion( "HMSN ID"^^xsd:string) AnnotationAssertion( "HMSN1D"^^xsd:string) AnnotationAssertion( "HMSNID"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110150"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12525712"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601098"^^xsd:string) AnnotationAssertion( "MESH:C537984"^^xsd:string) AnnotationAssertion( "ORDO:101083"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, TYPE IC"^^xsd:string) AnnotationAssertion( "CMT, slow nerve conduction type C"^^xsd:string) AnnotationAssertion( "CMT1C"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1C"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 1C"^^xsd:string) AnnotationAssertion( "HMSN IC"^^xsd:string) AnnotationAssertion( "HMSN1C"^^xsd:string) AnnotationAssertion( "HMSNIC"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type 1C"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type IC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110151"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7693129"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:118200"^^xsd:string) AnnotationAssertion( "NCI:C118782"^^xsd:string) AnnotationAssertion( "ORDO:101082"^^xsd:string) AnnotationAssertion( "CMT1B"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth neuropathy, type 1B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type IB"^^xsd:string) AnnotationAssertion( "HMSN 1B"^^xsd:string) AnnotationAssertion( "HMSN IB"^^xsd:string) AnnotationAssertion( "HMSN1B"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110152"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10330345"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538078"^^xsd:string) AnnotationAssertion( "MESH:C566136"^^xsd:string) AnnotationAssertion( "MIM:118300"^^xsd:string) AnnotationAssertion( "MIM:214370"^^xsd:string) AnnotationAssertion( "GARD:9190"^^xsd:string) AnnotationAssertion( "MESH:C537986"^^xsd:string) AnnotationAssertion( "ORDO:90658"^^xsd:string) AnnotationAssertion( "CMT1E"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease and deafness"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating type 1E"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease-deafness"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant"^^xsd:string) AnnotationAssertion( "deafness with Charcot-Marie-Tooth disease"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy with deafness, mental retardation, and absent sensory large myelinated fibers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110153"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2A1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11389829"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118210"^^xsd:string) AnnotationAssertion( "MESH:C566138"^^xsd:string) AnnotationAssertion( "ORDO:99946"^^xsd:string) AnnotationAssertion( "CMT2A1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, type 2A1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, type 2A1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2A1"^^xsd:string) AnnotationAssertion( "HMSN IIA1"^^xsd:string) AnnotationAssertion( "HMSN2A1"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy IIA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110154"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2A1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2A2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15064763"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19889647"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609260"^^xsd:string) AnnotationAssertion( "NCI:C150646"^^xsd:string) AnnotationAssertion( "CMT2A2A"^^xsd:string) AnnotationAssertion( "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2"^^xsd:string) AnnotationAssertion( "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2A2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110155"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2A2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2B1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11799477"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605588"^^xsd:string) AnnotationAssertion( "ICD10CM:G60.0"^^xsd:string) AnnotationAssertion( "MESH:C537990"^^xsd:string) AnnotationAssertion( "ORDO:98856"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1"^^xsd:string) AnnotationAssertion( "CMT2B1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 2b1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2B1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, Type 2B1"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease type 2B1"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal CMT4C1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110156"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2B1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10071056"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607736"^^xsd:string) AnnotationAssertion( "MESH:C535417"^^xsd:string) AnnotationAssertion( "ORDO:99943"^^xsd:string) AnnotationAssertion( "CMT 2J"^^xsd:string) AnnotationAssertion( "CMT2J"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2J"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease type 2J"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110157"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2J"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10071056"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607677"^^xsd:string) AnnotationAssertion( "MESH:C535416"^^xsd:string) AnnotationAssertion( "ORDO:99942"^^xsd:string) AnnotationAssertion( "CMT 2I"^^xsd:string) AnnotationAssertion( "CMT2I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, type 2I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, axonal, type 2I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110158"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12545426"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600882"^^xsd:string) AnnotationAssertion( "GARD:9192"^^xsd:string) AnnotationAssertion( "MESH:C537989"^^xsd:string) AnnotationAssertion( "ORDO:99936"^^xsd:string) AnnotationAssertion( "CMT 2B"^^xsd:string) AnnotationAssertion( "CMT2B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 2B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, Type 2B"^^xsd:string) AnnotationAssertion( "HMSN IIB"^^xsd:string) AnnotationAssertion( "HMSN2B"^^xsd:string) AnnotationAssertion( "Hereditary Motor And Sensory Neuropathy IIB"^^xsd:string) AnnotationAssertion( "Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)"^^xsd:string) AnnotationAssertion( "Peripheral sensory neuropathy, autosomal dominant (PSN)"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory nueropathy IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110159"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2T) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26991897"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000420"^^xsd:string) AnnotationAssertion( "MME-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009162"^^xsd:string) AnnotationAssertion( "MIM:617017"^^xsd:string) AnnotationAssertion( "ORDO:443950"^^xsd:string) AnnotationAssertion( "AR-CMT2T"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE TYPE 2T"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T"^^xsd:string) AnnotationAssertion( "CMT2T"^^xsd:string) AnnotationAssertion( "MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110160"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2T"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2R) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23562820"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25893792"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615490"^^xsd:string) AnnotationAssertion( "ORDO:397968"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R"^^xsd:string) AnnotationAssertion( "CMT2R"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Type 2R"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110161"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2R"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease, axonal type 2W) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22930593"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001390"^^xsd:string) AnnotationAssertion( "MIM:616625"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W"^^xsd:string) AnnotationAssertion( "CMT2W"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2W"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110162"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease, axonal type 2W"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15122254"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)"^^xsd:string) AnnotationAssertion( "MIM:606595"^^xsd:string) AnnotationAssertion( "HSPB1-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C535413"^^xsd:string) AnnotationAssertion( "ORDO:99940"^^xsd:string) AnnotationAssertion( "CMT 2F"^^xsd:string) AnnotationAssertion( "CMT2F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, type 2F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuronal type 2F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2F"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110163"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12690580"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601472"^^xsd:string) AnnotationAssertion( "MESH:C537993"^^xsd:string) AnnotationAssertion( "MONDO:0011091"^^xsd:string) AnnotationAssertion( "NCI:C122659"^^xsd:string) AnnotationAssertion( "ORDO:99938"^^xsd:string) AnnotationAssertion( "CMT2D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, Type 2D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2D"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110164"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10841809"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17620486"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607684"^^xsd:string) AnnotationAssertion( "MESH:C537994"^^xsd:string) AnnotationAssertion( "NCI:C134953"^^xsd:string) AnnotationAssertion( "ORDO:99939"^^xsd:string) AnnotationAssertion( "CMT 2E"^^xsd:string) AnnotationAssertion( "CMT2E"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2E"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2E"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110165"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11166163"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607731"^^xsd:string) AnnotationAssertion( "MESH:C535415"^^xsd:string) AnnotationAssertion( "ORDO:101102"^^xsd:string) AnnotationAssertion( "AR-CMT2C"^^xsd:string) AnnotationAssertion( "CMT2H"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2H"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal CMT4C2"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease with pyramidal involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110166"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2H"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2K) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12707075"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607831"^^xsd:string) AnnotationAssertion( "MESH:C535418"^^xsd:string) AnnotationAssertion( "MESH:C564325"^^xsd:string) AnnotationAssertion( "NCI:C133886"^^xsd:string) AnnotationAssertion( "ORDO:101097"^^xsd:string) AnnotationAssertion( "ARCMT2K"^^xsd:string) AnnotationAssertion( "CMT 2K"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2K"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K"^^xsd:string) AnnotationAssertion( "Cmt2k"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease with hoarseness"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal CMT4C4"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110167"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2K"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2Y) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25125609"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616687"^^xsd:string) AnnotationAssertion( "NCI:C168974"^^xsd:string) AnnotationAssertion( "ORDO:435387"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y"^^xsd:string) AnnotationAssertion( "CMT2 due to VCP mutation"^^xsd:string) AnnotationAssertion( "CMT2Y"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Type 2Y"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation"^^xsd:string) AnnotationAssertion( "autosomal dominant axonal Charcot-Marie-Tooth type 2Y"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110168"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2Y"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2P) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20865121"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0000515"^^xsd:string) AnnotationAssertion( "RDO:9000224"^^xsd:string) AnnotationAssertion( "GARD:12435"^^xsd:string) AnnotationAssertion( "MIM:614436"^^xsd:string) AnnotationAssertion( "ORDO:300319"^^xsd:string) AnnotationAssertion( "CMT 2G"^^xsd:string) AnnotationAssertion( "CMT2G"^^xsd:string) AnnotationAssertion( "CMT2P"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 2G"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 2P"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2G"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2P"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110169"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2P"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2Q) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23141294"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. (DO)"^^xsd:string) AnnotationAssertion( "DHTKD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615025"^^xsd:string) AnnotationAssertion( "ORDO:329258"^^xsd:string) AnnotationAssertion( "CMT2Q"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2Q"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2Q"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2Q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110170"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2Q"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2S) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25439726"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001125"^^xsd:string) AnnotationAssertion( "MIM:616155"^^xsd:string) AnnotationAssertion( "ORDO:443073"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S"^^xsd:string) AnnotationAssertion( "CMT2S"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2S"^^xsd:string) AnnotationAssertion( "autosomal recessive axonal Charcot-Marie-Tooth type 2S"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110171"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2S"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2U) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23729695"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616280"^^xsd:string) AnnotationAssertion( "ORDO:397735"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U"^^xsd:string) AnnotationAssertion( "CMT2U"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2U"^^xsd:string) AnnotationAssertion( "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110173"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2U"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2L) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15565283"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608673"^^xsd:string) AnnotationAssertion( "MONDO:0012096"^^xsd:string) AnnotationAssertion( "ORDO:99945"^^xsd:string) AnnotationAssertion( "CMT2L"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 2L"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2L"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth neuropathy, type 2L"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110174"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2L"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2O) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21820100"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000222"^^xsd:string) AnnotationAssertion( "RDO:9002957"^^xsd:string) AnnotationAssertion( "MIM:614228"^^xsd:string) AnnotationAssertion( "ORDO:284232"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O"^^xsd:string) AnnotationAssertion( "CMT2O"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2O"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110175"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2O"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2X) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26556829"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000409"^^xsd:string) AnnotationAssertion( "EFO:1001983"^^xsd:string) AnnotationAssertion( "MIM:616668"^^xsd:string) AnnotationAssertion( "ORDO:466775"^^xsd:string) AnnotationAssertion( "Autosomal recessive Charcot Marie Tooth disease type 2X"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X"^^xsd:string) AnnotationAssertion( "CMT2X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110176"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2X"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2N) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20045102"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613287"^^xsd:string) AnnotationAssertion( "MESH:C567653"^^xsd:string) AnnotationAssertion( "ORDO:228174"^^xsd:string) AnnotationAssertion( "CMT2N"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2N"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2N"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth neuropathy, type 2N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110177"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2N"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2V) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25818867"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001389"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2"^^xsd:string) AnnotationAssertion( "MIM:616491"^^xsd:string) AnnotationAssertion( "ORDO:447964"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V"^^xsd:string) AnnotationAssertion( "CMT2V"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2V"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110178"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2B2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19290556"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605589"^^xsd:string) AnnotationAssertion( "MESH:C537991"^^xsd:string) AnnotationAssertion( "ORDO:101101"^^xsd:string) AnnotationAssertion( "AR-CMT2B2"^^xsd:string) AnnotationAssertion( "ARCMT2B"^^xsd:string) AnnotationAssertion( "Autosomal recessive axonal CMT4C3"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2"^^xsd:string) AnnotationAssertion( "CMT 2B2"^^xsd:string) AnnotationAssertion( "CMT2B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, Type 2B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2B2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110179"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2B2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2CC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27040688"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000361"^^xsd:string) AnnotationAssertion( "NEFH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616924"^^xsd:string) AnnotationAssertion( "CMT2CC"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2CC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110180"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2CC"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2Z) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26497905"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MORC2-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616688"^^xsd:string) AnnotationAssertion( "ORDO:466768"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z"^^xsd:string) AnnotationAssertion( "CMT2Z"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110181"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2Z"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease axonal type 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20037588"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606071"^^xsd:string) AnnotationAssertion( "MESH:C537992"^^xsd:string) AnnotationAssertion( "MESH:C565261"^^xsd:string) AnnotationAssertion( "ORDO:99937"^^xsd:string) AnnotationAssertion( "CMT2C"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 2C"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2C"^^xsd:string) AnnotationAssertion( "HMSN IIC"^^xsd:string) AnnotationAssertion( "HMSN2C"^^xsd:string) AnnotationAssertion( "Hereditary Motor and Sensory Neuropathy, Type IIC"^^xsd:string) AnnotationAssertion( "Hereditary motor and sensory neuropathy 2 C"^^xsd:string) AnnotationAssertion( "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C"^^xsd:string) AnnotationAssertion( "autosomal dominant Charcot-Marie-Tooth disease type 2C"^^xsd:string) AnnotationAssertion( "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110182"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease axonal type 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14574644"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601596"^^xsd:string) AnnotationAssertion( "RDO:0000525"^^xsd:string) AnnotationAssertion( "SH3TC2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C535423"^^xsd:string) AnnotationAssertion( "NCI:C129864"^^xsd:string) AnnotationAssertion( "ORDO:99949"^^xsd:string) AnnotationAssertion( "CMT 4C"^^xsd:string) AnnotationAssertion( "CMT4C"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 4c"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4c"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110183"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17572665"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611228"^^xsd:string) AnnotationAssertion( "MESH:C566984"^^xsd:string) AnnotationAssertion( "NCI:C134954"^^xsd:string) AnnotationAssertion( "ORDO:139515"^^xsd:string) AnnotationAssertion( "CMT4J"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease type 4J"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110184"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4J"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11743579"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214400"^^xsd:string) AnnotationAssertion( "RDO:0000520"^^xsd:string) AnnotationAssertion( "MESH:C535419"^^xsd:string) AnnotationAssertion( "ORDO:99948"^^xsd:string) AnnotationAssertion( "CMT4A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 4A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110185"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10831399"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:601455"^^xsd:string) AnnotationAssertion( "OMIA:002120"^^xsd:string) AnnotationAssertion( "MESH:C535716"^^xsd:string) AnnotationAssertion( "ORDO:99950"^^xsd:string) AnnotationAssertion( "CMT4D"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 4D"^^xsd:string) AnnotationAssertion( "HMSN LOM type"^^xsd:string) AnnotationAssertion( "HMSN-LOM"^^xsd:string) AnnotationAssertion( "HMSN4D"^^xsd:string) AnnotationAssertion( "HMSNL"^^xsd:string) AnnotationAssertion( "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, LOM type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "polyneuropathy, NDRG1-related"^^xsd:string) AnnotationAssertion( "DOID:0110186"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4D"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4K) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24027061"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616684"^^xsd:string) AnnotationAssertion( "ORDO:391351"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K"^^xsd:string) AnnotationAssertion( "CMT4K"^^xsd:string) AnnotationAssertion( "SURF1-related CMT4"^^xsd:string) AnnotationAssertion( "SURF1-related Charcot-Marie-Tooth disease type 4"^^xsd:string) AnnotationAssertion( "SURF1-related severe demyelinating Charcot-Marie-Tooth disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110187"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4K"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17011878"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613341"^^xsd:string) AnnotationAssertion( "MESH:C567636"^^xsd:string) AnnotationAssertion( "LCA14"^^xsd:string) AnnotationAssertion( "LRAT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early-onset severe retinal dystrophy, LRAT-related"^^xsd:string) AnnotationAssertion( "juvenile retinitis pigmentosa, LRAT-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110188"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15024725"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613843"^^xsd:string) AnnotationAssertion( "LCA15"^^xsd:string) AnnotationAssertion( "juvenile retinitis pigmentosa, TULP1-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110189"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4B2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12554688"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535422"^^xsd:string) AnnotationAssertion( "MESH:C565761"^^xsd:string) AnnotationAssertion( "MIM:604563"^^xsd:string) AnnotationAssertion( "GARD:9200"^^xsd:string) AnnotationAssertion( "MESH:C535421"^^xsd:string) AnnotationAssertion( "ORDO:99956"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA"^^xsd:string) AnnotationAssertion( "CMT4B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 4B2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110190"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4B2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4B1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10802647"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)"^^xsd:string) AnnotationAssertion( "MIM:601382"^^xsd:string) AnnotationAssertion( "RDO:0000521"^^xsd:string) AnnotationAssertion( "MESH:C535420"^^xsd:string) AnnotationAssertion( "ORDO:99955"^^xsd:string) AnnotationAssertion( "CMT4B"^^xsd:string) AnnotationAssertion( "CMT4B1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, type 4B"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 4B1"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110191"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4B1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15744041"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564959"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)"^^xsd:string) AnnotationAssertion( "MIM:609311"^^xsd:string) AnnotationAssertion( "MESH:C563740"^^xsd:string) AnnotationAssertion( "ORDO:99954"^^xsd:string) AnnotationAssertion( "CMT4H"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 4H"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease type 4H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110192"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4H"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11157804"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000225"^^xsd:string) AnnotationAssertion( "PRX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614895"^^xsd:string) AnnotationAssertion( "ORDO:99952"^^xsd:string) AnnotationAssertion( "CMT4F"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 4F, demyelinating"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110193"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4B3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23749797"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615284"^^xsd:string) AnnotationAssertion( "NCI:C190871"^^xsd:string) AnnotationAssertion( "ORDO:363981"^^xsd:string) AnnotationAssertion( "CMT4B3"^^xsd:string) AnnotationAssertion( "SBF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110194"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4B3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15184631"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9537424"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605253"^^xsd:string) AnnotationAssertion( "congenital hypomyelinating neuropathy"^^xsd:string) AnnotationAssertion( "congenital hypomyelinating neuropathy (CHN)"^^xsd:string) AnnotationAssertion( "MESH:C535301"^^xsd:string) AnnotationAssertion( "ORDO:99951"^^xsd:string) AnnotationAssertion( "CHN"^^xsd:string) AnnotationAssertion( "CMT4E"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Type 4e"^^xsd:string) AnnotationAssertion( "Hypomyelination, severe congenital"^^xsd:string) AnnotationAssertion( "NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "congenital hypomyelinating neuropathy 1"^^xsd:string) AnnotationAssertion( "congenital hypomyelinating neuropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110195"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4E"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 4G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19536174"^^xsd:string) "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605285"^^xsd:string) AnnotationAssertion( "MESH:C535813"^^xsd:string) AnnotationAssertion( "ORDO:99953"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, autosomal recessive, type 4g"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 4G"^^xsd:string) AnnotationAssertion( "Cmt4g"^^xsd:string) AnnotationAssertion( "HMSNR"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy Russe type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110196"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 4G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15731758"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)"^^xsd:string) AnnotationAssertion( "MIM:606482"^^xsd:string) AnnotationAssertion( "MESH:C564703"^^xsd:string) AnnotationAssertion( "ORDO:100044"^^xsd:string) AnnotationAssertion( "CMTDI1"^^xsd:string) AnnotationAssertion( "CMTDIB"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Type 2m"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B"^^xsd:string) AnnotationAssertion( "DI-CMTB"^^xsd:string) AnnotationAssertion( "DNM2-related intermediate Charcot-Marie-Tooth neuropathy"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA"^^xsd:string) AnnotationAssertion( "CMT2M"^^xsd:string) AnnotationAssertion( "CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110197"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease recessive intermediate C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23777631"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "PLEKHG5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615376"^^xsd:string) AnnotationAssertion( "ORDO:369867"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C"^^xsd:string) AnnotationAssertion( "CMTRIC"^^xsd:string) AnnotationAssertion( "RI-CMT type C"^^xsd:string) AnnotationAssertion( "RI-CMTC"^^xsd:string) AnnotationAssertion( "autosomal recessive intermediate Charcot-Marie-Tooth disease type C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110198"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease recessive intermediate C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16429158"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608323"^^xsd:string) AnnotationAssertion( "MESH:C564257"^^xsd:string) AnnotationAssertion( "ORDO:100045"^^xsd:string) AnnotationAssertion( "CMTDIC"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, dominant intermediate C"^^xsd:string) AnnotationAssertion( "DI-CMTC"^^xsd:string) AnnotationAssertion( "autosomal dominant intermediate Charcot-Marie-Tooth disease type C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110199"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10406984"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607791"^^xsd:string) AnnotationAssertion( "MESH:C564333"^^xsd:string) AnnotationAssertion( "ORDO:100046"^^xsd:string) AnnotationAssertion( "CMTDID"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D"^^xsd:string) AnnotationAssertion( "DI-CMTD"^^xsd:string) AnnotationAssertion( "autosomal dominant intermediate Charcot-Marie-Tooth disease type D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110200"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease recessive intermediate A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12499475"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608340"^^xsd:string) AnnotationAssertion( "MESH:C564256"^^xsd:string) AnnotationAssertion( "ORDO:217055"^^xsd:string) AnnotationAssertion( "CMTRIA"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, recessive intermediate A"^^xsd:string) AnnotationAssertion( "RI-CMTA"^^xsd:string) AnnotationAssertion( "autosomal recessive intermediate Charcot-Marie-Tooth disease type A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110201"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease recessive intermediate A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11533914"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606483"^^xsd:string) AnnotationAssertion( "MIM:620378"^^xsd:string) AnnotationAssertion( "MESH:C564702"^^xsd:string) AnnotationAssertion( "MONDO:0011675"^^xsd:string) AnnotationAssertion( "ORDO:100043"^^xsd:string) AnnotationAssertion( "CMT2GG"^^xsd:string) AnnotationAssertion( "CMTDIA"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2GG"^^xsd:string) AnnotationAssertion( "DI-CMTA"^^xsd:string) AnnotationAssertion( "autosomal dominant intermediate Charcot-Marie-Tooth disease type A"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, type 2GG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110202"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease recessive intermediate D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25152455"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616039"^^xsd:string) AnnotationAssertion( "ORDO:435998"^^xsd:string) AnnotationAssertion( "CMTRID"^^xsd:string) AnnotationAssertion( "RI-CMT type D"^^xsd:string) AnnotationAssertion( "autosomal recessive intermediate Charcot-Marie-Tooth disease D"^^xsd:string) AnnotationAssertion( "autosomal recessive intermediate Charcot-Marie-Tooth disease type D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110203"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease recessive intermediate D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease recessive intermediate B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20920668"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613641"^^xsd:string) AnnotationAssertion( "ORDO:254334"^^xsd:string) AnnotationAssertion( "CMTRIB"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy recessive intermediate B"^^xsd:string) AnnotationAssertion( "RI-CMTB"^^xsd:string) AnnotationAssertion( "autosomal recessive intermediate Charcot-Marie-Tooth disease type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110204"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease recessive intermediate B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22187985"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "INF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614455"^^xsd:string) AnnotationAssertion( "ORDO:93114"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS"^^xsd:string) AnnotationAssertion( "CMTDIE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease-nephropathy syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant intermediate Charcot-Marie-Tooth disease type E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110205"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease dominant intermediate F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23434117"^^xsd:string) "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615185"^^xsd:string) AnnotationAssertion( "ORDO:352670"^^xsd:string) AnnotationAssertion( "CMTDIF"^^xsd:string) AnnotationAssertion( "autosomal dominant intermediate Charcot-Marie-Tooth disease type F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110206"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease dominant intermediate F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked dominant 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23297365"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300905"^^xsd:string) AnnotationAssertion( "ORDO:352675"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6"^^xsd:string) AnnotationAssertion( "CMT6X"^^xsd:string) AnnotationAssertion( "CMTX6"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110207"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked recessive 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1557086"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302801"^^xsd:string) AnnotationAssertion( "MESH:C535302"^^xsd:string) AnnotationAssertion( "ORDO:101076"^^xsd:string) AnnotationAssertion( "CMTX2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110208"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked dominant 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8266101"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302800"^^xsd:string) AnnotationAssertion( "MESH:C535919"^^xsd:string) AnnotationAssertion( "ORDO:101075"^^xsd:string) AnnotationAssertion( "CMT1X"^^xsd:string) AnnotationAssertion( "CMT2"^^xsd:string) AnnotationAssertion( "CMTX"^^xsd:string) AnnotationAssertion( "CMTX 1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, X-Linked, 1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Neuropathy, X-Linked, 1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy X-linked dominant 1"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked"^^xsd:string) AnnotationAssertion( "Cmtx1"^^xsd:string) AnnotationAssertion( "GJB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GJB1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "HMSN, X-linked"^^xsd:string) AnnotationAssertion( "Hereditary motor and sensory neuropathy, X-linked"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110209"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked recessive 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15955956"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311070"^^xsd:string) AnnotationAssertion( "MESH:C537129"^^xsd:string) AnnotationAssertion( "ORDO:99014"^^xsd:string) AnnotationAssertion( "CMT5X"^^xsd:string) AnnotationAssertion( "CMTX5"^^xsd:string) AnnotationAssertion( "Familial opticoacoustic nerve degeneration and polyneuropathy"^^xsd:string) AnnotationAssertion( "Optic Atrophy Polyneuropathy Deafness"^^xsd:string) AnnotationAssertion( "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "Optic atrophy, neural deafness, and distal neurogenic amyotrophy"^^xsd:string) AnnotationAssertion( "Optic atrophy, polyneuropathy, and deafness"^^xsd:string) AnnotationAssertion( "Rosenberg Chutorian syndrome"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 5"^^xsd:string) AnnotationAssertion( "X-linked recessive Charcot-Marie-Tooth neuropathy 5"^^xsd:string) AnnotationAssertion( "optic atrophy, sensorineural hearing loss and polyneuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110210"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked recessive 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1557086"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1674639"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302802"^^xsd:string) AnnotationAssertion( "RDO:0000340"^^xsd:string) AnnotationAssertion( "MESH:C535303"^^xsd:string) AnnotationAssertion( "ORDO:101077"^^xsd:string) AnnotationAssertion( "CMT3X"^^xsd:string) AnnotationAssertion( "CMTX3"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, X-linked recessive 3"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110211"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease X-linked recessive 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23217327"^^xsd:string) "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310490"^^xsd:string) AnnotationAssertion( "MESH:C536450"^^xsd:string) AnnotationAssertion( "ORDO:101078"^^xsd:string) AnnotationAssertion( "CMT4X"^^xsd:string) AnnotationAssertion( "CMTX4"^^xsd:string) AnnotationAssertion( "COWCK"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease X-linked recessive, type 4"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease with deafness and mental retardation"^^xsd:string) AnnotationAssertion( "Cowchock syndrome"^^xsd:string) AnnotationAssertion( "NADMR"^^xsd:string) AnnotationAssertion( "NAMSD"^^xsd:string) AnnotationAssertion( "X-linked Charcot-Marie-Tooth disease type 4"^^xsd:string) AnnotationAssertion( "X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia"^^xsd:string) AnnotationAssertion( "axonal motor-sensory neuropathy with deafness and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110212"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease X-linked recessive 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated cleft palate) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7143384"^^xsd:string) "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0015182"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35.1"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35.5"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35.7"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35.9"^^xsd:string) AnnotationAssertion( "MESH:C566991"^^xsd:string) AnnotationAssertion( "ORDO:2014"^^xsd:string) AnnotationAssertion( "isolated cleft palate, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110213"^^xsd:string) AnnotationAssertion(rdfs:label "isolated cleft palate"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cleft soft palate) AnnotationAssertion(Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772"^^xsd:string) "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119570"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35.3"^^xsd:string) AnnotationAssertion( "MESH:C562950"^^xsd:string) AnnotationAssertion( "ORDO:99772"^^xsd:string) AnnotationAssertion( "cleft velum"^^xsd:string) AnnotationAssertion( "cleft velum palatinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110214"^^xsd:string) AnnotationAssertion(rdfs:label "cleft soft palate"^^xsd:string) SubClassOf( ) # Class: (Leber congenital amaurosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17546029"^^xsd:string) "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604537"^^xsd:string) AnnotationAssertion( "MESH:C536602"^^xsd:string) AnnotationAssertion( "LCA5"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis, type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110215"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16384941"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613837"^^xsd:string) AnnotationAssertion( "RDO:0013196"^^xsd:string) AnnotationAssertion( "IMPDH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564140"^^xsd:string) AnnotationAssertion( "LCA11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110216"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23307924"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615360"^^xsd:string) AnnotationAssertion( "LCA17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110217"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brugada syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9521325"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:601144"^^xsd:string) AnnotationAssertion( "BRGDA1"^^xsd:string) AnnotationAssertion( "right bundle branch block, St segment elevation, and sudden death syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110218"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brugada syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17967977"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611777"^^xsd:string) AnnotationAssertion( "MESH:C567087"^^xsd:string) AnnotationAssertion( "BRGDA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110219"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17224476"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611875"^^xsd:string) AnnotationAssertion( "CACNA1C-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:10361"^^xsd:string) AnnotationAssertion( "MESH:C567509"^^xsd:string) AnnotationAssertion( "BRGDA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110220"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17224476"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611876"^^xsd:string) AnnotationAssertion( "GARD:10362"^^xsd:string) AnnotationAssertion( "MESH:C567508"^^xsd:string) AnnotationAssertion( "BRGDA4"^^xsd:string) AnnotationAssertion( "CACNB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110221"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18464934"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612838"^^xsd:string) AnnotationAssertion( "MESH:C567556"^^xsd:string) AnnotationAssertion( "BRGDA5"^^xsd:string) AnnotationAssertion( "CARDIAC CONDUCTION DEFECT, NONSPECIFIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110222"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19122847"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613119"^^xsd:string) AnnotationAssertion( "ICD10CM:I49.8"^^xsd:string) AnnotationAssertion( "MESH:C567735"^^xsd:string) AnnotationAssertion( "BRGDA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110223"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20031595"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001394"^^xsd:string) AnnotationAssertion( "MIM:613120"^^xsd:string) AnnotationAssertion( "MESH:C567734"^^xsd:string) AnnotationAssertion( "BRGDA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ATFB16"^^xsd:string) AnnotationAssertion( "atrial fibrillation 16"^^xsd:string) AnnotationAssertion( "familial atrial fibrillation 16"^^xsd:string) AnnotationAssertion( "DOID:0110224"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brugada syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19165230"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613123"^^xsd:string) AnnotationAssertion( "MESH:C567732"^^xsd:string) AnnotationAssertion( "BRGDA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110225"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Brugada syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21349352"^^xsd:string) "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616399"^^xsd:string) AnnotationAssertion( "BRGDA9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110226"^^xsd:string) AnnotationAssertion(rdfs:label "Brugada syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 32 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6694185"^^xsd:string) "A cataract that has_material_basis_in mutation in the region 14q22-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115650"^^xsd:string) AnnotationAssertion( "MESH:C538282"^^xsd:string) AnnotationAssertion( "CAP"^^xsd:string) AnnotationAssertion( "CTAA1"^^xsd:string) AnnotationAssertion( "CTPP5"^^xsd:string) AnnotationAssertion( "CTRCT32"^^xsd:string) AnnotationAssertion( "anterior polar cataract"^^xsd:string) AnnotationAssertion( "anterior polar cataract 1"^^xsd:string) AnnotationAssertion( "anterior polar cataract 5"^^xsd:string) AnnotationAssertion( "anterior polar cataract, dominant"^^xsd:string) AnnotationAssertion( "posterior polar cataract 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110227"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 32 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 8 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7607651"^^xsd:string) "A cataract that has_material_basis_in variation in the region 1pter-p36.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115665"^^xsd:string) AnnotationAssertion( "MESH:C538285"^^xsd:string) AnnotationAssertion( "CCV"^^xsd:string) AnnotationAssertion( "CTRCT8"^^xsd:string) AnnotationAssertion( "Cataract Congenital Volkmann Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110228"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 8 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 6 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19005574"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116600"^^xsd:string) AnnotationAssertion( "age-related cortical cataract"^^xsd:string) AnnotationAssertion( "MESH:C535339"^^xsd:string) AnnotationAssertion( "ARCC2"^^xsd:string) AnnotationAssertion( "CTPP1"^^xsd:string) AnnotationAssertion( "CTRCT6"^^xsd:string) AnnotationAssertion( "age-cortical cataract 2"^^xsd:string) AnnotationAssertion( "age-related cortical cataract 2"^^xsd:string) AnnotationAssertion( "age-related cortical cataract 6"^^xsd:string) AnnotationAssertion( "posterior polar cataract 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110229"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 6 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 34 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17893665"^^xsd:string) "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612968"^^xsd:string) AnnotationAssertion( "RDO:0012056"^^xsd:string) AnnotationAssertion( "MESH:C567835"^^xsd:string) AnnotationAssertion( "CATC3"^^xsd:string) AnnotationAssertion( "CTRCT34"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital cataract 3"^^xsd:string) AnnotationAssertion( "cataract 34 multiple types with or without microcornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110230"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 34 multiple types"^^xsd:string) SubClassOf( ) # Class: (cataract 1 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9497259"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116200"^^xsd:string) AnnotationAssertion( "MESH:C566158"^^xsd:string) AnnotationAssertion( "CAE1"^^xsd:string) AnnotationAssertion( "CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA"^^xsd:string) AnnotationAssertion( "CTRCT1"^^xsd:string) AnnotationAssertion( "CZP"^^xsd:string) AnnotationAssertion( "CZP1"^^xsd:string) AnnotationAssertion( "Cataract, Duffy-Linked"^^xsd:string) AnnotationAssertion( "Cataract, Zonular Pulverulent 1"^^xsd:string) AnnotationAssertion( "Pulverulent Zonular Cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110231"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 1 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15933805"^^xsd:string) "A cataract that has_material_basis_in variation in the region 2pter-p24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:115800"^^xsd:string) AnnotationAssertion( "ORDO:98990"^^xsd:string) AnnotationAssertion( "cataract 29 coralliform"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110232"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12091400"^^xsd:string) "A cataract that has_material_basis_in mutation in the region 2p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607304"^^xsd:string) AnnotationAssertion( "MESH:C564596"^^xsd:string) AnnotationAssertion( "CCNP"^^xsd:string) AnnotationAssertion( "CTRCT27"^^xsd:string) AnnotationAssertion( "Cataract, Congenital, Nuclear Progressive"^^xsd:string) AnnotationAssertion( "cataract 27 nuclear progressive"^^xsd:string) AnnotationAssertion( "nuclear progressive cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110233"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 4 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9927684"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563819"^^xsd:string) AnnotationAssertion( "MESH:C565131"^^xsd:string) AnnotationAssertion( "MIM:115700"^^xsd:string) AnnotationAssertion( "CACA"^^xsd:string) AnnotationAssertion( "CCA3"^^xsd:string) AnnotationAssertion( "CTRCT4"^^xsd:string) AnnotationAssertion( "PCC"^^xsd:string) AnnotationAssertion( "cataract 4"^^xsd:string) AnnotationAssertion( "cataract 4, multiple types, with or without microcornea"^^xsd:string) AnnotationAssertion( "congenital blue dot type cataract, 3"^^xsd:string) AnnotationAssertion( "congenital cataract, cerulean type 3"^^xsd:string) AnnotationAssertion( "nonnuclear polymorphic congenital cataract"^^xsd:string) AnnotationAssertion( "punctate cataract, progressive juvenile-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110234"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 4 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 2 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10521291"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565133"^^xsd:string) AnnotationAssertion( "MIM:604307"^^xsd:string) AnnotationAssertion( "CATARACT 2, COPPOCK-LIKE"^^xsd:string) AnnotationAssertion( "CCL"^^xsd:string) AnnotationAssertion( "CRYGC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CTRCT2"^^xsd:string) AnnotationAssertion( "Cataract, Coppock-Like"^^xsd:string) AnnotationAssertion( "Cataract, Embryonic Nuclear"^^xsd:string) AnnotationAssertion( "cataract 2 multiple types with or without microcornea"^^xsd:string) AnnotationAssertion( "nuclear pulverulent cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110235"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 2 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 39 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23288985"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615188"^^xsd:string) AnnotationAssertion( "CTRCT39"^^xsd:string) AnnotationAssertion( "autosomal dominant cataract 39 multiple types"^^xsd:string) AnnotationAssertion( "autosomal dominant cataract, multiple types 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110236"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 39 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 42) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23508780/"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115900"^^xsd:string) AnnotationAssertion( "CRYBA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CTRCT42"^^xsd:string) AnnotationAssertion( "DOID:0110237"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21636066"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610019"^^xsd:string) AnnotationAssertion( "MESH:C535337"^^xsd:string) AnnotationAssertion( "CATC2"^^xsd:string) AnnotationAssertion( "CTRCT18"^^xsd:string) AnnotationAssertion( "FYCO1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital cataract 2"^^xsd:string) AnnotationAssertion( "cataract 18 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110238"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 12 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10729115"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611597"^^xsd:string) AnnotationAssertion( "MESH:C566909"^^xsd:string) AnnotationAssertion( "BFSP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CTRCT12"^^xsd:string) AnnotationAssertion( "autosomal dominant cataract, multiple types 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110239"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 12 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 20 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16141006"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116100"^^xsd:string) AnnotationAssertion( "CTRCT20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110240"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 20 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23531866"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116400"^^xsd:string) AnnotationAssertion( "MESH:C566156"^^xsd:string) AnnotationAssertion( "CTRCT41"^^xsd:string) AnnotationAssertion( "Cataract 41, Congenital Nuclear Type"^^xsd:string) AnnotationAssertion( "Cataract, Nuclear Total"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110241"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 13 with adult i phenotype) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11739194"^^xsd:string) "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:110800"^^xsd:string) AnnotationAssertion( "MIM:116700"^^xsd:string) AnnotationAssertion( "MESH:C566214"^^xsd:string) AnnotationAssertion( "ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT"^^xsd:string) AnnotationAssertion( "Adult i Blood Group with Congenital Cataract"^^xsd:string) AnnotationAssertion( "CTRCT13"^^xsd:string) AnnotationAssertion( "adult i blood group phenotype"^^xsd:string) AnnotationAssertion( "Adult i Blood Group without Congenital Cataract"^^xsd:string) AnnotationAssertion( "adult i phenotype without cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "I BLOOD GROUP SYSTEM"^^xsd:string) AnnotationAssertion( "DOID:0110242"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 13 with adult i phenotype"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 46 juvenile-onset) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26788539"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538286"^^xsd:string) AnnotationAssertion( "MIM:212500"^^xsd:string) AnnotationAssertion( "MONDO:0008925"^^xsd:string) AnnotationAssertion( "CTRCT46"^^xsd:string) AnnotationAssertion( "cataract, Hutterite type"^^xsd:string) AnnotationAssertion( "juvenilae cataract Hutterite type"^^xsd:string) AnnotationAssertion( "juvenile cataract, Hutterite type"^^xsd:string) AnnotationAssertion( "juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110243"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 46 juvenile-onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15452352"^^xsd:string) "A cataract that has_material_basis_in variation in the region 6p12-q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609026"^^xsd:string) AnnotationAssertion( "MESH:C563812"^^xsd:string) AnnotationAssertion( "ARCC1"^^xsd:string) AnnotationAssertion( "CTRCT28"^^xsd:string) AnnotationAssertion( "age-related cortical cataract 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CATARACT, AGE-CORTICAL, 1"^^xsd:string) AnnotationAssertion( "DOID:0110244"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 28"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22415731"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614691"^^xsd:string) AnnotationAssertion( "AGK-related disorder"^^xsd:string) AnnotationAssertion( "AGK-related disorders"^^xsd:string) AnnotationAssertion( "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5"^^xsd:string) AnnotationAssertion( "CATC5"^^xsd:string) AnnotationAssertion( "CTRCT38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110245"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 26 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11179024"^^xsd:string) "A cataract that has_material_basis_in variation in the region 9q13-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605749"^^xsd:string) AnnotationAssertion( "MESH:C565298"^^xsd:string) AnnotationAssertion( "CAAR"^^xsd:string) AnnotationAssertion( "CTRCT26"^^xsd:string) AnnotationAssertion( "Cataract, Autosomal Recessive, Early-Onset, Pulverulent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110246"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 26 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21436445"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613887"^^xsd:string) AnnotationAssertion( "CATC4"^^xsd:string) AnnotationAssertion( "CTRCT36"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital cataract 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110247"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 36"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19126778"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566157"^^xsd:string) AnnotationAssertion( "MIM:116300"^^xsd:string) AnnotationAssertion( "ORDO:98984"^^xsd:string) AnnotationAssertion( "CATARACT 30, MULTIPLE TYPES"^^xsd:string) AnnotationAssertion( "CTRCT30"^^xsd:string) AnnotationAssertion( "Cataract 30, pulverulent"^^xsd:string) AnnotationAssertion( "Cataract, Nuclear Diffuse Nonprogressive"^^xsd:string) AnnotationAssertion( "Dusty cataract"^^xsd:string) AnnotationAssertion( "cataract Coppock-like"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110248"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 11 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9620774"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "PITX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C535344"^^xsd:string) AnnotationAssertion( "MIM:610623"^^xsd:string) AnnotationAssertion( "MONDO:0012527"^^xsd:string) AnnotationAssertion( "CATARACT 11, POSTERIOR POLAR"^^xsd:string) AnnotationAssertion( "CPP4"^^xsd:string) AnnotationAssertion( "CTPP4"^^xsd:string) AnnotationAssertion( "CTRCT11"^^xsd:string) AnnotationAssertion( "posterior polar cataract 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110249"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 11 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 16 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11577372"^^xsd:string) "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565134"^^xsd:string) AnnotationAssertion( "MIM:613763"^^xsd:string) AnnotationAssertion( "CATARACT, CONGENITAL LAMELLAR"^^xsd:string) AnnotationAssertion( "CTRCT16"^^xsd:string) AnnotationAssertion( "CTPP2"^^xsd:string) AnnotationAssertion( "posterior polar cataract 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110250"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 16 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 15 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10802646"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615274"^^xsd:string) AnnotationAssertion( "CTRCT15"^^xsd:string) AnnotationAssertion( "MIP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110251"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 15 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21731060"^^xsd:string) "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614422"^^xsd:string) AnnotationAssertion( "CCA5"^^xsd:string) AnnotationAssertion( "CTRCT37"^^xsd:string) AnnotationAssertion( "congenital cataract cerulean type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110252"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 37"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 14 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9199569"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566608"^^xsd:string) AnnotationAssertion( "MIM:601885"^^xsd:string) AnnotationAssertion( "MONDO:0011162"^^xsd:string) AnnotationAssertion( "CAE3"^^xsd:string) AnnotationAssertion( "CTRCT14"^^xsd:string) AnnotationAssertion( "CZP3"^^xsd:string) AnnotationAssertion( "zonular pulverulent cataract 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110253"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 14 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11133359"^^xsd:string) "A cataract that has_material_basis_in variation in the region 15q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605728"^^xsd:string) AnnotationAssertion( "MESH:C565301"^^xsd:string) AnnotationAssertion( "ORDO:98985"^^xsd:string) AnnotationAssertion( "CCSSO"^^xsd:string) AnnotationAssertion( "CTRCT25"^^xsd:string) AnnotationAssertion( "central pouch-like cataract with sutural opacities"^^xsd:string) AnnotationAssertion( "central saccular cataract with sutural opacities"^^xsd:string) AnnotationAssertion( "early-onset cataract with Y-shaped suture opacities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110254"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 5 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12089525"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116800"^^xsd:string) AnnotationAssertion( "OMIA:001758"^^xsd:string) AnnotationAssertion( "MESH:C535342"^^xsd:string) AnnotationAssertion( "CAM"^^xsd:string) AnnotationAssertion( "CTM"^^xsd:string) AnnotationAssertion( "CTRCT5"^^xsd:string) AnnotationAssertion( "Cataract, Marner Type"^^xsd:string) AnnotationAssertion( "early onset cataract"^^xsd:string) AnnotationAssertion( "lamellar cataract"^^xsd:string) AnnotationAssertion( "perinuclear cataract"^^xsd:string) AnnotationAssertion( "zonular cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110255"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 5 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 21 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11772997"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610202"^^xsd:string) AnnotationAssertion( "MESH:C565703"^^xsd:string) AnnotationAssertion( "CCA4"^^xsd:string) AnnotationAssertion( "CTRCT21"^^xsd:string) AnnotationAssertion( "cataract 21 multiple types, with or without microcornea"^^xsd:string) AnnotationAssertion( "congenital cataract, cerulean type, 4"^^xsd:string) AnnotationAssertion( "pulverulent cataract, juvenile-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110256"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 21 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8852669"^^xsd:string) "A cataract that has_material_basis_in variation in the region 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601202"^^xsd:string) AnnotationAssertion( "MESH:C537774"^^xsd:string) AnnotationAssertion( "CTRCT24"^^xsd:string) AnnotationAssertion( "CTAA2"^^xsd:string) AnnotationAssertion( "anterior polar cataract 2"^^xsd:string) AnnotationAssertion( "anterior polar cataract 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110257"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 10 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7573044"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600881"^^xsd:string) AnnotationAssertion( "MESH:C563435"^^xsd:string) AnnotationAssertion( "CTRCT10"^^xsd:string) AnnotationAssertion( "CCZS"^^xsd:string) AnnotationAssertion( "congenital zonular cataract with sutural opacities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110258"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 10 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24549050"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616279"^^xsd:string) AnnotationAssertion( "CTRCT43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110259"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 43"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7704021"^^xsd:string) "A cataract that has_material_basis_in variation in the region 17q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115660"^^xsd:string) AnnotationAssertion( "MESH:C537955"^^xsd:string) AnnotationAssertion( "CATARACT 7, CERULEAN TYPE"^^xsd:string) AnnotationAssertion( "CCA1"^^xsd:string) AnnotationAssertion( "CTRCT7"^^xsd:string) AnnotationAssertion( "Cerulean Cataract"^^xsd:string) AnnotationAssertion( "congenital cataract, blue dot type 1"^^xsd:string) AnnotationAssertion( "congenital cataract, cerulean type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110260"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15671291"^^xsd:string) "A cataract that has_material_basis_in variation in the region 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609376"^^xsd:string) AnnotationAssertion( "MESH:C563728"^^xsd:string) AnnotationAssertion( "CATCN1"^^xsd:string) AnnotationAssertion( "CTRCT35"^^xsd:string) AnnotationAssertion( "autosomal recessive congenital nuclear cataract 1"^^xsd:string) AnnotationAssertion( "cataract 35, congenital nuclear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110261"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 35"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 45) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25804400"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616851"^^xsd:string) AnnotationAssertion( "CTRCT45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110262"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 19 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11917274"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q12.0"^^xsd:string) AnnotationAssertion( "MIM:615277"^^xsd:string) AnnotationAssertion( "CATARACT 19"^^xsd:string) AnnotationAssertion( "CTRCT19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110263"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 19 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17225135"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611391"^^xsd:string) AnnotationAssertion( "MESH:C566955"^^xsd:string) AnnotationAssertion( "CATARACT 33, MULTIPLE TYPES"^^xsd:string) AnnotationAssertion( "CTRCT33"^^xsd:string) AnnotationAssertion( "cortical cataract 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cortical cataract, juvenile-onset"^^xsd:string) AnnotationAssertion( "DOID:0110264"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 33"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 31 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17701905"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605387"^^xsd:string) AnnotationAssertion( "MESH:C535343"^^xsd:string) AnnotationAssertion( "CPP3"^^xsd:string) AnnotationAssertion( "CTPP3"^^xsd:string) AnnotationAssertion( "CTRCT31"^^xsd:string) AnnotationAssertion( "posterior polar cataract 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110265"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 31 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 9 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26867756"^^xsd:string) Annotation( "https://www.omim.org/entry/604219"^^xsd:string) "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604219"^^xsd:string) AnnotationAssertion( "MESH:C565815"^^xsd:string) AnnotationAssertion( "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1"^^xsd:string) AnnotationAssertion( "CATC1"^^xsd:string) AnnotationAssertion( "CTRCT9"^^xsd:string) AnnotationAssertion( "Cataract 9, multiple types, with or without microcornea"^^xsd:string) AnnotationAssertion( "CATARACT 9, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Cataract, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Cataract, autosomal dominant, multiple types, with microcornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110266"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 9 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26200341"^^xsd:string) "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616509"^^xsd:string) AnnotationAssertion( "ORDO:98994"^^xsd:string) AnnotationAssertion( "CTRCT44"^^xsd:string) AnnotationAssertion( "congenital cataract-44"^^xsd:string) AnnotationAssertion( "total early-onset cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110267"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 22 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15914629"^^xsd:string) "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609741"^^xsd:string) AnnotationAssertion( "MESH:C565725"^^xsd:string) AnnotationAssertion( "CATCN2"^^xsd:string) AnnotationAssertion( "CTRCT22"^^xsd:string) AnnotationAssertion( "Cataract, Congenital Nuclear, Autosomal Recessive 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110268"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 22 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 3 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9158139"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563294"^^xsd:string) AnnotationAssertion( "MIM:601547"^^xsd:string) AnnotationAssertion( "MONDO:0011104"^^xsd:string) AnnotationAssertion( "CTRCT3"^^xsd:string) AnnotationAssertion( "Cataract, Congenital, Blue Dot Type, 2"^^xsd:string) AnnotationAssertion( "cataract 3 multiple types with or without microcornea"^^xsd:string) AnnotationAssertion( "CCA2"^^xsd:string) AnnotationAssertion( "congenital Cerulean type cataract 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110269"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 3 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract 17 multiple types) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12360425"^^xsd:string) "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611544"^^xsd:string) AnnotationAssertion( "MESH:C566923"^^xsd:string) AnnotationAssertion( "CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA"^^xsd:string) AnnotationAssertion( "CATCN3"^^xsd:string) AnnotationAssertion( "CTRCT17"^^xsd:string) AnnotationAssertion( "Cataract, Congenital Nuclear, Autosomal Recessive 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110270"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 17 multiple types"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cataract 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16960806"^^xsd:string) "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610425"^^xsd:string) AnnotationAssertion( "CTRCT23"^^xsd:string) AnnotationAssertion( "cataract 23, multiple types"^^xsd:string) AnnotationAssertion( "cataract 23, multiple types, with or without microcornea"^^xsd:string) AnnotationAssertion( "lamellar cataract 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110271"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 23"^^xsd:string) SubClassOf( ) # Class: (cataract 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15370543"^^xsd:string) "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:302200"^^xsd:string) AnnotationAssertion( "NHS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C535338"^^xsd:string) AnnotationAssertion( "CATARACT 40 WITH OR WITHOUT MICROCORNEA"^^xsd:string) AnnotationAssertion( "CCT"^^xsd:string) AnnotationAssertion( "CTRCT40"^^xsd:string) AnnotationAssertion( "CXN"^^xsd:string) AnnotationAssertion( "Cataract, total congenital with posterior sutural opacities in Heterozygotes"^^xsd:string) AnnotationAssertion( "X-linked congenital cataract"^^xsd:string) AnnotationAssertion( "cataract 40, X-linked"^^xsd:string) AnnotationAssertion( "congenital cataract with microcornea or slight microphthalmia"^^xsd:string) AnnotationAssertion( "total congenital cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110272"^^xsd:string) AnnotationAssertion(rdfs:label "cataract 40"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant limb-girdle muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3275904"^^xsd:string) "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS603511"^^xsd:string) AnnotationAssertion( "ORDO:102014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110273"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant limb-girdle muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13810212"^^xsd:string) "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538640"^^xsd:string) AnnotationAssertion( "MIM:PS253600"^^xsd:string) AnnotationAssertion( "ORDO:102015"^^xsd:string) AnnotationAssertion( "recessive limb-girdle muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110274"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7720071"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "CAPN3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "EFO:0000310"^^xsd:string) AnnotationAssertion( "GARD:3845"^^xsd:string) AnnotationAssertion( "MESH:C535895"^^xsd:string) AnnotationAssertion( "MIM:253600"^^xsd:string) AnnotationAssertion( "MONDO:0009675"^^xsd:string) AnnotationAssertion( "NCI:C142079"^^xsd:string) AnnotationAssertion( "ORDO:267"^^xsd:string) AnnotationAssertion( "LGMD2"^^xsd:string) AnnotationAssertion( "LGMD2A"^^xsd:string) AnnotationAssertion( "LGMDR1"^^xsd:string) AnnotationAssertion( "Leyden-Moebius muscular dystrophy"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy, 1"^^xsd:string) AnnotationAssertion( "calpainopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to calpain deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2A"^^xsd:string) AnnotationAssertion( "pelvofemoral muscular dystrophy"^^xsd:string) AnnotationAssertion( "primary calpainopathy"^^xsd:string) AnnotationAssertion( "eosinophilic myositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110275"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2A"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731527"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253601"^^xsd:string) AnnotationAssertion( "RDO:0001264"^^xsd:string) AnnotationAssertion( "MESH:C535899"^^xsd:string) AnnotationAssertion( "NCI:C142080"^^xsd:string) AnnotationAssertion( "ORDO:268"^^xsd:string) AnnotationAssertion( "LGMD2B"^^xsd:string) AnnotationAssertion( "LGMD3"^^xsd:string) AnnotationAssertion( "LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B"^^xsd:string) AnnotationAssertion( "Muscular dystrophy, limb-girdle, type 3"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to dysferlin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110276"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2B"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7481775"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253700"^^xsd:string) AnnotationAssertion( "MESH:C535900"^^xsd:string) AnnotationAssertion( "ORDO:353"^^xsd:string) AnnotationAssertion( "DMDA"^^xsd:string) AnnotationAssertion( "DMDA1"^^xsd:string) AnnotationAssertion( "Duchenne-like muscular dystrophy, autosomal recessive, type 1"^^xsd:string) AnnotationAssertion( "LGMD2C"^^xsd:string) AnnotationAssertion( "LGMDR5"^^xsd:string) AnnotationAssertion( "Maghrebian myopathy"^^xsd:string) AnnotationAssertion( "Muscular dystrophy, Duchenne-like"^^xsd:string) AnnotationAssertion( "SARCOGLYCAN, GAMMA, DEFICIENCY OF"^^xsd:string) AnnotationAssertion( "SCARMD"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 5"^^xsd:string) AnnotationAssertion( "gamma-sarcoglycanopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle, type 2C"^^xsd:string) AnnotationAssertion( "secondary adhalin deficiency"^^xsd:string) AnnotationAssertion( "severe autosomal recessive muscular dystrophy of childhood - North African type"^^xsd:string) AnnotationAssertion( "severe childhood autosomal recessive muscular dystrophy, North African type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110277"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2C"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2D) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30055862"^^xsd:string) Annotation( "https://www.omim.org/entry/608099"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608099"^^xsd:string) AnnotationAssertion( "MESH:D058088"^^xsd:string) AnnotationAssertion( "NCI:C142081"^^xsd:string) AnnotationAssertion( "ORDO:62"^^xsd:string) AnnotationAssertion( "DMDA2"^^xsd:string) AnnotationAssertion( "Duchenne-like autosomal recessive muscular dystrophy type 2"^^xsd:string) AnnotationAssertion( "LGMD2D"^^xsd:string) AnnotationAssertion( "LGMDR3"^^xsd:string) AnnotationAssertion( "adhalinopathies"^^xsd:string) AnnotationAssertion( "alpha-sarcoglycanopathies"^^xsd:string) AnnotationAssertion( "alpha-sarcoglycanopathy"^^xsd:string) AnnotationAssertion( "limb girdle muscular dystrophy with alpha sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "limb girdle muscular dystrophy, type 2D"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, autosomal recessive 3"^^xsd:string) AnnotationAssertion( "primary adhalinopathies"^^xsd:string) AnnotationAssertion( "primary adhalinopathy"^^xsd:string) AnnotationAssertion( "sarcoglycanopathies"^^xsd:string) AnnotationAssertion( "sarcoglycanopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110278"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2D"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7581448"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535435"^^xsd:string) AnnotationAssertion( "MIM:604286"^^xsd:string) AnnotationAssertion( "MESH:C535902"^^xsd:string) AnnotationAssertion( "NCI:C180849"^^xsd:string) AnnotationAssertion( "ORDO:119"^^xsd:string) AnnotationAssertion( "LGMD2E"^^xsd:string) AnnotationAssertion( "LGMDR4"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 4"^^xsd:string) AnnotationAssertion( "beta-sarcoglycan limb-girdle muscular dystrophy"^^xsd:string) AnnotationAssertion( "beta-sarcoglycanopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy with beta-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle, type 2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110279"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2E"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8841194"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)"^^xsd:string) AnnotationAssertion( "MIM:601287"^^xsd:string) AnnotationAssertion( "OMIA:002122"^^xsd:string) AnnotationAssertion( "MESH:C535896"^^xsd:string) AnnotationAssertion( "ORDO:219"^^xsd:string) AnnotationAssertion( "DELTA-SARCOGLYCANOPATHY"^^xsd:string) AnnotationAssertion( "LGMD2F"^^xsd:string) AnnotationAssertion( "LGMDR6"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 6"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy 2F"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2F"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy with delta-sarcoglyan deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 6, digenic"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2f, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110280"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2F"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10655062"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)"^^xsd:string) AnnotationAssertion( "MIM:601954"^^xsd:string) AnnotationAssertion( "RDO:0014912"^^xsd:string) AnnotationAssertion( "MESH:C566599"^^xsd:string) AnnotationAssertion( "ORDO:34514"^^xsd:string) AnnotationAssertion( "LGMD2G"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to telethonin deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle, type 2G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110281"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2G"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11822024"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. (DO)"^^xsd:string) AnnotationAssertion( "TRIM32-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3844"^^xsd:string) AnnotationAssertion( "MESH:C535897"^^xsd:string) AnnotationAssertion( "MIM:254110"^^xsd:string) AnnotationAssertion( "MONDO:0009683"^^xsd:string) AnnotationAssertion( "ORDO:1878"^^xsd:string) AnnotationAssertion( "LGMD2H"^^xsd:string) AnnotationAssertion( "LGMDR8"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to TRIM32 deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2H"^^xsd:string) AnnotationAssertion( "muscular dystrophy Hutterite type"^^xsd:string) AnnotationAssertion( "sarcotubular myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110282"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2H"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12145747"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)"^^xsd:string) AnnotationAssertion( "MIM:608807"^^xsd:string) AnnotationAssertion( "RDO:0013004"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.0"^^xsd:string) AnnotationAssertion( "MESH:C563854"^^xsd:string) AnnotationAssertion( "ORDO:140922"^^xsd:string) AnnotationAssertion( "LGMD2J"^^xsd:string) AnnotationAssertion( "LGMDR10"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"^^xsd:string) AnnotationAssertion( "muscular dystrophy, limb-girdle, type 2J"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110283"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2J"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2L) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20096397"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611307"^^xsd:string) AnnotationAssertion( "MESH:C566968"^^xsd:string) AnnotationAssertion( "ORDO:206549"^^xsd:string) AnnotationAssertion( "LGMD2L"^^xsd:string) AnnotationAssertion( "anoctaminopathy"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2L"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110284"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2L"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2Q) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21109228"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613723"^^xsd:string) AnnotationAssertion( "ORDO:254361"^^xsd:string) AnnotationAssertion( "LGMD2Q"^^xsd:string) AnnotationAssertion( "LGMDR17"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 17"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2Q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110285"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2S) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23830518"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615356"^^xsd:string) AnnotationAssertion( "MONDO:0014144"^^xsd:string) AnnotationAssertion( "ORDO:369840"^^xsd:string) AnnotationAssertion( "LGMD2S"^^xsd:string) AnnotationAssertion( "LGMDR18"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, autosomal recessive 18"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2S"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110287"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2S"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2W) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25589244"^^xsd:string) Annotation( "https://www.omim.org/entry/616827"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616827"^^xsd:string) AnnotationAssertion( "ORDO:466801"^^xsd:string) AnnotationAssertion( "LGMD2W"^^xsd:string) AnnotationAssertion( "autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2W"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110288"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2W"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2Y) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24856141"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617072"^^xsd:string) AnnotationAssertion( "NCI:C181000"^^xsd:string) AnnotationAssertion( "ORDO:424261"^^xsd:string) AnnotationAssertion( "LGMD2Y"^^xsd:string) AnnotationAssertion( "MRRSDC"^^xsd:string) AnnotationAssertion( "autosomal recessive muscular dystrophy due to LAP1B deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive myopathy with rigid spine and distal joint contractures"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2Y"^^xsd:string) AnnotationAssertion( "muscular dystrophy with progressive weakness, distal contractures and rigid spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110289"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2Y"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2X) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26642364"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616812"^^xsd:string) AnnotationAssertion( "ORDO:476084"^^xsd:string) AnnotationAssertion( "CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE"^^xsd:string) AnnotationAssertion( "CARICK"^^xsd:string) AnnotationAssertion( "LGMD2X"^^xsd:string) AnnotationAssertion( "LGMDR25"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, autosomal recessive 25"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110290"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2X"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16909394"^^xsd:string) "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565720"^^xsd:string) AnnotationAssertion( "MIM:611755"^^xsd:string) AnnotationAssertion( "MONDO:0012723"^^xsd:string) AnnotationAssertion( "LCA10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110291"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2O) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18195152"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613157"^^xsd:string) AnnotationAssertion( "ORDO:206564"^^xsd:string) AnnotationAssertion( "LGMD2O"^^xsd:string) AnnotationAssertion( "LGMDR15"^^xsd:string) AnnotationAssertion( "MDDGC3"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 15"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110292"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2O"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2P) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21388311"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000584"^^xsd:string) AnnotationAssertion( "MIM:613818"^^xsd:string) AnnotationAssertion( "ORDO:280333"^^xsd:string) AnnotationAssertion( "LGMD2P"^^xsd:string) AnnotationAssertion( "MDDGC9"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110293"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2P"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2T) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23768512"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615352"^^xsd:string) AnnotationAssertion( "ORDO:363623"^^xsd:string) AnnotationAssertion( "LGMD2T"^^xsd:string) AnnotationAssertion( "MDDGC14"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 2T"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110294"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2T"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2U) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23390185"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616052"^^xsd:string) AnnotationAssertion( "ORDO:352479"^^xsd:string) AnnotationAssertion( "LGMD2U"^^xsd:string) AnnotationAssertion( "MDDGC7"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 2U"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110295"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2U"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2M) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17044012"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611588"^^xsd:string) AnnotationAssertion( "MESH:C566912"^^xsd:string) AnnotationAssertion( "ORDO:206554"^^xsd:string) AnnotationAssertion( "LGMD2M"^^xsd:string) AnnotationAssertion( "LGMDR13"^^xsd:string) AnnotationAssertion( "MDDGC4"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 13"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 2M"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, type C4"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110296"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2M"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2K) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15792865"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009145"^^xsd:string) AnnotationAssertion( "MIM:609308"^^xsd:string) AnnotationAssertion( "NCI:C133730"^^xsd:string) AnnotationAssertion( "ORDO:86812"^^xsd:string) AnnotationAssertion( "LGMD2K"^^xsd:string) AnnotationAssertion( "LGMDR11"^^xsd:string) AnnotationAssertion( "MDDGC1"^^xsd:string) AnnotationAssertion( "POMT1-related muscle-eye-brain disease"^^xsd:string) AnnotationAssertion( "POMT1-related muscle-eye-brain diseases"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 11"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2K"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, type C1"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110297"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2K"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2N) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17878207"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613158"^^xsd:string) AnnotationAssertion( "ORDO:206559"^^xsd:string) AnnotationAssertion( "LGMD2N"^^xsd:string) AnnotationAssertion( "LGMDR14"^^xsd:string) AnnotationAssertion( "MDDGC2"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, autosomal recessive 14"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2N"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, type C2"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110298"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2N"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive limb-girdle muscular dystrophy type 2I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11592034"^^xsd:string) "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607155"^^xsd:string) AnnotationAssertion( "MESH:C564612"^^xsd:string) AnnotationAssertion( "NCI:C126739"^^xsd:string) AnnotationAssertion( "ORDO:34515"^^xsd:string) AnnotationAssertion( "LGMD2I"^^xsd:string) AnnotationAssertion( "LGMDR9"^^xsd:string) AnnotationAssertion( "MDDGC5"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy 9"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy due to FKRP deficiency"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy, type 2I"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy, type C5"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110299"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2I"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal dominant limb-girdle muscular dystrophy type 1H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20068593"^^xsd:string) "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613530"^^xsd:string) AnnotationAssertion( "ORDO:238755"^^xsd:string) AnnotationAssertion( "LGMD1H"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110303"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1H"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant limb-girdle muscular dystrophy type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23543484"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23667635"^^xsd:string) "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608423"^^xsd:string) AnnotationAssertion( "RDO:0013268"^^xsd:string) AnnotationAssertion( "MESH:C564242"^^xsd:string) AnnotationAssertion( "ORDO:55595"^^xsd:string) AnnotationAssertion( "LGMD1F"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1F"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110304"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 2"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant limb-girdle muscular dystrophy type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22334415"^^xsd:string) "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566370"^^xsd:string) AnnotationAssertion( "MESH:C566589"^^xsd:string) AnnotationAssertion( "MIM:603511"^^xsd:string) AnnotationAssertion( "ORDO:34517"^^xsd:string) AnnotationAssertion( "LGMD1D"^^xsd:string) AnnotationAssertion( "LGMD1E"^^xsd:string) AnnotationAssertion( "LGMDD1"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy 1"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1E"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1D"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110305"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant limb-girdle muscular dystrophy type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24647604"^^xsd:string) "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609115"^^xsd:string) AnnotationAssertion( "RDO:0012962"^^xsd:string) AnnotationAssertion( "MESH:C563794"^^xsd:string) AnnotationAssertion( "ORDO:55596"^^xsd:string) AnnotationAssertion( "LGMD1G"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy type 1G"^^xsd:string) AnnotationAssertion( "muscular dystrophy limb-girdle type 1G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110306"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant limb-girdle muscular dystrophy type 3"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1975517"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110325"^^xsd:string) AnnotationAssertion( "MIM:192600"^^xsd:string) AnnotationAssertion( "MESH:C566005"^^xsd:string) AnnotationAssertion( "ASH"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC"^^xsd:string) AnnotationAssertion( "CMH"^^xsd:string) AnnotationAssertion( "CMH1"^^xsd:string) AnnotationAssertion( "asymmetric septal hypertrophy"^^xsd:string) AnnotationAssertion( "cardiomyopathy, familial hypertrophic 1"^^xsd:string) AnnotationAssertion( "hypertrophic cardiomyopathy 19"^^xsd:string) AnnotationAssertion( "idiopathic hypertrophic subaortic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110307"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 1"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8205619"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). (DO)"^^xsd:string) AnnotationAssertion( "MIM:115195"^^xsd:string) AnnotationAssertion( "MESH:C566171"^^xsd:string) AnnotationAssertion( "CMH2"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110308"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 2"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8205619"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115196"^^xsd:string) AnnotationAssertion( "TPM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566170"^^xsd:string) AnnotationAssertion( "CMH3"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110309"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 3"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493025"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493026"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115197"^^xsd:string) AnnotationAssertion( "MYBPC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566169"^^xsd:string) AnnotationAssertion( "RDO:0014607"^^xsd:string) AnnotationAssertion( "CMH4"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0110310"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 4"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16651466"^^xsd:string) "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614676"^^xsd:string) AnnotationAssertion( "CMH21"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110311"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 21"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11586962"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). (DO)"^^xsd:string) AnnotationAssertion( "MIM:600858"^^xsd:string) AnnotationAssertion( "MESH:C563436"^^xsd:string) AnnotationAssertion( "CMH6"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110312"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 6"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9241277"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613690"^^xsd:string) AnnotationAssertion( "CMH7"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110313"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 7"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8673105"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608751"^^xsd:string) AnnotationAssertion( "MESH:C563866"^^xsd:string) AnnotationAssertion( "RDO:0013011"^^xsd:string) AnnotationAssertion( "CMH8"^^xsd:string) AnnotationAssertion( "cardiomyopathy hypertrophic mid-left ventricular chamber type 1"^^xsd:string) AnnotationAssertion( "cardiomyopathy, familial hypertrophic, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110314"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 8"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10462489"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613765"^^xsd:string) AnnotationAssertion( "MESH:C566044"^^xsd:string) AnnotationAssertion( "RDO:0014519"^^xsd:string) AnnotationAssertion( "CMH9"^^xsd:string) AnnotationAssertion( "cardiomyopathy, familial hypertrophic, 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110315"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 9"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8673105"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608758"^^xsd:string) AnnotationAssertion( "MESH:C563865"^^xsd:string) AnnotationAssertion( "CMH10"^^xsd:string) AnnotationAssertion( "Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2"^^xsd:string) AnnotationAssertion( "FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110316"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 10"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10330430"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612098"^^xsd:string) AnnotationAssertion( "MESH:C567419"^^xsd:string) AnnotationAssertion( "CMH11"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110317"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 11"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12642359"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "CSRP3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:612124"^^xsd:string) AnnotationAssertion( "CMH12"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110318"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 12"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11385718"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613243"^^xsd:string) AnnotationAssertion( "MESH:C567686"^^xsd:string) AnnotationAssertion( "CMH13"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110319"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 13"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11815426"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613251"^^xsd:string) AnnotationAssertion( "MESH:C567684"^^xsd:string) AnnotationAssertion( "CMH14"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110320"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 14"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16712796"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613255"^^xsd:string) AnnotationAssertion( "VCL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567681"^^xsd:string) AnnotationAssertion( "CMH15"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110321"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 15"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17347475"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613838"^^xsd:string) AnnotationAssertion( "MONDO:0013455"^^xsd:string) AnnotationAssertion( "CMH16"^^xsd:string) AnnotationAssertion( "MYOZ2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110322"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 16"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17509612"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)"^^xsd:string) AnnotationAssertion( "JPH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613873"^^xsd:string) AnnotationAssertion( "CMH17"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110323"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 17"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12705874"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613874"^^xsd:string) AnnotationAssertion( "CMH18"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110324"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 18"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hypertrophic cardiomyopathy 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20970104"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. (DO)"^^xsd:string) AnnotationAssertion( "NEXN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613876"^^xsd:string) AnnotationAssertion( "CMH20"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110326"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 20"^^xsd:string) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25351925"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617047"^^xsd:string) AnnotationAssertion( "CMH26"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15"^^xsd:string) AnnotationAssertion( "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15"^^xsd:string) AnnotationAssertion( "ARVC15"^^xsd:string) AnnotationAssertion( "ARVD15"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, DILATED, 1PP"^^xsd:string) AnnotationAssertion( "CMD1PP"^^xsd:string) AnnotationAssertion( "RCM5"^^xsd:string) AnnotationAssertion( "familial restrictive cardiomyopathy 5"^^xsd:string) AnnotationAssertion( "DOID:0110327"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypertrophic cardiomyopathy 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15582318"^^xsd:string) "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564388"^^xsd:string) AnnotationAssertion( "MIM:607487"^^xsd:string) AnnotationAssertion( "MONDO:0011843"^^xsd:string) AnnotationAssertion( "CMH25"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 25"^^xsd:string) AnnotationAssertion( "CMD1N"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy 1N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110328"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11283794"^^xsd:string) "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613826"^^xsd:string) AnnotationAssertion( "MESH:C565327"^^xsd:string) AnnotationAssertion( "LCA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110329"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15258582"^^xsd:string) "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612712"^^xsd:string) AnnotationAssertion( "MESH:C567197"^^xsd:string) AnnotationAssertion( "LCA13"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA 53"^^xsd:string) AnnotationAssertion( "RP53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110330"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19268277"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536998"^^xsd:string) AnnotationAssertion( "MESH:C565814"^^xsd:string) AnnotationAssertion( "SPATA7-related disorder"^^xsd:string) AnnotationAssertion( "MIM:604232"^^xsd:string) AnnotationAssertion( "LCA3"^^xsd:string) AnnotationAssertion( "Leber Congenital Amaurosis Type 3"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber, 3"^^xsd:string) AnnotationAssertion( "RP94"^^xsd:string) AnnotationAssertion( "juvenile retinitis pigmentosa, SPATA7-related"^^xsd:string) AnnotationAssertion( "juvenile retinitis pigmentosa, autosomal recessive"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 94, variable age at onset"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 94, variable age at onset, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110331"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10615133"^^xsd:string) "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604393"^^xsd:string) AnnotationAssertion( "AIPL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "AIPL1-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C536999"^^xsd:string) AnnotationAssertion( "MESH:C565778"^^xsd:string) AnnotationAssertion( "LCA4"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis, type 4"^^xsd:string) AnnotationAssertion( "amaurosis congenita of Leber, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONE-ROD DYSTROPHY, AIPL1-RELATED"^^xsd:string) AnnotationAssertion( "Retinitis pigmentosa, juvenile"^^xsd:string) AnnotationAssertion( "juvenile retinitis pigmentosa, AIPL1-related"^^xsd:string) AnnotationAssertion( "DOID:0110332"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9537410"^^xsd:string) "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613829"^^xsd:string) AnnotationAssertion( "LCA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110333"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2873381"^^xsd:string) "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166200"^^xsd:string) AnnotationAssertion( "GARD:8694"^^xsd:string) AnnotationAssertion( "MESH:C536041"^^xsd:string) AnnotationAssertion( "ORDO:216796"^^xsd:string) AnnotationAssertion( "OI type I"^^xsd:string) AnnotationAssertion( "OI1"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta tarda"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type 1, mild"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type I"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with opalescent teeth"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, COL1A2-related"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type 1, with dentinogenesis imperfecta"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type 1A"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type I, with dentinogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110334"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7241530"^^xsd:string) "An osteogenesis imperfecta found in a single South African family. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166230"^^xsd:string) AnnotationAssertion( "MESH:C563487"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110335"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17277775"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610915"^^xsd:string) AnnotationAssertion( "GARD:10152"^^xsd:string) AnnotationAssertion( "MESH:C536049"^^xsd:string) AnnotationAssertion( "OI, TYPE VIII"^^xsd:string) AnnotationAssertion( "OI8"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110336"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17055431"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536043"^^xsd:string) AnnotationAssertion( "MIM:610682"^^xsd:string) AnnotationAssertion( "GARD:8701"^^xsd:string) AnnotationAssertion( "MESH:C565200"^^xsd:string) AnnotationAssertion( "OI, Type VII"^^xsd:string) AnnotationAssertion( "OI2B"^^xsd:string) AnnotationAssertion( "OI7"^^xsd:string) AnnotationAssertion( "Osteogenesis imperfecta, perinatal lethal, autosomal recessive"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type 2B"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type IIB"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type VII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110337"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26027498"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616507"^^xsd:string) AnnotationAssertion( "OI17"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XVII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110338"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2794057"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9099837"^^xsd:string) "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259420"^^xsd:string) AnnotationAssertion( "OMIA:002126"^^xsd:string) AnnotationAssertion( "RDO:0001458"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type III/IV"^^xsd:string) AnnotationAssertion( "GARD:8695"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.0"^^xsd:string) AnnotationAssertion( "MESH:C536044"^^xsd:string) AnnotationAssertion( "NCI:C99002"^^xsd:string) AnnotationAssertion( "OI, type III"^^xsd:string) AnnotationAssertion( "OI3"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type III"^^xsd:string) AnnotationAssertion( "SEVERE PROGRESSIVE DEFORMING RECESSIVE OSTEOGENESIS IMPERFECTA (TYPE III)"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type III, COL1A1-related"^^xsd:string) AnnotationAssertion( "progressively deforming osteogenesis imperfecta with normal sclera"^^xsd:string) AnnotationAssertion( "progressively deforming osteogenesis imperfecta with normal sclerae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110339"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 4) AnnotationAssertion(Annotation( "PMID:2745420"^^xsd:string) Annotation( "PMID:2897363"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2745420"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2897363"^^xsd:string) "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166220"^^xsd:string) AnnotationAssertion( "RDO:0001459"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type III/IV"^^xsd:string) AnnotationAssertion( "GARD:8696"^^xsd:string) AnnotationAssertion( "MESH:C536045"^^xsd:string) AnnotationAssertion( "NCI:C98576"^^xsd:string) AnnotationAssertion( "OI, type IV"^^xsd:string) AnnotationAssertion( "OI4"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type IV"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with normal sclera"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with normal sclerae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110340"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3722184"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6304100"^^xsd:string) "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166210"^^xsd:string) AnnotationAssertion( "GARD:10142"^^xsd:string) AnnotationAssertion( "MESH:C536042"^^xsd:string) AnnotationAssertion( "NCI:C99001"^^xsd:string) AnnotationAssertion( "ORDO:216804"^^xsd:string) AnnotationAssertion( "OI type 2"^^xsd:string) AnnotationAssertion( "OI type II"^^xsd:string) AnnotationAssertion( "OI2"^^xsd:string) AnnotationAssertion( "OIC"^^xsd:string) AnnotationAssertion( "Osteogenesis Imperfecta, Type 2A"^^xsd:string) AnnotationAssertion( "Vrolik disease"^^xsd:string) AnnotationAssertion( "Vrolik type of osteogenesis imperfecta"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta congenita"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta congenita, perinatal lethal form"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type 2, thin-bone"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type II"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type IIA"^^xsd:string) AnnotationAssertion( "perinatal lethal osteogenesis imperfecta congenita"^^xsd:string) AnnotationAssertion( "OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110341"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22052668"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000624"^^xsd:string) AnnotationAssertion( "MIM:614856"^^xsd:string) AnnotationAssertion( "BMP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OI, TYPE XIII"^^xsd:string) AnnotationAssertion( "OI13"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110342"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23054245"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615066"^^xsd:string) AnnotationAssertion( "OI, type XIV"^^xsd:string) AnnotationAssertion( "OI14"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XIV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110343"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22863190"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610967"^^xsd:string) AnnotationAssertion( "GARD:8699"^^xsd:string) AnnotationAssertion( "MESH:C567042"^^xsd:string) AnnotationAssertion( "OI, TYPE V"^^xsd:string) AnnotationAssertion( "OI5"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110344"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24079343"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616229"^^xsd:string) AnnotationAssertion( "OI16"^^xsd:string) AnnotationAssertion( "chromosome 11p11.2 deletion syndrome 91.3-KB"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XVI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110345"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 16"^^xsd:string) SubClassOf( ) # Class: (osteogenesis imperfecta type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20188343"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001483"^^xsd:string) AnnotationAssertion( "MIM:613848"^^xsd:string) AnnotationAssertion( "OI, type X"^^xsd:string) AnnotationAssertion( "OI10"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110346"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23499309"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000869"^^xsd:string) AnnotationAssertion( "WNT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615220"^^xsd:string) AnnotationAssertion( "OI, TYPE XV"^^xsd:string) AnnotationAssertion( "OI15"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110347"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20579626"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000623"^^xsd:string) AnnotationAssertion( "MIM:613849"^^xsd:string) AnnotationAssertion( "OI, TYPE XII"^^xsd:string) AnnotationAssertion( "OI12"^^xsd:string) AnnotationAssertion( "Osteogenesis Imperfecta, Type XII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110348"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19781681"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259440"^^xsd:string) AnnotationAssertion( "GARD:10619"^^xsd:string) AnnotationAssertion( "MESH:C564921"^^xsd:string) AnnotationAssertion( "OI, Type IX"^^xsd:string) AnnotationAssertion( "OI9"^^xsd:string) AnnotationAssertion( "Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen"^^xsd:string) AnnotationAssertion( "PPIB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type IX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110349"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21353196"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613982"^^xsd:string) AnnotationAssertion( "GARD:8700"^^xsd:string) AnnotationAssertion( "MESH:C536047"^^xsd:string) AnnotationAssertion( "OI, type VI"^^xsd:string) AnnotationAssertion( "OI6"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, type VI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110350"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20362275"^^xsd:string) "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000622"^^xsd:string) AnnotationAssertion( "FKBP10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:610968"^^xsd:string) AnnotationAssertion( "OI, TYPE XI"^^xsd:string) AnnotationAssertion( "OI11"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110351"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 59) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21295283"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "DHDDS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613861"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA TYPE 59"^^xsd:string) AnnotationAssertion( "RP59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDG1BB"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1BB"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type IBB"^^xsd:string) AnnotationAssertion( "DOID:0110352"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 59"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326941"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613794"^^xsd:string) AnnotationAssertion( "RDO:0014993"^^xsd:string) AnnotationAssertion( "RPE65-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566718"^^xsd:string) AnnotationAssertion( "RP20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110353"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9425888"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601718"^^xsd:string) AnnotationAssertion( "MESH:C566637"^^xsd:string) AnnotationAssertion( "RP19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110354"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 32) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16189710"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609913"^^xsd:string) AnnotationAssertion( "MESH:C563689"^^xsd:string) AnnotationAssertion( "RP32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110355"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 32"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11773002"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601414"^^xsd:string) AnnotationAssertion( "RDO:0012611"^^xsd:string) AnnotationAssertion( "MESH:C563320"^^xsd:string) AnnotationAssertion( "RP18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110356"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16199541"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610282"^^xsd:string) AnnotationAssertion( "RDO:0013915"^^xsd:string) AnnotationAssertion( "MESH:C565206"^^xsd:string) AnnotationAssertion( "RP35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110357"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 35"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10508521"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600105"^^xsd:string) AnnotationAssertion( "MESH:C563999"^^xsd:string) AnnotationAssertion( "RP WITH OR WITHOUT PPRPE"^^xsd:string) AnnotationAssertion( "RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM"^^xsd:string) AnnotationAssertion( "RP12"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110358"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 67) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24043777"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615565"^^xsd:string) AnnotationAssertion( "RP67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110359"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 67"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12427073"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "USH2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USH2A-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613809"^^xsd:string) AnnotationAssertion( "RP39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110360"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 39"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 75) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26720455"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617023"^^xsd:string) AnnotationAssertion( "RP75"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110361"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 75"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 58) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20227676"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.5"^^xsd:string) AnnotationAssertion( "MIM:613617"^^xsd:string) AnnotationAssertion( "RP58"^^xsd:string) AnnotationAssertion( "ZNF513-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110362"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 58"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 71) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25168386"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616394"^^xsd:string) AnnotationAssertion( "RP71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110363"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 71"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 54) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20398886"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001575"^^xsd:string) AnnotationAssertion( "PCARE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613428"^^xsd:string) AnnotationAssertion( "RP54"^^xsd:string) AnnotationAssertion( "Rod-cone dysplasia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CONE-ROD DYSTROPHY 23"^^xsd:string) AnnotationAssertion( "DOID:0110364"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 54"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20705278"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606068"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA TYPE 28"^^xsd:string) AnnotationAssertion( "RP28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110365"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19878916"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610359"^^xsd:string) AnnotationAssertion( "MESH:C563676"^^xsd:string) AnnotationAssertion( "RP33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110366"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 33"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11062461"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001932"^^xsd:string) AnnotationAssertion( "RDO:9000496"^^xsd:string) AnnotationAssertion( "MIM:613862"^^xsd:string) AnnotationAssertion( "ROD-CONE DYSTROPHY, CHILDHOOD-ONSET"^^xsd:string) AnnotationAssertion( "RP38"^^xsd:string) AnnotationAssertion( "progressive retinal atrophy, MERTK-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110367"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14681825"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608380"^^xsd:string) AnnotationAssertion( "RDO:0013275"^^xsd:string) AnnotationAssertion( "MESH:C564249"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA TYPE 26"^^xsd:string) AnnotationAssertion( "RP26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110368"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 47) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9565049"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613758"^^xsd:string) AnnotationAssertion( "RP47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110369"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 47"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 55) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19956407"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613575"^^xsd:string) AnnotationAssertion( "RP55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110370"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 55"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 56) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20673862"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613581"^^xsd:string) AnnotationAssertion( "MONDO:0013314"^^xsd:string) AnnotationAssertion( "RP56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110371"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 56"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2137202"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613731"^^xsd:string) AnnotationAssertion( "MESH:C566706"^^xsd:string) AnnotationAssertion( "RP4"^^xsd:string) AnnotationAssertion( "rhodopsin-related retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110372"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 61) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21310491"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614180"^^xsd:string) AnnotationAssertion( "RP61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110373"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 61"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 68) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24670872"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615725"^^xsd:string) AnnotationAssertion( "RP68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110374"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 68"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8394174"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "PDE6B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PDE6B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613801"^^xsd:string) AnnotationAssertion( "MONDO:0013429"^^xsd:string) AnnotationAssertion( "OMIA:000882"^^xsd:string) AnnotationAssertion( "OMIA:001669"^^xsd:string) AnnotationAssertion( "RP40"^^xsd:string) AnnotationAssertion( "Rod-cone dysplasia 1"^^xsd:string) AnnotationAssertion( "Rod-cone dysplasia 1a"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110375"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 40"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10587575"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612095"^^xsd:string) AnnotationAssertion( "MESH:C567422"^^xsd:string) AnnotationAssertion( "RP41"^^xsd:string) AnnotationAssertion( "Retinal Degeneration, Autosomal Recessive, Prominin-Related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110376"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 49) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7479749"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001977"^^xsd:string) AnnotationAssertion( "MIM:613756"^^xsd:string) AnnotationAssertion( "RP49"^^xsd:string) AnnotationAssertion( "progressive retinal atrophy, CNGA1-related"^^xsd:string) AnnotationAssertion( "progressive retinal atrophy, due to CNGA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110377"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 49"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11381043"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612165"^^xsd:string) AnnotationAssertion( "MESH:C567403"^^xsd:string) AnnotationAssertion( "RP29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110378"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493036"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613810"^^xsd:string) AnnotationAssertion( "MONDO:0013437"^^xsd:string) AnnotationAssertion( "OMIA:001314"^^xsd:string) AnnotationAssertion( "RP43"^^xsd:string) AnnotationAssertion( "Rod-cone dysplasia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110379"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 43"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 62) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21825139"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614181"^^xsd:string) AnnotationAssertion( "RP62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110380"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 62"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9462751"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600132"^^xsd:string) AnnotationAssertion( "RDO:0013099"^^xsd:string) AnnotationAssertion( "MESH:C563992"^^xsd:string) AnnotationAssertion( "RP14"^^xsd:string) AnnotationAssertion( "Retinitis Pigmentosa, Juvenile, TULP1-Related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110381"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15452722"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613827"^^xsd:string) AnnotationAssertion( "RP48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110382"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 48"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1749427"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564284"^^xsd:string) AnnotationAssertion( "MESH:C567263"^^xsd:string) AnnotationAssertion( "MESH:C567264"^^xsd:string) AnnotationAssertion( "MIM:608133"^^xsd:string) AnnotationAssertion( "RP7"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 7 with Bull's-eye maculopathy"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 7, digenic"^^xsd:string) AnnotationAssertion( "LCA18"^^xsd:string) AnnotationAssertion( "Leber congenital amaurosis 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110383"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18836446"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602772"^^xsd:string) AnnotationAssertion( "MESH:C566425"^^xsd:string) AnnotationAssertion( "EYS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RP25"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa type 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110384"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 63) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22083234"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614494"^^xsd:string) AnnotationAssertion( "RP63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110385"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 63"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19520207"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612943"^^xsd:string) AnnotationAssertion( "KLHL7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567854"^^xsd:string) AnnotationAssertion( "RP42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110386"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032732"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180104"^^xsd:string) AnnotationAssertion( "MESH:C566716"^^xsd:string) AnnotationAssertion( "RP9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110387"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11875050"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180105"^^xsd:string) AnnotationAssertion( "RDO:0014990"^^xsd:string) AnnotationAssertion( "IMPDH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566715"^^xsd:string) AnnotationAssertion( "RP10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110388"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 73) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25859010"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616544"^^xsd:string) AnnotationAssertion( "RP73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110389"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 73"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10391211"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180100"^^xsd:string) AnnotationAssertion( "MESH:C538365"^^xsd:string) AnnotationAssertion( "RP1"^^xsd:string) AnnotationAssertion( "RP1-RELATED RETINAL DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110390"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17924349"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609923"^^xsd:string) AnnotationAssertion( "MESH:C563685"^^xsd:string) AnnotationAssertion( "RDO:0012878"^^xsd:string) AnnotationAssertion( "RP31"^^xsd:string) AnnotationAssertion( "TOPORS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110391"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 31"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 70) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24419317"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001537"^^xsd:string) AnnotationAssertion( "MIM:615922"^^xsd:string) AnnotationAssertion( "RP70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110392"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 70"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 66) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19074801"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615233"^^xsd:string) AnnotationAssertion( "RP66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110393"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 66"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10581022"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613769"^^xsd:string) AnnotationAssertion( "RP44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110394"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 44"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 72) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25882705"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616469"^^xsd:string) AnnotationAssertion( "MONDO:0014653"^^xsd:string) AnnotationAssertion( "RP72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110395"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 72"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 50) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19853238"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613194"^^xsd:string) AnnotationAssertion( "MESH:C567712"^^xsd:string) AnnotationAssertion( "RP50"^^xsd:string) AnnotationAssertion( "concentric retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110396"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 50"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10192380"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613750"^^xsd:string) AnnotationAssertion( "MESH:C563526"^^xsd:string) AnnotationAssertion( "RP27"^^xsd:string) AnnotationAssertion( "autosomal recessive retinal degeneration, clumped pigment type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110397"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 51) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20451172"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. (DO)"^^xsd:string) AnnotationAssertion( "TTC8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613464"^^xsd:string) AnnotationAssertion( "MONDO:0013274"^^xsd:string) AnnotationAssertion( "RP51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110398"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 51"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564971"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NR2E3-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C567005"^^xsd:string) AnnotationAssertion( "MIM:611131"^^xsd:string) AnnotationAssertion( "MONDO:0012625"^^xsd:string) AnnotationAssertion( "RP37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110399"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 37"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9545639"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602594"^^xsd:string) AnnotationAssertion( "RDO:0016050"^^xsd:string) AnnotationAssertion( "RP22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110400"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 22"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 74) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25541840"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "BBS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BBS2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "BBS2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "BCL11B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616562"^^xsd:string) AnnotationAssertion( "RP74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110401"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 74"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 45) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11379879"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613767"^^xsd:string) AnnotationAssertion( "MONDO:0013413"^^xsd:string) AnnotationAssertion( "OMIA:000830"^^xsd:string) AnnotationAssertion( "RP45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110402"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11468273"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600059"^^xsd:string) AnnotationAssertion( "MESH:C564008"^^xsd:string) AnnotationAssertion( "RP13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110403"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15090652"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600852"^^xsd:string) AnnotationAssertion( "MESH:C563437"^^xsd:string) AnnotationAssertion( "RP17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110404"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16938425"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566431"^^xsd:string) AnnotationAssertion( "MIM:610599"^^xsd:string) AnnotationAssertion( "OMIA:001298"^^xsd:string) AnnotationAssertion( "RP36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110405"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 36"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14609921"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607921"^^xsd:string) AnnotationAssertion( "MESH:C564310"^^xsd:string) AnnotationAssertion( "RDO:0013319"^^xsd:string) AnnotationAssertion( "RP30"^^xsd:string) AnnotationAssertion( "MACULAR DEGENERATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110406"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 30"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 57) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20655036"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613582"^^xsd:string) AnnotationAssertion( "MONDO:0013315"^^xsd:string) AnnotationAssertion( "PDE6G retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "RP57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110407"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 57"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11545739"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600138"^^xsd:string) AnnotationAssertion( "RDO:0013098"^^xsd:string) AnnotationAssertion( "MESH:C563991"^^xsd:string) AnnotationAssertion( "RP11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110408"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 46) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18806796"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612572"^^xsd:string) AnnotationAssertion( "MESH:C567249"^^xsd:string) AnnotationAssertion( "RP46"^^xsd:string) AnnotationAssertion( "autosomal recessive retinitis pigmentosa, IDH3B-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110409"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 46"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa 69) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24680887"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615780"^^xsd:string) AnnotationAssertion( "RP69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110410"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 69"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 60) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21549338"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613983"^^xsd:string) AnnotationAssertion( "RP60"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110411"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 60"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22619378"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0016049"^^xsd:string) AnnotationAssertion( "MIM:300424"^^xsd:string) AnnotationAssertion( "RP23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110412"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2300556"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312612"^^xsd:string) AnnotationAssertion( "MESH:C564065"^^xsd:string) AnnotationAssertion( "RP6"^^xsd:string) AnnotationAssertion( "Retinitis Pigmentosa, X-Linked Recessive, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110413"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8673101"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300029"^^xsd:string) AnnotationAssertion( "OMIA:000831"^^xsd:string) AnnotationAssertion( "OMIA:001518"^^xsd:string) AnnotationAssertion( "GARD:10381"^^xsd:string) AnnotationAssertion( "MESH:C564520"^^xsd:string) AnnotationAssertion( "MONDO:0010227"^^xsd:string) AnnotationAssertion( "Progressive retinal atrophy, X-linked, type 1"^^xsd:string) AnnotationAssertion( "Progressive retinal atrophy, X-linked, type 2"^^xsd:string) AnnotationAssertion( "RP15"^^xsd:string) AnnotationAssertion( "RP3"^^xsd:string) AnnotationAssertion( "X-linked cone-rod degeneration"^^xsd:string) AnnotationAssertion( "choroidoretinal degeneration with retinal reflex in heterozygous women"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110414"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9697692"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312600"^^xsd:string) AnnotationAssertion( "MESH:C567523"^^xsd:string) AnnotationAssertion( "RP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110415"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10690843"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0016048"^^xsd:string) AnnotationAssertion( "MIM:300155"^^xsd:string) AnnotationAssertion( "RP24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110416"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16740911"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300605"^^xsd:string) AnnotationAssertion( "MESH:C564475"^^xsd:string) AnnotationAssertion( "RDO:0013423"^^xsd:string) AnnotationAssertion( "RP34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110417"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa Y-linked) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493160"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400004"^^xsd:string) AnnotationAssertion( "MESH:C564035"^^xsd:string) AnnotationAssertion( "RPY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110418"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa Y-linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa with or without situs inversus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23849777"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615434"^^xsd:string) AnnotationAssertion( "ARL2BP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RP82"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 82"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 82 with or without situs inversus"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110419"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa with or without situs inversus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dominant pericentral pigmentary retinopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3618160"^^xsd:string) "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180210"^^xsd:string) AnnotationAssertion( "MESH:C566713"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110420"^^xsd:string) AnnotationAssertion(rdfs:label "dominant pericentral pigmentary retinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (late-adult onset retinitis pigmentosa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1424244"^^xsd:string) "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268025"^^xsd:string) AnnotationAssertion( "RDO:0013665"^^xsd:string) AnnotationAssertion( "MESH:C564840"^^xsd:string) AnnotationAssertion( "senile retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110421"^^xsd:string) AnnotationAssertion(rdfs:label "late-adult onset retinitis pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive pericentral pigmentary retinopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3189470"^^xsd:string) "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268060"^^xsd:string) AnnotationAssertion( "MESH:C564838"^^xsd:string) AnnotationAssertion( "pericentral retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110422"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive pericentral pigmentary retinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14662268"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601493"^^xsd:string) AnnotationAssertion( "LDB3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563307"^^xsd:string) AnnotationAssertion( "NCI:C170436"^^xsd:string) AnnotationAssertion( "CMD1C"^^xsd:string) AnnotationAssertion( "CMDC1"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy 1C with or without left ventricular noncompaction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CMH24"^^xsd:string) AnnotationAssertion( "LVNC3"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 24"^^xsd:string) AnnotationAssertion( "left ventricular noncompaction 3"^^xsd:string) AnnotationAssertion( "DOID:0110423"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1CC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19881492"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613122"^^xsd:string) AnnotationAssertion( "NEXN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567733"^^xsd:string) AnnotationAssertion( "CMD1CC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110424"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1CC"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10580070"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:115200"^^xsd:string) AnnotationAssertion( "NCI:C165596"^^xsd:string) AnnotationAssertion( "ORDO:300751"^^xsd:string) AnnotationAssertion( "CDCD1"^^xsd:string) AnnotationAssertion( "CMD1A"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with conduction defect 1"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, LMNA"^^xsd:string) AnnotationAssertion( "familial dilated cardiomyopathy with conduction defect due to LMNA mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110425"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11106718"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601494"^^xsd:string) AnnotationAssertion( "RDO:0012603"^^xsd:string) AnnotationAssertion( "MESH:C563306"^^xsd:string) AnnotationAssertion( "NCI:C198599"^^xsd:string) AnnotationAssertion( "CMD1D"^^xsd:string) AnnotationAssertion( "LEFT VENTRICULAR NONCOMPACTION 6"^^xsd:string) AnnotationAssertion( "LVNC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110426"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1V) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17186461"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613697"^^xsd:string) AnnotationAssertion( "MESH:C566856"^^xsd:string) AnnotationAssertion( "CMD1V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110427"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1AA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14567970"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612158"^^xsd:string) AnnotationAssertion( "MESH:C567407"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION"^^xsd:string) AnnotationAssertion( "CMD1AA"^^xsd:string) AnnotationAssertion( "CMH23"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 23"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110428"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1AA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10486326"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604288"^^xsd:string) AnnotationAssertion( "MESH:C536277"^^xsd:string) AnnotationAssertion( "CMD1H"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with conduction defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110429"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1H"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11788824"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604145"^^xsd:string) AnnotationAssertion( "MESH:C565824"^^xsd:string) AnnotationAssertion( "NCI:C182078"^^xsd:string) AnnotationAssertion( "CMD1G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110430"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10430757"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604765"^^xsd:string) AnnotationAssertion( "MESH:C565752"^^xsd:string) AnnotationAssertion( "CMD1I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110431"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1NN) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24777450"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615916"^^xsd:string) AnnotationAssertion( "CMD1NN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110432"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1NN"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15466643"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601154"^^xsd:string) AnnotationAssertion( "RDO:0012654"^^xsd:string) AnnotationAssertion( "MESH:C563384"^^xsd:string) AnnotationAssertion( "CDCD2"^^xsd:string) AnnotationAssertion( "CMD1E"^^xsd:string) AnnotationAssertion( "Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with conduction defect 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110433"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1Z) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15542288"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611879"^^xsd:string) AnnotationAssertion( "MESH:C567506"^^xsd:string) AnnotationAssertion( "CMD1Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110434"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1Z"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1GG) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20551992"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613642"^^xsd:string) AnnotationAssertion( "CMD1GG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110435"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1GG"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1L) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10974018"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606685"^^xsd:string) AnnotationAssertion( "MESH:C564679"^^xsd:string) AnnotationAssertion( "CMD1L"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110436"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1L"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1K) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11085912"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605582"^^xsd:string) AnnotationAssertion( "MESH:C565320"^^xsd:string) AnnotationAssertion( "CMD1K"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110437"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1K"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1JJ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17646580"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615235"^^xsd:string) AnnotationAssertion( "CMD1JJ"^^xsd:string) AnnotationAssertion( "LAMA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110438"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1JJ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1P) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12610310"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609909"^^xsd:string) AnnotationAssertion( "MESH:C563690"^^xsd:string) AnnotationAssertion( "NCI:C173625"^^xsd:string) AnnotationAssertion( "CMD1P"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110439"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1P"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15735644"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605362"^^xsd:string) AnnotationAssertion( "EYA4-related disorder"^^xsd:string) AnnotationAssertion( "EYA4-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C565337"^^xsd:string) AnnotationAssertion( "ORDO:217622"^^xsd:string) AnnotationAssertion( "CMD1J"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with sensorineural hearing loss, autosomal dominant"^^xsd:string) AnnotationAssertion( "neurosensory deafness with dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "neurosensory hearing loss with dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "sensorineural deafness with dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "sensorineural hearing loss with dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110440"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1J"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21965549"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614672"^^xsd:string) AnnotationAssertion( "CMD2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110441"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1Q) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16228230"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609915"^^xsd:string) AnnotationAssertion( "MESH:C563688"^^xsd:string) AnnotationAssertion( "CMD1Q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110442"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1Q"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7573045"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600884"^^xsd:string) AnnotationAssertion( "MESH:C536231"^^xsd:string) AnnotationAssertion( "CMD1B"^^xsd:string) AnnotationAssertion( "CMPD1"^^xsd:string) AnnotationAssertion( "FDC1"^^xsd:string) AnnotationAssertion( "familial dilated cardiomyopathy 1"^^xsd:string) AnnotationAssertion( "familial hypokinetic dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110443"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1X) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17036286"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611615"^^xsd:string) AnnotationAssertion( "MESH:C566907"^^xsd:string) AnnotationAssertion( "CMD1X"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, with mild or no proximal muscle weakness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110444"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1X"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1KK) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18006477"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MYPN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615248"^^xsd:string) AnnotationAssertion( "CMD1KK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4"^^xsd:string) AnnotationAssertion( "CMH22"^^xsd:string) AnnotationAssertion( "RCM4"^^xsd:string) AnnotationAssertion( "DOID:0110445"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1KK"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1W) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11815424"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611407"^^xsd:string) AnnotationAssertion( "VCL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566954"^^xsd:string) AnnotationAssertion( "NCI:C187983"^^xsd:string) AnnotationAssertion( "CMD1W"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110446"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1W"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1DD) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19712804"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613172"^^xsd:string) AnnotationAssertion( "RDO:0015714"^^xsd:string) AnnotationAssertion( "MESH:C567725"^^xsd:string) AnnotationAssertion( "NCI:C174435"^^xsd:string) AnnotationAssertion( "CMD1DD"^^xsd:string) AnnotationAssertion( "RBM20-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110447"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1DD"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1HH) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21353195"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000821"^^xsd:string) AnnotationAssertion( "BAG3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613881"^^xsd:string) AnnotationAssertion( "NCI:C192082"^^xsd:string) AnnotationAssertion( "CMD1HH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110448"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1HH"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1M) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12507422"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14567970"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607482"^^xsd:string) AnnotationAssertion( "CSRP3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C564390"^^xsd:string) AnnotationAssertion( "CMD1M"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110449"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1M"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16483541"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615184"^^xsd:string) AnnotationAssertion( "CMD1II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110450"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1O) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15034580"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608569"^^xsd:string) AnnotationAssertion( "MESH:C563906"^^xsd:string) AnnotationAssertion( "CMD1O"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with ventricular tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110451"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1O"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1T) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16247757"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566052"^^xsd:string) AnnotationAssertion( "CMD1T"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110452"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1T"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1EE) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15998695"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613252"^^xsd:string) AnnotationAssertion( "MESH:C567683"^^xsd:string) AnnotationAssertion( "CMD1EE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110453"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1EE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1S) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11106718"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613426"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.0"^^xsd:string) AnnotationAssertion( "MESH:C563538"^^xsd:string) AnnotationAssertion( "CMD1S"^^xsd:string) AnnotationAssertion( "biventricular noncompaction cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LVNC5"^^xsd:string) AnnotationAssertion( "left ventricular noncompaction 5"^^xsd:string) AnnotationAssertion( "DOID:0110454"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1S"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1U) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17186461"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613694"^^xsd:string) AnnotationAssertion( "MESH:C566296"^^xsd:string) AnnotationAssertion( "CMD1U"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110455"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1U"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1R) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17611253"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613424"^^xsd:string) AnnotationAssertion( "CMD1R"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110456"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1R"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1Y) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11273725"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611878"^^xsd:string) AnnotationAssertion( "TPM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567507"^^xsd:string) AnnotationAssertion( "CMD1Y"^^xsd:string) AnnotationAssertion( "LEFT VENTRICULAR NONCOMPACTION 9"^^xsd:string) AnnotationAssertion( "LVNC9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110457"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1Y"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1BB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18678517"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612877"^^xsd:string) AnnotationAssertion( "DSG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567877"^^xsd:string) AnnotationAssertion( "CMD1BB"^^xsd:string) AnnotationAssertion( "familial isolated dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110458"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1BB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 1FF) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19590045"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613286"^^xsd:string) AnnotationAssertion( "MESH:C567654"^^xsd:string) AnnotationAssertion( "CMD1FF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110459"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 1FF"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15070570"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611880"^^xsd:string) AnnotationAssertion( "MESH:C567505"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CMD2A"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110460"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked dilated cardiomyopathy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29901616"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8361506"^^xsd:string) "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060561"^^xsd:string) AnnotationAssertion( "MIM:302045"^^xsd:string) AnnotationAssertion( "MESH:C580047"^^xsd:string) AnnotationAssertion( "CMD3B"^^xsd:string) AnnotationAssertion( "DMD-associated dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "DMD-related dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "XLCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110461"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dilated cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 101) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24619944"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615837"^^xsd:string) AnnotationAssertion( "RDO:9001425"^^xsd:string) AnnotationAssertion( "DFNB101"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110462"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 101"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 102) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24741995"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001426"^^xsd:string) AnnotationAssertion( "MIM:615974"^^xsd:string) AnnotationAssertion( "DFNB102"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 102"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110463"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 102"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 103) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24781754"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616042"^^xsd:string) AnnotationAssertion( "RDO:9001427"^^xsd:string) AnnotationAssertion( "DFNB103"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110464"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 103"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 104) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24958875"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "RIPOR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616515"^^xsd:string) AnnotationAssertion( "MONDO:0014675"^^xsd:string) AnnotationAssertion( "DFNB104"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110465"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 104"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal recessive nonsyndromic deafness 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11090341"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601386"^^xsd:string) AnnotationAssertion( "ATP2B2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C563327"^^xsd:string) AnnotationAssertion( "NCI:C201586"^^xsd:string) AnnotationAssertion( "DFNB12"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 12, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0110467"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 12"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9781028"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603098"^^xsd:string) AnnotationAssertion( "MESH:C566410"^^xsd:string) AnnotationAssertion( "DFNB13"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110468"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 13"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9887371"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603678"^^xsd:string) AnnotationAssertion( "MESH:C566344"^^xsd:string) AnnotationAssertion( "DFNB14"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110469"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 14"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21326233"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601869"^^xsd:string) AnnotationAssertion( "MESH:C566611"^^xsd:string) AnnotationAssertion( "DFMB15"^^xsd:string) AnnotationAssertion( "DFNB15"^^xsd:string) AnnotationAssertion( "DFNB72"^^xsd:string) AnnotationAssertion( "DFNB95"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 15"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 72"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 95"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110470"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 15"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11687802"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603720"^^xsd:string) AnnotationAssertion( "MESH:C566339"^^xsd:string) AnnotationAssertion( "DFNB16"^^xsd:string) AnnotationAssertion( "STRC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110471"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 16"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15293785"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603010"^^xsd:string) AnnotationAssertion( "MESH:C566418"^^xsd:string) AnnotationAssertion( "DFNB17"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110472"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 17"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 18A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12136232"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566580"^^xsd:string) AnnotationAssertion( "MIM:602092"^^xsd:string) AnnotationAssertion( "DFNB18A"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 18A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110473"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 18A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 18B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23122587"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614945"^^xsd:string) AnnotationAssertion( "DFNB18B"^^xsd:string) AnnotationAssertion( "OTOG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 18B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110474"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 18B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9139825"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:220290"^^xsd:string) AnnotationAssertion( "MESH:C567134"^^xsd:string) AnnotationAssertion( "NCI:C129022"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE DEAFNESS TYPE 1A"^^xsd:string) AnnotationAssertion( "DFNB1A"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 1A"^^xsd:string) AnnotationAssertion( "DEAFNESS, DIGENIC, GJB2/GJB3"^^xsd:string) AnnotationAssertion( "DEAFNESS, DIGENIC, GJB2/GJB6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110475"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11807148"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612645"^^xsd:string) AnnotationAssertion( "MESH:C567213"^^xsd:string) AnnotationAssertion( "DFNB1B"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110476"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 1B"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9171833"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600060"^^xsd:string) AnnotationAssertion( "MESH:C564007"^^xsd:string) AnnotationAssertion( "DFNB2"^^xsd:string) AnnotationAssertion( "NSRD2"^^xsd:string) AnnotationAssertion( "Neurosensory Nonsyndromic Recessive Deafness 2"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110477"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10196710"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604060"^^xsd:string) AnnotationAssertion( "MESH:C565828"^^xsd:string) AnnotationAssertion( "RDO:0014366"^^xsd:string) AnnotationAssertion( "DFNB20"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110478"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 20"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9949200"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603629"^^xsd:string) AnnotationAssertion( "TECTA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566353"^^xsd:string) AnnotationAssertion( "RDO:0014731"^^xsd:string) AnnotationAssertion( "DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE 21"^^xsd:string) AnnotationAssertion( "DFNB21"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110479"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 21"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11972037"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607039"^^xsd:string) AnnotationAssertion( "RDO:0013526"^^xsd:string) AnnotationAssertion( "MESH:C564633"^^xsd:string) AnnotationAssertion( "DFNB22"^^xsd:string) AnnotationAssertion( "OTOA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110480"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 22"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14570705"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609533"^^xsd:string) AnnotationAssertion( "MESH:C563705"^^xsd:string) AnnotationAssertion( "DFNB23"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110481"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 23"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17226784"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611022"^^xsd:string) AnnotationAssertion( "MESH:C567027"^^xsd:string) AnnotationAssertion( "DFNB24"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110482"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 24"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20137778"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613285"^^xsd:string) AnnotationAssertion( "RDO:0009805"^^xsd:string) AnnotationAssertion( "DFNB25"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110483"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 25"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11101839"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605428"^^xsd:string) AnnotationAssertion( "MESH:C565329"^^xsd:string) AnnotationAssertion( "RDO:0013999"^^xsd:string) AnnotationAssertion( "DFNB26"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110484"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 26"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11175289"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605818"^^xsd:string) AnnotationAssertion( "MESH:C565287"^^xsd:string) AnnotationAssertion( "RDO:0013967"^^xsd:string) AnnotationAssertion( "DFNB27"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110485"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 27"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16385458"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609823"^^xsd:string) AnnotationAssertion( "MESH:C565218"^^xsd:string) AnnotationAssertion( "NCI:C129023"^^xsd:string) AnnotationAssertion( "DFNB28"^^xsd:string) AnnotationAssertion( "TRIOBP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110486"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 28"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11163249"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614035"^^xsd:string) AnnotationAssertion( "DFNB29"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110487"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 29"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17851452"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563961"^^xsd:string) AnnotationAssertion( "MIM:600316"^^xsd:string) AnnotationAssertion( "MONDO:0010860"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 3"^^xsd:string) AnnotationAssertion( "DFNB3"^^xsd:string) AnnotationAssertion( "MYO15A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NRSD3"^^xsd:string) AnnotationAssertion( "NSRD3"^^xsd:string) AnnotationAssertion( "Neurosensory Nonsyndromic Recessive Deafness 3"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 3"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110488"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12032315"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607101"^^xsd:string) AnnotationAssertion( "MESH:C564624"^^xsd:string) AnnotationAssertion( "ORDO:90636"^^xsd:string) AnnotationAssertion( "RDO:0013519"^^xsd:string) AnnotationAssertion( "DFNB30"^^xsd:string) AnnotationAssertion( "MYO3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110489"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 30"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12833159"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607084"^^xsd:string) AnnotationAssertion( "MESH:C564629"^^xsd:string) AnnotationAssertion( "DFNB31"^^xsd:string) AnnotationAssertion( "Whirler, Mouse, Homolog Of"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110490"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 31"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27259055/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12634867"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110466"^^xsd:string) AnnotationAssertion( "MIM:608653"^^xsd:string) AnnotationAssertion( "MESH:C563884"^^xsd:string) AnnotationAssertion( "DFNB105"^^xsd:string) AnnotationAssertion( "DFNB32"^^xsd:string) AnnotationAssertion( "HIIMS"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 105"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 32"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 32, with or without immotile sperm"^^xsd:string) AnnotationAssertion( "autosomal recessive nonsyndromic deafness 105"^^xsd:string) AnnotationAssertion( "hearing impairment infertile male syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110491"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 32"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12080392"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607239"^^xsd:string) AnnotationAssertion( "MESH:C564602"^^xsd:string) AnnotationAssertion( "RDO:0013505"^^xsd:string) AnnotationAssertion( "DFNB33"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110492"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 33"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18179891"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608565"^^xsd:string) AnnotationAssertion( "MESH:C563908"^^xsd:string) AnnotationAssertion( "DFNB35"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110493"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 35"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15286153"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567219"^^xsd:string) AnnotationAssertion( "MIM:609006"^^xsd:string) AnnotationAssertion( "MESH:C563815"^^xsd:string) AnnotationAssertion( "DFNB36"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 36"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 36, with or without vestibular involvement"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 36, without vestibular involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT"^^xsd:string) AnnotationAssertion( "DOID:0110494"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 36"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12687499"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607821"^^xsd:string) AnnotationAssertion( "MYO6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564331"^^xsd:string) AnnotationAssertion( "DFNB37"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110495"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 37"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12890929"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608219"^^xsd:string) AnnotationAssertion( "MESH:C564273"^^xsd:string) AnnotationAssertion( "DFNB38"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110496"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 38"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19576567"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608265"^^xsd:string) AnnotationAssertion( "MESH:C564265"^^xsd:string) AnnotationAssertion( "NCI:C129874"^^xsd:string) AnnotationAssertion( "DFNB39"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110497"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 39"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9500541"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600791"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorder"^^xsd:string) AnnotationAssertion( "KCNJ10-related disorders"^^xsd:string) AnnotationAssertion( "SLC26A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SLC26A4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566366"^^xsd:string) AnnotationAssertion( "DFNB4"^^xsd:string) AnnotationAssertion( "ENLARGED VESTIBULAR AQUEDUCT SYNDROME"^^xsd:string) AnnotationAssertion( "NSRD4"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 4"^^xsd:string) AnnotationAssertion( "neurosensory nonsyndromic recessive deafness 4"^^xsd:string) AnnotationAssertion( "DVA"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 4 with enlarged vestibular aqueduct"^^xsd:string) AnnotationAssertion( "dilated vestibular aqueduct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110498"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14512974"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608264"^^xsd:string) AnnotationAssertion( "MESH:C564266"^^xsd:string) AnnotationAssertion( "DFNB40"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110499"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 40"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21255762"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609646"^^xsd:string) AnnotationAssertion( "MESH:C566460"^^xsd:string) AnnotationAssertion( "DFNB42"^^xsd:string) AnnotationAssertion( "ILDR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110500"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 42"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482543"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610154"^^xsd:string) AnnotationAssertion( "MESH:C565716"^^xsd:string) AnnotationAssertion( "DFNB44"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110501"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 44"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 45) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18325041"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612433"^^xsd:string) AnnotationAssertion( "DFNB45"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110502"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 45"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 46) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15637723"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609647"^^xsd:string) AnnotationAssertion( "MESH:C566459"^^xsd:string) AnnotationAssertion( "RDO:0014806"^^xsd:string) AnnotationAssertion( "DFNB46"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110503"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 46"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 47) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16261342"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609946"^^xsd:string) AnnotationAssertion( "MESH:C566498"^^xsd:string) AnnotationAssertion( "DFNB47"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110504"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 47"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23023331"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609439"^^xsd:string) AnnotationAssertion( "MESH:C563720"^^xsd:string) AnnotationAssertion( "DFNB48"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110505"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 48"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 49) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18084694"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610153"^^xsd:string) AnnotationAssertion( "MESH:C565717"^^xsd:string) AnnotationAssertion( "NCI:C129024"^^xsd:string) AnnotationAssertion( "DFNB49"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 49"^^xsd:string) AnnotationAssertion( "neurosensory deafness, autosomal recessive 49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110506"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 49"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8944017"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600792"^^xsd:string) AnnotationAssertion( "MESH:C563444"^^xsd:string) AnnotationAssertion( "DFNB5"^^xsd:string) AnnotationAssertion( "NSRD5"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 5"^^xsd:string) AnnotationAssertion( "neurosensory nonsyndromic recessive deafness 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110507"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 5"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 51) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16158433"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609941"^^xsd:string) AnnotationAssertion( "MESH:C538202"^^xsd:string) AnnotationAssertion( "DFNB51"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110508"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 51"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 53) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16033917"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609706"^^xsd:string) AnnotationAssertion( "MESH:C566453"^^xsd:string) AnnotationAssertion( "DFNB53"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110509"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 53"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 55) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16098016"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609952"^^xsd:string) AnnotationAssertion( "GARD:9919"^^xsd:string) AnnotationAssertion( "MESH:C538203"^^xsd:string) AnnotationAssertion( "DFNB55"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110510"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 55"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 59) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17301963"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610220"^^xsd:string) AnnotationAssertion( "MESH:C565698"^^xsd:string) AnnotationAssertion( "DFNB59"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110511"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 59"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12145746"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600971"^^xsd:string) AnnotationAssertion( "MESH:C563418"^^xsd:string) AnnotationAssertion( "DFNB6"^^xsd:string) AnnotationAssertion( "NSRD6"^^xsd:string) AnnotationAssertion( "TMIE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 6"^^xsd:string) AnnotationAssertion( "neurosensory nonsyndromic recessive deafness 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110512"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 61) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12719379"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613865"^^xsd:string) AnnotationAssertion( "DFNB61"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110513"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 61"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 62) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16650082"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610143"^^xsd:string) AnnotationAssertion( "MESH:C565719"^^xsd:string) AnnotationAssertion( "DFNB62"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110514"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 62"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 63) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18953341"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611451"^^xsd:string) AnnotationAssertion( "MESH:C566951"^^xsd:string) AnnotationAssertion( "DFNB63"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110515"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 63"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 65) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16596430"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610248"^^xsd:string) AnnotationAssertion( "MESH:C565211"^^xsd:string) AnnotationAssertion( "DFNB65"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110516"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 65"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 66) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25601850"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610212"^^xsd:string) AnnotationAssertion( "MESH:C565701"^^xsd:string) AnnotationAssertion( "DFNB66"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110517"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 66"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 67) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16459341"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610265"^^xsd:string) AnnotationAssertion( "MESH:C565207"^^xsd:string) AnnotationAssertion( "DFNB67"^^xsd:string) AnnotationAssertion( "LHFPL5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110518"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 67"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 68) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26805784"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610419"^^xsd:string) AnnotationAssertion( "MESH:C563669"^^xsd:string) AnnotationAssertion( "DFNB68"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110519"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 68"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11850618"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600974"^^xsd:string) AnnotationAssertion( "MESH:C563417"^^xsd:string) AnnotationAssertion( "DFNB11"^^xsd:string) AnnotationAssertion( "DFNB7"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 11"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110520"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 7"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 70) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23084290"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614934"^^xsd:string) AnnotationAssertion( "DFNB70"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 70"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 70, with or without adult-onset neurodegeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110521"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 70"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 71) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19229252"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612789"^^xsd:string) AnnotationAssertion( "MESH:C567562"^^xsd:string) AnnotationAssertion( "DFNB71"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110522"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 71"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 74) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21185009"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613718"^^xsd:string) AnnotationAssertion( "DFNB74"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110523"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 74"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 76) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23348741"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615540"^^xsd:string) AnnotationAssertion( "DFNB76"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110524"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 76"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 77) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19732867"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613079"^^xsd:string) AnnotationAssertion( "MESH:C567543"^^xsd:string) AnnotationAssertion( "RDO:0015594"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE DEAFNESS TYPE 77"^^xsd:string) AnnotationAssertion( "DFNB77"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110525"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 77"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 79) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20170899"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613307"^^xsd:string) AnnotationAssertion( "MESH:C567651"^^xsd:string) AnnotationAssertion( "RDO:0015667"^^xsd:string) AnnotationAssertion( "DFNB79"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110526"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 79"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11137999"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008796"^^xsd:string) AnnotationAssertion( "RDO:0014006"^^xsd:string) AnnotationAssertion( "MESH:C563395"^^xsd:string) AnnotationAssertion( "MESH:C565341"^^xsd:string) AnnotationAssertion( "MIM:601072"^^xsd:string) AnnotationAssertion( "RDO:0012661"^^xsd:string) AnnotationAssertion( "DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8"^^xsd:string) AnnotationAssertion( "DFNB10"^^xsd:string) AnnotationAssertion( "DFNB8"^^xsd:string) AnnotationAssertion( "Deafness, Autosomal Recessive 10"^^xsd:string) AnnotationAssertion( "Deafness, Autosomal Recessive 8/10"^^xsd:string) AnnotationAssertion( "NRSD8"^^xsd:string) AnnotationAssertion( "NSRD8"^^xsd:string) AnnotationAssertion( "Neurosensory Nonsyndromic Recessive Deafness 8"^^xsd:string) AnnotationAssertion( "TMPRSS3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110527"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 8"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 83) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss"^^xsd:string) Annotation( "https://www.omim.org/entry/613685"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613685"^^xsd:string) AnnotationAssertion( "DFNB83"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110528"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 83"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 84A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20346435"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613391"^^xsd:string) AnnotationAssertion( "RDO:0009830"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 84"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION"^^xsd:string) AnnotationAssertion( "DFNB84"^^xsd:string) AnnotationAssertion( "DFNB84A"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 84A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110529"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 84A"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 84B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23122586"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614944"^^xsd:string) AnnotationAssertion( "RDO:9000269"^^xsd:string) AnnotationAssertion( "DFNB84B"^^xsd:string) AnnotationAssertion( "OTOGL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 84B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110530"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 84B"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 85) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19888295"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613392"^^xsd:string) AnnotationAssertion( "RDO:0009831"^^xsd:string) AnnotationAssertion( "DFNB85"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 85"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110531"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 85"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 86) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24387994"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614617"^^xsd:string) AnnotationAssertion( "DFNB86"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 86"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110532"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 86"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 88) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24039609"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615429"^^xsd:string) AnnotationAssertion( "DFNB88"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110533"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 88"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 89) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23768514"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0010093"^^xsd:string) AnnotationAssertion( "MIM:613916"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 89"^^xsd:string) AnnotationAssertion( "DFNB89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110534"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 89"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10192385"^^xsd:string) "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601071"^^xsd:string) AnnotationAssertion( "OTOF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563396"^^xsd:string) AnnotationAssertion( "NCI:C116364"^^xsd:string) AnnotationAssertion( "AUDITORY NEUROPATHY SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "DFNB9"^^xsd:string) AnnotationAssertion( "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9"^^xsd:string) AnnotationAssertion( "NRSD9"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE"^^xsd:string) AnnotationAssertion( "AUNB1"^^xsd:string) AnnotationAssertion( "NSRAN"^^xsd:string) AnnotationAssertion( "autosomal recessive auditory neuropathy 1"^^xsd:string) AnnotationAssertion( "DOID:0110535"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 91) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20451170"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613453"^^xsd:string) AnnotationAssertion( "MONDO:0013269"^^xsd:string) AnnotationAssertion( "DFNB91"^^xsd:string) AnnotationAssertion( "SERPINB6 autosomal recessive nonsyndromic deafness"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 91"^^xsd:string) AnnotationAssertion( "autosomal recessive nonsyndromic hearing loss 91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110536"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 91"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 93) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22981119"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614899"^^xsd:string) AnnotationAssertion( "MONDO:0013963"^^xsd:string) AnnotationAssertion( "DFNB93"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110537"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 93"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 96) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21937999"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614414"^^xsd:string) AnnotationAssertion( "DFNB96"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 96"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110538"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 96"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 97) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25941349"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616705"^^xsd:string) AnnotationAssertion( "DFNB97"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 97"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110539"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 97"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 98) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22678063"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614861"^^xsd:string) AnnotationAssertion( "DFNB98"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 98"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110540"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 98"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9360932"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:124900"^^xsd:string) AnnotationAssertion( "MESH:C565121"^^xsd:string) AnnotationAssertion( "DFNA1"^^xsd:string) AnnotationAssertion( "Konigsmark syndrome"^^xsd:string) AnnotationAssertion( "LFHL1"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 1"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 1, with or without thrombocytopenia"^^xsd:string) AnnotationAssertion( "hereditary low frequency hearing loss"^^xsd:string) AnnotationAssertion( "hereditary low frequency hearing loss 1"^^xsd:string) AnnotationAssertion( "progressive low tone deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110541"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 1"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11159937"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601316"^^xsd:string) AnnotationAssertion( "EYA4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "EYA4-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C563354"^^xsd:string) AnnotationAssertion( "RDO:0012636"^^xsd:string) AnnotationAssertion( "DFNA10"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110542"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 10"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9354784"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601317"^^xsd:string) AnnotationAssertion( "MESH:C563353"^^xsd:string) AnnotationAssertion( "RDO:0012635"^^xsd:string) AnnotationAssertion( "DFNA11"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110543"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 11"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590290"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601543"^^xsd:string) AnnotationAssertion( "TECTA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563295"^^xsd:string) AnnotationAssertion( "DFNA12"^^xsd:string) AnnotationAssertion( "DFNA8"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 12"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 8"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 8/12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110544"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 12"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10581026"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601868"^^xsd:string) AnnotationAssertion( "MESH:C566612"^^xsd:string) AnnotationAssertion( "RDO:0014923"^^xsd:string) AnnotationAssertion( "DFNA13"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110545"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 13"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9506947"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602459"^^xsd:string) AnnotationAssertion( "MESH:C566545"^^xsd:string) AnnotationAssertion( "DFNA15"^^xsd:string) AnnotationAssertion( "POU4F3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110546"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 15"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10364526"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603964"^^xsd:string) AnnotationAssertion( "MESH:C565832"^^xsd:string) AnnotationAssertion( "DFNA16"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110547"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 16"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11023810"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603622"^^xsd:string) AnnotationAssertion( "MYH9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C538050"^^xsd:string) AnnotationAssertion( "DFNA17"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 17"^^xsd:string) AnnotationAssertion( "deafness, autosomal dominant nonsyndromic sensorineural 17"^^xsd:string) AnnotationAssertion( "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration"^^xsd:string) AnnotationAssertion( "COCHLEOSACCULAR DEGENERATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110548"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11313754"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606012"^^xsd:string) AnnotationAssertion( "MESH:C565267"^^xsd:string) AnnotationAssertion( "DFNA18"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110549"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 18"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13680526"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604717"^^xsd:string) AnnotationAssertion( "ACTG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACTG1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C565754"^^xsd:string) AnnotationAssertion( "DFNA20"^^xsd:string) AnnotationAssertion( "DFNA26"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 20/26"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110550"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 20"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10764236"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. (DO)"^^xsd:string) AnnotationAssertion( "RIPOR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564634"^^xsd:string) AnnotationAssertion( "MIM:607017"^^xsd:string) AnnotationAssertion( "MONDO:0011761"^^xsd:string) AnnotationAssertion( "DFNA21"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110551"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 21"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11468689"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606346"^^xsd:string) AnnotationAssertion( "MYO6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C538197"^^xsd:string) AnnotationAssertion( "DFNA 22"^^xsd:string) AnnotationAssertion( "DFNA22"^^xsd:string) AnnotationAssertion( "DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY,"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 22"^^xsd:string) AnnotationAssertion( "deafness, autosomal dominant nonsyndromic sensorineural 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110552"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15141091"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565357"^^xsd:string) AnnotationAssertion( "MIM:605192"^^xsd:string) AnnotationAssertion( "MESH:C538198"^^xsd:string) AnnotationAssertion( "DFNA23"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 23"^^xsd:string) AnnotationAssertion( "deafness, autosomal dominant nonsyndromic sensorineural 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110553"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 23"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10739769"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606282"^^xsd:string) AnnotationAssertion( "RDO:0004142"^^xsd:string) AnnotationAssertion( "RDO:0013939"^^xsd:string) AnnotationAssertion( "GARD:9166"^^xsd:string) AnnotationAssertion( "MESH:C538199"^^xsd:string) AnnotationAssertion( "MESH:C565239"^^xsd:string) AnnotationAssertion( "DFNA24"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 24"^^xsd:string) AnnotationAssertion( "autosomal dominant nonsyndromic sensorineural deafness 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110554"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 24"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18674745"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605583"^^xsd:string) AnnotationAssertion( "MESH:C565319"^^xsd:string) AnnotationAssertion( "DFNA25"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110555"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 25"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18279434"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612431"^^xsd:string) AnnotationAssertion( "DFNA27"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110556"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 27"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12393799"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608641"^^xsd:string) AnnotationAssertion( "MESH:C563890"^^xsd:string) AnnotationAssertion( "DFNA28"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110557"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 28"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10025409"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600101"^^xsd:string) AnnotationAssertion( "MESH:C567441"^^xsd:string) AnnotationAssertion( "DFNA 2 Nonsyndromic Hearing Loss"^^xsd:string) AnnotationAssertion( "DFNA2A"^^xsd:string) AnnotationAssertion( "KCNQ4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110558"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 2A"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9843210"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612644"^^xsd:string) AnnotationAssertion( "MESH:C567214"^^xsd:string) AnnotationAssertion( "DFNA2B"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110559"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 2B"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11571554"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606451"^^xsd:string) AnnotationAssertion( "MESH:C564706"^^xsd:string) AnnotationAssertion( "DFNA30"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110560"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 30"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11559344"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608645"^^xsd:string) AnnotationAssertion( "MESH:C563888"^^xsd:string) AnnotationAssertion( "DFNA31"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110561"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 31"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19183916"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614211"^^xsd:string) AnnotationAssertion( "RDO:0010103"^^xsd:string) AnnotationAssertion( "DFNA33"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110562"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 33"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11850618"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606705"^^xsd:string) AnnotationAssertion( "TMC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564675"^^xsd:string) AnnotationAssertion( "NCI:C174444"^^xsd:string) AnnotationAssertion( "RDO:0013550"^^xsd:string) AnnotationAssertion( "DFNA36"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110563"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 36"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9139825"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601544"^^xsd:string) AnnotationAssertion( "MESH:C567277"^^xsd:string) AnnotationAssertion( "DFNA3A"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110564"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 3A"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 3B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10471490"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612643"^^xsd:string) AnnotationAssertion( "MESH:C567215"^^xsd:string) AnnotationAssertion( "DFNA3B"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110565"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 3B"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12471561"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616357"^^xsd:string) AnnotationAssertion( "RDO:9001421"^^xsd:string) AnnotationAssertion( "DFNA40"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110566"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 40"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24211385"^^xsd:string) Annotation( "https://www.omim.org/entry/608224"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608224"^^xsd:string) AnnotationAssertion( "MESH:C564272"^^xsd:string) AnnotationAssertion( "NCI:C175700"^^xsd:string) AnnotationAssertion( "RDO:0013294"^^xsd:string) AnnotationAssertion( "DFNA41"^^xsd:string) AnnotationAssertion( "P2RX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110567"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 41"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12676899"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608394"^^xsd:string) AnnotationAssertion( "MESH:C564246"^^xsd:string) AnnotationAssertion( "RDO:0013272"^^xsd:string) AnnotationAssertion( "DFNA43"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110568"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 43"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17503326"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607453"^^xsd:string) AnnotationAssertion( "MESH:C564399"^^xsd:string) AnnotationAssertion( "DFNA44"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110569"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 44"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 47) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12634859"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608652"^^xsd:string) AnnotationAssertion( "MESH:C563885"^^xsd:string) AnnotationAssertion( "RDO:0013025"^^xsd:string) AnnotationAssertion( "DFNA47"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110570"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 47"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12736868"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607841"^^xsd:string) AnnotationAssertion( "MESH:C564322"^^xsd:string) AnnotationAssertion( "DFNA48"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110571"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 48"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 49) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14627674"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608372"^^xsd:string) AnnotationAssertion( "RDO:0013276"^^xsd:string) AnnotationAssertion( "MESH:C564250"^^xsd:string) AnnotationAssertion( "DFNA49"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110572"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 49"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15015131"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MYH14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:600652"^^xsd:string) AnnotationAssertion( "DFNA4A"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 4A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110573"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 4A"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 4B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21368133"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614614"^^xsd:string) AnnotationAssertion( "DFNA4B"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 4B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110574"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 4B"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 5) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29849037"^^xsd:string) Annotation( "https://www.omim.org/entry/600994"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600994"^^xsd:string) AnnotationAssertion( "MESH:C563410"^^xsd:string) AnnotationAssertion( "DFNA5"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110575"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 5"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 50) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19363479"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613074"^^xsd:string) AnnotationAssertion( "RDO:0009751"^^xsd:string) AnnotationAssertion( "DFNA50"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110576"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 50"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 51) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20602916"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613558"^^xsd:string) AnnotationAssertion( "DFNA51"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 51"^^xsd:string) AnnotationAssertion( "chromosome 9q21.11 duplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110577"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 51"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 52) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18312703"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607683"^^xsd:string) AnnotationAssertion( "MESH:C564348"^^xsd:string) AnnotationAssertion( "RDO:0013346"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL DOMINANT 42"^^xsd:string) AnnotationAssertion( "DFNA42"^^xsd:string) AnnotationAssertion( "DFNA52"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110578"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 52"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 53) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15958501"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609965"^^xsd:string) AnnotationAssertion( "GARD:9934"^^xsd:string) AnnotationAssertion( "MESH:C566495"^^xsd:string) AnnotationAssertion( "RDO:0014833"^^xsd:string) AnnotationAssertion( "DFNA53"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110579"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 53"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 54) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15490091"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002382"^^xsd:string) AnnotationAssertion( "MIM:615649"^^xsd:string) AnnotationAssertion( "DFNA54"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110580"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 54"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 56) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23936043"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615629"^^xsd:string) AnnotationAssertion( "RDO:9001018"^^xsd:string) AnnotationAssertion( "DFNA56"^^xsd:string) AnnotationAssertion( "TNC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110581"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 56"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 58) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19159392"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615654"^^xsd:string) AnnotationAssertion( "NCI:C201585"^^xsd:string) AnnotationAssertion( "RDO:9002346"^^xsd:string) AnnotationAssertion( "DFNA58"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110582"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 58"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 59) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19030898"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612642"^^xsd:string) AnnotationAssertion( "MESH:C567216"^^xsd:string) AnnotationAssertion( "DFNA59"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110583"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 59"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11709537"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11709538"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600965"^^xsd:string) AnnotationAssertion( "MESH:C563421"^^xsd:string) AnnotationAssertion( "DFNA14"^^xsd:string) AnnotationAssertion( "DFNA38"^^xsd:string) AnnotationAssertion( "DFNA6"^^xsd:string) AnnotationAssertion( "Deafness, Autosomal Dominant 14"^^xsd:string) AnnotationAssertion( "Deafness, Autosomal Dominant 38"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110584"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 6"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 64) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21722859"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000264"^^xsd:string) AnnotationAssertion( "MIM:614152"^^xsd:string) AnnotationAssertion( "DFNA64"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110585"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 64"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 65) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24729539"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24729547"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616044"^^xsd:string) AnnotationAssertion( "RDO:9002446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DFNA65"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 65"^^xsd:string) AnnotationAssertion( "DOID:0110586"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 65"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 66) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26197441"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616969"^^xsd:string) AnnotationAssertion( "MONDO:0014854"^^xsd:string) AnnotationAssertion( "DFNA66"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 66"^^xsd:string) AnnotationAssertion( "autosomal dominant nonsyndromic hearing loss 66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110587"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 66"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 67) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25077649"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616340"^^xsd:string) AnnotationAssertion( "RDO:9001423"^^xsd:string) AnnotationAssertion( "DFNA67"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110588"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 67"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 68) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25816005"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616707"^^xsd:string) AnnotationAssertion( "RDO:9000776"^^xsd:string) AnnotationAssertion( "DFNA68"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110589"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 68"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 69) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26522471"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H90.3"^^xsd:string) AnnotationAssertion( "MIM:616697"^^xsd:string) AnnotationAssertion( "RDO:9000404"^^xsd:string) AnnotationAssertion( "DCUA"^^xsd:string) AnnotationAssertion( "DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC"^^xsd:string) AnnotationAssertion( "DFNA69"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 69, unilateral or asymmetric"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110590"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 69"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8842739"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601412"^^xsd:string) AnnotationAssertion( "MESH:C563321"^^xsd:string) AnnotationAssertion( "DFNA7"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110591"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 7"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 70) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26196677"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616968"^^xsd:string) AnnotationAssertion( "RDO:9001424"^^xsd:string) AnnotationAssertion( "DFNA70"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110592"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 70"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9806553"^^xsd:string) "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601369"^^xsd:string) AnnotationAssertion( "MESH:C563335"^^xsd:string) AnnotationAssertion( "DFNA9"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110593"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 9"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10577904"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:244400"^^xsd:string) AnnotationAssertion( "NCI:C128117"^^xsd:string) AnnotationAssertion( "CILD1"^^xsd:string) AnnotationAssertion( "DNAI1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 1 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110594"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 1"^^xsd:string) SubClassOf( ) # Class: (Stromme syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25564561"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243605"^^xsd:string) AnnotationAssertion( "EFO:0009160"^^xsd:string) AnnotationAssertion( "MESH:C565460"^^xsd:string) AnnotationAssertion( "CILD31"^^xsd:string) AnnotationAssertion( "STROMS"^^xsd:string) AnnotationAssertion( "apple peel syndrome with microcephaly and ocular anomalies"^^xsd:string) AnnotationAssertion( "jejunal atresia with microcephaly and ocular anomalies"^^xsd:string) AnnotationAssertion( "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110595"^^xsd:string) AnnotationAssertion(rdfs:label "Stromme syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23354437"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (DO)"^^xsd:string) AnnotationAssertion( "DRC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615294"^^xsd:string) AnnotationAssertion( "CILD21"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 21 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110596"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 21"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23891469"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23891471"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615444"^^xsd:string) AnnotationAssertion( "CILD22"^^xsd:string) AnnotationAssertion( "ZMYND10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 22, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110597"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 22"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21131972"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001540"^^xsd:string) AnnotationAssertion( "MIM:613807"^^xsd:string) AnnotationAssertion( "CCDC39-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CILD14"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 14, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110598"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 14"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11788826"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608644"^^xsd:string) AnnotationAssertion( "ICD10CM:Q34.8"^^xsd:string) AnnotationAssertion( "MESH:C535278"^^xsd:string) AnnotationAssertion( "NCI:C172392"^^xsd:string) AnnotationAssertion( "CILD3"^^xsd:string) AnnotationAssertion( "DNAH5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 3, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110599"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 3"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24747639"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615872"^^xsd:string) AnnotationAssertion( "NCI:C172393"^^xsd:string) AnnotationAssertion( "CCNO-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CILD29"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 29, without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110600"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 29"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19200523"^^xsd:string) "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612650"^^xsd:string) AnnotationAssertion( "MESH:C567211"^^xsd:string) AnnotationAssertion( "CILD12"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 12, without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110601"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 12"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19200523"^^xsd:string) "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612649"^^xsd:string) AnnotationAssertion( "MESH:C567212"^^xsd:string) AnnotationAssertion( "CILD11"^^xsd:string) AnnotationAssertion( "RSPH4A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 11, without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110602"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 11"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 32) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26073779"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616481"^^xsd:string) AnnotationAssertion( "CILD32"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110603"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 32"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23040496"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614874"^^xsd:string) AnnotationAssertion( "CILD18"^^xsd:string) AnnotationAssertion( "DNAAF5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 18 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110604"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 18"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18022865"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611884"^^xsd:string) AnnotationAssertion( "MESH:C567504"^^xsd:string) AnnotationAssertion( "CILD7"^^xsd:string) AnnotationAssertion( "DNAH11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 7 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110605"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 7"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17360648"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610852"^^xsd:string) AnnotationAssertion( "MESH:C567057"^^xsd:string) AnnotationAssertion( "CILD6"^^xsd:string) AnnotationAssertion( "NME8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110606"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 6"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24055112"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615505"^^xsd:string) AnnotationAssertion( "CILD28"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 28 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110607"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 28"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23122589"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614935"^^xsd:string) AnnotationAssertion( "CILD19"^^xsd:string) AnnotationAssertion( "DNAAF11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 19 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110608"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 19"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23849778"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615451"^^xsd:string) AnnotationAssertion( "CILD23"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110609"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 23"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27486783"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617091"^^xsd:string) AnnotationAssertion( "CILD34"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110610"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 34"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24094744"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615504"^^xsd:string) AnnotationAssertion( "CILD27"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 27 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110611"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 27"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19052621"^^xsd:string) "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612518"^^xsd:string) AnnotationAssertion( "MESH:C567287"^^xsd:string) AnnotationAssertion( "CILD10"^^xsd:string) AnnotationAssertion( "DNAAF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 10, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110612"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 10"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21496787"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614017"^^xsd:string) AnnotationAssertion( "CILD16"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 16 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110613"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 16"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14985390"^^xsd:string) "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608646"^^xsd:string) AnnotationAssertion( "MESH:C535279"^^xsd:string) AnnotationAssertion( "CILD4"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 4, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110614"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 4"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23872636"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "DNAAF4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615482"^^xsd:string) AnnotationAssertion( "CILD25"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 25, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110615"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 25"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18270537"^^xsd:string) "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612274"^^xsd:string) AnnotationAssertion( "MESH:C567373"^^xsd:string) AnnotationAssertion( "CILD8"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 8, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110616"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 8"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23022101"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608647"^^xsd:string) AnnotationAssertion( "MESH:C563886"^^xsd:string) AnnotationAssertion( "CILD5"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 5 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110617"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 5"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19944400"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613193"^^xsd:string) AnnotationAssertion( "MESH:C567713"^^xsd:string) AnnotationAssertion( "CILD13"^^xsd:string) AnnotationAssertion( "DNAAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 13, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110618"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 13"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26387594"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616726"^^xsd:string) AnnotationAssertion( "CILD33"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110619"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 33"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27486780"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617092"^^xsd:string) AnnotationAssertion( "CILD35"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 35 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110620"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 35"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22581229"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614679"^^xsd:string) AnnotationAssertion( "CILD17"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 17, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110621"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 17"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18950741"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612444"^^xsd:string) AnnotationAssertion( "MESH:C567310"^^xsd:string) AnnotationAssertion( "CILD9"^^xsd:string) AnnotationAssertion( "DNAI2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 9, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110622"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 9"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21131974"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613808"^^xsd:string) AnnotationAssertion( "NCI:C155999"^^xsd:string) AnnotationAssertion( "CCDC40-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CILD15"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 15, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110623"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 15"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25192045"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616037"^^xsd:string) AnnotationAssertion( "CILD30"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 30 without situs inversus"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 30, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110624"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 30"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23261303"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615067"^^xsd:string) AnnotationAssertion( "CILD20"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110625"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 20"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22387996"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606763"^^xsd:string) AnnotationAssertion( "MESH:C535277"^^xsd:string) AnnotationAssertion( "CILD2"^^xsd:string) AnnotationAssertion( "DNAAF3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 2, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110626"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 2"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24094744"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26998415"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615500"^^xsd:string) AnnotationAssertion( "CILD26"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 26 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110627"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 26"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23993197"^^xsd:string) "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615481"^^xsd:string) AnnotationAssertion( "CILD24"^^xsd:string) AnnotationAssertion( "CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110628"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 24"^^xsd:string) SubClassOf( ) # Class: (Wolfram syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21538838"^^xsd:string) "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E13.8"^^xsd:string) AnnotationAssertion( "MIM:222300"^^xsd:string) AnnotationAssertion( "WFS1"^^xsd:string) AnnotationAssertion( "diabetes mellitus AND insipidus with optic atrophy AND deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110629"^^xsd:string) AnnotationAssertion(rdfs:label "Wolfram syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wolfram syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25056293"^^xsd:string) "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604928"^^xsd:string) AnnotationAssertion( "MESH:C565733"^^xsd:string) AnnotationAssertion( "WFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110630"^^xsd:string) AnnotationAssertion(rdfs:label "Wolfram syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (megaconial type congenital muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16371353"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21665002"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602541"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, CHKB-related"^^xsd:string) AnnotationAssertion( "MESH:C566527"^^xsd:string) AnnotationAssertion( "ORDO:280671"^^xsd:string) AnnotationAssertion( "MDCMC"^^xsd:string) AnnotationAssertion( "congenital megaconial myopathy"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy with mitochondrial structural abnormalities"^^xsd:string) AnnotationAssertion( "megaconial congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110632"^^xsd:string) AnnotationAssertion(rdfs:label "megaconial type congenital muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rigid spine muscular dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11528383"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12192640"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15122708"^^xsd:string) "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602771"^^xsd:string) AnnotationAssertion( "SEPN1-related disorder"^^xsd:string) AnnotationAssertion( "GARD:4723"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.8"^^xsd:string) AnnotationAssertion( "MESH:C535683"^^xsd:string) AnnotationAssertion( "NCI:C126691"^^xsd:string) AnnotationAssertion( "ORDO:324604"^^xsd:string) AnnotationAssertion( "ORDO:84132"^^xsd:string) AnnotationAssertion( "ORDO:97244"^^xsd:string) AnnotationAssertion( "CMYP3"^^xsd:string) AnnotationAssertion( "Desmin-Related Myopathy With Mallory Bodies"^^xsd:string) AnnotationAssertion( "Desmin-related myopathies with Mallory bodies"^^xsd:string) AnnotationAssertion( "MDRS1"^^xsd:string) AnnotationAssertion( "Minicore myopathy, severe classic form"^^xsd:string) AnnotationAssertion( "Multicore myopathy, severe classic form"^^xsd:string) AnnotationAssertion( "Multiminicore disease, severe classic form"^^xsd:string) AnnotationAssertion( "Multiminicore/minicore/multicore disease"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Congenital, Eichsfeld Type"^^xsd:string) AnnotationAssertion( "RSMD1"^^xsd:string) AnnotationAssertion( "RSS"^^xsd:string) AnnotationAssertion( "SEPN1-related myopathy"^^xsd:string) AnnotationAssertion( "classic MmD"^^xsd:string) AnnotationAssertion( "classic multiminicore disease"^^xsd:string) AnnotationAssertion( "classic multiminicore myopathy"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy with rigid spine"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, merosin positive with early spine rigidity"^^xsd:string) AnnotationAssertion( "congenital myopathy 3 with rigid spine"^^xsd:string) AnnotationAssertion( "desmin-related myopathy with Mallory body-like inclusions"^^xsd:string) AnnotationAssertion( "early-onset desmin-related myopathy"^^xsd:string) AnnotationAssertion( "rigid spine syndrome"^^xsd:string) AnnotationAssertion( "Multi-minicore disease and atypical periodic paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110633"^^xsd:string) AnnotationAssertion(rdfs:label "rigid spine muscular dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital muscular dystrophy 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10677302"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604801"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.2"^^xsd:string) AnnotationAssertion( "MESH:C565748"^^xsd:string) AnnotationAssertion( "ORDO:98893"^^xsd:string) AnnotationAssertion( "MDC1B"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110634"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11592034"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14652796"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606612"^^xsd:string) AnnotationAssertion( "MESH:C564691"^^xsd:string) AnnotationAssertion( "ORDO:52428"^^xsd:string) AnnotationAssertion( "MDC1C"^^xsd:string) AnnotationAssertion( "MDDGB5"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy 1C"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, FKRP-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development, type B5"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110635"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital merosin-deficient muscular dystrophy 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24611677"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7550355"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607855"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, LAMA2-related"^^xsd:string) AnnotationAssertion( "EFO:0009138"^^xsd:string) AnnotationAssertion( "MESH:C537384"^^xsd:string) AnnotationAssertion( "NCI:C118783"^^xsd:string) AnnotationAssertion( "ORDO:258"^^xsd:string) AnnotationAssertion( "CMD1A"^^xsd:string) AnnotationAssertion( "LAMININ ALPHA 2-RELATED DYSTROPHY"^^xsd:string) AnnotationAssertion( "MDC1A"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN DEFICIENT OR PARTIALLY DEFICIENT"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy due to laminin alpha2 deficiency"^^xsd:string) AnnotationAssertion( "merosin-deficient congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "merosin-negative congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110636"^^xsd:string) AnnotationAssertion(rdfs:label "congenital merosin-deficient muscular dystrophy 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12966029"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19067344"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608840"^^xsd:string) AnnotationAssertion( "MESH:C563844"^^xsd:string) AnnotationAssertion( "ORDO:98894"^^xsd:string) AnnotationAssertion( "CONGENITAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY WITH MENTAL RETARDATION, TYPE B6"^^xsd:string) AnnotationAssertion( "MDC1D"^^xsd:string) AnnotationAssertion( "MDDGB6"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, LARGE-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, type 1D"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110637"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital muscular dystrophy due to integrin alpha-7 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590299"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613204"^^xsd:string) AnnotationAssertion( "RDO:0015704"^^xsd:string) AnnotationAssertion( "MESH:C567709"^^xsd:string) AnnotationAssertion( "ORDO:34520"^^xsd:string) AnnotationAssertion( "CONGENITAL MUSCULAR DYSTROPHY, ITGA7-RELATED"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy due to ITGA7 deficiency"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy with ITGA7 deficiency"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy with integrin alpha-7 deficiency"^^xsd:string) AnnotationAssertion( "congenital myopathy due to Integrin Alpha-7 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110639"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy due to integrin alpha-7 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital muscular dystrophy due to LMNA mutation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15148145"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18551513"^^xsd:string) "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613205"^^xsd:string) AnnotationAssertion( "MESH:C567708"^^xsd:string) AnnotationAssertion( "NCI:C148369"^^xsd:string) AnnotationAssertion( "ORDO:157973"^^xsd:string) AnnotationAssertion( "L-CMD"^^xsd:string) AnnotationAssertion( "Mdcl"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy LMNA-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110640"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy due to LMNA mutation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17192539"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000717"^^xsd:string) AnnotationAssertion( "GARD:3284"^^xsd:string) AnnotationAssertion( "MIM:192500"^^xsd:string) AnnotationAssertion( "LQT1"^^xsd:string) AnnotationAssertion( "LQT1 subtype"^^xsd:string) AnnotationAssertion( "long QT syndrome type 1"^^xsd:string) AnnotationAssertion( "long QT syndrome, LQT1 subtype"^^xsd:string) AnnotationAssertion( "ventricular fibrillation with prolonged QT interval"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "LQT1/2, Digenic"^^xsd:string) AnnotationAssertion( "VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC"^^xsd:string) AnnotationAssertion( "long QT syndrome 1, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110644"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7889573"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613688"^^xsd:string) AnnotationAssertion( "KCNH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KCNH2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:3285"^^xsd:string) AnnotationAssertion( "MESH:C563614"^^xsd:string) AnnotationAssertion( "NCI:C137957"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME, BRADYCARDIA-INDUCED"^^xsd:string) AnnotationAssertion( "LQT2"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 2/9, DIGENIC"^^xsd:string) AnnotationAssertion( "LQT2/9, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110645"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8541846"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603830"^^xsd:string) AnnotationAssertion( "GARD:3286"^^xsd:string) AnnotationAssertion( "MESH:C537034"^^xsd:string) AnnotationAssertion( "MESH:C565840"^^xsd:string) AnnotationAssertion( "NCI:C137959"^^xsd:string) AnnotationAssertion( "LQT3"^^xsd:string) AnnotationAssertion( "Long QT Syndrome Type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0110646"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10973849"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613695"^^xsd:string) AnnotationAssertion( "RDO:0015023"^^xsd:string) AnnotationAssertion( "KCNE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10433"^^xsd:string) AnnotationAssertion( "ICD10CM:I45.8"^^xsd:string) AnnotationAssertion( "MESH:C566766"^^xsd:string) AnnotationAssertion( "NCI:C172094"^^xsd:string) AnnotationAssertion( "LQT5"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110647"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10219239"^^xsd:string) "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613693"^^xsd:string) AnnotationAssertion( "KCNE2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:10434"^^xsd:string) AnnotationAssertion( "MESH:C566333"^^xsd:string) AnnotationAssertion( "LQT6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0110648"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34079780"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37132248/"^^xsd:string) Annotation( "https://www.omim.org/MIM:618447"^^xsd:string) "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2024-02-28T17:22:06Z"^^xsd:string) AnnotationAssertion( "MIM:618447"^^xsd:string) AnnotationAssertion( "NCI:C142894"^^xsd:string) AnnotationAssertion( "LQT8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110649"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17060380"^^xsd:string) "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611818"^^xsd:string) AnnotationAssertion( "GARD:10435"^^xsd:string) AnnotationAssertion( "MESH:C567515"^^xsd:string) AnnotationAssertion( "LQT9"^^xsd:string) AnnotationAssertion( "Long Qt Syndrome 2-9"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 2/9, DIGENIC"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "LQT2/9, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110650"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17592081"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611819"^^xsd:string) AnnotationAssertion( "GARD:10436"^^xsd:string) AnnotationAssertion( "MESH:C567514"^^xsd:string) AnnotationAssertion( "LQT10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110651"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18093912"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611820"^^xsd:string) AnnotationAssertion( "GARD:10437"^^xsd:string) AnnotationAssertion( "MESH:C567513"^^xsd:string) AnnotationAssertion( "NCI:C192195"^^xsd:string) AnnotationAssertion( "AKAP9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LQT11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110652"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19684871"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612955"^^xsd:string) AnnotationAssertion( "MESH:C567842"^^xsd:string) AnnotationAssertion( "NCI:C192202"^^xsd:string) AnnotationAssertion( "LQT12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110653"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20560207"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613485"^^xsd:string) AnnotationAssertion( "LQT13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110654"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24076290"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616247"^^xsd:string) AnnotationAssertion( "NCI:C177534"^^xsd:string) AnnotationAssertion( "LQT14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110655"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23388215"^^xsd:string) "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616249"^^xsd:string) AnnotationAssertion( "LQT15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110656"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19631309"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22205389"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000868"^^xsd:string) AnnotationAssertion( "RDO:9003080"^^xsd:string) AnnotationAssertion( "MIM:615120"^^xsd:string) AnnotationAssertion( "CMS8"^^xsd:string) AnnotationAssertion( "CMSPPD"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 8 with pre- and postsynaptic defects"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome due to agrin deficiency"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, with pre- and postsynaptic defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110657"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23404334"^^xsd:string) "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001469"^^xsd:string) AnnotationAssertion( "MIM:616227"^^xsd:string) AnnotationAssertion( "CMS15"^^xsd:string) AnnotationAssertion( "CMSWTA"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 15 without tubular aggregates"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome without tubular aggregates"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110658"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25192047"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "SYT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616040"^^xsd:string) AnnotationAssertion( "CMS7"^^xsd:string) AnnotationAssertion( "MYSPC"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 7 presynaptic"^^xsd:string) AnnotationAssertion( "congenital presynaptic myasthenic syndrome with or without motor neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110659"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12467753"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21310273"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000586"^^xsd:string) AnnotationAssertion( "MIM:610542"^^xsd:string) AnnotationAssertion( "NCI:C168997"^^xsd:string) AnnotationAssertion( "CMS12"^^xsd:string) AnnotationAssertion( "CMSTA1"^^xsd:string) AnnotationAssertion( "Myasthenic Syndrome, Congenital, with Tubular Aggregates 1"^^xsd:string) AnnotationAssertion( "congenital myasthenia 12 with tubular aggregates"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110660"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27569547"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617143"^^xsd:string) AnnotationAssertion( "CMS20"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 20 presynaptic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110661"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10195214"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15079006"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "CHRNA1-related congenital myasthenic syndrome"^^xsd:string) AnnotationAssertion( "MIM:608930"^^xsd:string) AnnotationAssertion( "CMS1B"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 1B, fast-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110662"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7619526"^^xsd:string) "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601462"^^xsd:string) AnnotationAssertion( "CHRNA1-related congenital myasthenic syndrome"^^xsd:string) AnnotationAssertion( "CMS1A"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 1A, slow-channel"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, postsynaptic slow-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CMS IIa (formerly)"^^xsd:string) AnnotationAssertion( "CMS2A (formerly)"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type IIa"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type IIa (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0110663"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 3C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16916845"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001488"^^xsd:string) AnnotationAssertion( "MIM:616323"^^xsd:string) AnnotationAssertion( "CMS3C"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110664"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 3C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 3B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11435464"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616322"^^xsd:string) AnnotationAssertion( "CMS3B"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 3B, fast-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110665"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 3B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11782989"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616321"^^xsd:string) AnnotationAssertion( "CMS3A"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 3A, slow-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110666"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603034"^^xsd:string) AnnotationAssertion( "OMIA:001928"^^xsd:string) AnnotationAssertion( "MESH:C566415"^^xsd:string) AnnotationAssertion( "NCI:C129304"^^xsd:string) AnnotationAssertion( "CMS Ic"^^xsd:string) AnnotationAssertion( "CMS1C"^^xsd:string) AnnotationAssertion( "CMS5"^^xsd:string) AnnotationAssertion( "EAD"^^xsd:string) AnnotationAssertion( "Endplate Acetylcholinesterase Deficiency"^^xsd:string) AnnotationAssertion( "Engel congenital myasthenic syndrome"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type Ic"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, Engel type"^^xsd:string) AnnotationAssertion( "end plate acetylcholinesterase deficiency"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, COLQ-related"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, due to COLQ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110667"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22884442/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16917026"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0110638"^^xsd:string) AnnotationAssertion( "MIM:254300"^^xsd:string) AnnotationAssertion( "MESH:C536089"^^xsd:string) AnnotationAssertion( "MESH:C563716"^^xsd:string) AnnotationAssertion( "CMS Ib"^^xsd:string) AnnotationAssertion( "CMS10"^^xsd:string) AnnotationAssertion( "LGM"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy merosin-positive"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type Ib"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CMS Ib (formerly)"^^xsd:string) AnnotationAssertion( "CMS1B (formerly)"^^xsd:string) AnnotationAssertion( "LGM (formerly)"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type IB (formerly)"^^xsd:string) AnnotationAssertion( "myasthenic myopathy (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0110668"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23404334"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24461433"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001468"^^xsd:string) AnnotationAssertion( "MIM:616228"^^xsd:string) AnnotationAssertion( "CMS14"^^xsd:string) AnnotationAssertion( "CMSTA3"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 14, with tubular aggregates"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome with tubular aggregates 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110669"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15496425"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616325"^^xsd:string) AnnotationAssertion( "CMS9"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110670"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11172068"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12756141"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254210"^^xsd:string) AnnotationAssertion( "OMIA:002072"^^xsd:string) AnnotationAssertion( "RDO:0001050"^^xsd:string) AnnotationAssertion( "MESH:C535759"^^xsd:string) AnnotationAssertion( "NCI:C132292"^^xsd:string) AnnotationAssertion( "CMS Ia2"^^xsd:string) AnnotationAssertion( "CMS1A2"^^xsd:string) AnnotationAssertion( "CMS6"^^xsd:string) AnnotationAssertion( "CMSEA"^^xsd:string) AnnotationAssertion( "FIM"^^xsd:string) AnnotationAssertion( "FIMG2"^^xsd:string) AnnotationAssertion( "MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2"^^xsd:string) AnnotationAssertion( "Myasthenia familial infantile"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 6, presynaptic"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome associated with episodic apnea"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type 1a"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type Ia"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type Ia2"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome with episodic apnea"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, CHAT-related"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, due to CHAT"^^xsd:string) AnnotationAssertion( "congenital presynaptic myasthenic syndrome associated with episodic apnea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110671"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20123977"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27590285"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617239"^^xsd:string) AnnotationAssertion( "CMS21"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 21, presynaptic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110672"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26626625"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616720"^^xsd:string) AnnotationAssertion( "CMS19"^^xsd:string) AnnotationAssertion( "COL13A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110673"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24234652"^^xsd:string) "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616304"^^xsd:string) AnnotationAssertion( "CMS17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110674"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12651869"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616326"^^xsd:string) AnnotationAssertion( "MESH:C563831"^^xsd:string) AnnotationAssertion( "NCI:C177546"^^xsd:string) AnnotationAssertion( "CMS IE"^^xsd:string) AnnotationAssertion( "CMS11"^^xsd:string) AnnotationAssertion( "CMS1E"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 1E"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome IE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110675"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16870884"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22742743"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614750"^^xsd:string) AnnotationAssertion( "CMS13"^^xsd:string) AnnotationAssertion( "CMSTA2"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 13 with tubular aggregates"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome with tubular aggregates 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110676"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 4B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8755487"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616324"^^xsd:string) AnnotationAssertion( "CMS4B"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 4B, fast-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110677"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 4B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12141316"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7531341"^^xsd:string) "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605809"^^xsd:string) AnnotationAssertion( "MESH:C565289"^^xsd:string) AnnotationAssertion( "CMS Ia1"^^xsd:string) AnnotationAssertion( "CMS1A1"^^xsd:string) AnnotationAssertion( "CMS4A"^^xsd:string) AnnotationAssertion( "Congenital Myasthenic Syndrome Type Ia1"^^xsd:string) AnnotationAssertion( "Myasthenia, Familial Infantile, 1"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 4A, slow-channel"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrometype Ia1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110678"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 4A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 4C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8957026"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608931"^^xsd:string) AnnotationAssertion( "MESH:C536090"^^xsd:string) AnnotationAssertion( "NCI:C174216"^^xsd:string) AnnotationAssertion( "CMS Id"^^xsd:string) AnnotationAssertion( "CMS1D"^^xsd:string) AnnotationAssertion( "CMS4C"^^xsd:string) AnnotationAssertion( "FIM1"^^xsd:string) AnnotationAssertion( "Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome type Id"^^xsd:string) AnnotationAssertion( "familial infantile myasthenia 1"^^xsd:string) AnnotationAssertion( "postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FIM1 (formerly)"^^xsd:string) AnnotationAssertion( "familial infantile myasthenia 1 (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0110679"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 4C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10562302"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004859"^^xsd:string) AnnotationAssertion( "MIM:616314"^^xsd:string) AnnotationAssertion( "CMS2C"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110680"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25792100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8872460"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003082"^^xsd:string) AnnotationAssertion( "MIM:616313"^^xsd:string) AnnotationAssertion( "CMS IIA"^^xsd:string) AnnotationAssertion( "CMS2A"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 2A slow-channel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110681"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12766226"^^xsd:string) "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614198"^^xsd:string) AnnotationAssertion( "RDO:0014367"^^xsd:string) AnnotationAssertion( "RDO:9000585"^^xsd:string) AnnotationAssertion( "MESH:C565830"^^xsd:string) AnnotationAssertion( "CMS16"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, acetazolamide-responsive"^^xsd:string) AnnotationAssertion( "myasthenic syndrome due to mutation in SCN4A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110682"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25381298"^^xsd:string) "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616330"^^xsd:string) AnnotationAssertion( "CMS18"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 18 with intellectual disability and ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110683"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10878665"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605389"^^xsd:string) AnnotationAssertion( "MESH:C537160"^^xsd:string) AnnotationAssertion( "HHS"^^xsd:string) AnnotationAssertion( "HTS"^^xsd:string) AnnotationAssertion( "HYPT1"^^xsd:string) AnnotationAssertion( "hereditary generalized hypotrichosis simplex"^^xsd:string) AnnotationAssertion( "hereditary generelized hypotrichosis simplex"^^xsd:string) AnnotationAssertion( "hereditary hypotrichosis simplex"^^xsd:string) AnnotationAssertion( "hypotrichosis simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110698"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12754508"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146520"^^xsd:string) AnnotationAssertion( "MESH:C564143"^^xsd:string) AnnotationAssertion( "HTSS"^^xsd:string) AnnotationAssertion( "HTSS1"^^xsd:string) AnnotationAssertion( "HYPT2"^^xsd:string) AnnotationAssertion( "hypotrichosis simplex of scalp"^^xsd:string) AnnotationAssertion( "hypotrichosis simplex of the scalp 1"^^xsd:string) AnnotationAssertion( "hypotrichosis, Spanish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110699"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21188418"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613981"^^xsd:string) AnnotationAssertion( "HTSS2"^^xsd:string) AnnotationAssertion( "HYPOTRICHOSIS SIMPLEX OF THE SCALP 2"^^xsd:string) AnnotationAssertion( "HYPT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110700"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19122663"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146550"^^xsd:string) AnnotationAssertion( "MESH:C535912"^^xsd:string) AnnotationAssertion( "MESH:C567718"^^xsd:string) AnnotationAssertion( "HYPT4"^^xsd:string) AnnotationAssertion( "MUHH1"^^xsd:string) AnnotationAssertion( "Marie Unna congenital hypotrichosis"^^xsd:string) AnnotationAssertion( "Marie Unna hereditary hypotrichosis"^^xsd:string) AnnotationAssertion( "Marie Unna hereditary hypotrichosis 1"^^xsd:string) AnnotationAssertion( "Marie Unna type hypotrichosis"^^xsd:string) AnnotationAssertion( "Marie Unna type hypotrichosis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110701"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16185270"^^xsd:string) "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612841"^^xsd:string) AnnotationAssertion( "MESH:C567554"^^xsd:string) AnnotationAssertion( "MONDO:0013017"^^xsd:string) AnnotationAssertion( "HYPT5"^^xsd:string) AnnotationAssertion( "MUHH2"^^xsd:string) AnnotationAssertion( "Marie Unna hereditary hypotrichosis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110702"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12891384"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607903"^^xsd:string) AnnotationAssertion( "MESH:C564312"^^xsd:string) AnnotationAssertion( "HTL"^^xsd:string) AnnotationAssertion( "HYPT6"^^xsd:string) AnnotationAssertion( "LAH"^^xsd:string) AnnotationAssertion( "LAH1"^^xsd:string) AnnotationAssertion( "MONILETHRIX-LIKE HYPOTRICHOSIS"^^xsd:string) AnnotationAssertion( "localized hypotrichosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "localized hypotrichosis, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110703"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20393562"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:604379"^^xsd:string) AnnotationAssertion( "Hypotrichosis, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "woolly hair, autosomal recessive 2, with or without hypotrichosis"^^xsd:string) AnnotationAssertion( "EFO:0009163"^^xsd:string) AnnotationAssertion( "MESH:C536973"^^xsd:string) AnnotationAssertion( "HYPT7"^^xsd:string) AnnotationAssertion( "Hypotrichosis, Localized, Autosomal Recessive, 2"^^xsd:string) AnnotationAssertion( "LAH2"^^xsd:string) AnnotationAssertion( "alopecia universalis congenita, Mari type"^^xsd:string) AnnotationAssertion( "total hypotrichosis, Mari type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110704"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18297072"^^xsd:string) "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566950"^^xsd:string) AnnotationAssertion( "MIM:278150"^^xsd:string) AnnotationAssertion( "ORDO:55654"^^xsd:string) AnnotationAssertion( "HYPT8"^^xsd:string) AnnotationAssertion( "LAH3"^^xsd:string) AnnotationAssertion( "localized hypotrichosis, autosomal recessive 3"^^xsd:string) AnnotationAssertion( "ARWH1"^^xsd:string) AnnotationAssertion( "autosomal recessive woolly hair 1, with or without hypotrichosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110705"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20054564"^^xsd:string) "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614237"^^xsd:string) AnnotationAssertion( "HYPT9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110706"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20544222"^^xsd:string) "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614238"^^xsd:string) AnnotationAssertion( "HYPT10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110707"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23246290"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615059"^^xsd:string) AnnotationAssertion( "MONDO:0014027"^^xsd:string) AnnotationAssertion( "HYPT11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110708"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21412954"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615885"^^xsd:string) AnnotationAssertion( "ORDO:55654"^^xsd:string) AnnotationAssertion( "HYPT12"^^xsd:string) AnnotationAssertion( "hypotrichosis type 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110709"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22592156"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615896"^^xsd:string) AnnotationAssertion( "HYPT13"^^xsd:string) AnnotationAssertion( "hypotrichosis with woolly hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110710"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital hypotrichosis with juvenile macular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11544476"^^xsd:string) "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601553"^^xsd:string) AnnotationAssertion( "CDH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3066"^^xsd:string) AnnotationAssertion( "MESH:C537698"^^xsd:string) AnnotationAssertion( "HJMD"^^xsd:string) AnnotationAssertion( "HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "hypotrichosis with cone-rod dystrophy"^^xsd:string) AnnotationAssertion( "juvenile macular degeneration and hypotrichosis"^^xsd:string) AnnotationAssertion( "juvenile macular dystrophy and congenital hypotrichosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110711"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hypotrichosis with juvenile macular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oguchi disease-1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15234147"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7670478"^^xsd:string) "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:258100"^^xsd:string) AnnotationAssertion( "CSNBO1"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness Oguchi type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110712"^^xsd:string) AnnotationAssertion(rdfs:label "Oguchi disease-1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oguchi disease-2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7670478"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9020843"^^xsd:string) "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613411"^^xsd:string) AnnotationAssertion( "CSNBO2"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness Oguchi type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110713"^^xsd:string) AnnotationAssertion(rdfs:label "Oguchi disease-2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22190596"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001516"^^xsd:string) AnnotationAssertion( "MIM:616389"^^xsd:string) AnnotationAssertion( "CSNB1G"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness type 1G"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110714"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness autosomal dominant 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8673138"^^xsd:string) "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610444"^^xsd:string) AnnotationAssertion( "MESH:C566475"^^xsd:string) AnnotationAssertion( "CSNBAD3"^^xsd:string) AnnotationAssertion( "Nougaret type congenital stationary night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110715"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness autosomal dominant 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Warburg micro syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20512159"^^xsd:string) "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RAB3GAP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RAB3GAP1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:600118"^^xsd:string) AnnotationAssertion( "Micro Syndrome 1"^^xsd:string) AnnotationAssertion( "WARBM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110716"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Warburg micro syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20967465"^^xsd:string) "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000855"^^xsd:string) AnnotationAssertion( "MIM:614225"^^xsd:string) AnnotationAssertion( "MICRO SYNDROME 2"^^xsd:string) AnnotationAssertion( "WARBM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110717"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Warburg micro syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15216543"^^xsd:string) "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000856"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.0"^^xsd:string) AnnotationAssertion( "MIM:614222"^^xsd:string) AnnotationAssertion( "MICRO SYNDROME 3"^^xsd:string) AnnotationAssertion( "WARBM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110718"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Warburg micro syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24239381"^^xsd:string) "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615663"^^xsd:string) AnnotationAssertion( "WARBM4"^^xsd:string) AnnotationAssertion( "micro syndrome 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110719"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg micro syndrome 4"^^xsd:string) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21820099"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22073189"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:162350"^^xsd:string) AnnotationAssertion( "NCI:C128116"^^xsd:string) AnnotationAssertion( "ORDO:228343"^^xsd:string) AnnotationAssertion( "CLN4B"^^xsd:string) AnnotationAssertion( "CLN4B disease"^^xsd:string) AnnotationAssertion( "Kufs disease, autosomal dominant"^^xsd:string) AnnotationAssertion( "autosomal dominant neuronal ceroid lipofuscinosis 4B"^^xsd:string) AnnotationAssertion( "autosomal dominant neuronal ceroid lipofuscinosis 4B (Kufs type)"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 4 Parry type"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 4B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110720"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7637805"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537948"^^xsd:string) AnnotationAssertion( "MIM:256730"^^xsd:string) AnnotationAssertion( "OMIA:001504"^^xsd:string) AnnotationAssertion( "GARD:1219"^^xsd:string) AnnotationAssertion( "MESH:C564953"^^xsd:string) AnnotationAssertion( "ORDO:228329"^^xsd:string) AnnotationAssertion( "CLN1"^^xsd:string) AnnotationAssertion( "INCL"^^xsd:string) AnnotationAssertion( "PPT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Santavuori disease"^^xsd:string) AnnotationAssertion( "Santavuori-Haltia disease"^^xsd:string) AnnotationAssertion( "infantile neuronal ceroid lipofuscinosis (INCL)"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 1, infantile"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 1, variable age of onset"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, infantile"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, infantile Finnish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110721"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564970"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610951"^^xsd:string) AnnotationAssertion( "OMIA:001962"^^xsd:string) AnnotationAssertion( "GARD:1220"^^xsd:string) AnnotationAssertion( "MESH:C563989"^^xsd:string) AnnotationAssertion( "ORDO:228366"^^xsd:string) AnnotationAssertion( "CLN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110722"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15024724"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15074367"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600143"^^xsd:string) AnnotationAssertion( "OMIA:001506"^^xsd:string) AnnotationAssertion( "MESH:C537952"^^xsd:string) AnnotationAssertion( "ORDO:228354"^^xsd:string) AnnotationAssertion( "CLN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110723"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 8 northern epilepsy variant) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8014963"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8743986"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2163"^^xsd:string) AnnotationAssertion( "GARD:4010"^^xsd:string) AnnotationAssertion( "MIM:610003"^^xsd:string) AnnotationAssertion( "ORDO:1947"^^xsd:string) AnnotationAssertion( "EPMR"^^xsd:string) AnnotationAssertion( "Northern epilepsy"^^xsd:string) AnnotationAssertion( "Northern epilepsy syndrome"^^xsd:string) AnnotationAssertion( "Northern epilepsy variant"^^xsd:string) AnnotationAssertion( "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant"^^xsd:string) AnnotationAssertion( "progressive epilepsy with mental retardation"^^xsd:string) AnnotationAssertion( "progressive epilepsy with mental retardation, northern epilepsy"^^xsd:string) AnnotationAssertion( "progressive epilepsy-intellectual disability syndrome, Finnish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110724"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 8 northern epilepsy variant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16685649"^^xsd:string) "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610127"^^xsd:string) AnnotationAssertion( "OMIA:001505"^^xsd:string) AnnotationAssertion( "GARD:1218"^^xsd:string) AnnotationAssertion( "MESH:C566438"^^xsd:string) AnnotationAssertion( "ORDO:228337"^^xsd:string) AnnotationAssertion( "CLN10"^^xsd:string) AnnotationAssertion( "Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient"^^xsd:string) AnnotationAssertion( "cathepsin D deficiency"^^xsd:string) AnnotationAssertion( "congenital neuronal ceroid lipofuscinosis"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis due to cathepsin D deficiency"^^xsd:string) AnnotationAssertion( "NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110725"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18684116"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:204500"^^xsd:string) AnnotationAssertion( "OMIA:001472"^^xsd:string) AnnotationAssertion( "TPP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3045"^^xsd:string) AnnotationAssertion( "MESH:C566857"^^xsd:string) AnnotationAssertion( "MONDO:0008769"^^xsd:string) AnnotationAssertion( "NCI:C85864"^^xsd:string) AnnotationAssertion( "ORDO:228349"^^xsd:string) AnnotationAssertion( "CLN2"^^xsd:string) AnnotationAssertion( "Jansky-Bielschowsky disease"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 2 variable age at onset"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LINCL"^^xsd:string) AnnotationAssertion( "NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE"^^xsd:string) AnnotationAssertion( "DOID:0110726"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23297359"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.4"^^xsd:string) AnnotationAssertion( "MIM:615362"^^xsd:string) AnnotationAssertion( "ORDO:352709"^^xsd:string) AnnotationAssertion( "CLN13"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 13 Kufs type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110727"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9662406"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256731"^^xsd:string) AnnotationAssertion( "OMIA:001482"^^xsd:string) AnnotationAssertion( "vLINCL"^^xsd:string) AnnotationAssertion( "GARD:1223"^^xsd:string) AnnotationAssertion( "MESH:C575534"^^xsd:string) AnnotationAssertion( "ORDO:228360"^^xsd:string) AnnotationAssertion( "CLN5"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 5 variable age of onset"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 5, variable age at onset"^^xsd:string) AnnotationAssertion( "Finnish vLINCL"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, Finnish variant, late infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110728"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 6A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15996215"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601780"^^xsd:string) AnnotationAssertion( "OMIA:001443"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, late infantile variant"^^xsd:string) AnnotationAssertion( "vLINCL"^^xsd:string) AnnotationAssertion( "GARD:1224"^^xsd:string) AnnotationAssertion( "MESH:C566627"^^xsd:string) AnnotationAssertion( "ORDO:228363"^^xsd:string) AnnotationAssertion( "CLN6"^^xsd:string) AnnotationAssertion( "CLN6A"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 6"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 6 variable age of onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110729"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 6A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 6B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21549341"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:204300"^^xsd:string) AnnotationAssertion( "ORDO:228340"^^xsd:string) AnnotationAssertion( "CLN4A"^^xsd:string) AnnotationAssertion( "CLN6B"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 4A"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 4A (Kufs type), autosomal recessive"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 4A, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110730"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 6B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/cln3-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965709"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7553855"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5897"^^xsd:string) AnnotationAssertion( "MIM:204200"^^xsd:string) AnnotationAssertion( "MONDO:0008767"^^xsd:string) AnnotationAssertion( "NCI:C61258"^^xsd:string) AnnotationAssertion( "ORDO:228346"^^xsd:string) AnnotationAssertion( "Batten Spielmeyer Vogt disease"^^xsd:string) AnnotationAssertion( "Batten disease"^^xsd:string) AnnotationAssertion( "CLN3"^^xsd:string) AnnotationAssertion( "CLN3-related neuronal ceroid lipofuscinoses"^^xsd:string) AnnotationAssertion( "CLN3-related neuronal ceroid lipofuscinosis"^^xsd:string) AnnotationAssertion( "JNCL"^^xsd:string) AnnotationAssertion( "Juvenile Batten Disease"^^xsd:string) AnnotationAssertion( "Juvenile Batten Diseases"^^xsd:string) AnnotationAssertion( "Juvenile Neuronal Ceroid Lipofuscinosis"^^xsd:string) AnnotationAssertion( "Spielmeyer Sjogren disease"^^xsd:string) AnnotationAssertion( "Spielmeyer-Sjogren diseases"^^xsd:string) AnnotationAssertion( "Vogt-Spielmeyer disease"^^xsd:string) AnnotationAssertion( "Vogt-Spielmeyer diseases"^^xsd:string) AnnotationAssertion( "juvenile neuronal ceroid lipofuscinosis 3"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, juvenile type"^^xsd:string) AnnotationAssertion( "protracted neuronal ceroid lipofuscinosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110731"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22608501"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614706"^^xsd:string) AnnotationAssertion( "ORDO:314629"^^xsd:string) AnnotationAssertion( "CLN11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110732"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15349861"^^xsd:string) "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609055"^^xsd:string) AnnotationAssertion( "GARD:6618"^^xsd:string) AnnotationAssertion( "MESH:C537953"^^xsd:string) AnnotationAssertion( "ORDO:228357"^^xsd:string) AnnotationAssertion( "CLN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110733"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/11899/index"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18981035"^^xsd:string) Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page"^^xsd:string) "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002105"^^xsd:string) AnnotationAssertion( "RDO:0004395"^^xsd:string) AnnotationAssertion( "GARD:11899"^^xsd:string) AnnotationAssertion( "MESH:C538421"^^xsd:string) AnnotationAssertion( "MIM:PS234200"^^xsd:string) AnnotationAssertion( "ORDO:385"^^xsd:string) AnnotationAssertion( "NBIA"^^xsd:string) AnnotationAssertion( "Neurodegeneration with brain iron accumulation (NBIA)"^^xsd:string) AnnotationAssertion( "Neuroaxonal dystrophy, PLA2G6-related"^^xsd:string) AnnotationAssertion( "Neurodegeneration with brain iron accumulation 1, atypical"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Iron Accumulation In Brain"^^xsd:string) AnnotationAssertion( "DOID:0110734"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 2A) AnnotationAssertion(Annotation( "https://omim.org/entry/256600"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18443314"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2751"^^xsd:string) AnnotationAssertion( "MIM:256600"^^xsd:string) AnnotationAssertion( "NCI:C202073"^^xsd:string) AnnotationAssertion( "NCI:C84927"^^xsd:string) AnnotationAssertion( "INAD"^^xsd:string) AnnotationAssertion( "INAD1"^^xsd:string) AnnotationAssertion( "Infantile neuroaxonal dystrophy 1"^^xsd:string) AnnotationAssertion( "NBIA2A"^^xsd:string) AnnotationAssertion( "PLAN"^^xsd:string) AnnotationAssertion( "Seitelberger disease"^^xsd:string) AnnotationAssertion( "Seitelberger's disease"^^xsd:string) AnnotationAssertion( "Seitelbergers disease"^^xsd:string) AnnotationAssertion( "infantile neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "neurodegeneration, PLA2G6-associated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110735"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18799783"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610217"^^xsd:string) AnnotationAssertion( "MESH:C565699"^^xsd:string) AnnotationAssertion( "NBIA2B"^^xsd:string) AnnotationAssertion( "Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related"^^xsd:string) AnnotationAssertion( "atypical neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110736"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16116125"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606159"^^xsd:string) AnnotationAssertion( "MESH:C548080"^^xsd:string) AnnotationAssertion( "ORDO:157846"^^xsd:string) AnnotationAssertion( "NBIA3"^^xsd:string) AnnotationAssertion( "adult basal ganglia disease"^^xsd:string) AnnotationAssertion( "basal ganglia disease, adult-onset"^^xsd:string) AnnotationAssertion( "ferritin-related neurodegeneration"^^xsd:string) AnnotationAssertion( "hereditary ferritinopathy"^^xsd:string) AnnotationAssertion( "neuroferritinopathy"^^xsd:string) AnnotationAssertion( "neuroferritinopathy; basal ganglia disease, adult-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110737"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23269600"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614298"^^xsd:string) AnnotationAssertion( "NCI:C175707"^^xsd:string) AnnotationAssertion( "ORDO:289560"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION"^^xsd:string) AnnotationAssertion( "MPAN"^^xsd:string) AnnotationAssertion( "NBIA due to C19orf12 mutation"^^xsd:string) AnnotationAssertion( "NBIA4"^^xsd:string) AnnotationAssertion( "neurodegeneration with brain iron accumulation due to C19orf12 mutation"^^xsd:string) AnnotationAssertion( "neurodegeneration with brain iron accumulation type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110738"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23176820"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300894"^^xsd:string) AnnotationAssertion( "NCI:C175210"^^xsd:string) AnnotationAssertion( "ORDO:329284"^^xsd:string) AnnotationAssertion( "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION"^^xsd:string) AnnotationAssertion( "BPAN"^^xsd:string) AnnotationAssertion( "NBIA5"^^xsd:string) AnnotationAssertion( "SENDA"^^xsd:string) AnnotationAssertion( "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110739"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodegeneration with brain iron accumulation 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24360804"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "COASY-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:G23.0"^^xsd:string) AnnotationAssertion( "MIM:615643"^^xsd:string) AnnotationAssertion( "ORDO:397725"^^xsd:string) AnnotationAssertion( "CoPAN"^^xsd:string) AnnotationAssertion( "NBIA6"^^xsd:string) AnnotationAssertion( "Neurodegeneration with brain iron accumulation due to COASY mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110740"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegeneration with brain iron accumulation 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (type 1 diabetes mellitus 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6363172"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125852"^^xsd:string) AnnotationAssertion( "MESH:C565100"^^xsd:string) AnnotationAssertion( "IDDM2"^^xsd:string) AnnotationAssertion( "T1D2"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110741"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (type 1 diabetes mellitus 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7842018"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600318"^^xsd:string) AnnotationAssertion( "MESH:C563960"^^xsd:string) AnnotationAssertion( "IDDM3"^^xsd:string) AnnotationAssertion( "T1D3"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110742"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 3"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9683605"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600319"^^xsd:string) AnnotationAssertion( "MESH:C563959"^^xsd:string) AnnotationAssertion( "IDDM4"^^xsd:string) AnnotationAssertion( "T1D4"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110743"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 4"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15247916"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600320"^^xsd:string) AnnotationAssertion( "MESH:C563958"^^xsd:string) AnnotationAssertion( "IDDM5"^^xsd:string) AnnotationAssertion( "T1D5"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110744"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 5"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9215667"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601941"^^xsd:string) AnnotationAssertion( "MESH:C566603"^^xsd:string) AnnotationAssertion( "IDDM6"^^xsd:string) AnnotationAssertion( "T1D6"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 6"^^xsd:string) AnnotationAssertion( "AITD5"^^xsd:string) AnnotationAssertion( "autoimmune thyroid disease, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110745"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 6"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7704030"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600321"^^xsd:string) AnnotationAssertion( "MESH:C563957"^^xsd:string) AnnotationAssertion( "IDDM7"^^xsd:string) AnnotationAssertion( "T1D7"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110746"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 7"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7573053"^^xsd:string) "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600883"^^xsd:string) AnnotationAssertion( "MESH:C563433"^^xsd:string) AnnotationAssertion( "IDDM8"^^xsd:string) AnnotationAssertion( "T1D8"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110747"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 8"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8072542"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601942"^^xsd:string) AnnotationAssertion( "MESH:C566602"^^xsd:string) AnnotationAssertion( "IDDM10"^^xsd:string) AnnotationAssertion( "T1D10"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110749"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 10"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8617492"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601208"^^xsd:string) AnnotationAssertion( "MESH:C563371"^^xsd:string) AnnotationAssertion( "IDDM11"^^xsd:string) AnnotationAssertion( "T1D11"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110750"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 11"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8817351"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601388"^^xsd:string) AnnotationAssertion( "MESH:C563326"^^xsd:string) AnnotationAssertion( "IDDM12"^^xsd:string) AnnotationAssertion( "T1D12"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110751"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 12"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8650584"^^xsd:string) "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601318"^^xsd:string) AnnotationAssertion( "MESH:C563352"^^xsd:string) AnnotationAssertion( "IDDM13"^^xsd:string) AnnotationAssertion( "T1D13"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110752"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 13"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8981961"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601666"^^xsd:string) AnnotationAssertion( "MESH:C566645"^^xsd:string) AnnotationAssertion( "IDDM15"^^xsd:string) AnnotationAssertion( "T1D15"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110753"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 15"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9788970"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603266"^^xsd:string) AnnotationAssertion( "MESH:C566395"^^xsd:string) AnnotationAssertion( "IDDM17"^^xsd:string) AnnotationAssertion( "T1D17"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110754"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 17"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11175794"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605598"^^xsd:string) AnnotationAssertion( "ICD10CM:E10"^^xsd:string) AnnotationAssertion( "MESH:C565315"^^xsd:string) AnnotationAssertion( "IDDM18"^^xsd:string) AnnotationAssertion( "T1D18"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110755"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 18"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16699517"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610155"^^xsd:string) AnnotationAssertion( "MESH:C565715"^^xsd:string) AnnotationAssertion( "IDDM19"^^xsd:string) AnnotationAssertion( "T1D19"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110756"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 19"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9313763"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612520"^^xsd:string) AnnotationAssertion( "MESH:C567286"^^xsd:string) AnnotationAssertion( "IDDM20"^^xsd:string) AnnotationAssertion( "T1D20"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110757"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 20"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19073967"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612521"^^xsd:string) AnnotationAssertion( "MESH:C567285"^^xsd:string) AnnotationAssertion( "IDDM21"^^xsd:string) AnnotationAssertion( "T1D21"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110758"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 21"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19073967"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612522"^^xsd:string) AnnotationAssertion( "MESH:C567284"^^xsd:string) AnnotationAssertion( "IDDM22"^^xsd:string) AnnotationAssertion( "T1D22"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110759"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 22"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8072542"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612622"^^xsd:string) AnnotationAssertion( "MESH:C567233"^^xsd:string) AnnotationAssertion( "IDDM23"^^xsd:string) AnnotationAssertion( "T1D23"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110760"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 23"^^xsd:string) SubClassOf( ) # Class: (type 1 diabetes mellitus 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19430480"^^xsd:string) "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613006"^^xsd:string) AnnotationAssertion( "MESH:C567818"^^xsd:string) AnnotationAssertion( "IDDM24"^^xsd:string) AnnotationAssertion( "T1D24"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110761"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus 24"^^xsd:string) SubClassOf( ) # Class: (hereditary spastic paraplegia 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12355402"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604187"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia"^^xsd:string) AnnotationAssertion( "GARD:9590"^^xsd:string) AnnotationAssertion( "MESH:C537482"^^xsd:string) AnnotationAssertion( "ORDO:100991"^^xsd:string) AnnotationAssertion( "SPG10"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 10"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 10"^^xsd:string) AnnotationAssertion( "spastic paraplegia 10 with or without peripheral neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110763"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17322883"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538335"^^xsd:string) AnnotationAssertion( "MIM:604360"^^xsd:string) AnnotationAssertion( "GARD:4919"^^xsd:string) AnnotationAssertion( "MESH:C537483"^^xsd:string) AnnotationAssertion( "ORDO:2822"^^xsd:string) AnnotationAssertion( "Hsp-Tcc"^^xsd:string) AnnotationAssertion( "Nakamura-Osame syndrome"^^xsd:string) AnnotationAssertion( "SPG11"^^xsd:string) AnnotationAssertion( "SPG11-related hereditary spastic paraplegia with thin corpus callosum"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 11"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia complicated with thin corpus callosum"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 11"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 11"^^xsd:string) AnnotationAssertion( "spastic paraplegia, mental retardation and thin corpus callosum"^^xsd:string) AnnotationAssertion( "spastic paraplegia-intellectual disability-thin corpus callosum syndrome"^^xsd:string) AnnotationAssertion( "GAIT DISTURBANCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110764"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22232211"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9586"^^xsd:string) AnnotationAssertion( "MESH:C537484"^^xsd:string) AnnotationAssertion( "MIM:604805"^^xsd:string) AnnotationAssertion( "MONDO:0011489"^^xsd:string) AnnotationAssertion( "ORDO:100993"^^xsd:string) AnnotationAssertion( "SPG12"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 12"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110765"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11898127"^^xsd:string) "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605280"^^xsd:string) AnnotationAssertion( "RDO:0003331"^^xsd:string) AnnotationAssertion( "GARD:9616"^^xsd:string) AnnotationAssertion( "MESH:C537485"^^xsd:string) AnnotationAssertion( "ORDO:100994"^^xsd:string) AnnotationAssertion( "SPG13"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110766"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10877981"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605229"^^xsd:string) AnnotationAssertion( "RDO:0003332"^^xsd:string) AnnotationAssertion( "GARD:9589"^^xsd:string) AnnotationAssertion( "MESH:C537486"^^xsd:string) AnnotationAssertion( "ORDO:100995"^^xsd:string) AnnotationAssertion( "SPG14"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 14"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110767"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18394578"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270700"^^xsd:string) AnnotationAssertion( "GARD:9581"^^xsd:string) AnnotationAssertion( "MESH:C536642"^^xsd:string) AnnotationAssertion( "ORDO:100996"^^xsd:string) AnnotationAssertion( "Kjellin syndrome"^^xsd:string) AnnotationAssertion( "SPG15"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 15"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 15"^^xsd:string) AnnotationAssertion( "hereditary spastic paraparesis type 15"^^xsd:string) AnnotationAssertion( "recessive spastic paraplegia with retinal degeneration"^^xsd:string) AnnotationAssertion( "spastic paraplegia 15"^^xsd:string) AnnotationAssertion( "spastic paraplegia and retinal degeneration"^^xsd:string) AnnotationAssertion( "spastic paraplegia-retinal degeneration syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110768"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9254866"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300266"^^xsd:string) AnnotationAssertion( "RDO:0002283"^^xsd:string) AnnotationAssertion( "GARD:9585"^^xsd:string) AnnotationAssertion( "MESH:C536643"^^xsd:string) AnnotationAssertion( "ORDO:100997"^^xsd:string) AnnotationAssertion( "SPG16"^^xsd:string) AnnotationAssertion( "X-linked spastic paraplegia 16"^^xsd:string) AnnotationAssertion( "X-linked spastic paraplegia type 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110769"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14981520"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270685"^^xsd:string) AnnotationAssertion( "GARD:4219"^^xsd:string) AnnotationAssertion( "MESH:C536644"^^xsd:string) AnnotationAssertion( "ORDO:100998"^^xsd:string) AnnotationAssertion( "SPG17"^^xsd:string) AnnotationAssertion( "Silver spastic paraplegia syndrome"^^xsd:string) AnnotationAssertion( "Silver syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 17"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 17"^^xsd:string) AnnotationAssertion( "spastic paraplegia 17"^^xsd:string) AnnotationAssertion( "spastic paraplegia with amyotrophy of hands and feet"^^xsd:string) AnnotationAssertion( "spastic paraplegia-amyotrophy of hands and feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dHMN5B"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type 5B"^^xsd:string) AnnotationAssertion( "DOID:0110770"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21330303"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611225"^^xsd:string) AnnotationAssertion( "MIM:620512"^^xsd:string) AnnotationAssertion( "GARD:4922"^^xsd:string) AnnotationAssertion( "MESH:C567628"^^xsd:string) AnnotationAssertion( "ORDO:209951"^^xsd:string) AnnotationAssertion( "IDMDC"^^xsd:string) AnnotationAssertion( "SPG18"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 18"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 18"^^xsd:string) AnnotationAssertion( "intellectual disability, motor dysfunction, and joint contractures"^^xsd:string) AnnotationAssertion( "SPG18A"^^xsd:string) AnnotationAssertion( "SPG18B"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 18A"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 18B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110771"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 18"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12112072"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607152"^^xsd:string) AnnotationAssertion( "RDO:0002569"^^xsd:string) AnnotationAssertion( "GARD:9588"^^xsd:string) AnnotationAssertion( "MESH:C536856"^^xsd:string) AnnotationAssertion( "ORDO:100999"^^xsd:string) AnnotationAssertion( "SPG19"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 19"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110772"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8012387"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312920"^^xsd:string) AnnotationAssertion( "GARD:4923"^^xsd:string) AnnotationAssertion( "MESH:C536857"^^xsd:string) AnnotationAssertion( "ORDO:99015"^^xsd:string) AnnotationAssertion( "SPG2"^^xsd:string) AnnotationAssertion( "SPPX2"^^xsd:string) AnnotationAssertion( "X-linked spastic paraplegia 2"^^xsd:string) AnnotationAssertion( "spastic paraplegia 2"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110773"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14681889"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270750"^^xsd:string) AnnotationAssertion( "DSTYK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:336"^^xsd:string) AnnotationAssertion( "MESH:C536859"^^xsd:string) AnnotationAssertion( "ORDO:101003"^^xsd:string) AnnotationAssertion( "Abdallat Davis Farrage syndrome"^^xsd:string) AnnotationAssertion( "Abdallat syndrome"^^xsd:string) AnnotationAssertion( "Lison syndrome"^^xsd:string) AnnotationAssertion( "SPG23"^^xsd:string) AnnotationAssertion( "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome"^^xsd:string) AnnotationAssertion( "spastic paraparesis, vitiligo, premature graying, characteristic facies"^^xsd:string) AnnotationAssertion( "spastic paraplegia 23"^^xsd:string) AnnotationAssertion( "spastic paraplegia and pigmentary abnormalities"^^xsd:string) AnnotationAssertion( "spastic paraplegia with pigmentary abnormalities"^^xsd:string) AnnotationAssertion( "spastic paraplegia, vitiligo, premature graying and characteristic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110774"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 23"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12499481"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564375"^^xsd:string) AnnotationAssertion( "MIM:607584"^^xsd:string) AnnotationAssertion( "GARD:9296"^^xsd:string) AnnotationAssertion( "MESH:C536860"^^xsd:string) AnnotationAssertion( "ORDO:101004"^^xsd:string) AnnotationAssertion( "SPG24"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 24"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110775"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 24"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12070243"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608220"^^xsd:string) AnnotationAssertion( "RDO:0002574"^^xsd:string) AnnotationAssertion( "GARD:9582"^^xsd:string) AnnotationAssertion( "MESH:C536861"^^xsd:string) AnnotationAssertion( "ORDO:101005"^^xsd:string) AnnotationAssertion( "Disc Herniation With Spastic Paraplegia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "SPG25"^^xsd:string) AnnotationAssertion( "Spinal disc herniation with autosomal recessive spastic paraplegia"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 25"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110776"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 25"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23746551"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609195"^^xsd:string) AnnotationAssertion( "RDO:0002575"^^xsd:string) AnnotationAssertion( "GARD:9587"^^xsd:string) AnnotationAssertion( "MESH:C536862"^^xsd:string) AnnotationAssertion( "ORDO:101006"^^xsd:string) AnnotationAssertion( "GM2 synthase deficiency"^^xsd:string) AnnotationAssertion( "SPG26"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 26"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110777"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15455396"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609041"^^xsd:string) AnnotationAssertion( "RDO:0012972"^^xsd:string) AnnotationAssertion( "MESH:C563807"^^xsd:string) AnnotationAssertion( "ORDO:101007"^^xsd:string) AnnotationAssertion( "SPG27"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 27"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110778"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23176821"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609340"^^xsd:string) AnnotationAssertion( "MESH:C563732"^^xsd:string) AnnotationAssertion( "ORDO:101008"^^xsd:string) AnnotationAssertion( "SPG28"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 28"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110779"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16130112"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609727"^^xsd:string) AnnotationAssertion( "RDO:0002576"^^xsd:string) AnnotationAssertion( "GARD:9729"^^xsd:string) AnnotationAssertion( "MESH:C536863"^^xsd:string) AnnotationAssertion( "ORDO:101009"^^xsd:string) AnnotationAssertion( "SPG29"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110780"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31488895/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21487076"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:101010"^^xsd:string) AnnotationAssertion( "SPG30"^^xsd:string) AnnotationAssertion( "autosomal spastic paraplegia type 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110781"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16826527"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610250"^^xsd:string) AnnotationAssertion( "GARD:10817"^^xsd:string) AnnotationAssertion( "MESH:C565210"^^xsd:string) AnnotationAssertion( "ORDO:101011"^^xsd:string) AnnotationAssertion( "SPG31"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 31"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110782"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 31"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 32) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17515546"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611252"^^xsd:string) AnnotationAssertion( "GARD:12749"^^xsd:string) AnnotationAssertion( "MESH:C566983"^^xsd:string) AnnotationAssertion( "ORDO:171622"^^xsd:string) AnnotationAssertion( "SPG32"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 32"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110783"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 32"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16826525"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610244"^^xsd:string) AnnotationAssertion( "MESH:C565214"^^xsd:string) AnnotationAssertion( "SPG33"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 33"^^xsd:string) AnnotationAssertion( "SPASTIC TETRAPARESIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110784"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 33"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12210342"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300750"^^xsd:string) AnnotationAssertion( "MESH:C567465"^^xsd:string) AnnotationAssertion( "ORDO:171607"^^xsd:string) AnnotationAssertion( "SPG34"^^xsd:string) AnnotationAssertion( "X-linked spastic paraplegia 34"^^xsd:string) AnnotationAssertion( "X-linked spastic paraplegia type 34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110785"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19068277"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612319"^^xsd:string) AnnotationAssertion( "MESH:C567311"^^xsd:string) AnnotationAssertion( "MESH:C580102"^^xsd:string) AnnotationAssertion( "NCI:C188989"^^xsd:string) AnnotationAssertion( "ORDO:171629"^^xsd:string) AnnotationAssertion( "FAHN"^^xsd:string) AnnotationAssertion( "Fatty Acid Hydroxylase-Associated Neurodegeneration"^^xsd:string) AnnotationAssertion( "SPG35"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 35"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 35, with or without neurodegeneration"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 35"^^xsd:string) AnnotationAssertion( "dysmyelinating leukodystrophy and spastic paraparesis"^^xsd:string) AnnotationAssertion( "dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia"^^xsd:string) AnnotationAssertion( "spastic paraplegia 35"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110786"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19357379"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613096"^^xsd:string) AnnotationAssertion( "RDO:0012081"^^xsd:string) AnnotationAssertion( "MESH:C567930"^^xsd:string) AnnotationAssertion( "ORDO:320365"^^xsd:string) AnnotationAssertion( "Spg36"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 36"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110787"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 36"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17605047"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611945"^^xsd:string) AnnotationAssertion( "RDO:0012082"^^xsd:string) AnnotationAssertion( "MESH:C567931"^^xsd:string) AnnotationAssertion( "ORDO:171612"^^xsd:string) AnnotationAssertion( "SPG37"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 37"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110788"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 37"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18401025"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612335"^^xsd:string) AnnotationAssertion( "RDO:0012009"^^xsd:string) AnnotationAssertion( "MESH:C567349"^^xsd:string) AnnotationAssertion( "ORDO:171617"^^xsd:string) AnnotationAssertion( "SPG38"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 38"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110789"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18313024"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612020"^^xsd:string) AnnotationAssertion( "GARD:4924"^^xsd:string) AnnotationAssertion( "MESH:C567433"^^xsd:string) AnnotationAssertion( "ORDO:139480"^^xsd:string) AnnotationAssertion( "NTE-related motor neuron disorder"^^xsd:string) AnnotationAssertion( "NTEMND"^^xsd:string) AnnotationAssertion( "SPG39"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 39"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 39"^^xsd:string) AnnotationAssertion( "spastic paraplegia 39"^^xsd:string) AnnotationAssertion( "spastic paraplegia due to NTE mutation"^^xsd:string) AnnotationAssertion( "spastic paraplegia due to neuropathy target esterase mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110790"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 39"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11685207"^^xsd:string) "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182600"^^xsd:string) AnnotationAssertion( "GARD:5041"^^xsd:string) AnnotationAssertion( "MESH:C536864"^^xsd:string) AnnotationAssertion( "NCI:C142893"^^xsd:string) AnnotationAssertion( "ORDO:100984"^^xsd:string) AnnotationAssertion( "FSP1"^^xsd:string) AnnotationAssertion( "SPG3"^^xsd:string) AnnotationAssertion( "SPG3A"^^xsd:string) AnnotationAssertion( "Strumpell disease"^^xsd:string) AnnotationAssertion( "autosomal dominant familial spastic paraplegia 1"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 3"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 3"^^xsd:string) AnnotationAssertion( "spastic paraplegia 3"^^xsd:string) AnnotationAssertion( "spastic paraplegia 3A"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110791"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9302257"^^xsd:string) "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182601"^^xsd:string) AnnotationAssertion( "MESH:C536865"^^xsd:string) AnnotationAssertion( "MESH:C580456"^^xsd:string) AnnotationAssertion( "NCI:C129981"^^xsd:string) AnnotationAssertion( "ORDO:100985"^^xsd:string) AnnotationAssertion( "FSP2"^^xsd:string) AnnotationAssertion( "SPG4"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 4"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 4"^^xsd:string) AnnotationAssertion( "familial spastic paraplegia autosomal dominant 2"^^xsd:string) AnnotationAssertion( "spastic paraplegia 4"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "spastic paraplegia 4, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0110792"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18364116"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009824"^^xsd:string) AnnotationAssertion( "MIM:613364"^^xsd:string) AnnotationAssertion( "ORDO:320355"^^xsd:string) AnnotationAssertion( "SPG41"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 41"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110793"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19061983"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612539"^^xsd:string) AnnotationAssertion( "MESH:C567262"^^xsd:string) AnnotationAssertion( "ORDO:171863"^^xsd:string) AnnotationAssertion( "SPG42"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 42"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110794"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23857908"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001077"^^xsd:string) AnnotationAssertion( "MIM:615043"^^xsd:string) AnnotationAssertion( "ORDO:320370"^^xsd:string) AnnotationAssertion( "SPG43"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 43"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110795"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 43"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19056803"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613206"^^xsd:string) AnnotationAssertion( "MESH:C567707"^^xsd:string) AnnotationAssertion( "MONDO:0013179"^^xsd:string) AnnotationAssertion( "ORDO:320401"^^xsd:string) AnnotationAssertion( "SPG44"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 44"^^xsd:string) AnnotationAssertion( "spastic paraplegia 44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110796"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 45) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613162"^^xsd:string) AnnotationAssertion( "ORDO:320396"^^xsd:string) AnnotationAssertion( "SPG45"^^xsd:string) AnnotationAssertion( "SPG65"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 45"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 45"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110797"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 46) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23332916"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614409"^^xsd:string) AnnotationAssertion( "ORDO:320391"^^xsd:string) AnnotationAssertion( "SPG46"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 46"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110798"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 46"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 47) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22290197"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614066"^^xsd:string) AnnotationAssertion( "ORDO:280763"^^xsd:string) AnnotationAssertion( "AP4-RELATED INTELLECTUAL DISABILITY AND SPASTIC PARAPLEGIA"^^xsd:string) AnnotationAssertion( "CPSQ5"^^xsd:string) AnnotationAssertion( "SPG47"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 47"^^xsd:string) AnnotationAssertion( "spastic quadriplegic cerebral palsy 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110799"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 47"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20613862"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613647"^^xsd:string) AnnotationAssertion( "ORDO:306511"^^xsd:string) AnnotationAssertion( "SPG48"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 48"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 48"^^xsd:string) AnnotationAssertion( "spastic paraplegia 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110800"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 48"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 49) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23176824"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001975"^^xsd:string) AnnotationAssertion( "MIM:615031"^^xsd:string) AnnotationAssertion( "ORDO:320385"^^xsd:string) AnnotationAssertion( "HSAN9"^^xsd:string) AnnotationAssertion( "INHERITED SPASTIC PARESIS"^^xsd:string) AnnotationAssertion( "SPG49"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 49"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 49"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type IX, with developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110801"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 49"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 50) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK535153/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19559397"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612936"^^xsd:string) AnnotationAssertion( "MESH:C567858"^^xsd:string) AnnotationAssertion( "AP-4 deficiency syndrome"^^xsd:string) AnnotationAssertion( "AP-4-associated hereditary spastic paraplegia"^^xsd:string) AnnotationAssertion( "SPG50"^^xsd:string) AnnotationAssertion( "adaptor protein complex 4 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110802"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 50"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 51) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20972249"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "AP4E1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:10999"^^xsd:string) AnnotationAssertion( "MIM:613744"^^xsd:string) AnnotationAssertion( "CPSQ4"^^xsd:string) AnnotationAssertion( "SPG51"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 51"^^xsd:string) AnnotationAssertion( "spastic quadriplegic cerebral palsy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110803"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 51"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 52) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21620353"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614067"^^xsd:string) AnnotationAssertion( "CPSQ6"^^xsd:string) AnnotationAssertion( "Cerebral Palsy, Spastic Quadriplegic, 6"^^xsd:string) AnnotationAssertion( "SPG52"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110804"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 52"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 53) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22717650"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001082"^^xsd:string) AnnotationAssertion( "MIM:614898"^^xsd:string) AnnotationAssertion( "ORDO:319199"^^xsd:string) AnnotationAssertion( "SPG53"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 53"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110805"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 54) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23176823"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001083"^^xsd:string) AnnotationAssertion( "MIM:615033"^^xsd:string) AnnotationAssertion( "ORDO:320380"^^xsd:string) AnnotationAssertion( "SPG54"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 54"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110806"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 54"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 55) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23188110"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615035"^^xsd:string) AnnotationAssertion( "ORDO:320375"^^xsd:string) AnnotationAssertion( "SPG55"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 55"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110807"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 55"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 56) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23176821"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615030"^^xsd:string) AnnotationAssertion( "ORDO:320411"^^xsd:string) AnnotationAssertion( "SPG56"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 56"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 56"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia-56 with or without pseudoxanthoma elasticum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110808"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 56"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 57) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23479643"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009017"^^xsd:string) AnnotationAssertion( "MIM:615658"^^xsd:string) AnnotationAssertion( "ORDO:431329"^^xsd:string) AnnotationAssertion( "SPG57"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 57"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110809"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 57"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 5A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252231"^^xsd:string) "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270800"^^xsd:string) AnnotationAssertion( "GARD:4926"^^xsd:string) AnnotationAssertion( "MESH:C536871"^^xsd:string) AnnotationAssertion( "MESH:C564811"^^xsd:string) AnnotationAssertion( "MONDO:0010047"^^xsd:string) AnnotationAssertion( "ORDO:100986"^^xsd:string) AnnotationAssertion( "SPG5A"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 5A"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 5A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110810"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 5A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14508710"^^xsd:string) "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600363"^^xsd:string) AnnotationAssertion( "ICD10CM:G11.4"^^xsd:string) AnnotationAssertion( "MESH:C536866"^^xsd:string) AnnotationAssertion( "ORDO:100988"^^xsd:string) AnnotationAssertion( "FSP3"^^xsd:string) AnnotationAssertion( "NIPA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPG6"^^xsd:string) AnnotationAssertion( "autosomal dominant familial spastic paraplegia type 3"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 6"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 6"^^xsd:string) AnnotationAssertion( "familial spastic paraplegia, autosomal dominant 3"^^xsd:string) AnnotationAssertion( "spastic paraplegia 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110811"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 61) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615685"^^xsd:string) AnnotationAssertion( "ORDO:401780"^^xsd:string) AnnotationAssertion( "SPG61"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 61"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 61"^^xsd:string) AnnotationAssertion( "spastic paraplegia-61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110812"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 61"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 62) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615681"^^xsd:string) AnnotationAssertion( "ORDO:401785"^^xsd:string) AnnotationAssertion( "SPG62"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 62"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 62"^^xsd:string) AnnotationAssertion( "spastic paraplegia-62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110813"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 62"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 63) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615686"^^xsd:string) AnnotationAssertion( "ORDO:401805"^^xsd:string) AnnotationAssertion( "SPG63"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 63"^^xsd:string) AnnotationAssertion( "spastic paraplegia 63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110814"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 63"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 64) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000756"^^xsd:string) AnnotationAssertion( "MIM:615683"^^xsd:string) AnnotationAssertion( "ORDO:401810"^^xsd:string) AnnotationAssertion( "SPG64"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 64"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110815"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 64"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9635427"^^xsd:string) "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607259"^^xsd:string) AnnotationAssertion( "MESH:C564599"^^xsd:string) AnnotationAssertion( "MESH:C580457"^^xsd:string) AnnotationAssertion( "NCI:C181657"^^xsd:string) AnnotationAssertion( "ORDO:99013"^^xsd:string) AnnotationAssertion( "SPG7"^^xsd:string) AnnotationAssertion( "SPG7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 7"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia, paraplegin type"^^xsd:string) AnnotationAssertion( "spastic paraplegia 7"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110816"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 72A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24388663"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:620606"^^xsd:string) AnnotationAssertion( "MIM:615625"^^xsd:string) AnnotationAssertion( "ORDO:401849"^^xsd:string) AnnotationAssertion( "SPG72"^^xsd:string) AnnotationAssertion( "autosomal spastic paraplegia type 72"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegia 72"^^xsd:string) AnnotationAssertion( "spastic paraplegia 72, autosomal dominant"^^xsd:string) AnnotationAssertion( "spastic paraplegia 72, autosomal recessive"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 72"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SPG72B"^^xsd:string) AnnotationAssertion( "spastic paraplegia 72B, autosomal recessive"^^xsd:string) AnnotationAssertion( "DOID:0110817"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 72A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 73) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25751282"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001558"^^xsd:string) AnnotationAssertion( "MIM:616282"^^xsd:string) AnnotationAssertion( "ORDO:444099"^^xsd:string) AnnotationAssertion( "SPG73"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 73"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110818"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 73"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 74) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25609768"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616451"^^xsd:string) AnnotationAssertion( "ORDO:468661"^^xsd:string) AnnotationAssertion( "SPG74"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110819"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 74"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 75) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24482476"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009018"^^xsd:string) AnnotationAssertion( "MIM:616680"^^xsd:string) AnnotationAssertion( "ORDO:459056"^^xsd:string) AnnotationAssertion( "SPG75"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 75"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia type 75"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110820"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 75"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 76) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27153400"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001820"^^xsd:string) AnnotationAssertion( "RDO:9000338"^^xsd:string) AnnotationAssertion( "EFO:0009019"^^xsd:string) AnnotationAssertion( "MIM:616907"^^xsd:string) AnnotationAssertion( "NCI:C157150"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76"^^xsd:string) AnnotationAssertion( "SPG76"^^xsd:string) AnnotationAssertion( "autosomal recessive hereditary spastic paraplegia-76"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 76"^^xsd:string) AnnotationAssertion( "spastic paraplegia-76"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, CAPN1-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110821"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 76"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 77) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26553276"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617046"^^xsd:string) AnnotationAssertion( "ORDO:466722"^^xsd:string) AnnotationAssertion( "SPG77"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110822"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 77"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17160902"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603563"^^xsd:string) AnnotationAssertion( "RDO:0002580"^^xsd:string) AnnotationAssertion( "RDO:0015929"^^xsd:string) AnnotationAssertion( "WASHC5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9591"^^xsd:string) AnnotationAssertion( "MESH:C580458"^^xsd:string) AnnotationAssertion( "ORDO:100989"^^xsd:string) AnnotationAssertion( "SPG8"^^xsd:string) AnnotationAssertion( "Spastic Paraplegia 8"^^xsd:string) AnnotationAssertion( "Spg 8"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 8"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia type 8"^^xsd:string) AnnotationAssertion( "spastic paraplegia type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110823"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 9A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26026163"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601162"^^xsd:string) AnnotationAssertion( "MESH:C536868"^^xsd:string) AnnotationAssertion( "ORDO:100990"^^xsd:string) AnnotationAssertion( "ORDO:447753"^^xsd:string) AnnotationAssertion( "AD-SPG9A"^^xsd:string) AnnotationAssertion( "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome"^^xsd:string) AnnotationAssertion( "SPG9A"^^xsd:string) AnnotationAssertion( "autosomal dominant complex spastic paraplegia type 9A"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraparesis"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 9A"^^xsd:string) AnnotationAssertion( "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy"^^xsd:string) AnnotationAssertion( "cataracts with motor neuronopathy, short stature, and skeletal abnormalities"^^xsd:string) AnnotationAssertion( "cataracts, motor neuronopathy, short stature and skeletal abnormalities"^^xsd:string) AnnotationAssertion( "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux"^^xsd:string) AnnotationAssertion( "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux"^^xsd:string) AnnotationAssertion( "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110824"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 9A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 9B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26026163"^^xsd:string) "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001562"^^xsd:string) AnnotationAssertion( "MIM:616586"^^xsd:string) AnnotationAssertion( "ORDO:447760"^^xsd:string) AnnotationAssertion( "SPG9B"^^xsd:string) AnnotationAssertion( "autosomal recessive complex spastic paraplegia type 9B"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 9B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110825"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 9B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome type 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1265/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string) "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C126327"^^xsd:string) AnnotationAssertion( "ORDO:231169"^^xsd:string) AnnotationAssertion( "US1"^^xsd:string) AnnotationAssertion( "USH1"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110826"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1341/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9624053"^^xsd:string) "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C126328"^^xsd:string) AnnotationAssertion( "ORDO:231178"^^xsd:string) AnnotationAssertion( "USH2"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110827"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 2"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 3) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/usher-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2909824"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8864816"^^xsd:string) "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5442"^^xsd:string) AnnotationAssertion( "USH3"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110828"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 3"^^xsd:string) SubClassOf( ) # Class: (retinitis pigmentosa-deafness syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10090882"^^xsd:string) "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:4684"^^xsd:string) AnnotationAssertion( "MIM:500004"^^xsd:string) AnnotationAssertion( "NCI:C126329"^^xsd:string) AnnotationAssertion( "ORDO:231183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS"^^xsd:string) AnnotationAssertion( "RP21"^^xsd:string) AnnotationAssertion( "RP8"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 21"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 8"^^xsd:string) AnnotationAssertion( "DOID:0110829"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa-deafness syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome type 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10973247"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:276904"^^xsd:string) AnnotationAssertion( "MESH:C536486"^^xsd:string) AnnotationAssertion( "MESH:C564753"^^xsd:string) AnnotationAssertion( "USH1C"^^xsd:string) AnnotationAssertion( "Usher syndrome type I Acadian variety"^^xsd:string) AnnotationAssertion( "Usher syndrome type IC"^^xsd:string) AnnotationAssertion( "Usher syndrome, Acadian variety"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110830"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1C"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11138009"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536487"^^xsd:string) AnnotationAssertion( "MESH:C563400"^^xsd:string) AnnotationAssertion( "MIM:601067"^^xsd:string) AnnotationAssertion( "MONDO:0010984"^^xsd:string) AnnotationAssertion( "USH1D"^^xsd:string) AnnotationAssertion( "Usher syndrome, type ID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110831"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome type 1F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11398101"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602083"^^xsd:string) AnnotationAssertion( "RDO:0011990"^^xsd:string) AnnotationAssertion( "MESH:C536489"^^xsd:string) AnnotationAssertion( "MESH:C566586"^^xsd:string) AnnotationAssertion( "RDO:0002091"^^xsd:string) AnnotationAssertion( "USH1F"^^xsd:string) AnnotationAssertion( "Usher syndrome type IF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110832"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1F"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9002666"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602097"^^xsd:string) AnnotationAssertion( "RDO:0011989"^^xsd:string) AnnotationAssertion( "MESH:C536488"^^xsd:string) AnnotationAssertion( "MESH:C566577"^^xsd:string) AnnotationAssertion( "RDO:0002090"^^xsd:string) AnnotationAssertion( "USH1E"^^xsd:string) AnnotationAssertion( "USHER SYNDROME, TYPE IE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110833"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1E"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12588794"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606943"^^xsd:string) AnnotationAssertion( "MESH:C564643"^^xsd:string) AnnotationAssertion( "RDO:0011956"^^xsd:string) AnnotationAssertion( "USH1G"^^xsd:string) AnnotationAssertion( "USH1G-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USH1G-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "USH1G-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "Usher syndrome type IG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110834"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1G"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18505454"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612632"^^xsd:string) AnnotationAssertion( "MESH:C567227"^^xsd:string) AnnotationAssertion( "RDO:0012007"^^xsd:string) AnnotationAssertion( "USH1H"^^xsd:string) AnnotationAssertion( "Usher syndrome type IH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110835"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1H"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23023331"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0012127"^^xsd:string) AnnotationAssertion( "MIM:614869"^^xsd:string) AnnotationAssertion( "USH1J"^^xsd:string) AnnotationAssertion( "Usher syndrome 1J"^^xsd:string) AnnotationAssertion( "Usher syndrome type IJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110836"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1J"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 1K) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22718019"^^xsd:string) "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004229"^^xsd:string) AnnotationAssertion( "MIM:614990"^^xsd:string) AnnotationAssertion( "USH1K"^^xsd:string) AnnotationAssertion( "Usher syndrome type IK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110837"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 1K"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9624053"^^xsd:string) "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "MIM:276901"^^xsd:string) AnnotationAssertion( "USH2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USH2A-related disorder"^^xsd:string) AnnotationAssertion( "GARD:5440"^^xsd:string) AnnotationAssertion( "MESH:C536490"^^xsd:string) AnnotationAssertion( "USH2A"^^xsd:string) AnnotationAssertion( "Usher syndrome, type IIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110838"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 2A"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14740321"^^xsd:string) "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605472"^^xsd:string) AnnotationAssertion( "ADGRV1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADGRV1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C536492"^^xsd:string) AnnotationAssertion( "NCI:C153174"^^xsd:string) AnnotationAssertion( "USH2C"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type IIC"^^xsd:string) AnnotationAssertion( "Usher syndrome IIC"^^xsd:string) AnnotationAssertion( "USH2B"^^xsd:string) AnnotationAssertion( "Usher Syndrome Type 2c, GPR98/PDZD Digenic"^^xsd:string) AnnotationAssertion( "Usher syndrome, Type IIC, GPR98/PDZD7 digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110839"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 2C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher syndrome type 2D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17171570"^^xsd:string) "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611383"^^xsd:string) AnnotationAssertion( "MONDO:0012662"^^xsd:string) AnnotationAssertion( "USH2D"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type IID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110840"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 2D"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 3A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11524702"^^xsd:string) "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008520"^^xsd:string) AnnotationAssertion( "MIM:276902"^^xsd:string) AnnotationAssertion( "USH3A"^^xsd:string) AnnotationAssertion( "Usher syndrome type IIIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110841"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 3A"^^xsd:string) SubClassOf( ) # Class: (Usher syndrome type 3B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22279524"^^xsd:string) "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000848"^^xsd:string) AnnotationAssertion( "MIM:614504"^^xsd:string) AnnotationAssertion( "USH3B"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type IIIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110842"^^xsd:string) AnnotationAssertion(rdfs:label "Usher syndrome type 3B"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2168777"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2234061"^^xsd:string) "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003067"^^xsd:string) AnnotationAssertion( "MIM:278700"^^xsd:string) AnnotationAssertion( "NCI:C3965"^^xsd:string) AnnotationAssertion( "XP group A"^^xsd:string) AnnotationAssertion( "XP1"^^xsd:string) AnnotationAssertion( "XPA"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum 1"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum I"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum complementation group A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110843"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group A"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6696469"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8298653"^^xsd:string) "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278720"^^xsd:string) AnnotationAssertion( "MESH:C567886"^^xsd:string) AnnotationAssertion( "NCI:C114770"^^xsd:string) AnnotationAssertion( "XP group C"^^xsd:string) AnnotationAssertion( "XP3"^^xsd:string) AnnotationAssertion( "XPC"^^xsd:string) AnnotationAssertion( "XPCC"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum, Complementation Group C"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110844"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group C"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7849702"^^xsd:string) "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278730"^^xsd:string) AnnotationAssertion( "RDO:0012239"^^xsd:string) AnnotationAssertion( "MESH:C562591"^^xsd:string) AnnotationAssertion( "XP, Group D"^^xsd:string) AnnotationAssertion( "XP, group H"^^xsd:string) AnnotationAssertion( "XP4"^^xsd:string) AnnotationAssertion( "XP4 XERODERMA PIGMENTOSUM VIII"^^xsd:string) AnnotationAssertion( "XP8"^^xsd:string) AnnotationAssertion( "XPD"^^xsd:string) AnnotationAssertion( "XPDC"^^xsd:string) AnnotationAssertion( "XPH"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum IV"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110845"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group D"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3339259"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8798680"^^xsd:string) "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278740"^^xsd:string) AnnotationAssertion( "MESH:C564732"^^xsd:string) AnnotationAssertion( "NCI:C114771"^^xsd:string) AnnotationAssertion( "RDO:0013595"^^xsd:string) AnnotationAssertion( "XP, Group E"^^xsd:string) AnnotationAssertion( "XP5"^^xsd:string) AnnotationAssertion( "XPE"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum V"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum, Complementation Group E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110846"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group E"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum variant type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10385124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1054497"^^xsd:string) "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278750"^^xsd:string) AnnotationAssertion( "GARD:5630"^^xsd:string) AnnotationAssertion( "MESH:C536766"^^xsd:string) AnnotationAssertion( "NCI:C141367"^^xsd:string) AnnotationAssertion( "RDO:0002449"^^xsd:string) AnnotationAssertion( "Photosensitivity with defective DNA synthesis"^^xsd:string) AnnotationAssertion( "XPV"^^xsd:string) AnnotationAssertion( "Xeroderma pigmentosum with normal DNA repair rates"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110847"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum variant type"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23623389"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8797827"^^xsd:string) "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278760"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.1"^^xsd:string) AnnotationAssertion( "MESH:C562592"^^xsd:string) AnnotationAssertion( "NCI:C3968"^^xsd:string) AnnotationAssertion( "RDO:0012240"^^xsd:string) AnnotationAssertion( "XERODERMA PIGMENTOSUM VI"^^xsd:string) AnnotationAssertion( "XERODERMA PIGMENTOSUM, TYPE F"^^xsd:string) AnnotationAssertion( "XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME"^^xsd:string) AnnotationAssertion( "XP, Group F"^^xsd:string) AnnotationAssertion( "XP6"^^xsd:string) AnnotationAssertion( "XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME"^^xsd:string) AnnotationAssertion( "XPF"^^xsd:string) AnnotationAssertion( "XPF/CS"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum, Complementation Group F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110848"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group F"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11841555"^^xsd:string) "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278780"^^xsd:string) AnnotationAssertion( "MESH:C562593"^^xsd:string) AnnotationAssertion( "NCI:C3969"^^xsd:string) AnnotationAssertion( "XP, group G"^^xsd:string) AnnotationAssertion( "XP7"^^xsd:string) AnnotationAssertion( "XPG"^^xsd:string) AnnotationAssertion( "XPGC"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum, complementation group G"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum VII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110849"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group G"^^xsd:string) SubClassOf( ) # Class: (xeroderma pigmentosum group B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16947863"^^xsd:string) "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610651"^^xsd:string) AnnotationAssertion( "RDO:0012238"^^xsd:string) AnnotationAssertion( "MESH:C562590"^^xsd:string) AnnotationAssertion( "NCI:C3966"^^xsd:string) AnnotationAssertion( "XPB"^^xsd:string) AnnotationAssertion( "XPBC"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum, complementation group B"^^xsd:string) AnnotationAssertion( "XP, GROUP B"^^xsd:string) AnnotationAssertion( "XPB/CS"^^xsd:string) AnnotationAssertion( "XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110850"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma pigmentosum group B"^^xsd:string) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctata type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15679822"^^xsd:string) "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215100"^^xsd:string) AnnotationAssertion( "RDO:0000077"^^xsd:string) AnnotationAssertion( "GARD:6049"^^xsd:string) AnnotationAssertion( "MESH:C531651"^^xsd:string) AnnotationAssertion( "ORDO:309789"^^xsd:string) AnnotationAssertion( "CDPR"^^xsd:string) AnnotationAssertion( "Chondrodystrophia calcificans punctata"^^xsd:string) AnnotationAssertion( "PBD9"^^xsd:string) AnnotationAssertion( "PEROXISOME BIOGENESIS DISORDER 9"^^xsd:string) AnnotationAssertion( "RCDP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110851"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctata type 1"^^xsd:string) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctata type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1405476"^^xsd:string) "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222765"^^xsd:string) AnnotationAssertion( "MESH:C537607"^^xsd:string) AnnotationAssertion( "ORDO:309796"^^xsd:string) AnnotationAssertion( "RDO:0003477"^^xsd:string) AnnotationAssertion( "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency"^^xsd:string) AnnotationAssertion( "DHAPAT deficiency"^^xsd:string) AnnotationAssertion( "Dihydroxyacetonephosphate acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "GNPAT deficiency"^^xsd:string) AnnotationAssertion( "GNPAT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Glyceronephosphate O-Acyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Glyceronephosphate acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "Human dihydroxyacetonephosphate acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "RCDP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110852"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctata type 2"^^xsd:string) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctata type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22871920"^^xsd:string) "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600121"^^xsd:string) AnnotationAssertion( "MESH:C537608"^^xsd:string) AnnotationAssertion( "ORDO:309803"^^xsd:string) AnnotationAssertion( "AGPS deficiency"^^xsd:string) AnnotationAssertion( "RCDP3"^^xsd:string) AnnotationAssertion( "alkyldihydroxyacetonephosphate synthase deficiency"^^xsd:string) AnnotationAssertion( "alkylglycerone-phosphate synthase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110853"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctata type 3"^^xsd:string) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctata type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26220973"^^xsd:string) "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616716"^^xsd:string) AnnotationAssertion( "ORDO:468717"^^xsd:string) AnnotationAssertion( "RDO:9000772"^^xsd:string) AnnotationAssertion( "RCDP5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110854"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctata type 5"^^xsd:string) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26749309"^^xsd:string) "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565156"^^xsd:string) AnnotationAssertion( "MIM:122000"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.50"^^xsd:string) AnnotationAssertion( "MESH:C562745"^^xsd:string) AnnotationAssertion( "CHED1"^^xsd:string) AnnotationAssertion( "Maumenee corneal dystrophy"^^xsd:string) AnnotationAssertion( "PPCD1"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 1"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "hereditary polymorphous posterior corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110855"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11689488"^^xsd:string) "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609140"^^xsd:string) AnnotationAssertion( "MESH:C565176"^^xsd:string) AnnotationAssertion( "PPCD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110856"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior polymorphous corneal dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16252232"^^xsd:string) "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609141"^^xsd:string) AnnotationAssertion( "MESH:C563788"^^xsd:string) AnnotationAssertion( "PPCD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110857"^^xsd:string) AnnotationAssertion(rdfs:label "posterior polymorphous corneal dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic kidney disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9650770"^^xsd:string) "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C536326"^^xsd:string) AnnotationAssertion( "MESH:C566792"^^xsd:string) AnnotationAssertion( "MIM:173900"^^xsd:string) AnnotationAssertion( "APKD1"^^xsd:string) AnnotationAssertion( "PKD1"^^xsd:string) AnnotationAssertion( "PKD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Potter type III polycystic kidney disease"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease type 1"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease, type I"^^xsd:string) AnnotationAssertion( "polycystic kidney disease type 1"^^xsd:string) AnnotationAssertion( "polycystic kidney type 1, autosomal dominant disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110858"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 1"^^xsd:string) SubClassOf( ) # Class: (polycystic kidney disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7825585"^^xsd:string) "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613095"^^xsd:string) AnnotationAssertion( "APKD2"^^xsd:string) AnnotationAssertion( "PKD2"^^xsd:string) AnnotationAssertion( "PKD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease type 2"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease, type II"^^xsd:string) AnnotationAssertion( "polycystic kidney disease, type 2"^^xsd:string) AnnotationAssertion( "polycystic kidney, type 2 autosomal dominant disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110859"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 2"^^xsd:string) SubClassOf( ) # Class: (polycystic kidney disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27259053"^^xsd:string) "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:600666"^^xsd:string) AnnotationAssertion( "APKD3"^^xsd:string) AnnotationAssertion( "PKD3"^^xsd:string) AnnotationAssertion( "POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease, type 3"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease, type III"^^xsd:string) AnnotationAssertion( "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110860"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic kidney disease 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive polycystic kidney disease) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease"^^xsd:string) "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8378"^^xsd:string) AnnotationAssertion( "ICD10CM:Q61.1"^^xsd:string) AnnotationAssertion( "ICD9CM:753.14"^^xsd:string) AnnotationAssertion( "MESH:D017044"^^xsd:string) AnnotationAssertion( "NCI:C84579"^^xsd:string) AnnotationAssertion( "ORDO:731"^^xsd:string) AnnotationAssertion( "ARPKD"^^xsd:string) AnnotationAssertion( "Polycystic Kidney Disease, Infantile, Type I"^^xsd:string) AnnotationAssertion( "autosomal recessive polycystic kidney"^^xsd:string) AnnotationAssertion( "congenital hepatic fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110861"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive polycystic kidney disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness autosomal dominant 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7846071"^^xsd:string) "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610445"^^xsd:string) AnnotationAssertion( "MESH:C566474"^^xsd:string) AnnotationAssertion( "CSNBAD1"^^xsd:string) AnnotationAssertion( "rhodopsin-related congenital stationary night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110862"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness autosomal dominant 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness autosomal dominant 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8075643"^^xsd:string) "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:163500"^^xsd:string) AnnotationAssertion( "PDE6B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PDE6B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566869"^^xsd:string) AnnotationAssertion( "MONDO:0008099"^^xsd:string) AnnotationAssertion( "CSNBAD2"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, Rambusch type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110863"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness autosomal dominant 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23246293"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615058"^^xsd:string) AnnotationAssertion( "CSNB1F"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1F autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110864"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15781871"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008418"^^xsd:string) AnnotationAssertion( "MIM:257270"^^xsd:string) AnnotationAssertion( "CSNB, COMPLETE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CSNB1B"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1B autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110865"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1H) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27063057"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617024"^^xsd:string) AnnotationAssertion( "CSNB1H"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness type 1H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110866"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1H"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19878917"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613216"^^xsd:string) AnnotationAssertion( "RDO:0009789"^^xsd:string) AnnotationAssertion( "RDO:0015700"^^xsd:string) AnnotationAssertion( "MESH:C567704"^^xsd:string) AnnotationAssertion( "CSNB, complete, autosomal recessive"^^xsd:string) AnnotationAssertion( "CSNB1C"^^xsd:string) AnnotationAssertion( "TRPM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1C autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110867"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20850105"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000617"^^xsd:string) AnnotationAssertion( "MIM:613830"^^xsd:string) AnnotationAssertion( "CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D"^^xsd:string) AnnotationAssertion( "CSNB, COMPLETE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CSNB1D"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1D autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110868"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22325361"^^xsd:string) "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000618"^^xsd:string) AnnotationAssertion( "MIM:614565"^^xsd:string) AnnotationAssertion( "CSNB, COMPLETE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CSNB1E"^^xsd:string) AnnotationAssertion( "GPR179-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1E autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110869"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9662400"^^xsd:string) "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008703"^^xsd:string) AnnotationAssertion( "NYX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:310500"^^xsd:string) AnnotationAssertion( "CSNB, complete, X-linked"^^xsd:string) AnnotationAssertion( "CSNB1A"^^xsd:string) AnnotationAssertion( "NBMI"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 1A, X-linked"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1A"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, with myopia"^^xsd:string) AnnotationAssertion( "myopia-night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110870"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital stationary night blindness 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9662399"^^xsd:string) "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0008547"^^xsd:string) AnnotationAssertion( "MIM:300071"^^xsd:string) AnnotationAssertion( "CSNB, incomplete, X-linked"^^xsd:string) AnnotationAssertion( "CSNB2"^^xsd:string) AnnotationAssertion( "CSNB2A"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness 2A, X-linked"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness type 2A"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 2"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness type 2A, severe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110871"^^xsd:string) AnnotationAssertion(rdfs:label "congenital stationary night blindness 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10369266"^^xsd:string) "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:157170"^^xsd:string) AnnotationAssertion( "MESH:C563579"^^xsd:string) AnnotationAssertion( "HPE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110872"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14581620"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610829"^^xsd:string) AnnotationAssertion( "GLI2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GLI2-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C563659"^^xsd:string) AnnotationAssertion( "HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES"^^xsd:string) AnnotationAssertion( "HPE9"^^xsd:string) AnnotationAssertion( "Pituitary Anomalies with Holoprosencephaly-Like Features"^^xsd:string) AnnotationAssertion( "CEREBELLAR CYST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110873"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11343300"^^xsd:string) "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605934"^^xsd:string) AnnotationAssertion( "MESH:C565274"^^xsd:string) AnnotationAssertion( "HPE6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110874"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 6"^^xsd:string) SubClassOf( ) # Class: (holoprosencephaly 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8896572"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142945"^^xsd:string) AnnotationAssertion( "MESH:C564181"^^xsd:string) AnnotationAssertion( "HLP3"^^xsd:string) AnnotationAssertion( "HPE3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110875"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11941477"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610828"^^xsd:string) AnnotationAssertion( "MESH:C563660"^^xsd:string) AnnotationAssertion( "HPE7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110876"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21802063"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614226"^^xsd:string) AnnotationAssertion( "CDON-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPE11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110877"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9771712"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609637"^^xsd:string) AnnotationAssertion( "MESH:C566464"^^xsd:string) AnnotationAssertion( "HPE5"^^xsd:string) AnnotationAssertion( "ZIC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110878"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15820313"^^xsd:string) "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609408"^^xsd:string) AnnotationAssertion( "MESH:C563723"^^xsd:string) AnnotationAssertion( "HPE8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110879"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 8"^^xsd:string) SubClassOf( ) # Class: (holoprosencephaly 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10835638"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16323008"^^xsd:string) "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142946"^^xsd:string) AnnotationAssertion( "MESH:C564180"^^xsd:string) AnnotationAssertion( "HPE4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110880"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7485157"^^xsd:string) "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236100"^^xsd:string) AnnotationAssertion( "MESH:C562573"^^xsd:string) AnnotationAssertion( "HPE1"^^xsd:string) AnnotationAssertion( "cyclopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110881"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19122664"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605225"^^xsd:string) AnnotationAssertion( "MESH:C565353"^^xsd:string) AnnotationAssertion( "IBD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110882"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17068223"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612261"^^xsd:string) AnnotationAssertion( "IL23R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567378"^^xsd:string) AnnotationAssertion( "IBD17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease 17, protection against"^^xsd:string) AnnotationAssertion( "DOID:0110883"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15937090"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18587394"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612381"^^xsd:string) AnnotationAssertion( "MESH:C567326"^^xsd:string) AnnotationAssertion( "IBD23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110884"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18852889"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611081"^^xsd:string) AnnotationAssertion( "MESH:C567021"^^xsd:string) AnnotationAssertion( "IBD10"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease (Crohn disease) 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease 10, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110885"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12354785"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608448"^^xsd:string) AnnotationAssertion( "MESH:C563926"^^xsd:string) AnnotationAssertion( "IBD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110886"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17804789"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612241"^^xsd:string) AnnotationAssertion( "MESH:C567388"^^xsd:string) AnnotationAssertion( "IBD12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110887"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17447842"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612262"^^xsd:string) AnnotationAssertion( "MESH:C567377"^^xsd:string) AnnotationAssertion( "IBD18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110888"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11586304"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606348"^^xsd:string) AnnotationAssertion( "MESH:C565234"^^xsd:string) AnnotationAssertion( "IBD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110889"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17554261"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612278"^^xsd:string) AnnotationAssertion( "MESH:C567372"^^xsd:string) AnnotationAssertion( "IBD19"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease (Crohn disease) 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110890"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10577918"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604519"^^xsd:string) AnnotationAssertion( "MESH:C565764"^^xsd:string) AnnotationAssertion( "IBD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110891"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11385576"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0009960"^^xsd:string) AnnotationAssertion( "IBD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110892"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14610718"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612244"^^xsd:string) AnnotationAssertion( "MESH:C567384"^^xsd:string) AnnotationAssertion( "IBD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110893"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8841195"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:191390"^^xsd:string) AnnotationAssertion( "MESH:C567154"^^xsd:string) AnnotationAssertion( "IBD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110894"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17881657"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612245"^^xsd:string) AnnotationAssertion( "MESH:C567383"^^xsd:string) AnnotationAssertion( "IBD14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "INFLAMMATORY BOWEL DISEASE 14, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:0110895"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18587394"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612259"^^xsd:string) AnnotationAssertion( "MESH:C567380"^^xsd:string) AnnotationAssertion( "IBD16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110896"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18438406"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612255"^^xsd:string) AnnotationAssertion( "MESH:C567381"^^xsd:string) AnnotationAssertion( "IBD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110897"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10053016"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612288"^^xsd:string) AnnotationAssertion( "MESH:C567361"^^xsd:string) AnnotationAssertion( "IBD20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110898"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19890111"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22476154"^^xsd:string) "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613148"^^xsd:string) AnnotationAssertion( "MESH:C567728"^^xsd:string) AnnotationAssertion( "NCI:C164676"^^xsd:string) AnnotationAssertion( "IBD28"^^xsd:string) AnnotationAssertion( "autosomal recessive inflammatory bowel disease 28"^^xsd:string) AnnotationAssertion( "early onset autosomal recessive inflammatory bowel disease 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110899"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8841195"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601458"^^xsd:string) AnnotationAssertion( "MESH:C563310"^^xsd:string) AnnotationAssertion( "IBD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110900"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19122664"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612639"^^xsd:string) AnnotationAssertion( "MESH:C567217"^^xsd:string) AnnotationAssertion( "IBD26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110901"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18246054"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612796"^^xsd:string) AnnotationAssertion( "MESH:C567559"^^xsd:string) AnnotationAssertion( "IBD27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110902"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10747815"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606675"^^xsd:string) AnnotationAssertion( "MESH:C564680"^^xsd:string) AnnotationAssertion( "IBD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110903"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11752413"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606668"^^xsd:string) AnnotationAssertion( "MESH:C564682"^^xsd:string) AnnotationAssertion( "IBD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110904"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18438405"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612380"^^xsd:string) AnnotationAssertion( "MESH:C567327"^^xsd:string) AnnotationAssertion( "IBD22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110905"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17554261"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612354"^^xsd:string) AnnotationAssertion( "MESH:C567338"^^xsd:string) AnnotationAssertion( "IBD21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110906"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10777714"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606674"^^xsd:string) AnnotationAssertion( "MESH:C564681"^^xsd:string) AnnotationAssertion( "IBD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110907"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18758464"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612566"^^xsd:string) AnnotationAssertion( "MESH:C567252"^^xsd:string) AnnotationAssertion( "IBD24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110908"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19890111"^^xsd:string) "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612567"^^xsd:string) AnnotationAssertion( "MESH:C567251"^^xsd:string) AnnotationAssertion( "IBD25"^^xsd:string) AnnotationAssertion( "autosomal recessive inflammatory bowel disease 25"^^xsd:string) AnnotationAssertion( "early onset autosomal recessive inflammatory bowel disease 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110909"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leukocyte adhesion deficiency 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6361068"^^xsd:string) "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:116920"^^xsd:string) AnnotationAssertion( "OMIA:000595"^^xsd:string) AnnotationAssertion( "MESH:C535887"^^xsd:string) AnnotationAssertion( "ORDO:99842"^^xsd:string) AnnotationAssertion( "LAD"^^xsd:string) AnnotationAssertion( "LAD1"^^xsd:string) AnnotationAssertion( "LFA1 immunodeficiency"^^xsd:string) AnnotationAssertion( "leukocyte adhesion deficiency type 1"^^xsd:string) AnnotationAssertion( "leukocyte adhesion deficiency, type I"^^xsd:string) AnnotationAssertion( "lymphocyte function-associated antigen 1 immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110910"^^xsd:string) AnnotationAssertion(rdfs:label "leukocyte adhesion deficiency 1"^^xsd:string) SubClassOf( ) # Class: (leukocyte adhesion deficiency 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19234463"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844"^^xsd:string) "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612840"^^xsd:string) AnnotationAssertion( "OMIA:001525"^^xsd:string) AnnotationAssertion( "MESH:C567555"^^xsd:string) AnnotationAssertion( "ORDO:99844"^^xsd:string) AnnotationAssertion( "IADD"^^xsd:string) AnnotationAssertion( "LAD1 variant"^^xsd:string) AnnotationAssertion( "LAD1V"^^xsd:string) AnnotationAssertion( "LAD3"^^xsd:string) AnnotationAssertion( "integrin activation deficiency disease"^^xsd:string) AnnotationAssertion( "leukocyte adhesion deficiency 1 variant"^^xsd:string) AnnotationAssertion( "leukocyte adhesion deficiency, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110912"^^xsd:string) AnnotationAssertion(rdfs:label "leukocyte adhesion deficiency 3"^^xsd:string) SubClassOf( ) # Class: (adult hypophosphatasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1409720"^^xsd:string) "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146300"^^xsd:string) AnnotationAssertion( "EFO:0021431"^^xsd:string) AnnotationAssertion( "MESH:C562647"^^xsd:string) AnnotationAssertion( "ORDO:247676"^^xsd:string) AnnotationAssertion( "mild hypophosphatasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110913"^^xsd:string) AnnotationAssertion(rdfs:label "adult hypophosphatasia"^^xsd:string) SubClassOf( ) # Class: (infantile hypophosphatasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1689104"^^xsd:string) "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241500"^^xsd:string) AnnotationAssertion( "MESH:C562646"^^xsd:string) AnnotationAssertion( "ORDO:247651"^^xsd:string) AnnotationAssertion( "HOPS"^^xsd:string) AnnotationAssertion( "phosphoethanolaminuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110914"^^xsd:string) AnnotationAssertion(rdfs:label "infantile hypophosphatasia"^^xsd:string) SubClassOf( ) # Class: (childhood hypophosphatasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1409720"^^xsd:string) "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241510"^^xsd:string) AnnotationAssertion( "EFO:0021432"^^xsd:string) AnnotationAssertion( "GARD:8735"^^xsd:string) AnnotationAssertion( "MESH:C562440"^^xsd:string) AnnotationAssertion( "ORDO:247667"^^xsd:string) AnnotationAssertion( "hypophospatasia, childhood"^^xsd:string) AnnotationAssertion( "childhood-onset hypophosphatasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110915"^^xsd:string) AnnotationAssertion(rdfs:label "childhood hypophosphatasia"^^xsd:string) SubClassOf( ) # Class: (hereditary spherocytosis type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2675425"^^xsd:string) "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182900"^^xsd:string) AnnotationAssertion( "MESH:C567159"^^xsd:string) AnnotationAssertion( "ANK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HS1"^^xsd:string) AnnotationAssertion( "SPH"^^xsd:string) AnnotationAssertion( "SPH1"^^xsd:string) AnnotationAssertion( "hereditary spherocytosis 1"^^xsd:string) AnnotationAssertion( "spherocytosis type 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110916"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary spherocytosis type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8102379"^^xsd:string) "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)"^^xsd:string) AnnotationAssertion( "SPTB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616649"^^xsd:string) AnnotationAssertion( "HS2"^^xsd:string) AnnotationAssertion( "SPH2"^^xsd:string) AnnotationAssertion( "Spherocytosis, Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Spectrin durham"^^xsd:string) AnnotationAssertion( "Spectrin kissimmee"^^xsd:string) AnnotationAssertion( "Spectrin s-ta barbara"^^xsd:string) AnnotationAssertion( "hereditary spherocytosis 2"^^xsd:string) AnnotationAssertion( "DOID:0110917"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spherocytosis type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8941647"^^xsd:string) "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270970"^^xsd:string) AnnotationAssertion( "MESH:C567489"^^xsd:string) AnnotationAssertion( "HS3"^^xsd:string) AnnotationAssertion( "SPH3"^^xsd:string) AnnotationAssertion( "hereditary spherocytosis 3"^^xsd:string) AnnotationAssertion( "spherocytosis type 3"^^xsd:string) AnnotationAssertion( "spherocytosis type 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110918"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spherocytosis type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7530501"^^xsd:string) "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612653"^^xsd:string) AnnotationAssertion( "MESH:C567208"^^xsd:string) AnnotationAssertion( "HS4"^^xsd:string) AnnotationAssertion( "SPH4"^^xsd:string) AnnotationAssertion( "hereditary spherocytosis 4"^^xsd:string) AnnotationAssertion( "spherocytosis type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110919"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spherocytosis type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1558976"^^xsd:string) "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612690"^^xsd:string) AnnotationAssertion( "MESH:C567202"^^xsd:string) AnnotationAssertion( "EPB42-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HS5"^^xsd:string) AnnotationAssertion( "SPH5"^^xsd:string) AnnotationAssertion( "hereditary spherocytosis 5"^^xsd:string) AnnotationAssertion( "spherocytosis type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110920"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemophagocytic lymphohistiocytosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9915955"^^xsd:string) "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:267700"^^xsd:string) AnnotationAssertion( "FHL1"^^xsd:string) AnnotationAssertion( "HLH1"^^xsd:string) AnnotationAssertion( "HPLH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110921"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemophagocytic lymphohistiocytosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemophagocytic lymphohistiocytosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10583959"^^xsd:string) "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603553"^^xsd:string) AnnotationAssertion( "GARD:9922"^^xsd:string) AnnotationAssertion( "MESH:C537250"^^xsd:string) AnnotationAssertion( "FHL2"^^xsd:string) AnnotationAssertion( "HLH2"^^xsd:string) AnnotationAssertion( "HPLH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "familial hemophagocytic lymphohistiocytosis 2, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0110922"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemophagocytic lymphohistiocytosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemophagocytic lymphohistiocytosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14622600"^^xsd:string) "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9928"^^xsd:string) AnnotationAssertion( "MESH:C537251"^^xsd:string) AnnotationAssertion( "MIM:608898"^^xsd:string) AnnotationAssertion( "MONDO:0012146"^^xsd:string) AnnotationAssertion( "FHL3"^^xsd:string) AnnotationAssertion( "HLH3"^^xsd:string) AnnotationAssertion( "HPLH3"^^xsd:string) AnnotationAssertion( "UNC13D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110923"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemophagocytic lymphohistiocytosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemophagocytic lymphohistiocytosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15703195"^^xsd:string) "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603552"^^xsd:string) AnnotationAssertion( "GARD:9929"^^xsd:string) AnnotationAssertion( "MESH:C537252"^^xsd:string) AnnotationAssertion( "FHL4"^^xsd:string) AnnotationAssertion( "HLH4"^^xsd:string) AnnotationAssertion( "HPLH4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110924"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemophagocytic lymphohistiocytosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemophagocytic lymphohistiocytosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19804848"^^xsd:string) "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613101"^^xsd:string) AnnotationAssertion( "MESH:C567752"^^xsd:string) AnnotationAssertion( "FHL5"^^xsd:string) AnnotationAssertion( "HLH5"^^xsd:string) AnnotationAssertion( "HPLH5"^^xsd:string) AnnotationAssertion( "STXBP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "familial hemophagocytic lymphohistiocytosis 5 with or without microvillus inclusion disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110925"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemophagocytic lymphohistiocytosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10619715"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24095155"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7704029"^^xsd:string) "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609284"^^xsd:string) AnnotationAssertion( "MESH:C538348"^^xsd:string) AnnotationAssertion( "CMYP4B"^^xsd:string) AnnotationAssertion( "NEM1"^^xsd:string) AnnotationAssertion( "cap myopathy, TPM3-related"^^xsd:string) AnnotationAssertion( "congenital myopathy 4B"^^xsd:string) AnnotationAssertion( "congenital myopathy 4B, autosomal recessive"^^xsd:string) AnnotationAssertion( "nemaline myopathy 1, autosomal dominant or recessive"^^xsd:string) AnnotationAssertion( "nemaline myopathy caused by mutation in the tropomyosin 3 gene"^^xsd:string) AnnotationAssertion( "CAP myopathy 1"^^xsd:string) AnnotationAssertion( "CAPM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110926"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10508519"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11333380"^^xsd:string) "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:161800"^^xsd:string) AnnotationAssertion( "MESH:C538350"^^xsd:string) AnnotationAssertion( "NCI:C129870"^^xsd:string) AnnotationAssertion( "NEM3"^^xsd:string) AnnotationAssertion( "NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS,"^^xsd:string) AnnotationAssertion( "congenital myopathy 2A"^^xsd:string) AnnotationAssertion( "nemaline myopathy 3, autosomal dominant or recessive"^^xsd:string) AnnotationAssertion( "nemaline myopathy caused by mutation in the alpha-actin gene"^^xsd:string) AnnotationAssertion( "CMYP2A"^^xsd:string) AnnotationAssertion( "congenital actin myopathy with cores"^^xsd:string) AnnotationAssertion( "congenital myopathy 2A, severe infantile or typical, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital myopathy 2A, typical, autosomal dominant"^^xsd:string) AnnotationAssertion( "nemaline myopathy 3, with intranuclear rods"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110927"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10051637"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15221447"^^xsd:string) "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256030"^^xsd:string) AnnotationAssertion( "OMIA:002137"^^xsd:string) AnnotationAssertion( "MESH:C538349"^^xsd:string) AnnotationAssertion( "MONDO:0009725"^^xsd:string) AnnotationAssertion( "NCI:C118784"^^xsd:string) AnnotationAssertion( "NEM2"^^xsd:string) AnnotationAssertion( "congenital myopathy 2"^^xsd:string) AnnotationAssertion( "nemaline myopathy 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "nemaline myopathy caused by mutation in the nebulin gene"^^xsd:string) AnnotationAssertion( "nemaline myopathy type 2"^^xsd:string) AnnotationAssertion( "nemaline myopathy, NEB-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110928"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24268659"^^xsd:string) "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615731"^^xsd:string) AnnotationAssertion( "NEM9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110929"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23746549"^^xsd:string) "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615348"^^xsd:string) AnnotationAssertion( "NCI:C129871"^^xsd:string) AnnotationAssertion( "NEM8"^^xsd:string) AnnotationAssertion( "nemaline myopathy 8, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110930"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25250574"^^xsd:string) "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616165"^^xsd:string) AnnotationAssertion( "NEM10"^^xsd:string) AnnotationAssertion( "congenital myopathy 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110931"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11738357"^^xsd:string) "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538351"^^xsd:string) AnnotationAssertion( "MIM:609285"^^xsd:string) AnnotationAssertion( "MONDO:0012240"^^xsd:string) AnnotationAssertion( "NCI:C164225"^^xsd:string) AnnotationAssertion( "CMYO23"^^xsd:string) AnnotationAssertion( "Cap Myopathy, Tpm2-Related"^^xsd:string) AnnotationAssertion( "NEM4"^^xsd:string) AnnotationAssertion( "congenital myopathy 23"^^xsd:string) AnnotationAssertion( "nemaline myopathy 4, autosomal dominant"^^xsd:string) AnnotationAssertion( "nemaline myopathy caused by mutation in the tropomyosin 2 gene"^^xsd:string) AnnotationAssertion( "CAP MYOPATHY 2"^^xsd:string) AnnotationAssertion( "CAPM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110932"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28017374"^^xsd:string) "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. (DO)"^^xsd:string) AnnotationAssertion( "MYPN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617336"^^xsd:string) AnnotationAssertion( "MONDO:0015023"^^xsd:string) AnnotationAssertion( "CMYP4"^^xsd:string) AnnotationAssertion( "MYPN-related myopathy"^^xsd:string) AnnotationAssertion( "NEM11"^^xsd:string) AnnotationAssertion( "congenital myopathy 24"^^xsd:string) AnnotationAssertion( "nemaline myopathy 11, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110933"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17160903"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22560515"^^xsd:string) "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610687"^^xsd:string) AnnotationAssertion( "MESH:C565198"^^xsd:string) AnnotationAssertion( "NEM7"^^xsd:string) AnnotationAssertion( "nemaline myopathy 7, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110934"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21109227"^^xsd:string) "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609273"^^xsd:string) AnnotationAssertion( "MESH:C538398"^^xsd:string) AnnotationAssertion( "NEM6"^^xsd:string) AnnotationAssertion( "nemaline myopathy 6, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110935"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nemaline myopathy 5A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10952871"^^xsd:string) "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605355"^^xsd:string) AnnotationAssertion( "GARD:8334"^^xsd:string) AnnotationAssertion( "MESH:C538397"^^xsd:string) AnnotationAssertion( "ORDO:98902"^^xsd:string) AnnotationAssertion( "ANM"^^xsd:string) AnnotationAssertion( "Amish nemaline myopathy"^^xsd:string) AnnotationAssertion( "NEM5"^^xsd:string) AnnotationAssertion( "nemaline myopathy 5, Amish type"^^xsd:string) AnnotationAssertion( "nemaline myopathy, Amish type"^^xsd:string) AnnotationAssertion( "nemaline myopathy, caused by mutation in the troponin t1 gene"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110936"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy 5A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant osteopetrosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3377922"^^xsd:string) "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607634"^^xsd:string) AnnotationAssertion( "GARD:4151"^^xsd:string) AnnotationAssertion( "MESH:C536056"^^xsd:string) AnnotationAssertion( "ORDO:2783"^^xsd:string) AnnotationAssertion( "OPTA1"^^xsd:string) AnnotationAssertion( "autosomal dominant osteopetrosis type 1"^^xsd:string) AnnotationAssertion( "autosomal dominant osteopetrosis, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110937"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant osteopetrosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant osteopetrosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11741829"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3588909"^^xsd:string) "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "autosomal dominant Albers-Schonberg disease"^^xsd:string) AnnotationAssertion( "GARD:383"^^xsd:string) AnnotationAssertion( "MIM:166600"^^xsd:string) AnnotationAssertion( "ORDO:53"^^xsd:string) AnnotationAssertion( "Albers-Schonberg osteopetrosis"^^xsd:string) AnnotationAssertion( "OPTA2"^^xsd:string) AnnotationAssertion( "autosomal dominant osteopetrosis type 2"^^xsd:string) AnnotationAssertion( "autosomal dominant osteopetrosis, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110938"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant osteopetrosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12627228"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259720"^^xsd:string) AnnotationAssertion( "GARD:4153"^^xsd:string) AnnotationAssertion( "MESH:C566883"^^xsd:string) AnnotationAssertion( "OPTB5"^^xsd:string) AnnotationAssertion( "infantile malignant osteopetrosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110939"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22499339"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615085"^^xsd:string) AnnotationAssertion( "NCI:C150556"^^xsd:string) AnnotationAssertion( "OPTB8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110940"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1928091"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259730"^^xsd:string) AnnotationAssertion( "GARD:4154"^^xsd:string) AnnotationAssertion( "MESH:C536058"^^xsd:string) AnnotationAssertion( "NCI:C118438"^^xsd:string) AnnotationAssertion( "Guibaud Vainsel syndrome"^^xsd:string) AnnotationAssertion( "OPTB3"^^xsd:string) AnnotationAssertion( "autosomal recessive osteopetrosis 3 with renal tubular acidosis"^^xsd:string) AnnotationAssertion( "carbonic anhydrase 2 deficiency"^^xsd:string) AnnotationAssertion( "carbonic anhydrase II deficiency"^^xsd:string) AnnotationAssertion( "marble brain disease"^^xsd:string) AnnotationAssertion( "osteopetrosis with renal tubular acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CARBONIC ANHYDRASE II VARIANT"^^xsd:string) AnnotationAssertion( "DOID:0110941"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10888887"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259700"^^xsd:string) AnnotationAssertion( "GARD:2579"^^xsd:string) AnnotationAssertion( "MESH:C564915"^^xsd:string) AnnotationAssertion( "NCI:C167215"^^xsd:string) AnnotationAssertion( "Albers-Schonberg Disease, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Marble Bones, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "OPTB1"^^xsd:string) AnnotationAssertion( "TCIRG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "infantile malignant osteopetrosis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110942"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17632511"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4157"^^xsd:string) AnnotationAssertion( "MESH:C536059"^^xsd:string) AnnotationAssertion( "MIM:259710"^^xsd:string) AnnotationAssertion( "Mild autosomal recessive form of osteopetrosis"^^xsd:string) AnnotationAssertion( "OPTB2"^^xsd:string) AnnotationAssertion( "mild autosomal recessive form osteopetrosis"^^xsd:string) AnnotationAssertion( "osteoclast-poor osteopetrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110943"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11207362"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611490"^^xsd:string) AnnotationAssertion( "GARD:5993"^^xsd:string) AnnotationAssertion( "MESH:C566933"^^xsd:string) AnnotationAssertion( "OPTB4"^^xsd:string) AnnotationAssertion( "infantile malignant osteopetrosis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110944"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17404618"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611497"^^xsd:string) AnnotationAssertion( "GARD:4156"^^xsd:string) AnnotationAssertion( "MESH:C566931"^^xsd:string) AnnotationAssertion( "OPTB6"^^xsd:string) AnnotationAssertion( "Osteopetrosis, Autosomal Recessive, Intermediate Form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110945"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive osteopetrosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18606301"^^xsd:string) "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10106"^^xsd:string) AnnotationAssertion( "MESH:C567354"^^xsd:string) AnnotationAssertion( "MIM:612301"^^xsd:string) AnnotationAssertion( "MONDO:0012859"^^xsd:string) AnnotationAssertion( "ORDO:178389"^^xsd:string) AnnotationAssertion( "OPTB7"^^xsd:string) AnnotationAssertion( "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "autosomal recessive osteopetrosis type 7"^^xsd:string) AnnotationAssertion( "osteoclast-poor osteopetrosis with hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "osteopetrosis-hypogammaglobulinemia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110946"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive osteopetrosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Waardenburg syndrome type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7951321"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600193"^^xsd:string) AnnotationAssertion( "GARD:5522"^^xsd:string) AnnotationAssertion( "MESH:C536465"^^xsd:string) AnnotationAssertion( "WS2B"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110947"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 2B"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1347148"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:193500"^^xsd:string) AnnotationAssertion( "ORDO:894"^^xsd:string) AnnotationAssertion( "WS1"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type I"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome with dystopia canthorum"^^xsd:string) AnnotationAssertion( "Waardenburg's syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110948"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8447316"^^xsd:string) "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5523"^^xsd:string) AnnotationAssertion( "MIM:148820"^^xsd:string) AnnotationAssertion( "ORDO:896"^^xsd:string) AnnotationAssertion( "Klein Waardenburg syndrome"^^xsd:string) AnnotationAssertion( "WS3"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome with upper limb anomalies"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110949"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 3"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7874167"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193510"^^xsd:string) AnnotationAssertion( "OMIA:001401"^^xsd:string) AnnotationAssertion( "GARD:5521"^^xsd:string) AnnotationAssertion( "MESH:C536464"^^xsd:string) AnnotationAssertion( "WS2A"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome without dystopia canthorum"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome, type IIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110950"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Waardenburg syndrome type 2C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11810298"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606662"^^xsd:string) AnnotationAssertion( "MESH:C564684"^^xsd:string) AnnotationAssertion( "WS2C"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110951"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 2C"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 4A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8001158"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277580"^^xsd:string) AnnotationAssertion( "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A"^^xsd:string) AnnotationAssertion( "WS4A"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IVA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110953"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 4A"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 4B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8630502"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613265"^^xsd:string) AnnotationAssertion( "MESH:C567680"^^xsd:string) AnnotationAssertion( "WS4B"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IVB"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome with Hirschsprung disease type 4B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110954"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 4B"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 4C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9462749"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613266"^^xsd:string) AnnotationAssertion( "MESH:C567679"^^xsd:string) AnnotationAssertion( "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C"^^xsd:string) AnnotationAssertion( "WS4C"^^xsd:string) AnnotationAssertion( "Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IVC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110955"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 4C"^^xsd:string) SubClassOf( ) # Class: (Waardenburg syndrome type 2E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10441344"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20127975"^^xsd:string) "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611584"^^xsd:string) AnnotationAssertion( "MESH:C536463"^^xsd:string) AnnotationAssertion( "WS2E"^^xsd:string) AnnotationAssertion( "WS2E with or without neurological involvement"^^xsd:string) AnnotationAssertion( "WS2E, with or without neurologic involvement"^^xsd:string) AnnotationAssertion( "Waardenburg Syndrome Type 2E, With Neurologic Involvement"^^xsd:string) AnnotationAssertion( "Waardenburg Syndrome Type 2E, Without Neurologic Involvement"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type 2E, with or without neurologic involvement"^^xsd:string) AnnotationAssertion( "Waardenburg syndrome type IIE"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110956"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome type 2E"^^xsd:string) SubClassOf( ) # Class: (Gaucher's disease type I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1897529"^^xsd:string) "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2441"^^xsd:string) AnnotationAssertion( "MIM:230800"^^xsd:string) AnnotationAssertion( "MONDO:0009265"^^xsd:string) AnnotationAssertion( "ORDO:77259"^^xsd:string) AnnotationAssertion( "GBA deficiency"^^xsd:string) AnnotationAssertion( "GD I"^^xsd:string) AnnotationAssertion( "GD1"^^xsd:string) AnnotationAssertion( "Gaucher disease type 1"^^xsd:string) AnnotationAssertion( "Gaucher disease, non neuronopathic form"^^xsd:string) AnnotationAssertion( "Gaucher disease, noncerebral juvenile"^^xsd:string) AnnotationAssertion( "Gaucher disease, type I"^^xsd:string) AnnotationAssertion( "Gaucher's disease, type 1"^^xsd:string) AnnotationAssertion( "juvenile Gaucher disease"^^xsd:string) AnnotationAssertion( "non neuronopathic Gaucher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110957"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease type I"^^xsd:string) SubClassOf( ) # Class: (Gaucher's disease type II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10649495"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2880291"^^xsd:string) "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:230900"^^xsd:string) AnnotationAssertion( "MESH:C531689"^^xsd:string) AnnotationAssertion( "ORDO:77260"^^xsd:string) AnnotationAssertion( "GD II"^^xsd:string) AnnotationAssertion( "GD2"^^xsd:string) AnnotationAssertion( "Gaucher disease type 2"^^xsd:string) AnnotationAssertion( "Gaucher disease, acute neuronopathic type"^^xsd:string) AnnotationAssertion( "Gaucher disease, type II"^^xsd:string) AnnotationAssertion( "acute cerebral Gaucher disease"^^xsd:string) AnnotationAssertion( "acute neuronopathic Gaucher disease"^^xsd:string) AnnotationAssertion( "infantile cerebral Gaucher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110958"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease type II"^^xsd:string) SubClassOf( ) # Class: (Gaucher's disease type III) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2378352"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8413956"^^xsd:string) "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2443"^^xsd:string) AnnotationAssertion( "MESH:C565554"^^xsd:string) AnnotationAssertion( "MIM:231000"^^xsd:string) AnnotationAssertion( "MONDO:0009267"^^xsd:string) AnnotationAssertion( "ORDO:77261"^^xsd:string) AnnotationAssertion( "GD III"^^xsd:string) AnnotationAssertion( "GD3"^^xsd:string) AnnotationAssertion( "Gaucher disease type 3"^^xsd:string) AnnotationAssertion( "Gaucher disease type III"^^xsd:string) AnnotationAssertion( "Gaucher disease, chronic neuronopathic type"^^xsd:string) AnnotationAssertion( "Gaucher disease, juvenile and adult, cerebral"^^xsd:string) AnnotationAssertion( "Gaucher disease, subacute neuronopathic form"^^xsd:string) AnnotationAssertion( "Gaucher disease, subacute neuronopathic type"^^xsd:string) AnnotationAssertion( "subacute neuronopathic Gaucher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110959"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease type III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gaucher's disease perinatal lethal) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12838552"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1437405"^^xsd:string) "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608013"^^xsd:string) AnnotationAssertion( "MESH:C564306"^^xsd:string) AnnotationAssertion( "ORDO:85212"^^xsd:string) AnnotationAssertion( "GAUCHER DISEASE, PERINATAL LETHAL"^^xsd:string) AnnotationAssertion( "Gaucher disease, collodion type"^^xsd:string) AnnotationAssertion( "Gaucher disease, fetal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110960"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease perinatal lethal"^^xsd:string) SubClassOf( ) # Class: (atypical Gaucher's disease due to saposin C deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17919309"^^xsd:string) "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610539"^^xsd:string) AnnotationAssertion( "MESH:C566435"^^xsd:string) AnnotationAssertion( "ORDO:309252"^^xsd:string) AnnotationAssertion( "GDSAPC"^^xsd:string) AnnotationAssertion( "atypical Gaucher disease due to saposin C deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110961"^^xsd:string) AnnotationAssertion(rdfs:label "atypical Gaucher's disease due to saposin C deficiency"^^xsd:string) SubClassOf( ) # Class: (brachydactyly-preaxial hallux varus syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5082920"^^xsd:string) "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112450"^^xsd:string) AnnotationAssertion( "RDO:0002861"^^xsd:string) AnnotationAssertion( "MESH:C537087"^^xsd:string) AnnotationAssertion( "ORDO:1278"^^xsd:string) AnnotationAssertion( "Christian brachydactyly"^^xsd:string) AnnotationAssertion( "dominant preaxial brachydactyly with hallux varus and thumb abduction"^^xsd:string) AnnotationAssertion( "preaxial brachydactyly with hallux varus and thumb abduction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110962"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly-preaxial hallux varus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ballard syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4009643"^^xsd:string) "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112440"^^xsd:string) AnnotationAssertion( "RDO:0002868"^^xsd:string) AnnotationAssertion( "MESH:C537094"^^xsd:string) AnnotationAssertion( "ORDO:93395"^^xsd:string) AnnotationAssertion( "Brachydactyly Ballard type"^^xsd:string) AnnotationAssertion( "Brachydactyly Types B and E Combined"^^xsd:string) AnnotationAssertion( "Pitt Williams brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110963"^^xsd:string) AnnotationAssertion(rdfs:label "Ballard syndrome"^^xsd:string) SubClassOf( ) # Class: (brachydactyly type A1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12525541"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14043746"^^xsd:string) "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112500"^^xsd:string) AnnotationAssertion( "RDO:0002862"^^xsd:string) AnnotationAssertion( "IHH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:978"^^xsd:string) AnnotationAssertion( "MESH:C537088"^^xsd:string) AnnotationAssertion( "ORDO:93388"^^xsd:string) AnnotationAssertion( "BDA1"^^xsd:string) AnnotationAssertion( "Farabee-Type Brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110964"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type A2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14523231"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16127465"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21357617"^^xsd:string) "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112600"^^xsd:string) AnnotationAssertion( "GARD:979"^^xsd:string) AnnotationAssertion( "MESH:C537089"^^xsd:string) AnnotationAssertion( "ORDO:93396"^^xsd:string) AnnotationAssertion( "BDA2"^^xsd:string) AnnotationAssertion( "Mohr-Wriedt type brachydactyly"^^xsd:string) AnnotationAssertion( "brachymesophalangy 2"^^xsd:string) AnnotationAssertion( "brachymesophalangy II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110965"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type A3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7416253"^^xsd:string) "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112700"^^xsd:string) AnnotationAssertion( "RDO:0002864"^^xsd:string) AnnotationAssertion( "GARD:963"^^xsd:string) AnnotationAssertion( "MESH:C537090"^^xsd:string) AnnotationAssertion( "BDA3"^^xsd:string) AnnotationAssertion( "brachydactyly-clinodactyly"^^xsd:string) AnnotationAssertion( "brachymesophalangy 5"^^xsd:string) AnnotationAssertion( "brachymesophalangy V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110966"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A3"^^xsd:string) SubClassOf( ) # Class: (brachydactyly type A4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4325377"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5663738"^^xsd:string) "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112800"^^xsd:string) AnnotationAssertion( "RDO:0002871"^^xsd:string) AnnotationAssertion( "GARD:990"^^xsd:string) AnnotationAssertion( "MESH:C537097"^^xsd:string) AnnotationAssertion( "ORDO:93394"^^xsd:string) AnnotationAssertion( "BDA4"^^xsd:string) AnnotationAssertion( "brachymesophalangy 2 and 5"^^xsd:string) AnnotationAssertion( "brachymesophalangy II and V"^^xsd:string) AnnotationAssertion( "temtamy type brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110967"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A4"^^xsd:string) SubClassOf( ) # Class: (brachydactyly type A6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4073129"^^xsd:string) "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112910"^^xsd:string) AnnotationAssertion( "RDO:0002866"^^xsd:string) AnnotationAssertion( "GARD:983"^^xsd:string) AnnotationAssertion( "MESH:C537092"^^xsd:string) AnnotationAssertion( "ORDO:93382"^^xsd:string) AnnotationAssertion( "BDA6"^^xsd:string) AnnotationAssertion( "Osebold-Remondini syndrome"^^xsd:string) AnnotationAssertion( "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110968"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A6"^^xsd:string) SubClassOf( ) # Class: (brachydactyly type B1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10700182"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9973295"^^xsd:string) "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113000"^^xsd:string) AnnotationAssertion( "ROR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566196"^^xsd:string) AnnotationAssertion( "BDB"^^xsd:string) AnnotationAssertion( "BDB1"^^xsd:string) AnnotationAssertion( "brachydactyly, type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110969"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type B1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9288091"^^xsd:string) "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113100"^^xsd:string) AnnotationAssertion( "GARD:986"^^xsd:string) AnnotationAssertion( "MESH:C537093"^^xsd:string) AnnotationAssertion( "ORDO:93384"^^xsd:string) AnnotationAssertion( "BDC"^^xsd:string) AnnotationAssertion( "brachydactyly, Haws type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110970"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12649808"^^xsd:string) "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113200"^^xsd:string) AnnotationAssertion( "MESH:C562420"^^xsd:string) AnnotationAssertion( "BDD"^^xsd:string) AnnotationAssertion( "stub thumb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110971"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type E1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12649808"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8933344"^^xsd:string) "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113300"^^xsd:string) AnnotationAssertion( "BDE1"^^xsd:string) AnnotationAssertion( "BRACHYDACTYLY SYNDROME TYPE E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110972"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type E1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mononen-Karnes-Senac syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1632443"^^xsd:string) "A brachydactyly characterized by short, abducted thumbs and great toes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301940"^^xsd:string) AnnotationAssertion( "MESH:C535914"^^xsd:string) AnnotationAssertion( "ORDO:2565"^^xsd:string) AnnotationAssertion( "Mononen type brachydactyly"^^xsd:string) AnnotationAssertion( "short and abducted thumbs and great toes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110973"^^xsd:string) AnnotationAssertion(rdfs:label "Mononen-Karnes-Senac syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type A1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11897820"^^xsd:string) "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607004"^^xsd:string) AnnotationAssertion( "MESH:C564635"^^xsd:string) AnnotationAssertion( "RDO:0013528"^^xsd:string) AnnotationAssertion( "BDA1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110974"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type B2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17668388"^^xsd:string) "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009521"^^xsd:string) AnnotationAssertion( "ICD10CM:Q73.8"^^xsd:string) AnnotationAssertion( "MIM:611377"^^xsd:string) AnnotationAssertion( "ORDO:140908"^^xsd:string) AnnotationAssertion( "BDB2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110975"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type B2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type E2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20015959"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20170896"^^xsd:string) "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613382"^^xsd:string) AnnotationAssertion( "BDE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110976"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type E2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type A1C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20683927"^^xsd:string) "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000200"^^xsd:string) AnnotationAssertion( "MIM:615072"^^xsd:string) AnnotationAssertion( "BDA1C"^^xsd:string) AnnotationAssertion( "BRACHYDACTYLY, TYPE A1, C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110977"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brachydactyly type A1D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25758993"^^xsd:string) "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000376"^^xsd:string) AnnotationAssertion( "MIM:616849"^^xsd:string) AnnotationAssertion( "BDA1D"^^xsd:string) AnnotationAssertion( "brachydactyly type A1, D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110978"^^xsd:string) AnnotationAssertion(rdfs:label "brachydactyly type A1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sugarman brachydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7083610"^^xsd:string) "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5058"^^xsd:string) AnnotationAssertion( "MIM:272150"^^xsd:string) AnnotationAssertion( "ORDO:498602"^^xsd:string) AnnotationAssertion( "brachydactyly with major proximal phalangeal shortening"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110979"^^xsd:string) AnnotationAssertion(rdfs:label "Sugarman brachydactyly"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19668216"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:213300"^^xsd:string) AnnotationAssertion( "INPP5E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536293"^^xsd:string) AnnotationAssertion( "CORS1"^^xsd:string) AnnotationAssertion( "CPD4"^^xsd:string) AnnotationAssertion( "Cerebello-Oculo-Renal Syndrome"^^xsd:string) AnnotationAssertion( "Cerebellooculorenal syndrome 1"^^xsd:string) AnnotationAssertion( "Cerebelloparenchymal disorder 4"^^xsd:string) AnnotationAssertion( "JBTS1"^^xsd:string) AnnotationAssertion( "Joubert-Boltshauser syndrome"^^xsd:string) AnnotationAssertion( "agenesis of cerebellar vermis"^^xsd:string) AnnotationAssertion( "cerebellar vermis agenesis"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder IV"^^xsd:string) AnnotationAssertion( "familial aplasia of the vermis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110980"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19800048"^^xsd:string) "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300804"^^xsd:string) AnnotationAssertion( "RDO:0015629"^^xsd:string) AnnotationAssertion( "MESH:C567582"^^xsd:string) AnnotationAssertion( "JBTS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110981"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21725307"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614173"^^xsd:string) AnnotationAssertion( "RDO:9000484"^^xsd:string) AnnotationAssertion( "JBTS13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110982"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 13"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17603801"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22152675"^^xsd:string) "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614424"^^xsd:string) AnnotationAssertion( "JBTS14"^^xsd:string) AnnotationAssertion( "TMEM237-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110983"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22246503"^^xsd:string) "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614464"^^xsd:string) AnnotationAssertion( "JBTS15"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME 12/15, DIGENIC"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME 9/15, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110984"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22282472"^^xsd:string) "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614465"^^xsd:string) AnnotationAssertion( "JBTS16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110985"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 16"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26092869"^^xsd:string) "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)"^^xsd:string) AnnotationAssertion( "CPLANE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614615"^^xsd:string) AnnotationAssertion( "NCI:C175702"^^xsd:string) AnnotationAssertion( "JBTS17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110986"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 17"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22883145"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614815"^^xsd:string) AnnotationAssertion( "JBTS18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110987"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 18"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20036350"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9373798"^^xsd:string) "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608091"^^xsd:string) AnnotationAssertion( "GARD:10167"^^xsd:string) AnnotationAssertion( "MESH:C536294"^^xsd:string) AnnotationAssertion( "CORS2"^^xsd:string) AnnotationAssertion( "Cerebellooculorenal syndrome 2"^^xsd:string) AnnotationAssertion( "JBTS2"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME TYPE 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110988"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23012439"^^xsd:string) "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614970"^^xsd:string) AnnotationAssertion( "RDO:9000490"^^xsd:string) AnnotationAssertion( "JBTS20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110989"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 20"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24360808"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615636"^^xsd:string) AnnotationAssertion( "RDO:9001022"^^xsd:string) AnnotationAssertion( "JBTS21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110990"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 21"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24166846"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615665"^^xsd:string) AnnotationAssertion( "JBTS22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110991"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 22"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26096313"^^xsd:string) "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "KIAA0586-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616490"^^xsd:string) AnnotationAssertion( "JBTS23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110992"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 23"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21565611"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25118024"^^xsd:string) "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000414"^^xsd:string) AnnotationAssertion( "TCTN2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "TCTN2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:616654"^^xsd:string) AnnotationAssertion( "JBTS24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110993"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 24"^^xsd:string) SubClassOf( ) # Class: (Joubert syndrome 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26477546"^^xsd:string) "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616781"^^xsd:string) AnnotationAssertion( "JBTS25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110994"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 25"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26714646"^^xsd:string) "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616784"^^xsd:string) AnnotationAssertion( "JBTS26"^^xsd:string) AnnotationAssertion( "KATNIP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110995"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 26"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24886560"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617120"^^xsd:string) AnnotationAssertion( "RDO:9001266"^^xsd:string) AnnotationAssertion( "JBTS27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110996"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24886560"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617121"^^xsd:string) AnnotationAssertion( "RDO:9001267"^^xsd:string) AnnotationAssertion( "JBTS28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110997"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15322546"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608629"^^xsd:string) AnnotationAssertion( "MESH:C536295"^^xsd:string) AnnotationAssertion( "NCI:C148259"^^xsd:string) AnnotationAssertion( "JBTS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110998"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15138899"^^xsd:string) "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609583"^^xsd:string) AnnotationAssertion( "GARD:10169"^^xsd:string) AnnotationAssertion( "MESH:C536296"^^xsd:string) AnnotationAssertion( "JBTS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0110999"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16682973"^^xsd:string) "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610188"^^xsd:string) AnnotationAssertion( "MESH:C537688"^^xsd:string) AnnotationAssertion( "JBTS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111000"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17160906"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610688"^^xsd:string) AnnotationAssertion( "MESH:C537689"^^xsd:string) AnnotationAssertion( "JBTS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111001"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17558409"^^xsd:string) "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611560"^^xsd:string) AnnotationAssertion( "MESH:C566916"^^xsd:string) AnnotationAssertion( "NCI:C159653"^^xsd:string) AnnotationAssertion( "JBTS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111002"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18674751"^^xsd:string) "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612291"^^xsd:string) AnnotationAssertion( "MESH:C567358"^^xsd:string) AnnotationAssertion( "JBTS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111003"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert syndrome 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18387594"^^xsd:string) "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612285"^^xsd:string) AnnotationAssertion( "CC2D2A-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567364"^^xsd:string) AnnotationAssertion( "NCI:C181002"^^xsd:string) AnnotationAssertion( "JBTS9"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME 9/15, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111004"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert syndrome 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9390563"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001675"^^xsd:string) AnnotationAssertion( "GARD:6145"^^xsd:string) AnnotationAssertion( "MIM:120970"^^xsd:string) AnnotationAssertion( "NCI:C162399"^^xsd:string) AnnotationAssertion( "CORD2"^^xsd:string) AnnotationAssertion( "CRD2"^^xsd:string) AnnotationAssertion( "RCRD2"^^xsd:string) AnnotationAssertion( "retinal cone-rod dystrophy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111005"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked cone-rod dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9199568"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300085"^^xsd:string) AnnotationAssertion( "X-LINKED CONE-ROD DYSTROPHY"^^xsd:string) AnnotationAssertion( "MESH:C564717"^^xsd:string) AnnotationAssertion( "RDO:0013585"^^xsd:string) AnnotationAssertion( "COD2"^^xsd:string) AnnotationAssertion( "CONE DYSTROPHY 2, X-LINKED"^^xsd:string) AnnotationAssertion( "CORDX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111006"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cone-rod dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked cone-rod dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16505158"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300476"^^xsd:string) AnnotationAssertion( "RDO:0013449"^^xsd:string) AnnotationAssertion( "X-LINKED CONE-ROD DYSTROPHY"^^xsd:string) AnnotationAssertion( "MESH:C564507"^^xsd:string) AnnotationAssertion( "CORDX3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111007"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cone-rod dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked cone-rod dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11857109"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304020"^^xsd:string) AnnotationAssertion( "X-LINKED CONE-ROD DYSTROPHY"^^xsd:string) AnnotationAssertion( "MESH:C564438"^^xsd:string) AnnotationAssertion( "MESH:C564439"^^xsd:string) AnnotationAssertion( "COD1"^^xsd:string) AnnotationAssertion( "CORDX1"^^xsd:string) AnnotationAssertion( "X-linked cone dystrophy 1"^^xsd:string) AnnotationAssertion( "X-linked cone-rod dystrophy, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111008"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cone-rod dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1867279"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600624"^^xsd:string) AnnotationAssertion( "OMIA:001674"^^xsd:string) AnnotationAssertion( "GARD:10651"^^xsd:string) AnnotationAssertion( "MESH:C563469"^^xsd:string) AnnotationAssertion( "CORD1"^^xsd:string) AnnotationAssertion( "CRD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111009"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17377520"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600977"^^xsd:string) AnnotationAssertion( "MESH:C563415"^^xsd:string) AnnotationAssertion( "CORD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111010"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9618177"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601777"^^xsd:string) AnnotationAssertion( "GARD:10656"^^xsd:string) AnnotationAssertion( "MESH:C538363"^^xsd:string) AnnotationAssertion( "CORD6"^^xsd:string) AnnotationAssertion( "Cone degeneration, autosomal dominant progressive"^^xsd:string) AnnotationAssertion( "RCD2"^^xsd:string) AnnotationAssertion( "retinal cone dystrophy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111011"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35947379/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12659814"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603649"^^xsd:string) AnnotationAssertion( "MESH:C566350"^^xsd:string) AnnotationAssertion( "CORD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111012"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9466990"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604116"^^xsd:string) AnnotationAssertion( "OMIA:001520"^^xsd:string) AnnotationAssertion( "GARD:10653"^^xsd:string) AnnotationAssertion( "MESH:C565827"^^xsd:string) AnnotationAssertion( "CORD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111013"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11053266"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605549"^^xsd:string) AnnotationAssertion( "MESH:C565322"^^xsd:string) AnnotationAssertion( "CORD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111014"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Newfoundland cone-rod dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11868161"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607476"^^xsd:string) AnnotationAssertion( "MESH:C564391"^^xsd:string) AnnotationAssertion( "NFRCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111015"^^xsd:string) AnnotationAssertion(rdfs:label "Newfoundland cone-rod dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12920076"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608194"^^xsd:string) AnnotationAssertion( "OMIA:001432"^^xsd:string) AnnotationAssertion( "MESH:C567698"^^xsd:string) AnnotationAssertion( "CORD13"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111016"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16199541"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610283"^^xsd:string) AnnotationAssertion( "MESH:C564597"^^xsd:string) AnnotationAssertion( "CORD10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111017"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25789692"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610381"^^xsd:string) AnnotationAssertion( "MESH:C563671"^^xsd:string) AnnotationAssertion( "CORD11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111018"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35947379/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18654668"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24474277"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612657"^^xsd:string) AnnotationAssertion( "MESH:C567206"^^xsd:string) AnnotationAssertion( "CORD12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111019"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 12"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19409519"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009706"^^xsd:string) AnnotationAssertion( "MIM:612775"^^xsd:string) AnnotationAssertion( "CORD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111020"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 9"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20805371"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. (DO)"^^xsd:string) AnnotationAssertion( "CDHR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613660"^^xsd:string) AnnotationAssertion( "CORD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MACULAR DYSTROPHY, RETINAL, 5"^^xsd:string) AnnotationAssertion( "MCDR5"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA 65"^^xsd:string) AnnotationAssertion( "RP65"^^xsd:string) AnnotationAssertion( "DOID:0111021"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 15"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26865426"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)"^^xsd:string) AnnotationAssertion( "C8ORF37-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CFAP418-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614500"^^xsd:string) AnnotationAssertion( "CORD16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT"^^xsd:string) AnnotationAssertion( "RP64"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 64"^^xsd:string) AnnotationAssertion( "DOID:0111022"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22929024"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615163"^^xsd:string) AnnotationAssertion( "CORD17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111023"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23746546"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615374"^^xsd:string) AnnotationAssertion( "CORD18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111024"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 18"^^xsd:string) SubClassOf( ) # Class: (cone-rod dystrophy 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24791901"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615860"^^xsd:string) AnnotationAssertion( "CORD19"^^xsd:string) AnnotationAssertion( "TTLL5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111025"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cone-rod dystrophy 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24945461"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25018096"^^xsd:string) "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615973"^^xsd:string) AnnotationAssertion( "CORD 20"^^xsd:string) AnnotationAssertion( "CORD20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111026"^^xsd:string) AnnotationAssertion(rdfs:label "cone-rod dystrophy 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemochromatosis type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14647275"^^xsd:string) "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:602390"^^xsd:string) AnnotationAssertion( "HFE2A"^^xsd:string) AnnotationAssertion( "HJV-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hemochromatosis type 2a, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0111027"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 2A"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11431687"^^xsd:string) "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606069"^^xsd:string) AnnotationAssertion( "GARD:10094"^^xsd:string) AnnotationAssertion( "MESH:C537249"^^xsd:string) AnnotationAssertion( "ORDO:139491"^^xsd:string) AnnotationAssertion( "HFE4"^^xsd:string) AnnotationAssertion( "autosomal dominant hereditary hemochromatosis"^^xsd:string) AnnotationAssertion( "ferroportin disease"^^xsd:string) AnnotationAssertion( "hemochromatosis due to defect in ferroportin"^^xsd:string) AnnotationAssertion( "hemochromatosis, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111028"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 4"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8696333"^^xsd:string) "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006513"^^xsd:string) AnnotationAssertion( "GARD:10417"^^xsd:string) AnnotationAssertion( "MIM:235200"^^xsd:string) AnnotationAssertion( "ORDO:465508"^^xsd:string) AnnotationAssertion( "HFE1"^^xsd:string) AnnotationAssertion( "hereditary hemochromatosis type 1"^^xsd:string) AnnotationAssertion( "symptomatic form of HFE-related hereditary hemochromatosis"^^xsd:string) AnnotationAssertion( "symptomatic form of classic hemochromatosis"^^xsd:string) AnnotationAssertion( "symptomatic form of hemochromatosis type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hemochromatosis type 1, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0111029"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 1"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10802645"^^xsd:string) "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604250"^^xsd:string) AnnotationAssertion( "GARD:10093"^^xsd:string) AnnotationAssertion( "MESH:C537248"^^xsd:string) AnnotationAssertion( "ORDO:225123"^^xsd:string) AnnotationAssertion( "HFE3"^^xsd:string) AnnotationAssertion( "Hemochromatosis due to defect in transferrin receptor 2"^^xsd:string) AnnotationAssertion( "TFR2-related hemochromatosis"^^xsd:string) AnnotationAssertion( "hereditary hemochromatosis type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111030"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 3"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11389486"^^xsd:string) "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615517"^^xsd:string) AnnotationAssertion( "MESH:C565020"^^xsd:string) AnnotationAssertion( "ORDO:247790"^^xsd:string) AnnotationAssertion( "FTH1-associated iron overload"^^xsd:string) AnnotationAssertion( "FTH1-related iron overload"^^xsd:string) AnnotationAssertion( "HEREDITARY HEMOCHROMATOSIS TYPE 5"^^xsd:string) AnnotationAssertion( "HFE5"^^xsd:string) AnnotationAssertion( "iron overload, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111031"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 5"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12469120"^^xsd:string) "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613313"^^xsd:string) AnnotationAssertion( "MESH:C566557"^^xsd:string) AnnotationAssertion( "HAMP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HFE2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111032"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 2B"^^xsd:string) SubClassOf( ) # Class: (African iron overload) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10607817"^^xsd:string) "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601195"^^xsd:string) AnnotationAssertion( "RDO:0003819"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.1"^^xsd:string) AnnotationAssertion( "MESH:C537904"^^xsd:string) AnnotationAssertion( "ORDO:139507"^^xsd:string) AnnotationAssertion( "Bantu siderosis"^^xsd:string) AnnotationAssertion( "Hereditary iron overload and African Americans"^^xsd:string) AnnotationAssertion( "Iron overload in Africa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111033"^^xsd:string) AnnotationAssertion(rdfs:label "African iron overload"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemochromatosis type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1170/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10205270"^^xsd:string) "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10092"^^xsd:string) AnnotationAssertion( "MESH:C537247"^^xsd:string) AnnotationAssertion( "ORDO:79230"^^xsd:string) AnnotationAssertion( "HFE2"^^xsd:string) AnnotationAssertion( "JH"^^xsd:string) AnnotationAssertion( "JHH"^^xsd:string) AnnotationAssertion( "juvenile hemochromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111034"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis type 2"^^xsd:string) SubClassOf( ) # Class: (CADASIL 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10476042"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8878478"^^xsd:string) "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:125310"^^xsd:string) AnnotationAssertion( "CADASIL1"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1"^^xsd:string) AnnotationAssertion( "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"^^xsd:string) AnnotationAssertion( "hereditary dementia, multi-infarct type"^^xsd:string) AnnotationAssertion( "RECURRENT SUBCORTICAL INFARCTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111035"^^xsd:string) AnnotationAssertion(rdfs:label "CADASIL 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CADASIL2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26063658"^^xsd:string) "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F01.1"^^xsd:string) AnnotationAssertion( "MIM:616779"^^xsd:string) AnnotationAssertion( "CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2"^^xsd:string) AnnotationAssertion( "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2"^^xsd:string) AnnotationAssertion( "HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE"^^xsd:string) AnnotationAssertion( "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111036"^^xsd:string) AnnotationAssertion(rdfs:label "CADASIL2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycine N-methyltransferase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1159664"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11810299"^^xsd:string) "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004224"^^xsd:string) AnnotationAssertion( "GARD:10764"^^xsd:string) AnnotationAssertion( "MIM:606664"^^xsd:string) AnnotationAssertion( "ORDO:289891"^^xsd:string) AnnotationAssertion( "GNMT deficiency"^^xsd:string) AnnotationAssertion( "hypermethioninemia due to GNMT deficiency"^^xsd:string) AnnotationAssertion( "hypermethioninemia due to glycine N-methyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111037"^^xsd:string) AnnotationAssertion(rdfs:label "glycine N-methyltransferase deficiency"^^xsd:string) SubClassOf( ) # Class: (hypermethioninemia due to adenosine kinase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17120046"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21963049"^^xsd:string) "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567015"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.1"^^xsd:string) AnnotationAssertion( "MIM:614300"^^xsd:string) AnnotationAssertion( "ORDO:289290"^^xsd:string) AnnotationAssertion( "ADK hypermethioninemia"^^xsd:string) AnnotationAssertion( "ADK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRT8"^^xsd:string) AnnotationAssertion( "autosomal recessive mental retardation 8"^^xsd:string) AnnotationAssertion( "hypermethioninemia encephalopathy due to ADK deficiency"^^xsd:string) AnnotationAssertion( "hypermethioninemia encephalopathy due to adenosine kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111038"^^xsd:string) AnnotationAssertion(rdfs:label "hypermethioninemia due to adenosine kinase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15024124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2380820"^^xsd:string) "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:13177"^^xsd:string) AnnotationAssertion( "MIM:613752"^^xsd:string) AnnotationAssertion( "ORDO:88618"^^xsd:string) AnnotationAssertion( "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"^^xsd:string) AnnotationAssertion( "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency"^^xsd:string) AnnotationAssertion( "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111039"^^xsd:string) AnnotationAssertion(rdfs:label "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease IXD) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22238410"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7874115"^^xsd:string) "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300559"^^xsd:string) AnnotationAssertion( "MESH:C564485"^^xsd:string) AnnotationAssertion( "ORDO:715"^^xsd:string) AnnotationAssertion( "GSD IXD"^^xsd:string) AnnotationAssertion( "GSD due to muscle phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "GSD type 9D"^^xsd:string) AnnotationAssertion( "GSD type 9E"^^xsd:string) AnnotationAssertion( "GSD type IXd"^^xsd:string) AnnotationAssertion( "GSD type IXe"^^xsd:string) AnnotationAssertion( "GSD9D"^^xsd:string) AnnotationAssertion( "Muscle Phosphorylase Kinase Deficiency"^^xsd:string) AnnotationAssertion( "PHKA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked muscke glycogenosis"^^xsd:string) AnnotationAssertion( "X-linked muscle glycogenosis"^^xsd:string) AnnotationAssertion( "glycogen storage disease due to muscle phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 9D"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 9E"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXd"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXe"^^xsd:string) AnnotationAssertion( "glycogenosis due to muscle phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "glycogenosis type 9D"^^xsd:string) AnnotationAssertion( "glycogenosis type 9E"^^xsd:string) AnnotationAssertion( "glycogenosis type IXd"^^xsd:string) AnnotationAssertion( "glycogenosis type IXe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111040"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IXD"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease IXB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25266922"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9215682"^^xsd:string) "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563008"^^xsd:string) AnnotationAssertion( "MIM:261750"^^xsd:string) AnnotationAssertion( "MONDO:0009868"^^xsd:string) AnnotationAssertion( "ORDO:79240"^^xsd:string) AnnotationAssertion( "GSD IXB"^^xsd:string) AnnotationAssertion( "GSD due to liver and muscle phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "GSD type 9B"^^xsd:string) AnnotationAssertion( "GSD type IXb"^^xsd:string) AnnotationAssertion( "GSD9B"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 9B"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXb"^^xsd:string) AnnotationAssertion( "glycogenosis due to liver and muscle phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "glycogenosis of liver and muscle, autosomal recessive"^^xsd:string) AnnotationAssertion( "glycogenosis type 9B"^^xsd:string) AnnotationAssertion( "glycogenosis type IXb"^^xsd:string) AnnotationAssertion( "phosphorylase kinase deficiency of liver and muscle, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111041"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IXB"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease IXA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2303074"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7711737"^^xsd:string) "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564421"^^xsd:string) AnnotationAssertion( "MESH:C567579"^^xsd:string) AnnotationAssertion( "MIM:306000"^^xsd:string) AnnotationAssertion( "GSD type 9A"^^xsd:string) AnnotationAssertion( "GSD type IXa"^^xsd:string) AnnotationAssertion( "GSD9A"^^xsd:string) AnnotationAssertion( "XLG1"^^xsd:string) AnnotationAssertion( "XLG2"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 9A"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXa"^^xsd:string) AnnotationAssertion( "glycogenosis type 9A"^^xsd:string) AnnotationAssertion( "glycogenosis type IXa"^^xsd:string) AnnotationAssertion( "liver glycogenosis, X-linked, type I"^^xsd:string) AnnotationAssertion( "liver glycogenosis, X-linked, type II"^^xsd:string) AnnotationAssertion( "GSD IXA2"^^xsd:string) AnnotationAssertion( "GSD9A1"^^xsd:string) AnnotationAssertion( "GSD9A2"^^xsd:string) AnnotationAssertion( "glycogen storage disease IXa1"^^xsd:string) AnnotationAssertion( "glycogen storage disease IXa2"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXA1"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GSD VIII (formerly)"^^xsd:string) AnnotationAssertion( "GSD8 (formerly)"^^xsd:string) AnnotationAssertion( "glycogen storage disease VIII (formerly)"^^xsd:string) AnnotationAssertion( "DOID:0111042"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IXA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease IXC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6962066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9384616"^^xsd:string) "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613027"^^xsd:string) AnnotationAssertion( "MESH:C567809"^^xsd:string) AnnotationAssertion( "GSD IXC"^^xsd:string) AnnotationAssertion( "GSD type 9C"^^xsd:string) AnnotationAssertion( "GSD type IXc"^^xsd:string) AnnotationAssertion( "GSD9C"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 9C"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IXc"^^xsd:string) AnnotationAssertion( "glycogenosis type 9C"^^xsd:string) AnnotationAssertion( "glycogenosis type IXc"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111043"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IXC"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gray platelet syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17768118"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21765411"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21765412"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21765413"^^xsd:string) "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:139090"^^xsd:string) AnnotationAssertion( "GARD:2562"^^xsd:string) AnnotationAssertion( "MESH:D055652"^^xsd:string) AnnotationAssertion( "ORDO:721"^^xsd:string) AnnotationAssertion( "BDPLT4"^^xsd:string) AnnotationAssertion( "GPS"^^xsd:string) AnnotationAssertion( "Grey Platelet Syndrome"^^xsd:string) AnnotationAssertion( "Grey Platelet Syndromes"^^xsd:string) AnnotationAssertion( "NBEAL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "gray platelet syndromes"^^xsd:string) AnnotationAssertion( "platelet alpha-granule deficiencies"^^xsd:string) AnnotationAssertion( "platelet alpha-granule deficiency"^^xsd:string) AnnotationAssertion( "platelet-type bleeding disorder 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111044"^^xsd:string) AnnotationAssertion(rdfs:label "gray platelet syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2933589"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2943331"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614200"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.8"^^xsd:string) AnnotationAssertion( "MESH:C566000"^^xsd:string) AnnotationAssertion( "ORDO:98886"^^xsd:string) AnnotationAssertion( "BDPLT9"^^xsd:string) AnnotationAssertion( "COLLAGEN PLATELET RECEPTOR DEFICIENCY"^^xsd:string) AnnotationAssertion( "GP IA Deficiency"^^xsd:string) AnnotationAssertion( "Glycoprotein IA Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111045"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11499670"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7506948"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7686693"^^xsd:string) "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608404"^^xsd:string) AnnotationAssertion( "MESH:C564245"^^xsd:string) AnnotationAssertion( "BDPLT10"^^xsd:string) AnnotationAssertion( "CD36 Deficiency"^^xsd:string) AnnotationAssertion( "platelet glycoprotein IV deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111046"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6268139"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614158"^^xsd:string) AnnotationAssertion( "MESH:C562866"^^xsd:string) AnnotationAssertion( "BDPLT14"^^xsd:string) AnnotationAssertion( "thromboxane synthase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111047"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25061177"^^xsd:string) "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.4"^^xsd:string) AnnotationAssertion( "MIM:616176"^^xsd:string) AnnotationAssertion( "ORDO:438207"^^xsd:string) AnnotationAssertion( "BDPLT19"^^xsd:string) AnnotationAssertion( "severe autosomal recessive macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111048"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 19"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24325358"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5681484"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:187900"^^xsd:string) AnnotationAssertion( "MESH:C566060"^^xsd:string) AnnotationAssertion( "NCI:C142084"^^xsd:string) AnnotationAssertion( "NCI:C84741"^^xsd:string) AnnotationAssertion( "BDPLT17"^^xsd:string) AnnotationAssertion( "hereditary thrombasthenia-thrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111049"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 17"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Quebec platelet disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18988861"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20007542"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601709"^^xsd:string) AnnotationAssertion( "GARD:8345"^^xsd:string) AnnotationAssertion( "MESH:C536260"^^xsd:string) AnnotationAssertion( "ORDO:220436"^^xsd:string) AnnotationAssertion( "BDPLT5"^^xsd:string) AnnotationAssertion( "Bleeding Disorder, Platelet-Type, 5"^^xsd:string) AnnotationAssertion( "Factor V Quebec"^^xsd:string) AnnotationAssertion( "QPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111050"^^xsd:string) AnnotationAssertion(rdfs:label "Quebec platelet disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24958846"^^xsd:string) "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001378"^^xsd:string) AnnotationAssertion( "MIM:615888"^^xsd:string) AnnotationAssertion( "ORDO:420566"^^xsd:string) AnnotationAssertion( "BDPLT18"^^xsd:string) AnnotationAssertion( "RASGRP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "bleeding disorder due to CalDAG-GEFI deficiency"^^xsd:string) AnnotationAssertion( "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111051"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 18"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Scott syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12669124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21107324"^^xsd:string) "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262890"^^xsd:string) AnnotationAssertion( "OMIA:001353"^^xsd:string) AnnotationAssertion( "EFO:0000204"^^xsd:string) AnnotationAssertion( "GARD:4777"^^xsd:string) AnnotationAssertion( "MESH:C563120"^^xsd:string) AnnotationAssertion( "MONDO:0009885"^^xsd:string) AnnotationAssertion( "ORDO:806"^^xsd:string) AnnotationAssertion( "BDPLT7"^^xsd:string) AnnotationAssertion( "SCTS"^^xsd:string) AnnotationAssertion( "bleeding abnormality due to deficiency of platelet biding of factor X"^^xsd:string) AnnotationAssertion( "familial prothrombin consumption inhibitor"^^xsd:string) AnnotationAssertion( "familial prothrombin conversion defect"^^xsd:string) AnnotationAssertion( "platelet-type bleeding disorder 7"^^xsd:string) AnnotationAssertion( "prothrombin consumption deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111052"^^xsd:string) AnnotationAssertion(rdfs:label "Scott syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23434115"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615193"^^xsd:string) AnnotationAssertion( "ACTN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BDPLT15"^^xsd:string) AnnotationAssertion( "BLEEDING DISORDER, PLATELET-TYPE, 15"^^xsd:string) AnnotationAssertion( "Bleeding disorder platelet type macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111053"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (von Willebrand's disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19630771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3258663"^^xsd:string) "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277480"^^xsd:string) AnnotationAssertion( "OMIA:001058"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.03"^^xsd:string) AnnotationAssertion( "MESH:D056729"^^xsd:string) AnnotationAssertion( "NCI:C85213"^^xsd:string) AnnotationAssertion( "ORDO:166096"^^xsd:string) AnnotationAssertion( "Type 3 VWD"^^xsd:string) AnnotationAssertion( "Type 3 Von Willebrand's Disease"^^xsd:string) AnnotationAssertion( "VWD3"^^xsd:string) AnnotationAssertion( "Von Willebrand disease III"^^xsd:string) AnnotationAssertion( "von Willebrand disease type 3"^^xsd:string) AnnotationAssertion( "von Willebrand disease type III"^^xsd:string) AnnotationAssertion( "von Willebrand disease, severe form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111054"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease 3"^^xsd:string) SubClassOf( ) # Class: (platelet-type bleeding disorder 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26280575"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26769223"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616913"^^xsd:string) AnnotationAssertion( "ORDO:466806"^^xsd:string) AnnotationAssertion( "BDPLT20"^^xsd:string) AnnotationAssertion( "SLFN14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombocytopenia with platelet secretion defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111055"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 20"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2052556"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8486780"^^xsd:string) "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:177820"^^xsd:string) AnnotationAssertion( "MESH:C536458"^^xsd:string) AnnotationAssertion( "ORDO:52530"^^xsd:string) AnnotationAssertion( "BDPLT3"^^xsd:string) AnnotationAssertion( "PT-VWD"^^xsd:string) AnnotationAssertion( "VWDP"^^xsd:string) AnnotationAssertion( "Von Willebrand disease, platelet type"^^xsd:string) AnnotationAssertion( "pseudo-Von Willebrand disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111056"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19549989"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19552682"^^xsd:string) "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614201"^^xsd:string) AnnotationAssertion( "ORDO:98885"^^xsd:string) AnnotationAssertion( "BDPLT11"^^xsd:string) AnnotationAssertion( "GLYCOPROTEIN VI DEFICIENCY"^^xsd:string) AnnotationAssertion( "GP VI DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111057"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet-type bleeding disorder 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8562397"^^xsd:string) "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605735"^^xsd:string) AnnotationAssertion( "MESH:C567786"^^xsd:string) AnnotationAssertion( "BDPLT12"^^xsd:string) AnnotationAssertion( "PGHS1 deficiency"^^xsd:string) AnnotationAssertion( "platelet COX1 deficiency"^^xsd:string) AnnotationAssertion( "platelet cyclooxygenase 1 deficiency"^^xsd:string) AnnotationAssertion( "prostaglandin-endoperoxide synthase 1 deficiency, platelet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111058"^^xsd:string) AnnotationAssertion(rdfs:label "platelet-type bleeding disorder 12"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bernard-Soulier syndrome type A2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11222377"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1730088"^^xsd:string) "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153670"^^xsd:string) AnnotationAssertion( "BSSA2"^^xsd:string) AnnotationAssertion( "Bernard-Soulier Syndrome, Type A2, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111059"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier syndrome type A2"^^xsd:string) SubClassOf( ) # Class: (Ambras type hypertrichosis universalis congenita) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18328202"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8275569"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9712536"^^xsd:string) "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145701"^^xsd:string) AnnotationAssertion( "RDO:0002235"^^xsd:string) AnnotationAssertion( "congenital generalized hypertrichosis"^^xsd:string) AnnotationAssertion( "GARD:8206"^^xsd:string) AnnotationAssertion( "ICD10CM:Q84.2"^^xsd:string) AnnotationAssertion( "MESH:C536605"^^xsd:string) AnnotationAssertion( "ORDO:1023"^^xsd:string) AnnotationAssertion( "Ambras syndrome"^^xsd:string) AnnotationAssertion( "HTC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111060"^^xsd:string) AnnotationAssertion(rdfs:label "Ambras type hypertrichosis universalis congenita"^^xsd:string) SubClassOf( ) # Class: (familial hypobetalipoproteinemia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20942659"^^xsd:string) "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605019"^^xsd:string) AnnotationAssertion( "RDO:0014290"^^xsd:string) AnnotationAssertion( "MESH:C565732"^^xsd:string) AnnotationAssertion( "Fhbl2"^^xsd:string) AnnotationAssertion( "HYPOLIPIDEMIA, FAMILIAL, COMBINED"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia, familial, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111061"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypobetalipoproteinemia 2"^^xsd:string) SubClassOf( ) # Class: (familial hypobetalipoproteinemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3399894"^^xsd:string) "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615558"^^xsd:string) AnnotationAssertion( "RDO:0014668"^^xsd:string) AnnotationAssertion( "APOB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "APOB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566267"^^xsd:string) AnnotationAssertion( "Acanthocytosis with Hypobetalipoproteinemia"^^xsd:string) AnnotationAssertion( "FHBL1"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia, Normotriglyceridemic"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia, familial, associated with apob32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111062"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypobetalipoproteinemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperphosphatemic familial tumoral calcinosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15133511"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15590700"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16151858"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17710231"^^xsd:string) "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)"^^xsd:string) AnnotationAssertion( "familial tumoral calcinosis"^^xsd:string) AnnotationAssertion( "EFO:0009385"^^xsd:string) AnnotationAssertion( "GARD:10879"^^xsd:string) AnnotationAssertion( "ICD10CM:M11.2"^^xsd:string) AnnotationAssertion( "MESH:C538381"^^xsd:string) AnnotationAssertion( "MESH:C566870"^^xsd:string) AnnotationAssertion( "NCI:C131851"^^xsd:string) AnnotationAssertion( "ORDO:306661"^^xsd:string) AnnotationAssertion( "HFTC"^^xsd:string) AnnotationAssertion( "HHS"^^xsd:string) AnnotationAssertion( "Hyperphosphatemia Hyperostosis"^^xsd:string) AnnotationAssertion( "Hyperphosphatemia Tumoral Calcinosis"^^xsd:string) AnnotationAssertion( "Lipocalcinogranulomatosis"^^xsd:string) AnnotationAssertion( "Morbus Teutschlaender"^^xsd:string) AnnotationAssertion( "PHPTC"^^xsd:string) AnnotationAssertion( "cortical hyperostosis with hyperphosphatemia"^^xsd:string) AnnotationAssertion( "familial Teutschlaender disease"^^xsd:string) AnnotationAssertion( "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"^^xsd:string) AnnotationAssertion( "hypercalcemic tumoral calcinosis"^^xsd:string) AnnotationAssertion( "hyperostosis with hyperphosphatemia"^^xsd:string) AnnotationAssertion( "hyperostosis-hyperphosphatemia syndrome"^^xsd:string) AnnotationAssertion( "hyperphosphatemic tumoral calcinosis"^^xsd:string) AnnotationAssertion( "primary hyperphosphatemic tumoral calcinosis"^^xsd:string) AnnotationAssertion( "tumoral calcinosis with hyperphosphatemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111063"^^xsd:string) AnnotationAssertion(rdfs:label "hyperphosphatemic familial tumoral calcinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11528396"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2801766"^^xsd:string) "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003107"^^xsd:string) AnnotationAssertion( "MESH:C536880"^^xsd:string) AnnotationAssertion( "MIM:604320"^^xsd:string) AnnotationAssertion( "MONDO:0018450"^^xsd:string) AnnotationAssertion( "ORDO:98920"^^xsd:string) AnnotationAssertion( "DHMN6"^^xsd:string) AnnotationAssertion( "DSMA1"^^xsd:string) AnnotationAssertion( "HMN VI"^^xsd:string) AnnotationAssertion( "HMN6"^^xsd:string) AnnotationAssertion( "HMNR1"^^xsd:string) AnnotationAssertion( "Hmnvi"^^xsd:string) AnnotationAssertion( "SIANRF"^^xsd:string) AnnotationAssertion( "SMARD1"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy 1"^^xsd:string) AnnotationAssertion( "autosomal recessive spinal muscular atrophy with respiratory distress"^^xsd:string) AnnotationAssertion( "diaphragmatic spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type VI"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VI"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type 6"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy 1"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type 1"^^xsd:string) AnnotationAssertion( "distal-HMN type 6"^^xsd:string) AnnotationAssertion( "severe infantile axonal neuronopathy with respiratory failure"^^xsd:string) AnnotationAssertion( "severe infantile axonal neuropathy with respiratory failure"^^xsd:string) AnnotationAssertion( "severe infantile axonal neuropathy with respiratory failure type 1"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy with respiratory distress"^^xsd:string) AnnotationAssertion( "Spinal muscular atrophy with respiratory distress type 1"^^xsd:string) AnnotationAssertion( "Spinal muscular atrophy with respiratory distress type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111064"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26078401"^^xsd:string) "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605726"^^xsd:string) AnnotationAssertion( "GARD:10133"^^xsd:string) AnnotationAssertion( "MESH:C535715"^^xsd:string) AnnotationAssertion( "ORDO:139552"^^xsd:string) AnnotationAssertion( "DSMA2"^^xsd:string) AnnotationAssertion( "HMNJ"^^xsd:string) AnnotationAssertion( "HMNR2"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy 2"^^xsd:string) AnnotationAssertion( "dHMNJ"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Jerash type"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Jerash type"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 2"^^xsd:string) AnnotationAssertion( "distal motor neuropathy, Jerash type"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy 2"^^xsd:string) AnnotationAssertion( "hereditary motor neuropathy, Jerash type"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, Jerash type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111065"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 2"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25168382"^^xsd:string) "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616278"^^xsd:string) AnnotationAssertion( "ABCD3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CBAS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111066"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 5"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27647924"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27884763"^^xsd:string) "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617308"^^xsd:string) AnnotationAssertion( "MONDO:0015015"^^xsd:string) AnnotationAssertion( "ACOX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CBAS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111067"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 6"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12512044"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5064535"^^xsd:string) "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214950"^^xsd:string) AnnotationAssertion( "GARD:10046"^^xsd:string) AnnotationAssertion( "MESH:C535444"^^xsd:string) AnnotationAssertion( "ORDO:79095"^^xsd:string) AnnotationAssertion( "Cbas4"^^xsd:string) AnnotationAssertion( "Trihydroxycoprostanic acid in bile"^^xsd:string) AnnotationAssertion( "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111068"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital bile acid synthesis defect 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12970144"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3198770"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303"^^xsd:string) "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235555"^^xsd:string) AnnotationAssertion( "GARD:10045"^^xsd:string) AnnotationAssertion( "MESH:C535443"^^xsd:string) AnnotationAssertion( "ORDO:79303"^^xsd:string) AnnotationAssertion( "Bile acid synthesis defect, congenital, 2"^^xsd:string) AnnotationAssertion( "CBAS2"^^xsd:string) AnnotationAssertion( "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"^^xsd:string) AnnotationAssertion( "congenital bile acid synthesis defect type 2 (CBAS2)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111069"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 2"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9802883"^^xsd:string) "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613812"^^xsd:string) AnnotationAssertion( "MESH:C566340"^^xsd:string) AnnotationAssertion( "ORDO:79302"^^xsd:string) AnnotationAssertion( "CBAS3"^^xsd:string) AnnotationAssertion( "Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)"^^xsd:string) AnnotationAssertion( "oxysterol 7-alpha-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111070"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 3"^^xsd:string) SubClassOf( ) # Class: (congenital bile acid synthesis defect 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11067870"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3470305"^^xsd:string) "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607765"^^xsd:string) AnnotationAssertion( "GARD:9813"^^xsd:string) AnnotationAssertion( "MESH:C535442"^^xsd:string) AnnotationAssertion( "ORDO:79301"^^xsd:string) AnnotationAssertion( "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "CBAS1"^^xsd:string) AnnotationAssertion( "Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)"^^xsd:string) AnnotationAssertion( "HSD3B7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "deficiency of 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111071"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bile acid synthesis defect 1"^^xsd:string) SubClassOf( ) # Class: (myostatin-related muscle hypertrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15215484"^^xsd:string) "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614160"^^xsd:string) AnnotationAssertion( "GARD:10238"^^xsd:string) AnnotationAssertion( "MESH:C536106"^^xsd:string) AnnotationAssertion( "ORDO:275534"^^xsd:string) AnnotationAssertion( "MSLHP"^^xsd:string) AnnotationAssertion( "muscle hypertrophy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111072"^^xsd:string) AnnotationAssertion(rdfs:label "myostatin-related muscle hypertrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial heart block) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string) "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566873"^^xsd:string) AnnotationAssertion( "MIM:PS113900"^^xsd:string) AnnotationAssertion( "ORDO:871"^^xsd:string) AnnotationAssertion( "Lenegre Lev disease"^^xsd:string) AnnotationAssertion( "PFHB"^^xsd:string) AnnotationAssertion( "familial Lenegre disease"^^xsd:string) AnnotationAssertion( "familial Lev disease"^^xsd:string) AnnotationAssertion( "familial Lev-Lenegre disease"^^xsd:string) AnnotationAssertion( "familial PCCD"^^xsd:string) AnnotationAssertion( "hereditary bundle branch defect"^^xsd:string) AnnotationAssertion( "hereditary bundle branch system defect"^^xsd:string) AnnotationAssertion( "progressive cardiac conduction defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111073"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial heart block"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial heart block type IA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10471492"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string) "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113900"^^xsd:string) AnnotationAssertion( "NCI:C126651"^^xsd:string) AnnotationAssertion( "PCCD"^^xsd:string) AnnotationAssertion( "PFHB1A"^^xsd:string) AnnotationAssertion( "PFHBIA"^^xsd:string) AnnotationAssertion( "CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE"^^xsd:string) AnnotationAssertion( "HBBD HEART BLOCK, NONPROGRESSIVE"^^xsd:string) AnnotationAssertion( "hereditary bundle branch system defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111074"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial heart block type IA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (progressive familial heart block type II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16086176"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string) "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:140400"^^xsd:string) AnnotationAssertion( "RDO:0013242"^^xsd:string) AnnotationAssertion( "MESH:C564202"^^xsd:string) AnnotationAssertion( "PFHB2"^^xsd:string) AnnotationAssertion( "PFHBII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111075"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial heart block type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive familial heart block type IB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19726882"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/897853"^^xsd:string) "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604559"^^xsd:string) AnnotationAssertion( "TRPM4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TRPM4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567037"^^xsd:string) AnnotationAssertion( "PFHB1B"^^xsd:string) AnnotationAssertion( "PFHBIB"^^xsd:string) AnnotationAssertion( "progressive familial heart block type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111076"^^xsd:string) AnnotationAssertion(rdfs:label "progressive familial heart block type IB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyruvate kinase deficiency of red cells) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1896471"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/728372"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7706479"^^xsd:string) "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266200"^^xsd:string) AnnotationAssertion( "OMIA:000844"^^xsd:string) AnnotationAssertion( "PKLR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7514"^^xsd:string) AnnotationAssertion( "MESH:C564858"^^xsd:string) AnnotationAssertion( "NCI:C99037"^^xsd:string) AnnotationAssertion( "ORDO:766"^^xsd:string) AnnotationAssertion( "PK Deficiency"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to red cell pyruvate kinase deficiency"^^xsd:string) AnnotationAssertion( "pyruvate kinase deficiency"^^xsd:string) AnnotationAssertion( "pyruvate kinase deficiency of erythrocyte"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111077"^^xsd:string) AnnotationAssertion(rdfs:label "pyruvate kinase deficiency of red cells"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tibial muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12145747"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/196233"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8503797"^^xsd:string) "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:600334"^^xsd:string) AnnotationAssertion( "ORDO:609"^^xsd:string) AnnotationAssertion( "Finnish Markesbery muscular dystrophy"^^xsd:string) AnnotationAssertion( "Finnish tibial muscular dystrophy"^^xsd:string) AnnotationAssertion( "TMD"^^xsd:string) AnnotationAssertion( "Udd Markesbery muscular dystrophy"^^xsd:string) AnnotationAssertion( "Udd distal myopathy"^^xsd:string) AnnotationAssertion( "Udd myopathy"^^xsd:string) AnnotationAssertion( "Udd type distal myopathy"^^xsd:string) AnnotationAssertion( "distal titinopathy"^^xsd:string) AnnotationAssertion( "tardive tibial muscular dystrophy"^^xsd:string) AnnotationAssertion( "tibial muscular dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111078"^^xsd:string) AnnotationAssertion(rdfs:label "tibial muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (birdshot chorioretinopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11226280"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16263368"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18214792"^^xsd:string) "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605808"^^xsd:string) AnnotationAssertion( "GARD:5926"^^xsd:string) AnnotationAssertion( "MESH:D000080365"^^xsd:string) AnnotationAssertion( "MONDO:0011599"^^xsd:string) AnnotationAssertion( "ORDO:179"^^xsd:string) AnnotationAssertion( "BSCR"^^xsd:string) AnnotationAssertion( "birdshot chorioretinitis"^^xsd:string) AnnotationAssertion( "birdshot retinochoroiditis"^^xsd:string) AnnotationAssertion( "birdshot retinochoroidopathy"^^xsd:string) AnnotationAssertion( "vitiliginous choroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111079"^^xsd:string) AnnotationAssertion(rdfs:label "birdshot chorioretinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group V) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27500492"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617243"^^xsd:string) AnnotationAssertion( "FANCV"^^xsd:string) AnnotationAssertion( "Fanconi anemia of complementation group V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111080"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group T) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26046368"^^xsd:string) "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616435"^^xsd:string) AnnotationAssertion( "FANCT"^^xsd:string) AnnotationAssertion( "Fanconi anemia of complementation group T"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111081"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group T"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group L) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12973351"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19405097"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614083"^^xsd:string) AnnotationAssertion( "NCI:C164677"^^xsd:string) AnnotationAssertion( "FANCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111082"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group L"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group D2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11239453"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17436244"^^xsd:string) "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227646"^^xsd:string) AnnotationAssertion( "NCI:C125706"^^xsd:string) AnnotationAssertion( "FA4"^^xsd:string) AnnotationAssertion( "FACD"^^xsd:string) AnnotationAssertion( "FAD2"^^xsd:string) AnnotationAssertion( "FANCD"^^xsd:string) AnnotationAssertion( "FANCD2"^^xsd:string) AnnotationAssertion( "Fanconi anemia, complementation group D"^^xsd:string) AnnotationAssertion( "Fanconi pancytopenia, type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111083"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group D2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group E) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11001585"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600901"^^xsd:string) AnnotationAssertion( "NCI:C125709"^^xsd:string) AnnotationAssertion( "FACE"^^xsd:string) AnnotationAssertion( "FANCE"^^xsd:string) AnnotationAssertion( "FANCE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111084"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group U) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22232082"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617247"^^xsd:string) AnnotationAssertion( "FANCU"^^xsd:string) AnnotationAssertion( "Fanconi anemia of complementation group U"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111085"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group U"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9806548"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009046"^^xsd:string) AnnotationAssertion( "MIM:614082"^^xsd:string) AnnotationAssertion( "NCI:C125708"^^xsd:string) AnnotationAssertion( "FANCG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111086"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1574115"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9272737"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227645"^^xsd:string) AnnotationAssertion( "NCI:C125704"^^xsd:string) AnnotationAssertion( "FA3"^^xsd:string) AnnotationAssertion( "FAC"^^xsd:string) AnnotationAssertion( "FACC"^^xsd:string) AnnotationAssertion( "FANCC"^^xsd:string) AnnotationAssertion( "FANCONI ANEMIA, GROUP C"^^xsd:string) AnnotationAssertion( "FANCONI PANCYTOPENIA, TYPE 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111087"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group F) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10615118"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009045"^^xsd:string) AnnotationAssertion( "MIM:603467"^^xsd:string) AnnotationAssertion( "NCI:C125707"^^xsd:string) AnnotationAssertion( "FANCF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111088"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group D1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12065746"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14670928"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605724"^^xsd:string) AnnotationAssertion( "MESH:C563980"^^xsd:string) AnnotationAssertion( "NCI:C125705"^^xsd:string) AnnotationAssertion( "FAD1"^^xsd:string) AnnotationAssertion( "FANCD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111089"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group D1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group R) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26681308"^^xsd:string) "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617244"^^xsd:string) AnnotationAssertion( "FANCR"^^xsd:string) AnnotationAssertion( "Fanconi anemia of complementation group R"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111090"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group R"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17452773"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609053"^^xsd:string) AnnotationAssertion( "MESH:C563802"^^xsd:string) AnnotationAssertion( "NCI:C129026"^^xsd:string) AnnotationAssertion( "FANCI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111091"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group P) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21240275"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21240277"^^xsd:string) "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613951"^^xsd:string) AnnotationAssertion( "FANCP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111092"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group P"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group Q) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23623386"^^xsd:string) "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615272"^^xsd:string) AnnotationAssertion( "FANCQ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111093"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group Q"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group N) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17200671"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17200672"^^xsd:string) "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610832"^^xsd:string) AnnotationAssertion( "MESH:C563657"^^xsd:string) AnnotationAssertion( "NCI:C176894"^^xsd:string) AnnotationAssertion( "FANCN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111094"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group N"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10094191"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9371798"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002144"^^xsd:string) AnnotationAssertion( "EFO:0009044"^^xsd:string) AnnotationAssertion( "MIM:227650"^^xsd:string) AnnotationAssertion( "NCI:C125702"^^xsd:string) AnnotationAssertion( "FANCA"^^xsd:string) AnnotationAssertion( "FANCA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FANCONI ANEMIA, GROUP A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111095"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group O) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20400963"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. (DO)"^^xsd:string) AnnotationAssertion( "RAD51C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613390"^^xsd:string) AnnotationAssertion( "FANCO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111096"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group O"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group J) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16116424"^^xsd:string) "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609054"^^xsd:string) AnnotationAssertion( "MESH:C563801"^^xsd:string) AnnotationAssertion( "NCI:C129027"^^xsd:string) AnnotationAssertion( "FANCJ"^^xsd:string) AnnotationAssertion( "BRIP1-related disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111097"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group J"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia complementation group B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15502827"^^xsd:string) "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300514"^^xsd:string) AnnotationAssertion( "MESH:C564497"^^xsd:string) AnnotationAssertion( "NCI:C125703"^^xsd:string) AnnotationAssertion( "FA2"^^xsd:string) AnnotationAssertion( "FACB"^^xsd:string) AnnotationAssertion( "FANCB"^^xsd:string) AnnotationAssertion( "Fanconi pancytopenia type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111098"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia complementation group B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9294105"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125850"^^xsd:string) AnnotationAssertion( "MESH:C565101"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus Type 2"^^xsd:string) AnnotationAssertion( "MODY, Type 1"^^xsd:string) AnnotationAssertion( "MODY1"^^xsd:string) AnnotationAssertion( "Mild Juvenile Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111099"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 1"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1570017"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125851"^^xsd:string) AnnotationAssertion( "MESH:C564219"^^xsd:string) AnnotationAssertion( "MODY, Glucokinase-Related"^^xsd:string) AnnotationAssertion( "MODY, type 2"^^xsd:string) AnnotationAssertion( "MODY, type II"^^xsd:string) AnnotationAssertion( "MODY2"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111100"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 2"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11085914"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15930087"^^xsd:string) "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137920"^^xsd:string) AnnotationAssertion( "MESH:C535520"^^xsd:string) AnnotationAssertion( "NCI:C123018"^^xsd:string) AnnotationAssertion( "CAKUT WITH DIABETES"^^xsd:string) AnnotationAssertion( "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES"^^xsd:string) AnnotationAssertion( "MODY5"^^xsd:string) AnnotationAssertion( "RCAD"^^xsd:string) AnnotationAssertion( "atypical FJHN"^^xsd:string) AnnotationAssertion( "atypical familial juvenile hyperuricemic nephropathy"^^xsd:string) AnnotationAssertion( "familial hypoplastic glomerulocystic kidney"^^xsd:string) AnnotationAssertion( "glomerulocystic kidney disease, hypoplastic type"^^xsd:string) AnnotationAssertion( "renal cysts and diabetes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111101"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11575290"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7795649"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600496"^^xsd:string) AnnotationAssertion( "MESH:C563933"^^xsd:string) AnnotationAssertion( "MODY, Type 3"^^xsd:string) AnnotationAssertion( "MODY3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111102"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 3"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326926"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606392"^^xsd:string) AnnotationAssertion( "PDX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C563451"^^xsd:string) AnnotationAssertion( "MODY, type 4"^^xsd:string) AnnotationAssertion( "MODY4"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young, type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111103"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 4"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10545951"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606394"^^xsd:string) AnnotationAssertion( "NEUROD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565231"^^xsd:string) AnnotationAssertion( "MODY, type 6"^^xsd:string) AnnotationAssertion( "MODY6"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young, type VI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111104"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 6"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16369531"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609812"^^xsd:string) AnnotationAssertion( "MESH:C565225"^^xsd:string) AnnotationAssertion( "DPED"^^xsd:string) AnnotationAssertion( "Diabetes-Pancreatic Exocrine Dysfunction Syndrome"^^xsd:string) AnnotationAssertion( "MODY type 8"^^xsd:string) AnnotationAssertion( "MODY8"^^xsd:string) AnnotationAssertion( "diabetes and pancreatic exocrine"^^xsd:string) AnnotationAssertion( "diabetes and pancreatic exocrine dysfunction"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young type 8 with exocrine dysfunction"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young, type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111105"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 8"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15774581"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610508"^^xsd:string) AnnotationAssertion( "MESH:C566466"^^xsd:string) AnnotationAssertion( "KLF11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MODY7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111106"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 7"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17426099"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612225"^^xsd:string) AnnotationAssertion( "MESH:C567393"^^xsd:string) AnnotationAssertion( "MODY9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111107"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 9"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18162506"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613370"^^xsd:string) AnnotationAssertion( "RDO:0009825"^^xsd:string) AnnotationAssertion( "MODY10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111108"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 10"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19667185"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613375"^^xsd:string) AnnotationAssertion( "MONDO:0013242"^^xsd:string) AnnotationAssertion( "BLK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MODY11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111109"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 11"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15784703"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-05-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000758"^^xsd:string) AnnotationAssertion( "MIM:616329"^^xsd:string) AnnotationAssertion( "MODY type 13"^^xsd:string) AnnotationAssertion( "MODY13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111110"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 13"^^xsd:string) SubClassOf( ) # Class: (maturity-onset diabetes of the young type 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26073777"^^xsd:string) "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616511"^^xsd:string) AnnotationAssertion( "RDO:9001645"^^xsd:string) AnnotationAssertion( "MODY14"^^xsd:string) AnnotationAssertion( "maturity-onset diabetes of the young-14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111111"^^xsd:string) AnnotationAssertion(rdfs:label "maturity-onset diabetes of the young type 14"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9326933"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9361039"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256100"^^xsd:string) AnnotationAssertion( "RDO:0003581"^^xsd:string) AnnotationAssertion( "MESH:C537699"^^xsd:string) AnnotationAssertion( "NCI:C74998"^^xsd:string) AnnotationAssertion( "NPH1"^^xsd:string) AnnotationAssertion( "NPHP1"^^xsd:string) AnnotationAssertion( "Nephronophthisis, Familial Juvenile"^^xsd:string) AnnotationAssertion( "juvenile nephronophthisis"^^xsd:string) AnnotationAssertion( "juvenile nephronophthisis 1"^^xsd:string) AnnotationAssertion( "type 1 nephronophthisis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111112"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 1"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12872123"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602088"^^xsd:string) AnnotationAssertion( "MESH:C566582"^^xsd:string) AnnotationAssertion( "NPH2"^^xsd:string) AnnotationAssertion( "NPHP2"^^xsd:string) AnnotationAssertion( "infantile nephronophthisis"^^xsd:string) AnnotationAssertion( "infantile nephronophthisis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111113"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 2"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12872122"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604387"^^xsd:string) AnnotationAssertion( "MESH:C565780"^^xsd:string) AnnotationAssertion( "NPH3"^^xsd:string) AnnotationAssertion( "NPHP3"^^xsd:string) AnnotationAssertion( "adolescent nephronophthisis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111114"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 3"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12244321"^^xsd:string) "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606966"^^xsd:string) AnnotationAssertion( "MESH:C564640"^^xsd:string) AnnotationAssertion( "NPHP4"^^xsd:string) AnnotationAssertion( "juvenile nephronophthisis 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111115"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 4"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17618285"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611498"^^xsd:string) AnnotationAssertion( "MESH:C566930"^^xsd:string) AnnotationAssertion( "NPHP7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111116"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 7"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis-like nephropathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20179356"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "nephronophthisis-like nephropathy"^^xsd:string) AnnotationAssertion( "MIM:613159"^^xsd:string) AnnotationAssertion( "NPHPL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111117"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis-like nephropathy 1"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19508969"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613550"^^xsd:string) AnnotationAssertion( "NPHP11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111118"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 11"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21258341"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)"^^xsd:string) AnnotationAssertion( "TTC21B-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613820"^^xsd:string) AnnotationAssertion( "NPHP12"^^xsd:string) AnnotationAssertion( "JBTS11"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111119"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephronophthisis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18199800"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613824"^^xsd:string) AnnotationAssertion( "NPHP9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111120"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 9"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22019273"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614377"^^xsd:string) AnnotationAssertion( "NPHP13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111121"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 13"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22863007"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)"^^xsd:string) AnnotationAssertion( "ZNF423-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614844"^^xsd:string) AnnotationAssertion( "NPHP14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "JBTS19"^^xsd:string) AnnotationAssertion( "JOUBERT SYNDROME 19"^^xsd:string) AnnotationAssertion( "DOID:0111122"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephronophthisis 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22863007"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614845"^^xsd:string) AnnotationAssertion( "NPHP15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111123"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 15"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23793029"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615382"^^xsd:string) AnnotationAssertion( "NPHP16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111124"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 16"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24882706"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615862"^^xsd:string) AnnotationAssertion( "NPHP18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111125"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 18"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25557784"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616217"^^xsd:string) AnnotationAssertion( "NPHP19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111126"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 19"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28089251"^^xsd:string) "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617271"^^xsd:string) AnnotationAssertion( "MONDO:0014997"^^xsd:string) AnnotationAssertion( "NPHP20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111127"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis 20"^^xsd:string) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1429048"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603278"^^xsd:string) AnnotationAssertion( "MESH:C538457"^^xsd:string) AnnotationAssertion( "FSGS1"^^xsd:string) AnnotationAssertion( "focal sclerosis with hyalinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "segmental glomerulosclerosis"^^xsd:string) AnnotationAssertion( "DOID:0111128"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15924139"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603965"^^xsd:string) AnnotationAssertion( "MESH:C565831"^^xsd:string) AnnotationAssertion( "FSGS2"^^xsd:string) AnnotationAssertion( "TRPC6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111129"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20023659"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613237"^^xsd:string) AnnotationAssertion( "INF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567687"^^xsd:string) AnnotationAssertion( "FSGS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111130"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21756023"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614131"^^xsd:string) AnnotationAssertion( "FSGS6"^^xsd:string) AnnotationAssertion( "MYO1E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111131"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24676634"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "PAX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616002"^^xsd:string) AnnotationAssertion( "NCI:C202604"^^xsd:string) AnnotationAssertion( "FSGS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111132"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24676636"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N04.1"^^xsd:string) AnnotationAssertion( "MIM:616032"^^xsd:string) AnnotationAssertion( "ANLN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FSGS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111133"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25557779"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "CRB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616220"^^xsd:string) AnnotationAssertion( "MONDO:0014539"^^xsd:string) AnnotationAssertion( "FSGS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111134"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital generalized lipodystrophy type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11967537"^^xsd:string) "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:84"^^xsd:string) AnnotationAssertion( "MIM:608594"^^xsd:string) AnnotationAssertion( "MONDO:0012071"^^xsd:string) AnnotationAssertion( "AGPAT2-related Brunzell syndrome"^^xsd:string) AnnotationAssertion( "BSCL1"^^xsd:string) AnnotationAssertion( "Berardinelli Seip congenital lipodystrophy type 1"^^xsd:string) AnnotationAssertion( "CGL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111135"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy type 1"^^xsd:string) SubClassOf( ) # Class: (congenital generalized lipodystrophy type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11479539"^^xsd:string) "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10212"^^xsd:string) AnnotationAssertion( "MIM:269700"^^xsd:string) AnnotationAssertion( "Berardinelli-Seip congenital lipodystrophy type 2"^^xsd:string) AnnotationAssertion( "Berardinelli-Seip syndrome"^^xsd:string) AnnotationAssertion( "Berardinelli-Seip syndrome type 2"^^xsd:string) AnnotationAssertion( "Brunzell syndrome BSCL2-related"^^xsd:string) AnnotationAssertion( "CGL2"^^xsd:string) AnnotationAssertion( "total lipodystrophy and acromegaloid gigantism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111136"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy type 2"^^xsd:string) SubClassOf( ) # Class: (congenital generalized lipodystrophy type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18237401"^^xsd:string) "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612526"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.1"^^xsd:string) AnnotationAssertion( "MESH:C567282"^^xsd:string) AnnotationAssertion( "BSCL3"^^xsd:string) AnnotationAssertion( "Berardinelli-Seip Congenital Lipodystrophy, Type 3"^^xsd:string) AnnotationAssertion( "CGL3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111137"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy type 3"^^xsd:string) SubClassOf( ) # Class: (congenital generalized lipodystrophy type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19726876"^^xsd:string) "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10937"^^xsd:string) AnnotationAssertion( "MESH:C567642"^^xsd:string) AnnotationAssertion( "MIM:613327"^^xsd:string) AnnotationAssertion( "MONDO:0013225"^^xsd:string) AnnotationAssertion( "ORDO:228429"^^xsd:string) AnnotationAssertion( "BSCL4"^^xsd:string) AnnotationAssertion( "Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy"^^xsd:string) AnnotationAssertion( "Brunzell syndrome AGPAT2-related"^^xsd:string) AnnotationAssertion( "CGL4"^^xsd:string) AnnotationAssertion( "GCL4"^^xsd:string) AnnotationAssertion( "generalised congenital lipodystrophy type 4"^^xsd:string) AnnotationAssertion( "generalised congenital lipodystrophy with myopathy"^^xsd:string) AnnotationAssertion( "generalized congenital lipodystrophy with myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111138"^^xsd:string) AnnotationAssertion(rdfs:label "congenital generalized lipodystrophy type 4"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex III deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25914718"^^xsd:string) "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8295"^^xsd:string) AnnotationAssertion( "MIM:PS124000"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111139"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex III deficiency"^^xsd:string) SubClassOf( ) # Class: (IGSF1 deficiency syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23143598"^^xsd:string) "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300888"^^xsd:string) AnnotationAssertion( "ORDO:329235"^^xsd:string) AnnotationAssertion( "CHTE"^^xsd:string) AnnotationAssertion( "X-linked central congenital hypothyroidism with late-onset macroorchidism"^^xsd:string) AnnotationAssertion( "X-linked central congenital hypothyroidism with late-onset testicular enlargement"^^xsd:string) AnnotationAssertion( "central hypothyroidism and testicular enlargement"^^xsd:string) AnnotationAssertion( "central hypothyroidism with testicular enlargement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111140"^^xsd:string) AnnotationAssertion(rdfs:label "IGSF1 deficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (delayed sleep phase syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12736803"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17445238"^^xsd:string) "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614163"^^xsd:string) AnnotationAssertion( "DSPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "delayed sleep phase disorder, susceptibility to"^^xsd:string) AnnotationAssertion( "delayed sleep phase syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0111141"^^xsd:string) AnnotationAssertion(rdfs:label "delayed sleep phase syndrome"^^xsd:string) SubClassOf( ) # Class: (oligomeganephronia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9794553"^^xsd:string) "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4066"^^xsd:string) AnnotationAssertion( "ICD10CM:Q60.4"^^xsd:string) AnnotationAssertion( "ORDO:2260"^^xsd:string) AnnotationAssertion( "Oligomeganephronic renal hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111142"^^xsd:string) AnnotationAssertion(rdfs:label "oligomeganephronia"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21874297"^^xsd:string) "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1459"^^xsd:string) AnnotationAssertion( "MIM:PS604273"^^xsd:string) AnnotationAssertion( "ORDO:254913"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type"^^xsd:string) AnnotationAssertion( "mitochondrial complex V (ATP synthase) deficiency, nuclear type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111143"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency"^^xsd:string) SubClassOf( ) # Class: (preterm premature rupture of the membranes) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15715585/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17400872"^^xsd:string) "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610504"^^xsd:string) AnnotationAssertion( "MESH:C563032"^^xsd:string) AnnotationAssertion( "MONDO:0012511"^^xsd:string) AnnotationAssertion( "PPROM"^^xsd:string) AnnotationAssertion( "preterm PROM (pregnancy)"^^xsd:string) AnnotationAssertion( "preterm premature rupture of fetal membranes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111144"^^xsd:string) AnnotationAssertion(rdfs:label "preterm premature rupture of the membranes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureteropelvic junction obstruction) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28695117"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28992643"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29068584"^^xsd:string) "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111145"^^xsd:string) AnnotationAssertion(rdfs:label "ureteropelvic junction obstruction"^^xsd:string) SubClassOf( ) # Class: (acquired von Willebrand syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28028990"^^xsd:string) "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5573"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.04"^^xsd:string) AnnotationAssertion( "ORDO:99147"^^xsd:string) AnnotationAssertion( "AVWS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111146"^^xsd:string) AnnotationAssertion(rdfs:label "acquired von Willebrand syndrome"^^xsd:string) SubClassOf( ) # Class: (angioimmunoblastic T-cell lymphoma) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/"^^xsd:string) Annotation( "https://www.lymphoma.org/aboutlymphoma/nhl/aitl/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22700722"^^xsd:string) "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000255"^^xsd:string) AnnotationAssertion( "GARD:11973"^^xsd:string) AnnotationAssertion( "ICD10CM:C86.5"^^xsd:string) AnnotationAssertion( "ICDO:9705/3"^^xsd:string) AnnotationAssertion( "NCI:C7528"^^xsd:string) AnnotationAssertion( "ORDO:86886"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111147"^^xsd:string) AnnotationAssertion(rdfs:label "angioimmunoblastic T-cell lymphoma"^^xsd:string) SubClassOf( ) # Class: (isolated ectopia lentis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20141359"^^xsd:string) "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q12.1"^^xsd:string) AnnotationAssertion( "ICD9CM:743.37"^^xsd:string) AnnotationAssertion( "MESH:C536184"^^xsd:string) AnnotationAssertion( "NCI:C125484"^^xsd:string) AnnotationAssertion( "NCI:C34566"^^xsd:string) AnnotationAssertion( "ORDO:1885"^^xsd:string) AnnotationAssertion( "IEL"^^xsd:string) AnnotationAssertion( "familial ectopia lentis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111148"^^xsd:string) AnnotationAssertion(rdfs:label "isolated ectopia lentis"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive isolated ectopia lentis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19200529"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20141359"^^xsd:string) "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225100"^^xsd:string) AnnotationAssertion( "ADAMTSL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567124"^^xsd:string) AnnotationAssertion( "ECTOL2"^^xsd:string) AnnotationAssertion( "Isolated Ectopia Lentis, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111149"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive isolated ectopia lentis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant isolated ectopia lentis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15054843"^^xsd:string) "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:129600"^^xsd:string) AnnotationAssertion( "ECTOL1"^^xsd:string) AnnotationAssertion( "autosomal dominant isolated ectopia lentis"^^xsd:string) AnnotationAssertion( "familial ectopia lentis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111150"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant isolated ectopia lentis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prinzmetal angina) AnnotationAssertion(Annotation( "http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28613527"^^xsd:string) "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536421"^^xsd:string) AnnotationAssertion( "EFO:1000013"^^xsd:string) AnnotationAssertion( "MESH:D000788"^^xsd:string) AnnotationAssertion( "Prinzmetal's angina"^^xsd:string) AnnotationAssertion( "Prinzmetal's variant angina"^^xsd:string) AnnotationAssertion( "Prinzmetals angina"^^xsd:string) AnnotationAssertion( "angina inversa"^^xsd:string) AnnotationAssertion( "variant angina"^^xsd:string) AnnotationAssertion( "variant angina pectoris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111151"^^xsd:string) AnnotationAssertion(rdfs:label "Prinzmetal angina"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multicentric Castleman disease) AnnotationAssertion(Annotation( "http://www.bloodjournal.org/content/129/12/1646"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease"^^xsd:string) "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9644"^^xsd:string) AnnotationAssertion( "MESH:C537372"^^xsd:string) AnnotationAssertion( "NCI:C27855"^^xsd:string) AnnotationAssertion( "ORDO:93686"^^xsd:string) AnnotationAssertion( "HHV-8-associated multicentric Castleman disease"^^xsd:string) AnnotationAssertion( "HHV8 Multicentric Castleman Disease"^^xsd:string) AnnotationAssertion( "Idiopathic multicentric Castleman's disease"^^xsd:string) AnnotationAssertion( "KSHV Muticentric Castleman Disease"^^xsd:string) AnnotationAssertion( "KSHV-Associated Multicentric Castleman Disease"^^xsd:string) AnnotationAssertion( "MCD"^^xsd:string) AnnotationAssertion( "Multi-centric Castleman's Disease"^^xsd:string) AnnotationAssertion( "Multicentric Castleman's disease"^^xsd:string) AnnotationAssertion( "Multicentric plasma cell variant of Castleman's disease"^^xsd:string) AnnotationAssertion( "PMCD"^^xsd:string) AnnotationAssertion( "Tafro syndrome"^^xsd:string) AnnotationAssertion( "multicentric giant lymph node hyperplasia"^^xsd:string) AnnotationAssertion( "plasmablastic multicentric Castleman disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111152"^^xsd:string) AnnotationAssertion(rdfs:label "multicentric Castleman disease"^^xsd:string) SubClassOf( ) # Class: (congenital mirror movement disorder) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25763452"^^xsd:string) "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS157600"^^xsd:string) AnnotationAssertion( "ORDO:238722"^^xsd:string) AnnotationAssertion( "familial congenital controlateral synkinesia"^^xsd:string) AnnotationAssertion( "familial congenital mirror movements"^^xsd:string) AnnotationAssertion( "hereditary congenital controlateral synkinesia"^^xsd:string) AnnotationAssertion( "hereditary congenital mirror movements"^^xsd:string) AnnotationAssertion( "isolated congenital controlateral synkinesia"^^xsd:string) AnnotationAssertion( "isolated congenital mirror movements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111153"^^xsd:string) AnnotationAssertion(rdfs:label "congenital mirror movement disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (postural orthostatic tachycardia syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23580201"^^xsd:string) "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9597"^^xsd:string) AnnotationAssertion( "ICD10CM:I95.1"^^xsd:string) AnnotationAssertion( "MESH:D054972"^^xsd:string) AnnotationAssertion( "ORDO:443236"^^xsd:string) AnnotationAssertion( "POTS"^^xsd:string) AnnotationAssertion( "chronic orthostatic intolerance"^^xsd:string) AnnotationAssertion( "familial orthostatic tachycardia due to norepinephrine transporter deficiency"^^xsd:string) AnnotationAssertion( "irritable heart"^^xsd:string) AnnotationAssertion( "orhtostatic intolerance"^^xsd:string) AnnotationAssertion( "orthostatic intolerance"^^xsd:string) AnnotationAssertion( "orthostatic intolerance due to NET deficiency"^^xsd:string) AnnotationAssertion( "postural tachycardia syndrome"^^xsd:string) AnnotationAssertion( "postural tachycardia syndrome due to NET deficiency"^^xsd:string) AnnotationAssertion( "soldiers heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111154"^^xsd:string) AnnotationAssertion(rdfs:label "postural orthostatic tachycardia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26581903"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616719"^^xsd:string) AnnotationAssertion( "NCI:C159655"^^xsd:string) AnnotationAssertion( "ORDO:466794"^^xsd:string) AnnotationAssertion( "CALFAN SYNDROME"^^xsd:string) AnnotationAssertion( "SCAR21"^^xsd:string) AnnotationAssertion( "SCYL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia 21 with hepatopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111155"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 21"^^xsd:string) SubClassOf( ) # Class: (spermatogenic failure 9) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/globozoospermia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10471512"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21397064"^^xsd:string) "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070175"^^xsd:string) AnnotationAssertion( "MIM:613958"^^xsd:string) AnnotationAssertion( "SPGF9"^^xsd:string) AnnotationAssertion( "complete globozoospermia"^^xsd:string) AnnotationAssertion( "total globozoospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111156"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Castleman disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/castlemans-disease/"^^xsd:string) "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0001923"^^xsd:string) AnnotationAssertion( "EFO:1001332"^^xsd:string) AnnotationAssertion( "GARD:12656"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.Z2"^^xsd:string) AnnotationAssertion( "MESH:D005871"^^xsd:string) AnnotationAssertion( "NCI:C3056"^^xsd:string) AnnotationAssertion( "ORDO:160"^^xsd:string) AnnotationAssertion( "Angiofollicular Lymph Hyperplasias"^^xsd:string) AnnotationAssertion( "Angiofollicular Lymph Node Hyperplasia"^^xsd:string) AnnotationAssertion( "Angiofollicular Lymphoid Hyperplasia"^^xsd:string) AnnotationAssertion( "Angiofollicular Lymphoid Hyperplasias"^^xsd:string) AnnotationAssertion( "Castleman Tumor"^^xsd:string) AnnotationAssertion( "Castleman's Disease"^^xsd:string) AnnotationAssertion( "Castleman's Tumor"^^xsd:string) AnnotationAssertion( "Castlemans Disease"^^xsd:string) AnnotationAssertion( "Castlemans Tumor"^^xsd:string) AnnotationAssertion( "GLNH"^^xsd:string) AnnotationAssertion( "angiofollicular lymph hyperplasia"^^xsd:string) AnnotationAssertion( "giant lymph node hyperplasia"^^xsd:string) AnnotationAssertion( "lymphoid hamartoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111157"^^xsd:string) AnnotationAssertion(rdfs:label "Castleman disease"^^xsd:string) SubClassOf( ) # Class: (SADDAN) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/saddan"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10053006"^^xsd:string) "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9443"^^xsd:string) AnnotationAssertion( "MIM:616482"^^xsd:string) AnnotationAssertion( "ORDO:85165"^^xsd:string) AnnotationAssertion( "SADDAN dysplasia"^^xsd:string) AnnotationAssertion( "SADDAN dysplasias"^^xsd:string) AnnotationAssertion( "severe achondroplasia with developmental delay and acanthosis nigricans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111158"^^xsd:string) AnnotationAssertion(rdfs:label "SADDAN"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (partial trisomy distal 4q) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23449628"^^xsd:string) "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0003518"^^xsd:string) AnnotationAssertion( "MESH:C537642"^^xsd:string) AnnotationAssertion( "Dup(4q) Syndrome, Partial"^^xsd:string) AnnotationAssertion( "Duplication 4q Syndrome, Partial"^^xsd:string) AnnotationAssertion( "chromosome 4, partial trisomy 4q"^^xsd:string) AnnotationAssertion( "chromosome 4, partial trisomy distal 4q"^^xsd:string) AnnotationAssertion( "distal 4q trisomy"^^xsd:string) AnnotationAssertion( "partial trisomy 4q syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111159"^^xsd:string) AnnotationAssertion(rdfs:label "partial trisomy distal 4q"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (camptodactyly-tall stature-scoliosis-hearing loss syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17033969"^^xsd:string) "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610474"^^xsd:string) AnnotationAssertion( "MESH:C537975"^^xsd:string) AnnotationAssertion( "ORDO:85164"^^xsd:string) AnnotationAssertion( "CATSHL syndrome"^^xsd:string) AnnotationAssertion( "CATSHLS"^^xsd:string) AnnotationAssertion( "camptodactyly, tall stature, and hearing loss syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111160"^^xsd:string) AnnotationAssertion(rdfs:label "camptodactyly-tall stature-scoliosis-hearing loss syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Crouzon syndrome-acanthosis nigricans syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2650599"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493034"^^xsd:string) "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612247"^^xsd:string) AnnotationAssertion( "MESH:C567382"^^xsd:string) AnnotationAssertion( "ORDO:93262"^^xsd:string) AnnotationAssertion( "CAN"^^xsd:string) AnnotationAssertion( "Crouzon syndrome with acanthosis nigricans"^^xsd:string) AnnotationAssertion( "Crouzon-dermoskeletal syndrome"^^xsd:string) AnnotationAssertion( "Crouzonodermoskeletal Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111161"^^xsd:string) AnnotationAssertion(rdfs:label "Crouzon syndrome-acanthosis nigricans syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (epidermal nevus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7526210"^^xsd:string) "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. (DO)"^^xsd:string) AnnotationAssertion( "MIM:162900"^^xsd:string) AnnotationAssertion( "MESH:C580062"^^xsd:string) AnnotationAssertion( "epidermal naevus"^^xsd:string) AnnotationAssertion( "nonepidermolytic keratinocytic nevus"^^xsd:string) AnnotationAssertion( "NEVUS SEBACEOUS"^^xsd:string) AnnotationAssertion( "NEVUS, WOOLLY HAIR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111162"^^xsd:string) AnnotationAssertion(rdfs:label "epidermal nevus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (molybdenum cofactor deficiency type B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10053004"^^xsd:string) "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:252160"^^xsd:string) AnnotationAssertion( "MESH:C565373"^^xsd:string) AnnotationAssertion( "ORDO:308393"^^xsd:string) AnnotationAssertion( "MOCOD type B"^^xsd:string) AnnotationAssertion( "MOCODB"^^xsd:string) AnnotationAssertion( "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B"^^xsd:string) AnnotationAssertion( "molybdenum cofactor deficiency, complementation group B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111163"^^xsd:string) AnnotationAssertion(rdfs:label "molybdenum cofactor deficiency type B"^^xsd:string) SubClassOf( ) # Class: (molybdenum cofactor deficiency type A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731530"^^xsd:string) "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565372"^^xsd:string) AnnotationAssertion( "MIM:252150"^^xsd:string) AnnotationAssertion( "MONDO:0009643"^^xsd:string) AnnotationAssertion( "ORDO:308386"^^xsd:string) AnnotationAssertion( "MOCOD type A"^^xsd:string) AnnotationAssertion( "MOCODA"^^xsd:string) AnnotationAssertion( "MOCS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"^^xsd:string) AnnotationAssertion( "molybdenum cofactor deficiency, complementation group A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111164"^^xsd:string) AnnotationAssertion(rdfs:label "molybdenum cofactor deficiency type A"^^xsd:string) SubClassOf( ) # Class: (molybdenum cofactor deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10746556"^^xsd:string) "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0001121"^^xsd:string) AnnotationAssertion( "GARD:3705"^^xsd:string) AnnotationAssertion( "MESH:C535811"^^xsd:string) AnnotationAssertion( "MIM:PS252150"^^xsd:string) AnnotationAssertion( "NCI:C129076"^^xsd:string) AnnotationAssertion( "ORDO:99732"^^xsd:string) AnnotationAssertion( "MOCOD"^^xsd:string) AnnotationAssertion( "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111165"^^xsd:string) AnnotationAssertion(rdfs:label "molybdenum cofactor deficiency"^^xsd:string) SubClassOf( ) # Class: (molybdenum cofactor deficiency type C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11095995"^^xsd:string) "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565374"^^xsd:string) AnnotationAssertion( "MIM:615501"^^xsd:string) AnnotationAssertion( "MONDO:0014212"^^xsd:string) AnnotationAssertion( "ORDO:308400"^^xsd:string) AnnotationAssertion( "MOCOD type C"^^xsd:string) AnnotationAssertion( "MOCODC"^^xsd:string) AnnotationAssertion( "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C"^^xsd:string) AnnotationAssertion( "molybdenum cofactor deficiency complementation group C"^^xsd:string) AnnotationAssertion( "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111166"^^xsd:string) AnnotationAssertion(rdfs:label "molybdenum cofactor deficiency type C"^^xsd:string) SubClassOf( ) # Class: (Dyggve-Melchior-Clausen disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12491225"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21032395"^^xsd:string) "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223800"^^xsd:string) AnnotationAssertion( "MIM:304950"^^xsd:string) AnnotationAssertion( "DYM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6295"^^xsd:string) AnnotationAssertion( "MESH:C535726"^^xsd:string) AnnotationAssertion( "NCI:C124844"^^xsd:string) AnnotationAssertion( "DMC"^^xsd:string) AnnotationAssertion( "DMC disease"^^xsd:string) AnnotationAssertion( "Dyggve-Melchior-Clausen syndrome"^^xsd:string) AnnotationAssertion( "Dyggve-Melchior-Clausen syndrome X linked"^^xsd:string) AnnotationAssertion( "pseudo-Morquio disease type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111167"^^xsd:string) AnnotationAssertion(rdfs:label "Dyggve-Melchior-Clausen disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sepiapterin reductase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11443547"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15241655"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22522443"^^xsd:string) "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612716"^^xsd:string) AnnotationAssertion( "RDO:0012274"^^xsd:string) AnnotationAssertion( "GARD:10365"^^xsd:string) AnnotationAssertion( "MESH:C562657"^^xsd:string) AnnotationAssertion( "ORDO:70594"^^xsd:string) AnnotationAssertion( "DRD due to SRD"^^xsd:string) AnnotationAssertion( "SPR deficiency"^^xsd:string) AnnotationAssertion( "SRD"^^xsd:string) AnnotationAssertion( "dopa-responsive dystonia due to sepiapterin reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111168"^^xsd:string) AnnotationAssertion(rdfs:label "sepiapterin reductase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (subcortical band heterotopia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24859200"^^xsd:string) "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600348"^^xsd:string) AnnotationAssertion( "MESH:C538475"^^xsd:string) AnnotationAssertion( "MESH:C563950"^^xsd:string) AnnotationAssertion( "NCI:C116933"^^xsd:string) AnnotationAssertion( "ORDO:99796"^^xsd:string) AnnotationAssertion( "BH"^^xsd:string) AnnotationAssertion( "DC syndrome"^^xsd:string) AnnotationAssertion( "HeCo"^^xsd:string) AnnotationAssertion( "band heterotopia"^^xsd:string) AnnotationAssertion( "band heterotopia of brain"^^xsd:string) AnnotationAssertion( "double cortex"^^xsd:string) AnnotationAssertion( "double cortex syndrome"^^xsd:string) AnnotationAssertion( "heterotopic cortex"^^xsd:string) AnnotationAssertion( "subcortical laminar heterotopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111169"^^xsd:string) AnnotationAssertion(rdfs:label "subcortical band heterotopia"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant sensory ataxia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15286160"^^xsd:string) "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608984"^^xsd:string) AnnotationAssertion( "ADSA"^^xsd:string) AnnotationAssertion( "SNAX1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111170"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant sensory ataxia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (French Canadian Leigh disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12529507"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21266382"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:220111"^^xsd:string) AnnotationAssertion( "GARD:8370"^^xsd:string) AnnotationAssertion( "MESH:C537004"^^xsd:string) AnnotationAssertion( "ORDO:70472"^^xsd:string) AnnotationAssertion( "COX deficiency, Saguenay Lac Saint Jean type"^^xsd:string) AnnotationAssertion( "Cox deficiency, French Canadian type"^^xsd:string) AnnotationAssertion( "LSFC"^^xsd:string) AnnotationAssertion( "Leigh syndrome, French Canadian type"^^xsd:string) AnnotationAssertion( "Leigh syndrome, Saguenay Lac Saint Jean type"^^xsd:string) AnnotationAssertion( "MC4DN5"^^xsd:string) AnnotationAssertion( "cytochrome c oxidase deficiency, French Canadian type"^^xsd:string) AnnotationAssertion( "mitochondrial complex IV deficiency nuclear type 5"^^xsd:string) AnnotationAssertion( "mitochondrial complex IV deficiency nuclear type 5 (French-Canadian)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111180"^^xsd:string) AnnotationAssertion(rdfs:label "French Canadian Leigh disease"^^xsd:string) SubClassOf( ) # Class: (familial hemiplegic migraine 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1388/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8898206"^^xsd:string) "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:141500"^^xsd:string) AnnotationAssertion( "GARD:2638"^^xsd:string) AnnotationAssertion( "MESH:C536890"^^xsd:string) AnnotationAssertion( "NCI:C189277"^^xsd:string) AnnotationAssertion( "FHM"^^xsd:string) AnnotationAssertion( "FHM1"^^xsd:string) AnnotationAssertion( "Familial Hemiplegic Migraine, Type 1"^^xsd:string) AnnotationAssertion( "MHP1"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraine 1 with progressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraine1 with progressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "sporadic hemiplegic migraine"^^xsd:string) AnnotationAssertion( "sporadic hemiplegic migraine with progressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "DOID:0111181"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemiplegic migraine 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hemiplegic migraine 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12539047"^^xsd:string) "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602481"^^xsd:string) AnnotationAssertion( "GARD:10095"^^xsd:string) AnnotationAssertion( "MESH:C537246"^^xsd:string) AnnotationAssertion( "FHM2"^^xsd:string) AnnotationAssertion( "Familial Hemiplegic Migraine, Type 2"^^xsd:string) AnnotationAssertion( "MHP2"^^xsd:string) AnnotationAssertion( "MHP2 MIGRAINE, FAMILIAL BASILAR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111182"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemiplegic migraine 2"^^xsd:string) SubClassOf( ) # Class: (familial hemiplegic migraine 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16054936"^^xsd:string) "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609634"^^xsd:string) AnnotationAssertion( "GARD:10974"^^xsd:string) AnnotationAssertion( "MESH:C566500"^^xsd:string) AnnotationAssertion( "FHM3"^^xsd:string) AnnotationAssertion( "MHP3"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraine, type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111183"^^xsd:string) AnnotationAssertion(rdfs:label "familial hemiplegic migraine 3"^^xsd:string) SubClassOf( ) # Class: (myopathy, lactic acidosis, and sideroblastic anemia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25037980"^^xsd:string) "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500011"^^xsd:string) AnnotationAssertion( "MLASA3"^^xsd:string) AnnotationAssertion( "mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111184"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 3"^^xsd:string) SubClassOf( ) # Class: (myopathy, lactic acidosis, and sideroblastic anemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15108122"^^xsd:string) "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600462"^^xsd:string) AnnotationAssertion( "MLASA1"^^xsd:string) AnnotationAssertion( "PUS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111185"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 1"^^xsd:string) SubClassOf( ) # Class: (myopathy, lactic acidosis, and sideroblastic anemia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20598274"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24344687"^^xsd:string) "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613561"^^xsd:string) AnnotationAssertion( "MLASA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111186"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 2"^^xsd:string) SubClassOf( ) # Class: (distal myopathy with anterior tibial onset) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11198284"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9731526"^^xsd:string) "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606768"^^xsd:string) AnnotationAssertion( "MESH:C564664"^^xsd:string) AnnotationAssertion( "ORDO:178400"^^xsd:string) AnnotationAssertion( "DMAT"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy with anterior tibial onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111187"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy with anterior tibial onset"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15802564"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23486992"^^xsd:string) "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564377"^^xsd:string) AnnotationAssertion( "MESH:C566343"^^xsd:string) AnnotationAssertion( "EFO:0010828"^^xsd:string) AnnotationAssertion( "GARD:12591"^^xsd:string) AnnotationAssertion( "MIM:603689"^^xsd:string) AnnotationAssertion( "ORDO:178464"^^xsd:string) AnnotationAssertion( "Edstrom Myopathy"^^xsd:string) AnnotationAssertion( "HIBM-ERF"^^xsd:string) AnnotationAssertion( "HMERF"^^xsd:string) AnnotationAssertion( "Hereditary Myopathy with Early Respiratory Failure"^^xsd:string) AnnotationAssertion( "MFM-titinopathy"^^xsd:string) AnnotationAssertion( "MFM9"^^xsd:string) AnnotationAssertion( "MPRM"^^xsd:string) AnnotationAssertion( "Myofibrillar Myopathy 9 with Early Respiratory Failure"^^xsd:string) AnnotationAssertion( "distal myopathy with early respiratory failure, autosomal dominant"^^xsd:string) AnnotationAssertion( "hereditary inclusion body myopathy with early respiratory failure"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy-titinopathy"^^xsd:string) AnnotationAssertion( "proximal myopathy with early respiratory muscle involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111188"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal myopathy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34722876/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12847162"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15036327"^^xsd:string) "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610099"^^xsd:string) AnnotationAssertion( "MESH:C566445"^^xsd:string) AnnotationAssertion( "MPD3"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy 3"^^xsd:string) AnnotationAssertion( "distal myopathy type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111189"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal myopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21620354"^^xsd:string) "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614065"^^xsd:string) AnnotationAssertion( "MPD4"^^xsd:string) AnnotationAssertion( "WILLIAMS DISTAL MYOPATHY"^^xsd:string) AnnotationAssertion( "distal ABD-filaminopathy"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy 4"^^xsd:string) AnnotationAssertion( "distal myopathy with posterior leg and anterior hand involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111190"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy 4"^^xsd:string) SubClassOf( ) # Class: (distal myopathy Tateyama type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11805270"^^xsd:string) "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614321"^^xsd:string) AnnotationAssertion( "ORDO:488650"^^xsd:string) AnnotationAssertion( "MPDT"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy Tateyama type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111191"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy Tateyama type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (facioscapulohumeral muscular dystrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1363881"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15154112"^^xsd:string) "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158900"^^xsd:string) AnnotationAssertion( "MESH:C536391"^^xsd:string) AnnotationAssertion( "NCI:C172704"^^xsd:string) AnnotationAssertion( "FSHD1"^^xsd:string) AnnotationAssertion( "FSHD1A"^^xsd:string) AnnotationAssertion( "FSHMD1A"^^xsd:string) AnnotationAssertion( "Facioscapulohumeral Muscular Dystrophy 1A"^^xsd:string) AnnotationAssertion( "Facioscapulohumeral muscular dystrophy, infantile"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy, type 1"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy, type 1a"^^xsd:string) AnnotationAssertion( "FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111192"^^xsd:string) AnnotationAssertion(rdfs:label "facioscapulohumeral muscular dystrophy 1"^^xsd:string) SubClassOf( ) # Class: (facioscapulohumeral muscular dystrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20975055"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23143600"^^xsd:string) "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158901"^^xsd:string) AnnotationAssertion( "SMCHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563557"^^xsd:string) AnnotationAssertion( "NCI:C172705"^^xsd:string) AnnotationAssertion( "FSHD1B"^^xsd:string) AnnotationAssertion( "FSHD2"^^xsd:string) AnnotationAssertion( "FSHD2, digenic"^^xsd:string) AnnotationAssertion( "FSHMD1B"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy 1B"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy 2, digenic"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy, type 1B"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophy, type 2"^^xsd:string) AnnotationAssertion( "weakness of facial musculature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111193"^^xsd:string) AnnotationAssertion(rdfs:label "facioscapulohumeral muscular dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant adult-onset proximal spinal muscular atrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15372378"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7258225"^^xsd:string) "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182980"^^xsd:string) AnnotationAssertion( "MESH:C566673"^^xsd:string) AnnotationAssertion( "ORDO:209335"^^xsd:string) AnnotationAssertion( "Finkel Late-Adult Type SMA"^^xsd:string) AnnotationAssertion( "Finkel disease"^^xsd:string) AnnotationAssertion( "SMAFK"^^xsd:string) AnnotationAssertion( "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE"^^xsd:string) AnnotationAssertion( "Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "autosomal dominant adult-onset proximal SMA"^^xsd:string) AnnotationAssertion( "autosomal dominant late-onset spinal muscular atrophy, Finkel type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111194"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant adult-onset proximal spinal muscular atrophy"^^xsd:string) SubClassOf( ) # Class: (erythrokeratodermia variabilis et progressiva 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12019212"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9843209"^^xsd:string) "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133200"^^xsd:string) AnnotationAssertion( "EKVP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111195"^^xsd:string) AnnotationAssertion(rdfs:label "erythrokeratodermia variabilis et progressiva 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked distal spinal muscular atrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14985388"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20170900"^^xsd:string) "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300489"^^xsd:string) AnnotationAssertion( "MESH:C564506"^^xsd:string) AnnotationAssertion( "ORDO:139557"^^xsd:string) AnnotationAssertion( "ATP7A-related distal motor neuropathy"^^xsd:string) AnnotationAssertion( "DSMAX"^^xsd:string) AnnotationAssertion( "HMNX"^^xsd:string) AnnotationAssertion( "SMAX3"^^xsd:string) AnnotationAssertion( "X-linked dHMN3"^^xsd:string) AnnotationAssertion( "X-linked dSMA3"^^xsd:string) AnnotationAssertion( "X-linked distal hereditary motor neuronopathy"^^xsd:string) AnnotationAssertion( "X-linked distal hereditary motor neuropathy type 3"^^xsd:string) AnnotationAssertion( "X-linked distal spinal muscular atrophy, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111196"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked distal spinal muscular atrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15358725"^^xsd:string) "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS604320"^^xsd:string) AnnotationAssertion( "ORDO:140468"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111197"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15358725"^^xsd:string) "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS182960"^^xsd:string) AnnotationAssertion( "ORDO:140465"^^xsd:string) AnnotationAssertion( "autosomal dominant dHMN"^^xsd:string) AnnotationAssertion( "autosomal dominant distal hereditary motor neuropathy"^^xsd:string) AnnotationAssertion( "autosomal dominant distal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111198"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23141292"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7420092"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111201"^^xsd:string) AnnotationAssertion( "MIM:158580"^^xsd:string) AnnotationAssertion( "MESH:C563562"^^xsd:string) AnnotationAssertion( "ORDO:139589"^^xsd:string) AnnotationAssertion( "DHMN7A"^^xsd:string) AnnotationAssertion( "DHMNVP"^^xsd:string) AnnotationAssertion( "DHMNVPy"^^xsd:string) AnnotationAssertion( "HMN VIIA"^^xsd:string) AnnotationAssertion( "HMN7A"^^xsd:string) AnnotationAssertion( "HMND7"^^xsd:string) AnnotationAssertion( "Harper-Young myopath"^^xsd:string) AnnotationAssertion( "Harper-Young myopathy"^^xsd:string) AnnotationAssertion( "dHMN7"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 7"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 7A"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type VIIA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VIIA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, autosomal dominant 7"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type VIIA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type VIIA"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy with vocal cord paralysis"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy with vocal cord paralysis type 7A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111199"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17354000"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7365507"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182960"^^xsd:string) AnnotationAssertion( "MESH:C566675"^^xsd:string) AnnotationAssertion( "MONDO:0008451"^^xsd:string) AnnotationAssertion( "NCI:C132826"^^xsd:string) AnnotationAssertion( "ORDO:139518"^^xsd:string) AnnotationAssertion( "HMN I"^^xsd:string) AnnotationAssertion( "HMN1"^^xsd:string) AnnotationAssertion( "HMND1"^^xsd:string) AnnotationAssertion( "autosomal dominant distal juvenile spinal muscular atrophy type 1"^^xsd:string) AnnotationAssertion( "dHMN1"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 1"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type 1"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type I"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, juvenile, autosomal dominant, I"^^xsd:string) AnnotationAssertion( "spinal Charcot-Marie-Tooth disease 1"^^xsd:string) AnnotationAssertion( "spinal Charcot-Marie-Tooth disease I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111200"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal dominant distal hereditary motor neuronopathy 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12627231"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607641"^^xsd:string) AnnotationAssertion( "GENETIC MOTOR NEURON DISEASE"^^xsd:string) AnnotationAssertion( "MESH:C564362"^^xsd:string) AnnotationAssertion( "DHMN7B"^^xsd:string) AnnotationAssertion( "HMN VIIB"^^xsd:string) AnnotationAssertion( "HMN7B"^^xsd:string) AnnotationAssertion( "HMND14"^^xsd:string) AnnotationAssertion( "Lower Motor Neuron Disease, Dynactin Type"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 7B"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VIIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, type VIIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type VIIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy with vocal cord paralysis, Harding type VIIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy with vocal cord paralysis, type VIIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type VIIB"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy with vocal cord paralysis type 7B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111202"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 14"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12690580"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22703882"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111204"^^xsd:string) AnnotationAssertion( "MIM:600794"^^xsd:string) AnnotationAssertion( "MESH:C563443"^^xsd:string) AnnotationAssertion( "ORDO:139536"^^xsd:string) AnnotationAssertion( "DHMN VA"^^xsd:string) AnnotationAssertion( "DHMN5"^^xsd:string) AnnotationAssertion( "DHMN5A"^^xsd:string) AnnotationAssertion( "DSMAV"^^xsd:string) AnnotationAssertion( "DSMAVA"^^xsd:string) AnnotationAssertion( "Dhmn-V"^^xsd:string) AnnotationAssertion( "Distal Hereditary Motor Neuronopathy, Type V"^^xsd:string) AnnotationAssertion( "Distal Hereditary Motor Neuropathy, Type V"^^xsd:string) AnnotationAssertion( "Distal Spinal Muscular Atrophy, Type V"^^xsd:string) AnnotationAssertion( "HMN 5A"^^xsd:string) AnnotationAssertion( "HMN V"^^xsd:string) AnnotationAssertion( "HMN VA"^^xsd:string) AnnotationAssertion( "HMN5"^^xsd:string) AnnotationAssertion( "HMN5A"^^xsd:string) AnnotationAssertion( "HMND5"^^xsd:string) AnnotationAssertion( "distal HMN V"^^xsd:string) AnnotationAssertion( "distal HMN VA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 5"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 5A"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type VA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type VA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type VA"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, Harding type V"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, type VA"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, with upper limb predominance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111203"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 5"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal dominant distal hereditary motor neuronopathy 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22703882"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614751"^^xsd:string) AnnotationAssertion( "DHMN VB"^^xsd:string) AnnotationAssertion( "DHMN5B"^^xsd:string) AnnotationAssertion( "DSMAVB"^^xsd:string) AnnotationAssertion( "HMN VB"^^xsd:string) AnnotationAssertion( "HMN5B"^^xsd:string) AnnotationAssertion( "HMND12"^^xsd:string) AnnotationAssertion( "distal HMN VB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 5B"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type VB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type VB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type VB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type VB"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, Harding type VB"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, type VB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111205"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 12"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15122253"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1517763"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111208"^^xsd:string) AnnotationAssertion( "MIM:158590"^^xsd:string) AnnotationAssertion( "MESH:C563561"^^xsd:string) AnnotationAssertion( "ORDO:139525"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Spinal, IIA"^^xsd:string) AnnotationAssertion( "DHMN2A"^^xsd:string) AnnotationAssertion( "DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2"^^xsd:string) AnnotationAssertion( "HMN II"^^xsd:string) AnnotationAssertion( "HMN IIA"^^xsd:string) AnnotationAssertion( "HMN2"^^xsd:string) AnnotationAssertion( "HMN2A"^^xsd:string) AnnotationAssertion( "HMND2"^^xsd:string) AnnotationAssertion( "autosomal dominant adult spinal muscular atrophy IIA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 2"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 2A"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, autosomal dominant 2"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, type IIA"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type II"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type IIA"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, adult autosomal dominant, IIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111206"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18832141"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608634"^^xsd:string) AnnotationAssertion( "HSPB1-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C567084"^^xsd:string) AnnotationAssertion( "DHMN2B"^^xsd:string) AnnotationAssertion( "HMN IIB"^^xsd:string) AnnotationAssertion( "HMN2B"^^xsd:string) AnnotationAssertion( "HMND3"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 2B"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type IIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type 2B"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type IIB"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111207"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (autosomal dominant distal hereditary motor neuronopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20142617"^^xsd:string) "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613376"^^xsd:string) AnnotationAssertion( "DHMN2C"^^xsd:string) AnnotationAssertion( "HMN IIC"^^xsd:string) AnnotationAssertion( "HMN2C"^^xsd:string) AnnotationAssertion( "HMND4"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 2C"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type IIC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, type IIC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type IIC"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal dominant 4"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type IIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111209"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 4"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24207122"^^xsd:string) "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615575"^^xsd:string) AnnotationAssertion( "DHMN2D"^^xsd:string) AnnotationAssertion( "DISTAL HEREDITARY MOTOR NEURONOPATHY 2D"^^xsd:string) AnnotationAssertion( "FBXO38-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HMN IID"^^xsd:string) AnnotationAssertion( "HMN2D"^^xsd:string) AnnotationAssertion( "HMND6"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 2D"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, Harding type IID"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type IID"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, Harding type IID"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy with calf predominance"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy, autosomal dominant, calf-predominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111210"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15054395"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607088"^^xsd:string) AnnotationAssertion( "MESH:C564626"^^xsd:string) AnnotationAssertion( "ORDO:139547"^^xsd:string) AnnotationAssertion( "DHMN3"^^xsd:string) AnnotationAssertion( "DHMN4"^^xsd:string) AnnotationAssertion( "DSMA3"^^xsd:string) AnnotationAssertion( "HMN III"^^xsd:string) AnnotationAssertion( "HMN IV"^^xsd:string) AnnotationAssertion( "HMN3"^^xsd:string) AnnotationAssertion( "HMN4"^^xsd:string) AnnotationAssertion( "HMNR3"^^xsd:string) AnnotationAssertion( "Neuronopathy, Distal Hereditary Motor, Harding Type III"^^xsd:string) AnnotationAssertion( "Neuronopathy, Distal Hereditary Motor, Harding Type IV"^^xsd:string) AnnotationAssertion( "Neuronopathy, Distal Hereditary Motor, Type III"^^xsd:string) AnnotationAssertion( "Neuronopathy, Distal Hereditary Motor, Type IV"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy 3"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy type 3"^^xsd:string) AnnotationAssertion( "dHMN3 and dHMN4"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type 3 and type 4"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type IV"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111211"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 3"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28369220"^^xsd:string) "An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617721"^^xsd:string) AnnotationAssertion( "DHMN9"^^xsd:string) AnnotationAssertion( "HMN9"^^xsd:string) AnnotationAssertion( "HMND9"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 9"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type IX"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy type IX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111212"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 9"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16728649"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17564964"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611067"^^xsd:string) AnnotationAssertion( "GENETIC MOTOR NEURON DISEASE"^^xsd:string) AnnotationAssertion( "PLEKHG5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567023"^^xsd:string) AnnotationAssertion( "ORDO:206580"^^xsd:string) AnnotationAssertion( "DSMA4"^^xsd:string) AnnotationAssertion( "HMNR4"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy 4"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy type 4"^^xsd:string) AnnotationAssertion( "autosomal recessive lower motor neuron disease with childhood onset"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, autosomal recessive 4"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111213"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22522442"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25274842"^^xsd:string) "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614881"^^xsd:string) AnnotationAssertion( "ORDO:314485"^^xsd:string) AnnotationAssertion( "DSMA5"^^xsd:string) AnnotationAssertion( "HMNR5"^^xsd:string) AnnotationAssertion( "autosomal recessive distal hereditary motor neuropathy 5"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy 5"^^xsd:string) AnnotationAssertion( "autosomal recessive distal spinal muscular atrophy type 5"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy type 5"^^xsd:string) AnnotationAssertion( "young adult-onset dHMN"^^xsd:string) AnnotationAssertion( "young adult-onset distal hereditary motor neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111214"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 5"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant distal hereditary motor neuronopathy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20037588"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21336783"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4056805"^^xsd:string) "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600175"^^xsd:string) AnnotationAssertion( "MESH:C563981"^^xsd:string) AnnotationAssertion( "DHMN8"^^xsd:string) AnnotationAssertion( "HMN8"^^xsd:string) AnnotationAssertion( "HMND8"^^xsd:string) AnnotationAssertion( "autosomal dominant benign distal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "autosomal dominant congenital benign spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "congenital benign spinal muscular atrophy with contractures"^^xsd:string) AnnotationAssertion( "congenital nonprogressive distal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "congenital nonprogressive spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy type 8"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuronopathy, type VIII"^^xsd:string) AnnotationAssertion( "distal hereditary motor neuropathy, type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111215"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant distal hereditary motor neuronopathy 8"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive centronuclear myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30103348"^^xsd:string) "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001660"^^xsd:string) AnnotationAssertion( "RDO:0008403"^^xsd:string) AnnotationAssertion( "RDO:0012436"^^xsd:string) AnnotationAssertion( "GARD:12718"^^xsd:string) AnnotationAssertion( "MESH:C562934"^^xsd:string) AnnotationAssertion( "ORDO:169186"^^xsd:string) AnnotationAssertion( "AR-CNM"^^xsd:string) AnnotationAssertion( "centronuclear myopathy, recessive"^^xsd:string) AnnotationAssertion( "myotubular myopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111216"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive centronuclear myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant centronuclear myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30103348"^^xsd:string) "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12719"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.228"^^xsd:string) AnnotationAssertion( "ORDO:169189"^^xsd:string) AnnotationAssertion( "AD-CNM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF"^^xsd:string) AnnotationAssertion( "DOID:0111217"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant centronuclear myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Friedreich ataxia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10500204"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10543403"^^xsd:string) "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:229300"^^xsd:string) AnnotationAssertion( "MESH:C565561"^^xsd:string) AnnotationAssertion( "FA1"^^xsd:string) AnnotationAssertion( "FRDA"^^xsd:string) AnnotationAssertion( "FRDA1"^^xsd:string) AnnotationAssertion( "FARR"^^xsd:string) AnnotationAssertion( "Friedreich ataxia with retained reflexes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111218"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich ataxia 1"^^xsd:string) SubClassOf( ) # Class: (Friedreich ataxia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11523563"^^xsd:string) "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601992"^^xsd:string) AnnotationAssertion( "MESH:C566594"^^xsd:string) AnnotationAssertion( "FRDA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111219"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich ataxia 2"^^xsd:string) SubClassOf( ) # Class: (centronuclear myopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17676042"^^xsd:string) "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:255200"^^xsd:string) AnnotationAssertion( "CNM2"^^xsd:string) AnnotationAssertion( "autosomal recessive centronuclear myopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111220"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (centronuclear myopathy 6 with fiber-type disproportion) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27816943"^^xsd:string) "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617760"^^xsd:string) AnnotationAssertion( "CNM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111221"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy 6 with fiber-type disproportion"^^xsd:string) SubClassOf( ) # Class: (centronuclear myopathy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25087613"^^xsd:string) "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615959"^^xsd:string) AnnotationAssertion( "CNM5"^^xsd:string) AnnotationAssertion( "SPEG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111222"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy 5"^^xsd:string) SubClassOf( ) # Class: (centronuclear myopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16227997"^^xsd:string) "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160150"^^xsd:string) AnnotationAssertion( "NCI:C126689"^^xsd:string) AnnotationAssertion( "CNM1"^^xsd:string) AnnotationAssertion( "centronuclear myopathy, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CNM3"^^xsd:string) AnnotationAssertion( "centronuclear myopathy 3"^^xsd:string) AnnotationAssertion( "DOID:0111223"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (centronuclear myopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22818856"^^xsd:string) "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614807"^^xsd:string) AnnotationAssertion( "CNM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111224"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (centronuclear myopathy X-linked) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8640223"^^xsd:string) "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001508"^^xsd:string) AnnotationAssertion( "GARD:11925"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.220"^^xsd:string) AnnotationAssertion( "MIM:310400"^^xsd:string) AnnotationAssertion( "NCI:C118781"^^xsd:string) AnnotationAssertion( "CNMX"^^xsd:string) AnnotationAssertion( "MTMX"^^xsd:string) AnnotationAssertion( "X-linked myotubular myopathies"^^xsd:string) AnnotationAssertion( "X-linked myotubular myopathy"^^xsd:string) AnnotationAssertion( "XLCNM"^^xsd:string) AnnotationAssertion( "XLMTM"^^xsd:string) AnnotationAssertion( "SEVERE X-LINKED MYOTUBULAR MYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111225"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy X-linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked congenital myopathy with fiber-type disproportion) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16173074"^^xsd:string) "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300580"^^xsd:string) AnnotationAssertion( "MESH:C567594"^^xsd:string) AnnotationAssertion( "CFTDX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111226"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked congenital myopathy with fiber-type disproportion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia and/or amyotrophic lateral sclerosis 7) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1199/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16041373"^^xsd:string) "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0060208"^^xsd:string) AnnotationAssertion( "MESH:C563708"^^xsd:string) AnnotationAssertion( "MIM:600795"^^xsd:string) AnnotationAssertion( "MIM:614696"^^xsd:string) AnnotationAssertion( "CHMP2B-related condition"^^xsd:string) AnnotationAssertion( "MESH:C579991"^^xsd:string) AnnotationAssertion( "ALS17 (FORMERLY)"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)"^^xsd:string) AnnotationAssertion( "CHMP2B-RELATED"^^xsd:string) AnnotationAssertion( "CHMP2B-related amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "CHMP2B-related frontotemporal dementia"^^xsd:string) AnnotationAssertion( "DEM"^^xsd:string) AnnotationAssertion( "DMT1"^^xsd:string) AnnotationAssertion( "DTM1"^^xsd:string) AnnotationAssertion( "FTD-3"^^xsd:string) AnnotationAssertion( "FTD-CHMP2B"^^xsd:string) AnnotationAssertion( "FTD3"^^xsd:string) AnnotationAssertion( "FTDALS7"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis type 17"^^xsd:string) AnnotationAssertion( "chromosome 3-linked frontotemporal dementia"^^xsd:string) AnnotationAssertion( "familial nonspecific dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALS17"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis 17"^^xsd:string) AnnotationAssertion( "DOID:0111227"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 7"^^xsd:string) SubClassOf( ) # Class: (Sveinsson chorioretinal atrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15016762"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/419979"^^xsd:string) "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108985"^^xsd:string) AnnotationAssertion( "MESH:C566236"^^xsd:string) AnnotationAssertion( "ORDO:86813"^^xsd:string) AnnotationAssertion( "AA"^^xsd:string) AnnotationAssertion( "HPCD"^^xsd:string) AnnotationAssertion( "SCRA"^^xsd:string) AnnotationAssertion( "atrophia areata"^^xsd:string) AnnotationAssertion( "helicoid peripapillary chorioretinal degeneration"^^xsd:string) AnnotationAssertion( "helicoidal peripapillary chorioretinal degeneration"^^xsd:string) AnnotationAssertion( "peripapillary chorioretinal degeneration, Icelandic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Sveinsson choreoretinal atrophy"^^xsd:string) AnnotationAssertion( "DOID:0111228"^^xsd:string) AnnotationAssertion(rdfs:label "Sveinsson chorioretinal atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23453667"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS236670"^^xsd:string) AnnotationAssertion( "ORDO:352687"^^xsd:string) AnnotationAssertion( "MDDGA"^^xsd:string) AnnotationAssertion( "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"^^xsd:string) AnnotationAssertion( "klissencephaly type 2 with muscular and ocular involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111229"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23453667"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615181"^^xsd:string) AnnotationAssertion( "MDDGA11"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111230"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A11"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22958903"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000583"^^xsd:string) AnnotationAssertion( "MIM:614830"^^xsd:string) AnnotationAssertion( "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8"^^xsd:string) AnnotationAssertion( "MDDGA8"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8"^^xsd:string) AnnotationAssertion( "WALKER-WARBURG SYNDROME, GTDC2-RELATED"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111231"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A8"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24052401"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001467"^^xsd:string) AnnotationAssertion( "MIM:616538"^^xsd:string) AnnotationAssertion( "MDDGA9"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), type A, 9"^^xsd:string) AnnotationAssertion( "WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111232"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A9"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy A14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23768512"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615350"^^xsd:string) AnnotationAssertion( "MDDGA14"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111233"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy A14"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy A7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22522420"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)"^^xsd:string) AnnotationAssertion( "ISPD-related disorder"^^xsd:string) AnnotationAssertion( "MIM:614643"^^xsd:string) AnnotationAssertion( "MDDGA7"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111234"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy A7"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23519211"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615249"^^xsd:string) AnnotationAssertion( "MDDGA12"^^xsd:string) AnnotationAssertion( "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111235"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A12"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11709191"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253280"^^xsd:string) AnnotationAssertion( "MONDO:0009667"^^xsd:string) AnnotationAssertion( "NCI:C126740"^^xsd:string) AnnotationAssertion( "MDDGA3"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111236"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A3"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12369018"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236670"^^xsd:string) AnnotationAssertion( "NCI:C128118"^^xsd:string) AnnotationAssertion( "COD MD syndrome"^^xsd:string) AnnotationAssertion( "COD-MD syndromes"^^xsd:string) AnnotationAssertion( "HARD syndrome"^^xsd:string) AnnotationAssertion( "HARD syndromes"^^xsd:string) AnnotationAssertion( "MDDGA1"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related"^^xsd:string) AnnotationAssertion( "cerebroocular dysplasia-muscular dystrophy syndrome"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type A1"^^xsd:string) AnnotationAssertion( "hydrocephalus, agyria, and retinal dysplasia"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111237"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A1"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23359570"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000895"^^xsd:string) AnnotationAssertion( "MIM:615287"^^xsd:string) AnnotationAssertion( "MDDGA13"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111238"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A13"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23217329"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9000580"^^xsd:string) AnnotationAssertion( "MIM:615041"^^xsd:string) AnnotationAssertion( "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10"^^xsd:string) AnnotationAssertion( "MDDGA10"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111239"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A10"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15894594"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613150"^^xsd:string) AnnotationAssertion( "NCI:C126742"^^xsd:string) AnnotationAssertion( "MDDGA2"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111240"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A2"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15121789"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613153"^^xsd:string) AnnotationAssertion( "MDDGA5"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111241"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A5"^^xsd:string) SubClassOf( ) # Class: (congenital muscular dystrophy-dystroglycanopathy type A6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17436019"^^xsd:string) "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613154"^^xsd:string) AnnotationAssertion( "NCI:C126743"^^xsd:string) AnnotationAssertion( "MDDGA6"^^xsd:string) AnnotationAssertion( "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111242"^^xsd:string) AnnotationAssertion(rdfs:label "congenital muscular dystrophy-dystroglycanopathy type A6"^^xsd:string) SubClassOf( ) # Class: (acromicric dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3728563"^^xsd:string) "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:102370"^^xsd:string) AnnotationAssertion( "GARD:7"^^xsd:string) AnnotationAssertion( "MESH:C535662"^^xsd:string) AnnotationAssertion( "ORDO:969"^^xsd:string) AnnotationAssertion( "ACMICD"^^xsd:string) AnnotationAssertion( "acromicric skeletal dysplasia"^^xsd:string) AnnotationAssertion( "geleophysic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111243"^^xsd:string) AnnotationAssertion(rdfs:label "acromicric dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palmoplantar keratoderma and congenital alopecia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20635335"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25168385"^^xsd:string) "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)"^^xsd:string) AnnotationAssertion( "GARD:604"^^xsd:string) AnnotationAssertion( "MIM:104100"^^xsd:string) AnnotationAssertion( "ORDO:1010"^^xsd:string) AnnotationAssertion( "PPK-CA, Stevanovic type"^^xsd:string) AnnotationAssertion( "PPKCA, Stevanovic type"^^xsd:string) AnnotationAssertion( "PPKCA1"^^xsd:string) AnnotationAssertion( "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"^^xsd:string) AnnotationAssertion( "autosomal dominant palmoplantar keratoderma and congenital alopecia"^^xsd:string) AnnotationAssertion( "keratoderma-hypotrichosis-leukonychia totalis syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma and congenital alopecia, Stevanovic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111244"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratoderma and congenital alopecia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (palmoplantar keratoderma and congenital alopecia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20635335"^^xsd:string) "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212360"^^xsd:string) AnnotationAssertion( "MESH:C535336"^^xsd:string) AnnotationAssertion( "ORDO:1366"^^xsd:string) AnnotationAssertion( "CASS"^^xsd:string) AnnotationAssertion( "PPK-CA, Wallis type"^^xsd:string) AnnotationAssertion( "PPKCA Wallis type"^^xsd:string) AnnotationAssertion( "PPKCA2"^^xsd:string) AnnotationAssertion( "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia"^^xsd:string) AnnotationAssertion( "autosomal recessive palmoplantar keratoderma and congenital alopecia"^^xsd:string) AnnotationAssertion( "cataract, alopecia, sclerodactyly"^^xsd:string) AnnotationAssertion( "cataract-alopecia-sclerodactyly syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma and congenital alopecia, Wallis type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111245"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratoderma and congenital alopecia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis-parkinsonism/dementia complex 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16051700"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5770171"^^xsd:string) "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9239"^^xsd:string) AnnotationAssertion( "MIM:105500"^^xsd:string) AnnotationAssertion( "ORDO:90020"^^xsd:string) AnnotationAssertion( "ALS-PDC"^^xsd:string) AnnotationAssertion( "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome"^^xsd:string) AnnotationAssertion( "Guam PD"^^xsd:string) AnnotationAssertion( "Guam disease"^^xsd:string) AnnotationAssertion( "Guam form of amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "Lytico-Bodig disease"^^xsd:string) AnnotationAssertion( "PDALS"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, Guam form"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis, parkinsonism, dementia complex of Guam"^^xsd:string) AnnotationAssertion( "parkinsonism-dementia of Guam"^^xsd:string) AnnotationAssertion( "parkinsonism-dementia-ALS complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111246"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypertension and brachydactyly syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25961942"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4774535"^^xsd:string) "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:112410"^^xsd:string) AnnotationAssertion( "GARD:967"^^xsd:string) AnnotationAssertion( "MESH:C537095"^^xsd:string) AnnotationAssertion( "ORDO:1276"^^xsd:string) AnnotationAssertion( "Bilginturan brachydactyly"^^xsd:string) AnnotationAssertion( "Bilginturan syndrome"^^xsd:string) AnnotationAssertion( "HTNB"^^xsd:string) AnnotationAssertion( "brachydactyly type E with short stature and hypertension"^^xsd:string) AnnotationAssertion( "brachydactyly with hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111247"^^xsd:string) AnnotationAssertion(rdfs:label "hypertension and brachydactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebrocostomandibular syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19008299"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25047197"^^xsd:string) "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117650"^^xsd:string) AnnotationAssertion( "GARD:6026"^^xsd:string) AnnotationAssertion( "MESH:C562538"^^xsd:string) AnnotationAssertion( "ORDO:1393"^^xsd:string) AnnotationAssertion( "CCM syndrome"^^xsd:string) AnnotationAssertion( "CCMS"^^xsd:string) AnnotationAssertion( "cerebro-costo-mandibular syndrome"^^xsd:string) AnnotationAssertion( "cerebrocostomandibular-like syndrome"^^xsd:string) AnnotationAssertion( "rib gap defects with micrognathia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111248"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrocostomandibular syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uveal coloboma-cleft lip and palate-intellectual disability) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24462371"^^xsd:string) "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535971"^^xsd:string) AnnotationAssertion( "MIM:120433"^^xsd:string) AnnotationAssertion( "GARD:1440"^^xsd:string) AnnotationAssertion( "MESH:C565173"^^xsd:string) AnnotationAssertion( "ORDO:1473"^^xsd:string) AnnotationAssertion( "COB1"^^xsd:string) AnnotationAssertion( "YAP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "coloboma, cleft lip/palate and mental retardation syndrome"^^xsd:string) AnnotationAssertion( "coloboma-microphthalmos syndrome"^^xsd:string) AnnotationAssertion( "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate"^^xsd:string) AnnotationAssertion( "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development"^^xsd:string) AnnotationAssertion( "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation"^^xsd:string) AnnotationAssertion( "uveal coloboma, with cleft lip and palate and mental retardation"^^xsd:string) AnnotationAssertion( "uveal coloboma-cleft lip/palate-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111249"^^xsd:string) AnnotationAssertion(rdfs:label "uveal coloboma-cleft lip and palate-intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14663042"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9500549"^^xsd:string) "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566552"^^xsd:string) AnnotationAssertion( "MIM:602404"^^xsd:string) AnnotationAssertion( "MESH:C537176"^^xsd:string) AnnotationAssertion( "PARK3"^^xsd:string) AnnotationAssertion( "Parkinson disease 3"^^xsd:string) AnnotationAssertion( "Parkinson disease 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "Parkinson disease 3, autosomal dominant Lewy body"^^xsd:string) AnnotationAssertion( "Parkinson's disease 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "Parkinson's disease 3, autosomal dominant Lewy body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111250"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's disease 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24218364"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27270108"^^xsd:string) "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616361"^^xsd:string) AnnotationAssertion( "MONDO:0014604"^^xsd:string) AnnotationAssertion( "PARK21"^^xsd:string) AnnotationAssertion( "Parkinson disease 21"^^xsd:string) AnnotationAssertion( "Parkinson disease type 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111251"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vestibular schwannomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35674741/"^^xsd:string) "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101000"^^xsd:string) AnnotationAssertion( "EFO:0004122"^^xsd:string) AnnotationAssertion( "GARD:7193"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.02"^^xsd:string) AnnotationAssertion( "ICD9CM:237.72"^^xsd:string) AnnotationAssertion( "MESH:D016518"^^xsd:string) AnnotationAssertion( "MONDO:0007039"^^xsd:string) AnnotationAssertion( "NCI:C3274"^^xsd:string) AnnotationAssertion( "ORDO:637"^^xsd:string) AnnotationAssertion( "ACN"^^xsd:string) AnnotationAssertion( "BANF"^^xsd:string) AnnotationAssertion( "BILATERAL VESTIBULAR SCHWANNOMA"^^xsd:string) AnnotationAssertion( "Bilateral Acoustic Neurinoma"^^xsd:string) AnnotationAssertion( "Bilateral Acoustic Neurofibromatosis"^^xsd:string) AnnotationAssertion( "Bilateral Acoustic Schwannoma"^^xsd:string) AnnotationAssertion( "Central NF2 Neurofibromatoses"^^xsd:string) AnnotationAssertion( "Central NF2 Neurofibromatosis"^^xsd:string) AnnotationAssertion( "Central Neurofibromatosis"^^xsd:string) AnnotationAssertion( "Familial Acoustic Neuroma"^^xsd:string) AnnotationAssertion( "Familial Acoustic Neuromas"^^xsd:string) AnnotationAssertion( "NF2"^^xsd:string) AnnotationAssertion( "NF2 (neurofibromatosis 2)"^^xsd:string) AnnotationAssertion( "NF2-related schwannomatosis"^^xsd:string) AnnotationAssertion( "Neurofibromatosis II"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type 2"^^xsd:string) AnnotationAssertion( "Neurofibromatosis, Central, NF 2"^^xsd:string) AnnotationAssertion( "Neurofibromatosis, central type"^^xsd:string) AnnotationAssertion( "SWN3"^^xsd:string) AnnotationAssertion( "SWNV"^^xsd:string) AnnotationAssertion( "acoustic neurofibromatosis"^^xsd:string) AnnotationAssertion( "bilateral acoustic neurinomas"^^xsd:string) AnnotationAssertion( "bilateral acoustic neurofibromatoses"^^xsd:string) AnnotationAssertion( "bilateral acoustic neuroma"^^xsd:string) AnnotationAssertion( "bilateral acoustic schwannomas"^^xsd:string) AnnotationAssertion( "central neurofibromatoses"^^xsd:string) AnnotationAssertion( "neurofibromatosis 2"^^xsd:string) AnnotationAssertion( "neurofibromatosis type II"^^xsd:string) AnnotationAssertion( "schwannomatosis 3"^^xsd:string) AnnotationAssertion( "type 2 neurofibromatoses"^^xsd:string) AnnotationAssertion( "type II neurofibromatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111252"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular schwannomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurofibromatosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34012067/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35698197/"^^xsd:string) "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:162200"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.01"^^xsd:string) AnnotationAssertion( "ICD9CM:237.71"^^xsd:string) AnnotationAssertion( "MESH:D009456"^^xsd:string) AnnotationAssertion( "NCI:C3273"^^xsd:string) AnnotationAssertion( "ORDO:636"^^xsd:string) AnnotationAssertion( "NF1"^^xsd:string) AnnotationAssertion( "NF1 (neurofibromatosis 1)"^^xsd:string) AnnotationAssertion( "Recklinghausen disease of nerve"^^xsd:string) AnnotationAssertion( "Recklinghausen disease, nerve"^^xsd:string) AnnotationAssertion( "Recklinghausen's disease of nerve"^^xsd:string) AnnotationAssertion( "Recklinghausen's neurofibromatosis"^^xsd:string) AnnotationAssertion( "Recklinghausens disease of nerve"^^xsd:string) AnnotationAssertion( "molluscum fibrosum"^^xsd:string) AnnotationAssertion( "neurofibromatoses type I"^^xsd:string) AnnotationAssertion( "neurofibromatosis I"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 1"^^xsd:string) AnnotationAssertion( "neurofibromatosis type I"^^xsd:string) AnnotationAssertion( "peripheral neurofibromatoses"^^xsd:string) AnnotationAssertion( "peripheral neurofibromatosis"^^xsd:string) AnnotationAssertion( "peripheral neurofibromatosis, NF 1"^^xsd:string) AnnotationAssertion( "peripheral neurofibromatosis, NF1"^^xsd:string) AnnotationAssertion( "peripheral type neurofibromatosis"^^xsd:string) AnnotationAssertion( "von Recklinghausen disease"^^xsd:string) AnnotationAssertion( "von Recklinghausen's disease"^^xsd:string) AnnotationAssertion( "von Recklinghausens disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111253"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibromatosis 1"^^xsd:string) SubClassOf( ) # Class: (glutaric acidemia I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16602100"^^xsd:string) "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231670"^^xsd:string) AnnotationAssertion( "GARD:6522"^^xsd:string) AnnotationAssertion( "MESH:C536833"^^xsd:string) AnnotationAssertion( "NCI:C99101"^^xsd:string) AnnotationAssertion( "ORDO:25"^^xsd:string) AnnotationAssertion( "GA I"^^xsd:string) AnnotationAssertion( "GA1"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia Type 1"^^xsd:string) AnnotationAssertion( "Glutaric Acidemia Type I"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria I"^^xsd:string) AnnotationAssertion( "glutaric academia type 1"^^xsd:string) AnnotationAssertion( "glutaric acidemia 1"^^xsd:string) AnnotationAssertion( "glutaric aciduria 1"^^xsd:string) AnnotationAssertion( "glutaric aciduria type 1"^^xsd:string) AnnotationAssertion( "glutaric aciduria type I"^^xsd:string) AnnotationAssertion( "glutaryl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "glutaryl-coenzyme A dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111254"^^xsd:string) AnnotationAssertion(rdfs:label "glutaric acidemia I"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (McKusick-Kaufman syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10802661"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21044901"^^xsd:string) "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236700"^^xsd:string) AnnotationAssertion( "MKKS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3427"^^xsd:string) AnnotationAssertion( "MESH:C538159"^^xsd:string) AnnotationAssertion( "ORDO:2473"^^xsd:string) AnnotationAssertion( "HMCS"^^xsd:string) AnnotationAssertion( "MKKS"^^xsd:string) AnnotationAssertion( "hydrometrocolpos syndrome"^^xsd:string) AnnotationAssertion( "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation"^^xsd:string) AnnotationAssertion( "hydrometrocolpos-postaxial polydactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111255"^^xsd:string) AnnotationAssertion(rdfs:label "McKusick-Kaufman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperferritinemia-cataract syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493028"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7669675"^^xsd:string) "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600886"^^xsd:string) AnnotationAssertion( "GARD:2806"^^xsd:string) AnnotationAssertion( "MESH:C538137"^^xsd:string) AnnotationAssertion( "ORDO:163"^^xsd:string) AnnotationAssertion( "Bonneau-Beaumont syndrome"^^xsd:string) AnnotationAssertion( "HHCS"^^xsd:string) AnnotationAssertion( "HRFTC"^^xsd:string) AnnotationAssertion( "dominant hyperferritinemia and cataract"^^xsd:string) AnnotationAssertion( "hereditary hyperferritinemia with congenital cataracts"^^xsd:string) AnnotationAssertion( "hereditary hyperferritinemia-cataract syndrome"^^xsd:string) AnnotationAssertion( "hyperferritinemia with or without cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111256"^^xsd:string) AnnotationAssertion(rdfs:label "hyperferritinemia-cataract syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gamma-glutamyl transpeptidase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29483667"^^xsd:string) "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231950"^^xsd:string) AnnotationAssertion( "GARD:10099"^^xsd:string) AnnotationAssertion( "MESH:C536836"^^xsd:string) AnnotationAssertion( "ORDO:33573"^^xsd:string) AnnotationAssertion( "GGT DEFICIENCY"^^xsd:string) AnnotationAssertion( "GGT1 deficiency"^^xsd:string) AnnotationAssertion( "GTG deficiency"^^xsd:string) AnnotationAssertion( "Gamma-glutamyltranspeptidase deficiency"^^xsd:string) AnnotationAssertion( "Glutathionuria"^^xsd:string) AnnotationAssertion( "gamma-glutamyl transferase deficiency"^^xsd:string) AnnotationAssertion( "gamma-glutamyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111257"^^xsd:string) AnnotationAssertion(rdfs:label "gamma-glutamyl transpeptidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pentosuria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22042873"^^xsd:string) "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008597"^^xsd:string) AnnotationAssertion( "MIM:260800"^^xsd:string) AnnotationAssertion( "GARD:418"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.89"^^xsd:string) AnnotationAssertion( "MESH:C536652"^^xsd:string) AnnotationAssertion( "ORDO:2843"^^xsd:string) AnnotationAssertion( "L-Xylulose reductase deficiency"^^xsd:string) AnnotationAssertion( "L-Xylulosuria"^^xsd:string) AnnotationAssertion( "PNTSU"^^xsd:string) AnnotationAssertion( "essential pentosuria"^^xsd:string) AnnotationAssertion( "xylitol dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111258"^^xsd:string) AnnotationAssertion(rdfs:label "pentosuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (postaxial acrofacial dysostosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19915526"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/501501"^^xsd:string) "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:263750"^^xsd:string) AnnotationAssertion( "GARD:8410"^^xsd:string) AnnotationAssertion( "MESH:C537680"^^xsd:string) AnnotationAssertion( "ORDO:246"^^xsd:string) AnnotationAssertion( "Genee-Wiedemann acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "Genee-Wiedemann syndrome"^^xsd:string) AnnotationAssertion( "Miller syndrome"^^xsd:string) AnnotationAssertion( "POADS"^^xsd:string) AnnotationAssertion( "POADS syndrome"^^xsd:string) AnnotationAssertion( "Wildervanck-Smith syndrome"^^xsd:string) AnnotationAssertion( "acrofacial dysostosis, Genee-Wiedmann type"^^xsd:string) AnnotationAssertion( "mandibulfacial dysostosis with postaxial limb anomalies"^^xsd:string) AnnotationAssertion( "postaxial acrodysostosis"^^xsd:string) AnnotationAssertion( "postaxial acrofacial dysostosis (POADS)"^^xsd:string) AnnotationAssertion( "postaxial acrofacial dysostosis (POADS) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111259"^^xsd:string) AnnotationAssertion(rdfs:label "postaxial acrofacial dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (phosphoribosylpyrophosphate synthetase superactivity) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301734"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8253776"^^xsd:string) "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300661"^^xsd:string) AnnotationAssertion( "MESH:C567064"^^xsd:string) AnnotationAssertion( "ORDO:3222"^^xsd:string) AnnotationAssertion( "PRPP synthetase superactivity"^^xsd:string) AnnotationAssertion( "PRPS1 superactivity"^^xsd:string) AnnotationAssertion( "gout, PRPS-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111260"^^xsd:string) AnnotationAssertion(rdfs:label "phosphoribosylpyrophosphate synthetase superactivity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fumarase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22069215"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8200987"^^xsd:string) "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606812"^^xsd:string) AnnotationAssertion( "FH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6476"^^xsd:string) AnnotationAssertion( "MESH:C538191"^^xsd:string) AnnotationAssertion( "ORDO:24"^^xsd:string) AnnotationAssertion( "FMRD"^^xsd:string) AnnotationAssertion( "fumarate hydratase deficiency"^^xsd:string) AnnotationAssertion( "fumaric aciduria"^^xsd:string) AnnotationAssertion( "fumaricaciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111261"^^xsd:string) AnnotationAssertion(rdfs:label "fumarase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20950787"^^xsd:string) "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0009933"^^xsd:string) AnnotationAssertion( "GARD:10995"^^xsd:string) AnnotationAssertion( "MIM:613668"^^xsd:string) AnnotationAssertion( "ORDO:402364"^^xsd:string) AnnotationAssertion( "postnatal progressive microcephaly with seizures and brain atrophy"^^xsd:string) AnnotationAssertion( "postnatal progressive microcephaly, seizures, and brain atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111262"^^xsd:string) AnnotationAssertion(rdfs:label "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined malonic and methylmalonic acidemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21841779"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9700595"^^xsd:string) "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614265"^^xsd:string) AnnotationAssertion( "GARD:10818"^^xsd:string) AnnotationAssertion( "MESH:C580002"^^xsd:string) AnnotationAssertion( "ORDO:289504"^^xsd:string) AnnotationAssertion( "CMAMMA"^^xsd:string) AnnotationAssertion( "combined malonic and methylmalonic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111263"^^xsd:string) AnnotationAssertion(rdfs:label "combined malonic and methylmalonic acidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ruijs-Aalfs syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25261934"^^xsd:string) "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616200"^^xsd:string) AnnotationAssertion( "ORDO:435953"^^xsd:string) AnnotationAssertion( "RJALS"^^xsd:string) AnnotationAssertion( "progeroid features-hepatocellular carcinoma predisposition syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111264"^^xsd:string) AnnotationAssertion(rdfs:label "Ruijs-Aalfs syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Boucher-Neuhauser syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24355708"^^xsd:string) "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215470"^^xsd:string) AnnotationAssertion( "GARD:944"^^xsd:string) AnnotationAssertion( "MESH:C565850"^^xsd:string) AnnotationAssertion( "ORDO:1180"^^xsd:string) AnnotationAssertion( "BNHS"^^xsd:string) AnnotationAssertion( "ataxia-hypogonadism-choroidal dystrophy syndrome"^^xsd:string) AnnotationAssertion( "chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111265"^^xsd:string) AnnotationAssertion(rdfs:label "Boucher-Neuhauser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (geroderma osteodysplasticum) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18997784"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26000619"^^xsd:string) "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231070"^^xsd:string) AnnotationAssertion( "GARD:413"^^xsd:string) AnnotationAssertion( "MESH:C537799"^^xsd:string) AnnotationAssertion( "ORDO:2078"^^xsd:string) AnnotationAssertion( "GO"^^xsd:string) AnnotationAssertion( "Walt Disney dwarfism"^^xsd:string) AnnotationAssertion( "geroderma osteodysplastica"^^xsd:string) AnnotationAssertion( "geroderma osteodysplastica hereditaria"^^xsd:string) AnnotationAssertion( "gerodermia osteodysplastica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111266"^^xsd:string) AnnotationAssertion(rdfs:label "geroderma osteodysplasticum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyaline body myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22918376"^^xsd:string) "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7148"^^xsd:string) AnnotationAssertion( "ORDO:53698"^^xsd:string) AnnotationAssertion( "myosin storage myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111267"^^xsd:string) AnnotationAssertion(rdfs:label "hyaline body myopathy"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive hyaline body myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17372140"^^xsd:string) "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:255160"^^xsd:string) AnnotationAssertion( "MESH:C564970"^^xsd:string) AnnotationAssertion( "CMYP7B"^^xsd:string) AnnotationAssertion( "MSMB"^^xsd:string) AnnotationAssertion( "autosomal recessive myosin storage myopathy"^^xsd:string) AnnotationAssertion( "congenital myopathy 7B"^^xsd:string) AnnotationAssertion( "congenital myopathy 7B, myosin storage, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111268"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive hyaline body myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant hyaline body myopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16684601"^^xsd:string) "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001810"^^xsd:string) AnnotationAssertion( "MIM:608358"^^xsd:string) AnnotationAssertion( "MESH:C564253"^^xsd:string) AnnotationAssertion( "CMYP7A"^^xsd:string) AnnotationAssertion( "MSMA"^^xsd:string) AnnotationAssertion( "SPMD"^^xsd:string) AnnotationAssertion( "SPMM"^^xsd:string) AnnotationAssertion( "congenital myopathy 7A"^^xsd:string) AnnotationAssertion( "congenital myopathy 7A, myosin storage, autosomal dominant"^^xsd:string) AnnotationAssertion( "myopathy with lysis of type I myofibrils"^^xsd:string) AnnotationAssertion( "myosin storage myopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "scapuloperoneal muscular dystrophy"^^xsd:string) AnnotationAssertion( "scapuloperoneal myopathy, MYH7-related"^^xsd:string) AnnotationAssertion( "scapuloperoneal syndrome, myopathic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111269"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant hyaline body myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated sulfite oxidase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK453433/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6025118"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9428520"^^xsd:string) "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272300"^^xsd:string) AnnotationAssertion( "GARD:5062"^^xsd:string) AnnotationAssertion( "MESH:C538141"^^xsd:string) AnnotationAssertion( "ORDO:99731"^^xsd:string) AnnotationAssertion( "sulfite oxidase deficiency"^^xsd:string) AnnotationAssertion( "sulfocysteinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111270"^^xsd:string) AnnotationAssertion(rdfs:label "isolated sulfite oxidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oliver-McFarlane syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25480986"^^xsd:string) "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275400"^^xsd:string) AnnotationAssertion( "GARD:5266"^^xsd:string) AnnotationAssertion( "MESH:C536554"^^xsd:string) AnnotationAssertion( "ORDO:3363"^^xsd:string) AnnotationAssertion( "OMCS"^^xsd:string) AnnotationAssertion( "congenital trichomegaly, pigmentary retinal degeneration, and short stature"^^xsd:string) AnnotationAssertion( "long eyelashes with mental retardation"^^xsd:string) AnnotationAssertion( "long eyelashes, mental retardation"^^xsd:string) AnnotationAssertion( "long eyelashes-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina"^^xsd:string) AnnotationAssertion( "trichomegaly, pigmentary retina degeneration, dwarfism"^^xsd:string) AnnotationAssertion( "trichomegaly-retina pigmentary degeneration-dwarfism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111271"^^xsd:string) AnnotationAssertion(rdfs:label "Oliver-McFarlane syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (occipital horn syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7842019"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7887410"^^xsd:string) "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304150"^^xsd:string) AnnotationAssertion( "GARD:4017"^^xsd:string) AnnotationAssertion( "MESH:C537860"^^xsd:string) AnnotationAssertion( "ORDO:198"^^xsd:string) AnnotationAssertion( "EDS IX"^^xsd:string) AnnotationAssertion( "EDS9"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type 9"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type IX"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, occipital horn type"^^xsd:string) AnnotationAssertion( "OHS"^^xsd:string) AnnotationAssertion( "X-linked cutis laxa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111272"^^xsd:string) AnnotationAssertion(rdfs:label "occipital horn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NARP syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2137962"^^xsd:string) "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)"^^xsd:string) AnnotationAssertion( "MIM:551500"^^xsd:string) AnnotationAssertion( "GARD:262"^^xsd:string) AnnotationAssertion( "MESH:C537396"^^xsd:string) AnnotationAssertion( "ORDO:644"^^xsd:string) AnnotationAssertion( "neurogenic muscle weakness, ataxia, and retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome"^^xsd:string) AnnotationAssertion( "neuropathy, ataxia and retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "neuropathy, ataxia, retinitis pigmentosa syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111273"^^xsd:string) AnnotationAssertion(rdfs:label "NARP syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CODAS syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25574826"^^xsd:string) "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600373"^^xsd:string) AnnotationAssertion( "GARD:1418"^^xsd:string) AnnotationAssertion( "MESH:C536434"^^xsd:string) AnnotationAssertion( "NCI:C126744"^^xsd:string) AnnotationAssertion( "ORDO:1458"^^xsd:string) AnnotationAssertion( "LONP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome"^^xsd:string) AnnotationAssertion( "cerebral, ocular, dental, auricular, and skeletal syndrome"^^xsd:string) AnnotationAssertion( "cerebral, ocular, dental, auricular, skeletal anomalies syndrome"^^xsd:string) AnnotationAssertion( "cerebro-oculo-dento-auriculo-skeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111274"^^xsd:string) AnnotationAssertion(rdfs:label "CODAS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (speech-language disorder-1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11586359"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1934976"^^xsd:string) "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12889"^^xsd:string) AnnotationAssertion( "MIM:602081"^^xsd:string) AnnotationAssertion( "ORDO:209908"^^xsd:string) AnnotationAssertion( "FOXP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPCH1"^^xsd:string) AnnotationAssertion( "childhood apraxia of speech"^^xsd:string) AnnotationAssertion( "developmental apraxia of speech"^^xsd:string) AnnotationAssertion( "speech and language disorder with orofacial dyspraxia"^^xsd:string) AnnotationAssertion( "speech-language disorder type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111275"^^xsd:string) AnnotationAssertion(rdfs:label "speech-language disorder-1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sensory ataxic neuropathy, dysarthria, and ophthalmoparesis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12565911"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20220442"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9222196"^^xsd:string) "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C579922"^^xsd:string) AnnotationAssertion( "MIM:607459"^^xsd:string) AnnotationAssertion( "OMIA:001467"^^xsd:string) AnnotationAssertion( "MESH:C537583"^^xsd:string) AnnotationAssertion( "ORDO:70595"^^xsd:string) AnnotationAssertion( "ATAXIA NEUROPATHY SPECTRUM DISORDERS"^^xsd:string) AnnotationAssertion( "EPM5"^^xsd:string) AnnotationAssertion( "MIRAS"^^xsd:string) AnnotationAssertion( "SANDO"^^xsd:string) AnnotationAssertion( "ataxia neuropathy spectrum"^^xsd:string) AnnotationAssertion( "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions"^^xsd:string) AnnotationAssertion( "mitochondrial recessive ataxia syndrome"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 5"^^xsd:string) AnnotationAssertion( "sensory ataxia neuropathy, dysarthria and ophthalmoplegia"^^xsd:string) AnnotationAssertion( "ATAXIA WITH DYSARTHRIA"^^xsd:string) AnnotationAssertion( "EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY"^^xsd:string) AnnotationAssertion( "SCAE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111276"^^xsd:string) AnnotationAssertion(rdfs:label "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial trifunctional protein deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12754706"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12838198"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7738175"^^xsd:string) "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (DO)"^^xsd:string) AnnotationAssertion( "HADHA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HADHA-related disorder"^^xsd:string) AnnotationAssertion( "GARD:3684"^^xsd:string) AnnotationAssertion( "MESH:C566945"^^xsd:string) AnnotationAssertion( "MIM:PS609015"^^xsd:string) AnnotationAssertion( "NCI:C98991"^^xsd:string) AnnotationAssertion( "ORDO:746"^^xsd:string) AnnotationAssertion( "MTPD"^^xsd:string) AnnotationAssertion( "TFP deficiency"^^xsd:string) AnnotationAssertion( "TFPD"^^xsd:string) AnnotationAssertion( "trifunctional protein deficiency"^^xsd:string) AnnotationAssertion( "Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "trifunctional protein deficiency with myopathy and neuropathy"^^xsd:string) AnnotationAssertion( "DOID:0111277"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial trifunctional protein deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histiocytosis-lymphadenopathy plus syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20140240"^^xsd:string) "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602782"^^xsd:string) AnnotationAssertion( "EFO:1000528"^^xsd:string) AnnotationAssertion( "GARD:7588"^^xsd:string) AnnotationAssertion( "ICDO:9749/3"^^xsd:string) AnnotationAssertion( "MESH:C538322"^^xsd:string) AnnotationAssertion( "MONDO:0006412"^^xsd:string) AnnotationAssertion( "NCI:C36075"^^xsd:string) AnnotationAssertion( "Faisalabad histiocytosis"^^xsd:string) AnnotationAssertion( "H SYNDROME"^^xsd:string) AnnotationAssertion( "HJCD"^^xsd:string) AnnotationAssertion( "Histiocytosis with Joint Contractures and Sensorineural Deafness"^^xsd:string) AnnotationAssertion( "Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss"^^xsd:string) AnnotationAssertion( "PHID"^^xsd:string) AnnotationAssertion( "Rosai–Dorfman disease"^^xsd:string) AnnotationAssertion( "SHML"^^xsd:string) AnnotationAssertion( "familial Rosai-Dorfman disease"^^xsd:string) AnnotationAssertion( "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness"^^xsd:string) AnnotationAssertion( "pigmented hypertrichosis with insulin-dependent diabetes mellitus"^^xsd:string) AnnotationAssertion( "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome"^^xsd:string) AnnotationAssertion( "sinus histiocytosis and massive lymphadenopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111278"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytosis-lymphadenopathy plus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (psoriasis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236132"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. (DO)"^^xsd:string) AnnotationAssertion( "IL23R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:605606"^^xsd:string) AnnotationAssertion( "PSORS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PSORIASIS 7, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 7"^^xsd:string) AnnotationAssertion( "DOID:0111279"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 7"^^xsd:string) SubClassOf( ) # Class: (psoriasis 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9886260"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603935"^^xsd:string) AnnotationAssertion( "MONDO:0011387"^^xsd:string) AnnotationAssertion( "PSORIASIS 4, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS4"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111280"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 4"^^xsd:string) SubClassOf( ) # Class: (psoriasis 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24791904"^^xsd:string) "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616106"^^xsd:string) AnnotationAssertion( "MONDO:0014494"^^xsd:string) AnnotationAssertion( "PSORS15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pustular psoriasis 15, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0111281"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 15"^^xsd:string) SubClassOf( ) # Class: (psoriasis 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10573011"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604316"^^xsd:string) AnnotationAssertion( "PSORIASIS 5, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS5"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111282"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 5"^^xsd:string) SubClassOf( ) # Class: (psoriasis 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8841203"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 4q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601454"^^xsd:string) AnnotationAssertion( "PSORIASIS 3, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS3"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111283"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 3"^^xsd:string) SubClassOf( ) # Class: (psoriasis 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12485440"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607857"^^xsd:string) AnnotationAssertion( "PSORIASIS 9, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS9"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111284"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 9"^^xsd:string) SubClassOf( ) # Class: (psoriasis 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236132"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612599"^^xsd:string) AnnotationAssertion( "PSORIASIS 11, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS11"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111285"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 11"^^xsd:string) SubClassOf( ) # Class: (psoriasis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11841557"^^xsd:string) "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:177900"^^xsd:string) AnnotationAssertion( "PSORIASIS 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS1"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111286"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 1"^^xsd:string) SubClassOf( ) # Class: (psoriasis 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20953188"^^xsd:string) "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614070"^^xsd:string) AnnotationAssertion( "PSORIASIS 13, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS13"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111287"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 13"^^xsd:string) SubClassOf( ) # Class: (psoriasis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9259283"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610707"^^xsd:string) AnnotationAssertion( "MONDO:0012542"^^xsd:string) AnnotationAssertion( "PSORS8"^^xsd:string) AnnotationAssertion( "psoriasis 8, susceptibility to"^^xsd:string) AnnotationAssertion( "psoriasis susceptibility 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111288"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 8"^^xsd:string) SubClassOf( ) # Class: (psoriasis 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14632189"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612410"^^xsd:string) AnnotationAssertion( "PSORIASIS 10, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS10"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111289"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 10"^^xsd:string) SubClassOf( ) # Class: (psoriasis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10986047"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605364"^^xsd:string) AnnotationAssertion( "PSORIASIS 6, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PSORS6"^^xsd:string) AnnotationAssertion( "Psoriasis Susceptibility 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111290"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 6"^^xsd:string) SubClassOf( ) # Class: (psoriasis 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18364390"^^xsd:string) "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-15T16:23:54Z"^^xsd:string) AnnotationAssertion( "MIM:612950"^^xsd:string) AnnotationAssertion( "PSORS12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "psoriasis 12, susceptibility to"^^xsd:string) AnnotationAssertion( "psoriasis susceptibility 12"^^xsd:string) AnnotationAssertion( "DOID:0111291"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis 12"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15115768"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613060"^^xsd:string) AnnotationAssertion( "EIG10"^^xsd:string) AnnotationAssertion( "GABRD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EJM7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "juvenile myoclonic epilepsy, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:0111292"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 10"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15827091"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609800"^^xsd:string) AnnotationAssertion( "RDO:0013929"^^xsd:string) AnnotationAssertion( "MESH:C565227"^^xsd:string) AnnotationAssertion( "GEFS+, type 4"^^xsd:string) AnnotationAssertion( "GEFS+4"^^xsd:string) AnnotationAssertion( "GEFSP, Type 4"^^xsd:string) AnnotationAssertion( "GEFSP4"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 4"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 4"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111293"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 4"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10742094"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604403"^^xsd:string) AnnotationAssertion( "MESH:C565810"^^xsd:string) AnnotationAssertion( "GEFS+, type 2"^^xsd:string) AnnotationAssertion( "GEFS+2"^^xsd:string) AnnotationAssertion( "GEFSP2"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 2"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 2"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 2"^^xsd:string) AnnotationAssertion( "FEB3A"^^xsd:string) AnnotationAssertion( "GEFS+2 familial febrile seizures 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111294"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 2"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19763161"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613863"^^xsd:string) AnnotationAssertion( "MESH:C567827"^^xsd:string) AnnotationAssertion( "GEFS+, type 7"^^xsd:string) AnnotationAssertion( "GEFS+7"^^xsd:string) AnnotationAssertion( "GEFSP7"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 7"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 7"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 7"^^xsd:string) AnnotationAssertion( "FEB3B"^^xsd:string) AnnotationAssertion( "GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B"^^xsd:string) AnnotationAssertion( "familial febrile seizures 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111295"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 7"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30351409"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618482"^^xsd:string) AnnotationAssertion( "GEFS+, type 10"^^xsd:string) AnnotationAssertion( "GEFS+10"^^xsd:string) AnnotationAssertion( "GEFSP10"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 10"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 10"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111296"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 10"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12429594"^^xsd:string) "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS121210"^^xsd:string) AnnotationAssertion( "FEB"^^xsd:string) AnnotationAssertion( "familial febrile convulsions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111297"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8730286"^^xsd:string) "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607681"^^xsd:string) AnnotationAssertion( "GABRG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566975"^^xsd:string) AnnotationAssertion( "FEB8"^^xsd:string) AnnotationAssertion( "GEFS+3 familial febrile seizures 8"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111298"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 8"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19841378"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613828"^^xsd:string) AnnotationAssertion( "GEFS+, TYPE 8"^^xsd:string) AnnotationAssertion( "GEFS+8"^^xsd:string) AnnotationAssertion( "GEFSP8"^^xsd:string) AnnotationAssertion( "Generalized Epilepsy with Febrile Seizures Plus, Type 8"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 8"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111299"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 8"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18625863"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612279"^^xsd:string) AnnotationAssertion( "MESH:C567371"^^xsd:string) AnnotationAssertion( "GEFS+6"^^xsd:string) AnnotationAssertion( "GEFS, Type 6"^^xsd:string) AnnotationAssertion( "GEFSP6"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 6"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 6"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111300"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 6"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25362483"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9001363"^^xsd:string) AnnotationAssertion( "MIM:616172"^^xsd:string) AnnotationAssertion( "NCI:C192201"^^xsd:string) AnnotationAssertion( "GEFS+, type 9"^^xsd:string) AnnotationAssertion( "GEFS+9"^^xsd:string) AnnotationAssertion( "GEFSP9"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 9"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 9"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111301"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 9"^^xsd:string) SubClassOf( ) # Class: (generalized epilepsy with febrile seizures plus 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9697698"^^xsd:string) "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:604233"^^xsd:string) AnnotationAssertion( "MESH:C565809"^^xsd:string) AnnotationAssertion( "GEFS+1"^^xsd:string) AnnotationAssertion( "GEFS, type 1"^^xsd:string) AnnotationAssertion( "GEFSP1"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus 1"^^xsd:string) AnnotationAssertion( "generalised epilepsy with febrile seizures plus type 1"^^xsd:string) AnnotationAssertion( "generalized epilepsy with febrile seizures plus, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111302"^^xsd:string) AnnotationAssertion(rdfs:label "generalized epilepsy with febrile seizures plus 1"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17452582"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611634"^^xsd:string) AnnotationAssertion( "MESH:C566901"^^xsd:string) AnnotationAssertion( "FEB9"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111303"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 9"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18830713"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612637"^^xsd:string) AnnotationAssertion( "MESH:C567218"^^xsd:string) AnnotationAssertion( "FEB10"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111304"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 10"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12402266"^^xsd:string) "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-10T17:55:06Z"^^xsd:string) AnnotationAssertion( "MIM:604352"^^xsd:string) AnnotationAssertion( "ADGRV1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADGRV1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C565788"^^xsd:string) AnnotationAssertion( "FEB4"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111305"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 4"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12429594"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609255"^^xsd:string) AnnotationAssertion( "MESH:C563762"^^xsd:string) AnnotationAssertion( "FEB5"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111306"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 5"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8730286"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T16:37:25Z"^^xsd:string) AnnotationAssertion( "MIM:121210"^^xsd:string) AnnotationAssertion( "MESH:C565162"^^xsd:string) AnnotationAssertion( "FEB1"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 1"^^xsd:string) AnnotationAssertion( "familial seizures 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111307"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 1"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21922598"^^xsd:string) "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. (DO)"^^xsd:string) AnnotationAssertion( "CPA6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614418"^^xsd:string) AnnotationAssertion( "FEB11"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111308"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 11"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15557493"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609253"^^xsd:string) AnnotationAssertion( "MESH:C563764"^^xsd:string) AnnotationAssertion( "FEB6"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111309"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 6"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9384604"^^xsd:string) "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602477"^^xsd:string) AnnotationAssertion( "MESH:C566541"^^xsd:string) AnnotationAssertion( "FEB2"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17"^^xsd:string) AnnotationAssertion( "HCN2 RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "DOID:0111310"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 2"^^xsd:string) SubClassOf( ) # Class: (familial febrile seizures 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17054683"^^xsd:string) "A familial febrile seizures that has_material_basis_in heterozygous mutation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611515"^^xsd:string) AnnotationAssertion( "MESH:C566929"^^xsd:string) AnnotationAssertion( "FEB7"^^xsd:string) AnnotationAssertion( "familial febrile convulsions 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111311"^^xsd:string) AnnotationAssertion(rdfs:label "familial febrile seizures 7"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19710712"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607628"^^xsd:string) AnnotationAssertion( "EIG11"^^xsd:string) AnnotationAssertion( "EJA2"^^xsd:string) AnnotationAssertion( "EJM8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "juvenile absence epilepsy, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "juvenile myoclonic epilepsy, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "DOID:0111312"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (idiopathic generalized epilepsy 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19798636"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614847"^^xsd:string) AnnotationAssertion( "EIG12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "DOID:0111313"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 12"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11992121"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611136"^^xsd:string) AnnotationAssertion( "EIG13"^^xsd:string) AnnotationAssertion( "ECA4"^^xsd:string) AnnotationAssertion( "EJM5"^^xsd:string) AnnotationAssertion( "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13"^^xsd:string) AnnotationAssertion( "DOID:0111314"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (idiopathic generalized epilepsy 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24928908"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616685"^^xsd:string) AnnotationAssertion( "EIG14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 14"^^xsd:string) AnnotationAssertion( "DOID:0111315"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 14"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27352968"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618357"^^xsd:string) AnnotationAssertion( "EIG15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 15"^^xsd:string) AnnotationAssertion( "DOID:0111316"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 15"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10888596"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606972"^^xsd:string) AnnotationAssertion( "EIG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:0111317"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 2"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15101829"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608762"^^xsd:string) AnnotationAssertion( "EIG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:0111318"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 3"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16130088"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609750"^^xsd:string) AnnotationAssertion( "EIG4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "DOID:0111319"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 4"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18241056"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-12T14:56:55Z"^^xsd:string) AnnotationAssertion( "MIM:611934"^^xsd:string) AnnotationAssertion( "EIG5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "DOID:0111320"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 5"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9259280"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604827"^^xsd:string) AnnotationAssertion( "EIG7"^^xsd:string) AnnotationAssertion( "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "EJM2"^^xsd:string) AnnotationAssertion( "MYOCLONIC EPILEPSY, JUVENILE, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111321"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic generalized epilepsy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18756473"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612899"^^xsd:string) AnnotationAssertion( "EIG8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "DOID:0111322"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 8"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10762541"^^xsd:string) "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607682"^^xsd:string) AnnotationAssertion( "EIG9"^^xsd:string) AnnotationAssertion( "EJM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "DOID:0111323"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy 9"^^xsd:string) SubClassOf( ) # Class: (juvenile absence epilepsy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14663045"^^xsd:string) "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607631"^^xsd:string) AnnotationAssertion( "EJA1"^^xsd:string) AnnotationAssertion( "JAE1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "juvenile absence epilepsy, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:0111324"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile absence epilepsy 1"^^xsd:string) SubClassOf( ) # Class: (juvenile myoclonic epilepsy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29539279"^^xsd:string) "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617924"^^xsd:string) AnnotationAssertion( "EJM10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111325"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myoclonic epilepsy 10"^^xsd:string) SubClassOf( ) # Class: (juvenile myoclonic epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12830434"^^xsd:string) "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608816"^^xsd:string) AnnotationAssertion( "EJM3"^^xsd:string) AnnotationAssertion( "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111326"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myoclonic epilepsy 3"^^xsd:string) SubClassOf( ) # Class: (juvenile myoclonic epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17431681"^^xsd:string) "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611364"^^xsd:string) AnnotationAssertion( "EJM4"^^xsd:string) AnnotationAssertion( "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111327"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myoclonic epilepsy 4"^^xsd:string) SubClassOf( ) # Class: (juvenile myoclonic epilepsy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20467754"^^xsd:string) "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614280"^^xsd:string) AnnotationAssertion( "EJM9"^^xsd:string) AnnotationAssertion( "Epilepsy, juvenile myoclonic, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111328"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myoclonic epilepsy 9"^^xsd:string) SubClassOf( ) # Class: (pyridoxamine 5'-phosphate oxidase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24658933"^^xsd:string) "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610090"^^xsd:string) AnnotationAssertion( "GARD:10730"^^xsd:string) AnnotationAssertion( "MESH:C566449"^^xsd:string) AnnotationAssertion( "ORDO:79096"^^xsd:string) AnnotationAssertion( "PNPO deficiency"^^xsd:string) AnnotationAssertion( "PNPO-Related Neonatal Epileptic Encephalopathy"^^xsd:string) AnnotationAssertion( "PNPOD"^^xsd:string) AnnotationAssertion( "Pyridoxal 5'-Phosphate-Dependent Epilepsy"^^xsd:string) AnnotationAssertion( "Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "pyridoxal phosphate-dependent seizures"^^xsd:string) AnnotationAssertion( "pyridoxal phosphate-responsive seizures"^^xsd:string) AnnotationAssertion( "pyridoxamine 5'-oxidase deficiency"^^xsd:string) AnnotationAssertion( "pyridoxine-5'-phosphate oxidase deficiency"^^xsd:string) AnnotationAssertion( "pyridoxine-resistant seizures, PLP-sensitive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111329"^^xsd:string) AnnotationAssertion(rdfs:label "pyridoxamine 5'-phosphate oxidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined saposin deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11309366"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1371116"^^xsd:string) "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611721"^^xsd:string) AnnotationAssertion( "MESH:C567125"^^xsd:string) AnnotationAssertion( "ORDO:139406"^^xsd:string) AnnotationAssertion( "PSAPD"^^xsd:string) AnnotationAssertion( "SPHINGOLIPID ACTIVATOR PROTEIN 1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "combined SAP deficiency"^^xsd:string) AnnotationAssertion( "encephalopathy due to prosaposin deficiency"^^xsd:string) AnnotationAssertion( "prosaposin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111330"^^xsd:string) AnnotationAssertion(rdfs:label "combined saposin deficiency"^^xsd:string) SubClassOf( ) # Class: (intellectual disability-severe speech delay-mild dysmorphism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24214399"^^xsd:string) "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001500"^^xsd:string) AnnotationAssertion( "GARD:12501"^^xsd:string) AnnotationAssertion( "MIM:613670"^^xsd:string) AnnotationAssertion( "ORDO:391372"^^xsd:string) AnnotationAssertion( "FOXP1 Haploinsufficiency"^^xsd:string) AnnotationAssertion( "FOXP1 syndrome"^^xsd:string) AnnotationAssertion( "FOXP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FOXP1-Related Neurodevelopmental Disorder"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with language impairment and with or without autistic features"^^xsd:string) AnnotationAssertion( "intellectual disability with language impairment"^^xsd:string) AnnotationAssertion( "mental retardation with language impairment and with or without autistic features"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111331"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual disability-severe speech delay-mild dysmorphism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pitt-Hopkins-like syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19896112"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22617343"^^xsd:string) "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. (DO)"^^xsd:string) AnnotationAssertion( "NRXN-related disorder"^^xsd:string) AnnotationAssertion( "NRXN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614325"^^xsd:string) AnnotationAssertion( "PTHSL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111332"^^xsd:string) AnnotationAssertion(rdfs:label "Pitt-Hopkins-like syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22101682"^^xsd:string) "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12199"^^xsd:string) AnnotationAssertion( "MIM:614399"^^xsd:string) AnnotationAssertion( "ORDO:439212"^^xsd:string) AnnotationAssertion( "EMARDD"^^xsd:string) AnnotationAssertion( "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset"^^xsd:string) AnnotationAssertion( "congenital myopathy 10A"^^xsd:string) AnnotationAssertion( "CMYP10A"^^xsd:string) AnnotationAssertion( "Congenital myopathy 10A, severe variant"^^xsd:string) AnnotationAssertion( "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111333"^^xsd:string) AnnotationAssertion(rdfs:label "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital leptin deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10523015"^^xsd:string) "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614962"^^xsd:string) AnnotationAssertion( "ORDO:66628"^^xsd:string) AnnotationAssertion( "LEP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LEPD"^^xsd:string) AnnotationAssertion( "leptin deficiency or dysfunction"^^xsd:string) AnnotationAssertion( "nonsyndromic morbid obesity 1"^^xsd:string) AnnotationAssertion( "obesity due to congenital leptin deficiency"^^xsd:string) AnnotationAssertion( "LEPTIN DYSFUNCTION"^^xsd:string) AnnotationAssertion( "Leptin Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111334"^^xsd:string) AnnotationAssertion(rdfs:label "congenital leptin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myopathy with extrapyramidal signs) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24336167"^^xsd:string) "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12978"^^xsd:string) AnnotationAssertion( "MIM:615673"^^xsd:string) AnnotationAssertion( "ORDO:401768"^^xsd:string) AnnotationAssertion( "MPXPS"^^xsd:string) AnnotationAssertion( "proximal myopathy with extrapyramidal signs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111335"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy with extrapyramidal signs"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (craniofacial-deafness-hand syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6859126"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8664898"^^xsd:string) "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:122880"^^xsd:string) AnnotationAssertion( "GARD:1571"^^xsd:string) AnnotationAssertion( "MESH:C536453"^^xsd:string) AnnotationAssertion( "ORDO:1529"^^xsd:string) AnnotationAssertion( "CDHS"^^xsd:string) AnnotationAssertion( "Sommer-Young-Wee-Frye syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111336"^^xsd:string) AnnotationAssertion(rdfs:label "craniofacial-deafness-hand syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Jackson-Weiss syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1271196"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7874170"^^xsd:string) "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123150"^^xsd:string) AnnotationAssertion( "GARD:6796"^^xsd:string) AnnotationAssertion( "MESH:C537559"^^xsd:string) AnnotationAssertion( "NCI:C123814"^^xsd:string) AnnotationAssertion( "ORDO:1540"^^xsd:string) AnnotationAssertion( "JWS"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly Jackson Weiss type"^^xsd:string) AnnotationAssertion( "craniosynostosis, midfacial hypoplasia, and foot abnormalities"^^xsd:string) AnnotationAssertion( "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"^^xsd:string) AnnotationAssertion( "enlarged great toes and craniofacial abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111337"^^xsd:string) AnnotationAssertion(rdfs:label "Jackson-Weiss syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated elevated serum creatine phosphokinase levels) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/isolated-hyperckemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10746614"^^xsd:string) "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123320"^^xsd:string) AnnotationAssertion( "CPK, ELEVATED SERUM"^^xsd:string) AnnotationAssertion( "Creatine Phosphokinase, Elevated Serum"^^xsd:string) AnnotationAssertion( "idiopathic hyperCKemia"^^xsd:string) AnnotationAssertion( "isolated hyperCKemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111338"^^xsd:string) AnnotationAssertion(rdfs:label "isolated elevated serum creatine phosphokinase levels"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vohwinkel syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10369869"^^xsd:string) "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:124500"^^xsd:string) AnnotationAssertion( "MESH:C536457"^^xsd:string) AnnotationAssertion( "ORDO:3092"^^xsd:string) AnnotationAssertion( "ORDO:494"^^xsd:string) AnnotationAssertion( "KHM"^^xsd:string) AnnotationAssertion( "PPK mutilans Vohwinkel"^^xsd:string) AnnotationAssertion( "PPK mutilans and deafness"^^xsd:string) AnnotationAssertion( "VOWNKL"^^xsd:string) AnnotationAssertion( "congenital deafness with keratopachydermia and constrictions fo fingers and toes"^^xsd:string) AnnotationAssertion( "congenital deafness with keratopachydermia and constrictions of fingers and toes"^^xsd:string) AnnotationAssertion( "keratoderma hereditarium mutilans"^^xsd:string) AnnotationAssertion( "mutilating keratoderma"^^xsd:string) AnnotationAssertion( "mutilating keratoderma of Vohwinkel"^^xsd:string) AnnotationAssertion( "mutilating keratoderma plus deafness"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma mutilans"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma mutilans Vohwinkel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111339"^^xsd:string) AnnotationAssertion(rdfs:label "Vohwinkel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dominant optic atrophy plus syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12566046"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20157015"^^xsd:string) "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125250"^^xsd:string) AnnotationAssertion( "GARD:5243"^^xsd:string) AnnotationAssertion( "MESH:C537124"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME"^^xsd:string) AnnotationAssertion( "DOA+"^^xsd:string) AnnotationAssertion( "OPA1-RELATED OPTIC ATROPHY WITH OR WITHOUT EXTRAOCULAR FEATURES"^^xsd:string) AnnotationAssertion( "optic atrophy 1 and deafness"^^xsd:string) AnnotationAssertion( "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111340"^^xsd:string) AnnotationAssertion(rdfs:label "dominant optic atrophy plus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary failure of tooth eruption) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19061984"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29544499"^^xsd:string) "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125350"^^xsd:string) AnnotationAssertion( "MESH:C565114"^^xsd:string) AnnotationAssertion( "ORDO:412206"^^xsd:string) AnnotationAssertion( "PFE"^^xsd:string) AnnotationAssertion( "POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL"^^xsd:string) AnnotationAssertion( "Posterior Openbite, Familial"^^xsd:string) AnnotationAssertion( "Primary Failure of Eruption, Nonsyndromic"^^xsd:string) AnnotationAssertion( "Primary Retention of Teeth"^^xsd:string) AnnotationAssertion( "dental noneruption"^^xsd:string) AnnotationAssertion( "unerupted second primary molar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111341"^^xsd:string) AnnotationAssertion(rdfs:label "primary failure of tooth eruption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermatopathia pigmentosa reticularis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1303619"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16960809"^^xsd:string) "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125595"^^xsd:string) AnnotationAssertion( "GARD:8550"^^xsd:string) AnnotationAssertion( "MESH:C535374"^^xsd:string) AnnotationAssertion( "ORDO:86920"^^xsd:string) AnnotationAssertion( "DPR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111342"^^xsd:string) AnnotationAssertion(rdfs:label "dermatopathia pigmentosa reticularis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lateral meningocele syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25394726"^^xsd:string) "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:130720"^^xsd:string) AnnotationAssertion( "GARD:9873"^^xsd:string) AnnotationAssertion( "MESH:C537878"^^xsd:string) AnnotationAssertion( "ORDO:2789"^^xsd:string) AnnotationAssertion( "LMNS"^^xsd:string) AnnotationAssertion( "LMS"^^xsd:string) AnnotationAssertion( "Lehman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111343"^^xsd:string) AnnotationAssertion(rdfs:label "lateral meningocele syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myeloproliferative disorder with eosinophilia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12181402"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8168137"^^xsd:string) "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131440"^^xsd:string) AnnotationAssertion( "MESH:C565054"^^xsd:string) AnnotationAssertion( "MESH:C580365"^^xsd:string) AnnotationAssertion( "Clonal Eosinophilia with Chronic Myeloproliferative Disorder"^^xsd:string) AnnotationAssertion( "EMP"^^xsd:string) AnnotationAssertion( "Eosinophils, Malignant Proliferation of"^^xsd:string) AnnotationAssertion( "MPE"^^xsd:string) AnnotationAssertion( "PDGFRB-associated chronic eosinophilic leukemia"^^xsd:string) AnnotationAssertion( "atypical Philadelphia-negative chronic myeloid leukemia"^^xsd:string) AnnotationAssertion( "chronic myeloproliferative disorder with eosinophilia"^^xsd:string) AnnotationAssertion( "primary eosinophilia with chronic myeloproliferative disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111344"^^xsd:string) AnnotationAssertion(rdfs:label "myeloproliferative disorder with eosinophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (transient bullous dermolysis of the newborn) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16225626"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9406826"^^xsd:string) "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131705"^^xsd:string) AnnotationAssertion( "GARD:10010"^^xsd:string) AnnotationAssertion( "MESH:C536979"^^xsd:string) AnnotationAssertion( "ORDO:79411"^^xsd:string) AnnotationAssertion( "DEB, bullous dermolysis of the newborn"^^xsd:string) AnnotationAssertion( "DEB-BDN"^^xsd:string) AnnotationAssertion( "TBDN"^^xsd:string) AnnotationAssertion( "dystrophic epidermolysis bullosa, dominant neonatal"^^xsd:string) AnnotationAssertion( "dystrophic epidermolysis bullosa, neonatal"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, dominant neonatal form"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, neonatal form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111345"^^xsd:string) AnnotationAssertion(rdfs:label "transient bullous dermolysis of the newborn"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa simplex with mottled pigmentation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/421361"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8799157"^^xsd:string) "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131960"^^xsd:string) AnnotationAssertion( "GARD:9737"^^xsd:string) AnnotationAssertion( "MESH:C535959"^^xsd:string) AnnotationAssertion( "ORDO:79397"^^xsd:string) AnnotationAssertion( "EBS2F"^^xsd:string) AnnotationAssertion( "EBSMP"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 2F with mottled pigmentation"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex-MP"^^xsd:string) AnnotationAssertion( "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"^^xsd:string) AnnotationAssertion( "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111346"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex with mottled pigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa with congenital localized absence of skin and deformity of nails) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5910871"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8618021"^^xsd:string) "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:132000"^^xsd:string) AnnotationAssertion( "MESH:C562638"^^xsd:string) AnnotationAssertion( "EBD, Bart type"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, Bart type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111347"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa with congenital localized absence of skin and deformity of nails"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple epiphyseal dysplasia with myopia and deafness) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/699354"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9800905"^^xsd:string) "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:132450"^^xsd:string) AnnotationAssertion( "MESH:C565046"^^xsd:string) AnnotationAssertion( "ORDO:166011"^^xsd:string) AnnotationAssertion( "EDMMD"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia with myopia and conductive deafness"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia, Beighton type"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia-myopia-deafness syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111348"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia with myopia and deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary desmoid disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10782927"^^xsd:string) "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:135290"^^xsd:string) AnnotationAssertion( "MESH:C535944"^^xsd:string) AnnotationAssertion( "FIF"^^xsd:string) AnnotationAssertion( "desmoid tumor caused by somatic mutation"^^xsd:string) AnnotationAssertion( "familial infiltrative fibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111349"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary desmoid disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laurin-Sandrow syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24456159"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4314818"^^xsd:string) "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:135750"^^xsd:string) AnnotationAssertion( "GARD:155"^^xsd:string) AnnotationAssertion( "MESH:C535689"^^xsd:string) AnnotationAssertion( "ORDO:2378"^^xsd:string) AnnotationAssertion( "LSS"^^xsd:string) AnnotationAssertion( "Laurin-Sandrow Syndrome, Segmental"^^xsd:string) AnnotationAssertion( "MIP"^^xsd:string) AnnotationAssertion( "MIPduplication of fibuland ulna with absence of tibia and radius"^^xsd:string) AnnotationAssertion( "Sandrow syndrome"^^xsd:string) AnnotationAssertion( "TMIP"^^xsd:string) AnnotationAssertion( "duplication of fibula and ulna with absence of tibia and radius"^^xsd:string) AnnotationAssertion( "fibula ulna duplication, tibia radius absence"^^xsd:string) AnnotationAssertion( "miccor hands and feet with nasal defects"^^xsd:string) AnnotationAssertion( "mirror hands and feet with nasal defects"^^xsd:string) AnnotationAssertion( "mirror hands and feets-nasal defects syndrome"^^xsd:string) AnnotationAssertion( "mirror-image polydactyly"^^xsd:string) AnnotationAssertion( "tetramelic mirror-image polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111350"^^xsd:string) AnnotationAssertion(rdfs:label "Laurin-Sandrow syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (D-2-hydroxyglutaric aciduria 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15609246"^^xsd:string) "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600721"^^xsd:string) AnnotationAssertion( "D2HGA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111351"^^xsd:string) AnnotationAssertion(rdfs:label "D-2-hydroxyglutaric aciduria 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (D-2-hydroxyglutaric aciduria 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20847235"^^xsd:string) "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-08T10:32:00Z"^^xsd:string) AnnotationAssertion( "MIM:613657"^^xsd:string) AnnotationAssertion( "D2HGA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111352"^^xsd:string) AnnotationAssertion(rdfs:label "D-2-hydroxyglutaric aciduria 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arthrogryposis, renal dysfunction, and cholestasis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15052268"^^xsd:string) "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208085"^^xsd:string) AnnotationAssertion( "ARCS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111353"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 1"^^xsd:string) SubClassOf( ) # Class: (arthrogryposis, renal dysfunction, and cholestasis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20190753"^^xsd:string) "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613404"^^xsd:string) AnnotationAssertion( "ARCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111354"^^xsd:string) AnnotationAssertion(rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 2"^^xsd:string) SubClassOf( ) # Class: (hydrolethalus syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15843405"^^xsd:string) "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236680"^^xsd:string) AnnotationAssertion( "MESH:C565504"^^xsd:string) AnnotationAssertion( "HLS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111355"^^xsd:string) AnnotationAssertion(rdfs:label "hydrolethalus syndrome 1"^^xsd:string) SubClassOf( ) # Class: (hydrolethalus syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21552264"^^xsd:string) "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614120"^^xsd:string) AnnotationAssertion( "HLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111356"^^xsd:string) AnnotationAssertion(rdfs:label "hydrolethalus syndrome 2"^^xsd:string) SubClassOf( ) # Class: (adermatoglyphia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21820097"^^xsd:string) "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136000"^^xsd:string) AnnotationAssertion( "GARD:12550"^^xsd:string) AnnotationAssertion( "MESH:C565010"^^xsd:string) AnnotationAssertion( "ORDO:289465"^^xsd:string) AnnotationAssertion( "ADERM"^^xsd:string) AnnotationAssertion( "ADG"^^xsd:string) AnnotationAssertion( "Congenital absence of fingerprints"^^xsd:string) AnnotationAssertion( "Immigration delay disease"^^xsd:string) AnnotationAssertion( "absence of fingerprints"^^xsd:string) AnnotationAssertion( "isolated congenital adermatoglyphia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111357"^^xsd:string) AnnotationAssertion(rdfs:label "adermatoglyphia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Floating-Harbor syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22265015"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7588969"^^xsd:string) "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136140"^^xsd:string) AnnotationAssertion( "SRCAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6455"^^xsd:string) AnnotationAssertion( "MESH:C537062"^^xsd:string) AnnotationAssertion( "NCI:C175241"^^xsd:string) AnnotationAssertion( "ORDO:2044"^^xsd:string) AnnotationAssertion( "FLHS"^^xsd:string) AnnotationAssertion( "Leisti-Hollander-Rimoin syndrome"^^xsd:string) AnnotationAssertion( "Pelletier-Leisti syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111358"^^xsd:string) AnnotationAssertion(rdfs:label "Floating-Harbor syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (large congenital melanocytic nevus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18671780"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23392294"^^xsd:string) "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137550"^^xsd:string) AnnotationAssertion( "MESH:C536819"^^xsd:string) AnnotationAssertion( "NCI:C3944"^^xsd:string) AnnotationAssertion( "NCI:C4234"^^xsd:string) AnnotationAssertion( "ORDO:626"^^xsd:string) AnnotationAssertion( "CMNS"^^xsd:string) AnnotationAssertion( "Congenital pigmented nevus"^^xsd:string) AnnotationAssertion( "GIANT CONGENITAL PIGMENTED NEVUS"^^xsd:string) AnnotationAssertion( "GMN"^^xsd:string) AnnotationAssertion( "GPHN"^^xsd:string) AnnotationAssertion( "Giant Pigmented Hairy Nevus"^^xsd:string) AnnotationAssertion( "Giant congenital melanocytic nevus"^^xsd:string) AnnotationAssertion( "LCMN"^^xsd:string) AnnotationAssertion( "MELANOCYTIC NEVUS SYNDROME, CONGENITAL"^^xsd:string) AnnotationAssertion( "congenital melanocytic nevus syndrome, somatic"^^xsd:string) AnnotationAssertion( "PIGMENTED MOLES NEVUS SPILUS"^^xsd:string) AnnotationAssertion( "spitz nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111359"^^xsd:string) AnnotationAssertion(rdfs:label "large congenital melanocytic nevus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis-lymphedema-telangiectasia-renal defect syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24697860"^^xsd:string) "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137940"^^xsd:string) AnnotationAssertion( "MESH:C536825"^^xsd:string) AnnotationAssertion( "HLT-renal defect syndrome"^^xsd:string) AnnotationAssertion( "HLTRS"^^xsd:string) AnnotationAssertion( "cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "glomerulonephritis with sparse hair and telangiectases"^^xsd:string) AnnotationAssertion( "glomerulonephritis, sparse hair, telangiectases"^^xsd:string) AnnotationAssertion( "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"^^xsd:string) AnnotationAssertion( "telangiectatic membranoproliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111360"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis-lymphedema-telangiectasia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12740761"^^xsd:string) "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607823"^^xsd:string) AnnotationAssertion( "MESH:C564327"^^xsd:string) AnnotationAssertion( "HLTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111361"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis-lymphedema-telangiectasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hawkinsinuria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11073718"^^xsd:string) "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9008030"^^xsd:string) AnnotationAssertion( "MIM:140350"^^xsd:string) AnnotationAssertion( "GARD:5668"^^xsd:string) AnnotationAssertion( "MESH:C535845"^^xsd:string) AnnotationAssertion( "ORDO:2118"^^xsd:string) AnnotationAssertion( "4-HPPD deficiency"^^xsd:string) AnnotationAssertion( "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "4-hydroxyphenylpyruvic acid dioxygenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111362"^^xsd:string) AnnotationAssertion(rdfs:label "hawkinsinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Heinz body anemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14184033"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3997544"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8704193"^^xsd:string) "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. (DO)"^^xsd:string) AnnotationAssertion( "MIM:140700"^^xsd:string) AnnotationAssertion( "GARD:10718"^^xsd:string) AnnotationAssertion( "MESH:C563030"^^xsd:string) AnnotationAssertion( "Heinz Body Anemias"^^xsd:string) AnnotationAssertion( "Heinz Body Hemolytic Anemia"^^xsd:string) AnnotationAssertion( "Hemoglobin Tacoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111363"^^xsd:string) AnnotationAssertion(rdfs:label "Heinz body anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's disease 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21460840"^^xsd:string) "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608907"^^xsd:string) AnnotationAssertion( "MESH:C563834"^^xsd:string) AnnotationAssertion( "AD9"^^xsd:string) AnnotationAssertion( "Alzheimer Disease 9, Late-Onset"^^xsd:string) AnnotationAssertion( "Alzheimer disease 9"^^xsd:string) AnnotationAssertion( "Alzheimer's disease 9, late onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Alzheimer disease 9, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0111364"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial hematuria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8787673"^^xsd:string) "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562476"^^xsd:string) AnnotationAssertion( "MIM:PS141200"^^xsd:string) AnnotationAssertion( "BFH"^^xsd:string) AnnotationAssertion( "MICROSCOPIC HEMATURIA"^^xsd:string) AnnotationAssertion( "TMN"^^xsd:string) AnnotationAssertion( "Thin-Basement-Membrane Nephropathy"^^xsd:string) AnnotationAssertion( "familial hematuria"^^xsd:string) AnnotationAssertion( "thin membrane nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111365"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial hematuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hepatic adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/207987"^^xsd:string) "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142330"^^xsd:string) AnnotationAssertion( "MESH:C564190"^^xsd:string) AnnotationAssertion( "familial hepatic adenomas"^^xsd:string) AnnotationAssertion( "familial liver cell adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111366"^^xsd:string) AnnotationAssertion(rdfs:label "familial hepatic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Beukes hip dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26428751"^^xsd:string) "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142669"^^xsd:string) AnnotationAssertion( "GARD:2690"^^xsd:string) AnnotationAssertion( "MESH:C564185"^^xsd:string) AnnotationAssertion( "ORDO:2114"^^xsd:string) AnnotationAssertion( "BFHD"^^xsd:string) AnnotationAssertion( "BHD"^^xsd:string) AnnotationAssertion( "Beukes familial hip dysplasia"^^xsd:string) AnnotationAssertion( "Cilliers-Beighton syndrome"^^xsd:string) AnnotationAssertion( "Hip Dysplasia, Beukes Type"^^xsd:string) AnnotationAssertion( "premature degenerative osteoarthropathy of hip"^^xsd:string) AnnotationAssertion( "premature degenerative osteoarthropathy of the hip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111367"^^xsd:string) AnnotationAssertion(rdfs:label "Beukes hip dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cholesterol-ester transfer protein deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/168823"^^xsd:string) "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564591"^^xsd:string) AnnotationAssertion( "ORDO:79506"^^xsd:string) AnnotationAssertion( "CEPT deficiency"^^xsd:string) AnnotationAssertion( "CETP deficiency"^^xsd:string) AnnotationAssertion( "Cholesteryl Ester Transfer Protein Deficiency"^^xsd:string) AnnotationAssertion( "familial hyperalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "hyperalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111368"^^xsd:string) AnnotationAssertion(rdfs:label "cholesterol-ester transfer protein deficiency"^^xsd:string) SubClassOf( ) # Class: (hyperalphalipoproteinemia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2215607"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6738363"^^xsd:string) "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143470"^^xsd:string) AnnotationAssertion( "NCI:C128806"^^xsd:string) AnnotationAssertion( "CETP deficiency"^^xsd:string) AnnotationAssertion( "HALP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111369"^^xsd:string) AnnotationAssertion(rdfs:label "hyperalphalipoproteinemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (apolipoprotein C-III deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2022742"^^xsd:string) "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614028"^^xsd:string) AnnotationAssertion( "MESH:C566270"^^xsd:string) AnnotationAssertion( "HALP2"^^xsd:string) AnnotationAssertion( "hyperalphalipoproteinemia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111370"^^xsd:string) AnnotationAssertion(rdfs:label "apolipoprotein C-III deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isolated hyperchlorhidrosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21184099"^^xsd:string) "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143860"^^xsd:string) AnnotationAssertion( "ORDO:542657"^^xsd:string) AnnotationAssertion( "HYCHL"^^xsd:string) AnnotationAssertion( "carbonic anhydrase XII deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111371"^^xsd:string) AnnotationAssertion(rdfs:label "isolated hyperchlorhidrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (familial progressive hyperpigmentation with or without hypopigmentation) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19375057"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21368769"^^xsd:string) "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145250"^^xsd:string) AnnotationAssertion( "MESH:C564163"^^xsd:string) AnnotationAssertion( "FPHH"^^xsd:string) AnnotationAssertion( "MUH"^^xsd:string) AnnotationAssertion( "familial progressive hyperpigmentation"^^xsd:string) AnnotationAssertion( "melanosis universalis hereditaria"^^xsd:string) AnnotationAssertion( "FPH2"^^xsd:string) AnnotationAssertion( "familial progressive hyperpigmentation, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111373"^^xsd:string) AnnotationAssertion(rdfs:label "familial progressive hyperpigmentation with or without hypopigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (selective pituitary thyroid hormone resistance) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6798060"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8040303"^^xsd:string) "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145650"^^xsd:string) AnnotationAssertion( "THRB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564154"^^xsd:string) AnnotationAssertion( "ORDO:165994"^^xsd:string) AnnotationAssertion( "PRTH"^^xsd:string) AnnotationAssertion( "familial hyperthyroidism due to inappropriate thyrotropin secretion"^^xsd:string) AnnotationAssertion( "pituitary resistance to thyroid hormone"^^xsd:string) AnnotationAssertion( "selective pituitary resistance to thyroid hormone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111374"^^xsd:string) AnnotationAssertion(rdfs:label "selective pituitary thyroid hormone resistance"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19261599"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22482962"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30498368"^^xsd:string) "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9634"^^xsd:string) AnnotationAssertion( "MIM:PS208150"^^xsd:string) AnnotationAssertion( "NCI:C129071"^^xsd:string) AnnotationAssertion( "ORDO:994"^^xsd:string) AnnotationAssertion( "FADS"^^xsd:string) AnnotationAssertion( "Pena-Shokeir syndrome type 1"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "fetal akinesia deformation sequence"^^xsd:string) AnnotationAssertion( "foetal akinesia deformation sequence syndrome"^^xsd:string) AnnotationAssertion( "foetal akinesia sequence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111375"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19261599"^^xsd:string) "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618389"^^xsd:string) AnnotationAssertion( "FADS3"^^xsd:string) AnnotationAssertion( "fetal akinesia deformation sequence 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111376"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25537362"^^xsd:string) "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208150"^^xsd:string) AnnotationAssertion( "RAPSN-related disorder"^^xsd:string) AnnotationAssertion( "RAPSN-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C536647"^^xsd:string) AnnotationAssertion( "Arthrogryposis multiplex congenita with pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings"^^xsd:string) AnnotationAssertion( "FADS1"^^xsd:string) AnnotationAssertion( "Fetal Akinesia Deformation Sequence 1"^^xsd:string) AnnotationAssertion( "Fetal akinesia sequence"^^xsd:string) AnnotationAssertion( "Lethal Pena-Shokeir 1 syndrome"^^xsd:string) AnnotationAssertion( "Pena Shokeir Syndrome, Type 1"^^xsd:string) AnnotationAssertion( "Pena-Shokeir syndrome, type I"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita, pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111377"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18179903"^^xsd:string) "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618388"^^xsd:string) AnnotationAssertion( "FADS2"^^xsd:string) AnnotationAssertion( "fetal akinesia deformation sequence 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111378"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal akinesia deformation sequence syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30543681"^^xsd:string) "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618393"^^xsd:string) AnnotationAssertion( "FADS4"^^xsd:string) AnnotationAssertion( "fetal akinesia deformation sequence 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111379"^^xsd:string) AnnotationAssertion(rdfs:label "fetal akinesia deformation sequence syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (solitary median maxillary central incisor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11471164"^^xsd:string) "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147250"^^xsd:string) AnnotationAssertion( "GARD:4877"^^xsd:string) AnnotationAssertion( "MESH:C537342"^^xsd:string) AnnotationAssertion( "Fused incisors"^^xsd:string) AnnotationAssertion( "SMMCI"^^xsd:string) AnnotationAssertion( "SMMCI syndrome"^^xsd:string) AnnotationAssertion( "Single central maxillary incisor"^^xsd:string) AnnotationAssertion( "single median maxillary central incisor"^^xsd:string) AnnotationAssertion( "single upper central incisor"^^xsd:string) AnnotationAssertion( "solitary median maxillary central incisor syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111380"^^xsd:string) AnnotationAssertion(rdfs:label "solitary median maxillary central incisor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IVIC syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17256792"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7395922"^^xsd:string) "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147750"^^xsd:string) AnnotationAssertion( "SALL4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "SALL4-related spectrum disorder"^^xsd:string) AnnotationAssertion( "SALL4-related spectrum disorders"^^xsd:string) AnnotationAssertion( "GARD:269"^^xsd:string) AnnotationAssertion( "MESH:C535544"^^xsd:string) AnnotationAssertion( "ORDO:2307"^^xsd:string) AnnotationAssertion( "Instituto Venezolano de Investigaciones Cientificas syndrome"^^xsd:string) AnnotationAssertion( "OORS"^^xsd:string) AnnotationAssertion( "oculo-oto-radial syndrome"^^xsd:string) AnnotationAssertion( "oculootoradial syndrome"^^xsd:string) AnnotationAssertion( "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111381"^^xsd:string) AnnotationAssertion(rdfs:label "IVIC syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ischiocoxopodopatellar syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11303519"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15106123"^^xsd:string) "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147891"^^xsd:string) AnnotationAssertion( "TBX4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3030"^^xsd:string) AnnotationAssertion( "MESH:C535540"^^xsd:string) AnnotationAssertion( "MESH:C536307"^^xsd:string) AnnotationAssertion( "ORDO:1509"^^xsd:string) AnnotationAssertion( "ICPPS"^^xsd:string) AnnotationAssertion( "SPS"^^xsd:string) AnnotationAssertion( "Scott-Taor syndrome"^^xsd:string) AnnotationAssertion( "congenital coxa vara, patella aplasia and tarsal synostosis"^^xsd:string) AnnotationAssertion( "coxo-podo-patellar syndrome"^^xsd:string) AnnotationAssertion( "coxopodipatellar syndrome"^^xsd:string) AnnotationAssertion( "coxopodopatellar syndrome"^^xsd:string) AnnotationAssertion( "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"^^xsd:string) AnnotationAssertion( "ischiopatellar dysplasia"^^xsd:string) AnnotationAssertion( "patella aplasia, coxa vara, and tarsal synostosis"^^xsd:string) AnnotationAssertion( "patella aplasia, coxa vara, tarsal synostosis"^^xsd:string) AnnotationAssertion( "small patella syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111382"^^xsd:string) AnnotationAssertion(rdfs:label "ischiocoxopodopatellar syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant keratitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7668281"^^xsd:string) "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148190"^^xsd:string) AnnotationAssertion( "GARD:3089"^^xsd:string) AnnotationAssertion( "MESH:C537022"^^xsd:string) AnnotationAssertion( "ORDO:2334"^^xsd:string) AnnotationAssertion( "dominantly inherited keratitis"^^xsd:string) AnnotationAssertion( "hereditary keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111383"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23455423"^^xsd:string) "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615422"^^xsd:string) AnnotationAssertion( "IBMPFD2"^^xsd:string) AnnotationAssertion( "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2"^^xsd:string) AnnotationAssertion( "MSP2"^^xsd:string) AnnotationAssertion( "MULTISYSTEM PROTEINOPATHY 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111384"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15034582"^^xsd:string) "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:167320"^^xsd:string) AnnotationAssertion( "NCI:C122663"^^xsd:string) AnnotationAssertion( "IBMPFD1"^^xsd:string) AnnotationAssertion( "MSP1"^^xsd:string) AnnotationAssertion( "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1"^^xsd:string) AnnotationAssertion( "multisystem proteinopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111385"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23455423"^^xsd:string) "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615424"^^xsd:string) AnnotationAssertion( "IBMPFD3"^^xsd:string) AnnotationAssertion( "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3"^^xsd:string) AnnotationAssertion( "MSP3"^^xsd:string) AnnotationAssertion( "MULTISYSTEM PROTEINOPATHY 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111386"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial isolated hypoparathyroidism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11602629"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2212001"^^xsd:string) "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537156"^^xsd:string) AnnotationAssertion( "MIM:PS146200"^^xsd:string) AnnotationAssertion( "FIH"^^xsd:string) AnnotationAssertion( "hypoparathyroidism, autosomal dominant"^^xsd:string) AnnotationAssertion( "hypoparathyroidism, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111387"^^xsd:string) AnnotationAssertion(rdfs:label "familial isolated hypoparathyroidism"^^xsd:string) SubClassOf( ) # Class: (X-linked hypoparathyroidism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14431322"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9832036"^^xsd:string) "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:307700"^^xsd:string) AnnotationAssertion( "MESH:C562782"^^xsd:string) AnnotationAssertion( "MESH:C563238"^^xsd:string) AnnotationAssertion( "HYPX"^^xsd:string) AnnotationAssertion( "agenesis of parathyroid glands"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111388"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked hypoparathyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis Ih/s) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10466419"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2128891"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7550242"^^xsd:string) "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12560"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.02"^^xsd:string) AnnotationAssertion( "MIM:607015"^^xsd:string) AnnotationAssertion( "NCI:C122782"^^xsd:string) AnnotationAssertion( "ORDO:93476"^^xsd:string) AnnotationAssertion( "MPS1-HS"^^xsd:string) AnnotationAssertion( "MPS1H/S"^^xsd:string) AnnotationAssertion( "MPSIH/S"^^xsd:string) AnnotationAssertion( "MUCOPOLYSACCHARIDOSIS, MPS-I-H/S"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type Ih S"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type Ihs"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis type 1H/S"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111389"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis Ih/s"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis Ih) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3124802"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7550242"^^xsd:string) "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607014"^^xsd:string) AnnotationAssertion( "GARD:12559"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.01"^^xsd:string) AnnotationAssertion( "NCI:C61261"^^xsd:string) AnnotationAssertion( "ORDO:93473"^^xsd:string) AnnotationAssertion( "Gargoylism"^^xsd:string) AnnotationAssertion( "Gargoylisms"^^xsd:string) AnnotationAssertion( "Hurler Disease"^^xsd:string) AnnotationAssertion( "Hurler Syndrome"^^xsd:string) AnnotationAssertion( "Hurler Syndrome Gargoylism"^^xsd:string) AnnotationAssertion( "Hurler disease MPS type 1H"^^xsd:string) AnnotationAssertion( "Hurler's Disease"^^xsd:string) AnnotationAssertion( "Hurler's Syndrome"^^xsd:string) AnnotationAssertion( "L-iduronidase deficiency, Hurler type"^^xsd:string) AnnotationAssertion( "MPS I - Hurler syndrome"^^xsd:string) AnnotationAssertion( "MPS1-H"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type Ih"^^xsd:string) AnnotationAssertion( "Pfaundler-Hurler syndrome"^^xsd:string) AnnotationAssertion( "dysostosis multiplex"^^xsd:string) AnnotationAssertion( "dysostosis multiplex syndrome"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type I severe form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111390"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis Ih"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis IVA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18412124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7607677"^^xsd:string) "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3785"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.210"^^xsd:string) AnnotationAssertion( "MIM:253000"^^xsd:string) AnnotationAssertion( "NCI:C84901"^^xsd:string) AnnotationAssertion( "ORDO:309297"^^xsd:string) AnnotationAssertion( "GALNS Deficiency"^^xsd:string) AnnotationAssertion( "GALNS deficiencies"^^xsd:string) AnnotationAssertion( "MPS IV - Morquio syndrome A"^^xsd:string) AnnotationAssertion( "MPS IV A"^^xsd:string) AnnotationAssertion( "MPS IVA"^^xsd:string) AnnotationAssertion( "MPS4A"^^xsd:string) AnnotationAssertion( "Morquio A Disease"^^xsd:string) AnnotationAssertion( "Morquio Syndrome A"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type IV A"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:7259005"^^xsd:string) "Mucopolysaccharidosis, MPS-IV-A"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IVA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111391"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis IVA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis type IVB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1928092"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/817853"^^xsd:string) "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.211"^^xsd:string) AnnotationAssertion( "MIM:253010"^^xsd:string) AnnotationAssertion( "NCI:C84902"^^xsd:string) AnnotationAssertion( "ORDO:309310"^^xsd:string) AnnotationAssertion( "MPS IV - Morquio syndrome B"^^xsd:string) AnnotationAssertion( "MPS IV B"^^xsd:string) AnnotationAssertion( "MPS IVB"^^xsd:string) AnnotationAssertion( "MPS4B"^^xsd:string) AnnotationAssertion( "Morquio Syndrome, Type B"^^xsd:string) AnnotationAssertion( "Morquio disease B"^^xsd:string) AnnotationAssertion( "Morquio disease type B"^^xsd:string) AnnotationAssertion( "Morquio syndrome B"^^xsd:string) AnnotationAssertion( "Morquio's disease Type B"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 4B"^^xsd:string) AnnotationAssertion( "beta-D-galactosidase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IV B"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IVB (Morquio)"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis, MPS-IV-B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111392"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis type IVB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis type IIIC) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16960811"^^xsd:string) "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7073"^^xsd:string) AnnotationAssertion( "MIM:252930"^^xsd:string) AnnotationAssertion( "NCI:C84899"^^xsd:string) AnnotationAssertion( "ORDO:79271"^^xsd:string) AnnotationAssertion( "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency"^^xsd:string) AnnotationAssertion( "HGSNAT deficiency"^^xsd:string) AnnotationAssertion( "MPS 3 C"^^xsd:string) AnnotationAssertion( "MPS III C"^^xsd:string) AnnotationAssertion( "MPS IIIC"^^xsd:string) AnnotationAssertion( "MPS IIIC - Sanfilippo syndrome C"^^xsd:string) AnnotationAssertion( "MPS3C"^^xsd:string) AnnotationAssertion( "MPSIIIC"^^xsd:string) AnnotationAssertion( "MUCOPOLYSACCHARIDOSIS, MPS-III-C"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type 3 C"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis type 3C"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome C"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome type C"^^xsd:string) AnnotationAssertion( "heparan-alpha-glucosaminide N-acetyltransferase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IIIC (Sanfilippo C)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111393"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis type IIIC"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis type IIIB) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15933803"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8650226"^^xsd:string) "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7072"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.22"^^xsd:string) AnnotationAssertion( "MIM:252920"^^xsd:string) AnnotationAssertion( "ORDO:79270"^^xsd:string) AnnotationAssertion( "MPS 3 B"^^xsd:string) AnnotationAssertion( "MPS III B"^^xsd:string) AnnotationAssertion( "MPS IIIB"^^xsd:string) AnnotationAssertion( "MPS IIIB - Sanfilippo syndrome B"^^xsd:string) AnnotationAssertion( "MPS3B"^^xsd:string) AnnotationAssertion( "MPSIIIB"^^xsd:string) AnnotationAssertion( "Mucopoly-saccharidosis type 3B"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type 3 B"^^xsd:string) AnnotationAssertion( "N-acetyl-alpha-glucosaminidase deficiency"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome B"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome type B"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis IIIB"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 3B"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IIIB (Sanfilippo B)"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis, MPS-III-B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111394"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis type IIIB"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis type IIIA) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6796310"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7493035"^^xsd:string) "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:252900"^^xsd:string) AnnotationAssertion( "ORDO:79269"^^xsd:string) AnnotationAssertion( "MPS 3 A"^^xsd:string) AnnotationAssertion( "MPS III A"^^xsd:string) AnnotationAssertion( "MPS IIIA"^^xsd:string) AnnotationAssertion( "MPS IIIA - Sanfilippo syndrome A"^^xsd:string) AnnotationAssertion( "MPS3A"^^xsd:string) AnnotationAssertion( "MPSIIIA"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome A"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome type A"^^xsd:string) AnnotationAssertion( "heparan sulfamidase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis III-A"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis IIIA"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 3 A"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 3 A Sanfilippo syndrome"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 3A"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IIIA (Sanfilippo A)"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis, MPS-III-A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111395"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis type IIIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16098079"^^xsd:string) "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2000"^^xsd:string) AnnotationAssertion( "ORDO:98869"^^xsd:string) AnnotationAssertion( "CDA I"^^xsd:string) AnnotationAssertion( "CDA type 1"^^xsd:string) AnnotationAssertion( "CDA type I"^^xsd:string) AnnotationAssertion( "Congenital dyserythropoietic anaemia type 1"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type I"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111396"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type I"^^xsd:string) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type Ib) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23716552"^^xsd:string) "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615631"^^xsd:string) AnnotationAssertion( "CDA, type Ib"^^xsd:string) AnnotationAssertion( "CDAN1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111397"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type Ib"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type Ia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12434312"^^xsd:string) "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224120"^^xsd:string) AnnotationAssertion( "CDA Ia"^^xsd:string) AnnotationAssertion( "CDA type Ia"^^xsd:string) AnnotationAssertion( "CDAN1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111398"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type Ia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type III) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7711721"^^xsd:string) "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105600"^^xsd:string) AnnotationAssertion( "GARD:2002"^^xsd:string) AnnotationAssertion( "MESH:C566285"^^xsd:string) AnnotationAssertion( "ORDO:98870"^^xsd:string) AnnotationAssertion( "CDA III"^^xsd:string) AnnotationAssertion( "CDA type 3"^^xsd:string) AnnotationAssertion( "CDA type 3A"^^xsd:string) AnnotationAssertion( "CDA type III"^^xsd:string) AnnotationAssertion( "CDAN3"^^xsd:string) AnnotationAssertion( "CDAN3A"^^xsd:string) AnnotationAssertion( "Congenital dyserythropoietic anaemia type 3"^^xsd:string) AnnotationAssertion( "KIF23-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "anaemia with multinucleated erythroblasts"^^xsd:string) AnnotationAssertion( "anemia with multinucleated erythroblasts"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type III"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia type 3"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia type IIIA"^^xsd:string) AnnotationAssertion( "hereditary benign erythroreticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111399"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type III"^^xsd:string) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type IV) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21055716"^^xsd:string) "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613673"^^xsd:string) AnnotationAssertion( "MONDO:0013355"^^xsd:string) AnnotationAssertion( "NCI:C157148"^^xsd:string) AnnotationAssertion( "ORDO:293825"^^xsd:string) AnnotationAssertion( "CDA IV"^^xsd:string) AnnotationAssertion( "CDA due to KLF1 mutation"^^xsd:string) AnnotationAssertion( "CDA type 4"^^xsd:string) AnnotationAssertion( "CDA, type IV"^^xsd:string) AnnotationAssertion( "CDAN4"^^xsd:string) AnnotationAssertion( "KLF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia due to KLF1 mutation"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type 4"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type IV"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia due to KLF1 mutation"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia, type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111400"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type IV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia type II) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19561605"^^xsd:string) "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2001"^^xsd:string) AnnotationAssertion( "MIM:224100"^^xsd:string) AnnotationAssertion( "NCI:C175991"^^xsd:string) AnnotationAssertion( "ORDO:98873"^^xsd:string) AnnotationAssertion( "CDA II"^^xsd:string) AnnotationAssertion( "CDA type 2"^^xsd:string) AnnotationAssertion( "CDA type II"^^xsd:string) AnnotationAssertion( "CDAN2"^^xsd:string) AnnotationAssertion( "Dyserythropoietic Anemia, HEMPAS Type"^^xsd:string) AnnotationAssertion( "HEMPAS"^^xsd:string) AnnotationAssertion( "HEMPAS anemia"^^xsd:string) AnnotationAssertion( "HEMPAS anemias"^^xsd:string) AnnotationAssertion( "SEC23B-CDG"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type 2"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anaemia type II"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia, type 2"^^xsd:string) AnnotationAssertion( "hereditary erythroblast multinuclearity with positive acidified serum"^^xsd:string) AnnotationAssertion( "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"^^xsd:string) AnnotationAssertion( "hereditary erythroblastic multinuclearity with positive acidified-serum test"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111401"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis type IIID) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12573255"^^xsd:string) "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7074"^^xsd:string) AnnotationAssertion( "MIM:252940"^^xsd:string) AnnotationAssertion( "NCI:C84900"^^xsd:string) AnnotationAssertion( "ORDO:79272"^^xsd:string) AnnotationAssertion( "GNS deficiency"^^xsd:string) AnnotationAssertion( "MPS 3 D"^^xsd:string) AnnotationAssertion( "MPS III D"^^xsd:string) AnnotationAssertion( "MPS IIID"^^xsd:string) AnnotationAssertion( "MPS IIID - Sanfilippo syndrome D"^^xsd:string) AnnotationAssertion( "MPS3D"^^xsd:string) AnnotationAssertion( "MUCOPOLYSACCHARIDOSIS, MPS-III-D"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis type 3D"^^xsd:string) AnnotationAssertion( "N acetylglucosamine 6 sulfate sulfatase deficiency"^^xsd:string) AnnotationAssertion( "N-acetylglucosamine-6-sulfatase deficiencies"^^xsd:string) AnnotationAssertion( "N-acetylglucosamine-6-sulfatase deficiency"^^xsd:string) AnnotationAssertion( "N-acetylglucosamine-6-sulfate sulfatase deficiencies"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome D"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome type D"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 3 D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111402"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis type IIID"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30449657"^^xsd:string) "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T11:02:58Z"^^xsd:string) AnnotationAssertion( "MIM:618273"^^xsd:string) AnnotationAssertion( "MAST1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MCCCHCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111403"^^xsd:string) AnnotationAssertion(rdfs:label "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jalili syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19200527"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3236352"^^xsd:string) "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:217080"^^xsd:string) AnnotationAssertion( "GARD:1463"^^xsd:string) AnnotationAssertion( "MESH:C000596385"^^xsd:string) AnnotationAssertion( "ORDO:1873"^^xsd:string) AnnotationAssertion( "cone rod dystrophy-amelogenesis imperfecta syndrome"^^xsd:string) AnnotationAssertion( "cone-rod dystrophy and amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111404"^^xsd:string) AnnotationAssertion(rdfs:label "Jalili syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fraser syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12766769"^^xsd:string) "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219000"^^xsd:string) AnnotationAssertion( "CRYPTOPHTHALMOS SYNDROME"^^xsd:string) AnnotationAssertion( "FRAS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FRASRS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111405"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Fraser syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22510445"^^xsd:string) "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617667"^^xsd:string) AnnotationAssertion( "FRASRS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111406"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Fraser syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string) "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. (DO)"^^xsd:string) AnnotationAssertion( "FREM2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617666"^^xsd:string) AnnotationAssertion( "FRASRS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111407"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser syndrome 2"^^xsd:string) SubClassOf( ) # Class: (exudative vitreoretinopathy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20159111"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613310"^^xsd:string) AnnotationAssertion( "MESH:C567648"^^xsd:string) AnnotationAssertion( "EVR5"^^xsd:string) AnnotationAssertion( "TSPAN12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111408"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11179025"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15665352"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605750"^^xsd:string) AnnotationAssertion( "MESH:C565297"^^xsd:string) AnnotationAssertion( "EVR3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111409"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23716654"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616468"^^xsd:string) AnnotationAssertion( "EVR6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111410"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15024691"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601813"^^xsd:string) AnnotationAssertion( "MESH:C566619"^^xsd:string) AnnotationAssertion( "EVR4"^^xsd:string) AnnotationAssertion( "exudative vitreoretinopathy 4, autosomal dominant"^^xsd:string) AnnotationAssertion( "exudative vitreoretinopathy 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "exudative vitreoretinopathy 4, digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111411"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exudative vitreoretinopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12172548"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133780"^^xsd:string) AnnotationAssertion( "MESH:C536382"^^xsd:string) AnnotationAssertion( "MONDO:0007589"^^xsd:string) AnnotationAssertion( "NCI:C175048"^^xsd:string) AnnotationAssertion( "ORDO:90050"^^xsd:string) AnnotationAssertion( "Criswick-Schepens syndrome"^^xsd:string) AnnotationAssertion( "EVR1"^^xsd:string) AnnotationAssertion( "FEVR, autosomal dominant"^^xsd:string) AnnotationAssertion( "familial exudative vitreoretinopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "ROP"^^xsd:string) AnnotationAssertion( "retinopathy of prematurity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111412"^^xsd:string) AnnotationAssertion(rdfs:label "exudative vitreoretinopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked exudative vitreoretinopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8252044"^^xsd:string) "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:305390"^^xsd:string) AnnotationAssertion( "MESH:C564428"^^xsd:string) AnnotationAssertion( "EVR2"^^xsd:string) AnnotationAssertion( "EVRX"^^xsd:string) AnnotationAssertion( "FEVR, X-Linked"^^xsd:string) AnnotationAssertion( "FEVRX"^^xsd:string) AnnotationAssertion( "X-linked exudative vitreoretinopathy"^^xsd:string) AnnotationAssertion( "familial exudative vitreoretinopathy, 2"^^xsd:string) AnnotationAssertion( "familial exudative vitreoretinopathy, X-linked recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111413"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked exudative vitreoretinopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichohepatoenteric syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28944135"^^xsd:string) "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5258"^^xsd:string) AnnotationAssertion( "MESH:C565627"^^xsd:string) AnnotationAssertion( "MIM:PS222470"^^xsd:string) AnnotationAssertion( "ORDO:84064"^^xsd:string) AnnotationAssertion( "SD/THE"^^xsd:string) AnnotationAssertion( "THE syndrome"^^xsd:string) AnnotationAssertion( "THES"^^xsd:string) AnnotationAssertion( "fatal infantile diarrhea with trichorrhexis nodosa"^^xsd:string) AnnotationAssertion( "phenotypic diarrhea"^^xsd:string) AnnotationAssertion( "syndromic diarrhea"^^xsd:string) AnnotationAssertion( "syndromic diarrhea/tricho-hepato-enteric syndrome"^^xsd:string) AnnotationAssertion( "tricho-hepato-enteric syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111414"^^xsd:string) AnnotationAssertion(rdfs:label "trichohepatoenteric syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichohepatoenteric syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20176027"^^xsd:string) "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222470"^^xsd:string) AnnotationAssertion( "SKIC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "THES1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111415"^^xsd:string) AnnotationAssertion(rdfs:label "trichohepatoenteric syndrome 1"^^xsd:string) SubClassOf( ) # Class: (trichohepatoenteric syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22444670"^^xsd:string) "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614602"^^xsd:string) AnnotationAssertion( "SKIC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "THES2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111416"^^xsd:string) AnnotationAssertion(rdfs:label "trichohepatoenteric syndrome 2"^^xsd:string) SubClassOf( ) # Class: (familial chylomicronemia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string) "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:444490"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111417"^^xsd:string) AnnotationAssertion(rdfs:label "familial chylomicronemia syndrome"^^xsd:string) SubClassOf( ) # Class: (familial apolipoprotein C-II deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3467353"^^xsd:string) "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:207750"^^xsd:string) AnnotationAssertion( "ORDO:309020"^^xsd:string) AnnotationAssertion( "APOC2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "Apolipoprotein C II Deficiency"^^xsd:string) AnnotationAssertion( "Apolipoprotein C-II Deficiencies"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type Ib"^^xsd:string) AnnotationAssertion( "Type Ib Hyperlipoproteinemias"^^xsd:string) AnnotationAssertion( "familial APOC2 deficiency"^^xsd:string) AnnotationAssertion( "familial apoC-II deficiency"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemia, type 1b"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111418"^^xsd:string) AnnotationAssertion(rdfs:label "familial apolipoprotein C-II deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial chylomicronemia due to inhibition of lipoprotein lipase activity) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6833877"^^xsd:string) "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118830"^^xsd:string) AnnotationAssertion( "MESH:C566126"^^xsd:string) AnnotationAssertion( "familial chylomicronemia due to circulating inhibitor of lipoprotein lipase"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemia type 1C"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemia type IC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111419"^^xsd:string) AnnotationAssertion(rdfs:label "familial chylomicronemia due to inhibition of lipoprotein lipase activity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial GPIHBP1 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17883852"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string) "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615947"^^xsd:string) AnnotationAssertion( "ORDO:535458"^^xsd:string) AnnotationAssertion( "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemia type 1D"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemia type ID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111420"^^xsd:string) AnnotationAssertion(rdfs:label "familial GPIHBP1 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial apolipoprotein A5 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16200213"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string) "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:144650"^^xsd:string) AnnotationAssertion( "ORDO:530849"^^xsd:string) AnnotationAssertion( "familial APOA5 deficiency"^^xsd:string) AnnotationAssertion( "familial apolipoprotein A-V deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111421"^^xsd:string) AnnotationAssertion(rdfs:label "familial apolipoprotein A5 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial lipase maturation factor 1 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17994020"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23525082"^^xsd:string) "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:246650"^^xsd:string) AnnotationAssertion( "MESH:C535904"^^xsd:string) AnnotationAssertion( "NCI:C126558"^^xsd:string) AnnotationAssertion( "ORDO:535453"^^xsd:string) AnnotationAssertion( "LMF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency"^^xsd:string) AnnotationAssertion( "Lpl And Hl Deficiency"^^xsd:string) AnnotationAssertion( "Lpl And Htgl Deficiency"^^xsd:string) AnnotationAssertion( "combined lipase deficiency"^^xsd:string) AnnotationAssertion( "familial LMF1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111422"^^xsd:string) AnnotationAssertion(rdfs:label "familial lipase maturation factor 1 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (branchiootorenal syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9020840"^^xsd:string) "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113650"^^xsd:string) AnnotationAssertion( "BOR1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111423"^^xsd:string) AnnotationAssertion(rdfs:label "branchiootorenal syndrome 1"^^xsd:string) SubClassOf( ) # Class: (branchiootorenal syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17357085"^^xsd:string) "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610896"^^xsd:string) AnnotationAssertion( "BOR2"^^xsd:string) AnnotationAssertion( "SIX5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111424"^^xsd:string) AnnotationAssertion(rdfs:label "branchiootorenal syndrome 2"^^xsd:string) SubClassOf( ) # Class: (restrictive cardiomyopathy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12531876"^^xsd:string) "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115210"^^xsd:string) AnnotationAssertion( "MESH:C566168"^^xsd:string) AnnotationAssertion( "RCM"^^xsd:string) AnnotationAssertion( "RCM1"^^xsd:string) AnnotationAssertion( "familial restrictive cardiomyopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111425"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive cardiomyopathy 1"^^xsd:string) SubClassOf( ) # Class: (restrictive cardiomyopathy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16061566"^^xsd:string) "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609578"^^xsd:string) AnnotationAssertion( "MESH:C566512"^^xsd:string) AnnotationAssertion( "RCM2"^^xsd:string) AnnotationAssertion( "familial restrictive cardiomyopathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111426"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive cardiomyopathy 2"^^xsd:string) SubClassOf( ) # Class: (restrictive cardiomyopathy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16651346"^^xsd:string) "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612422"^^xsd:string) AnnotationAssertion( "MESH:C567316"^^xsd:string) AnnotationAssertion( "RCM3"^^xsd:string) AnnotationAssertion( "familial restrictive cardiomyopathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111427"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive cardiomyopathy 3"^^xsd:string) SubClassOf( ) # Class: (essential tremor 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16650084"^^xsd:string) "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:190300"^^xsd:string) AnnotationAssertion( "MESH:C536545"^^xsd:string) AnnotationAssertion( "ETM1"^^xsd:string) AnnotationAssertion( "FET1"^^xsd:string) AnnotationAssertion( "Hereditary Essential Tremor, 1"^^xsd:string) AnnotationAssertion( "familial essential tremor 1"^^xsd:string) AnnotationAssertion( "HAND TREMOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111428"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (essential tremor 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9399207"^^xsd:string) "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602134"^^xsd:string) AnnotationAssertion( "MESH:C536546"^^xsd:string) AnnotationAssertion( "ETM2"^^xsd:string) AnnotationAssertion( "hereditary essential tremor 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111429"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (essential tremor 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16702189"^^xsd:string) "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611456"^^xsd:string) AnnotationAssertion( "MESH:C566949"^^xsd:string) AnnotationAssertion( "ETM3"^^xsd:string) AnnotationAssertion( "hereditary essential tremor 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111430"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 3"^^xsd:string) SubClassOf( ) # Class: (essential tremor 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22863194"^^xsd:string) "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "FUS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614782"^^xsd:string) AnnotationAssertion( "ETM4"^^xsd:string) AnnotationAssertion( "hereditary essential tremor 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111431"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (essential tremor 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26188006"^^xsd:string) "An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616736"^^xsd:string) AnnotationAssertion( "ETM5"^^xsd:string) AnnotationAssertion( "hereditary essential tremor 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111432"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15342707"^^xsd:string) "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:165300"^^xsd:string) AnnotationAssertion( "GARD:10203"^^xsd:string) AnnotationAssertion( "MESH:C537128"^^xsd:string) AnnotationAssertion( "ORDO:67036"^^xsd:string) AnnotationAssertion( "ADOAC"^^xsd:string) AnnotationAssertion( "OPA3"^^xsd:string) AnnotationAssertion( "OPA3, autosomal dominant"^^xsd:string) AnnotationAssertion( "autosomal dominant optic atrophy type 3"^^xsd:string) AnnotationAssertion( "optic atrophy 3 with cataract"^^xsd:string) AnnotationAssertion( "optic atrophy 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "optic atrophy and cataract, autosomal dominant"^^xsd:string) AnnotationAssertion( "optic atrophy, cataract, and neurologic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111433"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26593267"^^xsd:string) "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616732"^^xsd:string) AnnotationAssertion( "OPA10"^^xsd:string) AnnotationAssertion( "RTN4IP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "optic atrophy 10 with or without ataxia, impaired intellectual development and seizures"^^xsd:string) AnnotationAssertion( "optic atrophy 10 with or without ataxia, mental retardation, and seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111434"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14508503"^^xsd:string) "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258500"^^xsd:string) AnnotationAssertion( "MESH:C537127"^^xsd:string) AnnotationAssertion( "OPA6"^^xsd:string) AnnotationAssertion( "Optic atrophy, congenital or early infantile, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111435"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27495975"^^xsd:string) "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617302"^^xsd:string) AnnotationAssertion( "OPA11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111436"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19327736"^^xsd:string) "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612989"^^xsd:string) AnnotationAssertion( "MESH:C567833"^^xsd:string) AnnotationAssertion( "OPA7"^^xsd:string) AnnotationAssertion( "optic atrophy 7 with or without auditory neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111437"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28969390"^^xsd:string) "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610708"^^xsd:string) AnnotationAssertion( "DNM1L-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C537126"^^xsd:string) AnnotationAssertion( "OPA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111438"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21349918"^^xsd:string) "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616648"^^xsd:string) AnnotationAssertion( "OPA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111439"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10369594"^^xsd:string) "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605293"^^xsd:string) AnnotationAssertion( "MESH:C565343"^^xsd:string) AnnotationAssertion( "OPA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111440"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11017079"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11017080"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9514489"^^xsd:string) "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "MIM:165500"^^xsd:string) AnnotationAssertion( "MESH:D029241"^^xsd:string) AnnotationAssertion( "NCI:C169000"^^xsd:string) AnnotationAssertion( "NCI:C84577"^^xsd:string) AnnotationAssertion( "Dominant Optic Atrophy"^^xsd:string) AnnotationAssertion( "Juvenile Optic Atrophies"^^xsd:string) AnnotationAssertion( "Juvenile Optic Atrophy"^^xsd:string) AnnotationAssertion( "Kjer Optic Atrophy"^^xsd:string) AnnotationAssertion( "Kjer Type Optic Atrophy"^^xsd:string) AnnotationAssertion( "Kjer's Optic Atrophy"^^xsd:string) AnnotationAssertion( "Kjer-Type Optic Atrophies"^^xsd:string) AnnotationAssertion( "Kjers Optic Atrophy"^^xsd:string) AnnotationAssertion( "OAK"^^xsd:string) AnnotationAssertion( "OPA1"^^xsd:string) AnnotationAssertion( "autosomal dominant optic atrophy Kjer type"^^xsd:string) AnnotationAssertion( "dominant optic atrophies"^^xsd:string) AnnotationAssertion( "hereditary optic atrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "hereditary optic atrophy, dominant"^^xsd:string) AnnotationAssertion( "optic atrophy type 1"^^xsd:string) AnnotationAssertion( "optic atrophy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111441"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25351951"^^xsd:string) "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "ACO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACO2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616289"^^xsd:string) AnnotationAssertion( "OPA9"^^xsd:string) AnnotationAssertion( "OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111442"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic atrophy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9382106"^^xsd:string) "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311050"^^xsd:string) AnnotationAssertion( "MESH:C537125"^^xsd:string) AnnotationAssertion( "OPA2"^^xsd:string) AnnotationAssertion( "OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET"^^xsd:string) AnnotationAssertion( "X-linked optic atrophy"^^xsd:string) AnnotationAssertion( "X-linked optic atrophy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111443"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15364701"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19847901"^^xsd:string) "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254900"^^xsd:string) AnnotationAssertion( "ORDO:163696"^^xsd:string) AnnotationAssertion( "AMRF"^^xsd:string) AnnotationAssertion( "EPM4"^^xsd:string) AnnotationAssertion( "action myoclonus-renal failure syndrome"^^xsd:string) AnnotationAssertion( "myoclonus nephropathy syndrome"^^xsd:string) AnnotationAssertion( "myoclonus-nephropathy syndromes"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 4"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 4, with or without renal failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111444"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22961547"^^xsd:string) "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616640"^^xsd:string) AnnotationAssertion( "ORDO:324290"^^xsd:string) AnnotationAssertion( "EPM10"^^xsd:string) AnnotationAssertion( "early-onset Lafora body disease"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111445"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17455289"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22748208"^^xsd:string) "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611726"^^xsd:string) AnnotationAssertion( "GARD:2167"^^xsd:string) AnnotationAssertion( "MESH:C567095"^^xsd:string) AnnotationAssertion( "ORDO:263516"^^xsd:string) AnnotationAssertion( "CLN14"^^xsd:string) AnnotationAssertion( "CLN14 disease"^^xsd:string) AnnotationAssertion( "EPM3"^^xsd:string) AnnotationAssertion( "Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions"^^xsd:string) AnnotationAssertion( "PME type 3"^^xsd:string) AnnotationAssertion( "Progressive Myoclonic Epilepsy 3"^^xsd:string) AnnotationAssertion( "Progressive myoclonic epilepsy due to KCTD7 deficiency"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis 14"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy type 3"^^xsd:string) AnnotationAssertion( "EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111446"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25401298"^^xsd:string) "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616187"^^xsd:string) AnnotationAssertion( "NCI:C142804"^^xsd:string) AnnotationAssertion( "ORDO:435438"^^xsd:string) AnnotationAssertion( "EPM7"^^xsd:string) AnnotationAssertion( "KCNC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MEAK"^^xsd:string) AnnotationAssertion( "PME type 7"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7"^^xsd:string) AnnotationAssertion( "Progressive myoclonic epilepsy due to KV3.1 deficiency"^^xsd:string) AnnotationAssertion( "myoclonus epilepsy and ataxia due to potassium channel mutation"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 7"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy type 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111447"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18976727"^^xsd:string) "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612437"^^xsd:string) AnnotationAssertion( "MESH:C580388"^^xsd:string) AnnotationAssertion( "EPM1B"^^xsd:string) AnnotationAssertion( "PRICKLE1-related progressive myoclonic epilepsy with ataxia"^^xsd:string) AnnotationAssertion( "PRICKLE1-related progressive myoclonus epilepsy with ataxia"^^xsd:string) AnnotationAssertion( "Pme with Ataxia"^^xsd:string) AnnotationAssertion( "Progressive Myoclonic Epilepsy 1b"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111448"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21549339"^^xsd:string) "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3872"^^xsd:string) AnnotationAssertion( "MIM:614018"^^xsd:string) AnnotationAssertion( "ORDO:280620"^^xsd:string) AnnotationAssertion( "EPM6"^^xsd:string) AnnotationAssertion( "GOSR2-related progressive myoclonus ataxia"^^xsd:string) AnnotationAssertion( "North Sea progressive myoclonus epilepsy"^^xsd:string) AnnotationAssertion( "PME type 6"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 6"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111449"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25954030"^^xsd:string) "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616540"^^xsd:string) AnnotationAssertion( "ORDO:457265"^^xsd:string) AnnotationAssertion( "EMP9"^^xsd:string) AnnotationAssertion( "EPM9"^^xsd:string) AnnotationAssertion( "PME type 9"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 9"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy due to LMNB2 deficiency"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy type 9"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111450"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19243074"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24782409"^^xsd:string) "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616230"^^xsd:string) AnnotationAssertion( "ORDO:424027"^^xsd:string) AnnotationAssertion( "EMP8"^^xsd:string) AnnotationAssertion( "EPM8"^^xsd:string) AnnotationAssertion( "PME type 8"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 8"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy due to CERS1 deficiency"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111451"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8596935"^^xsd:string) "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254800"^^xsd:string) AnnotationAssertion( "EPM1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111452"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (2-aminoadipic 2-oxoadipic aciduria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23141293"^^xsd:string) "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. (DO)"^^xsd:string) AnnotationAssertion( "DHTKD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:204750"^^xsd:string) AnnotationAssertion( "ORDO:79154"^^xsd:string) AnnotationAssertion( "2-ketoadipic aciduria"^^xsd:string) AnnotationAssertion( "AAKAD"^^xsd:string) AnnotationAssertion( "AMOXAD"^^xsd:string) AnnotationAssertion( "alpha-aminoadipic aciduria"^^xsd:string) AnnotationAssertion( "alpha-aminoadipic and alpha-ketoadipic aciduria"^^xsd:string) AnnotationAssertion( "aminoadipic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111453"^^xsd:string) AnnotationAssertion(rdfs:label "2-aminoadipic 2-oxoadipic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SHORT syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23810382"^^xsd:string) "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:269880"^^xsd:string) AnnotationAssertion( "GARD:7633"^^xsd:string) AnnotationAssertion( "MESH:C537327"^^xsd:string) AnnotationAssertion( "ORDO:3163"^^xsd:string) AnnotationAssertion( "Aarskog-Ose-Pande syndrome"^^xsd:string) AnnotationAssertion( "Rieger anomaly-partial lipodystrophy syndrome"^^xsd:string) AnnotationAssertion( "lipodystrophy-Rieger anomaly-diabetes syndrome"^^xsd:string) AnnotationAssertion( "partial lipodystrophy with Rieger anomaly and short stature"^^xsd:string) AnnotationAssertion( "short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111454"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GRACILE syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12215968"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9482441"^^xsd:string) "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603358"^^xsd:string) AnnotationAssertion( "BCS1L-related disorder"^^xsd:string) AnnotationAssertion( "GARD:1"^^xsd:string) AnnotationAssertion( "MESH:C537934"^^xsd:string) AnnotationAssertion( "MONDO:0011308"^^xsd:string) AnnotationAssertion( "ORDO:53693"^^xsd:string) AnnotationAssertion( "FLNMS"^^xsd:string) AnnotationAssertion( "Fellman disease"^^xsd:string) AnnotationAssertion( "Fellman syndrome"^^xsd:string) AnnotationAssertion( "Finnish Lethal Neonatal Metabolic Syndrome"^^xsd:string) AnnotationAssertion( "Finnish lactic acidosis with hepatic hemosiderosis"^^xsd:string) AnnotationAssertion( "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"^^xsd:string) AnnotationAssertion( "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"^^xsd:string) AnnotationAssertion( "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death"^^xsd:string) AnnotationAssertion( "neonatal lactic acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111455"^^xsd:string) AnnotationAssertion(rdfs:label "GRACILE syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kaufman oculocerebrofacial syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23200864"^^xsd:string) "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:244450"^^xsd:string) AnnotationAssertion( "GARD:3084"^^xsd:string) AnnotationAssertion( "MESH:C537013"^^xsd:string) AnnotationAssertion( "ORDO:2707"^^xsd:string) AnnotationAssertion( "BPID syndrome"^^xsd:string) AnnotationAssertion( "BPIDS"^^xsd:string) AnnotationAssertion( "KOS"^^xsd:string) AnnotationAssertion( "blepharophimosis-ptosis-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "blepharophimosis-ptosis-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "oculocerebrofacial syndrome, Kaufman type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111456"^^xsd:string) AnnotationAssertion(rdfs:label "Kaufman oculocerebrofacial syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (STING-associated vasculopathy with onset in infancy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25029335"^^xsd:string) "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12357"^^xsd:string) AnnotationAssertion( "MIM:615934"^^xsd:string) AnnotationAssertion( "NCI:C177547"^^xsd:string) AnnotationAssertion( "ORDO:425120"^^xsd:string) AnnotationAssertion( "SAVI"^^xsd:string) AnnotationAssertion( "STING-associated vasculopathy, infantile-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111457"^^xsd:string) AnnotationAssertion(rdfs:label "STING-associated vasculopathy with onset in infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (galactose epimerase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8593531"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9700591"^^xsd:string) "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5392"^^xsd:string) AnnotationAssertion( "MIM:230350"^^xsd:string) AnnotationAssertion( "ORDO:79238"^^xsd:string) AnnotationAssertion( "GALAC3"^^xsd:string) AnnotationAssertion( "GALE Deficiencies"^^xsd:string) AnnotationAssertion( "GALE Deficiency"^^xsd:string) AnnotationAssertion( "GALE-D"^^xsd:string) AnnotationAssertion( "Galactosemia 3"^^xsd:string) AnnotationAssertion( "Galactosemia III"^^xsd:string) AnnotationAssertion( "UDP Galactose 4 Epimerase Deficiency"^^xsd:string) AnnotationAssertion( "UDP Galactose 4 Epimerase Deficiency Disease"^^xsd:string) AnnotationAssertion( "UDP-Galactose-4-Epimerase Deficiencies"^^xsd:string) AnnotationAssertion( "UDP-galactose-4-epimerase deficiency diseases"^^xsd:string) AnnotationAssertion( "UDPglucose-4-epimerase deficiency"^^xsd:string) AnnotationAssertion( "UDPglucose-4-epimerase deficiency disease"^^xsd:string) AnnotationAssertion( "epimerase deficiency galactosemia"^^xsd:string) AnnotationAssertion( "epimerase deficiency galactosemias"^^xsd:string) AnnotationAssertion( "galactose epimerase deficiencies"^^xsd:string) AnnotationAssertion( "galactosemia type 3"^^xsd:string) AnnotationAssertion( "uridine diphosphate galactose-4-epimerase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111458"^^xsd:string) AnnotationAssertion(rdfs:label "galactose epimerase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (classic galactosemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11261429"^^xsd:string) "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13639"^^xsd:string) AnnotationAssertion( "MIM:230400"^^xsd:string) AnnotationAssertion( "NCI:C99104"^^xsd:string) AnnotationAssertion( "ORDO:79239"^^xsd:string) AnnotationAssertion( "GALAC1"^^xsd:string) AnnotationAssertion( "GALT deficiencies"^^xsd:string) AnnotationAssertion( "GALT deficiency"^^xsd:string) AnnotationAssertion( "GALT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Galactose 1 Phosphate Uridyl Transferase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Galactose 1 Phosphate Uridyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Galactose 1 Phosphate Uridylyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Galactose-1-Phosphate Uridyltransferase Deficiencies"^^xsd:string) AnnotationAssertion( "classic galactosemias"^^xsd:string) AnnotationAssertion( "galactosemia I"^^xsd:string) AnnotationAssertion( "galactosemia type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111459"^^xsd:string) AnnotationAssertion(rdfs:label "classic galactosemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16474404"^^xsd:string) "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:115150"^^xsd:string) AnnotationAssertion( "CFC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111460"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16474404"^^xsd:string) "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615278"^^xsd:string) AnnotationAssertion( "CFC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111461"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16439621"^^xsd:string) "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. (DO)"^^xsd:string) AnnotationAssertion( "MAP2K1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615279"^^xsd:string) AnnotationAssertion( "CFC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111462"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiofaciocutaneous syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20358587"^^xsd:string) "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615280"^^xsd:string) AnnotationAssertion( "CFC4"^^xsd:string) AnnotationAssertion( "MAP2K2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111463"^^xsd:string) AnnotationAssertion(rdfs:label "cardiofaciocutaneous syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 35) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24901367"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28185376"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617873"^^xsd:string) AnnotationAssertion( "COXPD35"^^xsd:string) AnnotationAssertion( "TRIT1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111464"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 21) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24827421"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009032"^^xsd:string) AnnotationAssertion( "MIM:615918"^^xsd:string) AnnotationAssertion( "MONDO:0014398"^^xsd:string) AnnotationAssertion( "ORDO:420733"^^xsd:string) AnnotationAssertion( "COXPD21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111465"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30358850"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-07T15:36:47Z"^^xsd:string) AnnotationAssertion( "MIM:618378"^^xsd:string) AnnotationAssertion( "MONDO:0032712"^^xsd:string) AnnotationAssertion( "COXPD38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111466"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23084291"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614932"^^xsd:string) AnnotationAssertion( "COXPD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111467"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 25) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25754315"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009035"^^xsd:string) AnnotationAssertion( "MIM:616430"^^xsd:string) AnnotationAssertion( "ORDO:447954"^^xsd:string) AnnotationAssertion( "COXPD25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111468"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 16) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23315540"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12892"^^xsd:string) AnnotationAssertion( "MIM:615395"^^xsd:string) AnnotationAssertion( "ORDO:352563"^^xsd:string) AnnotationAssertion( "COXPD16"^^xsd:string) AnnotationAssertion( "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111469"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 28) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27132592"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-27T09:30:20Z"^^xsd:string) AnnotationAssertion( "MIM:616794"^^xsd:string) AnnotationAssertion( "ORDO:466784"^^xsd:string) AnnotationAssertion( "COXPD28"^^xsd:string) AnnotationAssertion( "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111470"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 30) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27132592"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009038"^^xsd:string) AnnotationAssertion( "MIM:616974"^^xsd:string) AnnotationAssertion( "ORDO:478042"^^xsd:string) AnnotationAssertion( "COXPD30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111471"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21786366"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614582"^^xsd:string) AnnotationAssertion( "ORDO:319509"^^xsd:string) AnnotationAssertion( "COXPD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111472"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17873122"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21189481"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611719"^^xsd:string) AnnotationAssertion( "MESH:C567126"^^xsd:string) AnnotationAssertion( "ORDO:137908"^^xsd:string) AnnotationAssertion( "COXPD5"^^xsd:string) AnnotationAssertion( "hypotonia with lactic acidemia and hyperammonemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111473"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609060"^^xsd:string) AnnotationAssertion( "MESH:C563797"^^xsd:string) AnnotationAssertion( "NCI:C125663"^^xsd:string) AnnotationAssertion( "ORDO:137681"^^xsd:string) AnnotationAssertion( "COXPD1"^^xsd:string) AnnotationAssertion( "GFM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "early fatal progressive hepatoencephalopathy"^^xsd:string) AnnotationAssertion( "hepatoencephalopathy due to COXPD1"^^xsd:string) AnnotationAssertion( "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111474"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22700954"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618397"^^xsd:string) AnnotationAssertion( "COXPD39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111475"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 39"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23814038"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615595"^^xsd:string) AnnotationAssertion( "ORDO:397593"^^xsd:string) AnnotationAssertion( "COXPD19"^^xsd:string) AnnotationAssertion( "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111476"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22499341"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22833457"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614946"^^xsd:string) AnnotationAssertion( "ORDO:319519"^^xsd:string) AnnotationAssertion( "COXPD14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111477"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25058219"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615917"^^xsd:string) AnnotationAssertion( "ORDO:420728"^^xsd:string) AnnotationAssertion( "COXPD20"^^xsd:string) AnnotationAssertion( "VARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VARS2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111478"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21549344"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614096"^^xsd:string) AnnotationAssertion( "NCI:C180851"^^xsd:string) AnnotationAssertion( "ORDO:319504"^^xsd:string) AnnotationAssertion( "COXPD8"^^xsd:string) AnnotationAssertion( "fatal infantile mitochondrial cardiomyopathy"^^xsd:string) AnnotationAssertion( "hypertrophic mitochondrial cardiomyopathy, fatal infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111479"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22608499"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614702"^^xsd:string) AnnotationAssertion( "ORDO:314637"^^xsd:string) AnnotationAssertion( "COXPD10"^^xsd:string) AnnotationAssertion( "infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis"^^xsd:string) AnnotationAssertion( "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111480"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23022099"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614922"^^xsd:string) AnnotationAssertion( "ORDO:324535"^^xsd:string) AnnotationAssertion( "COXPD11"^^xsd:string) AnnotationAssertion( "infantile encephaloneuromyopathy, due to mitochondrial translation defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111481"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29576219"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617950"^^xsd:string) AnnotationAssertion( "COXPD36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111482"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 36"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15505824"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610498"^^xsd:string) AnnotationAssertion( "MESH:C566468"^^xsd:string) AnnotationAssertion( "ORDO:254920"^^xsd:string) AnnotationAssertion( "COXPD2"^^xsd:string) AnnotationAssertion( "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111483"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24119684"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615578"^^xsd:string) AnnotationAssertion( "ORDO:391348"^^xsd:string) AnnotationAssertion( "COXPD18"^^xsd:string) AnnotationAssertion( "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111484"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25385316"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25629079"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28077841"^^xsd:string) "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009034"^^xsd:string) AnnotationAssertion( "MIM:616239"^^xsd:string) AnnotationAssertion( "ORDO:444458"^^xsd:string) AnnotationAssertion( "COXPD24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111485"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17033963"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25037205"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T09:16:15Z"^^xsd:string) AnnotationAssertion( "MIM:610505"^^xsd:string) AnnotationAssertion( "MESH:C566467"^^xsd:string) AnnotationAssertion( "ORDO:168566"^^xsd:string) AnnotationAssertion( "COXPD3"^^xsd:string) AnnotationAssertion( "concentric cardiomyopathy, hypotonia, and lactic acidosis"^^xsd:string) AnnotationAssertion( "encephalomyopathy, respiratory failure, and lactic acidosis"^^xsd:string) AnnotationAssertion( "fatal mitochondrial disease due to COXPD3"^^xsd:string) AnnotationAssertion( "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111486"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20598281"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613559"^^xsd:string) AnnotationAssertion( "ORDO:254930"^^xsd:string) AnnotationAssertion( "COXPD7"^^xsd:string) AnnotationAssertion( "severe C12ORF65-related COXPD"^^xsd:string) AnnotationAssertion( "severe C12ORF65-related combined oxidative phosphorylation defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111487"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 31) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27799064"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617228"^^xsd:string) AnnotationAssertion( "ORDO:478049"^^xsd:string) AnnotationAssertion( "COXPD31"^^xsd:string) AnnotationAssertion( "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111488"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 31"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25361775"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25787132"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009037"^^xsd:string) AnnotationAssertion( "MIM:616672"^^xsd:string) AnnotationAssertion( "NCI:C185238"^^xsd:string) AnnotationAssertion( "ORDO:477774"^^xsd:string) AnnotationAssertion( "COXPD27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111489"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 26) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26189817"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009036"^^xsd:string) AnnotationAssertion( "MIM:616539"^^xsd:string) AnnotationAssertion( "ORDO:477684"^^xsd:string) AnnotationAssertion( "COXPD26"^^xsd:string) AnnotationAssertion( "PNSED"^^xsd:string) AnnotationAssertion( "peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111490"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21907147"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614947"^^xsd:string) AnnotationAssertion( "ORDO:319524"^^xsd:string) AnnotationAssertion( "COXPD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111491"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 32) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28777931"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617664"^^xsd:string) AnnotationAssertion( "COXPD32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111492"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 32"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22492562"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23008233"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13381"^^xsd:string) AnnotationAssertion( "MIM:614924"^^xsd:string) AnnotationAssertion( "ORDO:314051"^^xsd:string) AnnotationAssertion( "COXPD12"^^xsd:string) AnnotationAssertion( "LTBL"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with thalamus and brainstem involvement and high lactate"^^xsd:string) AnnotationAssertion( "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111493"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 12"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17160893"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610678"^^xsd:string) AnnotationAssertion( "MESH:C565690"^^xsd:string) AnnotationAssertion( "ORDO:254925"^^xsd:string) AnnotationAssertion( "COXPD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111494"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 33) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28942965"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "RDO:9005147"^^xsd:string) AnnotationAssertion( "EFO:0009159"^^xsd:string) AnnotationAssertion( "MIM:617713"^^xsd:string) AnnotationAssertion( "NCI:C174440"^^xsd:string) AnnotationAssertion( "COXPD33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111495"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 33"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 17) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23849775"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615440"^^xsd:string) AnnotationAssertion( "ORDO:369913"^^xsd:string) AnnotationAssertion( "COXPD17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111496"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 34) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25556185"^^xsd:string) "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617872"^^xsd:string) AnnotationAssertion( "ORDO:457223"^^xsd:string) AnnotationAssertion( "COXPD34"^^xsd:string) AnnotationAssertion( "syndromic sensorineural deafness due to COXPD"^^xsd:string) AnnotationAssertion( "syndromic sensorineural deafness due to combined oxidative phosphorylation defect"^^xsd:string) AnnotationAssertion( "syndromic sensorineural hearing loss due to COXPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111497"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23596069"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. (DO)"^^xsd:string) AnnotationAssertion( "ATP5F1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616045"^^xsd:string) AnnotationAssertion( "COXPD22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111498"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 37) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27485409"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618329"^^xsd:string) AnnotationAssertion( "COXPD37"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL HEPATO-ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111499"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 37"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25434004"^^xsd:string) "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009033"^^xsd:string) AnnotationAssertion( "MIM:616198"^^xsd:string) AnnotationAssertion( "NCI:C187986"^^xsd:string) AnnotationAssertion( "ORDO:444013"^^xsd:string) AnnotationAssertion( "COXPD23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111500"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 29) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26626369"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616811"^^xsd:string) AnnotationAssertion( "COXPD29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111501"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20362274"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300816"^^xsd:string) AnnotationAssertion( "ORDO:238329"^^xsd:string) AnnotationAssertion( "COXPD6"^^xsd:string) AnnotationAssertion( "X-linked mitochondrial encephalomyopathy"^^xsd:string) AnnotationAssertion( "mitochondrial encephalomyopathy due to COXPD6"^^xsd:string) AnnotationAssertion( "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"^^xsd:string) AnnotationAssertion( "severe X-linked mitochondrial encephalomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111502"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Li-Fraumeni syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1978757"^^xsd:string) "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004131"^^xsd:string) AnnotationAssertion( "MESH:C563754"^^xsd:string) AnnotationAssertion( "MIM:151623"^^xsd:string) AnnotationAssertion( "MESH:C538639"^^xsd:string) AnnotationAssertion( "LFS1"^^xsd:string) AnnotationAssertion( "LFL"^^xsd:string) AnnotationAssertion( "Li-Fraumeni -like syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LFS3"^^xsd:string) AnnotationAssertion( "Li-Fraumeni syndrome 3"^^xsd:string) AnnotationAssertion( "DOID:0111503"^^xsd:string) AnnotationAssertion(rdfs:label "Li-Fraumeni syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Li-Fraumeni syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11479205"^^xsd:string) "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609265"^^xsd:string) AnnotationAssertion( "MESH:C563755"^^xsd:string) AnnotationAssertion( "LFS2"^^xsd:string) AnnotationAssertion( "TPDS4"^^xsd:string) AnnotationAssertion( "cancer predisposition syndrome, CHEK2-related"^^xsd:string) AnnotationAssertion( "tumor predisposition syndrome 4"^^xsd:string) AnnotationAssertion( "tumor predisposition syndrome 4, breast/prostate/colorectal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Breast and colorectal cancer, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0111504"^^xsd:string) AnnotationAssertion(rdfs:label "Li-Fraumeni syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palmoplantar keratoderma-deafness syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10633135"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1532426"^^xsd:string) "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148350"^^xsd:string) AnnotationAssertion( "GARD:3094"^^xsd:string) AnnotationAssertion( "MESH:C536152"^^xsd:string) AnnotationAssertion( "ORDO:2202"^^xsd:string) AnnotationAssertion( "Hereditary palmoplantar keratoderma with deafness"^^xsd:string) AnnotationAssertion( "Keratoderma palmoplantar deafness"^^xsd:string) AnnotationAssertion( "PPK with deafness"^^xsd:string) AnnotationAssertion( "PPK-deafness syndrome"^^xsd:string) AnnotationAssertion( "Palmoplantar Hyperkeratosis-Deafness Syndrome"^^xsd:string) AnnotationAssertion( "Palmoplantar Hyperkeratosis-Hearing Loss Syndrome"^^xsd:string) AnnotationAssertion( "Palmoplantar Keratoderma with Deafness"^^xsd:string) AnnotationAssertion( "Palmoplantar Keratoderma-Hearing Loss Syndrome"^^xsd:string) AnnotationAssertion( "Palmoplantar keratoderma and sensorineural deafness"^^xsd:string) AnnotationAssertion( "diffuse palmoplantar keratoderma with deafness"^^xsd:string) AnnotationAssertion( "focal palmoplantar keratoderma with sensorineural deafness"^^xsd:string) AnnotationAssertion( "HEREDITARY PALMOPLANTAR KERATODERMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111505"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratoderma-deafness syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (palmoplantar keratoderma-esophageal carcinoma syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13579162"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22265016"^^xsd:string) "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148500"^^xsd:string) AnnotationAssertion( "GARD:3102"^^xsd:string) AnnotationAssertion( "MESH:C536164"^^xsd:string) AnnotationAssertion( "ORDO:2198"^^xsd:string) AnnotationAssertion( "Bennion-Patterson syndrome"^^xsd:string) AnnotationAssertion( "Howell Evans syndrome"^^xsd:string) AnnotationAssertion( "TOC"^^xsd:string) AnnotationAssertion( "keratosis palmaris et plantaris with esophageal cancer"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris with esophageal cancer"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris-esophageal carcinoma syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar hyperkeratosis-esophageal carcinoma syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma with esophageal cancer"^^xsd:string) AnnotationAssertion( "tylosis with esophageal cancer"^^xsd:string) AnnotationAssertion( "tylosis-oesophageal carcinoma syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111506"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratoderma-esophageal carcinoma syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lenz-Majewski hyperostotic dwarfism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24241535"^^xsd:string) "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:151050"^^xsd:string) AnnotationAssertion( "GARD:3223"^^xsd:string) AnnotationAssertion( "MESH:C537115"^^xsd:string) AnnotationAssertion( "ORDO:2658"^^xsd:string) AnnotationAssertion( "LMHD"^^xsd:string) AnnotationAssertion( "Lenz-Majewski hyperostosis syndrome"^^xsd:string) AnnotationAssertion( "Lenz-Majewski syndrome"^^xsd:string) AnnotationAssertion( "delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis"^^xsd:string) AnnotationAssertion( "multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111507"^^xsd:string) AnnotationAssertion(rdfs:label "Lenz-Majewski hyperostotic dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Torrance type platyspondylic dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14729840"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/448481"^^xsd:string) "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:151210"^^xsd:string) AnnotationAssertion( "GARD:4382"^^xsd:string) AnnotationAssertion( "MESH:C563627"^^xsd:string) AnnotationAssertion( "ORDO:85166"^^xsd:string) AnnotationAssertion( "PLSD-T"^^xsd:string) AnnotationAssertion( "PLSD-TL"^^xsd:string) AnnotationAssertion( "PLSDT"^^xsd:string) AnnotationAssertion( "Platyspondylic Chondrodysplasia, Torrance-Luton Type"^^xsd:string) AnnotationAssertion( "Platyspondylic Lethal Skeletal Dysplasia, Torrance Type"^^xsd:string) AnnotationAssertion( "Platyspondylic Skeletal Dysplasia, Torrance Type"^^xsd:string) AnnotationAssertion( "lethal short-limbed platyspondylic dwarfism, Torrance type"^^xsd:string) AnnotationAssertion( "lethal skeletal dysplasia"^^xsd:string) AnnotationAssertion( "platyspondylic dysplasia, Torrance-Luton type"^^xsd:string) AnnotationAssertion( "thanatophoric dysplasia, Torrance variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PLSDL"^^xsd:string) AnnotationAssertion( "Platyspondylic Lethal Skeletal Dysplasia, Luton Type"^^xsd:string) AnnotationAssertion( "thanatophoric dysplasia, Luton variant"^^xsd:string) AnnotationAssertion( "DOID:0111508"^^xsd:string) AnnotationAssertion(rdfs:label "Torrance type platyspondylic dysplasia"^^xsd:string) SubClassOf( ) # Class: (lymphedema-distichiasis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11078474"^^xsd:string) "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:153400"^^xsd:string) AnnotationAssertion( "GARD:333"^^xsd:string) AnnotationAssertion( "MESH:C537710"^^xsd:string) AnnotationAssertion( "NCI:C128191"^^xsd:string) AnnotationAssertion( "ORDO:33001"^^xsd:string) AnnotationAssertion( "LPHDST"^^xsd:string) AnnotationAssertion( "hereditary lymphedema-distichiasis syndrome"^^xsd:string) AnnotationAssertion( "lymphedema with distichiasis"^^xsd:string) AnnotationAssertion( "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111509"^^xsd:string) AnnotationAssertion(rdfs:label "lymphedema-distichiasis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marshall syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13520885"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25073711"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9529347"^^xsd:string) "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:154780"^^xsd:string) AnnotationAssertion( "GARD:6984"^^xsd:string) AnnotationAssertion( "MESH:C536025"^^xsd:string) AnnotationAssertion( "NCI:C128115"^^xsd:string) AnnotationAssertion( "ORDO:560"^^xsd:string) AnnotationAssertion( "Deafness, myopia, cataract, saddle nose-Marshall type"^^xsd:string) AnnotationAssertion( "MRSHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111510"^^xsd:string) AnnotationAssertion(rdfs:label "Marshall syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (melanoma and neural system tumor syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10797439"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8414022"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8635060"^^xsd:string) "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155755"^^xsd:string) AnnotationAssertion( "GARD:8468"^^xsd:string) AnnotationAssertion( "MESH:C536149"^^xsd:string) AnnotationAssertion( "NCI:C176905"^^xsd:string) AnnotationAssertion( "ORDO:252206"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma and cerebral astrocytoma"^^xsd:string) AnnotationAssertion( "melanoma astrocytoma syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111511"^^xsd:string) AnnotationAssertion(rdfs:label "melanoma and neural system tumor syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (metachondromatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20577567"^^xsd:string) "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156250"^^xsd:string) AnnotationAssertion( "GARD:3560"^^xsd:string) AnnotationAssertion( "MESH:C562938"^^xsd:string) AnnotationAssertion( "ORDO:2499"^^xsd:string) AnnotationAssertion( "METCDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111512"^^xsd:string) AnnotationAssertion(rdfs:label "metachondromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23290074"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7137223"^^xsd:string) "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156510"^^xsd:string) AnnotationAssertion( "RUNX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3568"^^xsd:string) AnnotationAssertion( "MESH:C563586"^^xsd:string) AnnotationAssertion( "ORDO:2504"^^xsd:string) AnnotationAssertion( "MDMHB"^^xsd:string) AnnotationAssertion( "metaphyseal dysplasia with maxillary hypoplasia and brachydactyly"^^xsd:string) AnnotationAssertion( "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"^^xsd:string) AnnotationAssertion( "metaphyseal dysplasia, maxillary hypoplasia, brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111513"^^xsd:string) AnnotationAssertion(rdfs:label "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (metatropic dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/metatropic-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18348257"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4963592"^^xsd:string) "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156530"^^xsd:string) AnnotationAssertion( "GARD:3571"^^xsd:string) AnnotationAssertion( "MESH:C537356"^^xsd:string) AnnotationAssertion( "NCI:C175209"^^xsd:string) AnnotationAssertion( "ORDO:2635"^^xsd:string) AnnotationAssertion( "metatrophic dysplasia"^^xsd:string) AnnotationAssertion( "metatropic dwarfism"^^xsd:string) AnnotationAssertion( "metatropic dysplasia 1"^^xsd:string) AnnotationAssertion( "metatropic dysplasia type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111514"^^xsd:string) AnnotationAssertion(rdfs:label "metatropic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26094573"^^xsd:string) "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)"^^xsd:string) AnnotationAssertion( "2012-12-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616479"^^xsd:string) AnnotationAssertion( "ORDO:329336"^^xsd:string) AnnotationAssertion( "PEOB2"^^xsd:string) AnnotationAssertion( "adult-onset CPEO with mitochondrial myopathy"^^xsd:string) AnnotationAssertion( "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"^^xsd:string) AnnotationAssertion( "autosomal recessive progressive external ophthalmoplegia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111515"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23043144"^^xsd:string) "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617070"^^xsd:string) AnnotationAssertion( "ORDO:329314"^^xsd:string) AnnotationAssertion( "PEOB4"^^xsd:string) AnnotationAssertion( "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"^^xsd:string) AnnotationAssertion( "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal recessive 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111516"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10926541"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563750"^^xsd:string) AnnotationAssertion( "MIM:609283"^^xsd:string) AnnotationAssertion( "MONDO:0012238"^^xsd:string) AnnotationAssertion( "PEOA2"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal dominant 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111517"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19664747"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613077"^^xsd:string) AnnotationAssertion( "MESH:C567768"^^xsd:string) AnnotationAssertion( "PEOA5"^^xsd:string) AnnotationAssertion( "autosomal dominant progressive external ophthalmoplegia 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111518"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23352259"^^xsd:string) "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. (DO)"^^xsd:string) AnnotationAssertion( "DNA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615156"^^xsd:string) AnnotationAssertion( "ORDO:352470"^^xsd:string) AnnotationAssertion( "DNA2-related mitochondrial DNA deletion syndrome"^^xsd:string) AnnotationAssertion( "PEOA6"^^xsd:string) AnnotationAssertion( "mitochondrial DNA deletion syndrome with limb-girdle weakness"^^xsd:string) AnnotationAssertion( "mitochondrial DNA deletion syndrome with progressive myopathy"^^xsd:string) AnnotationAssertion( "mtDNA deletion syndrome with limb-girdle weakness"^^xsd:string) AnnotationAssertion( "mtDNA deletion syndrome with progressive myopathy"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal dominant 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111519"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11431692"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563747"^^xsd:string) AnnotationAssertion( "MIM:609286"^^xsd:string) AnnotationAssertion( "MONDO:0012241"^^xsd:string) AnnotationAssertion( "PEOA3"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal dominant 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111520"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11431686"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:157640"^^xsd:string) AnnotationAssertion( "MESH:C563575"^^xsd:string) AnnotationAssertion( "PEOA1"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111521"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive progressive external ophthalmoplegia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11431686"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:258450"^^xsd:string) AnnotationAssertion( "PEOB1"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111522"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive progressive external ophthalmoplegia 1"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21937588"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617069"^^xsd:string) AnnotationAssertion( "PEOB3"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal recessive 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111523"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29290614"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618098"^^xsd:string) AnnotationAssertion( "PEOB5"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal recessive 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111524"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16685652"^^xsd:string) "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610131"^^xsd:string) AnnotationAssertion( "MESH:C566437"^^xsd:string) AnnotationAssertion( "PEOA4"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, autosomal dominant 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111525"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mullerian aplasia and hyperandrogenism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15317892"^^xsd:string) "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158330"^^xsd:string) AnnotationAssertion( "MESH:C567186"^^xsd:string) AnnotationAssertion( "NCI:C120376"^^xsd:string) AnnotationAssertion( "ORDO:247768"^^xsd:string) AnnotationAssertion( "Mullerian duct failure and hyperandrogenism"^^xsd:string) AnnotationAssertion( "WNT4 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111526"^^xsd:string) AnnotationAssertion(rdfs:label "Mullerian aplasia and hyperandrogenism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinal muscular atrophy with progressive myoclonic epilepsy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22703880"^^xsd:string) "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:159950"^^xsd:string) AnnotationAssertion( "GARD:3044"^^xsd:string) AnnotationAssertion( "GARD:3875"^^xsd:string) AnnotationAssertion( "MESH:C537563"^^xsd:string) AnnotationAssertion( "ORDO:2590"^^xsd:string) AnnotationAssertion( "Jankovic Rivera syndrome"^^xsd:string) AnnotationAssertion( "SMA-PME"^^xsd:string) AnnotationAssertion( "SMAPME"^^xsd:string) AnnotationAssertion( "hereditary myoclonus and progressive distal muscular atrophy"^^xsd:string) AnnotationAssertion( "hereditary myoclonus with progressive distal muscular atrophy"^^xsd:string) AnnotationAssertion( "hereditary myoclonus-progressive distal muscular atrophy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111527"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy with progressive myoclonic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Naegeli-Franceschetti-Jadassohn syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16960809"^^xsd:string) "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:161000"^^xsd:string) AnnotationAssertion( "GARD:3912"^^xsd:string) AnnotationAssertion( "MESH:C538331"^^xsd:string) AnnotationAssertion( "ORDO:69087"^^xsd:string) AnnotationAssertion( "NFJ syndrome"^^xsd:string) AnnotationAssertion( "NFJS"^^xsd:string) AnnotationAssertion( "Naegeli syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111528"^^xsd:string) AnnotationAssertion(rdfs:label "Naegeli-Franceschetti-Jadassohn syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial multiple nevi flammei) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16846771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6716409"^^xsd:string) "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9006628"^^xsd:string) AnnotationAssertion( "MIM:163000"^^xsd:string) AnnotationAssertion( "GARD:3986"^^xsd:string) AnnotationAssertion( "MESH:C535816"^^xsd:string) AnnotationAssertion( "MESH:C562760"^^xsd:string) AnnotationAssertion( "ORDO:624"^^xsd:string) AnnotationAssertion( "CMAL"^^xsd:string) AnnotationAssertion( "CMC"^^xsd:string) AnnotationAssertion( "Congenital Capillary Malformations"^^xsd:string) AnnotationAssertion( "capillary malformations"^^xsd:string) AnnotationAssertion( "congenital capillary malformations, 1"^^xsd:string) AnnotationAssertion( "familial multiple port-wine stains"^^xsd:string) AnnotationAssertion( "port-wine stain familial multiple"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111529"^^xsd:string) AnnotationAssertion(rdfs:label "familial multiple nevi flammei"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (linear nevus sebaceous syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17366580"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1918493"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22683711"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24006476"^^xsd:string) "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. (DO)"^^xsd:string) AnnotationAssertion( "MIM:163200"^^xsd:string) AnnotationAssertion( "EFO:1001841"^^xsd:string) AnnotationAssertion( "GARD:10291"^^xsd:string) AnnotationAssertion( "MESH:D054000"^^xsd:string) AnnotationAssertion( "ORDO:2612"^^xsd:string) AnnotationAssertion( "Feuerstein Mims syndrome"^^xsd:string) AnnotationAssertion( "JNP"^^xsd:string) AnnotationAssertion( "Jadassohn Nevus Phakomatosis"^^xsd:string) AnnotationAssertion( "Jadassohn Nevus Sebaceus"^^xsd:string) AnnotationAssertion( "Jadassohn Sebaceous Nevus"^^xsd:string) AnnotationAssertion( "Linear Sebaceous Nevus"^^xsd:string) AnnotationAssertion( "Linear Verrucous Epidermal Nevus"^^xsd:string) AnnotationAssertion( "Nevus Sebaceus of Jadassohn"^^xsd:string) AnnotationAssertion( "Organoid Nevus Phakomatoses"^^xsd:string) AnnotationAssertion( "Organoid Nevus Phakomatosis"^^xsd:string) AnnotationAssertion( "SFM"^^xsd:string) AnnotationAssertion( "SFM syndrome"^^xsd:string) AnnotationAssertion( "Schimmelpenning Feuerstein Mims Syndrome"^^xsd:string) AnnotationAssertion( "Schimmelpenning Syndrome"^^xsd:string) AnnotationAssertion( "Solomon syndrome"^^xsd:string) AnnotationAssertion( "epidermal nevus syndrome"^^xsd:string) AnnotationAssertion( "inflammatory linear verrucose epidermal nevus"^^xsd:string) AnnotationAssertion( "inflammatory linear verrucous epidermal naevus"^^xsd:string) AnnotationAssertion( "nevus sebaceus syndrome"^^xsd:string) AnnotationAssertion( "organoid nevus syndrome"^^xsd:string) AnnotationAssertion( "sebaceous nevus of Jadassohn"^^xsd:string) AnnotationAssertion( "verrucous epidermal nevus"^^xsd:string) AnnotationAssertion( "verrucous nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111530"^^xsd:string) AnnotationAssertion(rdfs:label "linear nevus sebaceous syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bilateral optic nerve hypoplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12721955"^^xsd:string) "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-25T12:06:43Z"^^xsd:string) AnnotationAssertion( "MIM:165550"^^xsd:string) AnnotationAssertion( "GARD:8419"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.03"^^xsd:string) AnnotationAssertion( "ICD9CM:377.43"^^xsd:string) AnnotationAssertion( "MESH:C537130"^^xsd:string) AnnotationAssertion( "MESH:C563492"^^xsd:string) AnnotationAssertion( "MESH:D000080344"^^xsd:string) AnnotationAssertion( "NCI:C101268"^^xsd:string) AnnotationAssertion( "NCI:C98999"^^xsd:string) AnnotationAssertion( "ORDO:137902"^^xsd:string) AnnotationAssertion( "ONH"^^xsd:string) AnnotationAssertion( "familial bilateral optic nerve hypoplasia"^^xsd:string) AnnotationAssertion( "isolated optic nerve hypoplasia/aplasia"^^xsd:string) AnnotationAssertion( "bilateral optic nerve aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111531"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral optic nerve hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteoglophonic dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15625620"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7422392"^^xsd:string) "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166250"^^xsd:string) AnnotationAssertion( "GARD:4142"^^xsd:string) AnnotationAssertion( "MESH:C536050"^^xsd:string) AnnotationAssertion( "ORDO:2645"^^xsd:string) AnnotationAssertion( "Fairbank-Keats syndrome"^^xsd:string) AnnotationAssertion( "OGD"^^xsd:string) AnnotationAssertion( "osteoglophonic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111532"^^xsd:string) AnnotationAssertion(rdfs:label "osteoglophonic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gnathodiaphyseal dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15124103"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23047743"^^xsd:string) "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:166260"^^xsd:string) AnnotationAssertion( "GARD:8698"^^xsd:string) AnnotationAssertion( "MESH:C536039"^^xsd:string) AnnotationAssertion( "ORDO:53697"^^xsd:string) AnnotationAssertion( "GDD"^^xsd:string) AnnotationAssertion( "Levin syndrome 2"^^xsd:string) AnnotationAssertion( "gnathodiaphyseal sclerosis"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with unusual skeletal lesions"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, Levin type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111533"^^xsd:string) AnnotationAssertion(rdfs:label "gnathodiaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multicentric carpotarsal osteolysis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22387013"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3041835"^^xsd:string) "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166300"^^xsd:string) AnnotationAssertion( "MAFB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3818"^^xsd:string) AnnotationAssertion( "MESH:C567171"^^xsd:string) AnnotationAssertion( "NCI:C178416"^^xsd:string) AnnotationAssertion( "ORDO:2774"^^xsd:string) AnnotationAssertion( "MCTO"^^xsd:string) AnnotationAssertion( "hereditary osteolysis of carpal bones with or without nephropathy"^^xsd:string) AnnotationAssertion( "idiopathic multicentric osteolysis with or without nephropathy"^^xsd:string) AnnotationAssertion( "multicentric carpo-tarsal osteolysis with or without nephropathy"^^xsd:string) AnnotationAssertion( "multicentric osteolysis nephropathy"^^xsd:string) AnnotationAssertion( "multicentric osteolysis, autosomal dominant"^^xsd:string) AnnotationAssertion( "carpal osteolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111534"^^xsd:string) AnnotationAssertion(rdfs:label "multicentric carpotarsal osteolysis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (progressive osseous heteroplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11784876"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8126048"^^xsd:string) "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T09:11:43Z"^^xsd:string) AnnotationAssertion( "MIM:166350"^^xsd:string) AnnotationAssertion( "GARD:109"^^xsd:string) AnnotationAssertion( "MESH:C562735"^^xsd:string) AnnotationAssertion( "NCI:C132062"^^xsd:string) AnnotationAssertion( "ORDO:2762"^^xsd:string) AnnotationAssertion( "POH"^^xsd:string) AnnotationAssertion( "cutaneous ossification"^^xsd:string) AnnotationAssertion( "ectopic ossification familial type"^^xsd:string) AnnotationAssertion( "familial ectopic ossification"^^xsd:string) AnnotationAssertion( "osteodermia"^^xsd:string) AnnotationAssertion( "osteoma cutis"^^xsd:string) AnnotationAssertion( "osteosis cutis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111535"^^xsd:string) AnnotationAssertion(rdfs:label "progressive osseous heteroplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Buschke-Ollendorff syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15489854"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19438932"^^xsd:string) "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-08T11:57:28Z"^^xsd:string) AnnotationAssertion( "MIM:166700"^^xsd:string) AnnotationAssertion( "GARD:1044"^^xsd:string) AnnotationAssertion( "MESH:C537415"^^xsd:string) AnnotationAssertion( "ORDO:1306"^^xsd:string) AnnotationAssertion( "BOS"^^xsd:string) AnnotationAssertion( "Dermatofibrosis lenticularis disseminata with osteopoikilosis"^^xsd:string) AnnotationAssertion( "Dermatoosteopoikilosis"^^xsd:string) AnnotationAssertion( "LEMD3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "dermatofibrosis lenticularis disseminata"^^xsd:string) AnnotationAssertion( "disseminated dermatofibrosis with osteopoikilosis"^^xsd:string) AnnotationAssertion( "osteopathia condensans disseminata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED"^^xsd:string) AnnotationAssertion( "OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS"^^xsd:string) AnnotationAssertion( "OSTEOPOIKILOSIS, ISOLATED"^^xsd:string) AnnotationAssertion( "osteopoikilosis with melorheostosis"^^xsd:string) AnnotationAssertion( "DOID:0111536"^^xsd:string) AnnotationAssertion(rdfs:label "Buschke-Ollendorff syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paroxysmal extreme pain disorder) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17145499"^^xsd:string) "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:167400"^^xsd:string) AnnotationAssertion( "GARD:12854"^^xsd:string) AnnotationAssertion( "MESH:C563475"^^xsd:string) AnnotationAssertion( "NCI:C125385"^^xsd:string) AnnotationAssertion( "ORDO:46348"^^xsd:string) AnnotationAssertion( "PEPD"^^xsd:string) AnnotationAssertion( "PEXPD"^^xsd:string) AnnotationAssertion( "familial rectal pain"^^xsd:string) AnnotationAssertion( "submandibular, ocular, and rectal pain with flushing"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111537"^^xsd:string) AnnotationAssertion(rdfs:label "paroxysmal extreme pain disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paramyotonia congenita of Von Eulenburg) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/paramyotonia-congenita"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1316765"^^xsd:string) "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7325"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.19"^^xsd:string) AnnotationAssertion( "MIM:168300"^^xsd:string) AnnotationAssertion( "ORDO:684"^^xsd:string) AnnotationAssertion( "Eulenburg disease"^^xsd:string) AnnotationAssertion( "PARAMYOTONIA CONGENITA"^^xsd:string) AnnotationAssertion( "PMC"^^xsd:string) AnnotationAssertion( "Von Eulenburg paramyotonia congenita"^^xsd:string) AnnotationAssertion( "myotonia congenita intermittens"^^xsd:string) AnnotationAssertion( "paralysis periodica paramyotonica"^^xsd:string) AnnotationAssertion( "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS"^^xsd:string) AnnotationAssertion( "paramyotonia congenita without cold paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111538"^^xsd:string) AnnotationAssertion(rdfs:label "paramyotonia congenita of Von Eulenburg"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parastremmatic dwarfism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20503319"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4992387"^^xsd:string) "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:168400"^^xsd:string) AnnotationAssertion( "GARD:4222"^^xsd:string) AnnotationAssertion( "MESH:C537172"^^xsd:string) AnnotationAssertion( "ORDO:2646"^^xsd:string) AnnotationAssertion( "parastremmatic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111539"^^xsd:string) AnnotationAssertion(rdfs:label "parastremmatic dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prolidase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/prolidase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18340504"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1972707"^^xsd:string) "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T17:42:02Z"^^xsd:string) AnnotationAssertion( "MIM:170100"^^xsd:string) AnnotationAssertion( "GARD:7473"^^xsd:string) AnnotationAssertion( "MESH:D056732"^^xsd:string) AnnotationAssertion( "NCI:C85029"^^xsd:string) AnnotationAssertion( "ORDO:742"^^xsd:string) AnnotationAssertion( "Hyperimidodipeptiduria"^^xsd:string) AnnotationAssertion( "Imidodipeptidase Deficiencies"^^xsd:string) AnnotationAssertion( "Imidodipeptidase Deficiency"^^xsd:string) AnnotationAssertion( "PEPD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hyperimidodipeptidurias"^^xsd:string) AnnotationAssertion( "peptidase deficiency"^^xsd:string) AnnotationAssertion( "prolidase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111540"^^xsd:string) AnnotationAssertion(rdfs:label "prolidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pigmented paravenous chorioretinal atrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15623792"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3778279"^^xsd:string) "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:172870"^^xsd:string) AnnotationAssertion( "MESH:C566801"^^xsd:string) AnnotationAssertion( "ORDO:251295"^^xsd:string) AnnotationAssertion( "PPCRA"^^xsd:string) AnnotationAssertion( "PPRCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111541"^^xsd:string) AnnotationAssertion(rdfs:label "pigmented paravenous chorioretinal atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial expansile osteolysis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10615125"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12362049"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17447113"^^xsd:string) "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:174810"^^xsd:string) AnnotationAssertion( "GARD:9168"^^xsd:string) AnnotationAssertion( "MESH:C536335"^^xsd:string) AnnotationAssertion( "ORDO:85195"^^xsd:string) AnnotationAssertion( "EOF"^^xsd:string) AnnotationAssertion( "FEO"^^xsd:string) AnnotationAssertion( "HEPOD"^^xsd:string) AnnotationAssertion( "McCabe disease"^^xsd:string) AnnotationAssertion( "hereditary expansile polyostotic osteolytic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111542"^^xsd:string) AnnotationAssertion(rdfs:label "familial expansile osteolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15031030"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20101697"^^xsd:string) "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175050"^^xsd:string) AnnotationAssertion( "MESH:C563412"^^xsd:string) AnnotationAssertion( "JP-HHT"^^xsd:string) AnnotationAssertion( "JP/HHT SYNDROME"^^xsd:string) AnnotationAssertion( "JPHHT Syndrome"^^xsd:string) AnnotationAssertion( "JPHT"^^xsd:string) AnnotationAssertion( "JPS/HHT"^^xsd:string) AnnotationAssertion( "JPSHHT"^^xsd:string) AnnotationAssertion( "Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia"^^xsd:string) AnnotationAssertion( "generalized juvenile polyposis with pulmonary arteriovenous malformation"^^xsd:string) AnnotationAssertion( "hereditary hemorrhagic telangiectasia with juvenile polyposis coli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111543"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Guttmacher syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11968094"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8484413"^^xsd:string) "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176305"^^xsd:string) AnnotationAssertion( "GARD:4470"^^xsd:string) AnnotationAssertion( "MESH:C538278"^^xsd:string) AnnotationAssertion( "ORDO:2957"^^xsd:string) AnnotationAssertion( "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias"^^xsd:string) AnnotationAssertion( "preaxial deficiency, postaxial polydactyly and hypospadias"^^xsd:string) AnnotationAssertion( "preaxial deficiency-postaxial polydactyly-hypospadias syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111544"^^xsd:string) AnnotationAssertion(rdfs:label "Guttmacher syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial male-limited precocious puberty) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7692306"^^xsd:string) "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176410"^^xsd:string) AnnotationAssertion( "GARD:4475"^^xsd:string) AnnotationAssertion( "MESH:C536961"^^xsd:string) AnnotationAssertion( "MESH:C538542"^^xsd:string) AnnotationAssertion( "NCI:C113219"^^xsd:string) AnnotationAssertion( "ORDO:3000"^^xsd:string) AnnotationAssertion( "FMPP"^^xsd:string) AnnotationAssertion( "Familial Testotoxicosis"^^xsd:string) AnnotationAssertion( "Gonadotrophin-Independent Precocious Puberty"^^xsd:string) AnnotationAssertion( "Idiopathic sexual precocity"^^xsd:string) AnnotationAssertion( "Precocious Pseudopuberty"^^xsd:string) AnnotationAssertion( "Precocious puberty, male limited"^^xsd:string) AnnotationAssertion( "familial gonadotrophin-independent sexual precocity"^^xsd:string) AnnotationAssertion( "familial gonadotropin-independent male-limited sexual precocity"^^xsd:string) AnnotationAssertion( "familial gonadotropin-independent sexual precocity"^^xsd:string) AnnotationAssertion( "familial precocious puberty"^^xsd:string) AnnotationAssertion( "pubertas praecox"^^xsd:string) AnnotationAssertion( "sexual precocity"^^xsd:string) AnnotationAssertion( "testotoxicosis"^^xsd:string) AnnotationAssertion( "LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111545"^^xsd:string) AnnotationAssertion(rdfs:label "familial male-limited precocious puberty"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Currarino syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6789651"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9843207"^^xsd:string) "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176450"^^xsd:string) AnnotationAssertion( "GARD:1626"^^xsd:string) AnnotationAssertion( "MESH:C536221"^^xsd:string) AnnotationAssertion( "ORDO:1552"^^xsd:string) AnnotationAssertion( "Currarino triad"^^xsd:string) AnnotationAssertion( "SCRA1"^^xsd:string) AnnotationAssertion( "hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation"^^xsd:string) AnnotationAssertion( "sacral agenesis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111546"^^xsd:string) AnnotationAssertion(rdfs:label "Currarino syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal arterial tortuosity) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12745002"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25228067"^^xsd:string) "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180000"^^xsd:string) AnnotationAssertion( "ORDO:75326"^^xsd:string) AnnotationAssertion( "RATOR"^^xsd:string) AnnotationAssertion( "RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY"^^xsd:string) AnnotationAssertion( "retinal arteriolar tortuosity"^^xsd:string) AnnotationAssertion( "tortuosity of retinal arteries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111547"^^xsd:string) AnnotationAssertion(rdfs:label "retinal arterial tortuosity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ring dermoid of cornea) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15591271"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7387508"^^xsd:string) "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180550"^^xsd:string) AnnotationAssertion( "GARD:9696"^^xsd:string) AnnotationAssertion( "MESH:C535684"^^xsd:string) AnnotationAssertion( "ORDO:91481"^^xsd:string) AnnotationAssertion( "Bilateral, annular limbal dermoids with corneal and conjunctival extension"^^xsd:string) AnnotationAssertion( "RDC"^^xsd:string) AnnotationAssertion( "Ring dermoid syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111548"^^xsd:string) AnnotationAssertion(rdfs:label "ring dermoid of cornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aplasia of lacrimal and salivary glands) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15654336"^^xsd:string) "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180920"^^xsd:string) AnnotationAssertion( "ICD9CM:750.21"^^xsd:string) AnnotationAssertion( "MESH:C562407"^^xsd:string) AnnotationAssertion( "ORDO:86815"^^xsd:string) AnnotationAssertion( "ALSG"^^xsd:string) AnnotationAssertion( "congenital absence of lacrimal puncta and salivary glands"^^xsd:string) AnnotationAssertion( "absence of salivary glands"^^xsd:string) AnnotationAssertion( "parotid aplasia or hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111549"^^xsd:string) AnnotationAssertion(rdfs:label "aplasia of lacrimal and salivary glands"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scalp-ear-nipple syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23541344"^^xsd:string) "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181270"^^xsd:string) AnnotationAssertion( "GARD:159"^^xsd:string) AnnotationAssertion( "MESH:C536623"^^xsd:string) AnnotationAssertion( "ORDO:2036"^^xsd:string) AnnotationAssertion( "Finlay-Marks syndrome"^^xsd:string) AnnotationAssertion( "SEN syndrome"^^xsd:string) AnnotationAssertion( "SENS"^^xsd:string) AnnotationAssertion( "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111550"^^xsd:string) AnnotationAssertion(rdfs:label "scalp-ear-nipple syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurogenic scapuloperoneal syndrome Kaeser type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17439987"^^xsd:string) "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181400"^^xsd:string) AnnotationAssertion( "GARD:10312"^^xsd:string) AnnotationAssertion( "MESH:C566695"^^xsd:string) AnnotationAssertion( "ORDO:85146"^^xsd:string) AnnotationAssertion( "Kaeser syndrome"^^xsd:string) AnnotationAssertion( "SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER"^^xsd:string) AnnotationAssertion( "SCPNK"^^xsd:string) AnnotationAssertion( "Stark-Kaeser syndrome"^^xsd:string) AnnotationAssertion( "scapuloperoneal syndrome type Kaeser"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111551"^^xsd:string) AnnotationAssertion(rdfs:label "neurogenic scapuloperoneal syndrome Kaeser type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scapuloperoneal spinal muscular atrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1520078"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20037587"^^xsd:string) "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271220"^^xsd:string) AnnotationAssertion( "EFO:1001992"^^xsd:string) AnnotationAssertion( "GARD:10314"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.1"^^xsd:string) AnnotationAssertion( "MIM:181405"^^xsd:string) AnnotationAssertion( "ORDO:431255"^^xsd:string) AnnotationAssertion( "SPSMA"^^xsd:string) AnnotationAssertion( "neurogenic scapuloperoneal amyotrophy, New England type"^^xsd:string) AnnotationAssertion( "scapuloperoneal form of spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "scapuloperoneal neuronopathy"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, scapuloperoneal form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111552"^^xsd:string) AnnotationAssertion(rdfs:label "scapuloperoneal spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia Maroteaux type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20503319"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2229114"^^xsd:string) "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "GARD:994"^^xsd:string) AnnotationAssertion( "MIM:184095"^^xsd:string) AnnotationAssertion( "ORDO:263482"^^xsd:string) AnnotationAssertion( "SED, Maroteaux type"^^xsd:string) AnnotationAssertion( "pseudo-Morquio syndrome, type 2"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia of Maroteaux"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111553"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia Maroteaux type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia Kozlowski type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19232556"^^xsd:string) "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184252"^^xsd:string) AnnotationAssertion( "GARD:3047"^^xsd:string) AnnotationAssertion( "MESH:C535797"^^xsd:string) AnnotationAssertion( "ORDO:93314"^^xsd:string) AnnotationAssertion( "Jequier-Kozlowski syndrome"^^xsd:string) AnnotationAssertion( "SMD, Kozlowski Type"^^xsd:string) AnnotationAssertion( "SMDK"^^xsd:string) AnnotationAssertion( "dysmorphism arthrogryposis skeletal maturation advanced"^^xsd:string) AnnotationAssertion( "skeletal dysplasia Jequier-Kozlowski type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111554"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia Kozlowski type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alkuraya-Kucinskas syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25558065"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29290337"^^xsd:string) "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617822"^^xsd:string) AnnotationAssertion( "ALKKUCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111555"^^xsd:string) AnnotationAssertion(rdfs:label "Alkuraya-Kucinskas syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (steatocystoma multiplex) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18098741"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9008238"^^xsd:string) "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5003"^^xsd:string) AnnotationAssertion( "MESH:D062685"^^xsd:string) AnnotationAssertion( "MIM:184500"^^xsd:string) AnnotationAssertion( "ORDO:841"^^xsd:string) AnnotationAssertion( "Multiple Sebaceous Cyst"^^xsd:string) AnnotationAssertion( "Multiple Sebaceous Cysts"^^xsd:string) AnnotationAssertion( "Multiplex Steatocystomas"^^xsd:string) AnnotationAssertion( "Steatocystoma Multiplices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111556"^^xsd:string) AnnotationAssertion(rdfs:label "steatocystoma multiplex"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2A2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21715711"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617087"^^xsd:string) AnnotationAssertion( "ORDO:90118"^^xsd:string) AnnotationAssertion( "AR-CMT2, Ouvrier type"^^xsd:string) AnnotationAssertion( "CMT2A2B"^^xsd:string) AnnotationAssertion( "SEOAN due to MFN2 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, type 2A2B"^^xsd:string) AnnotationAssertion( "severe early-onset axonal neuropathy due to MFN2 deficiency"^^xsd:string) AnnotationAssertion( "axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111557"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2A2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2DD) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29499166"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618036"^^xsd:string) AnnotationAssertion( "ORDO:521414"^^xsd:string) AnnotationAssertion( "ATP1A1-related CMT2"^^xsd:string) AnnotationAssertion( "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD"^^xsd:string) AnnotationAssertion( "CMT2DD"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Type 2DD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111558"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2DD"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 2EE) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26437932"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30298599"^^xsd:string) "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618400"^^xsd:string) AnnotationAssertion( "CMT2EE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, type 2EE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 2EE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111559"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 2EE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease type 1G) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26828946"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27009151"^^xsd:string) "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T17:45:30Z"^^xsd:string) AnnotationAssertion( "EFO:0010266"^^xsd:string) AnnotationAssertion( "MIM:618279"^^xsd:string) AnnotationAssertion( "ORDO:476394"^^xsd:string) AnnotationAssertion( "CMT1G"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease Type IG"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1G"^^xsd:string) AnnotationAssertion( "PMP2-related CMT1"^^xsd:string) AnnotationAssertion( "PMP2-related Charcot-Marie-Tooth disease type 1"^^xsd:string) AnnotationAssertion( "PMP2-related Charcot-Marie-Tooth neuropathy type 1"^^xsd:string) AnnotationAssertion( "PMP2-related hereditary motor and sensory neuropathy type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111560"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease type 1G"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stiff skin syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20375004"^^xsd:string) "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184900"^^xsd:string) AnnotationAssertion( "GARD:5025"^^xsd:string) AnnotationAssertion( "MESH:C566112"^^xsd:string) AnnotationAssertion( "NCI:C118636"^^xsd:string) AnnotationAssertion( "ORDO:2833"^^xsd:string) AnnotationAssertion( "SSKS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111561"^^xsd:string) AnnotationAssertion(rdfs:label "stiff skin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (overhydrated hereditary stomatocytosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18931342"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21849667"^^xsd:string) "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:185000"^^xsd:string) AnnotationAssertion( "RHAG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4183"^^xsd:string) AnnotationAssertion( "MESH:C566111"^^xsd:string) AnnotationAssertion( "ORDO:3203"^^xsd:string) AnnotationAssertion( "OHS"^^xsd:string) AnnotationAssertion( "OHST"^^xsd:string) AnnotationAssertion( "Stomatocytosis I"^^xsd:string) AnnotationAssertion( "potassium-sodium disorder of erythrocyte"^^xsd:string) AnnotationAssertion( "stomatocytosisIOHST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111562"^^xsd:string) AnnotationAssertion(rdfs:label "overhydrated hereditary stomatocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sturge-Weber syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15165630"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23656586"^^xsd:string) "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:185300"^^xsd:string) AnnotationAssertion( "MIM:608355"^^xsd:string) AnnotationAssertion( "GARD:7706"^^xsd:string) AnnotationAssertion( "MESH:D013341"^^xsd:string) AnnotationAssertion( "NCI:C3391"^^xsd:string) AnnotationAssertion( "ORDO:3205"^^xsd:string) AnnotationAssertion( "Neuroretinoangiomatosis"^^xsd:string) AnnotationAssertion( "PKWS"^^xsd:string) AnnotationAssertion( "Parkes Weber Syndrome"^^xsd:string) AnnotationAssertion( "SWS"^^xsd:string) AnnotationAssertion( "Sturge Disease"^^xsd:string) AnnotationAssertion( "Sturge Kalischer Weber Syndrome"^^xsd:string) AnnotationAssertion( "Sturge Weber Dimitri syndrome"^^xsd:string) AnnotationAssertion( "Sturge Weber Krabbe syndrome"^^xsd:string) AnnotationAssertion( "Sturge syndrome"^^xsd:string) AnnotationAssertion( "Sturge's Syndrome"^^xsd:string) AnnotationAssertion( "Sturge-Weber phakomatosis"^^xsd:string) AnnotationAssertion( "Sturge-Weber-Krabbe angiomatosis"^^xsd:string) AnnotationAssertion( "angiomatosis oculoorbital-thalamic syndrome"^^xsd:string) AnnotationAssertion( "encephalofacial angiomatosis"^^xsd:string) AnnotationAssertion( "encephalofacial hemangiomatosis syndrome"^^xsd:string) AnnotationAssertion( "encephalotrigeminal angiomatosis"^^xsd:string) AnnotationAssertion( "fourth phacomatosis"^^xsd:string) AnnotationAssertion( "leptomeningeal angiomatosis"^^xsd:string) AnnotationAssertion( "meningeal capillary angiomatosis"^^xsd:string) AnnotationAssertion( "meningo oculo facial angiomatosis"^^xsd:string) AnnotationAssertion( "meningofacial angiomatosis-cerebral calcification syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111563"^^xsd:string) AnnotationAssertion(rdfs:label "Sturge-Weber syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoplastic or aplastic tibia with polydactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19847792"^^xsd:string) "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535564"^^xsd:string) AnnotationAssertion( "MESH:C566046"^^xsd:string) AnnotationAssertion( "GARD:8309"^^xsd:string) AnnotationAssertion( "MIM:188740"^^xsd:string) AnnotationAssertion( "ORDO:3332"^^xsd:string) AnnotationAssertion( "ORDO:988"^^xsd:string) AnnotationAssertion( "THYP"^^xsd:string) AnnotationAssertion( "WMS"^^xsd:string) AnnotationAssertion( "Werner mesomelic syndrome"^^xsd:string) AnnotationAssertion( "absence of tibia with polydactyly"^^xsd:string) AnnotationAssertion( "absent tibia-polydactyly syndrome"^^xsd:string) AnnotationAssertion( "hypoplasia of tibia with polydactyly"^^xsd:string) AnnotationAssertion( "hypoplasia or aplasia of tibia with polydactyly"^^xsd:string) AnnotationAssertion( "hypoplastic tibiae-postaxial polydactyly syndrome"^^xsd:string) AnnotationAssertion( "polydactyly with absent tibia"^^xsd:string) AnnotationAssertion( "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia"^^xsd:string) AnnotationAssertion( "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"^^xsd:string) AnnotationAssertion( "tibial hypoplasia or aplasia with polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111564"^^xsd:string) AnnotationAssertion(rdfs:label "hypoplastic or aplastic tibia with polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichodontoosseous syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22671030"^^xsd:string) "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:190320"^^xsd:string) AnnotationAssertion( "GARD:7799"^^xsd:string) AnnotationAssertion( "MESH:C536549"^^xsd:string) AnnotationAssertion( "ORDO:3352"^^xsd:string) AnnotationAssertion( "TDO"^^xsd:string) AnnotationAssertion( "TDO syndrome"^^xsd:string) AnnotationAssertion( "tricho-dento-osseous syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111565"^^xsd:string) AnnotationAssertion(rdfs:label "trichodontoosseous syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial isolated trichomegaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24989505"^^xsd:string) "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001840"^^xsd:string) AnnotationAssertion( "MIM:190330"^^xsd:string) AnnotationAssertion( "ORDO:411788"^^xsd:string) AnnotationAssertion( "TCMGLY"^^xsd:string) AnnotationAssertion( "long eyelashes"^^xsd:string) AnnotationAssertion( "trichomegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111566"^^xsd:string) AnnotationAssertion(rdfs:label "familial isolated trichomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal vasculopathy with cerebral leukodystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17660820"^^xsd:string) "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:192315"^^xsd:string) AnnotationAssertion( "GARD:1217"^^xsd:string) AnnotationAssertion( "MESH:C566007"^^xsd:string) AnnotationAssertion( "ORDO:247691"^^xsd:string) AnnotationAssertion( "CRV"^^xsd:string) AnnotationAssertion( "RVCL"^^xsd:string) AnnotationAssertion( "RVCL-S"^^xsd:string) AnnotationAssertion( "RVCLS"^^xsd:string) AnnotationAssertion( "hereditary cerebroretinal vasculopathy"^^xsd:string) AnnotationAssertion( "retinal vasculopathy and cerebral leukoencephalopathy"^^xsd:string) AnnotationAssertion( "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"^^xsd:string) AnnotationAssertion( "vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111567"^^xsd:string) AnnotationAssertion(rdfs:label "retinal vasculopathy with cerebral leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital vertical talus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15368082"^^xsd:string) "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:192950"^^xsd:string) AnnotationAssertion( "GARD:5488"^^xsd:string) AnnotationAssertion( "MESH:C536345"^^xsd:string) AnnotationAssertion( "MESH:C564179"^^xsd:string) AnnotationAssertion( "ORDO:178382"^^xsd:string) AnnotationAssertion( "CVT"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Foot Deformity of"^^xsd:string) AnnotationAssertion( "congenital convex foot"^^xsd:string) AnnotationAssertion( "congenital rocker-bottom foot"^^xsd:string) AnnotationAssertion( "pes valgus, congenital convex"^^xsd:string) AnnotationAssertion( "rocker-bottom foot"^^xsd:string) AnnotationAssertion( "rocker-bottom foot deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111568"^^xsd:string) AnnotationAssertion(rdfs:label "congenital vertical talus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant vitreoretinochoroidopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15452077"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7065944"^^xsd:string) "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193220"^^xsd:string) AnnotationAssertion( "MRCS"^^xsd:string) AnnotationAssertion( "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma"^^xsd:string) AnnotationAssertion( "GARD:5507"^^xsd:string) AnnotationAssertion( "MESH:C536352"^^xsd:string) AnnotationAssertion( "ORDO:3086"^^xsd:string) AnnotationAssertion( "ADVIRC"^^xsd:string) AnnotationAssertion( "VRCP"^^xsd:string) AnnotationAssertion( "VRCP autosomal dominant"^^xsd:string) AnnotationAssertion( "Vitreoretinochoroidopathy"^^xsd:string) AnnotationAssertion( "Vitreoretinochoroidopathy dominant"^^xsd:string) AnnotationAssertion( "Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos"^^xsd:string) AnnotationAssertion( "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract"^^xsd:string) AnnotationAssertion( "MRCS2"^^xsd:string) AnnotationAssertion( "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111569"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant vitreoretinochoroidopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (snowflake vitreoretinal degeneration) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18179896"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4812083"^^xsd:string) "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193230"^^xsd:string) AnnotationAssertion( "GARD:9706"^^xsd:string) AnnotationAssertion( "MESH:C536677"^^xsd:string) AnnotationAssertion( "ORDO:91496"^^xsd:string) AnnotationAssertion( "SVD"^^xsd:string) AnnotationAssertion( "snowflake degeneration in hereditary vitreoretinal degeneration"^^xsd:string) AnnotationAssertion( "vitreoretinal degeneration, Snowflake type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111570"^^xsd:string) AnnotationAssertion(rdfs:label "snowflake vitreoretinal degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weyers acrofacial dysostosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10700184"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16404586"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9399901"^^xsd:string) "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193530"^^xsd:string) AnnotationAssertion( "GARD:497"^^xsd:string) AnnotationAssertion( "MESH:C536695"^^xsd:string) AnnotationAssertion( "ORDO:952"^^xsd:string) AnnotationAssertion( "Curry Hall syndrome"^^xsd:string) AnnotationAssertion( "WAD"^^xsd:string) AnnotationAssertion( "Weyers acrodental dysostosis"^^xsd:string) AnnotationAssertion( "acrodental dysostosis of Weyers"^^xsd:string) AnnotationAssertion( "acrofacial dysostosis of Weyers"^^xsd:string) AnnotationAssertion( "acrofacial dysostosis, Weyers type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111571"^^xsd:string) AnnotationAssertion(rdfs:label "Weyers acrofacial dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial woolly hair syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19365138"^^xsd:string) "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5597"^^xsd:string) AnnotationAssertion( "MESH:C536745"^^xsd:string) AnnotationAssertion( "ORDO:170"^^xsd:string) AnnotationAssertion( "congenital woolly hair"^^xsd:string) AnnotationAssertion( "familial wooly hair syndrome"^^xsd:string) AnnotationAssertion( "frizzy hair syndrome"^^xsd:string) AnnotationAssertion( "hereditary woolly hair syndrome"^^xsd:string) AnnotationAssertion( "hereditary wooly hair syndrome"^^xsd:string) AnnotationAssertion( "woolly hair"^^xsd:string) AnnotationAssertion( "woolly hair syndrome"^^xsd:string) AnnotationAssertion( "wooly hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111572"^^xsd:string) AnnotationAssertion(rdfs:label "familial woolly hair syndrome"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant woolly hair) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20346438"^^xsd:string) "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194300"^^xsd:string) AnnotationAssertion( "ADWH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111573"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant woolly hair"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive woolly hair 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26160856"^^xsd:string) "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616760"^^xsd:string) AnnotationAssertion( "MONDO:0014765"^^xsd:string) AnnotationAssertion( "ARWH3"^^xsd:string) AnnotationAssertion( "WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111574"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive woolly hair 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dehydrated hereditary stomatocytosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22529292"^^xsd:string) "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-16T17:54:10Z"^^xsd:string) AnnotationAssertion( "GARD:5623"^^xsd:string) AnnotationAssertion( "MESH:C536764"^^xsd:string) AnnotationAssertion( "ORDO:3202"^^xsd:string) AnnotationAssertion( "DHS"^^xsd:string) AnnotationAssertion( "desiccytosis gardos"^^xsd:string) AnnotationAssertion( "hereditary desiccytosis"^^xsd:string) AnnotationAssertion( "hereditary xerocytosis"^^xsd:string) AnnotationAssertion( "xerocytosis gardos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111575"^^xsd:string) AnnotationAssertion(rdfs:label "dehydrated hereditary stomatocytosis"^^xsd:string) SubClassOf( ) # Class: (dehydrated hereditary stomatocytosis 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22529292"^^xsd:string) "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194380"^^xsd:string) AnnotationAssertion( "MESH:C566369"^^xsd:string) AnnotationAssertion( "DHS1"^^xsd:string) AnnotationAssertion( "Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema"^^xsd:string) AnnotationAssertion( "PSHK1"^^xsd:string) AnnotationAssertion( "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema"^^xsd:string) AnnotationAssertion( "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis"^^xsd:string) AnnotationAssertion( "familial pseudohyperkalemia 1, due to red cell leak"^^xsd:string) AnnotationAssertion( "pseudohyperkalemia Edinburgh"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111576"^^xsd:string) AnnotationAssertion(rdfs:label "dehydrated hereditary stomatocytosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dehydrated hereditary stomatocytosis 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26148990"^^xsd:string) "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616689"^^xsd:string) AnnotationAssertion( "DHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111577"^^xsd:string) AnnotationAssertion(rdfs:label "dehydrated hereditary stomatocytosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gillespie syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27108797"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27108798"^^xsd:string) "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:206700"^^xsd:string) AnnotationAssertion( "OMIA:002097"^^xsd:string) AnnotationAssertion( "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA"^^xsd:string) AnnotationAssertion( "GARD:13"^^xsd:string) AnnotationAssertion( "MESH:C536370"^^xsd:string) AnnotationAssertion( "ORDO:1065"^^xsd:string) AnnotationAssertion( "GLSP"^^xsd:string) AnnotationAssertion( "aniridia, cerebellar ataxia, and mental deficiency"^^xsd:string) AnnotationAssertion( "aniridia, cerebellar ataxia, and mental retardation"^^xsd:string) AnnotationAssertion( "aniridia, cerebellar ataxia, mental deficiency"^^xsd:string) AnnotationAssertion( "aniridia-cerebellar ataxia-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "partial aniridia-cerebellar ataxia-mental retardation"^^xsd:string) AnnotationAssertion( "partial aniridia-cerebellar ataxia-oligophrenia"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, ITPR1-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111578"^^xsd:string) AnnotationAssertion(rdfs:label "Gillespie syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (asthma, nasal polyps, and aspirin intolerance) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15496426"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15806396"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9393345"^^xsd:string) "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208550"^^xsd:string) AnnotationAssertion( "MESH:C565935"^^xsd:string) AnnotationAssertion( "ASA Triad"^^xsd:string) AnnotationAssertion( "ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "ASTHMA AND NASAL POLYPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111579"^^xsd:string) AnnotationAssertion(rdfs:label "asthma, nasal polyps, and aspirin intolerance"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Behr syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6747661"^^xsd:string) "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-01T11:58:09Z"^^xsd:string) AnnotationAssertion( "MIM:210000"^^xsd:string) AnnotationAssertion( "GARD:849"^^xsd:string) AnnotationAssertion( "MESH:C537669"^^xsd:string) AnnotationAssertion( "NCI:C177251"^^xsd:string) AnnotationAssertion( "Abortive cerebellar ataxia (BEHRS)"^^xsd:string) AnnotationAssertion( "BEHRS"^^xsd:string) AnnotationAssertion( "infantile hereditary optic atrophy, Behr complicated form of"^^xsd:string) AnnotationAssertion( "infantile hereditary optic atrophy, with neurologic abnormalities"^^xsd:string) AnnotationAssertion( "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111580"^^xsd:string) AnnotationAssertion(rdfs:label "Behr syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (C syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17847009"^^xsd:string) "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007360"^^xsd:string) AnnotationAssertion( "MIM:211750"^^xsd:string) AnnotationAssertion( "GARD:5978"^^xsd:string) AnnotationAssertion( "MESH:C537418"^^xsd:string) AnnotationAssertion( "ORDO:1308"^^xsd:string) AnnotationAssertion( "OTCS"^^xsd:string) AnnotationAssertion( "Opitz C trigonocephaly"^^xsd:string) AnnotationAssertion( "Opitz trigonocephaly C syndrome"^^xsd:string) AnnotationAssertion( "Opitz trigonocephaly syndrome"^^xsd:string) AnnotationAssertion( "trigonocephaly C syndrome"^^xsd:string) AnnotationAssertion( "trigonocephaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111581"^^xsd:string) AnnotationAssertion(rdfs:label "C syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary arterial and articular multiple calcification syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21288095"^^xsd:string) "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211800"^^xsd:string) AnnotationAssertion( "GARD:10762"^^xsd:string) AnnotationAssertion( "MESH:C565891"^^xsd:string) AnnotationAssertion( "NCI:C201591"^^xsd:string) AnnotationAssertion( "ORDO:289601"^^xsd:string) AnnotationAssertion( "ACDC"^^xsd:string) AnnotationAssertion( "CALJA"^^xsd:string) AnnotationAssertion( "arterial calcification and distal joint calcification"^^xsd:string) AnnotationAssertion( "arterial calcification due to CD73 deficiency"^^xsd:string) AnnotationAssertion( "arterial calcification due to deficiency of CD73"^^xsd:string) AnnotationAssertion( "calcification of joints and arteries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111582"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary arterial and articular multiple calcification syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (carboxypeptidase N deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12560874"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7437116"^^xsd:string) "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212070"^^xsd:string) AnnotationAssertion( "MESH:C562876"^^xsd:string) AnnotationAssertion( "NCI:C132196"^^xsd:string) AnnotationAssertion( "anaphylotoxin inactivator deficiency"^^xsd:string) AnnotationAssertion( "deficiency of carboxypeptidase B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111583"^^xsd:string) AnnotationAssertion(rdfs:label "carboxypeptidase N deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12927431"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19283854"^^xsd:string) "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C535580"^^xsd:string) AnnotationAssertion( "MESH:C535703"^^xsd:string) AnnotationAssertion( "GARD:3373"^^xsd:string) AnnotationAssertion( "MIM:212112"^^xsd:string) AnnotationAssertion( "NCI:C174217"^^xsd:string) AnnotationAssertion( "ORDO:2229"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE"^^xsd:string) AnnotationAssertion( "Malouf syndrome"^^xsd:string) AnnotationAssertion( "Najjar syndrome"^^xsd:string) AnnotationAssertion( "cardiogenital syndrome"^^xsd:string) AnnotationAssertion( "cardiomyopathy eith primary testicular failure"^^xsd:string) AnnotationAssertion( "congestive cardiomyopathy with hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "genital anomaly with cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111584"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (carnitine-acylcarnitine translocase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15363639"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9399886"^^xsd:string) "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212138"^^xsd:string) AnnotationAssertion( "GARD:1123"^^xsd:string) AnnotationAssertion( "MESH:C562812"^^xsd:string) AnnotationAssertion( "NCI:C133086"^^xsd:string) AnnotationAssertion( "ORDO:159"^^xsd:string) AnnotationAssertion( "CACT Deficiency"^^xsd:string) AnnotationAssertion( "CACTD"^^xsd:string) AnnotationAssertion( "Carnitine-Acylcarnitine Carrier Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111585"^^xsd:string) AnnotationAssertion(rdfs:label "carnitine-acylcarnitine translocase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Martsolf syndrome 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/rab18-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16532399"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/677168"^^xsd:string) "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212720"^^xsd:string) AnnotationAssertion( "MARTS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111586"^^xsd:string) AnnotationAssertion(rdfs:label "Martsolf syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Gordon Holmes syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23656588"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25841028"^^xsd:string) "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212840"^^xsd:string) AnnotationAssertion( "MESH:C565870"^^xsd:string) AnnotationAssertion( "ORDO:1173"^^xsd:string) AnnotationAssertion( "CAHH"^^xsd:string) AnnotationAssertion( "GDHS"^^xsd:string) AnnotationAssertion( "LHRH deficiency and ataxia"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "cerebellar ataxia-hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "deficiency of luteinizing hormone-releasing hormone with ataxia"^^xsd:string) AnnotationAssertion( "luteinizing hormone-releasing hormone deficiency with ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111587"^^xsd:string) AnnotationAssertion(rdfs:label "Gordon Holmes syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Greenberg dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/greenberg-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18382993"^^xsd:string) "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215140"^^xsd:string) AnnotationAssertion( "GARD:8754"^^xsd:string) AnnotationAssertion( "MESH:C535858"^^xsd:string) AnnotationAssertion( "ORDO:1426"^^xsd:string) AnnotationAssertion( "GRBGD"^^xsd:string) AnnotationAssertion( "Greenberg Skeletal Dysplasia"^^xsd:string) AnnotationAssertion( "HEM Dysplasia"^^xsd:string) AnnotationAssertion( "HEM skeletal dysplasia"^^xsd:string) AnnotationAssertion( "autosomal recessive lethal chondrodystrophy with congenital hydrops"^^xsd:string) AnnotationAssertion( "hydropic chondrodystrophy and prenatally lethal type"^^xsd:string) AnnotationAssertion( "hydrops-ectopic calcification-moth-eaten skeletal dysplasia"^^xsd:string) AnnotationAssertion( "hydrops-ectopic calcification-motheaten syndrome"^^xsd:string) AnnotationAssertion( "moth-eaten skeletal dysplasia"^^xsd:string) AnnotationAssertion( "skeletal dysplasia, Greenberg type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111588"^^xsd:string) AnnotationAssertion(rdfs:label "Greenberg dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (COACH syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19574260"^^xsd:string) "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)"^^xsd:string) AnnotationAssertion( "GARD:1410"^^xsd:string) AnnotationAssertion( "MESH:C536430"^^xsd:string) AnnotationAssertion( "ORDO:1454"^^xsd:string) AnnotationAssertion( "Gentile syndrome"^^xsd:string) AnnotationAssertion( "JS-H"^^xsd:string) AnnotationAssertion( "Joubert syndrome with congenital hepatic fibrosis"^^xsd:string) AnnotationAssertion( "Joubert syndrome with hepatic defect"^^xsd:string) AnnotationAssertion( "cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis"^^xsd:string) AnnotationAssertion( "cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"^^xsd:string) AnnotationAssertion( "Joubert syndrome with ocular defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111589"^^xsd:string) AnnotationAssertion(rdfs:label "COACH syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cohen syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/cohen-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12730828"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24334764"^^xsd:string) "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:216550"^^xsd:string) AnnotationAssertion( "OMIA:001428"^^xsd:string) AnnotationAssertion( "GARD:6126"^^xsd:string) AnnotationAssertion( "MESH:C536438"^^xsd:string) AnnotationAssertion( "ORDO:193"^^xsd:string) AnnotationAssertion( "CHS1"^^xsd:string) AnnotationAssertion( "COH"^^xsd:string) AnnotationAssertion( "COH1"^^xsd:string) AnnotationAssertion( "Norio syndrome"^^xsd:string) AnnotationAssertion( "Pepper syndrome"^^xsd:string) AnnotationAssertion( "VPS13B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hypotonia, obesity, and prominent incisors"^^xsd:string) AnnotationAssertion( "obesity-hypotonia syndrome"^^xsd:string) AnnotationAssertion( "prominent incisors-obesity-hypotonia syndrome"^^xsd:string) AnnotationAssertion( "trapped neutrophil syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111590"^^xsd:string) AnnotationAssertion(rdfs:label "Cohen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital heart defects, hamartomas of tongue, and polysyndactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1516223"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25427950"^^xsd:string) "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535849"^^xsd:string) AnnotationAssertion( "MESH:C537137"^^xsd:string) AnnotationAssertion( "WDPCP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4166"^^xsd:string) AnnotationAssertion( "MIM:217085"^^xsd:string) AnnotationAssertion( "ORDO:1338"^^xsd:string) AnnotationAssertion( "CHDTHP"^^xsd:string) AnnotationAssertion( "Orstavik Lindemann Solberg syndrome"^^xsd:string) AnnotationAssertion( "Ostravik-Lindemann-Solberg syndrome"^^xsd:string) AnnotationAssertion( "heart defect, tongue hamartoma and polysyndactyly"^^xsd:string) AnnotationAssertion( "heart defect-tongue hamartoma-polysyndactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111591"^^xsd:string) AnnotationAssertion(rdfs:label "congenital heart defects, hamartomas of tongue, and polysyndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (plasminogen deficiency type I) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12850227"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16849641"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9242524"^^xsd:string) "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:217090"^^xsd:string) AnnotationAssertion( "OMIA:002020"^^xsd:string) AnnotationAssertion( "PLG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4380"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.02"^^xsd:string) AnnotationAssertion( "MESH:C566897"^^xsd:string) AnnotationAssertion( "ORDO:722"^^xsd:string) AnnotationAssertion( "plasminogen deficiency, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DYSPLASMINOGENEMIA"^^xsd:string) AnnotationAssertion( "LIGNEOUS CONJUNCTIVITIS"^^xsd:string) AnnotationAssertion( "ligneous membranitis"^^xsd:string) AnnotationAssertion( "plasminogen deficiency, type II"^^xsd:string) AnnotationAssertion( "DOID:0111592"^^xsd:string) AnnotationAssertion(rdfs:label "plasminogen deficiency type I"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17103435"^^xsd:string) "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:187370"^^xsd:string) AnnotationAssertion( "MESH:C566069"^^xsd:string) AnnotationAssertion( "ORDO:251515"^^xsd:string) AnnotationAssertion( "DA10"^^xsd:string) AnnotationAssertion( "plantar flexion contracture"^^xsd:string) AnnotationAssertion( "short Achilles tendon"^^xsd:string) AnnotationAssertion( "short tendo calcaneus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111593"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 5D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23261301"^^xsd:string) "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615065"^^xsd:string) AnnotationAssertion( "ORDO:329457"^^xsd:string) AnnotationAssertion( "DA5D"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type 5 without ophthalmoparesis"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type 5 without ophthalmoplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111594"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 5D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital contractural arachnodactyly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4552107"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9106527"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9714438"^^xsd:string) "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:121050"^^xsd:string) AnnotationAssertion( "FBN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536211"^^xsd:string) AnnotationAssertion( "NCI:C129865"^^xsd:string) AnnotationAssertion( "ORDO:115"^^xsd:string) AnnotationAssertion( "Beals syndrome"^^xsd:string) AnnotationAssertion( "Beals-Hecht syndrome"^^xsd:string) AnnotationAssertion( "CCA"^^xsd:string) AnnotationAssertion( "DA9"^^xsd:string) AnnotationAssertion( "contractural arachnodactyly, Beals type"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type 9"^^xsd:string) AnnotationAssertion( "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis"^^xsd:string) AnnotationAssertion( "multiple contractures with arachnodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111595"^^xsd:string) AnnotationAssertion(rdfs:label "congenital contractural arachnodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7039311"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8923936"^^xsd:string) "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001339"^^xsd:string) AnnotationAssertion( "MESH:C565097"^^xsd:string) AnnotationAssertion( "MIM:126050"^^xsd:string) AnnotationAssertion( "GARD:787"^^xsd:string) AnnotationAssertion( "MESH:C535378"^^xsd:string) AnnotationAssertion( "ORDO:1146"^^xsd:string) AnnotationAssertion( "AMCD1"^^xsd:string) AnnotationAssertion( "DA1"^^xsd:string) AnnotationAssertion( "digitotalar dysmorphism"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita, type 1"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita, type I"^^xsd:string) AnnotationAssertion( "hereditary ulnar drift"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111596"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 1A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12592607"^^xsd:string) "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108120"^^xsd:string) AnnotationAssertion( "DA1A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111597"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 1B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20045868"^^xsd:string) "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614335"^^xsd:string) AnnotationAssertion( "DA1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111598"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 1B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 2B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9012416"^^xsd:string) "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538400"^^xsd:string) AnnotationAssertion( "DA2B"^^xsd:string) AnnotationAssertion( "FSSV"^^xsd:string) AnnotationAssertion( "Freeman-Sheldon syndrome variant"^^xsd:string) AnnotationAssertion( "SHS"^^xsd:string) AnnotationAssertion( "Sheldon-Hall syndrome"^^xsd:string) AnnotationAssertion( "arthrogryposis multiplex congenita, type 2B"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita type II, with craniofacial abnormalities"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita, type 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ARTHYRGRYPOSIS, DISTAL, TYPE 2B"^^xsd:string) AnnotationAssertion( "DOID:0111599"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 2B"^^xsd:string) SubClassOf( ) # Class: (distal arthrogryposis type 2B1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12592607"^^xsd:string) "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601680"^^xsd:string) AnnotationAssertion( "DA2B1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111600"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 2B1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 2B2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12865991"^^xsd:string) "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618435"^^xsd:string) AnnotationAssertion( "DA2B2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111601"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 2B2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 2B3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16642020"^^xsd:string) "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618436"^^xsd:string) AnnotationAssertion( "DA2B3"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type 2B3 (Sheldon-Hall)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111602"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 2B3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15282353"^^xsd:string) "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:158300"^^xsd:string) AnnotationAssertion( "MYH8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:2621"^^xsd:string) AnnotationAssertion( "MESH:C535857"^^xsd:string) AnnotationAssertion( "ORDO:3377"^^xsd:string) AnnotationAssertion( "DA7"^^xsd:string) AnnotationAssertion( "Dutch-Kentucky syndrome"^^xsd:string) AnnotationAssertion( "Hecht Syndrome"^^xsd:string) AnnotationAssertion( "Hecht-Beals syndrome"^^xsd:string) AnnotationAssertion( "inability to completely open mouth and short finger-flexor tendons"^^xsd:string) AnnotationAssertion( "trismus-pseudocamptodactyly"^^xsd:string) AnnotationAssertion( "trismus-pseudocamptodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111603"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Freeman-Sheldon syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21032118"^^xsd:string) "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535483"^^xsd:string) AnnotationAssertion( "NCI:C98931"^^xsd:string) AnnotationAssertion( "ORDO:2053"^^xsd:string) AnnotationAssertion( "FSS"^^xsd:string) AnnotationAssertion( "craniocarpotarsal dysplasia"^^xsd:string) AnnotationAssertion( "craniocarpotarsal dystrophy"^^xsd:string) AnnotationAssertion( "whistling face syndrome"^^xsd:string) AnnotationAssertion( "whistling face-windmill vane hand syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111604"^^xsd:string) AnnotationAssertion(rdfs:label "Freeman-Sheldon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 2A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16642020"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193700"^^xsd:string) AnnotationAssertion( "DA2A"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type 2A (Freeman-Sheldon)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111605"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive Whistling face syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20964128"^^xsd:string) "A Freeman-Sheldon syndrome that has autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "GARD:100024"^^xsd:string) AnnotationAssertion( "MIM:277720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111606"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive Whistling face syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24726473"^^xsd:string) "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:114300"^^xsd:string) AnnotationAssertion( "GARD:2553"^^xsd:string) AnnotationAssertion( "MESH:C537288"^^xsd:string) AnnotationAssertion( "ORDO:376"^^xsd:string) AnnotationAssertion( "DA3"^^xsd:string) AnnotationAssertion( "Gordon syndrome"^^xsd:string) AnnotationAssertion( "camptodactyly, cleft palate, and clubfoot"^^xsd:string) AnnotationAssertion( "camptodactyly-cleft palate-clubfoot syndrome"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita, type 2a"^^xsd:string) AnnotationAssertion( "distal arthrogryposis multiplex congenita, type IIa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111607"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23487782"^^xsd:string) "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108145"^^xsd:string) AnnotationAssertion( "GARD:4047"^^xsd:string) AnnotationAssertion( "MESH:C537737"^^xsd:string) AnnotationAssertion( "MONDO:0007158"^^xsd:string) AnnotationAssertion( "ORDO:1154"^^xsd:string) AnnotationAssertion( "DA5"^^xsd:string) AnnotationAssertion( "DAIIB"^^xsd:string) AnnotationAssertion( "arthrogryposis with oculomotor limitation and electroretinal abnormalities"^^xsd:string) AnnotationAssertion( "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type IIb"^^xsd:string) AnnotationAssertion( "distal arthrogryposis with ophthalmoplegia"^^xsd:string) AnnotationAssertion( "oculomelic amyoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111608"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5539065"^^xsd:string) "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108200"^^xsd:string) AnnotationAssertion( "GARD:784"^^xsd:string) AnnotationAssertion( "MESH:C535386"^^xsd:string) AnnotationAssertion( "ORDO:1144"^^xsd:string) AnnotationAssertion( "DA6"^^xsd:string) AnnotationAssertion( "arthrogryposis and sensorineural deafness"^^xsd:string) AnnotationAssertion( "arthrogryposis-like hand anomaly and sensorineural deafness"^^xsd:string) AnnotationAssertion( "arthrogryposis-like hand anomaly-sensorineural deafness syndrome"^^xsd:string) AnnotationAssertion( "familial hand abnormality and sensori-neural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111609"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19571066"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7039311"^^xsd:string) "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609128"^^xsd:string) AnnotationAssertion( "MESH:C563791"^^xsd:string) AnnotationAssertion( "ORDO:65720"^^xsd:string) AnnotationAssertion( "DA4"^^xsd:string) AnnotationAssertion( "DAIID"^^xsd:string) AnnotationAssertion( "arthrogryposis with severe scoliosis"^^xsd:string) AnnotationAssertion( "arthrogryposis-severe scoliosis syndrome"^^xsd:string) AnnotationAssertion( "distal arthrogryposis type IID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111610"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29604224"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607317"^^xsd:string) AnnotationAssertion( "GARD:4952"^^xsd:string) AnnotationAssertion( "MESH:C537310"^^xsd:string) AnnotationAssertion( "ORDO:95434"^^xsd:string) AnnotationAssertion( "SCA24"^^xsd:string) AnnotationAssertion( "SCAR4"^^xsd:string) AnnotationAssertion( "SCASI"^^xsd:string) AnnotationAssertion( "VPS13D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 24"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with saccadic intrusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111611"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 4"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11175288"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4154794"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4434170"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271250"^^xsd:string) AnnotationAssertion( "GARD:9971"^^xsd:string) AnnotationAssertion( "MESH:C537309"^^xsd:string) AnnotationAssertion( "ORDO:95433"^^xsd:string) AnnotationAssertion( "SCABD"^^xsd:string) AnnotationAssertion( "SCAR3"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia type 3"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia with blindness and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111612"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 3"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 23) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24658003"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616949"^^xsd:string) AnnotationAssertion( "ORDO:404493"^^xsd:string) AnnotationAssertion( "SCAR23"^^xsd:string) AnnotationAssertion( "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111613"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 23"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 22) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26157035"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616948"^^xsd:string) AnnotationAssertion( "MESH:C542540"^^xsd:string) AnnotationAssertion( "SCAR22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111614"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 22"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 24) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26872069"^^xsd:string) "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. (DO)"^^xsd:string) AnnotationAssertion( "UBA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617133"^^xsd:string) AnnotationAssertion( "SCAR24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111615"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 24"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 27) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30084953"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010248"^^xsd:string) AnnotationAssertion( "MIM:618369"^^xsd:string) AnnotationAssertion( "SCAR27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111616"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 27"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12811539"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4003033"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608029"^^xsd:string) AnnotationAssertion( "GARD:4954"^^xsd:string) AnnotationAssertion( "MESH:C537312"^^xsd:string) AnnotationAssertion( "ORDO:284332"^^xsd:string) AnnotationAssertion( "Norwegian infantile onset ataxia"^^xsd:string) AnnotationAssertion( "SCAR6"^^xsd:string) AnnotationAssertion( "autosomal recessive spinocerebellar ataxia type 6"^^xsd:string) AnnotationAssertion( "infantile nonprogressive cerebellar ataxia, autosomal recessive"^^xsd:string) AnnotationAssertion( "infantile-onset autosomal recessive nonprogressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111617"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 6"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive spinocerebellar ataxia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17159980"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27086870"^^xsd:string) "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C579934"^^xsd:string) AnnotationAssertion( "MIM:610743"^^xsd:string) AnnotationAssertion( "GARD:12234"^^xsd:string) AnnotationAssertion( "MESH:C565188"^^xsd:string) AnnotationAssertion( "ORDO:88644"^^xsd:string) AnnotationAssertion( "Arca1"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Cerebellar Ataxia Type 1"^^xsd:string) AnnotationAssertion( "SCAR8"^^xsd:string) AnnotationAssertion( "SYNE1-related autosomal recessive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "autosomal recessive ataxia, Beauce type"^^xsd:string) AnnotationAssertion( "recessive ataxia of Beauce"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111618"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spinocerebellar ataxia 8"^^xsd:string) SubClassOf( ) # Class: (combined D-2- and L-2-hydroxyglutaric aciduria) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10963100"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23561848"^^xsd:string) "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "SLC25A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615182"^^xsd:string) AnnotationAssertion( "ORDO:356978"^^xsd:string) AnnotationAssertion( "D,L-2-HGA"^^xsd:string) AnnotationAssertion( "D,L-2-hydroxyglutaric acidemia"^^xsd:string) AnnotationAssertion( "D,L-2-hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion( "D2L2AD"^^xsd:string) AnnotationAssertion( "combined D,L-2-hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion( "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia"^^xsd:string) AnnotationAssertion( "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111619"^^xsd:string) AnnotationAssertion(rdfs:label "combined D-2- and L-2-hydroxyglutaric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal dystrophy-perceptive deafness syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17220209"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5312820"^^xsd:string) "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T17:46:52Z"^^xsd:string) AnnotationAssertion( "MIM:217400"^^xsd:string) AnnotationAssertion( "GARD:1529"^^xsd:string) AnnotationAssertion( "MESH:C535473"^^xsd:string) AnnotationAssertion( "ORDO:1490"^^xsd:string) AnnotationAssertion( "CDPD"^^xsd:string) AnnotationAssertion( "CDPD1"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy and Perceptive Deafness"^^xsd:string) AnnotationAssertion( "Harboyan syndrome"^^xsd:string) AnnotationAssertion( "congenital corneal dystrophy, progressive sensorineural deafness"^^xsd:string) AnnotationAssertion( "corneal dystrophy and sensorineural deafness"^^xsd:string) AnnotationAssertion( "corneal dystrophy with progressive deafness"^^xsd:string) AnnotationAssertion( "corneal endothelial dystrophy and perceptive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111620"^^xsd:string) AnnotationAssertion(rdfs:label "corneal dystrophy-perceptive deafness syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Temtamy syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23453666"^^xsd:string) "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-09T08:33:00Z"^^xsd:string) AnnotationAssertion( "MIM:218340"^^xsd:string) AnnotationAssertion( "GARD:5688"^^xsd:string) AnnotationAssertion( "MESH:C536959"^^xsd:string) AnnotationAssertion( "NCI:C148371"^^xsd:string) AnnotationAssertion( "ORDO:1777"^^xsd:string) AnnotationAssertion( "Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation"^^xsd:string) AnnotationAssertion( "Dysmorphism, corpus callosum agenesis and colobomas"^^xsd:string) AnnotationAssertion( "TEMTYS"^^xsd:string) AnnotationAssertion( "Temtamy-Shalash syndrome"^^xsd:string) AnnotationAssertion( "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome"^^xsd:string) AnnotationAssertion( "mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111621"^^xsd:string) AnnotationAssertion(rdfs:label "Temtamy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ACTH-independent macronodular adrenal hyperplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16215323"^^xsd:string) "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-07T14:46:31Z"^^xsd:string) AnnotationAssertion( "EFO:0009041"^^xsd:string) AnnotationAssertion( "GARD:10824"^^xsd:string) AnnotationAssertion( "ORDO:189427"^^xsd:string) AnnotationAssertion( "Cushing syndrome due to macronodular adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "MMAD"^^xsd:string) AnnotationAssertion( "massive macronodular adrenocortical disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111622"^^xsd:string) AnnotationAssertion(rdfs:label "ACTH-independent macronodular adrenal hyperplasia"^^xsd:string) SubClassOf( ) # Class: (ACTH-independent macronodular adrenal hyperplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12727968"^^xsd:string) "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219080"^^xsd:string) AnnotationAssertion( "OMIA:001937"^^xsd:string) AnnotationAssertion( "MESH:C565662"^^xsd:string) AnnotationAssertion( "ACTH-independent Cushing syndrome"^^xsd:string) AnnotationAssertion( "ACTH-independent adrenal Cushing syndrome, somatic"^^xsd:string) AnnotationAssertion( "ACTH-independent macronodular adrenocortical hyperplasia"^^xsd:string) AnnotationAssertion( "AIMAH"^^xsd:string) AnnotationAssertion( "AIMAH1"^^xsd:string) AnnotationAssertion( "adrenal Cushing syndrome, due to AIMAH"^^xsd:string) AnnotationAssertion( "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "corticotropin-independent macronodular adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "primary macronodular adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111623"^^xsd:string) AnnotationAssertion(rdfs:label "ACTH-independent macronodular adrenal hyperplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ACTH-independent macronodular adrenal hyperplasia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24283224"^^xsd:string) "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009148"^^xsd:string) AnnotationAssertion( "MIM:615954"^^xsd:string) AnnotationAssertion( "AIMAH2"^^xsd:string) AnnotationAssertion( "ARMC5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MACRONODULAR ADRENAL HYPERPLASIA 2"^^xsd:string) AnnotationAssertion( "primary macronodular adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111624"^^xsd:string) AnnotationAssertion(rdfs:label "ACTH-independent macronodular adrenal hyperplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ventriculomegaly - cystic kidney disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2478019"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25557780"^^xsd:string) "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219730"^^xsd:string) AnnotationAssertion( "CRB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565657"^^xsd:string) AnnotationAssertion( "ORDO:443988"^^xsd:string) AnnotationAssertion( "VMCKD"^^xsd:string) AnnotationAssertion( "congenital nephrosis-cerebral ventriculomegaly syndrome"^^xsd:string) AnnotationAssertion( "cystic kidney disease with ventriculomegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111625"^^xsd:string) AnnotationAssertion(rdfs:label "ventriculomegaly - cystic kidney disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (D-glyceric aciduria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20949620"^^xsd:string) "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:220120"^^xsd:string) AnnotationAssertion( "GARD:234"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.59"^^xsd:string) AnnotationAssertion( "MESH:C535767"^^xsd:string) AnnotationAssertion( "NCI:C128804"^^xsd:string) AnnotationAssertion( "ORDO:128804"^^xsd:string) AnnotationAssertion( "ORDO:941"^^xsd:string) AnnotationAssertion( "D-Glyceric Acidemia"^^xsd:string) AnnotationAssertion( "D-Glycericacidemia"^^xsd:string) AnnotationAssertion( "D-glycerate kinase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of glycerate kinase"^^xsd:string) AnnotationAssertion( "glycerate kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111626"^^xsd:string) AnnotationAssertion(rdfs:label "D-glyceric aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DOORS syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/doors-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1132883"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24291220"^^xsd:string) "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-10T05:17:17Z"^^xsd:string) AnnotationAssertion( "MIM:220500"^^xsd:string) AnnotationAssertion( "GARD:1685"^^xsd:string) AnnotationAssertion( "MESH:C563052"^^xsd:string) AnnotationAssertion( "ORDO:79500"^^xsd:string) AnnotationAssertion( "DOOR syndrome"^^xsd:string) AnnotationAssertion( "DOORS"^^xsd:string) AnnotationAssertion( "DRC syndrome"^^xsd:string) AnnotationAssertion( "Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome"^^xsd:string) AnnotationAssertion( "Eronen syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness-onychodystrophy syndrome"^^xsd:string) AnnotationAssertion( "brachydactyly due to absence of distal phalanges"^^xsd:string) AnnotationAssertion( "deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome"^^xsd:string) AnnotationAssertion( "deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"^^xsd:string) AnnotationAssertion( "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome"^^xsd:string) AnnotationAssertion( "deafness-onychoosteodystrophy-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "digitorenocerebral syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111627"^^xsd:string) AnnotationAssertion(rdfs:label "DOORS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (high myopia-sensorineural deafness syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23543054"^^xsd:string) "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-11T13:26:12Z"^^xsd:string) AnnotationAssertion( "GARD:12844"^^xsd:string) AnnotationAssertion( "MIM:221200"^^xsd:string) AnnotationAssertion( "ORDO:363396"^^xsd:string) AnnotationAssertion( "DFNMYP"^^xsd:string) AnnotationAssertion( "deafness and myopia"^^xsd:string) AnnotationAssertion( "deafness and myopia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111628"^^xsd:string) AnnotationAssertion(rdfs:label "high myopia-sensorineural deafness syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dihydropyrimidinase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29054612"^^xsd:string) "A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222748"^^xsd:string) AnnotationAssertion( "GARD:12347"^^xsd:string) AnnotationAssertion( "MESH:C562815"^^xsd:string) AnnotationAssertion( "ORDO:38874"^^xsd:string) AnnotationAssertion( "DIHYDROPYRIMIDINURIA"^^xsd:string) AnnotationAssertion( "DPH deficiency"^^xsd:string) AnnotationAssertion( "DPYS deficiency"^^xsd:string) AnnotationAssertion( "DPYS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DPYSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111629"^^xsd:string) AnnotationAssertion(rdfs:label "dihydropyrimidinase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2542247"^^xsd:string) "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222800"^^xsd:string) AnnotationAssertion( "ORDO:714"^^xsd:string) AnnotationAssertion( "BISPHOSPHOGLYCEROMUTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "BPGM DEFICIENCY"^^xsd:string) AnnotationAssertion( "Bisphosphoglycerate Mutase Deficiency"^^xsd:string) AnnotationAssertion( "DPGM deficiency"^^xsd:string) AnnotationAssertion( "ECYT8"^^xsd:string) AnnotationAssertion( "diphosphoglycerate mutase deficiency of erythrocyte"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to diphosphoglycerate mutase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111630"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial erythrocytosis 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10676771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5913291"^^xsd:string) "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617981"^^xsd:string) AnnotationAssertion( "ECYT7"^^xsd:string) AnnotationAssertion( "ERYTHROCYTOSIS 7"^^xsd:string) AnnotationAssertion( "alpha-globin type erythrocytosis"^^xsd:string) AnnotationAssertion( "alpha-globin type polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111631"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 7"^^xsd:string) SubClassOf( ) # Class: (familial erythrocytosis 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10676771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17795074"^^xsd:string) "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617980"^^xsd:string) AnnotationAssertion( "ECYT6"^^xsd:string) AnnotationAssertion( "beta-globin type erythrocytosis"^^xsd:string) AnnotationAssertion( "beta-globin type polycythemia"^^xsd:string) AnnotationAssertion( "erythrocytosis 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111632"^^xsd:string) AnnotationAssertion(rdfs:label "familial erythrocytosis 6"^^xsd:string) SubClassOf( ) # Class: (congenital sucrase-isomaltase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3925457"^^xsd:string) "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222900"^^xsd:string) AnnotationAssertion( "GARD:7710"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.31"^^xsd:string) AnnotationAssertion( "MESH:C538139"^^xsd:string) AnnotationAssertion( "NCI:C128190"^^xsd:string) AnnotationAssertion( "ORDO:35122"^^xsd:string) AnnotationAssertion( "CSID"^^xsd:string) AnnotationAssertion( "Congenital Sucrose-Isomaltose Malabsorption"^^xsd:string) AnnotationAssertion( "Disaccharide intolerance, 1"^^xsd:string) AnnotationAssertion( "SI deficiency"^^xsd:string) AnnotationAssertion( "SI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital sucrase-isomaltose malabsorption"^^xsd:string) AnnotationAssertion( "congenital sucrose intolerance"^^xsd:string) AnnotationAssertion( "congenital sucrose-isomaltase malabsorption"^^xsd:string) AnnotationAssertion( "disaccharide intolerance"^^xsd:string) AnnotationAssertion( "disaccharide intolerance I"^^xsd:string) AnnotationAssertion( "sucrase-isomaltase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111633"^^xsd:string) AnnotationAssertion(rdfs:label "congenital sucrase-isomaltase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 99) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12673573"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618481"^^xsd:string) AnnotationAssertion( "DFNB99"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 99"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111634"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 99"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 57) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29048736"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618003"^^xsd:string) AnnotationAssertion( "DFNB57"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness-57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111635"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 57"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 113) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29703829"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618410"^^xsd:string) AnnotationAssertion( "DFNB113"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 113"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111636"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 113"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 112) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24312468"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618257"^^xsd:string) AnnotationAssertion( "DFNB112"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 112"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111637"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 112"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 100) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29590114"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618422"^^xsd:string) AnnotationAssertion( "DFNB100"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111638"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 100"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 109) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29107558"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618013"^^xsd:string) AnnotationAssertion( "DFNB109"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness-109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111639"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 109"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 111) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29961571"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29982980"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618145"^^xsd:string) AnnotationAssertion( "DFNB111"^^xsd:string) AnnotationAssertion( "MPZL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 111"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111640"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 111"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 94) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25807530"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618434"^^xsd:string) AnnotationAssertion( "DFNB94"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 94"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111641"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 94"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 114) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30610177"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-12T13:58:33Z"^^xsd:string) AnnotationAssertion( "MIM:618456"^^xsd:string) AnnotationAssertion( "MONDO:0032761"^^xsd:string) AnnotationAssertion( "DFNB114"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 114"^^xsd:string) AnnotationAssertion( "hearing loss, autosomal recessive 114"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111642"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 114"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 115) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30973865"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618457"^^xsd:string) AnnotationAssertion( "MONDO:0032762"^^xsd:string) AnnotationAssertion( "DFNB115"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 115"^^xsd:string) AnnotationAssertion( "hearing loss, autosomal recessive 115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111643"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 115"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 110) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29449721"^^xsd:string) "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-02T08:14:05Z"^^xsd:string) AnnotationAssertion( "MIM:618094"^^xsd:string) AnnotationAssertion( "DFNB110"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness-110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111644"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 110"^^xsd:string) SubClassOf( ) # Class: (Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31257402"^^xsd:string) "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608105"^^xsd:string) AnnotationAssertion( "MESH:C535499"^^xsd:string) AnnotationAssertion( "ORDO:163727"^^xsd:string) AnnotationAssertion( "EPRPDC"^^xsd:string) AnnotationAssertion( "RE-PED-WC"^^xsd:string) AnnotationAssertion( "Rolandic epilepsy, with paroxysmal exercise-induced dystonia and writer's cramp"^^xsd:string) AnnotationAssertion( "Rolandic-type focal motor epilepsy and exercise-induced dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111645"^^xsd:string) AnnotationAssertion(rdfs:label "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital lactase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/lactose-intolerance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16400612"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5419986"^^xsd:string) "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223000"^^xsd:string) AnnotationAssertion( "ICD10CM:E73.0"^^xsd:string) AnnotationAssertion( "MESH:C562600"^^xsd:string) AnnotationAssertion( "ORDO:53690"^^xsd:string) AnnotationAssertion( "CLD"^^xsd:string) AnnotationAssertion( "congenital alactasia"^^xsd:string) AnnotationAssertion( "congenital alactasia syndrome"^^xsd:string) AnnotationAssertion( "congenital lactose intolerance"^^xsd:string) AnnotationAssertion( "congenital lactose malabsorption"^^xsd:string) AnnotationAssertion( "disaccharide Intolerance II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111646"^^xsd:string) AnnotationAssertion(rdfs:label "congenital lactase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schopf-Schulz-Passarge syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19559398"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2947556"^^xsd:string) "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224750"^^xsd:string) AnnotationAssertion( "MESH:C565607"^^xsd:string) AnnotationAssertion( "ORDO:50944"^^xsd:string) AnnotationAssertion( "SSPS"^^xsd:string) AnnotationAssertion( "eccrine tumors with ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "eccrine tumors-ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111647"^^xsd:string) AnnotationAssertion(rdfs:label "Schopf-Schulz-Passarge syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectopia lentis with ectopia of pupil) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20702823"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7696232"^^xsd:string) "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:225200"^^xsd:string) AnnotationAssertion( "ADAMTSL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563268"^^xsd:string) AnnotationAssertion( "Ectopia Lentis et Pupillae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111648"^^xsd:string) AnnotationAssertion(rdfs:label "ectopia lentis with ectopia of pupil"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15805154"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6302256"^^xsd:string) "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225280"^^xsd:string) AnnotationAssertion( "CDH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:2078"^^xsd:string) AnnotationAssertion( "MESH:C536190"^^xsd:string) AnnotationAssertion( "ORDO:1897"^^xsd:string) AnnotationAssertion( "EEM Syndrome"^^xsd:string) AnnotationAssertion( "EEMS"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia, ectrodactyly, and macular dystrophy"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia-ectrodactyly-macular dystrophy"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111649"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27049303"^^xsd:string) "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617392"^^xsd:string) AnnotationAssertion( "ECTD13"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 13, hair/tooth type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111650"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 15) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30425301"^^xsd:string) "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618535"^^xsd:string) AnnotationAssertion( "ECTD15"^^xsd:string) AnnotationAssertion( "Ectodermal Dysplasia 15, Hypohidrotic/Hair Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111651"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27838789"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617337"^^xsd:string) AnnotationAssertion( "ECTD12"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111652"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 11A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17354266"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614940"^^xsd:string) AnnotationAssertion( "ECTD11A"^^xsd:string) AnnotationAssertion( "HED"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111653"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 11A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 11B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11780064"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614941"^^xsd:string) AnnotationAssertion( "ECTD11B"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111654"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 11B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pure hair and nail ectodermal dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23063621"^^xsd:string) "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566592"^^xsd:string) AnnotationAssertion( "ORDO:69084"^^xsd:string) AnnotationAssertion( "Ectodermal Dysplasia, Pure Hair-Nail Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111655"^^xsd:string) AnnotationAssertion(rdfs:label "pure hair and nail ectodermal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23063621"^^xsd:string) "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002157"^^xsd:string) AnnotationAssertion( "MIM:614931"^^xsd:string) AnnotationAssertion( "ECTD9"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 9, hair/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111656"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15675952"^^xsd:string) "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614927"^^xsd:string) AnnotationAssertion( "MONDO:0013973"^^xsd:string) AnnotationAssertion( "ECTD5"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 5, hair/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111657"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16525032"^^xsd:string) "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602032"^^xsd:string) AnnotationAssertion( "ECTD4"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 4, hair/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111658"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17107387"^^xsd:string) "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614928"^^xsd:string) AnnotationAssertion( "ECTD6"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 6, hair/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111659"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24714551"^^xsd:string) "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614929"^^xsd:string) AnnotationAssertion( "ECTD7"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 7, hair/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111660"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18184143"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/856958"^^xsd:string) "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602401"^^xsd:string) AnnotationAssertion( "ORDO:99672"^^xsd:string) AnnotationAssertion( "ECTD8"^^xsd:string) AnnotationAssertion( "Fried's tooth and nail syndrome"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 8, hair/tooth/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111661"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27736875"^^xsd:string) "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618180"^^xsd:string) AnnotationAssertion( "ECTD14"^^xsd:string) AnnotationAssertion( "ECTN14"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia-14 of the hair/tooth type"^^xsd:string) AnnotationAssertion( "TSPEAR-related disorder of tooth and hair follicle morphogenesis"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 14, hair/tooth type with hypohidrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111662"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 10A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10431241"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:129490"^^xsd:string) AnnotationAssertion( "MESH:D053359"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "ECTD10A"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "HED"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia 3"^^xsd:string) AnnotationAssertion( "autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/tooth type"^^xsd:string) AnnotationAssertion( "autosomal dominant ectodermal dysplasia-10A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111663"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 10A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8434608"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:305100"^^xsd:string) AnnotationAssertion( "OMIA:000543"^^xsd:string) AnnotationAssertion( "MESH:D053358"^^xsd:string) AnnotationAssertion( "ORDO:181"^^xsd:string) AnnotationAssertion( "CST syndrome"^^xsd:string) AnnotationAssertion( "CST syndromes"^^xsd:string) AnnotationAssertion( "Christ Siemens Touraine syndrome"^^xsd:string) AnnotationAssertion( "ECTD1"^^xsd:string) AnnotationAssertion( "ED1"^^xsd:string) AnnotationAssertion( "EDA"^^xsd:string) AnnotationAssertion( "EDA1"^^xsd:string) AnnotationAssertion( "HED1"^^xsd:string) AnnotationAssertion( "X-linked anhidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "X-linked anhydrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type"^^xsd:string) AnnotationAssertion( "X-linked hypohidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "X-linked hypohidrotic ectodermal dysplasia 1"^^xsd:string) AnnotationAssertion( "X-linked hypohydridic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "XHED"^^xsd:string) AnnotationAssertion( "XLHED"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia 1"^^xsd:string) AnnotationAssertion( "anhydrotic ectodermal dysplasia 1"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111664"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia 10B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10431241"^^xsd:string) "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224900"^^xsd:string) AnnotationAssertion( "anhidridic ectodermal dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "anhydridic ectodermal dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "anhydrotic ectodermal dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "MESH:D053360"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "ECTD10B"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "EDA"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111665"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia 10B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20206334"^^xsd:string) "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225790"^^xsd:string) AnnotationAssertion( "MESH:C565593"^^xsd:string) AnnotationAssertion( "ORDO:221126"^^xsd:string) AnnotationAssertion( "EPV"^^xsd:string) AnnotationAssertion( "Fowler syndrome"^^xsd:string) AnnotationAssertion( "Fowler vasculopathy"^^xsd:string) AnnotationAssertion( "Hydranencephaly, Fowler Type"^^xsd:string) AnnotationAssertion( "PVHH"^^xsd:string) AnnotationAssertion( "cerebral proliferative glomeruloid vasculopathy"^^xsd:string) AnnotationAssertion( "encephaloclastic proliferative vasculopathy"^^xsd:string) AnnotationAssertion( "hydrocephaly-hydranencephaly due to cerebral vasculopathy"^^xsd:string) AnnotationAssertion( "proliferative vasculopathy and hydranencephaly/hydrocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111666"^^xsd:string) AnnotationAssertion(rdfs:label "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (enterokinase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11719902"^^xsd:string) "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-10T15:38:52Z"^^xsd:string) AnnotationAssertion( "MIM:226200"^^xsd:string) AnnotationAssertion( "MESH:C562649"^^xsd:string) AnnotationAssertion( "ORDO:168601"^^xsd:string) AnnotationAssertion( "TMPRSS15-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital enterokinase deficiency"^^xsd:string) AnnotationAssertion( "congenital enteropathy due to enteropeptidase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of enteropeptidase"^^xsd:string) AnnotationAssertion( "enteropeptidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111667"^^xsd:string) AnnotationAssertion(rdfs:label "enterokinase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kohlschutter-Tonz syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22424600"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22482807"^^xsd:string) "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226750"^^xsd:string) AnnotationAssertion( "GARD:3128"^^xsd:string) AnnotationAssertion( "MESH:C537213"^^xsd:string) AnnotationAssertion( "ORDO:1946"^^xsd:string) AnnotationAssertion( "KTZS"^^xsd:string) AnnotationAssertion( "Kohlschutter syndrome"^^xsd:string) AnnotationAssertion( "Kohlschutter's syndrome"^^xsd:string) AnnotationAssertion( "amelocerebrohypohidrotic syndrome"^^xsd:string) AnnotationAssertion( "epilepsy and yellow teeth"^^xsd:string) AnnotationAssertion( "epilepsy, dementia, and amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "epilepsy-dementia-amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "epilepsy-dementia-amelogenesis imperfecta syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111668"^^xsd:string) AnnotationAssertion(rdfs:label "Kohlschutter-Tonz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyaline fibromatosis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22383261"^^xsd:string) "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228600"^^xsd:string) AnnotationAssertion( "MESH:D057770"^^xsd:string) AnnotationAssertion( "NCI:C98297"^^xsd:string) AnnotationAssertion( "ORDO:498474"^^xsd:string) AnnotationAssertion( "Fibromatosis Hyalinica Multiplex Juvenilis"^^xsd:string) AnnotationAssertion( "Fibromatosis Juvenile Hyaline"^^xsd:string) AnnotationAssertion( "HFS"^^xsd:string) AnnotationAssertion( "Infantile Systemic Hyalinosis"^^xsd:string) AnnotationAssertion( "Juvenile Hyalinosis"^^xsd:string) AnnotationAssertion( "Murray Syndrome"^^xsd:string) AnnotationAssertion( "Puretic Syndrome"^^xsd:string) AnnotationAssertion( "Puretic Syndromes"^^xsd:string) AnnotationAssertion( "hyaline fibromatosis syndromes"^^xsd:string) AnnotationAssertion( "infantile systemic hyalinoses"^^xsd:string) AnnotationAssertion( "inherited systemic hyalinosis"^^xsd:string) AnnotationAssertion( "juvenile hyaline fibromatoses"^^xsd:string) AnnotationAssertion( "juvenile hyalinoses"^^xsd:string) AnnotationAssertion( "systemic hyalinoses"^^xsd:string) AnnotationAssertion( "systemic hyalinosis"^^xsd:string) AnnotationAssertion( "systemic juvenile hyalinoses"^^xsd:string) AnnotationAssertion( "systemic juvenile hyalinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111669"^^xsd:string) AnnotationAssertion(rdfs:label "hyaline fibromatosis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary hyperoxaluria type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19479957"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2039493"^^xsd:string) "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259900"^^xsd:string) AnnotationAssertion( "OMIA:001672"^^xsd:string) AnnotationAssertion( "GARD:2835"^^xsd:string) AnnotationAssertion( "MESH:C536414"^^xsd:string) AnnotationAssertion( "NCI:C123212"^^xsd:string) AnnotationAssertion( "ORDO:93598"^^xsd:string) AnnotationAssertion( "HP1"^^xsd:string) AnnotationAssertion( "HYPEROXALURIA, PRIMARY, TYPE I"^^xsd:string) AnnotationAssertion( "Hepatic AGT Deficiency"^^xsd:string) AnnotationAssertion( "Oxalosis 1"^^xsd:string) AnnotationAssertion( "PH1"^^xsd:string) AnnotationAssertion( "alanine-glyoxylate aminotransferase deficiency"^^xsd:string) AnnotationAssertion( "glycolic aciduria"^^xsd:string) AnnotationAssertion( "oxalosis I"^^xsd:string) AnnotationAssertion( "peroxisomal alanine glyoxylate aminotransferase deficiency"^^xsd:string) AnnotationAssertion( "primary hyperoxaluria type I"^^xsd:string) AnnotationAssertion( "serine:pyruvate aminotransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111670"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperoxaluria type 1"^^xsd:string) SubClassOf( ) # Class: (primary hyperoxaluria type 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK2692/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10484776"^^xsd:string) "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260000"^^xsd:string) AnnotationAssertion( "GARD:2836"^^xsd:string) AnnotationAssertion( "MESH:C536415"^^xsd:string) AnnotationAssertion( "NCI:C123213"^^xsd:string) AnnotationAssertion( "ORDO:93599"^^xsd:string) AnnotationAssertion( "D-glycerate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "HP2"^^xsd:string) AnnotationAssertion( "L-glyceric aciduria"^^xsd:string) AnnotationAssertion( "glyceric aciduria"^^xsd:string) AnnotationAssertion( "glyoxylate reductase-hydroxypyruvate reductase deficiency"^^xsd:string) AnnotationAssertion( "oxalosis 2"^^xsd:string) AnnotationAssertion( "oxalosis II"^^xsd:string) AnnotationAssertion( "primary hyperoxaluria type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111671"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperoxaluria type 2"^^xsd:string) SubClassOf( ) # Class: (primary hyperoxaluria type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK316514/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26340091"^^xsd:string) "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10738"^^xsd:string) AnnotationAssertion( "MIM:613616"^^xsd:string) AnnotationAssertion( "NCI:C123214"^^xsd:string) AnnotationAssertion( "ORDO:93600"^^xsd:string) AnnotationAssertion( "HP3"^^xsd:string) AnnotationAssertion( "PH III"^^xsd:string) AnnotationAssertion( "primary hyperoxaluria type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111672"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperoxaluria type 3"^^xsd:string) SubClassOf( ) # Class: (Saul-Wilson syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30290151"^^xsd:string) "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618150"^^xsd:string) AnnotationAssertion( "ORDO:85172"^^xsd:string) AnnotationAssertion( "MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA"^^xsd:string) AnnotationAssertion( "SWILS"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic dysplasia, Saul-Wilson type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111673"^^xsd:string) AnnotationAssertion(rdfs:label "Saul-Wilson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intellectual developmental disorder with short stature and behavioral abnormalities) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31607425"^^xsd:string) "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618687"^^xsd:string) AnnotationAssertion( "EFO:0010652"^^xsd:string) AnnotationAssertion( "IDDSSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111674"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual developmental disorder with short stature and behavioral abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurooculocardiogenitourinary syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31327510"^^xsd:string) "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010663"^^xsd:string) AnnotationAssertion( "MIM:618652"^^xsd:string) AnnotationAssertion( "NOCGUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111675"^^xsd:string) AnnotationAssertion(rdfs:label "neurooculocardiogenitourinary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (high molecular weight kininogen deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12576314"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2989293"^^xsd:string) "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228960"^^xsd:string) AnnotationAssertion( "GARD:2684"^^xsd:string) AnnotationAssertion( "MESH:C537060"^^xsd:string) AnnotationAssertion( "NCI:C98946"^^xsd:string) AnnotationAssertion( "ORDO:483"^^xsd:string) AnnotationAssertion( "Fitzgerald Trait"^^xsd:string) AnnotationAssertion( "Flaujeac Factor Deficiency"^^xsd:string) AnnotationAssertion( "HMWK Deficiency"^^xsd:string) AnnotationAssertion( "congenital high-molecular-weight kininogen deficiency"^^xsd:string) AnnotationAssertion( "total kininogen deficiency"^^xsd:string) AnnotationAssertion( "FLAUJEAC TRAIT"^^xsd:string) AnnotationAssertion( "KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT"^^xsd:string) AnnotationAssertion( "Williams trait"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111676"^^xsd:string) AnnotationAssertion(rdfs:label "high molecular weight kininogen deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial benign fleck retina) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22137173"^^xsd:string) "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:228980"^^xsd:string) AnnotationAssertion( "MESH:C565564"^^xsd:string) AnnotationAssertion( "ORDO:363989"^^xsd:string) AnnotationAssertion( "FRFB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111677"^^xsd:string) AnnotationAssertion(rdfs:label "familial benign fleck retina"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary folate malabsorption) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17129779"^^xsd:string) "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:229050"^^xsd:string) AnnotationAssertion( "GARD:12983"^^xsd:string) AnnotationAssertion( "MESH:C562799"^^xsd:string) AnnotationAssertion( "NCI:C156424"^^xsd:string) AnnotationAssertion( "ORDO:90045"^^xsd:string) AnnotationAssertion( "congenital defect of folate absorption"^^xsd:string) AnnotationAssertion( "congenital folate malabsorption"^^xsd:string) AnnotationAssertion( "folic acid transport defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111678"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary folate malabsorption"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glutamate formiminotransferase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12815595"^^xsd:string) "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:229100"^^xsd:string) AnnotationAssertion( "GARD:9279"^^xsd:string) AnnotationAssertion( "MESH:C537425"^^xsd:string) AnnotationAssertion( "ORDO:51208"^^xsd:string) AnnotationAssertion( "Arakawa syndrome 1"^^xsd:string) AnnotationAssertion( "FIGLU-Uria"^^xsd:string) AnnotationAssertion( "FIGLUria"^^xsd:string) AnnotationAssertion( "FTCD deficiency"^^xsd:string) AnnotationAssertion( "formiminoglutamic acidemia"^^xsd:string) AnnotationAssertion( "formiminoglutamic aciduria"^^xsd:string) AnnotationAssertion( "formiminoglutamicaciduria (FIGLU-uria)"^^xsd:string) AnnotationAssertion( "formiminotransferase cyclodeaminase deficiency"^^xsd:string) AnnotationAssertion( "formiminotransferase deficiency"^^xsd:string) AnnotationAssertion( "formiminotransferase deficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111679"^^xsd:string) AnnotationAssertion(rdfs:label "glutamate formiminotransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (essential fructosuria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7833921"^^xsd:string) "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9001168"^^xsd:string) AnnotationAssertion( "MIM:229800"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.11"^^xsd:string) AnnotationAssertion( "MESH:C538068"^^xsd:string) AnnotationAssertion( "ORDO:2056"^^xsd:string) AnnotationAssertion( "Essential benign fructosuria"^^xsd:string) AnnotationAssertion( "Fructosuria"^^xsd:string) AnnotationAssertion( "Hepatic fructokinase deficiency"^^xsd:string) AnnotationAssertion( "Ketohexokinase deficiency"^^xsd:string) AnnotationAssertion( "fructokinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111680"^^xsd:string) AnnotationAssertion(rdfs:label "essential fructosuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glutamate-cysteine ligase deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10515893"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5058793"^^xsd:string) "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:230450"^^xsd:string) AnnotationAssertion( "MESH:C565557"^^xsd:string) AnnotationAssertion( "ORDO:33574"^^xsd:string) AnnotationAssertion( "gamma-glutamylcysteine synthetase deficiency"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111681"^^xsd:string) AnnotationAssertion(rdfs:label "glutamate-cysteine ligase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diffuse cystic renal dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21922595"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8725780"^^xsd:string) "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601331"^^xsd:string) AnnotationAssertion( "GARD:4658"^^xsd:string) AnnotationAssertion( "MESH:C537755"^^xsd:string) AnnotationAssertion( "CYSRD"^^xsd:string) AnnotationAssertion( "susceptibility to cystic renal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111682"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse cystic renal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurofibromatosis-Noonan syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12707950"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2411134"^^xsd:string) "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601321"^^xsd:string) AnnotationAssertion( "GARD:372"^^xsd:string) AnnotationAssertion( "MESH:C537393"^^xsd:string) AnnotationAssertion( "ORDO:638"^^xsd:string) AnnotationAssertion( "NFNS"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 1-Noonan syndrome"^^xsd:string) AnnotationAssertion( "neurofibromatosis with Noonan phenotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111683"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibromatosis-Noonan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary mixed polyposis syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8644741"^^xsd:string) "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS601228"^^xsd:string) AnnotationAssertion( "ORDO:157794"^^xsd:string) AnnotationAssertion( "HMPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111684"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary mixed polyposis syndrome"^^xsd:string) SubClassOf( ) # Class: (hereditary mixed polyposis syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22561515"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8644741"^^xsd:string) "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601228"^^xsd:string) AnnotationAssertion( "MESH:C563365"^^xsd:string) AnnotationAssertion( "CRAC1"^^xsd:string) AnnotationAssertion( "HMPS1"^^xsd:string) AnnotationAssertion( "chromosome 15q13-q14 duplication syndrome, 40-KB"^^xsd:string) AnnotationAssertion( "CRCS4"^^xsd:string) AnnotationAssertion( "colorectal adenoma and carcinoma 1"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111685"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary mixed polyposis syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary mixed polyposis syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16525031"^^xsd:string) "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610069"^^xsd:string) AnnotationAssertion( "MESH:C566451"^^xsd:string) AnnotationAssertion( "HMPS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111686"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary mixed polyposis syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Potocki-Shaffer syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20140962"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8644736"^^xsd:string) "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601224"^^xsd:string) AnnotationAssertion( "GARD:9762"^^xsd:string) AnnotationAssertion( "MESH:C538356"^^xsd:string) AnnotationAssertion( "NCI:C75456"^^xsd:string) AnnotationAssertion( "ORDO:52022"^^xsd:string) AnnotationAssertion( "11p11.2 deletion"^^xsd:string) AnnotationAssertion( "P11PDS"^^xsd:string) AnnotationAssertion( "PSS"^^xsd:string) AnnotationAssertion( "chromosome 11p11.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "defect11 syndrome"^^xsd:string) AnnotationAssertion( "deletion of chromosome 11p11.2"^^xsd:string) AnnotationAssertion( "proximal 11P deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111687"^^xsd:string) AnnotationAssertion(rdfs:label "Potocki-Shaffer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ayme-Gripp syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25865493"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8834052"^^xsd:string) "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601088"^^xsd:string) AnnotationAssertion( "EFO:0009020"^^xsd:string) AnnotationAssertion( "MESH:C563390"^^xsd:string) AnnotationAssertion( "AYGRP"^^xsd:string) AnnotationAssertion( "congenital cataracts with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111688"^^xsd:string) AnnotationAssertion(rdfs:label "Ayme-Gripp syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20548044"^^xsd:string) "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS601068"^^xsd:string) AnnotationAssertion( "ORDO:86814"^^xsd:string) AnnotationAssertion( "BAFME"^^xsd:string) AnnotationAssertion( "FAME"^^xsd:string) AnnotationAssertion( "FCMTE"^^xsd:string) AnnotationAssertion( "FMCTE"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonus epilepsy"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111689"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29939203"^^xsd:string) "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601068"^^xsd:string) AnnotationAssertion( "MESH:C563399"^^xsd:string) AnnotationAssertion( "BAFME1"^^xsd:string) AnnotationAssertion( "FAME1"^^xsd:string) AnnotationAssertion( "FCMTE1"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy 1"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy, type 1"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 1"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 1"^^xsd:string) AnnotationAssertion( "familial cortical tremor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111690"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23518707"^^xsd:string) "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615400"^^xsd:string) AnnotationAssertion( "FAME5"^^xsd:string) AnnotationAssertion( "FCMTE5"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 5"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111691"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22491192"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24114805"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31664034"^^xsd:string) "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T13:41:25Z"^^xsd:string) AnnotationAssertion( "MIM:607876"^^xsd:string) AnnotationAssertion( "MESH:C564313"^^xsd:string) AnnotationAssertion( "ADCME"^^xsd:string) AnnotationAssertion( "BAFME2"^^xsd:string) AnnotationAssertion( "FAME2"^^xsd:string) AnnotationAssertion( "FCMTE2"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy 2"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy type 2"^^xsd:string) AnnotationAssertion( "cortical myoclonus and epilepsy, autosomal dominant"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 2"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111692"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31539032"^^xsd:string) "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-30T14:46:13Z"^^xsd:string) AnnotationAssertion( "MIM:615127"^^xsd:string) AnnotationAssertion( "FAME4"^^xsd:string) AnnotationAssertion( "FCMTE4"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 4"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111693"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string) "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618075"^^xsd:string) AnnotationAssertion( "BAFME7"^^xsd:string) AnnotationAssertion( "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7"^^xsd:string) AnnotationAssertion( "FAME7"^^xsd:string) AnnotationAssertion( "FCMTE7"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 7"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111694"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31664039"^^xsd:string) "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613608"^^xsd:string) AnnotationAssertion( "MESH:C567098"^^xsd:string) AnnotationAssertion( "FAME3"^^xsd:string) AnnotationAssertion( "FCMTE3"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 3"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111695"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial adult myoclonic epilepsy 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29507423"^^xsd:string) "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618074"^^xsd:string) AnnotationAssertion( "BAFME6"^^xsd:string) AnnotationAssertion( "FAME6"^^xsd:string) AnnotationAssertion( "FCMTE6"^^xsd:string) AnnotationAssertion( "benign adult familial myoclonic epilepsy 6"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor and epilepsy 6"^^xsd:string) AnnotationAssertion( "familial cortical myoclonic tremor with epilepsy 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111696"^^xsd:string) AnnotationAssertion(rdfs:label "familial adult myoclonic epilepsy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cleft palate, cardiac defects, and intellectual disabillity) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24678003"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8825606"^^xsd:string) "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600987"^^xsd:string) AnnotationAssertion( "MEIS2-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C563414"^^xsd:string) AnnotationAssertion( "CPCMR"^^xsd:string) AnnotationAssertion( "Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies"^^xsd:string) AnnotationAssertion( "cleft palate, cardiac defects, and impaired intellectual development"^^xsd:string) AnnotationAssertion( "cleft palate, cardiac defects, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111697"^^xsd:string) AnnotationAssertion(rdfs:label "cleft palate, cardiac defects, and intellectual disabillity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proprotein convertase 1/3 deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14617756"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7477119"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9207799"^^xsd:string) "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T11:28:01Z"^^xsd:string) AnnotationAssertion( "MIM:600955"^^xsd:string) AnnotationAssertion( "MESH:C563423"^^xsd:string) AnnotationAssertion( "ORDO:71528"^^xsd:string) AnnotationAssertion( "PCI deficiency"^^xsd:string) AnnotationAssertion( "PCSK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "obesity and endocrinopathy due to impaired processing of prohormones"^^xsd:string) AnnotationAssertion( "obesity due to prohormone convertase I deficiency"^^xsd:string) AnnotationAssertion( "obesity with impaired prohormone processing"^^xsd:string) AnnotationAssertion( "proprotein convertase 1 3 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111698"^^xsd:string) AnnotationAssertion(rdfs:label "proprotein convertase 1/3 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van den Ende-Gupta syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23808541"^^xsd:string) "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600920"^^xsd:string) AnnotationAssertion( "OMIA:002016"^^xsd:string) AnnotationAssertion( "GARD:3382"^^xsd:string) AnnotationAssertion( "MESH:C535909"^^xsd:string) AnnotationAssertion( "ORDO:2460"^^xsd:string) AnnotationAssertion( "Marden Walker Like Syndrome"^^xsd:string) AnnotationAssertion( "Marden Walker like syndrome without psychomotor retardation"^^xsd:string) AnnotationAssertion( "Marden-Walker-like syndrome without psychmotor retardation"^^xsd:string) AnnotationAssertion( "VDEGS"^^xsd:string) AnnotationAssertion( "blepharophimosis, arachnodactyly, and congenital contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111699"^^xsd:string) AnnotationAssertion(rdfs:label "Van den Ende-Gupta syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ankyrin-B-related cardiac arrhythmia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15178757"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17242276"^^xsd:string) "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600919"^^xsd:string) AnnotationAssertion( "ANK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:13294"^^xsd:string) AnnotationAssertion( "MESH:C566996"^^xsd:string) AnnotationAssertion( "Ankyrin-B Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "ANK2-RELATED AUTISM"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 4"^^xsd:string) AnnotationAssertion( "LQT4"^^xsd:string) AnnotationAssertion( "DOID:0111700"^^xsd:string) AnnotationAssertion(rdfs:label "ankyrin-B-related cardiac arrhythmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long QT syndrome 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7485162"^^xsd:string) "A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10432"^^xsd:string) AnnotationAssertion( "MESH:C563428"^^xsd:string) AnnotationAssertion( "LQT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "ANK2-RELATED AUTISM"^^xsd:string) AnnotationAssertion( "DOID:0111701"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (loose anagen hair syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1705765"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2915059"^^xsd:string) "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600628"^^xsd:string) AnnotationAssertion( "GARD:3287"^^xsd:string) AnnotationAssertion( "MESH:D058247"^^xsd:string) AnnotationAssertion( "ORDO:168"^^xsd:string) AnnotationAssertion( "loose anagen syndrome"^^xsd:string) AnnotationAssertion( "loose anagen syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111702"^^xsd:string) AnnotationAssertion(rdfs:label "loose anagen hair syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hypertryptophanemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28285122"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7628119"^^xsd:string) "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-18T16:11:15Z"^^xsd:string) AnnotationAssertion( "DOID:9009018"^^xsd:string) AnnotationAssertion( "GARD:2871"^^xsd:string) AnnotationAssertion( "MESH:C563467"^^xsd:string) AnnotationAssertion( "MIM:600627"^^xsd:string) AnnotationAssertion( "MONDO:0010907"^^xsd:string) AnnotationAssertion( "ORDO:2224"^^xsd:string) AnnotationAssertion( "HYPTRP"^^xsd:string) AnnotationAssertion( "Hypertryptophanemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111703"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypertryptophanemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome 2q37 deletion syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23188045"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24715439"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25402011"^^xsd:string) "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600430"^^xsd:string) AnnotationAssertion( "MESH:C538317"^^xsd:string) AnnotationAssertion( "NCI:C129021"^^xsd:string) AnnotationAssertion( "ORDO:1001"^^xsd:string) AnnotationAssertion( "2q37 deletion syndrome"^^xsd:string) AnnotationAssertion( "2q37 microdeletion syndrome"^^xsd:string) AnnotationAssertion( "Albright hereditary osteodystrophy type 3"^^xsd:string) AnnotationAssertion( "Albright hereditary osteodystrophy-like syndrome"^^xsd:string) AnnotationAssertion( "Albright's hereditary osteodystrophy-like syndrome"^^xsd:string) AnnotationAssertion( "BDMR"^^xsd:string) AnnotationAssertion( "Brachydactyly-Mental Retardation syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 2, monosomy 2q37"^^xsd:string) AnnotationAssertion( "Del(2)(q37)"^^xsd:string) AnnotationAssertion( "Deletion 2q37"^^xsd:string) AnnotationAssertion( "brachydactyly-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "monosomy 2q37"^^xsd:string) AnnotationAssertion( "monosomy 2q37qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111704"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome 2q37 deletion syndrome"^^xsd:string) SubClassOf( ) # Class: (oculoectodermal syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25808193"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26970110"^^xsd:string) "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T14:28:13Z"^^xsd:string) AnnotationAssertion( "MIM:600268"^^xsd:string) AnnotationAssertion( "GARD:10366"^^xsd:string) AnnotationAssertion( "MESH:C563969"^^xsd:string) AnnotationAssertion( "ORDO:3339"^^xsd:string) AnnotationAssertion( "Aplasia Cutis Congenita with Epibulbar Dermoids"^^xsd:string) AnnotationAssertion( "OES"^^xsd:string) AnnotationAssertion( "Toriello-Lacassie-Droste syndrome"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita-epibulbar dermoids syndrome"^^xsd:string) AnnotationAssertion( "oculoectodermal syndrome, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111705"^^xsd:string) AnnotationAssertion(rdfs:label "oculoectodermal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oblique facial clefting 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21703590"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/820824"^^xsd:string) "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600251"^^xsd:string) AnnotationAssertion( "SPECC1L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537736"^^xsd:string) AnnotationAssertion( "OBLFC1"^^xsd:string) AnnotationAssertion( "Oculomaxillofacial Dysostosis"^^xsd:string) AnnotationAssertion( "Richieri Costa Gorlin syndrome"^^xsd:string) AnnotationAssertion( "Tessier number 4 facial cleft"^^xsd:string) AnnotationAssertion( "oblique facial clefts"^^xsd:string) AnnotationAssertion( "oculomaxillofacial dysplasia with oblique facial clefts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111706"^^xsd:string) AnnotationAssertion(rdfs:label "oblique facial clefting 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bothnian type palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23830519"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7531539"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1862"^^xsd:string) AnnotationAssertion( "MESH:C536173"^^xsd:string) AnnotationAssertion( "MIM:600231"^^xsd:string) AnnotationAssertion( "MONDO:0010849"^^xsd:string) AnnotationAssertion( "ORDO:2337"^^xsd:string) AnnotationAssertion( "Diffuse Palmoplantar Keratoderma, Bothnian Type"^^xsd:string) AnnotationAssertion( "PPKB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111707"^^xsd:string) AnnotationAssertion(rdfs:label "Bothnian type palmoplantar keratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (focal nonepidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21176769"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538682"^^xsd:string) AnnotationAssertion( "ORDO:448264"^^xsd:string) AnnotationAssertion( "FNEPPK"^^xsd:string) AnnotationAssertion( "Focal Palmoplantar Keratoderma"^^xsd:string) AnnotationAssertion( "Focal non epidermolytic palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "early onset tylosis (type B)"^^xsd:string) AnnotationAssertion( "familial tylosis"^^xsd:string) AnnotationAssertion( "hyperkeratosis of the palms and soles and esophageal papillomas"^^xsd:string) AnnotationAssertion( "isolated focal non-epidermolytic palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "late onset tylosis (type A)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111708"^^xsd:string) AnnotationAssertion(rdfs:label "focal nonepidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal nonepidermolytic palmoplantar keratoderma 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8595410"^^xsd:string) "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002088"^^xsd:string) AnnotationAssertion( "MIM:613000"^^xsd:string) AnnotationAssertion( "FNEPPK1"^^xsd:string) AnnotationAssertion( "PPKFNE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111709"^^xsd:string) AnnotationAssertion(rdfs:label "focal nonepidermolytic palmoplantar keratoderma 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal or diffuse nonepidermolytic palmoplantar keratoderma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19609311"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21801157"^^xsd:string) "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615735"^^xsd:string) AnnotationAssertion( "ORDO:402003"^^xsd:string) AnnotationAssertion( "PPKNEFD"^^xsd:string) AnnotationAssertion( "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111710"^^xsd:string) AnnotationAssertion(rdfs:label "focal or diffuse nonepidermolytic palmoplantar keratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal nonepidermolytic palmoplantar keratoderma 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25285920"^^xsd:string) "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616400"^^xsd:string) AnnotationAssertion( "FNEPPK2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111711"^^xsd:string) AnnotationAssertion(rdfs:label "focal nonepidermolytic palmoplantar keratoderma 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kagami-Ogata syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10951461"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12938037"^^xsd:string) "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608149"^^xsd:string) AnnotationAssertion( "MESH:C536471"^^xsd:string) AnnotationAssertion( "ORDO:254519"^^xsd:string) AnnotationAssertion( "Chromosome 14, Paternal Uniparental Disomy"^^xsd:string) AnnotationAssertion( "Paternal uniparental disomy 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111712"^^xsd:string) AnnotationAssertion(rdfs:label "Kagami-Ogata syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Temple syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18454453"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24891339"^^xsd:string) "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616222"^^xsd:string) AnnotationAssertion( "NCI:C120409"^^xsd:string) AnnotationAssertion( "ORDO:254516"^^xsd:string) AnnotationAssertion( "maternal uniparental disomy of chromosome 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111713"^^xsd:string) AnnotationAssertion(rdfs:label "Temple syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mulchandani-Bhoj-Conlin syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26248010"^^xsd:string) "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617352"^^xsd:string) AnnotationAssertion( "ORDO:96186"^^xsd:string) AnnotationAssertion( "MBCS"^^xsd:string) AnnotationAssertion( "UPD(20)mat"^^xsd:string) AnnotationAssertion( "maternal UPD(20)"^^xsd:string) AnnotationAssertion( "maternal uniparental disomy of chromosome 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111714"^^xsd:string) AnnotationAssertion(rdfs:label "Mulchandani-Bhoj-Conlin syndrome"^^xsd:string) SubClassOf( ) # Class: (Schaaf-Yang syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27195816"^^xsd:string) "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615547"^^xsd:string) AnnotationAssertion( "GARD:13316"^^xsd:string) AnnotationAssertion( "MESH:C535385"^^xsd:string) AnnotationAssertion( "ORDO:398069"^^xsd:string) AnnotationAssertion( "Chitayat-Hall syndrome"^^xsd:string) AnnotationAssertion( "MAGEL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MAGEL2-related PWLS"^^xsd:string) AnnotationAssertion( "MAGEL2-related Prader-Willi-like syndrome"^^xsd:string) AnnotationAssertion( "PWLS"^^xsd:string) AnnotationAssertion( "Prader-Willi-like syndrome"^^xsd:string) AnnotationAssertion( "SHFYNG"^^xsd:string) AnnotationAssertion( "distal arthrogryposis with hypopituitarism, mental retardation, and facial anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111715"^^xsd:string) AnnotationAssertion(rdfs:label "Schaaf-Yang syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cryptophthalmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30802441"^^xsd:string) "A physical disorder characterized by ocular dysplasia with eyelid malformation. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:743.06"^^xsd:string) AnnotationAssertion( "NCI:C124520"^^xsd:string) AnnotationAssertion( "ORDO:98562"^^xsd:string) AnnotationAssertion( "cryptophthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111716"^^xsd:string) AnnotationAssertion(rdfs:label "cryptophthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (isolated cryptophthalmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16352480"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29688405"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string) "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123570"^^xsd:string) AnnotationAssertion( "FREM2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565138"^^xsd:string) AnnotationAssertion( "ORDO:91396"^^xsd:string) AnnotationAssertion( "CRYPTOP"^^xsd:string) AnnotationAssertion( "Cryptophthalmos with Microphthalmia and Peters Anomaly"^^xsd:string) AnnotationAssertion( "isolated unilateral or bilateral cryptophthalmos"^^xsd:string) AnnotationAssertion( "simple ankyloblepharon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111717"^^xsd:string) AnnotationAssertion(rdfs:label "isolated cryptophthalmia"^^xsd:string) SubClassOf( ) # Class: (partial cryptophthalmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string) "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:98950"^^xsd:string) AnnotationAssertion( "incomplete cryptophthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111718"^^xsd:string) AnnotationAssertion(rdfs:label "partial cryptophthalmia"^^xsd:string) SubClassOf( ) # Class: (complete cryptophthalmia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string) "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:98949"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111719"^^xsd:string) AnnotationAssertion(rdfs:label "complete cryptophthalmia"^^xsd:string) SubClassOf( ) # Class: (congenital symblepharon) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16352480"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31366340"^^xsd:string) "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:98948"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111720"^^xsd:string) AnnotationAssertion(rdfs:label "congenital symblepharon"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30506946"^^xsd:string) "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-10T14:12:33Z"^^xsd:string) AnnotationAssertion( "ORDO:100032"^^xsd:string) AnnotationAssertion( "AI3"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type III"^^xsd:string) AnnotationAssertion( "hypocalcified amelogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111721"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 3"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta type 3C) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30506946"^^xsd:string) "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618386"^^xsd:string) AnnotationAssertion( "AI3C"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta type IIIC"^^xsd:string) AnnotationAssertion( "amelogenesis imperfecta, hypocalcification type, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111722"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta type 3C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jacobsen Syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4134631"^^xsd:string) "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147791"^^xsd:string) AnnotationAssertion( "GARD:307"^^xsd:string) AnnotationAssertion( "MESH:D054868"^^xsd:string) AnnotationAssertion( "NCI:C75457"^^xsd:string) AnnotationAssertion( "ORDO:2308"^^xsd:string) AnnotationAssertion( "11q deletion disorder"^^xsd:string) AnnotationAssertion( "11q deletion syndrome"^^xsd:string) AnnotationAssertion( "11q terminal deletion disorder"^^xsd:string) AnnotationAssertion( "11q23 deletion disorder"^^xsd:string) AnnotationAssertion( "Chromosome 11q Deletion Syndrome"^^xsd:string) AnnotationAssertion( "JBS"^^xsd:string) AnnotationAssertion( "Jacobsen Distal 11q Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Jacobsen thrombocytopenia"^^xsd:string) AnnotationAssertion( "Paris Trousseau syndrome"^^xsd:string) AnnotationAssertion( "Paris Trousseau thrombocytopenia"^^xsd:string) AnnotationAssertion( "partial 11q monosomy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111723"^^xsd:string) AnnotationAssertion(rdfs:label "Jacobsen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (geleophysic dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301776"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31516831"^^xsd:string) "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2449"^^xsd:string) AnnotationAssertion( "MIM:PS231050"^^xsd:string) AnnotationAssertion( "ORDO:2623"^^xsd:string) AnnotationAssertion( "GPHYSD"^^xsd:string) AnnotationAssertion( "geleophysic dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111724"^^xsd:string) AnnotationAssertion(rdfs:label "geleophysic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (geleophysic dysplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string) "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001509"^^xsd:string) AnnotationAssertion( "MIM:231050"^^xsd:string) AnnotationAssertion( "NCI:C202607"^^xsd:string) AnnotationAssertion( "ADAMTSL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GPHYSD1"^^xsd:string) AnnotationAssertion( "Musladin-Lueke syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111725"^^xsd:string) AnnotationAssertion(rdfs:label "geleophysic dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (geleophysic dysplasia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21683322"^^xsd:string) "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614185"^^xsd:string) AnnotationAssertion( "GPHYSD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111726"^^xsd:string) AnnotationAssertion(rdfs:label "geleophysic dysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (geleophysic dysplasia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27068007"^^xsd:string) "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617809"^^xsd:string) AnnotationAssertion( "GPHYSD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111727"^^xsd:string) AnnotationAssertion(rdfs:label "geleophysic dysplasia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial episodic pain syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24813307"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28298626"^^xsd:string) "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12684"^^xsd:string) AnnotationAssertion( "MIM:PS615040"^^xsd:string) AnnotationAssertion( "ORDO:391384"^^xsd:string) AnnotationAssertion( "FEPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111728"^^xsd:string) AnnotationAssertion(rdfs:label "familial episodic pain syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial episodic pain syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20547126"^^xsd:string) "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615040"^^xsd:string) AnnotationAssertion( "ORDO:391389"^^xsd:string) AnnotationAssertion( "FEPS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111729"^^xsd:string) AnnotationAssertion(rdfs:label "familial episodic pain syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial episodic pain syndrome 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23115331"^^xsd:string) "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615551"^^xsd:string) AnnotationAssertion( "FEPS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111730"^^xsd:string) AnnotationAssertion(rdfs:label "familial episodic pain syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial episodic pain syndrome 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24207120"^^xsd:string) "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615552"^^xsd:string) AnnotationAssertion( "NCI:C125390"^^xsd:string) AnnotationAssertion( "ORDO:391392"^^xsd:string) AnnotationAssertion( "FEPS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111731"^^xsd:string) AnnotationAssertion(rdfs:label "familial episodic pain syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eiken syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6734674"^^xsd:string) "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600002"^^xsd:string) AnnotationAssertion( "MESH:C564010"^^xsd:string) AnnotationAssertion( "ORDO:79106"^^xsd:string) AnnotationAssertion( "Eiken skeletal dysplasia"^^xsd:string) AnnotationAssertion( "bone modeling defect of hands and feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111732"^^xsd:string) AnnotationAssertion(rdfs:label "Eiken syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic hypoplasia-diabetes-congenital heart disease syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22158542"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8071961"^^xsd:string) "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9004418"^^xsd:string) AnnotationAssertion( "MESH:C536714"^^xsd:string) AnnotationAssertion( "MIM:600001"^^xsd:string) AnnotationAssertion( "MESH:C564011"^^xsd:string) AnnotationAssertion( "Congenital Heart Defects, and Other Congenital Anomalies"^^xsd:string) AnnotationAssertion( "HDCA"^^xsd:string) AnnotationAssertion( "PACHD"^^xsd:string) AnnotationAssertion( "Yorifuji-Okuno syndrome"^^xsd:string) AnnotationAssertion( "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease"^^xsd:string) AnnotationAssertion( "pancreatic agenesis and congenital heart defects"^^xsd:string) AnnotationAssertion( "pancreatic hypoplasia-diabetes-heart disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111733"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic hypoplasia-diabetes-congenital heart disease syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aminoglycoside-induced deafness) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16152638"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7689389"^^xsd:string) "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:02:10Z"^^xsd:string) AnnotationAssertion( "MIM:580000"^^xsd:string) AnnotationAssertion( "TRMU-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564013"^^xsd:string) AnnotationAssertion( "streptomycin ototoxicity"^^xsd:string) AnnotationAssertion( "streptomycin-induced deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Deafness, mitochondrial, modifier of"^^xsd:string) AnnotationAssertion( "DOID:0111734"^^xsd:string) AnnotationAssertion(rdfs:label "aminoglycoside-induced deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked deafness 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8872482"^^xsd:string) "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:28:26Z"^^xsd:string) AnnotationAssertion( "MIM:300066"^^xsd:string) AnnotationAssertion( "MESH:C564723"^^xsd:string) AnnotationAssertion( "NCI:C180844"^^xsd:string) AnnotationAssertion( "DFN6"^^xsd:string) AnnotationAssertion( "DFNX4"^^xsd:string) AnnotationAssertion( "Deafness, Nonsyndromic Sensorineural Progressive 6"^^xsd:string) AnnotationAssertion( "progressive X-linked deafness 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111735"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 4"^^xsd:string) SubClassOf( ) # Class: (X-linked deafness 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18005182"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7942846"^^xsd:string) "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300030"^^xsd:string) AnnotationAssertion( "MESH:C564727"^^xsd:string) AnnotationAssertion( "DFN4"^^xsd:string) AnnotationAssertion( "DFNX3"^^xsd:string) AnnotationAssertion( "X-linked deafness 4, congenital sensorineural"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111736"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 3"^^xsd:string) SubClassOf( ) # Class: (X-linked deafness 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20412083"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7839145"^^xsd:string) "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0080783"^^xsd:string) AnnotationAssertion( "MIM:304400"^^xsd:string) AnnotationAssertion( "MESH:C536424"^^xsd:string) AnnotationAssertion( "ORDO:383"^^xsd:string) AnnotationAssertion( "DFN3"^^xsd:string) AnnotationAssertion( "DFNX2"^^xsd:string) AnnotationAssertion( "Deafness 3, conductive, with stapes fixation"^^xsd:string) AnnotationAssertion( "Deafness, Conductive, with Stapes Fixation"^^xsd:string) AnnotationAssertion( "Nance deafness"^^xsd:string) AnnotationAssertion( "X-linked deafness type 2"^^xsd:string) AnnotationAssertion( "X-linked mixed conductive and neurosensory deafness"^^xsd:string) AnnotationAssertion( "X-linked mixed conductive and neurosensory hearing loss"^^xsd:string) AnnotationAssertion( "X-linked mixed conductive and sensorineural deafness"^^xsd:string) AnnotationAssertion( "X-linked mixed conductive and sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "X-linked sensorineural deafness"^^xsd:string) AnnotationAssertion( "X-linked stapes gusher syndrome"^^xsd:string) AnnotationAssertion( "mixed deafness with perilymphatic gusher"^^xsd:string) AnnotationAssertion( "perilymphatic gusher-deafness syndrome"^^xsd:string) AnnotationAssertion( "profound sensorineural deafness with or without a conductive component"^^xsd:string) AnnotationAssertion( "profound sensorineural deafness with or without a conductive component, associated with a unique developmental abnormality of the ear"^^xsd:string) AnnotationAssertion( "progressive hearing loss stapes fixation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111737"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked deafness 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28096187"^^xsd:string) "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301018"^^xsd:string) AnnotationAssertion( "ORDO:500188"^^xsd:string) AnnotationAssertion( "DFNX7"^^xsd:string) AnnotationAssertion( "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111738"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 7"^^xsd:string) SubClassOf( ) # Class: (X-linked deafness 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20021999"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8968763"^^xsd:string) "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304500"^^xsd:string) AnnotationAssertion( "MESH:C564433"^^xsd:string) AnnotationAssertion( "DFN2"^^xsd:string) AnnotationAssertion( "DFNX1"^^xsd:string) AnnotationAssertion( "X-linked deafness 2, sensorineural congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111739"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 1"^^xsd:string) SubClassOf( ) # Class: (X-linked deafness 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23714752"^^xsd:string) "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-11T14:51:18Z"^^xsd:string) AnnotationAssertion( "MIM:300914"^^xsd:string) AnnotationAssertion( "COL4A6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DFNX6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111740"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 6"^^xsd:string) SubClassOf( ) # Class: (X-linked deafness 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16816020"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25986071"^^xsd:string) "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300614"^^xsd:string) AnnotationAssertion( "MESH:C564472"^^xsd:string) AnnotationAssertion( "NCI:C180843"^^xsd:string) AnnotationAssertion( "ORDO:139583"^^xsd:string) AnnotationAssertion( "AUNX1"^^xsd:string) AnnotationAssertion( "DFNX5"^^xsd:string) AnnotationAssertion( "X-linked HSAN with deafness"^^xsd:string) AnnotationAssertion( "X-linked auditory neuropathy 1 with peripheral sensory neuropathy"^^xsd:string) AnnotationAssertion( "X-linked auditory neuropathy with peripheral sensory neuropathy type 1"^^xsd:string) AnnotationAssertion( "X-linked deafness 5 with peripheral neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111741"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked deafness 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebellar ataxia type 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26456284"^^xsd:string) "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "CACNA1G-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009059"^^xsd:string) AnnotationAssertion( "MIM:616795"^^xsd:string) AnnotationAssertion( "NCI:C171269"^^xsd:string) AnnotationAssertion( "ORDO:458803"^^xsd:string) AnnotationAssertion( "CACNA1G-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "SCA42"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR ATAXIA TYPE 42"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111742"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 42"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia type 47) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29474920"^^xsd:string) "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. (DO)"^^xsd:string) AnnotationAssertion( "PUM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617931"^^xsd:string) AnnotationAssertion( "SCA47"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 47"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 47"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111743"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 47"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia type 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25477146"^^xsd:string) "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009058"^^xsd:string) AnnotationAssertion( "MIM:616410"^^xsd:string) AnnotationAssertion( "ORDO:458798"^^xsd:string) AnnotationAssertion( "SCA41"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR ATAXIA TYPE 41"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111744"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 41"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia type 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27583304"^^xsd:string) "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (DO)"^^xsd:string) AnnotationAssertion( "MME-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009060"^^xsd:string) AnnotationAssertion( "MIM:617018"^^xsd:string) AnnotationAssertion( "ORDO:497764"^^xsd:string) AnnotationAssertion( "SCA43"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111745"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 43"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia type 48) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30381368"^^xsd:string) "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "2011-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010251"^^xsd:string) AnnotationAssertion( "MIM:618093"^^xsd:string) AnnotationAssertion( "SCA48"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia 48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111746"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 48"^^xsd:string) SubClassOf( ) # Class: (cerebellar ataxia type 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31632837"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9159738"^^xsd:string) "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10481"^^xsd:string) AnnotationAssertion( "MIM:612876"^^xsd:string) AnnotationAssertion( "SCA9"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR ATAXIA 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111747"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar ataxia type 9"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1550128"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500015"^^xsd:string) AnnotationAssertion( "NCI:C186788"^^xsd:string) AnnotationAssertion( "MC5DM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111748"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1"^^xsd:string) SubClassOf( ) # Class: (mitochondrial complex V (ATP synthase) deficiency nuclear type 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29917077"^^xsd:string) "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010656"^^xsd:string) AnnotationAssertion( "MIM:618683"^^xsd:string) AnnotationAssertion( "MC5DN6"^^xsd:string) AnnotationAssertion( "mitochondrial complex V deficiency, nuclear type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111749"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial complex V (ATP synthase) deficiency nuclear type 6"^^xsd:string) SubClassOf( ) # Class: (adult-onset ataxia and polyneuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16049925"^^xsd:string) "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T08:31:01Z"^^xsd:string) AnnotationAssertion( "MIM:500010"^^xsd:string) AnnotationAssertion( "MESH:C564020"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111750"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset ataxia and polyneuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial nonsyndromic sensorineural deafness) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10577941"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16650816"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17341440"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7689389"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8019558"^^xsd:string) "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500008"^^xsd:string) AnnotationAssertion( "NCI:C148321"^^xsd:string) AnnotationAssertion( "mitochondrially inherited nonsyndromic sensorineural deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111751"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial nonsyndromic sensorineural deafness"^^xsd:string) SubClassOf( ) # Class: (autosomal-mitochondrial sensorineural deafness) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1613771"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8817331"^^xsd:string) "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:221745"^^xsd:string) AnnotationAssertion( "MESH:C565637"^^xsd:string) AnnotationAssertion( "Sensorineural Deafness, Autosomal-Mitochondrial Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111752"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal-mitochondrial sensorineural deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infantile hypertrophic cardiomyopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19188198"^^xsd:string) "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500006"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111753"^^xsd:string) AnnotationAssertion(rdfs:label "infantile hypertrophic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (Leber plus disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27696015"^^xsd:string) "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:99718"^^xsd:string) AnnotationAssertion( "LHON plus disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111754"^^xsd:string) AnnotationAssertion(rdfs:label "Leber plus disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber hereditary optic neuropathy and dystonia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17562939"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19458970"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3711913"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3736869"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8644732"^^xsd:string) "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. (DO)"^^xsd:string) AnnotationAssertion( "MIM:500001"^^xsd:string) AnnotationAssertion( "MESH:C536024"^^xsd:string) AnnotationAssertion( "LDYT"^^xsd:string) AnnotationAssertion( "Leber Hereditary Optic Neuropathy With Dystonia"^^xsd:string) AnnotationAssertion( "Leber optic atrophy with dystonia"^^xsd:string) AnnotationAssertion( "Marsden Syndrome"^^xsd:string) AnnotationAssertion( "familial dystonia with visual failure and striatal lucencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111755"^^xsd:string) AnnotationAssertion(rdfs:label "Leber hereditary optic neuropathy and dystonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber hereditary optic neuropathy with demyelinating disease of CNS) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14213470"^^xsd:string) "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:165200"^^xsd:string) AnnotationAssertion( "optic atrophy with demyelinating disease of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111756"^^xsd:string) AnnotationAssertion(rdfs:label "Leber hereditary optic neuropathy with demyelinating disease of CNS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Y-linked deafness) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23352258"^^xsd:string) "A nonsyndromic deafness characterized by a Y-lnked inheritance mode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS400043"^^xsd:string) AnnotationAssertion( "DFNY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111757"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Y-linked deafness 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30341416"^^xsd:string) "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400047"^^xsd:string) AnnotationAssertion( "DFNY2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111758"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked deafness 2"^^xsd:string) SubClassOf( ) # Class: (Y-linked deafness 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18720061"^^xsd:string) "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400043"^^xsd:string) AnnotationAssertion( "DFNY1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111759"^^xsd:string) AnnotationAssertion(rdfs:label "Y-linked deafness 1"^^xsd:string) SubClassOf( ) # Class: (46,XX sex reversal) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301589"^^xsd:string) "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:000901"^^xsd:string) AnnotationAssertion( "GARD:399"^^xsd:string) AnnotationAssertion( "MESH:D058531"^^xsd:string) AnnotationAssertion( "ORDO:393"^^xsd:string) AnnotationAssertion( "46, XX Testicular DSD"^^xsd:string) AnnotationAssertion( "46, XX Testicular Disorder of Sex Development"^^xsd:string) AnnotationAssertion( "46, XX Testicular Disorders of Sex Development"^^xsd:string) AnnotationAssertion( "46, XX gonadal sex reversal"^^xsd:string) AnnotationAssertion( "De la Chapelle syndrome"^^xsd:string) AnnotationAssertion( "SRXX"^^xsd:string) AnnotationAssertion( "XX Male Syndrome"^^xsd:string) AnnotationAssertion( "XX Male Syndromes"^^xsd:string) AnnotationAssertion( "XX Sex Reversal"^^xsd:string) AnnotationAssertion( "XX Sex Reversals"^^xsd:string) AnnotationAssertion( "XX testicular DSD"^^xsd:string) AnnotationAssertion( "XX testicular DSD (disorder of sexual development)"^^xsd:string) AnnotationAssertion( "XXSR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111760"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XX sex reversal 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15378545"^^xsd:string) "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400045"^^xsd:string) AnnotationAssertion( "NCI:C179867"^^xsd:string) AnnotationAssertion( "46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE"^^xsd:string) AnnotationAssertion( "46,XX SEX REVERSAL, SRY-POSITIVE"^^xsd:string) AnnotationAssertion( "SRXX1"^^xsd:string) AnnotationAssertion( "SRY-positive XX male"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE"^^xsd:string) AnnotationAssertion( "OVOTESTICULAR DISORDER OF SEX DEVELOPMENT"^^xsd:string) AnnotationAssertion( "OVOTESTICULAR DSD"^^xsd:string) AnnotationAssertion( "DOID:0111761"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46,XX sex reversal 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21183788"^^xsd:string) "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300833"^^xsd:string) AnnotationAssertion( "CHROMOSOME Xq26 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "SRXX3"^^xsd:string) AnnotationAssertion( "46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111762"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46,XX sex reversal 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21208124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8262517"^^xsd:string) "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T14:46:37Z"^^xsd:string) AnnotationAssertion( "MIM:278850"^^xsd:string) AnnotationAssertion( "SRXX2"^^xsd:string) AnnotationAssertion( "chromosome 17q24 dupication syndrome"^^xsd:string) AnnotationAssertion( "chromosome 17q24 duplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111763"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46,XX sex reversal 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27378692"^^xsd:string) "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617480"^^xsd:string) AnnotationAssertion( "SRXX4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111764"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX sex reversal 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked cardiac valvular dysplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17190868"^^xsd:string) "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536197"^^xsd:string) AnnotationAssertion( "MIM:314400"^^xsd:string) AnnotationAssertion( "MESH:C535576"^^xsd:string) AnnotationAssertion( "NCI:C141423"^^xsd:string) AnnotationAssertion( "NCI:C173469"^^xsd:string) AnnotationAssertion( "ORDO:555877"^^xsd:string) AnnotationAssertion( "CVD1"^^xsd:string) AnnotationAssertion( "CVDPX"^^xsd:string) AnnotationAssertion( "Dystrophie valvulaire associee a FLNA"^^xsd:string) AnnotationAssertion( "EDS 5"^^xsd:string) AnnotationAssertion( "EDS5"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type 5"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, type V"^^xsd:string) AnnotationAssertion( "FLNA-related X-linked myxomatous valvular dysplasia"^^xsd:string) AnnotationAssertion( "FLNA-related valvular dystrophy"^^xsd:string) AnnotationAssertion( "X-linked myxomatous valvular dystrophy"^^xsd:string) AnnotationAssertion( "XMVD"^^xsd:string) AnnotationAssertion( "congenital valvular heart disease"^^xsd:string) AnnotationAssertion( "filamin A-related X-linked myxomatous valvular dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111765"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cardiac valvular dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked VACTERL association) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15502827"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20452998"^^xsd:string) "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:276950"^^xsd:string) AnnotationAssertion( "MIM:314390"^^xsd:string) AnnotationAssertion( "GARD:8498"^^xsd:string) AnnotationAssertion( "MESH:C564751"^^xsd:string) AnnotationAssertion( "MESH:C564752"^^xsd:string) AnnotationAssertion( "VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS"^^xsd:string) AnnotationAssertion( "VACTERL association with hydrocephaly"^^xsd:string) AnnotationAssertion( "VACTERL association with hydrocephaly, X-linked"^^xsd:string) AnnotationAssertion( "VACTERL hydrocephaly"^^xsd:string) AnnotationAssertion( "VACTERL-H"^^xsd:string) AnnotationAssertion( "VACTERL-H, X-Linked"^^xsd:string) AnnotationAssertion( "VACTERL/VATER Association with Hydrocephalus"^^xsd:string) AnnotationAssertion( "VACTERLX"^^xsd:string) AnnotationAssertion( "VATER Association with Hydrocephalus"^^xsd:string) AnnotationAssertion( "X-linked VACTERL association with hydrocephalus"^^xsd:string) AnnotationAssertion( "X-linked VACTERL-H syndrome"^^xsd:string) AnnotationAssertion( "VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS"^^xsd:string) AnnotationAssertion( "VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VATER/VACTERL association with CNS malformations"^^xsd:string) AnnotationAssertion( "DOID:0111766"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked VACTERL association"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked thrombocytopenia with beta-thalassemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18930124"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22102271"^^xsd:string) "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T14:00:27Z"^^xsd:string) AnnotationAssertion( "MIM:314050"^^xsd:string) AnnotationAssertion( "MESH:C564050"^^xsd:string) AnnotationAssertion( "NCI:C134941"^^xsd:string) AnnotationAssertion( "ORDO:231393"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis"^^xsd:string) AnnotationAssertion( "XLTT"^^xsd:string) AnnotationAssertion( "beta-thalassemia-X-linked thrombocytopenia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111767"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked thrombocytopenia with beta-thalassemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked properdin deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8530058"^^xsd:string) "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564075"^^xsd:string) AnnotationAssertion( "MESH:C564076"^^xsd:string) AnnotationAssertion( "MIM:312060"^^xsd:string) AnnotationAssertion( "GARD:9913"^^xsd:string) AnnotationAssertion( "MESH:C537241"^^xsd:string) AnnotationAssertion( "ORDO:2966"^^xsd:string) AnnotationAssertion( "CFP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CFPD"^^xsd:string) AnnotationAssertion( "PFD"^^xsd:string) AnnotationAssertion( "Properdin Deficiency, Type I"^^xsd:string) AnnotationAssertion( "complement factor properdin deficiency"^^xsd:string) AnnotationAssertion( "properdin P factor deficiency"^^xsd:string) AnnotationAssertion( "properdin deficiency, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Properdin Deficiency, Type II"^^xsd:string) AnnotationAssertion( "properdin deficiency, type III"^^xsd:string) AnnotationAssertion( "DOID:0111768"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked properdin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21129722"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:51:49Z"^^xsd:string) AnnotationAssertion( "MIM:613762"^^xsd:string) AnnotationAssertion( "MONDO:0013410"^^xsd:string) AnnotationAssertion( "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED"^^xsd:string) AnnotationAssertion( "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED"^^xsd:string) AnnotationAssertion( "46,XY sex reversal, type 6"^^xsd:string) AnnotationAssertion( "SRXY6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111769"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24549039"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-20T11:07:05Z"^^xsd:string) AnnotationAssertion( "MIM:616067"^^xsd:string) AnnotationAssertion( "46,XY sex reversal, ZFPM2-related"^^xsd:string) AnnotationAssertion( "SRXY9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111770"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10780781"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19417767"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567887"^^xsd:string) AnnotationAssertion( "MIM:154230"^^xsd:string) AnnotationAssertion( "MONDO:0007938"^^xsd:string) AnnotationAssertion( "NCI:C132270"^^xsd:string) AnnotationAssertion( "SRXY4"^^xsd:string) AnnotationAssertion( "chromosome 9p24.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "complete or partial 46,XY gonadal dysgenesis with 9p24.3 deletion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111771"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10369247"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612965"^^xsd:string) AnnotationAssertion( "MONDO:0013066"^^xsd:string) AnnotationAssertion( "46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure"^^xsd:string) AnnotationAssertion( "46,XY Sex Reversal, Partial or Complete, NR5A1-Related"^^xsd:string) AnnotationAssertion( "DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED"^^xsd:string) AnnotationAssertion( "SRXY3"^^xsd:string) AnnotationAssertion( "XY sex reversal, with or without adrenal failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111772"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21802064"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4352099"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614279"^^xsd:string) AnnotationAssertion( "MESH:C564109"^^xsd:string) AnnotationAssertion( "ORDO:443087"^^xsd:string) AnnotationAssertion( "SRXY8"^^xsd:string) AnnotationAssertion( "TDD"^^xsd:string) AnnotationAssertion( "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111773"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15356051"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T10:59:23Z"^^xsd:string) AnnotationAssertion( "MIM:233420"^^xsd:string) AnnotationAssertion( "MESH:C565537"^^xsd:string) AnnotationAssertion( "DHH-related 46,XY gonadal dysgenesis, complete"^^xsd:string) AnnotationAssertion( "DHH-related 46,XY gonadal dysgenesis, complete or partial"^^xsd:string) AnnotationAssertion( "DHH-related 46,XY sex reversal, partial or complete"^^xsd:string) AnnotationAssertion( "GDXYM"^^xsd:string) AnnotationAssertion( "SRXY7"^^xsd:string) AnnotationAssertion( "XY gonadal dysgenesis, male limited"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111774"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22051515"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616425"^^xsd:string) AnnotationAssertion( "SRXY10"^^xsd:string) AnnotationAssertion( "chromosome 17q24 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111775"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19361780"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613080"^^xsd:string) AnnotationAssertion( "MESH:C567766"^^xsd:string) AnnotationAssertion( "46,XY SEX REVERSAL, CBX2-RELATED"^^xsd:string) AnnotationAssertion( "46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related"^^xsd:string) AnnotationAssertion( "Disorder Of Sex Development, 46,Xy, Cbx2-Related"^^xsd:string) AnnotationAssertion( "SRXY5"^^xsd:string) AnnotationAssertion( "XY sex reversal, CBX2-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111776"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/567843"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7951319"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9159"^^xsd:string) AnnotationAssertion( "MESH:C535601"^^xsd:string) AnnotationAssertion( "MIM:300018"^^xsd:string) AnnotationAssertion( "MONDO:0010226"^^xsd:string) AnnotationAssertion( "NCI:C202543"^^xsd:string) AnnotationAssertion( "46,XY sex reversal, DAX1-related"^^xsd:string) AnnotationAssertion( "46XY sex reversal 2, dosage-sensitive"^^xsd:string) AnnotationAssertion( "DSS"^^xsd:string) AnnotationAssertion( "SRXY2"^^xsd:string) AnnotationAssertion( "dosage-sensitive sex reversal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111777"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1956279"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2247151"^^xsd:string) "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:400044"^^xsd:string) AnnotationAssertion( "NCI:C128188"^^xsd:string) AnnotationAssertion( "46,XY SEX REVERSAL, SRY-RELATED"^^xsd:string) AnnotationAssertion( "SRXY1"^^xsd:string) AnnotationAssertion( "46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED"^^xsd:string) AnnotationAssertion( "SEX-REVERSING LOCUS ON X"^^xsd:string) AnnotationAssertion( "SRVX"^^xsd:string) AnnotationAssertion( "TDFX"^^xsd:string) AnnotationAssertion( "X-chromosomal testis-determining factor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111778"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked panhypopituitarism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15800844"^^xsd:string) "A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312000"^^xsd:string) AnnotationAssertion( "GARD:6737"^^xsd:string) AnnotationAssertion( "MESH:C538613"^^xsd:string) AnnotationAssertion( "PHPX"^^xsd:string) AnnotationAssertion( "pituitary dwarfism IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111779"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked panhypopituitarism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (TARP syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20451169"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30450804"^^xsd:string) "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311900"^^xsd:string) AnnotationAssertion( "GARD:10089"^^xsd:string) AnnotationAssertion( "MESH:C536942"^^xsd:string) AnnotationAssertion( "ORDO:2886"^^xsd:string) AnnotationAssertion( "Pierre Robin sequence-congenital heart defect-talipes syndrome"^^xsd:string) AnnotationAssertion( "Pierre Robin syndrome with congenital heart malformation and clubfoot"^^xsd:string) AnnotationAssertion( "Pierre Robin syndrome-congenital heart defect-talipes syndrome"^^xsd:string) AnnotationAssertion( "TARPS"^^xsd:string) AnnotationAssertion( "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava"^^xsd:string) AnnotationAssertion( "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111780"^^xsd:string) AnnotationAssertion(rdfs:label "TARP syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Waisman syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25434005"^^xsd:string) "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3203"^^xsd:string) AnnotationAssertion( "MESH:C537179"^^xsd:string) AnnotationAssertion( "MIM:311510"^^xsd:string) AnnotationAssertion( "MONDO:0010709"^^xsd:string) AnnotationAssertion( "NCI:C184991"^^xsd:string) AnnotationAssertion( "ORDO:2379"^^xsd:string) AnnotationAssertion( "BGMR"^^xsd:string) AnnotationAssertion( "Basal Ganglion Disorder With Mental Retardation"^^xsd:string) AnnotationAssertion( "Laxova Brown Hogan syndrome"^^xsd:string) AnnotationAssertion( "Laxova-Opitz syndrome"^^xsd:string) AnnotationAssertion( "WSMN"^^xsd:string) AnnotationAssertion( "WSN"^^xsd:string) AnnotationAssertion( "X-linked recessive basal ganglia disorder with mental retardation"^^xsd:string) AnnotationAssertion( "basal ganglia disorder with mental retardation"^^xsd:string) AnnotationAssertion( "early onset parkinsonism with mental retardation"^^xsd:string) AnnotationAssertion( "early-onset parkinsonism-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111781"^^xsd:string) AnnotationAssertion(rdfs:label "Waisman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (otopalatodigital syndrome spectrum disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10706363"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16926860"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301567"^^xsd:string) "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567577"^^xsd:string) AnnotationAssertion( "ORDO:364541"^^xsd:string) AnnotationAssertion( "OPD spectrum disorder"^^xsd:string) AnnotationAssertion( "OPSD"^^xsd:string) AnnotationAssertion( "fronto-otopalatodigital osteodysplasia"^^xsd:string) AnnotationAssertion( "otopalatodigital spectrum disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111782"^^xsd:string) AnnotationAssertion(rdfs:label "otopalatodigital syndrome spectrum disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (otopalatodigital syndrome type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20301567"^^xsd:string) "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311300"^^xsd:string) AnnotationAssertion( "OTOPALATODIGITAL SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "GARD:5121"^^xsd:string) AnnotationAssertion( "MESH:C536065"^^xsd:string) AnnotationAssertion( "NCI:C118845"^^xsd:string) AnnotationAssertion( "ORDO:90650"^^xsd:string) AnnotationAssertion( "OPD I SYNDROME"^^xsd:string) AnnotationAssertion( "OPD syndrome 1"^^xsd:string) AnnotationAssertion( "OPD1"^^xsd:string) AnnotationAssertion( "Opd Syndrome, Type 1"^^xsd:string) AnnotationAssertion( "Taybi syndrome"^^xsd:string) AnnotationAssertion( "oto-palato-digital syndrome, type 1"^^xsd:string) AnnotationAssertion( "oto-palato-digital syndrome, type I"^^xsd:string) AnnotationAssertion( "otopalatodigital syndrome type I"^^xsd:string) AnnotationAssertion( "FRONTOOTOPALATODIGITAL OSTEODYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111783"^^xsd:string) AnnotationAssertion(rdfs:label "otopalatodigital syndrome type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otopalatodigital syndrome type 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15654694"^^xsd:string) "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304120"^^xsd:string) AnnotationAssertion( "GARD:5802"^^xsd:string) AnnotationAssertion( "MESH:C538089"^^xsd:string) AnnotationAssertion( "ORDO:90652"^^xsd:string) AnnotationAssertion( "Andre syndrome"^^xsd:string) AnnotationAssertion( "Cranioorodigital Syndrome"^^xsd:string) AnnotationAssertion( "FPO"^^xsd:string) AnnotationAssertion( "Faciopalatoosseous syndrome"^^xsd:string) AnnotationAssertion( "OPD II Syndrome"^^xsd:string) AnnotationAssertion( "OPD Syndrome 2"^^xsd:string) AnnotationAssertion( "OPD Syndrome, Type 2"^^xsd:string) AnnotationAssertion( "OPD2"^^xsd:string) AnnotationAssertion( "Oto-Palato-Digital Syndrome, Type 2"^^xsd:string) AnnotationAssertion( "cranio-oro-digital syndrome"^^xsd:string) AnnotationAssertion( "otopalatodigital syndrome type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111784"^^xsd:string) AnnotationAssertion(rdfs:label "otopalatodigital syndrome type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontometaphyseal dysplasia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15523633"^^xsd:string) "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "GARD:826"^^xsd:string) AnnotationAssertion( "MESH:C538064"^^xsd:string) AnnotationAssertion( "MIM:PS305620"^^xsd:string) AnnotationAssertion( "FMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111785"^^xsd:string) AnnotationAssertion(rdfs:label "frontometaphyseal dysplasia"^^xsd:string) SubClassOf( ) # Class: (frontometaphyseal dysplasia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15523633"^^xsd:string) "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:305620"^^xsd:string) AnnotationAssertion( "FMD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111786"^^xsd:string) AnnotationAssertion(rdfs:label "frontometaphyseal dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontometaphyseal dysplasia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27426733"^^xsd:string) "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T17:18:38Z"^^xsd:string) AnnotationAssertion( "MIM:617137"^^xsd:string) AnnotationAssertion( "FMD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111787"^^xsd:string) AnnotationAssertion(rdfs:label "frontometaphyseal dysplasia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Melnick-Needles syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612583"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16538226"^^xsd:string) "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7011"^^xsd:string) AnnotationAssertion( "MIM:309350"^^xsd:string) AnnotationAssertion( "ORDO:1826"^^xsd:string) AnnotationAssertion( "MNS"^^xsd:string) AnnotationAssertion( "Melnick Needles Osteodysplasty"^^xsd:string) AnnotationAssertion( "Osteodysplasty of Melnick and Needles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111788"^^xsd:string) AnnotationAssertion(rdfs:label "Melnick-Needles syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frank-Ter Haar syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15523657"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20137777"^^xsd:string) "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5138"^^xsd:string) AnnotationAssertion( "MESH:C537274"^^xsd:string) AnnotationAssertion( "MIM:249420"^^xsd:string) AnnotationAssertion( "MONDO:0009579"^^xsd:string) AnnotationAssertion( "ORDO:137834"^^xsd:string) AnnotationAssertion( "BORRONE DERMATOCARDIOSKELETAL SYNDROME"^^xsd:string) AnnotationAssertion( "Borrone Di Rocco Crovato Syndrome"^^xsd:string) AnnotationAssertion( "FTHS"^^xsd:string) AnnotationAssertion( "Melnick-Needles syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "Ter Haar syndrome"^^xsd:string) AnnotationAssertion( "megalocornea, multiple skeletal anomalies, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111789"^^xsd:string) AnnotationAssertion(rdfs:label "Frank-Ter Haar syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nystagmus 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17013395"^^xsd:string) "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-28T10:46:49Z"^^xsd:string) AnnotationAssertion( "MIM:310700"^^xsd:string) AnnotationAssertion( "GARD:2969"^^xsd:string) AnnotationAssertion( "MESH:C537853"^^xsd:string) AnnotationAssertion( "MESH:C580539"^^xsd:string) AnnotationAssertion( "FRMD7-related infantile nystagmus"^^xsd:string) AnnotationAssertion( "NYS1"^^xsd:string) AnnotationAssertion( "Nystagmus 1, Congenital, X- Linked"^^xsd:string) AnnotationAssertion( "Nystagmus 1, Infantile, X-Linked"^^xsd:string) AnnotationAssertion( "Nystagmus, congenital motor, 1"^^xsd:string) AnnotationAssertion( "X-Linked Congenital Nystagmus"^^xsd:string) AnnotationAssertion( "X-linked idiopathic infantile nystagmus"^^xsd:string) AnnotationAssertion( "X-linked infantile nystagmus"^^xsd:string) AnnotationAssertion( "congenital motor nystagmus"^^xsd:string) AnnotationAssertion( "IIN"^^xsd:string) AnnotationAssertion( "NYSTAGMUS, INFANTILE IDIOPATHIC"^^xsd:string) AnnotationAssertion( "NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED"^^xsd:string) AnnotationAssertion( "XIPAN"^^xsd:string) AnnotationAssertion( "XLPAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111790"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nystagmus 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22065086"^^xsd:string) "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614826"^^xsd:string) AnnotationAssertion( "NYS7"^^xsd:string) AnnotationAssertion( "congenital nystagmus 7, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111791"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nystagmus 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8661013"^^xsd:string) "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-21T14:21:39Z"^^xsd:string) AnnotationAssertion( "MIM:164100"^^xsd:string) AnnotationAssertion( "GARD:9599"^^xsd:string) AnnotationAssertion( "MESH:C537854"^^xsd:string) AnnotationAssertion( "NYS2"^^xsd:string) AnnotationAssertion( "Nystagmus 2, Congenital, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "congenital motor nystagmus 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111792"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nystagmus 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9806847"^^xsd:string) "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608345"^^xsd:string) AnnotationAssertion( "GARD:9600"^^xsd:string) AnnotationAssertion( "MESH:C537855"^^xsd:string) AnnotationAssertion( "NYS3"^^xsd:string) AnnotationAssertion( "congenital nystagmus 3, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111793"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital nystagmus 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17516023"^^xsd:string) "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "GPR143-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300814"^^xsd:string) AnnotationAssertion( "NYS6"^^xsd:string) AnnotationAssertion( "congenital nystagmus 6, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111795"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 6"^^xsd:string) SubClassOf( ) # Class: (congenital nystagmus 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10090899"^^xsd:string) "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300589"^^xsd:string) AnnotationAssertion( "NYS5"^^xsd:string) AnnotationAssertion( "congenital nystagmus 5, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111796"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive congenital nystagmus) AnnotationAssertion(Annotation( "https://europepmc.org/article/med/305814"^^xsd:string) "A congenital nystagmus characterized by autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:257400"^^xsd:string) AnnotationAssertion( "GARD:9609"^^xsd:string) AnnotationAssertion( "MESH:C564938"^^xsd:string) AnnotationAssertion( "congenital motor nystagmus, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111797"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital nystagmus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked nephrolithiasis type I) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15558518"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8559248"^^xsd:string) "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310468"^^xsd:string) AnnotationAssertion( "MESH:C562901"^^xsd:string) AnnotationAssertion( "NEPHROLITHIASIS, X-LINKED RECESSIVE"^^xsd:string) AnnotationAssertion( "NPHL1"^^xsd:string) AnnotationAssertion( "Nephrolithiasis 1"^^xsd:string) AnnotationAssertion( "Nephrolithiasis, X-Linked Recessive, Type 1"^^xsd:string) AnnotationAssertion( "Urolithiasis, X-Linked Recessive, Type 1"^^xsd:string) AnnotationAssertion( "X-linked nephrolithiasis with renal failure"^^xsd:string) AnnotationAssertion( "X-linked recessive nephrolithiasis with renal failure"^^xsd:string) AnnotationAssertion( "XRN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111798"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked nephrolithiasis type I"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 1) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30842225/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13300470"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24431331"^^xsd:string) "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0111810"^^xsd:string) AnnotationAssertion( "MIM:309800"^^xsd:string) AnnotationAssertion( "GARD:5066"^^xsd:string) AnnotationAssertion( "GARD:87"^^xsd:string) AnnotationAssertion( "MESH:C537464"^^xsd:string) AnnotationAssertion( "ORDO:568"^^xsd:string) AnnotationAssertion( "ORDO:85275"^^xsd:string) AnnotationAssertion( "ANOP1"^^xsd:string) AnnotationAssertion( "ANOPHTHALMIA - MICROPHTHALMIA"^^xsd:string) AnnotationAssertion( "Lenz dysmorphogenic syndrome"^^xsd:string) AnnotationAssertion( "Lenz dysplasia"^^xsd:string) AnnotationAssertion( "Lenz microphthalmia"^^xsd:string) AnnotationAssertion( "Lenz microphthalmia syndrome"^^xsd:string) AnnotationAssertion( "Lenz syndrome"^^xsd:string) AnnotationAssertion( "Lenz type microphthalmia"^^xsd:string) AnnotationAssertion( "MAA"^^xsd:string) AnnotationAssertion( "MCOPS1"^^xsd:string) AnnotationAssertion( "microphthalmia or anophthalmos with associated anomalies"^^xsd:string) AnnotationAssertion( "microphthalmia with ankyloblepharon and mental retardation"^^xsd:string) AnnotationAssertion( "microphthalmia-ankyloblepharon-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "MCOPS4"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111799"^^xsd:string) AnnotationAssertion(rdfs:comment "type 4 obsoleted by omim, merged into type 1[LS]"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 12) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17506106"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24075189"^^xsd:string) "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-21T11:40:53Z"^^xsd:string) AnnotationAssertion( "GARD:13235"^^xsd:string) AnnotationAssertion( "MIM:615524"^^xsd:string) AnnotationAssertion( "MCOPS12"^^xsd:string) AnnotationAssertion( "Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111800"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12612584"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20803647"^^xsd:string) "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:206900"^^xsd:string) AnnotationAssertion( "GARD:1443"^^xsd:string) AnnotationAssertion( "MESH:C565948"^^xsd:string) AnnotationAssertion( "ORDO:77298"^^xsd:string) AnnotationAssertion( "AEG syndrome"^^xsd:string) AnnotationAssertion( "Anophthalmia, Clinical, With Associated Anomalies"^^xsd:string) AnnotationAssertion( "Anophthalmia-Esophageal-Genital Syndrome"^^xsd:string) AnnotationAssertion( "MCOPS3"^^xsd:string) AnnotationAssertion( "Microphthalmia And Esophageal Atresia Syndrome"^^xsd:string) AnnotationAssertion( "SOX2-related eye disorders"^^xsd:string) AnnotationAssertion( "Sox2 Anophthalmia Syndrome"^^xsd:string) AnnotationAssertion( "anophthalmia microphthalmia esophageal atresia"^^xsd:string) AnnotationAssertion( "anophthalmia/microphthalmia-esophageal atresia syndrome"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 3"^^xsd:string) AnnotationAssertion( "OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111801"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 14) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24906020"^^xsd:string) "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615877"^^xsd:string) AnnotationAssertion( "ORDO:424099"^^xsd:string) AnnotationAssertion( "MCOPS14"^^xsd:string) AnnotationAssertion( "MCSKS"^^xsd:string) AnnotationAssertion( "MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "colobomatous microphthalmia-rhizomelic dysplasia syndrome"^^xsd:string) AnnotationAssertion( "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia"^^xsd:string) AnnotationAssertion( "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111802"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12471201"^^xsd:string) "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601349"^^xsd:string) AnnotationAssertion( "GARD:3693"^^xsd:string) AnnotationAssertion( "MESH:C537686"^^xsd:string) AnnotationAssertion( "ORDO:3434"^^xsd:string) AnnotationAssertion( "MCOPS8"^^xsd:string) AnnotationAssertion( "MMEP"^^xsd:string) AnnotationAssertion( "MMEP syndrome"^^xsd:string) AnnotationAssertion( "Viljoen-Smart syndrome"^^xsd:string) AnnotationAssertion( "microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism"^^xsd:string) AnnotationAssertion( "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111803"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 11) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22095910"^^xsd:string) "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-02T08:45:39Z"^^xsd:string) AnnotationAssertion( "MIM:614402"^^xsd:string) AnnotationAssertion( "MCOPS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111804"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 11"^^xsd:string) SubClassOf( ) # Class: (syndromic microphthalmia 6) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18252212"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21340693"^^xsd:string) "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607932"^^xsd:string) AnnotationAssertion( "BMP4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:3645"^^xsd:string) AnnotationAssertion( "MESH:C566440"^^xsd:string) AnnotationAssertion( "ORDO:139471"^^xsd:string) AnnotationAssertion( "Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia"^^xsd:string) AnnotationAssertion( "BMP4-RELATED SYNDROMIC MICROPHTHALMIA"^^xsd:string) AnnotationAssertion( "Bakrania-Ragge syndrome"^^xsd:string) AnnotationAssertion( "MCOPS6"^^xsd:string) AnnotationAssertion( "Microphthalmia And Pituitary Anomalies"^^xsd:string) AnnotationAssertion( "microphthalmia with brain and digit anomalies"^^xsd:string) AnnotationAssertion( "microphthalmia with brain and digit developmental anomalies"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111805"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15846561"^^xsd:string) "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610125"^^xsd:string) AnnotationAssertion( "GARD:3692"^^xsd:string) AnnotationAssertion( "MESH:C566441"^^xsd:string) AnnotationAssertion( "ORDO:178364"^^xsd:string) AnnotationAssertion( "ANOPHTHALMIA-MICROPHTHALMIA SYNDROME"^^xsd:string) AnnotationAssertion( "MCOPS5"^^xsd:string) AnnotationAssertion( "MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION,"^^xsd:string) AnnotationAssertion( "OTX2-RELATED SYNDROMIC MICROPHTHALMIA"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 5"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia/anophthalmia due to OTX2 mutation"^^xsd:string) AnnotationAssertion( "early-onset retinal dystrophy and pituitary dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111806"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17236193"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17273977"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26373900"^^xsd:string) "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T16:54:05Z"^^xsd:string) AnnotationAssertion( "DOID:0050819"^^xsd:string) AnnotationAssertion( "MIM:601186"^^xsd:string) AnnotationAssertion( "MESH:C537768"^^xsd:string) AnnotationAssertion( "ORDO:2470"^^xsd:string) AnnotationAssertion( "Anophthalmia with Pulmonary Hypoplasia"^^xsd:string) AnnotationAssertion( "ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME"^^xsd:string) AnnotationAssertion( "MCOPS9"^^xsd:string) AnnotationAssertion( "Matthew-Wood syndrome"^^xsd:string) AnnotationAssertion( "Spear Syndrome"^^xsd:string) AnnotationAssertion( "anophthalmia-pulmonary hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "anophthalmia/microphthalmia and pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations"^^xsd:string) AnnotationAssertion( "clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm"^^xsd:string) AnnotationAssertion( "pulmonary agenesis microphthalmi and diaphragmatic defect"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 9"^^xsd:string) AnnotationAssertion( "MCOPCB8"^^xsd:string) AnnotationAssertion( "PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8"^^xsd:string) AnnotationAssertion( "PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111807"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (linear skin defects with multiple congenital anomalies 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17033964"^^xsd:string) "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309801"^^xsd:string) AnnotationAssertion( "MESH:C537466"^^xsd:string) AnnotationAssertion( "LSDMCA1"^^xsd:string) AnnotationAssertion( "MCOPS7"^^xsd:string) AnnotationAssertion( "Microphthalmia with linear skin defect syndrome"^^xsd:string) AnnotationAssertion( "Midas syndrome"^^xsd:string) AnnotationAssertion( "microphthalmia with linear skin lesions syndrome"^^xsd:string) AnnotationAssertion( "microphthalmia, dermal aplasia, and sclerocornea"^^xsd:string) AnnotationAssertion( "microphthalmia-dermal aplasia-sclerocornea syndrome"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia 7"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111808"^^xsd:string) AnnotationAssertion(rdfs:label "linear skin defects with multiple congenital anomalies 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15004558"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8723122"^^xsd:string) "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300166"^^xsd:string) AnnotationAssertion( "GARD:4628"^^xsd:string) AnnotationAssertion( "MESH:C537465"^^xsd:string) AnnotationAssertion( "ORDO:2712"^^xsd:string) AnnotationAssertion( "ANOP2"^^xsd:string) AnnotationAssertion( "BCOR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BCOR-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MAA2"^^xsd:string) AnnotationAssertion( "MCOPS2"^^xsd:string) AnnotationAssertion( "Marashi Gorlin syndrome"^^xsd:string) AnnotationAssertion( "OFCD syndrome"^^xsd:string) AnnotationAssertion( "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome"^^xsd:string) AnnotationAssertion( "cataracts, microphthalmia, radiculomegaly and septal heart defects"^^xsd:string) AnnotationAssertion( "oculo facio cardio dental syndrome"^^xsd:string) AnnotationAssertion( "oculofaciocardiodental syndrome"^^xsd:string) AnnotationAssertion( "syndromic microphthalmia type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111809"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (syndromic microphthalmia 13) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24993872"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4998085"^^xsd:string) "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300915"^^xsd:string) AnnotationAssertion( "ORDO:431140"^^xsd:string) AnnotationAssertion( "MAINE MICROPHTHALMOS"^^xsd:string) AnnotationAssertion( "MCOPS13"^^xsd:string) AnnotationAssertion( "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"^^xsd:string) AnnotationAssertion( "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111811"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndromic microphthalmia 10) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16566018"^^xsd:string) "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611222"^^xsd:string) AnnotationAssertion( "GARD:9292"^^xsd:string) AnnotationAssertion( "MESH:C566985"^^xsd:string) AnnotationAssertion( "ORDO:77299"^^xsd:string) AnnotationAssertion( "MCOPS10"^^xsd:string) AnnotationAssertion( "MOBA"^^xsd:string) AnnotationAssertion( "microphthalmia and brain atrophy"^^xsd:string) AnnotationAssertion( "microphthalmia-brain atrophy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111812"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic microphthalmia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndactyly type 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23709756"^^xsd:string) "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309630"^^xsd:string) AnnotationAssertion( "GARD:3559"^^xsd:string) AnnotationAssertion( "MESH:C564100"^^xsd:string) AnnotationAssertion( "ORDO:2498"^^xsd:string) AnnotationAssertion( "MF4"^^xsd:string) AnnotationAssertion( "Metacarpal 4 5 Fusion"^^xsd:string) AnnotationAssertion( "fusion of metacarpals 4 and 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111813"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly type 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic acidemia and homocysteinemia cblX type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23000143"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24011988"^^xsd:string) "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563136"^^xsd:string) AnnotationAssertion( "MIM:309541"^^xsd:string) AnnotationAssertion( "ORDO:369962"^^xsd:string) AnnotationAssertion( "MAXCX"^^xsd:string) AnnotationAssertion( "MRX3"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 3"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 3"^^xsd:string) AnnotationAssertion( "XLID3"^^xsd:string) AnnotationAssertion( "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria with homocystinuria, type cblX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111814"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia and homocysteinemia cblX type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (low molecular weight proteinuria with hypercalciuric nephrocalcinosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9062355"^^xsd:string) "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:308990"^^xsd:string) AnnotationAssertion( "MESH:C545036"^^xsd:string) AnnotationAssertion( "low molecular weight proteinuria with hypercalciuria and nephrocalcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111815"^^xsd:string) AnnotationAssertion(rdfs:label "low molecular weight proteinuria with hypercalciuric nephrocalcinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndactyly type 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21167467"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7915184"^^xsd:string) "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5081"^^xsd:string) AnnotationAssertion( "MESH:C566096"^^xsd:string) AnnotationAssertion( "MIM:185900"^^xsd:string) AnnotationAssertion( "MONDO:0008512"^^xsd:string) AnnotationAssertion( "ORDO:93402"^^xsd:string) AnnotationAssertion( "CHROMOSOME 2q35 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "SD1"^^xsd:string) AnnotationAssertion( "SDTY1"^^xsd:string) AnnotationAssertion( "syndactyly type 1, with or without craniosynostosis"^^xsd:string) AnnotationAssertion( "syndactyly type I"^^xsd:string) AnnotationAssertion( "zygodactyly 2"^^xsd:string) AnnotationAssertion( "craniosynostosis, Philadelphia type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111816"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndactyly type 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12457340"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14361398"^^xsd:string) "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186100"^^xsd:string) AnnotationAssertion( "GARD:5088"^^xsd:string) AnnotationAssertion( "MESH:C538154"^^xsd:string) AnnotationAssertion( "ORDO:93404"^^xsd:string) AnnotationAssertion( "Ring and little finger syndactyly"^^xsd:string) AnnotationAssertion( "SDTY3"^^xsd:string) AnnotationAssertion( "Syndactyly of fingers four and five"^^xsd:string) AnnotationAssertion( "familial syndactyly type 3"^^xsd:string) AnnotationAssertion( "ringand little finger syndactyly"^^xsd:string) AnnotationAssertion( "syndactyly of fingers 4 and 5"^^xsd:string) AnnotationAssertion( "syndactyly of fingers IV and V"^^xsd:string) AnnotationAssertion( "syndactyly of the ring and little finger"^^xsd:string) AnnotationAssertion( "syndactyly type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111817"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndactyly type 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17476456"^^xsd:string) "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186200"^^xsd:string) AnnotationAssertion( "GARD:4434"^^xsd:string) AnnotationAssertion( "MESH:C566092"^^xsd:string) AnnotationAssertion( "ORDO:93405"^^xsd:string) AnnotationAssertion( "Haas type polysyndactyly"^^xsd:string) AnnotationAssertion( "Haas type syndactyly"^^xsd:string) AnnotationAssertion( "SD4"^^xsd:string) AnnotationAssertion( "SDTY4"^^xsd:string) AnnotationAssertion( "syndactyly type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111818"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syndactyly type 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16222680"^^xsd:string) "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186300"^^xsd:string) AnnotationAssertion( "GARD:5089"^^xsd:string) AnnotationAssertion( "MESH:C538155"^^xsd:string) AnnotationAssertion( "ORDO:93406"^^xsd:string) AnnotationAssertion( "SDTY5"^^xsd:string) AnnotationAssertion( "syndactyly type V"^^xsd:string) AnnotationAssertion( "syndactyly with associated metacarpal and metatarsal fusion"^^xsd:string) AnnotationAssertion( "syndactyly with metacarpal and metatarsal fusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111819"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (zygodactyly 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16189548"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27072775"^^xsd:string) "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C565223"^^xsd:string) AnnotationAssertion( "MIM:609815"^^xsd:string) AnnotationAssertion( "MONDO:0012351"^^xsd:string) AnnotationAssertion( "ZD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111820"^^xsd:string) AnnotationAssertion(rdfs:label "zygodactyly 1"^^xsd:string) SubClassOf( ) # Class: (ichthyosis follicularis-alopecia-photophobia syndrome 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22105905"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4037843"^^xsd:string) "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-03T10:50:34Z"^^xsd:string) AnnotationAssertion( "MESH:C536085"^^xsd:string) AnnotationAssertion( "MIM:308205"^^xsd:string) AnnotationAssertion( "MONDO:0100213"^^xsd:string) AnnotationAssertion( "IFAP syndrome 1"^^xsd:string) AnnotationAssertion( "IFAP syndrome with or without Bresheck syndrome"^^xsd:string) AnnotationAssertion( "IFAP syndrome-1 with or without Bresheck syndrome"^^xsd:string) AnnotationAssertion( "IFAP1"^^xsd:string) AnnotationAssertion( "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia"^^xsd:string) AnnotationAssertion( "ichthyosis follicularis-atrichia-photophobia syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111821"^^xsd:string) AnnotationAssertion(rdfs:label "ichthyosis follicularis-alopecia-photophobia syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CHILD syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7408908"^^xsd:string) "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MIM:308050"^^xsd:string) AnnotationAssertion( "OMIA:002117"^^xsd:string) AnnotationAssertion( "GARD:6039"^^xsd:string) AnnotationAssertion( "MESH:C562515"^^xsd:string) AnnotationAssertion( "ORDO:139"^^xsd:string) AnnotationAssertion( "CHILD nevus"^^xsd:string) AnnotationAssertion( "congenital hemidysplasia with ichthyosiform erythroderma and limb defects"^^xsd:string) AnnotationAssertion( "congenital hemidysplasia with ichthyosiform nevus and limbs defects"^^xsd:string) AnnotationAssertion( "unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111822"^^xsd:string) AnnotationAssertion(rdfs:label "CHILD syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal hemophilia A) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1169993"^^xsd:string) "A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:134500"^^xsd:string) AnnotationAssertion( "autosomal factor VIII deficiency"^^xsd:string) AnnotationAssertion( "MILD HEMOPHILIA A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111823"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal hemophilia A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aarskog syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome"^^xsd:string) "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535331"^^xsd:string) AnnotationAssertion( "ORDO:915"^^xsd:string) AnnotationAssertion( "AAS"^^xsd:string) AnnotationAssertion( "Aarskog disease"^^xsd:string) AnnotationAssertion( "Aarskog-Scott syndrome"^^xsd:string) AnnotationAssertion( "FGDY"^^xsd:string) AnnotationAssertion( "Facio-Digito-Genital Dysplasia"^^xsd:string) AnnotationAssertion( "faciodigitogenital syndrome"^^xsd:string) AnnotationAssertion( "faciogenital dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111824"^^xsd:string) AnnotationAssertion(rdfs:label "Aarskog syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant Aarskog syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6344635"^^xsd:string) "An Aarskog syndrome characterized by autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:100050"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111825"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant Aarskog syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abruzzo-Erickson syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22784330"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/839509"^^xsd:string) "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:22:42Z"^^xsd:string) AnnotationAssertion( "MIM:302905"^^xsd:string) AnnotationAssertion( "GARD:360"^^xsd:string) AnnotationAssertion( "MESH:C535559"^^xsd:string) AnnotationAssertion( "ORDO:921"^^xsd:string) AnnotationAssertion( "ABERS"^^xsd:string) AnnotationAssertion( "Charge-Like Syndrome, X-Linked"^^xsd:string) AnnotationAssertion( "cleft palate-coloboma-deafness syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111826"^^xsd:string) AnnotationAssertion(rdfs:label "Abruzzo-Erickson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked spinal muscular atrophy 2) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18179898"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3341327"^^xsd:string) "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301830"^^xsd:string) AnnotationAssertion( "GARD:8521"^^xsd:string) AnnotationAssertion( "MESH:C535380"^^xsd:string) AnnotationAssertion( "ORDO:1145"^^xsd:string) AnnotationAssertion( "Amcx1"^^xsd:string) AnnotationAssertion( "Arthrogryposis, X-Linked, Type I"^^xsd:string) AnnotationAssertion( "Distal Arthrogryposis Multiplex Congenita, X-Linked"^^xsd:string) AnnotationAssertion( "Smax2"^^xsd:string) AnnotationAssertion( "X-linked spinal muscular atrophy type 2"^^xsd:string) AnnotationAssertion( "X-linked spinal muscular atrophy, infantile"^^xsd:string) AnnotationAssertion( "X-linked spinal muscular atrophy, lethal infantile"^^xsd:string) AnnotationAssertion( "XLSMA"^^xsd:string) AnnotationAssertion( "distal AMC, X-linked"^^xsd:string) AnnotationAssertion( "infantile-onset X-linked spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy with arthrogryposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111827"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinal muscular atrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked cerebellar ataxia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10807077"^^xsd:string) "A hereditary ataxia characterized by X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:247765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111828"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked cerebellar ataxia"^^xsd:string) SubClassOf( ) # Class: (X-linked spinocerebellar ataxia 1) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10797423"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22912398"^^xsd:string) "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563134"^^xsd:string) AnnotationAssertion( "MIM:302500"^^xsd:string) AnnotationAssertion( "MONDO:0010547"^^xsd:string) AnnotationAssertion( "ORDO:1175"^^xsd:string) AnnotationAssertion( "OPCA, X-Linked"^^xsd:string) AnnotationAssertion( "OPCAX"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Atrophy, X-Linked"^^xsd:string) AnnotationAssertion( "SCAX1"^^xsd:string) AnnotationAssertion( "X-linked progressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "X-linked spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111829"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinocerebellar ataxia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked spinocerebellar ataxia 2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13541590"^^xsd:string) "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9978"^^xsd:string) AnnotationAssertion( "MESH:C537314"^^xsd:string) AnnotationAssertion( "MIM:302600"^^xsd:string) AnnotationAssertion( "MONDO:0010548"^^xsd:string) AnnotationAssertion( "SCAX2"^^xsd:string) AnnotationAssertion( "early-onset cerebellar ataxia with extrapyramidal involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111830"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinocerebellar ataxia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spinocerebellar ataxia 3) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3614654"^^xsd:string) "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301790"^^xsd:string) AnnotationAssertion( "GARD:9981"^^xsd:string) AnnotationAssertion( "MESH:C537315"^^xsd:string) AnnotationAssertion( "ORDO:85297"^^xsd:string) AnnotationAssertion( "SCAX3"^^xsd:string) AnnotationAssertion( "Schmidley syndrome"^^xsd:string) AnnotationAssertion( "X-linked ataxia-deafness syndrome"^^xsd:string) AnnotationAssertion( "X-linked spinocerebellar ataxia type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111831"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinocerebellar ataxia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spinocerebellar ataxia 4) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3470628"^^xsd:string) "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301840"^^xsd:string) AnnotationAssertion( "GARD:9980"^^xsd:string) AnnotationAssertion( "MESH:C537316"^^xsd:string) AnnotationAssertion( "ORDO:85292"^^xsd:string) AnnotationAssertion( "SCAX4"^^xsd:string) AnnotationAssertion( "X-linked ataxia-dementia syndrome"^^xsd:string) AnnotationAssertion( "X-linked spinocerebellar ataxia type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111832"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinocerebellar ataxia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spinocerebellar ataxia 5) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18241076"^^xsd:string) "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-15T08:51:37Z"^^xsd:string) AnnotationAssertion( "MESH:C567478"^^xsd:string) AnnotationAssertion( "MIM:300703"^^xsd:string) AnnotationAssertion( "MONDO:0010404"^^xsd:string) AnnotationAssertion( "ORDO:314978"^^xsd:string) AnnotationAssertion( "SCAX5"^^xsd:string) AnnotationAssertion( "X-linked non progressive cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111833"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spinocerebellar ataxia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked reticulate pigmentary disorder) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27019227"^^xsd:string) "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)"^^xsd:string) AnnotationAssertion( "POLA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564461"^^xsd:string) AnnotationAssertion( "MIM:301220"^^xsd:string) AnnotationAssertion( "ORDO:85453"^^xsd:string) AnnotationAssertion( "PDR"^^xsd:string) AnnotationAssertion( "Partington disease"^^xsd:string) AnnotationAssertion( "Pigmentary disorder, reticulate, with systemic manifestations, X-linked"^^xsd:string) AnnotationAssertion( "X-linked reticulate pigmentary disorder with systemic manifestations"^^xsd:string) AnnotationAssertion( "XLPDR"^^xsd:string) AnnotationAssertion( "familial cutaneous amyloidosis"^^xsd:string) AnnotationAssertion( "reticulate pigmentary disorder with systemic manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111834"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked reticulate pigmentary disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 9) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30061370"^^xsd:string) "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301035"^^xsd:string) AnnotationAssertion( "CHNG9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111835"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 7) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9141550"^^xsd:string) "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618573"^^xsd:string) AnnotationAssertion( "MESH:C566049"^^xsd:string) AnnotationAssertion( "ORDO:99832"^^xsd:string) AnnotationAssertion( "CHNG7"^^xsd:string) AnnotationAssertion( "TRH resistance syndrome"^^xsd:string) AnnotationAssertion( "central hypothyroidism due to TRH receptor deficiency"^^xsd:string) AnnotationAssertion( "generalized thyrotropin-releasing hormone resistance"^^xsd:string) AnnotationAssertion( "resistance to thyrotropin-releasing hormone syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111836"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nongoitrous hypothyroidism 8) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27603907"^^xsd:string) "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301033"^^xsd:string) AnnotationAssertion( "MONDO:0026731"^^xsd:string) AnnotationAssertion( "CHNG8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111837"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nongoitrous hypothyroidism 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Basilicata-Akhtar syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30224647"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301032"^^xsd:string) AnnotationAssertion( "MONDO:0026730"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36"^^xsd:string) AnnotationAssertion( "MRXS36"^^xsd:string) AnnotationAssertion( "MRXSBA"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 36"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation, Basilicata-Akhtar type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111838"^^xsd:string) AnnotationAssertion(rdfs:label "Basilicata-Akhtar syndrome"^^xsd:string) SubClassOf( ) # Class: (congenital disorder of glycosylation Icc) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31036665"^^xsd:string) "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "MAGT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:301031"^^xsd:string) AnnotationAssertion( "CDG1CC"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type 1CC"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation type Icc"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111839"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation Icc"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Van Esch-O'Driscoll syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31006512"^^xsd:string) "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)"^^xsd:string) AnnotationAssertion( "POLA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:301030"^^xsd:string) AnnotationAssertion( "ORDO:163976"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE"^^xsd:string) AnnotationAssertion( "MRXSVEOD"^^xsd:string) AnnotationAssertion( "VEODS"^^xsd:string) AnnotationAssertion( "X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111840"^^xsd:string) AnnotationAssertion(rdfs:label "Van Esch-O'Driscoll syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shukla-Vernon syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30941876"^^xsd:string) "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010278"^^xsd:string) AnnotationAssertion( "MIM:301029"^^xsd:string) AnnotationAssertion( "SHUVER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111841"^^xsd:string) AnnotationAssertion(rdfs:label "Shukla-Vernon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Keipert syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30982611"^^xsd:string) "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301026"^^xsd:string) AnnotationAssertion( "GARD:267"^^xsd:string) AnnotationAssertion( "MESH:C538337"^^xsd:string) AnnotationAssertion( "NCI:C186306"^^xsd:string) AnnotationAssertion( "ORDO:2662"^^xsd:string) AnnotationAssertion( "KPTS"^^xsd:string) AnnotationAssertion( "nasodigitoacoustic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111842"^^xsd:string) AnnotationAssertion(rdfs:label "Keipert syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paganini-Miozzo syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30471091"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010261"^^xsd:string) AnnotationAssertion( "MIM:301025"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE"^^xsd:string) AnnotationAssertion( "MRXSPM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111843"^^xsd:string) AnnotationAssertion(rdfs:label "Paganini-Miozzo syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked intellectual developmental disorder 108) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30335141"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301024"^^xsd:string) AnnotationAssertion( "MRX108"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 108"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111844"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked intellectual developmental disorder 108"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mullegama-Klein-Martinez syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28296084"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30765867"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-12T07:15:14Z"^^xsd:string) AnnotationAssertion( "STAG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "STAG2-related disorder"^^xsd:string) AnnotationAssertion( "MIM:301022"^^xsd:string) AnnotationAssertion( "MKMS"^^xsd:string) AnnotationAssertion( "NEDXCF"^^xsd:string) AnnotationAssertion( "X-linked neurodevelopmental disorder with craniofacial abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111845"^^xsd:string) AnnotationAssertion(rdfs:label "Mullegama-Klein-Martinez syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked congenital hemolytic anemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26944472"^^xsd:string) "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301015"^^xsd:string) AnnotationAssertion( "HACXL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111846"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked congenital hemolytic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 19) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27380894"^^xsd:string) "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301014"^^xsd:string) AnnotationAssertion( "NCI:C164153"^^xsd:string) AnnotationAssertion( "OI19"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XIX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111847"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 18) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29358272"^^xsd:string) "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T09:45:39Z"^^xsd:string) AnnotationAssertion( "MIM:617952"^^xsd:string) AnnotationAssertion( "OI18"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XVIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111848"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 20) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31564437"^^xsd:string) "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618644"^^xsd:string) AnnotationAssertion( "OI20"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111849"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 36) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28041644"^^xsd:string) "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-16T17:22:29Z"^^xsd:string) AnnotationAssertion( "MIM:300991"^^xsd:string) AnnotationAssertion( "CILD36"^^xsd:string) AnnotationAssertion( "X-linked primary ciliary dyskinesia 36"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 36, with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111850"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 36"^^xsd:string) SubClassOf( ) # Class: (primary ciliary dyskinesia 44) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31959991"^^xsd:string) "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618781"^^xsd:string) AnnotationAssertion( "CILD44"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 44 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111851"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 38) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29727692"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29727693"^^xsd:string) "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618063"^^xsd:string) AnnotationAssertion( "CILD38"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 38 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111852"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 40) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30471717"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30471718"^^xsd:string) "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-18T17:13:56Z"^^xsd:string) AnnotationAssertion( "MIM:618300"^^xsd:string) AnnotationAssertion( "CILD40"^^xsd:string) AnnotationAssertion( "DNAH9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 40 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111853"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 40"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 39) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30388400"^^xsd:string) "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618254"^^xsd:string) AnnotationAssertion( "CILD39"^^xsd:string) AnnotationAssertion( "LRRC56-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 39 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111854"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 39"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 42) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25048963"^^xsd:string) "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618695"^^xsd:string) AnnotationAssertion( "NCI:C202610"^^xsd:string) AnnotationAssertion( "CILD42"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 42 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111855"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 43) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31630787"^^xsd:string) "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618699"^^xsd:string) AnnotationAssertion( "MONDO:0032874"^^xsd:string) AnnotationAssertion( "CILD43"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 43 with or without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111856"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 43"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 45) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31978331"^^xsd:string) "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618801"^^xsd:string) AnnotationAssertion( "CILD45"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 45 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111857"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia 41) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30665704"^^xsd:string) "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618449"^^xsd:string) AnnotationAssertion( "CILD41"^^xsd:string) AnnotationAssertion( "GAS2L2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111858"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27811305/"^^xsd:string) "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300990"^^xsd:string) AnnotationAssertion( "AMMECR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MFHIEN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111859"^^xsd:string) AnnotationAssertion(rdfs:label "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AMME complex) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12011158/"^^xsd:string) "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300194"^^xsd:string) AnnotationAssertion( "MESH:C564570"^^xsd:string) AnnotationAssertion( "ORDO:86818"^^xsd:string) AnnotationAssertion( "AMME syndrome"^^xsd:string) AnnotationAssertion( "ATS-MR"^^xsd:string) AnnotationAssertion( "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis"^^xsd:string) AnnotationAssertion( "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"^^xsd:string) AnnotationAssertion( "chromosome Xq22.3 telomeric deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111860"^^xsd:string) AnnotationAssertion(rdfs:label "AMME complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meester-Loeys syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27632686/"^^xsd:string) "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T15:36:14Z"^^xsd:string) AnnotationAssertion( "BGN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300989"^^xsd:string) AnnotationAssertion( "NCI:C187989"^^xsd:string) AnnotationAssertion( "MRLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111861"^^xsd:string) AnnotationAssertion(rdfs:label "Meester-Loeys syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital bilateral absence of vas deferens) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27476656/"^^xsd:string) "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-10T09:58:44Z"^^xsd:string) AnnotationAssertion( "MESH:C535984"^^xsd:string) AnnotationAssertion( "MIM:PS277180"^^xsd:string) AnnotationAssertion( "NCI:C129303"^^xsd:string) AnnotationAssertion( "ORDO:48"^^xsd:string) AnnotationAssertion( "CAVD"^^xsd:string) AnnotationAssertion( "CBAVD"^^xsd:string) AnnotationAssertion( "Congenital Aplasia of Vas Deferens"^^xsd:string) AnnotationAssertion( "absence of vas deferens"^^xsd:string) AnnotationAssertion( "absent vasa"^^xsd:string) AnnotationAssertion( "congenital absence of vas deferens"^^xsd:string) AnnotationAssertion( "congenital bilateral absence of the vas deferens"^^xsd:string) AnnotationAssertion( "congenital bilateral agenesis of vas deferens"^^xsd:string) AnnotationAssertion( "congenital bilateral aplasia of the vas deferens"^^xsd:string) AnnotationAssertion( "congenital bilateral aplasia of vas deferens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111862"^^xsd:string) AnnotationAssertion(rdfs:label "congenital bilateral absence of vas deferens"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked congenital bilateral absence of vas deferens) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27476656/"^^xsd:string) "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300985"^^xsd:string) AnnotationAssertion( "CBAVDX"^^xsd:string) AnnotationAssertion( "congenital bilateral aplasia of vas deferens, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111863"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked congenital bilateral absence of vas deferens"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive congenital bilateral absence of vas deferens) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7529962/"^^xsd:string) "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:277180"^^xsd:string) AnnotationAssertion( "congenital bilateral aplasia of vas deferens from CFTR mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111864"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive congenital bilateral absence of vas deferens"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MEND syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22229330/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24700572/"^^xsd:string) "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300960"^^xsd:string) AnnotationAssertion( "ORDO:401973"^^xsd:string) AnnotationAssertion( "MEND"^^xsd:string) AnnotationAssertion( "male EBP disorder with neurologic defects"^^xsd:string) AnnotationAssertion( "male EBP disorder with neurological defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111865"^^xsd:string) AnnotationAssertion(rdfs:label "MEND syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichothiodystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string) "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D054463"^^xsd:string) AnnotationAssertion( "MIM:PS601675"^^xsd:string) AnnotationAssertion( "ORDO:33364"^^xsd:string) AnnotationAssertion( "IBIDS syndrome"^^xsd:string) AnnotationAssertion( "IBIDS syndromes"^^xsd:string) AnnotationAssertion( "Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature"^^xsd:string) AnnotationAssertion( "PIBIDS Syndrome"^^xsd:string) AnnotationAssertion( "PIBIDS syndromes"^^xsd:string) AnnotationAssertion( "Pollitt syndrome"^^xsd:string) AnnotationAssertion( "TTD"^^xsd:string) AnnotationAssertion( "Trichothiodystrophies"^^xsd:string) AnnotationAssertion( "ichthyosiform erythroderma with hair abnormality and mental and growth retardation"^^xsd:string) AnnotationAssertion( "trichothiodystrophy syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy syndromes"^^xsd:string) AnnotationAssertion( "trichothiodystrophy with congenital ichtyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111866"^^xsd:string) AnnotationAssertion(rdfs:label "trichothiodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string) "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. (DO)"^^xsd:string) AnnotationAssertion( "ABHS"^^xsd:string) AnnotationAssertion( "Amish Brittle Hair Brain Syndrome"^^xsd:string) AnnotationAssertion( "Amish Brittle Hair Syndrome"^^xsd:string) AnnotationAssertion( "BIDS"^^xsd:string) AnnotationAssertion( "BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME"^^xsd:string) AnnotationAssertion( "BIDS Syndrome"^^xsd:string) AnnotationAssertion( "BIDS Syndromes"^^xsd:string) AnnotationAssertion( "BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME"^^xsd:string) AnnotationAssertion( "Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome"^^xsd:string) AnnotationAssertion( "Hair Brain Syndrome"^^xsd:string) AnnotationAssertion( "Hair-Brain Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111867"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25612912/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31880405/"^^xsd:string) "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300953"^^xsd:string) AnnotationAssertion( "RNF113A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TTD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111868"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (photosensitive trichothiodystrophy 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9012405/"^^xsd:string) "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616390"^^xsd:string) AnnotationAssertion( "MONDO:0014615"^^xsd:string) AnnotationAssertion( "NCI:C173103"^^xsd:string) AnnotationAssertion( "TTD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111869"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive trichothiodystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31374204/"^^xsd:string) "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618546"^^xsd:string) AnnotationAssertion( "NCI:C173102"^^xsd:string) AnnotationAssertion( "TTD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111870"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (photosensitive trichothiodystrophy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15220921/"^^xsd:string) "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616395"^^xsd:string) AnnotationAssertion( "NCI:C173099"^^xsd:string) AnnotationAssertion( "TTD3"^^xsd:string) AnnotationAssertion( "TTDA"^^xsd:string) AnnotationAssertion( "trichothiodystrophy, complementation group A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111871"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive trichothiodystrophy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nonphotosensitive trichothiodystrophy 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26996949/"^^xsd:string) "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:616943"^^xsd:string) AnnotationAssertion( "TTD6"^^xsd:string) AnnotationAssertion( "trichothiodystrophy-6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111872"^^xsd:string) AnnotationAssertion(rdfs:label "nonphotosensitive trichothiodystrophy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (photosensitive trichothiodystrophy 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9195225/"^^xsd:string) "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C564734"^^xsd:string) AnnotationAssertion( "MIM:601675"^^xsd:string) AnnotationAssertion( "MONDO:0011125"^^xsd:string) AnnotationAssertion( "NCI:C156433"^^xsd:string) AnnotationAssertion( "ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION"^^xsd:string) AnnotationAssertion( "TTD1"^^xsd:string) AnnotationAssertion( "TTDP"^^xsd:string) AnnotationAssertion( "trichothiodystrophy type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111873"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive trichothiodystrophy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sabinas brittle hair syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7325159/"^^xsd:string) "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. (DO)"^^xsd:string) AnnotationAssertion( "MIM:211390"^^xsd:string) AnnotationAssertion( "MESH:C536320"^^xsd:string) AnnotationAssertion( "ORDO:3123"^^xsd:string) AnnotationAssertion( "Sabinas syndrome"^^xsd:string) AnnotationAssertion( "brittle hair and mental deficit"^^xsd:string) AnnotationAssertion( "brittle hair-mental deficiency syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy type B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111874"^^xsd:string) AnnotationAssertion(rdfs:label "Sabinas brittle hair syndrome"^^xsd:string) SubClassOf( ) # Class: (MLS syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20301767/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK7041/"^^xsd:string) "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:PS309801"^^xsd:string) AnnotationAssertion( "MLS"^^xsd:string) AnnotationAssertion( "linear skin defects with multiple congenital anomalies"^^xsd:string) AnnotationAssertion( "microphthalmia with linear skin defects"^^xsd:string) AnnotationAssertion( "microphthalmia with linear skin defects syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111875"^^xsd:string) AnnotationAssertion(rdfs:label "MLS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (linear skin defects with multiple congenital anomalies 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25772934/"^^xsd:string) "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300952"^^xsd:string) AnnotationAssertion( "LSDMCA3"^^xsd:string) AnnotationAssertion( "linear skin defects with cardiomyopathy and other congenital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111876"^^xsd:string) AnnotationAssertion(rdfs:label "linear skin defects with multiple congenital anomalies 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (linear skin defects with multiple congenital anomalies 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23122588/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9747372/"^^xsd:string) "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300887"^^xsd:string) AnnotationAssertion( "APLCC"^^xsd:string) AnnotationAssertion( "LSDMCA2"^^xsd:string) AnnotationAssertion( "reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111877"^^xsd:string) AnnotationAssertion(rdfs:label "linear skin defects with multiple congenital anomalies 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:20:08Z"^^xsd:string) AnnotationAssertion( "MIM:612562"^^xsd:string) AnnotationAssertion( "MESH:C567254"^^xsd:string) AnnotationAssertion( "DBA7"^^xsd:string) AnnotationAssertion( "RPL11-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111878"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612561"^^xsd:string) AnnotationAssertion( "MESH:C538442"^^xsd:string) AnnotationAssertion( "Aase Smith Syndrome 2"^^xsd:string) AnnotationAssertion( "Aase-Smith syndrome II"^^xsd:string) AnnotationAssertion( "DBA6"^^xsd:string) AnnotationAssertion( "RPL5-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "anemia and triphalangeal thumbs"^^xsd:string) AnnotationAssertion( "congenital anemia and triphalangeal thumbs"^^xsd:string) AnnotationAssertion( "hypoplastic anemia-triphalangeal thumbs, Aase-Smith type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111879"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25424902/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617409"^^xsd:string) AnnotationAssertion( "DBA17"^^xsd:string) AnnotationAssertion( "RPS27-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111880"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19061985/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-11T15:16:36Z"^^xsd:string) AnnotationAssertion( "MIM:612563"^^xsd:string) AnnotationAssertion( "MESH:C567253"^^xsd:string) AnnotationAssertion( "DBA8"^^xsd:string) AnnotationAssertion( "RPS7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RPS7-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111881"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23812780/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-28T10:44:39Z"^^xsd:string) AnnotationAssertion( "MIM:615550"^^xsd:string) AnnotationAssertion( "DBA12"^^xsd:string) AnnotationAssertion( "RPL15-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RPL15-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111882"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18535205/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-26T10:14:05Z"^^xsd:string) AnnotationAssertion( "MIM:612528"^^xsd:string) AnnotationAssertion( "MESH:C567280"^^xsd:string) AnnotationAssertion( "DBA5"^^xsd:string) AnnotationAssertion( "RPL35A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RPL35A-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111883"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20116044/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613308"^^xsd:string) AnnotationAssertion( "MESH:C567650"^^xsd:string) AnnotationAssertion( "DBA9"^^xsd:string) AnnotationAssertion( "RPS10-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111884"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11264183/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606129"^^xsd:string) AnnotationAssertion( "MESH:C536130"^^xsd:string) AnnotationAssertion( "DBA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111885"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28280134/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618312"^^xsd:string) AnnotationAssertion( "DBA19"^^xsd:string) AnnotationAssertion( "RPL35-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111886"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17186470/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:47:13Z"^^xsd:string) AnnotationAssertion( "MIM:610629"^^xsd:string) AnnotationAssertion( "MESH:C536355"^^xsd:string) AnnotationAssertion( "DBA3"^^xsd:string) AnnotationAssertion( "RPS24-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111887"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20116044/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613309"^^xsd:string) AnnotationAssertion( "MESH:C567649"^^xsd:string) AnnotationAssertion( "DBA10"^^xsd:string) AnnotationAssertion( "RPS26-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111888"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24829207/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615909"^^xsd:string) AnnotationAssertion( "DBA13"^^xsd:string) AnnotationAssertion( "RPS29-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111889"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17647292/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612527"^^xsd:string) AnnotationAssertion( "MESH:C567281"^^xsd:string) AnnotationAssertion( "DBA4"^^xsd:string) AnnotationAssertion( "RPS17-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111890"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27909223/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618313"^^xsd:string) AnnotationAssertion( "DBA20"^^xsd:string) AnnotationAssertion( "RPS15A-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111891"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22431104/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614900"^^xsd:string) AnnotationAssertion( "DBA11"^^xsd:string) AnnotationAssertion( "RPL26-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111892"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25424902/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-06T11:21:22Z"^^xsd:string) AnnotationAssertion( "MIM:617408"^^xsd:string) AnnotationAssertion( "DBA16"^^xsd:string) AnnotationAssertion( "RPL27-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111893"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 15 with mandibulofacial dysostosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24942156/"^^xsd:string) "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606164"^^xsd:string) AnnotationAssertion( "DBA15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111894"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9988267/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:105650"^^xsd:string) AnnotationAssertion( "MESH:C567302"^^xsd:string) AnnotationAssertion( "DBA1"^^xsd:string) AnnotationAssertion( "RPS19-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111895"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28280134/"^^xsd:string) "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618310"^^xsd:string) AnnotationAssertion( "DBA18"^^xsd:string) AnnotationAssertion( "RPL18-related Diamond-Blackfan anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111896"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia 14 with mandibulofacial dysostosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11424144/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24942156/"^^xsd:string) "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300946"^^xsd:string) AnnotationAssertion( "DBA14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111897"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CK syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19377476/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21129721/"^^xsd:string) "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002836"^^xsd:string) AnnotationAssertion( "MIM:300831"^^xsd:string) AnnotationAssertion( "ORDO:251383"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with thin body habitus and cortical malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111898"^^xsd:string) AnnotationAssertion(rdfs:label "CK syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked thrombophilia due to factor IX defect) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19846852/"^^xsd:string) "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300807"^^xsd:string) AnnotationAssertion( "MESH:C567581"^^xsd:string) AnnotationAssertion( "THPH8"^^xsd:string) AnnotationAssertion( "protection against deep venous thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111899"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked thrombophilia due to factor IX defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant thrombophilia due to protein S deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/6239102/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7545463/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7780139/"^^xsd:string) "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612336"^^xsd:string) AnnotationAssertion( "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY"^^xsd:string) AnnotationAssertion( "PROS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "REDUCED PROTEIN S ACTIVITY"^^xsd:string) AnnotationAssertion( "MESH:C567347"^^xsd:string) AnnotationAssertion( "THPH5"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia due to protein S deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111900"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant thrombophilia due to protein S deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heparin cofactor II deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2647747/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8562924/"^^xsd:string) "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612356"^^xsd:string) AnnotationAssertion( "THROMBOTIC STROKE"^^xsd:string) AnnotationAssertion( "MESH:C562865"^^xsd:string) AnnotationAssertion( "HCF 2 deficiency"^^xsd:string) AnnotationAssertion( "HCF2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hcf II Deficiency"^^xsd:string) AnnotationAssertion( "THPH10"^^xsd:string) AnnotationAssertion( "susceptibility to thrombophilia due to heparin cofactor II deficiency"^^xsd:string) AnnotationAssertion( "thrombophilia due to heparin cofactor II deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111901"^^xsd:string) AnnotationAssertion(rdfs:label "heparin cofactor II deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thrombophilia due to activated protein C resistance) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8164741/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8430067/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9454742/"^^xsd:string) "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566056"^^xsd:string) AnnotationAssertion( "MIM:188055"^^xsd:string) AnnotationAssertion( "MESH:D020016"^^xsd:string) AnnotationAssertion( "APC resistance"^^xsd:string) AnnotationAssertion( "Apc Resistance, Leiden Type"^^xsd:string) AnnotationAssertion( "Factor V Leiden Thrombophilia"^^xsd:string) AnnotationAssertion( "Hereditary Resistance To Activated Protein C"^^xsd:string) AnnotationAssertion( "PCCF DEFICIENCY"^^xsd:string) AnnotationAssertion( "PROC COFACTOR DEFICIENCY"^^xsd:string) AnnotationAssertion( "Protein C Cofactor Deficiency"^^xsd:string) AnnotationAssertion( "THPH2"^^xsd:string) AnnotationAssertion( "Thrombophilia due to Deficiency of Activated Protein C Cofactor"^^xsd:string) AnnotationAssertion( "activated protein C resistance"^^xsd:string) AnnotationAssertion( "thrombophilia V"^^xsd:string) AnnotationAssertion( "thrombophilia due to factor V Leiden"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111902"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia due to activated protein C resistance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thrombophilia due to HRG deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8236132/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9414276/"^^xsd:string) "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613116"^^xsd:string) AnnotationAssertion( "MESH:C567737"^^xsd:string) AnnotationAssertion( "ORDO:217467"^^xsd:string) AnnotationAssertion( "THPH11"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia due to congenital HRG deficiency"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"^^xsd:string) AnnotationAssertion( "thrombophilia due to elevated histidine-rich glycoprotein"^^xsd:string) AnnotationAssertion( "thrombophilia due to histidine-rich glycoprotein deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111903"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia due to HRG deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive thrombophilia due to protein C deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6139528/"^^xsd:string) "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612304"^^xsd:string) AnnotationAssertion( "MESH:C567353"^^xsd:string) AnnotationAssertion( "Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "PROC deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "THPH4"^^xsd:string) AnnotationAssertion( "protein C deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111904"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive thrombophilia due to protein C deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive thrombophilia due to protein S deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10063989/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20484936/"^^xsd:string) "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T13:10:28Z"^^xsd:string) AnnotationAssertion( "MIM:614514"^^xsd:string) AnnotationAssertion( "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY"^^xsd:string) AnnotationAssertion( "PROS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "reduced protein S activity"^^xsd:string) AnnotationAssertion( "MESH:C567348"^^xsd:string) AnnotationAssertion( "ORDO:743"^^xsd:string) AnnotationAssertion( "Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "THPH6"^^xsd:string) AnnotationAssertion( "autosomal recessive thrombophilia due to congenital protein S deficiency"^^xsd:string) AnnotationAssertion( "severe hereditary thrombophilia due to congenital protein S deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111905"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive thrombophilia due to protein S deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thrombophilia due to decreased release of PLAT) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12643326/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/665314/"^^xsd:string) "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612348"^^xsd:string) AnnotationAssertion( "MESH:C567341"^^xsd:string) AnnotationAssertion( "Familial Thrombophilia due to Decreased Release of Tissue Plasminogen Activator"^^xsd:string) AnnotationAssertion( "THPH9"^^xsd:string) AnnotationAssertion( "THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN"^^xsd:string) AnnotationAssertion( "familial hyperfibrinolysis due to increased release of tissue plasminogen activator"^^xsd:string) AnnotationAssertion( "ACTIVATOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111906"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia due to decreased release of PLAT"^^xsd:string) SubClassOf( ) # Class: (thrombophilia due to thrombin defect) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11570053/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22716977/"^^xsd:string) "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-11T14:11:44Z"^^xsd:string) AnnotationAssertion( "GARD:10815"^^xsd:string) AnnotationAssertion( "MIM:188050"^^xsd:string) AnnotationAssertion( "THPH1"^^xsd:string) AnnotationAssertion( "THROMBOPHILIA DUE TO FACTOR 2 DEFECT"^^xsd:string) AnnotationAssertion( "prothrombin-related thrombophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111907"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia due to thrombin defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thrombophilia due to thrombomodulin defect) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22036808/"^^xsd:string) "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T13:56:44Z"^^xsd:string) AnnotationAssertion( "MIM:614486"^^xsd:string) AnnotationAssertion( "MESH:C566057"^^xsd:string) AnnotationAssertion( "ORDO:436169"^^xsd:string) AnnotationAssertion( "THBD-related bleeding disorder"^^xsd:string) AnnotationAssertion( "THBD-related coagulopathy"^^xsd:string) AnnotationAssertion( "THPH12"^^xsd:string) AnnotationAssertion( "thrombomodulin-related bleeding disorder"^^xsd:string) AnnotationAssertion( "thrombomodulin-related coagulopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111908"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia due to thrombomodulin defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant thrombophilia due to protein C deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2437584/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6547008/"^^xsd:string) "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176860"^^xsd:string) AnnotationAssertion( "MESH:C567163"^^xsd:string) AnnotationAssertion( "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "PROC Deficiency, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "THPH3"^^xsd:string) AnnotationAssertion( "protein C deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED"^^xsd:string) AnnotationAssertion( "DOID:0111909"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant thrombophilia due to protein C deficiency"^^xsd:string) SubClassOf( ) # Class: (spermatogenic failure) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30656449/"^^xsd:string) "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2020-07-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS258150"^^xsd:string) AnnotationAssertion( "SPGF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111910"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure"^^xsd:string) SubClassOf( ) # Class: (spermatogenic failure 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30137358/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618153"^^xsd:string) AnnotationAssertion( "SPGF34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111911"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 41) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31621862/"^^xsd:string) "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618670"^^xsd:string) AnnotationAssertion( "SPGF41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111912"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28536242/"^^xsd:string) "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618110"^^xsd:string) AnnotationAssertion( "SPGF30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111913"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 35) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30683861/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618341"^^xsd:string) AnnotationAssertion( "SPGF35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111914"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30122540/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "male infertility with teratozoospermia due to single gene mutation"^^xsd:string) AnnotationAssertion( "MIM:618152"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER DUE TO SINGLE GENE MUTATION"^^xsd:string) AnnotationAssertion( "SPGF33"^^xsd:string) AnnotationAssertion( "non-syndromic male infertility due to sperm motility disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111915"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 33"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30075111/"^^xsd:string) "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T14:05:31Z"^^xsd:string) AnnotationAssertion( "MIM:618086"^^xsd:string) AnnotationAssertion( "SPGF28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111916"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 43) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31048344/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31151990/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618751"^^xsd:string) AnnotationAssertion( "SPGF43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111917"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 43"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 40) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31413122/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618664"^^xsd:string) AnnotationAssertion( "SPGF40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111918"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 40"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 38) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30686508/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION"^^xsd:string) AnnotationAssertion( "SPERM TAIL ANOMALY"^^xsd:string) AnnotationAssertion( "MIM:618433"^^xsd:string) AnnotationAssertion( "SPGF38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111919"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26199321/"^^xsd:string) "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-03-19T15:24:54Z"^^xsd:string) AnnotationAssertion( "MIM:617960"^^xsd:string) AnnotationAssertion( "SPGF25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111920"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 36) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30893644/"^^xsd:string) "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618420"^^xsd:string) AnnotationAssertion( "SPGF36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111921"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 36"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30032984/"^^xsd:string) "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618112"^^xsd:string) AnnotationAssertion( "CYBA Deficiency"^^xsd:string) AnnotationAssertion( "SPGF31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111922"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 31"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 42) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31735292/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31735294/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T14:40:00Z"^^xsd:string) AnnotationAssertion( "MIM:618745"^^xsd:string) AnnotationAssertion( "SPGF42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111923"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28905369/"^^xsd:string) "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617961"^^xsd:string) AnnotationAssertion( "MONDO:0054730"^^xsd:string) AnnotationAssertion( "SPGF26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111924"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20506135/"^^xsd:string) "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618115"^^xsd:string) AnnotationAssertion( "SPGF32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111925"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 32"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 39) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31178125/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618643"^^xsd:string) AnnotationAssertion( "SPGF39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111926"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 39"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 37) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30929735/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618429"^^xsd:string) AnnotationAssertion( "SPGF37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111927"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 37"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 27) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29365104/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-13T17:29:34Z"^^xsd:string) AnnotationAssertion( "MIM:617965"^^xsd:string) AnnotationAssertion( "SPGF27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111928"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29606301/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617959"^^xsd:string) AnnotationAssertion( "SPGF24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111929"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28554943/"^^xsd:string) "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618091"^^xsd:string) AnnotationAssertion( "SPGF29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111930"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndactyly-telecanthus-anogenital and renal malformations syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18297069/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8818947/"^^xsd:string) "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300707"^^xsd:string) AnnotationAssertion( "GARD:10295"^^xsd:string) AnnotationAssertion( "MESH:C567475"^^xsd:string) AnnotationAssertion( "ORDO:140952"^^xsd:string) AnnotationAssertion( "STAR"^^xsd:string) AnnotationAssertion( "STAR Syndrome"^^xsd:string) AnnotationAssertion( "Syndactyly with Renal and Anogenital Malformations"^^xsd:string) AnnotationAssertion( "toe syndactyly, telecanthus, and anogenital and renal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111931"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly-telecanthus-anogenital and renal malformations syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (severe congenital encephalopathy due to MECP2 mutation) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12615169/"^^xsd:string) "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300673"^^xsd:string) AnnotationAssertion( "MESH:C566878"^^xsd:string) AnnotationAssertion( "NCI:C132293"^^xsd:string) AnnotationAssertion( "ORDO:209370"^^xsd:string) AnnotationAssertion( "MECP2-related severe neonatal encephalopathy"^^xsd:string) AnnotationAssertion( "neonatal severe encephalopathy"^^xsd:string) AnnotationAssertion( "neonatal severe encephalopathy due to MECP2 mutation"^^xsd:string) AnnotationAssertion( "neonatal severe encephalopathy due to MECP2 mutations"^^xsd:string) AnnotationAssertion( "severe neonatal-onset encephalopathy with microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111932"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital encephalopathy due to MECP2 mutation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (phosphoglycerate kinase 1 deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16567715/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/4230542/"^^xsd:string) "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-05-29T11:57:07Z"^^xsd:string) AnnotationAssertion( "MIM:300653"^^xsd:string) AnnotationAssertion( "GARD:7389"^^xsd:string) AnnotationAssertion( "MESH:C567067"^^xsd:string) AnnotationAssertion( "NCI:C126738"^^xsd:string) AnnotationAssertion( "ORDO:713"^^xsd:string) AnnotationAssertion( "GSD due to phosphoglycerate kinase 1 deficiency"^^xsd:string) AnnotationAssertion( "PGK Deficiency"^^xsd:string) AnnotationAssertion( "PGK1 Deficiency"^^xsd:string) AnnotationAssertion( "PGK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PGK1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "glycogen storage disease due to phosphoglycerate kinase 1 deficiency"^^xsd:string) AnnotationAssertion( "glycogenosis due to phosphoglycerate kinase 1 deficiency"^^xsd:string) AnnotationAssertion( "phosphoglycerate kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111933"^^xsd:string) AnnotationAssertion(rdfs:label "phosphoglycerate kinase 1 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 38) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22859821/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25307056/"^^xsd:string) "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616126"^^xsd:string) AnnotationAssertion( "ORDO:319563"^^xsd:string) AnnotationAssertion( "IMD38"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive ISG15 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 38 with basal ganglia calcification"^^xsd:string) AnnotationAssertion( "immunodeficiency 38, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111934"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 38"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20156905/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23897980/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615593"^^xsd:string) AnnotationAssertion( "ORDO:431149"^^xsd:string) AnnotationAssertion( "IMD16"^^xsd:string) AnnotationAssertion( "OX40 deficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to OX40 deficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with childhood-onset Kaposi sarcoma"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with impaired immunity to HHV-8"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with impaired immunity to human herpes virus 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111935"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 14) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24165795/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615513"^^xsd:string) AnnotationAssertion( "MIM:619281"^^xsd:string) AnnotationAssertion( "GARD:11983"^^xsd:string) AnnotationAssertion( "MESH:C585640"^^xsd:string) AnnotationAssertion( "NCI:C187988"^^xsd:string) AnnotationAssertion( "ORDO:397596"^^xsd:string) AnnotationAssertion( "APD Syndrome"^^xsd:string) AnnotationAssertion( "APDS"^^xsd:string) AnnotationAssertion( "APDS (Activated PI3K-delta Syndrome)"^^xsd:string) AnnotationAssertion( "IMD14"^^xsd:string) AnnotationAssertion( "PASLI"^^xsd:string) AnnotationAssertion( "PASLI disease"^^xsd:string) AnnotationAssertion( "activated PI3K-delta syndrome"^^xsd:string) AnnotationAssertion( "p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency"^^xsd:string) AnnotationAssertion( "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"^^xsd:string) AnnotationAssertion( "IMD14A"^^xsd:string) AnnotationAssertion( "IMD14B"^^xsd:string) AnnotationAssertion( "autosomal dominant immunodeficiency 14A"^^xsd:string) AnnotationAssertion( "autosomal dominant immunodeficiency-14A with lymphoproliferation"^^xsd:string) AnnotationAssertion( "autosomal recessive immunodeficiency 14B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111936"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9664084/"^^xsd:string) "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615758"^^xsd:string) AnnotationAssertion( "MONDO:0014334"^^xsd:string) AnnotationAssertion( "NCI:C176808"^^xsd:string) AnnotationAssertion( "ORDO:280142"^^xsd:string) AnnotationAssertion( "IMD22"^^xsd:string) AnnotationAssertion( "SCID due to LCK deficiency"^^xsd:string) AnnotationAssertion( "SCID due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to LCK deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111937"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24870241/"^^xsd:string) "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615897"^^xsd:string) AnnotationAssertion( "ORDO:420573"^^xsd:string) AnnotationAssertion( "IMD24"^^xsd:string) AnnotationAssertion( "SCID due to CTPS1 deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to CTPS1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111938"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 37) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25365219/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616098"^^xsd:string) AnnotationAssertion( "IMD37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111939"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 37"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 42) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26160376/"^^xsd:string) "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616622"^^xsd:string) AnnotationAssertion( "ORDO:477857"^^xsd:string) AnnotationAssertion( "IMD42"^^xsd:string) AnnotationAssertion( "autosomal recessive MSMD due to complete RORgamma receptor defiency"^^xsd:string) AnnotationAssertion( "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive primary immunodeficiency due to RORC mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111940"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23006327/"^^xsd:string) "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615707"^^xsd:string) AnnotationAssertion( "ORDO:437552"^^xsd:string) AnnotationAssertion( "CD16 deficiency"^^xsd:string) AnnotationAssertion( "IMD20"^^xsd:string) AnnotationAssertion( "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity"^^xsd:string) AnnotationAssertion( "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111941"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16672702/"^^xsd:string) "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610163"^^xsd:string) AnnotationAssertion( "MESH:C565712"^^xsd:string) AnnotationAssertion( "IMD25"^^xsd:string) AnnotationAssertion( "immunodeficiency due to defect in CD3-zeta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111942"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 48) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2511270/"^^xsd:string) "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-27T08:16:15Z"^^xsd:string) AnnotationAssertion( "MIM:269840"^^xsd:string) AnnotationAssertion( "GARD:387"^^xsd:string) AnnotationAssertion( "MESH:C536722"^^xsd:string) AnnotationAssertion( "ORDO:911"^^xsd:string) AnnotationAssertion( "IMD48"^^xsd:string) AnnotationAssertion( "STCD"^^xsd:string) AnnotationAssertion( "ZAP70-related SCID"^^xsd:string) AnnotationAssertion( "ZAP70-related severe combined immunodeficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to ZAP70 deficiency"^^xsd:string) AnnotationAssertion( "selective T-cell defect"^^xsd:string) AnnotationAssertion( "zeta-associated-protein 70 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111943"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 48"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 31B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12590259/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613796"^^xsd:string) AnnotationAssertion( "ORDO:391311"^^xsd:string) AnnotationAssertion( "IMD31B"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "STAT1 deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "predisposition to severe viral infection due to STAT1 deficiency"^^xsd:string) AnnotationAssertion( "susceptibility to viral and mycobacterial infections due to STAT1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "DOID:0111944"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 31B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 31A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11452125/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614892"^^xsd:string) AnnotationAssertion( "ORDO:319595"^^xsd:string) AnnotationAssertion( "IMD31A"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MSMD due to partial STAT1 deficiency"^^xsd:string) AnnotationAssertion( "MSMD due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"^^xsd:string) AnnotationAssertion( "STAT1 deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111945"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 31A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 31C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21714643/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23534974/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23541320/"^^xsd:string) "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "familial chronic mucocutaneous candidiasis, autosomal dominant"^^xsd:string) AnnotationAssertion( "MIM:614162"^^xsd:string) AnnotationAssertion( "NCI:C172099"^^xsd:string) AnnotationAssertion( "ORDO:391487"^^xsd:string) AnnotationAssertion( "CANDF7"^^xsd:string) AnnotationAssertion( "IMD31C"^^xsd:string) AnnotationAssertion( "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant immunodeficiency 31C"^^xsd:string) AnnotationAssertion( "familial candidiasis 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111946"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 31C"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21242295/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21670465/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24227816/"^^xsd:string) "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614172"^^xsd:string) AnnotationAssertion( "GARD:10934"^^xsd:string) AnnotationAssertion( "MESH:D000077428"^^xsd:string) AnnotationAssertion( "NCI:C126349"^^xsd:string) AnnotationAssertion( "ORDO:228423"^^xsd:string) AnnotationAssertion( "COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS"^^xsd:string) AnnotationAssertion( "DCML"^^xsd:string) AnnotationAssertion( "DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY"^^xsd:string) AnnotationAssertion( "GATA2 deficiency"^^xsd:string) AnnotationAssertion( "IMD21"^^xsd:string) AnnotationAssertion( "MONOMAC"^^xsd:string) AnnotationAssertion( "dendritic cell, monocyte, B and NK lymphoid deficiency"^^xsd:string) AnnotationAssertion( "monocyte-B-natural killer-dendritic cell deficiency syndrome"^^xsd:string) AnnotationAssertion( "monocytopenia and mycobacterial infection syndrome"^^xsd:string) AnnotationAssertion( "monocytopenia with susceptibility to infections"^^xsd:string) AnnotationAssertion( "monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia"^^xsd:string) AnnotationAssertion( "monomac monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111947"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26642240/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616740"^^xsd:string) AnnotationAssertion( "ORDO:476113"^^xsd:string) AnnotationAssertion( "CID due to TFRC deficiency"^^xsd:string) AnnotationAssertion( "IMD46"^^xsd:string) AnnotationAssertion( "TFRC-related combined immunodeficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to TFRC deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111948"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 46"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 36) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27221134/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T14:46:50Z"^^xsd:string) AnnotationAssertion( "MIM:616005"^^xsd:string) AnnotationAssertion( "NCI:C176703"^^xsd:string) AnnotationAssertion( "IMD36"^^xsd:string) AnnotationAssertion( "activated phosphoinositide 3-kinase delta syndrome 2"^^xsd:string) AnnotationAssertion( "immunodeficiency-36 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111949"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 36"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9854038/"^^xsd:string) "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614890"^^xsd:string) AnnotationAssertion( "ORDO:319558"^^xsd:string) AnnotationAssertion( "IL12B deficiency"^^xsd:string) AnnotationAssertion( "IMD29"^^xsd:string) AnnotationAssertion( "MSMD due to complete IL12B deficiency"^^xsd:string) AnnotationAssertion( "MSMD due to complete interleukin 12B deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 29, mycobacteriosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111950"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 40) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26083206/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12653"^^xsd:string) AnnotationAssertion( "MIM:616433"^^xsd:string) AnnotationAssertion( "NCI:C176799"^^xsd:string) AnnotationAssertion( "ORDO:447737"^^xsd:string) AnnotationAssertion( "DOCK2 deficiency"^^xsd:string) AnnotationAssertion( "IMD40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111951"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 40"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 57) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30026316/"^^xsd:string) "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "RIPK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618108"^^xsd:string) AnnotationAssertion( "ORDO:529977"^^xsd:string) AnnotationAssertion( "IMD57"^^xsd:string) AnnotationAssertion( "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"^^xsd:string) AnnotationAssertion( "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"^^xsd:string) AnnotationAssertion( "immunodeficiency 57 with autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111952"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 57"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14981714/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24589341/"^^xsd:string) "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-17T13:59:10Z"^^xsd:string) AnnotationAssertion( "GARD:4331"^^xsd:string) AnnotationAssertion( "MIM:615816"^^xsd:string) AnnotationAssertion( "NCI:C126339"^^xsd:string) AnnotationAssertion( "ORDO:443811"^^xsd:string) AnnotationAssertion( "CID due to PGM3 deficiency"^^xsd:string) AnnotationAssertion( "IMD23"^^xsd:string) AnnotationAssertion( "IVMS"^^xsd:string) AnnotationAssertion( "Immunodeficiency-Vasculitis-Myoclonus Syndrome"^^xsd:string) AnnotationAssertion( "PGM3-CDG"^^xsd:string) AnnotationAssertion( "PGM3-related congenital disorder of glycosylation"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to PGM3 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency with hyper IgE and cognitive impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111953"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 60) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28530713/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618394"^^xsd:string) AnnotationAssertion( "BRIDA"^^xsd:string) AnnotationAssertion( "IMD60"^^xsd:string) AnnotationAssertion( "immunodeficiency 60 and autoimmunity"^^xsd:string) AnnotationAssertion( "immunodeficiency and autoimmunity, BACH2-related"^^xsd:string) AnnotationAssertion( "BACH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111954"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 60"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 27A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8960473/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8960475/"^^xsd:string) "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:209950"^^xsd:string) AnnotationAssertion( "ORDO:319569"^^xsd:string) AnnotationAssertion( "IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "IMD27A"^^xsd:string) AnnotationAssertion( "autosomal recessive MSMD due to partial IFNgammaR1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 27A, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111955"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 27A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 27B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10192386/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615978"^^xsd:string) AnnotationAssertion( "ORDO:319581"^^xsd:string) AnnotationAssertion( "IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "IMD27B"^^xsd:string) AnnotationAssertion( "autosomal dominant MSMD due to partial IFNgammaR1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"^^xsd:string) AnnotationAssertion( "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 27B, mycobacteriosis, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111956"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 27B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 11A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23374270/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23561803/"^^xsd:string) "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615206"^^xsd:string) AnnotationAssertion( "ORDO:357237"^^xsd:string) AnnotationAssertion( "CARD11 Immunodeficiency"^^xsd:string) AnnotationAssertion( "CARD11 deficiency"^^xsd:string) AnnotationAssertion( "IMD11"^^xsd:string) AnnotationAssertion( "IMD11A"^^xsd:string) AnnotationAssertion( "SCID due to CARD11 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 11"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to CARD11 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111957"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 11A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 11B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28628108/"^^xsd:string) "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617638"^^xsd:string) AnnotationAssertion( "NCI:C176630"^^xsd:string) AnnotationAssertion( "IMD11B"^^xsd:string) AnnotationAssertion( "atopic dermatitis, elevated IgE, and eosinophilia"^^xsd:string) AnnotationAssertion( "immunodeficiency 11B with atopic dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111958"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 11B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 15B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24369075/"^^xsd:string) "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615592"^^xsd:string) AnnotationAssertion( "IMD15B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111959"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 15B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 15A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30337470/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618204"^^xsd:string) AnnotationAssertion( "IMD15A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111960"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 15A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19075392/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23722905/"^^xsd:string) "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615966"^^xsd:string) AnnotationAssertion( "NCI:C176795"^^xsd:string) AnnotationAssertion( "ORDO:317425"^^xsd:string) AnnotationAssertion( "IMD26"^^xsd:string) AnnotationAssertion( "SCID due to DNA-PKcs deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 26 with or without neurologic abnormalities"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to DNA-PKcs deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 26 without neurologic abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111961"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 26"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined immunodeficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32048120/"^^xsd:string) "A primary immunodeficiency disease that involves multiple components of the immune system. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MAN2B2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111962"^^xsd:string) AnnotationAssertion(rdfs:label "combined immunodeficiency"^^xsd:string) SubClassOf( ) # Class: (dendritic cell deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string) "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111963"^^xsd:string) AnnotationAssertion(rdfs:label "dendritic cell deficiency"^^xsd:string) SubClassOf( ) # Class: (B cell and dendritic cell deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string) "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111964"^^xsd:string) AnnotationAssertion(rdfs:label "B cell and dendritic cell deficiency"^^xsd:string) SubClassOf( ) # Class: (T cell, B cell, and NK cell deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string) "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111965"^^xsd:string) AnnotationAssertion(rdfs:label "T cell, B cell, and NK cell deficiency"^^xsd:string) SubClassOf( ) # Class: (monocyte, dendritic cell, and NK cell deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK27092/"^^xsd:string) "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111966"^^xsd:string) AnnotationAssertion(rdfs:label "monocyte, dendritic cell, and NK cell deficiency"^^xsd:string) SubClassOf( ) # Class: (immunodeficiency 54) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16532402/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22354167/"^^xsd:string) "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C566492"^^xsd:string) AnnotationAssertion( "MIM:609981"^^xsd:string) AnnotationAssertion( "NCI:C123729"^^xsd:string) AnnotationAssertion( "ORDO:75391"^^xsd:string) AnnotationAssertion( "IMD54"^^xsd:string) AnnotationAssertion( "MCM4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NKCD"^^xsd:string) AnnotationAssertion( "NKGCD"^^xsd:string) AnnotationAssertion( "Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect"^^xsd:string) AnnotationAssertion( "familial isolated natural killer cell deficiency"^^xsd:string) AnnotationAssertion( "primary immunodeficiency due to MCM4 deficiency"^^xsd:string) AnnotationAssertion( "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111967"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 54"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 41) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23416241/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9096364/"^^xsd:string) "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:606367"^^xsd:string) AnnotationAssertion( "MESH:C565232"^^xsd:string) AnnotationAssertion( "ORDO:169100"^^xsd:string) AnnotationAssertion( "CD25 Deficiency"^^xsd:string) AnnotationAssertion( "IL2RA Deficiency"^^xsd:string) AnnotationAssertion( "IMD41"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY"^^xsd:string) AnnotationAssertion( "deficiency of interleukin 2 receptor, alpha"^^xsd:string) AnnotationAssertion( "immunodeficiency due to CD25 deficiency"^^xsd:string) AnnotationAssertion( "interleukin-2 receptor alpha chain deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111968"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 39) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25814066/"^^xsd:string) "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616345"^^xsd:string) AnnotationAssertion( "MONDO:0014597"^^xsd:string) AnnotationAssertion( "IMD39"^^xsd:string) AnnotationAssertion( "IRF7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111969"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 39"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26560041/"^^xsd:string) "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612783"^^xsd:string) AnnotationAssertion( "MESH:C557827"^^xsd:string) AnnotationAssertion( "ORDO:317430"^^xsd:string) AnnotationAssertion( "CID due to STIM1 deficiency"^^xsd:string) AnnotationAssertion( "IMD10"^^xsd:string) AnnotationAssertion( "Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2"^^xsd:string) AnnotationAssertion( "STIM1 deficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to STIM1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111970"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15546002/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8490660/"^^xsd:string) "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615615"^^xsd:string) AnnotationAssertion( "MESH:C566082"^^xsd:string) AnnotationAssertion( "CD3-epsilon deficiency"^^xsd:string) AnnotationAssertion( "IMD18"^^xsd:string) AnnotationAssertion( "immunodeficiency due to defect in CD3-Epsilon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "immunodeficiency 18, SCID variant"^^xsd:string) AnnotationAssertion( "immunodeficiency 18, severe combined"^^xsd:string) AnnotationAssertion( "immunodeficiency variant"^^xsd:string) AnnotationAssertion( "DOID:0111971"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14602880/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21883749/"^^xsd:string) "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615617"^^xsd:string) AnnotationAssertion( "CD3-DELTA DEFICIENCY"^^xsd:string) AnnotationAssertion( "IMD19"^^xsd:string) AnnotationAssertion( "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111972"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1635567/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17277165/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8325321/"^^xsd:string) "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615607"^^xsd:string) AnnotationAssertion( "MESH:C566083"^^xsd:string) AnnotationAssertion( "CD3 Gamma Deficient"^^xsd:string) AnnotationAssertion( "CD3-Gamma Deficiency"^^xsd:string) AnnotationAssertion( "IMD17"^^xsd:string) AnnotationAssertion( "Immunodeficiency due to Defect in CD3-Gamma"^^xsd:string) AnnotationAssertion( "SCID-like immunodeficiency, T-cell-partial, B-cell-positive, NK-cell-positive"^^xsd:string) AnnotationAssertion( "immunodeficiency 17, CD3 gamma deficient"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111973"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 59) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27913302/"^^xsd:string) "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:233600"^^xsd:string) AnnotationAssertion( "MESH:C565535"^^xsd:string) AnnotationAssertion( "HYOU1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD59"^^xsd:string) AnnotationAssertion( "granulocytopenia with immunoglobin abnormality"^^xsd:string) AnnotationAssertion( "granulocytopenia with immunoglobulin abnormality"^^xsd:string) AnnotationAssertion( "immunodeficiency 59 and hypoglycemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111974"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 59"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23391734/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26122121/"^^xsd:string) "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616636"^^xsd:string) AnnotationAssertion( "IMD44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111975"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16582901/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20004786/"^^xsd:string) "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:612782"^^xsd:string) AnnotationAssertion( "ORAI1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C557826"^^xsd:string) AnnotationAssertion( "ORDO:317428"^^xsd:string) AnnotationAssertion( "CID due to ORAI1 deficiency"^^xsd:string) AnnotationAssertion( "IMD9"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to ORAI1 deficiency"^^xsd:string) AnnotationAssertion( "immune dysfunction with T-cell inactivation due to calcium entry defect 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111976"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 9"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21206088/"^^xsd:string) "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615387"^^xsd:string) AnnotationAssertion( "ORDO:397959"^^xsd:string) AnnotationAssertion( "IMD7"^^xsd:string) AnnotationAssertion( "T-Cell Receptor-Alpha/Beta Deficiency"^^xsd:string) AnnotationAssertion( "TCR-alpha-beta-positive T-cell deficiency"^^xsd:string) AnnotationAssertion( "TCR-alpha/beta deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 7, TCR-alpha/beta deficient"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111977"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 65) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30143481/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30826365/"^^xsd:string) "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T08:37:01Z"^^xsd:string) AnnotationAssertion( "MIM:618648"^^xsd:string) AnnotationAssertion( "IMD65"^^xsd:string) AnnotationAssertion( "immunodeficiency 65, susceptibility to viral infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111978"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 65"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 49) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27959755/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29985992/"^^xsd:string) "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "BCL11B-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "MIM:617237"^^xsd:string) AnnotationAssertion( "IMD49"^^xsd:string) AnnotationAssertion( "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111979"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 49"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 64) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27776107/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29155103/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29282224/"^^xsd:string) "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618534"^^xsd:string) AnnotationAssertion( "IMD64"^^xsd:string) AnnotationAssertion( "immunodeficiency-64 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111980"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 64"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 43) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16549777/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25702838/"^^xsd:string) "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:241600"^^xsd:string) AnnotationAssertion( "MESH:C565476"^^xsd:string) AnnotationAssertion( "B2M deficiency"^^xsd:string) AnnotationAssertion( "BETA-2-MICROGLOBULIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "IMD43"^^xsd:string) AnnotationAssertion( "hypercatabolic hypoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111981"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 43"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 56) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23440042/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615207"^^xsd:string) AnnotationAssertion( "ORDO:357329"^^xsd:string) AnnotationAssertion( "IL21R immunodeficiency"^^xsd:string) AnnotationAssertion( "IMD56"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to IL21R deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111982"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 56"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 52) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27242165/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27522155/"^^xsd:string) "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617514"^^xsd:string) AnnotationAssertion( "ORDO:504523"^^xsd:string) AnnotationAssertion( "IMD52"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to LAT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111983"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 52"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 58) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27647349/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29479355/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618131"^^xsd:string) AnnotationAssertion( "ORDO:542301"^^xsd:string) AnnotationAssertion( "CARMIL2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD58"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to CARMIL2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111984"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 58"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 32B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27893462/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6279813/"^^xsd:string) "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:226990"^^xsd:string) AnnotationAssertion( "IMD32B"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "monocyte and dendritic cell deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111985"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 32B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 32A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21524210/"^^xsd:string) "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614893"^^xsd:string) AnnotationAssertion( "MONDO:0013957"^^xsd:string) AnnotationAssertion( "ORDO:319600"^^xsd:string) AnnotationAssertion( "CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "IMD32A"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "IRF8 deficiency, autosomal dominant"^^xsd:string) AnnotationAssertion( "MSMD due to partial IRF8 deficiency"^^xsd:string) AnnotationAssertion( "MSMD due to partial interferon regulatory factor 8 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111986"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 32A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22184408/"^^xsd:string) "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "UNC119-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:12375"^^xsd:string) AnnotationAssertion( "MIM:615518"^^xsd:string) AnnotationAssertion( "ORDO:228000"^^xsd:string) AnnotationAssertion( "IMD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111987"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23727036/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24332264/"^^xsd:string) "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615468"^^xsd:string) AnnotationAssertion( "ORDO:397964"^^xsd:string) AnnotationAssertion( "IMD12"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to MALT1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111988"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 35) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26304966/"^^xsd:string) "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:611521"^^xsd:string) AnnotationAssertion( "MESH:C566928"^^xsd:string) AnnotationAssertion( "ORDO:331226"^^xsd:string) AnnotationAssertion( "Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "IMD35"^^xsd:string) AnnotationAssertion( "TYK2 Deficiency"^^xsd:string) AnnotationAssertion( "autosomal recessiv HIES with atypical mycobacteriosis"^^xsd:string) AnnotationAssertion( "autosomal recessive HIES with atypical mycobacteriosis"^^xsd:string) AnnotationAssertion( "susceptibility to infection due to TYK2 deficiency"^^xsd:string) AnnotationAssertion( "tyrosine kinase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111989"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 35"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9603732/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9603733/"^^xsd:string) "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614891"^^xsd:string) AnnotationAssertion( "NCI:C176800"^^xsd:string) AnnotationAssertion( "ORDO:319552"^^xsd:string) AnnotationAssertion( "IL12RB1 Deficiency"^^xsd:string) AnnotationAssertion( "IMD30"^^xsd:string) AnnotationAssertion( "MSMD due to complete IL12RB1 deficiency"^^xsd:string) AnnotationAssertion( "MSMD due to complete interleukin 12 receptor beta 1 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111990"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 62) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30521495/"^^xsd:string) "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618459"^^xsd:string) AnnotationAssertion( "IMD62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111991"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 62"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 53) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26385063/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617585"^^xsd:string) AnnotationAssertion( "IMD53"^^xsd:string) AnnotationAssertion( "RELB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111992"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 55) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28414293/"^^xsd:string) "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617827"^^xsd:string) AnnotationAssertion( "ORDO:505227"^^xsd:string) AnnotationAssertion( "IMD55"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to GINS1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111993"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 55"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26424569/"^^xsd:string) "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616669"^^xsd:string) AnnotationAssertion( "IMD45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111994"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11335769/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19084105/"^^xsd:string) "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614889"^^xsd:string) AnnotationAssertion( "ORDO:319547"^^xsd:string) AnnotationAssertion( "IFNGR2 deficiency"^^xsd:string) AnnotationAssertion( "IMD28"^^xsd:string) AnnotationAssertion( "MSMD due to complete IFNgammaR2 deficiency"^^xsd:string) AnnotationAssertion( "MSMD due to complete interferon gamma receptor 2 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"^^xsd:string) AnnotationAssertion( "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 28, mycobacteriosis"^^xsd:string) AnnotationAssertion( "immunodeficiency 28, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111995"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 51) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27930337/"^^xsd:string) "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613953"^^xsd:string) AnnotationAssertion( "CANDF5"^^xsd:string) AnnotationAssertion( "IMD51"^^xsd:string) AnnotationAssertion( "familial candidiasis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111996"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 51"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 63) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31040184/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31040185/"^^xsd:string) "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618495"^^xsd:string) AnnotationAssertion( "CD122 deficiency"^^xsd:string) AnnotationAssertion( "IL2RB deficiency"^^xsd:string) AnnotationAssertion( "IL2RB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD63"^^xsd:string) AnnotationAssertion( "Immunodeficiency 63 with Lymphoproliferation and Autoimmunity"^^xsd:string) AnnotationAssertion( "interleukin 2 receptor, beta, deficiency of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111997"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 63"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 66) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26224645/"^^xsd:string) "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618847"^^xsd:string) AnnotationAssertion( "IMD66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111998"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 66"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 61) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29636373/"^^xsd:string) "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-17T11:33:21Z"^^xsd:string) AnnotationAssertion( "MIM:300310"^^xsd:string) AnnotationAssertion( "MESH:C538057"^^xsd:string) AnnotationAssertion( "AGMX2"^^xsd:string) AnnotationAssertion( "IMD61"^^xsd:string) AnnotationAssertion( "X-linked agammaglobulinemia type 2"^^xsd:string) AnnotationAssertion( "XLA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0111999"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 61"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17293536/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21278736/"^^xsd:string) "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300645"^^xsd:string) AnnotationAssertion( "MESH:C567068"^^xsd:string) AnnotationAssertion( "AMCBX2"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Disseminated, X-Linked 2"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2"^^xsd:string) AnnotationAssertion( "IMD34"^^xsd:string) AnnotationAssertion( "X-linked MSMD due to CYBB deficiency"^^xsd:string) AnnotationAssertion( "X-linked familial atypical mycobacteriosis 2"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency 34, mycobacteriosis"^^xsd:string) AnnotationAssertion( "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112000"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 34"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27405666/"^^xsd:string) "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300988"^^xsd:string) AnnotationAssertion( "ORDO:504530"^^xsd:string) AnnotationAssertion( "CID due to Moesin deficiency"^^xsd:string) AnnotationAssertion( "IMD50"^^xsd:string) AnnotationAssertion( "MSN-related combined immunodeficiency"^^xsd:string) AnnotationAssertion( "X-linked Moesin-associated immunodeficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to Moesin deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 50, X-linked recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112001"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 50"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27231034/"^^xsd:string) "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T15:00:22Z"^^xsd:string) AnnotationAssertion( "MIM:300972"^^xsd:string) AnnotationAssertion( "CDG IIs"^^xsd:string) AnnotationAssertion( "CDG2S"^^xsd:string) AnnotationAssertion( "CDGIIs"^^xsd:string) AnnotationAssertion( "IMD47"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type IIs"^^xsd:string) AnnotationAssertion( "immunodeficiency and hepatopathy with or without neurologic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112002"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 47"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15356572/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31965418/"^^xsd:string) "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C536289"^^xsd:string) AnnotationAssertion( "MESH:C564468"^^xsd:string) AnnotationAssertion( "MESH:C567070"^^xsd:string) AnnotationAssertion( "MIM:300636"^^xsd:string) AnnotationAssertion( "AMCBX1"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Disseminated, X-Linked 1"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1"^^xsd:string) AnnotationAssertion( "Atypical Mycobacteriosis, Familial, X-Linked 1"^^xsd:string) AnnotationAssertion( "IMD33"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED"^^xsd:string) AnnotationAssertion( "IPD2"^^xsd:string) AnnotationAssertion( "Immunodeficiency without Anhidrotic Ectodermal Dysplasia"^^xsd:string) AnnotationAssertion( "X-linked MSMD due to IKBKG deficiency"^^xsd:string) AnnotationAssertion( "X-linked MSMD due to NEMO deficiency"^^xsd:string) AnnotationAssertion( "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"^^xsd:string) AnnotationAssertion( "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency"^^xsd:string) AnnotationAssertion( "X-linked mycobacterial disease, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "isolated immunodeficiency"^^xsd:string) AnnotationAssertion( "pure immunodeficiency"^^xsd:string) AnnotationAssertion( "recurrent isolated invasive pneumococcal disease 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112003"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 33"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 71) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30254128/"^^xsd:string) "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617718"^^xsd:string) AnnotationAssertion( "MONDO:0060583"^^xsd:string) AnnotationAssertion( "ARPC1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD71"^^xsd:string) AnnotationAssertion( "PLTEID"^^xsd:string) AnnotationAssertion( "immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia"^^xsd:string) AnnotationAssertion( "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112004"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 71"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 70) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32499645/"^^xsd:string) "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618969"^^xsd:string) AnnotationAssertion( "IMD70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112005"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 70"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 69) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32163377/"^^xsd:string) "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618963"^^xsd:string) AnnotationAssertion( "IFNG deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "IMD69"^^xsd:string) AnnotationAssertion( "immunodeficiency 69, mycobacteriosis"^^xsd:string) AnnotationAssertion( "immunodeficiency 69, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112006"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 69"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (growth hormone secreting pituitary adenoma 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25470569/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25806920/"^^xsd:string) "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300943"^^xsd:string) AnnotationAssertion( "ACROMEGALY DUE TO PITUITARY ADENOMA 2"^^xsd:string) AnnotationAssertion( "GH-secreting pituitary adenoma 2"^^xsd:string) AnnotationAssertion( "PAGH2"^^xsd:string) AnnotationAssertion( "PITA2"^^xsd:string) AnnotationAssertion( "X-linked acromegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112007"^^xsd:string) AnnotationAssertion(rdfs:label "growth hormone secreting pituitary adenoma 2"^^xsd:string) SubClassOf( ) # Class: (pituitary adenoma 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28413019/"^^xsd:string) "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617540"^^xsd:string) AnnotationAssertion( "PITA5"^^xsd:string) AnnotationAssertion( "pituitary adenoma 5, multiple types"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112008"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary adenoma 5"^^xsd:string) SubClassOf( ) # Class: (pituitary adenoma 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16728643/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17360484/"^^xsd:string) "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:102200"^^xsd:string) AnnotationAssertion( "PITA1"^^xsd:string) AnnotationAssertion( "pituitary adenoma 1, multiple types"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PITUITARY ADENOMA PREDISPOSITION"^^xsd:string) AnnotationAssertion( "DOID:0112009"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary adenoma 1"^^xsd:string) SubClassOf( ) # Class: (pituitary adenoma 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28766057/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9589663/"^^xsd:string) "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617686"^^xsd:string) AnnotationAssertion( "MONDO:0054665"^^xsd:string) AnnotationAssertion( "PITA3"^^xsd:string) AnnotationAssertion( "pituitary adenoma 3, multiple types"^^xsd:string) AnnotationAssertion( "pituitary adenoma 3, multiple types, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112010"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary adenoma 3"^^xsd:string) SubClassOf( ) # Class: (mutilating palmoplantar keratoderma with periorificial keratotic plaques) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16227106/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17367233/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22405088/"^^xsd:string) "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:4075"^^xsd:string) AnnotationAssertion( "MIM:PS614594"^^xsd:string) AnnotationAssertion( "ORDO:659"^^xsd:string) AnnotationAssertion( "OLMS"^^xsd:string) AnnotationAssertion( "Olmsted syndrome"^^xsd:string) AnnotationAssertion( "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques"^^xsd:string) AnnotationAssertion( "palmoplantar and periorificial keratoderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112011"^^xsd:string) AnnotationAssertion(rdfs:label "mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string) SubClassOf( ) # Class: (X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17367233/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24313295/"^^xsd:string) "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300918"^^xsd:string) AnnotationAssertion( "OLMSX"^^xsd:string) AnnotationAssertion( "PPKMX"^^xsd:string) AnnotationAssertion( "X-linked Olmsted syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112012"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22405088/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24452206/"^^xsd:string) "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614594"^^xsd:string) AnnotationAssertion( "OLMS1"^^xsd:string) AnnotationAssertion( "Olmsted syndrome 1"^^xsd:string) AnnotationAssertion( "PPKM1"^^xsd:string) AnnotationAssertion( "autosomal dominant Olmsted syndrome"^^xsd:string) AnnotationAssertion( "mutilating palmoplantar keratoderma with periorificial keratotic plaques 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112013"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital megabladder) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31513549/"^^xsd:string) "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010655"^^xsd:string) AnnotationAssertion( "MIM:618719"^^xsd:string) AnnotationAssertion( "MGBL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112014"^^xsd:string) AnnotationAssertion(rdfs:label "congenital megabladder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 72) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32647003/"^^xsd:string) "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T09:05:18Z"^^xsd:string) AnnotationAssertion( "MIM:618982"^^xsd:string) AnnotationAssertion( "IMD72"^^xsd:string) AnnotationAssertion( "immunodeficiency 72 with autoinflammation"^^xsd:string) AnnotationAssertion( "immunodeficiency 72 with autoinflammation and lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112015"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 72"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2602357/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6839531/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300428"^^xsd:string) AnnotationAssertion( "MESH:C563135"^^xsd:string) AnnotationAssertion( "MRX2"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 2"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 2"^^xsd:string) AnnotationAssertion( "XLID2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112016"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 73) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11477616/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300355"^^xsd:string) AnnotationAssertion( "MESH:C564528"^^xsd:string) AnnotationAssertion( "MRX73"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 73"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 73"^^xsd:string) AnnotationAssertion( "XLID73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112017"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 73"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 104) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-10T17:47:59Z"^^xsd:string) AnnotationAssertion( "MIM:300983"^^xsd:string) AnnotationAssertion( "FRMPD4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRX104"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 104"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 104"^^xsd:string) AnnotationAssertion( "XLID104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112018"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 104"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17100996/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300844"^^xsd:string) AnnotationAssertion( "MESH:C563141"^^xsd:string) AnnotationAssertion( "MRX19"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 19"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 19"^^xsd:string) AnnotationAssertion( "XLID19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112019"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 103) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24817631/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300982"^^xsd:string) AnnotationAssertion( "MRX103"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 103"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 103"^^xsd:string) AnnotationAssertion( "XLID103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112020"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 103"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability ARX-related) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17480217/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C564502"^^xsd:string) AnnotationAssertion( "MIM:300419"^^xsd:string) AnnotationAssertion( "GARD:5614"^^xsd:string) AnnotationAssertion( "MESH:C563150"^^xsd:string) AnnotationAssertion( "ARX-related intellectual disability"^^xsd:string) AnnotationAssertion( "MRX29"^^xsd:string) AnnotationAssertion( "MRX32"^^xsd:string) AnnotationAssertion( "MRX33"^^xsd:string) AnnotationAssertion( "MRX38"^^xsd:string) AnnotationAssertion( "MRX43"^^xsd:string) AnnotationAssertion( "MRX52"^^xsd:string) AnnotationAssertion( "MRX54"^^xsd:string) AnnotationAssertion( "MRX76"^^xsd:string) AnnotationAssertion( "MRX87"^^xsd:string) AnnotationAssertion( "MRXARX"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 29"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 29"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 29 and others"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 32"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 33"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 38"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 43"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 52"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 54"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 76"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 87"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with or without seizures, ARX-related"^^xsd:string) AnnotationAssertion( "XLID29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112021"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability ARX-related"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18801879/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300143"^^xsd:string) AnnotationAssertion( "IL1RAPL1-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C563148"^^xsd:string) AnnotationAssertion( "NCI:C179707"^^xsd:string) AnnotationAssertion( "IL1RAPL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MRX21"^^xsd:string) AnnotationAssertion( "MRX34"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 21"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 21"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 21/34"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 34"^^xsd:string) AnnotationAssertion( "XLID21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112022"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7573127/"^^xsd:string) "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300047"^^xsd:string) AnnotationAssertion( "MESH:C563142"^^xsd:string) AnnotationAssertion( "MONDO:0010231"^^xsd:string) AnnotationAssertion( "MRX20"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 20"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 20"^^xsd:string) AnnotationAssertion( "XLID20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112023"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 20"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 58) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10449641/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12070254/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300210"^^xsd:string) AnnotationAssertion( "MESH:C564566"^^xsd:string) AnnotationAssertion( "MRX58"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 58"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 58"^^xsd:string) AnnotationAssertion( "XLID58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112024"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 58"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female-restricted syndromic X-linked intellectual disability 99) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26833328/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-12T12:06:46Z"^^xsd:string) AnnotationAssertion( "USP9X RELATED DISORDER"^^xsd:string) AnnotationAssertion( "USP9X-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USP9X-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "GARD:13638"^^xsd:string) AnnotationAssertion( "MIM:300968"^^xsd:string) AnnotationAssertion( "MRXS99F"^^xsd:string) AnnotationAssertion( "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 99, female-restricted"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 99, female-restricted"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112025"^^xsd:string) AnnotationAssertion(rdfs:label "female-restricted syndromic X-linked intellectual disability 99"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 99) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24607389/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "USP9X RELATED DISORDER"^^xsd:string) AnnotationAssertion( "USP9X-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USP9X-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:300919"^^xsd:string) AnnotationAssertion( "MRX99"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 99"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 99"^^xsd:string) AnnotationAssertion( "XLID99"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112026"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 99"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8026106/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T09:42:48Z"^^xsd:string) AnnotationAssertion( "MIM:300062"^^xsd:string) AnnotationAssertion( "GARD:8557"^^xsd:string) AnnotationAssertion( "MESH:C537454"^^xsd:string) AnnotationAssertion( "MRX14"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 14"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 14"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, nonspecific, type 14"^^xsd:string) AnnotationAssertion( "XLID14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112027"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 14"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300498"^^xsd:string) AnnotationAssertion( "MESH:C564503"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED 45"^^xsd:string) AnnotationAssertion( "MRX45"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 45"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 45"^^xsd:string) AnnotationAssertion( "XLID45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112028"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 45"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9415477/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300115"^^xsd:string) AnnotationAssertion( "MESH:C564713"^^xsd:string) AnnotationAssertion( "MRX50"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 50"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 50"^^xsd:string) AnnotationAssertion( "XLID50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112029"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 50"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 84) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15326629/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300505"^^xsd:string) AnnotationAssertion( "MESH:C564501"^^xsd:string) AnnotationAssertion( "MRX84"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 84"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 84"^^xsd:string) AnnotationAssertion( "XLID84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112030"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 84"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 89) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14628291/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300848"^^xsd:string) AnnotationAssertion( "MESH:C564036"^^xsd:string) AnnotationAssertion( "MRX89"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 89"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 89"^^xsd:string) AnnotationAssertion( "XLID89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112031"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 89"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 92) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16385466/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T10:37:08Z"^^xsd:string) AnnotationAssertion( "MIM:300851"^^xsd:string) AnnotationAssertion( "MESH:C564483"^^xsd:string) AnnotationAssertion( "MRX92"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 92"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 92"^^xsd:string) AnnotationAssertion( "XLID92"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112032"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 92"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 81) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12673650/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300433"^^xsd:string) AnnotationAssertion( "MESH:C564515"^^xsd:string) AnnotationAssertion( "MRX81"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 81"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 81"^^xsd:string) AnnotationAssertion( "XLID81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112033"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 81"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10398246/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/15162322/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:309549"^^xsd:string) AnnotationAssertion( "MESH:C563137"^^xsd:string) AnnotationAssertion( "MRX44"^^xsd:string) AnnotationAssertion( "MRX9"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 9"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 44"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 9"^^xsd:string) AnnotationAssertion( "XLID9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112034"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 96) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19377476/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300802"^^xsd:string) AnnotationAssertion( "MRX96"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 96"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 96"^^xsd:string) AnnotationAssertion( "XLID96"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112035"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 96"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 105) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25644381/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300984"^^xsd:string) AnnotationAssertion( "MRX105"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 105"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 105"^^xsd:string) AnnotationAssertion( "XLID105"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112036"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 105"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromosome Xp11.22 duplication syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22840365/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7943039/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C563140"^^xsd:string) AnnotationAssertion( "MESH:C563147"^^xsd:string) AnnotationAssertion( "HUWE1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:300705"^^xsd:string) AnnotationAssertion( "MRX17"^^xsd:string) AnnotationAssertion( "MRX31"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 17"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 31"^^xsd:string) AnnotationAssertion( "Xp11.22 microduplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112037"^^xsd:string) AnnotationAssertion(rdfs:label "chromosome Xp11.22 duplication syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20473311/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3177466/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C564489"^^xsd:string) AnnotationAssertion( "MIM:309530"^^xsd:string) AnnotationAssertion( "GARD:13221"^^xsd:string) AnnotationAssertion( "MESH:C567906"^^xsd:string) AnnotationAssertion( "NCI:C133729"^^xsd:string) AnnotationAssertion( "MRX"^^xsd:string) AnnotationAssertion( "MRX1"^^xsd:string) AnnotationAssertion( "MRX18"^^xsd:string) AnnotationAssertion( "MRX78"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 1"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 1"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 1/78"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 18"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 78"^^xsd:string) AnnotationAssertion( "XLID1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112038"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 77) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12949971/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300454"^^xsd:string) AnnotationAssertion( "MESH:C564511"^^xsd:string) AnnotationAssertion( "MRX77"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 77"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 77"^^xsd:string) AnnotationAssertion( "XLID77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112039"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 77"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 100) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24812067/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "KIF4A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300923"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED 100"^^xsd:string) AnnotationAssertion( "MRX100"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 100"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 100"^^xsd:string) AnnotationAssertion( "XLID100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112040"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 100"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 90) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15185169/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300850"^^xsd:string) AnnotationAssertion( "DLG3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DLG3-related disorder"^^xsd:string) AnnotationAssertion( "MRX90"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 90"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 90"^^xsd:string) AnnotationAssertion( "XLID90"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112041"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 90"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tonne-Kalscheuer syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25735484/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29728705/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. (DO)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-19T12:03:39Z"^^xsd:string) AnnotationAssertion( "MIM:300978"^^xsd:string) AnnotationAssertion( "MRX61"^^xsd:string) AnnotationAssertion( "RLIM-RELATED SYNDROMIC INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "TOKAS"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 61"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112042"^^xsd:string) AnnotationAssertion(rdfs:label "Tonne-Kalscheuer syndrome"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 91) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15915161/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T10:26:28Z"^^xsd:string) AnnotationAssertion( "MIM:300577"^^xsd:string) AnnotationAssertion( "MESH:C564482"^^xsd:string) AnnotationAssertion( "MRX91"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 91"^^xsd:string) AnnotationAssertion( "X-linked intellectual disability 91"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 91"^^xsd:string) AnnotationAssertion( "XLID91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112043"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 91"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 98) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23615299/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27358180/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300912"^^xsd:string) AnnotationAssertion( "MRX98"^^xsd:string) AnnotationAssertion( "NEXMIF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 98"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 98"^^xsd:string) AnnotationAssertion( "XLID98"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112044"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 98"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 93) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17668385/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300659"^^xsd:string) AnnotationAssertion( "MESH:C567066"^^xsd:string) AnnotationAssertion( "BRWD3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MRX93"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 93"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 93"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with macrocephaly"^^xsd:string) AnnotationAssertion( "XLID93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112045"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 93"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 97) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10398247/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27993705/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T11:40:37Z"^^xsd:string) AnnotationAssertion( "MIM:300803"^^xsd:string) AnnotationAssertion( "MESH:C567583"^^xsd:string) AnnotationAssertion( "MRX65"^^xsd:string) AnnotationAssertion( "MRX97"^^xsd:string) AnnotationAssertion( "MRXZ"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 97"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 65"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 97"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, ZNF711-related"^^xsd:string) AnnotationAssertion( "XLID97"^^xsd:string) AnnotationAssertion( "nonsyndromic X-linked intellectual developmental disorder 97"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112046"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 97"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 53) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11337751/"^^xsd:string) "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-16T12:44:21Z"^^xsd:string) AnnotationAssertion( "MIM:300324"^^xsd:string) AnnotationAssertion( "MESH:C564533"^^xsd:string) AnnotationAssertion( "MRX53"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 53"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 53"^^xsd:string) AnnotationAssertion( "XLID53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112047"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 101) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24115387/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300928"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED 101"^^xsd:string) AnnotationAssertion( "MRX101"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 101"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 101"^^xsd:string) AnnotationAssertion( "XLID101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112048"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 101"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/6711606/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8852668/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300046"^^xsd:string) AnnotationAssertion( "MESH:C563144"^^xsd:string) AnnotationAssertion( "MRX23"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 23"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 23"^^xsd:string) AnnotationAssertion( "XLID23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112049"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 23"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 63) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10854107/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11889465/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-03T12:10:30Z"^^xsd:string) AnnotationAssertion( "MIM:300387"^^xsd:string) AnnotationAssertion( "GARD:5613"^^xsd:string) AnnotationAssertion( "MESH:C564522"^^xsd:string) AnnotationAssertion( "ACSL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACSL4-related intellectual disability"^^xsd:string) AnnotationAssertion( "MRX63"^^xsd:string) AnnotationAssertion( "MRX68"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 63"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 63"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 68"^^xsd:string) AnnotationAssertion( "XLID63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112050"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 63"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10946356/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9332663/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9731525/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C563151"^^xsd:string) AnnotationAssertion( "MIM:300558"^^xsd:string) AnnotationAssertion( "MESH:C563146"^^xsd:string) AnnotationAssertion( "MRX30"^^xsd:string) AnnotationAssertion( "MRX47"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 30"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 30"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 30/47"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 47"^^xsd:string) AnnotationAssertion( "XLID30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112051"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 82) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15526294/"^^xsd:string) "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300518"^^xsd:string) AnnotationAssertion( "MESH:C564496"^^xsd:string) AnnotationAssertion( "MRX82"^^xsd:string) AnnotationAssertion( "X-linked impaired intellectual development 82"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 82"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 82"^^xsd:string) AnnotationAssertion( "XLID82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112052"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 82"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 88) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12089445/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23871722/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300852"^^xsd:string) AnnotationAssertion( "MRX88"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 88"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 88"^^xsd:string) AnnotationAssertion( "XLID88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112053"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 88"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 107) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29374277/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301013"^^xsd:string) AnnotationAssertion( "MRX107"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 107"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 107"^^xsd:string) AnnotationAssertion( "XLID107"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112054"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 107"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9783701/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T17:54:12Z"^^xsd:string) AnnotationAssertion( "MIM:300436"^^xsd:string) AnnotationAssertion( "ARHGEF6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564513"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED 46"^^xsd:string) AnnotationAssertion( "MRX46"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 46"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 46"^^xsd:string) AnnotationAssertion( "XLID46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112055"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 46"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked intellectual disability-short stature-overweight syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26166480/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300957"^^xsd:string) AnnotationAssertion( "ORDO:457240"^^xsd:string) AnnotationAssertion( "MRX12"^^xsd:string) AnnotationAssertion( "MRX35"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 12"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 12"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 35"^^xsd:string) AnnotationAssertion( "XLID12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112056"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked intellectual disability-short stature-overweight syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 42) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11807862/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300372"^^xsd:string) AnnotationAssertion( "MESH:C564524"^^xsd:string) AnnotationAssertion( "MRX42"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 42"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 42"^^xsd:string) AnnotationAssertion( "XLID42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112057"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 42"^^xsd:string) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 41) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8826463/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9106537/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9620768/"^^xsd:string) "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300849"^^xsd:string) AnnotationAssertion( "MRX41"^^xsd:string) AnnotationAssertion( "MRX48"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 41"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 41"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 48"^^xsd:string) AnnotationAssertion( "XLID41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112058"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-syndromic X-linked intellectual disability 72) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11050621/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20159109/"^^xsd:string) "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-03T12:02:41Z"^^xsd:string) AnnotationAssertion( "MIM:300271"^^xsd:string) AnnotationAssertion( "MESH:C564547"^^xsd:string) AnnotationAssertion( "MRX72"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder 72"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 72"^^xsd:string) AnnotationAssertion( "XLID72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112059"^^xsd:string) AnnotationAssertion(rdfs:label "non-syndromic X-linked intellectual disability 72"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Raynaud-Claes syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23647072/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27550844/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8826458/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9415477/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009066"^^xsd:string) AnnotationAssertion( "MIM:300114"^^xsd:string) AnnotationAssertion( "CLCN4-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "MRX15"^^xsd:string) AnnotationAssertion( "MRX49"^^xsd:string) AnnotationAssertion( "MRXSRC"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked 15"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked 49"^^xsd:string) AnnotationAssertion( "mental retardation, X-linked 49/15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112060"^^xsd:string) AnnotationAssertion(rdfs:label "Raynaud-Claes syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30723080/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32542921/"^^xsd:string) "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618986"^^xsd:string) AnnotationAssertion( "IMD73B"^^xsd:string) AnnotationAssertion( "Immunodeficiency 73B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112061"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25512081/"^^xsd:string) "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618987"^^xsd:string) AnnotationAssertion( "IMD73C"^^xsd:string) AnnotationAssertion( "immunodeficiency 73C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112062"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-Linked immunodeficiency 74) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32706371/"^^xsd:string) "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301051"^^xsd:string) AnnotationAssertion( "COVID19-related immunodeficiency-74, X-linked"^^xsd:string) AnnotationAssertion( "IMD74"^^xsd:string) AnnotationAssertion( "Immunodeficiency 74"^^xsd:string) AnnotationAssertion( "Immunodeficiency 74, COVID19-related"^^xsd:string) AnnotationAssertion( "TLR7 deficiency"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency 74,COVID-19-related"^^xsd:string) AnnotationAssertion( "respiratory insufficiency due to SARS-CoV-2 viral infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112063"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked immunodeficiency 74"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21167572/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32542921/"^^xsd:string) "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:608203"^^xsd:string) AnnotationAssertion( "MESH:C564275"^^xsd:string) AnnotationAssertion( "ORDO:183707"^^xsd:string) AnnotationAssertion( "IMD73A"^^xsd:string) AnnotationAssertion( "neutrophil immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112064"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22644603/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22972949/"^^xsd:string) "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS252010"^^xsd:string) AnnotationAssertion( "MC1DN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112065"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency"^^xsd:string) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11220739/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618228"^^xsd:string) AnnotationAssertion( "MC1DN6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112066"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 25) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22277967/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618246"^^xsd:string) AnnotationAssertion( "MC1DN25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112067"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11349233/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618226"^^xsd:string) AnnotationAssertion( "MC1DN5"^^xsd:string) AnnotationAssertion( "NDUFS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112068"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21150889/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618243"^^xsd:string) AnnotationAssertion( "MC1DN22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112069"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19463981/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618240"^^xsd:string) AnnotationAssertion( "MC1DN18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112070"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 31) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28604674/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618251"^^xsd:string) AnnotationAssertion( "MC1DN31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112071"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 31"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 20) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/acad9-deficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17564966/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21057504/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:611126"^^xsd:string) AnnotationAssertion( "MESH:C567006"^^xsd:string) AnnotationAssertion( "ORDO:99901"^^xsd:string) AnnotationAssertion( "ACAD9 deficiency"^^xsd:string) AnnotationAssertion( "ACAD9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Acyl-CoA dehydrogenase 9 deficiency"^^xsd:string) AnnotationAssertion( "MC1DN20"^^xsd:string) AnnotationAssertion( "deficiency of acyl-CoA dehydrogenase family, member 9"^^xsd:string) AnnotationAssertion( "mitochondrial complex 1 deficiency due to ACAD9 deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial complex I deficiency due to ACAD9 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112072"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 20"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15372108/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618232"^^xsd:string) AnnotationAssertion( "MC1DN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112073"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10330338/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/10944442/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-23T10:46:32Z"^^xsd:string) AnnotationAssertion( "MIM:252010"^^xsd:string) AnnotationAssertion( "MC1DN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112074"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16200211/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618233"^^xsd:string) AnnotationAssertion( "MC1DN10"^^xsd:string) AnnotationAssertion( "NDUFAF2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112075"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18513682/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618235"^^xsd:string) AnnotationAssertion( "MC1DN13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112076"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18179882/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618237"^^xsd:string) AnnotationAssertion( "MC1DN15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112077"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 17) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18614015/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618239"^^xsd:string) AnnotationAssertion( "MC1DN17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112078"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 24) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22200994/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618245"^^xsd:string) AnnotationAssertion( "MC1DN24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112079"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 24"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 32) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29429571/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618252"^^xsd:string) AnnotationAssertion( "MC1DN32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112080"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 32"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14729820/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618230"^^xsd:string) AnnotationAssertion( "MC1DN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112081"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10080174/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618225"^^xsd:string) AnnotationAssertion( "MC1DN4"^^xsd:string) AnnotationAssertion( "NDUFV1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NDUFV1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NDUFV1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112082"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9837812/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-05-22T18:34:35Z"^^xsd:string) AnnotationAssertion( "MIM:618222"^^xsd:string) AnnotationAssertion( "MC1DN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112083"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27374773/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618250"^^xsd:string) AnnotationAssertion( "MC1DN29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112084"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20818383/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618241"^^xsd:string) AnnotationAssertion( "MC1DN19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "mitochondrial complex I deficiency, mitochondrial type 19"^^xsd:string) AnnotationAssertion( "DOID:0112085"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 26) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22114105/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618247"^^xsd:string) AnnotationAssertion( "MC1DN26"^^xsd:string) AnnotationAssertion( "NDUFA9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112086"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 26"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21617257/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618244"^^xsd:string) AnnotationAssertion( "MC1DN23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112087"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20818383/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618242"^^xsd:string) AnnotationAssertion( "MC1DN21"^^xsd:string) AnnotationAssertion( "NUBPL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112088"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17557076/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618234"^^xsd:string) AnnotationAssertion( "MC1DN11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112089"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 27) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22499348/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-11T10:50:34Z"^^xsd:string) AnnotationAssertion( "MIM:618248"^^xsd:string) AnnotationAssertion( "MC1DN27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112090"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 27"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 34) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31866046/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618776"^^xsd:string) AnnotationAssertion( "MC1DN34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112091"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 34"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12754703/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618229"^^xsd:string) AnnotationAssertion( "MC1DN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112092"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10330338/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17275378/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618224"^^xsd:string) AnnotationAssertion( "MC1DN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112093"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18306244/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618236"^^xsd:string) AnnotationAssertion( "MC1DN14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112094"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 28) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25901006/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618249"^^xsd:string) AnnotationAssertion( "MC1DN28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112095"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18940309/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618238"^^xsd:string) AnnotationAssertion( "MONDO:0032621"^^xsd:string) AnnotationAssertion( "MC1DN16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112096"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 33) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30245030/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618253"^^xsd:string) AnnotationAssertion( "MC1DN33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112097"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 33"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301021"^^xsd:string) AnnotationAssertion( "MC1DN30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112098"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17262856/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:301020"^^xsd:string) AnnotationAssertion( "MC1DN12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112099"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial type mitochondrial complex I deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22972949/"^^xsd:string) "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MC1DM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112100"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial type mitochondrial complex I deficiency"^^xsd:string) SubClassOf( ) # Class: (mitochondrial type mitochondrial complex I deficiency 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11456298/"^^xsd:string) "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-16T09:41:11Z"^^xsd:string) AnnotationAssertion( "MIM:500014"^^xsd:string) AnnotationAssertion( "MC1DM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112101"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial type mitochondrial complex I deficiency 1"^^xsd:string) SubClassOf( ) # Class: (Sotos syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20673863/"^^xsd:string) "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T08:58:21Z"^^xsd:string) AnnotationAssertion( "NFIX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614753"^^xsd:string) AnnotationAssertion( "MALNS"^^xsd:string) AnnotationAssertion( "Malan overgrowth syndrome"^^xsd:string) AnnotationAssertion( "Malan syndrome"^^xsd:string) AnnotationAssertion( "SOTOS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112102"^^xsd:string) AnnotationAssertion(rdfs:label "Sotos syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sotos syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11896389/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/14517949/"^^xsd:string) "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:117550"^^xsd:string) AnnotationAssertion( "NSD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SOTOS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112103"^^xsd:string) AnnotationAssertion(rdfs:label "Sotos syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sotos syndrome 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25753423/"^^xsd:string) "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T13:31:16Z"^^xsd:string) AnnotationAssertion( "APC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617169"^^xsd:string) AnnotationAssertion( "SOTOS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112104"^^xsd:string) AnnotationAssertion(rdfs:label "Sotos syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked parkinsonism-spasticity syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20629132/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23595882/"^^xsd:string) "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300911"^^xsd:string) AnnotationAssertion( "ORDO:363654"^^xsd:string) AnnotationAssertion( "X-linked parkinsonism with spasticity"^^xsd:string) AnnotationAssertion( "XPDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112105"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked parkinsonism-spasticity syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16001442/"^^xsd:string) "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300863"^^xsd:string) AnnotationAssertion( "ORDO:163966"^^xsd:string) AnnotationAssertion( "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"^^xsd:string) AnnotationAssertion( "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112106"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (McLeod syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17683354/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8004674/"^^xsd:string) "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300842"^^xsd:string) AnnotationAssertion( "GARD:10731"^^xsd:string) AnnotationAssertion( "MESH:C564038"^^xsd:string) AnnotationAssertion( "ORDO:59306"^^xsd:string) AnnotationAssertion( "MCLDS"^^xsd:string) AnnotationAssertion( "McLeod Phenotype"^^xsd:string) AnnotationAssertion( "McLeod neuroacanthocytosis syndrome"^^xsd:string) AnnotationAssertion( "McLeod syndrome with chronic granulomatous disease"^^xsd:string) AnnotationAssertion( "McLeod syndrome with or without chronic granulomatous disease"^^xsd:string) AnnotationAssertion( "Neuroacanthocytosis, McLeod Type"^^xsd:string) AnnotationAssertion( "X-linked McLeod syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112107"^^xsd:string) AnnotationAssertion(rdfs:label "McLeod syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myofibrillar myopathy 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32779703/"^^xsd:string) "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619040"^^xsd:string) AnnotationAssertion( "MFM10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112108"^^xsd:string) AnnotationAssertion(rdfs:label "myofibrillar myopathy 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 44) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31654588/"^^xsd:string) "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619044"^^xsd:string) AnnotationAssertion( "SPGF44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112109"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 44"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 49) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29361167/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619024"^^xsd:string) AnnotationAssertion( "COXPD49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112110"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 49"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31039582/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619025"^^xsd:string) AnnotationAssertion( "COXPD50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112111"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 50"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 48) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27356879/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619012"^^xsd:string) AnnotationAssertion( "COXPD48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112112"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 48"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23603806/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618951"^^xsd:string) AnnotationAssertion( "COXPD45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112113"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30566640/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618958"^^xsd:string) AnnotationAssertion( "COXPD47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112114"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 47"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618952"^^xsd:string) AnnotationAssertion( "COXPD46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112115"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 46"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 43) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30452684/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618851"^^xsd:string) AnnotationAssertion( "COXPD43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112116"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 43"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 40) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26741492/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618835"^^xsd:string) AnnotationAssertion( "ORDO:570491"^^xsd:string) AnnotationAssertion( "COXPD40"^^xsd:string) AnnotationAssertion( "QRSL1-related COXPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112117"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 40"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 42) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30283131/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618839"^^xsd:string) AnnotationAssertion( "COXPD42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112118"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 41) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30283131/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T10:01:07Z"^^xsd:string) AnnotationAssertion( "MIM:618838"^^xsd:string) AnnotationAssertion( "MONDO:0030007"^^xsd:string) AnnotationAssertion( "COXPD41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112119"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 41"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SHOX-related short stature) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9140395/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9916840/"^^xsd:string) "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300582"^^xsd:string) AnnotationAssertion( "MESH:C564479"^^xsd:string) AnnotationAssertion( "ORDO:314795"^^xsd:string) AnnotationAssertion( "ISS"^^xsd:string) AnnotationAssertion( "idiopathic familial short stature"^^xsd:string) AnnotationAssertion( "X-linked idiopathic short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112120"^^xsd:string) AnnotationAssertion(rdfs:label "SHOX-related short stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic syndrome of inappropriate antidiuresis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15872203/"^^xsd:string) "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300539"^^xsd:string) AnnotationAssertion( "AVPR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564491"^^xsd:string) AnnotationAssertion( "ORDO:93606"^^xsd:string) AnnotationAssertion( "NSIAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112121"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic syndrome of inappropriate antidiuresis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked epilepsy with variable learning disabilities and behavior disorders) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14985377/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21441247/"^^xsd:string) "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300491"^^xsd:string) AnnotationAssertion( "MESH:C564505"^^xsd:string) AnnotationAssertion( "ORDO:85294"^^xsd:string) AnnotationAssertion( "EPILX"^^xsd:string) AnnotationAssertion( "EPILX1"^^xsd:string) AnnotationAssertion( "X-linked bathing epilepsy"^^xsd:string) AnnotationAssertion( "X-linked epilepsy 1 with variable learning disabilities and behavior disorders"^^xsd:string) AnnotationAssertion( "X-linked epilepsy with reflex bathing seizures"^^xsd:string) AnnotationAssertion( "X-linked epilepsy-learning disabilities-behavior disorders syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112122"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked epilepsy with variable learning disabilities and behavior disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (deafness, dystonia, and cerebral hypomyelination) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24011989/"^^xsd:string) "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300475"^^xsd:string) AnnotationAssertion( "GARD:12472"^^xsd:string) AnnotationAssertion( "MESH:C564508"^^xsd:string) AnnotationAssertion( "ORDO:369939"^^xsd:string) AnnotationAssertion( "DDCH"^^xsd:string) AnnotationAssertion( "contiguous Abcd1/Dxs1375e deletion syndrome"^^xsd:string) AnnotationAssertion( "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"^^xsd:string) AnnotationAssertion( "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"^^xsd:string) AnnotationAssertion( "CADDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112123"^^xsd:string) AnnotationAssertion(rdfs:label "deafness, dystonia, and cerebral hypomyelination"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked retinitis pigmentosa and sinorespiratory infections) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10094550/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/1733835/"^^xsd:string) "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9005415"^^xsd:string) AnnotationAssertion( "MIM:300455"^^xsd:string) AnnotationAssertion( "MESH:C567595"^^xsd:string) AnnotationAssertion( "ORDO:247522"^^xsd:string) AnnotationAssertion( "RPSRDF"^^xsd:string) AnnotationAssertion( "X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia-retinitis pigmentosa syndrome"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS"^^xsd:string) AnnotationAssertion( "X-linked retinitis pigmentosa and sinorespiratory infections with deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112124"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked retinitis pigmentosa and sinorespiratory infections"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alpha-thalassemia myelodysplasia syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12858175/"^^xsd:string) "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300448"^^xsd:string) AnnotationAssertion( "MESH:C563023"^^xsd:string) AnnotationAssertion( "ORDO:231401"^^xsd:string) AnnotationAssertion( "ATMDS"^^xsd:string) AnnotationAssertion( "acquired HbH disease"^^xsd:string) AnnotationAssertion( "acquired hemoglobin H disease"^^xsd:string) AnnotationAssertion( "alpha-thalassemia-myelodysplastic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112125"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-thalassemia myelodysplasia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stocco Dos Santos type X-linked intellectual disability) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16249884/"^^xsd:string) "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300434"^^xsd:string) AnnotationAssertion( "MESH:C537495"^^xsd:string) AnnotationAssertion( "ORDO:85288"^^xsd:string) AnnotationAssertion( "MRXSDS"^^xsd:string) AnnotationAssertion( "SDSX"^^xsd:string) AnnotationAssertion( "Stocco dos Santos Syndrome"^^xsd:string) AnnotationAssertion( "Stocco dos Santos X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Stocco Dos Santos type"^^xsd:string) AnnotationAssertion( "mental retardation, Stocco dos Santos type"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Stocco dos Santos type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112126"^^xsd:string) AnnotationAssertion(rdfs:label "Stocco Dos Santos type X-linked intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (HRPT-related hyperuricemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10657589/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2896620/"^^xsd:string) "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300323"^^xsd:string) AnnotationAssertion( "HPRT1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C562583"^^xsd:string) AnnotationAssertion( "ORDO:79233"^^xsd:string) AnnotationAssertion( "Gout, HPRT-Related"^^xsd:string) AnnotationAssertion( "HPRT deficiency, grade I"^^xsd:string) AnnotationAssertion( "HPRT-related hyperuricemia"^^xsd:string) AnnotationAssertion( "Kelley-Seegmiller syndrome"^^xsd:string) AnnotationAssertion( "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial"^^xsd:string) AnnotationAssertion( "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I"^^xsd:string) AnnotationAssertion( "hypoxanthine guanine phosphoribosyltransferase partial deficiency"^^xsd:string) AnnotationAssertion( "partial HPRT deficiency"^^xsd:string) AnnotationAssertion( "partial HPRT1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112127"^^xsd:string) AnnotationAssertion(rdfs:label "HRPT-related hyperuricemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked severe congenital neutropenia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11242115/"^^xsd:string) "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300299"^^xsd:string) AnnotationAssertion( "GARD:3981"^^xsd:string) AnnotationAssertion( "MESH:C564539"^^xsd:string) AnnotationAssertion( "NCI:C176818"^^xsd:string) AnnotationAssertion( "SCNX"^^xsd:string) AnnotationAssertion( "XLN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112128"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked severe congenital neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24753537/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26324699/"^^xsd:string) "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617014"^^xsd:string) AnnotationAssertion( "ORDO:420702"^^xsd:string) AnnotationAssertion( "SCN7"^^xsd:string) AnnotationAssertion( "autosomal recessive severe congenital neutropenia 7"^^xsd:string) AnnotationAssertion( "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112129"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant severe congenital neutropenia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28593997/"^^xsd:string) "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112130"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant severe congenital neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12778173/"^^xsd:string) "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613107"^^xsd:string) AnnotationAssertion( "MESH:C567748"^^xsd:string) AnnotationAssertion( "SCN2"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia, autosomal dominant 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112131"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 2"^^xsd:string) SubClassOf( ) # Class: (severe congenital neutropenia 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23599270/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23738510/"^^xsd:string) "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615285"^^xsd:string) AnnotationAssertion( "ORDO:369852"^^xsd:string) AnnotationAssertion( "SCN5"^^xsd:string) AnnotationAssertion( "VPS45 deficiency"^^xsd:string) AnnotationAssertion( "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"^^xsd:string) AnnotationAssertion( "congenital neutropenia-myelofibrosis-nephromegaly syndrome"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia 5, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112132"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17187068/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21108402/"^^xsd:string) "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610738"^^xsd:string) AnnotationAssertion( "severe infantile genetic neutropenia"^^xsd:string) AnnotationAssertion( "GARD:302"^^xsd:string) AnnotationAssertion( "MESH:C537592"^^xsd:string) AnnotationAssertion( "ORDO:99749"^^xsd:string) AnnotationAssertion( "Kostmann disease"^^xsd:string) AnnotationAssertion( "Kostmann syndrome"^^xsd:string) AnnotationAssertion( "Kostmann's agranulocytosis"^^xsd:string) AnnotationAssertion( "Kostmann's syndrome"^^xsd:string) AnnotationAssertion( "SCN3"^^xsd:string) AnnotationAssertion( "autosomal dominant or sporadic congenital neutropenia"^^xsd:string) AnnotationAssertion( "congenital agranulocytosis"^^xsd:string) AnnotationAssertion( "infantile agranulocytosis"^^xsd:string) AnnotationAssertion( "infantile genetic agranulocytosis"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112133"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25129144/"^^xsd:string) "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616022"^^xsd:string) AnnotationAssertion( "ORDO:423384"^^xsd:string) AnnotationAssertion( "SCN6"^^xsd:string) AnnotationAssertion( "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia 6, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112134"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe congenital neutropenia 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28972538/"^^xsd:string) "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618752"^^xsd:string) AnnotationAssertion( "SCN8"^^xsd:string) AnnotationAssertion( "SDSL"^^xsd:string) AnnotationAssertion( "Shwachman-Diamond syndrome-like"^^xsd:string) AnnotationAssertion( "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia, autosomal dominant 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112135"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 8"^^xsd:string) SubClassOf( ) # Class: (severe congenital neutropenia 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19118303/"^^xsd:string) "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T15:06:42Z"^^xsd:string) AnnotationAssertion( "MIM:612541"^^xsd:string) AnnotationAssertion( "MESH:C567260"^^xsd:string) AnnotationAssertion( "ORDO:331176"^^xsd:string) AnnotationAssertion( "G6PC3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCN4"^^xsd:string) AnnotationAssertion( "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia, autosomal recessive 4"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112136"^^xsd:string) AnnotationAssertion(rdfs:label "severe congenital neutropenia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined oxidative phosphorylation deficiency 51) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30607703/"^^xsd:string) "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619057"^^xsd:string) AnnotationAssertion( "COXPD51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112137"^^xsd:string) AnnotationAssertion(rdfs:label "combined oxidative phosphorylation deficiency 51"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary coenzyme Q10 deficiency 9) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29044765/"^^xsd:string) "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619028"^^xsd:string) AnnotationAssertion( "COQ10D9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112138"^^xsd:string) AnnotationAssertion(rdfs:label "primary coenzyme Q10 deficiency 9"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear type mitochondrial complex I deficiency 35) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28040730/"^^xsd:string) "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619003"^^xsd:string) AnnotationAssertion( "MC1DN35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112139"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear type mitochondrial complex I deficiency 35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 83) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30932721/"^^xsd:string) "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618173"^^xsd:string) AnnotationAssertion( "RP83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112140"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 83"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 84) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24737827/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30208423/"^^xsd:string) "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618220"^^xsd:string) AnnotationAssertion( "RP84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112141"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 84"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 85) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29726989/"^^xsd:string) "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618345"^^xsd:string) AnnotationAssertion( "RP85"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112142"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 85"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 86) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30120214/"^^xsd:string) "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618613"^^xsd:string) AnnotationAssertion( "RP86"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112143"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 86"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 87) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27307694/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30628748/"^^xsd:string) "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618697"^^xsd:string) AnnotationAssertion( "RP87"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 87 with choroidal involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112144"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 87"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 88) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30025130/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31236346/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31833436/"^^xsd:string) "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RP1L1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618826"^^xsd:string) AnnotationAssertion( "RP88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112145"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 88"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 89) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32386558/"^^xsd:string) "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618955"^^xsd:string) AnnotationAssertion( "RP89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112146"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 89"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa 90) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28412069/"^^xsd:string) "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619007"^^xsd:string) AnnotationAssertion( "RP90"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112147"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa 90"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uruguay faciocardiomusculoskeletal syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11102932/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26933038/"^^xsd:string) "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300280"^^xsd:string) AnnotationAssertion( "MESH:C564544"^^xsd:string) AnnotationAssertion( "FCMSU"^^xsd:string) AnnotationAssertion( "faciocardiomusculoskeletal syndrome, Uruguay type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112148"^^xsd:string) AnnotationAssertion(rdfs:label "Uruguay faciocardiomusculoskeletal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (terminal osseous dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20598277/"^^xsd:string) "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300244"^^xsd:string) AnnotationAssertion( "MESH:C564554"^^xsd:string) AnnotationAssertion( "ORDO:88630"^^xsd:string) AnnotationAssertion( "ODPD"^^xsd:string) AnnotationAssertion( "ODPF"^^xsd:string) AnnotationAssertion( "ODPF syndrome"^^xsd:string) AnnotationAssertion( "TOD"^^xsd:string) AnnotationAssertion( "TODPD"^^xsd:string) AnnotationAssertion( "digital osseous dysplasia with facial pigmentary defects and multiple frenula"^^xsd:string) AnnotationAssertion( "terminal osseous dysplasia and pigmentary defects"^^xsd:string) AnnotationAssertion( "terminal osseous dysplasia-pigmentary defects syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112149"^^xsd:string) AnnotationAssertion(rdfs:label "terminal osseous dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked spondyloepimetaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27236923/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8064814/"^^xsd:string) "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300106"^^xsd:string) AnnotationAssertion( "BGN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4979"^^xsd:string) AnnotationAssertion( "MESH:C564714"^^xsd:string) AnnotationAssertion( "NCI:C188996"^^xsd:string) AnnotationAssertion( "ORDO:93349"^^xsd:string) AnnotationAssertion( "SEMD, X-Linked"^^xsd:string) AnnotationAssertion( "SEMDX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112150"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spondyloepimetaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corpus callosum agenesis-abnormal genitalia syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14722918/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/1605226/"^^xsd:string) "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300004"^^xsd:string) AnnotationAssertion( "GARD:4528"^^xsd:string) AnnotationAssertion( "MESH:C563110"^^xsd:string) AnnotationAssertion( "ORDO:2508"^^xsd:string) AnnotationAssertion( "ACC with abnormal genitalia"^^xsd:string) AnnotationAssertion( "ACC-abnormal genitalia syndrome"^^xsd:string) AnnotationAssertion( "Proud syndrome"^^xsd:string) AnnotationAssertion( "Proud-Levine-Carpenter syndrome"^^xsd:string) AnnotationAssertion( "agenesis of corpus callosum with abnormal genitalia"^^xsd:string) AnnotationAssertion( "corpus callosum agenesis with abnormal genitalia"^^xsd:string) AnnotationAssertion( "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112151"^^xsd:string) AnnotationAssertion(rdfs:label "corpus callosum agenesis-abnormal genitalia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CHIME syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22444671/"^^xsd:string) "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:280000"^^xsd:string) AnnotationAssertion( "GARD:310"^^xsd:string) AnnotationAssertion( "MESH:C536729"^^xsd:string) AnnotationAssertion( "ORDO:3474"^^xsd:string) AnnotationAssertion( "CHIME"^^xsd:string) AnnotationAssertion( "GPIBD5"^^xsd:string) AnnotationAssertion( "PIGL-CDG"^^xsd:string) AnnotationAssertion( "Zunich neuroectodermal syndrome"^^xsd:string) AnnotationAssertion( "Zunich-Kaye syndrome"^^xsd:string) AnnotationAssertion( "coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome"^^xsd:string) AnnotationAssertion( "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome"^^xsd:string) AnnotationAssertion( "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome"^^xsd:string) AnnotationAssertion( "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation due to PIGL deficiency"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 5"^^xsd:string) AnnotationAssertion( "neuroectodermal dysplasia, CHIME type"^^xsd:string) AnnotationAssertion( "neuroectodermal syndrome, Zunich type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112152"^^xsd:string) AnnotationAssertion(rdfs:label "CHIME syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypomyelinating leukodystrophy 20) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32128616/"^^xsd:string) "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-31T11:45:15Z"^^xsd:string) AnnotationAssertion( "MIM:619071"^^xsd:string) AnnotationAssertion( "HLD20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112153"^^xsd:string) AnnotationAssertion(rdfs:label "hypomyelinating leukodystrophy 20"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 30) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29408806/"^^xsd:string) "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619079"^^xsd:string) AnnotationAssertion( "CARD8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IBD30"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease (Crohn disease) 30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112154"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 30"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory bowel disease 29) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29420262/"^^xsd:string) "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618077"^^xsd:string) AnnotationAssertion( "IBD29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112155"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory bowel disease 29"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked dyserythropoietic anemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16783379/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22706301/"^^xsd:string) "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300835"^^xsd:string) AnnotationAssertion( "ORDO:363727"^^xsd:string) AnnotationAssertion( "X-linked anemia with or without neutropenia and/or platelet abnormalities"^^xsd:string) AnnotationAssertion( "X-linked anemia with/without neutropenia and/or platelet abnormalities"^^xsd:string) AnnotationAssertion( "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"^^xsd:string) AnnotationAssertion( "XLANP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112156"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked dyserythropoietic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked atrophic macular degeneration) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12160730/"^^xsd:string) "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300834"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112157"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked atrophic macular degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (De Sanctis-Cacchione syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10767341/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2168777/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28491977/"^^xsd:string) "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:278800"^^xsd:string) AnnotationAssertion( "GARD:8276"^^xsd:string) AnnotationAssertion( "MESH:C535992"^^xsd:string) AnnotationAssertion( "NCI:C84666"^^xsd:string) AnnotationAssertion( "ORDO:1569"^^xsd:string) AnnotationAssertion( "Desanctis-Cacchione Syndrome"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum with neurologic manifestation"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia"^^xsd:string) AnnotationAssertion( "xerodermic idiocy of de Sanctis and Cacchione"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112158"^^xsd:string) AnnotationAssertion(rdfs:label "De Sanctis-Cacchione syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 78) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32294086/"^^xsd:string) "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619081"^^xsd:string) AnnotationAssertion( "DFNA78"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 78"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112159"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 78"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 79) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31972369/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-31T11:55:23Z"^^xsd:string) AnnotationAssertion( "MIM:619086"^^xsd:string) AnnotationAssertion( "DFNA79"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112160"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 79"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32721402/"^^xsd:string) "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619087"^^xsd:string) AnnotationAssertion( "NS13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112161"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive nonsyndromic deafness 116) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31175426/"^^xsd:string) "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T14:54:42Z"^^xsd:string) AnnotationAssertion( "MIM:619093"^^xsd:string) AnnotationAssertion( "DFNB116"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 116"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112162"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive nonsyndromic deafness 116"^^xsd:string) SubClassOf( ) # Class: (spermatogenic failure 45) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30811583/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619094"^^xsd:string) AnnotationAssertion( "SPGF45"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112163"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 45"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 46) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32619401/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32681648/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T10:11:43Z"^^xsd:string) AnnotationAssertion( "MIM:619095"^^xsd:string) AnnotationAssertion( "DNAH8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPGF46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112164"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 46"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 74) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29860631/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-04T13:40:09Z"^^xsd:string) AnnotationAssertion( "MIM:618140"^^xsd:string) AnnotationAssertion( "DFNA74"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112165"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 74"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 75) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31231791/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "TRRAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TRRAP-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:618778"^^xsd:string) AnnotationAssertion( "DFNA75"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 75"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112166"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 75"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 76) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30872814/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31397523/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31432506/"^^xsd:string) "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T13:19:12Z"^^xsd:string) AnnotationAssertion( "MIM:618787"^^xsd:string) AnnotationAssertion( "DFNA76"^^xsd:string) AnnotationAssertion( "PLS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112167"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 76"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant nonsyndromic deafness 77) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31273342/"^^xsd:string) "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-04T10:38:35Z"^^xsd:string) AnnotationAssertion( "MIM:618915"^^xsd:string) AnnotationAssertion( "DFNA77"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112168"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant nonsyndromic deafness 77"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28289718/"^^xsd:string) "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-29T09:38:19Z"^^xsd:string) AnnotationAssertion( "MIM:618499"^^xsd:string) AnnotationAssertion( "NS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112169"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31130282/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31130285/"^^xsd:string) "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T15:18:56Z"^^xsd:string) AnnotationAssertion( "MIM:618624"^^xsd:string) AnnotationAssertion( "NS12"^^xsd:string) AnnotationAssertion( "RRAS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112170"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (wrinkly skin syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18157129/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/4765201/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK5200/"^^xsd:string) "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:278250"^^xsd:string) AnnotationAssertion( "GARD:273"^^xsd:string) AnnotationAssertion( "MESH:C536750"^^xsd:string) AnnotationAssertion( "ORDO:2834"^^xsd:string) AnnotationAssertion( "WSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112171"^^xsd:string) AnnotationAssertion(rdfs:label "wrinkly skin syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary combined deficiency of vitamin K-dependent clotting factors) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20630065/"^^xsd:string) "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:98434"^^xsd:string) AnnotationAssertion( "hereditary combined deficiency of factors II, VII, IX and X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112172"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary combined deficiency of vitamin K-dependent clotting factors"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined deficiency of vitamin K-dependent clotting factors 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9845520/"^^xsd:string) "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:277450"^^xsd:string) AnnotationAssertion( "GGCX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564741"^^xsd:string) AnnotationAssertion( "FMFD III"^^xsd:string) AnnotationAssertion( "Factors II, VII, IX, And X, Combined Deficiency Of"^^xsd:string) AnnotationAssertion( "Familial Multiple Coagulation Factor Deficiency III"^^xsd:string) AnnotationAssertion( "Glutamic Acid, Deficient Gamma-Carboxylation Of"^^xsd:string) AnnotationAssertion( "MCFD3"^^xsd:string) AnnotationAssertion( "Multiple Coagulation Factor Deficiency III"^^xsd:string) AnnotationAssertion( "VKCFD"^^xsd:string) AnnotationAssertion( "VKCFD1"^^xsd:string) AnnotationAssertion( "Vitamin K-Dependent Coagulation Defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112173"^^xsd:string) AnnotationAssertion(rdfs:label "combined deficiency of vitamin K-dependent clotting factors 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined deficiency of vitamin K-dependent clotting factors 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14765194/"^^xsd:string) "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607473"^^xsd:string) AnnotationAssertion( "MESH:C564393"^^xsd:string) AnnotationAssertion( "VKCFD2"^^xsd:string) AnnotationAssertion( "combined deficiency of vitamin K-dependent clotting factors, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112174"^^xsd:string) AnnotationAssertion(rdfs:label "combined deficiency of vitamin K-dependent clotting factors 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 47) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32051257/"^^xsd:string) "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T16:24:01Z"^^xsd:string) AnnotationAssertion( "MIM:619102"^^xsd:string) AnnotationAssertion( "SPGF47"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112175"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 47"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 48) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32017041/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32673564/"^^xsd:string) "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619108"^^xsd:string) AnnotationAssertion( "SPGF48"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112176"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 48"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mayer-Rokitansky-Kuster-Hauser syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32819397/"^^xsd:string) "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:53:11Z"^^xsd:string) AnnotationAssertion( "MESH:C537371"^^xsd:string) AnnotationAssertion( "NCI:C124853"^^xsd:string) AnnotationAssertion( "ORDO:3109"^^xsd:string) AnnotationAssertion( "MRK anomaly"^^xsd:string) AnnotationAssertion( "MRKH anomaly"^^xsd:string) AnnotationAssertion( "MRKH syndrome"^^xsd:string) AnnotationAssertion( "MULLERIAN APLASIA/DYSGENESIS"^^xsd:string) AnnotationAssertion( "Mullerian Aplasia"^^xsd:string) AnnotationAssertion( "Mullerian duct failure"^^xsd:string) AnnotationAssertion( "RKH syndrome"^^xsd:string) AnnotationAssertion( "Rokitansky Kuster Hauser syndrome"^^xsd:string) AnnotationAssertion( "Rokitansky syndrome"^^xsd:string) AnnotationAssertion( "UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA"^^xsd:string) AnnotationAssertion( "von Mayer-Rokitansky-Kuster anomaly"^^xsd:string) AnnotationAssertion( "APLASIA OF THE UTERUS"^^xsd:string) AnnotationAssertion( "CAUV UROGENITAL ADYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112177"^^xsd:string) AnnotationAssertion(rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mayer-Rokitansky-Kuster-Hauser syndrome type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16691591/"^^xsd:string) "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T14:59:11Z"^^xsd:string) AnnotationAssertion( "MIM:277000"^^xsd:string) AnnotationAssertion( "ORDO:247775"^^xsd:string) AnnotationAssertion( "MRKH syndrome type 1"^^xsd:string) AnnotationAssertion( "Rokitansky sequence"^^xsd:string) AnnotationAssertion( "congenital absence of uterus and vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112178"^^xsd:string) AnnotationAssertion(rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 1"^^xsd:string) SubClassOf( ) # Class: (Mayer-Rokitansky-Kuster-Hauser syndrome type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/469663/"^^xsd:string) "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-04T13:10:00Z"^^xsd:string) AnnotationAssertion( "MIM:601076"^^xsd:string) AnnotationAssertion( "ORDO:2578"^^xsd:string) AnnotationAssertion( "Klippel-Feil deformity, conductive deafness, and absent vagina"^^xsd:string) AnnotationAssertion( "MRKH syndrome type 2"^^xsd:string) AnnotationAssertion( "MRKH, Type II"^^xsd:string) AnnotationAssertion( "MURCS"^^xsd:string) AnnotationAssertion( "MURCS association"^^xsd:string) AnnotationAssertion( "Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II"^^xsd:string) AnnotationAssertion( "Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies"^^xsd:string) AnnotationAssertion( "atypical MRKH syndrome"^^xsd:string) AnnotationAssertion( "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia"^^xsd:string) AnnotationAssertion( "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112179"^^xsd:string) AnnotationAssertion(rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 2"^^xsd:string) SubClassOf( ) # Class: (urocanase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19304569/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6107814/"^^xsd:string) "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T12:31:20Z"^^xsd:string) AnnotationAssertion( "MIM:276880"^^xsd:string) AnnotationAssertion( "GARD:8539"^^xsd:string) AnnotationAssertion( "MESH:C536479"^^xsd:string) AnnotationAssertion( "ORDO:210128"^^xsd:string) AnnotationAssertion( "UROCD"^^xsd:string) AnnotationAssertion( "encephalopathy due to urocanase deficiency"^^xsd:string) AnnotationAssertion( "high urine urocanic acid levels"^^xsd:string) AnnotationAssertion( "urocanate hydratase deficiency"^^xsd:string) AnnotationAssertion( "urocanic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112180"^^xsd:string) AnnotationAssertion(rdfs:label "urocanase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schinzel type phocomelia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16826533/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/20949531/"^^xsd:string) "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-17T13:04:05Z"^^xsd:string) AnnotationAssertion( "MIM:276820"^^xsd:string) AnnotationAssertion( "GARD:9212"^^xsd:string) AnnotationAssertion( "MESH:C535612"^^xsd:string) AnnotationAssertion( "ORDO:2879"^^xsd:string) AnnotationAssertion( "AARRS"^^xsd:string) AnnotationAssertion( "Al Awadi Rass Rothschild syndrome"^^xsd:string) AnnotationAssertion( "Al Awadi Syndrome"^^xsd:string) AnnotationAssertion( "Al-Awadi-Raas-Rothschild Syndrome"^^xsd:string) AnnotationAssertion( "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome"^^xsd:string) AnnotationAssertion( "LPHAS"^^xsd:string) AnnotationAssertion( "Limb-Pelvis Hypoplasia-Aplasia syndrome"^^xsd:string) AnnotationAssertion( "Schinzel phocomelia syndrome"^^xsd:string) AnnotationAssertion( "Ulna and fibula absence of with severe limb deficiency"^^xsd:string) AnnotationAssertion( "aplasia/hypoplasia of limbs and pelvis"^^xsd:string) AnnotationAssertion( "congenital absence of ulna and fibula"^^xsd:string) AnnotationAssertion( "severe limb deficit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112181"^^xsd:string) AnnotationAssertion(rdfs:label "Schinzel type phocomelia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mismatch repair cancer syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24737826/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7661930/"^^xsd:string) "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-05T08:16:37Z"^^xsd:string) AnnotationAssertion( "MESH:C536928"^^xsd:string) AnnotationAssertion( "MIM:PS276300"^^xsd:string) AnnotationAssertion( "NCI:C3938"^^xsd:string) AnnotationAssertion( "ORDO:252202"^^xsd:string) AnnotationAssertion( "CMMR-D syndrome"^^xsd:string) AnnotationAssertion( "CMMRDS"^^xsd:string) AnnotationAssertion( "CNS tumors with Familial polyposis of the colon"^^xsd:string) AnnotationAssertion( "CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME"^^xsd:string) AnnotationAssertion( "MMR deficiency"^^xsd:string) AnnotationAssertion( "MMRCS"^^xsd:string) AnnotationAssertion( "Turcot syndrome"^^xsd:string) AnnotationAssertion( "childhood cancer syndrome"^^xsd:string) AnnotationAssertion( "mismatch repair cancer syndromes"^^xsd:string) AnnotationAssertion( "mismatch repair deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112182"^^xsd:string) AnnotationAssertion(rdfs:label "mismatch repair cancer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial thyroid dyshormonogenesis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15863666/"^^xsd:string) "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T15:35:11Z"^^xsd:string) AnnotationAssertion( "ORDO:95716"^^xsd:string) AnnotationAssertion( "Thyroid Dyshormonogenesis"^^xsd:string) AnnotationAssertion( "dyshormogenetic goiter"^^xsd:string) AnnotationAssertion( "thyroid hormonogenesis defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112183"^^xsd:string) AnnotationAssertion(rdfs:label "familial thyroid dyshormonogenesis"^^xsd:string) SubClassOf( ) # Class: (thyroid dyshormonogenesis 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18042646/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T15:31:11Z"^^xsd:string) AnnotationAssertion( "MIM:274900"^^xsd:string) AnnotationAssertion( "MESH:C562771"^^xsd:string) AnnotationAssertion( "TDH5"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis, 5"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112184"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid dyshormonogenesis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9171822/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T15:35:11Z"^^xsd:string) AnnotationAssertion( "MIM:274400"^^xsd:string) AnnotationAssertion( "MESH:C564766"^^xsd:string) AnnotationAssertion( "Hypothyroidism, Congenital, due to Dyshormonogenesis, 1"^^xsd:string) AnnotationAssertion( "SLC5A5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TDH1"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 1"^^xsd:string) AnnotationAssertion( "iodide accumulation, transport, or trapping defect"^^xsd:string) AnnotationAssertion( "iodine accumulation, transport, or trapping defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112185"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid dyshormonogenesis 2A) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1401057/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-13T08:05:17Z"^^xsd:string) AnnotationAssertion( "MIM:274500"^^xsd:string) AnnotationAssertion( "MESH:C563206"^^xsd:string) AnnotationAssertion( "TDH2A"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis 2A"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 2A"^^xsd:string) AnnotationAssertion( "iodide peroxidase deficiency"^^xsd:string) AnnotationAssertion( "thyroid peroxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112186"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 2A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid dyshormonogenesis 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17244789/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T15:47:11Z"^^xsd:string) AnnotationAssertion( "MIM:274700"^^xsd:string) AnnotationAssertion( "TG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C562769"^^xsd:string) AnnotationAssertion( "TDH3"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis 3"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112187"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid dyshormonogenesis 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18434651/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:274800"^^xsd:string) AnnotationAssertion( "MESH:C562770"^^xsd:string) AnnotationAssertion( "Deiodinase Deficiency"^^xsd:string) AnnotationAssertion( "Hypothyroidism, Congenital, due to Dyshormonogenesis, 4"^^xsd:string) AnnotationAssertion( "TDH4"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 4"^^xsd:string) AnnotationAssertion( "iodotyrosine dehalogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112188"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid dyshormonogenesis 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12110737/"^^xsd:string) "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-16T09:44:40Z"^^xsd:string) AnnotationAssertion( "MIM:607200"^^xsd:string) AnnotationAssertion( "MESH:C564608"^^xsd:string) AnnotationAssertion( "DUOX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TDH6"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to dyshormonogenesis 6"^^xsd:string) AnnotationAssertion( "genetic defect in thyroid hormonogenesis 6"^^xsd:string) AnnotationAssertion( "nongoitrous euthyroid hyperthyrotropinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112189"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid dyshormonogenesis 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal arthrogryposis type 1C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32707087/"^^xsd:string) "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-07T07:39:50Z"^^xsd:string) AnnotationAssertion( "MIM:619110"^^xsd:string) AnnotationAssertion( "DA1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112190"^^xsd:string) AnnotationAssertion(rdfs:label "distal arthrogryposis type 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tetraamelia syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16283889/"^^xsd:string) "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T16:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:386"^^xsd:string) AnnotationAssertion( "ORDO:3301"^^xsd:string) AnnotationAssertion( "TETAMS"^^xsd:string) AnnotationAssertion( "Tetra-Amelia"^^xsd:string) AnnotationAssertion( "Tetra-Amelia Syndrome"^^xsd:string) AnnotationAssertion( "tetraamelia-multiple malformations syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112191"^^xsd:string) AnnotationAssertion(rdfs:label "tetraamelia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tetraamelia syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14872406/"^^xsd:string) "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T16:10:11Z"^^xsd:string) AnnotationAssertion( "MIM:273395"^^xsd:string) AnnotationAssertion( "GARD:5148"^^xsd:string) AnnotationAssertion( "MESH:C536498"^^xsd:string) AnnotationAssertion( "TETAMS1"^^xsd:string) AnnotationAssertion( "Tetra-Amelia Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Tetraamelia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "tetra-amelia syndrome 1"^^xsd:string) AnnotationAssertion( "tetraamelia syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112192"^^xsd:string) AnnotationAssertion(rdfs:label "tetraamelia syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tetraamelia syndrome 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16283889/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29769720/"^^xsd:string) "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618021"^^xsd:string) AnnotationAssertion( "GARD:5147"^^xsd:string) AnnotationAssertion( "MESH:C536499"^^xsd:string) AnnotationAssertion( "TETAMS2"^^xsd:string) AnnotationAssertion( "absence of upper and lower limbs with pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "syndrome of tetraamelia with pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "tetra-amelia with pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "tetraamelia syndrome 2 with pulmonary agenesis"^^xsd:string) AnnotationAssertion( "tetraamelia with pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112193"^^xsd:string) AnnotationAssertion(rdfs:label "tetraamelia syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Filippi syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18553552/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25439729/"^^xsd:string) "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T16:17:11Z"^^xsd:string) AnnotationAssertion( "MESH:C537528"^^xsd:string) AnnotationAssertion( "MIM:272440"^^xsd:string) AnnotationAssertion( "GARD:62"^^xsd:string) AnnotationAssertion( "MESH:C538152"^^xsd:string) AnnotationAssertion( "ORDO:3255"^^xsd:string) AnnotationAssertion( "FLPIS"^^xsd:string) AnnotationAssertion( "Scott Bryant Graham Syndrome"^^xsd:string) AnnotationAssertion( "Scott craniodigital syndrome with mental retardation"^^xsd:string) AnnotationAssertion( "craniodigital syndrome with mental retardation"^^xsd:string) AnnotationAssertion( "craniodigital syndrome-mental retardation, Scott type"^^xsd:string) AnnotationAssertion( "syndactyly type I with microcephaly and mental retardation"^^xsd:string) AnnotationAssertion( "type 1 syndactyly-microcephaly-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112194"^^xsd:string) AnnotationAssertion(rdfs:label "Filippi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloperipheral dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15316962/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8723097/"^^xsd:string) "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-06T09:20:20Z"^^xsd:string) AnnotationAssertion( "MIM:271700"^^xsd:string) AnnotationAssertion( "MESH:C535799"^^xsd:string) AnnotationAssertion( "NCI:C135088"^^xsd:string) AnnotationAssertion( "ORDO:1856"^^xsd:string) AnnotationAssertion( "familial spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "spondyloperipheral dysplasia with short ulna"^^xsd:string) AnnotationAssertion( "spondyloperipheral dysplasia, short ulna"^^xsd:string) AnnotationAssertion( "spondyloperipheral dysplasia-short ulna syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112195"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloperipheral dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylometaepiphyseal dysplasia, short limb-hand type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31406622/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8434618/"^^xsd:string) "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T18:19:11Z"^^xsd:string) AnnotationAssertion( "MIM:271665"^^xsd:string) AnnotationAssertion( "GARD:10616"^^xsd:string) AnnotationAssertion( "MESH:C564794"^^xsd:string) AnnotationAssertion( "ORDO:93358"^^xsd:string) AnnotationAssertion( "SMED Type II"^^xsd:string) AnnotationAssertion( "SMED type 2"^^xsd:string) AnnotationAssertion( "SMED, Short Limb-Abnormal Calcification Type"^^xsd:string) AnnotationAssertion( "SMED, Short Limb-Hand Type"^^xsd:string) AnnotationAssertion( "SMED-SL"^^xsd:string) AnnotationAssertion( "SMED-SL/AC"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"^^xsd:string) AnnotationAssertion( "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112196"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaepiphyseal dysplasia, short limb-hand type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia with joint laxity) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30358852/"^^xsd:string) "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T18:24:11Z"^^xsd:string) AnnotationAssertion( "GARD:4982"^^xsd:string) AnnotationAssertion( "MESH:C562968"^^xsd:string) AnnotationAssertion( "MIM:PS271640"^^xsd:string) AnnotationAssertion( "ORDO:93359"^^xsd:string) AnnotationAssertion( "PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS"^^xsd:string) AnnotationAssertion( "SEMDJL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112197"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia with joint laxity type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10482874/"^^xsd:string) "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T18:29:11Z"^^xsd:string) AnnotationAssertion( "MIM:271640"^^xsd:string) AnnotationAssertion( "SEMDJL1"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with joint laxity type 1, with fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112198"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia with joint laxity type 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19277648/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22152677/"^^xsd:string) "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-10T14:09:01Z"^^xsd:string) AnnotationAssertion( "MIM:603546"^^xsd:string) AnnotationAssertion( "MESH:C535784"^^xsd:string) AnnotationAssertion( "NCI:C125419"^^xsd:string) AnnotationAssertion( "ORDO:93360"^^xsd:string) AnnotationAssertion( "KIF22-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SEMD-MD"^^xsd:string) AnnotationAssertion( "SEMDJL2"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with joint laxity, Hall type"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with multiple dislocations"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112199"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia with joint laxity type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26669664/"^^xsd:string) "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-11T07:29:20Z"^^xsd:string) AnnotationAssertion( "MIM:618395"^^xsd:string) AnnotationAssertion( "SEMDJL3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112200"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33053334/"^^xsd:string) "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T15:03:51Z"^^xsd:string) AnnotationAssertion( "MIM:619131"^^xsd:string) AnnotationAssertion( "MONDO:0030861"^^xsd:string) AnnotationAssertion( "OI21"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XXI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112201"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28276062/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31926847/"^^xsd:string) "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "RYR3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TMEM63B-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:PS308350"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY"^^xsd:string) AnnotationAssertion( "KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "RYR3-RELATED EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112202"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy"^^xsd:string) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 67) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29630738/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-11T10:53:07Z"^^xsd:string) AnnotationAssertion( "MIM:618141"^^xsd:string) AnnotationAssertion( "DEE67"^^xsd:string) AnnotationAssertion( "EIEE67"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112203"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 67"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 68) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28364549/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618201"^^xsd:string) AnnotationAssertion( "DEE68"^^xsd:string) AnnotationAssertion( "EIEE68"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112204"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 68"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 69) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30343943/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-17T09:48:43Z"^^xsd:string) AnnotationAssertion( "MIM:618285"^^xsd:string) AnnotationAssertion( "CACNA1E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEE69"^^xsd:string) AnnotationAssertion( "EIEE69"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112205"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 69"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 70) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30256902/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618298"^^xsd:string) AnnotationAssertion( "DEE70"^^xsd:string) AnnotationAssertion( "EIEE70"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112206"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 70"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 71) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30575854/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618328"^^xsd:string) AnnotationAssertion( "DEE71"^^xsd:string) AnnotationAssertion( "EIEE71"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 71"^^xsd:string) AnnotationAssertion( "glutaminase deficiency with neonatal epileptic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112207"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 71"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 72) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30323019/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618374"^^xsd:string) AnnotationAssertion( "DEE72"^^xsd:string) AnnotationAssertion( "EIEE72"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112208"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 72"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 73) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30595371/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618379"^^xsd:string) AnnotationAssertion( "DEE73"^^xsd:string) AnnotationAssertion( "EIEE73"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112209"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 73"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 74) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27864268/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "GABRG2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618396"^^xsd:string) AnnotationAssertion( "DEE74"^^xsd:string) AnnotationAssertion( "EIEE74"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112210"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 74"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 75) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29915213/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:31:00Z"^^xsd:string) AnnotationAssertion( "MIM:618437"^^xsd:string) AnnotationAssertion( "DEE75"^^xsd:string) AnnotationAssertion( "EIEE75"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 75"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112211"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 75"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 76) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31031012/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:34:11Z"^^xsd:string) AnnotationAssertion( "ACTL6B-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "MIM:618468"^^xsd:string) AnnotationAssertion( "NCI:C179296"^^xsd:string) AnnotationAssertion( "ACTL6B-RELATED RECESSIVE EPILEPSY"^^xsd:string) AnnotationAssertion( "DECAM"^^xsd:string) AnnotationAssertion( "DEE76"^^xsd:string) AnnotationAssertion( "EIEE76"^^xsd:string) AnnotationAssertion( "developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination"^^xsd:string) AnnotationAssertion( "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112212"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 76"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple congenital anomalies-hypotonia-seizures syndrome 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31148362/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32588908/"^^xsd:string) "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:39:11Z"^^xsd:string) AnnotationAssertion( "MIM:618548"^^xsd:string) AnnotationAssertion( "DEE77"^^xsd:string) AnnotationAssertion( "EIEE77"^^xsd:string) AnnotationAssertion( "GPIBD19"^^xsd:string) AnnotationAssertion( "MCAHS4"^^xsd:string) AnnotationAssertion( "developmental and epileptic encephalopathy 77"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 77"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112213"^^xsd:string) AnnotationAssertion(rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 78) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29422393/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29961870/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:44:11Z"^^xsd:string) AnnotationAssertion( "GABRA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618557"^^xsd:string) AnnotationAssertion( "DEE78"^^xsd:string) AnnotationAssertion( "EIEE78"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 78"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112214"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 78"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 79) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29961870/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31056671/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:48:11Z"^^xsd:string) AnnotationAssertion( "MIM:618559"^^xsd:string) AnnotationAssertion( "DEE79"^^xsd:string) AnnotationAssertion( "EIEE79"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112215"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 79"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 80) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31256876/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:52:11Z"^^xsd:string) AnnotationAssertion( "MIM:618580"^^xsd:string) AnnotationAssertion( "DEE80"^^xsd:string) AnnotationAssertion( "EIEE80"^^xsd:string) AnnotationAssertion( "GPIBD20"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 80"^^xsd:string) AnnotationAssertion( "glycophosphatidylinositol biosynthesis defect 20"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112216"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 80"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 81) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30237576/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31688942/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T21:56:11Z"^^xsd:string) AnnotationAssertion( "MIM:618663"^^xsd:string) AnnotationAssertion( "DEE81"^^xsd:string) AnnotationAssertion( "EIEE81"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112217"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 81"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 83) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31820119/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:00:11Z"^^xsd:string) AnnotationAssertion( "MIM:618744"^^xsd:string) AnnotationAssertion( "Barakat-Perenthaler syndrome"^^xsd:string) AnnotationAssertion( "DEE83"^^xsd:string) AnnotationAssertion( "EIEE83"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112218"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 83"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 84) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32001716/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:04:11Z"^^xsd:string) AnnotationAssertion( "MIM:618792"^^xsd:string) AnnotationAssertion( "DEE84"^^xsd:string) AnnotationAssertion( "EIEE84"^^xsd:string) AnnotationAssertion( "Jamuar syndrome"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112219"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 84"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 86) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32427860/"^^xsd:string) "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:07:11Z"^^xsd:string) AnnotationAssertion( "MIM:618910"^^xsd:string) AnnotationAssertion( "DEE86"^^xsd:string) AnnotationAssertion( "EIEE86"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 86"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112220"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 86"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 87) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32330417/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:11:11Z"^^xsd:string) AnnotationAssertion( "MIM:618916"^^xsd:string) AnnotationAssertion( "DEE87"^^xsd:string) AnnotationAssertion( "EIEE87"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 87"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112221"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 87"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 88) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31538237/"^^xsd:string) "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:15:11Z"^^xsd:string) AnnotationAssertion( "MIM:618959"^^xsd:string) AnnotationAssertion( "DEE88"^^xsd:string) AnnotationAssertion( "EIEE88"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112222"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 88"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 89) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32282878/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:22:11Z"^^xsd:string) AnnotationAssertion( "MIM:619124"^^xsd:string) AnnotationAssertion( "DEE89"^^xsd:string) AnnotationAssertion( "early infantile epileptic encephalopathy 89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112223"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 89"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chondrodysplasia with joint dislocations gPAPP type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21549340/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22887726/"^^xsd:string) "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T13:07:42Z"^^xsd:string) AnnotationAssertion( "GARD:11009"^^xsd:string) AnnotationAssertion( "MIM:614078"^^xsd:string) AnnotationAssertion( "MONDO:0013561"^^xsd:string) AnnotationAssertion( "ORDO:280586"^^xsd:string) AnnotationAssertion( "GPAPP deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112224"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia with joint dislocations gPAPP type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BH4-deficient hyperphenylalaninemia B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7869202/"^^xsd:string) "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:30:11Z"^^xsd:string) AnnotationAssertion( "MIM:233910"^^xsd:string) AnnotationAssertion( "MESH:C562656"^^xsd:string) AnnotationAssertion( "NCI:C141442"^^xsd:string) AnnotationAssertion( "ORDO:2102"^^xsd:string) AnnotationAssertion( "GTP Cyclohydrolase I Deficiency"^^xsd:string) AnnotationAssertion( "GTP cyclohydrolase 1 deficiency"^^xsd:string) AnnotationAssertion( "HPABH4B"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin-deficient hyperphenylalaninemia B"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency"^^xsd:string) AnnotationAssertion( "DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112225"^^xsd:string) AnnotationAssertion(rdfs:label "BH4-deficient hyperphenylalaninemia B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bosch-Boonstra-Schaaf optic atrophy syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24462372/"^^xsd:string) "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-18T11:48:34Z"^^xsd:string) AnnotationAssertion( "DOID:9002038"^^xsd:string) AnnotationAssertion( "MIM:615722"^^xsd:string) AnnotationAssertion( "ORDO:401777"^^xsd:string) AnnotationAssertion( "BBSOAS"^^xsd:string) AnnotationAssertion( "optic atrophy-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Bosch-Boonstra optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "DOID:0112226"^^xsd:string) AnnotationAssertion(rdfs:label "Bosch-Boonstra-Schaaf optic atrophy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tubulinopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24860126/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31386652/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK350554/"^^xsd:string) "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0020030"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112227"^^xsd:string) AnnotationAssertion(rdfs:label "tubulinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 9 with complex brainstem malformation) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24507697/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30471716/"^^xsd:string) "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9005346"^^xsd:string) AnnotationAssertion( "MIM:618325"^^xsd:string) AnnotationAssertion( "ORDO:572013"^^xsd:string) AnnotationAssertion( "LIS9"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY WITH BRAINSTEM HYPOPLASIA"^^xsd:string) AnnotationAssertion( "MACF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPECTRAPLAKINOPATHY TYPE I"^^xsd:string) AnnotationAssertion( "lissencephaly 9"^^xsd:string) AnnotationAssertion( "lissencephaly with decussation defect"^^xsd:string) AnnotationAssertion( "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112228"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 9 with complex brainstem malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32097630/"^^xsd:string) "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T19:36:11Z"^^xsd:string) AnnotationAssertion( "DOID:9006184"^^xsd:string) AnnotationAssertion( "MIM:618873"^^xsd:string) AnnotationAssertion( "LIS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112229"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23472759/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25925986/"^^xsd:string) "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T19:39:11Z"^^xsd:string) AnnotationAssertion( "DOID:9004164"^^xsd:string) AnnotationAssertion( "MIM:615191"^^xsd:string) AnnotationAssertion( "LAMB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LIS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112230"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 7 with cerebellar hypoplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25560765/"^^xsd:string) "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T19:42:11Z"^^xsd:string) AnnotationAssertion( "DOID:9002648"^^xsd:string) AnnotationAssertion( "MIM:616342"^^xsd:string) AnnotationAssertion( "LIS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112231"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 7 with cerebellar hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17218254/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30744660/"^^xsd:string) "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T19:45:11Z"^^xsd:string) AnnotationAssertion( "DOID:9000102"^^xsd:string) AnnotationAssertion( "MIM:611603"^^xsd:string) AnnotationAssertion( "TUBULINOPATHIES"^^xsd:string) AnnotationAssertion( "TUBULINOPATHY"^^xsd:string) AnnotationAssertion( "MESH:C566908"^^xsd:string) AnnotationAssertion( "NCI:C148461"^^xsd:string) AnnotationAssertion( "ORDO:171680"^^xsd:string) AnnotationAssertion( "LIS3"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY DUE TO TUBA1A MUTATION"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY TYPE 3"^^xsd:string) AnnotationAssertion( "TUBA1A-ASSOCIATED TUBULINOPATHY"^^xsd:string) AnnotationAssertion( "TUBA1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TUBULINOPATHY-ASSOCIATED DYSGYRIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112232"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27773428/"^^xsd:string) "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T19:49:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003247"^^xsd:string) AnnotationAssertion( "MIM:617255"^^xsd:string) AnnotationAssertion( "LIS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112233"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microlissencephaly) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9588537/"^^xsd:string) "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:1083"^^xsd:string) AnnotationAssertion( "microlissencephalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112234"^^xsd:string) AnnotationAssertion(rdfs:label "microlissencephaly"^^xsd:string) SubClassOf( ) # Class: (lissencephaly 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21529751/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21529752/"^^xsd:string) "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T20:01:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008921"^^xsd:string) AnnotationAssertion( "MIM:614019"^^xsd:string) AnnotationAssertion( "LIS4"^^xsd:string) AnnotationAssertion( "lissencephaly 4 with microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112235"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25521378/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25521379/"^^xsd:string) "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9008089"^^xsd:string) AnnotationAssertion( "MIM:616212"^^xsd:string) AnnotationAssertion( "KATNB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LIS6"^^xsd:string) AnnotationAssertion( "lissencephaly 6 with microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112236"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lissencephaly 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11754098/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12668601/"^^xsd:string) "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "PAFAH1B1-ASSOCIATED LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA"^^xsd:string) AnnotationAssertion( "PAFAH1B1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:607432"^^xsd:string) AnnotationAssertion( "ORDO:95232"^^xsd:string) AnnotationAssertion( "ILS"^^xsd:string) AnnotationAssertion( "LIS1"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY SEQUENCE, ISOLATED"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY, CLASSIC"^^xsd:string) AnnotationAssertion( "PAFAH1B1-related lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SBH"^^xsd:string) AnnotationAssertion( "SCLH"^^xsd:string) AnnotationAssertion( "SUBCORTICAL BAND HETEROTOPIA"^^xsd:string) AnnotationAssertion( "SUBCORTICAL LAMINAR HETEROTOPIA"^^xsd:string) AnnotationAssertion( "DOID:0112237"^^xsd:string) AnnotationAssertion(rdfs:label "lissencephaly 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked lissencephaly 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11891829/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/12379852/"^^xsd:string) "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:07:11Z"^^xsd:string) AnnotationAssertion( "DOID:9006520"^^xsd:string) AnnotationAssertion( "MIM:300215"^^xsd:string) AnnotationAssertion( "MESH:C564563"^^xsd:string) AnnotationAssertion( "ORDO:452"^^xsd:string) AnnotationAssertion( "LISX2"^^xsd:string) AnnotationAssertion( "X-linked lissencephaly with abnormal genitalia"^^xsd:string) AnnotationAssertion( "X-linked lissencephaly with ambiguous genitalia"^^xsd:string) AnnotationAssertion( "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome"^^xsd:string) AnnotationAssertion( "XLAG"^^xsd:string) AnnotationAssertion( "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome"^^xsd:string) AnnotationAssertion( "XLIS2"^^xsd:string) AnnotationAssertion( "XLISG"^^xsd:string) AnnotationAssertion( "hydranencephaly and abnormal genitalia"^^xsd:string) AnnotationAssertion( "hydranencephaly with abnormal genitalia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112238"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lissencephaly 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked lissencephaly 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9132485/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9489699/"^^xsd:string) "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:11:11Z"^^xsd:string) AnnotationAssertion( "MIM:300067"^^xsd:string) AnnotationAssertion( "LISX1"^^xsd:string) AnnotationAssertion( "Lissencephaly 1"^^xsd:string) AnnotationAssertion( "Lissencephaly Type 1"^^xsd:string) AnnotationAssertion( "XLIS1"^^xsd:string) AnnotationAssertion( "lissencephalies type 1"^^xsd:string) AnnotationAssertion( "lissencephaly type 1 due to doublecortin gene mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112239"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked lissencephaly 1"^^xsd:string) SubClassOf( ) # Class: (Leber congenital amaurosis with early-onset deafness) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29198720/"^^xsd:string) "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9009120"^^xsd:string) AnnotationAssertion( "MIM:617879"^^xsd:string) AnnotationAssertion( "LCAEOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112240"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis with early-onset deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple benign circumferential skin creases on limbs) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string) "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9002281"^^xsd:string) AnnotationAssertion( "GARD:3589"^^xsd:string) AnnotationAssertion( "MESH:C537575"^^xsd:string) AnnotationAssertion( "MIM:PS156610"^^xsd:string) AnnotationAssertion( "ORDO:2505"^^xsd:string) AnnotationAssertion( "CCSF"^^xsd:string) AnnotationAssertion( "CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE"^^xsd:string) AnnotationAssertion( "Congenital Symmetric Circumferential Skin Creases"^^xsd:string) AnnotationAssertion( "Kunze Riehm syndrome"^^xsd:string) AnnotationAssertion( "Michelin Tire Baby Syndrome"^^xsd:string) AnnotationAssertion( "congenital circumferential skin folds"^^xsd:string) AnnotationAssertion( "multiple benign ring-shaped skin creases of limbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112241"^^xsd:string) AnnotationAssertion(rdfs:label "multiple benign circumferential skin creases on limbs"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital symmetric circumferential skin creases 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string) "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:24:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005935"^^xsd:string) AnnotationAssertion( "TUBB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:156610"^^xsd:string) AnnotationAssertion( "CSCSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112242"^^xsd:string) AnnotationAssertion(rdfs:label "congenital symmetric circumferential skin creases 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital symmetric circumferential skin creases 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26637975/"^^xsd:string) "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:29:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008922"^^xsd:string) AnnotationAssertion( "MIM:616734"^^xsd:string) AnnotationAssertion( "CSCSC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112243"^^xsd:string) AnnotationAssertion(rdfs:label "congenital symmetric circumferential skin creases 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alopecia, neurologic defects, and endocrinopathy syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18439547/"^^xsd:string) "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:33:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003428"^^xsd:string) AnnotationAssertion( "MIM:612079"^^xsd:string) AnnotationAssertion( "MESH:C567425"^^xsd:string) AnnotationAssertion( "ORDO:157954"^^xsd:string) AnnotationAssertion( "ANE Syndrome"^^xsd:string) AnnotationAssertion( "ANES"^^xsd:string) AnnotationAssertion( "alopecia-progressive neurological defect-endocrinopathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112244"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia, neurologic defects, and endocrinopathy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12764198/"^^xsd:string) "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:36:11Z"^^xsd:string) AnnotationAssertion( "DOID:9000237"^^xsd:string) AnnotationAssertion( "MIM:607832"^^xsd:string) AnnotationAssertion( "CD2AP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FSGS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "focal segmental glomerulosclerosis 3, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:0112245"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glutaric acidemia type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23893049/"^^xsd:string) "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:40:11Z"^^xsd:string) AnnotationAssertion( "DOID:9004214"^^xsd:string) AnnotationAssertion( "MIM:231690"^^xsd:string) AnnotationAssertion( "GARD:12469"^^xsd:string) AnnotationAssertion( "MESH:C562818"^^xsd:string) AnnotationAssertion( "ORDO:35706"^^xsd:string) AnnotationAssertion( "GA III"^^xsd:string) AnnotationAssertion( "GA3"^^xsd:string) AnnotationAssertion( "Glutaric Aciduria III"^^xsd:string) AnnotationAssertion( "Glutaryl-CoA Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "glutaric aciduria 3"^^xsd:string) AnnotationAssertion( "glutaric aciduria type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112246"^^xsd:string) AnnotationAssertion(rdfs:label "glutaric acidemia type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital heart defects, dysmorphic facial features, and intellectual developmental disorder) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27479907/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29021403/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK536784/"^^xsd:string) "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:44:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003115"^^xsd:string) AnnotationAssertion( "MIM:617360"^^xsd:string) AnnotationAssertion( "CDK13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CDK13-Related CHDFIDD"^^xsd:string) AnnotationAssertion( "CDK13-Related Disorder"^^xsd:string) AnnotationAssertion( "CHDFIDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112247"^^xsd:string) AnnotationAssertion(rdfs:label "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (17-beta hydroxysteroid dehydrogenase 3 deficiency) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11158067/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8550739/"^^xsd:string) "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:54:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005168"^^xsd:string) AnnotationAssertion( "MIM:264300"^^xsd:string) AnnotationAssertion( "GARD:5659"^^xsd:string) AnnotationAssertion( "MESH:C537805"^^xsd:string) AnnotationAssertion( "NCI:C120203"^^xsd:string) AnnotationAssertion( "ORDO:752"^^xsd:string) AnnotationAssertion( "17 Beta-hydroxysteroid dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "17 alpha ketosteroid reductase deficiency of testis"^^xsd:string) AnnotationAssertion( "17-Beta Hydroxysteroid Dehydrogenase III Deficiency"^^xsd:string) AnnotationAssertion( "17-Hydroxysteroid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "17-Ketosteroid Reductase Deficiency Of Testis"^^xsd:string) AnnotationAssertion( "17-Ksr Deficiency"^^xsd:string) AnnotationAssertion( "17-ketoreductase deficiency"^^xsd:string) AnnotationAssertion( "17-ketosteroidreductase deficiency"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string) AnnotationAssertion( "Male pseudohermaphroditism with gynecomastia"^^xsd:string) AnnotationAssertion( "Neutral 17 beta-hydroxysteroid oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "DOID:0112248"^^xsd:string) AnnotationAssertion(rdfs:label "17-beta hydroxysteroid dehydrogenase 3 deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GAPO syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25045128/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6507471/"^^xsd:string) "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:57:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008322"^^xsd:string) AnnotationAssertion( "MIM:230740"^^xsd:string) AnnotationAssertion( "MESH:C535642"^^xsd:string) AnnotationAssertion( "ORDO:2067"^^xsd:string) AnnotationAssertion( "GAPOS"^^xsd:string) AnnotationAssertion( "Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy"^^xsd:string) AnnotationAssertion( "Odontotrichomelic Syndrome"^^xsd:string) AnnotationAssertion( "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112249"^^xsd:string) AnnotationAssertion(rdfs:label "GAPO syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gaucher's disease type IIIC) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10636167/"^^xsd:string) "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T22:00:11Z"^^xsd:string) AnnotationAssertion( "DOID:9007825"^^xsd:string) AnnotationAssertion( "MIM:231005"^^xsd:string) AnnotationAssertion( "MESH:C565553"^^xsd:string) AnnotationAssertion( "ORDO:2072"^^xsd:string) AnnotationAssertion( "GD3C"^^xsd:string) AnnotationAssertion( "Gaucher Disease, Type IIIc"^^xsd:string) AnnotationAssertion( "Gaucher disease type 3C"^^xsd:string) AnnotationAssertion( "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"^^xsd:string) AnnotationAssertion( "cardiovascular Gaucher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112250"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease type IIIC"^^xsd:string) SubClassOf( ) # Class: (Ghosal hematodiaphyseal syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/18264100/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3385529/"^^xsd:string) "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:03:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003776"^^xsd:string) AnnotationAssertion( "MIM:231095"^^xsd:string) AnnotationAssertion( "GARD:10297"^^xsd:string) AnnotationAssertion( "MESH:C565551"^^xsd:string) AnnotationAssertion( "ORDO:1802"^^xsd:string) AnnotationAssertion( "GHDD"^^xsd:string) AnnotationAssertion( "Ghosal Hematodiaphyseal Dysplasia"^^xsd:string) AnnotationAssertion( "Ghosal Syndrome"^^xsd:string) AnnotationAssertion( "TBXAS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "diaphyseal dysplasia-anemia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112251"^^xsd:string) AnnotationAssertion(rdfs:label "Ghosal hematodiaphyseal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glutathione synthetase deficiency of erythrocytes) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/5476481/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/659603/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8896573/"^^xsd:string) "A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:06:11Z"^^xsd:string) AnnotationAssertion( "DOID:9006583"^^xsd:string) AnnotationAssertion( "MIM:231900"^^xsd:string) AnnotationAssertion( "MESH:C565545"^^xsd:string) AnnotationAssertion( "ORDO:289849"^^xsd:string) AnnotationAssertion( "GSSDE"^^xsd:string) AnnotationAssertion( "glutathione synthetase deficiency without 5-oxoprolinuria"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to glutathione synthetase deficiency"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to glutathione synthetase deficiency of erythrocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112252"^^xsd:string) AnnotationAssertion(rdfs:label "glutathione synthetase deficiency of erythrocytes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combined cellular and humoral immune defects with granulomas) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18463379/"^^xsd:string) "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:09:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008188"^^xsd:string) AnnotationAssertion( "MIM:233650"^^xsd:string) AnnotationAssertion( "GARD:13587"^^xsd:string) AnnotationAssertion( "MESH:C567115"^^xsd:string) AnnotationAssertion( "ORDO:157949"^^xsd:string) AnnotationAssertion( "CCHIDG"^^xsd:string) AnnotationAssertion( "CID due to RAG 1/2 deficiency"^^xsd:string) AnnotationAssertion( "COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS"^^xsd:string) AnnotationAssertion( "combined immunodeficiency due to RAG 1/2 deficiency"^^xsd:string) AnnotationAssertion( "combined immunodeficiency with granulomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112253"^^xsd:string) AnnotationAssertion(rdfs:label "combined cellular and humoral immune defects with granulomas"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hepatic venoocclusive disease with immunodeficiency) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16648851/"^^xsd:string) "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:13:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008664"^^xsd:string) AnnotationAssertion( "MIM:235550"^^xsd:string) AnnotationAssertion( "GARD:10083"^^xsd:string) AnnotationAssertion( "MESH:C537257"^^xsd:string) AnnotationAssertion( "ORDO:79124"^^xsd:string) AnnotationAssertion( "Familial Veno-Occlusive Disease with Immunodeficiency"^^xsd:string) AnnotationAssertion( "Hepatic Veno-Occlusive Disease with Immunodeficiency"^^xsd:string) AnnotationAssertion( "VODI"^^xsd:string) AnnotationAssertion( "Veno-Occlusive Disease and Immunodeficiency Syndrome"^^xsd:string) AnnotationAssertion( "hepatic veno-occlusive disease-immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112254"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic venoocclusive disease with immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (homocystinuria-megaloblastic anemia cblE type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3384945/"^^xsd:string) "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:17:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005758"^^xsd:string) AnnotationAssertion( "MIM:236270"^^xsd:string) AnnotationAssertion( "MESH:C565510"^^xsd:string) AnnotationAssertion( "NCI:C142173"^^xsd:string) AnnotationAssertion( "ORDO:2169"^^xsd:string) AnnotationAssertion( "HMAE"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE"^^xsd:string) AnnotationAssertion( "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type"^^xsd:string) AnnotationAssertion( "Methylcobalamin Deficiency, CblE Type"^^xsd:string) AnnotationAssertion( "Vitamin B12-Responsive Homocystinuria, CblE Type"^^xsd:string) AnnotationAssertion( "functional methionine synthase deficiency type cblE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112255"^^xsd:string) AnnotationAssertion(rdfs:label "homocystinuria-megaloblastic anemia cblE type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (homocystinuria-megaloblastic anemia cblG type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3384945/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8968737/"^^xsd:string) "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T21:20:11Z"^^xsd:string) AnnotationAssertion( "GARD:3577"^^xsd:string) AnnotationAssertion( "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type"^^xsd:string) AnnotationAssertion( "methylcobalamin deficiency, cblG type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112256"^^xsd:string) AnnotationAssertion(rdfs:label "homocystinuria-megaloblastic anemia cblG type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hydroxykynureninuria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17334708/"^^xsd:string) "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T22:30:11Z"^^xsd:string) AnnotationAssertion( "DOID:9002475"^^xsd:string) AnnotationAssertion( "MIM:236800"^^xsd:string) AnnotationAssertion( "GARD:10039"^^xsd:string) AnnotationAssertion( "MESH:C536081"^^xsd:string) AnnotationAssertion( "ORDO:79155"^^xsd:string) AnnotationAssertion( "KYNURENINASE DEFICIENCY, PARTIAL"^^xsd:string) AnnotationAssertion( "kynureninase deficiency"^^xsd:string) AnnotationAssertion( "xanthurenic aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112257"^^xsd:string) AnnotationAssertion(rdfs:label "hydroxykynureninuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (N-acetylglutamate synthase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12594532/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3139931/"^^xsd:string) "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T22:34:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005654"^^xsd:string) AnnotationAssertion( "MIM:237310"^^xsd:string) AnnotationAssertion( "GARD:7158"^^xsd:string) AnnotationAssertion( "MESH:C536109"^^xsd:string) AnnotationAssertion( "NCI:C129307"^^xsd:string) AnnotationAssertion( "ORDO:927"^^xsd:string) AnnotationAssertion( "Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency"^^xsd:string) AnnotationAssertion( "N-Acetyl Glutamate Synthetase Deficiency"^^xsd:string) AnnotationAssertion( "N-Acetylglutamate Synthetase Deficiency"^^xsd:string) AnnotationAssertion( "NAG synthetase deficiency"^^xsd:string) AnnotationAssertion( "NAGS deficiency"^^xsd:string) AnnotationAssertion( "NAGSD"^^xsd:string) AnnotationAssertion( "hyperammonemia due to N-acetylglutamate synthase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112258"^^xsd:string) AnnotationAssertion(rdfs:label "N-acetylglutamate synthase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leydig cell hypoplasia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7719343/"^^xsd:string) "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T22:42:11Z"^^xsd:string) AnnotationAssertion( "DOID:9001157"^^xsd:string) AnnotationAssertion( "MIM:238320"^^xsd:string) AnnotationAssertion( "GARD:3244"^^xsd:string) AnnotationAssertion( "MESH:C562567"^^xsd:string) AnnotationAssertion( "ORDO:755"^^xsd:string) AnnotationAssertion( "46,XY DSD due to LH resistance or LHB deficiency"^^xsd:string) AnnotationAssertion( "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string) AnnotationAssertion( "46,XY Disorder of Sex Development Due To LH Defects"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to LH resistance or LHB deficiency"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"^^xsd:string) AnnotationAssertion( "LH Resistance Due To LH Receptor Deactivation"^^xsd:string) AnnotationAssertion( "Leydig Cell Agenesis"^^xsd:string) AnnotationAssertion( "Leydig Cell Hypoplasia with Male Pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "Male Hypergonadotropic Hypogonadism Due To LHCGR Defect"^^xsd:string) AnnotationAssertion( "LUTEINIZING HORMONE RESISTANCE, FEMALE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112259"^^xsd:string) AnnotationAssertion(rdfs:label "Leydig cell hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leydig cell hypoplasia type I) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10714363/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11041448/"^^xsd:string) "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:32:11Z"^^xsd:string) AnnotationAssertion( "ORDO:96265"^^xsd:string) AnnotationAssertion( "46,XY DSD due to complete LH receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY DSD due to complete LH resistance"^^xsd:string) AnnotationAssertion( "46,XY DSD due to complete luteinizing hormone receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY DSD due to complete luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to complete LH receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to complete LH resistance"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to complete luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "LEYDIG HYPOPLASIA, TYPE I"^^xsd:string) AnnotationAssertion( "Leydig Cell Hypoplasia, Complete"^^xsd:string) AnnotationAssertion( "Leydig Cell Hypoplasia, Type 1"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to complete LH receptor inactivation"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to complete luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112260"^^xsd:string) AnnotationAssertion(rdfs:label "Leydig cell hypoplasia type I"^^xsd:string) SubClassOf( ) # Class: (Leydig cell hypoplasia type II) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11041448/"^^xsd:string) "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:36:11Z"^^xsd:string) AnnotationAssertion( "ORDO:96266"^^xsd:string) AnnotationAssertion( "46,XY DSD due to partial LH receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY DSD due to partial LH resistance"^^xsd:string) AnnotationAssertion( "46,XY DSD due to partial luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to partial LH receptor inactivation"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to partial LH resistance"^^xsd:string) AnnotationAssertion( "46,XY disorder of sex development due to partial luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "LEYDIG CELL HYPOPLASIA, PARTIAL"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to partial LH receptor inactivation"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to partial LH resistance"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation"^^xsd:string) AnnotationAssertion( "Leydig cell hypoplasia due to partial luteinizing hormone resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112261"^^xsd:string) AnnotationAssertion(rdfs:label "Leydig cell hypoplasia type II"^^xsd:string) SubClassOf( ) # Class: (leucine-sensitive hypoglycemia of infancy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15356046/"^^xsd:string) "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:41:11Z"^^xsd:string) AnnotationAssertion( "DOID:9004440"^^xsd:string) AnnotationAssertion( "MIM:240800"^^xsd:string) AnnotationAssertion( "EFO:0006856"^^xsd:string) AnnotationAssertion( "GARD:9915"^^xsd:string) AnnotationAssertion( "MESH:C537150"^^xsd:string) AnnotationAssertion( "LIH"^^xsd:string) AnnotationAssertion( "leucine-induced hypoglycemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112262"^^xsd:string) AnnotationAssertion(rdfs:label "leucine-sensitive hypoglycemia of infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoinsulinemic hypoglycemia with hemihypertrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21979934/"^^xsd:string) "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:45:11Z"^^xsd:string) AnnotationAssertion( "DOID:9001032"^^xsd:string) AnnotationAssertion( "MIM:240900"^^xsd:string) AnnotationAssertion( "ORDO:293964"^^xsd:string) AnnotationAssertion( "HIHGHH"^^xsd:string) AnnotationAssertion( "HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY"^^xsd:string) AnnotationAssertion( "hypoinsulinemic hypoglycemia and body hemihypertrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112263"^^xsd:string) AnnotationAssertion(rdfs:label "hypoinsulinemic hypoglycemia with hemihypertrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Woodhouse-Sakati syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19026396/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6876115/"^^xsd:string) "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:49:11Z"^^xsd:string) AnnotationAssertion( "DOID:9007524"^^xsd:string) AnnotationAssertion( "MIM:241080"^^xsd:string) AnnotationAssertion( "GARD:5592"^^xsd:string) AnnotationAssertion( "MESH:C536742"^^xsd:string) AnnotationAssertion( "ORDO:3464"^^xsd:string) AnnotationAssertion( "WDSKS"^^xsd:string) AnnotationAssertion( "diabetes-hypogonadism-deafness-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "diabetes-hypogonadism-hearing loss-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome"^^xsd:string) AnnotationAssertion( "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome"^^xsd:string) AnnotationAssertion( "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia"^^xsd:string) AnnotationAssertion( "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112264"^^xsd:string) AnnotationAssertion(rdfs:label "Woodhouse-Sakati syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (iminoglycinuria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19033659/"^^xsd:string) "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:53:11Z"^^xsd:string) AnnotationAssertion( "DOID:9007948"^^xsd:string) AnnotationAssertion( "MIM:242600"^^xsd:string) AnnotationAssertion( "GARD:8424"^^xsd:string) AnnotationAssertion( "MESH:C536285"^^xsd:string) AnnotationAssertion( "ORDO:42062"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112265"^^xsd:string) AnnotationAssertion(rdfs:label "iminoglycinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 23) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31472902/"^^xsd:string) "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:56:11Z"^^xsd:string) AnnotationAssertion( "DOID:9005998"^^xsd:string) AnnotationAssertion( "MIM:619201"^^xsd:string) AnnotationAssertion( "KIRREL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NPHS23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112266"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 23"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 21) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29058690/"^^xsd:string) "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-29T23:59:11Z"^^xsd:string) AnnotationAssertion( "DOID:9001780"^^xsd:string) AnnotationAssertion( "MIM:618594"^^xsd:string) AnnotationAssertion( "NPHS21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112267"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotic syndrome type 22) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33523862/"^^xsd:string) "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T00:03:11Z"^^xsd:string) AnnotationAssertion( "DOID:9006110"^^xsd:string) AnnotationAssertion( "MIM:619155"^^xsd:string) AnnotationAssertion( "NPHS22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112268"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome type 22"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 18) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33508233/"^^xsd:string) "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T07:58:11Z"^^xsd:string) AnnotationAssertion( "DOID:9002167"^^xsd:string) AnnotationAssertion( "MIM:619203"^^xsd:string) AnnotationAssertion( "POF18"^^xsd:string) AnnotationAssertion( "premature ovarian failure 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112269"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 18"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 52) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33508233/"^^xsd:string) "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T08:01:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008964"^^xsd:string) AnnotationAssertion( "MIM:619202"^^xsd:string) AnnotationAssertion( "SPGF52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112270"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 52"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 49) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32791035/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T08:06:11Z"^^xsd:string) AnnotationAssertion( "DOID:9003200"^^xsd:string) AnnotationAssertion( "MIM:619144"^^xsd:string) AnnotationAssertion( "SPGF49"^^xsd:string) AnnotationAssertion( "SPGF98"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112271"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 49"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 50) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30042186/"^^xsd:string) "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T08:09:11Z"^^xsd:string) AnnotationAssertion( "DOID:9006198"^^xsd:string) AnnotationAssertion( "MIM:619145"^^xsd:string) AnnotationAssertion( "SPGF50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112272"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 50"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 51) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32161152/"^^xsd:string) "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-30T08:12:11Z"^^xsd:string) AnnotationAssertion( "DOID:9008842"^^xsd:string) AnnotationAssertion( "MIM:619177"^^xsd:string) AnnotationAssertion( "SPGF51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112273"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 51"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked spermatogenic failure 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33472045/"^^xsd:string) "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9007466"^^xsd:string) AnnotationAssertion( "MIM:301059"^^xsd:string) AnnotationAssertion( "SPGFX3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112274"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked spermatogenic failure 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (developmental and epileptic encephalopathy 93) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29668857/"^^xsd:string) "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:14:36Z"^^xsd:string) AnnotationAssertion( "DOID:9008555"^^xsd:string) AnnotationAssertion( "MIM:618012"^^xsd:string) AnnotationAssertion( "DEE93"^^xsd:string) AnnotationAssertion( "IECEE3"^^xsd:string) AnnotationAssertion( "infantile or early childhood epileptic encephalopathy 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112275"^^xsd:string) AnnotationAssertion(rdfs:label "developmental and epileptic encephalopathy 93"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with involuntary movements) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27068059/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28357411/"^^xsd:string) "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:16:35Z"^^xsd:string) AnnotationAssertion( "DOID:9001978"^^xsd:string) AnnotationAssertion( "GNAO1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617493"^^xsd:string) AnnotationAssertion( "NEDIM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112276"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with involuntary movements"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (immunodeficiency 79) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31781092/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33471124/"^^xsd:string) "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:19:01Z"^^xsd:string) AnnotationAssertion( "MIM:619238"^^xsd:string) AnnotationAssertion( "IMD79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112277"^^xsd:string) AnnotationAssertion(rdfs:label "immunodeficiency 79"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency 19) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32845237/"^^xsd:string) "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:22:42Z"^^xsd:string) AnnotationAssertion( "DOID:9000665"^^xsd:string) AnnotationAssertion( "MIM:619245"^^xsd:string) AnnotationAssertion( "MONDO:0030985"^^xsd:string) AnnotationAssertion( "POF19"^^xsd:string) AnnotationAssertion( "POI19"^^xsd:string) AnnotationAssertion( "premature ovarian failure 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112278"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency 19"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 53) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33626338/"^^xsd:string) "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:25:15Z"^^xsd:string) AnnotationAssertion( "DOID:9008411"^^xsd:string) AnnotationAssertion( "MIM:619258"^^xsd:string) AnnotationAssertion( "SPGF53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112279"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia) AnnotationAssertion(Annotation( "https://emedicine.medscape.com/article/1260836-overview"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16080123/"^^xsd:string) "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T17:38:06Z"^^xsd:string) AnnotationAssertion( "GARD:7687"^^xsd:string) AnnotationAssertion( "MONDO:0016761"^^xsd:string) AnnotationAssertion( "ORDO:253"^^xsd:string) AnnotationAssertion( "SED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112280"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia"^^xsd:string) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia Stanescu type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26183434/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/6430256/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9592900/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:28:17Z"^^xsd:string) AnnotationAssertion( "DOID:9004463"^^xsd:string) AnnotationAssertion( "MIM:616583"^^xsd:string) AnnotationAssertion( "ORDO:459051"^^xsd:string) AnnotationAssertion( "SED, STANESCU TYPE"^^xsd:string) AnnotationAssertion( "SEDSTN"^^xsd:string) AnnotationAssertion( "Stanescu type of spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112281"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia Stanescu type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia Kimberley type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16080123/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/1978986/"^^xsd:string) "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:30:13Z"^^xsd:string) AnnotationAssertion( "DOID:9002341"^^xsd:string) AnnotationAssertion( "MIM:608361"^^xsd:string) AnnotationAssertion( "MESH:C564252"^^xsd:string) AnnotationAssertion( "ORDO:93283"^^xsd:string) AnnotationAssertion( "SEDK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112282"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia Kimberley type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia Kondo-Fu type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30046013/"^^xsd:string) "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:32:04Z"^^xsd:string) AnnotationAssertion( "DOID:9003246"^^xsd:string) AnnotationAssertion( "EFO:0010168"^^xsd:string) AnnotationAssertion( "MIM:618392"^^xsd:string) AnnotationAssertion( "SED with elevated blood lysosomal enzymes"^^xsd:string) AnnotationAssertion( "SEDKF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112283"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia Kondo-Fu type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia tarda) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3213464/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T19:04:40Z"^^xsd:string) AnnotationAssertion( "ORDO:93284"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112284"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia tarda"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant spondyloepiphyseal dysplasia tarda) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1353665/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3213464/"^^xsd:string) "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:34:15Z"^^xsd:string) AnnotationAssertion( "DOID:9007036"^^xsd:string) AnnotationAssertion( "MIM:184100"^^xsd:string) AnnotationAssertion( "GARD:10624"^^xsd:string) AnnotationAssertion( "MESH:C566658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112285"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant spondyloepiphyseal dysplasia tarda"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia with punctate corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/414988/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:36:28Z"^^xsd:string) AnnotationAssertion( "DOID:9000649"^^xsd:string) AnnotationAssertion( "MIM:183850"^^xsd:string) AnnotationAssertion( "MESH:C566660"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112286"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia with punctate corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia-brachydactyly and distinctive speech) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17515304/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:38:37Z"^^xsd:string) AnnotationAssertion( "DOID:9005310"^^xsd:string) AnnotationAssertion( "MIM:611717"^^xsd:string) AnnotationAssertion( "GARD:10629"^^xsd:string) AnnotationAssertion( "MESH:C567128"^^xsd:string) AnnotationAssertion( "ORDO:163654"^^xsd:string) AnnotationAssertion( "Fantasy Island Syndrome"^^xsd:string) AnnotationAssertion( "SED-BDS"^^xsd:string) AnnotationAssertion( "SED-brachydactyly and distinctive speech"^^xsd:string) AnnotationAssertion( "Tattoo Dysplasia"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, Cantu type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112287"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia Nishimura type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30804514/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:41:05Z"^^xsd:string) AnnotationAssertion( "DOID:9007564"^^xsd:string) AnnotationAssertion( "MIM:618618"^^xsd:string) AnnotationAssertion( "SEDN"^^xsd:string) AnnotationAssertion( "SPONDYLOEPIPHYSEAL DYSPLASIA MIR140 TYPE NISHIMURA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112288"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia Nishimura type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia tarda with characteristic facies) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8298734/"^^xsd:string) "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:42:51Z"^^xsd:string) AnnotationAssertion( "DOID:9008185"^^xsd:string) AnnotationAssertion( "MIM:600093"^^xsd:string) AnnotationAssertion( "MESH:C564003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112289"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia tarda with characteristic facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32533184/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33668384/"^^xsd:string) "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:44:47Z"^^xsd:string) AnnotationAssertion( "DOID:9001252"^^xsd:string) AnnotationAssertion( "MIM:619260"^^xsd:string) AnnotationAssertion( "SHILCA"^^xsd:string) AnnotationAssertion( "SHILCA Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112290"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14755466/"^^xsd:string) "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:48:28Z"^^xsd:string) AnnotationAssertion( "DOID:9000095"^^xsd:string) AnnotationAssertion( "MIM:609223"^^xsd:string) AnnotationAssertion( "MESH:C563772"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112291"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia tarda with intellectual disability) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3612708/"^^xsd:string) "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:50:42Z"^^xsd:string) AnnotationAssertion( "DOID:9005685"^^xsd:string) AnnotationAssertion( "MIM:271620"^^xsd:string) AnnotationAssertion( "MESH:C564796"^^xsd:string) AnnotationAssertion( "ORDO:163665"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia tarda with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112292"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia tarda with intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal recessive spondyloepiphyseal dysplasia tarda) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19994087/"^^xsd:string) "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:53:26Z"^^xsd:string) AnnotationAssertion( "DOID:9008360"^^xsd:string) AnnotationAssertion( "MIM:271600"^^xsd:string) AnnotationAssertion( "MESH:C564797"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112293"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive spondyloepiphyseal dysplasia tarda"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9557884/"^^xsd:string) "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:56:04Z"^^xsd:string) AnnotationAssertion( "DOID:9002773"^^xsd:string) AnnotationAssertion( "MIM:602611"^^xsd:string) AnnotationAssertion( "MESH:C566515"^^xsd:string) AnnotationAssertion( "ORDO:163649"^^xsd:string) AnnotationAssertion( "Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112294"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16752352/"^^xsd:string) "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T22:09:44Z"^^xsd:string) AnnotationAssertion( "DOID:9007642"^^xsd:string) AnnotationAssertion( "MIM:PS184255"^^xsd:string) AnnotationAssertion( "ORDO:254"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112295"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia"^^xsd:string) SubClassOf( ) # Class: (spondylometaphyseal dysplasia Algerian type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3368247/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:00:08Z"^^xsd:string) AnnotationAssertion( "DOID:9000592"^^xsd:string) AnnotationAssertion( "MIM:184253"^^xsd:string) AnnotationAssertion( "GARD:504"^^xsd:string) AnnotationAssertion( "MESH:C535794"^^xsd:string) AnnotationAssertion( "ORDO:93316"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia with severe genu valgum"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia, Schmidt type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112296"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia Algerian type"^^xsd:string) SubClassOf( ) # Class: (spondylometaphyseal dysplasia corner fracture type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2343127/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29100092/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:01:47Z"^^xsd:string) AnnotationAssertion( "DOID:9000546"^^xsd:string) AnnotationAssertion( "MIM:184255"^^xsd:string) AnnotationAssertion( "FN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:4991"^^xsd:string) AnnotationAssertion( "MESH:C535793"^^xsd:string) AnnotationAssertion( "ORDO:93315"^^xsd:string) AnnotationAssertion( "SMDCF"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia, Sutcliffe type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112297"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia corner fracture type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia Sedaghatian type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24706940/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:03:20Z"^^xsd:string) AnnotationAssertion( "DOID:9003961"^^xsd:string) AnnotationAssertion( "MIM:250220"^^xsd:string) AnnotationAssertion( "GARD:4993"^^xsd:string) AnnotationAssertion( "MESH:C535798"^^xsd:string) AnnotationAssertion( "ORDO:93317"^^xsd:string) AnnotationAssertion( "GPX4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Lethal Metaphyseal Dysplasia"^^xsd:string) AnnotationAssertion( "Metaphyseal Chondrodysplasia, Congenital Lethal"^^xsd:string) AnnotationAssertion( "SMDS"^^xsd:string) AnnotationAssertion( "Sedaghatian Chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112298"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia Sedaghatian type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (axial spondylometaphyseal dysplasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21910225/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26167768/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:05:06Z"^^xsd:string) AnnotationAssertion( "DOID:9006983"^^xsd:string) AnnotationAssertion( "MIM:602271"^^xsd:string) AnnotationAssertion( "CFAP410-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:8720"^^xsd:string) AnnotationAssertion( "MESH:C535795"^^xsd:string) AnnotationAssertion( "ORDO:168549"^^xsd:string) AnnotationAssertion( "SMD, axial"^^xsd:string) AnnotationAssertion( "SMDAX"^^xsd:string) AnnotationAssertion( "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112299"^^xsd:string) AnnotationAssertion(rdfs:label "axial spondylometaphyseal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia with cone-rod dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15326626/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/24387990/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:06:40Z"^^xsd:string) AnnotationAssertion( "DOID:9005400"^^xsd:string) AnnotationAssertion( "GARD:10647"^^xsd:string) AnnotationAssertion( "MESH:C563825"^^xsd:string) AnnotationAssertion( "MIM:608940"^^xsd:string) AnnotationAssertion( "MONDO:0012160"^^xsd:string) AnnotationAssertion( "ORDO:85167"^^xsd:string) AnnotationAssertion( "SMD-CRD"^^xsd:string) AnnotationAssertion( "SMDCRD"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112300"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia with cone-rod dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia type A4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1870931/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9637426/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:08:21Z"^^xsd:string) AnnotationAssertion( "DOID:9005008"^^xsd:string) AnnotationAssertion( "MIM:609052"^^xsd:string) AnnotationAssertion( "GARD:458"^^xsd:string) AnnotationAssertion( "MESH:C563803"^^xsd:string) AnnotationAssertion( "ORDO:168555"^^xsd:string) AnnotationAssertion( "SMDA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112301"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia type A4"^^xsd:string) SubClassOf( ) # Class: (spondylometaphyseal dysplasia East African type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12457408/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:09:43Z"^^xsd:string) AnnotationAssertion( "DOID:9006984"^^xsd:string) AnnotationAssertion( "MIM:611702"^^xsd:string) AnnotationAssertion( "GARD:4992"^^xsd:string) AnnotationAssertion( "MESH:C535796"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112302"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia East African type"^^xsd:string) SubClassOf( ) # Class: (spondylometaphyseal dysplasia with corneal dystrophy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29122926/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:11:21Z"^^xsd:string) AnnotationAssertion( "DOID:9006773"^^xsd:string) AnnotationAssertion( "MIM:618961"^^xsd:string) AnnotationAssertion( "SMDCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112303"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia Megarbane-Dagher-Melike type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24786642/"^^xsd:string) "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:12:45Z"^^xsd:string) AnnotationAssertion( "DOID:9005899"^^xsd:string) AnnotationAssertion( "MIM:613320"^^xsd:string) AnnotationAssertion( "MESH:C567644"^^xsd:string) AnnotationAssertion( "ORDO:401979"^^xsd:string) AnnotationAssertion( "Chondrodysplasia, Megarbane-Dagher-Melki Type"^^xsd:string) AnnotationAssertion( "Megarbane-Dagher-Melike type chondrodysplasia"^^xsd:string) AnnotationAssertion( "Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "SMDMDM"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112304"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12503112/"^^xsd:string) "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:15:01Z"^^xsd:string) AnnotationAssertion( "DOID:9006430"^^xsd:string) AnnotationAssertion( "MIM:607543"^^xsd:string) AnnotationAssertion( "GARD:8719"^^xsd:string) AnnotationAssertion( "MESH:C535791"^^xsd:string) AnnotationAssertion( "ORDO:168552"^^xsd:string) AnnotationAssertion( "SMD With Bowed Forearms And Facial Dysmorphism"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112305"^^xsd:string) AnnotationAssertion(rdfs:label "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism"^^xsd:string) SubClassOf( ) # Class: (Mahvash disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29702528/"^^xsd:string) "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:16:55Z"^^xsd:string) AnnotationAssertion( "GARD:10460"^^xsd:string) AnnotationAssertion( "MIM:619290"^^xsd:string) AnnotationAssertion( "ORDO:438274"^^xsd:string) AnnotationAssertion( "GCGR-related hyperglucagonemia"^^xsd:string) AnnotationAssertion( "MVAH"^^xsd:string) AnnotationAssertion( "alpha-cell hyperplasia with glucagonemia"^^xsd:string) AnnotationAssertion( "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112306"^^xsd:string) AnnotationAssertion(rdfs:label "Mahvash disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcosinemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22825317/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/5936868/"^^xsd:string) "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-29T23:18:44Z"^^xsd:string) AnnotationAssertion( "DOID:9005413"^^xsd:string) AnnotationAssertion( "GARD:158"^^xsd:string) AnnotationAssertion( "MESH:C537236"^^xsd:string) AnnotationAssertion( "MIM:268900"^^xsd:string) AnnotationAssertion( "MONDO:0010008"^^xsd:string) AnnotationAssertion( "ORDO:3129"^^xsd:string) AnnotationAssertion( "SARCOS"^^xsd:string) AnnotationAssertion( "SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY"^^xsd:string) AnnotationAssertion( "SARD deficiency"^^xsd:string) AnnotationAssertion( "SARDH deficiency"^^xsd:string) AnnotationAssertion( "SARDHD"^^xsd:string) AnnotationAssertion( "deficiency of sarcosin dehydrogenase complex"^^xsd:string) AnnotationAssertion( "deficiency of sarcosine dehydrogenase complex"^^xsd:string) AnnotationAssertion( "demethylation defect of N-methylglycine"^^xsd:string) AnnotationAssertion( "hypersarcosinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112307"^^xsd:string) AnnotationAssertion(rdfs:label "sarcosinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central precocious puberty) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23738509/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30086862/"^^xsd:string) "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T21:57:17Z"^^xsd:string) AnnotationAssertion( "EFO:0009029"^^xsd:string) AnnotationAssertion( "ICD10CM:E22.8"^^xsd:string) AnnotationAssertion( "NCI:C113217"^^xsd:string) AnnotationAssertion( "ORDO:759"^^xsd:string) AnnotationAssertion( "gonadotropin-dependant precocious puberty"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112308"^^xsd:string) AnnotationAssertion(rdfs:label "central precocious puberty"^^xsd:string) SubClassOf( ) # Class: (central precocious puberty 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23738509/"^^xsd:string) "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T22:01:09Z"^^xsd:string) AnnotationAssertion( "DOID:9005385"^^xsd:string) AnnotationAssertion( "MIM:615346"^^xsd:string) AnnotationAssertion( "CPPB2"^^xsd:string) AnnotationAssertion( "MKRN3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112309"^^xsd:string) AnnotationAssertion(rdfs:label "central precocious puberty 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central precocious puberty 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18272894/"^^xsd:string) "A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T22:04:10Z"^^xsd:string) AnnotationAssertion( "DOID:9006905"^^xsd:string) AnnotationAssertion( "MIM:176400"^^xsd:string) AnnotationAssertion( "MESH:C562787"^^xsd:string) AnnotationAssertion( "CPPB1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112310"^^xsd:string) AnnotationAssertion(rdfs:label "central precocious puberty 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male infertility due to acephalic spermatozoa) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27640305/"^^xsd:string) "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T14:17:38Z"^^xsd:string) AnnotationAssertion( "MONDO:0035153"^^xsd:string) AnnotationAssertion( "ORDO:529970"^^xsd:string) AnnotationAssertion( "acephalic spermatozoa syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112311"^^xsd:string) AnnotationAssertion(rdfs:label "male infertility due to acephalic spermatozoa"^^xsd:string) SubClassOf( ) # Class: (male infertility due to globozoospermia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3338587/"^^xsd:string) "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:22:12Z"^^xsd:string) AnnotationAssertion( "DOID:9000296"^^xsd:string) AnnotationAssertion( "DOID:9001850"^^xsd:string) AnnotationAssertion( "GARD:12502"^^xsd:string) AnnotationAssertion( "NCI:C158500"^^xsd:string) AnnotationAssertion( "ORDO:171709"^^xsd:string) AnnotationAssertion( "globozoospermia"^^xsd:string) AnnotationAssertion( "globozoospermia syndrome"^^xsd:string) AnnotationAssertion( "globozoospermias"^^xsd:string) AnnotationAssertion( "male infertility due to round-headed spermatozoa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112312"^^xsd:string) AnnotationAssertion(rdfs:label "male infertility due to globozoospermia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain small vessel disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16598045/"^^xsd:string) "A brain disease characterized by abnormalities in the small blood vessels in the brain. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:24:37Z"^^xsd:string) AnnotationAssertion( "DOID:9007269"^^xsd:string) AnnotationAssertion( "EFO:0008493"^^xsd:string) AnnotationAssertion( "MESH:D059345"^^xsd:string) AnnotationAssertion( "MIM:PS175780"^^xsd:string) AnnotationAssertion( "BSVD"^^xsd:string) AnnotationAssertion( "brain small vessel diseases"^^xsd:string) AnnotationAssertion( "cerebral microangiopathies"^^xsd:string) AnnotationAssertion( "cerebral microangiopathy"^^xsd:string) AnnotationAssertion( "cerebral small vessel disease"^^xsd:string) AnnotationAssertion( "cerebral small vessel diseases"^^xsd:string) AnnotationAssertion( "COL4-RELATED CEREBRAL SMALL VESSEL DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112313"^^xsd:string) AnnotationAssertion(rdfs:label "brain small vessel disease"^^xsd:string) SubClassOf( ) # Class: (brain small vessel disease 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22209246/"^^xsd:string) "A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:47:59Z"^^xsd:string) AnnotationAssertion( "DOID:9007357"^^xsd:string) AnnotationAssertion( "COL4A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL4A2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614483"^^xsd:string) AnnotationAssertion( "BSVD2"^^xsd:string) AnnotationAssertion( "Gould syndrome 2"^^xsd:string) AnnotationAssertion( "POREN2"^^xsd:string) AnnotationAssertion( "porencephaly 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ACQUIRED PORENCEPHALY"^^xsd:string) AnnotationAssertion( "DOID:0112314"^^xsd:string) AnnotationAssertion(rdfs:label "brain small vessel disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain small vessel disease 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30412317/"^^xsd:string) "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:50:25Z"^^xsd:string) AnnotationAssertion( "DOID:9007013"^^xsd:string) AnnotationAssertion( "MIM:618360"^^xsd:string) AnnotationAssertion( "BSVD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112315"^^xsd:string) AnnotationAssertion(rdfs:label "brain small vessel disease 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (methemoglobinemia and ambiguous genitalia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20080843/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/22170710/"^^xsd:string) "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:52:59Z"^^xsd:string) AnnotationAssertion( "DOID:9005696"^^xsd:string) AnnotationAssertion( "MIM:250790"^^xsd:string) AnnotationAssertion( "MESH:C567102"^^xsd:string) AnnotationAssertion( "METAG"^^xsd:string) AnnotationAssertion( "methemoglobinemia due to deficiency of cytochrome B5"^^xsd:string) AnnotationAssertion( "methemoglobinemia type IV"^^xsd:string) AnnotationAssertion( "pure isolated 17,20-lyase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112316"^^xsd:string) AnnotationAssertion(rdfs:label "methemoglobinemia and ambiguous genitalia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schindler disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3149698/"^^xsd:string) "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T16:57:08Z"^^xsd:string) AnnotationAssertion( "ORDO:3137"^^xsd:string) AnnotationAssertion( "Alpha-N-Acetylgalactosaminidase Deficiency"^^xsd:string) AnnotationAssertion( "Alpha-Naga Deficiency"^^xsd:string) AnnotationAssertion( "Naga Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112317"^^xsd:string) AnnotationAssertion(rdfs:label "Schindler disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schindler disease type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2889023/"^^xsd:string) "A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T17:24:35Z"^^xsd:string) AnnotationAssertion( "DOID:9008896"^^xsd:string) AnnotationAssertion( "MIM:609241"^^xsd:string) AnnotationAssertion( "GARD:116"^^xsd:string) AnnotationAssertion( "MESH:C536631"^^xsd:string) AnnotationAssertion( "ORDO:79279"^^xsd:string) AnnotationAssertion( "Alpha-Galactosidase B Deficiency"^^xsd:string) AnnotationAssertion( "Alpha-Galnac Deficiency, Schindler Type"^^xsd:string) AnnotationAssertion( "Alpha-N-Acetylgalactosaminidase Deficiency, Type I"^^xsd:string) AnnotationAssertion( "Alpha-N-acetylgalactosaminidase deficiency, type 1"^^xsd:string) AnnotationAssertion( "Angiokeratoma Corporis Diffusum-Glycopeptiduria"^^xsd:string) AnnotationAssertion( "Galb Deficiency"^^xsd:string) AnnotationAssertion( "Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum"^^xsd:string) AnnotationAssertion( "NAGA deficiency type 1"^^xsd:string) AnnotationAssertion( "Naga Deficiency, Type I"^^xsd:string) AnnotationAssertion( "Neuroaxonal dystrophy, Schindler type"^^xsd:string) AnnotationAssertion( "Neuronal Axonal Dystrophy, Schindler Type"^^xsd:string) AnnotationAssertion( "Schindler Disease, Type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112318"^^xsd:string) AnnotationAssertion(rdfs:label "Schindler disease type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kanzaki disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2564952/"^^xsd:string) "A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T17:31:08Z"^^xsd:string) AnnotationAssertion( "GARD:9161"^^xsd:string) AnnotationAssertion( "MIM:609242"^^xsd:string) AnnotationAssertion( "ORDO:79280"^^xsd:string) AnnotationAssertion( "Alpha-N-acetylgalactosaminidase deficiency adult onset"^^xsd:string) AnnotationAssertion( "Alpha-N-acetylgalactosaminidase deficiency type 2"^^xsd:string) AnnotationAssertion( "NAGA Deficiency, Type II"^^xsd:string) AnnotationAssertion( "NAGA deficiency type 2"^^xsd:string) AnnotationAssertion( "Schindler Disease, Type II"^^xsd:string) AnnotationAssertion( "Schindler disease, type 2"^^xsd:string) AnnotationAssertion( "alpha-N-Acetylgalactosaminidase Deficiency, Type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112319"^^xsd:string) AnnotationAssertion(rdfs:label "Kanzaki disease"^^xsd:string) SubClassOf( ) # Class: (Schindler disease type 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8071745/"^^xsd:string) "A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T17:35:58Z"^^xsd:string) AnnotationAssertion( "GARD:3903"^^xsd:string) AnnotationAssertion( "ORDO:79281"^^xsd:string) AnnotationAssertion( "Alpha-N-Acetylgalactosaminidase Deficiency, Type III"^^xsd:string) AnnotationAssertion( "NAGA DEFICIENCY, TYPE III"^^xsd:string) AnnotationAssertion( "NAGA deficiency type 3"^^xsd:string) AnnotationAssertion( "SCHINDLER DISEASE, TYPE III"^^xsd:string) AnnotationAssertion( "alpha-N-acetylgalactosaminidase deficiency type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112320"^^xsd:string) AnnotationAssertion(rdfs:label "Schindler disease type 3"^^xsd:string) SubClassOf( ) # Class: (alacrima, achalasia, and impaired intellectual development syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24035193/"^^xsd:string) "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-12T17:41:08Z"^^xsd:string) AnnotationAssertion( "DOID:9004427"^^xsd:string) AnnotationAssertion( "MIM:615510"^^xsd:string) AnnotationAssertion( "NCI:C202544"^^xsd:string) AnnotationAssertion( "AAMR"^^xsd:string) AnnotationAssertion( "alacrima, achalasia, and mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112321"^^xsd:string) AnnotationAssertion(rdfs:label "alacrima, achalasia, and impaired intellectual development syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21749694/"^^xsd:string) "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:30:30Z"^^xsd:string) AnnotationAssertion( "DOID:9009228"^^xsd:string) AnnotationAssertion( "GARD:10704"^^xsd:string) AnnotationAssertion( "MESH:C548069"^^xsd:string) AnnotationAssertion( "Norman disease"^^xsd:string) AnnotationAssertion( "PCH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112322"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1D) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29727687/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30690203/"^^xsd:string) "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:59:03Z"^^xsd:string) AnnotationAssertion( "DOID:9009227"^^xsd:string) AnnotationAssertion( "MIM:618065"^^xsd:string) AnnotationAssertion( "PCH1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112323"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28823706/"^^xsd:string) "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:01:03Z"^^xsd:string) AnnotationAssertion( "DOID:9003995"^^xsd:string) AnnotationAssertion( "MIM:617695"^^xsd:string) AnnotationAssertion( "MONDO:0054669"^^xsd:string) AnnotationAssertion( "ORDO:611247"^^xsd:string) AnnotationAssertion( "PCH11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112324"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33220177/"^^xsd:string) "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:03:29Z"^^xsd:string) AnnotationAssertion( "DOID:9001507"^^xsd:string) AnnotationAssertion( "MIM:619301"^^xsd:string) AnnotationAssertion( "PCH14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112325"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 14"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33220177/"^^xsd:string) "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:05:01Z"^^xsd:string) AnnotationAssertion( "DOID:9005060"^^xsd:string) AnnotationAssertion( "MIM:619302"^^xsd:string) AnnotationAssertion( "PCH15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112326"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30089828/"^^xsd:string) "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:07:18Z"^^xsd:string) AnnotationAssertion( "DOID:9004840"^^xsd:string) AnnotationAssertion( "COASY-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618266"^^xsd:string) AnnotationAssertion( "ORDO:611256"^^xsd:string) AnnotationAssertion( "COASY-related pontocerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "PCH12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112327"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/"^^xsd:string) "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T14:33:36Z"^^xsd:string) AnnotationAssertion( "DOID:9003707"^^xsd:string) AnnotationAssertion( "GARD:10705"^^xsd:string) AnnotationAssertion( "MESH:C548070"^^xsd:string) AnnotationAssertion( "MONDO:0016759"^^xsd:string) AnnotationAssertion( "ORDO:2524"^^xsd:string) AnnotationAssertion( "PCH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112328"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 2F) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27392077/"^^xsd:string) "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:10:14Z"^^xsd:string) AnnotationAssertion( "DOID:9004573"^^xsd:string) AnnotationAssertion( "MIM:617026"^^xsd:string) AnnotationAssertion( "MONDO:0014874"^^xsd:string) AnnotationAssertion( "PCH2F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112329"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 2F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1E) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26168012/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28653766/"^^xsd:string) "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:12:14Z"^^xsd:string) AnnotationAssertion( "DOID:9005567"^^xsd:string) AnnotationAssertion( "MIM:619303"^^xsd:string) AnnotationAssertion( "PCH1E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112330"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1F) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33463720/"^^xsd:string) "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:13:46Z"^^xsd:string) AnnotationAssertion( "DOID:9004539"^^xsd:string) AnnotationAssertion( "MIM:619304"^^xsd:string) AnnotationAssertion( "PCH1F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112331"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 13) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31207318/"^^xsd:string) "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:15:19Z"^^xsd:string) AnnotationAssertion( "DOID:9001590"^^xsd:string) AnnotationAssertion( "EFO:0010636"^^xsd:string) AnnotationAssertion( "MIM:618606"^^xsd:string) AnnotationAssertion( "PCH13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112332"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 16) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33168985/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33257696/"^^xsd:string) "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:16:58Z"^^xsd:string) AnnotationAssertion( "DOID:9007990"^^xsd:string) AnnotationAssertion( "MIM:619527"^^xsd:string) AnnotationAssertion( "PCH16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112333"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 1C) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24989451/"^^xsd:string) "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:18:17Z"^^xsd:string) AnnotationAssertion( "DOID:9006688"^^xsd:string) AnnotationAssertion( "MIM:616081"^^xsd:string) AnnotationAssertion( "HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "PCH1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112334"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 1C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 54) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32503832/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:19:56Z"^^xsd:string) AnnotationAssertion( "DOID:9001569"^^xsd:string) AnnotationAssertion( "MIM:619379"^^xsd:string) AnnotationAssertion( "SPGF54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112335"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 54"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 56) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34237282/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:22:02Z"^^xsd:string) AnnotationAssertion( "DOID:9003560"^^xsd:string) AnnotationAssertion( "MIM:619515"^^xsd:string) AnnotationAssertion( "SPGF56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112336"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 56"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 55) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28548327/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:23:19Z"^^xsd:string) AnnotationAssertion( "DOID:9008489"^^xsd:string) AnnotationAssertion( "MIM:619380"^^xsd:string) AnnotationAssertion( "SPGF55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112337"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 55"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 57) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34347949/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-16T15:24:41Z"^^xsd:string) AnnotationAssertion( "DOID:9007053"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION"^^xsd:string) AnnotationAssertion( "MIM:619528"^^xsd:string) AnnotationAssertion( "SPGF57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112338"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 57"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tatton-Brown-Rahman syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24614070/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34315901/"^^xsd:string) "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:43:52Z"^^xsd:string) AnnotationAssertion( "DOID:9007831"^^xsd:string) AnnotationAssertion( "MIM:615879"^^xsd:string) AnnotationAssertion( "ORDO:404443"^^xsd:string) AnnotationAssertion( "DNMT3A overgrowth syndrome"^^xsd:string) AnnotationAssertion( "DOS"^^xsd:string) AnnotationAssertion( "TBRS"^^xsd:string) AnnotationAssertion( "Tatton-Brown-Rahman overgrowth syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112339"^^xsd:string) AnnotationAssertion(rdfs:label "Tatton-Brown-Rahman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (craniotubular dysplasia Ikegawa type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33824347/"^^xsd:string) "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:49:09Z"^^xsd:string) AnnotationAssertion( "MIM:619727"^^xsd:string) AnnotationAssertion( "CTDI"^^xsd:string) AnnotationAssertion( "TMEM53-RELATED CRANIOTUBULAR DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112340"^^xsd:string) AnnotationAssertion(rdfs:label "craniotubular dysplasia Ikegawa type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 80) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30929741/"^^xsd:string) "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:51:25Z"^^xsd:string) AnnotationAssertion( "DOID:9000479"^^xsd:string) AnnotationAssertion( "MIM:618418"^^xsd:string) AnnotationAssertion( "SPG80"^^xsd:string) AnnotationAssertion( "UBAP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant spastic paraplegia 80"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112341"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 80"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 86) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34489854/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34866177/"^^xsd:string) "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:54:24Z"^^xsd:string) AnnotationAssertion( "DOID:9000731"^^xsd:string) AnnotationAssertion( "MIM:619735"^^xsd:string) AnnotationAssertion( "SPG86"^^xsd:string) AnnotationAssertion( "spastic paraplegia 86 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112342"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 86"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 82) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31637422/"^^xsd:string) "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:56:53Z"^^xsd:string) AnnotationAssertion( "DOID:9003993"^^xsd:string) AnnotationAssertion( "MIM:618770"^^xsd:string) AnnotationAssertion( "SPG82"^^xsd:string) AnnotationAssertion( "spastic paraplegia 82 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112343"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 82"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 79B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28007905/"^^xsd:string) "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:58:55Z"^^xsd:string) AnnotationAssertion( "DOID:9002985"^^xsd:string) AnnotationAssertion( "MIM:615491"^^xsd:string) AnnotationAssertion( "ORDO:352654"^^xsd:string) AnnotationAssertion( "NDGOA"^^xsd:string) AnnotationAssertion( "SPG79B"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 79B"^^xsd:string) AnnotationAssertion( "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"^^xsd:string) AnnotationAssertion( "neurodegeneration with optic atrophy, childhood-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SPG79"^^xsd:string) AnnotationAssertion( "autosomal recessive spastic paraplegia 79"^^xsd:string) AnnotationAssertion( "DOID:0112344"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 79B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 85) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31636353/"^^xsd:string) "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:00:45Z"^^xsd:string) AnnotationAssertion( "DOID:9002197"^^xsd:string) AnnotationAssertion( "MIM:619686"^^xsd:string) AnnotationAssertion( "SPG85"^^xsd:string) AnnotationAssertion( "spastic paraplegia 85 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112345"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 85"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 83) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32707086/"^^xsd:string) "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:02:39Z"^^xsd:string) AnnotationAssertion( "DOID:9006133"^^xsd:string) AnnotationAssertion( "MIM:619027"^^xsd:string) AnnotationAssertion( "SPG83"^^xsd:string) AnnotationAssertion( "spastic paraplegia 83 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112346"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 83"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 84) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34415322/"^^xsd:string) "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:04:06Z"^^xsd:string) AnnotationAssertion( "DOID:9000072"^^xsd:string) AnnotationAssertion( "EFO:0020858"^^xsd:string) AnnotationAssertion( "MIM:619621"^^xsd:string) AnnotationAssertion( "SPG84"^^xsd:string) AnnotationAssertion( "spastic paraplegia 84 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112347"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 84"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 78) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28137957/"^^xsd:string) "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:05:29Z"^^xsd:string) AnnotationAssertion( "DOID:9003368"^^xsd:string) AnnotationAssertion( "ATP13A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617225"^^xsd:string) AnnotationAssertion( "ORDO:513436"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78"^^xsd:string) AnnotationAssertion( "SPG78"^^xsd:string) AnnotationAssertion( "spastic paraplegia 78 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112348"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 78"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spastic paraplegia 81) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28052917/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29500230/"^^xsd:string) "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:07:23Z"^^xsd:string) AnnotationAssertion( "DOID:9005550"^^xsd:string) AnnotationAssertion( "MIM:618768"^^xsd:string) AnnotationAssertion( "ORDO:506353"^^xsd:string) AnnotationAssertion( "SPG81"^^xsd:string) AnnotationAssertion( "autosomal recessive complex SPG due to Kennedy pathway dysfunction"^^xsd:string) AnnotationAssertion( "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"^^xsd:string) AnnotationAssertion( "spastic paraplegia 81 autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112349"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia 81"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 61) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31125047/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31682730/"^^xsd:string) "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:08:57Z"^^xsd:string) AnnotationAssertion( "DOID:9003991"^^xsd:string) AnnotationAssertion( "MIM:619672"^^xsd:string) AnnotationAssertion( "SPGF61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112350"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 61"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 62) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31125047/"^^xsd:string) "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:12:31Z"^^xsd:string) AnnotationAssertion( "DOID:9000031"^^xsd:string) AnnotationAssertion( "MIM:619673"^^xsd:string) AnnotationAssertion( "SPGF62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112351"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 62"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 58) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33689014/"^^xsd:string) "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:14:03Z"^^xsd:string) AnnotationAssertion( "DOID:9005122"^^xsd:string) AnnotationAssertion( "MIM:619585"^^xsd:string) AnnotationAssertion( "MMAF"^^xsd:string) AnnotationAssertion( "MULTIPLE MORPHOLOGICAL ANOMALIES OF SPERM FLAGELLA"^^xsd:string) AnnotationAssertion( "SPGF58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112352"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 58"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 64) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30878252/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34595750/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:16:36Z"^^xsd:string) AnnotationAssertion( "DOID:9000302"^^xsd:string) AnnotationAssertion( "MIM:619696"^^xsd:string) AnnotationAssertion( "SPGF64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112353"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 64"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 65) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34932939/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:17:35Z"^^xsd:string) AnnotationAssertion( "DOID:9003804"^^xsd:string) AnnotationAssertion( "MIM:619712"^^xsd:string) AnnotationAssertion( "DNHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SPGF65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112354"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 65"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 60) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32741963/"^^xsd:string) "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:18:49Z"^^xsd:string) AnnotationAssertion( "DOID:9000091"^^xsd:string) AnnotationAssertion( "MIM:619646"^^xsd:string) AnnotationAssertion( "SPGF 60"^^xsd:string) AnnotationAssertion( "SPGF60"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112355"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 60"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 63) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32111475/"^^xsd:string) "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:20:36Z"^^xsd:string) AnnotationAssertion( "DOID:9002940"^^xsd:string) AnnotationAssertion( "MIM:619689"^^xsd:string) AnnotationAssertion( "SPGF63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112356"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 63"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatogenic failure 59) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33211200/"^^xsd:string) "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:22:02Z"^^xsd:string) AnnotationAssertion( "DOID:9002386"^^xsd:string) AnnotationAssertion( "MIM:619645"^^xsd:string) AnnotationAssertion( "SPGF59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112357"^^xsd:string) AnnotationAssertion(rdfs:label "spermatogenic failure 59"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2) AnnotationAssertion( "Characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Caused by homozygous mutation in the SCUBE3 gene on chromosome 6p21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T16:56:25Z"^^xsd:string) AnnotationAssertion( "DOID:9005035"^^xsd:string) AnnotationAssertion( "MIM:619184"^^xsd:string) AnnotationAssertion( "SSFSC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112358"^^xsd:string) AnnotationAssertion(rdfs:label "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"^^xsd:string) SubClassOf( ) # Class: (congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28566479/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29036646/"^^xsd:string) "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T17:06:04Z"^^xsd:string) AnnotationAssertion( "DOID:9006401"^^xsd:string) AnnotationAssertion( "MIM:617641"^^xsd:string) AnnotationAssertion( "CAKUTHED"^^xsd:string) AnnotationAssertion( "PBX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112359"^^xsd:string) AnnotationAssertion(rdfs:label "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondylocostal dysostosis 6) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25343988/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:47:47Z"^^xsd:string) AnnotationAssertion( "DOID:9007515"^^xsd:string) AnnotationAssertion( "MIM:616566"^^xsd:string) AnnotationAssertion( "SCDO6"^^xsd:string) AnnotationAssertion( "spondylocostal dysostosis 6, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112360"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 6"^^xsd:string) SubClassOf( ) # Class: (spondylocostal dysostosis 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16385447/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:50:44Z"^^xsd:string) AnnotationAssertion( "DOID:9008439"^^xsd:string) AnnotationAssertion( "MIM:609813"^^xsd:string) AnnotationAssertion( "SCDO3"^^xsd:string) AnnotationAssertion( "spondylocostal dysostosis 3, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112361"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 3"^^xsd:string) SubClassOf( ) # Class: (spondylocostal dysostosis 2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15122512/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:52:45Z"^^xsd:string) AnnotationAssertion( "DOID:9001037"^^xsd:string) AnnotationAssertion( "MIM:608681"^^xsd:string) AnnotationAssertion( "SCDO2"^^xsd:string) AnnotationAssertion( "spondylocostal dysostosis 2, autosomal recessive"^^xsd:string) AnnotationAssertion( "spondylocostal dysostosis type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112362"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 2"^^xsd:string) SubClassOf( ) # Class: (spondylocostal dysostosis 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23335591/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25564734/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:55:10Z"^^xsd:string) AnnotationAssertion( "DOID:9005408"^^xsd:string) AnnotationAssertion( "MIM:122600"^^xsd:string) AnnotationAssertion( "MONDO:0007389"^^xsd:string) AnnotationAssertion( "SCDO5"^^xsd:string) AnnotationAssertion( "TACS"^^xsd:string) AnnotationAssertion( "TBX6-associated congenital scoliosis"^^xsd:string) AnnotationAssertion( "congenital scoliosis with or without rib anomalies"^^xsd:string) AnnotationAssertion( "spondylothoracic dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SPONDYLOCOSTAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "DOID:0112363"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylocostal dysostosis 4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18775957/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:57:17Z"^^xsd:string) AnnotationAssertion( "DOID:9008362"^^xsd:string) AnnotationAssertion( "MIM:613686"^^xsd:string) AnnotationAssertion( "SCDO4"^^xsd:string) AnnotationAssertion( "spondylocostal dysostosis 4, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112364"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 4"^^xsd:string) SubClassOf( ) # Class: (spondylocostal dysostosis 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10742114/"^^xsd:string) "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T18:59:07Z"^^xsd:string) AnnotationAssertion( "DOID:9007004"^^xsd:string) AnnotationAssertion( "MIM:277300"^^xsd:string) AnnotationAssertion( "MESH:C537565"^^xsd:string) AnnotationAssertion( "DLL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DLL3-related disorder"^^xsd:string) AnnotationAssertion( "Jarcho-Levin syndrome"^^xsd:string) AnnotationAssertion( "SCDO1"^^xsd:string) AnnotationAssertion( "autosomal recessive spondylocostal dysostosis 1"^^xsd:string) AnnotationAssertion( "costovertebral dysplasia"^^xsd:string) AnnotationAssertion( "spondylocostal dysplasia, recessive form"^^xsd:string) AnnotationAssertion( "spondylothoracic dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112365"^^xsd:string) AnnotationAssertion(rdfs:label "spondylocostal dysostosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Coffin-Siris syndrome 8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30580808/"^^xsd:string) "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T23:15:08Z"^^xsd:string) AnnotationAssertion( "DOID:9002142"^^xsd:string) AnnotationAssertion( "MIM:618362"^^xsd:string) AnnotationAssertion( "CSS8"^^xsd:string) AnnotationAssertion( "SMARCC2-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "SMARCC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112367"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 5) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22426308/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23906836/"^^xsd:string) "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T23:17:26Z"^^xsd:string) AnnotationAssertion( "DOID:9009053"^^xsd:string) AnnotationAssertion( "MIM:616938"^^xsd:string) AnnotationAssertion( "CSS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112368"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 7) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29429572/"^^xsd:string) "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T07:59:31Z"^^xsd:string) AnnotationAssertion( "DOID:9009178"^^xsd:string) AnnotationAssertion( "MIM:618027"^^xsd:string) AnnotationAssertion( "CSS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112369"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33232675/"^^xsd:string) "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T08:02:29Z"^^xsd:string) AnnotationAssertion( "DOID:9003485"^^xsd:string) AnnotationAssertion( "MIM:619325"^^xsd:string) AnnotationAssertion( "BICRA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CSS12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112370"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 12"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 10) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30661772/"^^xsd:string) "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T08:04:02Z"^^xsd:string) AnnotationAssertion( "DOID:9001894"^^xsd:string) AnnotationAssertion( "MIM:618506"^^xsd:string) AnnotationAssertion( "CSS10"^^xsd:string) AnnotationAssertion( "IDDSDF"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112371"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 10"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome 11) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30879640/"^^xsd:string) "A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T08:05:39Z"^^xsd:string) AnnotationAssertion( "DOID:9006260"^^xsd:string) AnnotationAssertion( "MIM:618779"^^xsd:string) AnnotationAssertion( "CSS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112372"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome 11"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant auditory neuropathy 3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34050020/"^^xsd:string) "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T08:07:27Z"^^xsd:string) AnnotationAssertion( "DOID:9002849"^^xsd:string) AnnotationAssertion( "MIM:619832"^^xsd:string) AnnotationAssertion( "AUNA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112373"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant auditory neuropathy 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19299310/"^^xsd:string) "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T19:28:16Z"^^xsd:string) AnnotationAssertion( "ORDO:370953"^^xsd:string) AnnotationAssertion( "CMD due to dystroglycanopathy"^^xsd:string) AnnotationAssertion( "MDDG"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy due to dystroglycanopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112374"^^xsd:string) AnnotationAssertion(rdfs:comment "On 2022-06-02, DOID:0050588 [muscular dystrophy-dystroglycanopathy] has been renamed to [muscular dystrophy-dystroglycanopathy type B1] -- thank you DO :-("^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy"^^xsd:string) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15792865/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/17878207/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T19:35:43Z"^^xsd:string) AnnotationAssertion( "MIM:PS613155"^^xsd:string) AnnotationAssertion( "MDDGB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112375"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B"^^xsd:string) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B15) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31469168/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:09:25Z"^^xsd:string) AnnotationAssertion( "DOID:9001076"^^xsd:string) AnnotationAssertion( "MIM:618992"^^xsd:string) AnnotationAssertion( "MDDGB15"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, DPM3-related"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112376"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B14) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23768512/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:11:18Z"^^xsd:string) AnnotationAssertion( "DOID:9000748"^^xsd:string) AnnotationAssertion( "MIM:615351"^^xsd:string) AnnotationAssertion( "MDDGB14"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, GMPPB-related"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112377"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B14"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B3) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19067344/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/19299310/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:15:28Z"^^xsd:string) AnnotationAssertion( "DOID:9008630"^^xsd:string) AnnotationAssertion( "MIM:613151"^^xsd:string) AnnotationAssertion( "MDDGB3"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, POMGNT1-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112378"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B4) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17878207/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:45:53Z"^^xsd:string) AnnotationAssertion( "DOID:9005845"^^xsd:string) AnnotationAssertion( "MIM:613152"^^xsd:string) AnnotationAssertion( "MDDGB4"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, FKTN-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112379"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type B2) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17634419/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:49:42Z"^^xsd:string) AnnotationAssertion( "DOID:9005669"^^xsd:string) AnnotationAssertion( "MIM:613156"^^xsd:string) AnnotationAssertion( "NCI:C126690"^^xsd:string) AnnotationAssertion( "MDDGB2"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, POMT2-related"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112380"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type B2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type C12) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24925318/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:51:37Z"^^xsd:string) AnnotationAssertion( "DOID:9006042"^^xsd:string) AnnotationAssertion( "EFO:0010955"^^xsd:string) AnnotationAssertion( "MIM:616094"^^xsd:string) AnnotationAssertion( "ORDO:445110"^^xsd:string) AnnotationAssertion( "LGMD due to POMK deficiency"^^xsd:string) AnnotationAssertion( "Limb-girdle muscular dystrophy due to POMK deficiency"^^xsd:string) AnnotationAssertion( "MDDGC12"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112381"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type C12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular dystrophy-dystroglycanopathy type C8) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27066570/"^^xsd:string) "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T09:56:53Z"^^xsd:string) AnnotationAssertion( "DOID:9001671"^^xsd:string) AnnotationAssertion( "MIM:618135"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Limb-Girdle Muscular Dystrophy 24"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24"^^xsd:string) AnnotationAssertion( "LGMDR24"^^xsd:string) AnnotationAssertion( "MDDGC8"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy-dystroglycanopathy (type C8)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112382"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy-dystroglycanopathy type C8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (KINSSHIP syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18616733/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33961779/"^^xsd:string) "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-03T10:27:42Z"^^xsd:string) AnnotationAssertion( "DOID:9001233"^^xsd:string) AnnotationAssertion( "MIM:619297"^^xsd:string) AnnotationAssertion( "KINS"^^xsd:string) AnnotationAssertion( "MESOMELIC DYSPLASIA, AFF3-RELATED"^^xsd:string) AnnotationAssertion( "MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE"^^xsd:string) AnnotationAssertion( "horseshoe KIdney, Nievergelt/Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:0112383"^^xsd:string) AnnotationAssertion(rdfs:label "KINSSHIP syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multisystem proteinopathy) AnnotationAssertion(Annotation( "https://n.neurology.org/content/85/8/658"^^xsd:string) "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:070355"^^xsd:string) AnnotationAssertion(rdfs:label "multisystem proteinopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (intestinal infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intestine"^^xsd:string) "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A00-A09"^^xsd:string) AnnotationAssertion( "ICD9CM:001-009.99"^^xsd:string) AnnotationAssertion( "RDO:9004384"^^xsd:string) AnnotationAssertion( "bacterial enteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:100"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal infectious disease"^^xsd:string) SubClassOf( ) # Class: (sensorineural hearing loss) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/003291.htm"^^xsd:string) "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001176"^^xsd:string) AnnotationAssertion( "ICD10CM:H90.5"^^xsd:string) AnnotationAssertion( "ICD9CM:389.1"^^xsd:string) AnnotationAssertion( "MESH:D006319"^^xsd:string) AnnotationAssertion( "NCI:C26739"^^xsd:string) AnnotationAssertion( "NCI:C34662"^^xsd:string) AnnotationAssertion( "central hearing loss"^^xsd:string) AnnotationAssertion( "cochlear hearing loss"^^xsd:string) AnnotationAssertion( "perceptive deafness"^^xsd:string) AnnotationAssertion( "perceptive hearing loss"^^xsd:string) AnnotationAssertion( "perceptive hearing loss or deafness"^^xsd:string) AnnotationAssertion( "sensorineural deafness"^^xsd:string) AnnotationAssertion( "sensorineural hearing loss disorder"^^xsd:string) AnnotationAssertion( "sensory hearing loss"^^xsd:string) AnnotationAssertion( "CONGENITAL SENSORINEURAL HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness with peripheral neuropathy"^^xsd:string) AnnotationAssertion( "bilateral sensorineural hearing impairment"^^xsd:string) AnnotationAssertion( "progressive sensorineural hearing impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10003"^^xsd:string) AnnotationAssertion(rdfs:label "sensorineural hearing loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK544282/"^^xsd:string) "A thyroid gland cancer that has_material_basis_in lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10011"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple endocrine neoplasia type 2B) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15965261"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract"^^xsd:string) "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:162300"^^xsd:string) AnnotationAssertion( "ICD10CM:E31.23"^^xsd:string) AnnotationAssertion( "ICD9CM:258.03"^^xsd:string) AnnotationAssertion( "MESH:D018814"^^xsd:string) AnnotationAssertion( "NCI:C3227"^^xsd:string) AnnotationAssertion( "ORDO:247709"^^xsd:string) AnnotationAssertion( "MEA 2b"^^xsd:string) AnnotationAssertion( "MEA IIb"^^xsd:string) AnnotationAssertion( "MEN 2b"^^xsd:string) AnnotationAssertion( "MEN 3"^^xsd:string) AnnotationAssertion( "MEN III"^^xsd:string) AnnotationAssertion( "MEN IIb"^^xsd:string) AnnotationAssertion( "MEN type IIB"^^xsd:string) AnnotationAssertion( "MEN2b"^^xsd:string) AnnotationAssertion( "Multiple Endocrine Neoplasia, Type IIb"^^xsd:string) AnnotationAssertion( "Wagenmann Froboese syndrome"^^xsd:string) AnnotationAssertion( "mucosal neuroma syndromes"^^xsd:string) AnnotationAssertion( "mucosal neuromata with endocrine tumors"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia, type 3"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasms type 2B"^^xsd:string) AnnotationAssertion( "MEN3"^^xsd:string) AnnotationAssertion( "MUCOSAL NEUROMA SYNDROME"^^xsd:string) AnnotationAssertion( "MULTIPLE ENDOCRINE NEOPLASIA, TYPE III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10016"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia type 2B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple endocrine neoplasia type 1) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25509899"^^xsd:string) "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131100"^^xsd:string) AnnotationAssertion( "GARD:3829"^^xsd:string) AnnotationAssertion( "ICD10CM:E31.21"^^xsd:string) AnnotationAssertion( "ICD9CM:258.01"^^xsd:string) AnnotationAssertion( "MESH:D018761"^^xsd:string) AnnotationAssertion( "NCI:C3225"^^xsd:string) AnnotationAssertion( "ORDO:652"^^xsd:string) AnnotationAssertion( "MEA 1"^^xsd:string) AnnotationAssertion( "MEA I"^^xsd:string) AnnotationAssertion( "MEN 1"^^xsd:string) AnnotationAssertion( "MEN I"^^xsd:string) AnnotationAssertion( "MEN type I"^^xsd:string) AnnotationAssertion( "MEN1"^^xsd:string) AnnotationAssertion( "MEN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Wermer syndrome"^^xsd:string) AnnotationAssertion( "Wermer's syndrome"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia type I"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasms type 1"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasms type I"^^xsd:string) AnnotationAssertion( "Wermer syndrome MEN1 somatic mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10017"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7511354"^^xsd:string) "An endometrial disease that is characterized by inflammation of the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001312"^^xsd:string) AnnotationAssertion( "MESH:D004716"^^xsd:string) AnnotationAssertion( "NCI:C26764"^^xsd:string) AnnotationAssertion( "endomyometritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1002"^^xsd:string) AnnotationAssertion(rdfs:label "endometritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater cancer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25485917/"^^xsd:string) "A duodenum cancer that is located_in the ampulla of Vater. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C24.1"^^xsd:string) AnnotationAssertion( "ICD9CM:156.2"^^xsd:string) AnnotationAssertion( "NCI:C3536"^^xsd:string) AnnotationAssertion( "malignant tumour of ampulla of Vater"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10020"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenum cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Duodenal_cancer"^^xsd:string) "A small intestine cancer that is located_in the beginning section of the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C17.0"^^xsd:string) AnnotationAssertion( "ICD9CM:152.0"^^xsd:string) AnnotationAssertion( "NCI:C4803"^^xsd:string) AnnotationAssertion( "NCI:C9328"^^xsd:string) AnnotationAssertion( "cancer of duodenum"^^xsd:string) AnnotationAssertion( "duodenal cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10021"^^xsd:string) AnnotationAssertion(rdfs:label "duodenum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/"^^xsd:string) "A duodenal benign neoplasm that is located_in the ampulla of Vater. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4443"^^xsd:string) AnnotationAssertion( "tumor of the ampulla of Vater"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10022"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (migraine with aura) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Migraine"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404"^^xsd:string) "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609179"^^xsd:string) AnnotationAssertion( "MIM:609670"^^xsd:string) AnnotationAssertion( "EFO:0005295"^^xsd:string) AnnotationAssertion( "ICD10CM:G43.1"^^xsd:string) AnnotationAssertion( "ICD9CM:346.0"^^xsd:string) AnnotationAssertion( "MESH:D020325"^^xsd:string) AnnotationAssertion( "MONDO:0005475"^^xsd:string) AnnotationAssertion( "NCI:C117005"^^xsd:string) AnnotationAssertion( "Classic Migraine"^^xsd:string) AnnotationAssertion( "Classical Migraine"^^xsd:string) AnnotationAssertion( "Complicated Migraine"^^xsd:string) AnnotationAssertion( "Hemiplegic-Ophthalmoplegic Migraine"^^xsd:string) AnnotationAssertion( "Migraine Aura without Headache"^^xsd:string) AnnotationAssertion( "Migraine with Acute Onset Aura"^^xsd:string) AnnotationAssertion( "acute onset aura migraine"^^xsd:string) AnnotationAssertion( "basilar artery migraine"^^xsd:string) AnnotationAssertion( "basilar migraine"^^xsd:string) AnnotationAssertion( "basilar migraines"^^xsd:string) AnnotationAssertion( "basilar type migraine"^^xsd:string) AnnotationAssertion( "migraine with auras"^^xsd:string) AnnotationAssertion( "migraine with prolonged aura"^^xsd:string) AnnotationAssertion( "migraine with typical aura"^^xsd:string) AnnotationAssertion( "prolonged aura migraine"^^xsd:string) AnnotationAssertion( "typical aura without headache"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MGR13"^^xsd:string) AnnotationAssertion( "MGR7"^^xsd:string) AnnotationAssertion( "MGR9"^^xsd:string) AnnotationAssertion( "migraine with aura, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "migraine with aura, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "DOID:10024"^^xsd:string) AnnotationAssertion(rdfs:label "migraine with aura"^^xsd:string) SubClassOf( ) # Class: (tabes dorsalis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm"^^xsd:string) "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007505"^^xsd:string) AnnotationAssertion( "GARD:8730"^^xsd:string) AnnotationAssertion( "ICD10CM:A52.11"^^xsd:string) AnnotationAssertion( "ICD9CM:094.0"^^xsd:string) AnnotationAssertion( "MESH:D013606"^^xsd:string) AnnotationAssertion( "NCI:C35057"^^xsd:string) AnnotationAssertion( "Locomotor Ataxia"^^xsd:string) AnnotationAssertion( "Locomotor Ataxias"^^xsd:string) AnnotationAssertion( "Myelosyphilis"^^xsd:string) AnnotationAssertion( "Spinal Cord Syphilis"^^xsd:string) AnnotationAssertion( "Spinal Meningovascular Syphilis"^^xsd:string) AnnotationAssertion( "Syphilitic Meningomyelitides"^^xsd:string) AnnotationAssertion( "Syphilitic Meningomyelitis"^^xsd:string) AnnotationAssertion( "Tabes Spinalis"^^xsd:string) AnnotationAssertion( "Tabetic Neurosyphilis"^^xsd:string) AnnotationAssertion( "posterior spinal sclerosis"^^xsd:string) AnnotationAssertion( "tabes dorsalis - neurosyphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10027"^^xsd:string) AnnotationAssertion(rdfs:label "tabes dorsalis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pelvic inflammatory disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25992748"^^xsd:string) "A female reproductive system disease that is characterized by an infection of the female reproductive organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001388"^^xsd:string) AnnotationAssertion( "ICD10CM:N73.9"^^xsd:string) AnnotationAssertion( "ICD9CM:614.9"^^xsd:string) AnnotationAssertion( "MESH:D000292"^^xsd:string) AnnotationAssertion( "NCI:C3889"^^xsd:string) AnnotationAssertion( "PID"^^xsd:string) AnnotationAssertion( "adnexitis"^^xsd:string) AnnotationAssertion( "inflammatory pelvic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1003"^^xsd:string) AnnotationAssertion(rdfs:label "pelvic inflammatory disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary interstitial emphysema) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us"^^xsd:string) Annotation( "https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html"^^xsd:string) "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J98.2"^^xsd:string) AnnotationAssertion( "ICD9CM:518.1"^^xsd:string) AnnotationAssertion( "NCI:C34571"^^xsd:string) AnnotationAssertion( "interstitial emphysema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10030"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary interstitial emphysema"^^xsd:string) SubClassOf( ) # Class: (compensatory emphysema) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pneumatosis"^^xsd:string) Annotation( "https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27"^^xsd:string) "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J98.3"^^xsd:string) AnnotationAssertion( "ICD9CM:518.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10031"^^xsd:string) AnnotationAssertion(rdfs:label "compensatory emphysema"^^xsd:string) SubClassOf( ) # Class: (hyperlucent lung) AnnotationAssertion(Annotation( "https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/"^^xsd:string) "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D019568"^^xsd:string) AnnotationAssertion( "Hyperlucent Lungs"^^xsd:string) AnnotationAssertion( "Hyperlucent Thorax"^^xsd:string) AnnotationAssertion( "MacLeod Syndrome"^^xsd:string) AnnotationAssertion( "Swyer James Syndrome"^^xsd:string) AnnotationAssertion( "Unilateral Hyperlucent Lung"^^xsd:string) AnnotationAssertion( "Unilateral Hyperlucent Lungs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10032"^^xsd:string) AnnotationAssertion(rdfs:label "hyperlucent lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cycloplegia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cycloplegia"^^xsd:string) "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005758"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.52"^^xsd:string) AnnotationAssertion( "ICD9CM:367.51"^^xsd:string) AnnotationAssertion( "ciliary muscle paresis"^^xsd:string) AnnotationAssertion( "cycloplegic paralysis of accommodation"^^xsd:string) AnnotationAssertion( "paresis of accommodation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10033"^^xsd:string) AnnotationAssertion(rdfs:label "cycloplegia"^^xsd:string) SubClassOf( ) # Class: (eye accommodation disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20582770"^^xsd:string) "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.5"^^xsd:string) AnnotationAssertion( "ICD9CM:367.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10034"^^xsd:string) AnnotationAssertion(rdfs:label "eye accommodation disease"^^xsd:string) SubClassOf( ) # Class: (asymptomatic neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary neurosyphilis that results_in mild meningitis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A52.2"^^xsd:string) AnnotationAssertion( "ICD9CM:094.3"^^xsd:string) AnnotationAssertion( "RDO:9002434"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10035"^^xsd:string) AnnotationAssertion(rdfs:label "asymptomatic neurosyphilis"^^xsd:string) SubClassOf( ) # Class: (late congenital syphilis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Late_congenital_syphilis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string) "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007339"^^xsd:string) AnnotationAssertion( "ICD10CM:A50.40"^^xsd:string) AnnotationAssertion( "ICD10CM:A50.5"^^xsd:string) AnnotationAssertion( "ICD9CM:090.4"^^xsd:string) AnnotationAssertion( "ICD9CM:090.5"^^xsd:string) AnnotationAssertion( "RDO:9002435"^^xsd:string) AnnotationAssertion( "juvenile neurosyphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10039"^^xsd:string) AnnotationAssertion(rdfs:label "late congenital syphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant eyelid melanoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid"^^xsd:string) "A skin melanoma that arises from the upper or lower eyelid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4358"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10040"^^xsd:string) AnnotationAssertion(rdfs:label "malignant eyelid melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dysplastic nevus syndrome) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome"^^xsd:string) "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9281"^^xsd:string) AnnotationAssertion( "MESH:D004416"^^xsd:string) AnnotationAssertion( "B K mole syndrome"^^xsd:string) AnnotationAssertion( "FAMM syndrome"^^xsd:string) AnnotationAssertion( "FAMMM"^^xsd:string) AnnotationAssertion( "dysplastic nevi"^^xsd:string) AnnotationAssertion( "dysplastic nevus"^^xsd:string) AnnotationAssertion( "familial atypical multiple mole-melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10041"^^xsd:string) AnnotationAssertion(rdfs:label "dysplastic nevus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (balloon cell malignant melanoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27984232/"^^xsd:string) "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4227"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10044"^^xsd:string) AnnotationAssertion(rdfs:label "balloon cell malignant melanoma"^^xsd:string) SubClassOf( ) # Class: (nodular malignant melanoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nodular_melanoma"^^xsd:string) Annotation( "http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/"^^xsd:string) "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008515"^^xsd:string) AnnotationAssertion( "GARD:9961"^^xsd:string) AnnotationAssertion( "NCI:C4225"^^xsd:string) AnnotationAssertion( "RDO:9003243"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:2142002"^^xsd:string) "nodular melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10047"^^xsd:string) AnnotationAssertion(rdfs:label "nodular malignant melanoma"^^xsd:string) SubClassOf( ) # Class: (endometrial disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25100707"^^xsd:string) "A uterine disease that is located_in the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C3504"^^xsd:string) AnnotationAssertion( "endometrial diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1005"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial disease"^^xsd:string) SubClassOf( ) # Class: (skin amelanotic melanoma) AnnotationAssertion(Annotation( "https://dermnetnz.org/topics/amelanotic-melanoma/"^^xsd:string) "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002894"^^xsd:string) AnnotationAssertion( "NCI:C4633"^^xsd:string) AnnotationAssertion( "skin amelanotic malignant melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10054"^^xsd:string) AnnotationAssertion(rdfs:label "skin amelanotic melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subglottis benign neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427"^^xsd:string) "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4426"^^xsd:string) AnnotationAssertion( "subglottic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10069"^^xsd:string) AnnotationAssertion(rdfs:label "subglottis benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (larynx leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20737370"^^xsd:string) "A laryngeal benign neoplasm that derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6027"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10070"^^xsd:string) AnnotationAssertion(rdfs:label "larynx leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (larynx squamous papilloma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK562327/"^^xsd:string) "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C7742"^^xsd:string) AnnotationAssertion( "Laryngeal Squamous Cell Papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10071"^^xsd:string) AnnotationAssertion(rdfs:label "larynx squamous papilloma"^^xsd:string) SubClassOf( ) # Class: (syphilitic meningitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000724.htm"^^xsd:string) "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8731"^^xsd:string) AnnotationAssertion( "ICD9CM:094.2"^^xsd:string) AnnotationAssertion( "MESH:C536775"^^xsd:string) AnnotationAssertion( "meningeal syphilis"^^xsd:string) AnnotationAssertion( "syphilitic aseptic meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10073"^^xsd:string) AnnotationAssertion(rdfs:label "syphilitic meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hymenolepiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hymenolepiasis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007317"^^xsd:string) AnnotationAssertion( "GARD:2787"^^xsd:string) AnnotationAssertion( "ICD10CM:B71.0"^^xsd:string) AnnotationAssertion( "ICD9CM:123.6"^^xsd:string) AnnotationAssertion( "MESH:D006925"^^xsd:string) AnnotationAssertion( "NCI:C84768"^^xsd:string) AnnotationAssertion( "Hymenolepiases"^^xsd:string) AnnotationAssertion( "Hymenolepis Infection"^^xsd:string) AnnotationAssertion( "Hymenolepis Infections"^^xsd:string) AnnotationAssertion( "dwarf tapeworm infection"^^xsd:string) AnnotationAssertion( "hymenolepis infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10074"^^xsd:string) AnnotationAssertion(rdfs:label "hymenolepiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diphyllobothriasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diphyllobothrium"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007238"^^xsd:string) AnnotationAssertion( "GARD:942"^^xsd:string) AnnotationAssertion( "ICD10CM:B70.0"^^xsd:string) AnnotationAssertion( "ICD9CM:123.4"^^xsd:string) AnnotationAssertion( "MESH:D004169"^^xsd:string) AnnotationAssertion( "NCI:C128391"^^xsd:string) AnnotationAssertion( "Diphyllobothriases"^^xsd:string) AnnotationAssertion( "Diphyllobothrium infection"^^xsd:string) AnnotationAssertion( "fish tapeworm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10075"^^xsd:string) AnnotationAssertion(rdfs:label "diphyllobothriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cysticercosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cysticercosis"^^xsd:string) "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007231"^^xsd:string) AnnotationAssertion( "GARD:8194"^^xsd:string) AnnotationAssertion( "ICD10CM:B69"^^xsd:string) AnnotationAssertion( "ICD9CM:123.1"^^xsd:string) AnnotationAssertion( "MESH:D003551"^^xsd:string) AnnotationAssertion( "NCI:C34520"^^xsd:string) AnnotationAssertion( "cysticercoses"^^xsd:string) AnnotationAssertion( "intestinal taenia solium infection"^^xsd:string) AnnotationAssertion( "pork tapeworm infection"^^xsd:string) AnnotationAssertion( "tapeworm infection intestinal taenia solum"^^xsd:string) AnnotationAssertion( "tenia solium infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10079"^^xsd:string) AnnotationAssertion(rdfs:label "cysticercosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sparganosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sparganosis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007488"^^xsd:string) AnnotationAssertion( "ICD10CM:B70.1"^^xsd:string) AnnotationAssertion( "ICD9CM:123.5"^^xsd:string) AnnotationAssertion( "MESH:D013031"^^xsd:string) AnnotationAssertion( "NCI:C35030"^^xsd:string) AnnotationAssertion( "infection by Sparganum"^^xsd:string) AnnotationAssertion( "sparganoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10080"^^xsd:string) AnnotationAssertion(rdfs:label "sparganosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (syphilitic encephalitis) AnnotationAssertion(Annotation( "https://link.springer.com/article/10.1007/s10072-017-3109-0"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/"^^xsd:string) "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:094.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10081"^^xsd:string) AnnotationAssertion(rdfs:label "syphilitic encephalitis"^^xsd:string) SubClassOf( ) # Class: (gastric leiomyoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/gastric-leiomyoma?lang=us"^^xsd:string) "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3876"^^xsd:string) AnnotationAssertion( "leiomyoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10087"^^xsd:string) AnnotationAssertion(rdfs:label "gastric leiomyoma"^^xsd:string) SubClassOf( ) # Class: (intracranial abscess) AnnotationAssertion(Annotation( "https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm"^^xsd:string) "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:324.0"^^xsd:string) AnnotationAssertion( "NCI:C34734"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10095"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial abscess"^^xsd:string) SubClassOf( ) # Class: (sleeping sickness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/African_trypanosomiasis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs259/en/"^^xsd:string) "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005225"^^xsd:string) AnnotationAssertion( "GARD:7826"^^xsd:string) AnnotationAssertion( "ICD10CM:B56"^^xsd:string) AnnotationAssertion( "ICD9CM:086.5"^^xsd:string) AnnotationAssertion( "MESH:D014353"^^xsd:string) AnnotationAssertion( "NCI:C84541"^^xsd:string) AnnotationAssertion( "ORDO:3385"^^xsd:string) AnnotationAssertion( "African sleeping sickness"^^xsd:string) AnnotationAssertion( "African trypanosomiasis"^^xsd:string) AnnotationAssertion( "Nagana"^^xsd:string) AnnotationAssertion( "human African trypanosomiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10112"^^xsd:string) AnnotationAssertion(rdfs:label "sleeping sickness"^^xsd:string) SubClassOf( ) # Class: (trypanosomiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trypanosomiasis"^^xsd:string) "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B57.2"^^xsd:string) AnnotationAssertion( "ICD9CM:086"^^xsd:string) AnnotationAssertion( "MESH:D014352"^^xsd:string) AnnotationAssertion( "Trypanosomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10113"^^xsd:string) AnnotationAssertion(rdfs:label "trypanosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperpigmentation of eyelid) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/"^^xsd:string) "An eyelid disease that is characterized by dark eyelids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145100"^^xsd:string) AnnotationAssertion( "EFO:1000711"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.71"^^xsd:string) AnnotationAssertion( "ICD9CM:374.52"^^xsd:string) AnnotationAssertion( "MESH:C562400"^^xsd:string) AnnotationAssertion( "dark eyelids"^^xsd:string) AnnotationAssertion( "dyspigmentation of eyelid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10122"^^xsd:string) AnnotationAssertion(rdfs:label "hyperpigmentation of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pigmentation disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/skinpigmentationdisorders.html"^^xsd:string) "A skin disease that is characterized by discoloration of the skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000755"^^xsd:string) AnnotationAssertion( "ICD9CM:709.09"^^xsd:string) AnnotationAssertion( "MESH:D010859"^^xsd:string) AnnotationAssertion( "MIM:PS227220"^^xsd:string) AnnotationAssertion( "Ito Syndrome"^^xsd:string) AnnotationAssertion( "Pigmentation Disorder"^^xsd:string) AnnotationAssertion( "Pigmentation Disorders"^^xsd:string) AnnotationAssertion( "Schamberg Disease"^^xsd:string) AnnotationAssertion( "Schamberg's Disease"^^xsd:string) AnnotationAssertion( "Schambergs disease"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti achromians"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10123"^^xsd:string) AnnotationAssertion(rdfs:label "pigmentation disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731"^^xsd:string) "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009464"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.9"^^xsd:string) AnnotationAssertion( "ICD9CM:371.9"^^xsd:string) AnnotationAssertion( "MESH:D003316"^^xsd:string) AnnotationAssertion( "NCI:C26731"^^xsd:string) AnnotationAssertion( "corneal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10124"^^xsd:string) AnnotationAssertion(rdfs:label "corneal disease"^^xsd:string) SubClassOf( ) # Class: (acute hydrops keratoconus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Corneal_hydrops"^^xsd:string) Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm"^^xsd:string) "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:371.62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10125"^^xsd:string) AnnotationAssertion(rdfs:label "acute hydrops keratoconus"^^xsd:string) SubClassOf( ) # Class: (keratoconus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Keratoconus"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=keratoconus"^^xsd:string) "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004223"^^xsd:string) AnnotationAssertion( "GARD:6824"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.6"^^xsd:string) AnnotationAssertion( "ICD9CM:371.6"^^xsd:string) AnnotationAssertion( "MESH:D007640"^^xsd:string) AnnotationAssertion( "MIM:PS148300"^^xsd:string) AnnotationAssertion( "MONDO:0015486"^^xsd:string) AnnotationAssertion( "NCI:C26806"^^xsd:string) AnnotationAssertion( "ORDO:156071"^^xsd:string) AnnotationAssertion( "conical cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10126"^^xsd:string) AnnotationAssertion(rdfs:label "keratoconus"^^xsd:string) SubClassOf( ) # Class: (cerebral artery occlusion) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8584085/"^^xsd:string) "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:434"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10127"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral artery occlusion"^^xsd:string) SubClassOf( ) # Class: (venous insufficiency) AnnotationAssertion(Annotation( "http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm"^^xsd:string) "A vein disease that is characterized by impaired flow of blood through the veins. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:459.81"^^xsd:string) AnnotationAssertion( "MESH:D014689"^^xsd:string) AnnotationAssertion( "NCI:C127822"^^xsd:string) AnnotationAssertion( "Venous Insufficiencies"^^xsd:string) AnnotationAssertion( "peripheral venous insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10128"^^xsd:string) AnnotationAssertion(rdfs:label "venous insufficiency"^^xsd:string) SubClassOf( ) # Class: (psychologic vaginismus) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/15723-vaginismus"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113"^^xsd:string) "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F52.5"^^xsd:string) AnnotationAssertion( "ICD9CM:306.51"^^xsd:string) AnnotationAssertion( "MESH:D052065"^^xsd:string) AnnotationAssertion( "NCI:C35113"^^xsd:string) AnnotationAssertion( "functional vaginismus"^^xsd:string) AnnotationAssertion( "non-organic vaginismus"^^xsd:string) AnnotationAssertion( "psychogenic vaginismus"^^xsd:string) AnnotationAssertion( "vaginismus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10131"^^xsd:string) AnnotationAssertion(rdfs:label "psychologic vaginismus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (psychosexual disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Psychosexual_disorder"^^xsd:string) "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:302.79"^^xsd:string) AnnotationAssertion( "psychological sexual dysfunction"^^xsd:string) AnnotationAssertion( "psychological sexual dysfunctions"^^xsd:string) AnnotationAssertion( "psychosexual disorders"^^xsd:string) AnnotationAssertion( "psychosexual dysfunction"^^xsd:string) AnnotationAssertion( "psychosexual dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10132"^^xsd:string) AnnotationAssertion(rdfs:label "psychosexual disorder"^^xsd:string) SubClassOf( ) # Class: (xerophthalmia) AnnotationAssertion(Annotation( "https://www.nature.com/articles/eye201417"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK431094/"^^xsd:string) "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E50.7"^^xsd:string) AnnotationAssertion( "ICD9CM:375.15"^^xsd:string) AnnotationAssertion( "MESH:D014985"^^xsd:string) AnnotationAssertion( "NCI:C34503"^^xsd:string) AnnotationAssertion( "Xerophthalmias"^^xsd:string) AnnotationAssertion( "conjunctival xerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10138"^^xsd:string) AnnotationAssertion(rdfs:label "xerophthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctival degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.10"^^xsd:string) AnnotationAssertion( "ICD9CM:372.50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10139"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dry eye syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29498987/"^^xsd:string) "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000906"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.12"^^xsd:string) AnnotationAssertion( "MESH:D015352"^^xsd:string) AnnotationAssertion( "NCI:C34553"^^xsd:string) AnnotationAssertion( "dry eye disease"^^xsd:string) AnnotationAssertion( "dry eye syndromes"^^xsd:string) AnnotationAssertion( "tear film insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10140"^^xsd:string) AnnotationAssertion(rdfs:label "dry eye syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (thymus lymphoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12063471/"^^xsd:string) "A thymus cancer that arises from the thymus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000054"^^xsd:string) AnnotationAssertion( "NCI:C134997"^^xsd:string) AnnotationAssertion( "NCI:C6451"^^xsd:string) AnnotationAssertion( "lymphoma of thymus"^^xsd:string) AnnotationAssertion( "primary thymic lymphoma"^^xsd:string) AnnotationAssertion( "thymic lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10146"^^xsd:string) AnnotationAssertion(rdfs:label "thymus lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long bones of lower limb cancer) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm"^^xsd:string) "A bone cancer that is manifested in the long bones of the lower limb. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C40.2"^^xsd:string) AnnotationAssertion( "ICD9CM:170.7"^^xsd:string) AnnotationAssertion( "malignant neoplasm of long bones of leg"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10149"^^xsd:string) AnnotationAssertion(rdfs:label "long bones of lower limb cancer"^^xsd:string) SubClassOf( ) # Class: (malignant neoplasm of short bones of lower limb) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/"^^xsd:string) "A bone cancer that is located in the short bones of lower limbs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C40.3"^^xsd:string) AnnotationAssertion( "ICD9CM:170.8"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:94003005"^^xsd:string) "malignant neoplasm of short bone of lower limb"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187964009"^^xsd:string) "malignant neoplasm of short bones of leg"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10151"^^xsd:string) AnnotationAssertion(rdfs:label "malignant neoplasm of short bones of lower limb"^^xsd:string) SubClassOf( ) # Class: (Meckel's diverticulum cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582065/"^^xsd:string) "An ileum cancer originating from Meckel's diverticulum. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:152.3"^^xsd:string) AnnotationAssertion( "Meckel diverticulum cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of Meckel's diverticulum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10152"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel's diverticulum cancer"^^xsd:string) SubClassOf( ) # Class: (ileum cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ileum"^^xsd:string) "A small intestine cancer that is located_in the ileum. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C17.2"^^xsd:string) AnnotationAssertion( "ICD9CM:152.2"^^xsd:string) AnnotationAssertion( "cancer of ileum"^^xsd:string) AnnotationAssertion( "cancer of the ileum"^^xsd:string) AnnotationAssertion( "ileal cancer"^^xsd:string) AnnotationAssertion( "ileal cancers"^^xsd:string) AnnotationAssertion( "ileum cancers"^^xsd:string) AnnotationAssertion( "malignant neoplasm of ileum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10153"^^xsd:string) AnnotationAssertion(rdfs:label "ileum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small intestine cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Small_intestine"^^xsd:string) "An intestinal cancer that is located_in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9385"^^xsd:string) AnnotationAssertion( "ICD10CM:C17"^^xsd:string) AnnotationAssertion( "ICD9CM:152.9"^^xsd:string) AnnotationAssertion( "MONDO:0000956"^^xsd:string) AnnotationAssertion( "NCI:C7523"^^xsd:string) AnnotationAssertion( "malignant small intestine neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10154"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine cancer"^^xsd:string) SubClassOf( ) # Class: (intestinal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Intestine"^^xsd:string) "A gastrointestinal system cancer that is located_in the intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007330"^^xsd:string) AnnotationAssertion( "ICD10CM:C26.0"^^xsd:string) AnnotationAssertion( "ICD9CM:159.0"^^xsd:string) AnnotationAssertion( "NCI:C4572"^^xsd:string) AnnotationAssertion( "intestinal cancers"^^xsd:string) AnnotationAssertion( "intestines cancer"^^xsd:string) AnnotationAssertion( "malignant intestinal tumors"^^xsd:string) AnnotationAssertion( "malignant neoplasm of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10155"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign ileal neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130"^^xsd:string) "A small intestine benign neoplasm that affects the wall of the ileum. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10156"^^xsd:string) AnnotationAssertion(rdfs:label "benign ileal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteonecrosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Avascular_necrosis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm"^^xsd:string) "An ischemic bone disease that results_in necrosis located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004259"^^xsd:string) AnnotationAssertion( "ICD10CM:M87"^^xsd:string) AnnotationAssertion( "ICD10CM:M87.9"^^xsd:string) AnnotationAssertion( "ICD9CM:732.3"^^xsd:string) AnnotationAssertion( "ICD9CM:733.41"^^xsd:string) AnnotationAssertion( "ICD9CM:733.42"^^xsd:string) AnnotationAssertion( "ICD9CM:733.43"^^xsd:string) AnnotationAssertion( "ICD9CM:733.44"^^xsd:string) AnnotationAssertion( "MESH:D010020"^^xsd:string) AnnotationAssertion( "MIM:PS608805"^^xsd:string) AnnotationAssertion( "NCI:C34404"^^xsd:string) AnnotationAssertion( "NCI:C34841"^^xsd:string) AnnotationAssertion( "NCI:C34880"^^xsd:string) AnnotationAssertion( "NCI:C35226"^^xsd:string) AnnotationAssertion( "NCI:C35517"^^xsd:string) AnnotationAssertion( "Bone Aseptic Necrosis"^^xsd:string) AnnotationAssertion( "Bone Avascular Necrosis"^^xsd:string) AnnotationAssertion( "Bone Necrosis"^^xsd:string) AnnotationAssertion( "aseptic necrosis"^^xsd:string) AnnotationAssertion( "aseptic necrosis of bone"^^xsd:string) AnnotationAssertion( "avascular necrosis of bone"^^xsd:string) AnnotationAssertion( "bone necroses"^^xsd:string) AnnotationAssertion( "osteonecroses"^^xsd:string) AnnotationAssertion( "Kienbock Disease"^^xsd:string) AnnotationAssertion( "Kienbock's Disease"^^xsd:string) AnnotationAssertion( "Kienboeck Disease"^^xsd:string) AnnotationAssertion( "Kienboeck's disease"^^xsd:string) AnnotationAssertion( "Kienboecks disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10159"^^xsd:string) AnnotationAssertion(rdfs:label "osteonecrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal passage granuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.81"^^xsd:string) AnnotationAssertion( "ICD9CM:375.81"^^xsd:string) AnnotationAssertion( "RDO:9004728"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:375.81"^^xsd:string) "Granuloma of lacrimal passages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10174"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal passage granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (optic papillitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Optic_papillitis"^^xsd:string) "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001074"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.81"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.1"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.11"^^xsd:string) AnnotationAssertion( "ICD9CM:362.83"^^xsd:string) AnnotationAssertion( "ICD9CM:377.0"^^xsd:string) AnnotationAssertion( "ICD9CM:377.01"^^xsd:string) AnnotationAssertion( "papillitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10175"^^xsd:string) AnnotationAssertion(rdfs:label "optic papillitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroretinitis) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Neuroretinitis"^^xsd:string) "An eye disease that is characterized by inflammation of the retina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "juxtapapillary focal retinitis and retinochoroiditis"^^xsd:string) AnnotationAssertion( "papilloretinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10176"^^xsd:string) AnnotationAssertion(rdfs:label "neuroretinitis"^^xsd:string) SubClassOf( ) # Class: (malignant hypertensive renal disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002843"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10177"^^xsd:string) AnnotationAssertion(rdfs:label "malignant hypertensive renal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (endobronchial lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/"^^xsd:string) "A lipoma that is located within the lumen of a bronchus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10183"^^xsd:string) AnnotationAssertion(rdfs:label "endobronchial lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell lipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipoma"^^xsd:string) "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8857/0"^^xsd:string) AnnotationAssertion( "NCI:C4254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10184"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell lipoma"^^xsd:string) SubClassOf( ) # Class: (esophageal lipoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/oesophageal-lipoma?lang=us"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/"^^xsd:string) "A lipoma located in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5701"^^xsd:string) AnnotationAssertion( "lipoma of esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10187"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (skin lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23600336"^^xsd:string) "A skin benign neoplasm that derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:214.0"^^xsd:string) AnnotationAssertion( "NCI:C4616"^^xsd:string) AnnotationAssertion( "NCI:C5566"^^xsd:string) AnnotationAssertion( "cutaneous lipoma"^^xsd:string) AnnotationAssertion( "cutaneous lipomatous tumor"^^xsd:string) AnnotationAssertion( "lipoma of face"^^xsd:string) AnnotationAssertion( "lipoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10188"^^xsd:string) AnnotationAssertion(rdfs:label "skin lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteomyelitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteomyelitis"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osteomyelitis/DS00759"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm"^^xsd:string) "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003102"^^xsd:string) AnnotationAssertion( "GARD:7286"^^xsd:string) AnnotationAssertion( "ICD9CM:730.1"^^xsd:string) AnnotationAssertion( "MESH:D010019"^^xsd:string) AnnotationAssertion( "osteomyelitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1019"^^xsd:string) AnnotationAssertion(rdfs:label "osteomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver lipoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us"^^xsd:string) "A lipoma located in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5750"^^xsd:string) AnnotationAssertion( "hepatic lipoma"^^xsd:string) AnnotationAssertion( "lipoma of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10190"^^xsd:string) AnnotationAssertion(rdfs:label "liver lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleomorphic lipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleomorphic_lipoma"^^xsd:string) "A lipoma that is characterized by floret giant cells with overlapping nuclei. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8854/0"^^xsd:string) AnnotationAssertion( "NCI:C3703"^^xsd:string) AnnotationAssertion( "pleomorphic lipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10192"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic lipoma"^^xsd:string) SubClassOf( ) # Class: (conventional lipoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26857660/"^^xsd:string) "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27530"^^xsd:string) AnnotationAssertion( "classic type lipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10193"^^xsd:string) AnnotationAssertion(rdfs:label "conventional lipoma"^^xsd:string) SubClassOf( ) # Class: (kidney lipoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470"^^xsd:string) "A lipoma that is located in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5101"^^xsd:string) AnnotationAssertion( "lipoma of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10194"^^xsd:string) AnnotationAssertion(rdfs:label "kidney lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleural lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29222220"^^xsd:string) "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6644"^^xsd:string) AnnotationAssertion( "lipoma of pleura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10195"^^xsd:string) AnnotationAssertion(rdfs:label "pleural lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast lipoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "A breast benign neoplasm that is composed of lipocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4647"^^xsd:string) AnnotationAssertion( "lipoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10199"^^xsd:string) AnnotationAssertion(rdfs:label "breast lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chest wall lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23919840"^^xsd:string) "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6719"^^xsd:string) AnnotationAssertion( "lipoma of the chest wall"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10200"^^xsd:string) AnnotationAssertion(rdfs:label "chest wall lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder lipoma) AnnotationAssertion(Annotation( "https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1"^^xsd:string) "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5835"^^xsd:string) AnnotationAssertion( "lipoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10201"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (external ear lipoma) AnnotationAssertion(Annotation( "https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf"^^xsd:string) "An auditory system benign neoplasm that is located in the external ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4618"^^xsd:string) AnnotationAssertion( "external auditory meatus lipoma"^^xsd:string) AnnotationAssertion( "lipoma of external auditory meatus"^^xsd:string) AnnotationAssertion( "lipoma of the external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10203"^^xsd:string) AnnotationAssertion(rdfs:label "external ear lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (axillary lipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Axilla"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Lipoma"^^xsd:string) "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35419"^^xsd:string) AnnotationAssertion( "lipoma of axilla"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10205"^^xsd:string) AnnotationAssertion(rdfs:label "axillary lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipoma of spermatic cord) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/"^^xsd:string) "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:214.4"^^xsd:string) AnnotationAssertion( "NCI:C3606"^^xsd:string) AnnotationAssertion( "spermatic cord lipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10206"^^xsd:string) AnnotationAssertion(rdfs:label "lipoma of spermatic cord"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (paratesticular lipoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11103506/"^^xsd:string) "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6384"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10207"^^xsd:string) AnnotationAssertion(rdfs:label "paratesticular lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chondroid lipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipoma"^^xsd:string) "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8862/0"^^xsd:string) AnnotationAssertion( "NCI:C6503"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10208"^^xsd:string) AnnotationAssertion(rdfs:label "chondroid lipoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic bile duct lipoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer"^^xsd:string) "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5854"^^xsd:string) AnnotationAssertion( "RDO:9003931"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5854"^^xsd:string) "Lipoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10209"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cholelithiasis) AnnotationAssertion(Annotation( "MESH:D002769"^^xsd:string) "Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)."^^xsd:string) AnnotationAssertion( "EFO:0004799"^^xsd:string) AnnotationAssertion( "ICD9CM:574.5"^^xsd:string) AnnotationAssertion( "MESH:D002769"^^xsd:string) AnnotationAssertion( "Cholelithiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10211"^^xsd:string) AnnotationAssertion(rdfs:label "cholelithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pinta disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26304920"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001396"^^xsd:string) AnnotationAssertion( "GARD:7397"^^xsd:string) AnnotationAssertion( "ICD10CM:A67.0"^^xsd:string) AnnotationAssertion( "ICD10CM:A67.1"^^xsd:string) AnnotationAssertion( "ICD10CM:A67.2"^^xsd:string) AnnotationAssertion( "ICD10CM:A67.3"^^xsd:string) AnnotationAssertion( "ICD10CM:A67.9"^^xsd:string) AnnotationAssertion( "ICD9CM:103"^^xsd:string) AnnotationAssertion( "ICD9CM:103.0"^^xsd:string) AnnotationAssertion( "ICD9CM:103.1"^^xsd:string) AnnotationAssertion( "ICD9CM:103.2"^^xsd:string) AnnotationAssertion( "ICD9CM:103.3"^^xsd:string) AnnotationAssertion( "MESH:D010874"^^xsd:string) AnnotationAssertion( "NCI:C85011"^^xsd:string) AnnotationAssertion( "pinta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1022"^^xsd:string) AnnotationAssertion(rdfs:label "pinta disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dermatomyositis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatomyositis"^^xsd:string) Annotation( "http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis"^^xsd:string) "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000398"^^xsd:string) AnnotationAssertion( "EFO:1001995"^^xsd:string) AnnotationAssertion( "GARD:6263"^^xsd:string) AnnotationAssertion( "ICD10CM:M33"^^xsd:string) AnnotationAssertion( "ICD9CM:710.3"^^xsd:string) AnnotationAssertion( "MESH:D003882"^^xsd:string) AnnotationAssertion( "NCI:C26744"^^xsd:string) AnnotationAssertion( "ORDO:221"^^xsd:string) AnnotationAssertion( "Dermatopolymyositis"^^xsd:string) AnnotationAssertion( "dermatomyositides"^^xsd:string) AnnotationAssertion( "dermatopolymyositides"^^xsd:string) AnnotationAssertion( "polymyositis dermatomyositis"^^xsd:string) AnnotationAssertion( "polymyositis with skin involvement"^^xsd:string) AnnotationAssertion( "polymyositis-dermatomyositides"^^xsd:string) AnnotationAssertion( "sclerodermatomyositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10223"^^xsd:string) AnnotationAssertion(rdfs:label "dermatomyositis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (borderline leprosy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Borderline_leprosy"^^xsd:string) "A leprosy that results in small numerous red irregularly shaped plaques. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001055"^^xsd:string) AnnotationAssertion( "ICD10CM:A30.3"^^xsd:string) AnnotationAssertion( "ICD9CM:030.3"^^xsd:string) AnnotationAssertion( "MESH:D015439"^^xsd:string) AnnotationAssertion( "Borderline Leprosies"^^xsd:string) AnnotationAssertion( "Dimorphous Leprosies"^^xsd:string) AnnotationAssertion( "Dimorphous Leprosy"^^xsd:string) AnnotationAssertion( "borderline or dimorphous leprosy"^^xsd:string) AnnotationAssertion( "midborderline leprosy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1023"^^xsd:string) AnnotationAssertion(rdfs:label "borderline leprosy"^^xsd:string) SubClassOf( ) # Class: (aortic atherosclerosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I70.0"^^xsd:string) AnnotationAssertion( "ICD9CM:440.0"^^xsd:string) AnnotationAssertion( "atherosclerosis of aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10230"^^xsd:string) AnnotationAssertion(rdfs:label "aortic atherosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histoplasmosis pericarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:115.93"^^xsd:string) AnnotationAssertion( "histoplasmosis with pericarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10234"^^xsd:string) AnnotationAssertion(rdfs:label "histoplasmosis pericarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brown's tendon sheath syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/brown-syndrome/"^^xsd:string) "A mechanical strabismus that is characterized by impairment of eye movements. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5963"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.61"^^xsd:string) AnnotationAssertion( "ICD9CM:378.61"^^xsd:string) AnnotationAssertion( "Brown tendon sheath syndrome"^^xsd:string) AnnotationAssertion( "Brown's sheath syndrome"^^xsd:string) AnnotationAssertion( "tendon sheath syndrome of Brown"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10235"^^xsd:string) AnnotationAssertion(rdfs:label "Brown's tendon sheath syndrome"^^xsd:string) SubClassOf( ) # Class: (exhibitionism) AnnotationAssertion(Annotation( "https://www.britannica.com/topic/exhibitionism"^^xsd:string) "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F65.2"^^xsd:string) AnnotationAssertion( "ICD9CM:302.4"^^xsd:string) AnnotationAssertion( "MESH:D005084"^^xsd:string) AnnotationAssertion( "NCI:C94352"^^xsd:string) AnnotationAssertion( "exhibitionisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10236"^^xsd:string) AnnotationAssertion(rdfs:label "exhibitionism"^^xsd:string) SubClassOf( ) # Class: (leprosy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leprosy"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. (DO)"^^xsd:string) AnnotationAssertion( "MIM:246300"^^xsd:string) AnnotationAssertion( "MIM:607572"^^xsd:string) AnnotationAssertion( "MIM:609888"^^xsd:string) AnnotationAssertion( "MIM:610988"^^xsd:string) AnnotationAssertion( "MIM:613223"^^xsd:string) AnnotationAssertion( "MIM:613407"^^xsd:string) AnnotationAssertion( "EFO:0001054"^^xsd:string) AnnotationAssertion( "GARD:6886"^^xsd:string) AnnotationAssertion( "ICD10CM:A30"^^xsd:string) AnnotationAssertion( "ICD9CM:030"^^xsd:string) AnnotationAssertion( "MESH:D007918"^^xsd:string) AnnotationAssertion( "NCI:C84824"^^xsd:string) AnnotationAssertion( "ORDO:548"^^xsd:string) AnnotationAssertion( "Hansen disease"^^xsd:string) AnnotationAssertion( "Hansen's disease"^^xsd:string) AnnotationAssertion( "Hansens Disease"^^xsd:string) AnnotationAssertion( "LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "Leprosies"^^xsd:string) AnnotationAssertion( "LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "LEPROSY, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LPRS1"^^xsd:string) AnnotationAssertion( "LPRS2"^^xsd:string) AnnotationAssertion( "LPRS3"^^xsd:string) AnnotationAssertion( "LPRS4"^^xsd:string) AnnotationAssertion( "LPRS5"^^xsd:string) AnnotationAssertion( "LPRS6"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "leprosy, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "susceptibility to leprosy and multibacillary leprosy"^^xsd:string) AnnotationAssertion( "DOID:1024"^^xsd:string) AnnotationAssertion(rdfs:label "leprosy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thalassemia) AnnotationAssertion(Annotation( "https://www.genome.gov/Genetic-Disorders/Thalassemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11283697"^^xsd:string) "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001996"^^xsd:string) AnnotationAssertion( "GARD:7756"^^xsd:string) AnnotationAssertion( "ICD10CM:D56"^^xsd:string) AnnotationAssertion( "ICD9CM:282.4"^^xsd:string) AnnotationAssertion( "MESH:D013789"^^xsd:string) AnnotationAssertion( "MONDO:0000984"^^xsd:string) AnnotationAssertion( "NCI:C35069"^^xsd:string) AnnotationAssertion( "sickle-cell thalassemia with crisis"^^xsd:string) AnnotationAssertion( "sickle-cell thalassemia without crisis"^^xsd:string) AnnotationAssertion( "thalassemia Hb-S disease with crisis"^^xsd:string) AnnotationAssertion( "thalassemia Hb-S disease without crisis"^^xsd:string) AnnotationAssertion( "thalassemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore (Augusta)"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore (Baltimore)"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore (Boston)"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore (Hollandia)"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore (Washington)"^^xsd:string) AnnotationAssertion( "Hemoglobin Lepore Trait"^^xsd:string) AnnotationAssertion( "Hemoglobin Pylos"^^xsd:string) AnnotationAssertion( "hemoglobin J (Baltimore)"^^xsd:string) AnnotationAssertion( "hemoglobin Karatsu"^^xsd:string) AnnotationAssertion( "hemoglobin Riyadh"^^xsd:string) AnnotationAssertion( "hemoglobin Tunis-Bizerte"^^xsd:string) AnnotationAssertion( "DOID:10241"^^xsd:string) AnnotationAssertion(rdfs:label "thalassemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ehrlichiosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ehrlichiosis"^^xsd:string) "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2092"^^xsd:string) AnnotationAssertion( "ICD10CM:A77.4"^^xsd:string) AnnotationAssertion( "ICD9CM:082.4"^^xsd:string) AnnotationAssertion( "MESH:D016873"^^xsd:string) AnnotationAssertion( "Ehrlichioses"^^xsd:string) AnnotationAssertion( "human ehrlichiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10242"^^xsd:string) AnnotationAssertion(rdfs:label "ehrlichiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pleurisy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleurisy"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2"^^xsd:string) "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001825"^^xsd:string) AnnotationAssertion( "ICD10CM:R09.1"^^xsd:string) AnnotationAssertion( "ICD9CM:511.8"^^xsd:string) AnnotationAssertion( "MESH:D010998"^^xsd:string) AnnotationAssertion( "NCI:C26860"^^xsd:string) AnnotationAssertion( "pleurisies"^^xsd:string) AnnotationAssertion( "pleuritides"^^xsd:string) AnnotationAssertion( "pleuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10247"^^xsd:string) AnnotationAssertion(rdfs:label "pleurisy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberculoid leprosy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tuberculoid_leprosy"^^xsd:string) "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001056"^^xsd:string) AnnotationAssertion( "ICD10CM:A30.1"^^xsd:string) AnnotationAssertion( "ICD9CM:030.1"^^xsd:string) AnnotationAssertion( "MESH:D015441"^^xsd:string) AnnotationAssertion( "Macular Leprosy"^^xsd:string) AnnotationAssertion( "Neural Leprosies"^^xsd:string) AnnotationAssertion( "Neural Leprosy"^^xsd:string) AnnotationAssertion( "macular leprosies"^^xsd:string) AnnotationAssertion( "smooth leprosy"^^xsd:string) AnnotationAssertion( "tuberculoid leprosies"^^xsd:string) AnnotationAssertion( "type T leprosy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1025"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculoid leprosy"^^xsd:string) SubClassOf( ) # Class: (louping ill) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15606630"^^xsd:string) "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007348"^^xsd:string) AnnotationAssertion( "ICD10CM:A84.89"^^xsd:string) AnnotationAssertion( "ICD9CM:063.1"^^xsd:string) AnnotationAssertion( "MESH:D008146"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10250"^^xsd:string) AnnotationAssertion(rdfs:label "louping ill"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (strawberry gallbladder) AnnotationAssertion( "ICD10CM:K82.4"^^xsd:string) AnnotationAssertion( "ICD9CM:575.6"^^xsd:string) AnnotationAssertion( "cholesterolosis of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10254"^^xsd:string) AnnotationAssertion(rdfs:label "strawberry gallbladder"^^xsd:string) SubClassOf( ) # Class: (otorrhea) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/003042.htm"^^xsd:string) "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H92.1"^^xsd:string) AnnotationAssertion( "ICD9CM:388.6"^^xsd:string) AnnotationAssertion( "NCI:C35199"^^xsd:string) AnnotationAssertion( "discharging ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10261"^^xsd:string) AnnotationAssertion(rdfs:label "otorrhea"^^xsd:string) SubClassOf( ) # Class: (mumps) AnnotationAssertion(Annotation( "http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf"^^xsd:string) "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007383"^^xsd:string) AnnotationAssertion( "GARD:7116"^^xsd:string) AnnotationAssertion( "ICD10CM:B26"^^xsd:string) AnnotationAssertion( "ICD9CM:072"^^xsd:string) AnnotationAssertion( "MESH:D009107"^^xsd:string) AnnotationAssertion( "NCI:C29888"^^xsd:string) AnnotationAssertion( "Mumps virus infectious disease"^^xsd:string) AnnotationAssertion( "epidemic parotitides"^^xsd:string) AnnotationAssertion( "epidemic parotitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10264"^^xsd:string) AnnotationAssertion(rdfs:label "mumps"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (subendocardial infarction acute myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:410.7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10266"^^xsd:string) AnnotationAssertion(rdfs:label "subendocardial infarction acute myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (left bundle branch hemiblock) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I44.60"^^xsd:string) AnnotationAssertion( "ICD9CM:426.2"^^xsd:string) AnnotationAssertion( "RDO:9002668"^^xsd:string) AnnotationAssertion( "left bundle branch block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10272"^^xsd:string) AnnotationAssertion(rdfs:label "left bundle branch hemiblock"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart conduction disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conduction_system_of_the_heart"^^xsd:string) "A cardiovascular system disease that involves the heart's electrical conduction system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005137"^^xsd:string) AnnotationAssertion( "ICD9CM:426.6"^^xsd:string) AnnotationAssertion( "conduction system disorder"^^xsd:string) AnnotationAssertion( "heart rhythm disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10273"^^xsd:string) AnnotationAssertion(rdfs:label "heart conduction disease"^^xsd:string) SubClassOf( ) # Class: (prostate cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=445079"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Prostate-Cancer"^^xsd:string) "A male reproductive organ cancer that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000196"^^xsd:string) AnnotationAssertion( "ICD10CM:C61"^^xsd:string) AnnotationAssertion( "ICD9CM:185"^^xsd:string) AnnotationAssertion( "MIM:176807"^^xsd:string) AnnotationAssertion( "MONDO:0008315"^^xsd:string) AnnotationAssertion( "NCI:C3343"^^xsd:string) AnnotationAssertion( "NCI:C7378"^^xsd:string) AnnotationAssertion( "ORDO:1331"^^xsd:string) AnnotationAssertion( "NGP - new growth of prostate"^^xsd:string) AnnotationAssertion( "cancer of prostate"^^xsd:string) AnnotationAssertion( "cancer of the prostate"^^xsd:string) AnnotationAssertion( "malignant tumor of prostate"^^xsd:string) AnnotationAssertion( "malignant tumor of the prostate"^^xsd:string) AnnotationAssertion( "prostate cancers"^^xsd:string) AnnotationAssertion( "prostatic cancer"^^xsd:string) AnnotationAssertion( "tumor of the prostate"^^xsd:string) AnnotationAssertion( "GEN1-RELATED PROSTATE CANCER"^^xsd:string) AnnotationAssertion( "PROSTATE CANCER, PROGRESSION AND METASTASIS OF"^^xsd:string) AnnotationAssertion( "familial prostate cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CYP3A4 PROMOTER POLYMORPHISM, Cyp3a4-v"^^xsd:string) AnnotationAssertion( "prostate cancer, susceptibility to"^^xsd:string) AnnotationAssertion( "prostate cancer, susceptibility to, in African Americans"^^xsd:string) AnnotationAssertion( "DOID:10283"^^xsd:string) AnnotationAssertion(rdfs:label "prostate cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0001663"^^xsd:string) AnnotationAssertion( "NCI:C128122"^^xsd:string) AnnotationAssertion( "NCI:C4863"^^xsd:string) AnnotationAssertion( "carcinoma of prostate"^^xsd:string) AnnotationAssertion( "metastatic prostate carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10286"^^xsd:string) AnnotationAssertion(rdfs:label "prostate carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23877521"^^xsd:string) "A squamous cell carcinoma that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5536"^^xsd:string) AnnotationAssertion( "RDO:9001822"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5536"^^xsd:string) "squamous cell carcinoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of prostate"^^xsd:string) AnnotationAssertion( "DOID:10287"^^xsd:string) AnnotationAssertion(rdfs:label "prostate squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate malignant phyllodes tumor) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/jo/2009/241270/"^^xsd:string) "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C549759"^^xsd:string) AnnotationAssertion( "NCI:C5531"^^xsd:string) AnnotationAssertion( "malignant phyllodes neoplasm of the prostate"^^xsd:string) AnnotationAssertion( "malignant phyllodes tumor of prostate"^^xsd:string) AnnotationAssertion( "phyllodes tumor of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10289"^^xsd:string) AnnotationAssertion(rdfs:label "prostate malignant phyllodes tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial periodic paralysis) AnnotationAssertion(Annotation( "https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html"^^xsd:string) Annotation( "https://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page"^^xsd:string) "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6422"^^xsd:string) AnnotationAssertion( "MESH:D010245"^^xsd:string) AnnotationAssertion( "NCI:C84709"^^xsd:string) AnnotationAssertion( "familial periodic paralyses"^^xsd:string) AnnotationAssertion( "normokalemic periodic paralyses"^^xsd:string) AnnotationAssertion( "normokalemic periodic paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1029"^^xsd:string) AnnotationAssertion(rdfs:label "familial periodic paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/"^^xsd:string) "A prostate cancer that affects lymphocytes and arises from the prostate gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5533"^^xsd:string) AnnotationAssertion( "lymphoma of prostate"^^xsd:string) AnnotationAssertion( "lymphoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10290"^^xsd:string) AnnotationAssertion(rdfs:label "prostate lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (monocular esotropia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Esotropia"^^xsd:string) "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.01"^^xsd:string) AnnotationAssertion( "ICD9CM:378.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10293"^^xsd:string) AnnotationAssertion(rdfs:label "monocular esotropia"^^xsd:string) SubClassOf( ) # Class: (Raynaud disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/raynaudsdisease.html"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon"^^xsd:string) "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. (DO)"^^xsd:string) AnnotationAssertion( "MIM:179600"^^xsd:string) AnnotationAssertion( "EFO:1001145"^^xsd:string) AnnotationAssertion( "ICD10CM:I73.0"^^xsd:string) AnnotationAssertion( "MESH:D011928"^^xsd:string) AnnotationAssertion( "Raynaud Phenomenon"^^xsd:string) AnnotationAssertion( "Raynaud's disease"^^xsd:string) AnnotationAssertion( "Raynaud's syndrome"^^xsd:string) AnnotationAssertion( "Raynauds disease"^^xsd:string) AnnotationAssertion( "hereditary cold fingers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10300"^^xsd:string) AnnotationAssertion(rdfs:label "Raynaud disease"^^xsd:string) SubClassOf( ) # Class: (parotitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parotitis"^^xsd:string) "A parotid disease characterized by the inflammation of one or both parotid glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007423"^^xsd:string) AnnotationAssertion( "ICD10CM:K11.2"^^xsd:string) AnnotationAssertion( "MESH:D010309"^^xsd:string) AnnotationAssertion( "NCI:C114281"^^xsd:string) AnnotationAssertion( "parotiditides"^^xsd:string) AnnotationAssertion( "parotiditis"^^xsd:string) AnnotationAssertion( "parotitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10301"^^xsd:string) AnnotationAssertion(rdfs:label "parotitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parotid disease) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269"^^xsd:string) "A salivary gland disease that is located in the parotid gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007422"^^xsd:string) AnnotationAssertion( "MESH:D010305"^^xsd:string) AnnotationAssertion( "parotid diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10302"^^xsd:string) AnnotationAssertion(rdfs:label "parotid disease"^^xsd:string) SubClassOf( ) # Class: (sialadenitis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7638/sialadenitis"^^xsd:string) "A salivary gland disease that is characterized as an infection of the salivary glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001179"^^xsd:string) AnnotationAssertion( "GARD:7638"^^xsd:string) AnnotationAssertion( "ICD10CM:K11.20"^^xsd:string) AnnotationAssertion( "ICD9CM:527.2"^^xsd:string) AnnotationAssertion( "MESH:D012793"^^xsd:string) AnnotationAssertion( "NCI:C115165"^^xsd:string) AnnotationAssertion( "NCI:C26882"^^xsd:string) AnnotationAssertion( "Chronic Sialadenitis"^^xsd:string) AnnotationAssertion( "Irradiation Induced Sialadenitis"^^xsd:string) AnnotationAssertion( "Salivary Gland Adenitides"^^xsd:string) AnnotationAssertion( "Salivary Gland Adenitis"^^xsd:string) AnnotationAssertion( "Salivary Gland Inflammation"^^xsd:string) AnnotationAssertion( "Salivary Gland Inflammations"^^xsd:string) AnnotationAssertion( "Sialadenitides"^^xsd:string) AnnotationAssertion( "Sialitides"^^xsd:string) AnnotationAssertion( "Sialitis"^^xsd:string) AnnotationAssertion( "chronic sialadenitides"^^xsd:string) AnnotationAssertion( "irradiation-induced sialadenitides"^^xsd:string) AnnotationAssertion( "sialoadenitides"^^xsd:string) AnnotationAssertion( "sialoadenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10303"^^xsd:string) AnnotationAssertion(rdfs:label "sialadenitis"^^xsd:string) SubClassOf( ) # Class: (viral meningitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Viral_meningitis"^^xsd:string) "A meningitis that has_material_basis_in a viral infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001236"^^xsd:string) AnnotationAssertion( "ICD10CM:A87"^^xsd:string) AnnotationAssertion( "ICD9CM:047.9"^^xsd:string) AnnotationAssertion( "MESH:D008587"^^xsd:string) AnnotationAssertion( "NCI:C118298"^^xsd:string) AnnotationAssertion( "viral meningitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10310"^^xsd:string) AnnotationAssertion(rdfs:label "viral meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocarditis"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/endo/"^^xsd:string) "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000465"^^xsd:string) AnnotationAssertion( "ICD10CM:I33.9"^^xsd:string) AnnotationAssertion( "ICD9CM:421.9"^^xsd:string) AnnotationAssertion( "MESH:D004696"^^xsd:string) AnnotationAssertion( "NCI:C34582"^^xsd:string) AnnotationAssertion( "NCI:C35432"^^xsd:string) AnnotationAssertion( "endocarditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10314"^^xsd:string) AnnotationAssertion(rdfs:label "endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pneumoconiosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pneumoconiosis"^^xsd:string) "An interstitial lung disease that is caused by the inhalation of dust. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J64"^^xsd:string) AnnotationAssertion( "ICD9CM:505"^^xsd:string) AnnotationAssertion( "MESH:D011009"^^xsd:string) AnnotationAssertion( "MONDO:0015926"^^xsd:string) AnnotationAssertion( "NCI:C26861"^^xsd:string) AnnotationAssertion( "pneumoconioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10316"^^xsd:string) AnnotationAssertion(rdfs:label "pneumoconiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mixed mineral dust pneumoconiosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/"^^xsd:string) "A pneumoconiosis caused by the inhalation of mixed mineral dust particles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27559"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10319"^^xsd:string) AnnotationAssertion(rdfs:label "mixed mineral dust pneumoconiosis"^^xsd:string) SubClassOf( ) # Class: (asbestosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Asbestosis"^^xsd:string) "A pneumoconiosis caused by inhalation and retention of asbestos fibers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007153"^^xsd:string) AnnotationAssertion( "GARD:5852"^^xsd:string) AnnotationAssertion( "ICD10CM:J61"^^xsd:string) AnnotationAssertion( "ICD9CM:501"^^xsd:string) AnnotationAssertion( "MESH:D001195"^^xsd:string) AnnotationAssertion( "NCI:C84573"^^xsd:string) AnnotationAssertion( "Asbestoses"^^xsd:string) AnnotationAssertion( "Idiopathic Interstitial Pneumonitis - from Asbestos Exposure"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis - from Asbestos Exposure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10320"^^xsd:string) AnnotationAssertion(rdfs:label "asbestosis"^^xsd:string) SubClassOf( ) # Class: (baritosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8371/baritosis"^^xsd:string) "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8371"^^xsd:string) AnnotationAssertion( "MESH:C537080"^^xsd:string) AnnotationAssertion( "NCI:C34410"^^xsd:string) AnnotationAssertion( "deposition of barium in the lungs"^^xsd:string) AnnotationAssertion( "inhalation of barytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10321"^^xsd:string) AnnotationAssertion(rdfs:label "baritosis"^^xsd:string) SubClassOf( ) # Class: (berylliosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Berylliosis"^^xsd:string) "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007168"^^xsd:string) AnnotationAssertion( "ICD10CM:J63.2"^^xsd:string) AnnotationAssertion( "MESH:D001607"^^xsd:string) AnnotationAssertion( "beryllioses"^^xsd:string) AnnotationAssertion( "beryllium disease"^^xsd:string) AnnotationAssertion( "beryllium poisoning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10322"^^xsd:string) AnnotationAssertion(rdfs:label "berylliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (byssinosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/"^^xsd:string) "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000851"^^xsd:string) AnnotationAssertion( "GARD:5976"^^xsd:string) AnnotationAssertion( "ICD10CM:J66.0"^^xsd:string) AnnotationAssertion( "MESH:D002095"^^xsd:string) AnnotationAssertion( "NCI:C84605"^^xsd:string) AnnotationAssertion( "Brown Lung"^^xsd:string) AnnotationAssertion( "Brown Lung Disease"^^xsd:string) AnnotationAssertion( "Brown Lung Diseases"^^xsd:string) AnnotationAssertion( "Brown Lungs"^^xsd:string) AnnotationAssertion( "Byssinoses"^^xsd:string) AnnotationAssertion( "cotton mill fever"^^xsd:string) AnnotationAssertion( "flax-dressers' disease"^^xsd:string) AnnotationAssertion( "stripper's asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10323"^^xsd:string) AnnotationAssertion(rdfs:label "byssinosis"^^xsd:string) SubClassOf( ) # Class: (anthracosilicosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/"^^xsd:string) "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000813"^^xsd:string) AnnotationAssertion( "ICD10CM:J60"^^xsd:string) AnnotationAssertion( "MESH:D000874"^^xsd:string) AnnotationAssertion( "NCI:C34389"^^xsd:string) AnnotationAssertion( "anthracosilicoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10324"^^xsd:string) AnnotationAssertion(rdfs:label "anthracosilicosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (silicosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Silicosis"^^xsd:string) "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007485"^^xsd:string) AnnotationAssertion( "GARD:7647"^^xsd:string) AnnotationAssertion( "ICD10CM:J62"^^xsd:string) AnnotationAssertion( "ICD10CM:J62.8"^^xsd:string) AnnotationAssertion( "ICD9CM:502"^^xsd:string) AnnotationAssertion( "MESH:D012829"^^xsd:string) AnnotationAssertion( "NCI:C3369"^^xsd:string) AnnotationAssertion( "Silicoses"^^xsd:string) AnnotationAssertion( "pneumoconiosis due to silicates"^^xsd:string) AnnotationAssertion( "silica pneumoconiosis"^^xsd:string) AnnotationAssertion( "silicotic fibrosis of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10325"^^xsd:string) AnnotationAssertion(rdfs:label "silicosis"^^xsd:string) SubClassOf( ) # Class: (Caplan's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Caplan%27s_syndrome"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm"^^xsd:string) "A pneumoconiosis that results_in humans that also have rheumatoid arthritis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007192"^^xsd:string) AnnotationAssertion( "MESH:D002205"^^xsd:string) AnnotationAssertion( "Caplan syndrome"^^xsd:string) AnnotationAssertion( "Caplan syndromes"^^xsd:string) AnnotationAssertion( "Caplan's disease"^^xsd:string) AnnotationAssertion( "Caplans syndrome"^^xsd:string) AnnotationAssertion( "rheumatoid pneumoconiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10326"^^xsd:string) AnnotationAssertion(rdfs:label "Caplan's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anthracosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/"^^xsd:string) "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000814"^^xsd:string) AnnotationAssertion( "ICD9CM:500"^^xsd:string) AnnotationAssertion( "MESH:D055008"^^xsd:string) AnnotationAssertion( "NCI:C34390"^^xsd:string) AnnotationAssertion( "Black Lung"^^xsd:string) AnnotationAssertion( "Black Lung Disease"^^xsd:string) AnnotationAssertion( "Black Lungs"^^xsd:string) AnnotationAssertion( "Coal Miner Lung"^^xsd:string) AnnotationAssertion( "Coal Miner's Lung"^^xsd:string) AnnotationAssertion( "Coal Miner's Lungs"^^xsd:string) AnnotationAssertion( "Coal Miners Lung"^^xsd:string) AnnotationAssertion( "Coal Worker Pneumoconiosis"^^xsd:string) AnnotationAssertion( "Coal Worker's Pneumoconioses"^^xsd:string) AnnotationAssertion( "Coal Worker's Pneumoconiosis"^^xsd:string) AnnotationAssertion( "Coal Workers Pneumoconiosis"^^xsd:string) AnnotationAssertion( "Coalworker Pneumoconiosis"^^xsd:string) AnnotationAssertion( "Coalworker's Pneumoconioses"^^xsd:string) AnnotationAssertion( "anthracoses"^^xsd:string) AnnotationAssertion( "black lung diseases"^^xsd:string) AnnotationAssertion( "coal miner's pneumoconiosis"^^xsd:string) AnnotationAssertion( "coal workers' lung"^^xsd:string) AnnotationAssertion( "coalworker's pneumoconiosis"^^xsd:string) AnnotationAssertion( "coalworkers pneumoconiosis"^^xsd:string) AnnotationAssertion( "melanoedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10327"^^xsd:string) AnnotationAssertion(rdfs:label "anthracosis"^^xsd:string) SubClassOf( ) # Class: (siderosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Siderosis"^^xsd:string) "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7645"^^xsd:string) AnnotationAssertion( "ICD10CM:J63.4"^^xsd:string) AnnotationAssertion( "MESH:D012806"^^xsd:string) AnnotationAssertion( "pulmonary siderosis"^^xsd:string) AnnotationAssertion( "sideroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10328"^^xsd:string) AnnotationAssertion(rdfs:label "siderosis"^^xsd:string) SubClassOf( ) # Class: (pulmonary talcosis) AnnotationAssertion(Annotation( "https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34390717/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34401315/"^^xsd:string) Annotation( "https://radiopaedia.org/articles/talcosis-1"^^xsd:string) "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J62.0"^^xsd:string) AnnotationAssertion( "NCI:C27026"^^xsd:string) AnnotationAssertion( "pneumoconiosis due to talc"^^xsd:string) AnnotationAssertion( "talc pneumoconiosis"^^xsd:string) AnnotationAssertion( "talcosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10329"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary talcosis"^^xsd:string) SubClassOf( ) # Class: (slate pneumoconiosis) AnnotationAssertion(Annotation( "https://academic.oup.com/occmed/article/67/1/20/2420658"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/7426466/"^^xsd:string) "A pneumoconiosis that is caused by exposure to slate dust. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001004"^^xsd:string) AnnotationAssertion( "NCI:C35397"^^xsd:string) AnnotationAssertion( "schistosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10330"^^xsd:string) AnnotationAssertion(rdfs:label "slate pneumoconiosis"^^xsd:string) SubClassOf( ) # Class: (kaolin pneumoconiosis) AnnotationAssertion(Annotation( "https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext"^^xsd:string) "A pneumoconiosis that is caused by inhalation of kaolin dust. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8355"^^xsd:string) AnnotationAssertion( "NCI:C35315"^^xsd:string) AnnotationAssertion( "kaolinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10331"^^xsd:string) AnnotationAssertion(rdfs:label "kaolin pneumoconiosis"^^xsd:string) SubClassOf( ) # Class: (glaucomatous atrophy of optic disc) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/"^^xsd:string) "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.23"^^xsd:string) AnnotationAssertion( "ICD9CM:377.14"^^xsd:string) AnnotationAssertion( "glaucomatous atrophy [cupping] of optic disc"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10337"^^xsd:string) AnnotationAssertion(rdfs:label "glaucomatous atrophy of optic disc"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic meningitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G03.1"^^xsd:string) AnnotationAssertion( "ICD9CM:322.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10341"^^xsd:string) AnnotationAssertion(rdfs:label "chronic meningitis"^^xsd:string) SubClassOf( ) # Class: (blepharophimosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Blepharophimosis"^^xsd:string) "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5932"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.52"^^xsd:string) AnnotationAssertion( "ICD9CM:374.46"^^xsd:string) AnnotationAssertion( "MESH:D016569"^^xsd:string) AnnotationAssertion( "blepharophimoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10348"^^xsd:string) AnnotationAssertion(rdfs:label "blepharophimosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (solitary cyst of breast) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14223874"^^xsd:string) "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N60.0"^^xsd:string) AnnotationAssertion( "ICD10CM:N60.09"^^xsd:string) AnnotationAssertion( "ICD9CM:610.0"^^xsd:string) AnnotationAssertion( "NCI:C3378"^^xsd:string) AnnotationAssertion( "solitary cyst of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10349"^^xsd:string) AnnotationAssertion(rdfs:label "solitary cyst of breast"^^xsd:string) SubClassOf( ) # Class: (aggressive NK-cell leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/"^^xsd:string) "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C94.8"^^xsd:string) AnnotationAssertion( "ICDO:9948/3"^^xsd:string) AnnotationAssertion( "NCI:C8647"^^xsd:string) AnnotationAssertion( "aggressive NK-cell leukaemia"^^xsd:string) AnnotationAssertion( "large granular lymphocyte leukemia, NK-cell type"^^xsd:string) AnnotationAssertion( "natural killer cell leukaemia"^^xsd:string) AnnotationAssertion( "natural killer cell leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1035"^^xsd:string) AnnotationAssertion(rdfs:label "aggressive NK-cell leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast cyst) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Breast_cyst"^^xsd:string) "A breast benign neoplasm that is characterized by a fluid-filled sac. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000848"^^xsd:string) AnnotationAssertion( "MESH:D047688"^^xsd:string) AnnotationAssertion( "NCI:C5315"^^xsd:string) AnnotationAssertion( "breast cysts"^^xsd:string) AnnotationAssertion( "cyst of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10350"^^xsd:string) AnnotationAssertion(rdfs:label "breast cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast fibroadenosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibrosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1"^^xsd:string) "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N60.2"^^xsd:string) AnnotationAssertion( "ICD9CM:610.2"^^xsd:string) AnnotationAssertion( "fibroadenosis of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10352"^^xsd:string) AnnotationAssertion(rdfs:label "breast fibroadenosis"^^xsd:string) SubClassOf( ) # Class: (fibrosclerosis of breast) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast"^^xsd:string) "A non-proliferative fibrocystic change of the breast that contains scar tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000145"^^xsd:string) AnnotationAssertion( "ICD10CM:N60.3"^^xsd:string) AnnotationAssertion( "ICD9CM:610.3"^^xsd:string) AnnotationAssertion( "MONDO:0006118"^^xsd:string) AnnotationAssertion( "NCI:C3660"^^xsd:string) AnnotationAssertion( "breast fibrosis"^^xsd:string) AnnotationAssertion( "fibrosis of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10353"^^xsd:string) AnnotationAssertion(rdfs:label "fibrosclerosis of breast"^^xsd:string) SubClassOf( ) # Class: (breast fibrocystic disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3511705"^^xsd:string) "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003014"^^xsd:string) AnnotationAssertion( "ICD10CM:N60.1"^^xsd:string) AnnotationAssertion( "ICD9CM:610.1"^^xsd:string) AnnotationAssertion( "MESH:D005348"^^xsd:string) AnnotationAssertion( "NCI:C3039"^^xsd:string) AnnotationAssertion( "Breast Cystic Disease"^^xsd:string) AnnotationAssertion( "Breast Cystic Diseases"^^xsd:string) AnnotationAssertion( "Breast Dysplasia"^^xsd:string) AnnotationAssertion( "Breast Fibrocystic Change"^^xsd:string) AnnotationAssertion( "Breast Fibrocystic Changes"^^xsd:string) AnnotationAssertion( "Chronic Cystic Mastitis"^^xsd:string) AnnotationAssertion( "Cystic Disease of Breast"^^xsd:string) AnnotationAssertion( "Diffuse cystic mastopathy"^^xsd:string) AnnotationAssertion( "Fibrocystic Changes of Breast"^^xsd:string) AnnotationAssertion( "Fibrocystic Disease of Breast"^^xsd:string) AnnotationAssertion( "benign breast disease"^^xsd:string) AnnotationAssertion( "fibrocystic mastopathy"^^xsd:string) AnnotationAssertion( "mammary dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10354"^^xsd:string) AnnotationAssertion(rdfs:label "breast fibrocystic disease"^^xsd:string) SubClassOf( ) # Class: (chronic leukemia) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html"^^xsd:string) "A leukemia that develops slowly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3483"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adult chronic leukemia"^^xsd:string) AnnotationAssertion( "DOID:1036"^^xsd:string) AnnotationAssertion(rdfs:label "chronic leukemia"^^xsd:string) SubClassOf( ) # Class: (eosinophilic meningitis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31972289/"^^xsd:string) "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:322.1"^^xsd:string) AnnotationAssertion( "NCI:C128374"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10361"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic meningitis"^^xsd:string) SubClassOf( ) # Class: (epididymis cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/"^^xsd:string) "A male reproductive organ cancer that is located in the epididymis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C63.0"^^xsd:string) AnnotationAssertion( "ICD9CM:187.5"^^xsd:string) AnnotationAssertion( "NCI:C3558"^^xsd:string) AnnotationAssertion( "malignant epididymal tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of epididymis"^^xsd:string) AnnotationAssertion( "malignant tumor of epididymis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10366"^^xsd:string) AnnotationAssertion(rdfs:label "epididymis cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epididymis adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An epididymis cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39957"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the epididymis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10368"^^xsd:string) AnnotationAssertion(rdfs:label "epididymis adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoid leukemia) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=616067"^^xsd:string) "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:10747"^^xsd:string) AnnotationAssertion( "EFO:0004289"^^xsd:string) AnnotationAssertion( "ICD10CM:C91"^^xsd:string) AnnotationAssertion( "ICD9CM:204"^^xsd:string) AnnotationAssertion( "ICDO:9820/3"^^xsd:string) AnnotationAssertion( "MESH:D007945"^^xsd:string) AnnotationAssertion( "NCI:C7539"^^xsd:string) AnnotationAssertion( "lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "lymphoid leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1037"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoid leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (yaws) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Yaws"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs316/en/"^^xsd:string) "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007548"^^xsd:string) AnnotationAssertion( "GARD:7913"^^xsd:string) AnnotationAssertion( "ICD10CM:A66"^^xsd:string) AnnotationAssertion( "ICD9CM:102"^^xsd:string) AnnotationAssertion( "MESH:D015001"^^xsd:string) AnnotationAssertion( "NCI:C41353"^^xsd:string) AnnotationAssertion( "bouba"^^xsd:string) AnnotationAssertion( "frambesia"^^xsd:string) AnnotationAssertion( "frambesia tropica"^^xsd:string) AnnotationAssertion( "frambesia tropicas"^^xsd:string) AnnotationAssertion( "frambesias"^^xsd:string) AnnotationAssertion( "frambosie"^^xsd:string) AnnotationAssertion( "polypapilloma tropicum"^^xsd:string) AnnotationAssertion( "thymosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10371"^^xsd:string) AnnotationAssertion(rdfs:label "yaws"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (strabismic amblyopia) AnnotationAssertion(Annotation( "https://aapos.org/glossary/amblyopia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25051925/"^^xsd:string) "An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.03"^^xsd:string) AnnotationAssertion( "ICD9CM:368.01"^^xsd:string) AnnotationAssertion( "suppression amblyopia"^^xsd:string) AnnotationAssertion( "suppression amblyopias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10375"^^xsd:string) AnnotationAssertion(rdfs:label "strabismic amblyopia"^^xsd:string) SubClassOf( ) # Class: (amblyopia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Amblyopia"^^xsd:string) Annotation( "https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye"^^xsd:string) "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.00"^^xsd:string) AnnotationAssertion( "ICD9CM:368.00"^^xsd:string) AnnotationAssertion( "MESH:D000550"^^xsd:string) AnnotationAssertion( "MONDO:0001020"^^xsd:string) AnnotationAssertion( "NCI:C118764"^^xsd:string) AnnotationAssertion( "Anisometropic Amblyopia"^^xsd:string) AnnotationAssertion( "Developmental Amblyopia"^^xsd:string) AnnotationAssertion( "Developmental Amblyopias"^^xsd:string) AnnotationAssertion( "amblyopias"^^xsd:string) AnnotationAssertion( "anisometropic amblyopias"^^xsd:string) AnnotationAssertion( "lazy eye"^^xsd:string) AnnotationAssertion( "lazy eyes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10376"^^xsd:string) AnnotationAssertion(rdfs:label "amblyopia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (refractive amblyopia) AnnotationAssertion(Annotation( "https://aapos.org/glossary/amblyopia"^^xsd:string) "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.02"^^xsd:string) AnnotationAssertion( "ICD9CM:368.03"^^xsd:string) AnnotationAssertion( "ametropic amblyopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10377"^^xsd:string) AnnotationAssertion(rdfs:label "refractive amblyopia"^^xsd:string) SubClassOf( ) # Class: (deprivation amblyopia) AnnotationAssertion(Annotation( "https://aapos.org/glossary/amblyopia"^^xsd:string) "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.01"^^xsd:string) AnnotationAssertion( "ICD9CM:368.02"^^xsd:string) AnnotationAssertion( "disuse amblyopia"^^xsd:string) AnnotationAssertion( "pattern-deprivation amblyopia"^^xsd:string) AnnotationAssertion( "stimulus deprivation-induced amblyopia"^^xsd:string) AnnotationAssertion( "stimulus deprivation-induced amblyopias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10378"^^xsd:string) AnnotationAssertion(rdfs:label "deprivation amblyopia"^^xsd:string) SubClassOf( ) # Class: (amyotrophic neuralgia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/"^^xsd:string) "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:353.5"^^xsd:string) AnnotationAssertion( "amyotrophic neuralgias"^^xsd:string) AnnotationAssertion( "hereditary neuralgic amyotrophies"^^xsd:string) AnnotationAssertion( "hereditary neuralgic amyotrophy"^^xsd:string) AnnotationAssertion( "hereditary neuralgic amyotrophy (HNA)"^^xsd:string) AnnotationAssertion( "neuralgic amyotrophies"^^xsd:string) AnnotationAssertion( "neuralgic amyotrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10383"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic neuralgia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prolymphocytic leukemia) AnnotationAssertion(Annotation( "https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias"^^xsd:string) "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9832/3"^^xsd:string) AnnotationAssertion( "MESH:D015463"^^xsd:string) AnnotationAssertion( "NCI:C3181"^^xsd:string) AnnotationAssertion( "PLL"^^xsd:string) AnnotationAssertion( "Prolymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "prolymphocytic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1039"^^xsd:string) AnnotationAssertion(rdfs:label "prolymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secondary hypertrophic osteoarthropathy) AnnotationAssertion(Annotation( "MESH:D010005"^^xsd:string) "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001174"^^xsd:string) AnnotationAssertion( "ICD9CM:731.2"^^xsd:string) AnnotationAssertion( "MESH:D010005"^^xsd:string) AnnotationAssertion( "RDO:0006249"^^xsd:string) AnnotationAssertion( "Clubbed Finger"^^xsd:string) AnnotationAssertion( "Clubbed Fingers"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:203357004"^^xsd:string) "HPOA - hypertrophic pulmonary osteoarthropathy"^^xsd:string) AnnotationAssertion( "Marie Bamberger Disease"^^xsd:string) AnnotationAssertion( "Secondary Hypertrophic Osteoarthropathies"^^xsd:string) AnnotationAssertion( "hypertrophic pulmonary osteoarthropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10393"^^xsd:string) AnnotationAssertion(rdfs:label "secondary hypertrophic osteoarthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pneumonic plague) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pneumonic_plague"^^xsd:string) "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A20.2"^^xsd:string) AnnotationAssertion( "ICD9CM:020.3"^^xsd:string) AnnotationAssertion( "ICD9CM:020.4"^^xsd:string) AnnotationAssertion( "ICD9CM:020.5"^^xsd:string) AnnotationAssertion( "pneumonic plagues"^^xsd:string) AnnotationAssertion( "primary pneumonic plague"^^xsd:string) AnnotationAssertion( "secondary pneumonic plague"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10398"^^xsd:string) AnnotationAssertion(rdfs:label "pneumonic plague"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seminal vesicle chronic gonorrhea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.34"^^xsd:string) AnnotationAssertion( "RDO:9004910"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:098.34"^^xsd:string) "Gonococcal seminal vesiculitis, chronic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10399"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle chronic gonorrhea"^^xsd:string) SubClassOf( ) # Class: (bacterial infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pathogenic_bacteria"^^xsd:string) "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000771"^^xsd:string) AnnotationAssertion( "ICD10CM:A49.9"^^xsd:string) AnnotationAssertion( "MESH:D001424"^^xsd:string) AnnotationAssertion( "NCI:C2890"^^xsd:string) AnnotationAssertion( "bacterial infection"^^xsd:string) AnnotationAssertion( "bacterial infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:104"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial infectious disease"^^xsd:string) SubClassOf( ) # Class: (chronic lymphocytic leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=346545"^^xsd:string) "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000095"^^xsd:string) AnnotationAssertion( "EFO:0000169"^^xsd:string) AnnotationAssertion( "GARD:6104"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.10"^^xsd:string) AnnotationAssertion( "ICD9CM:204.1"^^xsd:string) AnnotationAssertion( "NCI:C3163"^^xsd:string) AnnotationAssertion( "ORDO:67038"^^xsd:string) AnnotationAssertion( "B-cell chronic lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "CLL"^^xsd:string) AnnotationAssertion( "chronic lymphatic leukaemia"^^xsd:string) AnnotationAssertion( "chronic lymphatic leukemia"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "chronic lymphoid leukemia"^^xsd:string) AnnotationAssertion( "lymphoplasmacytic leukaemia"^^xsd:string) AnnotationAssertion( "lymphoplasmacytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "B-cell chronic lymphoid leukemia"^^xsd:string) AnnotationAssertion( "DOID:1040"^^xsd:string) AnnotationAssertion(rdfs:label "chronic lymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gonococcal seminal vesiculitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "gonorrhea of seminal vesicle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10400"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal seminal vesiculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute pericementitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:523.33"^^xsd:string) AnnotationAssertion( "NCI:C34354"^^xsd:string) AnnotationAssertion( "acute periodontitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10423"^^xsd:string) AnnotationAssertion(rdfs:label "acute pericementitis"^^xsd:string) SubClassOf( ) # Class: (Klippel-Feil syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/klippel_feil_syndrome"^^xsd:string) "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536887"^^xsd:string) AnnotationAssertion( "MESH:C536888"^^xsd:string) AnnotationAssertion( "GARD:10280"^^xsd:string) AnnotationAssertion( "ICD10CM:Q76.1"^^xsd:string) AnnotationAssertion( "ICD9CM:756.16"^^xsd:string) AnnotationAssertion( "MESH:D007714"^^xsd:string) AnnotationAssertion( "MIM:PS118100"^^xsd:string) AnnotationAssertion( "NCI:C98967"^^xsd:string) AnnotationAssertion( "ORDO:2345"^^xsd:string) AnnotationAssertion( "Cervical vertebral fusion, autosomal recessive"^^xsd:string) AnnotationAssertion( "Dystrophia Brevicollis Congenita"^^xsd:string) AnnotationAssertion( "KFS"^^xsd:string) AnnotationAssertion( "Kfs, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Klippel-Feil and Turner syndrome"^^xsd:string) AnnotationAssertion( "Klippel-Feil deformity, deafness and facial asymmetry"^^xsd:string) AnnotationAssertion( "Klippel-Feil sequence"^^xsd:string) AnnotationAssertion( "autosomal dominant Klippel-Feil syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive Klippel-Feil syndrome"^^xsd:string) AnnotationAssertion( "cervical fusion syndrome"^^xsd:string) AnnotationAssertion( "cervical vertebral fusion, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital dystrophia brevicollis"^^xsd:string) AnnotationAssertion( "congenital synostosis of cervical vertebrae"^^xsd:string) AnnotationAssertion( "vertebral cervical fusion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10426"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Feil syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (stable condition keratoconus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.61"^^xsd:string) AnnotationAssertion( "ICD9CM:371.61"^^xsd:string) AnnotationAssertion( "RDO:9004354"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10428"^^xsd:string) AnnotationAssertion(rdfs:label "stable condition keratoconus"^^xsd:string) SubClassOf( ) # Class: (purulent acute otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false"^^xsd:string) "A suppurative otitis media with sudden onset and a short course. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:382.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10435"^^xsd:string) AnnotationAssertion(rdfs:label "purulent acute otitis media"^^xsd:string) SubClassOf( ) # Class: (Mooren's ulcer) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Mooren%27s_Ulcer"^^xsd:string) "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.05"^^xsd:string) AnnotationAssertion( "ICD9CM:370.07"^^xsd:string) AnnotationAssertion( "Mooren ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10439"^^xsd:string) AnnotationAssertion(rdfs:label "Mooren's ulcer"^^xsd:string) SubClassOf( ) # Class: (mycotic corneal ulcer) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Fungal_Keratitis"^^xsd:string) "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.06"^^xsd:string) AnnotationAssertion( "ICD9CM:370.05"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10440"^^xsd:string) AnnotationAssertion(rdfs:label "mycotic corneal ulcer"^^xsd:string) SubClassOf( ) # Class: (marginal corneal ulcer) AnnotationAssertion(Annotation( "https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate"^^xsd:string) "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.04"^^xsd:string) AnnotationAssertion( "ICD9CM:370.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10441"^^xsd:string) AnnotationAssertion(rdfs:label "marginal corneal ulcer"^^xsd:string) SubClassOf( ) # Class: (hypopyon ulcer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.03"^^xsd:string) AnnotationAssertion( "ICD9CM:370.04"^^xsd:string) AnnotationAssertion( "RDO:9003091"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10442"^^xsd:string) AnnotationAssertion(rdfs:label "hypopyon ulcer"^^xsd:string) SubClassOf( ) # Class: (hypopyon) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.05"^^xsd:string) AnnotationAssertion( "ICD9CM:364.05"^^xsd:string) AnnotationAssertion( "NCI:C50593"^^xsd:string) AnnotationAssertion( "RDO:9003090"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10443"^^xsd:string) AnnotationAssertion(rdfs:label "hypopyon"^^xsd:string) SubClassOf( ) # Class: (ring corneal ulcer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16693254"^^xsd:string) "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.02"^^xsd:string) AnnotationAssertion( "ICD9CM:370.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10444"^^xsd:string) AnnotationAssertion(rdfs:label "ring corneal ulcer"^^xsd:string) SubClassOf( ) # Class: (perforated corneal ulcer) AnnotationAssertion(Annotation( "https://www.aao.org/eyenet/article/corneal-perforations"^^xsd:string) "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.07"^^xsd:string) AnnotationAssertion( "ICD9CM:370.06"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10445"^^xsd:string) AnnotationAssertion(rdfs:label "perforated corneal ulcer"^^xsd:string) SubClassOf( ) # Class: (tonsillitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tonsillitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis"^^xsd:string) "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J35.01"^^xsd:string) AnnotationAssertion( "ICD9CM:474.00"^^xsd:string) AnnotationAssertion( "MESH:D014069"^^xsd:string) AnnotationAssertion( "NCI:C116006"^^xsd:string) AnnotationAssertion( "Tonsillitides"^^xsd:string) AnnotationAssertion( "chronic tonsillitis"^^xsd:string) AnnotationAssertion( "throat infection - tonsillitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10456"^^xsd:string) AnnotationAssertion(rdfs:label "tonsillitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Legionnaires' disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Legionellosis"^^xsd:string) "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608556"^^xsd:string) AnnotationAssertion( "EFO:0007343"^^xsd:string) AnnotationAssertion( "ICD10CM:A48.1"^^xsd:string) AnnotationAssertion( "ICD9CM:482.84"^^xsd:string) AnnotationAssertion( "MESH:D007877"^^xsd:string) AnnotationAssertion( "MONDO:0005824"^^xsd:string) AnnotationAssertion( "NCI:C128339"^^xsd:string) AnnotationAssertion( "Legionella pneumophila Infection"^^xsd:string) AnnotationAssertion( "Legionella pneumophila Infections"^^xsd:string) AnnotationAssertion( "Legionnaire Disease"^^xsd:string) AnnotationAssertion( "Legionnaire's Disease"^^xsd:string) AnnotationAssertion( "infection by Legionella pneumophilia"^^xsd:string) AnnotationAssertion( "legionella"^^xsd:string) AnnotationAssertion( "legionella pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Legionnaire disease, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:10457"^^xsd:string) AnnotationAssertion(rdfs:label "Legionnaires' disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (legionellosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Legionellosis"^^xsd:string) Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007342"^^xsd:string) AnnotationAssertion( "MESH:D007876"^^xsd:string) AnnotationAssertion( "NCI:C128334"^^xsd:string) AnnotationAssertion( "legionella infection"^^xsd:string) AnnotationAssertion( "legionelloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10458"^^xsd:string) AnnotationAssertion(rdfs:label "legionellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (common cold) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold"^^xsd:string) "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007214"^^xsd:string) AnnotationAssertion( "ICD9CM:460"^^xsd:string) AnnotationAssertion( "MESH:D003139"^^xsd:string) AnnotationAssertion( "NCI:C34500"^^xsd:string) AnnotationAssertion( "NCI:C78599"^^xsd:string) AnnotationAssertion( "Acute viral rhinopharyngitis"^^xsd:string) AnnotationAssertion( "Catarrh"^^xsd:string) AnnotationAssertion( "Catarrhs"^^xsd:string) AnnotationAssertion( "Common Colds"^^xsd:string) AnnotationAssertion( "acute coryza"^^xsd:string) AnnotationAssertion( "acute nasopharyngitis"^^xsd:string) AnnotationAssertion( "acute rhinitis"^^xsd:string) AnnotationAssertion( "rhino-sinusitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Rhinovirus Infection"^^xsd:string) AnnotationAssertion( "DOID:10459"^^xsd:string) AnnotationAssertion(rdfs:label "common cold"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nasopharyngitis) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/nasopharyngitis"^^xsd:string) Annotation( "http://www.merriam-webster.com/medical/nasopharyngitis"^^xsd:string) "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J00"^^xsd:string) AnnotationAssertion( "ICD10CM:J31.1"^^xsd:string) AnnotationAssertion( "ICD9CM:472.2"^^xsd:string) AnnotationAssertion( "MESH:D009304"^^xsd:string) AnnotationAssertion( "NCI:C34837"^^xsd:string) AnnotationAssertion( "chronic nasopharyngitis"^^xsd:string) AnnotationAssertion( "nasopharyngitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10460"^^xsd:string) AnnotationAssertion(rdfs:label "nasopharyngitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dentin caries) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K02"^^xsd:string) AnnotationAssertion( "ICD9CM:521.02"^^xsd:string) AnnotationAssertion( "compound dental caries"^^xsd:string) AnnotationAssertion( "dental caries extending into dentine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10461"^^xsd:string) AnnotationAssertion(rdfs:label "dentin caries"^^xsd:string) SubClassOf( ) # Class: (patellar tendinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M76.5"^^xsd:string) AnnotationAssertion( "ICD10CM:M76.50"^^xsd:string) AnnotationAssertion( "ICD9CM:726.64"^^xsd:string) AnnotationAssertion( "RDO:9003129"^^xsd:string) AnnotationAssertion( "patellar tendonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10471"^^xsd:string) AnnotationAssertion(rdfs:label "patellar tendinitis"^^xsd:string) SubClassOf( ) # Class: (diaphragmatic eventration) AnnotationAssertion(Annotation( "MESH:D003965"^^xsd:string) "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG."^^xsd:string) AnnotationAssertion( "EFO:1000898"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.1"^^xsd:string) AnnotationAssertion( "MESH:D003965"^^xsd:string) AnnotationAssertion( "NCI:C98912"^^xsd:string) AnnotationAssertion( "Diaphragm Eventration"^^xsd:string) AnnotationAssertion( "Eventration of Diaphragm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10480"^^xsd:string) AnnotationAssertion(rdfs:label "diaphragmatic eventration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diaphragm disease) AnnotationAssertion(Annotation( "http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm"^^xsd:string) "A muscular disease that is located_in the diaphragm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007233"^^xsd:string) AnnotationAssertion( "ICD10CM:J98.6"^^xsd:string) AnnotationAssertion( "ICD9CM:519.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10481"^^xsd:string) AnnotationAssertion(rdfs:label "diaphragm disease"^^xsd:string) SubClassOf( ) # Class: (esophageal atresia) AnnotationAssertion(Annotation( "MESH:D004933"^^xsd:string) "Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA."^^xsd:string) AnnotationAssertion( "GARD:6381"^^xsd:string) AnnotationAssertion( "ICD10CM:Q39.0"^^xsd:string) AnnotationAssertion( "MESH:D004933"^^xsd:string) AnnotationAssertion( "NCI:C87072"^^xsd:string) AnnotationAssertion( "Esophageal Atresias"^^xsd:string) AnnotationAssertion( "congenital atresia of esophagus"^^xsd:string) AnnotationAssertion( "congenital imperforate esophagus"^^xsd:string) AnnotationAssertion( "imperforate esophagus"^^xsd:string) AnnotationAssertion( "oesophageal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10485"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestinal atresia) AnnotationAssertion(Annotation( "MESH:D007409"^^xsd:string) "Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MIM:243600"^^xsd:string) AnnotationAssertion( "ICD10CM:Q41.1"^^xsd:string) AnnotationAssertion( "MESH:D007409"^^xsd:string) AnnotationAssertion( "NCI:C84790"^^xsd:string) AnnotationAssertion( "Apple Peel Intestinal Atresia"^^xsd:string) AnnotationAssertion( "Apple Peel Small Bowel Syndrome"^^xsd:string) AnnotationAssertion( "Apple Peel Syndrome"^^xsd:string) AnnotationAssertion( "Apple Peel Syndromes"^^xsd:string) AnnotationAssertion( "Apple-Peel Intestinal Atresias"^^xsd:string) AnnotationAssertion( "Congenital Intestinal Atresia"^^xsd:string) AnnotationAssertion( "Congenital Intestinal Atresias"^^xsd:string) AnnotationAssertion( "Familial Apple Peel Jejunal Atresia"^^xsd:string) AnnotationAssertion( "Jejunal Atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10486"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hirschsprung's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hirschsprung%27s_disease"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm"^^xsd:string) Annotation( "http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease"^^xsd:string) "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142623"^^xsd:string) AnnotationAssertion( "MIM:600155"^^xsd:string) AnnotationAssertion( "MIM:600156"^^xsd:string) AnnotationAssertion( "MIM:606874"^^xsd:string) AnnotationAssertion( "MIM:606875"^^xsd:string) AnnotationAssertion( "MIM:608462"^^xsd:string) AnnotationAssertion( "MIM:611644"^^xsd:string) AnnotationAssertion( "MIM:613711"^^xsd:string) AnnotationAssertion( "MIM:613712"^^xsd:string) AnnotationAssertion( "EFO:0004241"^^xsd:string) AnnotationAssertion( "GARD:6660"^^xsd:string) AnnotationAssertion( "ICD10CM:Q43.1"^^xsd:string) AnnotationAssertion( "MESH:D006627"^^xsd:string) AnnotationAssertion( "MIM:PS142623"^^xsd:string) AnnotationAssertion( "MONDO:0018309"^^xsd:string) AnnotationAssertion( "NCI:C34700"^^xsd:string) AnnotationAssertion( "ORDO:388"^^xsd:string) AnnotationAssertion( "HSCR"^^xsd:string) AnnotationAssertion( "HSCR1"^^xsd:string) AnnotationAssertion( "HSCR2"^^xsd:string) AnnotationAssertion( "HSCR3"^^xsd:string) AnnotationAssertion( "HSCR4"^^xsd:string) AnnotationAssertion( "HSCR5"^^xsd:string) AnnotationAssertion( "HSCR6"^^xsd:string) AnnotationAssertion( "HSCR7"^^xsd:string) AnnotationAssertion( "HSCR8"^^xsd:string) AnnotationAssertion( "HSCR9"^^xsd:string) AnnotationAssertion( "Hirschsprung disease"^^xsd:string) AnnotationAssertion( "Hirschsprungs disease"^^xsd:string) AnnotationAssertion( "MGC"^^xsd:string) AnnotationAssertion( "aganglionic megacolon"^^xsd:string) AnnotationAssertion( "colonic aganglionosis"^^xsd:string) AnnotationAssertion( "congenital intestinal aganglionosis"^^xsd:string) AnnotationAssertion( "congenital megacolon"^^xsd:string) AnnotationAssertion( "macrocolon"^^xsd:string) AnnotationAssertion( "pelvirectal achalasia"^^xsd:string) AnnotationAssertion( "rectosigmoid aganglionosis"^^xsd:string) AnnotationAssertion( "rectosigmoid colon aganglionosis"^^xsd:string) AnnotationAssertion( "total colonic aganglionosis"^^xsd:string) AnnotationAssertion( "CSMD3-ASSOCIATED HIRSCHSPRUNG DISEASE"^^xsd:string) AnnotationAssertion( "Hirschsprung disease, dominant"^^xsd:string) AnnotationAssertion( "Hirschsprung disease, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 1"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 2"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 3"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 4"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 5"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 6"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 7"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 8"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease, Susceptibility to, 9"^^xsd:string) AnnotationAssertion( "Hirschsprung disease, protection against"^^xsd:string) AnnotationAssertion( "DOID:10487"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (imperforate anus) AnnotationAssertion(Annotation( "MESH:D001006"^^xsd:string) "A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME."^^xsd:string) AnnotationAssertion( "MIM:207500"^^xsd:string) AnnotationAssertion( "MIM:301800"^^xsd:string) AnnotationAssertion( "GARD:6769"^^xsd:string) AnnotationAssertion( "ICD10CM:Q42.3"^^xsd:string) AnnotationAssertion( "MESH:D001006"^^xsd:string) AnnotationAssertion( "NCI:C84784"^^xsd:string) AnnotationAssertion( "anal atresia"^^xsd:string) AnnotationAssertion( "anal atresias"^^xsd:string) AnnotationAssertion( "congenital atresia of anus"^^xsd:string) AnnotationAssertion( "congenital or infantile occlusion of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10488"^^xsd:string) AnnotationAssertion(rdfs:label "imperforate anus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adrenal cortical hypofunction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9008329"^^xsd:string) AnnotationAssertion( "EFO:0009491"^^xsd:string) AnnotationAssertion( "ICD9CM:255.4"^^xsd:string) AnnotationAssertion( "MIM:184757"^^xsd:string) AnnotationAssertion( "NCI:C26691"^^xsd:string) AnnotationAssertion( "RDO:9000796"^^xsd:string) AnnotationAssertion( "RDO:9004277"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27150"^^xsd:string) "Adrenal Cortical Insufficiency"^^xsd:string) AnnotationAssertion( "Adrenocortical Insufficiency"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:267483004"^^xsd:string) "Corticoadrenal insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10493"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortical hypofunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbital granuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.11"^^xsd:string) AnnotationAssertion( "ICD9CM:376.11"^^xsd:string) AnnotationAssertion( "NCI:C3653"^^xsd:string) AnnotationAssertion( "RDO:9003003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10499"^^xsd:string) AnnotationAssertion(rdfs:label "orbital granuloma"^^xsd:string) SubClassOf( ) # Class: (Dressler's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dressler%27s_syndrome"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307"^^xsd:string) "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I24.1"^^xsd:string) AnnotationAssertion( "ICD9CM:411.0"^^xsd:string) AnnotationAssertion( "MESH:C538618"^^xsd:string) AnnotationAssertion( "Donath-Landsteiner hemolytic anemia"^^xsd:string) AnnotationAssertion( "Donath-Landsteiner syndrome"^^xsd:string) AnnotationAssertion( "Dressler syndrome"^^xsd:string) AnnotationAssertion( "Harley syndrome"^^xsd:string) AnnotationAssertion( "immune hemolytic anemia, paroxysmal cold"^^xsd:string) AnnotationAssertion( "postmyocardial infarction syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10507"^^xsd:string) AnnotationAssertion(rdfs:label "Dressler's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant otitis externa) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec19/ch219/ch219c.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm"^^xsd:string) "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H60.2"^^xsd:string) AnnotationAssertion( "ICD9CM:380.14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10516"^^xsd:string) AnnotationAssertion(rdfs:label "malignant otitis externa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beach ear) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otitis_externa"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm"^^xsd:string) "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:380.12"^^xsd:string) AnnotationAssertion( "acute bacterial inflammation of external ear"^^xsd:string) AnnotationAssertion( "acute otitis externa, diffuse"^^xsd:string) AnnotationAssertion( "acute swimmer's ear"^^xsd:string) AnnotationAssertion( "acute swimmers' ear"^^xsd:string) AnnotationAssertion( "tank ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10518"^^xsd:string) AnnotationAssertion(rdfs:label "beach ear"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic fungal otitis externa) AnnotationAssertion(Annotation( "http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf"^^xsd:string) "A otomycosis which is persistent and long-lasting or recurrent. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:380.15"^^xsd:string) AnnotationAssertion( "MONDO:0001052"^^xsd:string) AnnotationAssertion( "chronic mycotic otitis externa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10519"^^xsd:string) AnnotationAssertion(rdfs:label "chronic fungal otitis externa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute infection of pinna) AnnotationAssertion(Annotation( "http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false"^^xsd:string) "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:380.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10520"^^xsd:string) AnnotationAssertion(rdfs:label "acute infection of pinna"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (double pterygium) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/"^^xsd:string) "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:372.44"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10525"^^xsd:string) AnnotationAssertion(rdfs:label "double pterygium"^^xsd:string) SubClassOf( ) # Class: (conjunctival pterygium) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string) "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "web eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10526"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival pterygium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (viral pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string) "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007541"^^xsd:string) AnnotationAssertion( "ICD10CM:J12.9"^^xsd:string) AnnotationAssertion( "ICD9CM:480"^^xsd:string) AnnotationAssertion( "MESH:D011024"^^xsd:string) AnnotationAssertion( "viral pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10533"^^xsd:string) AnnotationAssertion(rdfs:label "viral pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stomach cancer) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Stomach"^^xsd:string) "A gastrointestinal system cancer that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613659"^^xsd:string) AnnotationAssertion( "GARD:7704"^^xsd:string) AnnotationAssertion( "ICD10CM:C16"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.5"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.6"^^xsd:string) AnnotationAssertion( "ICD9CM:151"^^xsd:string) AnnotationAssertion( "ICD9CM:151.4"^^xsd:string) AnnotationAssertion( "ICD9CM:151.5"^^xsd:string) AnnotationAssertion( "ICD9CM:151.6"^^xsd:string) AnnotationAssertion( "NCI:C3387"^^xsd:string) AnnotationAssertion( "NCI:C9331"^^xsd:string) AnnotationAssertion( "cancer of stomach"^^xsd:string) AnnotationAssertion( "cancer of the stomach"^^xsd:string) AnnotationAssertion( "gastric cancer"^^xsd:string) AnnotationAssertion( "gastric cancers"^^xsd:string) AnnotationAssertion( "stomach cancers"^^xsd:string) AnnotationAssertion( "familial diffuse gastric cancer and cleft lip with or without cleft palate"^^xsd:string) AnnotationAssertion( "intestinal gastric cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10534"^^xsd:string) AnnotationAssertion(rdfs:label "stomach cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant gastric granular cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5484"^^xsd:string) AnnotationAssertion( "malignant gastric granular cell tumour"^^xsd:string) AnnotationAssertion( "malignant granular cell tumor of stomach"^^xsd:string) AnnotationAssertion( "malignant granular cell tumour of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10536"^^xsd:string) AnnotationAssertion(rdfs:label "malignant gastric granular cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric fundus cancer) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html"^^xsd:string) "A stomach cancer that is located_in the gastric fundus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.1"^^xsd:string) AnnotationAssertion( "ICD9CM:151.3"^^xsd:string) AnnotationAssertion( "Ca fundus - stomach"^^xsd:string) AnnotationAssertion( "malignant neoplasm of fundus of stomach"^^xsd:string) AnnotationAssertion( "malignant tumor of fundus of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10538"^^xsd:string) AnnotationAssertion(rdfs:label "gastric fundus cancer"^^xsd:string) SubClassOf( ) # Class: (gastric lymphoma) AnnotationAssertion( "GARD:6485"^^xsd:string) AnnotationAssertion( "MESH:C535648"^^xsd:string) AnnotationAssertion( "NCI:C4636"^^xsd:string) AnnotationAssertion( "familial primary gastric lymphoma"^^xsd:string) AnnotationAssertion( "lymphoma of the stomach"^^xsd:string) AnnotationAssertion( "primary gastric lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10540"^^xsd:string) AnnotationAssertion(rdfs:label "gastric lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microinvasive gastric cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27131"^^xsd:string) AnnotationAssertion( "RDO:9002468"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27131"^^xsd:string) "Surface gastric cancer"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:276809004"^^xsd:string) "early gastric cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10541"^^xsd:string) AnnotationAssertion(rdfs:label "microinvasive gastric cancer"^^xsd:string) SubClassOf( ) # Class: (pylorus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.4"^^xsd:string) AnnotationAssertion( "ICD9CM:151.1"^^xsd:string) AnnotationAssertion( "NCI:C188051"^^xsd:string) AnnotationAssertion( "Ca pylorus - stomach"^^xsd:string) AnnotationAssertion( "malignant neoplasm of pylorus of stomach"^^xsd:string) AnnotationAssertion( "malignant tumor of pylorus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of prepylorus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10544"^^xsd:string) AnnotationAssertion(rdfs:label "pylorus cancer"^^xsd:string) SubClassOf( ) # Class: (pyloric antrum cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.3"^^xsd:string) AnnotationAssertion( "ICD9CM:151.2"^^xsd:string) AnnotationAssertion( "malignant neoplasm of antrum of stomach"^^xsd:string) AnnotationAssertion( "malignant tumor of pyloric antrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10547"^^xsd:string) AnnotationAssertion(rdfs:label "pyloric antrum cancer"^^xsd:string) SubClassOf( ) # Class: (cardia cancer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33758614"^^xsd:string) "A cancer located_in the gastric cardia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C16.0"^^xsd:string) AnnotationAssertion( "ICD9CM:151.0"^^xsd:string) AnnotationAssertion( "Ca cardia - stomach"^^xsd:string) AnnotationAssertion( "malignant neoplasm of cardia of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10548"^^xsd:string) AnnotationAssertion(rdfs:label "cardia cancer"^^xsd:string) SubClassOf( ) # Class: (acute eustachian salpingitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string) "A otosalpingitis with a sudden onset and a short course. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H68.01"^^xsd:string) AnnotationAssertion( "ICD9CM:381.51"^^xsd:string) AnnotationAssertion( "RDO:9003843"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:194268005"^^xsd:string) "acute eustachian tube salpingitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10550"^^xsd:string) AnnotationAssertion(rdfs:label "acute eustachian salpingitis"^^xsd:string) SubClassOf( ) # Class: (meningoencephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Encephalitis"^^xsd:string) "A central nervous system disease that involves encephalitis which occurs along with meningitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007364"^^xsd:string) AnnotationAssertion( "ICD10CM:A69.22"^^xsd:string) AnnotationAssertion( "MESH:D008590"^^xsd:string) AnnotationAssertion( "NCI:C34813"^^xsd:string) AnnotationAssertion( "Cerebromeningitides"^^xsd:string) AnnotationAssertion( "Cerebromeningitis"^^xsd:string) AnnotationAssertion( "Encephalomeningitides"^^xsd:string) AnnotationAssertion( "Encephalomeningitis"^^xsd:string) AnnotationAssertion( "Meningoencephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10554"^^xsd:string) AnnotationAssertion(rdfs:label "meningoencephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (supine hypotensive syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22537582"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8164943"^^xsd:string) "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:669.20"^^xsd:string) AnnotationAssertion( "RDO:9002794"^^xsd:string) AnnotationAssertion( "antepartum maternal hypotension syndrome"^^xsd:string) AnnotationAssertion( "postpartum maternal hypotension syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10556"^^xsd:string) AnnotationAssertion(rdfs:label "supine hypotensive syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oculocerebrorenal syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/lowe-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/309000"^^xsd:string) "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309000"^^xsd:string) AnnotationAssertion( "GARD:3295"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.03"^^xsd:string) AnnotationAssertion( "MESH:D009800"^^xsd:string) AnnotationAssertion( "NCI:C84940"^^xsd:string) AnnotationAssertion( "ORDO:534"^^xsd:string) AnnotationAssertion( "Lowe Bickel syndrome"^^xsd:string) AnnotationAssertion( "Lowe Disease"^^xsd:string) AnnotationAssertion( "Lowe Oculocerebrorenal Syndrome"^^xsd:string) AnnotationAssertion( "Lowe Syndrome"^^xsd:string) AnnotationAssertion( "Lowe Terrey MacLachlan Syndrome"^^xsd:string) AnnotationAssertion( "OCRL"^^xsd:string) AnnotationAssertion( "OCRL1"^^xsd:string) AnnotationAssertion( "Oculocerebrorenal Dystrophy"^^xsd:string) AnnotationAssertion( "cerebro oculo renal syndrome"^^xsd:string) AnnotationAssertion( "cerebrooculorenal syndrome"^^xsd:string) AnnotationAssertion( "oculocerebrorenal syndrome of Lowe"^^xsd:string) AnnotationAssertion( "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency"^^xsd:string) AnnotationAssertion( "renal oculocerebrodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1056"^^xsd:string) AnnotationAssertion(rdfs:label "oculocerebrorenal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (late yaws) AnnotationAssertion(Annotation( "https://www.who.int/neglected_diseases/diseases/yaws/en/"^^xsd:string) "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A66.1"^^xsd:string) AnnotationAssertion( "ICD10CM:A66.4"^^xsd:string) AnnotationAssertion( "ICD9CM:102.1"^^xsd:string) AnnotationAssertion( "ICD9CM:102.4"^^xsd:string) AnnotationAssertion( "NCI:C41354"^^xsd:string) AnnotationAssertion( "gummata and ulcers due to yaws"^^xsd:string) AnnotationAssertion( "gummata of yaws"^^xsd:string) AnnotationAssertion( "gummatous frambeside"^^xsd:string) AnnotationAssertion( "multiple papillomata due to yaws and wet crab yaws"^^xsd:string) AnnotationAssertion( "nodular late yaws"^^xsd:string) AnnotationAssertion( "ulcers of yaws"^^xsd:string) AnnotationAssertion( "yaws gummata and ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10567"^^xsd:string) AnnotationAssertion(rdfs:label "late yaws"^^xsd:string) SubClassOf( ) # Class: (early yaws) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs316/en/"^^xsd:string) "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A66.0"^^xsd:string) AnnotationAssertion( "ICD10CM:A66.6"^^xsd:string) AnnotationAssertion( "ICD9CM:102.0"^^xsd:string) AnnotationAssertion( "ICD9CM:102.6"^^xsd:string) AnnotationAssertion( "NCI:C41352"^^xsd:string) AnnotationAssertion( "bone and joint lesions due to yaws"^^xsd:string) AnnotationAssertion( "bone and joint yaws lesion"^^xsd:string) AnnotationAssertion( "chancre of yaws"^^xsd:string) AnnotationAssertion( "initial frambesial ulcer"^^xsd:string) AnnotationAssertion( "initial lesions of yaws"^^xsd:string) AnnotationAssertion( "initial or primary frambesia"^^xsd:string) AnnotationAssertion( "primary frambesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10568"^^xsd:string) AnnotationAssertion(rdfs:label "early yaws"^^xsd:string) SubClassOf( ) # Class: (osteomalacia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteomalacia"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osteomalacia/DS00935"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/osteomalacia"^^xsd:string) "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002027"^^xsd:string) AnnotationAssertion( "GARD:7285"^^xsd:string) AnnotationAssertion( "ICD9CM:268.2"^^xsd:string) AnnotationAssertion( "MESH:D010018"^^xsd:string) AnnotationAssertion( "NCI:C26838"^^xsd:string) AnnotationAssertion( "adult rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10573"^^xsd:string) AnnotationAssertion(rdfs:label "osteomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (calcium metabolism disease) AnnotationAssertion(Annotation( "MESH:D002128"^^xsd:string) "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization."^^xsd:string) AnnotationAssertion( "RDO:0001607"^^xsd:string) AnnotationAssertion( "EFO:0005769"^^xsd:string) AnnotationAssertion( "ICD9CM:275.4"^^xsd:string) AnnotationAssertion( "MESH:D002128"^^xsd:string) AnnotationAssertion( "calcium metabolism disorder"^^xsd:string) AnnotationAssertion( "calcium metabolism disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10575"^^xsd:string) AnnotationAssertion(rdfs:label "calcium metabolism disease"^^xsd:string) SubClassOf( ) # Class: (leukodystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leukodystrophy"^^xsd:string) "A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6895"^^xsd:string) AnnotationAssertion( "ICD9CM:330.0"^^xsd:string) AnnotationAssertion( "MIM:PS221820"^^xsd:string) AnnotationAssertion( "NCI:C61253"^^xsd:string) AnnotationAssertion( "CST3-RELATED LEUKODYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10579"^^xsd:string) AnnotationAssertion(rdfs:label "leukodystrophy"^^xsd:string) SubClassOf( ) # Class: (metachromatic leukodystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy"^^xsd:string) "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250100"^^xsd:string) AnnotationAssertion( "GARD:3230"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.25"^^xsd:string) AnnotationAssertion( "MESH:D007966"^^xsd:string) AnnotationAssertion( "NCI:C61251"^^xsd:string) AnnotationAssertion( "ORDO:512"^^xsd:string) AnnotationAssertion( "ARSA Deficiencies"^^xsd:string) AnnotationAssertion( "ARSA Deficiency"^^xsd:string) AnnotationAssertion( "Arylsulfatase A Deficiencies"^^xsd:string) AnnotationAssertion( "Arylsulfatase A Deficiency"^^xsd:string) AnnotationAssertion( "Arylsulfatase A Deficiency Disease"^^xsd:string) AnnotationAssertion( "Cerebral sclerosis, Diffuse, Metachromatic Form"^^xsd:string) AnnotationAssertion( "Cerebroside Sulfatase Deficiencies"^^xsd:string) AnnotationAssertion( "Cerebroside Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "Cerebroside Sulphatase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Greenfield Disease"^^xsd:string) AnnotationAssertion( "Greenfield's Disease"^^xsd:string) AnnotationAssertion( "Infant Metachromatic Leukodystrophies"^^xsd:string) AnnotationAssertion( "Infant Metachromatic Leukodystrophy"^^xsd:string) AnnotationAssertion( "Infant-Type Metachromatic Leukodystrophies"^^xsd:string) AnnotationAssertion( "Infant-Type Metachromatic Leukodystrophy"^^xsd:string) AnnotationAssertion( "Juvenile Metachromatic Leukodystrophies"^^xsd:string) AnnotationAssertion( "Juvenile-Type Metachromatic Leukodystrophies"^^xsd:string) AnnotationAssertion( "Juvenile-Type Metachromatic Leukodystrophy"^^xsd:string) AnnotationAssertion( "MLD"^^xsd:string) AnnotationAssertion( "Metachromatic Leukodystrophies"^^xsd:string) AnnotationAssertion( "Metachromatic Leukoencephalopathies"^^xsd:string) AnnotationAssertion( "Scholz cerebral sclerosis"^^xsd:string) AnnotationAssertion( "deficiency of cerebroside-sulfatase"^^xsd:string) AnnotationAssertion( "metachromatic leukoencephalopathy"^^xsd:string) AnnotationAssertion( "sulfatide lipidosis"^^xsd:string) AnnotationAssertion( "sulfatide lipoidosis"^^xsd:string) AnnotationAssertion( "CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY, ADULT"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY, JUVENILE"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY, MILD"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY, SEVERE"^^xsd:string) AnnotationAssertion( "metachromatic leukodystrophies, adult"^^xsd:string) AnnotationAssertion( "metachromatic leukodystrophies, adult-type"^^xsd:string) AnnotationAssertion( "metachromatic leukodystrophy, adult-type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE"^^xsd:string) AnnotationAssertion( "Arylsulfatase A Pseudodeficiency"^^xsd:string) AnnotationAssertion( "METACHROMATIC LEUKODYSTROPHY VARIANT"^^xsd:string) AnnotationAssertion( "DOID:10581"^^xsd:string) AnnotationAssertion(rdfs:label "metachromatic leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Refsum disease) AnnotationAssertion(Annotation( "MESH:D012035"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Refsum_disease"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/refsum-disease/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30578512/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/refsum-disease/"^^xsd:string) "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266500"^^xsd:string) AnnotationAssertion( "GARD:5691"^^xsd:string) AnnotationAssertion( "ICD10CM:G60.1"^^xsd:string) AnnotationAssertion( "ICD9CM:356.3"^^xsd:string) AnnotationAssertion( "MESH:D012035"^^xsd:string) AnnotationAssertion( "NCI:C85043"^^xsd:string) AnnotationAssertion( "ORDO:773"^^xsd:string) AnnotationAssertion( "Adult Refsum Disease"^^xsd:string) AnnotationAssertion( "Classic Refsum Disease"^^xsd:string) AnnotationAssertion( "Classic Refsum Diseases"^^xsd:string) AnnotationAssertion( "HMSN 4"^^xsd:string) AnnotationAssertion( "HMSN IV"^^xsd:string) AnnotationAssertion( "HMSN Type IV"^^xsd:string) AnnotationAssertion( "HMSN4"^^xsd:string) AnnotationAssertion( "HSMN IV"^^xsd:string) AnnotationAssertion( "Hemeralopia Heredoataxia Polyneuritiformis"^^xsd:string) AnnotationAssertion( "Hereditary Motor And Sensory Neuropathy Iv"^^xsd:string) AnnotationAssertion( "Hereditary Motor and Sensory Neuropathy Type IV"^^xsd:string) AnnotationAssertion( "Heredopathia Atactica Polyneuritiformis"^^xsd:string) AnnotationAssertion( "PHYH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Phytanic Acid Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "Phytanic Acid Storage Disease"^^xsd:string) AnnotationAssertion( "Refsum Disease, Phytanic Acid Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "Refsum Syndrome"^^xsd:string) AnnotationAssertion( "Refsum Thiebaut Syndrome"^^xsd:string) AnnotationAssertion( "Refsum's Syndrome"^^xsd:string) AnnotationAssertion( "Refsum's disease"^^xsd:string) AnnotationAssertion( "Refsum-Thiebaut syndromes"^^xsd:string) AnnotationAssertion( "Refsums Syndrome"^^xsd:string) AnnotationAssertion( "Refsums disease"^^xsd:string) AnnotationAssertion( "adult Refsum diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10582"^^xsd:string) AnnotationAssertion(rdfs:label "Refsum disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinitis pigmentosa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retinitis_pigmentosa"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa"^^xsd:string) "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268000"^^xsd:string) AnnotationAssertion( "OMIA:001455"^^xsd:string) AnnotationAssertion( "OMIA:001918"^^xsd:string) AnnotationAssertion( "EFO:0020026"^^xsd:string) AnnotationAssertion( "EFO:0020028"^^xsd:string) AnnotationAssertion( "GARD:5694"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.52"^^xsd:string) AnnotationAssertion( "MESH:D012174"^^xsd:string) AnnotationAssertion( "MIM:PS268000"^^xsd:string) AnnotationAssertion( "MONDO:0019200"^^xsd:string) AnnotationAssertion( "NCI:C85045"^^xsd:string) AnnotationAssertion( "ORDO:791"^^xsd:string) AnnotationAssertion( "RP"^^xsd:string) AnnotationAssertion( "pericentral pigmentary retinopathy"^^xsd:string) AnnotationAssertion( "pigmentary retinopathies"^^xsd:string) AnnotationAssertion( "pigmentary retinopathy"^^xsd:string) AnnotationAssertion( "tapetoretinal degeneration"^^xsd:string) AnnotationAssertion( "tapetoretinal degenerations"^^xsd:string) AnnotationAssertion( "autosomal dominant retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "autosomal recessive retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "progressive retinal atrophy, type 3"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa, dominant"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa, dominant/recessive"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa, recessive"^^xsd:string) AnnotationAssertion( "syndromic RP"^^xsd:string) AnnotationAssertion( "syndromic retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10584"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Krabbe disease) AnnotationAssertion(Annotation( "MESH:D007965"^^xsd:string) "An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses."^^xsd:string) AnnotationAssertion( "MIM:245200"^^xsd:string) AnnotationAssertion( "OMIA:000578"^^xsd:string) AnnotationAssertion( "GARD:6844"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.23"^^xsd:string) AnnotationAssertion( "MESH:D007965"^^xsd:string) AnnotationAssertion( "NCI:C133088"^^xsd:string) AnnotationAssertion( "NCI:C61254"^^xsd:string) AnnotationAssertion( "Diffuse Globoid Body Sclerosis"^^xsd:string) AnnotationAssertion( "Early Onset Globoid Cell Leukodystrophy"^^xsd:string) AnnotationAssertion( "GALC Deficiencies"^^xsd:string) AnnotationAssertion( "GALC Deficiency"^^xsd:string) AnnotationAssertion( "GCL"^^xsd:string) AnnotationAssertion( "GLD"^^xsd:string) AnnotationAssertion( "Galactocerebrosidase Deficiency"^^xsd:string) AnnotationAssertion( "Galactosylceramidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Galactosylceramide Lipidosis"^^xsd:string) AnnotationAssertion( "Galactosylceramide beta Galactosidase Deficiency"^^xsd:string) AnnotationAssertion( "Galactosylceramide beta Galactosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Galactosylcerebrosidase Deficiency"^^xsd:string) AnnotationAssertion( "Galactosylsphingosine Lipidosis"^^xsd:string) AnnotationAssertion( "Globoid Cell Leukodystrophies"^^xsd:string) AnnotationAssertion( "Globoid Cell Leukodystrophy"^^xsd:string) AnnotationAssertion( "Globoid Cell Leukoencephalopathies"^^xsd:string) AnnotationAssertion( "Globoid Cell Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "Globoid Leukodystrophies"^^xsd:string) AnnotationAssertion( "Globoid Leukodystrophy"^^xsd:string) AnnotationAssertion( "Infantile Globoid Cell Leukodystrophy"^^xsd:string) AnnotationAssertion( "Krabbe Leukodystrophy"^^xsd:string) AnnotationAssertion( "Krabbe's Disease"^^xsd:string) AnnotationAssertion( "Krabbe's leukodystrophy"^^xsd:string) AnnotationAssertion( "Krabbes disease"^^xsd:string) AnnotationAssertion( "Krabbes leukodystrophy"^^xsd:string) AnnotationAssertion( "beta galactocerebrosidase deficiency"^^xsd:string) AnnotationAssertion( "classic globoid cell leukodystrophy"^^xsd:string) AnnotationAssertion( "galactocerebrosidase deficiencies"^^xsd:string) AnnotationAssertion( "galactosylceramidase deficiency diseases"^^xsd:string) AnnotationAssertion( "galactosylceramide beta-galactosidase deficiencies"^^xsd:string) AnnotationAssertion( "galactosylceramide-beta-galactosidase deficiency diseases"^^xsd:string) AnnotationAssertion( "late onset globoid cell leukodystrophy"^^xsd:string) AnnotationAssertion( "psychosine lipidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10587"^^xsd:string) AnnotationAssertion(rdfs:label "Krabbe disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenoleukodystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenoleukodystrophy"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy"^^xsd:string) "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300100"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.52"^^xsd:string) AnnotationAssertion( "MESH:D000326"^^xsd:string) AnnotationAssertion( "NCI:C61252"^^xsd:string) AnnotationAssertion( "ALD"^^xsd:string) AnnotationAssertion( "ALD (adrenoleukodystrophy)"^^xsd:string) AnnotationAssertion( "Addison disease and cerebral sclerosis"^^xsd:string) AnnotationAssertion( "Bronze Schilder disease"^^xsd:string) AnnotationAssertion( "Encephalitis periaxialis concentrica"^^xsd:string) AnnotationAssertion( "Encephalitis periaxialis, Schilder's"^^xsd:string) AnnotationAssertion( "Leukodystrophies, Melanodermic"^^xsd:string) AnnotationAssertion( "Melanodermic Leukodystrophy"^^xsd:string) AnnotationAssertion( "Schilder Addison Complex"^^xsd:string) AnnotationAssertion( "Siemerling Creutzfeldt disease"^^xsd:string) AnnotationAssertion( "X ALD"^^xsd:string) AnnotationAssertion( "X ALD (X-linked adrenoleukodystrophy)"^^xsd:string) AnnotationAssertion( "X-linked adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "diffuse sclerosis"^^xsd:string) AnnotationAssertion( "sudanophilic cerebral sclerosis"^^xsd:string) AnnotationAssertion( "MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY"^^xsd:string) AnnotationAssertion( "X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AMN"^^xsd:string) AnnotationAssertion( "adrenomyeloneuropathy"^^xsd:string) AnnotationAssertion( "DOID:10588"^^xsd:string) AnnotationAssertion(rdfs:label "adrenoleukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intellectual disability) AnnotationAssertion(Annotation( "http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Intellectual_disability"^^xsd:string) "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003847"^^xsd:string) AnnotationAssertion( "MESH:D008607"^^xsd:string) AnnotationAssertion( "NCI:C84392"^^xsd:string) AnnotationAssertion( "NCI:C97250"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "INTELLECTUAL FUNCTIONING DISABILITY"^^xsd:string) AnnotationAssertion( "Intellectual Development Disorder"^^xsd:string) AnnotationAssertion( "Intellectual Disabilities"^^xsd:string) AnnotationAssertion( "idiocy"^^xsd:string) AnnotationAssertion( "intellectual deficiency"^^xsd:string) AnnotationAssertion( "intellectual development disorders"^^xsd:string) AnnotationAssertion( "mental deficiencies"^^xsd:string) AnnotationAssertion( "mental deficiency"^^xsd:string) AnnotationAssertion( "mental retardation"^^xsd:string) AnnotationAssertion( "CLIP1-RELATED INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY (MODERATE)"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, PROFOUND"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, RECESSIVE"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, SEVERE"^^xsd:string) AnnotationAssertion( "Intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "Intellectual disability, mild"^^xsd:string) AnnotationAssertion( "autosomal recessive non-syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "intellectual deficiency, moderate"^^xsd:string) AnnotationAssertion( "intellectual disability with severe speech impairment"^^xsd:string) AnnotationAssertion( "intellectual disability, dominant"^^xsd:string) AnnotationAssertion( "psychosocial mental retardation"^^xsd:string) AnnotationAssertion( "psychosocial mental retardations"^^xsd:string) AnnotationAssertion( "severe intellectual deficiency"^^xsd:string) AnnotationAssertion( "syndromic intellectual disability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1059"^^xsd:string) AnnotationAssertion(rdfs:label "intellectual disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mild pre-eclampsia) AnnotationAssertion(Annotation( "https://www.britannica.com/science/mild-preeclampsia"^^xsd:string) "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:642.40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10590"^^xsd:string) AnnotationAssertion(rdfs:label "mild pre-eclampsia"^^xsd:string) SubClassOf( ) # Class: (pre-eclampsia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pre-eclampsia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/preeclampsia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string) "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000668"^^xsd:string) AnnotationAssertion( "ICD10CM:O14"^^xsd:string) AnnotationAssertion( "ICD10CM:O14.9"^^xsd:string) AnnotationAssertion( "ICD10CM:O14.90"^^xsd:string) AnnotationAssertion( "MESH:D011225"^^xsd:string) AnnotationAssertion( "MIM:PS189800"^^xsd:string) AnnotationAssertion( "NCI:C34943"^^xsd:string) AnnotationAssertion( "NCI:C85021"^^xsd:string) AnnotationAssertion( "ORDO:275555"^^xsd:string) AnnotationAssertion( "EPH Complex"^^xsd:string) AnnotationAssertion( "EPH Gestosis"^^xsd:string) AnnotationAssertion( "PEE"^^xsd:string) AnnotationAssertion( "Preeclampsia"^^xsd:string) AnnotationAssertion( "edema proteinuria hypertension gestosis"^^xsd:string) AnnotationAssertion( "gestational hypertension"^^xsd:string) AnnotationAssertion( "hypertension induced by pregnancy"^^xsd:string) AnnotationAssertion( "preeclampsia/eclampsia"^^xsd:string) AnnotationAssertion( "pregnancy associated hypertension"^^xsd:string) AnnotationAssertion( "proteinuric hypertension of pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPOXIDE HYDROLASE POLYMORPHISM"^^xsd:string) AnnotationAssertion( "HELLP"^^xsd:string) AnnotationAssertion( "HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT"^^xsd:string) AnnotationAssertion( "Preeclampsia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:10591"^^xsd:string) AnnotationAssertion(rdfs:label "pre-eclampsia"^^xsd:string) SubClassOf( ) # Class: (idiopathic progressive polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:356.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10593"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic progressive polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth disease) AnnotationAssertion(Annotation( "https://www.genome.gov/11009201"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease"^^xsd:string) "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180800"^^xsd:string) AnnotationAssertion( "EFO:0004148"^^xsd:string) AnnotationAssertion( "GARD:6034"^^xsd:string) AnnotationAssertion( "ICD9CM:356.1"^^xsd:string) AnnotationAssertion( "MESH:D002607"^^xsd:string) AnnotationAssertion( "MIM:PS118220"^^xsd:string) AnnotationAssertion( "MONDO:0015626"^^xsd:string) AnnotationAssertion( "NCI:C75467"^^xsd:string) AnnotationAssertion( "CMT - Charcot-Marie-Tooth disease"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth hereditary neuropathy"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth muscular atrophy"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth syndrome"^^xsd:string) AnnotationAssertion( "Charcot Marie disease"^^xsd:string) AnnotationAssertion( "Roussy Levy disease"^^xsd:string) AnnotationAssertion( "Roussy Levy hereditary areflexic dystasia"^^xsd:string) AnnotationAssertion( "Roussy Levy syndrome"^^xsd:string) AnnotationAssertion( "hereditary areflexic dystasia"^^xsd:string) AnnotationAssertion( "hereditary areflexic dystasias"^^xsd:string) AnnotationAssertion( "peroneal muscular atrophies"^^xsd:string) AnnotationAssertion( "peroneal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10595"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleural tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17426219"^^xsd:string) "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007446"^^xsd:string) AnnotationAssertion( "ICD10CM:A15.6"^^xsd:string) AnnotationAssertion( "ICD9CM:010.1"^^xsd:string) AnnotationAssertion( "ICD9CM:012.0"^^xsd:string) AnnotationAssertion( "MESH:D014396"^^xsd:string) AnnotationAssertion( "NCI:C26898"^^xsd:string) AnnotationAssertion( "Pearly disease"^^xsd:string) AnnotationAssertion( "Pleural Tuberculoses"^^xsd:string) AnnotationAssertion( "Tuberculous Pleurisies"^^xsd:string) AnnotationAssertion( "Tuberculous Pleurisy"^^xsd:string) AnnotationAssertion( "tuberculosis of pleura"^^xsd:string) AnnotationAssertion( "tuberculous pleurisy in primary progressive tuberculosis"^^xsd:string) AnnotationAssertion( "tuberculous pleuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:106"^^xsd:string) AnnotationAssertion(rdfs:label "pleural tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hartnup disease) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup"^^xsd:string) "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234500"^^xsd:string) AnnotationAssertion( "GARD:6569"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.02"^^xsd:string) AnnotationAssertion( "MESH:D006250"^^xsd:string) AnnotationAssertion( "NCI:C84748"^^xsd:string) AnnotationAssertion( "ORDO:2116"^^xsd:string) AnnotationAssertion( "HND"^^xsd:string) AnnotationAssertion( "Hartnup disorder"^^xsd:string) AnnotationAssertion( "Neutral Amino Acid Transport Defect"^^xsd:string) AnnotationAssertion( "aminoaciduria, Hartnup type"^^xsd:string) AnnotationAssertion( "deficiency of tryptophan oxygenase"^^xsd:string) AnnotationAssertion( "neutral 1 amino acid transport defect"^^xsd:string) AnnotationAssertion( "neutral amino acid transport disorder"^^xsd:string) AnnotationAssertion( "neutral amino acids transport disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1060"^^xsd:string) AnnotationAssertion(rdfs:label "Hartnup disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic tic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string) "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F95.1"^^xsd:string) AnnotationAssertion( "ICD9CM:307.22"^^xsd:string) AnnotationAssertion( "NCI:C116768"^^xsd:string) AnnotationAssertion( "chronic motor or vocal tic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10600"^^xsd:string) AnnotationAssertion(rdfs:label "chronic tic disorder"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (glucose intolerance) AnnotationAssertion(Annotation( "MESH:D018149"^^xsd:string) "A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION."^^xsd:string) AnnotationAssertion( "ICD10CM:R73.03"^^xsd:string) AnnotationAssertion( "MESH:D018149"^^xsd:string) AnnotationAssertion( "NCI:C34646"^^xsd:string) AnnotationAssertion( "glucose intolerances"^^xsd:string) AnnotationAssertion( "glucose malabsorption"^^xsd:string) AnnotationAssertion( "impaired glucose tolerance"^^xsd:string) AnnotationAssertion( "impaired glucose tolerances"^^xsd:string) AnnotationAssertion( "malabsorption of glucose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10603"^^xsd:string) AnnotationAssertion(rdfs:label "glucose intolerance"^^xsd:string) SubClassOf( ) # Class: (lactose intolerance) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/lactose-intolerance/"^^xsd:string) "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000062"^^xsd:string) AnnotationAssertion( "ICD10CM:E73"^^xsd:string) AnnotationAssertion( "MESH:D007787"^^xsd:string) AnnotationAssertion( "NCI:C3154"^^xsd:string) AnnotationAssertion( "Dairy Product Intolerance"^^xsd:string) AnnotationAssertion( "Hypolactasia"^^xsd:string) AnnotationAssertion( "LM - lactose malabsorption"^^xsd:string) AnnotationAssertion( "Lactose Malabsorption"^^xsd:string) AnnotationAssertion( "alactasia"^^xsd:string) AnnotationAssertion( "milk sugar intolerance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10604"^^xsd:string) AnnotationAssertion(rdfs:label "lactose intolerance"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (short bowel syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/short-bowel-syndrome/"^^xsd:string) "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012778"^^xsd:string) AnnotationAssertion( "MIM:615237"^^xsd:string) AnnotationAssertion( "NCI:C99059"^^xsd:string) AnnotationAssertion( "CONGENITAL SHORT BOWEL SYNDROME, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CSBS"^^xsd:string) AnnotationAssertion( "congenital short bowel syndrome"^^xsd:string) AnnotationAssertion( "congenital short bowel syndrome 1"^^xsd:string) AnnotationAssertion( "short gut syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acquired short bowel syndrome"^^xsd:string) AnnotationAssertion( "DOID:10605"^^xsd:string) AnnotationAssertion(rdfs:label "short bowel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blind loop syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Blind_loop_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20572300"^^xsd:string) "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007175"^^xsd:string) AnnotationAssertion( "ICD10CM:K90.2"^^xsd:string) AnnotationAssertion( "ICD9CM:579.2"^^xsd:string) AnnotationAssertion( "MESH:D001765"^^xsd:string) AnnotationAssertion( "NCI:C34431"^^xsd:string) AnnotationAssertion( "Stagnant Loop Syndrome"^^xsd:string) AnnotationAssertion( "bacterial overgrowth syndrome"^^xsd:string) AnnotationAssertion( "stagnant loop syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10606"^^xsd:string) AnnotationAssertion(rdfs:label "blind loop syndrome"^^xsd:string) SubClassOf( ) # Class: (tropical sprue) AnnotationAssertion(Annotation( "MESH:D013182"^^xsd:string) "A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency."^^xsd:string) AnnotationAssertion( "GARD:7824"^^xsd:string) AnnotationAssertion( "ICD10CM:K90.1"^^xsd:string) AnnotationAssertion( "ICD9CM:579.1"^^xsd:string) AnnotationAssertion( "MESH:D013182"^^xsd:string) AnnotationAssertion( "NCI:C45428"^^xsd:string) AnnotationAssertion( "Idiopathic Tropical Malabsorption Syndrome"^^xsd:string) AnnotationAssertion( "tropical steatorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10607"^^xsd:string) AnnotationAssertion(rdfs:label "tropical sprue"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (celiac disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coeliac_disease"^^xsd:string) Annotation( "http://www.celiac.org/"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/celiac-disease/DS00319"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease"^^xsd:string) "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212750"^^xsd:string) AnnotationAssertion( "MIM:607202"^^xsd:string) AnnotationAssertion( "MIM:609753"^^xsd:string) AnnotationAssertion( "MIM:609754"^^xsd:string) AnnotationAssertion( "MIM:609755"^^xsd:string) AnnotationAssertion( "MIM:611598"^^xsd:string) AnnotationAssertion( "MIM:612005"^^xsd:string) AnnotationAssertion( "MIM:612006"^^xsd:string) AnnotationAssertion( "MIM:612007"^^xsd:string) AnnotationAssertion( "MIM:612008"^^xsd:string) AnnotationAssertion( "MIM:612009"^^xsd:string) AnnotationAssertion( "MIM:612010"^^xsd:string) AnnotationAssertion( "MIM:612011"^^xsd:string) AnnotationAssertion( "EFO:0001060"^^xsd:string) AnnotationAssertion( "GARD:11998"^^xsd:string) AnnotationAssertion( "ICD10CM:K90.0"^^xsd:string) AnnotationAssertion( "ICD9CM:579.0"^^xsd:string) AnnotationAssertion( "MESH:D002446"^^xsd:string) AnnotationAssertion( "MIM:PS212750"^^xsd:string) AnnotationAssertion( "NCI:C26714"^^xsd:string) AnnotationAssertion( "ORDO:555"^^xsd:string) AnnotationAssertion( "GSES"^^xsd:string) AnnotationAssertion( "Gluten Enteropathies"^^xsd:string) AnnotationAssertion( "Gluten Enteropathy"^^xsd:string) AnnotationAssertion( "Gluten-Sensitive Enteropathies"^^xsd:string) AnnotationAssertion( "celiac sprue"^^xsd:string) AnnotationAssertion( "coeliac disease"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy"^^xsd:string) AnnotationAssertion( "idiopathic steatorrhea"^^xsd:string) AnnotationAssertion( "nontropical sprue"^^xsd:string) AnnotationAssertion( "sprue"^^xsd:string) AnnotationAssertion( "AIS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CELIAC1"^^xsd:string) AnnotationAssertion( "CELIAC10"^^xsd:string) AnnotationAssertion( "CELIAC11"^^xsd:string) AnnotationAssertion( "CELIAC12"^^xsd:string) AnnotationAssertion( "CELIAC13"^^xsd:string) AnnotationAssertion( "CELIAC2"^^xsd:string) AnnotationAssertion( "CELIAC3"^^xsd:string) AnnotationAssertion( "CELIAC4"^^xsd:string) AnnotationAssertion( "CELIAC5"^^xsd:string) AnnotationAssertion( "CELIAC6"^^xsd:string) AnnotationAssertion( "CELIAC7"^^xsd:string) AnnotationAssertion( "CELIAC8"^^xsd:string) AnnotationAssertion( "CELIAC9"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 13"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "celiac disease, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "celiac sprue, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 13"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "gluten-sensitive enteropathy, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "DOID:10608"^^xsd:string) AnnotationAssertion(rdfs:label "celiac disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rickets) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rickets"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/rickets/DS00813"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm"^^xsd:string) Annotation( "http://www.umm.edu/ency/article/000344.htm"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Rickets#Types"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26365554"^^xsd:string) "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005583"^^xsd:string) AnnotationAssertion( "GARD:5700"^^xsd:string) AnnotationAssertion( "ICD10CM:E55.0"^^xsd:string) AnnotationAssertion( "MESH:D012279"^^xsd:string) AnnotationAssertion( "NCI:C26878"^^xsd:string) AnnotationAssertion( "ORDO:289157"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:190640006"^^xsd:string) "active rickets"^^xsd:string) AnnotationAssertion( "rachitides"^^xsd:string) AnnotationAssertion( "rachitis"^^xsd:string) AnnotationAssertion( "vitamin D hydroxylation-deficient rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10609"^^xsd:string) AnnotationAssertion(rdfs:label "rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic steatorrhea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K90.3"^^xsd:string) AnnotationAssertion( "ICD9CM:579.4"^^xsd:string) AnnotationAssertion( "RDO:9004840"^^xsd:string) AnnotationAssertion( "pancreatic steatorrhoea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10610"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic steatorrhea"^^xsd:string) SubClassOf( ) # Class: (protein-losing enteropathy) AnnotationAssertion(Annotation( "MESH:D011504"^^xsd:string) "Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE."^^xsd:string) AnnotationAssertion( "MIM:226300"^^xsd:string) AnnotationAssertion( "MESH:D011504"^^xsd:string) AnnotationAssertion( "CD55-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CHAPLE"^^xsd:string) AnnotationAssertion( "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY"^^xsd:string) AnnotationAssertion( "Exudative Enteropathies"^^xsd:string) AnnotationAssertion( "Exudative Enteropathy"^^xsd:string) AnnotationAssertion( "idiopathic hypercatabolic hypoproteinemia"^^xsd:string) AnnotationAssertion( "idiopathic hypercatabolic hypoproteinemias"^^xsd:string) AnnotationAssertion( "protein-losing enteropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10611"^^xsd:string) AnnotationAssertion(rdfs:label "protein-losing enteropathy"^^xsd:string) SubClassOf( ) # Class: (allergic urticaria) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2017/0601/p717.html"^^xsd:string) "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000669"^^xsd:string) AnnotationAssertion( "ICD10CM:L50.0"^^xsd:string) AnnotationAssertion( "ICD9CM:708.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10612"^^xsd:string) AnnotationAssertion(rdfs:label "allergic urticaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute gonococcal cervicitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814"^^xsd:string) "An acute cervicitis that is caused by gonorrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.15"^^xsd:string) AnnotationAssertion( "acute gonorrhea of cervix"^^xsd:string) AnnotationAssertion( "gonococcal cervicitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10615"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal cervicitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute cervicitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23606387"^^xsd:string) "A cervicitis that is characterized by onset within the past 1 - 3 days. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27056"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10616"^^xsd:string) AnnotationAssertion(rdfs:label "acute cervicitis"^^xsd:string) SubClassOf( ) # Class: (lymph node cancer) AnnotationAssertion(Annotation( "http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer"^^xsd:string) "A lymphatic system cancer that is located_in the lymph node. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6932"^^xsd:string) AnnotationAssertion( "NCI:C35497"^^xsd:string) AnnotationAssertion( "lymph node neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10619"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fanconi_syndrome"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm"^^xsd:string) "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227810"^^xsd:string) AnnotationAssertion( "GARD:9118"^^xsd:string) AnnotationAssertion( "MESH:D005198"^^xsd:string) AnnotationAssertion( "MIM:PS134600"^^xsd:string) AnnotationAssertion( "NCI:C3034"^^xsd:string) AnnotationAssertion( "NCI:C4377"^^xsd:string) AnnotationAssertion( "ORDO:3337"^^xsd:string) AnnotationAssertion( "De Toni-Debre-Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "FBS"^^xsd:string) AnnotationAssertion( "FRTS"^^xsd:string) AnnotationAssertion( "Fanconi Bickel Syndrome"^^xsd:string) AnnotationAssertion( "Fanconi Renotubular Syndrome"^^xsd:string) AnnotationAssertion( "Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance"^^xsd:string) AnnotationAssertion( "Fanconi Syndrome without Cystinosis"^^xsd:string) AnnotationAssertion( "Fanconi Type Glycogenosis"^^xsd:string) AnnotationAssertion( "Fanconi-Bickel syndromes"^^xsd:string) AnnotationAssertion( "Fanconi-de-Toni syndrome"^^xsd:string) AnnotationAssertion( "Hepatic Glycogenosis with Amino Aciduria and Glucosuria"^^xsd:string) AnnotationAssertion( "Hepatic Glycogenosis with Fanconi Nephropathy"^^xsd:string) AnnotationAssertion( "Hepatorenal Glycogenosis with Renal Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "Idiopathic De Toni-Debre-Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "Lignac Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "Luder Sheldon Syndrome"^^xsd:string) AnnotationAssertion( "Neonatal De Toni-Debre-Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "Primary Toni-Debre-Fanconi Syndrome"^^xsd:string) AnnotationAssertion( "RFS"^^xsd:string) AnnotationAssertion( "Toni-Debre-Fanconi syndrome"^^xsd:string) AnnotationAssertion( "adult Fanconi anemia"^^xsd:string) AnnotationAssertion( "adult Fanconi syndrome"^^xsd:string) AnnotationAssertion( "congenital Fanconi syndrome"^^xsd:string) AnnotationAssertion( "deToni Fanconi syndrome"^^xsd:string) AnnotationAssertion( "proximal renal tubular dysfunction"^^xsd:string) AnnotationAssertion( "pseudo phlorizin diabetes"^^xsd:string) AnnotationAssertion( "renal Fanconi syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "glycogen storage disease XI"^^xsd:string) AnnotationAssertion( "DOID:1062"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary optic atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.21"^^xsd:string) AnnotationAssertion( "ICD9CM:377.11"^^xsd:string) AnnotationAssertion( "RDO:9003215"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10627"^^xsd:string) AnnotationAssertion(rdfs:label "primary optic atrophy"^^xsd:string) SubClassOf( ) # Class: (microphthalmia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Microphthalmia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/microphthalmia"^^xsd:string) "An eye disease where one or both eyeballs are abnormally small. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005569"^^xsd:string) AnnotationAssertion( "GARD:12085"^^xsd:string) AnnotationAssertion( "ICD10CM:Q11.2"^^xsd:string) AnnotationAssertion( "ICD9CM:743.1"^^xsd:string) AnnotationAssertion( "MESH:D008850"^^xsd:string) AnnotationAssertion( "MIM:PS251600"^^xsd:string) AnnotationAssertion( "NCI:C98989"^^xsd:string) AnnotationAssertion( "anophthalmia/microphthalmia"^^xsd:string) AnnotationAssertion( "microphthalmos"^^xsd:string) AnnotationAssertion( "BILATERAL MICROPHTHALMOS"^^xsd:string) AnnotationAssertion( "COMPLEX MICROPHTHALMIA"^^xsd:string) AnnotationAssertion( "UNILATERAL MICROPHTHALMOS"^^xsd:string) AnnotationAssertion( "simple microphthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10629"^^xsd:string) AnnotationAssertion(rdfs:label "microphthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (interstitial nephritis) AnnotationAssertion(Annotation( "MESH:D009395"^^xsd:string) "Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction."^^xsd:string) AnnotationAssertion( "ICD10CM:N12"^^xsd:string) AnnotationAssertion( "MESH:D009395"^^xsd:string) AnnotationAssertion( "NCI:C26834"^^xsd:string) AnnotationAssertion( "interstitial nephritides"^^xsd:string) AnnotationAssertion( "renal tubulo-interstitial disease"^^xsd:string) AnnotationAssertion( "tubulointerstitial nephritides"^^xsd:string) AnnotationAssertion( "tubulointerstitial nephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1063"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial nephritis"^^xsd:string) SubClassOf( ) # Class: (partial optic atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:377.15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10631"^^xsd:string) AnnotationAssertion(rdfs:label "partial optic atrophy"^^xsd:string) SubClassOf( ) # Class: (Wolfram syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Wolfram_syndrome"^^xsd:string) "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7898"^^xsd:string) AnnotationAssertion( "MESH:D014929"^^xsd:string) AnnotationAssertion( "NCI:C35133"^^xsd:string) AnnotationAssertion( "ORDO:3463"^^xsd:string) AnnotationAssertion( "DIDMOAD"^^xsd:string) AnnotationAssertion( "DIDMOAD syndrome"^^xsd:string) AnnotationAssertion( "DIDMOADUD"^^xsd:string) AnnotationAssertion( "WFS"^^xsd:string) AnnotationAssertion( "diabetes insipidus and mellitus with optic atrophy and deafness"^^xsd:string) AnnotationAssertion( "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10632"^^xsd:string) AnnotationAssertion(rdfs:label "Wolfram syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cystinosis) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/cystinosis"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Cystinosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12110740"^^xsd:string) "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219800"^^xsd:string) AnnotationAssertion( "GARD:6236"^^xsd:string) AnnotationAssertion( "MESH:D003554"^^xsd:string) AnnotationAssertion( "NCI:C129932"^^xsd:string) AnnotationAssertion( "NCI:C2976"^^xsd:string) AnnotationAssertion( "ORDO:213"^^xsd:string) AnnotationAssertion( "CTNS"^^xsd:string) AnnotationAssertion( "Cystine Diathesis"^^xsd:string) AnnotationAssertion( "Cystine Disease"^^xsd:string) AnnotationAssertion( "Cystine Storage Disease"^^xsd:string) AnnotationAssertion( "Cystine Storage Diseases"^^xsd:string) AnnotationAssertion( "Cystinoses"^^xsd:string) AnnotationAssertion( "Defect of Cystinosin"^^xsd:string) AnnotationAssertion( "cystine diatheses"^^xsd:string) AnnotationAssertion( "cystine diseases"^^xsd:string) AnnotationAssertion( "defect of lysosomal cystine transport protein"^^xsd:string) AnnotationAssertion( "nephropathic cystinoses"^^xsd:string) AnnotationAssertion( "nephropathic cystinosis"^^xsd:string) AnnotationAssertion( "CYSTINOSIS, ATYPICAL NEPHROPATHIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1064"^^xsd:string) AnnotationAssertion(rdfs:label "cystinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizotypal personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schizotypal_personality_disorder"^^xsd:string) "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F21"^^xsd:string) AnnotationAssertion( "ICD9CM:301.22"^^xsd:string) AnnotationAssertion( "MESH:D012569"^^xsd:string) AnnotationAssertion( "NCI:C92632"^^xsd:string) AnnotationAssertion( "Borderline Schizophrenia"^^xsd:string) AnnotationAssertion( "Incipient Schizophrenia"^^xsd:string) AnnotationAssertion( "Incipient Schizophrenias"^^xsd:string) AnnotationAssertion( "Latent Schizophrenia"^^xsd:string) AnnotationAssertion( "Latent Schizophrenias"^^xsd:string) AnnotationAssertion( "Pseudoneurotic Schizophrenia"^^xsd:string) AnnotationAssertion( "Pseudoneurotic Schizophrenias"^^xsd:string) AnnotationAssertion( "Pseudopsychopathic Schizophrenia"^^xsd:string) AnnotationAssertion( "Pseudopsychopathic Schizophrenias"^^xsd:string) AnnotationAssertion( "borderline schizophrenias"^^xsd:string) AnnotationAssertion( "schizotypal personality disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10646"^^xsd:string) AnnotationAssertion(rdfs:label "schizotypal personality disorder"^^xsd:string) SubClassOf( ) # Class: (acute inferoposterior infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:410.30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10648"^^xsd:string) AnnotationAssertion(rdfs:label "acute inferoposterior infarction"^^xsd:string) SubClassOf( ) # Class: (acute inferolateral myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:410.20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10649"^^xsd:string) AnnotationAssertion(rdfs:label "acute inferolateral myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (acute anterolateral myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:410.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10651"^^xsd:string) AnnotationAssertion(rdfs:label "acute anterolateral myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alzheimer%27s_disease"^^xsd:string) Annotation( "http://www.merriam-webster.com/medical/alzheimer%27s%20disease"^^xsd:string) Annotation( "http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet"^^xsd:string) "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:502500"^^xsd:string) AnnotationAssertion( "EFO:0000249"^^xsd:string) AnnotationAssertion( "EFO:1001870"^^xsd:string) AnnotationAssertion( "GARD:10254"^^xsd:string) AnnotationAssertion( "ICD9CM:331.0"^^xsd:string) AnnotationAssertion( "MESH:D000544"^^xsd:string) AnnotationAssertion( "MONDO:0004975"^^xsd:string) AnnotationAssertion( "NCI:C2866"^^xsd:string) AnnotationAssertion( "AD"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Susceptibility To"^^xsd:string) AnnotationAssertion( "Alzheimer Sclerosis"^^xsd:string) AnnotationAssertion( "Alzheimer Syndrome"^^xsd:string) AnnotationAssertion( "Alzheimer Type Dementia"^^xsd:string) AnnotationAssertion( "Alzheimer Type Dementia (ATD)"^^xsd:string) AnnotationAssertion( "Alzheimer Type Senile Dementia"^^xsd:string) AnnotationAssertion( "Alzheimer dementia (AD)"^^xsd:string) AnnotationAssertion( "Alzheimer disease"^^xsd:string) AnnotationAssertion( "Alzheimers dementia"^^xsd:string) AnnotationAssertion( "Early Onset Alzheimer Disease"^^xsd:string) AnnotationAssertion( "Familial Alzheimer Disease (FAD)"^^xsd:string) AnnotationAssertion( "Focal Onset Alzheimer's Disease"^^xsd:string) AnnotationAssertion( "SDAT"^^xsd:string) AnnotationAssertion( "acute confusional senile dementia"^^xsd:string) AnnotationAssertion( "presenile Alzheimer dementia"^^xsd:string) AnnotationAssertion( "presenile dementia"^^xsd:string) AnnotationAssertion( "primary senile degenerative dementia"^^xsd:string) AnnotationAssertion( "senile dementia"^^xsd:string) AnnotationAssertion( "ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY"^^xsd:string) AnnotationAssertion( "ALZHEIMER DISEASE, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "EARLY-ONSET FAMILIAL ALZHEIMER DISEASE"^^xsd:string) AnnotationAssertion( "Late Onset Alzheimer Disease"^^xsd:string) AnnotationAssertion( "late-onset Alzheimers disease"^^xsd:string) AnnotationAssertion( "presenile and senile dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Early-Onset, Susceptibility To"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Late-Onset, Susceptibility To"^^xsd:string) AnnotationAssertion( "Alzheimer disease, association with"^^xsd:string) AnnotationAssertion( "alpha-2-macroglobulin polymorphism"^^xsd:string) AnnotationAssertion( "familial Alzheimer disease"^^xsd:string) AnnotationAssertion( "transferrin variant C1/C2"^^xsd:string) AnnotationAssertion( "DOID:10652"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipoma of colon) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5493"^^xsd:string) AnnotationAssertion( "RDO:9004391"^^xsd:string) AnnotationAssertion( "colonic lipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10655"^^xsd:string) AnnotationAssertion(rdfs:label "lipoma of colon"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon leiomyoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5492"^^xsd:string) AnnotationAssertion( "colonic leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10656"^^xsd:string) AnnotationAssertion(rdfs:label "colon leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colonic lymphangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001093"^^xsd:string) AnnotationAssertion( "NCI:C5500"^^xsd:string) AnnotationAssertion( "lymphangioma of colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10657"^^xsd:string) AnnotationAssertion(rdfs:label "colonic lymphangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (residual stage of open angle glaucoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.15"^^xsd:string) AnnotationAssertion( "ICD9CM:365.15"^^xsd:string) AnnotationAssertion( "open-angle glaucoma residual stage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1066"^^xsd:string) AnnotationAssertion(rdfs:label "residual stage of open angle glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum neuroblastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45418"^^xsd:string) "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000367"^^xsd:string) AnnotationAssertion( "NCI:C6628"^^xsd:string) AnnotationAssertion( "RDO:9002771"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6628"^^xsd:string) "neuroblastoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10660"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (mediastinum ganglioneuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6627"^^xsd:string) AnnotationAssertion( "ganglioneuroblastoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10661"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum ganglioneuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (open-angle glaucoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html"^^xsd:string) "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004190"^^xsd:string) AnnotationAssertion( "EFO:0021425"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.1"^^xsd:string) AnnotationAssertion( "ICD9CM:365.1"^^xsd:string) AnnotationAssertion( "MESH:D005902"^^xsd:string) AnnotationAssertion( "NCI:C34641"^^xsd:string) AnnotationAssertion( "Compensative Glaucoma"^^xsd:string) AnnotationAssertion( "Compensative Glaucomas"^^xsd:string) AnnotationAssertion( "Glaucoma Simplex"^^xsd:string) AnnotationAssertion( "Open Angle Glaucomas"^^xsd:string) AnnotationAssertion( "Simple Glaucoma"^^xsd:string) AnnotationAssertion( "compensated glaucoma"^^xsd:string) AnnotationAssertion( "compensated glaucomas"^^xsd:string) AnnotationAssertion( "glaucoma simplices"^^xsd:string) AnnotationAssertion( "simple glaucomas"^^xsd:string) AnnotationAssertion( "wide-angle glaucoma"^^xsd:string) AnnotationAssertion( "Pigmentary Glaucoma"^^xsd:string) AnnotationAssertion( "Pigmentary Glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1067"^^xsd:string) AnnotationAssertion(rdfs:label "open-angle glaucoma"^^xsd:string) SubClassOf( ) # Class: (juvenile glaucoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Juvenile_open_angle_glaucoma"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/early-onset-glaucoma"^^xsd:string) "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:137750"^^xsd:string) AnnotationAssertion( "MYOC-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C564234"^^xsd:string) AnnotationAssertion( "ORDO:98977"^^xsd:string) AnnotationAssertion( "GLC1A"^^xsd:string) AnnotationAssertion( "Glaucoma 1, Open Angle, A"^^xsd:string) AnnotationAssertion( "glaucoma of childhood"^^xsd:string) AnnotationAssertion( "GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "GLAUCOMA 1, OPEN ANGLE, A, DIGENIC"^^xsd:string) AnnotationAssertion( "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1"^^xsd:string) AnnotationAssertion( "GLC1L"^^xsd:string) AnnotationAssertion( "JOAG1 GLAUCOMA 1, OPEN ANGLE, L"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1068"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (separation anxiety disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Separation_anxiety_disorder"^^xsd:string) "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001916"^^xsd:string) AnnotationAssertion( "MESH:D001010"^^xsd:string) AnnotationAssertion( "separation anxiety"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10685"^^xsd:string) AnnotationAssertion(rdfs:label "separation anxiety disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lactocele) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Galactocele"^^xsd:string) "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N64.89"^^xsd:string) AnnotationAssertion( "ICD9CM:611.5"^^xsd:string) AnnotationAssertion( "MESH:C535998"^^xsd:string) AnnotationAssertion( "NCI:C3515"^^xsd:string) AnnotationAssertion( "Galactocoele"^^xsd:string) AnnotationAssertion( "Galactocoele of childhood"^^xsd:string) AnnotationAssertion( "galactocele"^^xsd:string) AnnotationAssertion( "lacteal cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10686"^^xsd:string) AnnotationAssertion(rdfs:label "lactocele"^^xsd:string) SubClassOf( ) # Class: (hypertrophy of breast) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Breast_hypertrophy"^^xsd:string) "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:611.1"^^xsd:string) AnnotationAssertion( "NCI:C3125"^^xsd:string) AnnotationAssertion( "breasts enlarged"^^xsd:string) AnnotationAssertion( "large breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10688"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophy of breast"^^xsd:string) SubClassOf( ) # Class: (mastitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25940456"^^xsd:string) "A breast disease characterized by painful infection of the breast tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001034"^^xsd:string) AnnotationAssertion( "MESH:D008413"^^xsd:string) AnnotationAssertion( "NCI:C53662"^^xsd:string) AnnotationAssertion( "breast inflammation"^^xsd:string) AnnotationAssertion( "inflammatory breast disease"^^xsd:string) AnnotationAssertion( "inflammatory disease of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10690"^^xsd:string) AnnotationAssertion(rdfs:label "mastitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fat necrosis of breast) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html"^^xsd:string) "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N64.1"^^xsd:string) AnnotationAssertion( "ICD9CM:611.3"^^xsd:string) AnnotationAssertion( "NCI:C3661"^^xsd:string) AnnotationAssertion( "breast fat necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10691"^^xsd:string) AnnotationAssertion(rdfs:label "fat necrosis of breast"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic endophthalmitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:360.03"^^xsd:string) AnnotationAssertion( "RDO:9003026"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10697"^^xsd:string) AnnotationAssertion(rdfs:label "chronic endophthalmitis"^^xsd:string) SubClassOf( ) # Class: (paragonimiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007418"^^xsd:string) AnnotationAssertion( "GARD:9815"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.4"^^xsd:string) AnnotationAssertion( "ICD9CM:121.2"^^xsd:string) AnnotationAssertion( "MESH:D010237"^^xsd:string) AnnotationAssertion( "NCI:C84995"^^xsd:string) AnnotationAssertion( "Infection by Paragonimus"^^xsd:string) AnnotationAssertion( "Paragonimiases"^^xsd:string) AnnotationAssertion( "Paragonimus westermani Infection"^^xsd:string) AnnotationAssertion( "lung fluke disease"^^xsd:string) AnnotationAssertion( "lung fluke infection"^^xsd:string) AnnotationAssertion( "pulmonary paragonimiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10699"^^xsd:string) AnnotationAssertion(rdfs:label "paragonimiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary open angle glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/"^^xsd:string) "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137760"^^xsd:string) AnnotationAssertion( "OMIA:001870"^^xsd:string) AnnotationAssertion( "OMIA:001976"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.11"^^xsd:string) AnnotationAssertion( "ICD9CM:365.11"^^xsd:string) AnnotationAssertion( "MESH:C562750"^^xsd:string) AnnotationAssertion( "NCI:C35394"^^xsd:string) AnnotationAssertion( "POAG"^^xsd:string) AnnotationAssertion( "chronic simple glaucoma"^^xsd:string) AnnotationAssertion( "GLAUCOMA 1, OPEN ANGLE, E"^^xsd:string) AnnotationAssertion( "GLC1E"^^xsd:string) AnnotationAssertion( "primary open angle glaucoma, ADAMTS10-related"^^xsd:string) AnnotationAssertion( "primary open angle glaucoma, adult-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1070"^^xsd:string) AnnotationAssertion(rdfs:label "primary open angle glaucoma"^^xsd:string) SubClassOf( ) # Class: (giardiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Giardiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.1"^^xsd:string) AnnotationAssertion( "ICD9CM:007.1"^^xsd:string) AnnotationAssertion( "MESH:D005873"^^xsd:string) AnnotationAssertion( "beaver feaver"^^xsd:string) AnnotationAssertion( "giardiases"^^xsd:string) AnnotationAssertion( "infection by Giardia lamblia"^^xsd:string) AnnotationAssertion( "lambliases"^^xsd:string) AnnotationAssertion( "lambliasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10718"^^xsd:string) AnnotationAssertion(rdfs:label "giardiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (toxic diffuse goiter) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6549"^^xsd:string) AnnotationAssertion( "ICD9CM:242.00"^^xsd:string) AnnotationAssertion( "RDO:9003954"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10719"^^xsd:string) AnnotationAssertion(rdfs:label "toxic diffuse goiter"^^xsd:string) SubClassOf( ) # Class: (renal hypertension) AnnotationAssertion(Annotation( "MESH:D006977"^^xsd:string) "Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN."^^xsd:string) AnnotationAssertion( "EFO:1002039"^^xsd:string) AnnotationAssertion( "MESH:D006977"^^xsd:string) AnnotationAssertion( "NCI:C3121"^^xsd:string) AnnotationAssertion( "renal hypertensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1073"^^xsd:string) AnnotationAssertion(rdfs:label "renal hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney failure) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renal_failure"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/kidneyfailure.html"^^xsd:string) "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002048"^^xsd:string) AnnotationAssertion( "ICD10CM:N19"^^xsd:string) AnnotationAssertion( "ICD9CM:586"^^xsd:string) AnnotationAssertion( "MESH:D051437"^^xsd:string) AnnotationAssertion( "NCI:C4376"^^xsd:string) AnnotationAssertion( "Kidney Insufficiencies"^^xsd:string) AnnotationAssertion( "Kidney Insufficiency"^^xsd:string) AnnotationAssertion( "Renal Failure"^^xsd:string) AnnotationAssertion( "Renal Failures"^^xsd:string) AnnotationAssertion( "Renal Insufficiencies"^^xsd:string) AnnotationAssertion( "kidney failures"^^xsd:string) AnnotationAssertion( "renal unsufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1074"^^xsd:string) AnnotationAssertion(rdfs:label "kidney failure"^^xsd:string) SubClassOf( ) # Class: (cerebral lipidosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:330.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10742"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral lipidosis"^^xsd:string) SubClassOf( ) # Class: (broad ligament malignant neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26140828"^^xsd:string) "A uterine adnexa cancer that is located_in the broad ligament. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C57.1"^^xsd:string) AnnotationAssertion( "ICD9CM:183.3"^^xsd:string) AnnotationAssertion( "NCI:C179934"^^xsd:string) AnnotationAssertion( "malignant neoplasm of broad ligament of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10744"^^xsd:string) AnnotationAssertion(rdfs:label "broad ligament malignant neoplasm"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (otitis media) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otitis_media"^^xsd:string) "A otitis which involves inflammation of the middle ear. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166760"^^xsd:string) AnnotationAssertion( "EFO:0004992"^^xsd:string) AnnotationAssertion( "ICD10CM:H66.9"^^xsd:string) AnnotationAssertion( "ICD9CM:382.9"^^xsd:string) AnnotationAssertion( "MESH:D010033"^^xsd:string) AnnotationAssertion( "NCI:C34885"^^xsd:string) AnnotationAssertion( "A2ML1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COME/ROM"^^xsd:string) AnnotationAssertion( "Middle Ear Inflammation"^^xsd:string) AnnotationAssertion( "OMS"^^xsd:string) AnnotationAssertion( "FAMILIAL OTITIS MEDIA"^^xsd:string) AnnotationAssertion( "Nonsyndromic otitis media"^^xsd:string) AnnotationAssertion( "OTITIS MEDIA, CHRONIC/RECURRENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OTITIS MEDIA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "SUSCEPTIBILITY TO NONSYNDROMIC OTITIS MEDIA"^^xsd:string) AnnotationAssertion( "DOID:10754"^^xsd:string) AnnotationAssertion(rdfs:label "otitis media"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (petrositis) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/petrositis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm"^^xsd:string) "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H70.2"^^xsd:string) AnnotationAssertion( "ICD10CM:H70.21"^^xsd:string) AnnotationAssertion( "ICD10CM:H70.22"^^xsd:string) AnnotationAssertion( "ICD9CM:383.2"^^xsd:string) AnnotationAssertion( "ICD9CM:383.21"^^xsd:string) AnnotationAssertion( "ICD9CM:383.22"^^xsd:string) AnnotationAssertion( "MESH:D059270"^^xsd:string) AnnotationAssertion( "MONDO:0001109"^^xsd:string) AnnotationAssertion( "Gradenigo Lannois syndrome"^^xsd:string) AnnotationAssertion( "Gradenigo Syndrome"^^xsd:string) AnnotationAssertion( "Gradenigo's Syndrome"^^xsd:string) AnnotationAssertion( "Gradenigos Syndrome"^^xsd:string) AnnotationAssertion( "acute petrositis"^^xsd:string) AnnotationAssertion( "chronic petrositis"^^xsd:string) AnnotationAssertion( "petrositides"^^xsd:string) AnnotationAssertion( "petrous apicitides"^^xsd:string) AnnotationAssertion( "petrous apicitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "inflammation of petrous bone"^^xsd:string) AnnotationAssertion( "DOID:10755"^^xsd:string) AnnotationAssertion(rdfs:label "petrositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic pyelonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N11"^^xsd:string) AnnotationAssertion( "ICD10CM:N11.9"^^xsd:string) AnnotationAssertion( "ICD9CM:590.0"^^xsd:string) AnnotationAssertion( "NCI:C123216"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1076"^^xsd:string) AnnotationAssertion(rdfs:label "chronic pyelonephritis"^^xsd:string) SubClassOf( ) # Class: (portal hypertension) AnnotationAssertion(Annotation( "MESH:D006975"^^xsd:string) "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN."^^xsd:string) AnnotationAssertion( "EFO:0000666"^^xsd:string) AnnotationAssertion( "GARD:8229"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.6"^^xsd:string) AnnotationAssertion( "ICD9CM:572.3"^^xsd:string) AnnotationAssertion( "MESH:D006975"^^xsd:string) AnnotationAssertion( "MIM:PS617068"^^xsd:string) AnnotationAssertion( "NCI:C3119"^^xsd:string) AnnotationAssertion( "Cruveilhier Baumgarten Syndrome"^^xsd:string) AnnotationAssertion( "NCPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10762"^^xsd:string) AnnotationAssertion(rdfs:label "portal hypertension"^^xsd:string) SubClassOf( ) # Class: (hypertension) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypertension"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24352797"^^xsd:string) "An artery disease characterized by chronic elevated blood pressure in the arteries. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000537"^^xsd:string) AnnotationAssertion( "ICD9CM:401-405.99"^^xsd:string) AnnotationAssertion( "MESH:D006973"^^xsd:string) AnnotationAssertion( "NCI:C3117"^^xsd:string) AnnotationAssertion( "HTN"^^xsd:string) AnnotationAssertion( "high blood pressure"^^xsd:string) AnnotationAssertion( "high blood pressures"^^xsd:string) AnnotationAssertion( "hyperpiesia"^^xsd:string) AnnotationAssertion( "vascular hypertensive disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hypertensive disease"^^xsd:string) AnnotationAssertion( "increased aldosterone to renin ratio"^^xsd:string) AnnotationAssertion( "DOID:10763"^^xsd:string) AnnotationAssertion(rdfs:label "hypertension"^^xsd:string) SubClassOf( ) # Class: (thrombotic thrombocytopenic purpura) AnnotationAssertion(Annotation( "MESH:D011697"^^xsd:string) "An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE."^^xsd:string) AnnotationAssertion( "MIM:274150"^^xsd:string) AnnotationAssertion( "GARD:9430"^^xsd:string) AnnotationAssertion( "ICD10CM:M31.19"^^xsd:string) AnnotationAssertion( "MESH:D011697"^^xsd:string) AnnotationAssertion( "NCI:C78797"^^xsd:string) AnnotationAssertion( "ADAMTS13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Familial Thrombotic Microangiopathy"^^xsd:string) AnnotationAssertion( "Familial Thrombotic Thrombocytopenia Purpura"^^xsd:string) AnnotationAssertion( "Familial Thrombotic Thrombocytopenic Purpura"^^xsd:string) AnnotationAssertion( "MICROANGIOPATHIC HEMOLYTIC ANEMIA"^^xsd:string) AnnotationAssertion( "Moschcowitz disease"^^xsd:string) AnnotationAssertion( "Moschcowitz's syndrome"^^xsd:string) AnnotationAssertion( "Moschkowitz disease"^^xsd:string) AnnotationAssertion( "TTP"^^xsd:string) AnnotationAssertion( "USS"^^xsd:string) AnnotationAssertion( "Upshaw-Schulman syndrome"^^xsd:string) AnnotationAssertion( "congenital microangiopathic hemolytic anemia"^^xsd:string) AnnotationAssertion( "congenital thrombotic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "deficiency of Upshaw factor"^^xsd:string) AnnotationAssertion( "hereditary thrombotic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "hereditary thrombotic thrombocytopenic purpura, infantile- or adult-onset"^^xsd:string) AnnotationAssertion( "thrombotic thrombopenic purpura"^^xsd:string) AnnotationAssertion( "Familial TTP/HUS"^^xsd:string) AnnotationAssertion( "Familial thrombotic thrombocytopenic purpura / haemolytic uraemic syndrome"^^xsd:string) AnnotationAssertion( "thrombotic thrombocytopenic purpura, adult onset"^^xsd:string) AnnotationAssertion( "thrombotic thrombocytopenic purpura, chronic relapsing"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10772"^^xsd:string) AnnotationAssertion(rdfs:label "thrombotic thrombocytopenic purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bubonic plague) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bubonic_plague"^^xsd:string) "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0050068"^^xsd:string) AnnotationAssertion( "GARD:183"^^xsd:string) AnnotationAssertion( "ICD10CM:A20.0"^^xsd:string) AnnotationAssertion( "ICD9CM:020.0"^^xsd:string) AnnotationAssertion( "black death"^^xsd:string) AnnotationAssertion( "pestis minor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10773"^^xsd:string) AnnotationAssertion(rdfs:label "bubonic plague"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fiedler's myocarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I40.1"^^xsd:string) AnnotationAssertion( "ICD9CM:422.91"^^xsd:string) AnnotationAssertion( "fiedler myocarditis"^^xsd:string) AnnotationAssertion( "idiopathic myocarditis"^^xsd:string) AnnotationAssertion( "isolated (Fiedler's) myocarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10778"^^xsd:string) AnnotationAssertion(rdfs:label "fiedler's myocarditis"^^xsd:string) SubClassOf( ) # Class: (septic myocarditis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27574633"^^xsd:string) "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I40.0"^^xsd:string) AnnotationAssertion( "ICD9CM:422.92"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10779"^^xsd:string) AnnotationAssertion(rdfs:label "septic myocarditis"^^xsd:string) SubClassOf( ) # Class: (primary polycythemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia"^^xsd:string) "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:289.6"^^xsd:string) AnnotationAssertion( "MIM:PS133100"^^xsd:string) AnnotationAssertion( "NCI:C26955"^^xsd:string) AnnotationAssertion( "RDO:9002589"^^xsd:string) AnnotationAssertion( "familial erythrocytosis"^^xsd:string) AnnotationAssertion( "familiar polycythemia"^^xsd:string) AnnotationAssertion( "primary polycythemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN JOHNSTOWN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN NEW MEXICO"^^xsd:string) AnnotationAssertion( "DOID:10780"^^xsd:string) AnnotationAssertion(rdfs:label "primary polycythemia"^^xsd:string) SubClassOf( ) # Class: (mesenteric lymphadenitis) AnnotationAssertion(Annotation( "MESH:D008640"^^xsd:string) "INFLAMMATION of LYMPH NODES in the MESENTERY."^^xsd:string) AnnotationAssertion( "ICD10CM:I88.0"^^xsd:string) AnnotationAssertion( "ICD9CM:289.2"^^xsd:string) AnnotationAssertion( "MESH:D008640"^^xsd:string) AnnotationAssertion( "NCI:C26830"^^xsd:string) AnnotationAssertion( "mesenteric adenitis"^^xsd:string) AnnotationAssertion( "mesenteric lymphadenitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10782"^^xsd:string) AnnotationAssertion(rdfs:label "mesenteric lymphadenitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (methemoglobinemia) AnnotationAssertion(Annotation( "MESH:D008708"^^xsd:string) "The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "ICD10CM:D74"^^xsd:string) AnnotationAssertion( "ICD9CM:289.7"^^xsd:string) AnnotationAssertion( "MESH:D008708"^^xsd:string) AnnotationAssertion( "NCI:C34817"^^xsd:string) AnnotationAssertion( "methemoglobinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN TUBINGEN"^^xsd:string) AnnotationAssertion( "DOID:10783"^^xsd:string) AnnotationAssertion(rdfs:label "methemoglobinemia"^^xsd:string) SubClassOf( ) # Class: (Queensland tick typhus) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "Australian tick typhus"^^xsd:string) AnnotationAssertion( "North Queensland tick typhus"^^xsd:string) AnnotationAssertion( "Rickettsia australis spotted fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10784"^^xsd:string) AnnotationAssertion(rdfs:label "Queensland tick typhus"^^xsd:string) SubClassOf( ) # Class: (premature menopause) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26316242"^^xsd:string) "An ovarian dysfunction that is the loss of normal ovarian function before age 40. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009005"^^xsd:string) AnnotationAssertion( "ICD10CM:E28.31"^^xsd:string) AnnotationAssertion( "ICD9CM:256.31"^^xsd:string) AnnotationAssertion( "MESH:D008594"^^xsd:string) AnnotationAssertion( "NCI:C80099"^^xsd:string) AnnotationAssertion( "menopause praecox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10787"^^xsd:string) AnnotationAssertion(rdfs:label "premature menopause"^^xsd:string) SubClassOf( ) # Class: (setariasis) AnnotationAssertion(Annotation( "http://www.jstor.org/stable/pdfplus/3277411.pdf"^^xsd:string) "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007482"^^xsd:string) AnnotationAssertion( "MESH:D012719"^^xsd:string) AnnotationAssertion( "infectious disease by Setaria"^^xsd:string) AnnotationAssertion( "setariases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1079"^^xsd:string) AnnotationAssertion(rdfs:label "setariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic frontal sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J32.1"^^xsd:string) AnnotationAssertion( "ICD9CM:473.1"^^xsd:string) AnnotationAssertion( "NCI:C34473"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10790"^^xsd:string) AnnotationAssertion(rdfs:label "chronic frontal sinusitis"^^xsd:string) SubClassOf( ) # Class: (frontal sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) Annotation( "http://www3.niaid.nih.gov/topics/sinusitis/overview.htm"^^xsd:string) "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D015522"^^xsd:string) AnnotationAssertion( "NCI:C34626"^^xsd:string) AnnotationAssertion( "frontal sinusitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10791"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinusitis"^^xsd:string) SubClassOf( ) # Class: (chronic maxillary sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A maxillary sinusitis which lasts for 12 weeks or more. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:473.0"^^xsd:string) AnnotationAssertion( "NCI:C34477"^^xsd:string) AnnotationAssertion( "chronic antritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10792"^^xsd:string) AnnotationAssertion(rdfs:label "chronic maxillary sinusitis"^^xsd:string) SubClassOf( ) # Class: (chronic sphenoidal sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) "A sphenoid sinusitis which lasts for 12 weeks or more. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J32.3"^^xsd:string) AnnotationAssertion( "ICD9CM:473.3"^^xsd:string) AnnotationAssertion( "NCI:C34480"^^xsd:string) AnnotationAssertion( "RDO:9003990"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:266384001"^^xsd:string) "Sphenoidal sinus-chr."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10793"^^xsd:string) AnnotationAssertion(rdfs:label "chronic sphenoidal sinusitis"^^xsd:string) SubClassOf( ) # Class: (sphenoid sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007489"^^xsd:string) AnnotationAssertion( "MESH:D015524"^^xsd:string) AnnotationAssertion( "NCI:C35031"^^xsd:string) AnnotationAssertion( "Sphenoid Sinusitides"^^xsd:string) AnnotationAssertion( "Sphenoidal Sinusitides"^^xsd:string) AnnotationAssertion( "Sphenoidal Sinusitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10794"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoid sinusitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (filariasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Filariasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B74"^^xsd:string) AnnotationAssertion( "ICD9CM:125.9"^^xsd:string) AnnotationAssertion( "MESH:D005368"^^xsd:string) AnnotationAssertion( "NCI:C34611"^^xsd:string) AnnotationAssertion( "Filariases"^^xsd:string) AnnotationAssertion( "disease due to superfamily Filarioidea"^^xsd:string) AnnotationAssertion( "elaeophoriases"^^xsd:string) AnnotationAssertion( "elaeophoriasis"^^xsd:string) AnnotationAssertion( "filarioidea infection"^^xsd:string) AnnotationAssertion( "filarioidea infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1080"^^xsd:string) AnnotationAssertion(rdfs:label "filariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute gonococcal epididymo-orchitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.13"^^xsd:string) AnnotationAssertion( "gonococcal epididymo-orchitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10802"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal epididymo-orchitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric ulcer) AnnotationAssertion(Annotation( "MESH:D013276"^^xsd:string) "Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)."^^xsd:string) AnnotationAssertion( "EFO:0009454"^^xsd:string) AnnotationAssertion( "ICD10CM:K25"^^xsd:string) AnnotationAssertion( "ICD9CM:531"^^xsd:string) AnnotationAssertion( "MESH:D013276"^^xsd:string) AnnotationAssertion( "NCI:C3388"^^xsd:string) AnnotationAssertion( "Stomach Ulcer"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with haemorrhage and perforation"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage AND with perforation but without obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage and obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage and perforation"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage and perforation, with obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage, with obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with hemorrhage, with perforation AND with obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with perforation"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with perforation AND obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer with perforation, with obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer without hemorrhage and without perforation"^^xsd:string) AnnotationAssertion( "acute gastric ulcer without hemorrhage, without perforation AND without obstruction"^^xsd:string) AnnotationAssertion( "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction"^^xsd:string) AnnotationAssertion( "bleeding acute gastric ulcer"^^xsd:string) AnnotationAssertion( "chronic gastric ulcer without hemorrhage AND without perforation"^^xsd:string) AnnotationAssertion( "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction"^^xsd:string) AnnotationAssertion( "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction"^^xsd:string) AnnotationAssertion( "gastric ulcers"^^xsd:string) AnnotationAssertion( "stomach ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10808"^^xsd:string) AnnotationAssertion(rdfs:label "gastric ulcer"^^xsd:string) SubClassOf( ) # Class: (mansonelliasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mansonelliasis"^^xsd:string) "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007357"^^xsd:string) AnnotationAssertion( "GARD:8216"^^xsd:string) AnnotationAssertion( "ICD10CM:B74.4"^^xsd:string) AnnotationAssertion( "MESH:D008368"^^xsd:string) AnnotationAssertion( "NCI:C84882"^^xsd:string) AnnotationAssertion( "Acanthocheilonema perstans Infection"^^xsd:string) AnnotationAssertion( "Acanthocheilonema perstans infections"^^xsd:string) AnnotationAssertion( "Dipetalonema perstans Infection"^^xsd:string) AnnotationAssertion( "Dipetalonema perstans Infections"^^xsd:string) AnnotationAssertion( "Mansonella perstans Infection"^^xsd:string) AnnotationAssertion( "Mansonella perstans Infections"^^xsd:string) AnnotationAssertion( "Mansonelliases"^^xsd:string) AnnotationAssertion( "Mansonelloses"^^xsd:string) AnnotationAssertion( "mansonellosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1081"^^xsd:string) AnnotationAssertion(rdfs:label "mansonelliasis"^^xsd:string) SubClassOf( ) # Class: (tibialis tendinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:726.72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10810"^^xsd:string) AnnotationAssertion(rdfs:label "tibialis tendinitis"^^xsd:string) SubClassOf( ) # Class: (nasal cavity cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nasal_cavity"^^xsd:string) "A respiratory system cancer that is located_in the nasal cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:160.0"^^xsd:string) AnnotationAssertion( "NCI:C4918"^^xsd:string) AnnotationAssertion( "RDO:9002281"^^xsd:string) AnnotationAssertion( "malignant neoplasm of nasal cavities"^^xsd:string) AnnotationAssertion( "malignant tumor of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10811"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity olfactory neuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7604"^^xsd:string) AnnotationAssertion( "olfactory neuroblastoma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10812"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity olfactory neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6074"^^xsd:string) AnnotationAssertion( "lymphoma of nasal cavity"^^xsd:string) AnnotationAssertion( "lymphoma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10813"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenum adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A duodenum cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000223"^^xsd:string) AnnotationAssertion( "NCI:C7889"^^xsd:string) AnnotationAssertion( "duodenal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of duodenum"^^xsd:string) AnnotationAssertion( "DOID:10816"^^xsd:string) AnnotationAssertion(rdfs:label "duodenum adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sexual sadism) AnnotationAssertion(Annotation( "MESH:D012448"^^xsd:string) "A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious."^^xsd:string) AnnotationAssertion( "ICD10CM:F65.52"^^xsd:string) AnnotationAssertion( "ICD9CM:302.84"^^xsd:string) AnnotationAssertion( "MESH:D012448"^^xsd:string) AnnotationAssertion( "NCI:C94358"^^xsd:string) AnnotationAssertion( "sadism"^^xsd:string) AnnotationAssertion( "sadisms"^^xsd:string) AnnotationAssertion( "sexual sadisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10817"^^xsd:string) AnnotationAssertion(rdfs:label "sexual sadism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dirofilariasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Dirofilariasis"^^xsd:string) "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007239"^^xsd:string) AnnotationAssertion( "GARD:11908"^^xsd:string) AnnotationAssertion( "ICD10CM:B74.8"^^xsd:string) AnnotationAssertion( "MESH:D004184"^^xsd:string) AnnotationAssertion( "Dirofilaria infectious disease"^^xsd:string) AnnotationAssertion( "Dirofilariases"^^xsd:string) AnnotationAssertion( "Heartworm Disease"^^xsd:string) AnnotationAssertion( "infection by Dirofilaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1082"^^xsd:string) AnnotationAssertion(rdfs:label "dirofilariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant essential hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:401.0"^^xsd:string) AnnotationAssertion( "NCI:C34802"^^xsd:string) AnnotationAssertion( "accelerated essential hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10823"^^xsd:string) AnnotationAssertion(rdfs:label "malignant essential hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant hypertension) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118"^^xsd:string) "A hypertension that is characterized by rapid onset of extremely high blood pressure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001031"^^xsd:string) AnnotationAssertion( "MESH:D006974"^^xsd:string) AnnotationAssertion( "NCI:C3118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10824"^^xsd:string) AnnotationAssertion(rdfs:label "malignant hypertension"^^xsd:string) SubClassOf( ) # Class: (essential hypertension) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Essential_hypertension"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html"^^xsd:string) "A hypertension with no known cause. It is the most common type of hypertension. (DO)"^^xsd:string) AnnotationAssertion( "MIM:145500"^^xsd:string) AnnotationAssertion( "MIM:603918"^^xsd:string) AnnotationAssertion( "MIM:604329"^^xsd:string) AnnotationAssertion( "MIM:607329"^^xsd:string) AnnotationAssertion( "MIM:608742"^^xsd:string) AnnotationAssertion( "MIM:610261"^^xsd:string) AnnotationAssertion( "MIM:610262"^^xsd:string) AnnotationAssertion( "MIM:610948"^^xsd:string) AnnotationAssertion( "MIM:611014"^^xsd:string) AnnotationAssertion( "EFO:1002032"^^xsd:string) AnnotationAssertion( "ICD10CM:I10"^^xsd:string) AnnotationAssertion( "ICD9CM:401"^^xsd:string) AnnotationAssertion( "MESH:D000075222"^^xsd:string) AnnotationAssertion( "MONDO:0001134"^^xsd:string) AnnotationAssertion( "NCI:C3478"^^xsd:string) AnnotationAssertion( "ORDO:243761"^^xsd:string) AnnotationAssertion( "EHT"^^xsd:string) AnnotationAssertion( "idiopathic hypertension"^^xsd:string) AnnotationAssertion( "primary hypertension"^^xsd:string) AnnotationAssertion( "ESSENTIAL HYPERTENSION, GENETIC"^^xsd:string) AnnotationAssertion( "HYPERTENSION, ESSENTIAL, BODY MASS-RELATED"^^xsd:string) AnnotationAssertion( "HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GNB3 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "HYT1"^^xsd:string) AnnotationAssertion( "HYT2"^^xsd:string) AnnotationAssertion( "HYT3"^^xsd:string) AnnotationAssertion( "HYT4"^^xsd:string) AnnotationAssertion( "HYT5"^^xsd:string) AnnotationAssertion( "HYT6"^^xsd:string) AnnotationAssertion( "HYT7"^^xsd:string) AnnotationAssertion( "HYT8"^^xsd:string) AnnotationAssertion( "Hypertension, salt-sensitive essential, susceptibility to"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "essential hypertension, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "DOID:10825"^^xsd:string) AnnotationAssertion(rdfs:label "essential hypertension"^^xsd:string) SubClassOf( ) # Class: (voyeurism) AnnotationAssertion(Annotation( "MESH:D014843"^^xsd:string) "A paraphilia characterized by repetitive looking at unsuspecting people, usually strangers, who are either naked, in the act of disrobing, or engaging in sexual activity, as the method for achieving sexual excitement."^^xsd:string) AnnotationAssertion( "ICD10CM:F65.3"^^xsd:string) AnnotationAssertion( "ICD9CM:302.82"^^xsd:string) AnnotationAssertion( "MESH:D014843"^^xsd:string) AnnotationAssertion( "NCI:C94360"^^xsd:string) AnnotationAssertion( "Voyeurisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10834"^^xsd:string) AnnotationAssertion(rdfs:label "voyeurism"^^xsd:string) SubClassOf( ) # Class: (chylocele of tunica vaginalis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:608.84"^^xsd:string) AnnotationAssertion( "RDO:9004645"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10835"^^xsd:string) AnnotationAssertion(rdfs:label "chylocele of tunica vaginalis"^^xsd:string) SubClassOf( ) # Class: (Eastern equine encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/EasternEquineEncephalitis/index.html"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) Annotation( "http://www.ncagr.gov/vet/FactSheets/EEE.htm"^^xsd:string) "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007242"^^xsd:string) AnnotationAssertion( "GARD:10821"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.2"^^xsd:string) AnnotationAssertion( "ICD9CM:062.2"^^xsd:string) AnnotationAssertion( "MESH:D020242"^^xsd:string) AnnotationAssertion( "Eastern Equine Encephalitides"^^xsd:string) AnnotationAssertion( "Eastern Equine Encephalomyelitides"^^xsd:string) AnnotationAssertion( "neuroinvasive Eastern equine encephalitis virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EEE"^^xsd:string) AnnotationAssertion( "DOID:10841"^^xsd:string) AnnotationAssertion(rdfs:label "Eastern equine encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Murray Valley encephalitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13007862"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.4"^^xsd:string) AnnotationAssertion( "ICD9CM:062.4"^^xsd:string) AnnotationAssertion( "Australian X disease"^^xsd:string) AnnotationAssertion( "Australian encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10842"^^xsd:string) AnnotationAssertion(rdfs:label "Murray Valley encephalitis"^^xsd:string) SubClassOf( ) # Class: (Western equine encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007546"^^xsd:string) AnnotationAssertion( "GARD:7888"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.1"^^xsd:string) AnnotationAssertion( "ICD9CM:062.1"^^xsd:string) AnnotationAssertion( "MESH:D020241"^^xsd:string) AnnotationAssertion( "NCI:C85227"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "WEE"^^xsd:string) AnnotationAssertion( "DOID:10843"^^xsd:string) AnnotationAssertion(rdfs:label "Western equine encephalitis"^^xsd:string) SubClassOf( ) # Class: (Japanese encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm"^^xsd:string) "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007332"^^xsd:string) AnnotationAssertion( "GARD:6797"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.0"^^xsd:string) AnnotationAssertion( "ICD9CM:062.0"^^xsd:string) AnnotationAssertion( "MESH:D004672"^^xsd:string) AnnotationAssertion( "NCI:C34577"^^xsd:string) AnnotationAssertion( "Japanese B Encephalitis"^^xsd:string) AnnotationAssertion( "Japanese B Viral Encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10844"^^xsd:string) AnnotationAssertion(rdfs:label "Japanese encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (St. Louis encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007495"^^xsd:string) AnnotationAssertion( "ICD10CM:A83.3"^^xsd:string) AnnotationAssertion( "ICD9CM:062.3"^^xsd:string) AnnotationAssertion( "MESH:D004674"^^xsd:string) AnnotationAssertion( "Saint Louis Encephalitis"^^xsd:string) AnnotationAssertion( "St. Louis Meningoencephalitides"^^xsd:string) AnnotationAssertion( "St. Louis Meningoencephalitis"^^xsd:string) AnnotationAssertion( "St. Louis Viral Encephalitis"^^xsd:string) AnnotationAssertion( "Type C Lethargic Encephalitis"^^xsd:string) AnnotationAssertion( "neuroinvasive St. Louis encephalitis virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10845"^^xsd:string) AnnotationAssertion(rdfs:label "St. Louis encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angiodysplasia of intestine) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:569.84"^^xsd:string) AnnotationAssertion( "RDO:9004387"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10846"^^xsd:string) AnnotationAssertion(rdfs:label "angiodysplasia of intestine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sexual masochism) AnnotationAssertion(Annotation( "MESH:D008398"^^xsd:string) "Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism."^^xsd:string) AnnotationAssertion( "ICD10CM:F65.51"^^xsd:string) AnnotationAssertion( "ICD9CM:302.83"^^xsd:string) AnnotationAssertion( "MESH:D008398"^^xsd:string) AnnotationAssertion( "NCI:C94356"^^xsd:string) AnnotationAssertion( "masochism"^^xsd:string) AnnotationAssertion( "masochisms"^^xsd:string) AnnotationAssertion( "sexual masochisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10849"^^xsd:string) AnnotationAssertion(rdfs:label "sexual masochism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Edwards syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trisomy-18"^^xsd:string) "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:758.2"^^xsd:string) AnnotationAssertion( "MESH:D000073842"^^xsd:string) AnnotationAssertion( "NCI:C101362"^^xsd:string) AnnotationAssertion( "NCI:C36626"^^xsd:string) AnnotationAssertion( "E3 trisomy"^^xsd:string) AnnotationAssertion( "complete trisomy 18 syndrome"^^xsd:string) AnnotationAssertion( "mosaic trisomy 18 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 18"^^xsd:string) AnnotationAssertion( "trisomy 18 syndrome"^^xsd:string) AnnotationAssertion( "trisomy E syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1085"^^xsd:string) AnnotationAssertion(rdfs:label "Edwards syndrome"^^xsd:string) SubClassOf( ) # Class: (middle ear cholesterol granuloma) AnnotationAssertion(Annotation( "http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/16354369"^^xsd:string) "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3655"^^xsd:string) AnnotationAssertion( "cholesterin granuloma"^^xsd:string) AnnotationAssertion( "cholesterin granuloma of middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10852"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear cholesterol granuloma"^^xsd:string) SubClassOf( ) # Class: (salivary gland disease) AnnotationAssertion(Annotation( "https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html"^^xsd:string) "A mouth disease located_in the salivary gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008581"^^xsd:string) AnnotationAssertion( "ICD9CM:527.8"^^xsd:string) AnnotationAssertion( "MESH:D012466"^^xsd:string) AnnotationAssertion( "non-neoplastic salivary gland disease"^^xsd:string) AnnotationAssertion( "salivary gland diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10854"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland disease"^^xsd:string) SubClassOf( ) # Class: (paralytic squint) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009678"^^xsd:string) AnnotationAssertion( "ICD10CM:H49"^^xsd:string) AnnotationAssertion( "ICD9CM:378.5"^^xsd:string) AnnotationAssertion( "RDO:9003352"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:155195008"^^xsd:string) "Incomitant dissociation"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:378.5"^^xsd:string) "Paralytic strabismus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10863"^^xsd:string) AnnotationAssertion(rdfs:label "paralytic squint"^^xsd:string) SubClassOf( ) # Class: (partial third-nerve palsy) AnnotationAssertion( "ICD9CM:378.51"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:194118007"^^xsd:string) "Third nerve palsy with pupil sparing"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:378.51"^^xsd:string) "Third or oculomotor nerve palsy, partial"^^xsd:string) AnnotationAssertion( "partial third-nerve palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10864"^^xsd:string) AnnotationAssertion(rdfs:label "partial third-nerve palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (abducens nerve palsy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35356946/"^^xsd:string) Annotation( "https://www.aapos.org/glossary/sixth-nerve-palsy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK482177/"^^xsd:string) "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002293"^^xsd:string) AnnotationAssertion( "GARD:9482"^^xsd:string) AnnotationAssertion( "MESH:D020434"^^xsd:string) AnnotationAssertion( "MIM:100200"^^xsd:string) AnnotationAssertion( "NCI:C27592"^^xsd:string) AnnotationAssertion( "NCI:C27593"^^xsd:string) AnnotationAssertion( "6th Nerve Palsies"^^xsd:string) AnnotationAssertion( "6th Nerve Palsy"^^xsd:string) AnnotationAssertion( "Abducens Nerve Diseases"^^xsd:string) AnnotationAssertion( "Abducens Nerve Palsies"^^xsd:string) AnnotationAssertion( "Abducens Palsy"^^xsd:string) AnnotationAssertion( "Abducens Palsy, Childhood, Benign Recurrent"^^xsd:string) AnnotationAssertion( "Benign Recurrent Abducens Palsy of Childhood"^^xsd:string) AnnotationAssertion( "Benign Recurrent Abducens Palsy, Children"^^xsd:string) AnnotationAssertion( "Cranial Nerve VI Diseases"^^xsd:string) AnnotationAssertion( "Cranial Nerve VI Palsy"^^xsd:string) AnnotationAssertion( "Lateral Rectus Palsies"^^xsd:string) AnnotationAssertion( "Lateral Rectus Palsy"^^xsd:string) AnnotationAssertion( "Lateral rectus muscle denervation paresis"^^xsd:string) AnnotationAssertion( "Nerve Palsies, VI"^^xsd:string) AnnotationAssertion( "Sixth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Sixth Cranial Nerve Disorders"^^xsd:string) AnnotationAssertion( "Sixth Cranial Nerve Palsy"^^xsd:string) AnnotationAssertion( "Sixth Nerve Palsies"^^xsd:string) AnnotationAssertion( "Sixth Nerve Palsy"^^xsd:string) AnnotationAssertion( "VI Nerve Palsy"^^xsd:string) AnnotationAssertion( "VIth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "VIth nerve disorder"^^xsd:string) AnnotationAssertion( "VIth nerve paralysis"^^xsd:string) AnnotationAssertion( "abducens nerve disease"^^xsd:string) AnnotationAssertion( "abducens nerve disorder"^^xsd:string) AnnotationAssertion( "abducens nerve weakness"^^xsd:string) AnnotationAssertion( "disorder of abducent nerve"^^xsd:string) AnnotationAssertion( "lateral rectus muscle innervation disorder"^^xsd:string) AnnotationAssertion( "sixth cranial nerve disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10865"^^xsd:string) AnnotationAssertion(rdfs:label "abducens nerve palsy"^^xsd:string) SubClassOf( ) # Class: (total third-nerve palsy) AnnotationAssertion( "ICD9CM:378.52"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:194119004"^^xsd:string) "Third nerve palsy with pupil involved"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:378.52"^^xsd:string) "Third or oculomotor nerve palsy, total"^^xsd:string) AnnotationAssertion( "total oculomotor nerve palsy"^^xsd:string) AnnotationAssertion( "total third-nerve palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10866"^^xsd:string) AnnotationAssertion(rdfs:label "total third-nerve palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fourth cranial nerve palsy) AnnotationAssertion( "MIM:136480"^^xsd:string) AnnotationAssertion( "MESH:C565007"^^xsd:string) AnnotationAssertion( "Strabismus from Superior Oblique Palsy"^^xsd:string) AnnotationAssertion( "Superior Oblique Oculomotor Palsy, Familial Congenital"^^xsd:string) AnnotationAssertion( "familial congenital fourth cranial nerve palsy"^^xsd:string) AnnotationAssertion( "familial congenital trochlear nerve palsy"^^xsd:string) AnnotationAssertion( "fourth nerve palsies"^^xsd:string) AnnotationAssertion( "fourth nerve palsy"^^xsd:string) AnnotationAssertion( "fourth or trochlear nerve palsy"^^xsd:string) AnnotationAssertion( "trochlear nerve palsies"^^xsd:string) AnnotationAssertion( "trochlear nerve palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10869"^^xsd:string) AnnotationAssertion(rdfs:label "fourth cranial nerve palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (age related macular degeneration) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Macular_degeneration"^^xsd:string) "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0001365"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.30"^^xsd:string) AnnotationAssertion( "ICD9CM:362.50"^^xsd:string) AnnotationAssertion( "MIM:PS603075"^^xsd:string) AnnotationAssertion( "NCI:C84391"^^xsd:string) AnnotationAssertion( "age related maculopathies"^^xsd:string) AnnotationAssertion( "age related maculopathy"^^xsd:string) AnnotationAssertion( "senile macular degeneration"^^xsd:string) AnnotationAssertion( "senile macular retinal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10871"^^xsd:string) AnnotationAssertion(rdfs:label "age related macular degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kuhnt-Junius degeneration) AnnotationAssertion(Annotation( "MESH:D057135"^^xsd:string) "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision."^^xsd:string) AnnotationAssertion( "EFO:0004683"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.32"^^xsd:string) AnnotationAssertion( "ICD9CM:362.52"^^xsd:string) AnnotationAssertion( "MESH:D057135"^^xsd:string) AnnotationAssertion( "RDO:0007784"^^xsd:string) AnnotationAssertion( "Exudative Macular Degeneration"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:362.52"^^xsd:string) "Exudative senile macular degeneration of retina"^^xsd:string) AnnotationAssertion( "Neovascular Age-Related Macular Degeneration"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:362.52"^^xsd:string) "Senile macular degeneration, wet"^^xsd:string) AnnotationAssertion( "Wet Macular Degeneration"^^xsd:string) AnnotationAssertion( "Wet Macular Degenerations"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:16018000"^^xsd:string) "Wet senile macular retinal degeneration"^^xsd:string) AnnotationAssertion( "exudative age-related macular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10873"^^xsd:string) AnnotationAssertion(rdfs:label "Kuhnt-Junius degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (meningocele) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Spina_bifida#Meningocele"^^xsd:string) "A spina bifida that is characterized by herniation of the meninges between the vertebrae. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008588"^^xsd:string) AnnotationAssertion( "Acquired Meningocele"^^xsd:string) AnnotationAssertion( "Meningeal Herniation"^^xsd:string) AnnotationAssertion( "Meninges Herniation"^^xsd:string) AnnotationAssertion( "Meningoceles"^^xsd:string) AnnotationAssertion( "acquired meningoceles"^^xsd:string) AnnotationAssertion( "herniation of meninges"^^xsd:string) AnnotationAssertion( "meningeal herniations"^^xsd:string) AnnotationAssertion( "meninges herniations"^^xsd:string) AnnotationAssertion( "rudimentary meningocele"^^xsd:string) AnnotationAssertion( "rudimentary meningoceles"^^xsd:string) AnnotationAssertion( "traumatic meningocele"^^xsd:string) AnnotationAssertion( "traumatic meningoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1088"^^xsd:string) AnnotationAssertion(rdfs:label "meningocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (iliac vein thrombophlebitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I80.21"^^xsd:string) AnnotationAssertion( "ICD9CM:451.81"^^xsd:string) AnnotationAssertion( "phlebitis and thrombophlebitis of the iliac vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10880"^^xsd:string) AnnotationAssertion(rdfs:label "iliac vein thrombophlebitis"^^xsd:string) SubClassOf( ) # Class: (hand, foot and mouth disease) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007294"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.4"^^xsd:string) AnnotationAssertion( "ICD9CM:074.3"^^xsd:string) AnnotationAssertion( "MESH:D006232"^^xsd:string) AnnotationAssertion( "NCI:C128439"^^xsd:string) AnnotationAssertion( "Hand, Foot, Mouth Disease"^^xsd:string) AnnotationAssertion( "vesicular stomatitis and exanthem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10881"^^xsd:string) AnnotationAssertion(rdfs:label "hand, foot and mouth disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidemic pleurodynia) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia"^^xsd:string) "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007259"^^xsd:string) AnnotationAssertion( "ICD10CM:B33.0"^^xsd:string) AnnotationAssertion( "ICD9CM:074.1"^^xsd:string) AnnotationAssertion( "MESH:D011000"^^xsd:string) AnnotationAssertion( "Bamble disease"^^xsd:string) AnnotationAssertion( "Bornholm Disease"^^xsd:string) AnnotationAssertion( "Epidemic Myalgia"^^xsd:string) AnnotationAssertion( "Epidemic Myalgias"^^xsd:string) AnnotationAssertion( "Epidemic Pleurodynias"^^xsd:string) AnnotationAssertion( "devil's grip"^^xsd:string) AnnotationAssertion( "epidemic myositis"^^xsd:string) AnnotationAssertion( "epidemic pleurisy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10882"^^xsd:string) AnnotationAssertion(rdfs:label "epidemic pleurodynia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (herpangina) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Herpangina"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm"^^xsd:string) "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007306"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.5"^^xsd:string) AnnotationAssertion( "ICD9CM:074.0"^^xsd:string) AnnotationAssertion( "MESH:D006557"^^xsd:string) AnnotationAssertion( "herpanginas"^^xsd:string) AnnotationAssertion( "vesicular pharyngitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10883"^^xsd:string) AnnotationAssertion(rdfs:label "herpangina"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lepromatous leprosy) AnnotationAssertion(Annotation( "https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext"^^xsd:string) "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001057"^^xsd:string) AnnotationAssertion( "ICD10CM:A30.5"^^xsd:string) AnnotationAssertion( "ICD9CM:030.0"^^xsd:string) AnnotationAssertion( "MESH:D015440"^^xsd:string) AnnotationAssertion( "Cutaneous Leprosy"^^xsd:string) AnnotationAssertion( "cutaneous leprosies"^^xsd:string) AnnotationAssertion( "lepromatous leprosies"^^xsd:string) AnnotationAssertion( "nodular leprosies"^^xsd:string) AnnotationAssertion( "nodular leprosy"^^xsd:string) AnnotationAssertion( "type L leprosy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10887"^^xsd:string) AnnotationAssertion(rdfs:label "lepromatous leprosy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tethered spinal cord syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001210"^^xsd:string) AnnotationAssertion( "GARD:4018"^^xsd:string) AnnotationAssertion( "NCI:C99080"^^xsd:string) AnnotationAssertion( "occult spinal dysraphism"^^xsd:string) AnnotationAssertion( "occult spinal dysraphism sequence"^^xsd:string) AnnotationAssertion( "occult spinal dysraphisms"^^xsd:string) AnnotationAssertion( "tethered cord syndrome"^^xsd:string) AnnotationAssertion( "tethered cord syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1089"^^xsd:string) AnnotationAssertion(rdfs:label "tethered spinal cord syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypospadias) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypospadias"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=hypospadias"^^xsd:string) "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004209"^^xsd:string) AnnotationAssertion( "ICD10CM:Q54"^^xsd:string) AnnotationAssertion( "MESH:D007021"^^xsd:string) AnnotationAssertion( "MIM:PS300633"^^xsd:string) AnnotationAssertion( "NCI:C40341"^^xsd:string) AnnotationAssertion( "ORDO:440"^^xsd:string) AnnotationAssertion( "familial hypospadias"^^xsd:string) AnnotationAssertion( "hypospadia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10892"^^xsd:string) AnnotationAssertion(rdfs:label "hypospadias"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcephaly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Microcephaly"^^xsd:string) "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3603"^^xsd:string) AnnotationAssertion( "GARD:7038"^^xsd:string) AnnotationAssertion( "ICD10CM:Q02"^^xsd:string) AnnotationAssertion( "ICD9CM:742.1"^^xsd:string) AnnotationAssertion( "MESH:D008831"^^xsd:string) AnnotationAssertion( "NCI:C85874"^^xsd:string) AnnotationAssertion( "Congenital microcephaly"^^xsd:string) AnnotationAssertion( "Microcephalies"^^xsd:string) AnnotationAssertion( "Severe Congenital Microcephalies"^^xsd:string) AnnotationAssertion( "Severe Congenital Microcephaly"^^xsd:string) AnnotationAssertion( "microcephalus"^^xsd:string) AnnotationAssertion( "microencephaly"^^xsd:string) AnnotationAssertion( "Classical primary microcephaly"^^xsd:string) AnnotationAssertion( "PRIMARY MICROCEPHALY, RECESSIVE"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MICROCEPHALY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10907"^^xsd:string) AnnotationAssertion(rdfs:label "microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hydrocephalus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hydrocephalus"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=hydrocephalus"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956"^^xsd:string) "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236600"^^xsd:string) AnnotationAssertion( "MIM:236635"^^xsd:string) AnnotationAssertion( "CCDC88C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6682"^^xsd:string) AnnotationAssertion( "ICD10CM:G91"^^xsd:string) AnnotationAssertion( "MESH:D006849"^^xsd:string) AnnotationAssertion( "MIM:PS236600"^^xsd:string) AnnotationAssertion( "NCI:C3111"^^xsd:string) AnnotationAssertion( "NCI:C98876"^^xsd:string) AnnotationAssertion( "ORDO:2182"^^xsd:string) AnnotationAssertion( "ORDO:2185"^^xsd:string) AnnotationAssertion( "Cerebral Ventriculomegaly"^^xsd:string) AnnotationAssertion( "Congenital Hydrocephalus"^^xsd:string) AnnotationAssertion( "HYC1"^^xsd:string) AnnotationAssertion( "aqueductal stenoses"^^xsd:string) AnnotationAssertion( "aqueductal stenosis"^^xsd:string) AnnotationAssertion( "cerebral ventriculomegalies"^^xsd:string) AnnotationAssertion( "fetal cerebral ventriculomegalies"^^xsd:string) AnnotationAssertion( "fetal cerebral ventriculomegaly"^^xsd:string) AnnotationAssertion( "hydrocephalus ex vacuo"^^xsd:string) AnnotationAssertion( "hydrocephalus ex-vacuos"^^xsd:string) AnnotationAssertion( "hydrocephalus, X-linked"^^xsd:string) AnnotationAssertion( "hydrocephaly"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:236600"^^xsd:string) "nonsyndromic hydrocephalus, autosomal recessive"^^xsd:string) AnnotationAssertion( "nonsyndromic hydrocephalus, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "post traumatic hydrocephalus"^^xsd:string) AnnotationAssertion( "ventriculomegaly"^^xsd:string) AnnotationAssertion( "SEVERE HYDROCEPHALUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10908"^^xsd:string) AnnotationAssertion(rdfs:label "hydrocephalus"^^xsd:string) SubClassOf( ) # Class: (tooth disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/toothdisorders.html"^^xsd:string) "A mouth disease located_in the teeth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001216"^^xsd:string) AnnotationAssertion( "MESH:D014076"^^xsd:string) AnnotationAssertion( "teeth disease"^^xsd:string) AnnotationAssertion( "tooth diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1091"^^xsd:string) AnnotationAssertion(rdfs:label "tooth disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign essential hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:401.1"^^xsd:string) AnnotationAssertion( "NCI:C3656"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10913"^^xsd:string) AnnotationAssertion(rdfs:label "benign essential hypertension"^^xsd:string) SubClassOf( ) # Class: (amnestic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amnesia"^^xsd:string) Annotation( "http://www.minddisorders.com/A-Br/Amnestic-disorders.html"^^xsd:string) "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001454"^^xsd:string) AnnotationAssertion( "ICD10CM:R41.3"^^xsd:string) AnnotationAssertion( "ICD9CM:294.0"^^xsd:string) AnnotationAssertion( "MESH:D000647"^^xsd:string) AnnotationAssertion( "NCI:C2867"^^xsd:string) AnnotationAssertion( "Amnesia Memory Loss"^^xsd:string) AnnotationAssertion( "Amnestic State"^^xsd:string) AnnotationAssertion( "Global Amnesia"^^xsd:string) AnnotationAssertion( "Hysterical Amnesia"^^xsd:string) AnnotationAssertion( "Hysterical Amnesias"^^xsd:string) AnnotationAssertion( "Korsakoff's psychosis or syndrome"^^xsd:string) AnnotationAssertion( "Tactile Amnesia"^^xsd:string) AnnotationAssertion( "Tactile Amnesias"^^xsd:string) AnnotationAssertion( "amnesia"^^xsd:string) AnnotationAssertion( "amnesias"^^xsd:string) AnnotationAssertion( "amnestic states"^^xsd:string) AnnotationAssertion( "amnestic syndrome"^^xsd:string) AnnotationAssertion( "global amnesias"^^xsd:string) AnnotationAssertion( "temporary amnesia"^^xsd:string) AnnotationAssertion( "temporary amnesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10914"^^xsd:string) AnnotationAssertion(rdfs:label "amnestic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wernicke-Korsakoff syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome"^^xsd:string) "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277730"^^xsd:string) AnnotationAssertion( "EFO:1001242"^^xsd:string) AnnotationAssertion( "MESH:D020915"^^xsd:string) AnnotationAssertion( "NCI:C35764"^^xsd:string) AnnotationAssertion( "NCI:C84803"^^xsd:string) AnnotationAssertion( "ALCOHOL-INDUCED ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "Korsakoff Psychosis"^^xsd:string) AnnotationAssertion( "Korsakoff psychoses"^^xsd:string) AnnotationAssertion( "Korsakoff syndrome"^^xsd:string) AnnotationAssertion( "Korsakoff's psychosis"^^xsd:string) AnnotationAssertion( "Korsakoff's syndrome"^^xsd:string) AnnotationAssertion( "Korsakov psychosis"^^xsd:string) AnnotationAssertion( "Korsakov's psychosis"^^xsd:string) AnnotationAssertion( "Wernicke-Korsakoff syndromes"^^xsd:string) AnnotationAssertion( "transketolase defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10915"^^xsd:string) AnnotationAssertion(rdfs:label "Wernicke-Korsakoff syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Siberian tick typhus) AnnotationAssertion(Annotation( "http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A77.2"^^xsd:string) AnnotationAssertion( "ICD9CM:082.2"^^xsd:string) AnnotationAssertion( "North Asian tick fever"^^xsd:string) AnnotationAssertion( "North Asian tick typhus"^^xsd:string) AnnotationAssertion( "Rickettsia sibirica spotted fever"^^xsd:string) AnnotationAssertion( "manchurian typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10921"^^xsd:string) AnnotationAssertion(rdfs:label "Siberian tick typhus"^^xsd:string) SubClassOf( ) # Class: (sickle cell anemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sickle_cell_disease"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/sickle-cell-disease"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease"^^xsd:string) "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000697"^^xsd:string) AnnotationAssertion( "GARD:8614"^^xsd:string) AnnotationAssertion( "ICD10CM:D57.1"^^xsd:string) AnnotationAssertion( "ICD10CM:D57.2"^^xsd:string) AnnotationAssertion( "ICD9CM:282.6"^^xsd:string) AnnotationAssertion( "ICD9CM:282.63"^^xsd:string) AnnotationAssertion( "MESH:D000755"^^xsd:string) AnnotationAssertion( "MONDO:0011382"^^xsd:string) AnnotationAssertion( "NCI:C34383"^^xsd:string) AnnotationAssertion( "NCI:C34676"^^xsd:string) AnnotationAssertion( "ORDO:232"^^xsd:string) AnnotationAssertion( "Hb-SS disease without crisis"^^xsd:string) AnnotationAssertion( "HbS disease"^^xsd:string) AnnotationAssertion( "HbSS disease"^^xsd:string) AnnotationAssertion( "drepanocytosis"^^xsd:string) AnnotationAssertion( "haemoglobin SC disease"^^xsd:string) AnnotationAssertion( "hemoglobin S disease"^^xsd:string) AnnotationAssertion( "hemoglobin S disease without crisis"^^xsd:string) AnnotationAssertion( "hemoglobin S diseases"^^xsd:string) AnnotationAssertion( "homozygous sickle cell disease"^^xsd:string) AnnotationAssertion( "sickle cell anaemia"^^xsd:string) AnnotationAssertion( "sickle cell anemias"^^xsd:string) AnnotationAssertion( "sickle cell disease"^^xsd:string) AnnotationAssertion( "sickle cell diseases"^^xsd:string) AnnotationAssertion( "sickle cell disorder"^^xsd:string) AnnotationAssertion( "sickle cell disorders"^^xsd:string) AnnotationAssertion( "sickle-cell/Hb-C disease without crisis"^^xsd:string) AnnotationAssertion( "sickling disorder due to hemoglobin S"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN D (IRAN)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN KORLE-BU"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ROCKFORD"^^xsd:string) AnnotationAssertion( "Hemoglobin Quebec-Chori"^^xsd:string) AnnotationAssertion( "hemoglobin Chori"^^xsd:string) AnnotationAssertion( "DOID:10923"^^xsd:string) AnnotationAssertion(rdfs:label "sickle cell anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastrojejunal ulcer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K28.0"^^xsd:string) AnnotationAssertion( "ICD9CM:534.0"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with hemorrhage"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with hemorrhage AND obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with hemorrhage AND perforation"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with perforation"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with perforation AND obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer with perforation, with obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer without hemorrhage AND without perforation"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"^^xsd:string) AnnotationAssertion( "acute gastrojejunal ulcer, with hemorrhage, with obstruction"^^xsd:string) AnnotationAssertion( "chronic gastrojejunal ulcer without hemorrhage AND without perforation"^^xsd:string) AnnotationAssertion( "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction"^^xsd:string) AnnotationAssertion( "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10927"^^xsd:string) AnnotationAssertion(rdfs:label "gastrojejunal ulcer"^^xsd:string) SubClassOf( ) # Class: (borderline personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Borderline_personality_disorder"^^xsd:string) "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005429"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.3"^^xsd:string) AnnotationAssertion( "ICD9CM:301.83"^^xsd:string) AnnotationAssertion( "MESH:D001883"^^xsd:string) AnnotationAssertion( "NCI:C92633"^^xsd:string) AnnotationAssertion( "Borderline Personality Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10930"^^xsd:string) AnnotationAssertion(rdfs:label "borderline personality disorder"^^xsd:string) SubClassOf( ) # Class: (dependent personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dependent_personality_disorder"^^xsd:string) "A personality disorder that is characterized by a pervasive psychological dependence on other people. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.7"^^xsd:string) AnnotationAssertion( "ICD9CM:301.6"^^xsd:string) AnnotationAssertion( "MESH:D003859"^^xsd:string) AnnotationAssertion( "NCI:C92637"^^xsd:string) AnnotationAssertion( "dependent personality disorders"^^xsd:string) AnnotationAssertion( "passive dependent personality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10931"^^xsd:string) AnnotationAssertion(rdfs:label "dependent personality disorder"^^xsd:string) SubClassOf( ) # Class: (obsessive-compulsive personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder"^^xsd:string) "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.5"^^xsd:string) AnnotationAssertion( "ICD9CM:301.4"^^xsd:string) AnnotationAssertion( "MESH:D003193"^^xsd:string) AnnotationAssertion( "NCI:C92638"^^xsd:string) AnnotationAssertion( "Compulsive Personality"^^xsd:string) AnnotationAssertion( "Compulsive Personality Disorders"^^xsd:string) AnnotationAssertion( "OCPD"^^xsd:string) AnnotationAssertion( "Obsessive-Compulsive Personalities"^^xsd:string) AnnotationAssertion( "compulsive personalities"^^xsd:string) AnnotationAssertion( "compulsive personality disorder"^^xsd:string) AnnotationAssertion( "obsessive-compulsive personality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:191762008"^^xsd:string) "Anankastic personality disorder"^^xsd:string) AnnotationAssertion( "obsessional personality"^^xsd:string) AnnotationAssertion( "DOID:10932"^^xsd:string) AnnotationAssertion(rdfs:label "obsessive-compulsive personality disorder"^^xsd:string) SubClassOf( ) # Class: (obsessive-compulsive disorder) AnnotationAssertion(Annotation( "https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml"^^xsd:string) "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). (DO)"^^xsd:string) AnnotationAssertion( "MIM:164230"^^xsd:string) AnnotationAssertion( "EFO:0004242"^^xsd:string) AnnotationAssertion( "ICD10CM:F42"^^xsd:string) AnnotationAssertion( "ICD9CM:300.3"^^xsd:string) AnnotationAssertion( "MESH:D009771"^^xsd:string) AnnotationAssertion( "NCI:C88411"^^xsd:string) AnnotationAssertion( "OCD"^^xsd:string) AnnotationAssertion( "Obsessive-Compulsive Disorders"^^xsd:string) AnnotationAssertion( "anancastic neurosis"^^xsd:string) AnnotationAssertion( "anankastic personalities"^^xsd:string) AnnotationAssertion( "anankastic personality"^^xsd:string) AnnotationAssertion( "obsessive-compulsive neuroses"^^xsd:string) AnnotationAssertion( "obsessive-compulsive neurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "increased/decreased serotonin transporter activity"^^xsd:string) AnnotationAssertion( "obsessive-compulsive disorder, protection against"^^xsd:string) AnnotationAssertion( "obsessive-compulsive disorder, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:10933"^^xsd:string) AnnotationAssertion(rdfs:label "obsessive-compulsive disorder"^^xsd:string) SubClassOf( ) # Class: (multiple personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dissociative_identity_disorder"^^xsd:string) "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F44.81"^^xsd:string) AnnotationAssertion( "ICD9CM:300.14"^^xsd:string) AnnotationAssertion( "MESH:D009105"^^xsd:string) AnnotationAssertion( "NCI:C94330"^^xsd:string) AnnotationAssertion( "Dissociative Identity Disorder"^^xsd:string) AnnotationAssertion( "Dual Personality"^^xsd:string) AnnotationAssertion( "Multiple Identity Disorder"^^xsd:string) AnnotationAssertion( "Multiple Personalities"^^xsd:string) AnnotationAssertion( "Multiple Personality"^^xsd:string) AnnotationAssertion( "Multiple Personality Disorders"^^xsd:string) AnnotationAssertion( "dual personalities"^^xsd:string) AnnotationAssertion( "multiple identity disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10934"^^xsd:string) AnnotationAssertion(rdfs:label "multiple personality disorder"^^xsd:string) SubClassOf( ) # Class: (dissociative disorder) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215"^^xsd:string) "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F44.9"^^xsd:string) AnnotationAssertion( "ICD9CM:300.15"^^xsd:string) AnnotationAssertion( "ICD9CM:300.9"^^xsd:string) AnnotationAssertion( "MESH:D004213"^^xsd:string) AnnotationAssertion( "NCI:C92197"^^xsd:string) AnnotationAssertion( "Dissociative Hysteria"^^xsd:string) AnnotationAssertion( "Dissociative Reaction"^^xsd:string) AnnotationAssertion( "dissociation"^^xsd:string) AnnotationAssertion( "dissociative disease"^^xsd:string) AnnotationAssertion( "dissociative disorders"^^xsd:string) AnnotationAssertion( "dissociative hysterias"^^xsd:string) AnnotationAssertion( "dissociative reactions"^^xsd:string) AnnotationAssertion( "fugue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10935"^^xsd:string) AnnotationAssertion(rdfs:label "dissociative disorder"^^xsd:string) SubClassOf( ) # Class: (schizoid personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schizoid_personality_disorder"^^xsd:string) "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.1"^^xsd:string) AnnotationAssertion( "ICD9CM:301.2"^^xsd:string) AnnotationAssertion( "MESH:D012557"^^xsd:string) AnnotationAssertion( "NCI:C92631"^^xsd:string) AnnotationAssertion( "Schizoid Personality"^^xsd:string) AnnotationAssertion( "schizoid personalities"^^xsd:string) AnnotationAssertion( "schizoid personality disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10936"^^xsd:string) AnnotationAssertion(rdfs:label "schizoid personality disorder"^^xsd:string) SubClassOf( ) # Class: (impulse control disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Impulse_control_disorder"^^xsd:string) "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F63.9"^^xsd:string) AnnotationAssertion( "ICD9CM:312.30"^^xsd:string) AnnotationAssertion( "MESH:D007174"^^xsd:string) AnnotationAssertion( "MONDO:0001162"^^xsd:string) AnnotationAssertion( "NCI:C34723"^^xsd:string) AnnotationAssertion( "disruptive, impulse control, and conduct disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10937"^^xsd:string) AnnotationAssertion(rdfs:label "impulse control disorder"^^xsd:string) SubClassOf( ) # Class: (paranoid personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Paranoid_personality_disorder"^^xsd:string) "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.0"^^xsd:string) AnnotationAssertion( "ICD9CM:301.0"^^xsd:string) AnnotationAssertion( "MESH:D010260"^^xsd:string) AnnotationAssertion( "NCI:C92630"^^xsd:string) AnnotationAssertion( "paranoid personalities"^^xsd:string) AnnotationAssertion( "paranoid personality"^^xsd:string) AnnotationAssertion( "paranoid personality disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10938"^^xsd:string) AnnotationAssertion(rdfs:label "paranoid personality disorder"^^xsd:string) SubClassOf( ) # Class: (antisocial personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Antisocial_personality_disorder"^^xsd:string) "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004890"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.2"^^xsd:string) AnnotationAssertion( "ICD9CM:301.7"^^xsd:string) AnnotationAssertion( "MESH:D000987"^^xsd:string) AnnotationAssertion( "NCI:C88413"^^xsd:string) AnnotationAssertion( "Antisocial Behavior Following Childhood Maltreatment, Susceptibility To"^^xsd:string) AnnotationAssertion( "Antisocial Personalities"^^xsd:string) AnnotationAssertion( "Antisocial Personality"^^xsd:string) AnnotationAssertion( "Antisocial Personality Disorders"^^xsd:string) AnnotationAssertion( "Dyssocial Behavior"^^xsd:string) AnnotationAssertion( "Dyssocial Behaviors"^^xsd:string) AnnotationAssertion( "Psychopathic Personalities"^^xsd:string) AnnotationAssertion( "Psychopathic Personality"^^xsd:string) AnnotationAssertion( "Sociopathic Personalities"^^xsd:string) AnnotationAssertion( "Sociopathic Personality"^^xsd:string) AnnotationAssertion( "antisocial behavior"^^xsd:string) AnnotationAssertion( "asocial personality"^^xsd:string) AnnotationAssertion( "dissocial personality disorder"^^xsd:string) AnnotationAssertion( "psychopath.personality"^^xsd:string) AnnotationAssertion( "psychopathic personality disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10939"^^xsd:string) AnnotationAssertion(rdfs:label "antisocial personality disorder"^^xsd:string) SubClassOf( ) # Class: (attention deficit hyperactivity disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder"^^xsd:string) "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143465"^^xsd:string) AnnotationAssertion( "MIM:608903"^^xsd:string) AnnotationAssertion( "MIM:608904"^^xsd:string) AnnotationAssertion( "MIM:608905"^^xsd:string) AnnotationAssertion( "MIM:608906"^^xsd:string) AnnotationAssertion( "MIM:612311"^^xsd:string) AnnotationAssertion( "MIM:612312"^^xsd:string) AnnotationAssertion( "EFO:0003888"^^xsd:string) AnnotationAssertion( "MESH:D001289"^^xsd:string) AnnotationAssertion( "NCI:C35092"^^xsd:string) AnnotationAssertion( "NCI:C97160"^^xsd:string) AnnotationAssertion( "ADDH"^^xsd:string) AnnotationAssertion( "ADHD"^^xsd:string) AnnotationAssertion( "Attention Deficit Disorder with Hyperactivity"^^xsd:string) AnnotationAssertion( "Attention Deficit Disorders with Hyperactivity"^^xsd:string) AnnotationAssertion( "attention deficit disorder"^^xsd:string) AnnotationAssertion( "attention deficit disorders"^^xsd:string) AnnotationAssertion( "attention deficit hyperactivity disorders"^^xsd:string) AnnotationAssertion( "hyperactivity of childhood"^^xsd:string) AnnotationAssertion( "hyperkinetic disorder"^^xsd:string) AnnotationAssertion( "hyperkinetic syndrome"^^xsd:string) AnnotationAssertion( "minimal brain dysfunction"^^xsd:string) AnnotationAssertion( "hyperactivity disorder"^^xsd:string) AnnotationAssertion( "tryptophan 5-monooxygenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ADHD1"^^xsd:string) AnnotationAssertion( "ADHD2"^^xsd:string) AnnotationAssertion( "ADHD3"^^xsd:string) AnnotationAssertion( "ADHD4"^^xsd:string) AnnotationAssertion( "ADHD5"^^xsd:string) AnnotationAssertion( "ADHD6"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "DOID:1094"^^xsd:string) AnnotationAssertion(rdfs:label "attention deficit hyperactivity disorder"^^xsd:string) SubClassOf( ) # Class: (intracranial aneurysm) AnnotationAssertion(Annotation( "MESH:D002532"^^xsd:string) "Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"^^xsd:string) AnnotationAssertion( "EFO:0003870"^^xsd:string) AnnotationAssertion( "MESH:D002532"^^xsd:string) AnnotationAssertion( "NCI:C34458"^^xsd:string) AnnotationAssertion( "Anterior Cerebral Artery Aneurysm"^^xsd:string) AnnotationAssertion( "Anterior Communicating Artery Aneurysm"^^xsd:string) AnnotationAssertion( "Basilar Artery Aneurysm"^^xsd:string) AnnotationAssertion( "Berry Aneurysm"^^xsd:string) AnnotationAssertion( "Berry Aneurysms"^^xsd:string) AnnotationAssertion( "Brain Aneurysm"^^xsd:string) AnnotationAssertion( "Brain Aneurysms"^^xsd:string) AnnotationAssertion( "Cerebral Aneurysm"^^xsd:string) AnnotationAssertion( "Cerebral Aneurysms"^^xsd:string) AnnotationAssertion( "Giant Intracranial Aneurysm"^^xsd:string) AnnotationAssertion( "Giant Intracranial Aneurysms"^^xsd:string) AnnotationAssertion( "Intracranial Aneurysms"^^xsd:string) AnnotationAssertion( "Intracranial Mycotic Aneurysm"^^xsd:string) AnnotationAssertion( "Intracranial Mycotic Aneurysms"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Aneurysm"^^xsd:string) AnnotationAssertion( "Posterior Cerebral Artery Aneurysm"^^xsd:string) AnnotationAssertion( "basilar artery aneurysms"^^xsd:string) AnnotationAssertion( "posterior communicating artery aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10941"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial aneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tongue disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/tonguedisorders.html"^^xsd:string) "A mouth disease located_in the tongue. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K14"^^xsd:string) AnnotationAssertion( "ICD9CM:529.9"^^xsd:string) AnnotationAssertion( "MESH:D014060"^^xsd:string) AnnotationAssertion( "NCI:C173793"^^xsd:string) AnnotationAssertion( "Tongue Diseases"^^xsd:string) AnnotationAssertion( "microglossia"^^xsd:string) AnnotationAssertion( "microglossias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10944"^^xsd:string) AnnotationAssertion(rdfs:label "tongue disease"^^xsd:string) SubClassOf( ) # Class: (nephritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nephritis"^^xsd:string) "A kidney disease that is characterized by an inflammation of the kidneys. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002050"^^xsd:string) AnnotationAssertion( "ICD10CM:N05"^^xsd:string) AnnotationAssertion( "MESH:D009393"^^xsd:string) AnnotationAssertion( "NCI:C26833"^^xsd:string) AnnotationAssertion( "nephritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10952"^^xsd:string) AnnotationAssertion(rdfs:label "nephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (strongyloidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Strongyloidiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007501"^^xsd:string) AnnotationAssertion( "GARD:8195"^^xsd:string) AnnotationAssertion( "ICD10CM:B78"^^xsd:string) AnnotationAssertion( "ICD9CM:127.2"^^xsd:string) AnnotationAssertion( "MESH:D013322"^^xsd:string) AnnotationAssertion( "NCI:C128398"^^xsd:string) AnnotationAssertion( "anguilluliases"^^xsd:string) AnnotationAssertion( "anguilluliasis"^^xsd:string) AnnotationAssertion( "disseminated strongyloidiasis"^^xsd:string) AnnotationAssertion( "infection by strongyloides"^^xsd:string) AnnotationAssertion( "strongyloidiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10955"^^xsd:string) AnnotationAssertion(rdfs:label "strongyloidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cholesteatoma of attic) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000676"^^xsd:string) AnnotationAssertion( "ICD10CM:H71.0"^^xsd:string) AnnotationAssertion( "ICD9CM:385.31"^^xsd:string) AnnotationAssertion( "RDO:9003800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10963"^^xsd:string) AnnotationAssertion(rdfs:label "cholesteatoma of attic"^^xsd:string) SubClassOf( ) # Class: (cholesteatoma of middle ear) AnnotationAssertion(Annotation( "MESH:D018424"^^xsd:string) "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR."^^xsd:string) AnnotationAssertion( "EFO:1000678"^^xsd:string) AnnotationAssertion( "ICD10CM:H71"^^xsd:string) AnnotationAssertion( "ICD9CM:385.3"^^xsd:string) AnnotationAssertion( "ICD9CM:385.32"^^xsd:string) AnnotationAssertion( "MESH:D018424"^^xsd:string) AnnotationAssertion( "NCI:C3654"^^xsd:string) AnnotationAssertion( "aural cholesteatoma"^^xsd:string) AnnotationAssertion( "aural cholesteatomas"^^xsd:string) AnnotationAssertion( "cholesteatoma of middle ear and mastoid"^^xsd:string) AnnotationAssertion( "cholesteatoma of middle ear and/or mastoid"^^xsd:string) AnnotationAssertion( "cholesteatoma of the middle ear"^^xsd:string) AnnotationAssertion( "epidermosis of ear"^^xsd:string) AnnotationAssertion( "epidermosis of middle ear"^^xsd:string) AnnotationAssertion( "middle ear cholesteatoma"^^xsd:string) AnnotationAssertion( "middle ear cholesteatomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10964"^^xsd:string) AnnotationAssertion(rdfs:label "cholesteatoma of middle ear"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic diplegia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy"^^xsd:string) "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:343.0"^^xsd:string) AnnotationAssertion( "NCI:C34781"^^xsd:string) AnnotationAssertion( "Little's disease"^^xsd:string) AnnotationAssertion( "Littles disease"^^xsd:string) AnnotationAssertion( "cerebral spastic infantile paralysis"^^xsd:string) AnnotationAssertion( "infantile diplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "infantile spastic cerebral palsy"^^xsd:string) AnnotationAssertion( "spastic diplegias"^^xsd:string) AnnotationAssertion( "spastic diplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10965"^^xsd:string) AnnotationAssertion(rdfs:label "spastic diplegia"^^xsd:string) SubClassOf( ) # Class: (lipoid nephrosis) AnnotationAssertion(Annotation( "MESH:D009402"^^xsd:string) "A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA."^^xsd:string) AnnotationAssertion( "EFO:1001020"^^xsd:string) AnnotationAssertion( "MESH:D009402"^^xsd:string) AnnotationAssertion( "NCI:C34844"^^xsd:string) AnnotationAssertion( "NCI:C35540"^^xsd:string) AnnotationAssertion( "Glomerulopathies, Minimal Change"^^xsd:string) AnnotationAssertion( "Idiopathic Minimal Change Nephrotic Syndrome"^^xsd:string) AnnotationAssertion( "Lipoid Nephroses"^^xsd:string) AnnotationAssertion( "Minimal Change Disease"^^xsd:string) AnnotationAssertion( "Minimal Change Diseases"^^xsd:string) AnnotationAssertion( "Minimal Change Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Minimal Change Glomerulonephritis"^^xsd:string) AnnotationAssertion( "Minimal Change Glomerulopathy"^^xsd:string) AnnotationAssertion( "Minimal Change Nephropathies"^^xsd:string) AnnotationAssertion( "Minimal Change Nephropathy"^^xsd:string) AnnotationAssertion( "Minimal Change Nephrotic Syndrome"^^xsd:string) AnnotationAssertion( "nephrotic syndrome with lesion of minimal change glomerulonephritis"^^xsd:string) AnnotationAssertion( "nephrotic syndrome with lesion of minimal change nephrotic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10966"^^xsd:string) AnnotationAssertion(rdfs:label "lipoid nephrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic hemiplegia) AnnotationAssertion(Annotation( "https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/"^^xsd:string) "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10448"^^xsd:string) AnnotationAssertion( "ICD9CM:343.1"^^xsd:string) AnnotationAssertion( "congenital hemiplegia"^^xsd:string) AnnotationAssertion( "hemiplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "hemiplegic infantile cerebral palsy"^^xsd:string) AnnotationAssertion( "spastic hemiplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10967"^^xsd:string) AnnotationAssertion(rdfs:label "spastic hemiplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic monoplegia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic"^^xsd:string) "A spastic cerebral palsy that affects only one limb. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10446"^^xsd:string) AnnotationAssertion( "ICD9CM:343.3"^^xsd:string) AnnotationAssertion( "monoplegic cerebral palsies"^^xsd:string) AnnotationAssertion( "monoplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "monoplegic infantile cerebral palsy"^^xsd:string) AnnotationAssertion( "spastic monoplegic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10968"^^xsd:string) AnnotationAssertion(rdfs:label "spastic monoplegia"^^xsd:string) SubClassOf( ) # Class: (hemiplegia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemiparesis"^^xsd:string) "A central nervous system disease that is characterized by the complete paralysis of half of the body. (DO)"^^xsd:string) AnnotationAssertion( "HEMIPLEGIA/HEMIPARESIS"^^xsd:string) AnnotationAssertion( "EFO:0009453"^^xsd:string) AnnotationAssertion( "GARD:6583"^^xsd:string) AnnotationAssertion( "ICD9CM:343.4"^^xsd:string) AnnotationAssertion( "MESH:D006429"^^xsd:string) AnnotationAssertion( "Flaccid Hemiplegia"^^xsd:string) AnnotationAssertion( "Hemiplegias"^^xsd:string) AnnotationAssertion( "Infantile Hemiplegia"^^xsd:string) AnnotationAssertion( "Infantile Hemiplegias"^^xsd:string) AnnotationAssertion( "Monoplegia"^^xsd:string) AnnotationAssertion( "Monoplegias"^^xsd:string) AnnotationAssertion( "Post-Ictal Hemiplegia"^^xsd:string) AnnotationAssertion( "crossed hemiplegia"^^xsd:string) AnnotationAssertion( "crossed hemiplegias"^^xsd:string) AnnotationAssertion( "flaccid hemiplegias"^^xsd:string) AnnotationAssertion( "post-ictal hemiplegias"^^xsd:string) AnnotationAssertion( "postnatal infantile hemiplegia"^^xsd:string) AnnotationAssertion( "transient hemiplegia"^^xsd:string) AnnotationAssertion( "transient hemiplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10969"^^xsd:string) AnnotationAssertion(rdfs:label "hemiplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spastic quadriplegic cerebral palsy) AnnotationAssertion(Annotation( "https://cerebralpalsygroup.com/cerebral-palsy/spastic/"^^xsd:string) "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10447"^^xsd:string) AnnotationAssertion( "ICD9CM:343.2"^^xsd:string) AnnotationAssertion( "MIM:PS612900"^^xsd:string) AnnotationAssertion( "ORDO:210141"^^xsd:string) AnnotationAssertion( "inherited congenital spastic quadriplegia"^^xsd:string) AnnotationAssertion( "inherited congenital spastic tetraplegia"^^xsd:string) AnnotationAssertion( "quadriplegic infantile cerebral palsy"^^xsd:string) AnnotationAssertion( "spastic quadriplegia"^^xsd:string) AnnotationAssertion( "tetraplegic infantile cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10970"^^xsd:string) AnnotationAssertion(rdfs:label "spastic quadriplegic cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (acute salpingo-oophoritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.03"^^xsd:string) AnnotationAssertion( "ICD9CM:614.0"^^xsd:string) AnnotationAssertion( "acute salpingitis and oophoritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10971"^^xsd:string) AnnotationAssertion(rdfs:label "acute salpingo-oophoritis"^^xsd:string) SubClassOf( ) # Class: (salpingo-oophoritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N70"^^xsd:string) AnnotationAssertion( "ICD9CM:614.2"^^xsd:string) AnnotationAssertion( "NCI:C171201"^^xsd:string) AnnotationAssertion( "salpingitis/oophoritis"^^xsd:string) AnnotationAssertion( "tubo-ovarian inflammatory disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10972"^^xsd:string) AnnotationAssertion(rdfs:label "salpingo-oophoritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute salpingitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.01"^^xsd:string) AnnotationAssertion( "MONDO:0001173"^^xsd:string) AnnotationAssertion( "NCI:C40120"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10973"^^xsd:string) AnnotationAssertion(rdfs:label "acute salpingitis"^^xsd:string) SubClassOf( ) # Class: (oophoritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oophoritis"^^xsd:string) "An ovarian disease that is characterized by inflammation of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001071"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.92"^^xsd:string) AnnotationAssertion( "MESH:D009869"^^xsd:string) AnnotationAssertion( "oophoritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10974"^^xsd:string) AnnotationAssertion(rdfs:label "oophoritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (membranous glomerulonephritis) AnnotationAssertion(Annotation( "MESH:D015433"^^xsd:string) "A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane."^^xsd:string) AnnotationAssertion( "MIM:614692"^^xsd:string) AnnotationAssertion( "EFO:0004254"^^xsd:string) AnnotationAssertion( "ICD10CM:N03.2"^^xsd:string) AnnotationAssertion( "MESH:D015433"^^xsd:string) AnnotationAssertion( "NCI:C34645"^^xsd:string) AnnotationAssertion( "CONGENITAL MEMBRANOUS NEPHROPATHY DUE TO FETOMATERNAL ANTI-NEUTRAL ENDOPEPTIDASE ALLOIMMUNIZATION"^^xsd:string) AnnotationAssertion( "Extramembranous Glomerulopathy"^^xsd:string) AnnotationAssertion( "Heymann Nephritis"^^xsd:string) AnnotationAssertion( "Idiopathic Membranous Glomerulonephritis"^^xsd:string) AnnotationAssertion( "Idiopathic Membranous Nephropathy"^^xsd:string) AnnotationAssertion( "MBNP"^^xsd:string) AnnotationAssertion( "Membranous Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Membranous Glomerulonephropathy"^^xsd:string) AnnotationAssertion( "idiopathic membranous glomerulonephritides"^^xsd:string) AnnotationAssertion( "membranous glomerulopathy"^^xsd:string) AnnotationAssertion( "membranous nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "membranous nephropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:10976"^^xsd:string) AnnotationAssertion(rdfs:label "membranous glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemolytic disease of the fetus) AnnotationAssertion(Annotation( "MESH:D004899"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK557423/"^^xsd:string) "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000937"^^xsd:string) AnnotationAssertion( "ICD10CM:P55"^^xsd:string) AnnotationAssertion( "ICD10CM:P55.9"^^xsd:string) AnnotationAssertion( "ICD9CM:773"^^xsd:string) AnnotationAssertion( "MESH:D004899"^^xsd:string) AnnotationAssertion( "MONDO:0006760"^^xsd:string) AnnotationAssertion( "NCI:C101304"^^xsd:string) AnnotationAssertion( "EF - erythroblastosis foetalis"^^xsd:string) AnnotationAssertion( "Erythroblastosis Fetali"^^xsd:string) AnnotationAssertion( "Erythroblastosis Fetalis"^^xsd:string) AnnotationAssertion( "Hemolytic disease of the fetus and newborn"^^xsd:string) AnnotationAssertion( "alloimmune HDFN"^^xsd:string) AnnotationAssertion( "fetal erythroblastosis"^^xsd:string) AnnotationAssertion( "haemolytic disease due to rhesus isoimmunisation"^^xsd:string) AnnotationAssertion( "hemolytic disease of newborn"^^xsd:string) AnnotationAssertion( "newborn hemolytic disease"^^xsd:string) AnnotationAssertion( "newborn hemolytic diseases"^^xsd:string) AnnotationAssertion( "rhesus isoimmunisation of the newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BLOOD GROUP--KIDD SYSTEM"^^xsd:string) AnnotationAssertion( "RADIN BLOOD GROUP"^^xsd:string) AnnotationAssertion( "DOID:1098"^^xsd:string) AnnotationAssertion(rdfs:label "hemolytic disease of the fetus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alport syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alport_syndrome"^^xsd:string) "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "hereditary nephritis"^^xsd:string) AnnotationAssertion( "EFO:0004128"^^xsd:string) AnnotationAssertion( "GARD:5785"^^xsd:string) AnnotationAssertion( "MESH:D009394"^^xsd:string) AnnotationAssertion( "MIM:PS301050"^^xsd:string) AnnotationAssertion( "NCI:C34842"^^xsd:string) AnnotationAssertion( "ORDO:63"^^xsd:string) AnnotationAssertion( "Alport's syndrome"^^xsd:string) AnnotationAssertion( "DISEASE OF GLOMERULAR BASEMENT MEMBRANE"^^xsd:string) AnnotationAssertion( "Hematuric Hereditary Nephritis"^^xsd:string) AnnotationAssertion( "Hemorrhagic Familial Nephritis"^^xsd:string) AnnotationAssertion( "congenital hereditary hematuria"^^xsd:string) AnnotationAssertion( "familial nephritis"^^xsd:string) AnnotationAssertion( "hematuria nephropathy deafness syndrome"^^xsd:string) AnnotationAssertion( "hemorrhagic hereditary nephritis"^^xsd:string) AnnotationAssertion( "hereditary familial congenital hemorrhagic nephritis"^^xsd:string) AnnotationAssertion( "hereditary hematuria syndrome"^^xsd:string) AnnotationAssertion( "hereditary interstitial pyelonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10983"^^xsd:string) AnnotationAssertion(rdfs:label "Alport syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (discitis) AnnotationAssertion(Annotation( "MESH:D015299"^^xsd:string) "Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others."^^xsd:string) AnnotationAssertion( "EFO:1000900"^^xsd:string) AnnotationAssertion( "ICD10CM:M46.4"^^xsd:string) AnnotationAssertion( "MESH:D015299"^^xsd:string) AnnotationAssertion( "RDO:0006858"^^xsd:string) AnnotationAssertion( "Discitides"^^xsd:string) AnnotationAssertion( "Diskitides"^^xsd:string) AnnotationAssertion( "Diskitis"^^xsd:string) AnnotationAssertion( "Spondylodiscitides"^^xsd:string) AnnotationAssertion( "Spondylodiscitis"^^xsd:string) AnnotationAssertion( "Spondylodiskitides"^^xsd:string) AnnotationAssertion( "Spondylodiskitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10986"^^xsd:string) AnnotationAssertion(rdfs:label "discitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctival vascular disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.41"^^xsd:string) AnnotationAssertion( "ICD9CM:372.74"^^xsd:string) AnnotationAssertion( "NCI:C35116"^^xsd:string) AnnotationAssertion( "RDO:9003824"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193900004"^^xsd:string) "Conjunctival vascular abnormality"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:372.74"^^xsd:string) "vascular abnormalities of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10989"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival vascular disease"^^xsd:string) SubClassOf( ) # Class: (alpha thalassemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alpha_Thalassemia"^^xsd:string) "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604131"^^xsd:string) AnnotationAssertion( "GARD:621"^^xsd:string) AnnotationAssertion( "ICD9CM:282.43"^^xsd:string) AnnotationAssertion( "MESH:D017085"^^xsd:string) AnnotationAssertion( "NCI:C34368"^^xsd:string) AnnotationAssertion( "A-Thalassemia"^^xsd:string) AnnotationAssertion( "alpha thalassaemia"^^xsd:string) AnnotationAssertion( "alpha-Thalassemias"^^xsd:string) AnnotationAssertion( "alpha-thalassemia and related diseases"^^xsd:string) AnnotationAssertion( "ALPHA-THALASSEMIA, HMONG TYPE"^^xsd:string) AnnotationAssertion( "ALPHA-THALASSEMIA, ZF TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN CHAROLLES"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN KOYA DORA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MANUKAU"^^xsd:string) AnnotationAssertion( "Hemoglobin Constant Spring"^^xsd:string) AnnotationAssertion( "Hemoglobin New York"^^xsd:string) AnnotationAssertion( "hemoglobin Petah Tikva"^^xsd:string) AnnotationAssertion( "hemoglobin Prato"^^xsd:string) AnnotationAssertion( "hemoglobin Quong Sze"^^xsd:string) AnnotationAssertion( "DOID:1099"^^xsd:string) AnnotationAssertion(rdfs:label "alpha thalassemia"^^xsd:string) SubClassOf( ) # Class: (basal ganglia cerebrovascular disease) AnnotationAssertion(Annotation( "MESH:D020144"^^xsd:string) "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)."^^xsd:string) AnnotationAssertion( "EFO:1000640"^^xsd:string) AnnotationAssertion( "MESH:D020144"^^xsd:string) AnnotationAssertion( "Basal Ganglia Vascular Disease"^^xsd:string) AnnotationAssertion( "Lenticulostriate Vascular Disease"^^xsd:string) AnnotationAssertion( "Lenticulostriate Vascular Diseases"^^xsd:string) AnnotationAssertion( "Lenticulostriate Vasculopathies"^^xsd:string) AnnotationAssertion( "Lenticulostriate Vasculopathy"^^xsd:string) AnnotationAssertion( "basal ganglia vascular diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10991"^^xsd:string) AnnotationAssertion(rdfs:label "basal ganglia cerebrovascular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute hemorrhagic leukoencephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1"^^xsd:string) "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606752"^^xsd:string) AnnotationAssertion( "RDO:0005478"^^xsd:string) AnnotationAssertion( "EFO:0007132"^^xsd:string) AnnotationAssertion( "GARD:8629"^^xsd:string) AnnotationAssertion( "MESH:D004684"^^xsd:string) AnnotationAssertion( "NCI:C84535"^^xsd:string) AnnotationAssertion(Annotation( "OMIM:606752"^^xsd:string) "AHL"^^xsd:string) AnnotationAssertion( "Acute Hemorrhagic Leukoencephalitides"^^xsd:string) AnnotationAssertion( "Encephalomyelitis, Acute Necrotizing Hemorrhagic"^^xsd:string) AnnotationAssertion( "Hemorrhagic Necrotizing Encephalomyelitis"^^xsd:string) AnnotationAssertion( "Hurst Disease"^^xsd:string) AnnotationAssertion( "Hurst Syndrome"^^xsd:string) AnnotationAssertion( "Hurst's Disease"^^xsd:string) AnnotationAssertion( "Hursts Disease"^^xsd:string) AnnotationAssertion( "Leukoencephalitis Acuta Hemorrhagica"^^xsd:string) AnnotationAssertion( "Necrotizing Hemorrhagic Encephalomyelitides"^^xsd:string) AnnotationAssertion( "Weston-Hurst syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:72986009"^^xsd:string) "acute haemorrhagic leucoencephalitis of Weston Hurst"^^xsd:string) AnnotationAssertion( "acute hemorrhagic encephalomyelitides"^^xsd:string) AnnotationAssertion( "acute hemorrhagic encephalomyelitis"^^xsd:string) AnnotationAssertion( "acute necrotizing hemorrhagic leukoencephalitis"^^xsd:string) AnnotationAssertion( "subacute hemorrhagic leukoencephalitides"^^xsd:string) AnnotationAssertion( "subacute hemorrhagic leukoencephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10992"^^xsd:string) AnnotationAssertion(rdfs:label "acute hemorrhagic leukoencephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (postinfectious encephalitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136"^^xsd:string) "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "postinfective encephalitis"^^xsd:string) AnnotationAssertion( "secondary encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10993"^^xsd:string) AnnotationAssertion(rdfs:label "postinfectious encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immature cataract) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cataract"^^xsd:string) "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H25.09"^^xsd:string) AnnotationAssertion( "RDO:9004348"^^xsd:string) AnnotationAssertion( "incipient cataract"^^xsd:string) AnnotationAssertion( "incipient senile cataract"^^xsd:string) AnnotationAssertion( "water clefts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:10997"^^xsd:string) AnnotationAssertion(rdfs:label "immature cataract"^^xsd:string) SubClassOf( ) # Class: (lens disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Lens_(anatomy)"^^xsd:string) "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009674"^^xsd:string) AnnotationAssertion( "ICD10CM:H27.9"^^xsd:string) AnnotationAssertion( "MESH:D007905"^^xsd:string) AnnotationAssertion( "NCI:C26812"^^xsd:string) AnnotationAssertion( "lens diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:110"^^xsd:string) AnnotationAssertion(rdfs:label "lens disease"^^xsd:string) SubClassOf( ) # Class: (ovarian disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/ovariandisorders.html"^^xsd:string) "A female reproductive system disease that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005771"^^xsd:string) AnnotationAssertion( "MESH:D010049"^^xsd:string) AnnotationAssertion( "NCI:C26841"^^xsd:string) AnnotationAssertion( "ovarian diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1100"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anorectal stricture) AnnotationAssertion( "ICD10CM:K62.4"^^xsd:string) AnnotationAssertion( "stenosis of rectum and anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11014"^^xsd:string) AnnotationAssertion(rdfs:label "anorectal stricture"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pseudopterygium) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:372.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11028"^^xsd:string) AnnotationAssertion(rdfs:label "pseudopterygium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pinguecula) AnnotationAssertion(Annotation( "MESH:D059407"^^xsd:string) "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS."^^xsd:string) AnnotationAssertion( "EFO:1001824"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.15"^^xsd:string) AnnotationAssertion( "ICD9CM:372.51"^^xsd:string) AnnotationAssertion( "MESH:D059407"^^xsd:string) AnnotationAssertion( "NCI:C129468"^^xsd:string) AnnotationAssertion( "Pingueculas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11029"^^xsd:string) AnnotationAssertion(rdfs:label "pinguecula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal edema) AnnotationAssertion(Annotation( "MESH:D015715"^^xsd:string) "An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity."^^xsd:string) AnnotationAssertion( "EFO:1000879"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.20"^^xsd:string) AnnotationAssertion( "ICD9CM:371.2"^^xsd:string) AnnotationAssertion( "MESH:D015715"^^xsd:string) AnnotationAssertion( "NCI:C50508"^^xsd:string) AnnotationAssertion( "corneal edemas"^^xsd:string) AnnotationAssertion( "corneal oedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11030"^^xsd:string) AnnotationAssertion(rdfs:label "corneal edema"^^xsd:string) SubClassOf( ) # Class: (bullous keratopathy) AnnotationAssertion( "A blister-like swelling of the cornea."^^xsd:string) AnnotationAssertion( "ICD10CM:H18.1"^^xsd:string) AnnotationAssertion( "ICD9CM:371.23"^^xsd:string) AnnotationAssertion( "NCI:C26970"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11031"^^xsd:string) AnnotationAssertion(rdfs:label "bullous keratopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secondary corneal edema) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.23"^^xsd:string) AnnotationAssertion( "ICD9CM:371.22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11032"^^xsd:string) AnnotationAssertion(rdfs:label "secondary corneal edema"^^xsd:string) SubClassOf( ) # Class: (idiopathic corneal edema) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.22"^^xsd:string) AnnotationAssertion( "ICD9CM:371.21"^^xsd:string) AnnotationAssertion( "RDO:9004443"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11033"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic corneal edema"^^xsd:string) SubClassOf( ) # Class: (contact lens corneal edema) AnnotationAssertion( "Corneal edema due to wearing of contact lenses. (ICD-9)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:371.24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11034"^^xsd:string) AnnotationAssertion(rdfs:label "contact lens corneal edema"^^xsd:string) SubClassOf( ) # Class: (chronic rapidly progressive glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:582.4"^^xsd:string) AnnotationAssertion( "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11036"^^xsd:string) AnnotationAssertion(rdfs:label "chronic rapidly progressive glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (dissociative amnesia) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia"^^xsd:string) "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F44.0"^^xsd:string) AnnotationAssertion( "ICD9CM:300.12"^^xsd:string) AnnotationAssertion( "NCI:C94328"^^xsd:string) AnnotationAssertion( "dissociative amnesias"^^xsd:string) AnnotationAssertion( "psychogenic amnesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11037"^^xsd:string) AnnotationAssertion(rdfs:label "dissociative amnesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (depersonalization disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Depersonalization_disorder"^^xsd:string) "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6260"^^xsd:string) AnnotationAssertion( "ICD9CM:300.6"^^xsd:string) AnnotationAssertion( "NCI:C94331"^^xsd:string) AnnotationAssertion( "RDO:9004219"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:300.6"^^xsd:string) "Neurotic derealization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11038"^^xsd:string) AnnotationAssertion(rdfs:label "depersonalization disorder"^^xsd:string) SubClassOf( ) # Class: (Felty's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Felty%27s_syndrome"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm"^^xsd:string) "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:134750"^^xsd:string) AnnotationAssertion( "EFO:0007269"^^xsd:string) AnnotationAssertion( "GARD:8234"^^xsd:string) AnnotationAssertion( "ICD10CM:M05.0"^^xsd:string) AnnotationAssertion( "ICD9CM:714.1"^^xsd:string) AnnotationAssertion( "MESH:D005258"^^xsd:string) AnnotationAssertion( "NCI:C84712"^^xsd:string) AnnotationAssertion( "Familial Felty Syndrome"^^xsd:string) AnnotationAssertion( "Familial Feltys Syndrome"^^xsd:string) AnnotationAssertion( "Felty syndrome"^^xsd:string) AnnotationAssertion( "Feltys Syndrome"^^xsd:string) AnnotationAssertion( "familial Felty's syndrome"^^xsd:string) AnnotationAssertion( "rheumatoid arthritis with splenoadenomegaly and leukopenia"^^xsd:string) AnnotationAssertion( "rheumatoid arthritis, splenomegaly and neutropenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11042"^^xsd:string) AnnotationAssertion(rdfs:label "Felty's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastroschisis) AnnotationAssertion(Annotation( "MESH:D020139"^^xsd:string) "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM."^^xsd:string) AnnotationAssertion( "MIM:230750"^^xsd:string) AnnotationAssertion( "EFO:1000949"^^xsd:string) AnnotationAssertion( "GARD:8661"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.3"^^xsd:string) AnnotationAssertion( "ICD9CM:756.73"^^xsd:string) AnnotationAssertion( "MESH:D020139"^^xsd:string) AnnotationAssertion( "NCI:C84725"^^xsd:string) AnnotationAssertion( "congenital fissure of the abdominal cavity"^^xsd:string) AnnotationAssertion( "gastroschises"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11044"^^xsd:string) AnnotationAssertion(rdfs:label "gastroschisis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (meconium aspiration syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27206687/"^^xsd:string) "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001037"^^xsd:string) AnnotationAssertion( "GARD:10494"^^xsd:string) AnnotationAssertion( "ICD10CM:P24.0"^^xsd:string) AnnotationAssertion( "ICD10CM:P24.00"^^xsd:string) AnnotationAssertion( "ICD10CM:P24.01"^^xsd:string) AnnotationAssertion( "MESH:D008471"^^xsd:string) AnnotationAssertion( "NCI:C87093"^^xsd:string) AnnotationAssertion( "meconium aspiration"^^xsd:string) AnnotationAssertion( "meconium inhalation"^^xsd:string) AnnotationAssertion( "neonatal aspiration of meconium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11049"^^xsd:string) AnnotationAssertion(rdfs:label "meconium aspiration syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urinary bladder cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bladder_cancer"^^xsd:string) "An urinary system cancer that results_in malignant growth located_in the urinary bladder. (DO)"^^xsd:string) AnnotationAssertion( "MIM:109800"^^xsd:string) AnnotationAssertion( "GARD:12210"^^xsd:string) AnnotationAssertion( "ICD10CM:C67"^^xsd:string) AnnotationAssertion( "ICD9CM:188"^^xsd:string) AnnotationAssertion( "MESH:D001749"^^xsd:string) AnnotationAssertion( "MONDO:0001187"^^xsd:string) AnnotationAssertion( "NCI:C2901"^^xsd:string) AnnotationAssertion( "NCI:C9334"^^xsd:string) AnnotationAssertion( "bladder cancer"^^xsd:string) AnnotationAssertion( "bladder cancers"^^xsd:string) AnnotationAssertion( "cancer of bladder"^^xsd:string) AnnotationAssertion( "cancer of the bladder"^^xsd:string) AnnotationAssertion( "malignant tumor of urinary bladder"^^xsd:string) AnnotationAssertion( "tumor of the bladder"^^xsd:string) AnnotationAssertion( "BLADDER CANCER, TRANSITIONAL CELL, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11054"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pasteurellosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pasteurellosis"^^xsd:string) "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007424"^^xsd:string) AnnotationAssertion( "ICD10CM:A28.0"^^xsd:string) AnnotationAssertion( "ICD9CM:027.2"^^xsd:string) AnnotationAssertion( "MESH:D010326"^^xsd:string) AnnotationAssertion( "pasteurella infection"^^xsd:string) AnnotationAssertion( "pasteurella infections"^^xsd:string) AnnotationAssertion( "pasteurella infectious disease"^^xsd:string) AnnotationAssertion( "pasteurelloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11055"^^xsd:string) AnnotationAssertion(rdfs:label "pasteurellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5687"^^xsd:string) AnnotationAssertion( "lymphoma of esophagus"^^xsd:string) AnnotationAssertion( "lymphoma of oesophagus"^^xsd:string) AnnotationAssertion( "oesophagus lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1106"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (placenta praevia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Placenta_previa"^^xsd:string) "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007442"^^xsd:string) AnnotationAssertion( "ICD10CM:O44"^^xsd:string) AnnotationAssertion( "MESH:D010923"^^xsd:string) AnnotationAssertion( "NCI:C26858"^^xsd:string) AnnotationAssertion( "placenta previa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11060"^^xsd:string) AnnotationAssertion(rdfs:label "placenta praevia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophageal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Esophageal_cancer"^^xsd:string) "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002916"^^xsd:string) AnnotationAssertion( "NCI:C3513"^^xsd:string) AnnotationAssertion( "ORDO:70482"^^xsd:string) AnnotationAssertion( "cancer of esophagus"^^xsd:string) AnnotationAssertion( "cancer of oesophagus"^^xsd:string) AnnotationAssertion( "carcinoma of esophagus"^^xsd:string) AnnotationAssertion( "carcinoma of oesophagus"^^xsd:string) AnnotationAssertion( "esophageal carcinoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1107"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brucella suis brucellosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm"^^xsd:string) "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11076"^^xsd:string) AnnotationAssertion(rdfs:label "Brucella suis brucellosis"^^xsd:string) SubClassOf( ) # Class: (brucellosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string) "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007185"^^xsd:string) AnnotationAssertion( "GARD:5966"^^xsd:string) AnnotationAssertion( "ICD10CM:A23"^^xsd:string) AnnotationAssertion( "ICD9CM:023"^^xsd:string) AnnotationAssertion( "MESH:D002006"^^xsd:string) AnnotationAssertion( "NCI:C84602"^^xsd:string) AnnotationAssertion( "Cyprus fever"^^xsd:string) AnnotationAssertion( "Cyprus fevers"^^xsd:string) AnnotationAssertion( "Malta fever"^^xsd:string) AnnotationAssertion( "Maltese fever"^^xsd:string) AnnotationAssertion( "brucelloses"^^xsd:string) AnnotationAssertion( "pulmonary brucelloses"^^xsd:string) AnnotationAssertion( "pulmonary brucellosis"^^xsd:string) AnnotationAssertion( "rock fever"^^xsd:string) AnnotationAssertion( "rock fevers"^^xsd:string) AnnotationAssertion( "undulant fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Gibraltar fever"^^xsd:string) AnnotationAssertion( "Mediterranean fever"^^xsd:string) AnnotationAssertion( "DOID:11077"^^xsd:string) AnnotationAssertion(rdfs:label "brucellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leech infestation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leech"^^xsd:string) Annotation( "http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057"^^xsd:string) "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B88.3"^^xsd:string) AnnotationAssertion( "ICD9CM:134.2"^^xsd:string) AnnotationAssertion( "hirudiniasis"^^xsd:string) AnnotationAssertion( "leeches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11079"^^xsd:string) AnnotationAssertion(rdfs:label "leech infestation"^^xsd:string) SubClassOf( ) # Class: (esophagus melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001192"^^xsd:string) AnnotationAssertion( "NCI:C5707"^^xsd:string) AnnotationAssertion( "esophageal melanoma"^^xsd:string) AnnotationAssertion( "melanoma of esophagus"^^xsd:string) AnnotationAssertion( "melanoma of oesophagus"^^xsd:string) AnnotationAssertion( "oesophagus melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1108"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string) "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007389"^^xsd:string) AnnotationAssertion( "ICD10CM:B87"^^xsd:string) AnnotationAssertion( "ICD9CM:134.0"^^xsd:string) AnnotationAssertion( "MESH:D009198"^^xsd:string) AnnotationAssertion( "NCI:C128400"^^xsd:string) AnnotationAssertion( "Maggot Infestation"^^xsd:string) AnnotationAssertion( "Maggot Infestations"^^xsd:string) AnnotationAssertion( "Myiases"^^xsd:string) AnnotationAssertion( "infestation by fly larvae"^^xsd:string) AnnotationAssertion( "infestation by maggots"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11080"^^xsd:string) AnnotationAssertion(rdfs:label "myiasis"^^xsd:string) SubClassOf( ) # Class: (chorioretinal scar) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.0"^^xsd:string) AnnotationAssertion( "ICD9CM:363.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11086"^^xsd:string) AnnotationAssertion(rdfs:label "chorioretinal scar"^^xsd:string) SubClassOf( ) # Class: (asphyxia neonatorum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Perinatal_asphyxia"^^xsd:string) "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000824"^^xsd:string) AnnotationAssertion( "GARD:5857"^^xsd:string) AnnotationAssertion( "ICD10CM:P84"^^xsd:string) AnnotationAssertion( "ICD9CM:768.9"^^xsd:string) AnnotationAssertion( "MESH:D001238"^^xsd:string) AnnotationAssertion( "asphyxia in liveborn infant"^^xsd:string) AnnotationAssertion( "birth asphyxia"^^xsd:string) AnnotationAssertion( "postnatal asphyxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11088"^^xsd:string) AnnotationAssertion(rdfs:label "asphyxia neonatorum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Q fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Q_fever"^^xsd:string) Annotation( "http://www.cdc.gov/qfever/symptoms/index.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15021054"^^xsd:string) "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005224"^^xsd:string) AnnotationAssertion( "GARD:7515"^^xsd:string) AnnotationAssertion( "ICD10CM:A78"^^xsd:string) AnnotationAssertion( "ICD9CM:083.0"^^xsd:string) AnnotationAssertion( "MESH:D011778"^^xsd:string) AnnotationAssertion( "NCI:C34970"^^xsd:string) AnnotationAssertion( "Acute Q Fever"^^xsd:string) AnnotationAssertion( "Acute Q Fevers"^^xsd:string) AnnotationAssertion( "Chronic Q Fever"^^xsd:string) AnnotationAssertion( "Chronic Q Fevers"^^xsd:string) AnnotationAssertion( "Coxiella burnetii Fever"^^xsd:string) AnnotationAssertion( "Coxiella burnetii Fevers"^^xsd:string) AnnotationAssertion( "Coxiella burnetii Infection"^^xsd:string) AnnotationAssertion( "Coxiella burnetii Infections"^^xsd:string) AnnotationAssertion( "Coxiella burnetii Vector Borne Disease"^^xsd:string) AnnotationAssertion( "Q Fevers"^^xsd:string) AnnotationAssertion( "Query Fever"^^xsd:string) AnnotationAssertion( "Query Fevers"^^xsd:string) AnnotationAssertion( "infection due to Coxiella burnetii"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11100"^^xsd:string) AnnotationAssertion(rdfs:label "Q fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trench fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trench_fever"^^xsd:string) "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007519"^^xsd:string) AnnotationAssertion( "ICD10CM:A79.0"^^xsd:string) AnnotationAssertion( "ICD9CM:083.1"^^xsd:string) AnnotationAssertion( "MESH:D014205"^^xsd:string) AnnotationAssertion( "His-Werner disease"^^xsd:string) AnnotationAssertion( "Quintan fever"^^xsd:string) AnnotationAssertion( "Wolhynian fever"^^xsd:string) AnnotationAssertion( "shin bone fever"^^xsd:string) AnnotationAssertion( "tibialgic fever"^^xsd:string) AnnotationAssertion( "trench fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11101"^^xsd:string) AnnotationAssertion(rdfs:label "trench fever"^^xsd:string) SubClassOf( ) # Class: (bartonellosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bartonellosis"^^xsd:string) "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007166"^^xsd:string) AnnotationAssertion( "ICD10CM:A44"^^xsd:string) AnnotationAssertion( "ICD9CM:088.0"^^xsd:string) AnnotationAssertion( "MESH:D001474"^^xsd:string) AnnotationAssertion( "NCI:C84586"^^xsd:string) AnnotationAssertion( "Bartonella Infection"^^xsd:string) AnnotationAssertion( "Bartonella infections"^^xsd:string) AnnotationAssertion( "Bartonella infectious disease"^^xsd:string) AnnotationAssertion( "Rochalimaea infection"^^xsd:string) AnnotationAssertion( "Rochalimaea infections"^^xsd:string) AnnotationAssertion( "bartonelliasis"^^xsd:string) AnnotationAssertion( "bartonelloses"^^xsd:string) AnnotationAssertion( "verruga peruana"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11102"^^xsd:string) AnnotationAssertion(rdfs:label "bartonellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rickettsialpox) AnnotationAssertion(Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A79.1"^^xsd:string) AnnotationAssertion( "ICD9CM:083.2"^^xsd:string) AnnotationAssertion( "Rickettsia akari spotted fever"^^xsd:string) AnnotationAssertion( "Vesicular rickettsiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11103"^^xsd:string) AnnotationAssertion(rdfs:label "rickettsialpox"^^xsd:string) SubClassOf( ) # Class: (spotted fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002047"^^xsd:string) AnnotationAssertion( "GARD:4998"^^xsd:string) AnnotationAssertion( "ICD10CM:A77.9"^^xsd:string) AnnotationAssertion( "ICD9CM:082.0"^^xsd:string) AnnotationAssertion( "spotted fever group rickettsial disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11104"^^xsd:string) AnnotationAssertion(rdfs:label "spotted fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fundus albipunctatus) AnnotationAssertion(Annotation( "http://www.omim.org/entry/136880"^^xsd:string) "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)"^^xsd:string) AnnotationAssertion( "MIM:136880"^^xsd:string) AnnotationAssertion( "MESH:C562733"^^xsd:string) AnnotationAssertion( "pigmentary retinal dystrophy"^^xsd:string) AnnotationAssertion( "FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "RETINITIS PUNCTATA ALBESCENS"^^xsd:string) AnnotationAssertion( "RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11105"^^xsd:string) AnnotationAssertion(rdfs:label "fundus albipunctatus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hydronephrosis) AnnotationAssertion(Annotation( "MESH:D006869"^^xsd:string) "Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER."^^xsd:string) AnnotationAssertion( "EFO:0005562"^^xsd:string) AnnotationAssertion( "ICD10CM:N13.30"^^xsd:string) AnnotationAssertion( "ICD9CM:591"^^xsd:string) AnnotationAssertion( "MESH:D006869"^^xsd:string) AnnotationAssertion( "NCI:C26796"^^xsd:string) AnnotationAssertion( "Hydronephroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11111"^^xsd:string) AnnotationAssertion(rdfs:label "hydronephrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gilles de la Tourette syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Tourette%27s_disorder"^^xsd:string) "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137580"^^xsd:string) AnnotationAssertion( "EFO:0004895"^^xsd:string) AnnotationAssertion( "GARD:7783"^^xsd:string) AnnotationAssertion( "ICD10CM:F95.2"^^xsd:string) AnnotationAssertion( "ICD9CM:307.23"^^xsd:string) AnnotationAssertion( "MESH:D005879"^^xsd:string) AnnotationAssertion( "NCI:C35078"^^xsd:string) AnnotationAssertion( "GTS"^^xsd:string) AnnotationAssertion( "Gilles De La Tourette's Syndrome"^^xsd:string) AnnotationAssertion( "Gilles de la Tourette's Disease"^^xsd:string) AnnotationAssertion( "Guinon's disease"^^xsd:string) AnnotationAssertion( "TS"^^xsd:string) AnnotationAssertion( "Tourette Disease"^^xsd:string) AnnotationAssertion( "Tourette Disorder"^^xsd:string) AnnotationAssertion( "Tourette syndrome"^^xsd:string) AnnotationAssertion( "Tourette's Disease"^^xsd:string) AnnotationAssertion( "Tourette's Disorder"^^xsd:string) AnnotationAssertion( "Tourette's syndrome"^^xsd:string) AnnotationAssertion( "Tourettes Disease"^^xsd:string) AnnotationAssertion( "Tourettes Disorder"^^xsd:string) AnnotationAssertion( "Tourettes syndrome"^^xsd:string) AnnotationAssertion( "chronic motor and vocal tic disorder"^^xsd:string) AnnotationAssertion( "combined multiple motor and vocal tic disorder"^^xsd:string) AnnotationAssertion( "motor-verbal tic disorder"^^xsd:string) AnnotationAssertion( "psychogenic tics"^^xsd:string) AnnotationAssertion( "TOURETTE DISORDER CHRONIC MOTOR TICS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11119"^^xsd:string) AnnotationAssertion(rdfs:label "Gilles de la Tourette syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (psychologic dyspareunia) AnnotationAssertion(Annotation( "MESH:D004414"^^xsd:string) "Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female."^^xsd:string) AnnotationAssertion( "ICD10CM:F52.6"^^xsd:string) AnnotationAssertion( "ICD9CM:302.76"^^xsd:string) AnnotationAssertion( "MESH:D004414"^^xsd:string) AnnotationAssertion( "Non-organic dyspareunia"^^xsd:string) AnnotationAssertion( "dyspareunia"^^xsd:string) AnnotationAssertion( "psychogenic dyspareunia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11120"^^xsd:string) AnnotationAssertion(rdfs:label "psychologic dyspareunia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulpitis) AnnotationAssertion(Annotation( "https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms"^^xsd:string) Annotation( "https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis"^^xsd:string) "A dental pulp disease characterized by inflammation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001139"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.0"^^xsd:string) AnnotationAssertion( "ICD9CM:522.0"^^xsd:string) AnnotationAssertion( "MESH:D011671"^^xsd:string) AnnotationAssertion( "NCI:C52595"^^xsd:string) AnnotationAssertion( "endodontic inflammation"^^xsd:string) AnnotationAssertion( "endodontic inflammations"^^xsd:string) AnnotationAssertion( "pulpitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11121"^^xsd:string) AnnotationAssertion(rdfs:label "pulpitis"^^xsd:string) SubClassOf( ) # Class: (Henoch-Schoenlein purpura) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura"^^xsd:string) "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000965"^^xsd:string) AnnotationAssertion( "GARD:8204"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.0"^^xsd:string) AnnotationAssertion( "ICD9CM:287.0"^^xsd:string) AnnotationAssertion( "MESH:D011695"^^xsd:string) AnnotationAssertion( "NCI:C34963"^^xsd:string) AnnotationAssertion( "Anaphylactoid Purpura"^^xsd:string) AnnotationAssertion( "HSP"^^xsd:string) AnnotationAssertion( "Hemorrhagic Vasculitis"^^xsd:string) AnnotationAssertion( "Henoch Purpura"^^xsd:string) AnnotationAssertion( "Henoch Schonlein Purpura"^^xsd:string) AnnotationAssertion( "Henoch Schonlein Purpuras"^^xsd:string) AnnotationAssertion( "Henoch-Scholein purpura"^^xsd:string) AnnotationAssertion( "Henoch-Schönlein purpura"^^xsd:string) AnnotationAssertion( "IgA vasculitis"^^xsd:string) AnnotationAssertion( "IgAV"^^xsd:string) AnnotationAssertion( "Nonthrombocytopenic Purpura"^^xsd:string) AnnotationAssertion( "Nonthrombopenic Purpura"^^xsd:string) AnnotationAssertion( "Nonthrombopenic Purpuras"^^xsd:string) AnnotationAssertion( "Purpura Hemorrhagica"^^xsd:string) AnnotationAssertion( "allergic purpura"^^xsd:string) AnnotationAssertion( "autoimmune purpura"^^xsd:string) AnnotationAssertion( "rheumatoid purpura"^^xsd:string) AnnotationAssertion( "Henoch-Schoenlein purpura nephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11123"^^xsd:string) AnnotationAssertion(rdfs:label "Henoch-Schoenlein purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (qualitative platelet defect) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:287.1"^^xsd:string) AnnotationAssertion( "RDO:9002789"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:191311007"^^xsd:string) "Qualitative platelet deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11125"^^xsd:string) AnnotationAssertion(rdfs:label "qualitative platelet defect"^^xsd:string) SubClassOf( ) # Class: (acquired thrombocytopenia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.5"^^xsd:string) AnnotationAssertion( "ICD9CM:287.4"^^xsd:string) AnnotationAssertion( "RDO:9002307"^^xsd:string) AnnotationAssertion( "secondary thrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11126"^^xsd:string) AnnotationAssertion(rdfs:label "acquired thrombocytopenia"^^xsd:string) SubClassOf( ) # Class: (dislocation of ear ossicle) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:385.23"^^xsd:string) AnnotationAssertion( "MONDO:0001199"^^xsd:string) AnnotationAssertion( "dislocation of ear ossicles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11129"^^xsd:string) AnnotationAssertion(rdfs:label "dislocation of ear ossicle"^^xsd:string) SubClassOf( ) # Class: (secondary hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002034"^^xsd:string) AnnotationAssertion( "ICD10CM:I15"^^xsd:string) AnnotationAssertion( "ICD9CM:405"^^xsd:string) AnnotationAssertion( "NCI:C3657"^^xsd:string) AnnotationAssertion( "RDO:9001819"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11130"^^xsd:string) AnnotationAssertion(rdfs:label "secondary hypertension"^^xsd:string) SubClassOf( ) # Class: (prostatic hypertrophy) AnnotationAssertion(Annotation( "MESH:D011470"^^xsd:string) "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both."^^xsd:string) AnnotationAssertion( "MIM:600082"^^xsd:string) AnnotationAssertion( "EFO:0000284"^^xsd:string) AnnotationAssertion( "MESH:D011470"^^xsd:string) AnnotationAssertion( "NCI:C2897"^^xsd:string) AnnotationAssertion( "benign prostatic hyperplasia"^^xsd:string) AnnotationAssertion( "benign prostatic hypertrophy"^^xsd:string) AnnotationAssertion( "prostatic hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11132"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic hypertrophy"^^xsd:string) SubClassOf( ) # Class: (prostatic cyst) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N42.83"^^xsd:string) AnnotationAssertion( "ICD9CM:600.3"^^xsd:string) AnnotationAssertion( "MONDO:0001202"^^xsd:string) AnnotationAssertion( "cyst of prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11133"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic cyst"^^xsd:string) SubClassOf( ) # Class: (prolapse of lacrimal gland) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.16"^^xsd:string) AnnotationAssertion( "ICD9CM:375.16"^^xsd:string) AnnotationAssertion( "dislocation of lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11134"^^xsd:string) AnnotationAssertion(rdfs:label "prolapse of lacrimal gland"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1658495"^^xsd:string) "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5341"^^xsd:string) AnnotationAssertion( "esophageal sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1114"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypersecretion glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants"^^xsd:string) Annotation( "https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904"^^xsd:string) "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.82"^^xsd:string) AnnotationAssertion( "ICD9CM:365.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11148"^^xsd:string) AnnotationAssertion(rdfs:label "hypersecretion glaucoma"^^xsd:string) SubClassOf( ) # Class: (aqueous misdirection) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Aqueous_misdirection"^^xsd:string) "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.83"^^xsd:string) AnnotationAssertion( "ICD9CM:365.83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11149"^^xsd:string) AnnotationAssertion(rdfs:label "aqueous misdirection"^^xsd:string) SubClassOf( ) # Class: (sarcoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/Sarcoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45562"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000691"^^xsd:string) AnnotationAssertion( "EFO:1001968"^^xsd:string) AnnotationAssertion( "ICD9CM:171.9"^^xsd:string) AnnotationAssertion( "ICDO:8800/3"^^xsd:string) AnnotationAssertion( "MESH:D012509"^^xsd:string) AnnotationAssertion( "NCI:C128195"^^xsd:string) AnnotationAssertion( "NCI:C132276"^^xsd:string) AnnotationAssertion( "NCI:C21603"^^xsd:string) AnnotationAssertion( "NCI:C60505"^^xsd:string) AnnotationAssertion( "NCI:C9118"^^xsd:string) AnnotationAssertion( "NCI:C9306"^^xsd:string) AnnotationAssertion( "connective and soft tissue neoplasm"^^xsd:string) AnnotationAssertion( "sarcomas"^^xsd:string) AnnotationAssertion( "tumor of soft tissue and skeleton"^^xsd:string) AnnotationAssertion( "soft tissue sarcoma"^^xsd:string) AnnotationAssertion( "soft tissue sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1115"^^xsd:string) AnnotationAssertion(rdfs:label "sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholecystolithiasis) AnnotationAssertion(Annotation( "MESH:D041761"^^xsd:string) "Presence or formation of GALLSTONES in the GALLBLADDER."^^xsd:string) AnnotationAssertion( "EFO:1000864"^^xsd:string) AnnotationAssertion( "MESH:D041761"^^xsd:string) AnnotationAssertion( "NCI:C34443"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11151"^^xsd:string) AnnotationAssertion(rdfs:label "cholecystolithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (miliaria rubra) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Miliaria"^^xsd:string) Annotation( "https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string) "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000735"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.0"^^xsd:string) AnnotationAssertion( "ICD9CM:705.1"^^xsd:string) AnnotationAssertion( "prickly heat"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11153"^^xsd:string) AnnotationAssertion(rdfs:label "miliaria rubra"^^xsd:string) SubClassOf( ) # Class: (hypohidrosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypohidrosis"^^xsd:string) "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000712"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.4"^^xsd:string) AnnotationAssertion( "MESH:D007007"^^xsd:string) AnnotationAssertion( "NCI:C34718"^^xsd:string) AnnotationAssertion( "oligohidrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11155"^^xsd:string) AnnotationAssertion(rdfs:label "hypohidrosis"^^xsd:string) SubClassOf( ) # Class: (anhidrosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypohidrosis"^^xsd:string) Annotation( "https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat"^^xsd:string) "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000670"^^xsd:string) AnnotationAssertion( "ICD9CM:705.0"^^xsd:string) AnnotationAssertion( "MIM:206600"^^xsd:string) AnnotationAssertion( "NCI:C34385"^^xsd:string) AnnotationAssertion( "absence of sweating"^^xsd:string) AnnotationAssertion( "adiaphoresis"^^xsd:string) AnnotationAssertion( "familial generalized anhidrosis with abnormal or absent sweat glands"^^xsd:string) AnnotationAssertion( "familial generalized anhidrosis with normal sweat glands"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11156"^^xsd:string) AnnotationAssertion(rdfs:label "anhidrosis"^^xsd:string) SubClassOf( ) # Class: (pertussis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pertussis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800"^^xsd:string) "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000650"^^xsd:string) AnnotationAssertion( "MESH:D014917"^^xsd:string) AnnotationAssertion( "WC - whooping cough"^^xsd:string) AnnotationAssertion( "pertusses"^^xsd:string) AnnotationAssertion( "respiratory Bordetella pertussis infection"^^xsd:string) AnnotationAssertion( "whooping cough"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1116"^^xsd:string) AnnotationAssertion(rdfs:label "pertussis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neonatal respiratory failure) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26781405/"^^xsd:string) "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P28.5"^^xsd:string) AnnotationAssertion( "ICD9CM:770.84"^^xsd:string) AnnotationAssertion( "respiratory failure of newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11161"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal respiratory failure"^^xsd:string) SubClassOf( ) # Class: (respiratory failure) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Respiratory_failure"^^xsd:string) "A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009686"^^xsd:string) AnnotationAssertion( "EFO:0009842"^^xsd:string) AnnotationAssertion( "ICD10CM:J96.0"^^xsd:string) AnnotationAssertion( "ICD9CM:518.81"^^xsd:string) AnnotationAssertion( "MESH:D012131"^^xsd:string) AnnotationAssertion( "NCI:C27043"^^xsd:string) AnnotationAssertion( "Depressions, Ventilatory"^^xsd:string) AnnotationAssertion( "Respiratory Depression"^^xsd:string) AnnotationAssertion( "Respiratory Insufficiency"^^xsd:string) AnnotationAssertion( "Ventilatory Depression"^^xsd:string) AnnotationAssertion( "acute and chronic respiratory failure"^^xsd:string) AnnotationAssertion( "acute-on-chronic respiratory failure"^^xsd:string) AnnotationAssertion( "respiratory insufficiency/failure"^^xsd:string) AnnotationAssertion( "PROGRESSIVE PULMONARY FAILURE"^^xsd:string) AnnotationAssertion( "acute respiratory failure"^^xsd:string) AnnotationAssertion( "chronic respiratory failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11162"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (band keratopathy) AnnotationAssertion( "MIM:217500"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.42"^^xsd:string) AnnotationAssertion( "ICD9CM:371.43"^^xsd:string) AnnotationAssertion( "MESH:C562399"^^xsd:string) AnnotationAssertion( "NCI:C118765"^^xsd:string) AnnotationAssertion( "band-shaped corneal dystrophy"^^xsd:string) AnnotationAssertion( "band-shaped keratopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11164"^^xsd:string) AnnotationAssertion(rdfs:label "band keratopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common wart) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Wart"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009662"^^xsd:string) AnnotationAssertion( "NCI:C27087"^^xsd:string) AnnotationAssertion( "NCI:C5028"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11165"^^xsd:string) AnnotationAssertion(rdfs:label "common wart"^^xsd:string) SubClassOf( ) # Class: (papillomavirus infectious disease) AnnotationAssertion( "Papilloma virus infections commonly cause skin or mucous membrane growths (warts)."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-16T08:47:32Z"^^xsd:string) AnnotationAssertion( "EFO:0001668"^^xsd:string) AnnotationAssertion( "EFO:0010060"^^xsd:string) AnnotationAssertion( "MESH:D030361"^^xsd:string) AnnotationAssertion( "Papillomavirus Infection"^^xsd:string) AnnotationAssertion( "papillomavirus infections"^^xsd:string) AnnotationAssertion( "chronic human papillomavirus infection"^^xsd:string) AnnotationAssertion( "human papilloma virus infection"^^xsd:string) AnnotationAssertion( "human papillomavirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HPV18I1"^^xsd:string) AnnotationAssertion( "HPV18I2"^^xsd:string) AnnotationAssertion( "human papillomavirus type 18 integration site 1"^^xsd:string) AnnotationAssertion( "human papillomavirus type 18 integration site 2"^^xsd:string) AnnotationAssertion( "papillomavirus type 18 integration site 1"^^xsd:string) AnnotationAssertion( "papillomavirus type 18 integration site 2"^^xsd:string) AnnotationAssertion( "DOID:11166"^^xsd:string) AnnotationAssertion(rdfs:label "papillomavirus infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anogenital venereal wart) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html"^^xsd:string) "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007147"^^xsd:string) AnnotationAssertion( "ICD10CM:A63.0"^^xsd:string) AnnotationAssertion( "ICD9CM:078.11"^^xsd:string) AnnotationAssertion( "MESH:D003218"^^xsd:string) AnnotationAssertion( "NCI:C2960"^^xsd:string) AnnotationAssertion( "NCI:C4820"^^xsd:string) AnnotationAssertion( "Condylomata Acuminata"^^xsd:string) AnnotationAssertion( "Genital Wart"^^xsd:string) AnnotationAssertion( "Genital Warts"^^xsd:string) AnnotationAssertion( "Venereal Wart"^^xsd:string) AnnotationAssertion( "Venereal Warts"^^xsd:string) AnnotationAssertion( "anogenital human papilloma virus infectious disease"^^xsd:string) AnnotationAssertion( "anogenital warts"^^xsd:string) AnnotationAssertion( "condyloma acuminatum"^^xsd:string) AnnotationAssertion( "genital wart virus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11168"^^xsd:string) AnnotationAssertion(rdfs:label "anogenital venereal wart"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (enophthalmos) AnnotationAssertion(Annotation( "MESH:D015841"^^xsd:string) "Recession of the eyeball into the orbit."^^xsd:string) AnnotationAssertion( "ICD10CM:H05.4"^^xsd:string) AnnotationAssertion( "ICD9CM:376.5"^^xsd:string) AnnotationAssertion( "MESH:D015841"^^xsd:string) AnnotationAssertion( "NCI:C79552"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11175"^^xsd:string) AnnotationAssertion(rdfs:label "enophthalmos"^^xsd:string) SubClassOf( ) # Class: (total internal ophthalmoplegia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:367.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11177"^^xsd:string) AnnotationAssertion(rdfs:label "total internal ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-suppurative otitis media) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/1195971"^^xsd:string) "A otitis media which involves transudation of fluid in the middle ear without pus formation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H65"^^xsd:string) AnnotationAssertion( "ICD9CM:381.4"^^xsd:string) AnnotationAssertion( "nonsuppurative otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11180"^^xsd:string) AnnotationAssertion(rdfs:label "non-suppurative otitis media"^^xsd:string) SubClassOf( ) # Class: (serous glue ear) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion"^^xsd:string) "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H65.2"^^xsd:string) AnnotationAssertion( "ICD9CM:381.1"^^xsd:string) AnnotationAssertion( "RDO:9003852"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11181"^^xsd:string) AnnotationAssertion(rdfs:label "serous glue ear"^^xsd:string) SubClassOf( ) # Class: (acute conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.02"^^xsd:string) AnnotationAssertion( "ICD9CM:372.03"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11184"^^xsd:string) AnnotationAssertion(rdfs:label "acute conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (allescheriosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/934264/"^^xsd:string) "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B48.2"^^xsd:string) AnnotationAssertion( "ICD9CM:117.6"^^xsd:string) AnnotationAssertion( "petriellidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11186"^^xsd:string) AnnotationAssertion(rdfs:label "allescheriosis"^^xsd:string) SubClassOf( ) # Class: (pulp degeneration) AnnotationAssertion( "ICD10CM:K04.2"^^xsd:string) AnnotationAssertion( "ICD9CM:522.2"^^xsd:string) AnnotationAssertion( "NCI:C34962"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11189"^^xsd:string) AnnotationAssertion(rdfs:label "pulp degeneration"^^xsd:string) SubClassOf( ) # Class: (pseudomembranous conjunctivitis) AnnotationAssertion(Annotation( "http://bjo.bmj.com/content/55/5/312.full.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9400798"^^xsd:string) "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.22"^^xsd:string) AnnotationAssertion( "ICD9CM:372.04"^^xsd:string) AnnotationAssertion( "NCI:C35196"^^xsd:string) AnnotationAssertion( "RDO:9003079"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11190"^^xsd:string) AnnotationAssertion(rdfs:label "pseudomembranous conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndactyly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Syndactyly"^^xsd:string) Annotation( "http://www.hmc.psu.edu/healthinfo/pq/poly.htm"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/syndactyly"^^xsd:string) "A synostosis that results_in the fusion of two or more digits. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13181"^^xsd:string) AnnotationAssertion( "ICD10CM:Q70"^^xsd:string) AnnotationAssertion( "ICD9CM:755.1"^^xsd:string) AnnotationAssertion( "MESH:D013576"^^xsd:string) AnnotationAssertion( "NCI:C125597"^^xsd:string) AnnotationAssertion( "NCI:C87125"^^xsd:string) AnnotationAssertion( "ORDO:90025"^^xsd:string) AnnotationAssertion( "polysyndactyly"^^xsd:string) AnnotationAssertion( "symphalangism"^^xsd:string) AnnotationAssertion( "symphalangy"^^xsd:string) AnnotationAssertion( "syndactylia"^^xsd:string) AnnotationAssertion( "syndactylias"^^xsd:string) AnnotationAssertion( "syndactylies"^^xsd:string) AnnotationAssertion( "webbing of digits"^^xsd:string) AnnotationAssertion( "non-syndromic syndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11193"^^xsd:string) AnnotationAssertion(rdfs:label "syndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute laryngopharyngitis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis"^^xsd:string) "An upper respiratory tract disease which involves inflammation of both larynx and pharynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J06.0"^^xsd:string) AnnotationAssertion( "ICD9CM:465.0"^^xsd:string) AnnotationAssertion( "RDO:9004967"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11195"^^xsd:string) AnnotationAssertion(rdfs:label "acute laryngopharyngitis"^^xsd:string) SubClassOf( ) # Class: (serous conjunctivitis except viral) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/1998/0215/p735.html"^^xsd:string) "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.23"^^xsd:string) AnnotationAssertion( "ICD9CM:372.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11197"^^xsd:string) AnnotationAssertion(rdfs:label "serous conjunctivitis except viral"^^xsd:string) SubClassOf( ) # Class: (DiGeorge syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome"^^xsd:string) "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)"^^xsd:string) AnnotationAssertion( "MIM:188400"^^xsd:string) AnnotationAssertion( "GARD:10299"^^xsd:string) AnnotationAssertion( "ICD10CM:D82.1"^^xsd:string) AnnotationAssertion( "ICD9CM:279.11"^^xsd:string) AnnotationAssertion( "MESH:D004062"^^xsd:string) AnnotationAssertion( "NCI:C2989"^^xsd:string) AnnotationAssertion( "22q11.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "22q11.2DS"^^xsd:string) AnnotationAssertion( "CHROMOSOME 22q11.2 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "DGS"^^xsd:string) AnnotationAssertion( "DiGeorge Anomaly"^^xsd:string) AnnotationAssertion( "DiGeorge Sequence"^^xsd:string) AnnotationAssertion( "DiGeorge's syndrome"^^xsd:string) AnnotationAssertion( "Familial Third and Fourth Pharyngeal Pouch Syndrome"^^xsd:string) AnnotationAssertion( "Sedlackova syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant Opitz G Bbb syndrome"^^xsd:string) AnnotationAssertion( "hypoplasia of thymus and parathyroids"^^xsd:string) AnnotationAssertion( "pharyngeal pouch syndrome"^^xsd:string) AnnotationAssertion( "thymic aplasia syndrome"^^xsd:string) AnnotationAssertion( "CATCH22"^^xsd:string) AnnotationAssertion( "DGCR"^^xsd:string) AnnotationAssertion( "third and fourth pharyngeal pouch syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11198"^^xsd:string) AnnotationAssertion(rdfs:label "DiGeorge syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypoparathyroidism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypoparathyroidism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=hypoparathyroidism"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956"^^xsd:string) "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009451"^^xsd:string) AnnotationAssertion( "GARD:6733"^^xsd:string) AnnotationAssertion( "ICD10CM:E20"^^xsd:string) AnnotationAssertion( "ICD9CM:252.1"^^xsd:string) AnnotationAssertion( "MESH:D007011"^^xsd:string) AnnotationAssertion( "NCI:C78350"^^xsd:string) AnnotationAssertion( "ORDO:2238"^^xsd:string) AnnotationAssertion( "idiopathic hypoparathyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11199"^^xsd:string) AnnotationAssertion(rdfs:label "hypoparathyroidism"^^xsd:string) SubClassOf( ) # Class: (esophageal varix) AnnotationAssertion(Annotation( "MESH:D004932"^^xsd:string) "Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)."^^xsd:string) AnnotationAssertion( "EFO:0009545"^^xsd:string) AnnotationAssertion( "GARD:6384"^^xsd:string) AnnotationAssertion( "ICD10CM:I85.01"^^xsd:string) AnnotationAssertion( "ICD9CM:456.0"^^xsd:string) AnnotationAssertion( "ICD9CM:456.2"^^xsd:string) AnnotationAssertion( "ICD9CM:456.20"^^xsd:string) AnnotationAssertion( "MESH:D004932"^^xsd:string) AnnotationAssertion( "MONDO:0001221"^^xsd:string) AnnotationAssertion( "NCI:C53506"^^xsd:string) AnnotationAssertion( "NCI:C78282"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:17709002"^^xsd:string) "Bleeding esophageal varices"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:236067006"^^xsd:string) "Bleeding oesophageal varices"^^xsd:string) AnnotationAssertion( "Esophageal and Gastric Varices"^^xsd:string) AnnotationAssertion( "Gastric Varix"^^xsd:string) AnnotationAssertion( "esophageal varices"^^xsd:string) AnnotationAssertion( "esophageal varices in disease classified elsewhere, with bleeding"^^xsd:string) AnnotationAssertion( "esophageal varices with bleeding"^^xsd:string) AnnotationAssertion( "esophageal varices with bleeding in disease EC"^^xsd:string) AnnotationAssertion( "esophageal varices without bleeding"^^xsd:string) AnnotationAssertion( "esophageal varices without mention of bleeding"^^xsd:string) AnnotationAssertion( "gastric varices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:112"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal varix"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T cell deficiency) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/T_cell_deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18755723"^^xsd:string) "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:613"^^xsd:string) AnnotationAssertion( "NCI:C27145"^^xsd:string) AnnotationAssertion( "NCI:C27872"^^xsd:string) AnnotationAssertion( "T-cell Immunodeficiency"^^xsd:string) AnnotationAssertion( "T-lymphocyte deficiency"^^xsd:string) AnnotationAssertion( "T-lymphocyte immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11200"^^xsd:string) AnnotationAssertion(rdfs:label "T cell deficiency"^^xsd:string) SubClassOf( ) # Class: (parathyroid gland disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parathyroid_disease"^^xsd:string) "An endocrine system disease that is located_in the parathyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005754"^^xsd:string) AnnotationAssertion( "ICD10CM:E21.5"^^xsd:string) AnnotationAssertion( "ICD9CM:252.9"^^xsd:string) AnnotationAssertion( "MESH:D010279"^^xsd:string) AnnotationAssertion( "NCI:C26844"^^xsd:string) AnnotationAssertion( "Parathyroid Disease"^^xsd:string) AnnotationAssertion( "Parathyroid Disorder"^^xsd:string) AnnotationAssertion( "disease of parathyroid glands"^^xsd:string) AnnotationAssertion( "parathyroid diseases"^^xsd:string) AnnotationAssertion( "parathyroid disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11201"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid gland disease"^^xsd:string) SubClassOf( ) # Class: (primary hyperparathyroidism) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/"^^xsd:string) "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002620"^^xsd:string) AnnotationAssertion( "EFO:0008519"^^xsd:string) AnnotationAssertion( "GARD:8612"^^xsd:string) AnnotationAssertion( "ICD10CM:E21.0"^^xsd:string) AnnotationAssertion( "ICD9CM:252.01"^^xsd:string) AnnotationAssertion( "MESH:D049950"^^xsd:string) AnnotationAssertion( "NCI:C48280"^^xsd:string) AnnotationAssertion( "ORDO:99878"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:190868007"^^xsd:string) "familial benign hypercalcemia"^^xsd:string) AnnotationAssertion( "familial primary hyperparathyroidism"^^xsd:string) AnnotationAssertion( "primary hyperparathyroidisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11202"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperparathyroidism"^^xsd:string) SubClassOf( ) # Class: (Angelucci's syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.1"^^xsd:string) AnnotationAssertion( "ICD9CM:372.05"^^xsd:string) AnnotationAssertion( "NCI:C34353"^^xsd:string) AnnotationAssertion( "RDO:9002737"^^xsd:string) AnnotationAssertion( "Angelucci syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193863004"^^xsd:string) "acute atopic conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11203"^^xsd:string) AnnotationAssertion(rdfs:label "Angelucci's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (allergic conjunctivitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergic_conjunctivitis"^^xsd:string) "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007141"^^xsd:string) AnnotationAssertion( "MESH:D003233"^^xsd:string) AnnotationAssertion( "NCI:C34506"^^xsd:string) AnnotationAssertion( "Allergic Conjunctivitides"^^xsd:string) AnnotationAssertion( "Atopic Conjunctivitides"^^xsd:string) AnnotationAssertion( "Atopic Conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11204"^^xsd:string) AnnotationAssertion(rdfs:label "allergic conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (opioid abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Opioid"^^xsd:string) "A substance abuse that involves the recurring use of opioid drugs despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010702"^^xsd:string) AnnotationAssertion( "ICD10CM:F11.1"^^xsd:string) AnnotationAssertion( "ICD9CM:305.5"^^xsd:string) AnnotationAssertion( "opioid use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11206"^^xsd:string) AnnotationAssertion(rdfs:label "opioid abuse"^^xsd:string) SubClassOf( ) # Class: (buphthalmos) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1135/"^^xsd:string) "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231300"^^xsd:string) AnnotationAssertion( "CYP1B1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CYP1B1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "congenital glaucoma"^^xsd:string) AnnotationAssertion( "ICD9CM:743.21"^^xsd:string) AnnotationAssertion( "MESH:C565547"^^xsd:string) AnnotationAssertion( "NCI:C148260"^^xsd:string) AnnotationAssertion( "GLC3"^^xsd:string) AnnotationAssertion( "GLC3A"^^xsd:string) AnnotationAssertion( "primary congenital glaucoma 3, A"^^xsd:string) AnnotationAssertion( "primary congenital glaucoma 3A"^^xsd:string) AnnotationAssertion( "simple buphthalmos"^^xsd:string) AnnotationAssertion( "BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET"^^xsd:string) AnnotationAssertion( "GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC"^^xsd:string) AnnotationAssertion( "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11211"^^xsd:string) AnnotationAssertion(rdfs:label "buphthalmos"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hydrophthalmos) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1135/"^^xsd:string) "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000968"^^xsd:string) AnnotationAssertion( "ICD10CM:Q15.0"^^xsd:string) AnnotationAssertion( "MESH:D006871"^^xsd:string) AnnotationAssertion( "NCI:C50648"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11212"^^xsd:string) AnnotationAssertion(rdfs:label "hydrophthalmos"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute contagious conjunctivitis) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/1998/0215/p735.html"^^xsd:string) "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35704"^^xsd:string) AnnotationAssertion( "RDO:9003083"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:399047004"^^xsd:string) "Contagious opthalmia"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:267734002"^^xsd:string) "Pink eye"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:399219006"^^xsd:string) "Pinkeye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11213"^^xsd:string) AnnotationAssertion(rdfs:label "acute contagious conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (chronic tympanitis) AnnotationAssertion( "ICD10CM:H73.1"^^xsd:string) AnnotationAssertion( "ICD9CM:384.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11217"^^xsd:string) AnnotationAssertion(rdfs:label "chronic tympanitis"^^xsd:string) SubClassOf( ) # Class: (conjunctival folliculosis) AnnotationAssertion(Annotation( "https://www.ajo.com/article/S0002-9394(21)90838-9/abstract"^^xsd:string) "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.01"^^xsd:string) AnnotationAssertion( "ICD9CM:372.02"^^xsd:string) AnnotationAssertion( "RDO:9003084"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:372.02"^^xsd:string) "acute follicular conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11219"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival folliculosis"^^xsd:string) SubClassOf( ) # Class: (small intestine diverticulitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003925"^^xsd:string) AnnotationAssertion( "Diverticulosis of small intestine with hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11223"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine diverticulitis"^^xsd:string) SubClassOf( ) # Class: (acute hemorrhagic conjunctivitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis"^^xsd:string) "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007131"^^xsd:string) AnnotationAssertion( "ICD9CM:077.4"^^xsd:string) AnnotationAssertion( "MESH:D003232"^^xsd:string) AnnotationAssertion( "NCI:C34505"^^xsd:string) AnnotationAssertion( "Apollo disease"^^xsd:string) AnnotationAssertion( "acute hemorrhagic conjunctivitides"^^xsd:string) AnnotationAssertion( "epidemic hemorrhagic conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11227"^^xsd:string) AnnotationAssertion(rdfs:label "acute hemorrhagic conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondyloarthropathy) AnnotationAssertion(Annotation( "MESH:D025242"^^xsd:string) "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others."^^xsd:string) AnnotationAssertion( "EFO:0000706"^^xsd:string) AnnotationAssertion( "GARD:4971"^^xsd:string) AnnotationAssertion( "MESH:D025242"^^xsd:string) AnnotationAssertion( "spondarthropathy"^^xsd:string) AnnotationAssertion( "spondylarthrosis"^^xsd:string) AnnotationAssertion( "spondyloarthropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1123"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloarthropathy"^^xsd:string) SubClassOf( ) # Class: (acute orbital inflammation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.0"^^xsd:string) AnnotationAssertion( "ICD9CM:376.0"^^xsd:string) AnnotationAssertion( "RDO:9002989"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:376.0"^^xsd:string) "acute inflammation of orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11230"^^xsd:string) AnnotationAssertion(rdfs:label "acute orbital inflammation"^^xsd:string) SubClassOf( ) # Class: (orbital periostitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/"^^xsd:string) "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.03"^^xsd:string) AnnotationAssertion( "ICD9CM:376.02"^^xsd:string) AnnotationAssertion( "RDO:9002992"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11231"^^xsd:string) AnnotationAssertion(rdfs:label "orbital periostitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbital osteomyelitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/"^^xsd:string) "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.02"^^xsd:string) AnnotationAssertion( "ICD9CM:376.03"^^xsd:string) AnnotationAssertion( "RDO:9002990"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11232"^^xsd:string) AnnotationAssertion(rdfs:label "orbital osteomyelitis"^^xsd:string) SubClassOf( ) # Class: (orbital tenonitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/"^^xsd:string) "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:376.04"^^xsd:string) AnnotationAssertion( "RDO:9002994"^^xsd:string) AnnotationAssertion( "tenonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11233"^^xsd:string) AnnotationAssertion(rdfs:label "orbital tenonitis"^^xsd:string) SubClassOf( ) # Class: (orbital cellulitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Tenonitis"^^xsd:string) "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001076"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.01"^^xsd:string) AnnotationAssertion( "ICD9CM:376.01"^^xsd:string) AnnotationAssertion( "MESH:D054517"^^xsd:string) AnnotationAssertion( "NCI:C99000"^^xsd:string) AnnotationAssertion( "Orbital Cellulitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11234"^^xsd:string) AnnotationAssertion(rdfs:label "orbital cellulitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adhesive otitis media) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media"^^xsd:string) "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H74.1"^^xsd:string) AnnotationAssertion( "ICD9CM:385.1"^^xsd:string) AnnotationAssertion( "RDO:9004867"^^xsd:string) AnnotationAssertion( "chronic adhesive otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11235"^^xsd:string) AnnotationAssertion(rdfs:label "adhesive otitis media"^^xsd:string) SubClassOf( ) # Class: (appendix cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vermiform_appendix"^^xsd:string) "A intestinal cancer that is located_in the appendix. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.1"^^xsd:string) AnnotationAssertion( "ICD9CM:153.5"^^xsd:string) AnnotationAssertion( "NCI:C9333"^^xsd:string) AnnotationAssertion( "appendiceal cancer"^^xsd:string) AnnotationAssertion( "cancer of appendix"^^xsd:string) AnnotationAssertion( "cancer of the appendix"^^xsd:string) AnnotationAssertion( "malignant neoplasm of appendix vermiformis"^^xsd:string) AnnotationAssertion( "malignant tumor of appendix"^^xsd:string) AnnotationAssertion( "malignant tumor of the appendix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11239"^^xsd:string) AnnotationAssertion(rdfs:label "appendix cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (appendiceal neoplasm) AnnotationAssertion(Annotation( "MESH:D001063"^^xsd:string) "Tumors or cancer of the APPENDIX."^^xsd:string) AnnotationAssertion( "RDO:0004891"^^xsd:string) AnnotationAssertion( "EFO:0003880"^^xsd:string) AnnotationAssertion( "EFO:1000089"^^xsd:string) AnnotationAssertion( "EFO:1000093"^^xsd:string) AnnotationAssertion( "MESH:D001063"^^xsd:string) AnnotationAssertion( "NCI:C4434"^^xsd:string) AnnotationAssertion( "appendiceal neoplasms"^^xsd:string) AnnotationAssertion( "appendix neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of appendix"^^xsd:string) AnnotationAssertion( "Appendix Adenoma"^^xsd:string) AnnotationAssertion( "Appendix Villous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11240"^^xsd:string) AnnotationAssertion(rdfs:label "appendiceal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (appendix lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5513"^^xsd:string) AnnotationAssertion( "appendiceal lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11241"^^xsd:string) AnnotationAssertion(rdfs:label "appendix lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plethora of newborn) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P61.1"^^xsd:string) AnnotationAssertion( "ICD9CM:776.4"^^xsd:string) AnnotationAssertion( "NCI:C27069"^^xsd:string) AnnotationAssertion( "RDO:9002582"^^xsd:string) AnnotationAssertion( "neonatal polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11242"^^xsd:string) AnnotationAssertion(rdfs:label "plethora of newborn"^^xsd:string) SubClassOf( ) # Class: (anemia of prematurity) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20463861/"^^xsd:string) Annotation( "https://www.nature.com/articles/s41372-021-00992-0"^^xsd:string) "A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P61.2"^^xsd:string) AnnotationAssertion( "ICD9CM:776.6"^^xsd:string) AnnotationAssertion( "MONDO:0001239"^^xsd:string) AnnotationAssertion( "NCI:C97167"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11243"^^xsd:string) AnnotationAssertion(rdfs:label "anemia of prematurity"^^xsd:string) SubClassOf( ) # Class: (neonatal anemia) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns"^^xsd:string) "An anemia that is characterized by a lower red blood cell count than normal in neonates. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000751"^^xsd:string) AnnotationAssertion( "MONDO:0001240"^^xsd:string) AnnotationAssertion( "anemia neonatorum"^^xsd:string) AnnotationAssertion( "neonatal anaemia"^^xsd:string) AnnotationAssertion( "neonatal anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11244"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient neonatal neutropenia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P61.5"^^xsd:string) AnnotationAssertion( "ICD9CM:776.7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11245"^^xsd:string) AnnotationAssertion(rdfs:label "transient neonatal neutropenia"^^xsd:string) SubClassOf( ) # Class: (DIC in newborn) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P60"^^xsd:string) AnnotationAssertion( "ICD9CM:776.2"^^xsd:string) AnnotationAssertion( "NCI:C111856"^^xsd:string) AnnotationAssertion( "RDO:9002937"^^xsd:string) AnnotationAssertion( "Disseminated intravascular coagulation in newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11246"^^xsd:string) AnnotationAssertion(rdfs:label "DIC in newborn"^^xsd:string) SubClassOf( ) # Class: (disseminated intravascular coagulation) AnnotationAssertion(Annotation( "MESH:D004211"^^xsd:string) "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS."^^xsd:string) AnnotationAssertion( "ICD9CM:286.6"^^xsd:string) AnnotationAssertion( "MESH:D004211"^^xsd:string) AnnotationAssertion( "NCI:C2992"^^xsd:string) AnnotationAssertion( "RDO:0001199"^^xsd:string) AnnotationAssertion( "Consumption Coagulopathies"^^xsd:string) AnnotationAssertion( "Consumption Coagulopathy"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C2992"^^xsd:string) "DIC"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:286.6"^^xsd:string) "Defibrination syndrome"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:286.6"^^xsd:string) "Diffuse or disseminated intravascular coagulation"^^xsd:string) AnnotationAssertion( "Disseminated Intravascular Coagulations"^^xsd:string) AnnotationAssertion( "DIC with the fibrinolytic phenotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11247"^^xsd:string) AnnotationAssertion(rdfs:label "disseminated intravascular coagulation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitamin K deficiency bleeding) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/007320.htm"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/vitamink/facts.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/"^^xsd:string) "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000964"^^xsd:string) AnnotationAssertion( "ICD10CM:E56.1"^^xsd:string) AnnotationAssertion( "ICD9CM:269.0"^^xsd:string) AnnotationAssertion( "MESH:D006475"^^xsd:string) AnnotationAssertion( "MESH:D014813"^^xsd:string) AnnotationAssertion( "NCI:C99108"^^xsd:string) AnnotationAssertion( "deficiency of vitamin K"^^xsd:string) AnnotationAssertion( "hemorrhagic disease of newborn"^^xsd:string) AnnotationAssertion( "newborn hemorrhagic disease"^^xsd:string) AnnotationAssertion( "newborn hemorrhagic diseases"^^xsd:string) AnnotationAssertion( "vitamin K deficiencies"^^xsd:string) AnnotationAssertion( "vitamin K deficiency"^^xsd:string) AnnotationAssertion( "vitamin K deficiency hemorrhagic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11249"^^xsd:string) AnnotationAssertion(rdfs:label "vitamin K deficiency bleeding"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (microcytic anemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1578956/"^^xsd:string) "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C562385"^^xsd:string) AnnotationAssertion( "MIM:206200"^^xsd:string) AnnotationAssertion( "MONDO:0001245"^^xsd:string) AnnotationAssertion( "NCI:C35141"^^xsd:string) AnnotationAssertion( "Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism"^^xsd:string) AnnotationAssertion( "IRIDA"^^xsd:string) AnnotationAssertion( "Iron-Handling Disorder, Hereditary"^^xsd:string) AnnotationAssertion( "Iron-Refractory Iron Deficiency Anemia"^^xsd:string) AnnotationAssertion( "Pseudo-Iron-Deficiency Anemia"^^xsd:string) AnnotationAssertion( "TMPRSS6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11252"^^xsd:string) AnnotationAssertion(rdfs:label "microcytic anemia"^^xsd:string) SubClassOf( ) # Class: (Brill-Zinsser disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epidemic_typhus"^^xsd:string) "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007182"^^xsd:string) AnnotationAssertion( "ICD10CM:A75.1"^^xsd:string) AnnotationAssertion( "ICD9CM:081.1"^^xsd:string) AnnotationAssertion( "RDO:9002599"^^xsd:string) AnnotationAssertion( "Brill disease"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:081.1"^^xsd:string) "Brill's disease"^^xsd:string) AnnotationAssertion( "Brills disease"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:081.1"^^xsd:string) "recrudescent typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "latent typhus"^^xsd:string) AnnotationAssertion( "sporadic typhus"^^xsd:string) AnnotationAssertion( "DOID:11254"^^xsd:string) AnnotationAssertion(rdfs:label "Brill-Zinsser disease"^^xsd:string) SubClassOf( ) # Class: (typhus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Typhus"^^xsd:string) "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009117"^^xsd:string) AnnotationAssertion( "GARD:7833"^^xsd:string) AnnotationAssertion( "ICD10CM:A75.0"^^xsd:string) AnnotationAssertion( "ICD10CM:A75.2"^^xsd:string) AnnotationAssertion( "ICD10CM:A75.9"^^xsd:string) AnnotationAssertion( "ICD9CM:080"^^xsd:string) AnnotationAssertion( "ICD9CM:081.0"^^xsd:string) AnnotationAssertion( "ICD9CM:081.9"^^xsd:string) AnnotationAssertion( "NCI:C84689"^^xsd:string) AnnotationAssertion( "Moscow typhus"^^xsd:string) AnnotationAssertion( "exanthematic typhus fever"^^xsd:string) AnnotationAssertion( "flea typhus"^^xsd:string) AnnotationAssertion( "louse-borne [epidemic] typhus"^^xsd:string) AnnotationAssertion( "typhus fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "European typhus"^^xsd:string) AnnotationAssertion( "Hospital fever"^^xsd:string) AnnotationAssertion( "Mexican typhus"^^xsd:string) AnnotationAssertion( "Petechial fever"^^xsd:string) AnnotationAssertion( "Prison fever"^^xsd:string) AnnotationAssertion( "classical typhus"^^xsd:string) AnnotationAssertion( "exanthematous typhus"^^xsd:string) AnnotationAssertion( "famine fever"^^xsd:string) AnnotationAssertion( "rat flea typhus"^^xsd:string) AnnotationAssertion( "ship fever"^^xsd:string) AnnotationAssertion( "shop typhus"^^xsd:string) AnnotationAssertion( "typhus exanthematique"^^xsd:string) AnnotationAssertion( "DOID:11256"^^xsd:string) AnnotationAssertion(rdfs:label "typhus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (social phobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Social_phobia"^^xsd:string) "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001917"^^xsd:string) AnnotationAssertion( "ICD10CM:F40.1"^^xsd:string) AnnotationAssertion( "ICD9CM:300.23"^^xsd:string) AnnotationAssertion( "MESH:D000072861"^^xsd:string) AnnotationAssertion( "NCI:C34927"^^xsd:string) AnnotationAssertion( "social anxiety disorder"^^xsd:string) AnnotationAssertion( "social anxiety disorders"^^xsd:string) AnnotationAssertion( "social evaluation fear"^^xsd:string) AnnotationAssertion( "social evaluation phobia"^^xsd:string) AnnotationAssertion( "social phobias"^^xsd:string) AnnotationAssertion( "sociophobia"^^xsd:string) AnnotationAssertion( "sociophobias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11257"^^xsd:string) AnnotationAssertion(rdfs:label "social phobia"^^xsd:string) SubClassOf( ) # Class: (cat-scratch disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cat_scratch_disease"^^xsd:string) Annotation( "http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#"^^xsd:string) "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007195"^^xsd:string) AnnotationAssertion( "ICD10CM:A28.1"^^xsd:string) AnnotationAssertion( "ICD9CM:078.3"^^xsd:string) AnnotationAssertion( "MESH:D002372"^^xsd:string) AnnotationAssertion( "NCI:C84620"^^xsd:string) AnnotationAssertion( "Debre's Syndrome"^^xsd:string) AnnotationAssertion( "Debre-Mollaret Syndrome"^^xsd:string) AnnotationAssertion( "Foshay-Mollaret Cat Scratch Fever"^^xsd:string) AnnotationAssertion( "Inoculation Lymphoreticulosis"^^xsd:string) AnnotationAssertion( "benign lymphoreticulosis"^^xsd:string) AnnotationAssertion( "cat scratch fever"^^xsd:string) AnnotationAssertion( "catscratch disease"^^xsd:string) AnnotationAssertion( "inoculation lymphoreticuloses"^^xsd:string) AnnotationAssertion( "inoculative lymphoreticuloses"^^xsd:string) AnnotationAssertion( "inoculative lymphoreticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11258"^^xsd:string) AnnotationAssertion(rdfs:label "cat-scratch disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rabies) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rabies"^^xsd:string) Annotation( "https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies"^^xsd:string) "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7516"^^xsd:string) AnnotationAssertion( "ICD10CM:A82"^^xsd:string) AnnotationAssertion( "ICD9CM:071"^^xsd:string) AnnotationAssertion( "MESH:D011818"^^xsd:string) AnnotationAssertion( "NCI:C28182"^^xsd:string) AnnotationAssertion( "hydrophobia"^^xsd:string) AnnotationAssertion( "lyssa"^^xsd:string) AnnotationAssertion( "lyssas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11260"^^xsd:string) AnnotationAssertion(rdfs:label "rabies"^^xsd:string) SubClassOf( ) # Class: (ornithosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Psittacosis"^^xsd:string) "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007410"^^xsd:string) AnnotationAssertion( "ICD10CM:A70"^^xsd:string) AnnotationAssertion( "ICD9CM:073"^^xsd:string) AnnotationAssertion( "MESH:D009956"^^xsd:string) AnnotationAssertion( "NCI:C34873"^^xsd:string) AnnotationAssertion( "ornithoses"^^xsd:string) AnnotationAssertion( "psittacoses"^^xsd:string) AnnotationAssertion( "psittacosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11262"^^xsd:string) AnnotationAssertion(rdfs:label "ornithosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chlamydia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chlamydia_infection"^^xsd:string) "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007205"^^xsd:string) AnnotationAssertion( "MESH:D002690"^^xsd:string) AnnotationAssertion( "Chlamydia Infection"^^xsd:string) AnnotationAssertion( "chlamydia infections"^^xsd:string) AnnotationAssertion( "chlamydia trachomatis infectious disease"^^xsd:string) AnnotationAssertion( "chlamydial Infection"^^xsd:string) AnnotationAssertion( "chlamydial disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11263"^^xsd:string) AnnotationAssertion(rdfs:label "chlamydia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trachoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trachoma"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm"^^xsd:string) Annotation( "http://www.who.int/blindness/causes/priority/en/index2.html"^^xsd:string) "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10374"^^xsd:string) AnnotationAssertion( "ICD10CM:A71"^^xsd:string) AnnotationAssertion( "ICD10CM:A71.0"^^xsd:string) AnnotationAssertion( "ICD10CM:A71.1"^^xsd:string) AnnotationAssertion( "ICD9CM:076"^^xsd:string) AnnotationAssertion( "ICD9CM:076.0"^^xsd:string) AnnotationAssertion( "ICD9CM:076.1"^^xsd:string) AnnotationAssertion( "MESH:D014141"^^xsd:string) AnnotationAssertion( "Egyptian ophthalmia"^^xsd:string) AnnotationAssertion( "active stage trachoma"^^xsd:string) AnnotationAssertion( "trachoma dubium"^^xsd:string) AnnotationAssertion( "trachomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11265"^^xsd:string) AnnotationAssertion(rdfs:label "trachoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hantavirus hemorrhagic fever with renal syndrome) AnnotationAssertion(Annotation( "http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007299"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.5"^^xsd:string) AnnotationAssertion( "ICD9CM:078.6"^^xsd:string) AnnotationAssertion( "MESH:D006480"^^xsd:string) AnnotationAssertion( "NCI:C84753"^^xsd:string) AnnotationAssertion( "HFRS"^^xsd:string) AnnotationAssertion( "Puumala virus nephropathy"^^xsd:string) AnnotationAssertion( "Russian hemorrhagic fever"^^xsd:string) AnnotationAssertion( "epidemic hemorrhagic fever"^^xsd:string) AnnotationAssertion( "epidemic hemorrhagic fevers"^^xsd:string) AnnotationAssertion( "hemorrhagic fever with renal syndrome"^^xsd:string) AnnotationAssertion( "hemorrhagic nephroso nephritis"^^xsd:string) AnnotationAssertion( "hemorrhagic nephroso-nephritides"^^xsd:string) AnnotationAssertion( "hemorrhagic nephrosonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11266"^^xsd:string) AnnotationAssertion(rdfs:label "Hantavirus hemorrhagic fever with renal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (keratomalacia) AnnotationAssertion( "GARD:6825"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.44"^^xsd:string) AnnotationAssertion( "ICD9CM:371.45"^^xsd:string) AnnotationAssertion( "MESH:C536156"^^xsd:string) AnnotationAssertion( "Retinol Deficiency"^^xsd:string) AnnotationAssertion( "Xerotic Keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11267"^^xsd:string) AnnotationAssertion(rdfs:label "keratomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic apical periodontitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:522.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11269"^^xsd:string) AnnotationAssertion(rdfs:label "chronic apical periodontitis"^^xsd:string) SubClassOf( ) # Class: (Plummer's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009191"^^xsd:string) AnnotationAssertion( "ICD10CM:E05.2"^^xsd:string) AnnotationAssertion( "ICD9CM:242.3"^^xsd:string) AnnotationAssertion( "NCI:C35171"^^xsd:string) AnnotationAssertion( "Plummer disease"^^xsd:string) AnnotationAssertion( "toxic nodular goiter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11277"^^xsd:string) AnnotationAssertion(rdfs:label "Plummer's disease"^^xsd:string) SubClassOf( ) # Class: (solar retinopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.02"^^xsd:string) AnnotationAssertion( "ICD9CM:363.31"^^xsd:string) AnnotationAssertion( "solar retinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11282"^^xsd:string) AnnotationAssertion(rdfs:label "solar retinopathy"^^xsd:string) SubClassOf( ) # Class: (peripheral scars of retina) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11283"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral scars of retina"^^xsd:string) SubClassOf( ) # Class: (tick paralysis) AnnotationAssertion(Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10428629"^^xsd:string) "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007509"^^xsd:string) AnnotationAssertion( "GARD:7771"^^xsd:string) AnnotationAssertion( "MESH:D013985"^^xsd:string) AnnotationAssertion( "Tick Paralyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11285"^^xsd:string) AnnotationAssertion(rdfs:label "tick paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ventilation pneumonitis) AnnotationAssertion(Annotation( "http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf"^^xsd:string) "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.7"^^xsd:string) AnnotationAssertion( "ICD9CM:495.7"^^xsd:string) AnnotationAssertion( "RDO:9002683"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:195990006"^^xsd:string) "Air-conditioner and humidifier lung"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:48347002"^^xsd:string) "Humidifier lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11289"^^xsd:string) AnnotationAssertion(rdfs:label "ventilation pneumonitis"^^xsd:string) SubClassOf( ) # Class: (pituitary apoplexy) AnnotationAssertion(Annotation( "MESH:D010899"^^xsd:string) "The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA."^^xsd:string) AnnotationAssertion( "EFO:1001108"^^xsd:string) AnnotationAssertion( "MESH:D010899"^^xsd:string) AnnotationAssertion( "NCI:C26853"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1129"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary apoplexy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arteriovenous malformation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arteriovenous_malformation"^^xsd:string) "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I77.0"^^xsd:string) AnnotationAssertion( "ICDO:9123/0"^^xsd:string) AnnotationAssertion( "MESH:D001165"^^xsd:string) AnnotationAssertion( "NCI:C2882"^^xsd:string) AnnotationAssertion( "arteriovenous hemangioma"^^xsd:string) AnnotationAssertion( "arteriovenous malformations"^^xsd:string) AnnotationAssertion( "cirsoid aneurysm"^^xsd:string) AnnotationAssertion( "racemose aneurysm"^^xsd:string) AnnotationAssertion( "racemose angioma"^^xsd:string) AnnotationAssertion( "racemose hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11294"^^xsd:string) AnnotationAssertion(rdfs:label "arteriovenous malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinal microaneurysm) AnnotationAssertion(Annotation( "MESH:D000071071"^^xsd:string) "Aneurysm of the MICROVASCULATURE. Charcot?Bouchard aneurysms are aneurysms of the brain vasculature which is a common cause of CEREBRAL HEMORRHAGE. Retinal microaneurysm is an early diagnostic sign of DIABETIC RETINOPATHY."^^xsd:string) AnnotationAssertion( "ICD9CM:362.14"^^xsd:string) AnnotationAssertion( "MESH:D000071071"^^xsd:string) AnnotationAssertion( "RDO:0016073"^^xsd:string) AnnotationAssertion( "Charcot Bouchard Aneurysm"^^xsd:string) AnnotationAssertion( "Charcot Bouchard Aneurysms"^^xsd:string) AnnotationAssertion( "Microaneurysms"^^xsd:string) AnnotationAssertion( "Miliary Aneurysm"^^xsd:string) AnnotationAssertion( "Miliary Aneurysms"^^xsd:string) AnnotationAssertion( "Retinal Microaneurysms"^^xsd:string) AnnotationAssertion( "microaneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11295"^^xsd:string) AnnotationAssertion(rdfs:label "retinal microaneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vertebral artery occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I65.0"^^xsd:string) AnnotationAssertion( "ICD9CM:433.2"^^xsd:string) AnnotationAssertion( "RDO:9004098"^^xsd:string) AnnotationAssertion( "occlusion and stenosis of vertebral artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11299"^^xsd:string) AnnotationAssertion(rdfs:label "vertebral artery occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary infarct) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27117"^^xsd:string) AnnotationAssertion( "pituitary infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1130"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary infarct"^^xsd:string) SubClassOf( ) # Class: (cercarial dermatitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Swimmer%27s_itch"^^xsd:string) Annotation( "https://www.cdc.gov/parasites/swimmersitch/index.html"^^xsd:string) "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9747"^^xsd:string) AnnotationAssertion( "ICD10CM:B65.3"^^xsd:string) AnnotationAssertion( "ICD9CM:120.3"^^xsd:string) AnnotationAssertion( "NCI:C34457"^^xsd:string) AnnotationAssertion( "RDO:9002363"^^xsd:string) AnnotationAssertion( "cutaneous schistosomiasis"^^xsd:string) AnnotationAssertion( "sea bather's eruption"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11302"^^xsd:string) AnnotationAssertion(rdfs:label "cercarial dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mobitz type II atrioventricular block) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:426.12"^^xsd:string) AnnotationAssertion( "NCI:C62018"^^xsd:string) AnnotationAssertion( "RDO:9003342"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:426.12"^^xsd:string) "Mobitz II atrioventricular block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11312"^^xsd:string) AnnotationAssertion(rdfs:label "Mobitz type II atrioventricular block"^^xsd:string) SubClassOf( ) # Class: (African histoplasmosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/eid/content/13/11/1647.htm"^^xsd:string) "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:115.10"^^xsd:string) AnnotationAssertion( "RDO:9002327"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11315"^^xsd:string) AnnotationAssertion(rdfs:label "African histoplasmosis"^^xsd:string) SubClassOf( ) # Class: (histoplasmosis retinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:115.92"^^xsd:string) AnnotationAssertion( "RDO:9002693"^^xsd:string) AnnotationAssertion( "histoplasmosis with retinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11316"^^xsd:string) AnnotationAssertion(rdfs:label "histoplasmosis retinitis"^^xsd:string) SubClassOf( ) # Class: (Kyasanur forest disease) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8257"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.2"^^xsd:string) AnnotationAssertion( "ICD9CM:065.2"^^xsd:string) AnnotationAssertion( "MESH:D007733"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11320"^^xsd:string) AnnotationAssertion(rdfs:label "Kyasanur forest disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (schizophreniform disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schizophreniform_disorder"^^xsd:string) "A psychotic disorder that involves schizophrenia symptoms over time period of one month. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F20.81"^^xsd:string) AnnotationAssertion( "ICD9CM:295.4"^^xsd:string) AnnotationAssertion( "NCI:C94376"^^xsd:string) AnnotationAssertion( "schizophreniform disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11328"^^xsd:string) AnnotationAssertion(rdfs:label "schizophreniform disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ainhum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ainhum"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum"^^xsd:string) "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103400"^^xsd:string) AnnotationAssertion( "GARD:9512"^^xsd:string) AnnotationAssertion( "ICD10CM:L94.6"^^xsd:string) AnnotationAssertion( "ICD9CM:136.0"^^xsd:string) AnnotationAssertion( "MESH:D000387"^^xsd:string) AnnotationAssertion( "NCI:C84544"^^xsd:string) AnnotationAssertion( "dactylolysis spontanea"^^xsd:string) AnnotationAssertion( "spontaneous dactylolyses"^^xsd:string) AnnotationAssertion( "spontaneous dactylolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11329"^^xsd:string) AnnotationAssertion(rdfs:label "ainhum"^^xsd:string) SubClassOf( ) # Class: (erysipelas) AnnotationAssertion(Annotation( "MESH:D004886"^^xsd:string) "An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face."^^xsd:string) AnnotationAssertion( "EFO:1001462"^^xsd:string) AnnotationAssertion( "GARD:6370"^^xsd:string) AnnotationAssertion( "ICD10CM:A46"^^xsd:string) AnnotationAssertion( "ICD9CM:035"^^xsd:string) AnnotationAssertion( "MESH:D004886"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11330"^^xsd:string) AnnotationAssertion(rdfs:label "erysipelas"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sarcoidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sarcoidosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=sarcoidosis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956"^^xsd:string) "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181000"^^xsd:string) AnnotationAssertion( "MIM:612387"^^xsd:string) AnnotationAssertion( "MIM:612388"^^xsd:string) AnnotationAssertion( "EFO:0000690"^^xsd:string) AnnotationAssertion( "GARD:7607"^^xsd:string) AnnotationAssertion( "ICD10CM:D86"^^xsd:string) AnnotationAssertion( "ICD9CM:135"^^xsd:string) AnnotationAssertion( "MESH:D012507"^^xsd:string) AnnotationAssertion( "MONDO:0019338"^^xsd:string) AnnotationAssertion( "NCI:C34995"^^xsd:string) AnnotationAssertion( "ORDO:797"^^xsd:string) AnnotationAssertion( "Besnier Boeck Schaumann Syndrome"^^xsd:string) AnnotationAssertion( "Besnier Boeck disease"^^xsd:string) AnnotationAssertion( "Boeck Disease"^^xsd:string) AnnotationAssertion( "Boeck Sarcoid"^^xsd:string) AnnotationAssertion( "Boeck's Disease"^^xsd:string) AnnotationAssertion( "Boeck's Sarcoid"^^xsd:string) AnnotationAssertion( "Boecks Disease"^^xsd:string) AnnotationAssertion( "Boecks Sarcoid"^^xsd:string) AnnotationAssertion( "Schaumann Disease"^^xsd:string) AnnotationAssertion( "Schaumann syndrome"^^xsd:string) AnnotationAssertion( "Schaumann's Syndrome"^^xsd:string) AnnotationAssertion( "Schaumann's syndromes"^^xsd:string) AnnotationAssertion( "lymphogranulomatosis"^^xsd:string) AnnotationAssertion( "sarcoidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SS1"^^xsd:string) AnnotationAssertion( "SS2"^^xsd:string) AnnotationAssertion( "SS3"^^xsd:string) AnnotationAssertion( "sarcoidosis, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "sarcoidosis, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "sarcoidosis, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:11335"^^xsd:string) AnnotationAssertion(rdfs:label "sarcoidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rhinoscleroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhinoscleroma"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma"^^xsd:string) "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007470"^^xsd:string) AnnotationAssertion( "ICD9CM:040.1"^^xsd:string) AnnotationAssertion( "MESH:D012226"^^xsd:string) AnnotationAssertion( "nasal scleroma"^^xsd:string) AnnotationAssertion( "nasal scleromas"^^xsd:string) AnnotationAssertion( "rhinoscleromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11336"^^xsd:string) AnnotationAssertion(rdfs:label "rhinoscleroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lemierre's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fusobacterium_necrophorum"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis"^^xsd:string) "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6882"^^xsd:string) AnnotationAssertion( "ICD9CM:040.3"^^xsd:string) AnnotationAssertion( "MESH:D057831"^^xsd:string) AnnotationAssertion( "Lemierre disease"^^xsd:string) AnnotationAssertion( "Lemierre syndrome"^^xsd:string) AnnotationAssertion( "Lemierre's disease"^^xsd:string) AnnotationAssertion( "Lemierres disease"^^xsd:string) AnnotationAssertion( "Lemierres syndrome"^^xsd:string) AnnotationAssertion( "human necrobacillosis"^^xsd:string) AnnotationAssertion( "postanginal sepses"^^xsd:string) AnnotationAssertion( "postanginal sepsis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute sore throat"^^xsd:string) AnnotationAssertion( "DOID:11337"^^xsd:string) AnnotationAssertion(rdfs:label "Lemierre's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tetanus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tetanus"^^xsd:string) "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0006683"^^xsd:string) AnnotationAssertion( "EFO:0005593"^^xsd:string) AnnotationAssertion( "GARD:5144"^^xsd:string) AnnotationAssertion( "ICD10CM:A35"^^xsd:string) AnnotationAssertion( "ICD9CM:037"^^xsd:string) AnnotationAssertion( "MESH:D013742"^^xsd:string) AnnotationAssertion( "NCI:C85185"^^xsd:string) AnnotationAssertion( "clostridial tetanus"^^xsd:string) AnnotationAssertion( "infection due to Clostridium tetani"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11338"^^xsd:string) AnnotationAssertion(rdfs:label "tetanus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pneumocystosis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia"^^xsd:string) "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007448"^^xsd:string) AnnotationAssertion( "GARD:4386"^^xsd:string) AnnotationAssertion( "ICD10CM:B59"^^xsd:string) AnnotationAssertion( "ICD9CM:136.3"^^xsd:string) AnnotationAssertion( "MESH:D011020"^^xsd:string) AnnotationAssertion( "NCI:C3334"^^xsd:string) AnnotationAssertion( "Pneumocystis Pneumonias"^^xsd:string) AnnotationAssertion( "Pneumocystis carinii Pneumonia"^^xsd:string) AnnotationAssertion( "Pneumocystis jirovecii pneumonia"^^xsd:string) AnnotationAssertion( "Pneumocystis pneumonia"^^xsd:string) AnnotationAssertion( "Pneumocystoses"^^xsd:string) AnnotationAssertion( "Pneumocystosis pneumonia"^^xsd:string) AnnotationAssertion( "Pneumonia, Interstitial Plasma Cell"^^xsd:string) AnnotationAssertion( "Pneumonias, Pneumocystis carinii"^^xsd:string) AnnotationAssertion( "pulmonary pneumocystosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11339"^^xsd:string) AnnotationAssertion(rdfs:label "pneumocystosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gingival recession) AnnotationAssertion(Annotation( "MESH:D005889"^^xsd:string) "Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)."^^xsd:string) AnnotationAssertion( "ICD10CM:K06.0"^^xsd:string) AnnotationAssertion( "ICD10CM:K06.01"^^xsd:string) AnnotationAssertion( "ICD9CM:523.2"^^xsd:string) AnnotationAssertion( "ICD9CM:523.24"^^xsd:string) AnnotationAssertion( "MESH:D005889"^^xsd:string) AnnotationAssertion( "MONDO:0001268"^^xsd:string) AnnotationAssertion( "NCI:C82068"^^xsd:string) AnnotationAssertion( "Atrophy of Gingiva"^^xsd:string) AnnotationAssertion( "Gingiva Atrophy"^^xsd:string) AnnotationAssertion( "gingiva atrophies"^^xsd:string) AnnotationAssertion( "gingival atrophies"^^xsd:string) AnnotationAssertion( "gingival atrophy"^^xsd:string) AnnotationAssertion( "gingival recessions"^^xsd:string) AnnotationAssertion( "localized gingival recession"^^xsd:string) AnnotationAssertion( "minimal gingival recession"^^xsd:string) AnnotationAssertion( "moderate gingival recession"^^xsd:string) AnnotationAssertion( "severe gingival recession"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1134"^^xsd:string) AnnotationAssertion(rdfs:label "gingival recession"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arcus senilis) AnnotationAssertion(Annotation( "MESH:D001112"^^xsd:string) "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera."^^xsd:string) AnnotationAssertion( "MIM:107800"^^xsd:string) AnnotationAssertion( "EFO:1000818"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.41"^^xsd:string) AnnotationAssertion( "MESH:D001112"^^xsd:string) AnnotationAssertion( "Arcus Corneae"^^xsd:string) AnnotationAssertion( "Corneal Arcus"^^xsd:string) AnnotationAssertion( "arcus of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11342"^^xsd:string) AnnotationAssertion(rdfs:label "arcus senilis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scleral disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717"^^xsd:string) "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H15"^^xsd:string) AnnotationAssertion( "MESH:D015422"^^xsd:string) AnnotationAssertion( "NCI:C79717"^^xsd:string) AnnotationAssertion( "sclera disease"^^xsd:string) AnnotationAssertion( "sclera diseases"^^xsd:string) AnnotationAssertion( "scleral diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11343"^^xsd:string) AnnotationAssertion(rdfs:label "scleral disease"^^xsd:string) SubClassOf( ) # Class: (bladder diverticulum) AnnotationAssertion( "MIM:109820"^^xsd:string) AnnotationAssertion( "ICD10CM:N32.3"^^xsd:string) AnnotationAssertion( "ICD9CM:596.3"^^xsd:string) AnnotationAssertion( "MESH:C562406"^^xsd:string) AnnotationAssertion( "NCI:C160155"^^xsd:string) AnnotationAssertion( "diverticulum of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11353"^^xsd:string) AnnotationAssertion(rdfs:label "bladder diverticulum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stone in bladder diverticulum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:594.0"^^xsd:string) AnnotationAssertion( "calculus in diverticulum of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11354"^^xsd:string) AnnotationAssertion(rdfs:label "stone in bladder diverticulum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder calculus) AnnotationAssertion(Annotation( "MESH:D001744"^^xsd:string) "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths."^^xsd:string) AnnotationAssertion( "EFO:1000839"^^xsd:string) AnnotationAssertion( "ICD10CM:N21.0"^^xsd:string) AnnotationAssertion( "MESH:D001744"^^xsd:string) AnnotationAssertion( "Bladder Stone"^^xsd:string) AnnotationAssertion( "Calculi of Urinary Bladder"^^xsd:string) AnnotationAssertion( "Cystolith"^^xsd:string) AnnotationAssertion( "Cystoliths"^^xsd:string) AnnotationAssertion( "Urinary Bladder Calculi"^^xsd:string) AnnotationAssertion( "Urinary Bladder Calculus"^^xsd:string) AnnotationAssertion( "Urinary Bladder Stone"^^xsd:string) AnnotationAssertion( "Urinary Bladder Stones"^^xsd:string) AnnotationAssertion( "bladder calculi"^^xsd:string) AnnotationAssertion( "bladder stones"^^xsd:string) AnnotationAssertion( "vesical calculi"^^xsd:string) AnnotationAssertion( "vesical calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11355"^^xsd:string) AnnotationAssertion(rdfs:label "bladder calculus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phlebotomus fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pappataci_fever"^^xsd:string) "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007437"^^xsd:string) AnnotationAssertion( "ICD10CM:A93.1"^^xsd:string) AnnotationAssertion( "ICD9CM:066.0"^^xsd:string) AnnotationAssertion( "MESH:D010217"^^xsd:string) AnnotationAssertion( "Pappataci Fever"^^xsd:string) AnnotationAssertion( "Pappataci Fevers"^^xsd:string) AnnotationAssertion( "Phlebotomus Fevers"^^xsd:string) AnnotationAssertion( "Sandfly Fever"^^xsd:string) AnnotationAssertion( "Sandfly Fevers"^^xsd:string) AnnotationAssertion( "sandfly-borne arboviral fever"^^xsd:string) AnnotationAssertion( "sandfly-borne bunyavirus fever"^^xsd:string) AnnotationAssertion( "sandfly-borne phleboviral disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11360"^^xsd:string) AnnotationAssertion(rdfs:label "Phlebotomus fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lens subluxation) AnnotationAssertion(Annotation( "MESH:D007906"^^xsd:string) "Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS."^^xsd:string) AnnotationAssertion( "ICD10CM:H27.11"^^xsd:string) AnnotationAssertion( "ICD9CM:379.32"^^xsd:string) AnnotationAssertion( "MESH:D007906"^^xsd:string) AnnotationAssertion( "NCI:C34772"^^xsd:string) AnnotationAssertion( "RDO:0005444"^^xsd:string) AnnotationAssertion( "Lens Dislocation"^^xsd:string) AnnotationAssertion( "Lens Dislocation and Subluxation"^^xsd:string) AnnotationAssertion( "Lens Dislocations"^^xsd:string) AnnotationAssertion( "Lens Subluxations"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:379.32"^^xsd:string) "Subluxation of lens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11364"^^xsd:string) AnnotationAssertion(rdfs:label "lens subluxation"^^xsd:string) SubClassOf( ) # Class: (congenital aphakia) AnnotationAssertion( "ICD10CM:Q12.3"^^xsd:string) AnnotationAssertion( "ICD9CM:743.35"^^xsd:string) AnnotationAssertion( "MESH:C537786"^^xsd:string) AnnotationAssertion( "NCI:C35172"^^xsd:string) AnnotationAssertion( "CPA"^^xsd:string) AnnotationAssertion( "CPAK"^^xsd:string) AnnotationAssertion( "congenital absence of lens"^^xsd:string) AnnotationAssertion( "congenital primary aphakia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11367"^^xsd:string) AnnotationAssertion(rdfs:label "congenital aphakia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (functional diarrhea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K59.1"^^xsd:string) AnnotationAssertion( "ICD9CM:564.5"^^xsd:string) AnnotationAssertion( "functional diarrhoea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11371"^^xsd:string) AnnotationAssertion(rdfs:label "functional diarrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megacolon) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Megacolon"^^xsd:string) "A colonic disease that is characterized by an abnormal dilation of the colon. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K59.39"^^xsd:string) AnnotationAssertion( "MESH:D008531"^^xsd:string) AnnotationAssertion( "NCI:C34810"^^xsd:string) AnnotationAssertion( "dilatation of colon"^^xsd:string) AnnotationAssertion( "megacolons"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11372"^^xsd:string) AnnotationAssertion(rdfs:label "megacolon"^^xsd:string) SubClassOf( ) # Class: (anal spasm) AnnotationAssertion( "ICD10CM:K59.4"^^xsd:string) AnnotationAssertion( "ICD9CM:564.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11374"^^xsd:string) AnnotationAssertion(rdfs:label "anal spasm"^^xsd:string) SubClassOf( ) # Class: (gnathomiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007289"^^xsd:string) AnnotationAssertion( "GARD:9286"^^xsd:string) AnnotationAssertion( "ICD10CM:B83.1"^^xsd:string) AnnotationAssertion( "ICD9CM:128.1"^^xsd:string) AnnotationAssertion( "MESH:D058429"^^xsd:string) AnnotationAssertion( "NCI:C128395"^^xsd:string) AnnotationAssertion( "gnathostoma infection"^^xsd:string) AnnotationAssertion( "gnathostoma infections"^^xsd:string) AnnotationAssertion( "gnathostomiases"^^xsd:string) AnnotationAssertion( "gnathostomiasis"^^xsd:string) AnnotationAssertion( "infectious disease by gnathostoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11379"^^xsd:string) AnnotationAssertion(rdfs:label "gnathomiasis"^^xsd:string) SubClassOf( ) # Class: (spinal meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10264"^^xsd:string) AnnotationAssertion( "NCI:C6935"^^xsd:string) AnnotationAssertion( "spinal cord meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1138"^^xsd:string) AnnotationAssertion(rdfs:label "spinal meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal neovascularization) AnnotationAssertion(Annotation( "MESH:D016510"^^xsd:string) "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "EFO:1000880"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.4"^^xsd:string) AnnotationAssertion( "ICD9CM:370.6"^^xsd:string) AnnotationAssertion( "MESH:D016510"^^xsd:string) AnnotationAssertion( "RDO:0006962"^^xsd:string) AnnotationAssertion( "Corneal Angiogenesis"^^xsd:string) AnnotationAssertion( "Corneal Neovascularizations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11382"^^xsd:string) AnnotationAssertion(rdfs:label "corneal neovascularization"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cryptorchidism) AnnotationAssertion(Annotation( "MESH:D003456"^^xsd:string) "A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis."^^xsd:string) AnnotationAssertion( "MIM:219050"^^xsd:string) AnnotationAssertion( "EFO:0004562"^^xsd:string) AnnotationAssertion( "ICD10CM:Q53.9"^^xsd:string) AnnotationAssertion( "ICD9CM:752.51"^^xsd:string) AnnotationAssertion( "MESH:D003456"^^xsd:string) AnnotationAssertion( "NCI:C12326"^^xsd:string) AnnotationAssertion( "Abdominal Cryptorchidism"^^xsd:string) AnnotationAssertion( "Bilateral Cryptorchidism"^^xsd:string) AnnotationAssertion( "Cryptorchidism, Unilateral Or Bilateral"^^xsd:string) AnnotationAssertion( "Cryptorchism"^^xsd:string) AnnotationAssertion( "Inguinal Cryptorchidism"^^xsd:string) AnnotationAssertion( "Undescended Testes"^^xsd:string) AnnotationAssertion( "Undescended Testis"^^xsd:string) AnnotationAssertion( "Unilateral Cryptorchidism"^^xsd:string) AnnotationAssertion( "undescended testicle"^^xsd:string) AnnotationAssertion( "undescended testicles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11383"^^xsd:string) AnnotationAssertion(rdfs:label "cryptorchidism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (expressive language disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Expressive_language_disorder"^^xsd:string) "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:315.31"^^xsd:string) AnnotationAssertion( "NCI:C92562"^^xsd:string) AnnotationAssertion( "RDO:9003879"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:268734000"^^xsd:string) "Developmental expressive language disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11385"^^xsd:string) AnnotationAssertion(rdfs:label "expressive language disorder"^^xsd:string) SubClassOf( ) # Class: (epidural abscess) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm"^^xsd:string) "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007260"^^xsd:string) AnnotationAssertion( "MESH:D020802"^^xsd:string) AnnotationAssertion( "Cranial Epidural Abscess"^^xsd:string) AnnotationAssertion( "Cranial Extradural Abscess"^^xsd:string) AnnotationAssertion( "Extradural Abscess"^^xsd:string) AnnotationAssertion( "Intracranial Epidural Abscess"^^xsd:string) AnnotationAssertion( "Intracranial Extradural Abscess"^^xsd:string) AnnotationAssertion( "Spinal Epidural Abscess"^^xsd:string) AnnotationAssertion( "intracranial extradural abscesses"^^xsd:string) AnnotationAssertion( "spinal extradural abscess"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11387"^^xsd:string) AnnotationAssertion(rdfs:label "epidural abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (subdural empyema) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Subdural_empyema"^^xsd:string) "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001196"^^xsd:string) AnnotationAssertion( "MESH:D013354"^^xsd:string) AnnotationAssertion( "subdural abscess"^^xsd:string) AnnotationAssertion( "subdural abscess, intracranial"^^xsd:string) AnnotationAssertion( "subdural empyemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11389"^^xsd:string) AnnotationAssertion(rdfs:label "subdural empyema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral arteritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:437.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11390"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral arteritis"^^xsd:string) SubClassOf( ) # Class: (adult respiratory distress syndrome) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/"^^xsd:string) "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000637"^^xsd:string) AnnotationAssertion( "GARD:5698"^^xsd:string) AnnotationAssertion( "ICD10CM:J80"^^xsd:string) AnnotationAssertion( "MESH:D012128"^^xsd:string) AnnotationAssertion( "NCI:C3353"^^xsd:string) AnnotationAssertion( "ARDS"^^xsd:string) AnnotationAssertion( "ARDSs, Human"^^xsd:string) AnnotationAssertion( "Acute Respiratory Distress Syndrome"^^xsd:string) AnnotationAssertion( "Human ARDS"^^xsd:string) AnnotationAssertion( "Shock Lung"^^xsd:string) AnnotationAssertion( "adult RDS"^^xsd:string) AnnotationAssertion( "non-cardiogenic pulmonary edema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11394"^^xsd:string) AnnotationAssertion(rdfs:label "adult respiratory distress syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary edema) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11357010/"^^xsd:string) "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001134"^^xsd:string) AnnotationAssertion( "ICD10CM:J81"^^xsd:string) AnnotationAssertion( "ICD10CM:J81.1"^^xsd:string) AnnotationAssertion( "MESH:D011654"^^xsd:string) AnnotationAssertion( "NCI:C26868"^^xsd:string) AnnotationAssertion( "Pulmonary Edemas"^^xsd:string) AnnotationAssertion( "Wet Lung"^^xsd:string) AnnotationAssertion( "Wet Lungs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11396"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary edema"^^xsd:string) SubClassOf( ) # Class: (heart disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string) "A cardiovascular system disease that involves the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003777"^^xsd:string) AnnotationAssertion( "HP:0005120"^^xsd:string) AnnotationAssertion( "ICD10CM:I51.9"^^xsd:string) AnnotationAssertion( "ICD9CM:429.9"^^xsd:string) AnnotationAssertion( "MESH:D006331"^^xsd:string) AnnotationAssertion( "NCI:C3079"^^xsd:string) AnnotationAssertion( "cardiac disease"^^xsd:string) AnnotationAssertion( "cardiac diseases"^^xsd:string) AnnotationAssertion( "heart diseases"^^xsd:string) AnnotationAssertion( "Abnormal cardiac atrium morphology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:114"^^xsd:string) AnnotationAssertion(rdfs:label "heart disease"^^xsd:string) SubClassOf( ) # Class: (spinal canal and spinal cord meningioma) AnnotationAssertion( "NCI:C5134"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1140"^^xsd:string) AnnotationAssertion(rdfs:label "spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyelonephritis) AnnotationAssertion(Annotation( "MESH:D011704"^^xsd:string) "Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA."^^xsd:string) AnnotationAssertion( "EFO:1001141"^^xsd:string) AnnotationAssertion( "ICD10CM:N16"^^xsd:string) AnnotationAssertion( "ICD9CM:590.80"^^xsd:string) AnnotationAssertion( "MESH:D011704"^^xsd:string) AnnotationAssertion( "NCI:C34965"^^xsd:string) AnnotationAssertion( "Necrotizing Pyelonephritis"^^xsd:string) AnnotationAssertion( "Pyelonephritides"^^xsd:string) AnnotationAssertion( "Pyelonephritis, Acute Necrotizing"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11400"^^xsd:string) AnnotationAssertion(rdfs:label "pyelonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (xanthogranulomatous pyelonephritis) AnnotationAssertion(Annotation( "MESH:D011705"^^xsd:string) "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES."^^xsd:string) AnnotationAssertion( "EFO:1001244"^^xsd:string) AnnotationAssertion( "MESH:D011705"^^xsd:string) AnnotationAssertion( "NCI:C123038"^^xsd:string) AnnotationAssertion( "Xanthogranulomatous Pyelonephritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11401"^^xsd:string) AnnotationAssertion(rdfs:label "xanthogranulomatous pyelonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diphtheria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diphtheria"^^xsd:string) "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005549"^^xsd:string) AnnotationAssertion( "GARD:1875"^^xsd:string) AnnotationAssertion( "MESH:D004165"^^xsd:string) AnnotationAssertion( "corynebacterium infection"^^xsd:string) AnnotationAssertion( "diphtherias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11405"^^xsd:string) AnnotationAssertion(rdfs:label "diphtheria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroiditis) AnnotationAssertion(Annotation( "MESH:D002833"^^xsd:string) "Inflammation of the choroid."^^xsd:string) AnnotationAssertion( "GARD:6062"^^xsd:string) AnnotationAssertion( "ICD10CM:H30.9"^^xsd:string) AnnotationAssertion( "MESH:D002833"^^xsd:string) AnnotationAssertion( "choroiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11406"^^xsd:string) AnnotationAssertion(rdfs:label "choroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alternating exotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.15"^^xsd:string) AnnotationAssertion( "ICD9CM:378.15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1142"^^xsd:string) AnnotationAssertion(rdfs:label "alternating exotropia"^^xsd:string) SubClassOf( ) # Class: (fallopian tube endometriosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.2"^^xsd:string) AnnotationAssertion( "ICD9CM:617.2"^^xsd:string) AnnotationAssertion( "NCI:C26763"^^xsd:string) AnnotationAssertion( "endometriosis of fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11424"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube endometriosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endosalpingiosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endosalpingiosis"^^xsd:string) "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C179646"^^xsd:string) AnnotationAssertion( "NCI:C40121"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11427"^^xsd:string) AnnotationAssertion(rdfs:label "endosalpingiosis"^^xsd:string) SubClassOf( ) # Class: (endometriosis of intestine) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.5"^^xsd:string) AnnotationAssertion( "ICD9CM:617.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11428"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis of intestine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometriosis of pelvic peritoneum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.3"^^xsd:string) AnnotationAssertion( "ICD9CM:617.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11429"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis of pelvic peritoneum"^^xsd:string) SubClassOf( ) # Class: (exotropia) AnnotationAssertion(Annotation( "MESH:D005099"^^xsd:string) "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction."^^xsd:string) AnnotationAssertion( "ICD10CM:H50.1"^^xsd:string) AnnotationAssertion( "ICD9CM:378.1"^^xsd:string) AnnotationAssertion( "MESH:D005099"^^xsd:string) AnnotationAssertion( "NCI:C34601"^^xsd:string) AnnotationAssertion( "divergent concomitant strabismus"^^xsd:string) AnnotationAssertion( "divergent strabismus"^^xsd:string) AnnotationAssertion( "exodeviation"^^xsd:string) AnnotationAssertion( "exodeviations"^^xsd:string) AnnotationAssertion( "exophoria"^^xsd:string) AnnotationAssertion( "primary exotropia"^^xsd:string) AnnotationAssertion( "secondary exotropia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1143"^^xsd:string) AnnotationAssertion(rdfs:label "exotropia"^^xsd:string) SubClassOf( ) # Class: (endometriosis in scar of skin) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.6"^^xsd:string) AnnotationAssertion( "ICD9CM:617.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11430"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis in scar of skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometriosis of rectovaginal septum and vagina) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.4"^^xsd:string) AnnotationAssertion( "ICD9CM:617.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11431"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis of rectovaginal septum and vagina"^^xsd:string) SubClassOf( ) # Class: (endometriosis of ovary) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000418"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:617.1"^^xsd:string) AnnotationAssertion( "NCI:C27628"^^xsd:string) AnnotationAssertion( "ovarian endometriosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11432"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis of ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sciatic neuropathy) AnnotationAssertion(Annotation( "MESH:D020426"^^xsd:string) "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"^^xsd:string) AnnotationAssertion( "EFO:1001166"^^xsd:string) AnnotationAssertion( "MESH:D020426"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Disease"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Injuries"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Injury"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Neuralgia-Neuritides"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Neuralgia-Neuritis"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Palsies"^^xsd:string) AnnotationAssertion( "Sciatic Nerve Palsy"^^xsd:string) AnnotationAssertion( "Sciatic Neuritides"^^xsd:string) AnnotationAssertion( "Sciatic Neuritis"^^xsd:string) AnnotationAssertion( "sciatic nerve diseases"^^xsd:string) AnnotationAssertion( "sciatic neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Sciatic Inflammatory Neuropathy"^^xsd:string) AnnotationAssertion( "DOID:11446"^^xsd:string) AnnotationAssertion(rdfs:label "sciatic neuropathy"^^xsd:string) SubClassOf( ) # Class: (allergic cutaneous vasculitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000874.htm"^^xsd:string) "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D018366"^^xsd:string) AnnotationAssertion( "Allergic Cutaneous Angiitis"^^xsd:string) AnnotationAssertion( "Cutaneous Leukocytoclastic Angiitides"^^xsd:string) AnnotationAssertion( "Cutaneous Leukocytoclastic Angiitis"^^xsd:string) AnnotationAssertion( "Cutaneous Leukocytoclastic Vasculitides"^^xsd:string) AnnotationAssertion( "allergic cutaneous angiitides"^^xsd:string) AnnotationAssertion( "allergic cutaneous vasculitides"^^xsd:string) AnnotationAssertion( "autoimmune hypersensitivity angiitis"^^xsd:string) AnnotationAssertion( "cutaneous leukocytoclastic vasculitis"^^xsd:string) AnnotationAssertion( "hypersensitivity angiitides"^^xsd:string) AnnotationAssertion( "hypersensitivity angiitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11450"^^xsd:string) AnnotationAssertion(rdfs:label "allergic cutaneous vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perinatal jaundice due to hepatocellular damage) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000750"^^xsd:string) AnnotationAssertion( "ICD9CM:774.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11452"^^xsd:string) AnnotationAssertion(rdfs:label "perinatal jaundice due to hepatocellular damage"^^xsd:string) SubClassOf( ) # Class: (brain compression) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brain_herniation"^^xsd:string) "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.5"^^xsd:string) AnnotationAssertion( "ICD9CM:348.4"^^xsd:string) AnnotationAssertion( "cerebellar compression"^^xsd:string) AnnotationAssertion( "cerebral compression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11457"^^xsd:string) AnnotationAssertion(rdfs:label "brain compression"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pseudotumor cerebri) AnnotationAssertion(Annotation( "MESH:D011559"^^xsd:string) "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)."^^xsd:string) AnnotationAssertion( "MIM:243200"^^xsd:string) AnnotationAssertion( "EFO:1001132"^^xsd:string) AnnotationAssertion( "GARD:4561"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.2"^^xsd:string) AnnotationAssertion( "ICD9CM:348.2"^^xsd:string) AnnotationAssertion( "MESH:D011559"^^xsd:string) AnnotationAssertion( "NCI:C85035"^^xsd:string) AnnotationAssertion( "benign intracranial hypertension"^^xsd:string) AnnotationAssertion( "idiopathic intracranial hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11459"^^xsd:string) AnnotationAssertion(rdfs:label "pseudotumor cerebri"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autonomic nervous system disease) AnnotationAssertion(Annotation( "MESH:D001342"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27339825/"^^xsd:string) "A peripheral nervous system disease that is located_in the autonomic nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009532"^^xsd:string) AnnotationAssertion( "ICD9CM:337.1"^^xsd:string) AnnotationAssertion( "MESH:D001342"^^xsd:string) AnnotationAssertion( "ANS (autonomic nervous system) diseases"^^xsd:string) AnnotationAssertion( "ANS Disease"^^xsd:string) AnnotationAssertion( "ANS diseases"^^xsd:string) AnnotationAssertion( "AUTONOMIC NERVOUS SYSTEM DYSFUNCTION"^^xsd:string) AnnotationAssertion( "Autonomic Central Nervous System Diseases"^^xsd:string) AnnotationAssertion( "Autonomic Disease"^^xsd:string) AnnotationAssertion( "Autonomic Diseases"^^xsd:string) AnnotationAssertion( "Autonomic Nervous System Disorders"^^xsd:string) AnnotationAssertion( "Autonomic Peripheral Nervous System Diseases"^^xsd:string) AnnotationAssertion( "Disorders of the Autonomic Nervous System"^^xsd:string) AnnotationAssertion( "autonomic nervous system diseases"^^xsd:string) AnnotationAssertion( "autonomic nervous system disorder"^^xsd:string) AnnotationAssertion( "parasympathetic nervous system diseases"^^xsd:string) AnnotationAssertion( "segmental autonomic dysfunction"^^xsd:string) AnnotationAssertion( "segmental autonomic dysfunctions"^^xsd:string) AnnotationAssertion( "sympathetic nervous system diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11465"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic nervous system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subglottis cancer) AnnotationAssertion( "ICD10CM:C32.2"^^xsd:string) AnnotationAssertion( "ICD9CM:161.2"^^xsd:string) AnnotationAssertion( "NCI:C3546"^^xsd:string) AnnotationAssertion( "Ca larynx - subglottis"^^xsd:string) AnnotationAssertion( "malignant subglottic tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363430007"^^xsd:string) "malignant tumor of subglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11472"^^xsd:string) AnnotationAssertion(rdfs:label "subglottis cancer"^^xsd:string) SubClassOf( ) # Class: (osteoporosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteoporosis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osteoporosis/DS00128"^^xsd:string) Annotation( "http://www.niams.nih.gov/Health_Info/Bone/default.asp"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm"^^xsd:string) "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166710"^^xsd:string) AnnotationAssertion( "WNT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0003882"^^xsd:string) AnnotationAssertion( "ICD10CM:M81.0"^^xsd:string) AnnotationAssertion( "ICD9CM:733.0"^^xsd:string) AnnotationAssertion( "MESH:D010024"^^xsd:string) AnnotationAssertion( "NCI:C3298"^^xsd:string) AnnotationAssertion( "Osteoporoses"^^xsd:string) AnnotationAssertion( "age related osteoporosis"^^xsd:string) AnnotationAssertion( "age-related bone loss"^^xsd:string) AnnotationAssertion( "age-related bone losses"^^xsd:string) AnnotationAssertion( "age-related osteoporoses"^^xsd:string) AnnotationAssertion( "involutional osteoporosis"^^xsd:string) AnnotationAssertion( "post-traumatic osteoporoses"^^xsd:string) AnnotationAssertion( "post-traumatic osteoporosis"^^xsd:string) AnnotationAssertion( "senile osteoporoses"^^xsd:string) AnnotationAssertion( "senile osteoporosis"^^xsd:string) AnnotationAssertion( "LRP5-RELATED PRIMARY OSTEOPOROSIS"^^xsd:string) AnnotationAssertion( "X-LINKED OSTEOPOROSIS WITH FRACTURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FRACTURE, HIP, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "OSTEOPOROSIS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:11476"^^xsd:string) AnnotationAssertion(rdfs:label "osteoporosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polydactyly) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polydactyly"^^xsd:string) "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603596"^^xsd:string) AnnotationAssertion( "GARD:4410"^^xsd:string) AnnotationAssertion( "ICD10CM:Q69"^^xsd:string) AnnotationAssertion( "ICD10CM:Q69.9"^^xsd:string) AnnotationAssertion( "ICD9CM:755.0"^^xsd:string) AnnotationAssertion( "MESH:D017689"^^xsd:string) AnnotationAssertion( "NCI:C87110"^^xsd:string) AnnotationAssertion( "Polydactylia"^^xsd:string) AnnotationAssertion( "hyperdactylies"^^xsd:string) AnnotationAssertion( "hyperdactyly"^^xsd:string) AnnotationAssertion( "polydactylias"^^xsd:string) AnnotationAssertion( "polydactylies"^^xsd:string) AnnotationAssertion( "polydactylism"^^xsd:string) AnnotationAssertion( "polydactylisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "supernumerary digit"^^xsd:string) AnnotationAssertion( "DOID:1148"^^xsd:string) AnnotationAssertion(rdfs:label "polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (constrictive pericarditis) AnnotationAssertion(Annotation( "MESH:D010494"^^xsd:string) "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS."^^xsd:string) AnnotationAssertion( "EFO:1000878"^^xsd:string) AnnotationAssertion( "ICD9CM:423.2"^^xsd:string) AnnotationAssertion( "MESH:D010494"^^xsd:string) AnnotationAssertion( "NCI:C78246"^^xsd:string) AnnotationAssertion( "Constrictive Pericarditides"^^xsd:string) AnnotationAssertion( "Heart Pick's Disease"^^xsd:string) AnnotationAssertion( "Pick Disease of Heart"^^xsd:string) AnnotationAssertion( "Pick Disease, Heart"^^xsd:string) AnnotationAssertion( "Pick's Disease of Heart"^^xsd:string) AnnotationAssertion( "Picks Disease, Heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11481"^^xsd:string) AnnotationAssertion(rdfs:label "constrictive pericarditis"^^xsd:string) SubClassOf( ) # Class: (hemopericardium) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemopericardium"^^xsd:string) "A pericardial effusion that results from blood in the pericardial sac. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007298"^^xsd:string) AnnotationAssertion( "ICD9CM:423.0"^^xsd:string) AnnotationAssertion( "NCI:C111644"^^xsd:string) AnnotationAssertion( "haemopericardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11482"^^xsd:string) AnnotationAssertion(rdfs:label "hemopericardium"^^xsd:string) SubClassOf( ) # Class: (Horner's syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/14610154/"^^xsd:string) "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143000"^^xsd:string) AnnotationAssertion( "GARD:6670"^^xsd:string) AnnotationAssertion( "ICD10CM:G90.2"^^xsd:string) AnnotationAssertion( "MESH:D006732"^^xsd:string) AnnotationAssertion( "NCI:C28155"^^xsd:string) AnnotationAssertion( "Acquired Horner Syndrome"^^xsd:string) AnnotationAssertion( "Bernard Horner syndrome"^^xsd:string) AnnotationAssertion( "Bernard Syndrome"^^xsd:string) AnnotationAssertion( "Bernard Syndromes"^^xsd:string) AnnotationAssertion( "Bernard's Syndrome"^^xsd:string) AnnotationAssertion( "Bernards Syndrome"^^xsd:string) AnnotationAssertion( "Central Horner Syndrome"^^xsd:string) AnnotationAssertion( "Claude Bernard Horner Syndrome"^^xsd:string) AnnotationAssertion( "Horner Syndrome, Pupil"^^xsd:string) AnnotationAssertion( "Horner syndrome"^^xsd:string) AnnotationAssertion( "Horners Syndrome"^^xsd:string) AnnotationAssertion( "Horners Syndrome, Pupil"^^xsd:string) AnnotationAssertion( "Miosis, Innervational Defect"^^xsd:string) AnnotationAssertion( "Oculosympathetic Syndrome"^^xsd:string) AnnotationAssertion( "Oculosympathetic Syndromes"^^xsd:string) AnnotationAssertion( "Ptosis Sympathetic"^^xsd:string) AnnotationAssertion( "Pupil Horner's Syndrome"^^xsd:string) AnnotationAssertion( "Sympathetic Ocular Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "Sympathetic Ocular Ophthalmoplegias"^^xsd:string) AnnotationAssertion( "cervical sympathetic paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11486"^^xsd:string) AnnotationAssertion(rdfs:label "Horner's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (idiopathic peripheral autonomic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G90.0"^^xsd:string) AnnotationAssertion( "ICD9CM:337.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11488"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic peripheral autonomic neuropathy"^^xsd:string) SubClassOf( ) # Class: (acquired night blindness) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nyctalopia"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Vitamin_A_deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25804276"^^xsd:string) "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.62"^^xsd:string) AnnotationAssertion( "ICD9CM:368.62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11491"^^xsd:string) AnnotationAssertion(rdfs:label "acquired night blindness"^^xsd:string) SubClassOf( ) # Class: (cardiac tamponade) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiac_tamponade"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm"^^xsd:string) "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001285"^^xsd:string) AnnotationAssertion( "ICD10CM:I31.4"^^xsd:string) AnnotationAssertion( "ICD9CM:423.3"^^xsd:string) AnnotationAssertion( "MESH:D002305"^^xsd:string) AnnotationAssertion( "NCI:C50481"^^xsd:string) AnnotationAssertion( "Pericardial Tamponade"^^xsd:string) AnnotationAssertion( "Rose's tamponade"^^xsd:string) AnnotationAssertion( "cardiac tamponades"^^xsd:string) AnnotationAssertion( "pericardial tamponades"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:115"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac tamponade"^^xsd:string) SubClassOf( ) # Class: (mitral valve insufficiency) AnnotationAssertion(Annotation( "MESH:D008944"^^xsd:string) "Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation."^^xsd:string) AnnotationAssertion( "EFO:0009539"^^xsd:string) AnnotationAssertion( "ICD10CM:Q23.3"^^xsd:string) AnnotationAssertion( "ICD9CM:396.3"^^xsd:string) AnnotationAssertion( "ICD9CM:746.6"^^xsd:string) AnnotationAssertion( "MESH:D008944"^^xsd:string) AnnotationAssertion( "NCI:C50852"^^xsd:string) AnnotationAssertion( "NCI:C50888"^^xsd:string) AnnotationAssertion( "congenital insufficiency of mitral valve"^^xsd:string) AnnotationAssertion( "congenital mitral insufficiency"^^xsd:string) AnnotationAssertion( "congenital mitral malformation"^^xsd:string) AnnotationAssertion( "congenital mitral regurgitation"^^xsd:string) AnnotationAssertion( "mitral incompetence"^^xsd:string) AnnotationAssertion( "mitral insufficiency"^^xsd:string) AnnotationAssertion( "mitral regurgitation"^^xsd:string) AnnotationAssertion( "mitral valve incompetence"^^xsd:string) AnnotationAssertion( "mitral valve regurgitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11502"^^xsd:string) AnnotationAssertion(rdfs:label "mitral valve insufficiency"^^xsd:string) SubClassOf( ) # Class: (diabetic autonomic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27068"^^xsd:string) AnnotationAssertion( "diabetic autonomic neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11503"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic autonomic neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autonomic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27033"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11504"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic neuropathy"^^xsd:string) SubClassOf( ) # Class: (suppurative otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false"^^xsd:string) "A otitis media which involves inflammation of the middle ear with infected effusion containing pus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007503"^^xsd:string) AnnotationAssertion( "ICD10CM:H66.4"^^xsd:string) AnnotationAssertion( "ICD9CM:382.4"^^xsd:string) AnnotationAssertion( "MESH:D010035"^^xsd:string) AnnotationAssertion( "Purulent Otitis Media"^^xsd:string) AnnotationAssertion( "otitis media with effusion - purulent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11506"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative otitis media"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rumination disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rumination_syndrome"^^xsd:string) "An eating disorder that is characterized by effortless regurgitation of most meals following consumption. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D019959"^^xsd:string) AnnotationAssertion( "GARD:7594"^^xsd:string) AnnotationAssertion( "ICD9CM:307.53"^^xsd:string) AnnotationAssertion( "MESH:D000079562"^^xsd:string) AnnotationAssertion( "NCI:C92567"^^xsd:string) AnnotationAssertion( "Feeding and Eating Disorders of Childhood"^^xsd:string) AnnotationAssertion( "childhood eating and feeding disorders"^^xsd:string) AnnotationAssertion( "psychogenic rumination"^^xsd:string) AnnotationAssertion( "rumination disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11507"^^xsd:string) AnnotationAssertion(rdfs:label "rumination disorder"^^xsd:string) SubClassOf( ) # Class: (Budd-Chiari syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16971261/"^^xsd:string) "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600880"^^xsd:string) AnnotationAssertion( "ICD10CM:I82.0"^^xsd:string) AnnotationAssertion( "MESH:D006502"^^xsd:string) AnnotationAssertion( "BDCHS"^^xsd:string) AnnotationAssertion( "Chiari Syndrome"^^xsd:string) AnnotationAssertion( "Chiari's syndrome"^^xsd:string) AnnotationAssertion( "Chiaris syndrome"^^xsd:string) AnnotationAssertion( "Hepatic Vein Thromboses"^^xsd:string) AnnotationAssertion( "Hepatic Vein Thrombosis"^^xsd:string) AnnotationAssertion( "hepatic venous outflow obstruction"^^xsd:string) AnnotationAssertion( "MOVC"^^xsd:string) AnnotationAssertion( "membranous obstruction of inferior vena cava"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11512"^^xsd:string) AnnotationAssertion(rdfs:label "Budd-Chiari syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fissured tongue) AnnotationAssertion(Annotation( "MESH:D014063"^^xsd:string) "The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE."^^xsd:string) AnnotationAssertion( "MESH:C564239"^^xsd:string) AnnotationAssertion( "ICD10CM:K14.5"^^xsd:string) AnnotationAssertion( "ICD9CM:529.5"^^xsd:string) AnnotationAssertion( "MESH:D014063"^^xsd:string) AnnotationAssertion( "Furrowed Tongue"^^xsd:string) AnnotationAssertion( "Furrowed Tongues"^^xsd:string) AnnotationAssertion( "Lingua Plicata"^^xsd:string) AnnotationAssertion( "Lingua Plicatas"^^xsd:string) AnnotationAssertion( "congenital fissure of tongue"^^xsd:string) AnnotationAssertion( "congenital plicated tongue"^^xsd:string) AnnotationAssertion( "fissure of tongue"^^xsd:string) AnnotationAssertion( "fissured tongues"^^xsd:string) AnnotationAssertion( "geographic tongue and fissured tongue"^^xsd:string) AnnotationAssertion( "plicated tongue"^^xsd:string) AnnotationAssertion( "scrotal tongue"^^xsd:string) AnnotationAssertion( "scrotal tongues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11514"^^xsd:string) AnnotationAssertion(rdfs:label "fissured tongue"^^xsd:string) SubClassOf( ) # Class: (hypertensive heart disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Hypertensive_heart_disease"^^xsd:string) "A heart disease that is caused by high blood pressure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I11"^^xsd:string) AnnotationAssertion( "ICD9CM:402"^^xsd:string) AnnotationAssertion( "NCI:C157879"^^xsd:string) AnnotationAssertion( "RDO:9002669"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11516"^^xsd:string) AnnotationAssertion(rdfs:label "hypertensive heart disease"^^xsd:string) SubClassOf( ) # Class: (abnormal pupillary function) AnnotationAssertion( "ICD10CM:H57.09"^^xsd:string) AnnotationAssertion( "ICD9CM:379.49"^^xsd:string) AnnotationAssertion( "abnormal pupillary functions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11518"^^xsd:string) AnnotationAssertion(rdfs:label "abnormal pupillary function"^^xsd:string) SubClassOf( ) # Class: (benign hypertensive renal disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:403.1"^^xsd:string) AnnotationAssertion( "RDO:9003035"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:403.10"^^xsd:string) "hypertensive renal disease, benign, without mention of renal failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11520"^^xsd:string) AnnotationAssertion(rdfs:label "benign hypertensive renal disease"^^xsd:string) SubClassOf( ) # Class: (laryngostenosis) AnnotationAssertion(Annotation( "MESH:D007829"^^xsd:string) "Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing."^^xsd:string) AnnotationAssertion( "ICD10CM:J38.6"^^xsd:string) AnnotationAssertion( "ICD9CM:478.74"^^xsd:string) AnnotationAssertion( "MESH:D007829"^^xsd:string) AnnotationAssertion( "NCI:C79608"^^xsd:string) AnnotationAssertion( "Acquired Laryngeal Stenosis"^^xsd:string) AnnotationAssertion( "Acquired Subglottic Stenoses"^^xsd:string) AnnotationAssertion( "Acquired Subglottic Stenosis"^^xsd:string) AnnotationAssertion( "Congenital Subglottic Stenoses"^^xsd:string) AnnotationAssertion( "Congenital Subglottic Stenosis"^^xsd:string) AnnotationAssertion( "Laryngeal Stenoses"^^xsd:string) AnnotationAssertion( "Laryngeal Stenosis"^^xsd:string) AnnotationAssertion( "acquired laryngeal stenoses"^^xsd:string) AnnotationAssertion( "laryngostenoses"^^xsd:string) AnnotationAssertion( "stenosis of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11527"^^xsd:string) AnnotationAssertion(rdfs:label "laryngostenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (recurrent corneal erosion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.83"^^xsd:string) AnnotationAssertion( "ICD9CM:371.42"^^xsd:string) AnnotationAssertion( "recurrent erosion of cornea"^^xsd:string) AnnotationAssertion( "recurrent erosion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11541"^^xsd:string) AnnotationAssertion(rdfs:label "recurrent corneal erosion"^^xsd:string) SubClassOf( ) # Class: (corneal abscess) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.31"^^xsd:string) AnnotationAssertion( "ICD9CM:370.55"^^xsd:string) AnnotationAssertion( "NCI:C26969"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11543"^^xsd:string) AnnotationAssertion(rdfs:label "corneal abscess"^^xsd:string) SubClassOf( ) # Class: (corneal deposit) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.00"^^xsd:string) AnnotationAssertion( "ICD9CM:371.10"^^xsd:string) AnnotationAssertion( "cornea deposits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11547"^^xsd:string) AnnotationAssertion(rdfs:label "corneal deposit"^^xsd:string) SubClassOf( ) # Class: (Adie syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adie_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome"^^xsd:string) "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531601"^^xsd:string) AnnotationAssertion( "MIM:103100"^^xsd:string) AnnotationAssertion( "EFO:0004126"^^xsd:string) AnnotationAssertion( "GARD:5749"^^xsd:string) AnnotationAssertion( "MESH:D000270"^^xsd:string) AnnotationAssertion( "NCI:C34357"^^xsd:string) AnnotationAssertion( "Adie's pupil or syndrome"^^xsd:string) AnnotationAssertion( "Adie's pupil syndrome"^^xsd:string) AnnotationAssertion( "Adie's syndrome"^^xsd:string) AnnotationAssertion( "Holmes Adie syndrome"^^xsd:string) AnnotationAssertion( "poorly reacting pupil"^^xsd:string) AnnotationAssertion( "poorly reacting pupils"^^xsd:string) AnnotationAssertion( "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11549"^^xsd:string) AnnotationAssertion(rdfs:label "Adie syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculomotor nerve paralysis) AnnotationAssertion( "ICD10CM:H49.0"^^xsd:string) AnnotationAssertion( "NCI:C27597"^^xsd:string) AnnotationAssertion( "III nerve palsy"^^xsd:string) AnnotationAssertion( "IIIrd nerve Paralysis"^^xsd:string) AnnotationAssertion( "Third cranial nerve paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11550"^^xsd:string) AnnotationAssertion(rdfs:label "oculomotor nerve paralysis"^^xsd:string) SubClassOf( ) # Class: (Bowman's membrane folds or rupture) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.31"^^xsd:string) AnnotationAssertion( "ICD9CM:371.31"^^xsd:string) AnnotationAssertion( "RDO:9003417"^^xsd:string) AnnotationAssertion( "Bowman membrane folds or rupture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11552"^^xsd:string) AnnotationAssertion(rdfs:label "Bowman's membrane folds or rupture"^^xsd:string) SubClassOf( ) # Class: (Chandler syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome"^^xsd:string) "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "Chandler's syndrome"^^xsd:string) AnnotationAssertion( "Chandlers syndrome"^^xsd:string) AnnotationAssertion( "endothelial corneal dystrophy"^^xsd:string) AnnotationAssertion( "posterior membrane corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11554"^^xsd:string) AnnotationAssertion(rdfs:label "Chandler syndrome"^^xsd:string) SubClassOf( ) # Class: (Fuchs' endothelial dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fuchs%27_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956"^^xsd:string) "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003946"^^xsd:string) AnnotationAssertion( "GARD:10018"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.51"^^xsd:string) AnnotationAssertion( "MESH:D005642"^^xsd:string) AnnotationAssertion( "MIM:PS136800"^^xsd:string) AnnotationAssertion( "MONDO:0005321"^^xsd:string) AnnotationAssertion( "NCI:C84721"^^xsd:string) AnnotationAssertion( "ORDO:98974"^^xsd:string) AnnotationAssertion( "FCED"^^xsd:string) AnnotationAssertion( "Fuch endothelial dystrophy"^^xsd:string) AnnotationAssertion( "Fuch's endothelial dystrophy"^^xsd:string) AnnotationAssertion( "Fuchs Corneal Dystrophy"^^xsd:string) AnnotationAssertion( "Fuchs Dystrophy"^^xsd:string) AnnotationAssertion( "Fuchs atrophy"^^xsd:string) AnnotationAssertion( "Fuchs endothelial corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11555"^^xsd:string) AnnotationAssertion(rdfs:label "Fuchs' endothelial dystrophy"^^xsd:string) SubClassOf( ) # Class: (acute serous otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string) "A acute transudative otitis media with thin, watery and sterile effusion. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H65.0"^^xsd:string) AnnotationAssertion( "ICD9CM:381.01"^^xsd:string) AnnotationAssertion( "RDO:9003859"^^xsd:string) AnnotationAssertion( "acute non-suppurative otitis media - serous"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11557"^^xsd:string) AnnotationAssertion(rdfs:label "acute serous otitis media"^^xsd:string) SubClassOf( ) # Class: (acute allergic serous otitis media) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string) "A acute serous otitis media caused by an allergen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:381.04"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11558"^^xsd:string) AnnotationAssertion(rdfs:label "acute allergic serous otitis media"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chondrocalcinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondrocalcinosis"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/pseudogout/DS00717"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm"^^xsd:string) Annotation( "http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp"^^xsd:string) "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:712.1"^^xsd:string) AnnotationAssertion( "MESH:D002805"^^xsd:string) AnnotationAssertion( "NCI:C34955"^^xsd:string) AnnotationAssertion( "ORDO:1416"^^xsd:string) AnnotationAssertion( "Calcium Pyrophosphate Deposition Disease"^^xsd:string) AnnotationAssertion( "Calcium Pyrophosphate Dihydrate Deposition"^^xsd:string) AnnotationAssertion( "chondrocalcinoses"^^xsd:string) AnnotationAssertion( "pseudogout"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1156"^^xsd:string) AnnotationAssertion(rdfs:label "chondrocalcinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypertensive retinopathy) AnnotationAssertion(Annotation( "MESH:D058437"^^xsd:string) "Degenerative changes to the RETINA due to HYPERTENSION."^^xsd:string) AnnotationAssertion( "EFO:1000977"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.03"^^xsd:string) AnnotationAssertion( "ICD9CM:362.11"^^xsd:string) AnnotationAssertion( "MESH:D058437"^^xsd:string) AnnotationAssertion( "NCI:C3514"^^xsd:string) AnnotationAssertion( "RDO:0007828"^^xsd:string) AnnotationAssertion( "Hypertensive Retinopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11561"^^xsd:string) AnnotationAssertion(rdfs:label "hypertensive retinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinal vasculitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Retinal_vasculitis"^^xsd:string) "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001156"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.06"^^xsd:string) AnnotationAssertion( "ICD9CM:362.18"^^xsd:string) AnnotationAssertion( "MESH:D031300"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11563"^^xsd:string) AnnotationAssertion(rdfs:label "retinal vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurocirculatory asthenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/"^^xsd:string) "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:306.2"^^xsd:string) AnnotationAssertion( "MESH:D009449"^^xsd:string) AnnotationAssertion( "Da Costa's syndrome"^^xsd:string) AnnotationAssertion( "Effort Syndrome"^^xsd:string) AnnotationAssertion( "Krishaber's disease"^^xsd:string) AnnotationAssertion( "cardiac neuroses"^^xsd:string) AnnotationAssertion( "cardiac neurosis"^^xsd:string) AnnotationAssertion( "cardiovascular malfunction arising from mental factors"^^xsd:string) AnnotationAssertion( "cardiovascular neurosis"^^xsd:string) AnnotationAssertion( "hyperkinetic heart syndrome"^^xsd:string) AnnotationAssertion( "neurocirculatory asthenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11569"^^xsd:string) AnnotationAssertion(rdfs:label "neurocirculatory asthenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (listeria meningitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21877182"^^xsd:string) "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001021"^^xsd:string) AnnotationAssertion( "MESH:D008584"^^xsd:string) AnnotationAssertion( "MONDO:0006836"^^xsd:string) AnnotationAssertion( "Listeria Cerebritis"^^xsd:string) AnnotationAssertion( "Listeria Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Listeria monocytogenes Meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11572"^^xsd:string) AnnotationAssertion(rdfs:label "listeria meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (listeriosis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007347"^^xsd:string) AnnotationAssertion( "ICD10CM:A32"^^xsd:string) AnnotationAssertion( "ICD9CM:027.0"^^xsd:string) AnnotationAssertion( "MESH:D008088"^^xsd:string) AnnotationAssertion( "NCI:C82994"^^xsd:string) AnnotationAssertion( "Listeria Infection"^^xsd:string) AnnotationAssertion( "Listeria Infections"^^xsd:string) AnnotationAssertion( "Listerioses"^^xsd:string) AnnotationAssertion( "infection by listeria monocytogenes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11573"^^xsd:string) AnnotationAssertion(rdfs:label "listeriosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (streptococcal meningitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000607.htm"^^xsd:string) "A bacterial meningitis that has_material_basis_in streptococcal bacteria. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G00.2"^^xsd:string) AnnotationAssertion( "ICD9CM:320.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11574"^^xsd:string) AnnotationAssertion(rdfs:label "streptococcal meningitis"^^xsd:string) SubClassOf( ) # Class: (Cauda equina syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cauda_equina_syndrome"^^xsd:string) "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007196"^^xsd:string) AnnotationAssertion( "GARD:10987"^^xsd:string) AnnotationAssertion( "ICD10CM:G83.4"^^xsd:string) AnnotationAssertion( "ICD9CM:344.6"^^xsd:string) AnnotationAssertion( "MESH:D000077684"^^xsd:string) AnnotationAssertion( "NCI:C35436"^^xsd:string) AnnotationAssertion( "cauda equina syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11577"^^xsd:string) AnnotationAssertion(rdfs:label "Cauda equina syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (phlyctenulosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.25"^^xsd:string) AnnotationAssertion( "ICD9CM:370.31"^^xsd:string) AnnotationAssertion( "phlyctenular keratoconjunctivitis"^^xsd:string) AnnotationAssertion( "strumous ophthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11581"^^xsd:string) AnnotationAssertion(rdfs:label "phlyctenulosis"^^xsd:string) SubClassOf( ) # Class: (Riley-Day syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26769677/"^^xsd:string) "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223900"^^xsd:string) AnnotationAssertion( "ICD10CM:G90.1"^^xsd:string) AnnotationAssertion( "MESH:D004402"^^xsd:string) AnnotationAssertion( "NCI:C84706"^^xsd:string) AnnotationAssertion( "DYS"^^xsd:string) AnnotationAssertion( "FD"^^xsd:string) AnnotationAssertion( "HSAN (hereditary sensory and autonomic neuropathy) type III"^^xsd:string) AnnotationAssertion( "HSAN 3"^^xsd:string) AnnotationAssertion( "HSAN III"^^xsd:string) AnnotationAssertion( "HSAN type III"^^xsd:string) AnnotationAssertion( "HSAN3"^^xsd:string) AnnotationAssertion( "HSN-III"^^xsd:string) AnnotationAssertion( "Hereditary Sensory and Autonomic Neuropathy Type III"^^xsd:string) AnnotationAssertion( "dominant hereditary sensory neuropathy, type 3"^^xsd:string) AnnotationAssertion( "dominant hereditary sensory neuropathy, type III"^^xsd:string) AnnotationAssertion( "familial autonomic nervous dysfunction"^^xsd:string) AnnotationAssertion( "familial dysautonomia"^^xsd:string) AnnotationAssertion( "hereditary and autonomic neuropathy, type III"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy 3"^^xsd:string) AnnotationAssertion( "hereditary sensory neuropathy type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11589"^^xsd:string) AnnotationAssertion(rdfs:label "Riley-Day syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (functional gastric disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:536.8"^^xsd:string) AnnotationAssertion( "RDO:9003446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1159"^^xsd:string) AnnotationAssertion(rdfs:label "functional gastric disease"^^xsd:string) SubClassOf( ) # Class: (bladder lateral wall cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.2"^^xsd:string) AnnotationAssertion( "ICD9CM:188.2"^^xsd:string) AnnotationAssertion( "NCI:C12333"^^xsd:string) AnnotationAssertion( "RDO:9001946"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C12333"^^xsd:string) "Lateral Wall of bladder"^^xsd:string) AnnotationAssertion( "lateral wall of bladder cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lateral wall of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11593"^^xsd:string) AnnotationAssertion(rdfs:label "bladder lateral wall cancer"^^xsd:string) SubClassOf( ) # Class: (ring staphyloma) AnnotationAssertion( "ICD10CM:H15.85"^^xsd:string) AnnotationAssertion( "ICD9CM:379.15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11594"^^xsd:string) AnnotationAssertion(rdfs:label "ring staphyloma"^^xsd:string) SubClassOf( ) # Class: (scleral staphyloma) AnnotationAssertion( "Scleral ectasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11595"^^xsd:string) AnnotationAssertion(rdfs:label "scleral staphyloma"^^xsd:string) SubClassOf( ) # Class: (Frey syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/12269550/"^^xsd:string) "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. (DO)"^^xsd:string) AnnotationAssertion( "MIM:144100"^^xsd:string) AnnotationAssertion( "EFO:1000940"^^xsd:string) AnnotationAssertion( "GARD:6467"^^xsd:string) AnnotationAssertion( "MESH:D013547"^^xsd:string) AnnotationAssertion( "Baillarger Syndrome"^^xsd:string) AnnotationAssertion( "Frey's Syndrome"^^xsd:string) AnnotationAssertion( "Gustatory Hyperhidrosis"^^xsd:string) AnnotationAssertion( "Salivosudoriparous Syndrome"^^xsd:string) AnnotationAssertion( "auriculotemporal nerve syndrome"^^xsd:string) AnnotationAssertion( "auriculotemporal syndrome"^^xsd:string) AnnotationAssertion( "gustatory hyperhidroses"^^xsd:string) AnnotationAssertion( "gustatory sweating"^^xsd:string) AnnotationAssertion( "salivosudoriparous syndromes"^^xsd:string) AnnotationAssertion( "von Frey syndrome"^^xsd:string) AnnotationAssertion( "von Frey's Syndrome"^^xsd:string) AnnotationAssertion( "von Freys syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11599"^^xsd:string) AnnotationAssertion(rdfs:label "Frey syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pericardium cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C38.0"^^xsd:string) AnnotationAssertion( "NCI:C4567"^^xsd:string) AnnotationAssertion( "NCI:C4651"^^xsd:string) AnnotationAssertion( "RDO:9002747"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4651"^^xsd:string) "Pericardial tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of pericardium"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4567"^^xsd:string) "malignant tumor of Pericardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:116"^^xsd:string) AnnotationAssertion(rdfs:label "pericardium cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infant gynecomastia) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2012/0401/p716.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28260521"^^xsd:string) "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P83.4"^^xsd:string) AnnotationAssertion( "ICD9CM:778.7"^^xsd:string) AnnotationAssertion( "NCI:C117312"^^xsd:string) AnnotationAssertion( "breast engorgement in newborn"^^xsd:string) AnnotationAssertion( "neonatal gynaecomastia"^^xsd:string) AnnotationAssertion( "newborn gynecomastia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11603"^^xsd:string) AnnotationAssertion(rdfs:label "infant gynecomastia"^^xsd:string) SubClassOf( ) # Class: (fungal meningitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fungal_meningitis"^^xsd:string) "A meningitis that has_material_basis_in a fungal infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000942"^^xsd:string) AnnotationAssertion( "MESH:D016921"^^xsd:string) AnnotationAssertion( "fungal meningitides"^^xsd:string) AnnotationAssertion( "fungal pachymeningitides"^^xsd:string) AnnotationAssertion( "fungal pachymeningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11608"^^xsd:string) AnnotationAssertion(rdfs:label "fungal meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycystic ovary syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28791858"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20591140"^^xsd:string) "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184700"^^xsd:string) AnnotationAssertion( "EFO:0000660"^^xsd:string) AnnotationAssertion( "ICD10CM:E28.2"^^xsd:string) AnnotationAssertion( "ICD9CM:256.4"^^xsd:string) AnnotationAssertion( "MESH:D011085"^^xsd:string) AnnotationAssertion( "NCI:C26862"^^xsd:string) AnnotationAssertion( "NCI:C92847"^^xsd:string) AnnotationAssertion( "Multicystic ovaries"^^xsd:string) AnnotationAssertion( "PCO"^^xsd:string) AnnotationAssertion( "PCO1"^^xsd:string) AnnotationAssertion( "PCOS"^^xsd:string) AnnotationAssertion( "PCOS1"^^xsd:string) AnnotationAssertion( "Polycystic Ovarian Syndrome"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27086"^^xsd:string) "Polycystic Ovarian disease"^^xsd:string) AnnotationAssertion( "Polycystic Ovary Syndrome 1"^^xsd:string) AnnotationAssertion( "Polycystic ovaries"^^xsd:string) AnnotationAssertion( "Sclerocystic Ovarian Degeneration"^^xsd:string) AnnotationAssertion( "Sclerocystic Ovaries"^^xsd:string) AnnotationAssertion( "Sclerocystic Ovary"^^xsd:string) AnnotationAssertion( "Sclerocystic Ovary Syndrome"^^xsd:string) AnnotationAssertion( "Stein Leventhal syndrome"^^xsd:string) AnnotationAssertion( "Stein-Leventhal synd."^^xsd:string) AnnotationAssertion( "hyperandrogenemia"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2587-6111"^^xsd:string) "polycystic ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:11612"^^xsd:string) AnnotationAssertion(rdfs:label "polycystic ovary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperandrogenism) AnnotationAssertion(Annotation( "MESH:D017588"^^xsd:string) "A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION."^^xsd:string) AnnotationAssertion( "RDO:0003503"^^xsd:string) AnnotationAssertion( "EFO:0009006"^^xsd:string) AnnotationAssertion( "MESH:D017588"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:237793004"^^xsd:string) "hyperandrogenization syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11613"^^xsd:string) AnnotationAssertion(rdfs:label "hyperandrogenism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (penile cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C60"^^xsd:string) AnnotationAssertion( "ICD10CM:C60.2"^^xsd:string) AnnotationAssertion( "ICD9CM:187.3"^^xsd:string) AnnotationAssertion( "ICD9CM:187.4"^^xsd:string) AnnotationAssertion( "NCI:C7547"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:154536009"^^xsd:string) "Ca penis"^^xsd:string) AnnotationAssertion( "cancer of penis"^^xsd:string) AnnotationAssertion( "malignant neoplasm of body of penis"^^xsd:string) AnnotationAssertion( "malignant penile tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93954003"^^xsd:string) "penile Ca"^^xsd:string) AnnotationAssertion( "penile cancers"^^xsd:string) AnnotationAssertion( "penis cancer"^^xsd:string) AnnotationAssertion( "penis cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11615"^^xsd:string) AnnotationAssertion(rdfs:label "penile cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental pulp necrosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/3867505/"^^xsd:string) Annotation( "https://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/"^^xsd:string) "A dental pulp disease characterized by death of the pulp tissue. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.1"^^xsd:string) AnnotationAssertion( "ICD9CM:522.1"^^xsd:string) AnnotationAssertion( "MESH:D003790"^^xsd:string) AnnotationAssertion( "Dental Pulp Autolysis"^^xsd:string) AnnotationAssertion( "Dental Pulp Gangrene"^^xsd:string) AnnotationAssertion( "Pulp Gangrene"^^xsd:string) AnnotationAssertion( "Pulp Gangrenes"^^xsd:string) AnnotationAssertion( "Pulp Mummification"^^xsd:string) AnnotationAssertion( "Pulp Mummifications"^^xsd:string) AnnotationAssertion( "dental pulp autolyses"^^xsd:string) AnnotationAssertion( "dental pulp necroses"^^xsd:string) AnnotationAssertion( "necrosis of the pulp"^^xsd:string) AnnotationAssertion( "necrotic pulp"^^xsd:string) AnnotationAssertion( "pulp necroses"^^xsd:string) AnnotationAssertion( "pulp necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11623"^^xsd:string) AnnotationAssertion(rdfs:label "dental pulp necrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penile benign neoplasm) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11624"^^xsd:string) AnnotationAssertion(rdfs:label "penile benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pelvic muscle wasting) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27219835/"^^xsd:string) "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N81.84"^^xsd:string) AnnotationAssertion( "ICD9CM:618.83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11629"^^xsd:string) AnnotationAssertion(rdfs:label "pelvic muscle wasting"^^xsd:string) SubClassOf( ) # Class: (thyroid hormone resistance syndrome) AnnotationAssertion(Annotation( "MESH:D018382"^^xsd:string) "An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels."^^xsd:string) AnnotationAssertion( "THRB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:D018382"^^xsd:string) AnnotationAssertion( "NCI:C131816"^^xsd:string) AnnotationAssertion( "NCI:C85191"^^xsd:string) AnnotationAssertion( "GRTH"^^xsd:string) AnnotationAssertion( "GTHR"^^xsd:string) AnnotationAssertion( "Refetoff DeWind DeGroot syndrome"^^xsd:string) AnnotationAssertion( "Refetoff syndrome"^^xsd:string) AnnotationAssertion( "generalized resistance to thyroid hormone"^^xsd:string) AnnotationAssertion( "generalized thyroid hormone resistance"^^xsd:string) AnnotationAssertion( "thyroid hormone resistance"^^xsd:string) AnnotationAssertion( "thyroid hormone responsiveness defect"^^xsd:string) AnnotationAssertion( "thyroid hormone unresponsiveness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11633"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid hormone resistance syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myxedema) AnnotationAssertion(Annotation( "MESH:D009230"^^xsd:string) "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips."^^xsd:string) AnnotationAssertion( "MIM:255900"^^xsd:string) AnnotationAssertion( "EFO:1001055"^^xsd:string) AnnotationAssertion( "MESH:D009230"^^xsd:string) AnnotationAssertion( "NCI:C34834"^^xsd:string) AnnotationAssertion( "myxedemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11634"^^xsd:string) AnnotationAssertion(rdfs:label "myxedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (accommodative spasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.53"^^xsd:string) AnnotationAssertion( "ICD9CM:367.53"^^xsd:string) AnnotationAssertion( "spasm of accommodation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11637"^^xsd:string) AnnotationAssertion(rdfs:label "accommodative spasm"^^xsd:string) SubClassOf( ) # Class: (presbyopia) AnnotationAssertion(Annotation( "MESH:D011305"^^xsd:string) "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation."^^xsd:string) AnnotationAssertion( "ICD10CM:H52.4"^^xsd:string) AnnotationAssertion( "ICD9CM:367.4"^^xsd:string) AnnotationAssertion( "MESH:D011305"^^xsd:string) AnnotationAssertion( "presbyopias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11638"^^xsd:string) AnnotationAssertion(rdfs:label "presbyopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchopulmonary dysplasia) AnnotationAssertion(Annotation( "https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia"^^xsd:string) "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T20:27:47Z"^^xsd:string) AnnotationAssertion( "DOID:9001403"^^xsd:string) AnnotationAssertion( "ICD10CM:P27.1"^^xsd:string) AnnotationAssertion( "MESH:D001997"^^xsd:string) AnnotationAssertion( "MONDO:0019091"^^xsd:string) AnnotationAssertion( "NCI:C90599"^^xsd:string) AnnotationAssertion( "Chronic lung disease of prematurity"^^xsd:string) AnnotationAssertion( "Neonatal chronic lung disease"^^xsd:string) AnnotationAssertion( "bronchopulmonary dysplasia of newborn"^^xsd:string) AnnotationAssertion( "bronchopulmonary dysplasias"^^xsd:string) AnnotationAssertion( "neonatal chronic respiratory disease"^^xsd:string) AnnotationAssertion( "perinatal bronchopulmonary dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11650"^^xsd:string) AnnotationAssertion(rdfs:label "bronchopulmonary dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctival deposit) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.11"^^xsd:string) AnnotationAssertion( "ICD9CM:372.56"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11653"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival deposit"^^xsd:string) SubClassOf( ) # Class: (cicatricial pemphigoid) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cicatricial_pemphigoid"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html"^^xsd:string) "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:164185"^^xsd:string) AnnotationAssertion( "EFO:0008610"^^xsd:string) AnnotationAssertion( "EFO:0008611"^^xsd:string) AnnotationAssertion( "EFO:0008612"^^xsd:string) AnnotationAssertion( "EFO:1000680"^^xsd:string) AnnotationAssertion( "GARD:5913"^^xsd:string) AnnotationAssertion( "ICD10CM:L12.1"^^xsd:string) AnnotationAssertion( "ICD9CM:694.6"^^xsd:string) AnnotationAssertion( "ICD9CM:694.61"^^xsd:string) AnnotationAssertion( "MESH:D010390"^^xsd:string) AnnotationAssertion( "NCI:C34907"^^xsd:string) AnnotationAssertion( "Ocular Cicatricial Pemphigoid"^^xsd:string) AnnotationAssertion( "benign mucosal pemphigoid"^^xsd:string) AnnotationAssertion( "benign mucosal pemphigoids"^^xsd:string) AnnotationAssertion( "benign mucous membrane pemphigoid"^^xsd:string) AnnotationAssertion( "benign mucous membrane pemphigoid with ocular involvement"^^xsd:string) AnnotationAssertion( "cicatricial pemphigoid with ocular involvement"^^xsd:string) AnnotationAssertion( "mucous membrane pemphigoid"^^xsd:string) AnnotationAssertion( "ocular cicatricial pemphigoids"^^xsd:string) AnnotationAssertion( "ocular pemphigoid"^^xsd:string) AnnotationAssertion( "ocular pemphigus"^^xsd:string) AnnotationAssertion( "localised cicatricial pemphigoid"^^xsd:string) AnnotationAssertion( "vegetating cicatricial pemphigoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11656"^^xsd:string) AnnotationAssertion(rdfs:label "cicatricial pemphigoid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (palindromic rheumatism) AnnotationAssertion(Annotation( "http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Palindromic_rheumatism"^^xsd:string) Annotation( "http://www.palindromicrheumatism.org/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516"^^xsd:string) "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7304"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.3"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.30"^^xsd:string) AnnotationAssertion( "ICD9CM:719.3"^^xsd:string) AnnotationAssertion( "ICD9CM:719.31"^^xsd:string) AnnotationAssertion( "MESH:C538103"^^xsd:string) AnnotationAssertion( "Hench's syndrome"^^xsd:string) AnnotationAssertion( "Hench-Rosenberg syndrome"^^xsd:string) AnnotationAssertion( "palindromic rheumatism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1166"^^xsd:string) AnnotationAssertion(rdfs:label "palindromic rheumatism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blue color blindness) AnnotationAssertion(Annotation( "http://www.omim.org/entry/190900"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2788922"^^xsd:string) "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.55"^^xsd:string) AnnotationAssertion( "ICD9CM:368.53"^^xsd:string) AnnotationAssertion( "MIM:190900"^^xsd:string) AnnotationAssertion( "CBT"^^xsd:string) AnnotationAssertion( "COLORBLINDNESS, TRITAN"^^xsd:string) AnnotationAssertion( "COLORBLINDNESS, TRITANOPIC"^^xsd:string) AnnotationAssertion( "blue colorblindness"^^xsd:string) AnnotationAssertion( "tritan defect"^^xsd:string) AnnotationAssertion( "tritanopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11661"^^xsd:string) AnnotationAssertion(rdfs:label "blue color blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrosclerosis) AnnotationAssertion(Annotation( "MESH:D009400"^^xsd:string) "Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA."^^xsd:string) AnnotationAssertion( "EFO:1000041"^^xsd:string) AnnotationAssertion( "GARD:7179"^^xsd:string) AnnotationAssertion( "ICD10CM:I12"^^xsd:string) AnnotationAssertion( "ICD10CM:N26.9"^^xsd:string) AnnotationAssertion( "ICD9CM:587"^^xsd:string) AnnotationAssertion( "MESH:D009400"^^xsd:string) AnnotationAssertion( "Nephroscleroses"^^xsd:string) AnnotationAssertion( "renal sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11664"^^xsd:string) AnnotationAssertion(rdfs:label "nephrosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Patau syndrome) AnnotationAssertion( "ICD10CM:Q91.7"^^xsd:string) AnnotationAssertion( "ICD9CM:758.1"^^xsd:string) AnnotationAssertion( "MESH:C536305"^^xsd:string) AnnotationAssertion( "NCI:C101223"^^xsd:string) AnnotationAssertion( "NCI:C36529"^^xsd:string) AnnotationAssertion( "Bartholin-Patau syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 13 trisomy syndrome"^^xsd:string) AnnotationAssertion( "Complete Trisomy 13 Syndrome"^^xsd:string) AnnotationAssertion( "D1 trisomy"^^xsd:string) AnnotationAssertion( "Patau's Syndrome"^^xsd:string) AnnotationAssertion( "Trisomy 13"^^xsd:string) AnnotationAssertion( "chromosome 13 duplication"^^xsd:string) AnnotationAssertion( "trisomy 13 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11665"^^xsd:string) AnnotationAssertion(rdfs:label "Patau syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypopigmentation of eyelid) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vitiligo"^^xsd:string) Annotation( "https://www.aafp.org/afp/1998/0601/p2695.html"^^xsd:string) "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000713"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.73"^^xsd:string) AnnotationAssertion( "ICD9CM:374.53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11668"^^xsd:string) AnnotationAssertion(rdfs:label "hypopigmentation of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypertrichosis of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.86"^^xsd:string) AnnotationAssertion( "ICD9CM:374.54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11669"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrichosis of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.72"^^xsd:string) AnnotationAssertion( "ICD9CM:374.55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11671"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (onchocerciasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm"^^xsd:string) "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007402"^^xsd:string) AnnotationAssertion( "GARD:7252"^^xsd:string) AnnotationAssertion( "ICD10CM:B73"^^xsd:string) AnnotationAssertion( "ICD9CM:125.3"^^xsd:string) AnnotationAssertion( "MESH:D009855"^^xsd:string) AnnotationAssertion( "NCI:C34861"^^xsd:string) AnnotationAssertion( "Onchocerca volvulus infection"^^xsd:string) AnnotationAssertion( "Onchocerciases"^^xsd:string) AnnotationAssertion( "infection by Onchocerca volvulus"^^xsd:string) AnnotationAssertion( "volvulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11678"^^xsd:string) AnnotationAssertion(rdfs:label "onchocerciasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hyperlipidemia) AnnotationAssertion(Annotation( "MESH:D006949"^^xsd:string) "Conditions with excess LIPIDS in the blood."^^xsd:string) AnnotationAssertion( "EFO:0003774"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.5"^^xsd:string) AnnotationAssertion( "MESH:D006949"^^xsd:string) AnnotationAssertion( "MONDO:0001336"^^xsd:string) AnnotationAssertion( "MONDO:0021187"^^xsd:string) AnnotationAssertion( "NCI:C34707"^^xsd:string) AnnotationAssertion( "NCI:C34709"^^xsd:string) AnnotationAssertion( "Hyperlipemia"^^xsd:string) AnnotationAssertion( "Hyperlipidemia"^^xsd:string) AnnotationAssertion( "Lipemia"^^xsd:string) AnnotationAssertion( "Lipemias"^^xsd:string) AnnotationAssertion( "Lipidemia"^^xsd:string) AnnotationAssertion( "familial hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "hyperlipemias"^^xsd:string) AnnotationAssertion( "lipidemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hyperlipidaemia"^^xsd:string) AnnotationAssertion( "DOID:1168"^^xsd:string) AnnotationAssertion(rdfs:label "familial hyperlipidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (melanoacanthoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000733"^^xsd:string) AnnotationAssertion( "NCI:C27548"^^xsd:string) AnnotationAssertion( "RDO:9003559"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11684"^^xsd:string) AnnotationAssertion(rdfs:label "melanoacanthoma"^^xsd:string) SubClassOf( ) # Class: (inflamed seborrheic keratosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:L82.0"^^xsd:string) AnnotationAssertion( "ICD9CM:702.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11685"^^xsd:string) AnnotationAssertion(rdfs:label "inflamed seborrheic keratosis"^^xsd:string) SubClassOf( ) # Class: (acute apical periodontitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.4"^^xsd:string) AnnotationAssertion( "ICD9CM:522.4"^^xsd:string) AnnotationAssertion( "RDO:9003073"^^xsd:string) AnnotationAssertion( "acute apical periodontitis of pulpal origin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11693"^^xsd:string) AnnotationAssertion(rdfs:label "acute apical periodontitis"^^xsd:string) SubClassOf( ) # Class: (portal vein thrombosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Portal_vein_thrombosis"^^xsd:string) "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I81"^^xsd:string) AnnotationAssertion( "ICD9CM:452"^^xsd:string) AnnotationAssertion( "NCI:C78565"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11695"^^xsd:string) AnnotationAssertion(rdfs:label "portal vein thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heart_cancer"^^xsd:string) "A cardiovascular cancer located_in the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2619"^^xsd:string) AnnotationAssertion( "ICD9CM:164.1"^^xsd:string) AnnotationAssertion( "MESH:D006338"^^xsd:string) AnnotationAssertion( "NCI:C3081"^^xsd:string) AnnotationAssertion( "NCI:C3548"^^xsd:string) AnnotationAssertion( "cardiac cancer"^^xsd:string) AnnotationAssertion( "cardiac cancers"^^xsd:string) AnnotationAssertion( "heart cancers"^^xsd:string) AnnotationAssertion( "malignant cardiac tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:117"^^xsd:string) AnnotationAssertion(rdfs:label "heart cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (selective IgA deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency"^^xsd:string) "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137100"^^xsd:string) AnnotationAssertion( "MESH:C536290"^^xsd:string) AnnotationAssertion( "NCI:C123434"^^xsd:string) AnnotationAssertion( "NCI:C26964"^^xsd:string) AnnotationAssertion( "Gamma-a-globulin, selective deficiency of"^^xsd:string) AnnotationAssertion( "IGAD1"^^xsd:string) AnnotationAssertion( "Iga, selective deficiency of"^^xsd:string) AnnotationAssertion( "Immunoglobulin A Deficiency 1"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:29260007"^^xsd:string) "Immunoglobulin A deficiency"^^xsd:string) AnnotationAssertion( "Immunoglobulin a, selective deficiency of"^^xsd:string) AnnotationAssertion( "selective IgA immunodeficiency"^^xsd:string) AnnotationAssertion( "selective immunoglobulin A deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11701"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgA deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dysgammaglobulinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgammaglobulinemia"^^xsd:string) "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004406"^^xsd:string) AnnotationAssertion( "dysgammaglobulinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11702"^^xsd:string) AnnotationAssertion(rdfs:label "dysgammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hyperlipoproteinemia type V) AnnotationAssertion(Annotation( "MESH:D006954"^^xsd:string) "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ."^^xsd:string) AnnotationAssertion( "MIM:144650"^^xsd:string) AnnotationAssertion( "MESH:D006954"^^xsd:string) AnnotationAssertion( "NCI:C35645"^^xsd:string) AnnotationAssertion( "Fredrickson type V lipaemia"^^xsd:string) AnnotationAssertion( "Hyperchylomicronemia Late Onset"^^xsd:string) AnnotationAssertion( "Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial"^^xsd:string) AnnotationAssertion( "Hyperlipemia, Combined Fat And Carbohydrate Induced"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type 5"^^xsd:string) AnnotationAssertion( "Mixed Hyperlipemia"^^xsd:string) AnnotationAssertion( "Mixed Hyperlipemias"^^xsd:string) AnnotationAssertion( "Type V Hyperlipidemia"^^xsd:string) AnnotationAssertion( "Type V Hyperlipidemias"^^xsd:string) AnnotationAssertion( "familial hyperlipoproteinemia type 5"^^xsd:string) AnnotationAssertion( "familial hyperlipoproteinemia type V"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemias type V"^^xsd:string) AnnotationAssertion( "late-onset hyperchylomicronemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1171"^^xsd:string) AnnotationAssertion(rdfs:label "hyperlipoproteinemia type V"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lipoatrophic diabetes mellitus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipoatrophic_diabetes"^^xsd:string) "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007346"^^xsd:string) AnnotationAssertion( "MESH:D003923"^^xsd:string) AnnotationAssertion( "NCI:C34537"^^xsd:string) AnnotationAssertion( "FAMILIAL PARTIAL LIPODYSTROPHY 2"^^xsd:string) AnnotationAssertion( "lipoatrophic diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11712"^^xsd:string) AnnotationAssertion(rdfs:label "lipoatrophic diabetes mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diabetic angiopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Diabetic_angiopathy"^^xsd:string) "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. (DO)"^^xsd:string) AnnotationAssertion( "DOID:10182"^^xsd:string) AnnotationAssertion( "MIM:603933"^^xsd:string) AnnotationAssertion( "MIM:612623"^^xsd:string) AnnotationAssertion( "MIM:612624"^^xsd:string) AnnotationAssertion( "MIM:612628"^^xsd:string) AnnotationAssertion( "MIM:612633"^^xsd:string) AnnotationAssertion( "MIM:612634"^^xsd:string) AnnotationAssertion( "MIM:612635"^^xsd:string) AnnotationAssertion( "EFO:0010977"^^xsd:string) AnnotationAssertion( "EFO:1000896"^^xsd:string) AnnotationAssertion( "ICD9CM:250.7"^^xsd:string) AnnotationAssertion( "MESH:D003925"^^xsd:string) AnnotationAssertion( "MIM:PS603933"^^xsd:string) AnnotationAssertion( "NCI:C35610"^^xsd:string) AnnotationAssertion( "Diabetic Microangiopathy"^^xsd:string) AnnotationAssertion( "diabetic angiopathies"^^xsd:string) AnnotationAssertion( "diabetic microangiopathies"^^xsd:string) AnnotationAssertion( "diabetic peripheral angiopathy"^^xsd:string) AnnotationAssertion( "diabetic vascular complication"^^xsd:string) AnnotationAssertion( "diabetic vascular complications"^^xsd:string) AnnotationAssertion( "diabetic vascular disease"^^xsd:string) AnnotationAssertion( "diabetic vascular diseases"^^xsd:string) AnnotationAssertion( "diabetic vascular disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MVCD1"^^xsd:string) AnnotationAssertion( "MVCD2"^^xsd:string) AnnotationAssertion( "MVCD3"^^xsd:string) AnnotationAssertion( "MVCD4"^^xsd:string) AnnotationAssertion( "MVCD5"^^xsd:string) AnnotationAssertion( "MVCD6"^^xsd:string) AnnotationAssertion( "MVCD7"^^xsd:string) AnnotationAssertion( "SUPEROXIDE DISMUTASE 2 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "diabetic neuropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "diabetic nonproliferative retinopathy, susceptibility to"^^xsd:string) AnnotationAssertion( "diabetic proliferative retinopathy, susceptibility to"^^xsd:string) AnnotationAssertion( "diabetic retinopathy, susceptibility to"^^xsd:string) AnnotationAssertion( "macrovascular complications of diabetes"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, protection against"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "microvascular complications of diabetes, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:11713"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic angiopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gestational diabetes) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26824237/"^^xsd:string) "A diabetes mellitus that manifests during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004593"^^xsd:string) AnnotationAssertion( "ICD10CM:O24.4"^^xsd:string) AnnotationAssertion( "MESH:D016640"^^xsd:string) AnnotationAssertion( "NCI:C34942"^^xsd:string) AnnotationAssertion( "GDM"^^xsd:string) AnnotationAssertion( "Pregnancy-Induced Diabetes"^^xsd:string) AnnotationAssertion( "gestational diabetes mellitus"^^xsd:string) AnnotationAssertion( "maternal gestational diabetes mellitus"^^xsd:string) AnnotationAssertion( "GESTATIONAL DIABETES MELLITUS UNCONTROLLED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11714"^^xsd:string) AnnotationAssertion(rdfs:label "gestational diabetes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prediabetes syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26280340/"^^xsd:string) "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001121"^^xsd:string) AnnotationAssertion( "MESH:D011236"^^xsd:string) AnnotationAssertion( "NCI:C122685"^^xsd:string) AnnotationAssertion( "prediabetes"^^xsd:string) AnnotationAssertion( "prediabetic state"^^xsd:string) AnnotationAssertion( "prediabetic states"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11716"^^xsd:string) AnnotationAssertion(rdfs:label "prediabetes syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal diabetes) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/"^^xsd:string) "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P70.2"^^xsd:string) AnnotationAssertion( "ICD9CM:775.1"^^xsd:string) AnnotationAssertion( "NCI:C99248"^^xsd:string) AnnotationAssertion( "diabetes mellitus syndrome in newborn infant"^^xsd:string) AnnotationAssertion( "neonatal diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11717"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal diabetes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (antidepressant type abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Antidepressant"^^xsd:string) "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:305.8"^^xsd:string) AnnotationAssertion( "antidepressant use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11718"^^xsd:string) AnnotationAssertion(rdfs:label "antidepressant type abuse"^^xsd:string) SubClassOf( ) # Class: (oculopharyngeal muscular dystrophy) AnnotationAssertion(Annotation( "MESH:D039141"^^xsd:string) "An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy."^^xsd:string) AnnotationAssertion( "MIM:164300"^^xsd:string) AnnotationAssertion( "MESH:D039141"^^xsd:string) AnnotationAssertion( "NCI:C84942"^^xsd:string) AnnotationAssertion( "OPMD"^^xsd:string) AnnotationAssertion( "OPMD1"^^xsd:string) AnnotationAssertion( "oculopharyngeal dystrophy"^^xsd:string) AnnotationAssertion( "oculopharyngeal muscular dystrophies"^^xsd:string) AnnotationAssertion( "oculopharyngeal muscular dystrophy 1"^^xsd:string) AnnotationAssertion( "progressive muscular dystrophy, oculopharyngeal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11719"^^xsd:string) AnnotationAssertion(rdfs:label "oculopharyngeal muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperlipoproteinemia type IV) AnnotationAssertion(Annotation( "MESH:D006953"^^xsd:string) "A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits."^^xsd:string) AnnotationAssertion( "MIM:144600"^^xsd:string) AnnotationAssertion( "MIM:145750"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.1"^^xsd:string) AnnotationAssertion( "ICD9CM:272.1"^^xsd:string) AnnotationAssertion( "MESH:D006953"^^xsd:string) AnnotationAssertion( "NCI:C34711"^^xsd:string) AnnotationAssertion( "Familial Hyperlipoproteinemia Type 4"^^xsd:string) AnnotationAssertion( "Familial Type IV Hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "Fredrickson type IV hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "Fredrickson type IV lipidaemia"^^xsd:string) AnnotationAssertion( "Fredrickson type IV lipidemia"^^xsd:string) AnnotationAssertion( "Hyper prebeta lipoproteinemia"^^xsd:string) AnnotationAssertion( "VLDL hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "carbohydrate inducible hyperlipemia"^^xsd:string) AnnotationAssertion( "carbohydrate inducible hyperlipemias"^^xsd:string) AnnotationAssertion( "endogenous hyperlipidaemia"^^xsd:string) AnnotationAssertion( "hyperprebetalipoproteinemia"^^xsd:string) AnnotationAssertion( "type IV hyperlipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1172"^^xsd:string) AnnotationAssertion(rdfs:label "hyperlipoproteinemia type IV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (distal myopathy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/distal-myopathy/"^^xsd:string) "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.09"^^xsd:string) AnnotationAssertion( "MESH:D049310"^^xsd:string) AnnotationAssertion( "MIM:PS160500"^^xsd:string) AnnotationAssertion( "NCI:C84675"^^xsd:string) AnnotationAssertion( "ORDO:399086"^^xsd:string) AnnotationAssertion( "ORDO:399096"^^xsd:string) AnnotationAssertion( "ORDO:5448"^^xsd:string) AnnotationAssertion( "ORDO:63273"^^xsd:string) AnnotationAssertion( "distal muscle weakness"^^xsd:string) AnnotationAssertion( "distal muscular dystrophies"^^xsd:string) AnnotationAssertion( "distal muscular dystrophy"^^xsd:string) AnnotationAssertion( "distal myopathy, Markesbery Griggs type"^^xsd:string) AnnotationAssertion( "distal myopathy, early-onset, autosomal dominant"^^xsd:string) AnnotationAssertion( "distal myopathy, late hereditary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11720"^^xsd:string) AnnotationAssertion(rdfs:label "distal myopathy"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease VII) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/"^^xsd:string) "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:232800"^^xsd:string) AnnotationAssertion( "OMIA:000421"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.09"^^xsd:string) AnnotationAssertion( "MESH:D006014"^^xsd:string) AnnotationAssertion( "NCI:C118437"^^xsd:string) AnnotationAssertion( "ORDO:371"^^xsd:string) AnnotationAssertion( "GSD VII"^^xsd:string) AnnotationAssertion( "GSD7"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 7"^^xsd:string) AnnotationAssertion( "Muscle Phosphofructokinase Deficiency"^^xsd:string) AnnotationAssertion( "PFKM deficiencies"^^xsd:string) AnnotationAssertion( "PFKM deficiency"^^xsd:string) AnnotationAssertion( "Tarui Disease"^^xsd:string) AnnotationAssertion( "Tarui's disease"^^xsd:string) AnnotationAssertion( "Taruis disease"^^xsd:string) AnnotationAssertion( "glycogen storage disease type VII"^^xsd:string) AnnotationAssertion( "glycogenosis 7"^^xsd:string) AnnotationAssertion( "muscle phosphofructokinase deficiencies"^^xsd:string) AnnotationAssertion( "phosphofructokinase myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11721"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease VII"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myotonic dystrophy type 1) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myotonic_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string) Annotation( "http://omim.org/entry/160900"^^xsd:string) Annotation( "http://www.genome.gov/25521207"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1165/"^^xsd:string) "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)"^^xsd:string) AnnotationAssertion( "MIM:160900"^^xsd:string) AnnotationAssertion( "GARD:8310"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.11"^^xsd:string) AnnotationAssertion( "ICD9CM:359.21"^^xsd:string) AnnotationAssertion( "NCI:C84679"^^xsd:string) AnnotationAssertion( "NCI:C84914"^^xsd:string) AnnotationAssertion( "DM"^^xsd:string) AnnotationAssertion( "DM1"^^xsd:string) AnnotationAssertion( "Myotonia Dystrophica"^^xsd:string) AnnotationAssertion( "Myotonic Dystrophy 1"^^xsd:string) AnnotationAssertion( "PROMM"^^xsd:string) AnnotationAssertion( "PROMM (Proximal Myotonic Myopathy)"^^xsd:string) AnnotationAssertion( "Proximal Myotonic Myopathies"^^xsd:string) AnnotationAssertion( "Ricker syndrome"^^xsd:string) AnnotationAssertion( "Steinert disease"^^xsd:string) AnnotationAssertion( "Steinert myotonic dystrophy"^^xsd:string) AnnotationAssertion( "Steinert myotonic dystrophy syndrome"^^xsd:string) AnnotationAssertion( "Steinert's disease"^^xsd:string) AnnotationAssertion( "Steinerts disease"^^xsd:string) AnnotationAssertion( "congenital myotonic dystrophies"^^xsd:string) AnnotationAssertion( "congenital myotonic dystrophy"^^xsd:string) AnnotationAssertion( "dystrophia myotonica"^^xsd:string) AnnotationAssertion( "dystrophia myotonica 1"^^xsd:string) AnnotationAssertion( "myotonia atrophica"^^xsd:string) AnnotationAssertion( "myotonic dystrophies"^^xsd:string) AnnotationAssertion( "myotonic dystrophy of Steinert"^^xsd:string) AnnotationAssertion( "proximal myotonic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11722"^^xsd:string) AnnotationAssertion(rdfs:label "myotonic dystrophy type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Duchenne muscular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy"^^xsd:string) Annotation( "http://omim.org/entry/300377"^^xsd:string) Annotation( "http://www.genome.gov/19518854"^^xsd:string) "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310200"^^xsd:string) AnnotationAssertion( "OMIA:001081"^^xsd:string) AnnotationAssertion( "EFO:0000429"^^xsd:string) AnnotationAssertion( "GARD:6291"^^xsd:string) AnnotationAssertion( "MESH:D020388"^^xsd:string) AnnotationAssertion( "MONDO:0010679"^^xsd:string) AnnotationAssertion( "NCI:C75482"^^xsd:string) AnnotationAssertion( "DMD"^^xsd:string) AnnotationAssertion( "DYSTROPHINOPATHIES"^^xsd:string) AnnotationAssertion( "Duchenne Type Progressive Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Duchenne and Becker muscular dystrophy"^^xsd:string) AnnotationAssertion( "Duchenne-Becker muscular dystrophy"^^xsd:string) AnnotationAssertion( "childhood pseudohypertrophic muscular dystrophy"^^xsd:string) AnnotationAssertion( "muscular dystrophy, Duchenne and Becker types"^^xsd:string) AnnotationAssertion( "muscular dystrophy, Duchenne type"^^xsd:string) AnnotationAssertion( "pseudohypertrophic muscular dystrophy"^^xsd:string) AnnotationAssertion( "pseudohypertrophic progressive muscular dystrophy, Duchenne type"^^xsd:string) AnnotationAssertion( "INTERMEDIATE MUSCULAR DYSTROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "X-linked DMD-related dystrophinopathy"^^xsd:string) AnnotationAssertion( "DOID:11723"^^xsd:string) AnnotationAssertion(rdfs:label "Duchenne muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (limb-girdle muscular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1408/"^^xsd:string) "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000758"^^xsd:string) AnnotationAssertion( "GARD:6907"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.03"^^xsd:string) AnnotationAssertion( "MESH:D049288"^^xsd:string) AnnotationAssertion( "MIM:PS609308"^^xsd:string) AnnotationAssertion( "MONDO:0016971"^^xsd:string) AnnotationAssertion( "NCI:C84828"^^xsd:string) AnnotationAssertion( "ORDO:263"^^xsd:string) AnnotationAssertion( "Erb's muscular dystrophy"^^xsd:string) AnnotationAssertion( "Leyden-Mbius muscular dystrophy"^^xsd:string) AnnotationAssertion( "Limb-Girdle Syndrome"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophies"^^xsd:string) AnnotationAssertion( "myopathic limb-girdle syndrome"^^xsd:string) AnnotationAssertion( "LIMB-GIRDLE MUSCULAR DYSTROPHY, DOMINANT"^^xsd:string) AnnotationAssertion( "LIMB-GIRDLE MUSCULAR DYSTROPHY, RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11724"^^xsd:string) AnnotationAssertion(rdfs:label "limb-girdle muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (Cornelia de Lange syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome"^^xsd:string) Annotation( "http://www.omim.org/entry/122470"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract"^^xsd:string) "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10109"^^xsd:string) AnnotationAssertion( "MESH:D003635"^^xsd:string) AnnotationAssertion( "MIM:PS122470"^^xsd:string) AnnotationAssertion( "NCI:C75016"^^xsd:string) AnnotationAssertion( "ORDO:199"^^xsd:string) AnnotationAssertion( "BDLS"^^xsd:string) AnnotationAssertion( "Brachmann De Lange syndrome"^^xsd:string) AnnotationAssertion( "CDL"^^xsd:string) AnnotationAssertion( "CDLS"^^xsd:string) AnnotationAssertion( "X-linked CDLS"^^xsd:string) AnnotationAssertion( "de Lange syndrome"^^xsd:string) AnnotationAssertion( "de Lange's syndrome"^^xsd:string) AnnotationAssertion( "typus degenerativus amstelodamensis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11725"^^xsd:string) AnnotationAssertion(rdfs:label "Cornelia de Lange syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Emery-Dreifuss muscular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy"^^xsd:string) "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000463"^^xsd:string) AnnotationAssertion( "GARD:6329"^^xsd:string) AnnotationAssertion( "MESH:D020389"^^xsd:string) AnnotationAssertion( "MIM:PS310300"^^xsd:string) AnnotationAssertion( "MONDO:0016830"^^xsd:string) AnnotationAssertion( "NCI:C84685"^^xsd:string) AnnotationAssertion( "ORDO:261"^^xsd:string) AnnotationAssertion( "EDMD"^^xsd:string) AnnotationAssertion( "Emery Dreifuss syndrome"^^xsd:string) AnnotationAssertion( "Emery-Dreifuss type muscular dystrophy"^^xsd:string) AnnotationAssertion( "benign scapuloperoneal muscular dystrophy with cardiomyopathy"^^xsd:string) AnnotationAssertion( "benign scapuloperoneal muscular dystrophy with early contractures"^^xsd:string) AnnotationAssertion( "humeroperoneal neuromuscular disease"^^xsd:string) AnnotationAssertion( "X-linked Emery-Dreifuss muscular dystrophy"^^xsd:string) AnnotationAssertion( "autosomal dominant Emery Dreifuss muscular dystrophy"^^xsd:string) AnnotationAssertion( "autosomal recessive Emery Dreifuss muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11726"^^xsd:string) AnnotationAssertion(rdfs:label "Emery-Dreifuss muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (facioscapulohumeral muscular dystrophy) AnnotationAssertion(Annotation( "MESH:D020391"^^xsd:string) "An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)"^^xsd:string) AnnotationAssertion( "EFO:0000491"^^xsd:string) AnnotationAssertion( "GARD:9941"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.02"^^xsd:string) AnnotationAssertion( "MESH:D020391"^^xsd:string) AnnotationAssertion( "MIM:PS158900"^^xsd:string) AnnotationAssertion( "MONDO:0001347"^^xsd:string) AnnotationAssertion( "NCI:C84704"^^xsd:string) AnnotationAssertion( "FMD"^^xsd:string) AnnotationAssertion( "FSH Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "FSHD"^^xsd:string) AnnotationAssertion( "Facio-Scapulo-Humeral Dystrophy"^^xsd:string) AnnotationAssertion( "Facioscapulohumeral Type Progressive Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Facioscapuloperoneal Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Landouzy Dejerine dystrophy"^^xsd:string) AnnotationAssertion( "Landouzy-Dejerine dystrophies"^^xsd:string) AnnotationAssertion( "Landouzy-Dejerine muscular dystrophy"^^xsd:string) AnnotationAssertion( "facioscapulohumeral atrophies"^^xsd:string) AnnotationAssertion( "facioscapulohumeral atrophy"^^xsd:string) AnnotationAssertion( "facioscapulohumeral muscular dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11727"^^xsd:string) AnnotationAssertion(rdfs:label "facioscapulohumeral muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (Lyme disease) AnnotationAssertion(Annotation( "http://www.cdc.gov/lyme/transmission/index.html"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008510"^^xsd:string) AnnotationAssertion( "GARD:12073"^^xsd:string) AnnotationAssertion( "ICD10CM:A69.2"^^xsd:string) AnnotationAssertion( "ICD9CM:088.81"^^xsd:string) AnnotationAssertion( "MESH:D008193"^^xsd:string) AnnotationAssertion( "NCI:C45161"^^xsd:string) AnnotationAssertion( "Bannwarth syndrome"^^xsd:string) AnnotationAssertion( "Bannworth's syndrome"^^xsd:string) AnnotationAssertion( "Lyme Arthritis"^^xsd:string) AnnotationAssertion( "Lyme Borreliosis"^^xsd:string) AnnotationAssertion( "lyme neuroborreliosis"^^xsd:string) AnnotationAssertion( "neuroborreliosis"^^xsd:string) AnnotationAssertion( "neurological Lyme disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11729"^^xsd:string) AnnotationAssertion(rdfs:label "Lyme disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (odontoclasia) AnnotationAssertion( "The active destruction of the deciduous teeth of children by a process that seems to differ from caries. One of its distinguishing features is that the permanent teeth are not affected. B. G. Bibby, Food and the Teeth (1990) 270:61."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:521.05"^^xsd:string) AnnotationAssertion( "RDO:9002438"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11736"^^xsd:string) AnnotationAssertion(rdfs:label "odontoclasia"^^xsd:string) SubClassOf( ) # Class: (parametrium malignant neoplasm) AnnotationAssertion(Annotation( "https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.3"^^xsd:string) "A uterine adnexa cancer that is located_in the parametrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C57.3"^^xsd:string) AnnotationAssertion( "ICD9CM:183.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11746"^^xsd:string) AnnotationAssertion(rdfs:label "parametrium malignant neoplasm"^^xsd:string) SubClassOf( ) # Class: (uterine adnexa cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6043913"^^xsd:string) "A uterine cancer that is located_in the adnexa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C57.4"^^xsd:string) AnnotationAssertion( "ICD9CM:183"^^xsd:string) AnnotationAssertion( "ICD9CM:183.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11747"^^xsd:string) AnnotationAssertion(rdfs:label "uterine adnexa cancer"^^xsd:string) SubClassOf( ) # Class: (round ligament malignant neoplasm) AnnotationAssertion(Annotation( "https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.20"^^xsd:string) "A uterine adnexa cancer that is located_in the round ligament. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C57.2"^^xsd:string) AnnotationAssertion( "ICD9CM:183.5"^^xsd:string) AnnotationAssertion( "malignant neoplasm of round ligament"^^xsd:string) AnnotationAssertion( "malignant neoplasm of round ligament of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11748"^^xsd:string) AnnotationAssertion(rdfs:label "round ligament malignant neoplasm"^^xsd:string) SubClassOf( ) # Class: (Bordetella parapertussis whooping cough) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pertussis"^^xsd:string) "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A37.1"^^xsd:string) AnnotationAssertion( "ICD9CM:033.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11750"^^xsd:string) AnnotationAssertion(rdfs:label "Bordetella parapertussis whooping cough"^^xsd:string) SubClassOf( ) # Class: (acute endophthalmitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:360.01"^^xsd:string) AnnotationAssertion( "RDO:9003030"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11752"^^xsd:string) AnnotationAssertion(rdfs:label "acute endophthalmitis"^^xsd:string) SubClassOf( ) # Class: (siderosis of eye) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30787536"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3390063"^^xsd:string) "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.32"^^xsd:string) AnnotationAssertion( "ICD9CM:360.23"^^xsd:string) AnnotationAssertion( "siderosis of globe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11754"^^xsd:string) AnnotationAssertion(rdfs:label "siderosis of eye"^^xsd:string) SubClassOf( ) # Class: (choledocholithiasis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000274.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK441961/"^^xsd:string) "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000865"^^xsd:string) AnnotationAssertion( "MESH:D042883"^^xsd:string) AnnotationAssertion( "common bile duct cholelithiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11755"^^xsd:string) AnnotationAssertion(rdfs:label "choledocholithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (iron deficiency anemia) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000584.htm"^^xsd:string) Annotation( "https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia"^^xsd:string) "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:280.8"^^xsd:string) AnnotationAssertion( "MESH:D018798"^^xsd:string) AnnotationAssertion( "MONDO:0001356"^^xsd:string) AnnotationAssertion( "iron deficiency anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11758"^^xsd:string) AnnotationAssertion(rdfs:label "iron deficiency anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypochromic anemia) AnnotationAssertion(Annotation( "MESH:D000747"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Hypochromic_anemia"^^xsd:string) "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D50"^^xsd:string) AnnotationAssertion( "MESH:D000747"^^xsd:string) AnnotationAssertion( "MONDO:0001357"^^xsd:string) AnnotationAssertion( "NCI:C34380"^^xsd:string) AnnotationAssertion( "chloroses"^^xsd:string) AnnotationAssertion( "chlorosis"^^xsd:string) AnnotationAssertion( "hypochromic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11759"^^xsd:string) AnnotationAssertion(rdfs:label "hypochromic anemia"^^xsd:string) SubClassOf( ) # Class: (bronchial disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11685087"^^xsd:string) "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002018"^^xsd:string) AnnotationAssertion( "MESH:D001982"^^xsd:string) AnnotationAssertion( "bronchial diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1176"^^xsd:string) AnnotationAssertion(rdfs:label "bronchial disease"^^xsd:string) SubClassOf( ) # Class: (Kohler's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/K%C3%B6hler_disease"^^xsd:string) "An osteochondrosis that results_in death and collapse located_in navicular bone of foot. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6842"^^xsd:string) AnnotationAssertion( "ICD9CM:732.5"^^xsd:string) AnnotationAssertion( "Kohler disease"^^xsd:string) AnnotationAssertion( "juvenile osteochondrosis of foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11760"^^xsd:string) AnnotationAssertion(rdfs:label "Kohler's disease"^^xsd:string) SubClassOf( ) # Class: (blind hypotensive eye) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:360.41"^^xsd:string) AnnotationAssertion( "RDO:9004882"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11766"^^xsd:string) AnnotationAssertion(rdfs:label "blind hypotensive eye"^^xsd:string) SubClassOf( ) # Class: (spontaneous ocular nystagmus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H55.03"^^xsd:string) AnnotationAssertion( "ICD9CM:379.53"^^xsd:string) AnnotationAssertion( "RDO:9004265"^^xsd:string) AnnotationAssertion( "ocular nystagmus"^^xsd:string) AnnotationAssertion( "searching eye movements"^^xsd:string) AnnotationAssertion( "visual deprivation nystagmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11771"^^xsd:string) AnnotationAssertion(rdfs:label "spontaneous ocular nystagmus"^^xsd:string) SubClassOf( ) # Class: (leukocoria) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.53"^^xsd:string) AnnotationAssertion( "ICD9CM:360.44"^^xsd:string) AnnotationAssertion( "leucocoria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11772"^^xsd:string) AnnotationAssertion(rdfs:label "leukocoria"^^xsd:string) SubClassOf( ) # Class: (absolute glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/"^^xsd:string) "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:360.42"^^xsd:string) AnnotationAssertion( "blind hypertensive eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11776"^^xsd:string) AnnotationAssertion(rdfs:label "absolute glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (regular astigmatism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.22"^^xsd:string) AnnotationAssertion( "ICD9CM:367.21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11781"^^xsd:string) AnnotationAssertion(rdfs:label "regular astigmatism"^^xsd:string) SubClassOf( ) # Class: (astigmatism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Astigmatism_%28eye%29"^^xsd:string) "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603047"^^xsd:string) AnnotationAssertion( "EFO:0004222"^^xsd:string) AnnotationAssertion( "EFO:1002040"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.2"^^xsd:string) AnnotationAssertion( "ICD9CM:367.2"^^xsd:string) AnnotationAssertion( "MESH:D001251"^^xsd:string) AnnotationAssertion( "corneal astigmatism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11782"^^xsd:string) AnnotationAssertion(rdfs:label "astigmatism"^^xsd:string) SubClassOf( ) # Class: (necrosis of ear ossicle) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:385.24"^^xsd:string) AnnotationAssertion( "partial loss or necrosis of ear ossicles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11783"^^xsd:string) AnnotationAssertion(rdfs:label "necrosis of ear ossicle"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic sequestration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:289.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11786"^^xsd:string) AnnotationAssertion(rdfs:label "splenic sequestration"^^xsd:string) SubClassOf( ) # Class: (chronic congestive splenomegaly) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D73.2"^^xsd:string) AnnotationAssertion( "ICD9CM:289.51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11787"^^xsd:string) AnnotationAssertion(rdfs:label "chronic congestive splenomegaly"^^xsd:string) SubClassOf( ) # Class: (phthisical cornea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:371.05"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11793"^^xsd:string) AnnotationAssertion(rdfs:label "phthisical cornea"^^xsd:string) SubClassOf( ) # Class: (chronic laryngitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263"^^xsd:string) "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J37.0"^^xsd:string) AnnotationAssertion( "ICD9CM:476.0"^^xsd:string) AnnotationAssertion( "NCI:C26975"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11797"^^xsd:string) AnnotationAssertion(rdfs:label "chronic laryngitis"^^xsd:string) SubClassOf( ) # Class: (pericardial effusion) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pericardial_effusion"^^xsd:string) "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010490"^^xsd:string) AnnotationAssertion( "NCI:C3319"^^xsd:string) AnnotationAssertion( "chylopericardium"^^xsd:string) AnnotationAssertion( "chylopericardiums"^^xsd:string) AnnotationAssertion( "pericardial effusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:118"^^xsd:string) AnnotationAssertion(rdfs:label "pericardial effusion"^^xsd:string) SubClassOf( ) # Class: (protein-energy malnutrition) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition"^^xsd:string) "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009563"^^xsd:string) AnnotationAssertion( "ICD10CM:E46"^^xsd:string) AnnotationAssertion( "ICD9CM:263.9"^^xsd:string) AnnotationAssertion( "MESH:D011502"^^xsd:string) AnnotationAssertion( "NCI:C34952"^^xsd:string) AnnotationAssertion( "protein calorie malnutrition"^^xsd:string) AnnotationAssertion( "protein-energy malnutritions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11801"^^xsd:string) AnnotationAssertion(rdfs:label "protein-energy malnutrition"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder neck cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.5"^^xsd:string) AnnotationAssertion( "ICD9CM:188.5"^^xsd:string) AnnotationAssertion( "malignant neoplasm of urinary bladder neck"^^xsd:string) AnnotationAssertion( "malignant tumor of bladder neck"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11809"^^xsd:string) AnnotationAssertion(rdfs:label "bladder neck cancer"^^xsd:string) SubClassOf( ) # Class: (urinary bladder posterior wall cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.4"^^xsd:string) AnnotationAssertion( "ICD9CM:188.4"^^xsd:string) AnnotationAssertion( "RDO:9001948"^^xsd:string) AnnotationAssertion( "malignant neoplasm of posterior wall of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11811"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder posterior wall cancer"^^xsd:string) SubClassOf( ) # Class: (bladder sarcoma) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas"^^xsd:string) "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4669"^^xsd:string) AnnotationAssertion( "sarcoma of bladder"^^xsd:string) AnnotationAssertion( "sarcoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11812"^^xsd:string) AnnotationAssertion(rdfs:label "bladder sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder trigone cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.0"^^xsd:string) AnnotationAssertion( "ICD9CM:188.0"^^xsd:string) AnnotationAssertion( "RDO:9001950"^^xsd:string) AnnotationAssertion( "malignant neoplasm of trigone of urinary bladder"^^xsd:string) AnnotationAssertion( "malignant tumor of trigone of bladder"^^xsd:string) AnnotationAssertion( "malignant tumor of trigone of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11813"^^xsd:string) AnnotationAssertion(rdfs:label "bladder trigone cancer"^^xsd:string) SubClassOf( ) # Class: (urinary bladder anterior wall cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.3"^^xsd:string) AnnotationAssertion( "ICD9CM:188.3"^^xsd:string) AnnotationAssertion( "RDO:9001951"^^xsd:string) AnnotationAssertion( "malignant neoplasm of anterior wall of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11814"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder anterior wall cancer"^^xsd:string) SubClassOf( ) # Class: (vitreous syneresis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003048"^^xsd:string) AnnotationAssertion( "ICD10CM:H43.81"^^xsd:string) AnnotationAssertion( "ICD9CM:379.21"^^xsd:string) AnnotationAssertion( "RDO:9003069"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:379.21"^^xsd:string) "Vitreous degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11816"^^xsd:string) AnnotationAssertion(rdfs:label "vitreous syneresis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urachus cancer) AnnotationAssertion( "GARD:7836"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.7"^^xsd:string) AnnotationAssertion( "ICD9CM:188.7"^^xsd:string) AnnotationAssertion( "MESH:C536475"^^xsd:string) AnnotationAssertion( "Urachal carcinoma"^^xsd:string) AnnotationAssertion( "malignant tumor of urachus"^^xsd:string) AnnotationAssertion( "urachal cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11817"^^xsd:string) AnnotationAssertion(rdfs:label "urachus cancer"^^xsd:string) SubClassOf( ) # Class: (ureteric orifice cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.6"^^xsd:string) AnnotationAssertion( "ICD9CM:188.6"^^xsd:string) AnnotationAssertion( "NCI:C12337"^^xsd:string) AnnotationAssertion( "malignant neoplasm of ureteric orifice of urinary bladder"^^xsd:string) AnnotationAssertion( "malignant tumor of ureteric orifice"^^xsd:string) AnnotationAssertion( "orifice of the ureter"^^xsd:string) AnnotationAssertion( "orifice of the ureter cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11818"^^xsd:string) AnnotationAssertion(rdfs:label "ureteric orifice cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ureter_cancer"^^xsd:string) "A urinary system cancer that is located_in the ureter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C66"^^xsd:string) AnnotationAssertion( "ICD9CM:189.2"^^xsd:string) AnnotationAssertion( "MIM:191600"^^xsd:string) AnnotationAssertion( "NCI:C7543"^^xsd:string) AnnotationAssertion( "cancer of ureter"^^xsd:string) AnnotationAssertion( "malignant tumour of ureter"^^xsd:string) AnnotationAssertion( "malignant ureteral tumor"^^xsd:string) AnnotationAssertion( "ureter cancers"^^xsd:string) AnnotationAssertion( "ureteral cancer"^^xsd:string) AnnotationAssertion( "ureteral cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11819"^^xsd:string) AnnotationAssertion(rdfs:label "ureter cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder dome cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C67.1"^^xsd:string) AnnotationAssertion( "ICD9CM:188.1"^^xsd:string) AnnotationAssertion( "NCI:C12332"^^xsd:string) AnnotationAssertion( "RDO:9001953"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C12332"^^xsd:string) "Superior Surface of bladder"^^xsd:string) AnnotationAssertion( "Superior Surface of bladder cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of apex of urinary bladder"^^xsd:string) AnnotationAssertion( "malignant neoplasm of dome of urinary bladder"^^xsd:string) AnnotationAssertion( "malignant tumor of vault of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11820"^^xsd:string) AnnotationAssertion(rdfs:label "bladder dome cancer"^^xsd:string) SubClassOf( ) # Class: (bladder lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6164"^^xsd:string) AnnotationAssertion( "Lymphoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11821"^^xsd:string) AnnotationAssertion(rdfs:label "bladder lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatorenal syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK470565/"^^xsd:string) "An acute kidney failure that is characterized by severe renal vasoconstriction. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6610"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.7"^^xsd:string) AnnotationAssertion( "ICD9CM:572.4"^^xsd:string) AnnotationAssertion( "MESH:D006530"^^xsd:string) AnnotationAssertion( "NCI:C113400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11823"^^xsd:string) AnnotationAssertion(rdfs:label "hepatorenal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multicentric reticulohistiocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23130232"^^xsd:string) "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7103"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.81"^^xsd:string) AnnotationAssertion( "MONDO:0015347"^^xsd:string) AnnotationAssertion( "NCI:C27896"^^xsd:string) AnnotationAssertion( "ORDO:139436"^^xsd:string) AnnotationAssertion( "lipoid dermatoarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11824"^^xsd:string) AnnotationAssertion(rdfs:label "multicentric reticulohistiocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (degenerative myopia) AnnotationAssertion(Annotation( "MESH:D047728"^^xsd:string) "Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS."^^xsd:string) AnnotationAssertion( "EFO:0004207"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.2"^^xsd:string) AnnotationAssertion( "ICD9CM:360.21"^^xsd:string) AnnotationAssertion( "MESH:D047728"^^xsd:string) AnnotationAssertion( "NCI:C157149"^^xsd:string) AnnotationAssertion( "RDO:0007546"^^xsd:string) AnnotationAssertion( "Degenerative Myopias"^^xsd:string) AnnotationAssertion( "Pathological Myopia"^^xsd:string) AnnotationAssertion( "Pathological Myopias"^^xsd:string) AnnotationAssertion( "Progressive Myopia"^^xsd:string) AnnotationAssertion( "Progressive Myopias"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:360.21"^^xsd:string) "progressive high (degenerative) myopia"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:360.21"^^xsd:string) "progressive high myopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11829"^^xsd:string) AnnotationAssertion(rdfs:label "degenerative myopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myopia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myopia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=myopia"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548"^^xsd:string) "A refractive error characterized by the inability to see farther objects clearly. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003927"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.1"^^xsd:string) AnnotationAssertion( "ICD9CM:367.1"^^xsd:string) AnnotationAssertion( "MESH:D009216"^^xsd:string) AnnotationAssertion( "MIM:PS160700"^^xsd:string) AnnotationAssertion( "MONDO:0001384"^^xsd:string) AnnotationAssertion( "NCI:C102533"^^xsd:string) AnnotationAssertion( "myopias"^^xsd:string) AnnotationAssertion( "near vision"^^xsd:string) AnnotationAssertion( "near-sightedness"^^xsd:string) AnnotationAssertion( "nearsightedness"^^xsd:string) AnnotationAssertion( "short-sightedness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11830"^^xsd:string) AnnotationAssertion(rdfs:label "myopia"^^xsd:string) SubClassOf( ) # Class: (cortical blindness) AnnotationAssertion(Annotation( "MESH:D019575"^^xsd:string) "Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.61"^^xsd:string) AnnotationAssertion( "ICD9CM:377.75"^^xsd:string) AnnotationAssertion( "MESH:D019575"^^xsd:string) AnnotationAssertion( "NCI:C118707"^^xsd:string) AnnotationAssertion( "Anton Babinski syndrome"^^xsd:string) AnnotationAssertion( "Anton Syndrome"^^xsd:string) AnnotationAssertion( "Anton's Syndrome"^^xsd:string) AnnotationAssertion( "Antons Syndrome"^^xsd:string) AnnotationAssertion( "Blindness, Cortical, Post-Ictal"^^xsd:string) AnnotationAssertion( "Blindness, Cortical, Transient"^^xsd:string) AnnotationAssertion( "Psychic Denial of Blindness"^^xsd:string) AnnotationAssertion( "Reversible Cortical Blindness"^^xsd:string) AnnotationAssertion( "Reversible Cortical Blindnesses"^^xsd:string) AnnotationAssertion( "Transient Anton's Syndrome"^^xsd:string) AnnotationAssertion( "Transient Antons Syndrome"^^xsd:string) AnnotationAssertion( "transient Anton syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11831"^^xsd:string) AnnotationAssertion(rdfs:label "cortical blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visual epilepsy) AnnotationAssertion(Annotation( "PMID:25760720"^^xsd:string) "Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere."^^xsd:string) AnnotationAssertion( "MONDO:0001386"^^xsd:string) AnnotationAssertion( "NCI:C3980"^^xsd:string) AnnotationAssertion( "COVE"^^xsd:string) AnnotationAssertion( "Childhood occipital visual epilepsy"^^xsd:string) AnnotationAssertion( "Gastaut syndrome"^^xsd:string) AnnotationAssertion( "Sensory Seizure"^^xsd:string) AnnotationAssertion( "Sensory Seizures"^^xsd:string) AnnotationAssertion( "Somatosensory Seizure"^^xsd:string) AnnotationAssertion( "idiopathic childhood occipital epilepsy–Gastaut type"^^xsd:string) AnnotationAssertion( "late onset benign occipital epilepsy"^^xsd:string) AnnotationAssertion( "somatosensory seizures"^^xsd:string) AnnotationAssertion( "visual seizure"^^xsd:string) AnnotationAssertion( "visual seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11832"^^xsd:string) AnnotationAssertion(rdfs:label "visual epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (clubfoot) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Club_foot"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17610748"^^xsd:string) "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119800"^^xsd:string) AnnotationAssertion( "ICD10CM:Q66.0"^^xsd:string) AnnotationAssertion( "ICD10CM:Q66.89"^^xsd:string) AnnotationAssertion( "ICD9CM:754.51"^^xsd:string) AnnotationAssertion( "MESH:D003025"^^xsd:string) AnnotationAssertion( "NCI:C188148"^^xsd:string) AnnotationAssertion( "NCI:C84641"^^xsd:string) AnnotationAssertion( "CCF"^^xsd:string) AnnotationAssertion( "Congenital Clubfeet"^^xsd:string) AnnotationAssertion( "Congenital Clubfoot"^^xsd:string) AnnotationAssertion( "Congenital Talipes Equinovarus"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:754.51"^^xsd:string) "Congenital equinovarus"^^xsd:string) AnnotationAssertion( "Equinovarus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:249808002"^^xsd:string) "Equinovarus deformity of foot"^^xsd:string) AnnotationAssertion( "Idiopathic congenital talipes equinovarus"^^xsd:string) AnnotationAssertion( "PITX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "clubfeet"^^xsd:string) AnnotationAssertion( "congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly"^^xsd:string) AnnotationAssertion( "pie torcido"^^xsd:string) AnnotationAssertion( "pie torcidos"^^xsd:string) AnnotationAssertion( "talipes equinovarus"^^xsd:string) AnnotationAssertion( "BILATERAL TALIPES EQUINOVARUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11836"^^xsd:string) AnnotationAssertion(rdfs:label "clubfoot"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penis sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/"^^xsd:string) "A sarcoma and malignant neoplasm of penis that is located_in the penis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7730"^^xsd:string) AnnotationAssertion( "sarcoma of penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11838"^^xsd:string) AnnotationAssertion(rdfs:label "penis sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glans penis cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C60.1"^^xsd:string) AnnotationAssertion( "ICD9CM:187.2"^^xsd:string) AnnotationAssertion( "RDO:9002242"^^xsd:string) AnnotationAssertion( "malignant neoplasm of glans penis"^^xsd:string) AnnotationAssertion( "malignant tumor of glans penis"^^xsd:string) AnnotationAssertion( "malignant tumour of glans penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11839"^^xsd:string) AnnotationAssertion(rdfs:label "glans penis cancer"^^xsd:string) SubClassOf( ) # Class: (nephrotic syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nephrotic_syndrome"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults"^^xsd:string) "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004255"^^xsd:string) AnnotationAssertion( "ICD9CM:581"^^xsd:string) AnnotationAssertion( "MESH:D009404"^^xsd:string) AnnotationAssertion( "NCI:C34845"^^xsd:string) AnnotationAssertion( "Nephrotic Syndromes"^^xsd:string) AnnotationAssertion( "NEPHROTIC RANGE PROTEINURIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1184"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronary artery vasospasm) AnnotationAssertion(Annotation( "MESH:D003329"^^xsd:string) "Spasm of the large- or medium-sized coronary arteries."^^xsd:string) AnnotationAssertion( "MIM:163729"^^xsd:string) AnnotationAssertion( "EFO:0004225"^^xsd:string) AnnotationAssertion( "MESH:D003329"^^xsd:string) AnnotationAssertion( "NCI:C34515"^^xsd:string) AnnotationAssertion( "Coronary Artery Vasospasms"^^xsd:string) AnnotationAssertion( "Coronary Vasospasm"^^xsd:string) AnnotationAssertion( "Coronary Vasospasms"^^xsd:string) AnnotationAssertion( "coronary artery spasm"^^xsd:string) AnnotationAssertion( "Coronary artery spasm 1, susceptibility to"^^xsd:string) AnnotationAssertion( "Coronary artery spasm 2, susceptibility to"^^xsd:string) AnnotationAssertion( "Coronary artery spasm 3, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11840"^^xsd:string) AnnotationAssertion(rdfs:label "coronary artery vasospasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronary artery anomaly) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1534"^^xsd:string) AnnotationAssertion( "ICD9CM:746.85"^^xsd:string) AnnotationAssertion( "congenital anomaly of coronary artery"^^xsd:string) AnnotationAssertion( "congenital coronary artery anomaly"^^xsd:string) AnnotationAssertion( "coronary artery abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11843"^^xsd:string) AnnotationAssertion(rdfs:label "coronary artery anomaly"^^xsd:string) SubClassOf( ) # Class: (coronary thrombosis) AnnotationAssertion(Annotation( "MESH:D003328"^^xsd:string) "Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION."^^xsd:string) AnnotationAssertion( "RDO:0005278"^^xsd:string) AnnotationAssertion( "EFO:1000883"^^xsd:string) AnnotationAssertion( "ICD10CM:I22"^^xsd:string) AnnotationAssertion( "MESH:D003328"^^xsd:string) AnnotationAssertion( "coronary artery thrombosis"^^xsd:string) AnnotationAssertion( "coronary thromboses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11847"^^xsd:string) AnnotationAssertion(rdfs:label "coronary thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient refractive change) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:367.81"^^xsd:string) AnnotationAssertion( "RDO:9004037"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11850"^^xsd:string) AnnotationAssertion(rdfs:label "transient refractive change"^^xsd:string) SubClassOf( ) # Class: (indeterminate leprosy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/leprosy/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/"^^xsd:string) "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:030.2"^^xsd:string) AnnotationAssertion( "uncharacteristic leprosy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11851"^^xsd:string) AnnotationAssertion(rdfs:label "indeterminate leprosy"^^xsd:string) SubClassOf( ) # Class: (monocular exotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.11"^^xsd:string) AnnotationAssertion( "ICD9CM:378.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11853"^^xsd:string) AnnotationAssertion(rdfs:label "monocular exotropia"^^xsd:string) SubClassOf( ) # Class: (peripheral focal chorioretinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.04"^^xsd:string) AnnotationAssertion( "RDO:9003511"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11864"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral focal chorioretinitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (tibial neuropathy) AnnotationAssertion(Annotation( "MESH:D020429"^^xsd:string) "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)"^^xsd:string) AnnotationAssertion( "EFO:1001213"^^xsd:string) AnnotationAssertion( "MESH:D020429"^^xsd:string) AnnotationAssertion( "Internal Popliteal Neuropathy"^^xsd:string) AnnotationAssertion( "Lateral Plantar Neuropathies"^^xsd:string) AnnotationAssertion( "Lateral Plantar Neuropathy"^^xsd:string) AnnotationAssertion( "Medial Plantar Nerve Disease"^^xsd:string) AnnotationAssertion( "Medial Plantar Neuropathies"^^xsd:string) AnnotationAssertion( "Medial Plantar Neuropathy"^^xsd:string) AnnotationAssertion( "Medial Popliteal Neuropathies"^^xsd:string) AnnotationAssertion( "Medial Popliteal Neuropathy"^^xsd:string) AnnotationAssertion( "Post-Traumatic Tibial Neuropathies"^^xsd:string) AnnotationAssertion( "Post-Traumatic Tibial Neuropathy"^^xsd:string) AnnotationAssertion( "Posterior Tibial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Posterior Tibial Neuropathies"^^xsd:string) AnnotationAssertion( "Posterior Tibial Neuropathy"^^xsd:string) AnnotationAssertion( "Tibial Nerve Disease"^^xsd:string) AnnotationAssertion( "Tibial Nerve Diseases"^^xsd:string) AnnotationAssertion( "internal popliteal neuropathies"^^xsd:string) AnnotationAssertion( "tibial neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1187"^^xsd:string) AnnotationAssertion(rdfs:label "tibial neuropathy"^^xsd:string) SubClassOf( ) # Class: (Pick's disease) AnnotationAssertion(Annotation( "MESH:D020774"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK562226/"^^xsd:string) "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. (DO)"^^xsd:string) AnnotationAssertion( "MIM:172700"^^xsd:string) AnnotationAssertion( "EFO:0003096"^^xsd:string) AnnotationAssertion( "GARD:7392"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.01"^^xsd:string) AnnotationAssertion( "ICD9CM:331.11"^^xsd:string) AnnotationAssertion( "MESH:D020774"^^xsd:string) AnnotationAssertion( "NCI:C85008"^^xsd:string) AnnotationAssertion( "Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions"^^xsd:string) AnnotationAssertion( "Lobar Atrophies (Brain)"^^xsd:string) AnnotationAssertion( "Lobar Atrophy (Brain)"^^xsd:string) AnnotationAssertion( "Lobar Atrophy Of Brain"^^xsd:string) AnnotationAssertion( "Lobar Atrophy of the Brain"^^xsd:string) AnnotationAssertion( "Pick Disease"^^xsd:string) AnnotationAssertion( "Pick Disease Of Brain"^^xsd:string) AnnotationAssertion( "Pick Disease of the Brain"^^xsd:string) AnnotationAssertion( "Picks disease"^^xsd:string) AnnotationAssertion( "Picks disease of brain"^^xsd:string) AnnotationAssertion( "circumscribed lobar atrophy of the brain"^^xsd:string) AnnotationAssertion( "circumscribed lobar brain atrophy"^^xsd:string) AnnotationAssertion( "dementia in Pick's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11870"^^xsd:string) AnnotationAssertion(rdfs:label "Pick's disease"^^xsd:string) SubClassOf( ) # Class: (macular keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.11"^^xsd:string) AnnotationAssertion( "ICD9CM:370.22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11871"^^xsd:string) AnnotationAssertion(rdfs:label "macular keratitis"^^xsd:string) SubClassOf( ) # Class: (abnormal threshold of rods) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.61"^^xsd:string) AnnotationAssertion( "ICD9CM:368.63"^^xsd:string) AnnotationAssertion( "RDO:9003333"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:368.63"^^xsd:string) "abnormal dark adaptation curve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11874"^^xsd:string) AnnotationAssertion(rdfs:label "abnormal threshold of rods"^^xsd:string) SubClassOf( ) # Class: (denture stomatitis) AnnotationAssertion(Annotation( "MESH:D013282"^^xsd:string) "Inflammation of the mouth due to denture irritation."^^xsd:string) AnnotationAssertion( "EFO:1000893"^^xsd:string) AnnotationAssertion( "ICD10CM:K12.1"^^xsd:string) AnnotationAssertion( "MESH:D013282"^^xsd:string) AnnotationAssertion( "RDO:0006625"^^xsd:string) AnnotationAssertion( "Denture Stomatitides"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:528.9"^^xsd:string) "Denture sore mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11875"^^xsd:string) AnnotationAssertion(rdfs:label "denture stomatitis"^^xsd:string) SubClassOf( ) # Class: (mononeuropathy) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000780.htm"^^xsd:string) "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009558"^^xsd:string) AnnotationAssertion( "ICD10CM:G58.9"^^xsd:string) AnnotationAssertion( "MESH:D020422"^^xsd:string) AnnotationAssertion( "mononeuropathies"^^xsd:string) AnnotationAssertion( "mononeuropathy multiplex syndrome"^^xsd:string) AnnotationAssertion( "mononeuropathy multiplex syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1188"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureteral benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3427"^^xsd:string) AnnotationAssertion( "neoplasm of ureter"^^xsd:string) AnnotationAssertion( "ureteral tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11885"^^xsd:string) AnnotationAssertion(rdfs:label "ureteral benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23894911"^^xsd:string) "An ureteral benign neoplasm that derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6161"^^xsd:string) AnnotationAssertion( "ureteral leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11887"^^xsd:string) AnnotationAssertion(rdfs:label "ureter leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schwannoma of ureter) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6162"^^xsd:string) AnnotationAssertion( "ureteral schwannoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11888"^^xsd:string) AnnotationAssertion(rdfs:label "schwannoma of ureter"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (female breast nipple and areola cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22647686"^^xsd:string) "A female breast cancer that is located_in the nipple and areola. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:174.0"^^xsd:string) AnnotationAssertion( "RDO:9001784"^^xsd:string) AnnotationAssertion( "malignant neoplasm of nipple and areola of female breast"^^xsd:string) AnnotationAssertion( "malignant neoplasm of nipple or areola of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11889"^^xsd:string) AnnotationAssertion(rdfs:label "female breast nipple and areola cancer"^^xsd:string) SubClassOf( ) # Class: (vaginal cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=523460"^^xsd:string) "A female reproductive system cancer that is located_in the vagina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9348"^^xsd:string) AnnotationAssertion( "ICD10CM:C52"^^xsd:string) AnnotationAssertion( "ICD9CM:184.0"^^xsd:string) AnnotationAssertion( "NCI:C3437"^^xsd:string) AnnotationAssertion( "NCI:C7410"^^xsd:string) AnnotationAssertion( "cancer of the vagina"^^xsd:string) AnnotationAssertion( "cancer of vagina"^^xsd:string) AnnotationAssertion( "malignant neoplasm of vagina"^^xsd:string) AnnotationAssertion( "malignant tumor of vagina"^^xsd:string) AnnotationAssertion( "malignant vaginal tumor"^^xsd:string) AnnotationAssertion( "vagina cancer"^^xsd:string) AnnotationAssertion( "vagina cancers"^^xsd:string) AnnotationAssertion( "vaginal cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:119"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (labium majus cancer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16006794/"^^xsd:string) "A vulva cancer that is located_in the labium majus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C51.0"^^xsd:string) AnnotationAssertion( "ICD9CM:184.1"^^xsd:string) AnnotationAssertion( "NCI:C7638"^^xsd:string) AnnotationAssertion( "malignant neoplasm of labia majora"^^xsd:string) AnnotationAssertion( "malignant tumor of labia majora"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11905"^^xsd:string) AnnotationAssertion(rdfs:label "labium majus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ecthyma) AnnotationAssertion(Annotation( "MESH:D004473"^^xsd:string) "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000689"^^xsd:string) AnnotationAssertion( "MESH:D004473"^^xsd:string) AnnotationAssertion( "ecthymas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11907"^^xsd:string) AnnotationAssertion(rdfs:label "ecthyma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastroparesis) AnnotationAssertion(Annotation( "MESH:D018589"^^xsd:string) "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS."^^xsd:string) AnnotationAssertion( "EFO:1000948"^^xsd:string) AnnotationAssertion( "ICD10CM:K31.84"^^xsd:string) AnnotationAssertion( "ICD9CM:536.3"^^xsd:string) AnnotationAssertion( "MESH:D018589"^^xsd:string) AnnotationAssertion( "NCI:C80512"^^xsd:string) AnnotationAssertion( "Gastric Stases"^^xsd:string) AnnotationAssertion( "Gastric Stasis"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:536.3"^^xsd:string) "Gastroparalysis"^^xsd:string) AnnotationAssertion( "Gastropareses"^^xsd:string) AnnotationAssertion( "gastric atonia"^^xsd:string) AnnotationAssertion( "gastroparesis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11914"^^xsd:string) AnnotationAssertion(rdfs:label "gastroparesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tinea cruris) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tinea_cruris"^^xsd:string) "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:110.3"^^xsd:string) AnnotationAssertion( "MESH:D000084002"^^xsd:string) AnnotationAssertion( "NCI:C34535"^^xsd:string) AnnotationAssertion( "Dhobie itch"^^xsd:string) AnnotationAssertion( "dermatophytosis of groin & perianal area"^^xsd:string) AnnotationAssertion( "dermatophytosis of groin and perianal area"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11917"^^xsd:string) AnnotationAssertion(rdfs:label "tinea cruris"^^xsd:string) SubClassOf( ) # Class: (peripheral nervous system neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peripheral_nervous_system"^^xsd:string) "A nervous system cancer that is located in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002431"^^xsd:string) AnnotationAssertion( "MESH:D010524"^^xsd:string) AnnotationAssertion( "NCI:C3321"^^xsd:string) AnnotationAssertion( "NCI:C4972"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Neoplasms, Benign"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Neoplasms, Malignant"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Neoplastic Infiltration"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Tumor"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Tumors"^^xsd:string) AnnotationAssertion( "neoplasm of peripheral nerve"^^xsd:string) AnnotationAssertion( "peripheral nerve neoplasm"^^xsd:string) AnnotationAssertion( "peripheral nerve neoplasms"^^xsd:string) AnnotationAssertion( "peripheral nervous system benign neoplasms"^^xsd:string) AnnotationAssertion( "peripheral nervous system malignant neoplasms"^^xsd:string) AnnotationAssertion( "tumor of PNS"^^xsd:string) AnnotationAssertion( "tumour of cranial and spinal nerves"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1192"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nervous system neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tracheal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string) "A respiratory system cancer that is located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C33"^^xsd:string) AnnotationAssertion( "ICD9CM:162.0"^^xsd:string) AnnotationAssertion( "NCI:C9346"^^xsd:string) AnnotationAssertion( "malignant neoplasm of trachea"^^xsd:string) AnnotationAssertion( "malignant tracheal tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11920"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (head and neck cancer) AnnotationAssertion(Annotation( "http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Head_and_neck_cancer"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=257519"^^xsd:string) "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006859"^^xsd:string) AnnotationAssertion( "GARD:12425"^^xsd:string) AnnotationAssertion( "NCI:C3077"^^xsd:string) AnnotationAssertion( "cancer of head and neck"^^xsd:string) AnnotationAssertion( "head and neck malignant neoplasia"^^xsd:string) AnnotationAssertion( "head and neck neoplasm"^^xsd:string) AnnotationAssertion( "head and neck tumours"^^xsd:string) AnnotationAssertion( "head/neck neoplasm"^^xsd:string) AnnotationAssertion( "tumor of head and neck"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11934"^^xsd:string) AnnotationAssertion(rdfs:label "head and neck cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Creutzfeldt-Jakob disease) AnnotationAssertion(Annotation( "MESH:D007562"^^xsd:string) "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))"^^xsd:string) AnnotationAssertion( "MIM:123400"^^xsd:string) AnnotationAssertion( "EFO:0004226"^^xsd:string) AnnotationAssertion( "GARD:6956"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.0"^^xsd:string) AnnotationAssertion( "ICD9CM:046.1"^^xsd:string) AnnotationAssertion( "MESH:D007562"^^xsd:string) AnnotationAssertion( "NCI:C26802"^^xsd:string) AnnotationAssertion( "CJD"^^xsd:string) AnnotationAssertion( "Creutzfeldt Jacob Disease"^^xsd:string) AnnotationAssertion( "Creutzfeldt Jacob syndrome"^^xsd:string) AnnotationAssertion( "Creutzfeldt-Jakob syndrome"^^xsd:string) AnnotationAssertion( "New Variant Creutzfeldt Jakob Disease"^^xsd:string) AnnotationAssertion( "V CJD (variant Creutzfeldt Jakob disease)"^^xsd:string) AnnotationAssertion( "familial Creutzfeldt Jakob disease"^^xsd:string) AnnotationAssertion( "familial Creutzfeldt-Jakob diseases"^^xsd:string) AnnotationAssertion( "subacute spongiform encephalopathies"^^xsd:string) AnnotationAssertion( "subacute spongiform encephalopathy"^^xsd:string) AnnotationAssertion( "transmissible virus dementia"^^xsd:string) AnnotationAssertion( "CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC"^^xsd:string) AnnotationAssertion( "CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT"^^xsd:string) AnnotationAssertion( "CREUTZFELDT-JAKOB DISEASE, VARIANT"^^xsd:string) AnnotationAssertion( "sCJD"^^xsd:string) AnnotationAssertion( "vCJD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "protection against Creutzfeldt-Jakob disease"^^xsd:string) AnnotationAssertion( "DOID:11949"^^xsd:string) AnnotationAssertion(rdfs:label "Creutzfeldt-Jakob disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ischemic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27025"^^xsd:string) AnnotationAssertion( "RDO:9002718"^^xsd:string) AnnotationAssertion( "Ischemic peripheral neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1195"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic neuropathy"^^xsd:string) SubClassOf( ) # Class: (esophagitis) AnnotationAssertion(Annotation( "MESH:D004941"^^xsd:string) "INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA."^^xsd:string) AnnotationAssertion( "ICD10CM:K20"^^xsd:string) AnnotationAssertion( "ICD10CM:K20.9"^^xsd:string) AnnotationAssertion( "ICD9CM:530.1"^^xsd:string) AnnotationAssertion( "MESH:D004941"^^xsd:string) AnnotationAssertion( "NCI:C9224"^^xsd:string) AnnotationAssertion( "acute esophagitis"^^xsd:string) AnnotationAssertion( "esophagitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11963"^^xsd:string) AnnotationAssertion(rdfs:label "esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (postmenopausal atrophic vaginitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20003787"^^xsd:string) "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001271"^^xsd:string) AnnotationAssertion( "ICD10CM:N95.2"^^xsd:string) AnnotationAssertion( "ICD9CM:627.3"^^xsd:string) AnnotationAssertion( "MESH:D059268"^^xsd:string) AnnotationAssertion( "Atrophic Vaginitides"^^xsd:string) AnnotationAssertion( "Atrophic Vaginitis"^^xsd:string) AnnotationAssertion( "senile vaginitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11968"^^xsd:string) AnnotationAssertion(rdfs:label "postmenopausal atrophic vaginitis"^^xsd:string) SubClassOf( ) # Class: (synostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Synostosis"^^xsd:string) Annotation( "http://medical-dictionary.thefreedictionary.com/synostosis"^^xsd:string) "A dysostosis that results_in abnormal fusing of adjacent bones. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013580"^^xsd:string) AnnotationAssertion( "synostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11971"^^xsd:string) AnnotationAssertion(rdfs:label "synostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coloboma of optic nerve) AnnotationAssertion( "MIM:120430"^^xsd:string) AnnotationAssertion( "GARD:13354"^^xsd:string) AnnotationAssertion( "GARD:8502"^^xsd:string) AnnotationAssertion( "ICD10CM:Q14.2"^^xsd:string) AnnotationAssertion( "ICD9CM:377.23"^^xsd:string) AnnotationAssertion( "MESH:C535970"^^xsd:string) AnnotationAssertion( "COLOBOMA OF OPTIC DISC"^^xsd:string) AnnotationAssertion( "Congenital coloboma of the optic nerve"^^xsd:string) AnnotationAssertion( "Morning glory syndrome"^^xsd:string) AnnotationAssertion( "Optic nerve coloboma"^^xsd:string) AnnotationAssertion( "MORNING GLORY DISC ANOMALY"^^xsd:string) AnnotationAssertion( "OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11975"^^xsd:string) AnnotationAssertion(rdfs:label "coloboma of optic nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (botulism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Botulism"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Botulism"^^xsd:string) Annotation( "https://www.cdc.gov/botulism/index.html"^^xsd:string) "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005542"^^xsd:string) AnnotationAssertion( "GARD:943"^^xsd:string) AnnotationAssertion( "ICD10CM:A05.1"^^xsd:string) AnnotationAssertion( "MESH:D001906"^^xsd:string) AnnotationAssertion( "NCI:C84599"^^xsd:string) AnnotationAssertion( "botulism poisoning"^^xsd:string) AnnotationAssertion( "food poisoning due to clostridium botulinum"^^xsd:string) AnnotationAssertion( "infection due to clostridium botulinum"^^xsd:string) AnnotationAssertion( "intoxication with clostridium botulinum toxin"^^xsd:string) AnnotationAssertion( "toxico infectious botulism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11976"^^xsd:string) AnnotationAssertion(rdfs:label "botulism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (morbid obesity) AnnotationAssertion(Annotation( "MESH:D009767"^^xsd:string) "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2."^^xsd:string) AnnotationAssertion( "EFO:0001074"^^xsd:string) AnnotationAssertion( "ICD9CM:278.01"^^xsd:string) AnnotationAssertion( "MESH:D009767"^^xsd:string) AnnotationAssertion( "NCI:C34858"^^xsd:string) AnnotationAssertion( "morbid obesities"^^xsd:string) AnnotationAssertion( "severe obesities"^^xsd:string) AnnotationAssertion( "severe obesity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11981"^^xsd:string) AnnotationAssertion(rdfs:label "morbid obesity"^^xsd:string) SubClassOf( ) # Class: (Prader-Willi syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/prader-willi-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1330/"^^xsd:string) "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176270"^^xsd:string) AnnotationAssertion( "GARD:5575"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.11"^^xsd:string) AnnotationAssertion( "ICD9CM:759.81"^^xsd:string) AnnotationAssertion( "MESH:D011218"^^xsd:string) AnnotationAssertion( "NCI:C75463"^^xsd:string) AnnotationAssertion( "ORDO:739"^^xsd:string) AnnotationAssertion( "Labhart Willi Prader Fanconi syndrome"^^xsd:string) AnnotationAssertion( "Labhart Willi Syndrome"^^xsd:string) AnnotationAssertion( "PWS"^^xsd:string) AnnotationAssertion( "Prader Labhart Willi Syndrome"^^xsd:string) AnnotationAssertion( "Royer syndrome"^^xsd:string) AnnotationAssertion( "Royer's Syndrome"^^xsd:string) AnnotationAssertion( "Royers Syndrome"^^xsd:string) AnnotationAssertion( "PRADER-WILLI SYNDROME CHROMOSOME REGION"^^xsd:string) AnnotationAssertion( "PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6"^^xsd:string) AnnotationAssertion( "PWCR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11983"^^xsd:string) AnnotationAssertion(rdfs:label "Prader-Willi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypertrophic cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/cm/"^^xsd:string) "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000538"^^xsd:string) AnnotationAssertion( "ICD9CM:425.1"^^xsd:string) AnnotationAssertion( "MESH:D002312"^^xsd:string) AnnotationAssertion( "NCI:C34449"^^xsd:string) AnnotationAssertion( "ORDO:217568"^^xsd:string) AnnotationAssertion( "hypertrophic cardiomyopathies"^^xsd:string) AnnotationAssertion( "hypertrophic obstructive cardiomyopathies"^^xsd:string) AnnotationAssertion( "hypertrophic obstructive cardiomyopathy"^^xsd:string) AnnotationAssertion( "CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11984"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctival concretion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.12"^^xsd:string) AnnotationAssertion( "ICD9CM:372.54"^^xsd:string) AnnotationAssertion( "RDO:9003827"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11988"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival concretion"^^xsd:string) SubClassOf( ) # Class: (ulceroglandular tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string) "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A21.0"^^xsd:string) AnnotationAssertion( "ICD9CM:021.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11990"^^xsd:string) AnnotationAssertion(rdfs:label "ulceroglandular tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteopoikilosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteopoikilosis"^^xsd:string) "An osteosclerosis that results_in numerous bone islands located_in skeleton. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4158"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.8"^^xsd:string) AnnotationAssertion( "ICD9CM:756.53"^^xsd:string) AnnotationAssertion( "MESH:D010023"^^xsd:string) AnnotationAssertion( "NCI:C84985"^^xsd:string) AnnotationAssertion( "osteopoikiloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11991"^^xsd:string) AnnotationAssertion(rdfs:label "Osteopoikilosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrophy of testis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N50.0"^^xsd:string) AnnotationAssertion( "ICD9CM:608.3"^^xsd:string) AnnotationAssertion( "NCI:C123259"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11994"^^xsd:string) AnnotationAssertion(rdfs:label "atrophy of testis"^^xsd:string) SubClassOf( ) # Class: (spermatic cord torsion) AnnotationAssertion(Annotation( "MESH:D013086"^^xsd:string) "The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost."^^xsd:string) AnnotationAssertion( "MIM:187400"^^xsd:string) AnnotationAssertion( "RDO:0006594"^^xsd:string) AnnotationAssertion( "ICD10CM:N44.0"^^xsd:string) AnnotationAssertion( "ICD10CM:N44.00"^^xsd:string) AnnotationAssertion( "ICD10CM:N44.02"^^xsd:string) AnnotationAssertion( "ICD9CM:608.2"^^xsd:string) AnnotationAssertion( "MESH:D013086"^^xsd:string) AnnotationAssertion( "NCI:C26885"^^xsd:string) AnnotationAssertion( "spermatic cord torsions"^^xsd:string) AnnotationAssertion( "testicular torsion"^^xsd:string) AnnotationAssertion( "testicular torsions"^^xsd:string) AnnotationAssertion( "torsion of testicle"^^xsd:string) AnnotationAssertion( "torsion of testicular cord"^^xsd:string) AnnotationAssertion( "torsion of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11996"^^xsd:string) AnnotationAssertion(rdfs:label "spermatic cord torsion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatocele) AnnotationAssertion(Annotation( "MESH:D013088"^^xsd:string) "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions."^^xsd:string) AnnotationAssertion( "EFO:1001189"^^xsd:string) AnnotationAssertion( "ICD10CM:N43.4"^^xsd:string) AnnotationAssertion( "ICD10CM:N43.40"^^xsd:string) AnnotationAssertion( "ICD10CM:N50.3"^^xsd:string) AnnotationAssertion( "ICD9CM:608.1"^^xsd:string) AnnotationAssertion( "MESH:D013088"^^xsd:string) AnnotationAssertion( "NCI:C120909"^^xsd:string) AnnotationAssertion( "NCI:C3865"^^xsd:string) AnnotationAssertion( "Epididymal Cyst"^^xsd:string) AnnotationAssertion( "Epididymal Cysts"^^xsd:string) AnnotationAssertion( "Spermatoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:11997"^^xsd:string) AnnotationAssertion(rdfs:label "spermatocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female reproductive organ cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia"^^xsd:string) Annotation( "http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm"^^xsd:string) "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C57"^^xsd:string) AnnotationAssertion( "ICD9CM:184"^^xsd:string) AnnotationAssertion( "NCI:C3053"^^xsd:string) AnnotationAssertion( "NCI:C4913"^^xsd:string) AnnotationAssertion( "female reproductive cancer"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4913"^^xsd:string) "malignant Gynecologic tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of female genital organ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:120"^^xsd:string) AnnotationAssertion(rdfs:label "female reproductive organ cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tracheal lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6248"^^xsd:string) AnnotationAssertion( "lymphoma of the trachea"^^xsd:string) AnnotationAssertion( "lymphoma of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12001"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string) "A sarcoma and malignant tumor of trachea that is located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6050"^^xsd:string) AnnotationAssertion( "sarcoma of the trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12002"^^xsd:string) AnnotationAssertion(rdfs:label "trachea sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26066883"^^xsd:string) "A squamous cell carcinoma that is located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000600"^^xsd:string) AnnotationAssertion( "NCI:C4448"^^xsd:string) AnnotationAssertion( "RDO:9002271"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4448"^^xsd:string) "Tracheal Epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of trachea"^^xsd:string) AnnotationAssertion( "DOID:12003"^^xsd:string) AnnotationAssertion(rdfs:label "trachea squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trigeminal nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5122"^^xsd:string) AnnotationAssertion( "neoplasm of trigeminal nerve"^^xsd:string) AnnotationAssertion( "tumor of trigeminal nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1201"^^xsd:string) AnnotationAssertion(rdfs:label "trigeminal nerve neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior ischemic optic neuropathy) AnnotationAssertion(Annotation( "MESH:D018917"^^xsd:string) "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)"^^xsd:string) AnnotationAssertion( "EFO:1000809"^^xsd:string) AnnotationAssertion( "GARD:9790"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.01"^^xsd:string) AnnotationAssertion( "ICD9CM:377.41"^^xsd:string) AnnotationAssertion( "MESH:D018917"^^xsd:string) AnnotationAssertion( "Optic Nerve Ischemia"^^xsd:string) AnnotationAssertion( "Optic Nerve Ischemias"^^xsd:string) AnnotationAssertion( "ischemic optic neuropathies"^^xsd:string) AnnotationAssertion( "ischemic optic neuropathy"^^xsd:string) AnnotationAssertion( "posterior ischemic optic neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12010"^^xsd:string) AnnotationAssertion(rdfs:label "anterior ischemic optic neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontal lobe neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.1"^^xsd:string) AnnotationAssertion( "ICD9CM:191.1"^^xsd:string) AnnotationAssertion( "NCI:C5572"^^xsd:string) AnnotationAssertion( "RDO:9004697"^^xsd:string) AnnotationAssertion( "malignant neoplasm of frontal lobe"^^xsd:string) AnnotationAssertion( "neoplasm of frontal lobe"^^xsd:string) AnnotationAssertion( "tumor of frontal lobe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12016"^^xsd:string) AnnotationAssertion(rdfs:label "frontal lobe neoplasm"^^xsd:string) SubClassOf( ) # Class: (Conn's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conn%27s_syndrome"^^xsd:string) "An adrenal adenoma characterized by the over production of aldosterone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7456"^^xsd:string) AnnotationAssertion( "ICD10CM:E26.01"^^xsd:string) AnnotationAssertion( "ICD9CM:255.12"^^xsd:string) AnnotationAssertion( "NCI:C34510"^^xsd:string) AnnotationAssertion( "Conn syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12028"^^xsd:string) AnnotationAssertion(rdfs:label "Conn's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sympathetic ophthalmia) AnnotationAssertion(Annotation( "http://eyewiki.aao.org/Sympathetic_Ophthalmia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/"^^xsd:string) "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001205"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.13"^^xsd:string) AnnotationAssertion( "ICD9CM:360.11"^^xsd:string) AnnotationAssertion( "MESH:D009879"^^xsd:string) AnnotationAssertion( "sympathetic ophthalmias"^^xsd:string) AnnotationAssertion( "sympathetic uveitides"^^xsd:string) AnnotationAssertion( "sympathetic uveitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12029"^^xsd:string) AnnotationAssertion(rdfs:label "sympathetic ophthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (drug-induced mental disorder) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:292.8"^^xsd:string) AnnotationAssertion( "RDO:9003368"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1203"^^xsd:string) AnnotationAssertion(rdfs:label "drug-induced mental disorder"^^xsd:string) SubClassOf( ) # Class: (panuveitis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8577/panuveitis"^^xsd:string) "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001082"^^xsd:string) AnnotationAssertion( "GARD:8577"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.11"^^xsd:string) AnnotationAssertion( "ICD9CM:360.12"^^xsd:string) AnnotationAssertion( "MESH:D015864"^^xsd:string) AnnotationAssertion( "NCI:C84989"^^xsd:string) AnnotationAssertion( "diffuse uveitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12030"^^xsd:string) AnnotationAssertion(rdfs:label "panuveitis"^^xsd:string) SubClassOf( ) # Class: (kernicterus due to isoimmunization) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000721"^^xsd:string) AnnotationAssertion( "ICD10CM:P57.0"^^xsd:string) AnnotationAssertion( "ICD9CM:773.4"^^xsd:string) AnnotationAssertion( "NCI:C101270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12043"^^xsd:string) AnnotationAssertion(rdfs:label "kernicterus due to isoimmunization"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (allergic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergy"^^xsd:string) "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003785"^^xsd:string) AnnotationAssertion( "EFO:0005751"^^xsd:string) AnnotationAssertion( "ICD10CM:T78.40"^^xsd:string) AnnotationAssertion( "MESH:D006967"^^xsd:string) AnnotationAssertion( "MONDO:0005271"^^xsd:string) AnnotationAssertion( "NCI:C3114"^^xsd:string) AnnotationAssertion( "allergic hypersensitivity disease"^^xsd:string) AnnotationAssertion( "allergic reaction"^^xsd:string) AnnotationAssertion( "allergic reactions"^^xsd:string) AnnotationAssertion( "allergies"^^xsd:string) AnnotationAssertion( "allergy"^^xsd:string) AnnotationAssertion( "hypersensitivities"^^xsd:string) AnnotationAssertion( "hypersensitivity"^^xsd:string) AnnotationAssertion( "hypersensitivity reaction type I disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "eye allergy"^^xsd:string) AnnotationAssertion( "DOID:1205"^^xsd:string) AnnotationAssertion(rdfs:label "allergic disease"^^xsd:string) SubClassOf( ) # Class: (cryptococcosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cryptococcosis"^^xsd:string) "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007229"^^xsd:string) AnnotationAssertion( "GARD:6218"^^xsd:string) AnnotationAssertion( "ICD10CM:B45"^^xsd:string) AnnotationAssertion( "ICD9CM:117.5"^^xsd:string) AnnotationAssertion( "MESH:D003453"^^xsd:string) AnnotationAssertion( "NCI:C2967"^^xsd:string) AnnotationAssertion( "Busse-Buschke's disease"^^xsd:string) AnnotationAssertion( "European cryptococcosis"^^xsd:string) AnnotationAssertion( "Toruloses"^^xsd:string) AnnotationAssertion( "cryptococcal infection"^^xsd:string) AnnotationAssertion( "cryptococcoses"^^xsd:string) AnnotationAssertion( "torula"^^xsd:string) AnnotationAssertion( "torulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cryptococcus neoformans infection"^^xsd:string) AnnotationAssertion( "DOID:12053"^^xsd:string) AnnotationAssertion(rdfs:label "cryptococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcoid meningitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D86.81"^^xsd:string) AnnotationAssertion( "ICD9CM:321.4"^^xsd:string) AnnotationAssertion( "meningitis in sarcoidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12055"^^xsd:string) AnnotationAssertion(rdfs:label "sarcoid meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rett syndrome) AnnotationAssertion(Annotation( "http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/rett/detail_rett.htm"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/001536.htm"^^xsd:string) "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312750"^^xsd:string) AnnotationAssertion( "EFO:0001079"^^xsd:string) AnnotationAssertion( "GARD:5696"^^xsd:string) AnnotationAssertion( "ICD10CM:F84.2"^^xsd:string) AnnotationAssertion( "MESH:D015518"^^xsd:string) AnnotationAssertion( "MONDO:0010726"^^xsd:string) AnnotationAssertion( "NCI:C75488"^^xsd:string) AnnotationAssertion( "RTS"^^xsd:string) AnnotationAssertion( "RTT"^^xsd:string) AnnotationAssertion( "Rett disorder"^^xsd:string) AnnotationAssertion( "Rett's disorder"^^xsd:string) AnnotationAssertion( "Rett's syndrome"^^xsd:string) AnnotationAssertion( "Retts syndrome"^^xsd:string) AnnotationAssertion( "autism, dementia, ataxia, and loss of purposeful hand use"^^xsd:string) AnnotationAssertion( "autism, dementia, ataxia, loss of purposeful hand use syndrome"^^xsd:string) AnnotationAssertion( "cerebroatrophic hyperammonemia"^^xsd:string) AnnotationAssertion( "cerebroatrophic hyperammonemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1206"^^xsd:string) AnnotationAssertion(rdfs:label "Rett syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mediastinum neurofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6631"^^xsd:string) AnnotationAssertion( "RDO:9004344"^^xsd:string) AnnotationAssertion( "neurofibroma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12064"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum neurofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dieulafoy lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10930"^^xsd:string) AnnotationAssertion( "ICD10CM:K31.82"^^xsd:string) AnnotationAssertion( "ICD9CM:537.84"^^xsd:string) AnnotationAssertion( "Dieulafoy lesion (hemorrhagic) of intestine"^^xsd:string) AnnotationAssertion( "Dieulafoy lesion (hemorrhagic) of stomach and duodenum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12070"^^xsd:string) AnnotationAssertion(rdfs:label "Dieulafoy lesion"^^xsd:string) SubClassOf( ) # Class: (pylorospasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:537.81"^^xsd:string) AnnotationAssertion( "RDO:9003451"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12072"^^xsd:string) AnnotationAssertion(rdfs:label "pylorospasm"^^xsd:string) SubClassOf( ) # Class: (transient arthropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:716.41"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving forearm"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving hand"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving lower leg"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving multiple sites"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving pelvic region and thigh"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving shoulder region"^^xsd:string) AnnotationAssertion( "Transient arthropathy involving upper arm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12084"^^xsd:string) AnnotationAssertion(rdfs:label "transient arthropathy"^^xsd:string) SubClassOf( ) # Class: (deep corneal vascularisation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.44"^^xsd:string) AnnotationAssertion( "ICD9CM:370.63"^^xsd:string) AnnotationAssertion( "RDO:9004126"^^xsd:string) AnnotationAssertion( "deep vascularization of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12087"^^xsd:string) AnnotationAssertion(rdfs:label "deep corneal vascularisation"^^xsd:string) SubClassOf( ) # Class: (nutritional optic neuropathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25345287"^^xsd:string) "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H46.2"^^xsd:string) AnnotationAssertion( "ICD9CM:377.33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1209"^^xsd:string) AnnotationAssertion(rdfs:label "nutritional optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (sodoku disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rat_bite_fever"^^xsd:string) Annotation( "http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001144"^^xsd:string) AnnotationAssertion( "ICD10CM:A25.0"^^xsd:string) AnnotationAssertion( "ICD9CM:026.0"^^xsd:string) AnnotationAssertion( "MESH:D011906"^^xsd:string) AnnotationAssertion( "rat-bite fever"^^xsd:string) AnnotationAssertion( "rat-bite fevers"^^xsd:string) AnnotationAssertion( "ratbite fever"^^xsd:string) AnnotationAssertion( "ratbite fevers"^^xsd:string) AnnotationAssertion( "sodoku"^^xsd:string) AnnotationAssertion( "spirillary fever"^^xsd:string) AnnotationAssertion( "spirillosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12096"^^xsd:string) AnnotationAssertion(rdfs:label "sodoku disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trigeminal neuralgia) AnnotationAssertion(Annotation( "MESH:D014277"^^xsd:string) "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)"^^xsd:string) AnnotationAssertion( "MIM:190400"^^xsd:string) AnnotationAssertion( "EFO:1001219"^^xsd:string) AnnotationAssertion( "GARD:7805"^^xsd:string) AnnotationAssertion( "ICD10CM:G50.0"^^xsd:string) AnnotationAssertion( "ICD9CM:350.1"^^xsd:string) AnnotationAssertion( "MESH:D014277"^^xsd:string) AnnotationAssertion( "Fothergill disease"^^xsd:string) AnnotationAssertion( "Idiopathic Trigeminal Neuralgia"^^xsd:string) AnnotationAssertion( "Secondary Trigeminal Neuralgia"^^xsd:string) AnnotationAssertion( "Secondary Trigeminal Neuralgias"^^xsd:string) AnnotationAssertion( "Tic Douloureux"^^xsd:string) AnnotationAssertion( "epileptiform neuralgia"^^xsd:string) AnnotationAssertion( "epileptiform neuralgias"^^xsd:string) AnnotationAssertion( "idiopathic trigeminal neuralgias"^^xsd:string) AnnotationAssertion( "trifacial neuralgia"^^xsd:string) AnnotationAssertion( "trifacial neuralgias"^^xsd:string) AnnotationAssertion( "trifocal neuralgia"^^xsd:string) AnnotationAssertion( "trigeminal neuralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12098"^^xsd:string) AnnotationAssertion(rdfs:label "trigeminal neuralgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vaginal_disease"^^xsd:string) "A female reproductive system disease that is located_in the vagina. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014623"^^xsd:string) AnnotationAssertion( "NCI:C26910"^^xsd:string) AnnotationAssertion( "vaginal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:121"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal disease"^^xsd:string) SubClassOf( ) # Class: (optic neuritis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953"^^xsd:string) "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007405"^^xsd:string) AnnotationAssertion( "GARD:7320"^^xsd:string) AnnotationAssertion( "ICD10CM:H46"^^xsd:string) AnnotationAssertion( "ICD9CM:377.3"^^xsd:string) AnnotationAssertion( "MESH:D009902"^^xsd:string) AnnotationAssertion( "NCI:C84950"^^xsd:string) AnnotationAssertion( "anterior optic neuritides"^^xsd:string) AnnotationAssertion( "anterior optic neuritis"^^xsd:string) AnnotationAssertion( "neuropapillitides"^^xsd:string) AnnotationAssertion( "neuropapillitis"^^xsd:string) AnnotationAssertion( "optic neuritides"^^xsd:string) AnnotationAssertion( "posterior optic neuritides"^^xsd:string) AnnotationAssertion( "posterior optic neuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1210"^^xsd:string) AnnotationAssertion(rdfs:label "optic neuritis"^^xsd:string) SubClassOf( ) # Class: (inflammatory spondylopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:720.81"^^xsd:string) AnnotationAssertion( "inflammatory spondylopathies in disease EC"^^xsd:string) AnnotationAssertion( "inflammatory spondylopathies in disease classified elsewhere"^^xsd:string) AnnotationAssertion( "inflammatory spondylopathy in disease classified elsewhere"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12105"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory spondylopathy"^^xsd:string) SubClassOf( ) # Class: (bullous retinoschisis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:361.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12108"^^xsd:string) AnnotationAssertion(rdfs:label "bullous retinoschisis"^^xsd:string) SubClassOf( ) # Class: (pulmonary alveolar microlithiasis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27514591/"^^xsd:string) "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:265100"^^xsd:string) AnnotationAssertion( "GARD:11894"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.02"^^xsd:string) AnnotationAssertion( "ICD9CM:516.2"^^xsd:string) AnnotationAssertion( "MESH:C562405"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12117"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary alveolar microlithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary hemosiderosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brown_induration"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis"^^xsd:string) Annotation( "https://erj.ersjournals.com/content/24/1/162.full"^^xsd:string) "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. (DO)"^^xsd:string) AnnotationAssertion( "MIM:235500"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.03"^^xsd:string) AnnotationAssertion( "ICD9CM:516.1"^^xsd:string) AnnotationAssertion( "MIM:178550"^^xsd:string) AnnotationAssertion( "ORDO:99931"^^xsd:string) AnnotationAssertion( "alveolar hypoventilation syndrome"^^xsd:string) AnnotationAssertion( "brown induration"^^xsd:string) AnnotationAssertion( "brown lung"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary hemosiderosis"^^xsd:string) AnnotationAssertion( "pulmonary hemosiderosis with deficiency of gamma-a globulin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12118"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary hemosiderosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemosiderosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemosiderosis"^^xsd:string) "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6595"^^xsd:string) AnnotationAssertion( "MESH:D006486"^^xsd:string) AnnotationAssertion( "NCI:C82892"^^xsd:string) AnnotationAssertion( "haemosiderosis"^^xsd:string) AnnotationAssertion( "hemosideroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12119"^^xsd:string) AnnotationAssertion(rdfs:label "hemosiderosis"^^xsd:string) SubClassOf( ) # Class: (pulmonary alveolar proteinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis"^^xsd:string) "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.01"^^xsd:string) AnnotationAssertion( "ICD9CM:516.0"^^xsd:string) AnnotationAssertion( "MESH:D011649"^^xsd:string) AnnotationAssertion( "MIM:PS265120"^^xsd:string) AnnotationAssertion( "MONDO:0001437"^^xsd:string) AnnotationAssertion( "NCI:C85037"^^xsd:string) AnnotationAssertion( "ORDO:264675"^^xsd:string) AnnotationAssertion( "Pulmonary Alveolar Proteinoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12120"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary alveolar proteinosis"^^xsd:string) SubClassOf( ) # Class: (postinflammatory pulmonary fibrosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.10"^^xsd:string) AnnotationAssertion( "ICD9CM:515"^^xsd:string) AnnotationAssertion( "post-inflammatory pulmonary fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12123"^^xsd:string) AnnotationAssertion(rdfs:label "postinflammatory pulmonary fibrosis"^^xsd:string) SubClassOf( ) # Class: (episcleritis periodica fugax) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Episcleritis"^^xsd:string) "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.11"^^xsd:string) AnnotationAssertion( "ICD9CM:379.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12124"^^xsd:string) AnnotationAssertion(rdfs:label "episcleritis periodica fugax"^^xsd:string) SubClassOf( ) # Class: (neurotrophic keratoconjunctivitis) AnnotationAssertion( "A degenerative disease of the corneal epithelium resulting from impaired corneal innervation. "^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.23"^^xsd:string) AnnotationAssertion( "ICD9CM:370.35"^^xsd:string) AnnotationAssertion( "RDO:9003229"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12125"^^xsd:string) AnnotationAssertion(rdfs:label "neurotrophic keratoconjunctivitis"^^xsd:string) SubClassOf( ) # Class: (pica disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pica_%28disorder%29"^^xsd:string) "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:307.52"^^xsd:string) AnnotationAssertion( "MESH:D010842"^^xsd:string) AnnotationAssertion( "NCI:C92566"^^xsd:string) AnnotationAssertion( "allotriophagy"^^xsd:string) AnnotationAssertion( "geophagia"^^xsd:string) AnnotationAssertion( "pica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12128"^^xsd:string) AnnotationAssertion(rdfs:label "pica disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bulimia nervosa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bulimia_nervosa"^^xsd:string) "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607499"^^xsd:string) AnnotationAssertion( "EFO:0005204"^^xsd:string) AnnotationAssertion( "ICD10CM:F50.2"^^xsd:string) AnnotationAssertion( "MESH:D052018"^^xsd:string) AnnotationAssertion( "BN"^^xsd:string) AnnotationAssertion( "hyperorexia nervosa"^^xsd:string) AnnotationAssertion( "BULN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN"^^xsd:string) AnnotationAssertion( "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:12129"^^xsd:string) AnnotationAssertion(rdfs:label "bulimia nervosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granulomatosis with polyangiitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis"^^xsd:string) "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608710"^^xsd:string) AnnotationAssertion( "EFO:0005297"^^xsd:string) AnnotationAssertion( "GARD:7880"^^xsd:string) AnnotationAssertion( "ICD10CM:M31.3"^^xsd:string) AnnotationAssertion( "ICD9CM:446.4"^^xsd:string) AnnotationAssertion( "MESH:D014890"^^xsd:string) AnnotationAssertion( "NCI:C3444"^^xsd:string) AnnotationAssertion( "WG"^^xsd:string) AnnotationAssertion( "Wegener granulomatosis"^^xsd:string) AnnotationAssertion( "Wegener granulomatosis, formerly"^^xsd:string) AnnotationAssertion( "Wegener's granulomatosis"^^xsd:string) AnnotationAssertion( "Wegener's syndrome"^^xsd:string) AnnotationAssertion( "granulomatosis with polyangiitides"^^xsd:string) AnnotationAssertion( "necrotizing respiratory granulomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12132"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatosis with polyangiitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (factor VIII deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemophilia_A"^^xsd:string) "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)"^^xsd:string) AnnotationAssertion( "MIM:306700"^^xsd:string) AnnotationAssertion( "OMIA:000437"^^xsd:string) AnnotationAssertion( "F8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0007267"^^xsd:string) AnnotationAssertion( "GARD:6591"^^xsd:string) AnnotationAssertion( "ICD10CM:D66"^^xsd:string) AnnotationAssertion( "ICD9CM:286.0"^^xsd:string) AnnotationAssertion( "MESH:D006467"^^xsd:string) AnnotationAssertion( "MONDO:0010602"^^xsd:string) AnnotationAssertion( "NCI:C27146"^^xsd:string) AnnotationAssertion( "NCI:C3093"^^xsd:string) AnnotationAssertion( "ORDO:98878"^^xsd:string) AnnotationAssertion( "Congenital Hemophilia A"^^xsd:string) AnnotationAssertion( "HEMA"^^xsd:string) AnnotationAssertion( "classic hemophilia"^^xsd:string) AnnotationAssertion( "classic hemophilia A"^^xsd:string) AnnotationAssertion( "classic hemophilias"^^xsd:string) AnnotationAssertion( "congenital factor 8 deficiency"^^xsd:string) AnnotationAssertion( "congenital factor VIII deficiency"^^xsd:string) AnnotationAssertion( "congenital factor VIII disorder"^^xsd:string) AnnotationAssertion( "haemophilia"^^xsd:string) AnnotationAssertion( "haemophilia A"^^xsd:string) AnnotationAssertion( "hemophilia"^^xsd:string) AnnotationAssertion( "hemophilia A"^^xsd:string) AnnotationAssertion( "hemophilia A, FVIII deficiency"^^xsd:string) AnnotationAssertion( "subhemophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "factor VIII (Okayama)"^^xsd:string) AnnotationAssertion( "DOID:12134"^^xsd:string) AnnotationAssertion(rdfs:label "factor VIII deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dysthymic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008623"^^xsd:string) AnnotationAssertion( "ICD9CM:300.4"^^xsd:string) AnnotationAssertion( "MESH:D019263"^^xsd:string) AnnotationAssertion( "MONDO:0001442"^^xsd:string) AnnotationAssertion( "NCI:C34562"^^xsd:string) AnnotationAssertion( "dysthymia"^^xsd:string) AnnotationAssertion( "dysthymic disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12139"^^xsd:string) AnnotationAssertion(rdfs:label "dysthymic disorder"^^xsd:string) SubClassOf( ) # Class: (tympanosclerosis) AnnotationAssertion(Annotation( "MESH:D063371"^^xsd:string) "The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing."^^xsd:string) AnnotationAssertion( "MESH:D063371"^^xsd:string) AnnotationAssertion( "EFO:1001812"^^xsd:string) AnnotationAssertion( "ICD9CM:385.09"^^xsd:string) AnnotationAssertion( "MESH:D000092163"^^xsd:string) AnnotationAssertion( "intratympanic tympanosclerosis"^^xsd:string) AnnotationAssertion( "myringoscleroses"^^xsd:string) AnnotationAssertion( "myringosclerosis"^^xsd:string) AnnotationAssertion( "tympanic calcification"^^xsd:string) AnnotationAssertion( "tympanoscleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1214"^^xsd:string) AnnotationAssertion(rdfs:label "tympanosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chagas disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chagas_disease"^^xsd:string) "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008559"^^xsd:string) AnnotationAssertion( "GARD:6030"^^xsd:string) AnnotationAssertion( "ICD9CM:086.2"^^xsd:string) AnnotationAssertion( "MESH:D014355"^^xsd:string) AnnotationAssertion( "ORDO:3386"^^xsd:string) AnnotationAssertion( "American trypanosomiasis"^^xsd:string) AnnotationAssertion( "Chagas' disease with digestive system involvement"^^xsd:string) AnnotationAssertion( "Chagas' disease with nervous system involvement"^^xsd:string) AnnotationAssertion( "Chagas' disease with other organ involvement"^^xsd:string) AnnotationAssertion( "South American trypanosomiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12140"^^xsd:string) AnnotationAssertion(rdfs:label "Chagas disease"^^xsd:string) SubClassOf( ) # Class: (neurogenic bladder) AnnotationAssertion(Annotation( "MESH:D001750"^^xsd:string) "Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES."^^xsd:string) AnnotationAssertion( "ICD9CM:596.54"^^xsd:string) AnnotationAssertion( "MESH:D001750"^^xsd:string) AnnotationAssertion( "NCI:C79696"^^xsd:string) AnnotationAssertion( "Atonic Neurogenic Bladder"^^xsd:string) AnnotationAssertion( "Bladder Neurogenesis"^^xsd:string) AnnotationAssertion( "Neurogenic Bladder Disorder"^^xsd:string) AnnotationAssertion( "Neurogenic Dysfunction of the Urinary Bladder"^^xsd:string) AnnotationAssertion( "Neurogenic Urinary Bladder Disorder"^^xsd:string) AnnotationAssertion( "Neurogenic Urinary Bladder, Atonic"^^xsd:string) AnnotationAssertion( "Neurogenic Urinary Bladder, Spastic"^^xsd:string) AnnotationAssertion( "Neurogenic Urinary Bladder, Uninhibited"^^xsd:string) AnnotationAssertion( "Neuropathic Bladder"^^xsd:string) AnnotationAssertion( "Spastic Neurogenic Bladder"^^xsd:string) AnnotationAssertion( "Uninhibited Neurogenic Bladder"^^xsd:string) AnnotationAssertion( "Urinary Bladder Neurogenesis"^^xsd:string) AnnotationAssertion( "neurogenic bladder disorders"^^xsd:string) AnnotationAssertion( "neurogenic urinary bladder"^^xsd:string) AnnotationAssertion( "urinary bladder neurogenic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12143"^^xsd:string) AnnotationAssertion(rdfs:label "neurogenic bladder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (low compliance bladder) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:596.52"^^xsd:string) AnnotationAssertion( "RDO:9003064"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:596.51"^^xsd:string) "hyperactivity of bladder"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:314717001"^^xsd:string) "hypertonic bladder"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:596.51"^^xsd:string) "hypertonicity of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12144"^^xsd:string) AnnotationAssertion(rdfs:label "low compliance bladder"^^xsd:string) SubClassOf( ) # Class: (detrusor sphincter dyssynergia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:596.55"^^xsd:string) AnnotationAssertion( "RDO:9003072"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12145"^^xsd:string) AnnotationAssertion(rdfs:label "detrusor sphincter dyssynergia"^^xsd:string) SubClassOf( ) # Class: (alveolar echinococcosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string) "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. (DO)"^^xsd:string) AnnotationAssertion( "GARD:207"^^xsd:string) AnnotationAssertion( "ICD10CM:B67.7"^^xsd:string) AnnotationAssertion( "ICD9CM:122.7"^^xsd:string) AnnotationAssertion( "MESH:C536591"^^xsd:string) AnnotationAssertion( "alveolococcosis"^^xsd:string) AnnotationAssertion( "multilocular hydatid"^^xsd:string) AnnotationAssertion( "small fox tapeworm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "echinococcus multilocularis infection"^^xsd:string) AnnotationAssertion( "DOID:12148"^^xsd:string) AnnotationAssertion(rdfs:label "alveolar echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lymphocytic choriomeningitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis"^^xsd:string) "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A87.2"^^xsd:string) AnnotationAssertion( "MESH:D008216"^^xsd:string) AnnotationAssertion( "NCI:C174114"^^xsd:string) AnnotationAssertion( "Armstrong Syndrome"^^xsd:string) AnnotationAssertion( "Armstrong's Syndrome"^^xsd:string) AnnotationAssertion( "LCM"^^xsd:string) AnnotationAssertion( "Lymphocytic Choriomeningitis Virus Encephalomyelitis"^^xsd:string) AnnotationAssertion( "lymphocytic meningitis"^^xsd:string) AnnotationAssertion( "lymphocytic meningoencephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12155"^^xsd:string) AnnotationAssertion(rdfs:label "lymphocytic choriomeningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (arachnoiditis) AnnotationAssertion(Annotation( "MESH:D001100"^^xsd:string) "Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)"^^xsd:string) AnnotationAssertion( "GARD:5839"^^xsd:string) AnnotationAssertion( "ICD10CM:G03"^^xsd:string) AnnotationAssertion( "MESH:D001100"^^xsd:string) AnnotationAssertion( "NCI:C37913"^^xsd:string) AnnotationAssertion( "arachnoid membrane inflammation"^^xsd:string) AnnotationAssertion( "arachnoid membrane inflammations"^^xsd:string) AnnotationAssertion( "arachnoiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12156"^^xsd:string) AnnotationAssertion(rdfs:label "arachnoiditis"^^xsd:string) SubClassOf( ) # Class: (aseptic meningitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23622323"^^xsd:string) "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000823"^^xsd:string) AnnotationAssertion( "ICD10CM:G03.0"^^xsd:string) AnnotationAssertion( "MESH:D008582"^^xsd:string) AnnotationAssertion( "NCI:C118299"^^xsd:string) AnnotationAssertion( "acute aseptic meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12157"^^xsd:string) AnnotationAssertion(rdfs:label "aseptic meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peripheral retinal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.4"^^xsd:string) AnnotationAssertion( "ICD9CM:362.6"^^xsd:string) AnnotationAssertion( "NCI:C34919"^^xsd:string) AnnotationAssertion( "peripheral degeneration of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12161"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral retinal degeneration"^^xsd:string) SubClassOf( ) # Class: (pseudoretinitis pigmentosa) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.45"^^xsd:string) AnnotationAssertion( "ICD9CM:362.65"^^xsd:string) AnnotationAssertion( "secondary pigmentary degeneration of retina"^^xsd:string) AnnotationAssertion( "secondary pigmentary retinal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12162"^^xsd:string) AnnotationAssertion(rdfs:label "pseudoretinitis pigmentosa"^^xsd:string) SubClassOf( ) # Class: (senile reticular retinal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.64"^^xsd:string) AnnotationAssertion( "senile reticular degeneration of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12163"^^xsd:string) AnnotationAssertion(rdfs:label "senile reticular retinal degeneration"^^xsd:string) SubClassOf( ) # Class: (Blessig's cysts) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.42"^^xsd:string) AnnotationAssertion( "ICD9CM:362.62"^^xsd:string) AnnotationAssertion( "Blessig cysts"^^xsd:string) AnnotationAssertion( "Iwanoff's cysts"^^xsd:string) AnnotationAssertion( "Microcystoid degeneration of retina"^^xsd:string) AnnotationAssertion( "Microcystoid retinal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12164"^^xsd:string) AnnotationAssertion(rdfs:label "Blessig's cysts"^^xsd:string) SubClassOf( ) # Class: (retinal lattice degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.41"^^xsd:string) AnnotationAssertion( "ICD9CM:362.63"^^xsd:string) AnnotationAssertion( "palisade degeneration of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12165"^^xsd:string) AnnotationAssertion(rdfs:label "retinal lattice degeneration"^^xsd:string) SubClassOf( ) # Class: (cobblestone retinal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.43"^^xsd:string) AnnotationAssertion( "ICD9CM:362.61"^^xsd:string) AnnotationAssertion( "Paving stone degeneration of retina"^^xsd:string) AnnotationAssertion( "Paving stone retinal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12166"^^xsd:string) AnnotationAssertion(rdfs:label "cobblestone retinal degeneration"^^xsd:string) SubClassOf( ) # Class: (secondary vitreoretinal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.46"^^xsd:string) AnnotationAssertion( "ICD9CM:362.66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12167"^^xsd:string) AnnotationAssertion(rdfs:label "secondary vitreoretinal degeneration"^^xsd:string) SubClassOf( ) # Class: (ulnar nerve lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G56.2"^^xsd:string) AnnotationAssertion( "ICD9CM:354.2"^^xsd:string) AnnotationAssertion( "lesion of ulnar nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12168"^^xsd:string) AnnotationAssertion(rdfs:label "ulnar nerve lesion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carpal tunnel syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000433.htm"^^xsd:string) Annotation( "https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/"^^xsd:string) "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004143"^^xsd:string) AnnotationAssertion( "ICD10CM:G56.0"^^xsd:string) AnnotationAssertion( "ICD9CM:354.0"^^xsd:string) AnnotationAssertion( "MESH:D002349"^^xsd:string) AnnotationAssertion( "MIM:PS115430"^^xsd:string) AnnotationAssertion( "NCI:C34450"^^xsd:string) AnnotationAssertion( "CARPAL TUNNEL SYNDROME, FAMILIAL"^^xsd:string) AnnotationAssertion( "CTS"^^xsd:string) AnnotationAssertion( "CTS - carpal tunnel syndrome"^^xsd:string) AnnotationAssertion( "Carpal Tunnel Syndromes"^^xsd:string) AnnotationAssertion( "Compression Neuropathy, Carpal Tunnel"^^xsd:string) AnnotationAssertion( "Entrapment Neuropathy, Carpal Tunnel"^^xsd:string) AnnotationAssertion( "carpal tunnel median neuropathy"^^xsd:string) AnnotationAssertion( "median nerve entrapment"^^xsd:string) AnnotationAssertion( "thenar amyotrophy of carpal origin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12169"^^xsd:string) AnnotationAssertion(rdfs:label "carpal tunnel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fascioloidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fascioloides_magna"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007268"^^xsd:string) AnnotationAssertion( "MESH:D005213"^^xsd:string) AnnotationAssertion( "Fascioloidiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1217"^^xsd:string) AnnotationAssertion(rdfs:label "fascioloidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (radial nerve lesion) AnnotationAssertion( "EFO:1001143"^^xsd:string) AnnotationAssertion( "ICD10CM:G56.3"^^xsd:string) AnnotationAssertion( "ICD9CM:354.3"^^xsd:string) AnnotationAssertion( "lesion of radial nerve"^^xsd:string) AnnotationAssertion( "radial nerve lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12170"^^xsd:string) AnnotationAssertion(rdfs:label "radial nerve lesion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (radial neuropathy) AnnotationAssertion(Annotation( "MESH:D020425"^^xsd:string) "Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."^^xsd:string) AnnotationAssertion( "MESH:D020425"^^xsd:string) AnnotationAssertion( "Crutch Palsy"^^xsd:string) AnnotationAssertion( "Radial Nerve Disease"^^xsd:string) AnnotationAssertion( "Radial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Radial Neuropathies"^^xsd:string) AnnotationAssertion( "Saturday Night Palsies"^^xsd:string) AnnotationAssertion( "Saturday Night Palsy"^^xsd:string) AnnotationAssertion( "crutch palsies"^^xsd:string) AnnotationAssertion( "superficial radial nerve lesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12171"^^xsd:string) AnnotationAssertion(rdfs:label "radial neuropathy"^^xsd:string) SubClassOf( ) # Class: (dyshormonogenic goiter) AnnotationAssertion( "ICD9CM:246.1"^^xsd:string) AnnotationAssertion( "dyshormonogenic goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12175"^^xsd:string) AnnotationAssertion(rdfs:label "dyshormonogenic goiter"^^xsd:string) SubClassOf( ) # Class: (goiter) AnnotationAssertion(Annotation( "http://www.thyroid.org/patients/patient_brochures/goiter.html"^^xsd:string) "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004283"^^xsd:string) AnnotationAssertion( "ICD9CM:240.9"^^xsd:string) AnnotationAssertion( "MESH:D006042"^^xsd:string) AnnotationAssertion( "NCI:C26785"^^xsd:string) AnnotationAssertion( "goiters"^^xsd:string) AnnotationAssertion( "goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12176"^^xsd:string) AnnotationAssertion(rdfs:label "goiter"^^xsd:string) SubClassOf( ) # Class: (common variable immunodeficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Common_variable_immunodeficiency"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec13/ch164/ch164g.html"^^xsd:string) "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000367"^^xsd:string) AnnotationAssertion( "EFO:0020035"^^xsd:string) AnnotationAssertion( "GARD:6140"^^xsd:string) AnnotationAssertion( "ICD10CM:D83"^^xsd:string) AnnotationAssertion( "ICD9CM:279.06"^^xsd:string) AnnotationAssertion( "MESH:D017074"^^xsd:string) AnnotationAssertion( "MIM:PS607594"^^xsd:string) AnnotationAssertion( "MONDO:0015517"^^xsd:string) AnnotationAssertion( "NCI:C26725"^^xsd:string) AnnotationAssertion( "ORDO:1572"^^xsd:string) AnnotationAssertion( "Acquired Hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "Common Variable Hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "Common Variable Immune Deficiency"^^xsd:string) AnnotationAssertion( "Common Variable Immunodeficiencies"^^xsd:string) AnnotationAssertion( "IL21 DEFICIENCY"^^xsd:string) AnnotationAssertion( "acquired agammaglobulinemia"^^xsd:string) AnnotationAssertion( "acquired hypogammaglobulinemias"^^xsd:string) AnnotationAssertion( "common variable agammaglobulinemia"^^xsd:string) AnnotationAssertion( "common variable hypogammaglobulinemias"^^xsd:string) AnnotationAssertion( "late-onset immunoglobulin deficiencies"^^xsd:string) AnnotationAssertion( "late-onset immunoglobulin deficiency"^^xsd:string) AnnotationAssertion( "sporadic hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "COMMON VARIABLE IMMUNE DEFICIENCY, DOMINANT"^^xsd:string) AnnotationAssertion( "COMMON VARIABLE IMMUNE DEFICIENCY, RECESSIVE"^^xsd:string) AnnotationAssertion( "CVID"^^xsd:string) AnnotationAssertion( "autosomal dominant common variable immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12177"^^xsd:string) AnnotationAssertion(rdfs:label "common variable immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tinea corporis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm"^^xsd:string) "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:110.5"^^xsd:string) AnnotationAssertion( "dermatophytosis of the body"^^xsd:string) AnnotationAssertion( "dermatophytosis of the trunk"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12179"^^xsd:string) AnnotationAssertion(rdfs:label "tinea corporis"^^xsd:string) SubClassOf( ) # Class: (echinostomiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007246"^^xsd:string) AnnotationAssertion( "MESH:D004451"^^xsd:string) AnnotationAssertion( "Echinostomiases"^^xsd:string) AnnotationAssertion( "infection by Echinochasmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1218"^^xsd:string) AnnotationAssertion(rdfs:label "echinostomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otosclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otosclerosis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh"^^xsd:string) "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H80.80"^^xsd:string) AnnotationAssertion( "ICD9CM:387.8"^^xsd:string) AnnotationAssertion( "MESH:D010040"^^xsd:string) AnnotationAssertion( "MIM:PS166800"^^xsd:string) AnnotationAssertion( "NCI:C185242"^^xsd:string) AnnotationAssertion( "ORDO:2794"^^xsd:string) AnnotationAssertion( "OTS"^^xsd:string) AnnotationAssertion( "otoscleroses"^^xsd:string) AnnotationAssertion( "otospongioses"^^xsd:string) AnnotationAssertion( "otospongiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12185"^^xsd:string) AnnotationAssertion(rdfs:label "otosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dicrocoeliasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007234"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.2"^^xsd:string) AnnotationAssertion( "MESH:D004011"^^xsd:string) AnnotationAssertion( "dicrocoeliases"^^xsd:string) AnnotationAssertion( "disease due to dicrocoeliidae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1219"^^xsd:string) AnnotationAssertion(rdfs:label "dicrocoeliasis"^^xsd:string) SubClassOf( ) # Class: (descending colon cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.6"^^xsd:string) AnnotationAssertion( "ICD9CM:153.2"^^xsd:string) AnnotationAssertion( "Ca descending colon"^^xsd:string) AnnotationAssertion( "malignant neoplasm of left colon"^^xsd:string) AnnotationAssertion( "malignant tumor of descending colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12190"^^xsd:string) AnnotationAssertion(rdfs:label "descending colon cancer"^^xsd:string) SubClassOf( ) # Class: (splenic flexure cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.5"^^xsd:string) AnnotationAssertion( "ICD9CM:153.7"^^xsd:string) AnnotationAssertion( "Ca splenic flexure - colon"^^xsd:string) AnnotationAssertion( "malignant neoplasm of splenic flexure"^^xsd:string) AnnotationAssertion( "malignant tumor of splenic flexure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12191"^^xsd:string) AnnotationAssertion(rdfs:label "splenic flexure cancer"^^xsd:string) SubClassOf( ) # Class: (sigmoid colon cancer) AnnotationAssertion( "ICD10CM:C18.7"^^xsd:string) AnnotationAssertion( "ICD9CM:153.3"^^xsd:string) AnnotationAssertion( "Ca sigmoid colon"^^xsd:string) AnnotationAssertion( "malignant tumor of sigmoid colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12192"^^xsd:string) AnnotationAssertion(rdfs:label "sigmoid colon cancer"^^xsd:string) SubClassOf( ) # Class: (superficial keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.10"^^xsd:string) AnnotationAssertion( "ICD9CM:370.20"^^xsd:string) AnnotationAssertion( "RDO:9002831"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12196"^^xsd:string) AnnotationAssertion(rdfs:label "superficial keratitis"^^xsd:string) SubClassOf( ) # Class: (punctate epithelial keratoconjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.14"^^xsd:string) AnnotationAssertion( "ICD9CM:370.21"^^xsd:string) AnnotationAssertion( "Thygeson superficial punctate keratitis"^^xsd:string) AnnotationAssertion( "Thygeson's superficial punctate keratitis"^^xsd:string) AnnotationAssertion( "punctate keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12197"^^xsd:string) AnnotationAssertion(rdfs:label "punctate epithelial keratoconjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dengue disease) AnnotationAssertion(Annotation( "http://www.cdc.gov/dengue/fAQFacts/index.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue"^^xsd:string) "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614371"^^xsd:string) AnnotationAssertion( "EFO:0005547"^^xsd:string) AnnotationAssertion( "GARD:6254"^^xsd:string) AnnotationAssertion( "ICD10CM:A90"^^xsd:string) AnnotationAssertion( "ICD9CM:061"^^xsd:string) AnnotationAssertion( "MESH:D003715"^^xsd:string) AnnotationAssertion( "NCI:C34528"^^xsd:string) AnnotationAssertion( "Break Bone Fever"^^xsd:string) AnnotationAssertion( "Breakbone Fever"^^xsd:string) AnnotationAssertion( "Classical Dengue"^^xsd:string) AnnotationAssertion( "Classical Dengue Fever"^^xsd:string) AnnotationAssertion( "Classical Dengue Fevers"^^xsd:string) AnnotationAssertion( "Classical Dengues"^^xsd:string) AnnotationAssertion( "Dengue Fever"^^xsd:string) AnnotationAssertion( "classic dengue"^^xsd:string) AnnotationAssertion( "dengue"^^xsd:string) AnnotationAssertion( "DENGUE FEVER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dengue fever, protection against"^^xsd:string) AnnotationAssertion( "dengue virus, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:12205"^^xsd:string) AnnotationAssertion(rdfs:label "dengue disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dengue hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf"^^xsd:string) Annotation( "http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs117/en/"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever"^^xsd:string) "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004227"^^xsd:string) AnnotationAssertion( "ICD10CM:A91"^^xsd:string) AnnotationAssertion( "MESH:D019595"^^xsd:string) AnnotationAssertion( "NCI:C34683"^^xsd:string) AnnotationAssertion( "DHF"^^xsd:string) AnnotationAssertion( "Hemorrhagic Dengues"^^xsd:string) AnnotationAssertion( "Philippine Hemorrhagic Fever"^^xsd:string) AnnotationAssertion( "Severe Dengue"^^xsd:string) AnnotationAssertion( "Severe Dengues"^^xsd:string) AnnotationAssertion( "Singapore hemorrhagic fever"^^xsd:string) AnnotationAssertion( "Thai hemorrhagic fever"^^xsd:string) AnnotationAssertion( "dengue haemorrhagic fever"^^xsd:string) AnnotationAssertion( "hemorrhagic dengue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12206"^^xsd:string) AnnotationAssertion(rdfs:label "dengue hemorrhagic fever"^^xsd:string) SubClassOf( ) # Class: (filarial elephantiasis) AnnotationAssertion(Annotation( "https://www.cdc.gov/parasites/lymphaticfilariasis/index.html"^^xsd:string) Annotation( "https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis"^^xsd:string) "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007272"^^xsd:string) AnnotationAssertion( "MESH:D004605"^^xsd:string) AnnotationAssertion( "NCI:C128360"^^xsd:string) AnnotationAssertion( "Bancroftian Elephantiasis"^^xsd:string) AnnotationAssertion( "Bancroftian filarial chyluria"^^xsd:string) AnnotationAssertion( "Filarial Elephantiases"^^xsd:string) AnnotationAssertion( "Lymphatic Filariases"^^xsd:string) AnnotationAssertion( "bancroftian elephantiases"^^xsd:string) AnnotationAssertion( "elephantiasis of eyelid"^^xsd:string) AnnotationAssertion( "lymphatic filariasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12211"^^xsd:string) AnnotationAssertion(rdfs:label "filarial elephantiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oligohydramnios) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medlineplus/oligohydramnios"^^xsd:string) "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007401"^^xsd:string) AnnotationAssertion( "ICD10CM:O41.0"^^xsd:string) AnnotationAssertion( "ICD10CM:O41.00"^^xsd:string) AnnotationAssertion( "ICD9CM:658.0"^^xsd:string) AnnotationAssertion( "MESH:D016104"^^xsd:string) AnnotationAssertion( "NCI:C92839"^^xsd:string) AnnotationAssertion( "antepartum oligohydramnios"^^xsd:string) AnnotationAssertion( "oligohydramnios - delivered"^^xsd:string) AnnotationAssertion( "ANHYDRAMNIOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12215"^^xsd:string) AnnotationAssertion(rdfs:label "oligohydramnios"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lewy body dementia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038"^^xsd:string) "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:127750"^^xsd:string) AnnotationAssertion( "EFO:0006792"^^xsd:string) AnnotationAssertion( "GARD:3243"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.83"^^xsd:string) AnnotationAssertion( "ICD9CM:331.82"^^xsd:string) AnnotationAssertion( "MESH:D020961"^^xsd:string) AnnotationAssertion( "NCI:C84826"^^xsd:string) AnnotationAssertion( "DLB"^^xsd:string) AnnotationAssertion( "Diffuse Lewy Body Disease"^^xsd:string) AnnotationAssertion( "Lewy Body Type Senile Dementia"^^xsd:string) AnnotationAssertion( "Lewy body disease"^^xsd:string) AnnotationAssertion( "cortical Lewy body disease"^^xsd:string) AnnotationAssertion( "dementia with Lewy bodies"^^xsd:string) AnnotationAssertion( "senile dementia of the Lewy body type"^^xsd:string) AnnotationAssertion( "DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY"^^xsd:string) AnnotationAssertion( "LEWY BODY VARIANT OF ALZHEIMER DISEASE"^^xsd:string) AnnotationAssertion( "LEWY BODY VARIANT OF ALZHEIMER'S DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12217"^^xsd:string) AnnotationAssertion(rdfs:label "Lewy body dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cartilage disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/"^^xsd:string) "A connective tissue disease that is located_in cartilage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005802"^^xsd:string) AnnotationAssertion( "ICD10CM:M94.9"^^xsd:string) AnnotationAssertion( "MESH:D002357"^^xsd:string) AnnotationAssertion( "cartilage diseases"^^xsd:string) AnnotationAssertion( "cartilage disorder"^^xsd:string) AnnotationAssertion( "chondropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1222"^^xsd:string) AnnotationAssertion(rdfs:label "cartilage disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (specific bursitis often of occupational origin) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:727.2"^^xsd:string) AnnotationAssertion( "specific bursitides often of occupational origin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12223"^^xsd:string) AnnotationAssertion(rdfs:label "specific bursitis often of occupational origin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Plica syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M67.5"^^xsd:string) AnnotationAssertion( "ICD9CM:727.83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12225"^^xsd:string) AnnotationAssertion(rdfs:label "Plica syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cascade stomach) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K31.2"^^xsd:string) AnnotationAssertion( "ICD9CM:537.6"^^xsd:string) AnnotationAssertion( "RDO:9003454"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:537.6"^^xsd:string) "Hourglass stricture or stenosis of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12234"^^xsd:string) AnnotationAssertion(rdfs:label "cascade stomach"^^xsd:string) SubClassOf( ) # Class: (primary biliary cholangitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874"^^xsd:string) "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004267"^^xsd:string) AnnotationAssertion( "EFO:1001486"^^xsd:string) AnnotationAssertion( "EFO:1001487"^^xsd:string) AnnotationAssertion( "GARD:7459"^^xsd:string) AnnotationAssertion( "ICD10CM:K74.3"^^xsd:string) AnnotationAssertion( "ICD10CM:K74.5"^^xsd:string) AnnotationAssertion( "ICD9CM:571.6"^^xsd:string) AnnotationAssertion( "MESH:D008105"^^xsd:string) AnnotationAssertion( "MIM:PS109720"^^xsd:string) AnnotationAssertion( "NCI:C27167"^^xsd:string) AnnotationAssertion( "NCI:C51225"^^xsd:string) AnnotationAssertion( "ORDO:186"^^xsd:string) AnnotationAssertion( "PBC"^^xsd:string) AnnotationAssertion( "biliary cirrhosis"^^xsd:string) AnnotationAssertion( "biliary liver cirrhoses"^^xsd:string) AnnotationAssertion( "biliary liver cirrhosis"^^xsd:string) AnnotationAssertion( "cholestatic cirrhosis"^^xsd:string) AnnotationAssertion( "chronic nonsuppurative destructive cholangitis"^^xsd:string) AnnotationAssertion( "obstructive liver cirrhosis"^^xsd:string) AnnotationAssertion( "primary biliary cirrhosis"^^xsd:string) AnnotationAssertion( "secondary biliary cirrhosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12236"^^xsd:string) AnnotationAssertion(rdfs:label "primary biliary cholangitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bile reflux) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Biliary_reflux"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115"^^xsd:string) "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000838"^^xsd:string) AnnotationAssertion( "MESH:D001655"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12237"^^xsd:string) AnnotationAssertion(rdfs:label "bile reflux"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal margin squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C44.520"^^xsd:string) AnnotationAssertion( "NCI:C6925"^^xsd:string) AnnotationAssertion( "perianal skin squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of anal margin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12239"^^xsd:string) AnnotationAssertion(rdfs:label "anal margin squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beta thalassemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Beta_thalassemia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/beta-thalassemia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31030806/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1426/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10395635"^^xsd:string) "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613985"^^xsd:string) AnnotationAssertion( "GARD:871"^^xsd:string) AnnotationAssertion( "ICD10CM:D56.1"^^xsd:string) AnnotationAssertion( "ICD9CM:282.44"^^xsd:string) AnnotationAssertion( "MESH:D017086"^^xsd:string) AnnotationAssertion( "NCI:C34375"^^xsd:string) AnnotationAssertion( "ORDO:848"^^xsd:string) AnnotationAssertion( "Beta-thalassemia, lermontov type"^^xsd:string) AnnotationAssertion( "Erythroblastic Anemia"^^xsd:string) AnnotationAssertion( "Hemoglobin F Disease"^^xsd:string) AnnotationAssertion( "Mediterranean anemia"^^xsd:string) AnnotationAssertion( "Mediterranean anemias"^^xsd:string) AnnotationAssertion( "beta Type Microcytemia"^^xsd:string) AnnotationAssertion( "beta Type Microcytemias"^^xsd:string) AnnotationAssertion( "beta Type Thalassemia"^^xsd:string) AnnotationAssertion( "beta Type Thalassemias"^^xsd:string) AnnotationAssertion( "beta thalassemias"^^xsd:string) AnnotationAssertion( "erythroblastic anemias"^^xsd:string) AnnotationAssertion( "BETA ZERO THALASSEMIA"^^xsd:string) AnnotationAssertion( "BETA-MALAY-THALASSEMIA"^^xsd:string) AnnotationAssertion( "BETA-THALASSEMIA DOMINANT"^^xsd:string) AnnotationAssertion( "BETA-THALASSEMIA HBB/LCRB"^^xsd:string) AnnotationAssertion( "Beta-Houston-thalassemia"^^xsd:string) AnnotationAssertion( "Beta-e-thalassemia"^^xsd:string) AnnotationAssertion( "beta0^ Thalassemia"^^xsd:string) AnnotationAssertion( "beta^0^ Thalassemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN AGENOGI"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN AUBAGNE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN CARIBBEAN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DEER LODGE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN E (SASKATOON)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HK"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HOFU"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HRADEC KRALOVE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN J (RAMBAM)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN Q (INDIA)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SAKI"^^xsd:string) AnnotationAssertion( "Hemoglobin Brescia"^^xsd:string) AnnotationAssertion( "Hemoglobin Durham-N.C."^^xsd:string) AnnotationAssertion( "Hemoglobin J (Cambridge)"^^xsd:string) AnnotationAssertion( "Hemoglobin MS"^^xsd:string) AnnotationAssertion( "Hemoglobin Mississippi"^^xsd:string) AnnotationAssertion( "hemoglobin City of Hope"^^xsd:string) AnnotationAssertion( "hemoglobin Siriraj"^^xsd:string) AnnotationAssertion( "DOID:12241"^^xsd:string) AnnotationAssertion(rdfs:label "beta thalassemia"^^xsd:string) SubClassOf( ) # Class: (histoplasmosis meningitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:115.91"^^xsd:string) AnnotationAssertion( "histoplasmosis with meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12246"^^xsd:string) AnnotationAssertion(rdfs:label "histoplasmosis meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (testicular lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6810"^^xsd:string) AnnotationAssertion( "lymphoma of the testis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:277664004"^^xsd:string) "malignant lymphoma of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12253"^^xsd:string) AnnotationAssertion(rdfs:label "testicular lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (medulloadrenal hyperfunction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E27.5"^^xsd:string) AnnotationAssertion( "ICD9CM:255.6"^^xsd:string) AnnotationAssertion( "RDO:9004082"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12257"^^xsd:string) AnnotationAssertion(rdfs:label "medulloadrenal hyperfunction"^^xsd:string) SubClassOf( ) # Class: (hemophilia B) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm"^^xsd:string) "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)"^^xsd:string) AnnotationAssertion( "MIM:306900"^^xsd:string) AnnotationAssertion( "OMIA:000438"^^xsd:string) AnnotationAssertion( "EFO:0009154"^^xsd:string) AnnotationAssertion( "GARD:8732"^^xsd:string) AnnotationAssertion( "ICD10CM:D67"^^xsd:string) AnnotationAssertion( "ICD9CM:286.1"^^xsd:string) AnnotationAssertion( "MESH:D002836"^^xsd:string) AnnotationAssertion( "NCI:C26721"^^xsd:string) AnnotationAssertion( "ORDO:98879"^^xsd:string) AnnotationAssertion( "Christmas disease"^^xsd:string) AnnotationAssertion( "F9 Deficiency"^^xsd:string) AnnotationAssertion( "F9 deficiencies"^^xsd:string) AnnotationAssertion( "HEMB"^^xsd:string) AnnotationAssertion( "HEMOPHILIA B, FACTOR IX DEFICIENCY"^^xsd:string) AnnotationAssertion( "Haemophilia B"^^xsd:string) AnnotationAssertion( "Hemophilia B Brandenburg"^^xsd:string) AnnotationAssertion( "congenital factor IX deficiency"^^xsd:string) AnnotationAssertion( "congenital factor IX disorder"^^xsd:string) AnnotationAssertion( "factor IX deficiencies"^^xsd:string) AnnotationAssertion( "factor IX deficiency"^^xsd:string) AnnotationAssertion( "functional factor IX deficiency,"^^xsd:string) AnnotationAssertion( "hemophilia B(M)"^^xsd:string) AnnotationAssertion( "hereditary factor IX deficiency disease"^^xsd:string) AnnotationAssertion( "plasma thromboplastin component deficiency"^^xsd:string) AnnotationAssertion( "HEMOPHILIA B LEYDEN"^^xsd:string) AnnotationAssertion( "plasma thromboplastin component deficiency hemophilia B(M)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12259"^^xsd:string) AnnotationAssertion(rdfs:label "hemophilia B"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic salpingo-oophoritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.1"^^xsd:string) AnnotationAssertion( "ICD9CM:614.1"^^xsd:string) AnnotationAssertion( "chronic salpingitis and oophoritis"^^xsd:string) AnnotationAssertion( "chronic salpingitis/oophoritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12265"^^xsd:string) AnnotationAssertion(rdfs:label "chronic salpingo-oophoritis"^^xsd:string) SubClassOf( ) # Class: (neutropenia) AnnotationAssertion(Annotation( "MESH:D009503"^^xsd:string) "A decrease in the number of NEUTROPHILS found in the blood."^^xsd:string) AnnotationAssertion( "ICD10CM:D70"^^xsd:string) AnnotationAssertion( "ICD9CM:288.0"^^xsd:string) AnnotationAssertion( "MESH:D009503"^^xsd:string) AnnotationAssertion( "MONDO:0001475"^^xsd:string) AnnotationAssertion( "NCI:C80520"^^xsd:string) AnnotationAssertion( "neutropenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1227"^^xsd:string) AnnotationAssertion(rdfs:label "neutropenia"^^xsd:string) SubClassOf( ) # Class: (coloboma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coloboma"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/coloboma"^^xsd:string) "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)"^^xsd:string) AnnotationAssertion( "MIM:120300"^^xsd:string) AnnotationAssertion( "MIM:216820"^^xsd:string) AnnotationAssertion( "GARD:1433"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.0"^^xsd:string) AnnotationAssertion( "MESH:D003103"^^xsd:string) AnnotationAssertion( "NCI:C98877"^^xsd:string) AnnotationAssertion( "ORDO:194"^^xsd:string) AnnotationAssertion( "ORDO:98945"^^xsd:string) AnnotationAssertion( "COI"^^xsd:string) AnnotationAssertion( "agenesis of macula"^^xsd:string) AnnotationAssertion( "coloboma of eye"^^xsd:string) AnnotationAssertion( "coloboma of iris, choroid, and retina"^^xsd:string) AnnotationAssertion( "colobomas"^^xsd:string) AnnotationAssertion( "congenital ocular coloboma"^^xsd:string) AnnotationAssertion( "ocular coloboma"^^xsd:string) AnnotationAssertion( "uveoretinal coloboma"^^xsd:string) AnnotationAssertion( "CHORIORETINAL COLOBOMA"^^xsd:string) AnnotationAssertion( "ocular coloboma, autosomal dominant"^^xsd:string) AnnotationAssertion( "ocular coloboma, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12270"^^xsd:string) AnnotationAssertion(rdfs:label "coloboma"^^xsd:string) SubClassOf( ) # Class: (aniridia) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/aniridia/"^^xsd:string) "An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004132"^^xsd:string) AnnotationAssertion( "GARD:5816"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.1"^^xsd:string) AnnotationAssertion( "ICD9CM:743.45"^^xsd:string) AnnotationAssertion( "MESH:D015783"^^xsd:string) AnnotationAssertion( "MIM:PS106210"^^xsd:string) AnnotationAssertion( "MONDO:0019172"^^xsd:string) AnnotationAssertion( "NCI:C84563"^^xsd:string) AnnotationAssertion( "ORDO:250923"^^xsd:string) AnnotationAssertion( "AN"^^xsd:string) AnnotationAssertion( "absent iris"^^xsd:string) AnnotationAssertion( "aplasia of iris"^^xsd:string) AnnotationAssertion( "congenital aniridia"^^xsd:string) AnnotationAssertion( "irideremia"^^xsd:string) AnnotationAssertion( "isolated aniridia"^^xsd:string) AnnotationAssertion( "CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY"^^xsd:string) AnnotationAssertion( "atypical aniridia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12271"^^xsd:string) AnnotationAssertion(rdfs:label "aniridia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anisometropia) AnnotationAssertion(Annotation( "MESH:D015858"^^xsd:string) "A condition of an inequality of refractive power of the two eyes."^^xsd:string) AnnotationAssertion( "ICD10CM:H52.31"^^xsd:string) AnnotationAssertion( "ICD9CM:367.31"^^xsd:string) AnnotationAssertion( "MESH:D015858"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12273"^^xsd:string) AnnotationAssertion(rdfs:label "anisometropia"^^xsd:string) SubClassOf( ) # Class: (cutaneous diphtheria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diphtheria"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec14/ch172/ch172c.html"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746"^^xsd:string) "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000683"^^xsd:string) AnnotationAssertion( "ICD10CM:A36.3"^^xsd:string) AnnotationAssertion( "ICD9CM:032.85"^^xsd:string) AnnotationAssertion( "NCI:C34544"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12275"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous diphtheria"^^xsd:string) SubClassOf( ) # Class: (malignant tumor of undescended testis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C62.0"^^xsd:string) AnnotationAssertion( "ICD9CM:186.0"^^xsd:string) AnnotationAssertion( "RDO:9003719"^^xsd:string) AnnotationAssertion( "malignant neoplasm of retained testis"^^xsd:string) AnnotationAssertion( "malignant neoplasm of undescended testis"^^xsd:string) AnnotationAssertion( "malignant tumor of retained testis"^^xsd:string) AnnotationAssertion( "malignant tumour of retained testis"^^xsd:string) AnnotationAssertion( "malignant tumour of undescended testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12276"^^xsd:string) AnnotationAssertion(rdfs:label "malignant tumor of undescended testis"^^xsd:string) SubClassOf( ) # Class: (femoral vein thrombophlebitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:451.11"^^xsd:string) AnnotationAssertion( "phlebitis and thrombophlebitis of femoral vein"^^xsd:string) AnnotationAssertion( "thrombophlebitis of deep femoral vein"^^xsd:string) AnnotationAssertion( "thrombophlebitis of the femoral vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12282"^^xsd:string) AnnotationAssertion(rdfs:label "femoral vein thrombophlebitis"^^xsd:string) SubClassOf( ) # Class: (testicular leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12286"^^xsd:string) AnnotationAssertion(rdfs:label "testicular leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crimean-Congo hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs208/en/"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.0"^^xsd:string) AnnotationAssertion( "ICD9CM:065.0"^^xsd:string) AnnotationAssertion( "MESH:D006479"^^xsd:string) AnnotationAssertion( "NCI:C34682"^^xsd:string) AnnotationAssertion( "CHF Congo virus"^^xsd:string) AnnotationAssertion( "Congo Virus Infections"^^xsd:string) AnnotationAssertion( "Congo virus infection"^^xsd:string) AnnotationAssertion( "Crimean hemorrhagic fever"^^xsd:string) AnnotationAssertion( "Crimean hemorrhagic fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12287"^^xsd:string) AnnotationAssertion(rdfs:label "Crimean-Congo hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paranoid schizophrenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Paranoid_schizophrenia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm"^^xsd:string) "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F20.0"^^xsd:string) AnnotationAssertion( "ICD9CM:295.3"^^xsd:string) AnnotationAssertion( "ICD9CM:295.32"^^xsd:string) AnnotationAssertion( "MESH:D012563"^^xsd:string) AnnotationAssertion( "NCI:C35006"^^xsd:string) AnnotationAssertion( "chronic paranoid schizophrenia"^^xsd:string) AnnotationAssertion( "paranoid schizophrenias"^^xsd:string) AnnotationAssertion( "paranoid type schizophrenia"^^xsd:string) AnnotationAssertion( "paranoid type schizophrenia subchronic state"^^xsd:string) AnnotationAssertion( "paraphrenia - late"^^xsd:string) AnnotationAssertion( "paraphrenic schizophrenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1229"^^xsd:string) AnnotationAssertion(rdfs:label "paranoid schizophrenia"^^xsd:string) SubClassOf( ) # Class: (atypical depressive disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F32.89"^^xsd:string) AnnotationAssertion( "ICD9CM:296.82"^^xsd:string) AnnotationAssertion( "RDO:9003234"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:192371004"^^xsd:string) "Atypical depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12294"^^xsd:string) AnnotationAssertion(rdfs:label "atypical depressive disorder"^^xsd:string) SubClassOf( ) # Class: (Vogt-Koyanagi-Harada disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome"^^xsd:string) "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7862"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.82"^^xsd:string) AnnotationAssertion( "ICD9CM:364.24"^^xsd:string) AnnotationAssertion( "MESH:D014607"^^xsd:string) AnnotationAssertion( "MONDO:0018092"^^xsd:string) AnnotationAssertion( "NCI:C85218"^^xsd:string) AnnotationAssertion( "Harada's disease"^^xsd:string) AnnotationAssertion( "Uveomeningoencephalitis"^^xsd:string) AnnotationAssertion( "VKH Syndrome"^^xsd:string) AnnotationAssertion( "VKH Syndrome (Vogt Koyanagi Harada)"^^xsd:string) AnnotationAssertion( "Vogt Koyanagi Harada syndrome"^^xsd:string) AnnotationAssertion( "Vogt-Koyanagi syndrome"^^xsd:string) AnnotationAssertion( "uveomeningoencephalitic syndrome"^^xsd:string) AnnotationAssertion( "uveomeningoencephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12297"^^xsd:string) AnnotationAssertion(rdfs:label "Vogt-Koyanagi-Harada disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic gall duct cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:155.1"^^xsd:string) AnnotationAssertion( "RDO:9003143"^^xsd:string) AnnotationAssertion( "Ca intrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "malignant neoplasm of intrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "malignant neoplasm of intrahepatic biliary passages"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187777008"^^xsd:string) "malignant neoplasm of intrahepatic gall duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12298"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic gall duct cancer"^^xsd:string) SubClassOf( ) # Class: (conjunctival pigmentation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000682"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.13"^^xsd:string) AnnotationAssertion( "ICD9CM:372.55"^^xsd:string) AnnotationAssertion( "RDO:9004848"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12304"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival pigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bloch-Sulzberger syndrome) AnnotationAssertion(Annotation( "MESH:D007184"^^xsd:string) "A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages."^^xsd:string) AnnotationAssertion( "MESH:C531716"^^xsd:string) AnnotationAssertion( "MIM:308300"^^xsd:string) AnnotationAssertion( "EFO:1000672"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.3"^^xsd:string) AnnotationAssertion( "MESH:D007184"^^xsd:string) AnnotationAssertion( "MONDO:0010631"^^xsd:string) AnnotationAssertion( "NCI:C84787"^^xsd:string) AnnotationAssertion( "Bloch-Siemens Syndrome"^^xsd:string) AnnotationAssertion( "Bloch-Siemens-Sulzberger Syndrome"^^xsd:string) AnnotationAssertion( "IP"^^xsd:string) AnnotationAssertion( "IP2"^^xsd:string) AnnotationAssertion( "Incontinentia pigmenti syndrome"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti, familial male-lethal type"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti, type II"^^xsd:string) AnnotationAssertion( "INCONTINENTIA PIGMENTI, ATYPICAL"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti, type II, atypical"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12305"^^xsd:string) AnnotationAssertion(rdfs:label "Bloch-Sulzberger syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitiligo) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vitiligo"^^xsd:string) "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193200"^^xsd:string) AnnotationAssertion( "MIM:606579"^^xsd:string) AnnotationAssertion( "MIM:607836"^^xsd:string) AnnotationAssertion( "MIM:608391"^^xsd:string) AnnotationAssertion( "MIM:608392"^^xsd:string) AnnotationAssertion( "MIM:609400"^^xsd:string) AnnotationAssertion( "EFO:0004208"^^xsd:string) AnnotationAssertion( "GARD:10751"^^xsd:string) AnnotationAssertion( "ICD10CM:L80"^^xsd:string) AnnotationAssertion( "ICD9CM:709.01"^^xsd:string) AnnotationAssertion( "MESH:D014820"^^xsd:string) AnnotationAssertion( "NCI:C26915"^^xsd:string) AnnotationAssertion( "SLEV1"^^xsd:string) AnnotationAssertion( "VTLG"^^xsd:string) AnnotationAssertion( "vitiligo-related systemic lupus erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AIS1"^^xsd:string) AnnotationAssertion( "AIS2"^^xsd:string) AnnotationAssertion( "AIS3"^^xsd:string) AnnotationAssertion( "AIS4"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED"^^xsd:string) AnnotationAssertion( "Autoimmune Disease, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Autoimmune Disease, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Autoimmune Disease, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "Autoimmune Disease, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "VAMAS1"^^xsd:string) AnnotationAssertion( "VAMAS2"^^xsd:string) AnnotationAssertion( "VAMAS3"^^xsd:string) AnnotationAssertion( "VAMAS4"^^xsd:string) AnnotationAssertion( "VAMAS5"^^xsd:string) AnnotationAssertion( "VAMAS6"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5"^^xsd:string) AnnotationAssertion( "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6"^^xsd:string) AnnotationAssertion( "DOID:12306"^^xsd:string) AnnotationAssertion(rdfs:label "vitiligo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior corneal pigmentation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.01"^^xsd:string) AnnotationAssertion( "ICD9CM:371.11"^^xsd:string) AnnotationAssertion( "RDO:9003424"^^xsd:string) AnnotationAssertion( "anterior corneal pigmentations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12307"^^xsd:string) AnnotationAssertion(rdfs:label "anterior corneal pigmentation"^^xsd:string) SubClassOf( ) # Class: (Dubin-Johnson syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome"^^xsd:string) "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. (DO)"^^xsd:string) AnnotationAssertion( "MIM:237500"^^xsd:string) AnnotationAssertion( "GARD:6289"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.6"^^xsd:string) AnnotationAssertion( "MESH:D007566"^^xsd:string) AnnotationAssertion( "NCI:C34741"^^xsd:string) AnnotationAssertion( "ABCC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DJS"^^xsd:string) AnnotationAssertion( "HBLRDJ"^^xsd:string) AnnotationAssertion( "HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemia 2"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemia II"^^xsd:string) AnnotationAssertion( "chronic idiopathic jaundice"^^xsd:string) AnnotationAssertion( "chronic idiopathic jaundices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12308"^^xsd:string) AnnotationAssertion(rdfs:label "Dubin-Johnson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urticaria pigmentosa) AnnotationAssertion(Annotation( "MESH:D014582"^^xsd:string) "The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules."^^xsd:string) AnnotationAssertion( "EFO:1001229"^^xsd:string) AnnotationAssertion( "MESH:D014582"^^xsd:string) AnnotationAssertion( "NCI:C3433"^^xsd:string) AnnotationAssertion( "ORDO:79457"^^xsd:string) AnnotationAssertion( "Maculopapular Cutaneous Mastocytoses"^^xsd:string) AnnotationAssertion( "Maculopapular Cutaneous Mastocytosis"^^xsd:string) AnnotationAssertion( "UP/MPCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12309"^^xsd:string) AnnotationAssertion(rdfs:label "urticaria pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stromal corneal pigmentation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000770"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.06"^^xsd:string) AnnotationAssertion( "ICD9CM:371.12"^^xsd:string) AnnotationAssertion( "RDO:9003426"^^xsd:string) AnnotationAssertion( "stromal corneal pigmentations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12311"^^xsd:string) AnnotationAssertion(rdfs:label "stromal corneal pigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granular corneal dystrophy) AnnotationAssertion(Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.53"^^xsd:string) AnnotationAssertion( "ICD9CM:371.53"^^xsd:string) AnnotationAssertion( "NCI:C34651"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12318"^^xsd:string) AnnotationAssertion(rdfs:label "granular corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cough variant asthma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19272144"^^xsd:string) "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J45.991"^^xsd:string) AnnotationAssertion( "ICD9CM:493.82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12323"^^xsd:string) AnnotationAssertion(rdfs:label "cough variant asthma"^^xsd:string) SubClassOf( ) # Class: (kyphoscoliotic heart disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I27.1"^^xsd:string) AnnotationAssertion( "ICD9CM:416.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12325"^^xsd:string) AnnotationAssertion(rdfs:label "kyphoscoliotic heart disease"^^xsd:string) SubClassOf( ) # Class: (chronic pulmonary heart disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:416.8"^^xsd:string) AnnotationAssertion( "RDO:9002765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12326"^^xsd:string) AnnotationAssertion(rdfs:label "chronic pulmonary heart disease"^^xsd:string) SubClassOf( ) # Class: (marasmus) AnnotationAssertion(Annotation( "https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf"^^xsd:string) "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001033"^^xsd:string) AnnotationAssertion( "ICD10CM:E41"^^xsd:string) AnnotationAssertion( "ICD9CM:261"^^xsd:string) AnnotationAssertion( "RDO:9003147"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:261"^^xsd:string) "Nutritional atrophy"^^xsd:string) AnnotationAssertion( "Nutritional marasmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12328"^^xsd:string) AnnotationAssertion(rdfs:label "marasmus"^^xsd:string) SubClassOf( ) # Class: (transvestism) AnnotationAssertion(Annotation( "MESH:D014190"^^xsd:string) "Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)"^^xsd:string) AnnotationAssertion( "ICD10CM:F64.1"^^xsd:string) AnnotationAssertion( "ICD9CM:302.3"^^xsd:string) AnnotationAssertion( "MESH:D014190"^^xsd:string) AnnotationAssertion( "NCI:C94359"^^xsd:string) AnnotationAssertion( "Transvestic Fetishism"^^xsd:string) AnnotationAssertion( "Transvestic Fetishisms"^^xsd:string) AnnotationAssertion( "Transvestisms"^^xsd:string) AnnotationAssertion( "cross dresser"^^xsd:string) AnnotationAssertion( "dual-role transvestism"^^xsd:string) AnnotationAssertion( "fetishistic transvestism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1233"^^xsd:string) AnnotationAssertion(rdfs:label "transvestism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hematocele of tunica vaginalis testis) AnnotationAssertion(Annotation( "MESH:D006398"^^xsd:string) "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele."^^xsd:string) AnnotationAssertion( "MESH:D006398"^^xsd:string) AnnotationAssertion( "Scrotal Hematocele"^^xsd:string) AnnotationAssertion( "hematocele"^^xsd:string) AnnotationAssertion( "hematoceles"^^xsd:string) AnnotationAssertion( "male hematocele"^^xsd:string) AnnotationAssertion( "scrotal hematoceles"^^xsd:string) AnnotationAssertion( "testicular hematocele"^^xsd:string) AnnotationAssertion( "testicular hematoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12332"^^xsd:string) AnnotationAssertion(rdfs:label "hematocele of tunica vaginalis testis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male genital organ stricture) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:608.85"^^xsd:string) AnnotationAssertion( "RDO:9004648"^^xsd:string) AnnotationAssertion( "stricture of male genital organs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12333"^^xsd:string) AnnotationAssertion(rdfs:label "male genital organ stricture"^^xsd:string) SubClassOf( ) # Class: (male genital organ vascular disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N50.1"^^xsd:string) AnnotationAssertion( "ICD9CM:608.83"^^xsd:string) AnnotationAssertion( "RDO:9004654"^^xsd:string) AnnotationAssertion( "vascular disorder of male genital organs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12335"^^xsd:string) AnnotationAssertion(rdfs:label "male genital organ vascular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male infertility) AnnotationAssertion(Annotation( "MESH:D007248"^^xsd:string) "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility."^^xsd:string) AnnotationAssertion( "EFO:0004248"^^xsd:string) AnnotationAssertion( "ICD10CM:N46"^^xsd:string) AnnotationAssertion( "ICD9CM:606"^^xsd:string) AnnotationAssertion( "MESH:D007248"^^xsd:string) AnnotationAssertion( "male sterility"^^xsd:string) AnnotationAssertion( "male sub-fertility"^^xsd:string) AnnotationAssertion( "male subfertility"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY DUE TO GONADAL DYSGENESIS OR SPERM DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12336"^^xsd:string) AnnotationAssertion(rdfs:label "male infertility"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (varicocele) AnnotationAssertion(Annotation( "MESH:D014646"^^xsd:string) "A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume."^^xsd:string) AnnotationAssertion( "ICD10CM:I86.1"^^xsd:string) AnnotationAssertion( "ICD9CM:456.4"^^xsd:string) AnnotationAssertion( "MESH:D014646"^^xsd:string) AnnotationAssertion( "Varicoceles"^^xsd:string) AnnotationAssertion( "scrotal varices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12337"^^xsd:string) AnnotationAssertion(rdfs:label "varicocele"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retroperitoneal lymphoma) AnnotationAssertion( "MONDO:0001499"^^xsd:string) AnnotationAssertion( "NCI:C7353"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12339"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gender incongruence) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm"^^xsd:string) "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:10919"^^xsd:string) AnnotationAssertion( "MIM:600952"^^xsd:string) AnnotationAssertion( "EFO:0008587"^^xsd:string) AnnotationAssertion( "ICD10CM:F64.2"^^xsd:string) AnnotationAssertion( "ICD9CM:302.50"^^xsd:string) AnnotationAssertion( "ICD9CM:302.6"^^xsd:string) AnnotationAssertion( "MESH:D014189"^^xsd:string) AnnotationAssertion( "gender identify disorder"^^xsd:string) AnnotationAssertion( "gender identity disorder"^^xsd:string) AnnotationAssertion( "transsexualism"^^xsd:string) AnnotationAssertion( "transsexuality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1234"^^xsd:string) AnnotationAssertion(rdfs:label "gender incongruence"^^xsd:string) SubClassOf( ) # Class: (retroperitoneal sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retroperitoneal_space"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/"^^xsd:string) "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12341"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal sarcoma"^^xsd:string) SubClassOf( ) # Class: (retroperitoneum carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7352"^^xsd:string) AnnotationAssertion( "carcinoma of Retroperitoneum"^^xsd:string) AnnotationAssertion( "carcinoma of the retroperitoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12342"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneum carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteogenesis_imperfecta"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta"^^xsd:string) Annotation( "http://orthoinfo.aaos.org/topic.cfm?topic=a00051"^^xsd:string) Annotation( "http://osteogenesisimperfecta.org/"^^xsd:string) Annotation( "http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000754"^^xsd:string) AnnotationAssertion( "OMIA:002112"^^xsd:string) AnnotationAssertion( "GARD:1017"^^xsd:string) AnnotationAssertion( "ICD9CM:756.51"^^xsd:string) AnnotationAssertion( "MESH:D010013"^^xsd:string) AnnotationAssertion( "MIM:PS166200"^^xsd:string) AnnotationAssertion( "NCI:C26837"^^xsd:string) AnnotationAssertion( "NCI:C99003"^^xsd:string) AnnotationAssertion( "ORDO:666"^^xsd:string) AnnotationAssertion( "Fragilitas Ossium"^^xsd:string) AnnotationAssertion( "Lobstein Disease"^^xsd:string) AnnotationAssertion( "Lobstein's Disease"^^xsd:string) AnnotationAssertion( "Lobstein's syndrome"^^xsd:string) AnnotationAssertion( "Lobsteins Disease"^^xsd:string) AnnotationAssertion( "Vrolik's disease"^^xsd:string) AnnotationAssertion( "brittle bone disease"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta with blue sclerae"^^xsd:string) AnnotationAssertion( "osteopsathyrosis"^^xsd:string) AnnotationAssertion( "mild osteogenesis imperfecta"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta, recessive"^^xsd:string) AnnotationAssertion( "osteopenic nonfracture syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12347"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary eye hypotony) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.44"^^xsd:string) AnnotationAssertion( "ICD9CM:360.31"^^xsd:string) AnnotationAssertion( "RDO:9004884"^^xsd:string) AnnotationAssertion( "primary hypotony of eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12349"^^xsd:string) AnnotationAssertion(rdfs:label "primary eye hypotony"^^xsd:string) SubClassOf( ) # Class: (fetishism) AnnotationAssertion(Annotation( "MESH:D005329"^^xsd:string) "A condition in which inanimate objects are utilized as a preferred or exclusive method of stimulating erotic arousal."^^xsd:string) AnnotationAssertion( "ICD10CM:F65.0"^^xsd:string) AnnotationAssertion( "ICD9CM:302.81"^^xsd:string) AnnotationAssertion( "MESH:D005329"^^xsd:string) AnnotationAssertion( "NCI:C94353"^^xsd:string) AnnotationAssertion( "Fetishism (Psychiatric)"^^xsd:string) AnnotationAssertion( "Fetishisms (Psychiatric)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1235"^^xsd:string) AnnotationAssertion(rdfs:label "fetishism"^^xsd:string) SubClassOf( ) # Class: (alcoholic hepatitis) AnnotationAssertion(Annotation( "MESH:D006519"^^xsd:string) "INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001345"^^xsd:string) AnnotationAssertion( "ICD9CM:571.1"^^xsd:string) AnnotationAssertion( "MESH:D006519"^^xsd:string) AnnotationAssertion( "NCI:C34352"^^xsd:string) AnnotationAssertion( "acute alcoholic hepatitis"^^xsd:string) AnnotationAssertion( "acute alcoholic liver disease"^^xsd:string) AnnotationAssertion( "chronic alcoholic hepatitides"^^xsd:string) AnnotationAssertion( "chronic alcoholic hepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12351"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostatocystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N41.3"^^xsd:string) AnnotationAssertion( "ICD9CM:601.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12355"^^xsd:string) AnnotationAssertion(rdfs:label "prostatocystitis"^^xsd:string) SubClassOf( ) # Class: (viral labyrinthitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false"^^xsd:string) "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.35"^^xsd:string) AnnotationAssertion( "epidemic vertigo"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12357"^^xsd:string) AnnotationAssertion(rdfs:label "viral labyrinthitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (patulous eustachian tube) AnnotationAssertion(Annotation( "http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false"^^xsd:string) "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10812"^^xsd:string) AnnotationAssertion( "ICD10CM:H69.0"^^xsd:string) AnnotationAssertion( "ICD9CM:381.7"^^xsd:string) AnnotationAssertion( "RDO:9003838"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12358"^^xsd:string) AnnotationAssertion(rdfs:label "patulous eustachian tube"^^xsd:string) SubClassOf( ) # Class: (endocrine exophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:376.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12359"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine exophthalmos"^^xsd:string) SubClassOf( ) # Class: (lateral displacement of eye) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.21"^^xsd:string) AnnotationAssertion( "ICD9CM:376.36"^^xsd:string) AnnotationAssertion( "lateral displacement of globe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12360"^^xsd:string) AnnotationAssertion(rdfs:label "lateral displacement of eye"^^xsd:string) SubClassOf( ) # Class: (Graves' disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Graves_disease"^^xsd:string) "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275000"^^xsd:string) AnnotationAssertion( "MIM:300351"^^xsd:string) AnnotationAssertion( "MIM:603372"^^xsd:string) AnnotationAssertion( "MIM:603388"^^xsd:string) AnnotationAssertion( "EFO:0004237"^^xsd:string) AnnotationAssertion( "ICD10CM:E05.0"^^xsd:string) AnnotationAssertion( "MESH:D006111"^^xsd:string) AnnotationAssertion( "NCI:C3071"^^xsd:string) AnnotationAssertion( "Basedow disease"^^xsd:string) AnnotationAssertion( "Basedow's disease"^^xsd:string) AnnotationAssertion( "Basedows disease"^^xsd:string) AnnotationAssertion( "GRD"^^xsd:string) AnnotationAssertion( "Grave's disease"^^xsd:string) AnnotationAssertion( "Graves disease"^^xsd:string) AnnotationAssertion( "Graves hyperthyroidism"^^xsd:string) AnnotationAssertion( "autoimmune hyperthyroidism"^^xsd:string) AnnotationAssertion( "exophthalmic goiter"^^xsd:string) AnnotationAssertion( "exophthalmic goiters"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GRD1"^^xsd:string) AnnotationAssertion( "GRD2"^^xsd:string) AnnotationAssertion( "GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2"^^xsd:string) AnnotationAssertion( "GRDX2"^^xsd:string) AnnotationAssertion( "Graves disease, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "Graves disease, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "Graves disease, susceptibility to, X-linked 1"^^xsd:string) AnnotationAssertion( "Hyperthyroidism, Autoimmune Graves Disease, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "DOID:12361"^^xsd:string) AnnotationAssertion(rdfs:label "Graves' disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thyrotoxic exophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:376.21"^^xsd:string) AnnotationAssertion( "RDO:9003019"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12362"^^xsd:string) AnnotationAssertion(rdfs:label "thyrotoxic exophthalmos"^^xsd:string) SubClassOf( ) # Class: (intermittent proptosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.25"^^xsd:string) AnnotationAssertion( "ICD9CM:376.34"^^xsd:string) AnnotationAssertion( "intermittent exophthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12363"^^xsd:string) AnnotationAssertion(rdfs:label "intermittent proptosis"^^xsd:string) SubClassOf( ) # Class: (pulsating exophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.26"^^xsd:string) AnnotationAssertion( "ICD9CM:376.35"^^xsd:string) AnnotationAssertion( "RDO:9003029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12364"^^xsd:string) AnnotationAssertion(rdfs:label "pulsating exophthalmos"^^xsd:string) SubClassOf( ) # Class: (malaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malaria"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria"^^xsd:string) "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609148"^^xsd:string) AnnotationAssertion( "MIM:611162"^^xsd:string) AnnotationAssertion( "EFO:0001068"^^xsd:string) AnnotationAssertion( "EFO:0009157"^^xsd:string) AnnotationAssertion( "GARD:6961"^^xsd:string) AnnotationAssertion( "ICD10CM:B54"^^xsd:string) AnnotationAssertion( "ICD9CM:084"^^xsd:string) AnnotationAssertion( "MESH:D008288"^^xsd:string) AnnotationAssertion( "NCI:C34797"^^xsd:string) AnnotationAssertion( "ORDO:673"^^xsd:string) AnnotationAssertion( "MALS"^^xsd:string) AnnotationAssertion( "Plasmodium Infection"^^xsd:string) AnnotationAssertion( "Plasmodium Infections"^^xsd:string) AnnotationAssertion( "induced malaria"^^xsd:string) AnnotationAssertion( "marsh fever"^^xsd:string) AnnotationAssertion( "paludism"^^xsd:string) AnnotationAssertion( "remittent fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE"^^xsd:string) AnnotationAssertion( "Glycophorin C, Gerbich Variant"^^xsd:string) AnnotationAssertion( "MALARIA, CEREBRAL, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "MALARIA, CEREBRAL, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MALARIA, MILD, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MALARIA, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "MALARIA, SEVERE, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "MALARIA, SEVERE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "plasmodium vivax, resistance to"^^xsd:string) AnnotationAssertion( "susceptibility to malaria"^^xsd:string) AnnotationAssertion( "DOID:12365"^^xsd:string) AnnotationAssertion(rdfs:label "malaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prolapse of urethra) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Urethrocele"^^xsd:string) "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N81.0"^^xsd:string) AnnotationAssertion( "ICD9CM:618.03"^^xsd:string) AnnotationAssertion( "NCI:C123256"^^xsd:string) AnnotationAssertion( "urethrocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12369"^^xsd:string) AnnotationAssertion(rdfs:label "prolapse of urethra"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.4"^^xsd:string) AnnotationAssertion( "ICD9CM:371.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1237"^^xsd:string) AnnotationAssertion(rdfs:label "corneal degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchopneumonia) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia"^^xsd:string) "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007184"^^xsd:string) AnnotationAssertion( "ICD10CM:J18.0"^^xsd:string) AnnotationAssertion( "ICD9CM:485"^^xsd:string) AnnotationAssertion( "MESH:D001996"^^xsd:string) AnnotationAssertion( "NCI:C26710"^^xsd:string) AnnotationAssertion( "Bronchial Pneumonia"^^xsd:string) AnnotationAssertion( "Bronchial Pneumonias"^^xsd:string) AnnotationAssertion( "Bronchopneumonias"^^xsd:string) AnnotationAssertion( "chest infection - bronchopneumonia"^^xsd:string) AnnotationAssertion( "lobular pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12375"^^xsd:string) AnnotationAssertion(rdfs:label "bronchopneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile spinal muscular atrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string) "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:335.11"^^xsd:string) AnnotationAssertion( "MIM:253400"^^xsd:string) AnnotationAssertion( "NCI:C118847"^^xsd:string) AnnotationAssertion( "KWS"^^xsd:string) AnnotationAssertion( "Kugelberg Welander disease"^^xsd:string) AnnotationAssertion( "Kugelberg Welander syndrome"^^xsd:string) AnnotationAssertion( "SMA III"^^xsd:string) AnnotationAssertion( "SMA3"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy type 3"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy type III"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, familial"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, mild childhood and adolescent form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12376"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile spinal muscular atrophy"^^xsd:string) SubClassOf( ) # Class: (spinal muscular atrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spinal_muscular_atrophy"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26022173"^^xsd:string) "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003823"^^xsd:string) AnnotationAssertion( "EFO:0008525"^^xsd:string) AnnotationAssertion( "GARD:7674"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.9"^^xsd:string) AnnotationAssertion( "ICD9CM:335.1"^^xsd:string) AnnotationAssertion( "MESH:D009134"^^xsd:string) AnnotationAssertion( "NCI:C85075"^^xsd:string) AnnotationAssertion( "adult onset spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "bulbospinal neuronopathies"^^xsd:string) AnnotationAssertion( "bulbospinal neuronopathy"^^xsd:string) AnnotationAssertion( "distal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "hereditary motor neuronopathies"^^xsd:string) AnnotationAssertion( "hereditary motor neuronopathy"^^xsd:string) AnnotationAssertion( "myelopathic muscular atrophy"^^xsd:string) AnnotationAssertion( "oculopharyngeal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "progressive myelopathic muscular atrophy"^^xsd:string) AnnotationAssertion( "progressive proximal myelopathic muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal amyotrophies"^^xsd:string) AnnotationAssertion( "spinal amyotrophy"^^xsd:string) AnnotationAssertion( "proximal spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12377"^^xsd:string) AnnotationAssertion(rdfs:label "spinal muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex partial epilepsy) AnnotationAssertion(Annotation( "MESH:D017029"^^xsd:string) "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)"^^xsd:string) AnnotationAssertion( "EFO:1000877"^^xsd:string) AnnotationAssertion( "MESH:D017029"^^xsd:string) AnnotationAssertion( "Disorder, Complex Partial Seizures"^^xsd:string) AnnotationAssertion( "Psychic Equivalent Epilepsy"^^xsd:string) AnnotationAssertion( "complex partial epileptic seizure"^^xsd:string) AnnotationAssertion( "complex partial seizure disorder"^^xsd:string) AnnotationAssertion( "cryptogenic partial complex epilepsy"^^xsd:string) AnnotationAssertion( "psychomotor epilepsy"^^xsd:string) AnnotationAssertion( "symptomatic partial complex epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12382"^^xsd:string) AnnotationAssertion(rdfs:label "complex partial epilepsy"^^xsd:string) SubClassOf( ) # Class: (dysentery) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Dysentery"^^xsd:string) Annotation( "http://www.who.int/topics/dysentery/en/"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery"^^xsd:string) "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001869"^^xsd:string) AnnotationAssertion( "ICD9CM:009.2"^^xsd:string) AnnotationAssertion( "MESH:D004403"^^xsd:string) AnnotationAssertion( "Infectious diarrhea"^^xsd:string) AnnotationAssertion( "infectious diarrheal disease"^^xsd:string) AnnotationAssertion( "infectious diarrheal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12384"^^xsd:string) AnnotationAssertion(rdfs:label "dysentery"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (shigellosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005585"^^xsd:string) AnnotationAssertion( "GARD:4818"^^xsd:string) AnnotationAssertion( "ICD10CM:A03"^^xsd:string) AnnotationAssertion( "ICD10CM:A03.0"^^xsd:string) AnnotationAssertion( "ICD10CM:A03.1"^^xsd:string) AnnotationAssertion( "ICD10CM:A03.2"^^xsd:string) AnnotationAssertion( "ICD9CM:004"^^xsd:string) AnnotationAssertion( "ICD9CM:004.0"^^xsd:string) AnnotationAssertion( "ICD9CM:004.1"^^xsd:string) AnnotationAssertion( "ICD9CM:004.2"^^xsd:string) AnnotationAssertion( "MESH:D004405"^^xsd:string) AnnotationAssertion( "NCI:C157978"^^xsd:string) AnnotationAssertion( "Bacillary Dysentery"^^xsd:string) AnnotationAssertion( "Dysentery, Shigella dysenteriae type 1"^^xsd:string) AnnotationAssertion( "Shiga bacillus Dysentery"^^xsd:string) AnnotationAssertion( "Shigella Dysenteries"^^xsd:string) AnnotationAssertion( "Shigella Dysentery"^^xsd:string) AnnotationAssertion( "Shigella boydii Dysentery"^^xsd:string) AnnotationAssertion( "Shigella boydii dysenteries"^^xsd:string) AnnotationAssertion( "Shigella boydii infectious disease"^^xsd:string) AnnotationAssertion( "Shigella dysenteriae Dysenteries"^^xsd:string) AnnotationAssertion( "Shigella dysenteriae Dysentery"^^xsd:string) AnnotationAssertion( "Shigella flexneri Dysenteries"^^xsd:string) AnnotationAssertion( "Shigella flexneri Dysentery"^^xsd:string) AnnotationAssertion( "Shigella flexneri infectious disease"^^xsd:string) AnnotationAssertion( "Shigella gastroenteritis"^^xsd:string) AnnotationAssertion( "Shigella sonnei Dysenteries"^^xsd:string) AnnotationAssertion( "Shigella sonnei dysentery"^^xsd:string) AnnotationAssertion( "Shigella sonnei infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12385"^^xsd:string) AnnotationAssertion(rdfs:label "shigellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (balantidiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14760781"^^xsd:string) "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007163"^^xsd:string) AnnotationAssertion( "GARD:809"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.0"^^xsd:string) AnnotationAssertion( "ICD9CM:007.0"^^xsd:string) AnnotationAssertion( "MESH:D001447"^^xsd:string) AnnotationAssertion( "NCI:C84583"^^xsd:string) AnnotationAssertion( "B coli infection"^^xsd:string) AnnotationAssertion( "Balantidiases"^^xsd:string) AnnotationAssertion( "Balantidiosis"^^xsd:string) AnnotationAssertion( "Balantidium coli infection"^^xsd:string) AnnotationAssertion( "large-intestinal infection with Balantidium coli"^^xsd:string) AnnotationAssertion( "human balantidiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12386"^^xsd:string) AnnotationAssertion(rdfs:label "balantidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic diabetes insipidus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000511.htm"^^xsd:string) "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)"^^xsd:string) AnnotationAssertion( "GARD:7178"^^xsd:string) AnnotationAssertion( "ICD10CM:N25.1"^^xsd:string) AnnotationAssertion( "ICD9CM:588.1"^^xsd:string) AnnotationAssertion( "MESH:D018500"^^xsd:string) AnnotationAssertion( "NCI:C84919"^^xsd:string) AnnotationAssertion( "ORDO:223"^^xsd:string) AnnotationAssertion( "ADH-Resistant Diabetes Insipidus"^^xsd:string) AnnotationAssertion( "Congenital Nephrogenic Diabetes Insipidus"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus Renalis"^^xsd:string) AnnotationAssertion( "NDI"^^xsd:string) AnnotationAssertion( "acquired nephrogenic diabetes insipidus"^^xsd:string) AnnotationAssertion( "vasopressin-resistant diabetes insipidus"^^xsd:string) AnnotationAssertion( "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12387"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic diabetes insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurohypophyseal diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15070970/"^^xsd:string) "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125700"^^xsd:string) AnnotationAssertion( "MESH:D020790"^^xsd:string) AnnotationAssertion( "NCI:C84933"^^xsd:string) AnnotationAssertion( "CDI"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus Cranial Type"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus Primary Central"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus Secondary To Vasopressin Deficiency"^^xsd:string) AnnotationAssertion( "Diabetes Insipidus, Neurohypophyseal Type"^^xsd:string) AnnotationAssertion( "Neurogenic Diabetes Insipidus"^^xsd:string) AnnotationAssertion( "Pituitary Diabetes Insipidus"^^xsd:string) AnnotationAssertion( "Vasopressin Defective Diabetes Insipidus"^^xsd:string) AnnotationAssertion( "vasopressin deficiency"^^xsd:string) AnnotationAssertion( "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12388"^^xsd:string) AnnotationAssertion(rdfs:label "neurohypophyseal diabetes insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spastic entropion) AnnotationAssertion( "ICD9CM:374.03"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12395"^^xsd:string) AnnotationAssertion(rdfs:label "spastic entropion"^^xsd:string) SubClassOf( ) # Class: (entropion) AnnotationAssertion( "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "ICD9CM:374.00"^^xsd:string) AnnotationAssertion( "MESH:D004774"^^xsd:string) AnnotationAssertion( "Entropions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12397"^^xsd:string) AnnotationAssertion(rdfs:label "entropion"^^xsd:string) SubClassOf( ) # Class: (pathological gambling) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/"^^xsd:string) "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606349"^^xsd:string) AnnotationAssertion( "EFO:0004699"^^xsd:string) AnnotationAssertion( "EFO:1001926"^^xsd:string) AnnotationAssertion( "ICD10CM:F63.0"^^xsd:string) AnnotationAssertion( "ICD9CM:312.31"^^xsd:string) AnnotationAssertion( "MESH:D005715"^^xsd:string) AnnotationAssertion( "NCI:C94335"^^xsd:string) AnnotationAssertion( "compulsive gambling"^^xsd:string) AnnotationAssertion( "gambling"^^xsd:string) AnnotationAssertion( "pathologic gambling"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12399"^^xsd:string) AnnotationAssertion(rdfs:label "pathological gambling"^^xsd:string) SubClassOf( ) # Class: (leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leukemia"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45343"^^xsd:string) "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000565"^^xsd:string) AnnotationAssertion( "ICD10CM:C95.90"^^xsd:string) AnnotationAssertion( "ICD9CM:208"^^xsd:string) AnnotationAssertion( "ICDO:9800/3"^^xsd:string) AnnotationAssertion( "MESH:D007938"^^xsd:string) AnnotationAssertion( "NCI:C128120"^^xsd:string) AnnotationAssertion( "NCI:C141365"^^xsd:string) AnnotationAssertion( "NCI:C21604"^^xsd:string) AnnotationAssertion( "NCI:C3161"^^xsd:string) AnnotationAssertion( "NCI:C60428"^^xsd:string) AnnotationAssertion( "Leucocythemia"^^xsd:string) AnnotationAssertion( "leucocythaemia"^^xsd:string) AnnotationAssertion( "leucocythaemias"^^xsd:string) AnnotationAssertion( "leucocythemias"^^xsd:string) AnnotationAssertion( "leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Leukemia, post-chemotherapy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:1240"^^xsd:string) AnnotationAssertion(rdfs:label "leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kleptomania) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Kleptomania"^^xsd:string) "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F63.2"^^xsd:string) AnnotationAssertion( "ICD9CM:312.32"^^xsd:string) AnnotationAssertion( "NCI:C94333"^^xsd:string) AnnotationAssertion( "pathological stealing"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12400"^^xsd:string) AnnotationAssertion(rdfs:label "kleptomania"^^xsd:string) SubClassOf( ) # Class: (intermittent explosive disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Intermittent_explosive_disorder"^^xsd:string) "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F63.81"^^xsd:string) AnnotationAssertion( "ICD9CM:301.3"^^xsd:string) AnnotationAssertion( "ICD9CM:312.34"^^xsd:string) AnnotationAssertion( "NCI:C94332"^^xsd:string) AnnotationAssertion( "explosive personality disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12401"^^xsd:string) AnnotationAssertion(rdfs:label "intermittent explosive disorder"^^xsd:string) SubClassOf( ) # Class: (pyromania) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pyromania"^^xsd:string) "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F63.1"^^xsd:string) AnnotationAssertion( "ICD9CM:312.33"^^xsd:string) AnnotationAssertion( "MESH:D005391"^^xsd:string) AnnotationAssertion( "NCI:C94334"^^xsd:string) AnnotationAssertion( "arson"^^xsd:string) AnnotationAssertion( "arsons"^^xsd:string) AnnotationAssertion( "firesetting behavior"^^xsd:string) AnnotationAssertion( "firesetting behaviors"^^xsd:string) AnnotationAssertion( "pathological firesetting"^^xsd:string) AnnotationAssertion( "pyromanias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12402"^^xsd:string) AnnotationAssertion(rdfs:label "pyromania"^^xsd:string) SubClassOf( ) # Class: (tinea pedis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot"^^xsd:string) "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007512"^^xsd:string) AnnotationAssertion( "ICD10CM:B35.3"^^xsd:string) AnnotationAssertion( "ICD9CM:110.4"^^xsd:string) AnnotationAssertion( "MESH:D014008"^^xsd:string) AnnotationAssertion( "athlete foot"^^xsd:string) AnnotationAssertion( "athlete's foot"^^xsd:string) AnnotationAssertion( "athletes foot"^^xsd:string) AnnotationAssertion( "dermatophytosis of foot"^^xsd:string) AnnotationAssertion( "ringworm of foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12403"^^xsd:string) AnnotationAssertion(rdfs:label "tinea pedis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (luxation of globe) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.82"^^xsd:string) AnnotationAssertion( "ICD9CM:360.81"^^xsd:string) AnnotationAssertion( "RDO:9003052"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:20842008"^^xsd:string) "Luxation of eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1241"^^xsd:string) AnnotationAssertion(rdfs:label "luxation of globe"^^xsd:string) SubClassOf( ) # Class: (globe disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Globe_(human_eye)"^^xsd:string) "An eye disease that involves the globe of the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.39"^^xsd:string) AnnotationAssertion( "ICD9CM:360.29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1242"^^xsd:string) AnnotationAssertion(rdfs:label "globe disease"^^xsd:string) SubClassOf( ) # Class: (thyrocalcitonin secretion disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:246.0"^^xsd:string) AnnotationAssertion( "RDO:9004420"^^xsd:string) AnnotationAssertion( "disorder of thyrocalcitonin secretion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12424"^^xsd:string) AnnotationAssertion(rdfs:label "thyrocalcitonin secretion disease"^^xsd:string) SubClassOf( ) # Class: (labia minora cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13103721"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24113413"^^xsd:string) "A vulva cancer that is located_in the labium minora. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C51.1"^^xsd:string) AnnotationAssertion( "ICD9CM:184.2"^^xsd:string) AnnotationAssertion( "NCI:C7637"^^xsd:string) AnnotationAssertion( "malignant neoplasm of labia minora"^^xsd:string) AnnotationAssertion( "malignant neoplasm of labium minus"^^xsd:string) AnnotationAssertion( "malignant tumor of labia minora"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1243"^^xsd:string) AnnotationAssertion(rdfs:label "labia minora cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjugate gaze palsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:378.81"^^xsd:string) AnnotationAssertion( "palsy of conjugate gaze"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12445"^^xsd:string) AnnotationAssertion(rdfs:label "conjugate gaze palsy"^^xsd:string) SubClassOf( ) # Class: (aplastic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aplastic_anemia"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/"^^xsd:string) "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006926"^^xsd:string) AnnotationAssertion( "EFO:0006927"^^xsd:string) AnnotationAssertion( "GARD:5836"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.9"^^xsd:string) AnnotationAssertion( "ICD9CM:284.9"^^xsd:string) AnnotationAssertion( "MESH:D000741"^^xsd:string) AnnotationAssertion( "MIM:609135"^^xsd:string) AnnotationAssertion( "MONDO:0015909"^^xsd:string) AnnotationAssertion( "NCI:C2870"^^xsd:string) AnnotationAssertion( "ORDO:182040"^^xsd:string) AnnotationAssertion( "aplastic anemias"^^xsd:string) AnnotationAssertion( "hypoplastic anemia"^^xsd:string) AnnotationAssertion( "hypoplastic anemias"^^xsd:string) AnnotationAssertion( "INHERITED APLASTIC ANEMIA"^^xsd:string) AnnotationAssertion( "acquired aplastic anemia"^^xsd:string) AnnotationAssertion( "severe aplastic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APLASTIC ANEMIA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:12449"^^xsd:string) AnnotationAssertion(rdfs:label "aplastic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulva cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vulvar_cancer"^^xsd:string) "A female reproductive organ cancer that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9349"^^xsd:string) AnnotationAssertion( "ICD10CM:C51"^^xsd:string) AnnotationAssertion( "ICD9CM:184.4"^^xsd:string) AnnotationAssertion( "NCI:C7502"^^xsd:string) AnnotationAssertion( "Ca vulva"^^xsd:string) AnnotationAssertion( "cancer of the vulva"^^xsd:string) AnnotationAssertion( "cancer of vulva"^^xsd:string) AnnotationAssertion( "malignant neoplasm of vulva"^^xsd:string) AnnotationAssertion( "malignant tumor of vulva"^^xsd:string) AnnotationAssertion( "malignant vulvar tumor"^^xsd:string) AnnotationAssertion( "vulva cancers"^^xsd:string) AnnotationAssertion( "vulval cancer"^^xsd:string) AnnotationAssertion( "vulvar cancer"^^xsd:string) AnnotationAssertion( "vulvar cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1245"^^xsd:string) AnnotationAssertion(rdfs:label "vulva cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancytopenia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pancytopenia"^^xsd:string) "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.81"^^xsd:string) AnnotationAssertion( "ICD9CM:284.1"^^xsd:string) AnnotationAssertion( "MESH:D010198"^^xsd:string) AnnotationAssertion( "NCI:C34889"^^xsd:string) AnnotationAssertion( "NCI:C80693"^^xsd:string) AnnotationAssertion( "pancytopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12450"^^xsd:string) AnnotationAssertion(rdfs:label "pancytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sulfhemoglobinemia) AnnotationAssertion(Annotation( "MESH:D013436"^^xsd:string) "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001200"^^xsd:string) AnnotationAssertion( "MESH:D013436"^^xsd:string) AnnotationAssertion( "sulfemoglobinemia"^^xsd:string) AnnotationAssertion( "sulfhemoglobinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12451"^^xsd:string) AnnotationAssertion(rdfs:label "sulfhemoglobinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secondary hyperparathyroidism of renal origin) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N25.81"^^xsd:string) AnnotationAssertion( "ICD9CM:588.81"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:19034001"^^xsd:string) "hyperparathyroidism due to renal insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12465"^^xsd:string) AnnotationAssertion(rdfs:label "secondary hyperparathyroidism of renal origin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secondary hyperparathyroidism) AnnotationAssertion(Annotation( "MESH:D006962"^^xsd:string) "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY."^^xsd:string) AnnotationAssertion( "EFO:1001173"^^xsd:string) AnnotationAssertion( "MESH:D006962"^^xsd:string) AnnotationAssertion( "NCI:C113335"^^xsd:string) AnnotationAssertion( "secondary hyperparathyroidisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12466"^^xsd:string) AnnotationAssertion(rdfs:label "secondary hyperparathyroidism"^^xsd:string) SubClassOf( ) # Class: (blood coagulation disease) AnnotationAssertion(Annotation( "https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx"^^xsd:string) "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO)"^^xsd:string) AnnotationAssertion( "DOID:2212"^^xsd:string) AnnotationAssertion( "EFO:0009314"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.9"^^xsd:string) AnnotationAssertion( "ICD9CM:286"^^xsd:string) AnnotationAssertion( "MESH:D001778"^^xsd:string) AnnotationAssertion( "NCI:C2902"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF COAGULATION"^^xsd:string) AnnotationAssertion( "blood coagulation disorder"^^xsd:string) AnnotationAssertion( "blood coagulation disorders"^^xsd:string) AnnotationAssertion( "postpartum coagulation defect"^^xsd:string) AnnotationAssertion( "postpartum coagulation defect with delivery"^^xsd:string) AnnotationAssertion( "protein Z deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FIBRINOGEN MILANO XII, DIGENIC"^^xsd:string) AnnotationAssertion( "DOID:1247"^^xsd:string) AnnotationAssertion(rdfs:label "blood coagulation disease"^^xsd:string) SubClassOf( ) # Class: (capillariasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Capillariasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B81.1"^^xsd:string) AnnotationAssertion( "ICD9CM:127.5"^^xsd:string) AnnotationAssertion( "capillaria infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12474"^^xsd:string) AnnotationAssertion(rdfs:label "capillariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pes anserinus tendinitis or bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:726.61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12475"^^xsd:string) AnnotationAssertion(rdfs:label "pes anserinus tendinitis or bursitis"^^xsd:string) SubClassOf( ) # Class: (ocular hyperemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "hyperemia eye"^^xsd:string) AnnotationAssertion( "hyperemia of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1248"^^xsd:string) AnnotationAssertion(rdfs:label "ocular hyperemia"^^xsd:string) SubClassOf( ) # Class: (Vagus nerve disease) AnnotationAssertion(Annotation( "MESH:D020421"^^xsd:string) "Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen."^^xsd:string) AnnotationAssertion( "ICD10CM:G52.2"^^xsd:string) AnnotationAssertion( "ICD9CM:352.3"^^xsd:string) AnnotationAssertion( "MESH:D020421"^^xsd:string) AnnotationAssertion( "NCI:C27591"^^xsd:string) AnnotationAssertion( "RDO:0006815"^^xsd:string) AnnotationAssertion( "Cranial Nerve X Diseases"^^xsd:string) AnnotationAssertion( "Pneumogastric Nerve Disorder"^^xsd:string) AnnotationAssertion( "Pneumogastric Nerve Disorders"^^xsd:string) AnnotationAssertion( "Tenth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Vagus Nerve Disorder"^^xsd:string) AnnotationAssertion( "Vagus Nerve Disorders"^^xsd:string) AnnotationAssertion( "Vagus Nerve Motor Disorder"^^xsd:string) AnnotationAssertion( "Vagus Nerve Sensory Disorder"^^xsd:string) AnnotationAssertion( "Vagus Neuropathies"^^xsd:string) AnnotationAssertion( "Vagus Neuropathy"^^xsd:string) AnnotationAssertion( "Vagus nerve diseases"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:352.3"^^xsd:string) "disorder of pneumogastric [10th] nerve"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:352.3"^^xsd:string) "disorder of vagal nerve"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:73765005"^^xsd:string) "disorder of vagus nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12491"^^xsd:string) AnnotationAssertion(rdfs:label "Vagus nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vagina leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25672089"^^xsd:string) "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6373"^^xsd:string) AnnotationAssertion( "leiomyoma of vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:125"^^xsd:string) AnnotationAssertion(rdfs:label "vagina leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bell's palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bell%27s_palsy"^^xsd:string) "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007167"^^xsd:string) AnnotationAssertion( "GARD:5906"^^xsd:string) AnnotationAssertion( "ICD9CM:351.0"^^xsd:string) AnnotationAssertion( "MESH:D020330"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Facial Neuropathy"^^xsd:string) AnnotationAssertion( "Bell palsies"^^xsd:string) AnnotationAssertion( "Bell palsy"^^xsd:string) AnnotationAssertion( "Bell's (facial) palsy"^^xsd:string) AnnotationAssertion( "Bell's Palsies"^^xsd:string) AnnotationAssertion( "Bells Palsy"^^xsd:string) AnnotationAssertion( "Herpetic Facial Paralyses"^^xsd:string) AnnotationAssertion( "Herpetic Facial Paralysis"^^xsd:string) AnnotationAssertion( "acute idiopathic facial neuropathy"^^xsd:string) AnnotationAssertion( "idiopathic facial paralyses"^^xsd:string) AnnotationAssertion( "idiopathic facial paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12506"^^xsd:string) AnnotationAssertion(rdfs:label "Bell's palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tuberculous epididymitis) AnnotationAssertion(Annotation( "http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html"^^xsd:string) "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:016.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1251"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous epididymitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinal ischemia) AnnotationAssertion(Annotation( "http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome"^^xsd:string) "An ischemia that is characterized by restriction in blood supply to the retina. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.82"^^xsd:string) AnnotationAssertion( "ICD9CM:362.84"^^xsd:string) AnnotationAssertion( "RDO:9000523"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12510"^^xsd:string) AnnotationAssertion(rdfs:label "retinal ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinal perforation) AnnotationAssertion( "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes."^^xsd:string) AnnotationAssertion( "RDO:0006479"^^xsd:string) AnnotationAssertion( "EFO:0010698"^^xsd:string) AnnotationAssertion( "MESH:D012167"^^xsd:string) AnnotationAssertion( "NCI:C50732"^^xsd:string) AnnotationAssertion( "Retinal Break"^^xsd:string) AnnotationAssertion( "Retinal Dialyse"^^xsd:string) AnnotationAssertion( "Retinal Dialyses"^^xsd:string) AnnotationAssertion( "Retinal Hole"^^xsd:string) AnnotationAssertion( "Retinal Holes"^^xsd:string) AnnotationAssertion( "Retinal Perforations"^^xsd:string) AnnotationAssertion( "Retinal Tear"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:232003005"^^xsd:string) "Retinal dialysis"^^xsd:string) AnnotationAssertion( "retinal breaks"^^xsd:string) AnnotationAssertion( "retinal tears"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12514"^^xsd:string) AnnotationAssertion(rdfs:label "retinal perforation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichuriasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trichuriasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007524"^^xsd:string) AnnotationAssertion( "GARD:10720"^^xsd:string) AnnotationAssertion( "MESH:D014257"^^xsd:string) AnnotationAssertion( "NCI:C128399"^^xsd:string) AnnotationAssertion( "Trichocephaliasis"^^xsd:string) AnnotationAssertion( "Trichuriases"^^xsd:string) AnnotationAssertion( "Trichuriasis infection"^^xsd:string) AnnotationAssertion( "infection by Trichuris trichura"^^xsd:string) AnnotationAssertion( "trichocephaliases"^^xsd:string) AnnotationAssertion( "trichuris trichiura infection"^^xsd:string) AnnotationAssertion( "whipworm disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1252"^^xsd:string) AnnotationAssertion(rdfs:label "trichuriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bagassosis) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medical/bagassosis"^^xsd:string) "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.1"^^xsd:string) AnnotationAssertion( "ICD9CM:495.1"^^xsd:string) AnnotationAssertion( "NCI:C34409"^^xsd:string) AnnotationAssertion( "sugar cane worker pneumonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12522"^^xsd:string) AnnotationAssertion(rdfs:label "bagassosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plantar nerve lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G57.6"^^xsd:string) AnnotationAssertion( "ICD9CM:355.6"^^xsd:string) AnnotationAssertion( "lesion of plantar nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12524"^^xsd:string) AnnotationAssertion(rdfs:label "plantar nerve lesion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tarsal tunnel syndrome) AnnotationAssertion(Annotation( "MESH:D013641"^^xsd:string) "Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)"^^xsd:string) AnnotationAssertion( "EFO:1001208"^^xsd:string) AnnotationAssertion( "GARD:7733"^^xsd:string) AnnotationAssertion( "ICD10CM:G57.5"^^xsd:string) AnnotationAssertion( "ICD9CM:355.5"^^xsd:string) AnnotationAssertion( "MESH:D013641"^^xsd:string) AnnotationAssertion( "NCI:C85183"^^xsd:string) AnnotationAssertion( "RDO:0006673"^^xsd:string) AnnotationAssertion( "Posterior Tibial Nerve Neuralgia"^^xsd:string) AnnotationAssertion( "Tarsal Tunnel Entrapment Neuropathy"^^xsd:string) AnnotationAssertion( "Tarsal Tunnel Syndromes"^^xsd:string) AnnotationAssertion( "Tarsal Tunnel Tibial Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12526"^^xsd:string) AnnotationAssertion(rdfs:label "tarsal tunnel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common peroneal nerve lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G57.3"^^xsd:string) AnnotationAssertion( "ICD9CM:355.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12527"^^xsd:string) AnnotationAssertion(rdfs:label "common peroneal nerve lesion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lesion of sciatic nerve) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G57.0"^^xsd:string) AnnotationAssertion( "ICD9CM:355.0"^^xsd:string) AnnotationAssertion( "sciatic nerve lesion"^^xsd:string) AnnotationAssertion( "sciatic nerve lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12528"^^xsd:string) AnnotationAssertion(rdfs:label "lesion of sciatic nerve"^^xsd:string) SubClassOf( ) # Class: (tibial nerve palsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12529"^^xsd:string) AnnotationAssertion(rdfs:label "tibial nerve palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (von Willebrand's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Von_Willebrand_disease"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/von-willebrand-disease"^^xsd:string) "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003910"^^xsd:string) AnnotationAssertion( "GARD:7867"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.0"^^xsd:string) AnnotationAssertion( "ICD9CM:286.4"^^xsd:string) AnnotationAssertion( "MESH:D014842"^^xsd:string) AnnotationAssertion( "MONDO:0019565"^^xsd:string) AnnotationAssertion( "NCI:C68677"^^xsd:string) AnnotationAssertion( "Angiohemophilia"^^xsd:string) AnnotationAssertion( "HEREDITARY VON WILLEBRAND DISEASE"^^xsd:string) AnnotationAssertion( "Vascular Hemophilia"^^xsd:string) AnnotationAssertion( "Vascular Hemophilias"^^xsd:string) AnnotationAssertion( "Vascular Pseudohemophilia"^^xsd:string) AnnotationAssertion( "Vascular Pseudohemophilias"^^xsd:string) AnnotationAssertion( "Von Willebrand Disorder"^^xsd:string) AnnotationAssertion( "angiohemophilias"^^xsd:string) AnnotationAssertion( "von Willebrand Disease"^^xsd:string) AnnotationAssertion( "von Willebrand Disease, Recessive Form"^^xsd:string) AnnotationAssertion( "von Willebrand diseases"^^xsd:string) AnnotationAssertion( "von Willebrand's Diseases"^^xsd:string) AnnotationAssertion( "von Willebrand's factor deficiency"^^xsd:string) AnnotationAssertion( "von Willebrand's-Jurgens' disease"^^xsd:string) AnnotationAssertion( "von Willebrand-Jrgens disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12531"^^xsd:string) AnnotationAssertion(rdfs:label "von Willebrand's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypermobility of coccyx) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:724.71"^^xsd:string) AnnotationAssertion( "RDO:9003750"^^xsd:string) AnnotationAssertion( "coccygeal hypermobility syndrome"^^xsd:string) AnnotationAssertion( "hypermobility of the coccyx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12537"^^xsd:string) AnnotationAssertion(rdfs:label "hypermobility of coccyx"^^xsd:string) SubClassOf( ) # Class: (trichostrongylosis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm"^^xsd:string) "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007523"^^xsd:string) AnnotationAssertion( "ICD10CM:B81.2"^^xsd:string) AnnotationAssertion( "ICD9CM:127.6"^^xsd:string) AnnotationAssertion( "MESH:D014253"^^xsd:string) AnnotationAssertion( "Trichostrongyloses"^^xsd:string) AnnotationAssertion( "infection by Trichostrongylus"^^xsd:string) AnnotationAssertion( "infection by Trichostrongylus species"^^xsd:string) AnnotationAssertion( "trichostrongyliasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1254"^^xsd:string) AnnotationAssertion(rdfs:label "trichostrongylosis"^^xsd:string) SubClassOf( ) # Class: (atrophic nonflaccid tympanic membrane) AnnotationAssertion( "ICD10CM:H73.82"^^xsd:string) AnnotationAssertion( "ICD9CM:384.82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12546"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic nonflaccid tympanic membrane"^^xsd:string) SubClassOf( ) # Class: (hepatitis A) AnnotationAssertion(Annotation( "http://www.cdc.gov/hepatitis/HAV/index.htm"^^xsd:string) Annotation( "http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string) "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007305"^^xsd:string) AnnotationAssertion( "MESH:D006506"^^xsd:string) AnnotationAssertion( "NCI:C3096"^^xsd:string) AnnotationAssertion( "Infectious Hepatitides"^^xsd:string) AnnotationAssertion( "Infectious Hepatitis"^^xsd:string) AnnotationAssertion( "viral hepatitis, type A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Viral hepatitis A"^^xsd:string) AnnotationAssertion( "DOID:12549"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trichostrongyloidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Strongylida"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007522"^^xsd:string) AnnotationAssertion( "MESH:D014252"^^xsd:string) AnnotationAssertion( "trichostrongyloidiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1255"^^xsd:string) AnnotationAssertion(rdfs:label "trichostrongyloidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic coma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K72.91"^^xsd:string) AnnotationAssertion( "RDO:9004030"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:572.2"^^xsd:string) "Hepatocerebral intoxication"^^xsd:string) AnnotationAssertion( "hepatic comas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12550"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic coma"^^xsd:string) SubClassOf( ) # Class: (hemolytic-uremic syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1367/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15728781"^^xsd:string) "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6588"^^xsd:string) AnnotationAssertion( "ICD10CM:D59.3"^^xsd:string) AnnotationAssertion( "ICD9CM:283.11"^^xsd:string) AnnotationAssertion( "MESH:D006463"^^xsd:string) AnnotationAssertion( "MIM:PS235400"^^xsd:string) AnnotationAssertion( "NCI:C75545"^^xsd:string) AnnotationAssertion( "Gasser syndrome"^^xsd:string) AnnotationAssertion( "Gasser's syndrome"^^xsd:string) AnnotationAssertion( "Gassers Syndrome"^^xsd:string) AnnotationAssertion( "haemolytic-uraemic syndrome"^^xsd:string) AnnotationAssertion( "typical hemolytic uremic syndrome"^^xsd:string) AnnotationAssertion( "familial hemolytic uremic syndrome"^^xsd:string) AnnotationAssertion( "sporadic hemolytic uremic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12554"^^xsd:string) AnnotationAssertion(rdfs:label "hemolytic-uremic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute kidney tubular necrosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/"^^xsd:string) "An acute kidney failure that is characterized by necrosis of epithelial tubule cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000794"^^xsd:string) AnnotationAssertion( "ICD10CM:N17.0"^^xsd:string) AnnotationAssertion( "MESH:D007683"^^xsd:string) AnnotationAssertion( "NCI:C34749"^^xsd:string) AnnotationAssertion( "ATN - acute tubular necrosis"^^xsd:string) AnnotationAssertion( "Lower Nephron Nephroses"^^xsd:string) AnnotationAssertion( "Lower Nephron Nephrosis"^^xsd:string) AnnotationAssertion( "acute renal failure with lesion of tubular necrosis"^^xsd:string) AnnotationAssertion( "acute renal failure with tubular necrosis"^^xsd:string) AnnotationAssertion( "acute tubular necrosis"^^xsd:string) AnnotationAssertion( "acute tubule necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12556"^^xsd:string) AnnotationAssertion(rdfs:label "acute kidney tubular necrosis"^^xsd:string) SubClassOf( ) # Class: (Duane retraction syndrome) AnnotationAssertion(Annotation( "MESH:D004370"^^xsd:string) "A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."^^xsd:string) AnnotationAssertion( "ICD10CM:H50.81"^^xsd:string) AnnotationAssertion( "ICD9CM:378.71"^^xsd:string) AnnotationAssertion( "MESH:D004370"^^xsd:string) AnnotationAssertion( "MIM:PS126800"^^xsd:string) AnnotationAssertion( "MONDO:0007473"^^xsd:string) AnnotationAssertion( "NCI:C84678"^^xsd:string) AnnotationAssertion( "ORDO:233"^^xsd:string) AnnotationAssertion( "Acrorenoocular Syndrome"^^xsd:string) AnnotationAssertion( "Co Contractive Retraction Syndrome"^^xsd:string) AnnotationAssertion( "DRRS"^^xsd:string) AnnotationAssertion( "DRS"^^xsd:string) AnnotationAssertion( "DUS"^^xsd:string) AnnotationAssertion( "Duane Anomaly"^^xsd:string) AnnotationAssertion( "Duane Anomaly with Radial Abnormalities and Deafness"^^xsd:string) AnnotationAssertion( "Duane Syndrome"^^xsd:string) AnnotationAssertion( "Duane's Syndrome"^^xsd:string) AnnotationAssertion( "Duanes Syndrome"^^xsd:string) AnnotationAssertion( "Isolated Duane Anomaly"^^xsd:string) AnnotationAssertion( "Isolated Duane Retraction Syndrome"^^xsd:string) AnnotationAssertion( "Ocular Retraction Syndrome"^^xsd:string) AnnotationAssertion( "Ocular Retraction Syndromes"^^xsd:string) AnnotationAssertion( "Stilling Turk Duane syndrome"^^xsd:string) AnnotationAssertion( "Stilling-Turk-Duane syndromes"^^xsd:string) AnnotationAssertion( "acrorenoocular syndromes"^^xsd:string) AnnotationAssertion( "co-contractive retraction syndromes"^^xsd:string) AnnotationAssertion( "isolated Duane anomalies"^^xsd:string) AnnotationAssertion( "retraction syndrome"^^xsd:string) AnnotationAssertion( "retraction syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12557"^^xsd:string) AnnotationAssertion(rdfs:label "Duane retraction syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic progressive external ophthalmoplegia) AnnotationAssertion(Annotation( "MESH:D017246"^^xsd:string) "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)"^^xsd:string) AnnotationAssertion( "EFO:0002509"^^xsd:string) AnnotationAssertion( "GARD:4503"^^xsd:string) AnnotationAssertion( "ICD10CM:H49.4"^^xsd:string) AnnotationAssertion( "ICD9CM:378.72"^^xsd:string) AnnotationAssertion( "MESH:D017246"^^xsd:string) AnnotationAssertion( "MIM:PS157640"^^xsd:string) AnnotationAssertion( "CPEO"^^xsd:string) AnnotationAssertion( "Graefe Disease"^^xsd:string) AnnotationAssertion( "Graefe's Disease"^^xsd:string) AnnotationAssertion( "Mitochondrial Ocular Myopathy"^^xsd:string) AnnotationAssertion( "Ocular Muscular Dystrophies"^^xsd:string) AnnotationAssertion( "Ocular Muscular Dystrophy"^^xsd:string) AnnotationAssertion( "Ocular Myopathy of Von Graefe Fuchs"^^xsd:string) AnnotationAssertion( "Progressive external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "chronic progressive external ophthalmoplegia with myopathy, somatic"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia with mitochondrial DNA deletions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia, proximal myopathy, and sudden death"^^xsd:string) AnnotationAssertion( "DOID:12558"^^xsd:string) AnnotationAssertion(rdfs:label "chronic progressive external ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic juvenile osteoporosis) AnnotationAssertion(Annotation( "http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193"^^xsd:string) "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:259750"^^xsd:string) AnnotationAssertion( "RDO:0003582"^^xsd:string) AnnotationAssertion( "ICD9CM:733.02"^^xsd:string) AnnotationAssertion( "MESH:C537700"^^xsd:string) AnnotationAssertion( "childhood-onset primary osteoporosis"^^xsd:string) AnnotationAssertion( "idiopathic osteoporosis"^^xsd:string) AnnotationAssertion( "juvenile osteoporosis"^^xsd:string) AnnotationAssertion( "juvenile primary osteoporosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12559"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic juvenile osteoporosis"^^xsd:string) SubClassOf( ) # Class: (ulceration of vulva) AnnotationAssertion(Annotation( "https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/"^^xsd:string) "A vulvar disease that is characterized by the presence of ulcers. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N77.0"^^xsd:string) AnnotationAssertion( "ICD9CM:616.51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12566"^^xsd:string) AnnotationAssertion(rdfs:label "ulceration of vulva"^^xsd:string) SubClassOf( ) # Class: (dyscalculia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities"^^xsd:string) "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D060705"^^xsd:string) AnnotationAssertion( "Acalculia"^^xsd:string) AnnotationAssertion( "Acquired Dyscalculia"^^xsd:string) AnnotationAssertion( "Acquired Dyscalculias"^^xsd:string) AnnotationAssertion( "Developmental Dyscalculia"^^xsd:string) AnnotationAssertion( "Developmental Dyscalculias"^^xsd:string) AnnotationAssertion( "Dyscalculias"^^xsd:string) AnnotationAssertion( "Primary Dyscalculia"^^xsd:string) AnnotationAssertion( "Primary Dyscalculias"^^xsd:string) AnnotationAssertion( "Secondary Acalculia"^^xsd:string) AnnotationAssertion( "acalculias"^^xsd:string) AnnotationAssertion( "disorder of arithmetical skills"^^xsd:string) AnnotationAssertion( "mathematics disorder"^^xsd:string) AnnotationAssertion( "secondary acalculias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12568"^^xsd:string) AnnotationAssertion(rdfs:label "dyscalculia"^^xsd:string) SubClassOf( ) # Class: (phacolytic glaucoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30950286/"^^xsd:string) "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12570"^^xsd:string) AnnotationAssertion(rdfs:label "phacolytic glaucoma"^^xsd:string) SubClassOf( ) # Class: (phacogenic glaucoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Lens_Induced_Glaucomas"^^xsd:string) "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12571"^^xsd:string) AnnotationAssertion(rdfs:label "phacogenic glaucoma"^^xsd:string) SubClassOf( ) # Class: (neonatal thyrotoxicosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P72.1"^^xsd:string) AnnotationAssertion( "ICD9CM:775.3"^^xsd:string) AnnotationAssertion( "NCI:C114906"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12573"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal thyrotoxicosis"^^xsd:string) SubClassOf( ) # Class: (posterior uveitis) AnnotationAssertion(Annotation( "MESH:D015866"^^xsd:string) "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis."^^xsd:string) AnnotationAssertion( "EFO:1001119"^^xsd:string) AnnotationAssertion( "GARD:4457"^^xsd:string) AnnotationAssertion( "MESH:D015866"^^xsd:string) AnnotationAssertion( "NCI:C35111"^^xsd:string) AnnotationAssertion( "ORDO:280892"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12574"^^xsd:string) AnnotationAssertion(rdfs:label "posterior uveitis"^^xsd:string) SubClassOf( ) # Class: (urethral obstruction) AnnotationAssertion(Annotation( "MESH:D014524"^^xsd:string) "Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void."^^xsd:string) AnnotationAssertion( "MESH:D014524"^^xsd:string) AnnotationAssertion( "NCI:C79804"^^xsd:string) AnnotationAssertion( "obstruction of urethra"^^xsd:string) AnnotationAssertion( "urethral obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12577"^^xsd:string) AnnotationAssertion(rdfs:label "urethral obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cri-du-Chat syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Cri-du-Chat"^^xsd:string) "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123450"^^xsd:string) AnnotationAssertion( "GARD:6213"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.4"^^xsd:string) AnnotationAssertion( "ICD9CM:758.31"^^xsd:string) AnnotationAssertion( "MESH:D003410"^^xsd:string) AnnotationAssertion( "NCI:C34518"^^xsd:string) AnnotationAssertion( "5p Minus Syndrome"^^xsd:string) AnnotationAssertion( "5p Minus Syndromes"^^xsd:string) AnnotationAssertion( "5p Syndrome"^^xsd:string) AnnotationAssertion( "5p deletion syndrome"^^xsd:string) AnnotationAssertion( "5p deletion syndromes"^^xsd:string) AnnotationAssertion( "5p partial monosomy syndrome"^^xsd:string) AnnotationAssertion( "5p- Syndromes"^^xsd:string) AnnotationAssertion( "Cat Cry Syndrome"^^xsd:string) AnnotationAssertion( "Cat Cry Syndromes"^^xsd:string) AnnotationAssertion( "Chromosome 5 Short Arm Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 5p Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 5p- Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 5p- Syndromes"^^xsd:string) AnnotationAssertion( "Cri-du-Chat Syndromes"^^xsd:string) AnnotationAssertion( "crying cat syndrome"^^xsd:string) AnnotationAssertion( "crying cat syndromes"^^xsd:string) AnnotationAssertion( "deletion of short arm of chromosome 5 syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12580"^^xsd:string) AnnotationAssertion(rdfs:label "Cri-du-Chat syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (olecranon bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M70.2"^^xsd:string) AnnotationAssertion( "ICD9CM:726.33"^^xsd:string) AnnotationAssertion( "bursitis of elbow"^^xsd:string) AnnotationAssertion( "bursitis of elbow region"^^xsd:string) AnnotationAssertion( "capped elbow"^^xsd:string) AnnotationAssertion( "elbow bursitis"^^xsd:string) AnnotationAssertion( "miner's elbow"^^xsd:string) AnnotationAssertion( "miners' elbow"^^xsd:string) AnnotationAssertion( "shoe boil"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12581"^^xsd:string) AnnotationAssertion(rdfs:label "olecranon bursitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (velocardiofacial syndrome) AnnotationAssertion(Annotation( "https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19243607"^^xsd:string) "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.81"^^xsd:string) AnnotationAssertion( "ICD9CM:758.32"^^xsd:string) AnnotationAssertion( "MIM:192430"^^xsd:string) AnnotationAssertion( "CHROMOSOME 22q11.2 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Shprintzen VCF syndrome"^^xsd:string) AnnotationAssertion( "Shprintzen syndrome"^^xsd:string) AnnotationAssertion( "VCF syndrome"^^xsd:string) AnnotationAssertion( "VCF-velocardiofacial syndrome"^^xsd:string) AnnotationAssertion( "VCFS"^^xsd:string) AnnotationAssertion( "conotruncal anomaly face syndrome/velocardiofacial syndrome"^^xsd:string) AnnotationAssertion( "deletion 22q11.2 syndrome"^^xsd:string) AnnotationAssertion( "velo cardio facial syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12583"^^xsd:string) AnnotationAssertion(rdfs:label "velocardiofacial syndrome"^^xsd:string) SubClassOf( ) # Class: (Potter's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Potter_Syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Potter_sequence"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome"^^xsd:string) "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:4462"^^xsd:string) AnnotationAssertion( "ICD10CM:Q60.6"^^xsd:string) AnnotationAssertion( "NCI:C40435"^^xsd:string) AnnotationAssertion( "Potter sequence"^^xsd:string) AnnotationAssertion( "Potter syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12594"^^xsd:string) AnnotationAssertion(rdfs:label "Potter's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (parametritis) AnnotationAssertion(Annotation( "MESH:D010249"^^xsd:string) "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT."^^xsd:string) AnnotationAssertion( "EFO:1001084"^^xsd:string) AnnotationAssertion( "MESH:D010249"^^xsd:string) AnnotationAssertion( "parametritides"^^xsd:string) AnnotationAssertion( "pelvic cellulitides"^^xsd:string) AnnotationAssertion( "pelvic cellulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1260"^^xsd:string) AnnotationAssertion(rdfs:label "parametritis"^^xsd:string) SubClassOf( ) # Class: (acute leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_leukemia"^^xsd:string) Annotation( "http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec11/ch142/ch142b.html"^^xsd:string) "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000068"^^xsd:string) AnnotationAssertion( "ICD10CM:C95.00"^^xsd:string) AnnotationAssertion( "ICD9CM:208.0"^^xsd:string) AnnotationAssertion( "ICDO:9801/3"^^xsd:string) AnnotationAssertion( "NCI:C9300"^^xsd:string) AnnotationAssertion( "stem cell leukaemia"^^xsd:string) AnnotationAssertion( "stem cell leukemia"^^xsd:string) AnnotationAssertion( "MIXED PHENOTYPE ACUTE LEUKEMIA, T/MYELOID, NOT OTHERWISE SPECIFIED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12603"^^xsd:string) AnnotationAssertion(rdfs:label "acute leukemia"^^xsd:string) SubClassOf( ) # Class: (perineocele) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16442600"^^xsd:string) "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N81.81"^^xsd:string) AnnotationAssertion( "ICD9CM:618.05"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12637"^^xsd:string) AnnotationAssertion(rdfs:label "perineocele"^^xsd:string) SubClassOf( ) # Class: (hypertrophic pyloric stenosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pyloric_stenosis"^^xsd:string) "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004707"^^xsd:string) AnnotationAssertion( "ICD10CM:Q40.0"^^xsd:string) AnnotationAssertion( "ICD9CM:750.5"^^xsd:string) AnnotationAssertion( "MESH:D046248"^^xsd:string) AnnotationAssertion( "NCI:C98952"^^xsd:string) AnnotationAssertion( "MIM:PS179010"^^xsd:string) AnnotationAssertion( "congenital hypertrophic pyloric stenosis"^^xsd:string) AnnotationAssertion( "congenital or infantile stricture of pylorus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12638"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic pyloric stenosis"^^xsd:string) SubClassOf( ) # Class: (pyloric stenosis) AnnotationAssertion( "Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants."^^xsd:string) AnnotationAssertion( "EFO:0009626"^^xsd:string) AnnotationAssertion( "ICD10CM:K31.1"^^xsd:string) AnnotationAssertion( "MESH:D011707"^^xsd:string) AnnotationAssertion( "NCI:C34966"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12639"^^xsd:string) AnnotationAssertion(rdfs:label "pyloric stenosis"^^xsd:string) SubClassOf( ) # Class: (displacement of cardia through esophageal hiatus) AnnotationAssertion( "ICD10CM:Q40.1"^^xsd:string) AnnotationAssertion( "ICD9CM:750.6"^^xsd:string) AnnotationAssertion( "congenital hiatus hernia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12641"^^xsd:string) AnnotationAssertion(rdfs:label "displacement of cardia through esophageal hiatus"^^xsd:string) SubClassOf( ) # Class: (hiatus hernia) AnnotationAssertion(Annotation( "MESH:D006551"^^xsd:string) "STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus."^^xsd:string) AnnotationAssertion( "MIM:142400"^^xsd:string) AnnotationAssertion( "ICD10CM:K44"^^xsd:string) AnnotationAssertion( "MESH:D006551"^^xsd:string) AnnotationAssertion( "NCI:C98945"^^xsd:string) AnnotationAssertion( "Hiatal Hernias"^^xsd:string) AnnotationAssertion( "Hiatus Hernias"^^xsd:string) AnnotationAssertion( "Paraesophageal Hernia"^^xsd:string) AnnotationAssertion( "Paraesophageal Hernias"^^xsd:string) AnnotationAssertion( "Paraesophageal Hiatal Hernia"^^xsd:string) AnnotationAssertion( "Paraesophageal Hiatal Hernias"^^xsd:string) AnnotationAssertion( "Sliding Esophageal Hernia"^^xsd:string) AnnotationAssertion( "Sliding Esophageal Hernias"^^xsd:string) AnnotationAssertion( "diaphragmatic - hiatus -hernia"^^xsd:string) AnnotationAssertion( "esophageal hernia"^^xsd:string) AnnotationAssertion( "esophageal hernias"^^xsd:string) AnnotationAssertion( "hiatal hernia"^^xsd:string) AnnotationAssertion( "sliding hiatal hernia"^^xsd:string) AnnotationAssertion( "sliding hiatal hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12642"^^xsd:string) AnnotationAssertion(rdfs:label "hiatus hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vestibulocochlear nerve disease) AnnotationAssertion(Annotation( "MESH:D000160"^^xsd:string) "Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS."^^xsd:string) AnnotationAssertion( "ICD10CM:H93.3"^^xsd:string) AnnotationAssertion( "ICD9CM:388.5"^^xsd:string) AnnotationAssertion( "MESH:D000160"^^xsd:string) AnnotationAssertion( "MONDO:0001563"^^xsd:string) AnnotationAssertion( "NCI:C27207"^^xsd:string) AnnotationAssertion( "Acoustic Nerve Disease"^^xsd:string) AnnotationAssertion( "Acoustic Nerve Disorder"^^xsd:string) AnnotationAssertion( "Acoustic Nerve Disorders"^^xsd:string) AnnotationAssertion( "Cochlear Nerve Disease"^^xsd:string) AnnotationAssertion( "Cochlear Nerve Diseases"^^xsd:string) AnnotationAssertion( "Cochlear Nerve Disorder"^^xsd:string) AnnotationAssertion( "Cochlear Nerve Disorders"^^xsd:string) AnnotationAssertion( "Cochlear Neuritides"^^xsd:string) AnnotationAssertion( "Cochlear Neuritis"^^xsd:string) AnnotationAssertion( "Cranial Nerve VIII Diseases"^^xsd:string) AnnotationAssertion( "Cranial Nerve VIII Disorders"^^xsd:string) AnnotationAssertion( "Eighth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Disease"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Diseases"^^xsd:string) AnnotationAssertion( "acoustic nerve diseases"^^xsd:string) AnnotationAssertion( "vestibular nerve disorder"^^xsd:string) AnnotationAssertion( "vestibular nerve disorders"^^xsd:string) AnnotationAssertion( "vestibulocochlear nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12657"^^xsd:string) AnnotationAssertion(rdfs:label "vestibulocochlear nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tooth ankylosis) AnnotationAssertion(Annotation( "MESH:D020254"^^xsd:string) "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)"^^xsd:string) AnnotationAssertion( "MIM:157950"^^xsd:string) AnnotationAssertion( "EFO:1001215"^^xsd:string) AnnotationAssertion( "GARD:701"^^xsd:string) AnnotationAssertion( "ICD10CM:K03.5"^^xsd:string) AnnotationAssertion( "ICD9CM:521.6"^^xsd:string) AnnotationAssertion( "MESH:D020254"^^xsd:string) AnnotationAssertion( "MONDO:0008007"^^xsd:string) AnnotationAssertion( "Dental Ankylosis"^^xsd:string) AnnotationAssertion( "Dentoalveolar Ankyloses"^^xsd:string) AnnotationAssertion( "Dentoalveolar Ankylosis"^^xsd:string) AnnotationAssertion( "Teeth Ankyloses"^^xsd:string) AnnotationAssertion( "ankylosis of teeth"^^xsd:string) AnnotationAssertion( "ankylosis of tooth"^^xsd:string) AnnotationAssertion( "dental ankyloses"^^xsd:string) AnnotationAssertion( "teeth ankylosis"^^xsd:string) AnnotationAssertion( "tooth ankyloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12661"^^xsd:string) AnnotationAssertion(rdfs:label "tooth ankylosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (paracoccidioidomycosis) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/"^^xsd:string) "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007417"^^xsd:string) AnnotationAssertion( "GARD:7323"^^xsd:string) AnnotationAssertion( "ICD10CM:B41"^^xsd:string) AnnotationAssertion( "ICD9CM:116.1"^^xsd:string) AnnotationAssertion( "MESH:D010229"^^xsd:string) AnnotationAssertion( "NCI:C34891"^^xsd:string) AnnotationAssertion( "South American blastomycosis"^^xsd:string) AnnotationAssertion( "mucocutaneous-lymphangitic paracoccidioidomycosis"^^xsd:string) AnnotationAssertion( "paracoccidioidal mycosis"^^xsd:string) AnnotationAssertion( "paracoccidioidomycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12662"^^xsd:string) AnnotationAssertion(rdfs:label "paracoccidioidomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blastomycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blastomycosis"^^xsd:string) "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007174"^^xsd:string) AnnotationAssertion( "GARD:5931"^^xsd:string) AnnotationAssertion( "ICD10CM:B40"^^xsd:string) AnnotationAssertion( "ICD9CM:116.0"^^xsd:string) AnnotationAssertion( "MESH:D001759"^^xsd:string) AnnotationAssertion( "NCI:C34428"^^xsd:string) AnnotationAssertion( "Chicago disease"^^xsd:string) AnnotationAssertion( "Gilchrist Disease"^^xsd:string) AnnotationAssertion( "Gilchrist's Disease"^^xsd:string) AnnotationAssertion( "Gilchrists Disease"^^xsd:string) AnnotationAssertion( "North American blastomycosis"^^xsd:string) AnnotationAssertion( "blastomyces dermatitidis Infection"^^xsd:string) AnnotationAssertion( "blastomycoses"^^xsd:string) AnnotationAssertion( "blastomycotic infection"^^xsd:string) AnnotationAssertion( "infection by blastomyces dermatitidis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12663"^^xsd:string) AnnotationAssertion(rdfs:label "blastomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (binocular vision disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009535"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.30"^^xsd:string) AnnotationAssertion( "ICD9CM:368.30"^^xsd:string) AnnotationAssertion( "NCI:C34422"^^xsd:string) AnnotationAssertion( "simultaneous visual perception without fusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12667"^^xsd:string) AnnotationAssertion(rdfs:label "binocular vision disease"^^xsd:string) SubClassOf( ) # Class: (abnormal retinal correspondence) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.31"^^xsd:string) AnnotationAssertion( "ICD9CM:368.34"^^xsd:string) AnnotationAssertion( "RDO:9003359"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12668"^^xsd:string) AnnotationAssertion(rdfs:label "abnormal retinal correspondence"^^xsd:string) SubClassOf( ) # Class: (hypercalcemia) AnnotationAssertion(Annotation( "MESH:D006934"^^xsd:string) "Abnormally high level of calcium in the blood."^^xsd:string) AnnotationAssertion( "EFO:0005563"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.52"^^xsd:string) AnnotationAssertion( "ICD9CM:275.42"^^xsd:string) AnnotationAssertion( "MESH:D006934"^^xsd:string) AnnotationAssertion( "MIM:PS143880"^^xsd:string) AnnotationAssertion( "MONDO:0001566"^^xsd:string) AnnotationAssertion( "NCI:C3112"^^xsd:string) AnnotationAssertion( "Milk Alkali Syndrome"^^xsd:string) AnnotationAssertion( "hypercalcemia disease"^^xsd:string) AnnotationAssertion( "hypercalcemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12678"^^xsd:string) AnnotationAssertion(rdfs:label "hypercalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrocalcinosis) AnnotationAssertion(Annotation( "MESH:D009397"^^xsd:string) "A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY."^^xsd:string) AnnotationAssertion( "MESH:C531755"^^xsd:string) AnnotationAssertion( "RDO:0000168"^^xsd:string) AnnotationAssertion( "RDO:0000169"^^xsd:string) AnnotationAssertion( "GARD:7177"^^xsd:string) AnnotationAssertion( "MESH:D009397"^^xsd:string) AnnotationAssertion( "NCI:C84918"^^xsd:string) AnnotationAssertion( "Nephrocalcinoses"^^xsd:string) AnnotationAssertion( "kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12679"^^xsd:string) AnnotationAssertion(rdfs:label "nephrocalcinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pseudobulbar palsy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Corticobulbar_tract"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Pseudobulbar_palsy"^^xsd:string) "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001131"^^xsd:string) AnnotationAssertion( "ICD9CM:335.23"^^xsd:string) AnnotationAssertion( "MESH:D020828"^^xsd:string) AnnotationAssertion( "NCI:C129934"^^xsd:string) AnnotationAssertion( "Pseudobulbar Dysarthria"^^xsd:string) AnnotationAssertion( "Pseudobulbar Mutism"^^xsd:string) AnnotationAssertion( "Pseudobulbar Paralysis"^^xsd:string) AnnotationAssertion( "Pseudobulbar Pareses"^^xsd:string) AnnotationAssertion( "pseudobulbar dysarthrias"^^xsd:string) AnnotationAssertion( "pseudobulbar mutisms"^^xsd:string) AnnotationAssertion( "pseudobulbar palsies"^^xsd:string) AnnotationAssertion( "pseudobulbar paresis"^^xsd:string) AnnotationAssertion( "pseudobulbar syndrome"^^xsd:string) AnnotationAssertion( "pseudobulbar syndromes"^^xsd:string) AnnotationAssertion( "spastic bulbar palsies"^^xsd:string) AnnotationAssertion( "spastic bulbar palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12680"^^xsd:string) AnnotationAssertion(rdfs:label "pseudobulbar palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vestibular neuronitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vestibular_neuritis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16448876"^^xsd:string) "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007537"^^xsd:string) AnnotationAssertion( "ICD10CM:H81.2"^^xsd:string) AnnotationAssertion( "ICD9CM:386.12"^^xsd:string) AnnotationAssertion( "MESH:D020338"^^xsd:string) AnnotationAssertion( "Acute Peripheral Vestibulopathies"^^xsd:string) AnnotationAssertion( "Acute Peripheral Vestibulopathy"^^xsd:string) AnnotationAssertion( "Acute Vestibular Neuritides"^^xsd:string) AnnotationAssertion( "Acute Vestibular Neuritis"^^xsd:string) AnnotationAssertion( "Epidemic Neurolabyrinthitides"^^xsd:string) AnnotationAssertion( "Epidemic Neurolabyrinthitis"^^xsd:string) AnnotationAssertion( "Episodic Recurrent Vertigo"^^xsd:string) AnnotationAssertion( "Episodic Recurrent Vertigos"^^xsd:string) AnnotationAssertion( "Recurrent Vestibular Neuritides"^^xsd:string) AnnotationAssertion( "Recurrent Vestibular Neuritis"^^xsd:string) AnnotationAssertion( "Recurrent Vestibulopathies"^^xsd:string) AnnotationAssertion( "Recurrent Vestibulopathy"^^xsd:string) AnnotationAssertion( "Subacute Vestibular Neuritides"^^xsd:string) AnnotationAssertion( "Subacute Vestibular Neuritis"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Inflammation"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Inflammations"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Neuritides"^^xsd:string) AnnotationAssertion( "Vestibular Nerve Neuritis"^^xsd:string) AnnotationAssertion( "Vestibular Neuritides"^^xsd:string) AnnotationAssertion( "Vestibular Neuritis"^^xsd:string) AnnotationAssertion( "Vestibular Neuronitides"^^xsd:string) AnnotationAssertion( "Vestibular Neuropathies"^^xsd:string) AnnotationAssertion( "Vestibular Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12683"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular neuronitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed receptive-expressive language disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder"^^xsd:string) "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F80.2"^^xsd:string) AnnotationAssertion( "ICD9CM:315.32"^^xsd:string) AnnotationAssertion( "NCI:C92563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12685"^^xsd:string) AnnotationAssertion(rdfs:label "mixed receptive-expressive language disorder"^^xsd:string) SubClassOf( ) # Class: (acoustic neuroma) AnnotationAssertion(Annotation( "MESH:D009464"^^xsd:string) "A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)"^^xsd:string) AnnotationAssertion( "GARD:223"^^xsd:string) AnnotationAssertion( "MESH:D009464"^^xsd:string) AnnotationAssertion( "NCI:C3276"^^xsd:string) AnnotationAssertion( "Acoustic Neurilemoma"^^xsd:string) AnnotationAssertion( "Acoustic Neurilemomas"^^xsd:string) AnnotationAssertion( "Acoustic Neurinoma"^^xsd:string) AnnotationAssertion( "Acoustic Neurinomas"^^xsd:string) AnnotationAssertion( "Acoustic Neuromas"^^xsd:string) AnnotationAssertion( "Acoustic Schwannoma"^^xsd:string) AnnotationAssertion( "Acoustic Schwannomas"^^xsd:string) AnnotationAssertion( "Acoustic Tumor"^^xsd:string) AnnotationAssertion( "Acoustic Tumors"^^xsd:string) AnnotationAssertion( "Cerebellopontine Angle Acoustic Neuroma"^^xsd:string) AnnotationAssertion( "Melanocytic Vestibular Schwannoma"^^xsd:string) AnnotationAssertion( "Melanocytic Vestibular Schwannomas"^^xsd:string) AnnotationAssertion( "acoustic neurilemmoma"^^xsd:string) AnnotationAssertion( "acoustic neurilemmomas"^^xsd:string) AnnotationAssertion( "neurinoma of the acoustic nerve"^^xsd:string) AnnotationAssertion( "unilateral acoustic neuroma"^^xsd:string) AnnotationAssertion( "vestibular neurilemmoma"^^xsd:string) AnnotationAssertion( "vestibular schwannoma"^^xsd:string) AnnotationAssertion( "vestibular schwannomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12689"^^xsd:string) AnnotationAssertion(rdfs:label "acoustic neuroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (locked-in syndrome) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/locked-in-syndrome/"^^xsd:string) "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6919"^^xsd:string) AnnotationAssertion( "ICD10CM:G83.5"^^xsd:string) AnnotationAssertion( "ICD9CM:344.81"^^xsd:string) AnnotationAssertion( "MESH:D000080422"^^xsd:string) AnnotationAssertion( "cerebromedullospinal disconnection"^^xsd:string) AnnotationAssertion( "de-efferented state"^^xsd:string) AnnotationAssertion( "locked-in state"^^xsd:string) AnnotationAssertion( "locked-in syndromes"^^xsd:string) AnnotationAssertion( "ventral pontine syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12697"^^xsd:string) AnnotationAssertion(rdfs:label "locked-in syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gynecomastia) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793"^^xsd:string) "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N62"^^xsd:string) AnnotationAssertion( "MESH:D006177"^^xsd:string) AnnotationAssertion( "NCI:C3073"^^xsd:string) AnnotationAssertion( "Adolescent Gynecomastia"^^xsd:string) AnnotationAssertion( "Male Breast Enlargement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12698"^^xsd:string) AnnotationAssertion(rdfs:label "gynecomastia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leiomyoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Leiomyoma"^^xsd:string) "A cell type benign neoplasm that is a benign tumor of smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000050"^^xsd:string) AnnotationAssertion( "ICDO:8890/0"^^xsd:string) AnnotationAssertion( "MESH:D007889"^^xsd:string) AnnotationAssertion( "NCI:C3157"^^xsd:string) AnnotationAssertion( "NCI:C60426"^^xsd:string) AnnotationAssertion( "Fibroid"^^xsd:string) AnnotationAssertion( "Fibroid Tumor"^^xsd:string) AnnotationAssertion( "Fibroid Tumors"^^xsd:string) AnnotationAssertion( "Fibroid Uterus"^^xsd:string) AnnotationAssertion( "Fibromyoma"^^xsd:string) AnnotationAssertion( "Fibromyomas"^^xsd:string) AnnotationAssertion( "Leiomyomas"^^xsd:string) AnnotationAssertion( "Uterine Fibroma"^^xsd:string) AnnotationAssertion( "fibroids"^^xsd:string) AnnotationAssertion( "leiomyomatous neoplasm"^^xsd:string) AnnotationAssertion( "leiomyomatous tumor"^^xsd:string) AnnotationAssertion( "uterine fibromas"^^xsd:string) AnnotationAssertion( "renal leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:127"^^xsd:string) AnnotationAssertion(rdfs:label "leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary hemorrhagic telangiectasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1351/"^^xsd:string) "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6626"^^xsd:string) AnnotationAssertion( "ICD10CM:I78.0"^^xsd:string) AnnotationAssertion( "ICD9CM:448.0"^^xsd:string) AnnotationAssertion( "MESH:D013683"^^xsd:string) AnnotationAssertion( "MIM:PS187300"^^xsd:string) AnnotationAssertion( "NCI:C35064"^^xsd:string) AnnotationAssertion( "ORDO:774"^^xsd:string) AnnotationAssertion( "HHT"^^xsd:string) AnnotationAssertion( "ORW Disease"^^xsd:string) AnnotationAssertion( "Osler Rendu Weber disease"^^xsd:string) AnnotationAssertion( "Osler Rendu disease"^^xsd:string) AnnotationAssertion( "Osler Weber Rendu syndrome"^^xsd:string) AnnotationAssertion( "Osler disease"^^xsd:string) AnnotationAssertion( "Osler's disease"^^xsd:string) AnnotationAssertion( "Rendu Osler Weber"^^xsd:string) AnnotationAssertion( "Weber Osler"^^xsd:string) AnnotationAssertion( "hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber"^^xsd:string) AnnotationAssertion( "PULMONARY ARTERIOVENOUS MALFORMATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:1270"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary hemorrhagic telangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperprolactinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperprolactinemia"^^xsd:string) "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615555"^^xsd:string) AnnotationAssertion( "EFO:0007319"^^xsd:string) AnnotationAssertion( "ICD10CM:E22.1"^^xsd:string) AnnotationAssertion( "MESH:D006966"^^xsd:string) AnnotationAssertion( "NCI:C113168"^^xsd:string) AnnotationAssertion( "HPRL"^^xsd:string) AnnotationAssertion( "Hyperprolactinaemia"^^xsd:string) AnnotationAssertion( "Inappropriate Prolactin Secretion"^^xsd:string) AnnotationAssertion( "Inappropriate Prolactin Secretion Syndrome"^^xsd:string) AnnotationAssertion( "hyperprolactinemias"^^xsd:string) AnnotationAssertion( "pregnancy-related A-G syndrome"^^xsd:string) AnnotationAssertion( "prolactin hypersecretion syndrome"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPERPROLACTINEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12700"^^xsd:string) AnnotationAssertion(rdfs:label "hyperprolactinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ataxia telangiectasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia"^^xsd:string) "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:208900"^^xsd:string) AnnotationAssertion( "EFO:0004924"^^xsd:string) AnnotationAssertion( "GARD:5862"^^xsd:string) AnnotationAssertion( "MESH:D001260"^^xsd:string) AnnotationAssertion( "MONDO:0008840"^^xsd:string) AnnotationAssertion( "NCI:C2887"^^xsd:string) AnnotationAssertion( "AT"^^xsd:string) AnnotationAssertion( "AT1"^^xsd:string) AnnotationAssertion( "Boder-Sedgwick syndrome"^^xsd:string) AnnotationAssertion( "Louis Bar syndrome"^^xsd:string) AnnotationAssertion( "ataxia telangiectasia syndrome"^^xsd:string) AnnotationAssertion( "cerebello-oculocutaneous telangiectasia"^^xsd:string) AnnotationAssertion( "AT, COMPLEMENTATION GROUP C"^^xsd:string) AnnotationAssertion( "AT, COMPLEMENTATION GROUP D"^^xsd:string) AnnotationAssertion( "AT, COMPLEMENTATION GROUP E"^^xsd:string) AnnotationAssertion( "ATA"^^xsd:string) AnnotationAssertion( "ATAXIA-TELANGIECTASIA VARIANT"^^xsd:string) AnnotationAssertion( "ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "ATC"^^xsd:string) AnnotationAssertion( "ATD"^^xsd:string) AnnotationAssertion( "ATE"^^xsd:string) AnnotationAssertion( "LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12704"^^xsd:string) AnnotationAssertion(rdfs:label "ataxia telangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Friedreich ataxia) AnnotationAssertion(Annotation( "MESH:D005621"^^xsd:string) "An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)"^^xsd:string) AnnotationAssertion( "GARD:6468"^^xsd:string) AnnotationAssertion( "ICD10CM:G11.11"^^xsd:string) AnnotationAssertion( "ICD9CM:334.0"^^xsd:string) AnnotationAssertion( "MESH:D005621"^^xsd:string) AnnotationAssertion( "NCI:C84718"^^xsd:string) AnnotationAssertion( "Friedreich Hereditary Ataxia"^^xsd:string) AnnotationAssertion( "Friedreich Hereditary Spinal Ataxia"^^xsd:string) AnnotationAssertion( "Friedreich ataxias"^^xsd:string) AnnotationAssertion( "Friedreich disease"^^xsd:string) AnnotationAssertion( "Friedreich familial ataxia"^^xsd:string) AnnotationAssertion( "Friedreich spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "Friedreich's Ataxia"^^xsd:string) AnnotationAssertion( "Friedreich's Disease"^^xsd:string) AnnotationAssertion( "Friedreich's Familial Ataxia"^^xsd:string) AnnotationAssertion( "Friedreich's Hereditary Ataxia"^^xsd:string) AnnotationAssertion( "Friedreich's hereditary ataxias"^^xsd:string) AnnotationAssertion( "Friedreich's hereditary spinal ataxia"^^xsd:string) AnnotationAssertion( "Friedreich's tabes"^^xsd:string) AnnotationAssertion( "Friedreichs Familial Ataxia"^^xsd:string) AnnotationAssertion( "Friedreichs Hereditary Ataxia"^^xsd:string) AnnotationAssertion( "hereditary spinal scleroses"^^xsd:string) AnnotationAssertion( "hereditary spinal sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12705"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myoclonic cerebellar dyssynergia) AnnotationAssertion(Annotation( "MESH:D002527"^^xsd:string) "A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)"^^xsd:string) AnnotationAssertion( "MIM:213400"^^xsd:string) AnnotationAssertion( "EFO:1001053"^^xsd:string) AnnotationAssertion( "GARD:9256"^^xsd:string) AnnotationAssertion( "MESH:D002527"^^xsd:string) AnnotationAssertion( "CPD5"^^xsd:string) AnnotationAssertion( "Dentate Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Dentate Cerebellar Ataxias"^^xsd:string) AnnotationAssertion( "Dentate Cerebellar Atrophies"^^xsd:string) AnnotationAssertion( "Dentate Cerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Dentate Nucleus Syndrome, Ramsay Hunt"^^xsd:string) AnnotationAssertion( "Dyssynergia Cerebellaris Myoclonica"^^xsd:string) AnnotationAssertion( "Dyssynergia Cerebellaris Myoclonica Of Hunt"^^xsd:string) AnnotationAssertion( "Dyssynergia Cerebellaris Progressiva"^^xsd:string) AnnotationAssertion( "Myoclonic Cerebellar Dyssynergias"^^xsd:string) AnnotationAssertion( "Ramsay Hunt cerebellar syndrome"^^xsd:string) AnnotationAssertion( "Ramsay Hunt dentate syndrome"^^xsd:string) AnnotationAssertion( "cerebellar dyssynergia"^^xsd:string) AnnotationAssertion( "cerebellar dyssynergias"^^xsd:string) AnnotationAssertion( "cerebelloparenchymal disorder V"^^xsd:string) AnnotationAssertion( "myoclonus and ataxia"^^xsd:string) AnnotationAssertion( "progressive cerebellar tremor"^^xsd:string) AnnotationAssertion( "spinodentate atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12707"^^xsd:string) AnnotationAssertion(rdfs:label "myoclonic cerebellar dyssynergia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (capillary disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Capillary#Pathophysiology"^^xsd:string) "A vascular disease that is located_in the capillaries. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I78"^^xsd:string) AnnotationAssertion( "ICD9CM:448"^^xsd:string) AnnotationAssertion( "RDO:9002798"^^xsd:string) AnnotationAssertion( "disease of capillaries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1271"^^xsd:string) AnnotationAssertion(rdfs:label "capillary disease"^^xsd:string) SubClassOf( ) # Class: (black piedra) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Black_piedra"^^xsd:string) Annotation( "http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/"^^xsd:string) "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007171"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.3"^^xsd:string) AnnotationAssertion( "ICD9CM:111.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12711"^^xsd:string) AnnotationAssertion(rdfs:label "black piedra"^^xsd:string) SubClassOf( ) # Class: (nephronophthisis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/"^^xsd:string) "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-05-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:206"^^xsd:string) AnnotationAssertion( "ICD10CM:Q61.5"^^xsd:string) AnnotationAssertion( "MIM:PS256100"^^xsd:string) AnnotationAssertion( "NCI:C123200"^^xsd:string) AnnotationAssertion( "ORDO:655"^^xsd:string) AnnotationAssertion( "medullary cystic disease"^^xsd:string) AnnotationAssertion( "medullary cystic kidney"^^xsd:string) AnnotationAssertion( "Nephronophthisis 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12712"^^xsd:string) AnnotationAssertion(rdfs:label "nephronophthisis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ellis-Van Creveld syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10700184"^^xsd:string) "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:225500"^^xsd:string) AnnotationAssertion( "GARD:1301"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.6"^^xsd:string) AnnotationAssertion( "ICD9CM:756.55"^^xsd:string) AnnotationAssertion( "MESH:D004613"^^xsd:string) AnnotationAssertion( "NCI:C84684"^^xsd:string) AnnotationAssertion( "Chondroectodermal Dysplasia"^^xsd:string) AnnotationAssertion( "EVC"^^xsd:string) AnnotationAssertion( "Ellis Van Creveld dysplasia"^^xsd:string) AnnotationAssertion( "chondroectodermal dysplasias"^^xsd:string) AnnotationAssertion( "mesoectodermal dysplasia"^^xsd:string) AnnotationAssertion( "mesoectodermal dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12714"^^xsd:string) AnnotationAssertion(rdfs:label "Ellis-Van Creveld syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (newborn respiratory distress syndrome) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome"^^xsd:string) "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002636"^^xsd:string) AnnotationAssertion( "MESH:C538359"^^xsd:string) AnnotationAssertion( "OMIA:000101"^^xsd:string) AnnotationAssertion( "EFO:1000644"^^xsd:string) AnnotationAssertion( "ICD10CM:P22.0"^^xsd:string) AnnotationAssertion( "MESH:D012127"^^xsd:string) AnnotationAssertion( "HMD - hyaline membrane disease"^^xsd:string) AnnotationAssertion( "NEONATAL RESPIRATORY DISTRESS"^^xsd:string) AnnotationAssertion( "Neonatal Respiratory Distress Syndrome"^^xsd:string) AnnotationAssertion( "RDS - Infants"^^xsd:string) AnnotationAssertion( "infantile respiratory distress syndrome"^^xsd:string) AnnotationAssertion( "pulmonary hyaline membrane disease"^^xsd:string) AnnotationAssertion( "pulmonary hypoperfusion syndrome of newborn"^^xsd:string) AnnotationAssertion( "respiratory distress syndrome of newborn"^^xsd:string) AnnotationAssertion( "respiratory distress syndrome, infant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12716"^^xsd:string) AnnotationAssertion(rdfs:label "newborn respiratory distress syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic gonococcal salpingitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14846362"^^xsd:string) "A chronic salpingitis that is caused by gonorrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.37"^^xsd:string) AnnotationAssertion( "gonococcal salpingitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12718"^^xsd:string) AnnotationAssertion(rdfs:label "chronic gonococcal salpingitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (telangiectasis) AnnotationAssertion(Annotation( "MESH:D013684"^^xsd:string) "Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."^^xsd:string) AnnotationAssertion( "MESH:D013684"^^xsd:string) AnnotationAssertion( "NCI:C28194"^^xsd:string) AnnotationAssertion( "Telangiectases"^^xsd:string) AnnotationAssertion( "spider vein"^^xsd:string) AnnotationAssertion( "spider veins"^^xsd:string) AnnotationAssertion( "telangiectasia"^^xsd:string) AnnotationAssertion( "telangiectasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1272"^^xsd:string) AnnotationAssertion(rdfs:label "telangiectasis"^^xsd:string) SubClassOf( ) # Class: (cerebral atherosclerosis) AnnotationAssertion( "EFO:1000860"^^xsd:string) AnnotationAssertion( "ICD10CM:I67.2"^^xsd:string) AnnotationAssertion( "ICD9CM:437.0"^^xsd:string) AnnotationAssertion( "NCI:C34459"^^xsd:string) AnnotationAssertion( "cerebral atheroscleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12720"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral atherosclerosis"^^xsd:string) SubClassOf( ) # Class: (multiple epiphyseal dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10756"^^xsd:string) AnnotationAssertion( "ICD9CM:756.56"^^xsd:string) AnnotationAssertion( "MIM:PS132400"^^xsd:string) AnnotationAssertion( "ORDO:251"^^xsd:string) AnnotationAssertion( "RDO:9002946"^^xsd:string) AnnotationAssertion( "polyepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia, dominant"^^xsd:string) AnnotationAssertion( "DOID:12721"^^xsd:string) AnnotationAssertion(rdfs:label "multiple epiphyseal dysplasia"^^xsd:string) SubClassOf( ) # Class: (respiratory syncytial virus infectious disease) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g"^^xsd:string) "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001413"^^xsd:string) AnnotationAssertion( "MESH:D018357"^^xsd:string) AnnotationAssertion( "NCI:C3354"^^xsd:string) AnnotationAssertion( "RSV"^^xsd:string) AnnotationAssertion( "RSV infection"^^xsd:string) AnnotationAssertion( "RSV infectious disease"^^xsd:string) AnnotationAssertion( "respiratory syncytial virus"^^xsd:string) AnnotationAssertion( "respiratory syncytial virus infection"^^xsd:string) AnnotationAssertion( "respiratory syncytial virus infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1273"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory syncytial virus infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pars planitis) AnnotationAssertion(Annotation( "MESH:D015868"^^xsd:string) "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata."^^xsd:string) AnnotationAssertion( "MIM:606177"^^xsd:string) AnnotationAssertion( "EFO:1001088"^^xsd:string) AnnotationAssertion( "GARD:7339"^^xsd:string) AnnotationAssertion( "ICD10CM:H30.2"^^xsd:string) AnnotationAssertion( "ICD9CM:363.21"^^xsd:string) AnnotationAssertion( "MESH:D015868"^^xsd:string) AnnotationAssertion( "NCI:C34903"^^xsd:string) AnnotationAssertion( "posterior cyclitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12731"^^xsd:string) AnnotationAssertion(rdfs:label "pars planitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intermediate uveitis) AnnotationAssertion(Annotation( "MESH:D015867"^^xsd:string) "Inflammation of the pars plana, ciliary body, and adjacent structures."^^xsd:string) AnnotationAssertion( "EFO:1000986"^^xsd:string) AnnotationAssertion( "MESH:D015867"^^xsd:string) AnnotationAssertion( "NCI:C35110"^^xsd:string) AnnotationAssertion( "chronic cyclitis"^^xsd:string) AnnotationAssertion( "peripheral uveoretinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12732"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate uveitis"^^xsd:string) SubClassOf( ) # Class: (hypercementosis) AnnotationAssertion(Annotation( "MESH:D006936"^^xsd:string) "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "RDO:0005831"^^xsd:string) AnnotationAssertion( "EFO:1000970"^^xsd:string) AnnotationAssertion( "ICD10CM:K03.4"^^xsd:string) AnnotationAssertion( "ICD9CM:521.5"^^xsd:string) AnnotationAssertion( "MESH:D006936"^^xsd:string) AnnotationAssertion( "Hypercementoses"^^xsd:string) AnnotationAssertion( "cementation hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12733"^^xsd:string) AnnotationAssertion(rdfs:label "hypercementosis"^^xsd:string) SubClassOf( ) # Class: (hernia of ovary and fallopian tube) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/"^^xsd:string) "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N83.4"^^xsd:string) AnnotationAssertion( "ICD10CM:N83.40"^^xsd:string) AnnotationAssertion( "ICD9CM:620.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12735"^^xsd:string) AnnotationAssertion(rdfs:label "hernia of ovary and fallopian tube"^^xsd:string) SubClassOf( ) # Class: (cyclosporiasis) AnnotationAssertion(Annotation( "https://www.cdc.gov/parasites/cyclosporiasis/index.html"^^xsd:string) "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007230"^^xsd:string) AnnotationAssertion( "GARD:9528"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.4"^^xsd:string) AnnotationAssertion( "ICD9CM:007.5"^^xsd:string) AnnotationAssertion( "MESH:D021866"^^xsd:string) AnnotationAssertion( "NCI:C128409"^^xsd:string) AnnotationAssertion( "cyclosporiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12750"^^xsd:string) AnnotationAssertion(rdfs:label "cyclosporiasis"^^xsd:string) SubClassOf( ) # Class: (corneal staphyloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.72"^^xsd:string) AnnotationAssertion( "ICD9CM:371.73"^^xsd:string) AnnotationAssertion( "RDO:9003434"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12753"^^xsd:string) AnnotationAssertion(rdfs:label "corneal staphyloma"^^xsd:string) SubClassOf( ) # Class: (lacrimal duct cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:190.7"^^xsd:string) AnnotationAssertion( "NCI:C3567"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lacrimal duct"^^xsd:string) AnnotationAssertion( "malignant tumor of lacrimal duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12756"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal duct cancer"^^xsd:string) SubClassOf( ) # Class: (choroid cancer) AnnotationAssertion( "EFO:1000866"^^xsd:string) AnnotationAssertion( "ICD10CM:C69.3"^^xsd:string) AnnotationAssertion( "ICD9CM:190.6"^^xsd:string) AnnotationAssertion( "NCI:C2949"^^xsd:string) AnnotationAssertion( "NCI:C3566"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363466008"^^xsd:string) "malignant tumor of choroid"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3566"^^xsd:string) "malignant tumor of the choroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12759"^^xsd:string) AnnotationAssertion(rdfs:label "choroid cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tolosa-Hunt syndrome) AnnotationAssertion(Annotation( "MESH:D020333"^^xsd:string) "An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271)"^^xsd:string) AnnotationAssertion( "GARD:7777"^^xsd:string) AnnotationAssertion( "MESH:D020333"^^xsd:string) AnnotationAssertion( "NCI:C85193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1278"^^xsd:string) AnnotationAssertion(rdfs:label "Tolosa-Hunt syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cicatricial ectropion) AnnotationAssertion( "ICD9CM:374.14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12782"^^xsd:string) AnnotationAssertion(rdfs:label "cicatricial ectropion"^^xsd:string) SubClassOf( ) # Class: (migraine without aura) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Migraine"^^xsd:string) "A migraine that is characterized by migraine headaches that are not accompanied by an aura. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607501"^^xsd:string) AnnotationAssertion( "EFO:0005296"^^xsd:string) AnnotationAssertion( "ICD10CM:G43.0"^^xsd:string) AnnotationAssertion( "ICD9CM:346.1"^^xsd:string) AnnotationAssertion( "MESH:D020326"^^xsd:string) AnnotationAssertion( "MONDO:0011847"^^xsd:string) AnnotationAssertion( "MONDO:0100431"^^xsd:string) AnnotationAssertion( "NCI:C117004"^^xsd:string) AnnotationAssertion( "Common Migraine"^^xsd:string) AnnotationAssertion( "Common Migraines"^^xsd:string) AnnotationAssertion( "MGOA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MGR4"^^xsd:string) AnnotationAssertion( "migraine without aura, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "DOID:12783"^^xsd:string) AnnotationAssertion(rdfs:label "migraine without aura"^^xsd:string) SubClassOf( ) # Class: (diabetic polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:357.2"^^xsd:string) AnnotationAssertion( "diabetes mellitus with polyneuropathy"^^xsd:string) AnnotationAssertion( "polyneuropathy in diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12785"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (ocular motility disease) AnnotationAssertion( "Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"^^xsd:string) AnnotationAssertion( "EFO:1001990"^^xsd:string) AnnotationAssertion( "GARD:7061"^^xsd:string) AnnotationAssertion( "GARD:7237"^^xsd:string) AnnotationAssertion( "ICD9CM:378.9"^^xsd:string) AnnotationAssertion( "MESH:D015835"^^xsd:string) AnnotationAssertion( "Convergence Excess"^^xsd:string) AnnotationAssertion( "Convergence Excesses"^^xsd:string) AnnotationAssertion( "Convergence Insufficiencies"^^xsd:string) AnnotationAssertion( "Convergence Insufficiency"^^xsd:string) AnnotationAssertion( "Cyclophoria"^^xsd:string) AnnotationAssertion( "Cyclophorias"^^xsd:string) AnnotationAssertion( "Eye Motility Disorder"^^xsd:string) AnnotationAssertion( "Eye Motility Disorders"^^xsd:string) AnnotationAssertion( "Eye Movement Disorder"^^xsd:string) AnnotationAssertion( "Eye Movement Disorders"^^xsd:string) AnnotationAssertion( "Ocular Motility Disorder"^^xsd:string) AnnotationAssertion( "Ocular Motility Disorders"^^xsd:string) AnnotationAssertion( "Ocular Torticollis"^^xsd:string) AnnotationAssertion( "Opsoclonus"^^xsd:string) AnnotationAssertion( "Parinaud Syndrome"^^xsd:string) AnnotationAssertion( "Parinaud's Syndrome"^^xsd:string) AnnotationAssertion( "Parinauds Syndrome"^^xsd:string) AnnotationAssertion( "Paroxysmal Ocular Dyskinesia"^^xsd:string) AnnotationAssertion( "Paroxysmal Ocular Dyskinesias"^^xsd:string) AnnotationAssertion( "Pseudoophthalmoplegia"^^xsd:string) AnnotationAssertion( "Pseudoophthalmoplegias"^^xsd:string) AnnotationAssertion( "Skew Deviation"^^xsd:string) AnnotationAssertion( "Skew Deviations"^^xsd:string) AnnotationAssertion( "Smooth Pursuit Deficiencies"^^xsd:string) AnnotationAssertion( "conjugate gaze spasm"^^xsd:string) AnnotationAssertion( "conjugate gaze spasms"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:45030009"^^xsd:string) "disorder of eye movements"^^xsd:string) AnnotationAssertion( "smooth pursuit deficiency"^^xsd:string) AnnotationAssertion( "spasm of conjugate gaze"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1279"^^xsd:string) AnnotationAssertion(rdfs:label "ocular motility disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hallucinogen abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hallucinogen"^^xsd:string) "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F16.1"^^xsd:string) AnnotationAssertion( "ICD9CM:305.3"^^xsd:string) AnnotationAssertion( "hallucinogen use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12797"^^xsd:string) AnnotationAssertion(rdfs:label "hallucinogen abuse"^^xsd:string) SubClassOf( ) # Class: (mucopolysaccharidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucopolysaccharidosis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis"^^xsd:string) "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7065"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.3"^^xsd:string) AnnotationAssertion( "ICD9CM:277.5"^^xsd:string) AnnotationAssertion( "MESH:D009083"^^xsd:string) AnnotationAssertion( "MIM:PS607014"^^xsd:string) AnnotationAssertion( "NCI:C61259"^^xsd:string) AnnotationAssertion( "ORDO:79213"^^xsd:string) AnnotationAssertion( "mucopolysaccharidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IDUA pseudodeficiency"^^xsd:string) AnnotationAssertion( "DOID:12798"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hunter_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309900"^^xsd:string) AnnotationAssertion( "GARD:6675"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.1"^^xsd:string) AnnotationAssertion( "MESH:D016532"^^xsd:string) AnnotationAssertion( "NCI:C61260"^^xsd:string) AnnotationAssertion( "ORDO:580"^^xsd:string) AnnotationAssertion( "Hunter Syndrome"^^xsd:string) AnnotationAssertion( "Hunter Syndrome Gargoylism"^^xsd:string) AnnotationAssertion( "Hunter's syndrome"^^xsd:string) AnnotationAssertion( "Hunters syndrome"^^xsd:string) AnnotationAssertion( "I2S Deficiency"^^xsd:string) AnnotationAssertion( "IDS DEFICIENCY"^^xsd:string) AnnotationAssertion( "Iduronate 2 Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "Iduronate Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "MPS II"^^xsd:string) AnnotationAssertion( "MPS II - Hunter syndrome"^^xsd:string) AnnotationAssertion( "MPS2"^^xsd:string) AnnotationAssertion( "MUCOPOLYSACCHARIDOSIS, MPS-II"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 2"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type 2"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type II"^^xsd:string) AnnotationAssertion( "SIDS deficiency"^^xsd:string) AnnotationAssertion( "deficiency of iduronate-2-sulphatase"^^xsd:string) AnnotationAssertion( "sulfoiduronate sulfatase deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type II, mild form"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type II, severe form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12799"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis VI) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253200"^^xsd:string) AnnotationAssertion( "OMIA:000666"^^xsd:string) AnnotationAssertion( "GARD:7095"^^xsd:string) AnnotationAssertion( "MESH:D009087"^^xsd:string) AnnotationAssertion( "NCI:C61264"^^xsd:string) AnnotationAssertion( "ORDO:583"^^xsd:string) AnnotationAssertion( "ARSB deficiencies"^^xsd:string) AnnotationAssertion( "ARSB deficiency"^^xsd:string) AnnotationAssertion( "Arylsulfatase B Deficiency"^^xsd:string) AnnotationAssertion( "MPS VI"^^xsd:string) AnnotationAssertion( "MPS VI - Maroteaux-Lamy syndrome"^^xsd:string) AnnotationAssertion( "MPS6"^^xsd:string) AnnotationAssertion( "Maroteaux Lamy Syndrome"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 6"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis Type 6"^^xsd:string) AnnotationAssertion( "N-acetylgalactosamine-4-sulfatase deficiencies"^^xsd:string) AnnotationAssertion( "N-acetylgalactosamine-4-sulfatase deficiency"^^xsd:string) AnnotationAssertion( "arylsulfatase B deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of N-acetylgalactosamine-4-sulfatase"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VI"^^xsd:string) AnnotationAssertion( "polydystrophic dwarfism"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VI, intermediate"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VI, mild"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VI, severe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12800"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis VI"^^xsd:string) SubClassOf( ) # Class: (mucopolysaccharidosis III) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sanfilippo_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001309"^^xsd:string) AnnotationAssertion( "OMIA:001342"^^xsd:string) AnnotationAssertion( "MESH:D009084"^^xsd:string) AnnotationAssertion( "NCI:C61262"^^xsd:string) AnnotationAssertion( "NCI:C84897"^^xsd:string) AnnotationAssertion( "NCI:C84898"^^xsd:string) AnnotationAssertion( "ORDO:581"^^xsd:string) AnnotationAssertion( "Heparan Sulfate Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 3"^^xsd:string) AnnotationAssertion( "N Acetyl alpha D Glucosaminidase Deficiency"^^xsd:string) AnnotationAssertion( "N-acetyl-alpha-D-glucosaminidase deficiencies"^^xsd:string) AnnotationAssertion( "N-sulphoglucosamine sulphohydrolase deficiency"^^xsd:string) AnnotationAssertion( "NAGLU Deficiency"^^xsd:string) AnnotationAssertion( "NAGLU deficiencies"^^xsd:string) AnnotationAssertion( "Polydystrophic Oligophrenia"^^xsd:string) AnnotationAssertion( "Polydystrophic Oligophrenias"^^xsd:string) AnnotationAssertion( "SANFILIPPO DISEASE"^^xsd:string) AnnotationAssertion( "San Filippo Syndrome"^^xsd:string) AnnotationAssertion( "San Filippo's Syndrome"^^xsd:string) AnnotationAssertion( "San Filippos Syndrome"^^xsd:string) AnnotationAssertion( "Sanfilippo syndrome"^^xsd:string) AnnotationAssertion( "Sanfilippo syndromes"^^xsd:string) AnnotationAssertion( "Sanfilippo's Syndrome"^^xsd:string) AnnotationAssertion( "Sanfilippos Syndrome"^^xsd:string) AnnotationAssertion( "acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency"^^xsd:string) AnnotationAssertion( "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis, MPS-III"^^xsd:string) AnnotationAssertion( "sulfamidase deficiencies"^^xsd:string) AnnotationAssertion( "sulfamidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12801"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis III"^^xsd:string) SubClassOf( ) # Class: (mucopolysaccharidosis I) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000664"^^xsd:string) AnnotationAssertion( "GARD:10335"^^xsd:string) AnnotationAssertion( "MESH:D008059"^^xsd:string) AnnotationAssertion( "NCI:C85053"^^xsd:string) AnnotationAssertion( "Hurler Scheie Syndrome"^^xsd:string) AnnotationAssertion( "IDUA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Lipochondrodystrophies"^^xsd:string) AnnotationAssertion( "Lipochondrodystrophy"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 1"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:75610003"^^xsd:string) "Mucopolysaccharidosis, MPS-I"^^xsd:string) AnnotationAssertion( "alpha L Iduronidase Deficiency"^^xsd:string) AnnotationAssertion( "alpha-L-Iduronidase Deficiencies"^^xsd:string) AnnotationAssertion( "iduronidase deficiency disease"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type 1"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12802"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis I"^^xsd:string) SubClassOf( ) # Class: (Sly syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII"^^xsd:string) Annotation( "http://omim.org/entry/253220"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253220"^^xsd:string) AnnotationAssertion( "OMIA:000667"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.29"^^xsd:string) AnnotationAssertion( "MESH:D016538"^^xsd:string) AnnotationAssertion( "NCI:C84903"^^xsd:string) AnnotationAssertion( "GUSB Deficiency"^^xsd:string) AnnotationAssertion( "GUSB deficiencies"^^xsd:string) AnnotationAssertion( "MPS VII"^^xsd:string) AnnotationAssertion( "MPS VII - Sly syndrome"^^xsd:string) AnnotationAssertion( "MPS7"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 7"^^xsd:string) AnnotationAssertion( "Sly disease"^^xsd:string) AnnotationAssertion( "beta Glucuronidase Deficiency"^^xsd:string) AnnotationAssertion( "beta-glucuronidase deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of beta-glucuronidase"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis VII"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12803"^^xsd:string) AnnotationAssertion(rdfs:label "Sly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucopolysaccharidosis IV) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Morquio_syndrome"^^xsd:string) "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E76.219"^^xsd:string) AnnotationAssertion( "MESH:D009085"^^xsd:string) AnnotationAssertion( "NCI:C61263"^^xsd:string) AnnotationAssertion( "Eccentroosteochondrodysplasia"^^xsd:string) AnnotationAssertion( "Eccentroosteochondrodysplasias"^^xsd:string) AnnotationAssertion( "Galactosamine 6 Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "Galactosamine-6-Sulfatase Deficiencies"^^xsd:string) AnnotationAssertion( "Morquio Disease"^^xsd:string) AnnotationAssertion( "Morquio Syndrome"^^xsd:string) AnnotationAssertion( "Morquio Syndromes"^^xsd:string) AnnotationAssertion( "Morquio's Disease"^^xsd:string) AnnotationAssertion( "Morquio's Syndrome"^^xsd:string) AnnotationAssertion( "Morquios Disease"^^xsd:string) AnnotationAssertion( "Morquios Syndrome"^^xsd:string) AnnotationAssertion( "Mucopolysaccharidosis 4"^^xsd:string) AnnotationAssertion( "deficiency of N-acetylgalactosamine-6-sulphatase"^^xsd:string) AnnotationAssertion( "deficiency of chondroitinsulphatase"^^xsd:string) AnnotationAssertion( "eccentro osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "eccentro-osteochondrodysplasias"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type IV"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis, MPS-IV"^^xsd:string) AnnotationAssertion( "chondroosteodystrophy"^^xsd:string) AnnotationAssertion( "osteochondrodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12804"^^xsd:string) AnnotationAssertion(rdfs:label "mucopolysaccharidosis IV"^^xsd:string) SubClassOf( ) # Class: (chronic lacrimal gland enlargement) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.03"^^xsd:string) AnnotationAssertion( "ICD9CM:375.03"^^xsd:string) AnnotationAssertion( "chronic enlargement of lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12809"^^xsd:string) AnnotationAssertion(rdfs:label "chronic lacrimal gland enlargement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (enterocele) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8202302"^^xsd:string) "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020006"^^xsd:string) AnnotationAssertion( "ICD10CM:K46"^^xsd:string) AnnotationAssertion( "ICD9CM:618.6"^^xsd:string) AnnotationAssertion( "MESH:D006547"^^xsd:string) AnnotationAssertion( "hernia"^^xsd:string) AnnotationAssertion( "hernias"^^xsd:string) AnnotationAssertion( "vaginal enterocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1283"^^xsd:string) AnnotationAssertion(rdfs:label "enterocele"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (quadriplegia) AnnotationAssertion(Annotation( "MESH:D011782"^^xsd:string) "Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts."^^xsd:string) AnnotationAssertion( "EFO:0009684"^^xsd:string) AnnotationAssertion( "ICD10CM:G82.5"^^xsd:string) AnnotationAssertion( "ICD9CM:344.00"^^xsd:string) AnnotationAssertion( "MESH:D011782"^^xsd:string) AnnotationAssertion( "NCI:C50721"^^xsd:string) AnnotationAssertion( "Flaccid Quadriplegia"^^xsd:string) AnnotationAssertion( "Flaccid Tetraplegia"^^xsd:string) AnnotationAssertion( "Flaccid Tetraplegias"^^xsd:string) AnnotationAssertion( "Paralysis, Spinal, Quadriplegic"^^xsd:string) AnnotationAssertion( "Quadripareses"^^xsd:string) AnnotationAssertion( "Quadriparesis"^^xsd:string) AnnotationAssertion( "Quadriplegias"^^xsd:string) AnnotationAssertion( "Spastic Quadriplegia"^^xsd:string) AnnotationAssertion( "Spastic Quadriplegias"^^xsd:string) AnnotationAssertion( "Spastic Tetraplegia"^^xsd:string) AnnotationAssertion( "Spastic Tetraplegias"^^xsd:string) AnnotationAssertion( "Tetraplegia"^^xsd:string) AnnotationAssertion( "flaccid quadriplegias"^^xsd:string) AnnotationAssertion( "tetraplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12835"^^xsd:string) AnnotationAssertion(rdfs:label "quadriplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (senile entropion) AnnotationAssertion( "ICD9CM:374.01"^^xsd:string) AnnotationAssertion( "involutional entropion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12836"^^xsd:string) AnnotationAssertion(rdfs:label "senile entropion"^^xsd:string) SubClassOf( ) # Class: (thyroid crisis) AnnotationAssertion(Annotation( "MESH:D013958"^^xsd:string) "A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems."^^xsd:string) AnnotationAssertion( "EFO:1001212"^^xsd:string) AnnotationAssertion( "MESH:D013958"^^xsd:string) AnnotationAssertion( "NCI:C112836"^^xsd:string) AnnotationAssertion( "Thyroid Storm"^^xsd:string) AnnotationAssertion( "Thyrotoxic Crisis"^^xsd:string) AnnotationAssertion( "Thyrotoxic Storm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12837"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid crisis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prolapse of female genital organ) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2010/0501/p1111.html"^^xsd:string) "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:618.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1284"^^xsd:string) AnnotationAssertion(rdfs:label "prolapse of female genital organ"^^xsd:string) SubClassOf( ) # Class: (ancylostomiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ancylostomiasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007145"^^xsd:string) AnnotationAssertion( "GARD:9742"^^xsd:string) AnnotationAssertion( "ICD10CM:B76.0"^^xsd:string) AnnotationAssertion( "MESH:D000724"^^xsd:string) AnnotationAssertion( "NCI:C35805"^^xsd:string) AnnotationAssertion( "ancylostomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12841"^^xsd:string) AnnotationAssertion(rdfs:label "ancylostomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Guillain-Barre syndrome) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/gbs/gbs.htm"^^xsd:string) "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:139393"^^xsd:string) AnnotationAssertion( "EFO:0007292"^^xsd:string) AnnotationAssertion( "GARD:6554"^^xsd:string) AnnotationAssertion( "MESH:D020275"^^xsd:string) AnnotationAssertion( "NCI:C116345"^^xsd:string) AnnotationAssertion( "Acute Autoimmune Neuropathy"^^xsd:string) AnnotationAssertion( "Acute Infectious Polyneuritis"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Demyelinating Polyradiculoneuropathy"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Polyneuropathies"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Polyneuropathy"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Polyradiculoneuropathies"^^xsd:string) AnnotationAssertion( "Acute Inflammatory Polyradiculoneuropathy"^^xsd:string) AnnotationAssertion( "GBS"^^xsd:string) AnnotationAssertion( "Guillain-Barre Syndrome, Familial"^^xsd:string) AnnotationAssertion( "Guillain-Barré Syndrome"^^xsd:string) AnnotationAssertion( "Guillaine Barre Syndrome"^^xsd:string) AnnotationAssertion( "Inflammatory Polyneuropathy Acutes"^^xsd:string) AnnotationAssertion( "Landry Guillain Barre Syndrome"^^xsd:string) AnnotationAssertion( "acute autoimmune neuropathies"^^xsd:string) AnnotationAssertion( "acute infective polyneuritis"^^xsd:string) AnnotationAssertion( "acute inflammatory demyelinating polyradiculopathy"^^xsd:string) AnnotationAssertion( "acute postinfectious polyneuropathy"^^xsd:string) AnnotationAssertion( "infectious neuronitis"^^xsd:string) AnnotationAssertion( "post-infectious polyneuritis"^^xsd:string) AnnotationAssertion( "postinfectious polyneuritis"^^xsd:string) AnnotationAssertion( "AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC"^^xsd:string) AnnotationAssertion( "CIDP"^^xsd:string) AnnotationAssertion( "acute inflammatory demyelinating polyneuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12842"^^xsd:string) AnnotationAssertion(rdfs:label "Guillain-Barre syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autistic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autism"^^xsd:string) Annotation( "http://www.neurodevnet.ca"^^xsd:string) "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)"^^xsd:string) AnnotationAssertion( "MIM:209850"^^xsd:string) AnnotationAssertion( "MIM:300425"^^xsd:string) AnnotationAssertion( "MIM:300495"^^xsd:string) AnnotationAssertion( "MIM:300496"^^xsd:string) AnnotationAssertion( "MIM:300830"^^xsd:string) AnnotationAssertion( "MIM:300847"^^xsd:string) AnnotationAssertion( "MIM:300872"^^xsd:string) AnnotationAssertion( "MIM:607373"^^xsd:string) AnnotationAssertion( "MIM:608049"^^xsd:string) AnnotationAssertion( "MIM:608636"^^xsd:string) AnnotationAssertion( "MIM:609378"^^xsd:string) AnnotationAssertion( "MIM:610676"^^xsd:string) AnnotationAssertion( "MIM:610836"^^xsd:string) AnnotationAssertion( "MIM:610838"^^xsd:string) AnnotationAssertion( "MIM:610908"^^xsd:string) AnnotationAssertion( "MIM:611015"^^xsd:string) AnnotationAssertion( "MIM:611016"^^xsd:string) AnnotationAssertion( "MIM:612100"^^xsd:string) AnnotationAssertion( "MIM:613410"^^xsd:string) AnnotationAssertion( "MIM:613436"^^xsd:string) AnnotationAssertion( "MIM:615091"^^xsd:string) AnnotationAssertion( "MIM:618830"^^xsd:string) AnnotationAssertion( "AUTS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0003758"^^xsd:string) AnnotationAssertion( "ICD10CM:F84.0"^^xsd:string) AnnotationAssertion( "ICD9CM:299.0"^^xsd:string) AnnotationAssertion( "MESH:D001321"^^xsd:string) AnnotationAssertion( "MIM:PS209850"^^xsd:string) AnnotationAssertion( "NCI:C126692"^^xsd:string) AnnotationAssertion( "NCI:C97161"^^xsd:string) AnnotationAssertion( "ORDO:106"^^xsd:string) AnnotationAssertion( "AUTISM WITH OR WITHOUT SEIZURES"^^xsd:string) AnnotationAssertion( "AUTISTIC DISORDER OF CHILDHOOD ONSET"^^xsd:string) AnnotationAssertion( "CHROMOSOME 15q11-q13 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "CHROMOSOME Xp22 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Kanner syndrome"^^xsd:string) AnnotationAssertion( "Kanner's syndrome"^^xsd:string) AnnotationAssertion( "Kanners syndrome"^^xsd:string) AnnotationAssertion( "NLGN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PTCHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TMLHED"^^xsd:string) AnnotationAssertion( "autism"^^xsd:string) AnnotationAssertion( "autistic behavior"^^xsd:string) AnnotationAssertion( "autistic disorders"^^xsd:string) AnnotationAssertion( "childhood autism"^^xsd:string) AnnotationAssertion( "early infantile autism"^^xsd:string) AnnotationAssertion( "epsilon-trimethyllysine hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "infantile autism"^^xsd:string) AnnotationAssertion( "CHD8-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CHD8-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "CHROMOSOME 15q11.2 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "SLC9A9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked mental retardation"^^xsd:string) AnnotationAssertion( "autism 1"^^xsd:string) AnnotationAssertion( "severe autism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "AUTS1"^^xsd:string) AnnotationAssertion( "AUTS10"^^xsd:string) AnnotationAssertion( "AUTS11"^^xsd:string) AnnotationAssertion( "AUTS12"^^xsd:string) AnnotationAssertion( "AUTS13"^^xsd:string) AnnotationAssertion( "AUTS15"^^xsd:string) AnnotationAssertion( "AUTS16"^^xsd:string) AnnotationAssertion( "AUTS17"^^xsd:string) AnnotationAssertion( "AUTS19"^^xsd:string) AnnotationAssertion( "AUTS2"^^xsd:string) AnnotationAssertion( "AUTS20"^^xsd:string) AnnotationAssertion( "AUTS3"^^xsd:string) AnnotationAssertion( "AUTS4"^^xsd:string) AnnotationAssertion( "AUTS7"^^xsd:string) AnnotationAssertion( "AUTS8"^^xsd:string) AnnotationAssertion( "AUTS9"^^xsd:string) AnnotationAssertion( "AUTSX1"^^xsd:string) AnnotationAssertion( "AUTSX2"^^xsd:string) AnnotationAssertion( "AUTSX3"^^xsd:string) AnnotationAssertion( "AUTSX4"^^xsd:string) AnnotationAssertion( "AUTSX5"^^xsd:string) AnnotationAssertion( "AUTSX6"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 1"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 2"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 3"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 4"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 5"^^xsd:string) AnnotationAssertion( "Autism, Susceptibility to, X-Linked 6"^^xsd:string) AnnotationAssertion( "Autism-Speech Delay"^^xsd:string) AnnotationAssertion( "DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 13"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 15"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 16"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 17"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 20"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "autism, susceptibility to,19"^^xsd:string) AnnotationAssertion( "DOID:12849"^^xsd:string) AnnotationAssertion(rdfs:label "autistic disorder"^^xsd:string) SubClassOf( ) # Class: (rectal disease) AnnotationAssertion( "Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE)."^^xsd:string) AnnotationAssertion( "RDO:0004869"^^xsd:string) AnnotationAssertion( "EFO:0009685"^^xsd:string) AnnotationAssertion( "MESH:D012002"^^xsd:string) AnnotationAssertion( "Anorectal Diseases"^^xsd:string) AnnotationAssertion( "Anorectal Disorder"^^xsd:string) AnnotationAssertion( "Anorectal Disorders"^^xsd:string) AnnotationAssertion( "Rectal Diseases"^^xsd:string) AnnotationAssertion( "Rectal Disorder"^^xsd:string) AnnotationAssertion( "anorectal disease"^^xsd:string) AnnotationAssertion( "rectal disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1285"^^xsd:string) AnnotationAssertion(rdfs:label "rectal disease"^^xsd:string) SubClassOf( ) # Class: (Achilles bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M76.6"^^xsd:string) AnnotationAssertion( "Achilles bursitis or tendinitis"^^xsd:string) AnnotationAssertion( "Capped hock"^^xsd:string) AnnotationAssertion( "Haglund's deformity"^^xsd:string) AnnotationAssertion( "Haglund's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12857"^^xsd:string) AnnotationAssertion(rdfs:label "Achilles bursitis"^^xsd:string) SubClassOf( ) # Class: (Huntington's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Huntington_disease"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple"^^xsd:string) "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143100"^^xsd:string) AnnotationAssertion( "EFO:0000533"^^xsd:string) AnnotationAssertion( "GARD:6677"^^xsd:string) AnnotationAssertion( "ICD9CM:333.4"^^xsd:string) AnnotationAssertion( "MESH:D006816"^^xsd:string) AnnotationAssertion( "MONDO:0007739"^^xsd:string) AnnotationAssertion( "NCI:C147072"^^xsd:string) AnnotationAssertion( "NCI:C82342"^^xsd:string) AnnotationAssertion( "HD"^^xsd:string) AnnotationAssertion( "Huntington Chronic Progressive Hereditary Chorea"^^xsd:string) AnnotationAssertion( "Huntington Disease, Akinetic Rigid Variant"^^xsd:string) AnnotationAssertion( "Huntington chorea"^^xsd:string) AnnotationAssertion( "Huntington disease"^^xsd:string) AnnotationAssertion( "Huntington's chorea"^^xsd:string) AnnotationAssertion( "akinetic rigid variant of Huntington disease"^^xsd:string) AnnotationAssertion( "juvenile Huntington disease"^^xsd:string) AnnotationAssertion( "juvenile onset Huntington disease"^^xsd:string) AnnotationAssertion( "late onset Huntington disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12858"^^xsd:string) AnnotationAssertion(rdfs:label "Huntington's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (choreatic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chorea"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders"^^xsd:string) "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)"^^xsd:string) AnnotationAssertion( "MIM:118700"^^xsd:string) AnnotationAssertion( "OMIA:002084"^^xsd:string) AnnotationAssertion( "EFO:0004152"^^xsd:string) AnnotationAssertion( "MESH:D002819"^^xsd:string) AnnotationAssertion( "ORDO:1429"^^xsd:string) AnnotationAssertion( "BCH"^^xsd:string) AnnotationAssertion( "BHC"^^xsd:string) AnnotationAssertion( "Benign Hereditary Chorea"^^xsd:string) AnnotationAssertion( "Chorea"^^xsd:string) AnnotationAssertion( "Chorea Disorder"^^xsd:string) AnnotationAssertion( "Chorea Syndrome"^^xsd:string) AnnotationAssertion( "Chorea Syndromes"^^xsd:string) AnnotationAssertion( "Choreas"^^xsd:string) AnnotationAssertion( "Choreatic Disorder"^^xsd:string) AnnotationAssertion( "Choreatic Disorders"^^xsd:string) AnnotationAssertion( "Choreatic Syndrome"^^xsd:string) AnnotationAssertion( "Choreatic Syndromes"^^xsd:string) AnnotationAssertion( "Choreic Movement"^^xsd:string) AnnotationAssertion( "Choreic Movements"^^xsd:string) AnnotationAssertion( "Choreiform Movement"^^xsd:string) AnnotationAssertion( "Choreiform Movements"^^xsd:string) AnnotationAssertion( "Chronic Progressive Chorea"^^xsd:string) AnnotationAssertion( "Chronic Progressive Choreas"^^xsd:string) AnnotationAssertion( "Hereditary Chorea"^^xsd:string) AnnotationAssertion( "Hereditary Choreas"^^xsd:string) AnnotationAssertion( "Hereditary Progressive Chorea Without Dementia"^^xsd:string) AnnotationAssertion( "Paroxysmal Dyskinesia"^^xsd:string) AnnotationAssertion( "Paroxysmal Dyskinesias"^^xsd:string) AnnotationAssertion( "Rheumatic Chorea"^^xsd:string) AnnotationAssertion( "Rheumatic Choreas"^^xsd:string) AnnotationAssertion( "Senile Chorea"^^xsd:string) AnnotationAssertion( "Senile Choreas"^^xsd:string) AnnotationAssertion( "St. Vitus Dance"^^xsd:string) AnnotationAssertion( "St. Vitus's Dance"^^xsd:string) AnnotationAssertion( "St. Vitus's Dances"^^xsd:string) AnnotationAssertion( "St. Vituss Dance"^^xsd:string) AnnotationAssertion( "Sydenham chorea"^^xsd:string) AnnotationAssertion( "Sydenham choreas"^^xsd:string) AnnotationAssertion( "Sydenham's chorea"^^xsd:string) AnnotationAssertion( "Sydenhams chorea"^^xsd:string) AnnotationAssertion( "benign hereditary choreas"^^xsd:string) AnnotationAssertion( "chorea disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12859"^^xsd:string) AnnotationAssertion(rdfs:label "choreatic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiovascular system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Circulatory_system"^^xsd:string) "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000319"^^xsd:string) AnnotationAssertion( "ICD9CM:429.2"^^xsd:string) AnnotationAssertion( "MESH:D002318"^^xsd:string) AnnotationAssertion( "NCI:C2931"^^xsd:string) AnnotationAssertion( "cardiovascular disease"^^xsd:string) AnnotationAssertion( "cardiovascular diseases"^^xsd:string) AnnotationAssertion( "disease of subdivision of hemolymphoid system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1287"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "cardiovascular system disease"^^xsd:string) SubClassOf( ) # Class: (hypochondriasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypochondriasis"^^xsd:string) "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F45.21"^^xsd:string) AnnotationAssertion( "ICD9CM:300.7"^^xsd:string) AnnotationAssertion( "MESH:D006998"^^xsd:string) AnnotationAssertion( "NCI:C9493"^^xsd:string) AnnotationAssertion( "hypochondria"^^xsd:string) AnnotationAssertion( "hypochondriacal disorder"^^xsd:string) AnnotationAssertion( "hypochondriacal neuroses"^^xsd:string) AnnotationAssertion( "hypochondriacal neurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12883"^^xsd:string) AnnotationAssertion(rdfs:label "hypochondriasis"^^xsd:string) SubClassOf( ) # Class: (Miller Fisher syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification"^^xsd:string) "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007371"^^xsd:string) AnnotationAssertion( "GARD:3668"^^xsd:string) AnnotationAssertion( "ICD10CM:G61.0"^^xsd:string) AnnotationAssertion( "MESH:D019846"^^xsd:string) AnnotationAssertion( "NCI:C116958"^^xsd:string) AnnotationAssertion( "Fisher Syndrome"^^xsd:string) AnnotationAssertion( "Fisher's syndrome"^^xsd:string) AnnotationAssertion( "Guillain Barre Syndrome, Miller Fisher Variant"^^xsd:string) AnnotationAssertion( "Miller Fisher variant of Guillain Barre syndrome"^^xsd:string) AnnotationAssertion( "ophthalmoplegia, ataxia and areflexia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12889"^^xsd:string) AnnotationAssertion(rdfs:label "Miller Fisher syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurodegenerative disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Degenerative_disease"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Neurodegeneration"^^xsd:string) "A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)"^^xsd:string) AnnotationAssertion( "TMEM63B-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "EFO:0005772"^^xsd:string) AnnotationAssertion( "EFO:0020919"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.9"^^xsd:string) AnnotationAssertion( "MESH:D019636"^^xsd:string) AnnotationAssertion( "NCI:C27090"^^xsd:string) AnnotationAssertion( "Degenerative Neurologic Disease"^^xsd:string) AnnotationAssertion( "Degenerative Neurologic Disorder"^^xsd:string) AnnotationAssertion( "Nervous System Degenerative Diseases"^^xsd:string) AnnotationAssertion( "Neurodegenerative Diseases"^^xsd:string) AnnotationAssertion( "Neurodegenerative Disorder"^^xsd:string) AnnotationAssertion( "Neurodegenerative Disorders"^^xsd:string) AnnotationAssertion( "central nervous system degenerative diseases"^^xsd:string) AnnotationAssertion( "degenerative disease"^^xsd:string) AnnotationAssertion( "degenerative neurologic diseases"^^xsd:string) AnnotationAssertion( "degenerative neurologic disorders"^^xsd:string) AnnotationAssertion( "neurologic degenerative condition"^^xsd:string) AnnotationAssertion( "neurologic degenerative conditions"^^xsd:string) AnnotationAssertion( "spinal cord degenerative diseases"^^xsd:string) AnnotationAssertion( "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy"^^xsd:string) AnnotationAssertion( "progressive neurodegenerative disease"^^xsd:string) AnnotationAssertion( "severe cystic degeneration of the brain"^^xsd:string) AnnotationAssertion( "subacute myelo-opticoneuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1289"^^xsd:string) AnnotationAssertion(rdfs:label "neurodegenerative disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sjogren's syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome"^^xsd:string) "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270150"^^xsd:string) AnnotationAssertion( "EFO:0000699"^^xsd:string) AnnotationAssertion( "GARD:10252"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.0"^^xsd:string) AnnotationAssertion( "ICD9CM:710.2"^^xsd:string) AnnotationAssertion( "MESH:D012859"^^xsd:string) AnnotationAssertion( "NCI:C26883"^^xsd:string) AnnotationAssertion( "NCI:C70647"^^xsd:string) AnnotationAssertion( "Sicca Syndrome"^^xsd:string) AnnotationAssertion( "Sjogren Syndrome"^^xsd:string) AnnotationAssertion( "Sjogrens Syndrome"^^xsd:string) AnnotationAssertion( "xerodermosteosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12894"^^xsd:string) AnnotationAssertion(rdfs:label "Sjogren's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (keratoconjunctivitis sicca) AnnotationAssertion(Annotation( "MESH:D007638"^^xsd:string) "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME."^^xsd:string) AnnotationAssertion( "GARD:8444"^^xsd:string) AnnotationAssertion( "MESH:D007638"^^xsd:string) AnnotationAssertion( "KCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12895"^^xsd:string) AnnotationAssertion(rdfs:label "keratoconjunctivitis sicca"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (submandibular gland disease) AnnotationAssertion(Annotation( "MESH:D013364"^^xsd:string) "Diseases involving the SUBMANDIBULAR GLAND."^^xsd:string) AnnotationAssertion( "MESH:D013364"^^xsd:string) AnnotationAssertion( "RDO:0006641"^^xsd:string) AnnotationAssertion( "submandibular gland diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12897"^^xsd:string) AnnotationAssertion(rdfs:label "submandibular gland disease"^^xsd:string) SubClassOf( ) # Class: (benign lymphoepithelial lesion of salivary gland) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3949"^^xsd:string) AnnotationAssertion( "RDO:9004891"^^xsd:string) AnnotationAssertion( "Godwin tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12899"^^xsd:string) AnnotationAssertion(rdfs:label "benign lymphoepithelial lesion of salivary gland"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mikulicz disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/mikulicz-syndrome/"^^xsd:string) "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7043"^^xsd:string) AnnotationAssertion( "ICD10CM:K11.8"^^xsd:string) AnnotationAssertion( "MESH:D008882"^^xsd:string) AnnotationAssertion( "NCI:C34819"^^xsd:string) AnnotationAssertion( "IgG4-related dacryoadenitis and sialadenitis"^^xsd:string) AnnotationAssertion( "Mikulicz's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12900"^^xsd:string) AnnotationAssertion(rdfs:label "Mikulicz disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (necrotizing sialometaplasia) AnnotationAssertion(Annotation( "MESH:D012797"^^xsd:string) "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma."^^xsd:string) AnnotationAssertion( "EFO:1001057"^^xsd:string) AnnotationAssertion( "MESH:D012797"^^xsd:string) AnnotationAssertion( "Necrotizing Sialometaplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12901"^^xsd:string) AnnotationAssertion(rdfs:label "necrotizing sialometaplasia"^^xsd:string) SubClassOf( ) # Class: (mucocele of salivary gland) AnnotationAssertion(Annotation( "MESH:D011900"^^xsd:string) "A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele."^^xsd:string) AnnotationAssertion( "ICD10CM:K11.6"^^xsd:string) AnnotationAssertion( "ICD9CM:527.6"^^xsd:string) AnnotationAssertion( "MESH:D011900"^^xsd:string) AnnotationAssertion( "NCI:C127828"^^xsd:string) AnnotationAssertion( "NCI:C27649"^^xsd:string) AnnotationAssertion( "mucous retention cyst of salivary gland"^^xsd:string) AnnotationAssertion( "ranula"^^xsd:string) AnnotationAssertion( "ranulas"^^xsd:string) AnnotationAssertion( "salivary cyst"^^xsd:string) AnnotationAssertion( "salivary gland mucocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12904"^^xsd:string) AnnotationAssertion(rdfs:label "mucocele of salivary gland"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sialolithiasis) AnnotationAssertion(Annotation( "MESH:D015494"^^xsd:string) "Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands."^^xsd:string) AnnotationAssertion( "EFO:1001180"^^xsd:string) AnnotationAssertion( "ICD10CM:K11.5"^^xsd:string) AnnotationAssertion( "ICD9CM:527.5"^^xsd:string) AnnotationAssertion( "MESH:D015494"^^xsd:string) AnnotationAssertion( "Salivary Gland Calculi"^^xsd:string) AnnotationAssertion( "Salivary Gland Calculus"^^xsd:string) AnnotationAssertion( "Salivary Gland Stone"^^xsd:string) AnnotationAssertion( "Salivary Gland Stones"^^xsd:string) AnnotationAssertion( "Sialolith"^^xsd:string) AnnotationAssertion( "Sialoliths"^^xsd:string) AnnotationAssertion( "stone of salivary gland or duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12905"^^xsd:string) AnnotationAssertion(rdfs:label "sialolithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thromboangiitis obliterans) AnnotationAssertion(Annotation( "MESH:D013919"^^xsd:string) "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking."^^xsd:string) AnnotationAssertion( "MIM:211480"^^xsd:string) AnnotationAssertion( "EFO:1001211"^^xsd:string) AnnotationAssertion( "ICD10CM:I73.1"^^xsd:string) AnnotationAssertion( "ICD9CM:443.1"^^xsd:string) AnnotationAssertion( "MESH:D013919"^^xsd:string) AnnotationAssertion( "NCI:C35070"^^xsd:string) AnnotationAssertion( "Buerger disease"^^xsd:string) AnnotationAssertion( "Buerger's disease"^^xsd:string) AnnotationAssertion( "Buergers disease"^^xsd:string) AnnotationAssertion( "presenile gangrene"^^xsd:string) AnnotationAssertion( "thromboangitis obliterans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12918"^^xsd:string) AnnotationAssertion(rdfs:label "thromboangiitis obliterans"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Plasmodium ovale malaria) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria"^^xsd:string) "A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B53.0"^^xsd:string) AnnotationAssertion( "ICD9CM:084.3"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:084.3"^^xsd:string) "Malariaby Plasmodium ovale"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:19341001"^^xsd:string) "Ovale malaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12919"^^xsd:string) AnnotationAssertion(rdfs:label "Plasmodium ovale malaria"^^xsd:string) SubClassOf( ) # Class: (hypodermyiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatobia_hominis"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Hypodermyiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string) "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007320"^^xsd:string) AnnotationAssertion( "GARD:2883"^^xsd:string) AnnotationAssertion( "MESH:D007000"^^xsd:string) AnnotationAssertion( "hypodermyiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12926"^^xsd:string) AnnotationAssertion(rdfs:label "hypodermyiasis"^^xsd:string) SubClassOf( ) # Class: (screw worm infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chrysomya_bezziana"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm"^^xsd:string) "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007479"^^xsd:string) AnnotationAssertion( "MESH:D012610"^^xsd:string) AnnotationAssertion( "screw worm infection"^^xsd:string) AnnotationAssertion( "screw worm infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12927"^^xsd:string) AnnotationAssertion(rdfs:label "screw worm infectious disease"^^xsd:string) SubClassOf( ) # Class: (endocardial fibroelastosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocardial_fibroelastosis"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract"^^xsd:string) "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226000"^^xsd:string) AnnotationAssertion( "EFO:0007251"^^xsd:string) AnnotationAssertion( "GARD:2121"^^xsd:string) AnnotationAssertion( "GARD:6336"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.4"^^xsd:string) AnnotationAssertion( "ICD9CM:425.3"^^xsd:string) AnnotationAssertion( "MESH:D004695"^^xsd:string) AnnotationAssertion( "NCI:C98922"^^xsd:string) AnnotationAssertion( "elastomyofibrosis"^^xsd:string) AnnotationAssertion( "endocardial fibroelastoses"^^xsd:string) AnnotationAssertion( "endomyocardial fibroelastosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12929"^^xsd:string) AnnotationAssertion(rdfs:label "endocardial fibroelastosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (labia minora carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13733610"^^xsd:string) "A vulva carcinoma that is located_in the labia minora. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9364"^^xsd:string) AnnotationAssertion( "carcinoma of labia minora"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1293"^^xsd:string) AnnotationAssertion(rdfs:label "labia minora carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dilated cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dilated_cardiomyopathy"^^xsd:string) "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000372"^^xsd:string) AnnotationAssertion( "EFO:0000407"^^xsd:string) AnnotationAssertion( "EFO:0009094"^^xsd:string) AnnotationAssertion( "EFO:0009142"^^xsd:string) AnnotationAssertion( "EFO:0010953"^^xsd:string) AnnotationAssertion( "GARD:221"^^xsd:string) AnnotationAssertion( "MESH:D002311"^^xsd:string) AnnotationAssertion( "MIM:PS115200"^^xsd:string) AnnotationAssertion( "NCI:C84673"^^xsd:string) AnnotationAssertion( "ORDO:217604"^^xsd:string) AnnotationAssertion( "congestive cardiomyopathies"^^xsd:string) AnnotationAssertion( "congestive cardiomyopathy"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathies"^^xsd:string) AnnotationAssertion( "idiopathic dilated cardiomyopathies"^^xsd:string) AnnotationAssertion( "ANKRD1-related dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "FDC"^^xsd:string) AnnotationAssertion( "IDCM"^^xsd:string) AnnotationAssertion( "LVNC4"^^xsd:string) AnnotationAssertion( "NEONATAL CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "autosomal dominant dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, and heart failure"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, dominant"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy, recessive"^^xsd:string) AnnotationAssertion( "familial dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "familial idiopathic cardiomyopathies"^^xsd:string) AnnotationAssertion( "familial idiopathic cardiomyopathy"^^xsd:string) AnnotationAssertion( "fatal cardiomyopathy"^^xsd:string) AnnotationAssertion( "fatal cardiomyopathy, infantile"^^xsd:string) AnnotationAssertion( "idiopathic dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "idiopathic dilation cardiomyopathy"^^xsd:string) AnnotationAssertion( "left ventricular noncompaction 4"^^xsd:string) AnnotationAssertion( "primary dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANKRD1-related condition"^^xsd:string) AnnotationAssertion( "DOID:12930"^^xsd:string) AnnotationAssertion(rdfs:label "dilated cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endomyocardial fibrosis) AnnotationAssertion(Annotation( "MESH:D004719"^^xsd:string) "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)."^^xsd:string) AnnotationAssertion( "EFO:1000921"^^xsd:string) AnnotationAssertion( "GARD:6340"^^xsd:string) AnnotationAssertion( "ICD9CM:425.0"^^xsd:string) AnnotationAssertion( "MESH:D004719"^^xsd:string) AnnotationAssertion( "NCI:C34585"^^xsd:string) AnnotationAssertion( "African endomyocardial fibrosis"^^xsd:string) AnnotationAssertion( "Becker's disease"^^xsd:string) AnnotationAssertion( "Endomyocardial Fibroses"^^xsd:string) AnnotationAssertion( "endomyocardial sclerosis"^^xsd:string) AnnotationAssertion( "obscure African cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12932"^^xsd:string) AnnotationAssertion(rdfs:label "endomyocardial fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kearns-Sayre syndrome) AnnotationAssertion(Annotation( "MESH:D007625"^^xsd:string) "A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)"^^xsd:string) AnnotationAssertion( "GARD:6817"^^xsd:string) AnnotationAssertion( "ICD10CM:H49.81"^^xsd:string) AnnotationAssertion( "MESH:D007625"^^xsd:string) AnnotationAssertion( "MIM:530000"^^xsd:string) AnnotationAssertion( "MONDO:0010787"^^xsd:string) AnnotationAssertion( "NCI:C84798"^^xsd:string) AnnotationAssertion( "ORDO:480"^^xsd:string) AnnotationAssertion( "CPEO With Ragged-Red Fibers"^^xsd:string) AnnotationAssertion( "CPEO with Myopathy"^^xsd:string) AnnotationAssertion( "CPEO with myopathies"^^xsd:string) AnnotationAssertion( "KSS"^^xsd:string) AnnotationAssertion( "Kearn Sayre Mitochondrial Cytopathy"^^xsd:string) AnnotationAssertion( "Kearn Syndrome"^^xsd:string) AnnotationAssertion( "Kearns Sayre Shy Daroff Syndrome"^^xsd:string) AnnotationAssertion( "Kearns Syndrome"^^xsd:string) AnnotationAssertion( "Kearns-Sayre Mitochondrial Cytopathy"^^xsd:string) AnnotationAssertion( "Oculocraniosomatic Syndrome"^^xsd:string) AnnotationAssertion( "Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy"^^xsd:string) AnnotationAssertion( "chronic progressive external ophthalmoplegia with myopathy"^^xsd:string) AnnotationAssertion( "oculocraniosomatic syndromes"^^xsd:string) AnnotationAssertion( "ophthalmoplegia plus syndrome"^^xsd:string) AnnotationAssertion( "ophthalmoplegia plus syndromes"^^xsd:string) AnnotationAssertion( "progressive external ophthalmoplegia with ragged-red fibers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12934"^^xsd:string) AnnotationAssertion(rdfs:label "Kearns-Sayre syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alcoholic cardiomyopathy) AnnotationAssertion(Annotation( "MESH:D002310"^^xsd:string) "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)."^^xsd:string) AnnotationAssertion( "EFO:1000801"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.6"^^xsd:string) AnnotationAssertion( "ICD9CM:425.5"^^xsd:string) AnnotationAssertion( "MESH:D002310"^^xsd:string) AnnotationAssertion( "NCI:C53653"^^xsd:string) AnnotationAssertion( "alcohol-induced heart muscle disease"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy secondary to alcohol"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12935"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vulva carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/vulvar"^^xsd:string) "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002921"^^xsd:string) AnnotationAssertion( "NCI:C4866"^^xsd:string) AnnotationAssertion( "carcinoma of vulva"^^xsd:string) AnnotationAssertion( "vulvar carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1294"^^xsd:string) AnnotationAssertion(rdfs:label "vulva carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (paralytic lagophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.23"^^xsd:string) AnnotationAssertion( "ICD9CM:374.21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12958"^^xsd:string) AnnotationAssertion(rdfs:label "paralytic lagophthalmos"^^xsd:string) SubClassOf( ) # Class: (lagophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.2"^^xsd:string) AnnotationAssertion( "ICD9CM:374.2"^^xsd:string) AnnotationAssertion( "MESH:D000092164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12959"^^xsd:string) AnnotationAssertion(rdfs:label "lagophthalmos"^^xsd:string) SubClassOf( ) # Class: (acrocephalosyndactylia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrocephalosyndactylia"^^xsd:string) "A synostosis that results_in craniosynostosis and syndactyly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101200"^^xsd:string) AnnotationAssertion( "EFO:0004123"^^xsd:string) AnnotationAssertion( "ICD9CM:755.55"^^xsd:string) AnnotationAssertion( "MESH:D000168"^^xsd:string) AnnotationAssertion( "MONDO:0019796"^^xsd:string) AnnotationAssertion( "NCI:C34348"^^xsd:string) AnnotationAssertion( "NCI:C99099"^^xsd:string) AnnotationAssertion( "ACS1"^^xsd:string) AnnotationAssertion( "Acrocephalosyndactylies, Type 1"^^xsd:string) AnnotationAssertion( "Acrocephalosyndactyly (Apert)"^^xsd:string) AnnotationAssertion( "Acrocephalosyndactyly, Type 1"^^xsd:string) AnnotationAssertion( "Acrocephaly, Skull Asymmetry, and Mild Syndactyly"^^xsd:string) AnnotationAssertion( "Apert Crouzon Disease"^^xsd:string) AnnotationAssertion( "Apert Syndrome"^^xsd:string) AnnotationAssertion( "Craniofacial-Skeletal-Dermatologic Dysplasia"^^xsd:string) AnnotationAssertion( "Dysostosis Craniofacialis with Hypertelorism"^^xsd:string) AnnotationAssertion( "Kurczynski Casperson Syndrome"^^xsd:string) AnnotationAssertion( "Noack Syndrome"^^xsd:string) AnnotationAssertion( "Noack Syndromes"^^xsd:string) AnnotationAssertion( "Syndactylic Oxycephalies"^^xsd:string) AnnotationAssertion( "Syndactylic Oxycephaly"^^xsd:string) AnnotationAssertion( "Type I Acrocephalosyndactylies"^^xsd:string) AnnotationAssertion( "Type I Acrocephalosyndactyly"^^xsd:string) AnnotationAssertion( "Type II Acrocephalosyndactylies"^^xsd:string) AnnotationAssertion( "acrocephalosyndactylias"^^xsd:string) AnnotationAssertion( "ACROCEPHALOSYNDACTYLY, TYPE II"^^xsd:string) AnnotationAssertion( "ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES"^^xsd:string) AnnotationAssertion( "ACS I APERT-CROUZON DISEASE"^^xsd:string) AnnotationAssertion( "ACS II"^^xsd:string) AnnotationAssertion( "VOGT cephalodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12960"^^xsd:string) AnnotationAssertion(rdfs:label "acrocephalosyndactylia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Poland syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25831684"^^xsd:string) "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. (DO)"^^xsd:string) AnnotationAssertion( "MIM:173800"^^xsd:string) AnnotationAssertion( "GARD:7412"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.8"^^xsd:string) AnnotationAssertion( "MESH:D011045"^^xsd:string) AnnotationAssertion( "NCI:C85017"^^xsd:string) AnnotationAssertion( "Poland anomaly"^^xsd:string) AnnotationAssertion( "Poland sequence"^^xsd:string) AnnotationAssertion( "Poland syndactyly"^^xsd:string) AnnotationAssertion( "Poland's syndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12961"^^xsd:string) AnnotationAssertion(rdfs:label "Poland syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (subleukemic leukemia) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia"^^xsd:string) "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12965"^^xsd:string) AnnotationAssertion(rdfs:label "subleukemic leukemia"^^xsd:string) SubClassOf( ) # Class: (central nervous system leukemia) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/gl61tx644217n938/"^^xsd:string) "A hematologic cancer located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001606"^^xsd:string) AnnotationAssertion( "NCI:C5440"^^xsd:string) AnnotationAssertion( "leukemia of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12969"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary spherocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_spherocytosis"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/RBCmembrane/"^^xsd:string) "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536356"^^xsd:string) AnnotationAssertion( "SPHEROCYTOSIS"^^xsd:string) AnnotationAssertion( "EFO:0011064"^^xsd:string) AnnotationAssertion( "GARD:6639"^^xsd:string) AnnotationAssertion( "ICD10CM:D58.0"^^xsd:string) AnnotationAssertion( "ICD9CM:282.0"^^xsd:string) AnnotationAssertion( "MESH:D013103"^^xsd:string) AnnotationAssertion( "NCI:C97074"^^xsd:string) AnnotationAssertion( "ORDO:822"^^xsd:string) AnnotationAssertion( "Debrie's familial haemolytic disease"^^xsd:string) AnnotationAssertion( "HS"^^xsd:string) AnnotationAssertion( "Minkowski Chauffard syndrome"^^xsd:string) AnnotationAssertion( "Minkowski-Chauffard disease"^^xsd:string) AnnotationAssertion( "Minkowski-Chauffard haemolytic jaundice"^^xsd:string) AnnotationAssertion( "Minkowski-Chauffard-Gänsslen syndrome"^^xsd:string) AnnotationAssertion( "acholuric jaundice"^^xsd:string) AnnotationAssertion( "chronic acholuric jaundice"^^xsd:string) AnnotationAssertion( "congenital hemolytic jaundice"^^xsd:string) AnnotationAssertion( "congenital spherocytic hemolytic anemia"^^xsd:string) AnnotationAssertion( "congenital spherocytosis"^^xsd:string) AnnotationAssertion( "hereditary spherocytic hemolytic anemia"^^xsd:string) AnnotationAssertion( "hereditary spherocytoses"^^xsd:string) AnnotationAssertion( "spherocytic anemia"^^xsd:string) AnnotationAssertion( "dominant spherocytosis"^^xsd:string) AnnotationAssertion( "recessive spherocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12971"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spherocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrapelvic lymph node leukemic reticuloendotheliosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:202.46"^^xsd:string) AnnotationAssertion( "leukemic reticuloendotheliosis involving intrapelvic lymph nodes"^^xsd:string) AnnotationAssertion( "leukemic reticuloendotheliosis of intrapelvic lymph nodes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12972"^^xsd:string) AnnotationAssertion(rdfs:label "intrapelvic lymph node leukemic reticuloendotheliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Plasmodium vivax malaria) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria"^^xsd:string) "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. (DO)"^^xsd:string) AnnotationAssertion( "MIM:110700"^^xsd:string) AnnotationAssertion( "EFO:0007445"^^xsd:string) AnnotationAssertion( "ICD10CM:B51"^^xsd:string) AnnotationAssertion( "ICD9CM:084.1"^^xsd:string) AnnotationAssertion( "MESH:D016780"^^xsd:string) AnnotationAssertion( "NCI:C34800"^^xsd:string) AnnotationAssertion( "malaria by Plasmodium vivax"^^xsd:string) AnnotationAssertion( "vivax malaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "resistance to Plasmodium vivax infection"^^xsd:string) AnnotationAssertion( "DOID:12978"^^xsd:string) AnnotationAssertion(rdfs:label "Plasmodium vivax malaria"^^xsd:string) SubClassOf( ) # Class: (vagus nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5831"^^xsd:string) AnnotationAssertion( "neoplasm of vagus nerve"^^xsd:string) AnnotationAssertion( "vagus nerve tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12984"^^xsd:string) AnnotationAssertion(rdfs:label "vagus nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (leukostasis) AnnotationAssertion(Annotation( "MESH:D018921"^^xsd:string) "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs."^^xsd:string) AnnotationAssertion( "EFO:1001016"^^xsd:string) AnnotationAssertion( "MESH:D018921"^^xsd:string) AnnotationAssertion( "NCI:C4062"^^xsd:string) AnnotationAssertion( "Leukostases"^^xsd:string) AnnotationAssertion( "Leukostasis Syndrome"^^xsd:string) AnnotationAssertion( "Leukostasis Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12986"^^xsd:string) AnnotationAssertion(rdfs:label "leukostasis"^^xsd:string) SubClassOf( ) # Class: (agranulocytosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Agranulocytosis"^^xsd:string) "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000380"^^xsd:string) AnnotationAssertion( "NCI:C2863"^^xsd:string) AnnotationAssertion( "Agranulocytoses"^^xsd:string) AnnotationAssertion( "Granulocytopenia"^^xsd:string) AnnotationAssertion( "Granulocytopenias"^^xsd:string) AnnotationAssertion( "granulocytopenic disorder"^^xsd:string) AnnotationAssertion( "granulopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12987"^^xsd:string) AnnotationAssertion(rdfs:label "agranulocytosis"^^xsd:string) SubClassOf( ) # Class: (conduct disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conduct_disorder"^^xsd:string) Annotation( "http://www.nmha.org/go/conduct-disorder"^^xsd:string) "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004216"^^xsd:string) AnnotationAssertion( "ICD10CM:F91"^^xsd:string) AnnotationAssertion( "ICD9CM:312.9"^^xsd:string) AnnotationAssertion( "MESH:D019955"^^xsd:string) AnnotationAssertion( "NCI:C89329"^^xsd:string) AnnotationAssertion( "behavior disorder"^^xsd:string) AnnotationAssertion( "conduct disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12995"^^xsd:string) AnnotationAssertion(rdfs:label "conduct disorder"^^xsd:string) SubClassOf( ) # Class: (acute dacryocystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.32"^^xsd:string) AnnotationAssertion( "ICD9CM:375.32"^^xsd:string) AnnotationAssertion( "MONDO:0001610"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12996"^^xsd:string) AnnotationAssertion(rdfs:label "acute dacryocystitis"^^xsd:string) SubClassOf( ) # Class: (phlegmonous dacryocystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.31"^^xsd:string) AnnotationAssertion( "ICD9CM:375.33"^^xsd:string) AnnotationAssertion( "RDO:9003289"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:12997"^^xsd:string) AnnotationAssertion(rdfs:label "phlegmonous dacryocystitis"^^xsd:string) SubClassOf( ) # Class: (carotid stenosis) AnnotationAssertion(Annotation( "MESH:D016893"^^xsd:string) "Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)"^^xsd:string) AnnotationAssertion( "RDO:0007010"^^xsd:string) AnnotationAssertion( "EFO:0002615"^^xsd:string) AnnotationAssertion( "MESH:D016893"^^xsd:string) AnnotationAssertion( "NCI:C95804"^^xsd:string) AnnotationAssertion( "Carotid Artery Narrowing"^^xsd:string) AnnotationAssertion( "Carotid Artery Narrowings"^^xsd:string) AnnotationAssertion( "Carotid Artery Plaque"^^xsd:string) AnnotationAssertion( "Carotid Artery Plaques"^^xsd:string) AnnotationAssertion( "Carotid Artery Stenoses"^^xsd:string) AnnotationAssertion( "Carotid Artery Stenosis"^^xsd:string) AnnotationAssertion( "Carotid Artery Ulcerating Plaque"^^xsd:string) AnnotationAssertion( "Carotid Occlusive Disease"^^xsd:string) AnnotationAssertion( "Carotid Stenoses"^^xsd:string) AnnotationAssertion( "Carotid Ulcer"^^xsd:string) AnnotationAssertion( "Carotid Ulcers"^^xsd:string) AnnotationAssertion( "Common Carotid Artery Stenosis"^^xsd:string) AnnotationAssertion( "External Carotid Artery Stenosis"^^xsd:string) AnnotationAssertion( "Internal Carotid Artery Stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Carotid Stenosis, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:13001"^^xsd:string) AnnotationAssertion(rdfs:label "carotid stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subclavian steal syndrome) AnnotationAssertion(Annotation( "MESH:D013349"^^xsd:string) "A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)"^^xsd:string) AnnotationAssertion( "RDO:0006634"^^xsd:string) AnnotationAssertion( "EFO:1001195"^^xsd:string) AnnotationAssertion( "ICD9CM:435.2"^^xsd:string) AnnotationAssertion( "MESH:D013349"^^xsd:string) AnnotationAssertion( "NCI:C35044"^^xsd:string) AnnotationAssertion( "Basilar Steal Syndromes"^^xsd:string) AnnotationAssertion( "Brachial Basilar Insufficiency Syndrome"^^xsd:string) AnnotationAssertion( "Brachial-Basilar Insufficiency Syndromes"^^xsd:string) AnnotationAssertion( "Subclavian Artery Stenoses"^^xsd:string) AnnotationAssertion( "Subclavian Artery Stenosis"^^xsd:string) AnnotationAssertion( "Subclavian Carotid Artery Steal Syndrome"^^xsd:string) AnnotationAssertion( "Subclavian Steal"^^xsd:string) AnnotationAssertion( "Subclavian Steal Phenomenon"^^xsd:string) AnnotationAssertion( "basilar steal syndrome"^^xsd:string) AnnotationAssertion( "subclavian steal steno-occlusive disease"^^xsd:string) AnnotationAssertion( "subclavian steal syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13002"^^xsd:string) AnnotationAssertion(rdfs:label "subclavian steal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vertebrobasilar insufficiency) AnnotationAssertion( "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."^^xsd:string) AnnotationAssertion( "EFO:1001449"^^xsd:string) AnnotationAssertion( "ICD10CM:G45.0"^^xsd:string) AnnotationAssertion( "ICD9CM:435.3"^^xsd:string) AnnotationAssertion( "MESH:D014715"^^xsd:string) AnnotationAssertion( "Vertebro Basilar Insufficiency"^^xsd:string) AnnotationAssertion( "Vertebro Basilar Ischemia"^^xsd:string) AnnotationAssertion( "Vertebro-Basilar Insufficiencies"^^xsd:string) AnnotationAssertion( "Vertebro-Basilar Ischemias"^^xsd:string) AnnotationAssertion( "Vertebrobasilar Dolichoectasia"^^xsd:string) AnnotationAssertion( "Vertebrobasilar Insufficiencies"^^xsd:string) AnnotationAssertion( "Vertebrobasilar Ischemia"^^xsd:string) AnnotationAssertion( "Vertebrobasilar artery syndrome"^^xsd:string) AnnotationAssertion( "vertebrobasilar arterial insufficiency"^^xsd:string) AnnotationAssertion( "vertebrobasilar dolichoectasias"^^xsd:string) AnnotationAssertion( "vertebrobasilar ischemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13003"^^xsd:string) AnnotationAssertion(rdfs:label "vertebrobasilar insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intra-abdominal lymph node mast cell malignancy) AnnotationAssertion( "ICD9CM:202.63"^^xsd:string) AnnotationAssertion( "malignant mast cell tumors involving intra-abdominal lymph nodes"^^xsd:string) AnnotationAssertion( "mast cell malignancy of intra-abdominal lymph nodes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13005"^^xsd:string) AnnotationAssertion(rdfs:label "intra-abdominal lymph node mast cell malignancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (shipyard eye) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:077.1"^^xsd:string) AnnotationAssertion( "NCI:C34590"^^xsd:string) AnnotationAssertion( "EKC"^^xsd:string) AnnotationAssertion( "Epidemic keratoconjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13014"^^xsd:string) AnnotationAssertion(rdfs:label "shipyard eye"^^xsd:string) SubClassOf( ) # Class: (retinopathy of prematurity) AnnotationAssertion(Annotation( "MESH:D012178"^^xsd:string) "A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001158"^^xsd:string) AnnotationAssertion( "GARD:5695"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.1"^^xsd:string) AnnotationAssertion( "ICD9CM:362.21"^^xsd:string) AnnotationAssertion( "MESH:D012178"^^xsd:string) AnnotationAssertion( "NCI:C34982"^^xsd:string) AnnotationAssertion( "RDO:0006483"^^xsd:string) AnnotationAssertion( "Prematurity Retinopathies"^^xsd:string) AnnotationAssertion( "Prematurity Retinopathy"^^xsd:string) AnnotationAssertion( "Retrolental Fibroplasia"^^xsd:string) AnnotationAssertion( "Retrolental Fibroplasias"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:1114-9578"^^xsd:string) "premature retinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13025"^^xsd:string) AnnotationAssertion(rdfs:label "retinopathy of prematurity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lobomycosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/EID/content/15/8/1301.htm"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html"^^xsd:string) "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001805"^^xsd:string) AnnotationAssertion( "ICD10CM:B48.0"^^xsd:string) AnnotationAssertion( "ICD9CM:116.2"^^xsd:string) AnnotationAssertion( "MESH:D060368"^^xsd:string) AnnotationAssertion( "Jorge Lobo Disease"^^xsd:string) AnnotationAssertion( "Jorge Lobo's Disease"^^xsd:string) AnnotationAssertion( "Jorge Lobos Disease"^^xsd:string) AnnotationAssertion( "Keloidal Blastomycoses"^^xsd:string) AnnotationAssertion( "Keloidal Blastomycosis"^^xsd:string) AnnotationAssertion( "Lacazioses"^^xsd:string) AnnotationAssertion( "Lacaziosis"^^xsd:string) AnnotationAssertion( "Lobomycoses"^^xsd:string) AnnotationAssertion( "cutaneous lobomycosis"^^xsd:string) AnnotationAssertion( "infection by Loboa loboi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Cutaneous blastomycosis"^^xsd:string) AnnotationAssertion( "DOID:13026"^^xsd:string) AnnotationAssertion(rdfs:label "lobomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient global amnesia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Transient_global_amnesia"^^xsd:string) "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8172"^^xsd:string) AnnotationAssertion( "ICD10CM:G45.4"^^xsd:string) AnnotationAssertion( "ICD9CM:437.7"^^xsd:string) AnnotationAssertion( "MESH:D020236"^^xsd:string) AnnotationAssertion( "NCI:C85198"^^xsd:string) AnnotationAssertion( "TGA (transient global amnesia)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13027"^^xsd:string) AnnotationAssertion(rdfs:label "transient global amnesia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (balanoposthitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N47.6"^^xsd:string) AnnotationAssertion( "ICD9CM:607.1"^^xsd:string) AnnotationAssertion( "RDO:9003945"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13031"^^xsd:string) AnnotationAssertion(rdfs:label "balanoposthitis"^^xsd:string) SubClassOf( ) # Class: (balanitis) AnnotationAssertion(Annotation( "MESH:D001446"^^xsd:string) "Inflammation of the head of the PENIS, glans penis."^^xsd:string) AnnotationAssertion( "EFO:1000833"^^xsd:string) AnnotationAssertion( "ICD10CM:N48.1"^^xsd:string) AnnotationAssertion( "MESH:D001446"^^xsd:string) AnnotationAssertion( "NCI:C26705"^^xsd:string) AnnotationAssertion( "RDO:0004971"^^xsd:string) AnnotationAssertion( "Balanitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13033"^^xsd:string) AnnotationAssertion(rdfs:label "balanitis"^^xsd:string) SubClassOf( ) # Class: (relapsing fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A68"^^xsd:string) AnnotationAssertion( "ICD9CM:087"^^xsd:string) AnnotationAssertion( "MESH:D012061"^^xsd:string) AnnotationAssertion( "Relapsing Fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13034"^^xsd:string) AnnotationAssertion(rdfs:label "relapsing fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (louse-borne relapsing fever) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30869050"^^xsd:string) "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A68.0"^^xsd:string) AnnotationAssertion( "ICD9CM:087.0"^^xsd:string) AnnotationAssertion( "NCI:C128426"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13035"^^xsd:string) AnnotationAssertion(rdfs:label "louse-borne relapsing fever"^^xsd:string) SubClassOf( ) # Class: (tick-borne relapsing fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Relapsing_fever"^^xsd:string) "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A68.1"^^xsd:string) AnnotationAssertion( "ICD9CM:087.1"^^xsd:string) AnnotationAssertion( "NCI:C34976"^^xsd:string) AnnotationAssertion( "soft tick relapsing fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13036"^^xsd:string) AnnotationAssertion(rdfs:label "tick-borne relapsing fever"^^xsd:string) SubClassOf( ) # Class: (mechanical lagophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.22"^^xsd:string) AnnotationAssertion( "ICD9CM:374.22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13037"^^xsd:string) AnnotationAssertion(rdfs:label "mechanical lagophthalmos"^^xsd:string) SubClassOf( ) # Class: (cicatricial lagophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.21"^^xsd:string) AnnotationAssertion( "ICD9CM:374.23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13038"^^xsd:string) AnnotationAssertion(rdfs:label "cicatricial lagophthalmos"^^xsd:string) SubClassOf( ) # Class: (persistent fetal circulation syndrome) AnnotationAssertion(Annotation( "MESH:D010547"^^xsd:string) "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)."^^xsd:string) AnnotationAssertion( "MIM:265380"^^xsd:string) AnnotationAssertion( "EFO:1001103"^^xsd:string) AnnotationAssertion( "ICD10CM:P29.3"^^xsd:string) AnnotationAssertion( "ICD10CM:P29.30"^^xsd:string) AnnotationAssertion( "ICD9CM:747.83"^^xsd:string) AnnotationAssertion( "MESH:C536590"^^xsd:string) AnnotationAssertion( "MESH:D010547"^^xsd:string) AnnotationAssertion( "NCI:C85006"^^xsd:string) AnnotationAssertion( "NCI:C98809"^^xsd:string) AnnotationAssertion( "ACD MPV"^^xsd:string) AnnotationAssertion( "ACDMPV"^^xsd:string) AnnotationAssertion( "Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies"^^xsd:string) AnnotationAssertion( "Congenital alveolar capillary dysplasia"^^xsd:string) AnnotationAssertion( "Familial Persistent Pulmonary Hypertension of the Newborn"^^xsd:string) AnnotationAssertion( "Misalignment of the Pulmonary Vessels"^^xsd:string) AnnotationAssertion( "Persistent Fetal Circulation"^^xsd:string) AnnotationAssertion( "alveolar capillary dysplasia"^^xsd:string) AnnotationAssertion( "alveolar capillary dysplasia with misalignment of pulmonary veins"^^xsd:string) AnnotationAssertion( "congenital alveolar capillary dysplasia with misalignment of pulmonary veins"^^xsd:string) AnnotationAssertion( "fetal circulation"^^xsd:string) AnnotationAssertion( "persistent foetal circulation"^^xsd:string) AnnotationAssertion( "persistent foetal circulation syndrome"^^xsd:string) AnnotationAssertion( "persistent pulmonary hypertension of newborn"^^xsd:string) AnnotationAssertion( "persistent pulmonary hypertension of the newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13042"^^xsd:string) AnnotationAssertion(rdfs:label "persistent fetal circulation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute sphenoidal sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) "A sphenoid sinusitis which lasts for less than 4 weeks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.3"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.30"^^xsd:string) AnnotationAssertion( "ICD9CM:461.3"^^xsd:string) AnnotationAssertion( "RDO:9003993"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:266378004"^^xsd:string) "Sphenoidal sinus -acute"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13046"^^xsd:string) AnnotationAssertion(rdfs:label "acute sphenoidal sinusitis"^^xsd:string) SubClassOf( ) # Class: (corpus luteum cyst) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971"^^xsd:string) "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:620.1"^^xsd:string) AnnotationAssertion( "corpus luteum cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13050"^^xsd:string) AnnotationAssertion(rdfs:label "corpus luteum cyst"^^xsd:string) SubClassOf( ) # Class: (traumatic glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/"^^xsd:string) "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.65"^^xsd:string) AnnotationAssertion( "glaucoma associated with ocular trauma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13060"^^xsd:string) AnnotationAssertion(rdfs:label "traumatic glaucoma"^^xsd:string) SubClassOf( ) # Class: (renal osteodystrophy) AnnotationAssertion(Annotation( "MESH:D012080"^^xsd:string) "Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders."^^xsd:string) AnnotationAssertion( "EFO:1001152"^^xsd:string) AnnotationAssertion( "ICD10CM:N25.0"^^xsd:string) AnnotationAssertion( "ICD9CM:588.0"^^xsd:string) AnnotationAssertion( "MESH:D012080"^^xsd:string) AnnotationAssertion( "NCI:C114827"^^xsd:string) AnnotationAssertion( "CKD-MBD"^^xsd:string) AnnotationAssertion( "Chronic kidney disease-mineral and bone disorder"^^xsd:string) AnnotationAssertion( "renal osteodystrophies"^^xsd:string) AnnotationAssertion( "renal rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13068"^^xsd:string) AnnotationAssertion(rdfs:label "renal osteodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dementia) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm"^^xsd:string) "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003862"^^xsd:string) AnnotationAssertion( "ICD9CM:290.8"^^xsd:string) AnnotationAssertion( "MESH:D003704"^^xsd:string) AnnotationAssertion( "MONDO:0001627"^^xsd:string) AnnotationAssertion( "Amentia"^^xsd:string) AnnotationAssertion( "Familial Dementia"^^xsd:string) AnnotationAssertion( "Familial Dementias"^^xsd:string) AnnotationAssertion( "amentias"^^xsd:string) AnnotationAssertion( "dementias"^^xsd:string) AnnotationAssertion( "senile paranoid dementia"^^xsd:string) AnnotationAssertion( "senile paranoid dementias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1307"^^xsd:string) AnnotationAssertion(rdfs:label "dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acquired hyperkeratosis) AnnotationAssertion( "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000663"^^xsd:string) AnnotationAssertion( "ICD9CM:701.1"^^xsd:string) AnnotationAssertion( "NCI:C34746"^^xsd:string) AnnotationAssertion( "acquired keratoderma"^^xsd:string) AnnotationAssertion( "acquired keratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13072"^^xsd:string) AnnotationAssertion(rdfs:label "acquired hyperkeratosis"^^xsd:string) SubClassOf( ) # Class: (tinea unguium) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nail_disease"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Onychomycosis"^^xsd:string) "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:681.9"^^xsd:string) AnnotationAssertion( "MESH:D014009"^^xsd:string) AnnotationAssertion( "Onychomycoses"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of buttock"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of face"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of finger"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of finger and toe"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of gluteal region"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of trunk"^^xsd:string) AnnotationAssertion( "cellulitis and abscess of upper arm and forearm"^^xsd:string) AnnotationAssertion( "dermatophytic onychia"^^xsd:string) AnnotationAssertion( "dermatophytic onychomycosis"^^xsd:string) AnnotationAssertion( "dermatophytosis of nail"^^xsd:string) AnnotationAssertion( "nail fungus"^^xsd:string) AnnotationAssertion( "onychomycosis"^^xsd:string) AnnotationAssertion( "onychomycosis due to dermatophyte"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cellulitis and abscess"^^xsd:string) AnnotationAssertion( "DOID:13074"^^xsd:string) AnnotationAssertion(rdfs:label "tinea unguium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eumycotic mycetoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Maduromycosis"^^xsd:string) Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html"^^xsd:string) "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007265"^^xsd:string) AnnotationAssertion( "ICD10CM:B47"^^xsd:string) AnnotationAssertion( "MESH:D008271"^^xsd:string) AnnotationAssertion( "NCI:C85505"^^xsd:string) AnnotationAssertion( "Eumycetoma"^^xsd:string) AnnotationAssertion( "Eumycetomas"^^xsd:string) AnnotationAssertion( "Madura Foot"^^xsd:string) AnnotationAssertion( "Maduromycoses"^^xsd:string) AnnotationAssertion( "Maduromycosis"^^xsd:string) AnnotationAssertion( "actinomycetoma"^^xsd:string) AnnotationAssertion( "actinomycetomas"^^xsd:string) AnnotationAssertion( "mycetoma"^^xsd:string) AnnotationAssertion( "mycetomas"^^xsd:string) AnnotationAssertion( "mycotic maduromycosis"^^xsd:string) AnnotationAssertion( "mycotic mycetoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13078"^^xsd:string) AnnotationAssertion(rdfs:label "eumycotic mycetoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Jaccoud's syndrome) AnnotationAssertion(Annotation( "https://ard.bmj.com/content/57/9/540"^^xsd:string) Annotation( "https://radiopaedia.org/articles/jaccoud-arthropathy"^^xsd:string) "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.0"^^xsd:string) AnnotationAssertion( "ICD9CM:714.4"^^xsd:string) AnnotationAssertion( "Jaccoud syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13080"^^xsd:string) AnnotationAssertion(rdfs:label "Jaccoud's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemangioma of subcutaneous tissue) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000707"^^xsd:string) AnnotationAssertion( "NCI:C8540"^^xsd:string) AnnotationAssertion( "RDO:9004222"^^xsd:string) AnnotationAssertion( "angioma of the subcutaneous tissue"^^xsd:string) AnnotationAssertion( "subcutaneous haemangioma"^^xsd:string) AnnotationAssertion( "subcutaneous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13081"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of subcutaneous tissue"^^xsd:string) SubClassOf( ) # Class: (Lown-Ganong-Levine syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome"^^xsd:string) "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108950"^^xsd:string) AnnotationAssertion( "ICD10CM:I45.6"^^xsd:string) AnnotationAssertion( "ICD9CM:426.81"^^xsd:string) AnnotationAssertion( "MESH:D008151"^^xsd:string) AnnotationAssertion( "ORDO:844"^^xsd:string) AnnotationAssertion( "short PR, normal QRS complex syndrome"^^xsd:string) AnnotationAssertion( "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13087"^^xsd:string) AnnotationAssertion(rdfs:label "Lown-Ganong-Levine syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periventricular leukomalacia) AnnotationAssertion(Annotation( "MESH:D007969"^^xsd:string) "Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)"^^xsd:string) AnnotationAssertion( "EFO:1001101"^^xsd:string) AnnotationAssertion( "GARD:10285"^^xsd:string) AnnotationAssertion( "ICD10CM:P91.2"^^xsd:string) AnnotationAssertion( "ICD9CM:779.7"^^xsd:string) AnnotationAssertion( "MESH:D007969"^^xsd:string) AnnotationAssertion( "NCI:C99013"^^xsd:string) AnnotationAssertion( "Cystic Periventricular Leukomalacia"^^xsd:string) AnnotationAssertion( "Neonatal Cerebral Leukomalacia"^^xsd:string) AnnotationAssertion( "Neonatal Cerebral Leukomalacias"^^xsd:string) AnnotationAssertion( "Periventricular Encephalomalacia"^^xsd:string) AnnotationAssertion( "Periventricular Encephalomalacias"^^xsd:string) AnnotationAssertion( "Periventricular Leucomalacia"^^xsd:string) AnnotationAssertion( "Periventricular Leucomalacias"^^xsd:string) AnnotationAssertion( "cystic periventricular leukomalacias"^^xsd:string) AnnotationAssertion( "periventricular leukomalacias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13088"^^xsd:string) AnnotationAssertion(rdfs:label "periventricular leukomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial arterial disease) AnnotationAssertion(Annotation( "MESH:D020765"^^xsd:string) "Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes."^^xsd:string) AnnotationAssertion( "EFO:1000990"^^xsd:string) AnnotationAssertion( "MESH:D020765"^^xsd:string) AnnotationAssertion( "RDO:0005158"^^xsd:string) AnnotationAssertion( "Arterial Brain Disease"^^xsd:string) AnnotationAssertion( "Arterial Brain Diseases"^^xsd:string) AnnotationAssertion( "Arterial Brain Disorder"^^xsd:string) AnnotationAssertion( "Arterial Brain Disorders"^^xsd:string) AnnotationAssertion( "Intracranial Arterial Disorder"^^xsd:string) AnnotationAssertion( "Intracranial Arterial Disorders"^^xsd:string) AnnotationAssertion( "intracranial arterial diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13089"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial arterial disease"^^xsd:string) SubClassOf( ) # Class: (branch retinal artery occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34.23"^^xsd:string) AnnotationAssertion( "ICD9CM:362.32"^^xsd:string) AnnotationAssertion( "NCI:C34436"^^xsd:string) AnnotationAssertion( "retinal arterial branch occlusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13094"^^xsd:string) AnnotationAssertion(rdfs:label "branch retinal artery occlusion"^^xsd:string) SubClassOf( ) # Class: (vertebral artery insufficiency) AnnotationAssertion( "vertebral artery insufficiencies"^^xsd:string) AnnotationAssertion( "vertebral artery ischemia"^^xsd:string) AnnotationAssertion( "vertebral artery ischemias"^^xsd:string) AnnotationAssertion( "vertebral artery stenoses"^^xsd:string) AnnotationAssertion( "vertebral artery stenosis"^^xsd:string) AnnotationAssertion( "vertebral artery syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13095"^^xsd:string) AnnotationAssertion(rdfs:label "vertebral artery insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sneddon syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25075847/"^^xsd:string) "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:182410"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF ADENOSINE DEAMINASE 2"^^xsd:string) AnnotationAssertion( "EFO:1001186"^^xsd:string) AnnotationAssertion( "GARD:7664"^^xsd:string) AnnotationAssertion( "MESH:D018860"^^xsd:string) AnnotationAssertion( "MONDO:0008436"^^xsd:string) AnnotationAssertion( "ORDO:820"^^xsd:string) AnnotationAssertion( "Ehrmann-Sneddon syndrome"^^xsd:string) AnnotationAssertion( "SNDNS"^^xsd:string) AnnotationAssertion( "Sneddon Champion syndrome"^^xsd:string) AnnotationAssertion( "idiopathic livedo reticularis with systemic involvement"^^xsd:string) AnnotationAssertion( "livedo racemosa-cerebrovascular accident syndrome"^^xsd:string) AnnotationAssertion( "livedo reticularis and cerebrovascular accidents"^^xsd:string) AnnotationAssertion( "livedo reticularis, systemic involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13096"^^xsd:string) AnnotationAssertion(rdfs:label "Sneddon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial arteriosclerosis) AnnotationAssertion(Annotation( "MESH:D002537"^^xsd:string) "Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS."^^xsd:string) AnnotationAssertion( "RDO:0005160"^^xsd:string) AnnotationAssertion( "MESH:D002537"^^xsd:string) AnnotationAssertion( "Cerebral Arterioscleroses"^^xsd:string) AnnotationAssertion( "Cerebral Arteriosclerosis"^^xsd:string) AnnotationAssertion( "Intracranial Arterioscleroses"^^xsd:string) AnnotationAssertion( "intracranial atheroscleroses"^^xsd:string) AnnotationAssertion( "intracranial atherosclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13097"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial arteriosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central retinal artery occlusion) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion"^^xsd:string) "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34.1"^^xsd:string) AnnotationAssertion( "ICD9CM:362.31"^^xsd:string) AnnotationAssertion( "NCI:C34456"^^xsd:string) AnnotationAssertion( "RDO:9002782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13098"^^xsd:string) AnnotationAssertion(rdfs:label "central retinal artery occlusion"^^xsd:string) SubClassOf( ) # Class: (Moyamoya disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Moyamoya_disease"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1"^^xsd:string) "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004250"^^xsd:string) AnnotationAssertion( "GARD:7064"^^xsd:string) AnnotationAssertion( "ICD10CM:I67.5"^^xsd:string) AnnotationAssertion( "ICD9CM:437.5"^^xsd:string) AnnotationAssertion( "MESH:D009072"^^xsd:string) AnnotationAssertion( "MIM:PS252350"^^xsd:string) AnnotationAssertion( "MONDO:0016820"^^xsd:string) AnnotationAssertion( "NCI:C84895"^^xsd:string) AnnotationAssertion( "ORDO:2573"^^xsd:string) AnnotationAssertion( "ORDO:280679"^^xsd:string) AnnotationAssertion( "ORDO:401945"^^xsd:string) AnnotationAssertion( "MYMY"^^xsd:string) AnnotationAssertion( "Moya Moya disease"^^xsd:string) AnnotationAssertion( "Moyamoya syndrome"^^xsd:string) AnnotationAssertion( "cerebrovascular Moyamoya disease"^^xsd:string) AnnotationAssertion( "classic Moyamoya disease"^^xsd:string) AnnotationAssertion( "primary Moyamoya disease"^^xsd:string) AnnotationAssertion( "primary Moyamoya diseases"^^xsd:string) AnnotationAssertion( "progressive intracranial arterial occlusion"^^xsd:string) AnnotationAssertion( "progressive intracranial occlusive arteropathy (Moyamoya)"^^xsd:string) AnnotationAssertion( "secondary Moyamoya disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13099"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial vasospasm) AnnotationAssertion(Annotation( "MESH:D020301"^^xsd:string) "Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)."^^xsd:string) AnnotationAssertion( "EFO:1000994"^^xsd:string) AnnotationAssertion( "MESH:D020301"^^xsd:string) AnnotationAssertion( "Cerebral Angiospasm"^^xsd:string) AnnotationAssertion( "Cerebral Artery Spasm"^^xsd:string) AnnotationAssertion( "Cerebral Artery Spasms"^^xsd:string) AnnotationAssertion( "Cerebral Vasospasm"^^xsd:string) AnnotationAssertion( "Cerebral Vasospasms"^^xsd:string) AnnotationAssertion( "Cerebrovascular Spasm"^^xsd:string) AnnotationAssertion( "Cerebrovascular Spasms"^^xsd:string) AnnotationAssertion( "Intracranial Angiospasm"^^xsd:string) AnnotationAssertion( "Intracranial Angiospasms"^^xsd:string) AnnotationAssertion( "Intracranial Vascular Spasm"^^xsd:string) AnnotationAssertion( "Intracranial Vascular Spasms"^^xsd:string) AnnotationAssertion( "cerebral angiospasms"^^xsd:string) AnnotationAssertion( "intracranial vasospasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13100"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial vasospasm"^^xsd:string) SubClassOf( ) # Class: (bladder leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/"^^xsd:string) "A bladder benign neoplasm that derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6178"^^xsd:string) AnnotationAssertion( "RDO:9003328"^^xsd:string) AnnotationAssertion( "leiomyoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13109"^^xsd:string) AnnotationAssertion(rdfs:label "bladder leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder squamous papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39834"^^xsd:string) AnnotationAssertion( "RDO:9005052"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13110"^^xsd:string) AnnotationAssertion(rdfs:label "bladder squamous papilloma"^^xsd:string) SubClassOf( ) # Class: (mechanical entropion) AnnotationAssertion( "ICD9CM:374.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13112"^^xsd:string) AnnotationAssertion(rdfs:label "mechanical entropion"^^xsd:string) SubClassOf( ) # Class: (cicatricial entropion) AnnotationAssertion( "ICD9CM:374.04"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13113"^^xsd:string) AnnotationAssertion(rdfs:label "cicatricial entropion"^^xsd:string) SubClassOf( ) # Class: (paronychia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Paronychia"^^xsd:string) "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007421"^^xsd:string) AnnotationAssertion( "ICD10CM:L03.0"^^xsd:string) AnnotationAssertion( "MESH:D010304"^^xsd:string) AnnotationAssertion( "NCI:C79702"^^xsd:string) AnnotationAssertion( "Onychia and paronychia of finger"^^xsd:string) AnnotationAssertion( "Onychia and paronychia of toe"^^xsd:string) AnnotationAssertion( "Paronychias"^^xsd:string) AnnotationAssertion( "fungal nail infection"^^xsd:string) AnnotationAssertion( "infected nailfold"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "paronychia inflammation"^^xsd:string) AnnotationAssertion( "DOID:13117"^^xsd:string) AnnotationAssertion(rdfs:label "paronychia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (focal segmental glomerulosclerosis) AnnotationAssertion(Annotation( "MESH:D005923"^^xsd:string) "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE."^^xsd:string) AnnotationAssertion( "EFO:0004236"^^xsd:string) AnnotationAssertion( "GARD:6517"^^xsd:string) AnnotationAssertion( "MESH:D005923"^^xsd:string) AnnotationAssertion( "MIM:PS603278"^^xsd:string) AnnotationAssertion( "NCI:C37308"^^xsd:string) AnnotationAssertion( "FGS"^^xsd:string) AnnotationAssertion( "FSGS"^^xsd:string) AnnotationAssertion( "Focal Glomerulosclerosis"^^xsd:string) AnnotationAssertion( "Focal Sclerosing Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Focal Sclerosing Glomerulonephritis"^^xsd:string) AnnotationAssertion( "Segmental Glomerular Hyalinosis"^^xsd:string) AnnotationAssertion( "Segmental Hyalinosis"^^xsd:string) AnnotationAssertion( "focal glomerular sclerosis"^^xsd:string) AnnotationAssertion( "FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1312"^^xsd:string) AnnotationAssertion(rdfs:label "focal segmental glomerulosclerosis"^^xsd:string) SubClassOf( ) # Class: (protein-deficiency anemia) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21"^^xsd:string) "A nutritional deficiency disease that is characterized by inadequate protein intake. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:13121"^^xsd:string) AnnotationAssertion( "ICD10CM:D53.0"^^xsd:string) AnnotationAssertion( "ICD9CM:281.4"^^xsd:string) AnnotationAssertion( "MONDO:0001638"^^xsd:string) AnnotationAssertion( "anemia due to protein deficiency"^^xsd:string) AnnotationAssertion( "deficiency anemia"^^xsd:string) AnnotationAssertion( "deficiency anemias"^^xsd:string) AnnotationAssertion( "protein-deficiency anaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13120"^^xsd:string) AnnotationAssertion(rdfs:label "protein-deficiency anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (gonococcal spondylitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13127"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal spondylitis"^^xsd:string) SubClassOf( ) # Class: (severe pre-eclampsia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25373431"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28793357"^^xsd:string) "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:642.50"^^xsd:string) AnnotationAssertion( "antepartum severe pre-eclampsia"^^xsd:string) AnnotationAssertion( "postpartum severe pre-eclampsia"^^xsd:string) AnnotationAssertion( "severe pre-eclampsia, with delivery"^^xsd:string) AnnotationAssertion( "severe preeclampsia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13129"^^xsd:string) AnnotationAssertion(rdfs:label "severe pre-eclampsia"^^xsd:string) SubClassOf( ) # Class: (HELLP syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25879992"^^xsd:string) "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007297"^^xsd:string) AnnotationAssertion( "GARD:8528"^^xsd:string) AnnotationAssertion( "ICD10CM:O14.2"^^xsd:string) AnnotationAssertion( "MESH:D017359"^^xsd:string) AnnotationAssertion( "NCI:C84750"^^xsd:string) AnnotationAssertion( "hemolysis, elevated liver enzymes, lowered platelets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13133"^^xsd:string) AnnotationAssertion(rdfs:label "HELLP syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hordeolum externum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stye"^^xsd:string) "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H00.01"^^xsd:string) AnnotationAssertion( "ICD9CM:373.11"^^xsd:string) AnnotationAssertion( "external stye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13134"^^xsd:string) AnnotationAssertion(rdfs:label "hordeolum externum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (exophthalmic ophthalmoplegia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:376.22"^^xsd:string) AnnotationAssertion( "RDO:9003017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13135"^^xsd:string) AnnotationAssertion(rdfs:label "exophthalmic ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Werdnig-Hoffmann disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541"^^xsd:string) "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7883"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.0"^^xsd:string) AnnotationAssertion( "ICD9CM:335.0"^^xsd:string) AnnotationAssertion( "MIM:253300"^^xsd:string) AnnotationAssertion( "NCI:C98670"^^xsd:string) AnnotationAssertion( "HMN (hereditary motor neuropathy) proximal type I"^^xsd:string) AnnotationAssertion( "SMA I"^^xsd:string) AnnotationAssertion( "SMA, infantile acute form"^^xsd:string) AnnotationAssertion( "SMA1"^^xsd:string) AnnotationAssertion( "Werdnig-Hoffman disease"^^xsd:string) AnnotationAssertion( "acute spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "hereditary motor neuropathy proximal type I"^^xsd:string) AnnotationAssertion( "infantile muscular atrophy"^^xsd:string) AnnotationAssertion( "infantile spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "progressive muscular atrophy of infancy"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy type 1"^^xsd:string) AnnotationAssertion( "spinal muscular atrophy type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13137"^^xsd:string) AnnotationAssertion(rdfs:label "Werdnig-Hoffmann disease"^^xsd:string) SubClassOf( ) # Class: (acute proliferative glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:580.0"^^xsd:string) AnnotationAssertion( "acute glomerulonephritis with lesion of proliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13138"^^xsd:string) AnnotationAssertion(rdfs:label "acute proliferative glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (crescentic glomerulonephritis) AnnotationAssertion( "A syndrome of the kidney that is characterized by a rapid loss of renal function involving severe injury to the kidneys' glomeruli, with many of the glomeruli containing characteristic glomerular crescents (crescent-shaped scars)."^^xsd:string) AnnotationAssertion( "NCI:C128143"^^xsd:string) AnnotationAssertion( "NCI:C35444"^^xsd:string) AnnotationAssertion( "RPGN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NCGN"^^xsd:string) AnnotationAssertion( "necrotizing crescentic glomerulonephritis"^^xsd:string) AnnotationAssertion( "DOID:13139"^^xsd:string) AnnotationAssertion(rdfs:label "crescentic glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (suppurative uveitis) AnnotationAssertion(Annotation( "https://www.djo.org.in/articles/26/4/uveitis-classification1.html"^^xsd:string) Annotation( "https://www.slideshare.net/Jihajie/uveitis-56740528"^^xsd:string) "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001203"^^xsd:string) AnnotationAssertion( "MESH:D015829"^^xsd:string) AnnotationAssertion( "suppurative uveitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13140"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uveitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734"^^xsd:string) "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001231"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.9"^^xsd:string) AnnotationAssertion( "MESH:D014605"^^xsd:string) AnnotationAssertion( "NCI:C26909"^^xsd:string) AnnotationAssertion( "uveitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13141"^^xsd:string) AnnotationAssertion(rdfs:label "uveitis"^^xsd:string) SubClassOf( ) # Class: (benign secondary hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:405.1"^^xsd:string) AnnotationAssertion( "NCI:C3658"^^xsd:string) AnnotationAssertion( "RDO:9001820"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13143"^^xsd:string) AnnotationAssertion(rdfs:label "benign secondary hypertension"^^xsd:string) SubClassOf( ) # Class: (benign renovascular hypertension) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000204.htm"^^xsd:string) "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:405.11"^^xsd:string) AnnotationAssertion( "RDO:9003036"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13145"^^xsd:string) AnnotationAssertion(rdfs:label "benign renovascular hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophageal candidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Esophageal_candidiasis"^^xsd:string) "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B37.81"^^xsd:string) AnnotationAssertion( "ICD9CM:112.84"^^xsd:string) AnnotationAssertion( "NCI:C27027"^^xsd:string) AnnotationAssertion( "candida esophagitis"^^xsd:string) AnnotationAssertion( "candidal esophagitis"^^xsd:string) AnnotationAssertion( "candidiasis of the esophagus"^^xsd:string) AnnotationAssertion( "esophageal moniliasis"^^xsd:string) AnnotationAssertion( "esophageal thrush"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13146"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fungal esophagitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001649"^^xsd:string) AnnotationAssertion( "NCI:C27107"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13147"^^xsd:string) AnnotationAssertion(rdfs:label "fungal esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute cystitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urinary_tract_infection"^^xsd:string) "A cystitis characterized by a sudden onset or severe symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:595.0"^^xsd:string) AnnotationAssertion( "NCI:C26934"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13148"^^xsd:string) AnnotationAssertion(rdfs:label "acute cystitis"^^xsd:string) SubClassOf( ) # Class: (scrotum squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26113906"^^xsd:string) "A squamous cell carcinoma that is located_in the scrotum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4643"^^xsd:string) AnnotationAssertion( "scrotal squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13159"^^xsd:string) AnnotationAssertion(rdfs:label "scrotum squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scrotum melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7361"^^xsd:string) AnnotationAssertion( "RDO:9001847"^^xsd:string) AnnotationAssertion( "melanoma of scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13160"^^xsd:string) AnnotationAssertion(rdfs:label "scrotum melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (allergic bronchopulmonary aspergillosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch051/ch051d.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm"^^xsd:string) "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103920"^^xsd:string) AnnotationAssertion( "EFO:0007140"^^xsd:string) AnnotationAssertion( "GARD:602"^^xsd:string) AnnotationAssertion( "ICD10CM:B44.81"^^xsd:string) AnnotationAssertion( "ICD9CM:518.6"^^xsd:string) AnnotationAssertion( "MESH:D001229"^^xsd:string) AnnotationAssertion( "NCI:C84547"^^xsd:string) AnnotationAssertion( "allergic bronchopulmonary aspergilloses"^^xsd:string) AnnotationAssertion( "pulmonary aspergillus disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13166"^^xsd:string) AnnotationAssertion(rdfs:label "allergic bronchopulmonary aspergillosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prepuce cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C60.0"^^xsd:string) AnnotationAssertion( "ICD9CM:187.1"^^xsd:string) AnnotationAssertion( "malignant neoplasm of foreskin"^^xsd:string) AnnotationAssertion( "malignant tumor of foreskin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13168"^^xsd:string) AnnotationAssertion(rdfs:label "prepuce cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatic cord cancer) AnnotationAssertion( "malignant tumor of spermatic cord"^^xsd:string) AnnotationAssertion( "ICD10CM:C63.1"^^xsd:string) AnnotationAssertion( "ICD9CM:187.6"^^xsd:string) AnnotationAssertion( "NCI:C3559"^^xsd:string) AnnotationAssertion( "Spermatic cord Ca"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363453008"^^xsd:string) "malignant tumor of spermatic cord"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3559"^^xsd:string) "malignant tumor of the Spermatic Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13169"^^xsd:string) AnnotationAssertion(rdfs:label "spermatic cord cancer"^^xsd:string) SubClassOf( ) # Class: (dissociated nystagmus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H55.04"^^xsd:string) AnnotationAssertion( "ICD9CM:379.55"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13174"^^xsd:string) AnnotationAssertion(rdfs:label "dissociated nystagmus"^^xsd:string) SubClassOf( ) # Class: (esophageal diverticulosis) AnnotationAssertion(Annotation( "MESH:D045723"^^xsd:string) "A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS."^^xsd:string) AnnotationAssertion( "EFO:1000930"^^xsd:string) AnnotationAssertion( "MESH:D045723"^^xsd:string) AnnotationAssertion( "RDO:0007516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13185"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal diverticulosis"^^xsd:string) SubClassOf( ) # Class: (megaesophagus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001656"^^xsd:string) AnnotationAssertion( "NCI:C34811"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13186"^^xsd:string) AnnotationAssertion(rdfs:label "megaesophagus"^^xsd:string) SubClassOf( ) # Class: (gout) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gout"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/gout/DS00090"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm"^^xsd:string) "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "MIM:138900"^^xsd:string) AnnotationAssertion( "MIM:612671"^^xsd:string) AnnotationAssertion( "DOID:9006213"^^xsd:string) AnnotationAssertion( "EFO:0004274"^^xsd:string) AnnotationAssertion( "EFO:0021525"^^xsd:string) AnnotationAssertion( "ICD10CM:M10"^^xsd:string) AnnotationAssertion( "ICD9CM:274"^^xsd:string) AnnotationAssertion( "ICD9CM:274.0"^^xsd:string) AnnotationAssertion( "MESH:C566013"^^xsd:string) AnnotationAssertion( "MESH:D006073"^^xsd:string) AnnotationAssertion( "MIM:191530"^^xsd:string) AnnotationAssertion( "NCI:C34650"^^xsd:string) AnnotationAssertion( "Gouts"^^xsd:string) AnnotationAssertion( "articular gout"^^xsd:string) AnnotationAssertion( "renal overload-type gout"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GOUT SUSCEPTIBILITY 1"^^xsd:string) AnnotationAssertion( "GOUT SUSCEPTIBILITY 4"^^xsd:string) AnnotationAssertion( "GOUT1"^^xsd:string) AnnotationAssertion( "GOUT4"^^xsd:string) AnnotationAssertion( "Urate-Binding Globulin, Decrease in"^^xsd:string) AnnotationAssertion( "gouty arthropathy"^^xsd:string) AnnotationAssertion( "DOID:13189"^^xsd:string) AnnotationAssertion(rdfs:label "gout"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=387264"^^xsd:string) "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C71"^^xsd:string) AnnotationAssertion( "ICD9CM:191"^^xsd:string) AnnotationAssertion( "ICD9CM:239.6"^^xsd:string) AnnotationAssertion( "NCI:C170814"^^xsd:string) AnnotationAssertion( "NCI:C2907"^^xsd:string) AnnotationAssertion( "NCI:C3568"^^xsd:string) AnnotationAssertion( "NCI:C5115"^^xsd:string) AnnotationAssertion( "NCI:C7710"^^xsd:string) AnnotationAssertion( "BT - brain tumour"^^xsd:string) AnnotationAssertion( "adult brain tumor"^^xsd:string) AnnotationAssertion( "adult malignant brain neoplasm"^^xsd:string) AnnotationAssertion( "brain cancers"^^xsd:string) AnnotationAssertion( "brain neoplasm, adult"^^xsd:string) AnnotationAssertion( "cancer of brain"^^xsd:string) AnnotationAssertion( "malignant brain tumour"^^xsd:string) AnnotationAssertion( "malignant primary brain neoplasm"^^xsd:string) AnnotationAssertion( "malignant primary brain tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of adult brain"^^xsd:string) AnnotationAssertion( "malignant tumor of brain"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of brain"^^xsd:string) AnnotationAssertion( "tumor of the brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1319"^^xsd:string) AnnotationAssertion(rdfs:label "brain cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nontoxic goiter) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E04.9"^^xsd:string) AnnotationAssertion( "NCI:C35271"^^xsd:string) AnnotationAssertion( "Nodule-thyroid, non tox"^^xsd:string) AnnotationAssertion( "non-toxic goiter"^^xsd:string) AnnotationAssertion( "non-toxic goitre"^^xsd:string) AnnotationAssertion( "non-toxic simple goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13195"^^xsd:string) AnnotationAssertion(rdfs:label "nontoxic goiter"^^xsd:string) SubClassOf( ) # Class: (lingual goiter) AnnotationAssertion(Annotation( "MESH:D047268"^^xsd:string) "Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms."^^xsd:string) AnnotationAssertion( "EFO:1001018"^^xsd:string) AnnotationAssertion( "MESH:D047268"^^xsd:string) AnnotationAssertion( "lingual goiters"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13196"^^xsd:string) AnnotationAssertion(rdfs:label "lingual goiter"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodular goiter) AnnotationAssertion(Annotation( "MESH:D006044"^^xsd:string) "An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS."^^xsd:string) AnnotationAssertion( "RDO:0001381"^^xsd:string) AnnotationAssertion( "EFO:1001062"^^xsd:string) AnnotationAssertion( "MESH:D006044"^^xsd:string) AnnotationAssertion( "NCI:C131437"^^xsd:string) AnnotationAssertion( "Nodular Goiters"^^xsd:string) AnnotationAssertion( "nodular goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13197"^^xsd:string) AnnotationAssertion(rdfs:label "nodular goiter"^^xsd:string) SubClassOf( ) # Class: (endemic goiter) AnnotationAssertion(Annotation( "https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html"^^xsd:string) "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000916"^^xsd:string) AnnotationAssertion( "ICD10CM:E01.2"^^xsd:string) AnnotationAssertion( "ICD9CM:240.0"^^xsd:string) AnnotationAssertion( "MESH:D006043"^^xsd:string) AnnotationAssertion( "NCI:C35023"^^xsd:string) AnnotationAssertion( "Iodine-deficiency-related endemic goitre"^^xsd:string) AnnotationAssertion( "endemic goiters"^^xsd:string) AnnotationAssertion( "simple goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13198"^^xsd:string) AnnotationAssertion(rdfs:label "endemic goiter"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (substernal goiter) AnnotationAssertion(Annotation( "MESH:D006045"^^xsd:string) "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms."^^xsd:string) AnnotationAssertion( "EFO:1001198"^^xsd:string) AnnotationAssertion( "MESH:D006045"^^xsd:string) AnnotationAssertion( "Intrathoracic Goiter"^^xsd:string) AnnotationAssertion( "Intrathoracic Goiters"^^xsd:string) AnnotationAssertion( "Retrosternal thyroid goitre"^^xsd:string) AnnotationAssertion( "Substernal Goiters"^^xsd:string) AnnotationAssertion( "retrosternal thyroid goiter"^^xsd:string) AnnotationAssertion( "substernal goitre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13200"^^xsd:string) AnnotationAssertion(rdfs:label "substernal goiter"^^xsd:string) SubClassOf( ) # Class: (nodular prostate) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N40"^^xsd:string) AnnotationAssertion( "ICD9CM:600.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13206"^^xsd:string) AnnotationAssertion(rdfs:label "nodular prostate"^^xsd:string) SubClassOf( ) # Class: (proliferative diabetic retinopathy) AnnotationAssertion( "This advanced, severe stage of diabetic retinopathy mainly occurs when many of the blood vessels in the retina close, preventing sufficient blood flow. In an attempt to supply blood to the area where the original vessels closed, the retina responds by growing new blood vessels, which is called neovascularization."^^xsd:string) AnnotationAssertion( "EFO:0009322"^^xsd:string) AnnotationAssertion( "ICD9CM:362.02"^^xsd:string) AnnotationAssertion( "MONDO:0001660"^^xsd:string) AnnotationAssertion( "NCI:C84457"^^xsd:string) AnnotationAssertion( "High risk PDR"^^xsd:string) AnnotationAssertion( "High risk proliferative diabetic retinopathy"^^xsd:string) AnnotationAssertion( "High risk proliferative retinopathy"^^xsd:string) AnnotationAssertion( "PDR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13207"^^xsd:string) AnnotationAssertion(rdfs:label "proliferative diabetic retinopathy"^^xsd:string) SubClassOf( ) # Class: (background diabetic retinopathy) AnnotationAssertion( "This is the earliest stage of diabetic retinopathy, which involves damaged blood vessels in the retina beginning to leak extra fluid and small amounts of blood into the eye."^^xsd:string) AnnotationAssertion( "EFO:0009760"^^xsd:string) AnnotationAssertion( "ICD9CM:362.03"^^xsd:string) AnnotationAssertion( "NCI:C35668"^^xsd:string) AnnotationAssertion( "RDO:9000105"^^xsd:string) AnnotationAssertion( "BDR"^^xsd:string) AnnotationAssertion( "NPDR"^^xsd:string) AnnotationAssertion( "Non proliferative diabetic retinopathy"^^xsd:string) AnnotationAssertion( "nonproliferative diabetic retinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13208"^^xsd:string) AnnotationAssertion(rdfs:label "background diabetic retinopathy"^^xsd:string) SubClassOf( ) # Class: (right bundle branch block) AnnotationAssertion( "ICD9CM:426.51"^^xsd:string) AnnotationAssertion( "right bundle branch block with left posterior fascicular block"^^xsd:string) AnnotationAssertion( "right bundle branch blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13209"^^xsd:string) AnnotationAssertion(rdfs:label "right bundle branch block"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hole retinal cyst) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.34"^^xsd:string) AnnotationAssertion( "ICD9CM:362.54"^^xsd:string) AnnotationAssertion( "Macular cyst or hole"^^xsd:string) AnnotationAssertion( "Macular cyst, hole, or pseudohole of retina"^^xsd:string) AnnotationAssertion( "Macular pseudohole retinal cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13214"^^xsd:string) AnnotationAssertion(rdfs:label "hole retinal cyst"^^xsd:string) SubClassOf( ) # Class: (submucous uterine fibroid) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25177608"^^xsd:string) "An uterine fibroid that is located adjacent to the lining of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D25.0"^^xsd:string) AnnotationAssertion( "ICD9CM:218.0"^^xsd:string) AnnotationAssertion( "submucous leiomyoma of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13222"^^xsd:string) AnnotationAssertion(rdfs:label "submucous uterine fibroid"^^xsd:string) SubClassOf( ) # Class: (uterine fibroid) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Uterine_fibroid"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/uterinefibroids.html"^^xsd:string) "An uterine benign neoplasm derived from the smooth muscle layer of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000731"^^xsd:string) AnnotationAssertion( "ICD10CM:D25"^^xsd:string) AnnotationAssertion( "ICD9CM:218"^^xsd:string) AnnotationAssertion( "MIM:150699"^^xsd:string) AnnotationAssertion( "NCI:C3434"^^xsd:string) AnnotationAssertion( "UL"^^xsd:string) AnnotationAssertion( "leiomyoma of corpus uteri"^^xsd:string) AnnotationAssertion( "plexiform leiomyoma"^^xsd:string) AnnotationAssertion( "uterine fibroids"^^xsd:string) AnnotationAssertion( "uterine leiomyoma"^^xsd:string) AnnotationAssertion( "uterus fibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13223"^^xsd:string) AnnotationAssertion(rdfs:label "uterine fibroid"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oculoglandular tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string) "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A21.1"^^xsd:string) AnnotationAssertion( "ICD9CM:021.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13226"^^xsd:string) AnnotationAssertion(rdfs:label "oculoglandular tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal dystrophies primarily involving Bruch's membrane) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.77"^^xsd:string) AnnotationAssertion( "RDO:9002923"^^xsd:string) AnnotationAssertion( "retinal dystrophies primarily involving Bruch membrane"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13227"^^xsd:string) AnnotationAssertion(rdfs:label "retinal dystrophies primarily involving Bruch's membrane"^^xsd:string) SubClassOf( ) # Class: (Haverhill fever) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Haverhill_fever"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A25.1"^^xsd:string) AnnotationAssertion( "ICD9CM:026.1"^^xsd:string) AnnotationAssertion( "streptobacillary fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Streptobacillary rat-bite fever"^^xsd:string) AnnotationAssertion( "Streptobacillosis"^^xsd:string) AnnotationAssertion( "DOID:13238"^^xsd:string) AnnotationAssertion(rdfs:label "Haverhill fever"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (internal pathological resorption) AnnotationAssertion( "ICD9CM:521.41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13239"^^xsd:string) AnnotationAssertion(rdfs:label "internal pathological resorption"^^xsd:string) SubClassOf( ) # Class: (lung cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lung_cancer"^^xsd:string) "A respiratory system cancer that is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:211980"^^xsd:string) AnnotationAssertion( "MIM:608935"^^xsd:string) AnnotationAssertion( "MIM:612052"^^xsd:string) AnnotationAssertion( "MIM:612571"^^xsd:string) AnnotationAssertion( "MIM:612593"^^xsd:string) AnnotationAssertion( "MIM:614210"^^xsd:string) AnnotationAssertion( "CHRNA3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EGFR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:C34.1"^^xsd:string) AnnotationAssertion( "ICD10CM:C34.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C34.3"^^xsd:string) AnnotationAssertion( "ICD9CM:162.3"^^xsd:string) AnnotationAssertion( "ICD9CM:162.4"^^xsd:string) AnnotationAssertion( "ICD9CM:162.5"^^xsd:string) AnnotationAssertion( "ICD9CM:162.8"^^xsd:string) AnnotationAssertion( "MONDO:0008903"^^xsd:string) AnnotationAssertion( "cancer of lung"^^xsd:string) AnnotationAssertion( "cancer of the lung"^^xsd:string) AnnotationAssertion( "lung cancers"^^xsd:string) AnnotationAssertion( "pulmonary cancer"^^xsd:string) AnnotationAssertion( "pulmonary cancers"^^xsd:string) AnnotationAssertion( "EGFR-RELATED LUNG CANCER"^^xsd:string) AnnotationAssertion( "adenocarcinoma of lung"^^xsd:string) AnnotationAssertion( "lung cancer, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic"^^xsd:string) AnnotationAssertion( "LNCR1"^^xsd:string) AnnotationAssertion( "LNCR2"^^xsd:string) AnnotationAssertion( "LNCR3"^^xsd:string) AnnotationAssertion( "LNCR4"^^xsd:string) AnnotationAssertion( "LNCR5"^^xsd:string) AnnotationAssertion( "LUNG CANCER, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "LUNG CANCER, PROTECTION AGAINST, IN SMOKERS"^^xsd:string) AnnotationAssertion( "lung cancer susceptibility 1"^^xsd:string) AnnotationAssertion( "lung cancer susceptibility 2"^^xsd:string) AnnotationAssertion( "lung cancer susceptibility 3"^^xsd:string) AnnotationAssertion( "lung cancer susceptibility 4"^^xsd:string) AnnotationAssertion( "lung cancer susceptibility 5"^^xsd:string) AnnotationAssertion( "lung cancer, susceptibility to"^^xsd:string) AnnotationAssertion( "nicotine dependence, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:1324"^^xsd:string) AnnotationAssertion(rdfs:label "lung cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tooth resorption) AnnotationAssertion( "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)"^^xsd:string) AnnotationAssertion( "ICD9CM:521.4"^^xsd:string) AnnotationAssertion( "MESH:D014091"^^xsd:string) AnnotationAssertion( "tooth resorptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13240"^^xsd:string) AnnotationAssertion(rdfs:label "tooth resorption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Behcet's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html"^^xsd:string) "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:109650"^^xsd:string) AnnotationAssertion( "EFO:0003780"^^xsd:string) AnnotationAssertion( "GARD:848"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.2"^^xsd:string) AnnotationAssertion( "ICD9CM:136.1"^^xsd:string) AnnotationAssertion( "MESH:D001528"^^xsd:string) AnnotationAssertion( "NCI:C34416"^^xsd:string) AnnotationAssertion( "Adamantiades Behcet Disease"^^xsd:string) AnnotationAssertion( "Adamantiades-Behcet Diseases"^^xsd:string) AnnotationAssertion( "BD"^^xsd:string) AnnotationAssertion( "Behcet Disease"^^xsd:string) AnnotationAssertion( "Behcet Syndrome"^^xsd:string) AnnotationAssertion( "Behcet Triple Symptom Complex"^^xsd:string) AnnotationAssertion( "Behcet's Syndrome"^^xsd:string) AnnotationAssertion( "Behcets Syndrome"^^xsd:string) AnnotationAssertion( "Behet's syndrome"^^xsd:string) AnnotationAssertion( "Behçet Disease"^^xsd:string) AnnotationAssertion( "Behçet Diseases"^^xsd:string) AnnotationAssertion( "Old Silk Route Disease"^^xsd:string) AnnotationAssertion( "triple symptom complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13241"^^xsd:string) AnnotationAssertion(rdfs:label "Behcet's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucocele of appendix) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3241"^^xsd:string) AnnotationAssertion( "appendicele mucocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13248"^^xsd:string) AnnotationAssertion(rdfs:label "mucocele of appendix"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pneumatosis cystoides intestinalis) AnnotationAssertion(Annotation( "MESH:D011006"^^xsd:string) "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM."^^xsd:string) AnnotationAssertion( "EFO:1001113"^^xsd:string) AnnotationAssertion( "MESH:D011006"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13249"^^xsd:string) AnnotationAssertion(rdfs:label "pneumatosis cystoides intestinalis"^^xsd:string) SubClassOf( ) # Class: (bronchus cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bronchus"^^xsd:string) "A respiratory system cancer that is located_in the bronchus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C34"^^xsd:string) AnnotationAssertion( "ICD9CM:162.9"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bronchus and lung"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bronchus and lung, unspecified"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bronchus or lung"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bronchus or lung, unspecified"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1325"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diarrhea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea"^^xsd:string) "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003967"^^xsd:string) AnnotationAssertion( "diarrheas"^^xsd:string) AnnotationAssertion( "diarrhoea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "diarrhea of presumed infectious origin"^^xsd:string) AnnotationAssertion( "DOID:13250"^^xsd:string) AnnotationAssertion(rdfs:label "diarrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mesenteric vascular occlusion) AnnotationAssertion(Annotation( "MESH:D008641"^^xsd:string) "Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)"^^xsd:string) AnnotationAssertion( "EFO:1001043"^^xsd:string) AnnotationAssertion( "MESH:D008641"^^xsd:string) AnnotationAssertion( "mesenteric vascular occlusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13252"^^xsd:string) AnnotationAssertion(rdfs:label "mesenteric vascular occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diverticulitis of colon) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Diverticulitis"^^xsd:string) "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004239"^^xsd:string) AnnotationAssertion( "colonic diverticular disease"^^xsd:string) AnnotationAssertion( "colonic diverticulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13254"^^xsd:string) AnnotationAssertion(rdfs:label "diverticulitis of colon"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (typhoid fever) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medlineplus/typhoid%20fever"^^xsd:string) "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006789"^^xsd:string) AnnotationAssertion( "GARD:9564"^^xsd:string) AnnotationAssertion( "ICD10CM:A01.0"^^xsd:string) AnnotationAssertion( "ICD9CM:002.0"^^xsd:string) AnnotationAssertion( "MESH:D014435"^^xsd:string) AnnotationAssertion( "NCI:C35089"^^xsd:string) AnnotationAssertion( "Abdominal Typhus"^^xsd:string) AnnotationAssertion( "Enteric Fever"^^xsd:string) AnnotationAssertion( "Typhoid"^^xsd:string) AnnotationAssertion( "Typhoid Fevers"^^xsd:string) AnnotationAssertion( "enteric fevers"^^xsd:string) AnnotationAssertion( "typhoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13258"^^xsd:string) AnnotationAssertion(rdfs:label "typhoid fever"^^xsd:string) SubClassOf( ) # Class: (porphyria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Porphyria#Subtypes"^^xsd:string) "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000665"^^xsd:string) AnnotationAssertion( "GARD:10353"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.20"^^xsd:string) AnnotationAssertion( "ICD9CM:277.1"^^xsd:string) AnnotationAssertion( "MESH:D011164"^^xsd:string) AnnotationAssertion( "MONDO:0037939"^^xsd:string) AnnotationAssertion( "NCI:C97096"^^xsd:string) AnnotationAssertion( "Porphyrin Disorder"^^xsd:string) AnnotationAssertion( "Porphyrin Disorders"^^xsd:string) AnnotationAssertion( "disorder of porphyrin and hem metabolism"^^xsd:string) AnnotationAssertion( "disorder of porphyrin metabolism"^^xsd:string) AnnotationAssertion( "hematoporphyria"^^xsd:string) AnnotationAssertion( "porphyrias"^^xsd:string) AnnotationAssertion( "porphyrinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HFE POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:13268"^^xsd:string) AnnotationAssertion(rdfs:label "porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary coproporphyria) AnnotationAssertion(Annotation( "MESH:D046349"^^xsd:string) "An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS."^^xsd:string) AnnotationAssertion( "DOID:9005794"^^xsd:string) AnnotationAssertion( "MIM:121300"^^xsd:string) AnnotationAssertion( "RDO:0000598"^^xsd:string) AnnotationAssertion( "GARD:6619"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.29"^^xsd:string) AnnotationAssertion( "MESH:C535469"^^xsd:string) AnnotationAssertion( "MESH:D046349"^^xsd:string) AnnotationAssertion( "NCI:C84759"^^xsd:string) AnnotationAssertion( "CPO deficiency"^^xsd:string) AnnotationAssertion( "CPOX deficiency"^^xsd:string) AnnotationAssertion( "CPOX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CPOX-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "Coproporphyria"^^xsd:string) AnnotationAssertion( "HCP"^^xsd:string) AnnotationAssertion( "Porphyria Hepatica, Coproporphyria"^^xsd:string) AnnotationAssertion( "coproporphyrinogen oxidase deficiency"^^xsd:string) AnnotationAssertion( "hereditary coproporphyria porphyria"^^xsd:string) AnnotationAssertion( "porphyria hepatica II"^^xsd:string) AnnotationAssertion( "COPROPORPHYRIA, DIGENIC"^^xsd:string) AnnotationAssertion( "CPX DEFICIENCY HARDEROPORPHYRIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13269"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary coproporphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythropoietic protoporphyria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria"^^xsd:string) "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4527"^^xsd:string) AnnotationAssertion( "MESH:D046351"^^xsd:string) AnnotationAssertion( "MIM:PS177000"^^xsd:string) AnnotationAssertion( "NCI:C84698"^^xsd:string) AnnotationAssertion( "ORDO:79278"^^xsd:string) AnnotationAssertion( "EPP"^^xsd:string) AnnotationAssertion( "Ferrochelatase Deficiencies"^^xsd:string) AnnotationAssertion( "Ferrochelatase Deficiency"^^xsd:string) AnnotationAssertion( "Heme Synthetase Deficiencies"^^xsd:string) AnnotationAssertion( "erythrohepatic protoporphyria"^^xsd:string) AnnotationAssertion( "erythropoietic protoporphyrias"^^xsd:string) AnnotationAssertion( "heme synthetase deficiency"^^xsd:string) AnnotationAssertion( "protoporphyria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13270"^^xsd:string) AnnotationAssertion(rdfs:label "erythropoietic protoporphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous porphyria) AnnotationAssertion(Annotation( "MESH:D017092"^^xsd:string) "An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS."^^xsd:string) AnnotationAssertion( "MIM:263700"^^xsd:string) AnnotationAssertion( "RDO:0007025"^^xsd:string) AnnotationAssertion( "GARD:4446"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.0"^^xsd:string) AnnotationAssertion( "MESH:D017092"^^xsd:string) AnnotationAssertion( "NCI:C84697"^^xsd:string) AnnotationAssertion( "CEP"^^xsd:string) AnnotationAssertion( "Congenital Erythropoietic Porphyrias"^^xsd:string) AnnotationAssertion( "Deficiency of Uroporphyrinogen III Synthase"^^xsd:string) AnnotationAssertion( "Erythropoietic Porphyrias"^^xsd:string) AnnotationAssertion( "Gunther Disease"^^xsd:string) AnnotationAssertion( "Gunther's Disease"^^xsd:string) AnnotationAssertion( "Gunthers Disease"^^xsd:string) AnnotationAssertion( "Porphyria, Erythropoietic"^^xsd:string) AnnotationAssertion( "UROPORPHYRINOGEN III SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "UROS deficiency"^^xsd:string) AnnotationAssertion( "congenital erythropoietic porphyria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13271"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klebsiella pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Klebsiella_pneumonia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1555037"^^xsd:string) "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-06-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J15.0"^^xsd:string) AnnotationAssertion( "ICD9CM:482.0"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:482.0"^^xsd:string) "Pneumonia due to Klebsiella pneumoniae"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:64479007"^^xsd:string) "Pneumonia due to Klebsiella pneumoniae (disorder)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13272"^^xsd:string) AnnotationAssertion(rdfs:label "Klebsiella pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mycoplasma pneumoniae pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20632053"^^xsd:string) "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007387"^^xsd:string) AnnotationAssertion( "ICD10CM:J15.7"^^xsd:string) AnnotationAssertion( "ICD9CM:483.0"^^xsd:string) AnnotationAssertion( "MESH:D011019"^^xsd:string) AnnotationAssertion( "Primary Atypical Pneumonia"^^xsd:string) AnnotationAssertion( "cold agglutinin positive pneumonia"^^xsd:string) AnnotationAssertion( "mycoplasma pneumonia"^^xsd:string) AnnotationAssertion( "mycoplasma pneumonias"^^xsd:string) AnnotationAssertion( "mycoplasmal pneumonia"^^xsd:string) AnnotationAssertion( "pneumonia due to Eaton's agent"^^xsd:string) AnnotationAssertion( "pneumonia due to mycoplasma pneumoniae"^^xsd:string) AnnotationAssertion( "pneumonia due to mycoplasma pneumoniae (disorder)"^^xsd:string) AnnotationAssertion( "primary atypical pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13276"^^xsd:string) AnnotationAssertion(rdfs:label "Mycoplasma pneumoniae pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rift Valley fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs207/en/"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.4"^^xsd:string) AnnotationAssertion( "MESH:D012295"^^xsd:string) AnnotationAssertion( "NCI:C128419"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1328"^^xsd:string) AnnotationAssertion(rdfs:label "Rift Valley fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intestinal tuberculosis) AnnotationAssertion(Annotation( "http://smj.sma.org.sg/5006/5006pe1.pdf"^^xsd:string) "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:014.8"^^xsd:string) AnnotationAssertion( "tuberculosis of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13282"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (crater-like holes of optic disc) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:377.22"^^xsd:string) AnnotationAssertion( "RDO:9003396"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:194048008"^^xsd:string) "Crater-like optic disc holes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13295"^^xsd:string) AnnotationAssertion(rdfs:label "crater-like holes of optic disc"^^xsd:string) SubClassOf( ) # Class: (vaginal Mullerian papilloma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26948653"^^xsd:string) "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40255"^^xsd:string) AnnotationAssertion( "vaginal Muellerian papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:133"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal Mullerian papilloma"^^xsd:string) SubClassOf( ) # Class: (Scheuermann's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scheuermann%27s_disease"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease"^^xsd:string) "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)"^^xsd:string) AnnotationAssertion( "MIM:181440"^^xsd:string) AnnotationAssertion( "GARD:7610"^^xsd:string) AnnotationAssertion( "ICD10CM:M42.0"^^xsd:string) AnnotationAssertion( "ICD10CM:M42.00"^^xsd:string) AnnotationAssertion( "ICD9CM:732.0"^^xsd:string) AnnotationAssertion( "MESH:D012544"^^xsd:string) AnnotationAssertion( "NCI:C34999"^^xsd:string) AnnotationAssertion( "Adolescent Kyphosis"^^xsd:string) AnnotationAssertion( "Juvenile Kyphosis"^^xsd:string) AnnotationAssertion( "Juvenile Osteochondrosis of Spine"^^xsd:string) AnnotationAssertion( "Scheuermann Juvenile Kyphosis"^^xsd:string) AnnotationAssertion( "Scheuermann Kyphoses"^^xsd:string) AnnotationAssertion( "Scheuermann Kyphosis"^^xsd:string) AnnotationAssertion( "Scheuermann disease"^^xsd:string) AnnotationAssertion( "Scheuermann juvenile kyphoses"^^xsd:string) AnnotationAssertion( "Scheuermann's kyphoses"^^xsd:string) AnnotationAssertion( "Scheuermann's kyphosis"^^xsd:string) AnnotationAssertion( "Scheuermanns Disease"^^xsd:string) AnnotationAssertion( "Scheuermanns kyphosis"^^xsd:string) AnnotationAssertion( "Sherman's disease"^^xsd:string) AnnotationAssertion( "adolescent kyphoses"^^xsd:string) AnnotationAssertion( "juvenile kyphoses"^^xsd:string) AnnotationAssertion( "juvenile osteochondritis of the spine"^^xsd:string) AnnotationAssertion( "juvenile osteochondrosis of Scheurermann"^^xsd:string) AnnotationAssertion( "spine juvenile osteochondroses"^^xsd:string) AnnotationAssertion( "spine juvenile osteochondrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13300"^^xsd:string) AnnotationAssertion(rdfs:label "Scheuermann's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diphtheritic cystitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18889690"^^xsd:string) "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A36.85"^^xsd:string) AnnotationAssertion( "ICD9CM:032.84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13306"^^xsd:string) AnnotationAssertion(rdfs:label "diphtheritic cystitis"^^xsd:string) SubClassOf( ) # Class: (diphtheritic peritonitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false"^^xsd:string) "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A36.89"^^xsd:string) AnnotationAssertion( "ICD9CM:032.83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13310"^^xsd:string) AnnotationAssertion(rdfs:label "diphtheritic peritonitis"^^xsd:string) SubClassOf( ) # Class: (pancreatic mucinous ductal ectasia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5717"^^xsd:string) AnnotationAssertion( "RDO:9004839"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13313"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic mucinous ductal ectasia"^^xsd:string) SubClassOf( ) # Class: (exocrine pancreatic insufficiency) AnnotationAssertion(Annotation( "MESH:D010188"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK555926/"^^xsd:string) "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K86.81"^^xsd:string) AnnotationAssertion( "MESH:D010188"^^xsd:string) AnnotationAssertion( "NCI:C84316"^^xsd:string) AnnotationAssertion( "EPI"^^xsd:string) AnnotationAssertion( "exocrine pancreatic insufficiencies"^^xsd:string) AnnotationAssertion( "pancreatic insufficiencies"^^xsd:string) AnnotationAssertion( "pancreatic insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13316"^^xsd:string) AnnotationAssertion(rdfs:label "exocrine pancreatic insufficiency"^^xsd:string) SubClassOf( ) # Class: (hyperinsulinemic hypoglycemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia"^^xsd:string) "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C538567"^^xsd:string) AnnotationAssertion( "EFO:0007318"^^xsd:string) AnnotationAssertion( "ICD10CM:E16.9"^^xsd:string) AnnotationAssertion( "MESH:D046768"^^xsd:string) AnnotationAssertion( "MIM:PS256450"^^xsd:string) AnnotationAssertion( "NCI:C122923"^^xsd:string) AnnotationAssertion( "NCI:C4375"^^xsd:string) AnnotationAssertion( "PHHI"^^xsd:string) AnnotationAssertion( "PHHI hypoglycemia"^^xsd:string) AnnotationAssertion( "PHHI hypoglycemias"^^xsd:string) AnnotationAssertion( "autosomal recessive hyperinsulinism"^^xsd:string) AnnotationAssertion( "familial hyperinsulinism with pancreatic nesidioblastosis"^^xsd:string) AnnotationAssertion( "hyperinsulinemia hypoglycemia of infancy"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia"^^xsd:string) AnnotationAssertion( "hyperinsulinemic hypoglycemia of infancy"^^xsd:string) AnnotationAssertion( "infancy hyperinsulinemia hypoglycemia"^^xsd:string) AnnotationAssertion( "islet cell hyperplasia"^^xsd:string) AnnotationAssertion( "nesidioblastoses"^^xsd:string) AnnotationAssertion( "nesidioblastosis"^^xsd:string) AnnotationAssertion( "nesidioblastosis of pancreas"^^xsd:string) AnnotationAssertion( "pancreas nesidioblastoses"^^xsd:string) AnnotationAssertion( "pancreas nesidioblastosis"^^xsd:string) AnnotationAssertion( "pancreatic nesidioblastoses"^^xsd:string) AnnotationAssertion( "pancreatic nesidioblastosis"^^xsd:string) AnnotationAssertion( "persistent hyperinsulinemia, hypoglycemia of infancy"^^xsd:string) AnnotationAssertion( "persistent hyperinsulinemic hypoglycemia"^^xsd:string) AnnotationAssertion( "persistent hyperinsulinemic hypoglycemia of infancy"^^xsd:string) AnnotationAssertion( "persistent hyperinsulinemic hypoglycemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13317"^^xsd:string) AnnotationAssertion(rdfs:label "hyperinsulinemic hypoglycemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic follicular conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.43"^^xsd:string) AnnotationAssertion( "ICD9CM:372.12"^^xsd:string) AnnotationAssertion( "RDO:9003791"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13326"^^xsd:string) AnnotationAssertion(rdfs:label "chronic follicular conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (anatomical narrow angle borderline glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/"^^xsd:string) "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13327"^^xsd:string) AnnotationAssertion(rdfs:label "anatomical narrow angle borderline glaucoma"^^xsd:string) SubClassOf( ) # Class: (diabetic cataract) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23479523"^^xsd:string) "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-10-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.41"^^xsd:string) AnnotationAssertion( "RDO:9000785"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13328"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (toxic optic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H46.3"^^xsd:string) AnnotationAssertion( "ICD9CM:377.34"^^xsd:string) AnnotationAssertion( "MESH:D000081028"^^xsd:string) AnnotationAssertion( "toxic optic neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13329"^^xsd:string) AnnotationAssertion(rdfs:label "toxic optic neuropathy"^^xsd:string) SubClassOf( ) # Class: (hypertrophy of tongue papillae) AnnotationAssertion( "ICD10CM:K14.3"^^xsd:string) AnnotationAssertion( "ICD9CM:529.3"^^xsd:string) AnnotationAssertion( "MONDO:0001689"^^xsd:string) AnnotationAssertion( "tongue papillary hypertrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13333"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophy of tongue papillae"^^xsd:string) SubClassOf( ) # Class: (congenital toxoplasmosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh"^^xsd:string) Annotation( "http://www.who.int/bulletin/volumes/91/7/12-111732.pdf"^^xsd:string) "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007220"^^xsd:string) AnnotationAssertion( "GARD:10326"^^xsd:string) AnnotationAssertion( "ICD10CM:P37.1"^^xsd:string) AnnotationAssertion( "MESH:D014125"^^xsd:string) AnnotationAssertion( "NCI:C50503"^^xsd:string) AnnotationAssertion( "ORDO:858"^^xsd:string) AnnotationAssertion( "Congenital Toxoplasma Infection"^^xsd:string) AnnotationAssertion( "Congenital Toxoplasma gondii Infection"^^xsd:string) AnnotationAssertion( "Fetal Toxoplasmoses"^^xsd:string) AnnotationAssertion( "Fetal Toxoplasmosis"^^xsd:string) AnnotationAssertion( "Prenatal Toxoplasmoses"^^xsd:string) AnnotationAssertion( "congenital toxoplasma infections"^^xsd:string) AnnotationAssertion( "congenital toxoplasmoses"^^xsd:string) AnnotationAssertion( "prenatal toxoplasmosis"^^xsd:string) AnnotationAssertion( "toxoplasmosis - congen."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13336"^^xsd:string) AnnotationAssertion(rdfs:label "congenital toxoplasmosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (parasitic conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:372.15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13341"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngeal cartilage cancer) AnnotationAssertion( "ICD10CM:C32.3"^^xsd:string) AnnotationAssertion( "ICD9CM:161.3"^^xsd:string) AnnotationAssertion( "malignant neoplasm of laryngeal cartilage"^^xsd:string) AnnotationAssertion( "malignant neoplasm of laryngeal cartilages"^^xsd:string) AnnotationAssertion( "malignant tumor of laryngeal cartilage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13348"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal cartilage cancer"^^xsd:string) SubClassOf( ) # Class: (pedophilia) AnnotationAssertion(Annotation( "MESH:D010378"^^xsd:string) "A sexual disorder occurring in a person 16 years or older and that is recurrent with intense sexually arousing fantasies, sexual urges, or behaviors involving sexual activity with a prepubescent child (generally age 13 or younger). (from APA, DSM-IV, 1994)."^^xsd:string) AnnotationAssertion( "ICD10CM:F65.4"^^xsd:string) AnnotationAssertion( "ICD9CM:302.2"^^xsd:string) AnnotationAssertion( "MESH:D010378"^^xsd:string) AnnotationAssertion( "NCI:C94355"^^xsd:string) AnnotationAssertion( "paedophilia"^^xsd:string) AnnotationAssertion( "pedophilias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13351"^^xsd:string) AnnotationAssertion(rdfs:label "pedophilia"^^xsd:string) SubClassOf( ) # Class: (ego-dystonic sexual orientation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation"^^xsd:string) "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:302.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13352"^^xsd:string) AnnotationAssertion(rdfs:label "ego-dystonic sexual orientation"^^xsd:string) SubClassOf( ) # Class: (diffuse interstitial keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:370.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13353"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse interstitial keratitis"^^xsd:string) SubClassOf( ) # Class: (senile ectropion) AnnotationAssertion( "ICD9CM:374.11"^^xsd:string) AnnotationAssertion( "involutional ectropion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13356"^^xsd:string) AnnotationAssertion(rdfs:label "senile ectropion"^^xsd:string) SubClassOf( ) # Class: (chondromalacia patellae) AnnotationAssertion(Annotation( "MESH:D046789"^^xsd:string) "A degeneration of the ARTICULAR CARTILAGE of the PATELLA, caused by a decrease in sulfated MUCOPOLYSACCHARIDES in the ground substance. When accompanied by pain, it is sometimes considered part of or confused with PATELLOFEMORAL PAIN SYNDROME."^^xsd:string) AnnotationAssertion( "MIM:168900"^^xsd:string) AnnotationAssertion( "ICD10CM:M22.4"^^xsd:string) AnnotationAssertion( "ICD9CM:717.7"^^xsd:string) AnnotationAssertion( "MESH:D046789"^^xsd:string) AnnotationAssertion( "chondromalacia of patella"^^xsd:string) AnnotationAssertion( "softening of articular cartilage of patella"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13357"^^xsd:string) AnnotationAssertion(rdfs:label "chondromalacia patellae"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/ehlers-Danlos"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html"^^xsd:string) Annotation( "https://www.ehlers-danlos.com/what-is-eds/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23711271"^^xsd:string) "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6322"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.6"^^xsd:string) AnnotationAssertion( "ICD9CM:756.83"^^xsd:string) AnnotationAssertion( "MESH:D004535"^^xsd:string) AnnotationAssertion( "MIM:PS130000"^^xsd:string) AnnotationAssertion( "NCI:C34568"^^xsd:string) AnnotationAssertion( "Ehlers Danlos Disease"^^xsd:string) AnnotationAssertion( "cutis elastica"^^xsd:string) AnnotationAssertion( "cutis hyperelastica"^^xsd:string) AnnotationAssertion( "elastic skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13359"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (reading disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reading_disability"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Learning_disability"^^xsd:string) "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:315.09"^^xsd:string) AnnotationAssertion( "reading disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13365"^^xsd:string) AnnotationAssertion(rdfs:label "reading disorder"^^xsd:string) SubClassOf( ) # Class: (Stiff-Person syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stiff_person_syndrome"^^xsd:string) "A movement disease that is of unknown etiology characterized by progressive rigidity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538136"^^xsd:string) AnnotationAssertion( "MIM:184850"^^xsd:string) AnnotationAssertion( "EFO:0007498"^^xsd:string) AnnotationAssertion( "GARD:5023"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.82"^^xsd:string) AnnotationAssertion( "ICD9CM:333.91"^^xsd:string) AnnotationAssertion( "MESH:D016750"^^xsd:string) AnnotationAssertion( "NCI:C85170"^^xsd:string) AnnotationAssertion( "Moersch Woltmann Syndrome"^^xsd:string) AnnotationAssertion( "SPS"^^xsd:string) AnnotationAssertion( "Startle Syndrome"^^xsd:string) AnnotationAssertion( "Startle Syndromes"^^xsd:string) AnnotationAssertion( "congenital stiff-man syndrome"^^xsd:string) AnnotationAssertion( "congenital stiff-man syndromes"^^xsd:string) AnnotationAssertion( "congenital stiff-person syndrome"^^xsd:string) AnnotationAssertion( "congenital stiff-person syndromes"^^xsd:string) AnnotationAssertion( "familial startle disease"^^xsd:string) AnnotationAssertion( "hereditary hyperekplexia"^^xsd:string) AnnotationAssertion( "stiff man syndrome"^^xsd:string) AnnotationAssertion( "stiff-baby syndrome"^^xsd:string) AnnotationAssertion( "stiff-baby syndromes"^^xsd:string) AnnotationAssertion( "stiff-trunk syndrome"^^xsd:string) AnnotationAssertion( "stiff-trunk syndromes"^^xsd:string) AnnotationAssertion( "stiffman syndrome"^^xsd:string) AnnotationAssertion( "PER"^^xsd:string) AnnotationAssertion( "PERM"^^xsd:string) AnnotationAssertion( "progressive encephalomyelitis with rigidity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13366"^^xsd:string) AnnotationAssertion(rdfs:label "Stiff-Person syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tinea profunda) AnnotationAssertion(Annotation( "https://www.medigoo.com/articles/tinea-profunda/"^^xsd:string) "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "Majocchi's granuloma"^^xsd:string) AnnotationAssertion( "deep seated dermatophytosis"^^xsd:string) AnnotationAssertion( "granuloma trichophyticum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13368"^^xsd:string) AnnotationAssertion(rdfs:label "tinea profunda"^^xsd:string) SubClassOf( ) # Class: (tinea manuum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tinea_manuum"^^xsd:string) "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B35.2"^^xsd:string) AnnotationAssertion( "ICD9CM:110.2"^^xsd:string) AnnotationAssertion( "MESH:C000656824"^^xsd:string) AnnotationAssertion( "dermatophytosis of hand"^^xsd:string) AnnotationAssertion( "tinea manus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13369"^^xsd:string) AnnotationAssertion(rdfs:label "tinea manuum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scrub typhus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Scrub_typhus"^^xsd:string) "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007480"^^xsd:string) AnnotationAssertion( "ICD10CM:A75.3"^^xsd:string) AnnotationAssertion( "ICD9CM:081.2"^^xsd:string) AnnotationAssertion( "MESH:D012612"^^xsd:string) AnnotationAssertion( "Japanese river fever"^^xsd:string) AnnotationAssertion( "Kedani fever"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:081.2"^^xsd:string) "Tsutsugamushi"^^xsd:string) AnnotationAssertion( "Tsutsugamushi Disease"^^xsd:string) AnnotationAssertion( "Tsutsugamushi Diseases"^^xsd:string) AnnotationAssertion( "Tsutsugamushi Fever"^^xsd:string) AnnotationAssertion( "Tsutsugamushi Fevers"^^xsd:string) AnnotationAssertion( "Typhus fever due to Rickettsia tsutsugamushi"^^xsd:string) AnnotationAssertion( "scrub mite-borne typhus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Chigger-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "Chigger-borne typhus"^^xsd:string) AnnotationAssertion( "Mite-borne rickettsiosis"^^xsd:string) AnnotationAssertion( "Mite-borne typhus"^^xsd:string) AnnotationAssertion( "Tropical typhus"^^xsd:string) AnnotationAssertion( "DOID:13371"^^xsd:string) AnnotationAssertion(rdfs:label "scrub typhus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alpha 1-antitrypsin deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm"^^xsd:string) Annotation( "https://alpha1.org/what-is-alpha1/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency"^^xsd:string) "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566273"^^xsd:string) AnnotationAssertion( "MIM:613490"^^xsd:string) AnnotationAssertion( "EFO:0002946"^^xsd:string) AnnotationAssertion( "GARD:5784"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.01"^^xsd:string) AnnotationAssertion( "ICD9CM:273.4"^^xsd:string) AnnotationAssertion( "MESH:D019896"^^xsd:string) AnnotationAssertion( "MONDO:0013282"^^xsd:string) AnnotationAssertion( "NCI:C84397"^^xsd:string) AnnotationAssertion( "ORDO:60"^^xsd:string) AnnotationAssertion( "A1ATD"^^xsd:string) AnnotationAssertion( "AAT deficiency"^^xsd:string) AnnotationAssertion( "Alpha-1 Related Emphysema"^^xsd:string) AnnotationAssertion( "Genetic Emphysema"^^xsd:string) AnnotationAssertion( "Hereditary Pulmonary Emphysema"^^xsd:string) AnnotationAssertion( "Inherited Emphysema"^^xsd:string) AnnotationAssertion( "SERPINA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "alpha 1-antitrypsin deficiencies"^^xsd:string) AnnotationAssertion( "alpha-1 protease inhibitor deficiency"^^xsd:string) AnnotationAssertion( "alpha-1-antitrypsin deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "Emphysema due to AAT deficiency"^^xsd:string) AnnotationAssertion( "Emphysema-cirrhosis, due to AAT deficiency"^^xsd:string) AnnotationAssertion( "HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION"^^xsd:string) AnnotationAssertion( "Hemorrhagic diathesis due to antithrombin Pittsburgh"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "'ANTITHROMBIN' PITTSBURGH"^^xsd:string) AnnotationAssertion( "PI M(HEERLEN)"^^xsd:string) AnnotationAssertion( "PI M(NICHINAN)"^^xsd:string) AnnotationAssertion( "PI NULL(BELLINGHAM)"^^xsd:string) AnnotationAssertion( "PI NULL(CARDIFF)"^^xsd:string) AnnotationAssertion( "PI NULL(DEVON)"^^xsd:string) AnnotationAssertion( "PI NULL(ISOLA DI PROCIDA)"^^xsd:string) AnnotationAssertion( "PI NULL(LUDWIGSHAFEN)"^^xsd:string) AnnotationAssertion( "PI NULL(NEWPORT)"^^xsd:string) AnnotationAssertion( "PI NULL(PROCIDA)"^^xsd:string) AnnotationAssertion( "PI P(DUARTE)"^^xsd:string) AnnotationAssertion( "PI P(LOWELL)"^^xsd:string) AnnotationAssertion( "PI PITTSBURGH"^^xsd:string) AnnotationAssertion( "PI Q0(BELLINGHAM)"^^xsd:string) AnnotationAssertion( "PI Q0(CARDIFF)"^^xsd:string) AnnotationAssertion( "PI Q0(DEVON)"^^xsd:string) AnnotationAssertion( "PI Q0(GRANITE FALLS)"^^xsd:string) AnnotationAssertion( "PI Q0(LUDWIGSHAFEN)"^^xsd:string) AnnotationAssertion( "PI Q0(NEWPORT)"^^xsd:string) AnnotationAssertion( "PI Q0(PROCIDA)"^^xsd:string) AnnotationAssertion( "PI S(iiyama)"^^xsd:string) AnnotationAssertion( "PI W(Bethesda)"^^xsd:string) AnnotationAssertion( "PI Z(Bristol)"^^xsd:string) AnnotationAssertion( "DOID:13372"^^xsd:string) AnnotationAssertion(rdfs:label "alpha 1-antitrypsin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibrodysplasia ossificans progressiva) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/"^^xsd:string) Annotation( "https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva"^^xsd:string) "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6445"^^xsd:string) AnnotationAssertion( "ICD10CM:M61.1"^^xsd:string) AnnotationAssertion( "ICD10CM:M61.10"^^xsd:string) AnnotationAssertion( "ICD9CM:728.11"^^xsd:string) AnnotationAssertion( "MIM:135100"^^xsd:string) AnnotationAssertion( "MONDO:0007606"^^xsd:string) AnnotationAssertion( "NCI:C3040"^^xsd:string) AnnotationAssertion( "ORDO:337"^^xsd:string) AnnotationAssertion( "FOP"^^xsd:string) AnnotationAssertion( "myositis ossificans progressiva"^^xsd:string) AnnotationAssertion( "progressive myositis ossificans"^^xsd:string) AnnotationAssertion( "progressive ossifying myositis"^^xsd:string) AnnotationAssertion( "stone man syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13374"^^xsd:string) AnnotationAssertion(rdfs:label "fibrodysplasia ossificans progressiva"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (temporal arteritis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758"^^xsd:string) "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538533"^^xsd:string) AnnotationAssertion( "MIM:187360"^^xsd:string) AnnotationAssertion( "EFO:1001209"^^xsd:string) AnnotationAssertion( "ICD9CM:446.5"^^xsd:string) AnnotationAssertion( "MESH:D013700"^^xsd:string) AnnotationAssertion( "NCI:C35065"^^xsd:string) AnnotationAssertion( "ORDO:397"^^xsd:string) AnnotationAssertion( "Giant Cell Aortitis"^^xsd:string) AnnotationAssertion( "Giant Cell Aortitis, Horton's"^^xsd:string) AnnotationAssertion( "Giant Cell Arteritis"^^xsd:string) AnnotationAssertion( "Horton Disease"^^xsd:string) AnnotationAssertion( "Horton Giant Cell Arteritis"^^xsd:string) AnnotationAssertion( "Horton's Disease"^^xsd:string) AnnotationAssertion( "Horton's Giant Cell Arteritis"^^xsd:string) AnnotationAssertion( "Hortons Disease"^^xsd:string) AnnotationAssertion( "Juvenile cranial arteritis"^^xsd:string) AnnotationAssertion( "cranial arteritides"^^xsd:string) AnnotationAssertion( "cranial arteritis"^^xsd:string) AnnotationAssertion( "giant cell aortic arteritis"^^xsd:string) AnnotationAssertion( "giant cell aortitides"^^xsd:string) AnnotationAssertion( "giant cell arteritides"^^xsd:string) AnnotationAssertion( "juvenile giant cell arteritis"^^xsd:string) AnnotationAssertion( "juvenile polymyalgia rheumatica"^^xsd:string) AnnotationAssertion( "juvenile temporal arteritides"^^xsd:string) AnnotationAssertion( "juvenile temporal arteritis"^^xsd:string) AnnotationAssertion( "temporal arteritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13375"^^xsd:string) AnnotationAssertion(rdfs:label "temporal arteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kawasaki disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kawasaki_disease"^^xsd:string) "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537014"^^xsd:string) AnnotationAssertion( "MIM:611775"^^xsd:string) AnnotationAssertion( "EFO:0004246"^^xsd:string) AnnotationAssertion( "GARD:6816"^^xsd:string) AnnotationAssertion( "ICD10CM:M30.3"^^xsd:string) AnnotationAssertion( "ICD9CM:446.1"^^xsd:string) AnnotationAssertion( "MESH:D009080"^^xsd:string) AnnotationAssertion( "NCI:C34825"^^xsd:string) AnnotationAssertion( "ORDO:2331"^^xsd:string) AnnotationAssertion( "KD"^^xsd:string) AnnotationAssertion( "Kawasaki syndrome"^^xsd:string) AnnotationAssertion( "Kawasaki's disease"^^xsd:string) AnnotationAssertion( "MLNS"^^xsd:string) AnnotationAssertion( "acute febrile MCLS"^^xsd:string) AnnotationAssertion( "acute febrile mucocutaneous lymph node syndrome"^^xsd:string) AnnotationAssertion( "infantile polyarteritis"^^xsd:string) AnnotationAssertion( "mucocutaneous lymph node syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13378"^^xsd:string) AnnotationAssertion(rdfs:label "Kawasaki disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital dyserythropoietic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK5313/"^^xsd:string) "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (DO)"^^xsd:string) AnnotationAssertion( "syndromic congenital hemolytic and dyserythropoietic anemia"^^xsd:string) AnnotationAssertion( "GARD:1999"^^xsd:string) AnnotationAssertion( "ICD10CM:D64.4"^^xsd:string) AnnotationAssertion( "MESH:D000742"^^xsd:string) AnnotationAssertion( "MIM:PS224120"^^xsd:string) AnnotationAssertion( "NCI:C84646"^^xsd:string) AnnotationAssertion( "ORDO:85"^^xsd:string) AnnotationAssertion( "Congenital Dyserythropoietic Anemias"^^xsd:string) AnnotationAssertion( "congenital dyshaematopoietic anaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1338"^^xsd:string) AnnotationAssertion(rdfs:label "congenital dyserythropoietic anemia"^^xsd:string) SubClassOf( ) # Class: (pernicious anemia) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000569.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/"^^xsd:string) "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005576"^^xsd:string) AnnotationAssertion( "GARD:12671"^^xsd:string) AnnotationAssertion( "ICD10CM:D51.0"^^xsd:string) AnnotationAssertion( "ICD9CM:281.0"^^xsd:string) AnnotationAssertion( "MESH:D000752"^^xsd:string) AnnotationAssertion( "MIM:170900"^^xsd:string) AnnotationAssertion( "MONDO:0008228"^^xsd:string) AnnotationAssertion( "NCI:C2871"^^xsd:string) AnnotationAssertion( "Addison anemia"^^xsd:string) AnnotationAssertion( "Addison's anaemia"^^xsd:string) AnnotationAssertion( "Addison's anemia"^^xsd:string) AnnotationAssertion( "Addisons anemia"^^xsd:string) AnnotationAssertion( "Biermer's anaemia"^^xsd:string) AnnotationAssertion( "Biermer's anemia"^^xsd:string) AnnotationAssertion( "pernicious anaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13381"^^xsd:string) AnnotationAssertion(rdfs:label "pernicious anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (megaloblastic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Megaloblastic_anemia"^^xsd:string) "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D53.1"^^xsd:string) AnnotationAssertion( "MESH:D000749"^^xsd:string) AnnotationAssertion( "NCI:C34382"^^xsd:string) AnnotationAssertion( "megaloblastic anaemia"^^xsd:string) AnnotationAssertion( "megaloblastic anemias"^^xsd:string) AnnotationAssertion( "recessive hereditary megaloblastic anaemia 1"^^xsd:string) AnnotationAssertion( "MEGALOBLASTIC ANEMIA DUE TO INBORN ERRORS OF METABOLISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13382"^^xsd:string) AnnotationAssertion(rdfs:label "megaloblastic anemia"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal anthrax) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/g3575hwr232l4411/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Anthrax#Gastrointestinal"^^xsd:string) "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A22.2"^^xsd:string) AnnotationAssertion( "ICD9CM:022.2"^^xsd:string) AnnotationAssertion( "MESH:C571911"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13386"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal anthrax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (labia majora carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27917514"^^xsd:string) "A vulva carcinoma that is located_in the labia majora. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9363"^^xsd:string) AnnotationAssertion( "carcinoma of labia majora"^^xsd:string) AnnotationAssertion( "labia majora cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13389"^^xsd:string) AnnotationAssertion(rdfs:label "labia majora carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diamond-Blackfan anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia"^^xsd:string) Annotation( "http://www.cdc.gov/ncbddd/dba/"^^xsd:string) Annotation( "http://www.omim.org/entry/105650"^^xsd:string) "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004130"^^xsd:string) AnnotationAssertion( "GARD:6274"^^xsd:string) AnnotationAssertion( "MESH:D029503"^^xsd:string) AnnotationAssertion( "MIM:PS105650"^^xsd:string) AnnotationAssertion( "MONDO:0015253"^^xsd:string) AnnotationAssertion( "NCI:C61236"^^xsd:string) AnnotationAssertion( "ORDO:124"^^xsd:string) AnnotationAssertion( "Aase syndrome"^^xsd:string) AnnotationAssertion( "BDS"^^xsd:string) AnnotationAssertion( "Blackfan Diamond disease"^^xsd:string) AnnotationAssertion( "Blackfan Diamond syndrome"^^xsd:string) AnnotationAssertion( "DBA"^^xsd:string) AnnotationAssertion( "Diamond-Blackfan type anemia"^^xsd:string) AnnotationAssertion( "chronic congenital agenerative anemia"^^xsd:string) AnnotationAssertion( "chronic congenital aregenerative anemia"^^xsd:string) AnnotationAssertion( "chronic constitutional pure red cell anaemia"^^xsd:string) AnnotationAssertion( "congenital erythroid hypoplastic anemia"^^xsd:string) AnnotationAssertion( "congenital hypoplastic anemia of Blackfan and Diamond"^^xsd:string) AnnotationAssertion( "congenital pure red cell anemia"^^xsd:string) AnnotationAssertion( "congenital pure red cell aplasia"^^xsd:string) AnnotationAssertion( "erythrogenesis imperfecta"^^xsd:string) AnnotationAssertion( "erythrogenesis imperfectas"^^xsd:string) AnnotationAssertion( "inherited erythroblastopenia"^^xsd:string) AnnotationAssertion( "pure hereditary red cell aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1339"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan anemia"^^xsd:string) SubClassOf( ) # Class: (color blindness) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Color_blindness"^^xsd:string) "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.5"^^xsd:string) AnnotationAssertion( "ICD9CM:368.5"^^xsd:string) AnnotationAssertion( "MESH:D003117"^^xsd:string) AnnotationAssertion( "NCI:C3891"^^xsd:string) AnnotationAssertion( "color vision defect"^^xsd:string) AnnotationAssertion( "color vision defects"^^xsd:string) AnnotationAssertion( "color vision deficiency"^^xsd:string) AnnotationAssertion( "colour blindnes"^^xsd:string) AnnotationAssertion( "colour blindness"^^xsd:string) AnnotationAssertion( "colour vision deficiency"^^xsd:string) AnnotationAssertion( "green color blindness"^^xsd:string) AnnotationAssertion( "inherited color blindness"^^xsd:string) AnnotationAssertion( "monochromatopsia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13399"^^xsd:string) AnnotationAssertion(rdfs:label "color blindness"^^xsd:string) SubClassOf( ) # Class: (vaginal glandular tumor) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447"^^xsd:string) "A vaginal cancer that has_material_basis_in glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40250"^^xsd:string) AnnotationAssertion( "RDO:9004606"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:134"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal glandular tumor"^^xsd:string) SubClassOf( ) # Class: (pure red-cell aplasia) AnnotationAssertion(Annotation( "MESH:D012010"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/"^^xsd:string) "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7504"^^xsd:string) AnnotationAssertion( "MESH:D012010"^^xsd:string) AnnotationAssertion( "MONDO:0001705"^^xsd:string) AnnotationAssertion( "NCI:C34974"^^xsd:string) AnnotationAssertion( "Erythrocyte Aplasia"^^xsd:string) AnnotationAssertion( "erythrocyte aplasias"^^xsd:string) AnnotationAssertion( "primary red cell aplasia"^^xsd:string) AnnotationAssertion( "pure red-cell aplasias"^^xsd:string) AnnotationAssertion( "red cell hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1340"^^xsd:string) AnnotationAssertion(rdfs:label "pure red-cell aplasia"^^xsd:string) SubClassOf( ) # Class: (angioid streaks) AnnotationAssertion(Annotation( "MESH:D000793"^^xsd:string) "Small breaks in the elastin-filled tissue of the retina."^^xsd:string) AnnotationAssertion( "MIM:607140"^^xsd:string) AnnotationAssertion( "EFO:1000805"^^xsd:string) AnnotationAssertion( "MESH:D000793"^^xsd:string) AnnotationAssertion( "Angioid Streak"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13401"^^xsd:string) AnnotationAssertion(rdfs:label "angioid streaks"^^xsd:string) SubClassOf( ) # Class: (skin sarcoidosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000767"^^xsd:string) AnnotationAssertion( "ICD10CM:D86.3"^^xsd:string) AnnotationAssertion( "MONDO:0006611"^^xsd:string) AnnotationAssertion( "NCI:C34996"^^xsd:string) AnnotationAssertion( "cutaneous sarcoid"^^xsd:string) AnnotationAssertion( "cutaneous sarcoidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13402"^^xsd:string) AnnotationAssertion(rdfs:label "skin sarcoidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurosarcoidosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/"^^xsd:string) "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C535814"^^xsd:string) AnnotationAssertion( "NCI:C35441"^^xsd:string) AnnotationAssertion( "cerebral sarcoidosis"^^xsd:string) AnnotationAssertion( "nervous system sarcoidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13403"^^xsd:string) AnnotationAssertion(rdfs:label "neurosarcoidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uveoparotid fever) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/"^^xsd:string) "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001232"^^xsd:string) AnnotationAssertion( "ICD10CM:D86.89"^^xsd:string) AnnotationAssertion( "MESH:D014608"^^xsd:string) AnnotationAssertion( "Heerfordt syndrome"^^xsd:string) AnnotationAssertion( "Heerfordt's syndrome"^^xsd:string) AnnotationAssertion( "uveoparotid fevers"^^xsd:string) AnnotationAssertion( "uveoparotitides"^^xsd:string) AnnotationAssertion( "uveoparotitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13404"^^xsd:string) AnnotationAssertion(rdfs:label "uveoparotid fever"^^xsd:string) SubClassOf( ) # Class: (cardiac sarcoidosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/"^^xsd:string) "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35589"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13405"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac sarcoidosis"^^xsd:string) SubClassOf( ) # Class: (pulmonary sarcoidosis) AnnotationAssertion(Annotation( "https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI"^^xsd:string) "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D86.0"^^xsd:string) AnnotationAssertion( "MESH:D017565"^^xsd:string) AnnotationAssertion( "NCI:C34997"^^xsd:string) AnnotationAssertion( "lung sarcoidosis"^^xsd:string) AnnotationAssertion( "pulmonary sarcoidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13406"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary sarcoidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypercalcemic sarcoidosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35807"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13407"^^xsd:string) AnnotationAssertion(rdfs:label "hypercalcemic sarcoidosis"^^xsd:string) SubClassOf( ) # Class: (perforation of bile duct) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.2"^^xsd:string) AnnotationAssertion( "ICD9CM:576.3"^^xsd:string) AnnotationAssertion( "NCI:C143742"^^xsd:string) AnnotationAssertion( "NCI:C78528"^^xsd:string) AnnotationAssertion( "bile duct perforation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13409"^^xsd:string) AnnotationAssertion(rdfs:label "perforation of bile duct"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic encephalopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hepatic_encephalopathy"^^xsd:string) "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10452"^^xsd:string) AnnotationAssertion( "ICD10CM:K72"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.82"^^xsd:string) AnnotationAssertion( "ICD9CM:572.2"^^xsd:string) AnnotationAssertion( "MESH:D006501"^^xsd:string) AnnotationAssertion( "NCI:C79596"^^xsd:string) AnnotationAssertion( "Fulminant Hepatic Failure with Cerebral Edema"^^xsd:string) AnnotationAssertion( "Hepatic Stupor"^^xsd:string) AnnotationAssertion( "Hepatic Stupors"^^xsd:string) AnnotationAssertion( "Hepatocerebral Encephalopathies"^^xsd:string) AnnotationAssertion( "Hepatocerebral Encephalopathy"^^xsd:string) AnnotationAssertion( "Portal Systemic Encephalopathy"^^xsd:string) AnnotationAssertion( "Portal-Systemic Encephalopathies"^^xsd:string) AnnotationAssertion( "Portosystemic Encephalopathies"^^xsd:string) AnnotationAssertion( "hepatic encephalopathies"^^xsd:string) AnnotationAssertion( "portosystemic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13413"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alexia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Alexia_%28disorder%29"^^xsd:string) "An agnosia that is a loss of the ability to recognize text. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:315.01"^^xsd:string) AnnotationAssertion( "MESH:D004411"^^xsd:string) AnnotationAssertion( "Acquired Reading Disability"^^xsd:string) AnnotationAssertion( "acquired alexia"^^xsd:string) AnnotationAssertion( "acquired dyslexia"^^xsd:string) AnnotationAssertion( "acquired global dyslexia"^^xsd:string) AnnotationAssertion( "acquired reading disabilities"^^xsd:string) AnnotationAssertion( "acquired spelling dyslexia"^^xsd:string) AnnotationAssertion( "acquired word blindness"^^xsd:string) AnnotationAssertion( "aphemesthaesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13417"^^xsd:string) AnnotationAssertion(rdfs:label "alexia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurogenic bowel) AnnotationAssertion(Annotation( "MESH:D055496"^^xsd:string) "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body."^^xsd:string) AnnotationAssertion( "EFO:1001061"^^xsd:string) AnnotationAssertion( "ICD9CM:564.81"^^xsd:string) AnnotationAssertion( "MESH:D055496"^^xsd:string) AnnotationAssertion( "Neurogenic Bowels"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13419"^^xsd:string) AnnotationAssertion(rdfs:label "neurogenic bowel"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital hypoplastic anemia) AnnotationAssertion(Annotation( "MESH:D029502"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia"^^xsd:string) "An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.0"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.01"^^xsd:string) AnnotationAssertion( "ICD9CM:284.0"^^xsd:string) AnnotationAssertion( "MESH:D029502"^^xsd:string) AnnotationAssertion( "congenital aplastic anaemia"^^xsd:string) AnnotationAssertion( "congenital aplastic anemia"^^xsd:string) AnnotationAssertion( "congenital hypoplastic anaemia"^^xsd:string) AnnotationAssertion( "congenital hypoplastic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "constitutional aplastic anaemia"^^xsd:string) AnnotationAssertion( "DOID:1342"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hypoplastic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethritis) AnnotationAssertion(Annotation( "MESH:D014526"^^xsd:string) "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both."^^xsd:string) AnnotationAssertion( "EFO:0003878"^^xsd:string) AnnotationAssertion( "ICD10CM:N34.2"^^xsd:string) AnnotationAssertion( "ICD9CM:597.80"^^xsd:string) AnnotationAssertion( "MESH:D014526"^^xsd:string) AnnotationAssertion( "NCI:C26904"^^xsd:string) AnnotationAssertion( "non-gonococcal urethritis"^^xsd:string) AnnotationAssertion( "nongonococcal urethritis"^^xsd:string) AnnotationAssertion( "urethritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1343"^^xsd:string) AnnotationAssertion(rdfs:label "urethritis"^^xsd:string) SubClassOf( ) # Class: (bejel) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bejel"^^xsd:string) Annotation( "http://www.merckmanuals.com/home/sec17/ch190/ch190d.html"^^xsd:string) "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5905"^^xsd:string) AnnotationAssertion( "MESH:C538405"^^xsd:string) AnnotationAssertion( "dichuchwa"^^xsd:string) AnnotationAssertion( "frenga"^^xsd:string) AnnotationAssertion( "njovera"^^xsd:string) AnnotationAssertion( "nonvenereal endemic syphilis"^^xsd:string) AnnotationAssertion( "nonvenereal syphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13431"^^xsd:string) AnnotationAssertion(rdfs:label "bejel"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glanders) AnnotationAssertion(Annotation( "http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/"^^xsd:string) "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007286"^^xsd:string) AnnotationAssertion( "GARD:9536"^^xsd:string) AnnotationAssertion( "ICD10CM:A24.0"^^xsd:string) AnnotationAssertion( "ICD9CM:024"^^xsd:string) AnnotationAssertion( "MESH:D005896"^^xsd:string) AnnotationAssertion( "NCI:C34638"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:35322000"^^xsd:string) "Farcy pipes"^^xsd:string) AnnotationAssertion( "infection due to Pseudomonas mallei"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13444"^^xsd:string) AnnotationAssertion(rdfs:label "glanders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basilar artery occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I65.1"^^xsd:string) AnnotationAssertion( "ICD9CM:433.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13446"^^xsd:string) AnnotationAssertion(rdfs:label "basilar artery occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corneal argyrosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.02"^^xsd:string) AnnotationAssertion( "ICD9CM:371.16"^^xsd:string) AnnotationAssertion( "argentous corneal deposits"^^xsd:string) AnnotationAssertion( "argyrosis of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13447"^^xsd:string) AnnotationAssertion(rdfs:label "corneal argyrosis"^^xsd:string) SubClassOf( ) # Class: (posterior corneal pigmentation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.05"^^xsd:string) AnnotationAssertion( "ICD9CM:371.13"^^xsd:string) AnnotationAssertion( "RDO:9003425"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:371.13"^^xsd:string) "Posterior corneal pigmentations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13448"^^xsd:string) AnnotationAssertion(rdfs:label "posterior corneal pigmentation"^^xsd:string) SubClassOf( ) # Class: (coccidioidomycosis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch197/ch197e.html"^^xsd:string) "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007211"^^xsd:string) AnnotationAssertion( "GARD:9525"^^xsd:string) AnnotationAssertion( "ICD10CM:B38"^^xsd:string) AnnotationAssertion( "ICD9CM:114"^^xsd:string) AnnotationAssertion( "MESH:D003047"^^xsd:string) AnnotationAssertion( "NCI:C84642"^^xsd:string) AnnotationAssertion( "Coccidioides immitis Infection"^^xsd:string) AnnotationAssertion( "Coccidioides immitis infections"^^xsd:string) AnnotationAssertion( "Coccidioidomycoses"^^xsd:string) AnnotationAssertion( "San Joaquin Valley Fever"^^xsd:string) AnnotationAssertion( "Valley Fever"^^xsd:string) AnnotationAssertion( "primary extrapulmonary coccidioidomycosis"^^xsd:string) AnnotationAssertion( "valley fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13450"^^xsd:string) AnnotationAssertion(rdfs:label "coccidioidomycosis"^^xsd:string) SubClassOf( ) # Class: (scleritis) AnnotationAssertion(Annotation( "MESH:D015423"^^xsd:string) "Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva."^^xsd:string) AnnotationAssertion( "GARD:12911"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.0"^^xsd:string) AnnotationAssertion( "ICD9CM:379.00"^^xsd:string) AnnotationAssertion( "MESH:D015423"^^xsd:string) AnnotationAssertion( "NCI:C119046"^^xsd:string) AnnotationAssertion( "RDO:0006864"^^xsd:string) AnnotationAssertion( "Episcleritides"^^xsd:string) AnnotationAssertion( "Episcleritis"^^xsd:string) AnnotationAssertion( "Necrotizing Scleritides"^^xsd:string) AnnotationAssertion( "Necrotizing Scleritis"^^xsd:string) AnnotationAssertion( "Scleritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13452"^^xsd:string) AnnotationAssertion(rdfs:label "scleritis"^^xsd:string) SubClassOf( ) # Class: (gonococcal bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A54.49"^^xsd:string) AnnotationAssertion( "ICD9CM:098.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13453"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal bursitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gonococcal synovitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.51"^^xsd:string) AnnotationAssertion( "gonococcal synovitis and tenosynovitis"^^xsd:string) AnnotationAssertion( "gonococcal synovitis or tenosynovitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13454"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal synovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethral intrinsic sphincter deficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N36.42"^^xsd:string) AnnotationAssertion( "ICD9CM:599.82"^^xsd:string) AnnotationAssertion( "intrinsic (urethral) sphincter deficiency [ISD]"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13461"^^xsd:string) AnnotationAssertion(rdfs:label "urethral intrinsic sphincter deficiency"^^xsd:string) SubClassOf( ) # Class: (central pterygium) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string) "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.02"^^xsd:string) AnnotationAssertion( "ICD9CM:372.43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13473"^^xsd:string) AnnotationAssertion(rdfs:label "central pterygium"^^xsd:string) SubClassOf( ) # Class: (progressive peripheral pterygium) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/"^^xsd:string) "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:372.42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13474"^^xsd:string) AnnotationAssertion(rdfs:label "progressive peripheral pterygium"^^xsd:string) SubClassOf( ) # Class: (supraglottis cancer) AnnotationAssertion( "ICD10CM:C32.1"^^xsd:string) AnnotationAssertion( "ICD9CM:161.1"^^xsd:string) AnnotationAssertion( "NCI:C3545"^^xsd:string) AnnotationAssertion( "Ca larynx - supraglottis"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3545"^^xsd:string) "malignant Supraglottic tumor"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:161.1"^^xsd:string) "malignant neoplasm of extrinsic larynx"^^xsd:string) AnnotationAssertion( "malignant neoplasm of supraglottis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187842004"^^xsd:string) "malignant tumor of supraglottis"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C12279"^^xsd:string) "supraglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13476"^^xsd:string) AnnotationAssertion(rdfs:label "supraglottis cancer"^^xsd:string) SubClassOf( ) # Class: (balanitis xerotica obliterans) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24295833"^^xsd:string) "A balantitis characterized by white plaques or patches on genitals. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:607.81"^^xsd:string) AnnotationAssertion( "MESH:D052798"^^xsd:string) AnnotationAssertion( "NCI:C3523"^^xsd:string) AnnotationAssertion( "Kraurosis Penis"^^xsd:string) AnnotationAssertion( "penile lichen sclerosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13477"^^xsd:string) AnnotationAssertion(rdfs:label "balanitis xerotica obliterans"^^xsd:string) SubClassOf( ) # Class: (thanatophoric dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thanatophoric_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia"^^xsd:string) "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:85"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.1"^^xsd:string) AnnotationAssertion( "MESH:D013796"^^xsd:string) AnnotationAssertion( "NCI:C85187"^^xsd:string) AnnotationAssertion( "ORDO:1860"^^xsd:string) AnnotationAssertion( "ORDO:2655"^^xsd:string) AnnotationAssertion( "ORDO:93274"^^xsd:string) AnnotationAssertion( "ORDO:93275"^^xsd:string) AnnotationAssertion( "Thanatophoric Dwarfism"^^xsd:string) AnnotationAssertion( "Thanatophoric Dwarfisms"^^xsd:string) AnnotationAssertion( "thanatophoric dysplasias"^^xsd:string) AnnotationAssertion( "thanatophoric short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13481"^^xsd:string) AnnotationAssertion(rdfs:label "thanatophoric dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Proteus syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/proteus-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK99495/"^^xsd:string) "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176920"^^xsd:string) AnnotationAssertion( "GARD:7475"^^xsd:string) AnnotationAssertion( "MESH:D016715"^^xsd:string) AnnotationAssertion( "NCI:C85032"^^xsd:string) AnnotationAssertion( "ORDO:744"^^xsd:string) AnnotationAssertion( "Elephant Man Disease"^^xsd:string) AnnotationAssertion( "Proteus like syndrome"^^xsd:string) AnnotationAssertion( "Wiedemann's syndrome"^^xsd:string) AnnotationAssertion( "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly"^^xsd:string) AnnotationAssertion( "ELATTOPROTEUS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13482"^^xsd:string) AnnotationAssertion(rdfs:label "Proteus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood disintegrative disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heller%27s_syndrome"^^xsd:string) Annotation( "http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm"^^xsd:string) "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6040"^^xsd:string) AnnotationAssertion( "ICD10CM:F84.3"^^xsd:string) AnnotationAssertion( "ICD9CM:299.1"^^xsd:string) AnnotationAssertion( "NCI:C97164"^^xsd:string) AnnotationAssertion( "Heller's syndrome"^^xsd:string) AnnotationAssertion( "disintegrative psychosis"^^xsd:string) AnnotationAssertion( "symbiotic psychosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13487"^^xsd:string) AnnotationAssertion(rdfs:label "childhood disintegrative disease"^^xsd:string) SubClassOf( ) # Class: (active cochleovestibular Meniere's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.01"^^xsd:string) AnnotationAssertion( "active cochleovestibular Meniere disease"^^xsd:string) AnnotationAssertion( "cochleovestibular active Mnire's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13490"^^xsd:string) AnnotationAssertion(rdfs:label "active cochleovestibular Meniere's disease"^^xsd:string) SubClassOf( ) # Class: (active vestibular Meniere's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.03"^^xsd:string) AnnotationAssertion( "active vestibular Meniere disease"^^xsd:string) AnnotationAssertion( "vestibular active Mnire's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13491"^^xsd:string) AnnotationAssertion(rdfs:label "active vestibular Meniere's disease"^^xsd:string) SubClassOf( ) # Class: (active cochlear Meniere's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.02"^^xsd:string) AnnotationAssertion( "active cochlear Meniere disease"^^xsd:string) AnnotationAssertion( "cochlear active Mnire's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13492"^^xsd:string) AnnotationAssertion(rdfs:label "active cochlear Meniere's disease"^^xsd:string) SubClassOf( ) # Class: (urethral syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N34.3"^^xsd:string) AnnotationAssertion( "ICD9CM:597.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13498"^^xsd:string) AnnotationAssertion(rdfs:label "urethral syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (jejunal cancer) AnnotationAssertion( "EFO:1000998"^^xsd:string) AnnotationAssertion( "ICD10CM:C17.1"^^xsd:string) AnnotationAssertion( "ICD9CM:152.1"^^xsd:string) AnnotationAssertion( "NCI:C170919"^^xsd:string) AnnotationAssertion( "cancer of jejunum"^^xsd:string) AnnotationAssertion( "cancer of the jejunum"^^xsd:string) AnnotationAssertion( "jejunal cancers"^^xsd:string) AnnotationAssertion( "jejunum cancer"^^xsd:string) AnnotationAssertion( "jejunum cancers"^^xsd:string) AnnotationAssertion( "malignant neoplasm of jejunum"^^xsd:string) AnnotationAssertion( "malignant tumor of jejunum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13499"^^xsd:string) AnnotationAssertion(rdfs:label "jejunal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign vaginal carcinosarcoma) AnnotationAssertion(Annotation( "https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5"^^xsd:string) "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40275"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:135"^^xsd:string) AnnotationAssertion(rdfs:label "benign vaginal carcinosarcoma"^^xsd:string) SubClassOf( ) # Class: (paranasal sinus benign neoplasm) AnnotationAssertion( "EFO:0003866"^^xsd:string) AnnotationAssertion( "EFO:1000455"^^xsd:string) AnnotationAssertion( "Paranasal Sinus Papilloma"^^xsd:string) AnnotationAssertion( "Paranasal Sinus Schneiderian Papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1350"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hairy tongue) AnnotationAssertion(Annotation( "MESH:D014064"^^xsd:string) "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000957"^^xsd:string) AnnotationAssertion( "MESH:D014064"^^xsd:string) AnnotationAssertion( "NCI:C35075"^^xsd:string) AnnotationAssertion( "hairy tongues"^^xsd:string) AnnotationAssertion( "overgrowth of filiform papillae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13500"^^xsd:string) AnnotationAssertion(rdfs:label "hairy tongue"^^xsd:string) SubClassOf( ) # Class: (Moebius syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33474647/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/"^^xsd:string) "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535807"^^xsd:string) AnnotationAssertion( "MIM:157900"^^xsd:string) AnnotationAssertion( "EFO:1001046"^^xsd:string) AnnotationAssertion( "GARD:8549"^^xsd:string) AnnotationAssertion( "MESH:D020331"^^xsd:string) AnnotationAssertion( "MONDO:0008006"^^xsd:string) AnnotationAssertion( "NCI:C84893"^^xsd:string) AnnotationAssertion( "MBS"^^xsd:string) AnnotationAssertion( "Mobius syndrome"^^xsd:string) AnnotationAssertion( "Mobius syndromes"^^xsd:string) AnnotationAssertion( "Moebius Congenital Oculofacial Paralysis"^^xsd:string) AnnotationAssertion( "Moebius Sequence"^^xsd:string) AnnotationAssertion( "Moebius spectrum"^^xsd:string) AnnotationAssertion( "Moebius syndrome 1"^^xsd:string) AnnotationAssertion( "Moebius syndromes"^^xsd:string) AnnotationAssertion( "Möbius sequence"^^xsd:string) AnnotationAssertion( "congenital ophthalmoplegia and facial paresis"^^xsd:string) AnnotationAssertion( "oromandibular-limb hypogenesis spectrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13501"^^xsd:string) AnnotationAssertion(rdfs:label "Moebius syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trigonitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N30.3"^^xsd:string) AnnotationAssertion( "ICD9CM:595.3"^^xsd:string) AnnotationAssertion( "NCI:C123175"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13507"^^xsd:string) AnnotationAssertion(rdfs:label "trigonitis"^^xsd:string) SubClassOf( ) # Class: (venous tributary occlusion of retina) AnnotationAssertion( "An obstruction occurring within any of the branches of the central retinal vein."^^xsd:string) AnnotationAssertion( "ICD9CM:362.36"^^xsd:string) AnnotationAssertion( "RDO:9000120"^^xsd:string) AnnotationAssertion( "BRVO"^^xsd:string) AnnotationAssertion( "BRVT"^^xsd:string) AnnotationAssertion( "BVO"^^xsd:string) AnnotationAssertion( "Branch Retinal Vein Occlusion"^^xsd:string) AnnotationAssertion( "Branch retinal occlusion"^^xsd:string) AnnotationAssertion( "Branch retinal vein thrombosis"^^xsd:string) AnnotationAssertion( "Venous retinal branch occlusion"^^xsd:string) AnnotationAssertion( "Venous retinal tributary occlusion"^^xsd:string) AnnotationAssertion( "venous tributary branch occlusion of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13514"^^xsd:string) AnnotationAssertion(rdfs:label "venous tributary occlusion of retina"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberous sclerosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms"^^xsd:string) "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7830"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.1"^^xsd:string) AnnotationAssertion( "ICD9CM:759.5"^^xsd:string) AnnotationAssertion( "MESH:D014402"^^xsd:string) AnnotationAssertion( "MIM:PS191100"^^xsd:string) AnnotationAssertion( "NCI:C3424"^^xsd:string) AnnotationAssertion( "Bourneville Phakomatosis"^^xsd:string) AnnotationAssertion( "Bourneville Pringle Disease"^^xsd:string) AnnotationAssertion( "Bourneville Pringle's Disease"^^xsd:string) AnnotationAssertion( "Bourneville Syndrome"^^xsd:string) AnnotationAssertion( "Bourneville disease"^^xsd:string) AnnotationAssertion( "Bourneville phacomatosis"^^xsd:string) AnnotationAssertion( "Bourneville's Disease"^^xsd:string) AnnotationAssertion( "Bourneville's Syndrome"^^xsd:string) AnnotationAssertion( "Bourneville-Pringles Disease"^^xsd:string) AnnotationAssertion( "Cerebral Sclerosis"^^xsd:string) AnnotationAssertion( "Epiloia"^^xsd:string) AnnotationAssertion( "TS"^^xsd:string) AnnotationAssertion( "TSC"^^xsd:string) AnnotationAssertion( "adenoma sebaceum"^^xsd:string) AnnotationAssertion( "cerebral scleroses"^^xsd:string) AnnotationAssertion( "sclerosis tuberosa"^^xsd:string) AnnotationAssertion( "tuberose sclerosis"^^xsd:string) AnnotationAssertion( "tuberous sclerosis complex"^^xsd:string) AnnotationAssertion( "tuberous sclerosis syndrome"^^xsd:string) AnnotationAssertion( "CORTICAL TUBERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13515"^^xsd:string) AnnotationAssertion(rdfs:label "tuberous sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paranasal sinus disease) AnnotationAssertion(Annotation( "MESH:D010254"^^xsd:string) "Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors."^^xsd:string) AnnotationAssertion( "RDO:0006284"^^xsd:string) AnnotationAssertion( "EFO:0009481"^^xsd:string) AnnotationAssertion( "MESH:D010254"^^xsd:string) AnnotationAssertion( "NCI:C26843"^^xsd:string) AnnotationAssertion( "disorder of nasal sinus"^^xsd:string) AnnotationAssertion( "paranasal sinus diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1352"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus disease"^^xsd:string) SubClassOf( ) # Class: (neonatal infective mastitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P39.0"^^xsd:string) AnnotationAssertion( "ICD9CM:771.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13520"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal infective mastitis"^^xsd:string) SubClassOf( ) # Class: (tetanus neonatorum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neonatal_tetanus"^^xsd:string) "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A33"^^xsd:string) AnnotationAssertion( "ICD9CM:771.3"^^xsd:string) AnnotationAssertion( "NCI:C116814"^^xsd:string) AnnotationAssertion( "neonatal tetanus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13521"^^xsd:string) AnnotationAssertion(rdfs:label "tetanus neonatorum"^^xsd:string) SubClassOf( ) # Class: (loiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Loiasis"^^xsd:string) "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000729"^^xsd:string) AnnotationAssertion( "GARD:3283"^^xsd:string) AnnotationAssertion( "ICD10CM:B74.3"^^xsd:string) AnnotationAssertion( "ICD9CM:125.2"^^xsd:string) AnnotationAssertion( "MESH:D008118"^^xsd:string) AnnotationAssertion( "NCI:C34784"^^xsd:string) AnnotationAssertion( "loaiases"^^xsd:string) AnnotationAssertion( "loaiasis"^^xsd:string) AnnotationAssertion( "loiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13523"^^xsd:string) AnnotationAssertion(rdfs:label "loiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteopetrosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteopetrosis"^^xsd:string) "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4155"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.2"^^xsd:string) AnnotationAssertion( "ICD9CM:756.52"^^xsd:string) AnnotationAssertion( "MESH:D010022"^^xsd:string) AnnotationAssertion( "MIM:PS259700"^^xsd:string) AnnotationAssertion( "MIM:PS607634"^^xsd:string) AnnotationAssertion( "NCI:C26840"^^xsd:string) AnnotationAssertion( "ORDO:667"^^xsd:string) AnnotationAssertion( "Albers Schoenberg disease"^^xsd:string) AnnotationAssertion( "Albers Schonberg Disease"^^xsd:string) AnnotationAssertion( "Albers Schönberg disease"^^xsd:string) AnnotationAssertion( "Congenital Osteopetrosis"^^xsd:string) AnnotationAssertion( "Marble Bone Disease"^^xsd:string) AnnotationAssertion( "Marble Bones, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "marble bone"^^xsd:string) AnnotationAssertion( "osteopetroses"^^xsd:string) AnnotationAssertion( "osteosclerosis fragilis"^^xsd:string) AnnotationAssertion( "osteosclerosis fragilis generalisata"^^xsd:string) AnnotationAssertion( "Albers Schonberg disease, autosomal dominant"^^xsd:string) AnnotationAssertion( "INFANTILE OSTEOPETROSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "High Bone Mass"^^xsd:string) AnnotationAssertion( "DOID:13533"^^xsd:string) AnnotationAssertion(rdfs:label "osteopetrosis"^^xsd:string) SubClassOf( ) # Class: (purulent labyrinthitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh"^^xsd:string) "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.33"^^xsd:string) AnnotationAssertion( "bacterial labyrinthitis"^^xsd:string) AnnotationAssertion( "suppurative labyrinthitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute suppurative labyrinthitis"^^xsd:string) AnnotationAssertion( "DOID:13534"^^xsd:string) AnnotationAssertion(rdfs:label "purulent labyrinthitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cornea squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4552"^^xsd:string) AnnotationAssertion( "corneal epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13538"^^xsd:string) AnnotationAssertion(rdfs:label "cornea squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperparathyroidism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperparathyroidism"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=hyperparathyroidism"^^xsd:string) "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008506"^^xsd:string) AnnotationAssertion( "ICD10CM:E21.3"^^xsd:string) AnnotationAssertion( "ICD9CM:252.0"^^xsd:string) AnnotationAssertion( "MESH:D006961"^^xsd:string) AnnotationAssertion( "MIM:PS145000"^^xsd:string) AnnotationAssertion( "NCI:C48259"^^xsd:string) AnnotationAssertion( "ORDO:99879"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13543"^^xsd:string) AnnotationAssertion(rdfs:label "hyperparathyroidism"^^xsd:string) SubClassOf( ) # Class: (low tension glaucoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma"^^xsd:string) "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001022"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.12"^^xsd:string) AnnotationAssertion( "ICD9CM:365.12"^^xsd:string) AnnotationAssertion( "MESH:D057066"^^xsd:string) AnnotationAssertion( "low tension glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13544"^^xsd:string) AnnotationAssertion(rdfs:label "low tension glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secondary Parkinson disease) AnnotationAssertion(Annotation( "MESH:D010302"^^xsd:string) "Conditions which feature clinical manifestations resembling primary Parkinson's disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"^^xsd:string) AnnotationAssertion( "EFO:1001175"^^xsd:string) AnnotationAssertion( "ICD10CM:G21"^^xsd:string) AnnotationAssertion( "ICD9CM:332.1"^^xsd:string) AnnotationAssertion( "MESH:D010302"^^xsd:string) AnnotationAssertion( "NCI:C34899"^^xsd:string) AnnotationAssertion( "Secondary Vascular Parkinson Disease"^^xsd:string) AnnotationAssertion( "Secondary Vascular Parkinson's Disease"^^xsd:string) AnnotationAssertion( "Symptomatic Parkinson Disease"^^xsd:string) AnnotationAssertion( "atherosclerotic parkinsonism"^^xsd:string) AnnotationAssertion( "disorder presenting primarily with parkinsonism"^^xsd:string) AnnotationAssertion( "secondary Parkinson's disease"^^xsd:string) AnnotationAssertion( "secondary parkinsonism"^^xsd:string) AnnotationAssertion( "symptomatic Parkinson's disease"^^xsd:string) AnnotationAssertion( "symptomatic parkinsonism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13548"^^xsd:string) AnnotationAssertion(rdfs:label "secondary Parkinson disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (interval angle-closure glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string) Annotation( "https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma"^^xsd:string) "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.23"^^xsd:string) AnnotationAssertion( "ICD9CM:365.21"^^xsd:string) AnnotationAssertion( "intermittent angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "prodromal angle closure glaucoma"^^xsd:string) AnnotationAssertion( "subacute angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13549"^^xsd:string) AnnotationAssertion(rdfs:label "interval angle-closure glaucoma"^^xsd:string) SubClassOf( ) # Class: (paranasal sinus lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6068"^^xsd:string) AnnotationAssertion( "RDO:9004779"^^xsd:string) AnnotationAssertion( "lymphoma of accessory sinus"^^xsd:string) AnnotationAssertion( "lymphoma of paranasal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1355"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angle-closure glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string) "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D015812"^^xsd:string) AnnotationAssertion( "NCI:C34639"^^xsd:string) AnnotationAssertion( "ACG - angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "Closed-Angle Glaucoma"^^xsd:string) AnnotationAssertion( "Narrow-Angle Glaucoma"^^xsd:string) AnnotationAssertion( "Narrow-Angle Glaucomas"^^xsd:string) AnnotationAssertion( "Uncompensated Glaucoma"^^xsd:string) AnnotationAssertion( "Uncompensated Glaucomas"^^xsd:string) AnnotationAssertion( "angle closure glaucomas"^^xsd:string) AnnotationAssertion( "closed-angle glaucomas"^^xsd:string) AnnotationAssertion( "narrow cleft glaucoma"^^xsd:string) AnnotationAssertion( "primary open-angle glaucoma with narrow angles"^^xsd:string) AnnotationAssertion( "uncompensative glaucoma"^^xsd:string) AnnotationAssertion( "uncompensative glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PCAG"^^xsd:string) AnnotationAssertion( "Primary Closed Angle Glaucoma"^^xsd:string) AnnotationAssertion( "DOID:13550"^^xsd:string) AnnotationAssertion(rdfs:label "angle-closure glaucoma"^^xsd:string) SubClassOf( ) # Class: (subserous uterine fibroid) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22583728"^^xsd:string) "An uterine fibroid that is located adjacent to the outside of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D25.2"^^xsd:string) AnnotationAssertion( "ICD9CM:218.2"^^xsd:string) AnnotationAssertion( "subserous leiomyoma of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13560"^^xsd:string) AnnotationAssertion(rdfs:label "subserous uterine fibroid"^^xsd:string) SubClassOf( ) # Class: (optic disk drusen) AnnotationAssertion(Annotation( "MESH:D015594"^^xsd:string) "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.32"^^xsd:string) AnnotationAssertion( "ICD9CM:377.21"^^xsd:string) AnnotationAssertion( "MESH:D015594"^^xsd:string) AnnotationAssertion( "RDO:0006905"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:377.21"^^xsd:string) "Drusen of optic disc"^^xsd:string) AnnotationAssertion( "Optic Disc Drusen"^^xsd:string) AnnotationAssertion( "Optic Disc Drusens"^^xsd:string) AnnotationAssertion( "Optic Disk Drusens"^^xsd:string) AnnotationAssertion( "Optic Nerve Drusen"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:33629003"^^xsd:string) "optic nerve head drusen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13561"^^xsd:string) AnnotationAssertion(rdfs:label "optic disk drusen"^^xsd:string) SubClassOf( ) # Class: (aspergillosis) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/"^^xsd:string) Annotation( "http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all"^^xsd:string) "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614079"^^xsd:string) AnnotationAssertion( "EFO:0007157"^^xsd:string) AnnotationAssertion( "GARD:5856"^^xsd:string) AnnotationAssertion( "ICD10CM:B44"^^xsd:string) AnnotationAssertion( "ICD9CM:117.3"^^xsd:string) AnnotationAssertion( "MESH:D001228"^^xsd:string) AnnotationAssertion( "NCI:C2886"^^xsd:string) AnnotationAssertion( "ASPERGILLOSIS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Aspergilloses"^^xsd:string) AnnotationAssertion( "infection due to Aspergillus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13564"^^xsd:string) AnnotationAssertion(rdfs:label "aspergillosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neuroaspergillosis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17377359"^^xsd:string) "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007393"^^xsd:string) AnnotationAssertion( "MESH:D020953"^^xsd:string) AnnotationAssertion( "nervous system invasive aspergillosis"^^xsd:string) AnnotationAssertion( "neuroaspergilloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13565"^^xsd:string) AnnotationAssertion(rdfs:label "neuroaspergillosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tibial collateral ligament bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:726.62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13566"^^xsd:string) AnnotationAssertion(rdfs:label "tibial collateral ligament bursitis"^^xsd:string) SubClassOf( ) # Class: (maxillary sinus cancer) AnnotationAssertion( "malignant tumor of the maxillary sinus"^^xsd:string) AnnotationAssertion( "ICD10CM:C31.0"^^xsd:string) AnnotationAssertion( "ICD9CM:160.2"^^xsd:string) AnnotationAssertion( "NCI:C3540"^^xsd:string) AnnotationAssertion( "NCI:C9332"^^xsd:string) AnnotationAssertion( "cancer of maxillary sinus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of antrum"^^xsd:string) AnnotationAssertion( "malignant tumor of the maxillary sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1357"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cortical senile cataract) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cataract"^^xsd:string) "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13574"^^xsd:string) AnnotationAssertion(rdfs:label "cortical senile cataract"^^xsd:string) SubClassOf( ) # Class: (non-renal secondary hyperparathyroidism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:252.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13575"^^xsd:string) AnnotationAssertion(rdfs:label "non-renal secondary hyperparathyroidism"^^xsd:string) SubClassOf( ) # Class: (twin-to-twin transfusion syndrome) AnnotationAssertion(Annotation( "MESH:D005330"^^xsd:string) Annotation( "https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK563133/"^^xsd:string) "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001221"^^xsd:string) AnnotationAssertion( "ICD10CM:O43.02"^^xsd:string) AnnotationAssertion( "ICD10CM:O43.029"^^xsd:string) AnnotationAssertion( "MESH:D005330"^^xsd:string) AnnotationAssertion( "MONDO:0019805"^^xsd:string) AnnotationAssertion( "NCI:C113824"^^xsd:string) AnnotationAssertion( "Fetal Transfusion Syndromes"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:772.0"^^xsd:string) "Fetal blood loss from fetal hemorrhage into co-twin"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:56268004"^^xsd:string) "Fetal hemorrhage into co-twin"^^xsd:string) AnnotationAssertion( "Fetofetal Transfusion Syndrome"^^xsd:string) AnnotationAssertion( "Fetofetal Transfusion Syndromes"^^xsd:string) AnnotationAssertion( "Fetofetal Transfusions"^^xsd:string) AnnotationAssertion( "Intrauterine Cross Transfusion"^^xsd:string) AnnotationAssertion( "Intrauterine Cross-Transfusions"^^xsd:string) AnnotationAssertion( "Twin Transfusion"^^xsd:string) AnnotationAssertion( "Twin-to-Twin Transfusion Syndromes"^^xsd:string) AnnotationAssertion( "fetal transfusion syndrome"^^xsd:string) AnnotationAssertion( "fetofetal transfusion"^^xsd:string) AnnotationAssertion( "twin to twin transfusion"^^xsd:string) AnnotationAssertion( "twin transfusion syndrome"^^xsd:string) AnnotationAssertion( "twin transfusion syndromes"^^xsd:string) AnnotationAssertion( "twin transfusions"^^xsd:string) AnnotationAssertion( "twin twin transfusion syndrome"^^xsd:string) AnnotationAssertion( "twin-to-twin blood transfer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13576"^^xsd:string) AnnotationAssertion(rdfs:label "twin-to-twin transfusion syndrome"^^xsd:string) SubClassOf( ) # Class: (kwashiorkor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK507876/"^^xsd:string) "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001009"^^xsd:string) AnnotationAssertion( "ICD10CM:E40"^^xsd:string) AnnotationAssertion( "ICD9CM:260"^^xsd:string) AnnotationAssertion( "MESH:D007732"^^xsd:string) AnnotationAssertion( "Kwashiokor"^^xsd:string) AnnotationAssertion( "Kwashiorkors"^^xsd:string) AnnotationAssertion( "nutritional edema with dyspigmentation of skin and hair"^^xsd:string) AnnotationAssertion( "nutritional oedema with dyspigmentation of skin and/or hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13579"^^xsd:string) AnnotationAssertion(rdfs:label "kwashiorkor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (maxillary sinus benign neoplasm) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1358"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholestasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cholestasis"^^xsd:string) "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.1"^^xsd:string) AnnotationAssertion( "ICD9CM:576.2"^^xsd:string) AnnotationAssertion( "MESH:D002779"^^xsd:string) AnnotationAssertion( "NCI:C83006"^^xsd:string) AnnotationAssertion( "Biliary Stases"^^xsd:string) AnnotationAssertion( "bile duct obstruction"^^xsd:string) AnnotationAssertion( "bile duct obstructions"^^xsd:string) AnnotationAssertion( "bile occlusion"^^xsd:string) AnnotationAssertion( "biliary stasis"^^xsd:string) AnnotationAssertion( "cholestases"^^xsd:string) AnnotationAssertion( "obstruction of bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13580"^^xsd:string) AnnotationAssertion(rdfs:label "cholestasis"^^xsd:string) SubClassOf( ) # Class: (alveolar periostitis) AnnotationAssertion(Annotation( "MESH:D004368"^^xsd:string) "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)"^^xsd:string) AnnotationAssertion( "ICD10CM:M27.3"^^xsd:string) AnnotationAssertion( "ICD9CM:526.5"^^xsd:string) AnnotationAssertion( "MESH:D004368"^^xsd:string) AnnotationAssertion( "Alveolalgia"^^xsd:string) AnnotationAssertion( "Alveolalgias"^^xsd:string) AnnotationAssertion( "Alveolar Osteitides"^^xsd:string) AnnotationAssertion( "Alveolar Osteitis"^^xsd:string) AnnotationAssertion( "Alveolar Periostitides"^^xsd:string) AnnotationAssertion( "Alveolitis Sicca Dolorosa"^^xsd:string) AnnotationAssertion( "Alveolitis of jaw"^^xsd:string) AnnotationAssertion( "Dry Socket"^^xsd:string) AnnotationAssertion( "Dry Sockets"^^xsd:string) AnnotationAssertion( "Dry tooth socket"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13585"^^xsd:string) AnnotationAssertion(rdfs:label "alveolar periostitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female infertility of uterine origin) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Female_infertility"^^xsd:string) "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N97.2"^^xsd:string) AnnotationAssertion( "ICD9CM:628.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13589"^^xsd:string) AnnotationAssertion(rdfs:label "female infertility of uterine origin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eclampsia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/preeclampsia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24400024"^^xsd:string) "A pre-eclampsia characterized by the presence of seizures. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6316"^^xsd:string) AnnotationAssertion( "ICD10CM:O15"^^xsd:string) AnnotationAssertion( "ICD10CM:O15.9"^^xsd:string) AnnotationAssertion( "MESH:D004461"^^xsd:string) AnnotationAssertion( "NCI:C87167"^^xsd:string) AnnotationAssertion( "eclampsia in puerperium"^^xsd:string) AnnotationAssertion( "eclampsias"^^xsd:string) AnnotationAssertion( "postpartum eclampsia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13593"^^xsd:string) AnnotationAssertion(rdfs:label "eclampsia"^^xsd:string) SubClassOf( ) # Class: (vaginal carcinosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12588439"^^xsd:string) "A vaginal carcinoma that has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000618"^^xsd:string) AnnotationAssertion( "NCI:C40274"^^xsd:string) AnnotationAssertion( "NCI:C40276"^^xsd:string) AnnotationAssertion( "NCI:C40278"^^xsd:string) AnnotationAssertion( "malignant vaginal mixed epithelial and mesenchymal tumor"^^xsd:string) AnnotationAssertion( "vaginal malignant mixed Mullerian tumor"^^xsd:string) AnnotationAssertion( "vaginal malignant mixed mesodermal (mullerian) tumor"^^xsd:string) AnnotationAssertion( "vaginal mixed epithelial and mesenchymal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:136"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal carcinosarcoma"^^xsd:string) SubClassOf( ) # Class: (frontal sinus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C31.2"^^xsd:string) AnnotationAssertion( "ICD9CM:160.4"^^xsd:string) AnnotationAssertion( "NCI:C3542"^^xsd:string) AnnotationAssertion( "RDO:9002359"^^xsd:string) AnnotationAssertion( "malignant neoplasm of frontal sinus"^^xsd:string) AnnotationAssertion( "malignant tumor of frontal sinus"^^xsd:string) AnnotationAssertion( "malignant tumor of the frontal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1360"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (obstructive jaundice) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Jaundice"^^xsd:string) "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001068"^^xsd:string) AnnotationAssertion( "MESH:D041781"^^xsd:string) AnnotationAssertion( "NCI:C34742"^^xsd:string) AnnotationAssertion( "cholestatic jaundice"^^xsd:string) AnnotationAssertion( "cholestatic jaundice syndrome"^^xsd:string) AnnotationAssertion( "mechanical jaundice"^^xsd:string) AnnotationAssertion( "obstructive hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13603"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive jaundice"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biliary atresia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Biliary_atresia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm"^^xsd:string) "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210500"^^xsd:string) AnnotationAssertion( "EFO:0004217"^^xsd:string) AnnotationAssertion( "GARD:12010"^^xsd:string) AnnotationAssertion( "ICD10CM:Q44.2"^^xsd:string) AnnotationAssertion( "ICD9CM:751.61"^^xsd:string) AnnotationAssertion( "MESH:D001656"^^xsd:string) AnnotationAssertion( "MONDO:0008867"^^xsd:string) AnnotationAssertion( "NCI:C34421"^^xsd:string) AnnotationAssertion( "ORDO:30391"^^xsd:string) AnnotationAssertion( "Extrahepatic Biliary Atresia"^^xsd:string) AnnotationAssertion( "Extrahepatic Biliary Atresias"^^xsd:string) AnnotationAssertion( "Familial Extrahepatic Biliary Atresia"^^xsd:string) AnnotationAssertion( "Idiopathic Extrahepatic Biliary Atresia"^^xsd:string) AnnotationAssertion( "atresia of bile duct"^^xsd:string) AnnotationAssertion( "congenital biliary atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13608"^^xsd:string) AnnotationAssertion(rdfs:label "biliary atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontal sinus benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4419"^^xsd:string) AnnotationAssertion( "neoplasm of frontal sinus"^^xsd:string) AnnotationAssertion( "tumor of the frontal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1361"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinus benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (extrahepatic cholestasis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000215.htm"^^xsd:string) "A cholestasis resulting from causes located_in bile ducts outside the liver. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000933"^^xsd:string) AnnotationAssertion( "MESH:D001651"^^xsd:string) AnnotationAssertion( "NCI:C34420"^^xsd:string) AnnotationAssertion( "extrahepatic bile duct obstruction"^^xsd:string) AnnotationAssertion( "extrahepatic biliary stasis"^^xsd:string) AnnotationAssertion( "extrahepatic obstructive biliary disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13619"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic cholestasis"^^xsd:string) SubClassOf( ) # Class: (paranasal sinus sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient"^^xsd:string) "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6849"^^xsd:string) AnnotationAssertion( "RDO:9003607"^^xsd:string) AnnotationAssertion( "sarcoma of accessory sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1362"^^xsd:string) AnnotationAssertion(rdfs:label "paranasal sinus sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (patent foramen ovale) AnnotationAssertion(Annotation( "MESH:D054092"^^xsd:string) "A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance."^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.12"^^xsd:string) AnnotationAssertion( "MESH:D054092"^^xsd:string) AnnotationAssertion( "NCI:C34619"^^xsd:string) AnnotationAssertion( "RDO:0007657"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:204315000"^^xsd:string) "Atrial septal defect within oval fossa"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:745.5"^^xsd:string) "Defect, Patent or persistent, ostium secundum"^^xsd:string) AnnotationAssertion( "Ostium secundum type atrial septal defect"^^xsd:string) AnnotationAssertion( "Patent Oval Foramen"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:204318003"^^xsd:string) "Persistent ostium secundum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13620"^^xsd:string) AnnotationAssertion(rdfs:label "patent foramen ovale"^^xsd:string) SubClassOf( ) # Class: (campylobacteriosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Campylobacteriosis"^^xsd:string) Annotation( "https://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007190"^^xsd:string) AnnotationAssertion( "MESH:D002169"^^xsd:string) AnnotationAssertion( "Campylobacter Infection"^^xsd:string) AnnotationAssertion( "Campylobacter Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13622"^^xsd:string) AnnotationAssertion(rdfs:label "campylobacteriosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (photokeratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.13"^^xsd:string) AnnotationAssertion( "ICD9CM:370.24"^^xsd:string) AnnotationAssertion( "NCI:C118750"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13626"^^xsd:string) AnnotationAssertion(rdfs:label "photokeratitis"^^xsd:string) SubClassOf( ) # Class: (favism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency"^^xsd:string) "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567533"^^xsd:string) AnnotationAssertion( "MIM:300908"^^xsd:string) AnnotationAssertion( "ICD10CM:D55.0"^^xsd:string) AnnotationAssertion( "MESH:D005236"^^xsd:string) AnnotationAssertion( "NCI:C34607"^^xsd:string) AnnotationAssertion( "Favisms"^^xsd:string) AnnotationAssertion( "nonspherocytic hemolytic anemia due to G6PD deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "G6PD AURES"^^xsd:string) AnnotationAssertion( "G6PD Gastonia"^^xsd:string) AnnotationAssertion( "G6PD Malaga"^^xsd:string) AnnotationAssertion( "G6PD Nara"^^xsd:string) AnnotationAssertion( "G6PD Santiago"^^xsd:string) AnnotationAssertion( "G6PD Santiago De Cuba"^^xsd:string) AnnotationAssertion( "G6PD Serres"^^xsd:string) AnnotationAssertion( "G6PD Sunderland"^^xsd:string) AnnotationAssertion( "G6pd Marion"^^xsd:string) AnnotationAssertion( "G6pd Mediterranean"^^xsd:string) AnnotationAssertion( "G6pd Minnesota"^^xsd:string) AnnotationAssertion( "G6pd a-"^^xsd:string) AnnotationAssertion( "favism, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:13628"^^xsd:string) AnnotationAssertion(rdfs:label "favism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dentine erosion) AnnotationAssertion( "ICD9CM:521.32"^^xsd:string) AnnotationAssertion( "MONDO:0001762"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13629"^^xsd:string) AnnotationAssertion(rdfs:label "dentine erosion"^^xsd:string) SubClassOf( ) # Class: (ethmoid sinus cancer) AnnotationAssertion( "ICD10CM:C31.1"^^xsd:string) AnnotationAssertion( "ICD9CM:160.3"^^xsd:string) AnnotationAssertion( "NCI:C3541"^^xsd:string) AnnotationAssertion( "RDO:9002361"^^xsd:string) AnnotationAssertion( "malignant neoplasm of ethmoidal sinus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363426009"^^xsd:string) "malignant tumor of ethmoid sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3541"^^xsd:string) "malignant tumor of ethmoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1363"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fanconi_anemia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/fanconi-anemia"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1"^^xsd:string) "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6425"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.09"^^xsd:string) AnnotationAssertion( "MESH:D005199"^^xsd:string) AnnotationAssertion( "MIM:PS227650"^^xsd:string) AnnotationAssertion( "NCI:C62505"^^xsd:string) AnnotationAssertion( "ORDO:84"^^xsd:string) AnnotationAssertion( "Fanconi Anemias"^^xsd:string) AnnotationAssertion( "Fanconi Hypoplastic Anemia"^^xsd:string) AnnotationAssertion( "Fanconi Pancytopenia"^^xsd:string) AnnotationAssertion( "Fanconi Panmyelopathy"^^xsd:string) AnnotationAssertion( "Fanconi anaemia"^^xsd:string) AnnotationAssertion( "Fanconi's anaemia"^^xsd:string) AnnotationAssertion( "Fanconi's anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13636"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ethmoidal sinus benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4416"^^xsd:string) AnnotationAssertion( "neoplasm of ethmoidal sinus"^^xsd:string) AnnotationAssertion( "tumor of ethmoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1364"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoidal sinus benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (exfoliation syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/"^^xsd:string) "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)"^^xsd:string) AnnotationAssertion( "MIM:177650"^^xsd:string) AnnotationAssertion( "EFO:0004235"^^xsd:string) AnnotationAssertion( "ICD9CM:365.52"^^xsd:string) AnnotationAssertion( "MESH:D017889"^^xsd:string) AnnotationAssertion( "NCI:C129025"^^xsd:string) AnnotationAssertion( "Exfoliative Syndrome"^^xsd:string) AnnotationAssertion( "Glaucoma Capsulare"^^xsd:string) AnnotationAssertion( "PEXG"^^xsd:string) AnnotationAssertion( "PEXS"^^xsd:string) AnnotationAssertion( "PSEUDOEXFOLIATION GLAUCOMA"^^xsd:string) AnnotationAssertion( "Pseudo Exfoliation Syndrome"^^xsd:string) AnnotationAssertion( "Pseudoexfoliation Of The Lens"^^xsd:string) AnnotationAssertion( "XFG"^^xsd:string) AnnotationAssertion( "XFS"^^xsd:string) AnnotationAssertion( "exfoliation glaucoma"^^xsd:string) AnnotationAssertion( "exfoliation syndromes"^^xsd:string) AnnotationAssertion( "exfoliative syndromes"^^xsd:string) AnnotationAssertion( "pseudo-exfoliation syndromes"^^xsd:string) AnnotationAssertion( "pseudoexfoliation syndrome"^^xsd:string) AnnotationAssertion( "pseudoexfoliation syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "exfoliation syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:13641"^^xsd:string) AnnotationAssertion(rdfs:label "exfoliation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polyneuropathy in collagen vascular disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:357.1"^^xsd:string) AnnotationAssertion( "RDO:9004832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13649"^^xsd:string) AnnotationAssertion(rdfs:label "polyneuropathy in collagen vascular disease"^^xsd:string) SubClassOf( ) # Class: (eversion of lacrimal punctum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.52"^^xsd:string) AnnotationAssertion( "ICD9CM:375.51"^^xsd:string) AnnotationAssertion( "RDO:9004731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13651"^^xsd:string) AnnotationAssertion(rdfs:label "eversion of lacrimal punctum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stenosis of lacrimal punctum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.56"^^xsd:string) AnnotationAssertion( "ICD9CM:375.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13653"^^xsd:string) AnnotationAssertion(rdfs:label "stenosis of lacrimal punctum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stenosis of lacrimal passage) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.54"^^xsd:string) AnnotationAssertion( "ICD9CM:375.53"^^xsd:string) AnnotationAssertion( "stenosis of lacrimal canaliculi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13654"^^xsd:string) AnnotationAssertion(rdfs:label "stenosis of lacrimal passage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acquired tear duct stenosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.55"^^xsd:string) AnnotationAssertion( "ICD9CM:375.56"^^xsd:string) AnnotationAssertion( "RDO:9004732"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:375.56"^^xsd:string) "Stenosis of nasolacrimal duct, acquired"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193995004"^^xsd:string) "acquired nasolacrimal duct stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13655"^^xsd:string) AnnotationAssertion(rdfs:label "acquired tear duct stenosis"^^xsd:string) SubClassOf( ) # Class: (gastrin secretion abnormality) AnnotationAssertion( "ICD9CM:251.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13656"^^xsd:string) AnnotationAssertion(rdfs:label "gastrin secretion abnormality"^^xsd:string) SubClassOf( ) # Class: (infective urethral stricture) AnnotationAssertion( "ICD9CM:598.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13658"^^xsd:string) AnnotationAssertion(rdfs:label "infective urethral stricture"^^xsd:string) SubClassOf( ) # Class: (ulcer of anus and rectum) AnnotationAssertion( "anal and rectal ulcer"^^xsd:string) AnnotationAssertion( "ICD10CM:K62.6"^^xsd:string) AnnotationAssertion( "ICD9CM:569.41"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:197227009"^^xsd:string) "anal and rectal ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13662"^^xsd:string) AnnotationAssertion(rdfs:label "ulcer of anus and rectum"^^xsd:string) SubClassOf( ) # Class: (post-vaccinal encephalitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G04.02"^^xsd:string) AnnotationAssertion( "encephalitis following immunization procedures"^^xsd:string) AnnotationAssertion( "post vaccinal encephalomyelitis"^^xsd:string) AnnotationAssertion( "post-vaccinal encephalitides"^^xsd:string) AnnotationAssertion( "post-vaccinal encephalomyelitides"^^xsd:string) AnnotationAssertion( "postvaccinal encephalitis"^^xsd:string) AnnotationAssertion( "postvaccinal encephalomyelitis"^^xsd:string) AnnotationAssertion( "vaccination encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13664"^^xsd:string) AnnotationAssertion(rdfs:label "post-vaccinal encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior scleritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.03"^^xsd:string) AnnotationAssertion( "ICD9CM:379.07"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13676"^^xsd:string) AnnotationAssertion(rdfs:label "posterior scleritis"^^xsd:string) SubClassOf( ) # Class: (SAPHO syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802951/"^^xsd:string) "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001164"^^xsd:string) AnnotationAssertion( "GARD:7606"^^xsd:string) AnnotationAssertion( "MESH:D020083"^^xsd:string) AnnotationAssertion( "NCI:C119049"^^xsd:string) AnnotationAssertion( "NCI:C84530"^^xsd:string) AnnotationAssertion( "Acquired Hyperostosis Syndromes"^^xsd:string) AnnotationAssertion( "SAPHO syndromes"^^xsd:string) AnnotationAssertion( "acquired hyperostosis syndrome"^^xsd:string) AnnotationAssertion( "synovitis, acne, pustlosis, hyperostosis, and osteomyelitis"^^xsd:string) AnnotationAssertion( "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13677"^^xsd:string) AnnotationAssertion(rdfs:label "SAPHO syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic duodenal ileus) AnnotationAssertion( "ICD9CM:537.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13687"^^xsd:string) AnnotationAssertion(rdfs:label "chronic duodenal ileus"^^xsd:string) SubClassOf( ) # Class: (prostate calculus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N42.0"^^xsd:string) AnnotationAssertion( "ICD9CM:602.0"^^xsd:string) AnnotationAssertion( "NCI:C26936"^^xsd:string) AnnotationAssertion( "calculus of prostate"^^xsd:string) AnnotationAssertion( "prostatic lithiasis"^^xsd:string) AnnotationAssertion( "prostatic stone"^^xsd:string) AnnotationAssertion( "stone of prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13689"^^xsd:string) AnnotationAssertion(rdfs:label "prostate calculus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute gonococcal cystitis) AnnotationAssertion(Annotation( "https://www.icd10data.com/ICD10CM/Codes/A00-B99/A50-A64/A54-/A54.01"^^xsd:string) "An acute cystitis that is caused by gonorrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.11"^^xsd:string) AnnotationAssertion( "acute gonorrhea of bladder"^^xsd:string) AnnotationAssertion( "gonococcal cystitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13690"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal cystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermoid cyst of skin) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23488469"^^xsd:string) "A dermoid cyst that is located_in the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4632"^^xsd:string) AnnotationAssertion( "skin dermoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13691"^^xsd:string) AnnotationAssertion(rdfs:label "dermoid cyst of skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal squamous papilloma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374"^^xsd:string) "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6374"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6374"^^xsd:string) "squamous papilloma of vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:137"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal squamous papilloma"^^xsd:string) SubClassOf( ) # Class: (premature ejaculation) AnnotationAssertion(Annotation( "MESH:D061686"^^xsd:string) "The emission of SEMEN and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration."^^xsd:string) AnnotationAssertion( "ICD10CM:F52.4"^^xsd:string) AnnotationAssertion( "ICD9CM:302.75"^^xsd:string) AnnotationAssertion( "MESH:D061686"^^xsd:string) AnnotationAssertion( "NCI:C94349"^^xsd:string) AnnotationAssertion( "RDO:0012099"^^xsd:string) AnnotationAssertion( "Ejaculatio Praecox"^^xsd:string) AnnotationAssertion( "Ejaculatio Praecoxs"^^xsd:string) AnnotationAssertion( "Premature Ejaculations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13709"^^xsd:string) AnnotationAssertion(rdfs:label "premature ejaculation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus adenomatoid tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/"^^xsd:string) "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27250"^^xsd:string) AnnotationAssertion( "RDO:9004992"^^xsd:string) AnnotationAssertion( "uterine corpus adenomatoid tumour"^^xsd:string) AnnotationAssertion( "uterine corpus localised epithelial Mesothelioma"^^xsd:string) AnnotationAssertion( "uterine corpus localized epithelial mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1371"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus adenomatoid tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental fluorosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21701193/"^^xsd:string) "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000892"^^xsd:string) AnnotationAssertion( "ICD10CM:K00.3"^^xsd:string) AnnotationAssertion( "ICD9CM:520.3"^^xsd:string) AnnotationAssertion( "MESH:D009050"^^xsd:string) AnnotationAssertion( "NCI:C85059"^^xsd:string) AnnotationAssertion( "Dental Fluoroses"^^xsd:string) AnnotationAssertion( "Mottled Enamel"^^xsd:string) AnnotationAssertion( "Mottled Enamels"^^xsd:string) AnnotationAssertion( "intrinsic enamel discolouration of fluorosis"^^xsd:string) AnnotationAssertion( "mottled teeth"^^xsd:string) AnnotationAssertion( "mottling of enamel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13711"^^xsd:string) AnnotationAssertion(rdfs:label "dental fluorosis"^^xsd:string) SubClassOf( ) # Class: (anodontia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/5818/index"^^xsd:string) "A tooth disease that is characterized by complete absence of permanent teeth. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5818"^^xsd:string) AnnotationAssertion( "ICD10CM:K00.0"^^xsd:string) AnnotationAssertion( "ICD9CM:520.0"^^xsd:string) AnnotationAssertion( "MESH:D000848"^^xsd:string) AnnotationAssertion( "Developmental absence of tooth"^^xsd:string) AnnotationAssertion( "Familial Tooth Ageneses"^^xsd:string) AnnotationAssertion( "Familial Tooth Agenesis"^^xsd:string) AnnotationAssertion( "Hypodontia"^^xsd:string) AnnotationAssertion( "complete absence of teeth"^^xsd:string) AnnotationAssertion( "selective tooth agenesis with or without orofacial cleft"^^xsd:string) AnnotationAssertion( "total anodontia of permanent and deciduous teeth"^^xsd:string) AnnotationAssertion( "HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT"^^xsd:string) AnnotationAssertion( "Non-syndromic oligodontia"^^xsd:string) AnnotationAssertion( "PARTIAL CONGENITAL ABSENCE OF TEETH"^^xsd:string) AnnotationAssertion( "selective tooth agenesis with orofacial cleft"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13714"^^xsd:string) AnnotationAssertion(rdfs:label "anodontia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mature cataract) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cataract"^^xsd:string) "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004349"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:366.17"^^xsd:string) "Total or mature cataract"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193590000"^^xsd:string) "Total, mature senile cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13717"^^xsd:string) AnnotationAssertion(rdfs:label "mature cataract"^^xsd:string) SubClassOf( ) # Class: (neuroschistosomiasis) AnnotationAssertion(Annotation( "https://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16138195"^^xsd:string) Annotation( "https://wwwnc.cdc.gov/eid/article/12/9/06-0113_article"^^xsd:string) "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007394"^^xsd:string) AnnotationAssertion( "MESH:D020818"^^xsd:string) AnnotationAssertion( "Neuroschistosomiases"^^xsd:string) AnnotationAssertion( "Schistosomal Myelitis"^^xsd:string) AnnotationAssertion( "Schistosomal Myelopathies"^^xsd:string) AnnotationAssertion( "Schistosomal Myelopathy"^^xsd:string) AnnotationAssertion( "Schistosomal Myeloradiculopathies"^^xsd:string) AnnotationAssertion( "central nervous system schistosomiasis"^^xsd:string) AnnotationAssertion( "schistosomal myeloradiculopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13722"^^xsd:string) AnnotationAssertion(rdfs:label "neuroschistosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scurvy) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000355.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/"^^xsd:string) "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:240400"^^xsd:string) AnnotationAssertion( "EFO:1001169"^^xsd:string) AnnotationAssertion( "GARD:10406"^^xsd:string) AnnotationAssertion( "ICD10CM:E54"^^xsd:string) AnnotationAssertion( "MESH:D012614"^^xsd:string) AnnotationAssertion( "NCI:C35010"^^xsd:string) AnnotationAssertion( "Hypoascorbemia"^^xsd:string) AnnotationAssertion( "Scorbutus"^^xsd:string) AnnotationAssertion( "hypoascorbemias"^^xsd:string) AnnotationAssertion( "scurvies"^^xsd:string) AnnotationAssertion( "GULO, NONFUNCTIONAL"^^xsd:string) AnnotationAssertion( "GULOP"^^xsd:string) AnnotationAssertion( "L-GULONOLACTONE OXIDASE, NONFUNCTIONAL"^^xsd:string) AnnotationAssertion( "inability to synthesize vitamin C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13724"^^xsd:string) AnnotationAssertion(rdfs:label "scurvy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beriberi) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thiamine_deficiency"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000339.htm"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9948/beriberi"^^xsd:string) "A thiamine deficiency disease that is characterized by being severe and chronic. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000837"^^xsd:string) AnnotationAssertion( "GARD:9948"^^xsd:string) AnnotationAssertion( "ICD10CM:E51.1"^^xsd:string) AnnotationAssertion( "ICD9CM:265.0"^^xsd:string) AnnotationAssertion( "MESH:D001602"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13725"^^xsd:string) AnnotationAssertion(rdfs:label "beriberi"^^xsd:string) SubClassOf( ) # Class: (endometrial stromal nodule) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusstromalnodule.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26221551"^^xsd:string) "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000241"^^xsd:string) AnnotationAssertion( "ICDO:8930/0"^^xsd:string) AnnotationAssertion( "NCI:C4262"^^xsd:string) AnnotationAssertion( "RDO:9005002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1373"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial stromal nodule"^^xsd:string) SubClassOf( ) # Class: (malignant renovascular hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002849"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13730"^^xsd:string) AnnotationAssertion(rdfs:label "malignant renovascular hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant secondary hypertension) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:405.0"^^xsd:string) AnnotationAssertion( "RDO:9002855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13731"^^xsd:string) AnnotationAssertion(rdfs:label "malignant secondary hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (panophthalmitis) AnnotationAssertion(Annotation( "MESH:D010202"^^xsd:string) "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture."^^xsd:string) AnnotationAssertion( "EFO:1001081"^^xsd:string) AnnotationAssertion( "ICD9CM:360.02"^^xsd:string) AnnotationAssertion( "MESH:D010202"^^xsd:string) AnnotationAssertion( "Panophthalmitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13732"^^xsd:string) AnnotationAssertion(rdfs:label "panophthalmitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine inflammatory disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25153777"^^xsd:string) "A uterine disease that is characterized by inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009572"^^xsd:string) AnnotationAssertion( "ICD10CM:N71.9"^^xsd:string) AnnotationAssertion( "ICD9CM:615.9"^^xsd:string) AnnotationAssertion( "inflammatory disease of the uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13736"^^xsd:string) AnnotationAssertion(rdfs:label "uterine inflammatory disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.3"^^xsd:string) AnnotationAssertion( "ICD9CM:573.4"^^xsd:string) AnnotationAssertion( "MESH:D000081011"^^xsd:string) AnnotationAssertion( "hepatic infarct"^^xsd:string) AnnotationAssertion( "infarct of liver"^^xsd:string) AnnotationAssertion( "liver infarct"^^xsd:string) AnnotationAssertion( "liver infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13738"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nutmeg liver) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.1"^^xsd:string) AnnotationAssertion( "ICD9CM:573.0"^^xsd:string) AnnotationAssertion( "RDO:9002803"^^xsd:string) AnnotationAssertion( "chronic passive congestion of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13739"^^xsd:string) AnnotationAssertion(rdfs:label "nutmeg liver"^^xsd:string) SubClassOf( ) # Class: (neurofibroma of spinal cord) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5145"^^xsd:string) AnnotationAssertion( "SPINAL NEUROFIBROMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13742"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibroma of spinal cord"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord lipoma) AnnotationAssertion(Annotation( "http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles"^^xsd:string) "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4619"^^xsd:string) AnnotationAssertion( "lipoma of spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13743"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal urinary tract infectious disease) AnnotationAssertion( "ICD10CM:P39.3"^^xsd:string) AnnotationAssertion( "ICD9CM:771.82"^^xsd:string) AnnotationAssertion( "urinary tract infection of newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1375"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal urinary tract infectious disease"^^xsd:string) SubClassOf( ) # Class: (epiphora due to insufficient drainage) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.22"^^xsd:string) AnnotationAssertion( "ICD9CM:375.22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13756"^^xsd:string) AnnotationAssertion(rdfs:label "epiphora due to insufficient drainage"^^xsd:string) SubClassOf( ) # Class: (excessive tearing) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.2"^^xsd:string) AnnotationAssertion( "ICD9CM:375.2"^^xsd:string) AnnotationAssertion( "NCI:C50552"^^xsd:string) AnnotationAssertion( "epiphora"^^xsd:string) AnnotationAssertion( "excessive tear production"^^xsd:string) AnnotationAssertion( "watering eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13757"^^xsd:string) AnnotationAssertion(rdfs:label "excessive tearing"^^xsd:string) SubClassOf( ) # Class: (Pthirus pubis infestation) AnnotationAssertion(Annotation( "http://www.cdc.gov/lice/pubic/disease.html"^^xsd:string) "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B85.3"^^xsd:string) AnnotationAssertion( "ICD9CM:132.2"^^xsd:string) AnnotationAssertion( "NCI:C35777"^^xsd:string) AnnotationAssertion( "Pediculosis pubis"^^xsd:string) AnnotationAssertion( "Pediculus pubis"^^xsd:string) AnnotationAssertion( "Phthiriasis pubis"^^xsd:string) AnnotationAssertion( "Phthirus pubis"^^xsd:string) AnnotationAssertion( "Phthirus/pediculus pubis - pubic lice - crabs"^^xsd:string) AnnotationAssertion( "crabs"^^xsd:string) AnnotationAssertion( "infestation by Phthirus pubis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13760"^^xsd:string) AnnotationAssertion(rdfs:label "Pthirus pubis infestation"^^xsd:string) SubClassOf( ) # Class: (clonorchiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clonorchiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007210"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.1"^^xsd:string) AnnotationAssertion( "ICD9CM:121.1"^^xsd:string) AnnotationAssertion( "MESH:D003003"^^xsd:string) AnnotationAssertion( "clonorchiases"^^xsd:string) AnnotationAssertion( "oriental liver fluke disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13767"^^xsd:string) AnnotationAssertion(rdfs:label "clonorchiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (opisthorchiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Opisthorchiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007404"^^xsd:string) AnnotationAssertion( "GARD:9746"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.0"^^xsd:string) AnnotationAssertion( "ICD9CM:121.0"^^xsd:string) AnnotationAssertion( "MESH:D009889"^^xsd:string) AnnotationAssertion( "infection by Opisthorchis"^^xsd:string) AnnotationAssertion( "opisthorchiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13768"^^xsd:string) AnnotationAssertion(rdfs:label "opisthorchiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Addison's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Addison%27s_disease"^^xsd:string) "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. (DO)"^^xsd:string) AnnotationAssertion( "MIM:240200"^^xsd:string) AnnotationAssertion( "GARD:5740"^^xsd:string) AnnotationAssertion( "ICD10CM:E27.1"^^xsd:string) AnnotationAssertion( "MESH:D000224"^^xsd:string) AnnotationAssertion( "NCI:C26689"^^xsd:string) AnnotationAssertion( "ORDO:85138"^^xsd:string) AnnotationAssertion( "Addison disease"^^xsd:string) AnnotationAssertion( "Addison disease, chronic adrenal insufficiency"^^xsd:string) AnnotationAssertion( "Addisons disease"^^xsd:string) AnnotationAssertion( "adrenal aplasia"^^xsd:string) AnnotationAssertion( "adrenal hypoplasia"^^xsd:string) AnnotationAssertion( "familial hypoadrenocorticism"^^xsd:string) AnnotationAssertion( "primary adrenal insufficiency"^^xsd:string) AnnotationAssertion( "primary adrenocortical insufficiencies"^^xsd:string) AnnotationAssertion( "primary adrenocortical insufficiency"^^xsd:string) AnnotationAssertion( "primary hypoadrenalism"^^xsd:string) AnnotationAssertion( "primary hypoadrenalisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13774"^^xsd:string) AnnotationAssertion(rdfs:label "Addison's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (plantar wart) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Plantar_wart"^^xsd:string) "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002023"^^xsd:string) AnnotationAssertion( "ICD10CM:B07.0"^^xsd:string) AnnotationAssertion( "ICD9CM:078.12"^^xsd:string) AnnotationAssertion( "NCI:C26913"^^xsd:string) AnnotationAssertion( "verruca plantaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13775"^^xsd:string) AnnotationAssertion(rdfs:label "plantar wart"^^xsd:string) SubClassOf( ) # Class: (epidermodysplasia verruciformis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis"^^xsd:string) "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6357"^^xsd:string) AnnotationAssertion( "MESH:D004819"^^xsd:string) AnnotationAssertion( "MIM:PS226400"^^xsd:string) AnnotationAssertion( "NCI:C126877"^^xsd:string) AnnotationAssertion( "ORDO:302"^^xsd:string) AnnotationAssertion( "EV"^^xsd:string) AnnotationAssertion( "Lewandowsky Lutz disease"^^xsd:string) AnnotationAssertion( "Lewandowsky-Lutz syndrome"^^xsd:string) AnnotationAssertion( "Lutz-Lewandowsky epidermodysplasia verruciformis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13777"^^xsd:string) AnnotationAssertion(rdfs:label "epidermodysplasia verruciformis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chancroid) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chancroid"^^xsd:string) "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9522"^^xsd:string) AnnotationAssertion( "ICD10CM:A57"^^xsd:string) AnnotationAssertion( "ICD9CM:099.0"^^xsd:string) AnnotationAssertion( "MESH:D002602"^^xsd:string) AnnotationAssertion( "Chancroids"^^xsd:string) AnnotationAssertion( "Ulcus molle, skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13778"^^xsd:string) AnnotationAssertion(rdfs:label "chancroid"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypermobility syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.7"^^xsd:string) AnnotationAssertion( "ICD9CM:728.5"^^xsd:string) AnnotationAssertion( "benign joint hypermobility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13781"^^xsd:string) AnnotationAssertion(rdfs:label "hypermobility syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (localized anterior staphyloma) AnnotationAssertion( "ICD10CM:H15.82"^^xsd:string) AnnotationAssertion( "ICD9CM:379.14"^^xsd:string) AnnotationAssertion( "localised anterior staphyloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13787"^^xsd:string) AnnotationAssertion(rdfs:label "localized anterior staphyloma"^^xsd:string) SubClassOf( ) # Class: (equatorial staphyloma) AnnotationAssertion( "ICD10CM:H15.81"^^xsd:string) AnnotationAssertion( "ICD9CM:379.13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13788"^^xsd:string) AnnotationAssertion(rdfs:label "equatorial staphyloma"^^xsd:string) SubClassOf( ) # Class: (staphyloma posticum) AnnotationAssertion( "ICD10CM:H15.83"^^xsd:string) AnnotationAssertion( "ICD9CM:379.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13789"^^xsd:string) AnnotationAssertion(rdfs:label "staphyloma posticum"^^xsd:string) SubClassOf( ) # Class: (acute tympanitis) AnnotationAssertion( "ICD10CM:H73.0"^^xsd:string) AnnotationAssertion( "ICD9CM:384.00"^^xsd:string) AnnotationAssertion( "acute myringitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13790"^^xsd:string) AnnotationAssertion(rdfs:label "acute tympanitis"^^xsd:string) SubClassOf( ) # Class: (myringitis bullosa hemorrhagica) AnnotationAssertion(Annotation( "https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm"^^xsd:string) "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H73.01"^^xsd:string) AnnotationAssertion( "ICD9CM:384.01"^^xsd:string) AnnotationAssertion( "bullous myringitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13791"^^xsd:string) AnnotationAssertion(rdfs:label "myringitis bullosa hemorrhagica"^^xsd:string) SubClassOf( ) # Class: (anterior scleritis) AnnotationAssertion( "ICD10CM:H15.01"^^xsd:string) AnnotationAssertion( "ICD9CM:379.03"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13794"^^xsd:string) AnnotationAssertion(rdfs:label "anterior scleritis"^^xsd:string) SubClassOf( ) # Class: (female breast central part cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26060127"^^xsd:string) "A female breast cancer that is located_in the center of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C50.11"^^xsd:string) AnnotationAssertion( "ICD9CM:174.1"^^xsd:string) AnnotationAssertion( "RDO:9001785"^^xsd:string) AnnotationAssertion( "malignant neoplasm of central part of female breast"^^xsd:string) AnnotationAssertion( "malignant neoplasm of central portion of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13799"^^xsd:string) AnnotationAssertion(rdfs:label "female breast central part cancer"^^xsd:string) SubClassOf( ) # Class: (vaginal squamous tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23057430"^^xsd:string) "A vaginal cancer that has_material_basis_in squamous tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40242"^^xsd:string) AnnotationAssertion( "RDO:9004609"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:138"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal squamous tumor"^^xsd:string) SubClassOf( ) # Class: (endometrial cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=444987"^^xsd:string) "A uterine cancer that is located_in tissues lining the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MSH3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:11981"^^xsd:string) AnnotationAssertion( "ICD10CM:C54.1"^^xsd:string) AnnotationAssertion( "MIM:608089"^^xsd:string) AnnotationAssertion( "NCI:C27815"^^xsd:string) AnnotationAssertion( "NCI:C3012"^^xsd:string) AnnotationAssertion( "cancer of endometrium"^^xsd:string) AnnotationAssertion( "cancer of the endometrium"^^xsd:string) AnnotationAssertion( "endometrial Ca"^^xsd:string) AnnotationAssertion( "endometrial cancers"^^xsd:string) AnnotationAssertion( "endometrial neoplasm"^^xsd:string) AnnotationAssertion( "endometrium cancer"^^xsd:string) AnnotationAssertion( "endometrium cancers"^^xsd:string) AnnotationAssertion( "malignant endometrial neoplasm"^^xsd:string) AnnotationAssertion( "malignant neoplasm of endometrium"^^xsd:string) AnnotationAssertion( "neoplasm of endometrium"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of endometrium"^^xsd:string) AnnotationAssertion( "tumor of endometrium"^^xsd:string) AnnotationAssertion( "endometrial cancer, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1380"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inclusion conjunctivitis) AnnotationAssertion(Annotation( "https://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101"^^xsd:string) "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007324"^^xsd:string) AnnotationAssertion( "GARD:6777"^^xsd:string) AnnotationAssertion( "ICD10CM:A74.0"^^xsd:string) AnnotationAssertion( "ICD9CM:077.0"^^xsd:string) AnnotationAssertion( "MESH:D003235"^^xsd:string) AnnotationAssertion( "Inclusion Blennorrhea"^^xsd:string) AnnotationAssertion( "adult inclusion conjunctivitis"^^xsd:string) AnnotationAssertion( "chlamydial conjunctivitis"^^xsd:string) AnnotationAssertion( "inclusion blennorrheas"^^xsd:string) AnnotationAssertion( "inclusion blennorrhoea"^^xsd:string) AnnotationAssertion( "inclusion blenorrhea"^^xsd:string) AnnotationAssertion( "inclusion conjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "paratrachoma"^^xsd:string) AnnotationAssertion( "DOID:13800"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pharyngoconjunctival fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever"^^xsd:string) "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007434"^^xsd:string) AnnotationAssertion( "ICD9CM:077.2"^^xsd:string) AnnotationAssertion( "MESH:D000258"^^xsd:string) AnnotationAssertion( "NCI:C34924"^^xsd:string) AnnotationAssertion( "adenoviral pharyngoconjunctivitis"^^xsd:string) AnnotationAssertion( "human adenovirus infection"^^xsd:string) AnnotationAssertion( "human adenovirus infections"^^xsd:string) AnnotationAssertion( "pharyngo conjunctival fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13801"^^xsd:string) AnnotationAssertion(rdfs:label "pharyngoconjunctival fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial combined hyperlipidemia) AnnotationAssertion(Annotation( "MESH:D006950"^^xsd:string) "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1."^^xsd:string) AnnotationAssertion( "MIM:144250"^^xsd:string) AnnotationAssertion( "EFO:0000492"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.49"^^xsd:string) AnnotationAssertion( "MESH:D006950"^^xsd:string) AnnotationAssertion( "NCI:C35637"^^xsd:string) AnnotationAssertion( "FCHL"^^xsd:string) AnnotationAssertion( "familial combined hyperlipidemias"^^xsd:string) AnnotationAssertion( "familial multiple lipoprotein-type hyperlipidemia"^^xsd:string) AnnotationAssertion( "hyperbetalipoproteinemia with prebetalipoproteinemia"^^xsd:string) AnnotationAssertion( "mixed hyperlipidaemia"^^xsd:string) AnnotationAssertion( "multiple lipoprotein-type hyperlipidemia"^^xsd:string) AnnotationAssertion( "multiple lipoprotein-type hyperlipidemias"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C34708"^^xsd:string) "type IIb hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:13809"^^xsd:string) AnnotationAssertion(rdfs:label "familial combined hyperlipidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fox-Fordyce disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/"^^xsd:string) "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000703"^^xsd:string) AnnotationAssertion( "GARD:6462"^^xsd:string) AnnotationAssertion( "ICD10CM:L75.2"^^xsd:string) AnnotationAssertion( "ICD9CM:705.82"^^xsd:string) AnnotationAssertion( "MESH:D005588"^^xsd:string) AnnotationAssertion( "NCI:C84716"^^xsd:string) AnnotationAssertion( "Apocrine Miliaria"^^xsd:string) AnnotationAssertion( "Fox Fordyce Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1381"^^xsd:string) AnnotationAssertion(rdfs:label "Fox-Fordyce disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial hypercholesterolemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_hypercholesterolemia"^^xsd:string) "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000499"^^xsd:string) AnnotationAssertion( "EFO:0004911"^^xsd:string) AnnotationAssertion( "GARD:10416"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.01"^^xsd:string) AnnotationAssertion( "MIM:143890"^^xsd:string) AnnotationAssertion( "MIM:PS143890"^^xsd:string) AnnotationAssertion( "NCI:C34704"^^xsd:string) AnnotationAssertion( "ORDO:406"^^xsd:string) AnnotationAssertion( "FH"^^xsd:string) AnnotationAssertion( "FHC"^^xsd:string) AnnotationAssertion( "FHCL1"^^xsd:string) AnnotationAssertion( "Fredrickson type IIa hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "Fredrickson type IIa lipidaemia"^^xsd:string) AnnotationAssertion( "HYPERCHOLESTEROLEMIA, FAMILIAL, 1"^^xsd:string) AnnotationAssertion( "HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL"^^xsd:string) AnnotationAssertion( "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL"^^xsd:string) AnnotationAssertion( "LDLR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "familial hyperbetalipoproteinaemia"^^xsd:string) AnnotationAssertion( "familial hypercholesteremia"^^xsd:string) AnnotationAssertion( "familial hypercholesterolemias"^^xsd:string) AnnotationAssertion( "hyperbetalipoproteinemia"^^xsd:string) AnnotationAssertion( "type II hyperlipidemia"^^xsd:string) AnnotationAssertion( "LDL RECEPTOR DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13810"^^xsd:string) AnnotationAssertion(rdfs:label "familial hypercholesterolemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic subinvolution of uterus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18856846"^^xsd:string) "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:621.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13811"^^xsd:string) AnnotationAssertion(rdfs:label "chronic subinvolution of uterus"^^xsd:string) SubClassOf( ) # Class: (adhesions of uterus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26700995"^^xsd:string) "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. (DO)"^^xsd:string) AnnotationAssertion( "band of uterus"^^xsd:string) AnnotationAssertion( "intrauterine adhesions"^^xsd:string) AnnotationAssertion( "intrauterine synechiae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13812"^^xsd:string) AnnotationAssertion(rdfs:label "adhesions of uterus"^^xsd:string) SubClassOf( ) # Class: (hypoglossal nerve disease) AnnotationAssertion(Annotation( "MESH:D020437"^^xsd:string) Annotation( "https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders"^^xsd:string) "A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G52.3"^^xsd:string) AnnotationAssertion( "ICD9CM:352.5"^^xsd:string) AnnotationAssertion( "MESH:D020437"^^xsd:string) AnnotationAssertion( "NCI:C26954"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Palsies"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Palsy"^^xsd:string) AnnotationAssertion( "Hypoglossal Neuralgia"^^xsd:string) AnnotationAssertion( "Hypoglossal Neuralgias"^^xsd:string) AnnotationAssertion( "Hypoglossal Neuropathies"^^xsd:string) AnnotationAssertion( "Hypoglossal Neuropathy"^^xsd:string) AnnotationAssertion( "cranial nerve XII diseases"^^xsd:string) AnnotationAssertion( "cranial nerve XII disorders"^^xsd:string) AnnotationAssertion( "disorder of 12th nerve"^^xsd:string) AnnotationAssertion( "disorder of XII nerve"^^xsd:string) AnnotationAssertion( "disorder of hypoglossal [12th] nerve"^^xsd:string) AnnotationAssertion( "disorder of hypoglossal nerve"^^xsd:string) AnnotationAssertion( "hypoglossal nerve diseases"^^xsd:string) AnnotationAssertion( "twelfth cranial nerve diseases"^^xsd:string) AnnotationAssertion( "twelfth cranial nerve disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13814"^^xsd:string) AnnotationAssertion(rdfs:label "hypoglossal nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphogranuloma venereum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphogranuloma_venereum"^^xsd:string) "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007353"^^xsd:string) AnnotationAssertion( "GARD:9545"^^xsd:string) AnnotationAssertion( "ICD10CM:A55"^^xsd:string) AnnotationAssertion( "ICD9CM:099.1"^^xsd:string) AnnotationAssertion( "MESH:D008219"^^xsd:string) AnnotationAssertion( "NCI:C26822"^^xsd:string) AnnotationAssertion( "Durand-Nicolas-Favre disease"^^xsd:string) AnnotationAssertion( "climatic or tropical bubo"^^xsd:string) AnnotationAssertion( "lymphogranuloma inguinale"^^xsd:string) AnnotationAssertion( "poradenitis inguinale"^^xsd:string) AnnotationAssertion( "strumous bubo"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13819"^^xsd:string) AnnotationAssertion(rdfs:label "lymphogranuloma venereum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (miliaria) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html"^^xsd:string) Annotation( "https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537176/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30725861"^^xsd:string) "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000734"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.3"^^xsd:string) AnnotationAssertion( "MESH:D008883"^^xsd:string) AnnotationAssertion( "NCI:C34820"^^xsd:string) AnnotationAssertion( "eccrine miliaria"^^xsd:string) AnnotationAssertion( "heat rash"^^xsd:string) AnnotationAssertion( "sweat rash"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1382"^^xsd:string) AnnotationAssertion(rdfs:label "miliaria"^^xsd:string) SubClassOf( ) # Class: (tetanic cataract) AnnotationAssertion(Annotation( "https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068"^^xsd:string) "A cataract resulting from hypocalcemia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.42"^^xsd:string) AnnotationAssertion( "NCI:C35068"^^xsd:string) AnnotationAssertion( "hypocalcaemic cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13822"^^xsd:string) AnnotationAssertion(rdfs:label "tetanic cataract"^^xsd:string) SubClassOf( ) # Class: (parasitic eyelid infestation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:373.6"^^xsd:string) AnnotationAssertion( "parasitic infestation of eyelid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13823"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic eyelid infestation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (squamous blepharitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.02"^^xsd:string) AnnotationAssertion( "ICD9CM:373.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13825"^^xsd:string) AnnotationAssertion(rdfs:label "squamous blepharitis"^^xsd:string) SubClassOf( ) # Class: (sweat gland disease) AnnotationAssertion(Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=D013543"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9448199"^^xsd:string) "A skin disease located_in the sweat glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000772"^^xsd:string) AnnotationAssertion( "EFO:1002046"^^xsd:string) AnnotationAssertion( "ICD10CM:L74.9"^^xsd:string) AnnotationAssertion( "ICD9CM:705.9"^^xsd:string) AnnotationAssertion( "MESH:D013543"^^xsd:string) AnnotationAssertion( "sweat gland diseases"^^xsd:string) AnnotationAssertion( "apocrine sweat gland disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1383"^^xsd:string) AnnotationAssertion(rdfs:label "sweat gland disease"^^xsd:string) SubClassOf( ) # Class: (patent ductus arteriosus) AnnotationAssertion(Annotation( "MESH:D004374"^^xsd:string) "A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth."^^xsd:string) AnnotationAssertion( "MIM:607411"^^xsd:string) AnnotationAssertion( "GARD:7342"^^xsd:string) AnnotationAssertion( "ICD10CM:Q25.0"^^xsd:string) AnnotationAssertion( "ICD9CM:747.0"^^xsd:string) AnnotationAssertion( "MESH:D004374"^^xsd:string) AnnotationAssertion( "MIM:PS607411"^^xsd:string) AnnotationAssertion( "NCI:C84492"^^xsd:string) AnnotationAssertion( "ORDO:95485"^^xsd:string) AnnotationAssertion( "PATENT DUCTUS ARTERIOSUS 1"^^xsd:string) AnnotationAssertion( "PDA"^^xsd:string) AnnotationAssertion( "PDA1"^^xsd:string) AnnotationAssertion( "patency of the ductus arteriosus"^^xsd:string) AnnotationAssertion( "patent ductus arteriosus familial"^^xsd:string) AnnotationAssertion( "patent ductus botalli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13832"^^xsd:string) AnnotationAssertion(rdfs:label "patent ductus arteriosus"^^xsd:string) SubClassOf( ) # Class: (extrapyramidal and movement disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.9"^^xsd:string) AnnotationAssertion( "ICD9CM:333.90"^^xsd:string) AnnotationAssertion( "RDO:9004048"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13839"^^xsd:string) AnnotationAssertion(rdfs:label "extrapyramidal and movement disease"^^xsd:string) SubClassOf( ) # Class: (abetalipoproteinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Abetalipoproteinemia"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14"^^xsd:string) "A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. (DO)"^^xsd:string) AnnotationAssertion( "MIM:200100"^^xsd:string) AnnotationAssertion( "GARD:5"^^xsd:string) AnnotationAssertion( "MESH:D000012"^^xsd:string) AnnotationAssertion( "NCI:C84525"^^xsd:string) AnnotationAssertion( "ABL"^^xsd:string) AnnotationAssertion( "Bassen Kornzweig Disease"^^xsd:string) AnnotationAssertion( "Bassen Kornzweig Syndrome"^^xsd:string) AnnotationAssertion( "Betalipoprotein Deficiency Disease"^^xsd:string) AnnotationAssertion( "MTP deficiency"^^xsd:string) AnnotationAssertion( "MTTP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "acanthocytoses"^^xsd:string) AnnotationAssertion( "acanthocytosis"^^xsd:string) AnnotationAssertion( "betalipoprotein deficiency diseases"^^xsd:string) AnnotationAssertion( "microsomal triglyceride transfer protein deficiency"^^xsd:string) AnnotationAssertion( "microsomal triglyceride transfer protein deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1386"^^xsd:string) AnnotationAssertion(rdfs:label "abetalipoproteinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scleroperikeratitis) AnnotationAssertion(Annotation( "https://www.wikidata.org/wiki/Q18554619"^^xsd:string) "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.04"^^xsd:string) AnnotationAssertion( "ICD9CM:379.05"^^xsd:string) AnnotationAssertion( "scleritis with corneal involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13861"^^xsd:string) AnnotationAssertion(rdfs:label "scleroperikeratitis"^^xsd:string) SubClassOf( ) # Class: (acute closed-angle glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string) "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.21"^^xsd:string) AnnotationAssertion( "ICD9CM:365.22"^^xsd:string) AnnotationAssertion( "acute angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13862"^^xsd:string) AnnotationAssertion(rdfs:label "acute closed-angle glaucoma"^^xsd:string) SubClassOf( ) # Class: (trochlear nerve disease) AnnotationAssertion(Annotation( "MESH:D020432"^^xsd:string) "Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS."^^xsd:string) AnnotationAssertion( "EFO:1001220"^^xsd:string) AnnotationAssertion( "ICD10CM:H49.1"^^xsd:string) AnnotationAssertion( "ICD9CM:378.53"^^xsd:string) AnnotationAssertion( "MESH:D020432"^^xsd:string) AnnotationAssertion( "NCI:C180994"^^xsd:string) AnnotationAssertion( "NCI:C78395"^^xsd:string) AnnotationAssertion( "Fourth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Neurogenic Superior Oblique Palsy"^^xsd:string) AnnotationAssertion( "Superior Oblique Myokymia"^^xsd:string) AnnotationAssertion( "Superior Oblique Myokymias"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Disorder"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Disorders"^^xsd:string) AnnotationAssertion( "Trochlear Neuropathies"^^xsd:string) AnnotationAssertion( "cranial nerve IV diseases"^^xsd:string) AnnotationAssertion( "disorder of trochlear nerve"^^xsd:string) AnnotationAssertion( "superior oblique muscle innervation disorder"^^xsd:string) AnnotationAssertion( "trochlear nerve diseases"^^xsd:string) AnnotationAssertion( "trochlear neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13864"^^xsd:string) AnnotationAssertion(rdfs:label "trochlear nerve disease"^^xsd:string) SubClassOf( ) # Class: (facial neuralgia) AnnotationAssertion(Annotation( "MESH:D005156"^^xsd:string) "Neuralgic syndromes which feature chronic or recurrent FACIAL PAIN as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions."^^xsd:string) AnnotationAssertion( "EFO:0009380"^^xsd:string) AnnotationAssertion( "MESH:D005156"^^xsd:string) AnnotationAssertion( "Craniofacial Pain Syndrome"^^xsd:string) AnnotationAssertion( "Facial Neuralgias"^^xsd:string) AnnotationAssertion( "Facial Pain Syndrome"^^xsd:string) AnnotationAssertion( "Facial Pain Syndromes"^^xsd:string) AnnotationAssertion( "Myofacial Pain Syndrome"^^xsd:string) AnnotationAssertion( "Myofacial Pain Syndromes"^^xsd:string) AnnotationAssertion( "Sphenopalatine Neuralgia"^^xsd:string) AnnotationAssertion( "craniofacial pain syndromes"^^xsd:string) AnnotationAssertion( "sphenopalatine neuralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13865"^^xsd:string) AnnotationAssertion(rdfs:label "facial neuralgia"^^xsd:string) SubClassOf( ) # Class: (multiple cranial nerve palsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G52.7"^^xsd:string) AnnotationAssertion( "ICD9CM:352.6"^^xsd:string) AnnotationAssertion( "multiple cranial nerve palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13866"^^xsd:string) AnnotationAssertion(rdfs:label "multiple cranial nerve palsy"^^xsd:string) SubClassOf( ) # Class: (focal labyrinthitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false"^^xsd:string) "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.32"^^xsd:string) AnnotationAssertion( "circumscribed labyrinthitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13867"^^xsd:string) AnnotationAssertion(rdfs:label "focal labyrinthitis"^^xsd:string) SubClassOf( ) # Class: (hypoactive sexual desire disorder) AnnotationAssertion( "Lack or loss of sexual desire."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F52.0"^^xsd:string) AnnotationAssertion( "ICD9CM:302.71"^^xsd:string) AnnotationAssertion( "NCI:C94337"^^xsd:string) AnnotationAssertion( "RDO:9003227"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:192464008"^^xsd:string) "Lack or loss of sexual desire"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13868"^^xsd:string) AnnotationAssertion(rdfs:label "hypoactive sexual desire disorder"^^xsd:string) SubClassOf( ) # Class: (hypolipoproteinemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypolipoproteinemia"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia"^^xsd:string) "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8394"^^xsd:string) AnnotationAssertion( "ICD9CM:272.5"^^xsd:string) AnnotationAssertion( "MESH:D007009"^^xsd:string) AnnotationAssertion( "hypolipoproteinaemia"^^xsd:string) AnnotationAssertion( "hypolipoproteinemias"^^xsd:string) AnnotationAssertion( "hypoprebetalipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Lipoprotein deficiencies"^^xsd:string) AnnotationAssertion( "liipoprotein deficiencies"^^xsd:string) AnnotationAssertion( "DOID:1387"^^xsd:string) AnnotationAssertion(rdfs:label "hypolipoproteinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tangier disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10431236/"^^xsd:string) "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "MIM:205400"^^xsd:string) AnnotationAssertion( "ABCA1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:7731"^^xsd:string) AnnotationAssertion( "MESH:D013631"^^xsd:string) AnnotationAssertion( "NCI:C85182"^^xsd:string) AnnotationAssertion( "ORDO:31150"^^xsd:string) AnnotationAssertion( "A-alphalipoprotein Neuropathy"^^xsd:string) AnnotationAssertion( "A-alphalipoprotein neuropathies"^^xsd:string) AnnotationAssertion( "Alpha High Density Lipoprotein Deficiency Disease"^^xsd:string) AnnotationAssertion( "Analphalipoproteinemias"^^xsd:string) AnnotationAssertion( "Cholesterol Thesaurismoses"^^xsd:string) AnnotationAssertion( "Cholesterol Thesaurismosis"^^xsd:string) AnnotationAssertion( "HDLDT1"^^xsd:string) AnnotationAssertion( "High Density Lipoprotein Deficiency, Tangier Type"^^xsd:string) AnnotationAssertion( "High Density Lipoprotein Deficiency, Type 1"^^xsd:string) AnnotationAssertion( "High Density Lipoprotein Deficiency, Type I"^^xsd:string) AnnotationAssertion( "Neuropathy of Tangier Disease"^^xsd:string) AnnotationAssertion( "TGD"^^xsd:string) AnnotationAssertion( "Tangier disease neuropathy"^^xsd:string) AnnotationAssertion( "Tangier hereditary neuropathy"^^xsd:string) AnnotationAssertion( "analphalipoproteinemia"^^xsd:string) AnnotationAssertion( "familial alpha-lipoprotein deficiency"^^xsd:string) AnnotationAssertion( "familial high density lipoprotein deficiency"^^xsd:string) AnnotationAssertion( "familial hypoalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABCA1 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:1388"^^xsd:string) AnnotationAssertion(rdfs:label "Tangier disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sick sinus syndrome) AnnotationAssertion(Annotation( "MESH:D012804"^^xsd:string) "A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects."^^xsd:string) AnnotationAssertion( "EFO:0004275"^^xsd:string) AnnotationAssertion( "ICD10CM:I49.5"^^xsd:string) AnnotationAssertion( "MESH:D012804"^^xsd:string) AnnotationAssertion( "MIM:PS608567"^^xsd:string) AnnotationAssertion( "MONDO:0001823"^^xsd:string) AnnotationAssertion( "NCI:C62243"^^xsd:string) AnnotationAssertion( "NCI:C62244"^^xsd:string) AnnotationAssertion( "ORDO:166282"^^xsd:string) AnnotationAssertion( "Dysfunctions, Sinus Node"^^xsd:string) AnnotationAssertion( "Sick Sinus Node Syndrome"^^xsd:string) AnnotationAssertion( "Sinus Node Disease"^^xsd:string) AnnotationAssertion( "Sinus Node Diseases"^^xsd:string) AnnotationAssertion( "Sinus Node Dysfunction"^^xsd:string) AnnotationAssertion( "sinus node infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13884"^^xsd:string) AnnotationAssertion(rdfs:label "sick sinus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polyneuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polyneuropathy"^^xsd:string) Annotation( "https://www.virginiamason.org/polyneuropathy"^^xsd:string) "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001292"^^xsd:string) AnnotationAssertion( "EFO:0009562"^^xsd:string) AnnotationAssertion( "MESH:D011115"^^xsd:string) AnnotationAssertion( "NCI:C26951"^^xsd:string) AnnotationAssertion( "Acquired Polyneuropathy"^^xsd:string) AnnotationAssertion( "Critical Illness Polyneuropathy"^^xsd:string) AnnotationAssertion( "Familial Polyneuropathies"^^xsd:string) AnnotationAssertion( "Familial Polyneuropathy"^^xsd:string) AnnotationAssertion( "Inherited Polyneuropathies"^^xsd:string) AnnotationAssertion( "Inherited Polyneuropathy"^^xsd:string) AnnotationAssertion( "acquired polyneuropathies"^^xsd:string) AnnotationAssertion( "critical illness polyneuropathies"^^xsd:string) AnnotationAssertion( "motor polyneuropathies"^^xsd:string) AnnotationAssertion( "motor polyneuropathy"^^xsd:string) AnnotationAssertion( "multifocal motor neuropathy"^^xsd:string) AnnotationAssertion( "polyneuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1389"^^xsd:string) AnnotationAssertion(rdfs:label "polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (bird fancier's lung) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf"^^xsd:string) "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007170"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.2"^^xsd:string) AnnotationAssertion( "ICD9CM:495.2"^^xsd:string) AnnotationAssertion( "MESH:D001716"^^xsd:string) AnnotationAssertion( "NCI:C34425"^^xsd:string) AnnotationAssertion( "Avian Hypersensitivity Pneumonitis"^^xsd:string) AnnotationAssertion( "Bird Fancier Lung"^^xsd:string) AnnotationAssertion( "Bird Fancier's Lungs"^^xsd:string) AnnotationAssertion( "Bird Fanciers Lung"^^xsd:string) AnnotationAssertion( "Budgerigar Fancier Lung"^^xsd:string) AnnotationAssertion( "Budgerigar Fancier's Lung"^^xsd:string) AnnotationAssertion( "Budgerigar Fancier's Lungs"^^xsd:string) AnnotationAssertion( "Budgerigar Fanciers Lung"^^xsd:string) AnnotationAssertion( "Pigeon Breeder Lung"^^xsd:string) AnnotationAssertion( "Pigeon Breeder's Lung"^^xsd:string) AnnotationAssertion( "avian hypersensitivity pneumonitides"^^xsd:string) AnnotationAssertion( "bird breeder's lung"^^xsd:string) AnnotationAssertion( "pigeon breeders lung"^^xsd:string) AnnotationAssertion( "poultry worker's lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13891"^^xsd:string) AnnotationAssertion(rdfs:label "bird fancier's lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (squamous cell papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001970"^^xsd:string) AnnotationAssertion( "ICDO:8052/0"^^xsd:string) AnnotationAssertion( "NCI:C3712"^^xsd:string) AnnotationAssertion( "RDO:9003790"^^xsd:string) AnnotationAssertion( "epidermoid papilloma"^^xsd:string) AnnotationAssertion( "squamous cell papillomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:139"^^xsd:string) AnnotationAssertion(rdfs:label "squamous cell papilloma"^^xsd:string) SubClassOf( ) # Class: (hypobetalipoproteinemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypobetalipoproteinemia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15818469"^^xsd:string) "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006995"^^xsd:string) AnnotationAssertion( "FHBL"^^xsd:string) AnnotationAssertion( "familial hypobetalipoproteinemia"^^xsd:string) AnnotationAssertion( "hypo beta lipoproteinemia"^^xsd:string) AnnotationAssertion( "hypo beta lipoproteinemias"^^xsd:string) AnnotationAssertion( "hypobetalipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1390"^^xsd:string) AnnotationAssertion(rdfs:label "hypobetalipoproteinemia"^^xsd:string) SubClassOf( ) # Class: (white piedra) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/"^^xsd:string) "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.2"^^xsd:string) AnnotationAssertion( "ICD9CM:111.2"^^xsd:string) AnnotationAssertion( "tinea blanca"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13902"^^xsd:string) AnnotationAssertion(rdfs:label "white piedra"^^xsd:string) SubClassOf( ) # Class: (red-green color blindness) AnnotationAssertion( "EFO:0005581"^^xsd:string) AnnotationAssertion( "ICD9CM:368.52"^^xsd:string) AnnotationAssertion( "MIM:303800"^^xsd:string) AnnotationAssertion( "ORDO:319698"^^xsd:string) AnnotationAssertion( "CBD"^^xsd:string) AnnotationAssertion( "DCB"^^xsd:string) AnnotationAssertion( "Partial Colorblindness, Deutan Series"^^xsd:string) AnnotationAssertion( "deutan colorblindness"^^xsd:string) AnnotationAssertion( "deutan defect"^^xsd:string) AnnotationAssertion( "deuteranopia"^^xsd:string) AnnotationAssertion( "reduced red-green discrimination"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13909"^^xsd:string) AnnotationAssertion(rdfs:label "red-green color blindness"^^xsd:string) SubClassOf( ) # Class: (Norum disease) AnnotationAssertion(Annotation( "MESH:D007863"^^xsd:string) "An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure."^^xsd:string) AnnotationAssertion( "MIM:136120"^^xsd:string) AnnotationAssertion( "MIM:245900"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.6"^^xsd:string) AnnotationAssertion( "MESH:D007863"^^xsd:string) AnnotationAssertion( "NCI:C84813"^^xsd:string) AnnotationAssertion( "FED"^^xsd:string) AnnotationAssertion( "Fish Eye Disease"^^xsd:string) AnnotationAssertion( "LCAT deficiency"^^xsd:string) AnnotationAssertion( "LCAT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LCATA Deficiencies"^^xsd:string) AnnotationAssertion( "LCATA Deficiency"^^xsd:string) AnnotationAssertion( "alpha LCAT deficiency"^^xsd:string) AnnotationAssertion( "alpha Lecithin Cholesterol Acyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "dyslipoproteinemic corneal dystrophy"^^xsd:string) AnnotationAssertion( "lecithin acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "lecithin cholesterol acyltransferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOLIPOPROTEIN A-I (GIESSEN)"^^xsd:string) AnnotationAssertion( "DOID:1391"^^xsd:string) AnnotationAssertion(rdfs:label "Norum disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (red color blindness) AnnotationAssertion( "EFO:0005580"^^xsd:string) AnnotationAssertion( "ICD9CM:368.51"^^xsd:string) AnnotationAssertion( "MIM:303900"^^xsd:string) AnnotationAssertion( "CBP"^^xsd:string) AnnotationAssertion( "partial colorblindness, protan series"^^xsd:string) AnnotationAssertion( "protan defect"^^xsd:string) AnnotationAssertion( "protanopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "protanomaly"^^xsd:string) AnnotationAssertion( "DOID:13910"^^xsd:string) AnnotationAssertion(rdfs:label "red color blindness"^^xsd:string) SubClassOf( ) # Class: (achromatopsia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achromatopsia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1418/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382"^^xsd:string) Annotation( "http://www.sciencedirect.com/science/article/pii/S0161642009010008"^^xsd:string) "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.51"^^xsd:string) AnnotationAssertion( "ICD9CM:368.54"^^xsd:string) AnnotationAssertion( "NCI:C84528"^^xsd:string) AnnotationAssertion( "ORDO:49382"^^xsd:string) AnnotationAssertion( "RDO:9004252"^^xsd:string) AnnotationAssertion( "ACHM"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:368.54"^^xsd:string) "monochromatism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13911"^^xsd:string) AnnotationAssertion(rdfs:label "achromatopsia"^^xsd:string) SubClassOf( ) # Class: (acquired color blindness) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.52"^^xsd:string) AnnotationAssertion( "ICD9CM:368.55"^^xsd:string) AnnotationAssertion( "NCI:C118712"^^xsd:string) AnnotationAssertion( "acquired color vision deficiencies"^^xsd:string) AnnotationAssertion( "acquired color vision deficiency"^^xsd:string) AnnotationAssertion( "acquired colour blindness"^^xsd:string) AnnotationAssertion( "acquired colour vision deficiencies"^^xsd:string) AnnotationAssertion( "acquired colour vision deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13912"^^xsd:string) AnnotationAssertion(rdfs:label "acquired color blindness"^^xsd:string) SubClassOf( ) # Class: (lumbosacral plexus lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:353.1"^^xsd:string) AnnotationAssertion( "lumbosacral plexus lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13913"^^xsd:string) AnnotationAssertion(rdfs:label "lumbosacral plexus lesion"^^xsd:string) SubClassOf( ) # Class: (somatization disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Somatization_disorder"^^xsd:string) "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F45.0"^^xsd:string) AnnotationAssertion( "ICD9CM:300.81"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:300.81"^^xsd:string) "Briquet's disorder"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:192431008"^^xsd:string) "somatisation disorder"^^xsd:string) AnnotationAssertion( "somatization disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:397795007"^^xsd:string) "polysomatising disorder"^^xsd:string) AnnotationAssertion( "DOID:13918"^^xsd:string) AnnotationAssertion(rdfs:label "somatization disorder"^^xsd:string) SubClassOf( ) # Class: (irregular astigmatism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.21"^^xsd:string) AnnotationAssertion( "ICD9CM:367.22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13919"^^xsd:string) AnnotationAssertion(rdfs:label "irregular astigmatism"^^xsd:string) SubClassOf( ) # Class: (pseudopapilledema) AnnotationAssertion( "MIM:177800"^^xsd:string) AnnotationAssertion( "ICD9CM:377.24"^^xsd:string) AnnotationAssertion( "MESH:C562401"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1392"^^xsd:string) AnnotationAssertion(rdfs:label "pseudopapilledema"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bacterial esophagitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27106"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13921"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eosinophilic esophagitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eosinophilic_esophagitis"^^xsd:string) "An esophagitis characterized by inflammation involving eosinophils located_in esophagus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610247"^^xsd:string) AnnotationAssertion( "MIM:613412"^^xsd:string) AnnotationAssertion( "EFO:0004232"^^xsd:string) AnnotationAssertion( "EFO:0004594"^^xsd:string) AnnotationAssertion( "ICD10CM:K20.0"^^xsd:string) AnnotationAssertion( "ICD9CM:530.13"^^xsd:string) AnnotationAssertion( "MESH:D057765"^^xsd:string) AnnotationAssertion( "NCI:C27105"^^xsd:string) AnnotationAssertion( "ORDO:73247"^^xsd:string) AnnotationAssertion( "EE"^^xsd:string) AnnotationAssertion( "EOE1"^^xsd:string) AnnotationAssertion( "EOE2"^^xsd:string) AnnotationAssertion( "Eosinophilic Chronic Esophagitides"^^xsd:string) AnnotationAssertion( "Eosinophilic Chronic Esophagitis"^^xsd:string) AnnotationAssertion( "Eosinophilic Esophagitides"^^xsd:string) AnnotationAssertion( "eosinophilic esophagitis 1"^^xsd:string) AnnotationAssertion( "eosinophilic esophagitis 2"^^xsd:string) AnnotationAssertion( "esophageal eosinophilia"^^xsd:string) AnnotationAssertion( "childhood eosinophilic esophagitis"^^xsd:string) AnnotationAssertion( "pediatric eosinophilic esophagitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13922"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (necrotizing ulcerative gingivitis) AnnotationAssertion( "An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA."^^xsd:string) AnnotationAssertion( "EFO:1001058"^^xsd:string) AnnotationAssertion( "GARD:5736"^^xsd:string) AnnotationAssertion( "ICD10CM:A69.1"^^xsd:string) AnnotationAssertion( "ICD9CM:101"^^xsd:string) AnnotationAssertion( "MESH:D005892"^^xsd:string) AnnotationAssertion( "MONDO:0006865"^^xsd:string) AnnotationAssertion( "NCI:C34637"^^xsd:string) AnnotationAssertion( "ANUG"^^xsd:string) AnnotationAssertion( "Acute Membranous Gingivitis"^^xsd:string) AnnotationAssertion( "Acute Necrotizing Ulcerative Gingivitis"^^xsd:string) AnnotationAssertion( "Angina - Vincents"^^xsd:string) AnnotationAssertion( "Fusospirillary Gingivitis"^^xsd:string) AnnotationAssertion( "Fusospirillary gingivitides"^^xsd:string) AnnotationAssertion( "Fusospirilloses"^^xsd:string) AnnotationAssertion( "Fusospirillosis"^^xsd:string) AnnotationAssertion( "Phagedenic Gingivitides"^^xsd:string) AnnotationAssertion( "Phagedenic Gingivitis"^^xsd:string) AnnotationAssertion( "Trench Mouth"^^xsd:string) AnnotationAssertion( "Vincent Angina"^^xsd:string) AnnotationAssertion( "Vincent Gingivitis"^^xsd:string) AnnotationAssertion( "Vincent Infection"^^xsd:string) AnnotationAssertion( "Vincent anginas"^^xsd:string) AnnotationAssertion( "Vincent stomatitis"^^xsd:string) AnnotationAssertion( "Vincent's Gingivitis"^^xsd:string) AnnotationAssertion( "Vincent's Infection"^^xsd:string) AnnotationAssertion( "Vincent's angina"^^xsd:string) AnnotationAssertion( "Vincent's angina - pharyngitis"^^xsd:string) AnnotationAssertion( "Vincent's disease"^^xsd:string) AnnotationAssertion( "Vincent's infection, any site"^^xsd:string) AnnotationAssertion( "Vincent's stomatitis"^^xsd:string) AnnotationAssertion( "Vincents Gingivitis"^^xsd:string) AnnotationAssertion( "Vincents Infection"^^xsd:string) AnnotationAssertion( "Vincents stomatitis"^^xsd:string) AnnotationAssertion( "acute membranous gingivitides"^^xsd:string) AnnotationAssertion( "acute necrotising ulcerative gingivitis"^^xsd:string) AnnotationAssertion( "acute necrotising ulcerative gingivostomatitis"^^xsd:string) AnnotationAssertion( "acute necrotizing ulcerative gingivostomatitis"^^xsd:string) AnnotationAssertion( "acute ulceromembranous gingivitis"^^xsd:string) AnnotationAssertion( "early acute necrotising gingivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13924"^^xsd:string) AnnotationAssertion(rdfs:label "necrotizing ulcerative gingivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal duct obstruction) AnnotationAssertion(Annotation( "MESH:D007767"^^xsd:string) "Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)"^^xsd:string) AnnotationAssertion( "MIM:149700"^^xsd:string) AnnotationAssertion( "MESH:D007767"^^xsd:string) AnnotationAssertion( "NCI:C34757"^^xsd:string) AnnotationAssertion( "LCDD"^^xsd:string) AnnotationAssertion( "Lacrimal Duct Obstructions"^^xsd:string) AnnotationAssertion( "NASOLACRIMAL DUCT OBSTRUCTION"^^xsd:string) AnnotationAssertion( "Tear Duct Obstruction"^^xsd:string) AnnotationAssertion( "blocked lacrimal canaliculus"^^xsd:string) AnnotationAssertion( "lacrimal duct defect"^^xsd:string) AnnotationAssertion( "obstruction of lacrimal canaliculus"^^xsd:string) AnnotationAssertion( "obstruction of lacrimal ducts"^^xsd:string) AnnotationAssertion( "tear duct obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13929"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal duct obstruction"^^xsd:string) SubClassOf( ) # Class: (visual pathway disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342"^^xsd:string) "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.9"^^xsd:string) AnnotationAssertion( "NCI:C35342"^^xsd:string) AnnotationAssertion( "RDO:9002702"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1393"^^xsd:string) AnnotationAssertion(rdfs:label "visual pathway disease"^^xsd:string) SubClassOf( ) # Class: (facial paralysis) AnnotationAssertion(Annotation( "MESH:D005158"^^xsd:string) "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis."^^xsd:string) AnnotationAssertion( "ICD10CM:G51.0"^^xsd:string) AnnotationAssertion( "MESH:D005158"^^xsd:string) AnnotationAssertion( "NCI:C26769"^^xsd:string) AnnotationAssertion( "Central Facial Paralysis"^^xsd:string) AnnotationAssertion( "Facial Palsy"^^xsd:string) AnnotationAssertion( "Facial Paralyses, Peripheral"^^xsd:string) AnnotationAssertion( "Facial Paresis"^^xsd:string) AnnotationAssertion( "Hemifacial Paralysis"^^xsd:string) AnnotationAssertion( "Lower Motor Neuron Facial Palsy"^^xsd:string) AnnotationAssertion( "Paralyses, Facial"^^xsd:string) AnnotationAssertion( "Paralyses, Hemifacial"^^xsd:string) AnnotationAssertion( "Pareses, Facial"^^xsd:string) AnnotationAssertion( "central facial paralyses"^^xsd:string) AnnotationAssertion( "facial palsies"^^xsd:string) AnnotationAssertion( "peripheral facial paralysis"^^xsd:string) AnnotationAssertion( "upper motor neuron facial palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13934"^^xsd:string) AnnotationAssertion(rdfs:label "facial paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amenorrhea) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23939500"^^xsd:string) "A female reproductive system disease that is characterized by the absence of menstruation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010269"^^xsd:string) AnnotationAssertion( "ICD10CM:N91.2"^^xsd:string) AnnotationAssertion( "ICD9CM:626.0"^^xsd:string) AnnotationAssertion( "MESH:D000568"^^xsd:string) AnnotationAssertion( "NCI:C61443"^^xsd:string) AnnotationAssertion( "absence of menstruation"^^xsd:string) AnnotationAssertion( "amenia"^^xsd:string) AnnotationAssertion( "postpartum amenorrhea"^^xsd:string) AnnotationAssertion( "postpartum amenorrheas"^^xsd:string) AnnotationAssertion( "primary amenorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13938"^^xsd:string) AnnotationAssertion(rdfs:label "amenorrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urinary schistosomiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schistosoma_haematobium"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm"^^xsd:string) "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007530"^^xsd:string) AnnotationAssertion( "ICD9CM:120.0"^^xsd:string) AnnotationAssertion( "MESH:D012553"^^xsd:string) AnnotationAssertion( "NCI:C35362"^^xsd:string) AnnotationAssertion( "NCI:C39294"^^xsd:string) AnnotationAssertion( "Schistosoma hematobium infectious disease"^^xsd:string) AnnotationAssertion( "Schistosomiasis Haematobia"^^xsd:string) AnnotationAssertion( "Schistosomiasis haematobium"^^xsd:string) AnnotationAssertion( "Urinary Schistosomiases"^^xsd:string) AnnotationAssertion( "Urogenital Schistosomiases"^^xsd:string) AnnotationAssertion( "Urogenital Schistosomiasis"^^xsd:string) AnnotationAssertion( "bladder schistosomiasis"^^xsd:string) AnnotationAssertion( "cystitis with bilharziasis"^^xsd:string) AnnotationAssertion( "schistosoma haematobium"^^xsd:string) AnnotationAssertion( "schistosoma hematobium infection"^^xsd:string) AnnotationAssertion( "schistosomiasis due to schistosoma haematobium"^^xsd:string) AnnotationAssertion( "schistosomiasis of bladder"^^xsd:string) AnnotationAssertion( "vesical schistosomiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Schistosoma haematobium infection"^^xsd:string) AnnotationAssertion( "DOID:1394"^^xsd:string) AnnotationAssertion(rdfs:label "urinary schistosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (benign paroxysmal positional vertigo) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8290084/"^^xsd:string) "A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5915"^^xsd:string) AnnotationAssertion( "ICD9CM:386.11"^^xsd:string) AnnotationAssertion( "MESH:D065635"^^xsd:string) AnnotationAssertion( "BPPV"^^xsd:string) AnnotationAssertion( "BRV"^^xsd:string) AnnotationAssertion( "Familial Benign Recurrent Vertigo"^^xsd:string) AnnotationAssertion( "Familial Vestibulopathies"^^xsd:string) AnnotationAssertion( "Familial Vestibulopathy"^^xsd:string) AnnotationAssertion( "benign paroxysmal positional nystagmus"^^xsd:string) AnnotationAssertion( "benign recurrent vertigo"^^xsd:string) AnnotationAssertion( "benign recurrent vertigos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13941"^^xsd:string) AnnotationAssertion(rdfs:label "benign paroxysmal positional vertigo"^^xsd:string) SubClassOf( ) # Class: (acute gonococcal salpingitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.17"^^xsd:string) AnnotationAssertion( "gonococcal salpingitis, specified as acute"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13942"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal salpingitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute gonococcal prostatitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.12"^^xsd:string) AnnotationAssertion( "gonococcal prostatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13943"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal prostatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CADASIL) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10476042"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8878478"^^xsd:string) "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1049"^^xsd:string) AnnotationAssertion( "ICD10CM:I67.850"^^xsd:string) AnnotationAssertion( "MESH:D046589"^^xsd:string) AnnotationAssertion( "MIM:PS125310"^^xsd:string) AnnotationAssertion( "NCI:C84606"^^xsd:string) AnnotationAssertion( "ORDO:136"^^xsd:string) AnnotationAssertion( "CADASILM"^^xsd:string) AnnotationAssertion( "CASIL"^^xsd:string) AnnotationAssertion( "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"^^xsd:string) AnnotationAssertion( "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"^^xsd:string) AnnotationAssertion( "hereditary dementia, multi infarct type"^^xsd:string) AnnotationAssertion( "hereditary multi-infarct dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13945"^^xsd:string) AnnotationAssertion(rdfs:label "CADASIL"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder neck obstruction) AnnotationAssertion(Annotation( "MESH:D001748"^^xsd:string) "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands."^^xsd:string) AnnotationAssertion( "RDO:0005014"^^xsd:string) AnnotationAssertion( "EFO:1000840"^^xsd:string) AnnotationAssertion( "ICD10CM:N32.0"^^xsd:string) AnnotationAssertion( "ICD9CM:596.0"^^xsd:string) AnnotationAssertion( "MESH:D001748"^^xsd:string) AnnotationAssertion( "NCI:C79541"^^xsd:string) AnnotationAssertion( "Bladder Outlet Obstruction"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:596.0"^^xsd:string) "Obstruction of bladder neck or vesicourethral orifice"^^xsd:string) AnnotationAssertion( "urinary bladder neck obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13948"^^xsd:string) AnnotationAssertion(rdfs:label "bladder neck obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (interstitial cystitis) AnnotationAssertion(Annotation( "MESH:D018856"^^xsd:string) "A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency."^^xsd:string) AnnotationAssertion( "EFO:0008507"^^xsd:string) AnnotationAssertion( "GARD:6787"^^xsd:string) AnnotationAssertion( "MESH:D018856"^^xsd:string) AnnotationAssertion( "NCI:C27189"^^xsd:string) AnnotationAssertion( "interstitial cystitides"^^xsd:string) AnnotationAssertion( "painful bladder syndrome"^^xsd:string) AnnotationAssertion( "ulcerative cystitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13949"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial cystitis"^^xsd:string) SubClassOf( ) # Class: (schistosomiasis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001475"^^xsd:string) AnnotationAssertion( "GARD:9687"^^xsd:string) AnnotationAssertion( "ICD9CM:120.8"^^xsd:string) AnnotationAssertion( "MESH:D012552"^^xsd:string) AnnotationAssertion( "Bilharziasis"^^xsd:string) AnnotationAssertion( "Katayama Fever"^^xsd:string) AnnotationAssertion( "bilharziases"^^xsd:string) AnnotationAssertion( "schistosomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1395"^^xsd:string) AnnotationAssertion(rdfs:label "schistosomiasis"^^xsd:string) SubClassOf( ) # Class: (uterine corpus epithelioid leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid"^^xsd:string) "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13951"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus epithelioid leiomyoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus dissecting leiomyoma) AnnotationAssertion(Annotation( "http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23370645"^^xsd:string) "A uterine fibroid that is characterized by the presence of intramural tearing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13953"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus dissecting leiomyoma"^^xsd:string) SubClassOf( ) # Class: (uterus interstitial leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html"^^xsd:string) "An uterine fibroid that is located within the myometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D25.1"^^xsd:string) AnnotationAssertion( "ICD9CM:218.1"^^xsd:string) AnnotationAssertion( "intramural leiomyoma of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13955"^^xsd:string) AnnotationAssertion(rdfs:label "uterus interstitial leiomyoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus myxoid leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html"^^xsd:string) "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40166"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13956"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus myxoid leiomyoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus lipoleiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/"^^xsd:string) "An uterine fibroid that is characterized by the presence of adipocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000614"^^xsd:string) AnnotationAssertion( "NCI:C40168"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13957"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus lipoleiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus bizarre leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html"^^xsd:string) "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40167"^^xsd:string) AnnotationAssertion( "uterine corpus symplastic leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13958"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus bizarre leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nuclear senile cataract) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cataract"^^xsd:string) "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.16"^^xsd:string) AnnotationAssertion( "RDO:9004350"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:366.16"^^xsd:string) "Senile nuclear sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13963"^^xsd:string) AnnotationAssertion(rdfs:label "nuclear senile cataract"^^xsd:string) SubClassOf( ) # Class: (Morgagni cataract) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Morgagnian_Cataract"^^xsd:string) "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.18"^^xsd:string) AnnotationAssertion( "RDO:9004351"^^xsd:string) AnnotationAssertion( "hypermature cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13964"^^xsd:string) AnnotationAssertion(rdfs:label "Morgagni cataract"^^xsd:string) SubClassOf( ) # Class: (chronic orbital inflammation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.1"^^xsd:string) AnnotationAssertion( "ICD9CM:376.1"^^xsd:string) AnnotationAssertion( "RDO:9003000"^^xsd:string) AnnotationAssertion( "chronic inflammation of orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1397"^^xsd:string) AnnotationAssertion(rdfs:label "chronic orbital inflammation"^^xsd:string) SubClassOf( ) # Class: (female breast lower-outer quadrant cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string) "A female breast cancer that is located_in the lower-outer qudrant of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C50.51"^^xsd:string) AnnotationAssertion( "ICD9CM:174.5"^^xsd:string) AnnotationAssertion( "RDO:9001786"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower-outer quadrant of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13972"^^xsd:string) AnnotationAssertion(rdfs:label "female breast lower-outer quadrant cancer"^^xsd:string) SubClassOf( ) # Class: (peptic esophagitis) AnnotationAssertion(Annotation( "MESH:D004942"^^xsd:string) "INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM."^^xsd:string) AnnotationAssertion( "EFO:1001095"^^xsd:string) AnnotationAssertion( "ICD9CM:530.11"^^xsd:string) AnnotationAssertion( "MESH:D004942"^^xsd:string) AnnotationAssertion( "Peptic Esophagitides"^^xsd:string) AnnotationAssertion( "Reflux Esophagitides"^^xsd:string) AnnotationAssertion( "Reflux Esophagitis"^^xsd:string) AnnotationAssertion( "peptic reflux disease"^^xsd:string) AnnotationAssertion( "reflux oesophagitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13976"^^xsd:string) AnnotationAssertion(rdfs:label "peptic esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parasitic infectious disease) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071"^^xsd:string) "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001067"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.12"^^xsd:string) AnnotationAssertion( "ICD9CM:360.13"^^xsd:string) AnnotationAssertion( "MESH:D010272"^^xsd:string) AnnotationAssertion( "NCI:C34587"^^xsd:string) AnnotationAssertion( "Parasitic Disease"^^xsd:string) AnnotationAssertion( "Parasitic Diseases"^^xsd:string) AnnotationAssertion( "ectoparasitic disease"^^xsd:string) AnnotationAssertion( "parasite infection"^^xsd:string) AnnotationAssertion( "parasite infections"^^xsd:string) AnnotationAssertion( "parasitemia"^^xsd:string) AnnotationAssertion( "parasitic infection"^^xsd:string) AnnotationAssertion( "parasitic infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1398"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "parasitic infectious disease"^^xsd:string) SubClassOf( ) # Class: (primary lacrimal atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:375.13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1399"^^xsd:string) AnnotationAssertion(rdfs:label "primary lacrimal atrophy"^^xsd:string) SubClassOf( ) # Class: (cleidocranial dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cleidocranial_dysostosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/cleidocranial-dysplasia-1"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm"^^xsd:string) Annotation( "https://www.faces-cranio.org/cleidocranial"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119600"^^xsd:string) AnnotationAssertion( "RUNX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0004153"^^xsd:string) AnnotationAssertion( "GARD:6118"^^xsd:string) AnnotationAssertion( "ICD10CM:Q74.0"^^xsd:string) AnnotationAssertion( "MESH:D002973"^^xsd:string) AnnotationAssertion( "MONDO:0007340"^^xsd:string) AnnotationAssertion( "NCI:C75020"^^xsd:string) AnnotationAssertion( "ORDO:1452"^^xsd:string) AnnotationAssertion( "CCD"^^xsd:string) AnnotationAssertion( "CLCD1"^^xsd:string) AnnotationAssertion( "Marie Sainton syndrome"^^xsd:string) AnnotationAssertion( "Marie-Sainton disease"^^xsd:string) AnnotationAssertion( "Scheuthauer Marie Sainton syndrome"^^xsd:string) AnnotationAssertion( "cleidocranial digital dysostoses"^^xsd:string) AnnotationAssertion( "cleidocranial digital dysostosis"^^xsd:string) AnnotationAssertion( "cleidocranial dysostoses"^^xsd:string) AnnotationAssertion( "cleidocranial dysostosis"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia 1"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasias"^^xsd:string) AnnotationAssertion( "CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE"^^xsd:string) AnnotationAssertion( "LARGE FONTANELLES"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia 1, forme fruste, dental anomalies only"^^xsd:string) AnnotationAssertion( "cleidocranial dysplasia 1, forme fruste, with brachydactyly"^^xsd:string) AnnotationAssertion( "severe cleidocranial dysplasia with osteoporosis and scoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13994"^^xsd:string) AnnotationAssertion(rdfs:label "cleidocranial dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (small intestine lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4007"^^xsd:string) AnnotationAssertion( "small intestinal lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13996"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (contact blepharoconjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.53"^^xsd:string) AnnotationAssertion( "ICD9CM:372.22"^^xsd:string) AnnotationAssertion( "RDO:9003495"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:13999"^^xsd:string) AnnotationAssertion(rdfs:label "contact blepharoconjunctivitis"^^xsd:string) SubClassOf( ) # Class: (lacrimal apparatus disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809"^^xsd:string) "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009455"^^xsd:string) AnnotationAssertion( "ICD10CM:H04"^^xsd:string) AnnotationAssertion( "ICD9CM:375"^^xsd:string) AnnotationAssertion( "MESH:D007766"^^xsd:string) AnnotationAssertion( "NCI:C26809"^^xsd:string) AnnotationAssertion( "lacrimal apparatus diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1400"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal apparatus disease"^^xsd:string) SubClassOf( ) # Class: (rubeosis iridis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H21.1"^^xsd:string) AnnotationAssertion( "ICD9CM:364.42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14000"^^xsd:string) AnnotationAssertion(rdfs:label "rubeosis iridis"^^xsd:string) SubClassOf( ) # Class: (thoracic aortic aneurysm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm"^^xsd:string) "An aortic aneurysm that is located_in the thoracic aorta. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004282"^^xsd:string) AnnotationAssertion( "EFO:0010163"^^xsd:string) AnnotationAssertion( "MESH:D017545"^^xsd:string) AnnotationAssertion( "MIM:PS607086"^^xsd:string) AnnotationAssertion( "NCI:C27001"^^xsd:string) AnnotationAssertion( "ORDO:91387"^^xsd:string) AnnotationAssertion( "Thoracic Aortic Aneurysms"^^xsd:string) AnnotationAssertion( "Thoracic Aortic Aneurysms and Aortic Dissections"^^xsd:string) AnnotationAssertion( "Thoracic Aortic Aneurysms and Dissections"^^xsd:string) AnnotationAssertion( "Thoracoabdominal Aortic Aneurysm"^^xsd:string) AnnotationAssertion( "thoracic aortic aneurysm and aortic dissection"^^xsd:string) AnnotationAssertion( "thoracoabdominal aortic aneurysms"^^xsd:string) AnnotationAssertion( "ISOLATED THORACIC AORTIC ANEURYSM"^^xsd:string) AnnotationAssertion( "dilatation of the sinus of Valsalva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14004"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic aortic aneurysm"^^xsd:string) SubClassOf( ) # Class: (splenic artery aneurysm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:442.83"^^xsd:string) AnnotationAssertion( "RDO:9002814"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14006"^^xsd:string) AnnotationAssertion(rdfs:label "splenic artery aneurysm"^^xsd:string) SubClassOf( ) # Class: (alcoholic liver cirrhosis) AnnotationAssertion(Annotation( "MESH:D008104"^^xsd:string) "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING."^^xsd:string) AnnotationAssertion( "EFO:1000802"^^xsd:string) AnnotationAssertion( "ICD10CM:K70.3"^^xsd:string) AnnotationAssertion( "ICD9CM:571.2"^^xsd:string) AnnotationAssertion( "MESH:D008104"^^xsd:string) AnnotationAssertion( "NCI:C34782"^^xsd:string) AnnotationAssertion( "Alcoholic Cirrhosis"^^xsd:string) AnnotationAssertion( "Alcoholic Hepatic Cirrhosis"^^xsd:string) AnnotationAssertion( "Laennec's cirrhosis"^^xsd:string) AnnotationAssertion( "Laennec's cirrhosis, alcoholic"^^xsd:string) AnnotationAssertion( "Portal cirrhosis"^^xsd:string) AnnotationAssertion( "alcoholic cirrhosis of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14018"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic liver cirrhosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brucella canis brucellosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1172954"^^xsd:string) "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A23.3"^^xsd:string) AnnotationAssertion( "ICD9CM:023.3"^^xsd:string) AnnotationAssertion( "MONDO:0001857"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14019"^^xsd:string) AnnotationAssertion(rdfs:label "Brucella canis brucellosis"^^xsd:string) SubClassOf( ) # Class: (Tietze's syndrome) AnnotationAssertion(Annotation( "MESH:D013991"^^xsd:string) "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.)"^^xsd:string) AnnotationAssertion( "ICD10CM:M94.0"^^xsd:string) AnnotationAssertion( "ICD9CM:733.6"^^xsd:string) AnnotationAssertion( "MESH:D013991"^^xsd:string) AnnotationAssertion( "Costal Chondritis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:64109004"^^xsd:string) "Costalchondritis"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:733.6"^^xsd:string) "Costochondral junction syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:203523006"^^xsd:string) "Costochondritis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:91226007"^^xsd:string) "Slipping rib syndrome"^^xsd:string) AnnotationAssertion( "Tietze syndrome"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:733.6"^^xsd:string) "Tietze's disease"^^xsd:string) AnnotationAssertion( "Tietzes Syndrome"^^xsd:string) AnnotationAssertion( "costal chondritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14021"^^xsd:string) AnnotationAssertion(rdfs:label "Tietze's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (algoneurodystrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M89.0"^^xsd:string) AnnotationAssertion( "ICD9CM:733.7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14022"^^xsd:string) AnnotationAssertion(rdfs:label "algoneurodystrophy"^^xsd:string) SubClassOf( ) # Class: (folic acid deficiency anemia) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000551.htm"^^xsd:string) "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001070"^^xsd:string) AnnotationAssertion( "ICD10CM:D52"^^xsd:string) AnnotationAssertion( "ICD9CM:281.2"^^xsd:string) AnnotationAssertion( "MESH:D005494"^^xsd:string) AnnotationAssertion( "MONDO:0001860"^^xsd:string) AnnotationAssertion( "folate-deficiency anaemia"^^xsd:string) AnnotationAssertion( "folate-deficiency anemia"^^xsd:string) AnnotationAssertion( "folate-deficient megaloblastic anaemia"^^xsd:string) AnnotationAssertion( "folic acid deficiencies"^^xsd:string) AnnotationAssertion( "folic acid deficiency"^^xsd:string) AnnotationAssertion( "folic acid deficiency anaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14026"^^xsd:string) AnnotationAssertion(rdfs:label "folic acid deficiency anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant parietal pleura tumor) AnnotationAssertion( "primary malignant neoplasm of parietal pleura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14032"^^xsd:string) AnnotationAssertion(rdfs:label "malignant parietal pleura tumor"^^xsd:string) SubClassOf( ) # Class: (malignant visceral pleura tumor) AnnotationAssertion( "primary malignant neoplasm of visceral pleura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14033"^^xsd:string) AnnotationAssertion(rdfs:label "malignant visceral pleura tumor"^^xsd:string) SubClassOf( ) # Class: (aorta atresia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25956755"^^xsd:string) "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:747.22"^^xsd:string) AnnotationAssertion( "atresia and stenosis of aorta"^^xsd:string) AnnotationAssertion( "congenital atresia and stenosis of aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14037"^^xsd:string) AnnotationAssertion(rdfs:label "aorta atresia"^^xsd:string) SubClassOf( ) # Class: (POEMS syndrome) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome"^^xsd:string) "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001115"^^xsd:string) AnnotationAssertion( "GARD:7411"^^xsd:string) AnnotationAssertion( "MESH:D016878"^^xsd:string) AnnotationAssertion( "NCI:C80303"^^xsd:string) AnnotationAssertion( "Crow Fukase Syndrome"^^xsd:string) AnnotationAssertion( "Polyneuropathy Organomegaly"^^xsd:string) AnnotationAssertion( "Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome"^^xsd:string) AnnotationAssertion( "Takatsuki syndrome"^^xsd:string) AnnotationAssertion( "Takatsuki's Syndrome"^^xsd:string) AnnotationAssertion( "polyneuropathy organomegalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14039"^^xsd:string) AnnotationAssertion(rdfs:label "POEMS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (residual stage angle-closure glaucoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.24"^^xsd:string) AnnotationAssertion( "ICD9CM:365.24"^^xsd:string) AnnotationAssertion( "RDO:9004234"^^xsd:string) AnnotationAssertion( "residual stage of angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1404"^^xsd:string) AnnotationAssertion(rdfs:label "residual stage angle-closure glaucoma"^^xsd:string) SubClassOf( ) # Class: (autoimmune polyendocrine syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome"^^xsd:string) "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E31.0"^^xsd:string) AnnotationAssertion( "MESH:D016884"^^xsd:string) AnnotationAssertion( "NCI:C84576"^^xsd:string) AnnotationAssertion( "AIRE deficiencies"^^xsd:string) AnnotationAssertion( "AIRE deficiency"^^xsd:string) AnnotationAssertion( "APECED"^^xsd:string) AnnotationAssertion( "Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy"^^xsd:string) AnnotationAssertion( "Autoimmune polyglandular failure"^^xsd:string) AnnotationAssertion( "Lloyd's syndrome"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathies"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy"^^xsd:string) AnnotationAssertion( "autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy"^^xsd:string) AnnotationAssertion( "diabetes mellitus, Addison disease, myxedema"^^xsd:string) AnnotationAssertion( "diabetes mellitus, Addison's disease, myxedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14040"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune polyendocrine syndrome"^^xsd:string) SubClassOf( ) # Class: (bipolar I disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bipolar_I"^^xsd:string) "A bipolar disorder that is characterized by at least one manic or mixed episode. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:0080220"^^xsd:string) AnnotationAssertion( "MIM:125480"^^xsd:string) AnnotationAssertion( "EFO:0009963"^^xsd:string) AnnotationAssertion( "ICD9CM:296.50"^^xsd:string) AnnotationAssertion( "MESH:C565111"^^xsd:string) AnnotationAssertion( "MAFD1"^^xsd:string) AnnotationAssertion( "MD1"^^xsd:string) AnnotationAssertion( "autosomal manic-depressive psychosis"^^xsd:string) AnnotationAssertion( "major affective disorder 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14042"^^xsd:string) AnnotationAssertion(rdfs:label "bipolar I disorder"^^xsd:string) SubClassOf( ) # Class: (neonatal myasthenia gravis) AnnotationAssertion(Annotation( "MESH:D020941"^^xsd:string) "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)"^^xsd:string) AnnotationAssertion( "EFO:1001059"^^xsd:string) AnnotationAssertion( "ICD9CM:775.2"^^xsd:string) AnnotationAssertion( "MESH:D020941"^^xsd:string) AnnotationAssertion( "antenatal myasthenia gravis"^^xsd:string) AnnotationAssertion( "persistent neonatal myasthenia gravis"^^xsd:string) AnnotationAssertion( "transient neonatal myasthenia gravis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14043"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal myasthenia gravis"^^xsd:string) SubClassOf( ) # Class: (phaeohyphomycosis) AnnotationAssertion(Annotation( "http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract"^^xsd:string) Annotation( "https://drfungus.org/knowledge-base/phaeohyphomycosis/"^^xsd:string) Annotation( "https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis"^^xsd:string) "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12803"^^xsd:string) AnnotationAssertion( "MESH:D060446"^^xsd:string) AnnotationAssertion( "Infection by dematiacious fungi"^^xsd:string) AnnotationAssertion( "Phaeohyphomycoses"^^xsd:string) AnnotationAssertion( "cutaneous phaeohyphomycoses"^^xsd:string) AnnotationAssertion( "cutaneous phaeohyphomycosis"^^xsd:string) AnnotationAssertion( "phaehyphomycosis"^^xsd:string) AnnotationAssertion( "subcutaneous phaeohyphomycoses"^^xsd:string) AnnotationAssertion( "subcutaneous phaeohyphomycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14049"^^xsd:string) AnnotationAssertion(rdfs:label "phaeohyphomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary angle-closure glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string) "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "COL18A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1001506"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.2"^^xsd:string) AnnotationAssertion( "ICD9CM:365.2"^^xsd:string) AnnotationAssertion( "MIM:618880"^^xsd:string) AnnotationAssertion( "primary closed-angle glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1405"^^xsd:string) AnnotationAssertion(rdfs:label "primary angle-closure glaucoma"^^xsd:string) SubClassOf( ) # Class: (paraurethral gland cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/5874817"^^xsd:string) "A female reproductive organ cancer that is located_in the paraurethral glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C68.1"^^xsd:string) AnnotationAssertion( "ICD9CM:189.4"^^xsd:string) AnnotationAssertion( "RDO:9002286"^^xsd:string) AnnotationAssertion( "malignant tumor of paraurethral gland"^^xsd:string) AnnotationAssertion( "malignant tumor of the Paraurethral gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14059"^^xsd:string) AnnotationAssertion(rdfs:label "paraurethral gland cancer"^^xsd:string) SubClassOf( ) # Class: (iritis) AnnotationAssertion(Annotation( "MESH:D007500"^^xsd:string) "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris."^^xsd:string) AnnotationAssertion( "EFO:1000997"^^xsd:string) AnnotationAssertion( "MESH:D007500"^^xsd:string) AnnotationAssertion( "NCI:C50621"^^xsd:string) AnnotationAssertion( "Iritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1406"^^xsd:string) AnnotationAssertion(rdfs:label "iritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute poststreptococcal glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35443"^^xsd:string) AnnotationAssertion( "post-streptococcal glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14064"^^xsd:string) AnnotationAssertion(rdfs:label "acute poststreptococcal glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (acute diffuse nephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35587"^^xsd:string) AnnotationAssertion( "acute diffuse glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14066"^^xsd:string) AnnotationAssertion(rdfs:label "acute diffuse nephritis"^^xsd:string) SubClassOf( ) # Class: (Plasmodium falciparum malaria) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria"^^xsd:string) "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007444"^^xsd:string) AnnotationAssertion( "ICD10CM:B50"^^xsd:string) AnnotationAssertion( "ICD9CM:084.0"^^xsd:string) AnnotationAssertion( "MESH:D016778"^^xsd:string) AnnotationAssertion( "NCI:C34798"^^xsd:string) AnnotationAssertion( "falciparum malaria"^^xsd:string) AnnotationAssertion( "malaria fever, subtertian"^^xsd:string) AnnotationAssertion( "malignant tertian fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14067"^^xsd:string) AnnotationAssertion(rdfs:label "Plasmodium falciparum malaria"^^xsd:string) SubClassOf( ) # Class: (blackwater fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blackwater_fever"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever"^^xsd:string) "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007172"^^xsd:string) AnnotationAssertion( "ICD9CM:084.8"^^xsd:string) AnnotationAssertion( "MESH:D001742"^^xsd:string) AnnotationAssertion( "NCI:C34426"^^xsd:string) AnnotationAssertion( "Black Water Fever"^^xsd:string) AnnotationAssertion( "Black Water Fevers"^^xsd:string) AnnotationAssertion( "Blackwater Fevers"^^xsd:string) AnnotationAssertion( "Hemolytic Malaria"^^xsd:string) AnnotationAssertion( "Hemolytic Malarias"^^xsd:string) AnnotationAssertion( "hemoglobinuric malaria"^^xsd:string) AnnotationAssertion( "malarial hemoglobinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14068"^^xsd:string) AnnotationAssertion(rdfs:label "blackwater fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral malaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malaria"^^xsd:string) "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006857"^^xsd:string) AnnotationAssertion( "ICD10CM:B50.0"^^xsd:string) AnnotationAssertion( "MESH:D016779"^^xsd:string) AnnotationAssertion( "NCI:C128373"^^xsd:string) AnnotationAssertion( "Malaria Meningitis"^^xsd:string) AnnotationAssertion( "malarial encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14069"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral malaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior uveitis) AnnotationAssertion(Annotation( "MESH:D014606"^^xsd:string) "Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced."^^xsd:string) AnnotationAssertion( "RDO:0004984"^^xsd:string) AnnotationAssertion( "EFO:1000811"^^xsd:string) AnnotationAssertion( "GARD:10941"^^xsd:string) AnnotationAssertion( "MESH:D014606"^^xsd:string) AnnotationAssertion( "NCI:C35109"^^xsd:string) AnnotationAssertion( "Anterior Uveitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1407"^^xsd:string) AnnotationAssertion(rdfs:label "anterior uveitis"^^xsd:string) SubClassOf( ) # Class: (vestibular nystagmus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:379.54"^^xsd:string) AnnotationAssertion( "RDO:9003054"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:379.54"^^xsd:string) "Nystagmus associated with disorder of the vestibular system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14070"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular nystagmus"^^xsd:string) SubClassOf( ) # Class: (geniculate ganglionitis) AnnotationAssertion( "ICD10CM:G51.1"^^xsd:string) AnnotationAssertion( "ICD9CM:351.1"^^xsd:string) AnnotationAssertion( "geniculate ganglionitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14075"^^xsd:string) AnnotationAssertion(rdfs:label "geniculate ganglionitis"^^xsd:string) SubClassOf( ) # Class: (glucocorticoid-remediable aldosteronism) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10852446/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/1731223/"^^xsd:string) "A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:103900"^^xsd:string) AnnotationAssertion( "GARD:2790"^^xsd:string) AnnotationAssertion( "ICD10CM:E26.02"^^xsd:string) AnnotationAssertion( "ICD9CM:255.11"^^xsd:string) AnnotationAssertion( "MESH:C563177"^^xsd:string) AnnotationAssertion( "NCI:C123248"^^xsd:string) AnnotationAssertion( "NCI:C127161"^^xsd:string) AnnotationAssertion( "ACTH-dependent hyperaldosteronism syndrome"^^xsd:string) AnnotationAssertion( "FH I"^^xsd:string) AnnotationAssertion( "GRA"^^xsd:string) AnnotationAssertion( "GRS"^^xsd:string) AnnotationAssertion( "GSH"^^xsd:string) AnnotationAssertion( "HALD1"^^xsd:string) AnnotationAssertion( "aldosteronism sensitive to dexamethasone"^^xsd:string) AnnotationAssertion( "familial hyperaldosteronism type I"^^xsd:string) AnnotationAssertion( "glucocorticoid-suppressible hyperaldosteronism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14080"^^xsd:string) AnnotationAssertion(rdfs:label "glucocorticoid-remediable aldosteronism"^^xsd:string) SubClassOf( ) # Class: (toxic labyrinthitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16448876"^^xsd:string) "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14081"^^xsd:string) AnnotationAssertion(rdfs:label "toxic labyrinthitis"^^xsd:string) SubClassOf( ) # Class: (epicondylitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epicondylitis"^^xsd:string) "A bone inflammation disease that results_in inflammation located_in epicondyle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001887"^^xsd:string) AnnotationAssertion( "EFO:1001896"^^xsd:string) AnnotationAssertion( "ICD10CM:M77.1"^^xsd:string) AnnotationAssertion( "ICD9CM:726.32"^^xsd:string) AnnotationAssertion( "MESH:D013716"^^xsd:string) AnnotationAssertion( "NCI:C34589"^^xsd:string) AnnotationAssertion( "NCI:C35067"^^xsd:string) AnnotationAssertion( "andrel epicondylitis"^^xsd:string) AnnotationAssertion( "archer's elbow"^^xsd:string) AnnotationAssertion( "hockey elbow"^^xsd:string) AnnotationAssertion( "Lateral Epicondylitis"^^xsd:string) AnnotationAssertion( "Lateral Humeral Epicondylitides"^^xsd:string) AnnotationAssertion( "Lateral Humeral Epicondylitis"^^xsd:string) AnnotationAssertion( "Tennis Elbow"^^xsd:string) AnnotationAssertion( "golfer's elbow"^^xsd:string) AnnotationAssertion( "lateral epicondylitides"^^xsd:string) AnnotationAssertion( "medial epicondylitis"^^xsd:string) AnnotationAssertion( "tennis elbows"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "shooter's elbow"^^xsd:string) AnnotationAssertion( "DOID:14087"^^xsd:string) AnnotationAssertion(rdfs:label "epicondylitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (root caries) AnnotationAssertion(Annotation( "MESH:D017213"^^xsd:string) "Dental caries involving the tooth root, cementum, or cervical area of the tooth."^^xsd:string) AnnotationAssertion( "EFO:1001163"^^xsd:string) AnnotationAssertion( "ICD9CM:521.08"^^xsd:string) AnnotationAssertion( "MESH:D017213"^^xsd:string) AnnotationAssertion( "Cervical Caries"^^xsd:string) AnnotationAssertion( "Cervical Cary"^^xsd:string) AnnotationAssertion( "cementum caries"^^xsd:string) AnnotationAssertion( "dental caries of root surface"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14089"^^xsd:string) AnnotationAssertion(rdfs:label "root caries"^^xsd:string) SubClassOf( ) # Class: (renal artery atheroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I70.1"^^xsd:string) AnnotationAssertion( "ICD9CM:440.1"^^xsd:string) AnnotationAssertion( "RDO:9002216"^^xsd:string) AnnotationAssertion( "Atherosclerosis of renal artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "renal atherosclerosis"^^xsd:string) AnnotationAssertion( "DOID:14092"^^xsd:string) AnnotationAssertion(rdfs:label "renal artery atheroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (boutonneuse fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Boutonneuse_fever"^^xsd:string) Annotation( "http://www.cdc.gov/otherspottedfever/index.html"^^xsd:string) "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007179"^^xsd:string) AnnotationAssertion( "ICD10CM:A77.1"^^xsd:string) AnnotationAssertion( "ICD9CM:082.1"^^xsd:string) AnnotationAssertion( "MESH:D001907"^^xsd:string) AnnotationAssertion( "Boutonneuse fevers"^^xsd:string) AnnotationAssertion( "Mediterranean spotted fever"^^xsd:string) AnnotationAssertion( "Rickettsia conorii spotted fever"^^xsd:string) AnnotationAssertion( "South African tick-bite fever"^^xsd:string) AnnotationAssertion( "african tick typhus"^^xsd:string) AnnotationAssertion( "kenya tick typhus"^^xsd:string) AnnotationAssertion( "marseilles fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Boutonneuse disease"^^xsd:string) AnnotationAssertion( "Conor and Bruch's disease"^^xsd:string) AnnotationAssertion( "Kenya fever"^^xsd:string) AnnotationAssertion( "Kenyan tick typhus"^^xsd:string) AnnotationAssertion( "Mediterranean tick fever"^^xsd:string) AnnotationAssertion( "DOID:14095"^^xsd:string) AnnotationAssertion(rdfs:label "boutonneuse fever"^^xsd:string) SubClassOf( ) # Class: (infertility due to extratesticular cause) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:606.8"^^xsd:string) AnnotationAssertion( "RDO:9003737"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:606.8"^^xsd:string) "Infertility due to extratesticular causes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14096"^^xsd:string) AnnotationAssertion(rdfs:label "infertility due to extratesticular cause"^^xsd:string) SubClassOf( ) # Class: (acquired gastric outlet stenosis) AnnotationAssertion( "ICD9CM:537.0"^^xsd:string) AnnotationAssertion( "acquired hypertrophic pyloric stenosis"^^xsd:string) AnnotationAssertion( "adult hypertrophic pyloric stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14099"^^xsd:string) AnnotationAssertion(rdfs:label "acquired gastric outlet stenosis"^^xsd:string) SubClassOf( ) # Class: (De Quervain disease) AnnotationAssertion(Annotation( "MESH:D053684"^^xsd:string) "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS."^^xsd:string) AnnotationAssertion( "EFO:1000891"^^xsd:string) AnnotationAssertion( "ICD10CM:M65.4"^^xsd:string) AnnotationAssertion( "ICD9CM:727.04"^^xsd:string) AnnotationAssertion( "MESH:D053684"^^xsd:string) AnnotationAssertion( "De Quervain Stenosing Tenosynovitis"^^xsd:string) AnnotationAssertion( "De Quervain's Disease"^^xsd:string) AnnotationAssertion( "De Quervains Disease"^^xsd:string) AnnotationAssertion( "de Quervain's tenosynovitis"^^xsd:string) AnnotationAssertion( "radial styloid tenosynovitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14107"^^xsd:string) AnnotationAssertion(rdfs:label "De Quervain disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anus"^^xsd:string) "A large intestine cancer that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9300"^^xsd:string) AnnotationAssertion( "ICD10CM:C21.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C21.1"^^xsd:string) AnnotationAssertion( "ICD9CM:154.2"^^xsd:string) AnnotationAssertion( "ICD9CM:154.3"^^xsd:string) AnnotationAssertion( "NCI:C7379"^^xsd:string) AnnotationAssertion( "anal cancer"^^xsd:string) AnnotationAssertion( "malignant anal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14110"^^xsd:string) AnnotationAssertion(rdfs:label "anus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (median rhomboid glossitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K14.2"^^xsd:string) AnnotationAssertion( "ICD9CM:529.2"^^xsd:string) AnnotationAssertion( "persistent tuberculum impar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14111"^^xsd:string) AnnotationAssertion(rdfs:label "median rhomboid glossitis"^^xsd:string) SubClassOf( ) # Class: (toxic shock syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Toxic_shock_syndrome"^^xsd:string) "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A48.3"^^xsd:string) AnnotationAssertion( "ICD9CM:040.82"^^xsd:string) AnnotationAssertion( "MESH:D012772"^^xsd:string) AnnotationAssertion( "NCI:C35498"^^xsd:string) AnnotationAssertion( "TSS"^^xsd:string) AnnotationAssertion( "Toxic Shock"^^xsd:string) AnnotationAssertion( "Toxic Shock Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14115"^^xsd:string) AnnotationAssertion(rdfs:label "toxic shock syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple symmetric lipomatosis) AnnotationAssertion( "A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body."^^xsd:string) AnnotationAssertion( "DOID:3137"^^xsd:string) AnnotationAssertion( "MIM:151800"^^xsd:string) AnnotationAssertion( "EFO:1000737"^^xsd:string) AnnotationAssertion( "GARD:6957"^^xsd:string) AnnotationAssertion( "MESH:D008069"^^xsd:string) AnnotationAssertion( "NCI:C4392"^^xsd:string) AnnotationAssertion( "Launois-Bensaude syndrome"^^xsd:string) AnnotationAssertion( "Launois-Bensaude's lipomatosis"^^xsd:string) AnnotationAssertion( "Madelung Neck"^^xsd:string) AnnotationAssertion( "Madelung disease"^^xsd:string) AnnotationAssertion( "Madelung's Disease"^^xsd:string) AnnotationAssertion( "Madelung's neck"^^xsd:string) AnnotationAssertion( "Madelungs Disease"^^xsd:string) AnnotationAssertion( "Madelungs neck"^^xsd:string) AnnotationAssertion( "benign symmetrical lipomatosis"^^xsd:string) AnnotationAssertion( "cephalothoracic lipodystrophies"^^xsd:string) AnnotationAssertion( "cephalothoracic lipodystrophy"^^xsd:string) AnnotationAssertion( "cervical symmetrical lipomatosis"^^xsd:string) AnnotationAssertion( "familial benign cervical lipomatosis"^^xsd:string) AnnotationAssertion( "multiple symmetric lipomatoses"^^xsd:string) AnnotationAssertion( "multiple symmetric lipomatosis, with or without peripheral neuropathy"^^xsd:string) AnnotationAssertion( "multiple symmetrical lipomatoses"^^xsd:string) AnnotationAssertion( "multiple symmetrical lipomatosis"^^xsd:string) AnnotationAssertion( "nodular circumscribed lipomatoses"^^xsd:string) AnnotationAssertion( "nodular circumscribed lipomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14116"^^xsd:string) AnnotationAssertion(rdfs:label "multiple symmetric lipomatosis"^^xsd:string) SubClassOf( ) # Class: (familial lipoprotein lipase deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35415234/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/"^^xsd:string) "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (DO)"^^xsd:string) AnnotationAssertion( "MIM:238600"^^xsd:string) AnnotationAssertion( "GARD:12241"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.3"^^xsd:string) AnnotationAssertion( "ICD9CM:272.3"^^xsd:string) AnnotationAssertion( "MESH:D008072"^^xsd:string) AnnotationAssertion( "NCI:C84771"^^xsd:string) AnnotationAssertion( "ORDO:309015"^^xsd:string) AnnotationAssertion( "Burger Grutz Syndrome"^^xsd:string) AnnotationAssertion( "Burger-Grutz syndromes"^^xsd:string) AnnotationAssertion( "C-II Anapolipoproteinemia"^^xsd:string) AnnotationAssertion( "C-II anapolipoproteinemias"^^xsd:string) AnnotationAssertion( "Essential Familial Hyperlipemia"^^xsd:string) AnnotationAssertion( "Familial Chylomicronemia"^^xsd:string) AnnotationAssertion( "Familial Fat Induced Hypertriglyceridemia"^^xsd:string) AnnotationAssertion( "Familial Fat-Induced Hypertriglyceridemias"^^xsd:string) AnnotationAssertion( "Familial Hyperchylomicronemia"^^xsd:string) AnnotationAssertion( "Familial Hyperchylomicronemias"^^xsd:string) AnnotationAssertion( "Familial Hyperlipoproteinemia Type 1"^^xsd:string) AnnotationAssertion( "Familial LPL Deficiencies"^^xsd:string) AnnotationAssertion( "Familial LPL Deficiency"^^xsd:string) AnnotationAssertion( "Fredrickson type I hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "Fredrickson type I lipaemia"^^xsd:string) AnnotationAssertion( "Hyperlipemia, Idiopathic, Burger-Grutz Type"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type I"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type Ia"^^xsd:string) AnnotationAssertion( "LIPD Deficiencies"^^xsd:string) AnnotationAssertion( "LIPD Deficiency"^^xsd:string) AnnotationAssertion( "LPL deficiency"^^xsd:string) AnnotationAssertion( "Lipase D Deficiencies"^^xsd:string) AnnotationAssertion( "Lipase D Deficiency"^^xsd:string) AnnotationAssertion( "Lipoprotein Lipase Deficiencies"^^xsd:string) AnnotationAssertion( "Lipoprotein Lipase Deficiency"^^xsd:string) AnnotationAssertion( "essential familial hyperlipemias"^^xsd:string) AnnotationAssertion( "familial chylomiconemia syndrome"^^xsd:string) AnnotationAssertion( "familial chylomicronemias"^^xsd:string) AnnotationAssertion( "familial hyperlipoproteinemia type I"^^xsd:string) AnnotationAssertion( "hypercholesterinaemic xanthomatosis"^^xsd:string) AnnotationAssertion( "hyperchylomicronemia"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemias type I"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemias type Ia"^^xsd:string) AnnotationAssertion( "mixed hyperglyceridemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14118"^^xsd:string) AnnotationAssertion(rdfs:label "familial lipoprotein lipase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bacteriuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bacteriuria"^^xsd:string) "A urinary system disease which consists of the presence of bacteria in urine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R82.71"^^xsd:string) AnnotationAssertion( "MESH:D001437"^^xsd:string) AnnotationAssertion( "bacteriurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1412"^^xsd:string) AnnotationAssertion(rdfs:label "bacteriuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blue toe syndrome) AnnotationAssertion(Annotation( "MESH:D018438"^^xsd:string) "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation."^^xsd:string) AnnotationAssertion( "MESH:D018438"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14121"^^xsd:string) AnnotationAssertion(rdfs:label "blue toe syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abducens nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5826"^^xsd:string) AnnotationAssertion( "VIth cranial nerve tumors"^^xsd:string) AnnotationAssertion( "neoplasm of abducens nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14125"^^xsd:string) AnnotationAssertion(rdfs:label "abducens nerve neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lateral cystocele) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26337427"^^xsd:string) "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N81.12"^^xsd:string) AnnotationAssertion( "ICD9CM:618.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14130"^^xsd:string) AnnotationAssertion(rdfs:label "lateral cystocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (midline cystocele) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26337427"^^xsd:string) "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N81.11"^^xsd:string) AnnotationAssertion( "ICD9CM:618.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14131"^^xsd:string) AnnotationAssertion(rdfs:label "midline cystocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Masters-Allen syndrome) AnnotationAssertion(Annotation( "https://www.ajog.org/article/S0002-9378(05)02620-7/abstract"^^xsd:string) "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:620.6"^^xsd:string) AnnotationAssertion( "RDO:9004593"^^xsd:string) AnnotationAssertion( "broad ligament laceration syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14133"^^xsd:string) AnnotationAssertion(rdfs:label "Masters-Allen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5601"^^xsd:string) AnnotationAssertion( "lymphoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14139"^^xsd:string) AnnotationAssertion(rdfs:label "anus lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian dysfunction) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26132932"^^xsd:string) "An ovarian disease that is characterized by irregular or absent ovulation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009003"^^xsd:string) AnnotationAssertion( "ICD9CM:256.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1414"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian dysfunction"^^xsd:string) SubClassOf( ) # Class: (pulp erosion) AnnotationAssertion( "ICD9CM:521.33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14140"^^xsd:string) AnnotationAssertion(rdfs:label "pulp erosion"^^xsd:string) SubClassOf( ) # Class: (malignant anus melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000080"^^xsd:string) AnnotationAssertion( "NCI:C4639"^^xsd:string) AnnotationAssertion( "anal melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14145"^^xsd:string) AnnotationAssertion(rdfs:label "malignant anus melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureterolithiasis) AnnotationAssertion(Annotation( "https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28513524"^^xsd:string) "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001228"^^xsd:string) AnnotationAssertion( "ICD10CM:N20.1"^^xsd:string) AnnotationAssertion( "ICD9CM:592.1"^^xsd:string) AnnotationAssertion( "MESH:D053039"^^xsd:string) AnnotationAssertion( "NCI:C114696"^^xsd:string) AnnotationAssertion( "calculus of ureter"^^xsd:string) AnnotationAssertion( "ureteric calculus"^^xsd:string) AnnotationAssertion( "ureteric stone"^^xsd:string) AnnotationAssertion( "ureterolithiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14146"^^xsd:string) AnnotationAssertion(rdfs:label "ureterolithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gyrate atrophy) AnnotationAssertion(Annotation( "MESH:D015799"^^xsd:string) "Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood."^^xsd:string) AnnotationAssertion( "MIM:258870"^^xsd:string) AnnotationAssertion( "GARD:6556"^^xsd:string) AnnotationAssertion( "MESH:D015799"^^xsd:string) AnnotationAssertion( "NCI:C84744"^^xsd:string) AnnotationAssertion( "RDO:0001120"^^xsd:string) AnnotationAssertion( "GACR"^^xsd:string) AnnotationAssertion( "Gyrate Atrophy of Choroid and Retina"^^xsd:string) AnnotationAssertion( "Gyrate Atrophy of Choroid and Retina with Pyridoxine-Responsive Ornithinemia"^^xsd:string) AnnotationAssertion( "Gyrate Atrophy of the Choroid and Retina"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:87126009"^^xsd:string) "Gyrate atrophy of the choroid and/or retina"^^xsd:string) AnnotationAssertion( "HOGA"^^xsd:string) AnnotationAssertion( "Hyperornithinemia with Gyrate Atrophy of Choroid and Retina"^^xsd:string) AnnotationAssertion( "OAT Deficiency"^^xsd:string) AnnotationAssertion( "OKT Deficiency"^^xsd:string) AnnotationAssertion( "Ornithine Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "Ornithine Delta Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "Ornithine Keto Acid Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "Ornithine Ketoacid Aminotransferase Deficiency"^^xsd:string) AnnotationAssertion( "Ornithinemia with Gyrate Atrophy"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:1849-9719"^^xsd:string) "gyrate atrophy of the retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1415"^^xsd:string) AnnotationAssertion(rdfs:label "gyrate atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord lymphoma) AnnotationAssertion(Annotation( "http://www.virtualmedicalcentre.com/diseases.asp?did=583"^^xsd:string) "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5157"^^xsd:string) AnnotationAssertion( "lymphoma of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14150"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spinal cord melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5158"^^xsd:string) AnnotationAssertion( "melanoma of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14151"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5152"^^xsd:string) AnnotationAssertion( "sarcoma of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14152"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute retrobulbar neuritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:377.32"^^xsd:string) AnnotationAssertion( "RDO:9002686"^^xsd:string) AnnotationAssertion( "Retrobulbar Neuritides"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:377.32"^^xsd:string) "Retrobulbar neuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14155"^^xsd:string) AnnotationAssertion(rdfs:label "acute retrobulbar neuritis"^^xsd:string) SubClassOf( ) # Class: (obstructive hydrocephalus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G91.1"^^xsd:string) AnnotationAssertion( "ICD9CM:331.4"^^xsd:string) AnnotationAssertion( "NCI:C116347"^^xsd:string) AnnotationAssertion( "RDO:9003971"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14159"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive hydrocephalus"^^xsd:string) SubClassOf( ) # Class: (bilateral hyperactive labyrinth) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.52"^^xsd:string) AnnotationAssertion( "hyperactive bilateral labyrinthine dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14165"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral hyperactive labyrinth"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroid disease) AnnotationAssertion(Annotation( "MESH:D015862"^^xsd:string) Annotation( "https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders"^^xsd:string) "An uveal disease that is located_in the choroid. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000218"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.9"^^xsd:string) AnnotationAssertion( "ICD9CM:363.9"^^xsd:string) AnnotationAssertion( "MESH:D015862"^^xsd:string) AnnotationAssertion( "NCI:C34468"^^xsd:string) AnnotationAssertion( "Choroidal Disease"^^xsd:string) AnnotationAssertion( "Choroidal Diseases"^^xsd:string) AnnotationAssertion( "choroid diseases"^^xsd:string) AnnotationAssertion( "Collie eye anomaly"^^xsd:string) AnnotationAssertion( "choroidal dystrophy"^^xsd:string) AnnotationAssertion( "choroidal hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1417"^^xsd:string) AnnotationAssertion(rdfs:label "choroid disease"^^xsd:string) SubClassOf( ) # Class: (rheumatic congestive heart failure) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I09.81"^^xsd:string) AnnotationAssertion( "ICD9CM:398.91"^^xsd:string) AnnotationAssertion( "RDO:9002013"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Rheumatic heart failure"^^xsd:string) AnnotationAssertion( "DOID:14172"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic congestive heart failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central neurocytoma) AnnotationAssertion(Annotation( "MESH:D018306"^^xsd:string) "A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)"^^xsd:string) AnnotationAssertion( "EFO:1000856"^^xsd:string) AnnotationAssertion( "ICDO:9506/1"^^xsd:string) AnnotationAssertion( "MESH:D018306"^^xsd:string) AnnotationAssertion( "NCI:C3791"^^xsd:string) AnnotationAssertion( "Central Neurocytomas"^^xsd:string) AnnotationAssertion( "Neurocytomas"^^xsd:string) AnnotationAssertion( "neurocytoma"^^xsd:string) AnnotationAssertion( "neurolipocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14174"^^xsd:string) AnnotationAssertion(rdfs:label "central neurocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (von Hippel-Lindau disease) AnnotationAssertion(Annotation( "MESH:D006623"^^xsd:string) "An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions."^^xsd:string) AnnotationAssertion( "MIM:193300"^^xsd:string) AnnotationAssertion( "GARD:7855"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.8"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.83"^^xsd:string) AnnotationAssertion( "MESH:D006623"^^xsd:string) AnnotationAssertion( "NCI:C3105"^^xsd:string) AnnotationAssertion( "Angiomatosis Retinae"^^xsd:string) AnnotationAssertion( "Familial Cerebello Retinal Angiomatosis"^^xsd:string) AnnotationAssertion( "Familial Cerebello-Retinal Angiomatoses"^^xsd:string) AnnotationAssertion( "Familial Cerebelloretinal Angiomatoses"^^xsd:string) AnnotationAssertion( "Familial Cerebelloretinal Angiomatosis"^^xsd:string) AnnotationAssertion( "Hippel Lindau Disease"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:5000-0055"^^xsd:string) "Hippel Lindau syndrome"^^xsd:string) AnnotationAssertion( "Lindau Disease"^^xsd:string) AnnotationAssertion( "Lindau's Disease"^^xsd:string) AnnotationAssertion( "Lindau's Diseases"^^xsd:string) AnnotationAssertion( "Lindaus Disease"^^xsd:string) AnnotationAssertion( "VHL"^^xsd:string) AnnotationAssertion( "VHL Syndrome"^^xsd:string) AnnotationAssertion( "VHL Syndromes"^^xsd:string) AnnotationAssertion( "von Hippel Lindau Syndrome"^^xsd:string) AnnotationAssertion( "von Hippel-Lindau"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "von Hippel-Lindau syndrome, modifier of"^^xsd:string) AnnotationAssertion( "von Hippel-Lindau syndrome, modifiers of"^^xsd:string) AnnotationAssertion( "DOID:14175"^^xsd:string) AnnotationAssertion(rdfs:label "von Hippel-Lindau disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (selective IgG deficiency disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26846287"^^xsd:string) "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10371"^^xsd:string) AnnotationAssertion( "ICD10CM:D80.3"^^xsd:string) AnnotationAssertion( "MESH:D017099"^^xsd:string) AnnotationAssertion( "NCI:C27024"^^xsd:string) AnnotationAssertion( "NCI:C27142"^^xsd:string) AnnotationAssertion( "IgG Deficiencies"^^xsd:string) AnnotationAssertion( "IgG Deficiency"^^xsd:string) AnnotationAssertion( "immunoglobin G subclass deficiency"^^xsd:string) AnnotationAssertion( "selective IgG Immunodeficiency"^^xsd:string) AnnotationAssertion( "selective deficiency of IgG"^^xsd:string) AnnotationAssertion( "selective immunoglobulin G deficiency"^^xsd:string) AnnotationAssertion( "selective immunoglobulin G subclass deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14176"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgG deficiency disease"^^xsd:string) SubClassOf( ) # Class: (congenital hypogammaglobulinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:279.04"^^xsd:string) AnnotationAssertion( "congenital hypogammaglobulinaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14177"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hypogammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked agammaglobulinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm"^^xsd:string) "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300755"^^xsd:string) AnnotationAssertion( "EFO:0003079"^^xsd:string) AnnotationAssertion( "MESH:C537409"^^xsd:string) AnnotationAssertion( "NCI:C3822"^^xsd:string) AnnotationAssertion( "ORDO:47"^^xsd:string) AnnotationAssertion( "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1"^^xsd:string) AnnotationAssertion( "AGMX1"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia, X-Linked, Type I"^^xsd:string) AnnotationAssertion( "BTK deficiency"^^xsd:string) AnnotationAssertion( "Bruton agammaglobulinemia tyrosine kinase deficiency"^^xsd:string) AnnotationAssertion( "Bruton disease"^^xsd:string) AnnotationAssertion( "Bruton's agammaglobulinaemia"^^xsd:string) AnnotationAssertion( "Bruton's agammaglobulinemia"^^xsd:string) AnnotationAssertion( "Bruton's sex-linked agammaglobulinemia"^^xsd:string) AnnotationAssertion( "Bruton's type agammaglobulinemia"^^xsd:string) AnnotationAssertion( "Bruton-type (congenital X-linked) agammaglobulinemia"^^xsd:string) AnnotationAssertion( "Bruton-type agammaglobulinemia"^^xsd:string) AnnotationAssertion( "IMD1"^^xsd:string) AnnotationAssertion( "XLA"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, BTK"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, Bruton tyrosine kinase"^^xsd:string) AnnotationAssertion( "congenital agammaglobulinemia"^^xsd:string) AnnotationAssertion( "immunodeficiency 1"^^xsd:string) AnnotationAssertion( "X-linked hypoagammaglobulinemia"^^xsd:string) AnnotationAssertion( "X-linked hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14179"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked agammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (calcific tendinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M75.3"^^xsd:string) AnnotationAssertion( "ICD9CM:726.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14181"^^xsd:string) AnnotationAssertion(rdfs:label "calcific tendinitis"^^xsd:string) SubClassOf( ) # Class: (alcoholic neuropathy) AnnotationAssertion(Annotation( "MESH:D020269"^^xsd:string) "A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)"^^xsd:string) AnnotationAssertion( "EFO:1000803"^^xsd:string) AnnotationAssertion( "ICD10CM:G62.1"^^xsd:string) AnnotationAssertion( "ICD9CM:357.5"^^xsd:string) AnnotationAssertion( "MESH:D020269"^^xsd:string) AnnotationAssertion( "NCI:C26926"^^xsd:string) AnnotationAssertion( "Alcohol Induced Peripheral Neuropathy"^^xsd:string) AnnotationAssertion( "Alcohol Induced Polyneuropathy"^^xsd:string) AnnotationAssertion( "Alcohol Related Autonomic Polyneuropathy"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Peripheral Neuropathies"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Polyneuropathies"^^xsd:string) AnnotationAssertion( "Alcohol-Related Autonomic Polyneuropathies"^^xsd:string) AnnotationAssertion( "Alcohol-Related Polyneuropathies"^^xsd:string) AnnotationAssertion( "Alcoholic Axonal Neuropathy"^^xsd:string) AnnotationAssertion( "Alcoholic Neuropathies"^^xsd:string) AnnotationAssertion( "Alcoholic Polyneuritides"^^xsd:string) AnnotationAssertion( "Alcoholic Polyneuritis"^^xsd:string) AnnotationAssertion( "Alcoholic Polyneuropathies"^^xsd:string) AnnotationAssertion( "Alcoholic Polyneuropathy"^^xsd:string) AnnotationAssertion( "alcohol-related polyneuropathy"^^xsd:string) AnnotationAssertion( "alcoholic axonal neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14183"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (polyneuropathy due to drug) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G62.0"^^xsd:string) AnnotationAssertion( "ICD9CM:357.6"^^xsd:string) AnnotationAssertion( "RDO:9002726"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14184"^^xsd:string) AnnotationAssertion(rdfs:label "polyneuropathy due to drug"^^xsd:string) SubClassOf( ) # Class: (frozen shoulder) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684"^^xsd:string) "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000941"^^xsd:string) AnnotationAssertion( "ICD10CM:M75.0"^^xsd:string) AnnotationAssertion( "ICD9CM:726.0"^^xsd:string) AnnotationAssertion( "adhesions-capsulitis,shoulder"^^xsd:string) AnnotationAssertion( "adhesive capsulitis of shoulder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14188"^^xsd:string) AnnotationAssertion(rdfs:label "frozen shoulder"^^xsd:string) SubClassOf( ) # Class: (bicipital tenosynovitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:726.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14192"^^xsd:string) AnnotationAssertion(rdfs:label "bicipital tenosynovitis"^^xsd:string) SubClassOf( ) # Class: (posterior dislocation of lens) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H27.13"^^xsd:string) AnnotationAssertion( "ICD9CM:379.34"^^xsd:string) AnnotationAssertion( "RDO:9003053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14199"^^xsd:string) AnnotationAssertion(rdfs:label "posterior dislocation of lens"^^xsd:string) SubClassOf( ) # Class: (adult dermatomyositis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002753"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:402425006"^^xsd:string) "adult onset dermatomyositis"^^xsd:string) AnnotationAssertion( "adult type dermatomyositides"^^xsd:string) AnnotationAssertion( "adult type dermatomyositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14202"^^xsd:string) AnnotationAssertion(rdfs:label "adult dermatomyositis"^^xsd:string) SubClassOf( ) # Class: (childhood type dermatomyositis) AnnotationAssertion( "RDO:0016020"^^xsd:string) AnnotationAssertion( "EFO:0000557"^^xsd:string) AnnotationAssertion( "ICD10CM:M33.0"^^xsd:string) AnnotationAssertion( "MESH:C000598745"^^xsd:string) AnnotationAssertion( "NCI:C27576"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27576"^^xsd:string) "childhood Dermatomyositis"^^xsd:string) AnnotationAssertion( "childhood type dermatomyositides"^^xsd:string) AnnotationAssertion( "juvenile dermatomyositis"^^xsd:string) AnnotationAssertion( "juvenile myositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14203"^^xsd:string) AnnotationAssertion(rdfs:label "childhood type dermatomyositis"^^xsd:string) SubClassOf( ) # Class: (hypophosphatasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hypophosphatasia"^^xsd:string) "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6734"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.39"^^xsd:string) AnnotationAssertion( "MESH:D007014"^^xsd:string) AnnotationAssertion( "NCI:C26798"^^xsd:string) AnnotationAssertion( "ORDO:436"^^xsd:string) AnnotationAssertion( "deficiency of alkaline phosphatase"^^xsd:string) AnnotationAssertion( "hypophosphatasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14213"^^xsd:string) AnnotationAssertion(rdfs:label "hypophosphatasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dihydropyrimidine dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency"^^xsd:string) "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:274270"^^xsd:string) AnnotationAssertion( "GARD:19"^^xsd:string) AnnotationAssertion( "MESH:D054067"^^xsd:string) AnnotationAssertion( "NCI:C3964"^^xsd:string) AnnotationAssertion( "NCI:C84672"^^xsd:string) AnnotationAssertion( "DPD Deficiencies"^^xsd:string) AnnotationAssertion( "DPD Deficiency"^^xsd:string) AnnotationAssertion( "DPYD DEFICIENCY"^^xsd:string) AnnotationAssertion( "Dihydropyrimidinuria"^^xsd:string) AnnotationAssertion( "Dihydropyrimidinurias"^^xsd:string) AnnotationAssertion( "Familial Pyrimidemia"^^xsd:string) AnnotationAssertion( "Familial Pyrimidemias"^^xsd:string) AnnotationAssertion( "Familial Pyrimidinemia"^^xsd:string) AnnotationAssertion( "Familial Pyrimidinemias"^^xsd:string) AnnotationAssertion( "Hereditary Thymine Uraciluria"^^xsd:string) AnnotationAssertion( "Hereditary Thymine-Uracilurias"^^xsd:string) AnnotationAssertion( "dihydropyrimidine dehydrogenase deficiencies"^^xsd:string) AnnotationAssertion( "dihydrouracil dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "familial pyrimidinaemia"^^xsd:string) AnnotationAssertion( "thymine-uracilurea"^^xsd:string) AnnotationAssertion( "5-fluorouracil toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14218"^^xsd:string) AnnotationAssertion(rdfs:label "dihydropyrimidine dehydrogenase deficiency"^^xsd:string) SubClassOf( ) # Class: (renal tubular acidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renal_tubular_acidosis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html"^^xsd:string) "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:179830"^^xsd:string) AnnotationAssertion( "GARD:7552"^^xsd:string) AnnotationAssertion( "ICD10CM:N25.89"^^xsd:string) AnnotationAssertion( "MESH:D000141"^^xsd:string) AnnotationAssertion( "NCI:C28129"^^xsd:string) AnnotationAssertion( "Distal Renal Tubular Acidosis"^^xsd:string) AnnotationAssertion( "Proximal Renal Tubular Acidosis"^^xsd:string) AnnotationAssertion( "Proximal Type RTA"^^xsd:string) AnnotationAssertion( "Renal Tubular Acidosis II"^^xsd:string) AnnotationAssertion( "proximal renal tubular acidosis with ocular abnormalities"^^xsd:string) AnnotationAssertion( "type II renal tubular acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14219"^^xsd:string) AnnotationAssertion(rdfs:label "renal tubular acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (abdominal obesity-metabolic syndrome 1) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Metabolic_syndrome"^^xsd:string) "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9226"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.81"^^xsd:string) AnnotationAssertion( "ICD9CM:277.7"^^xsd:string) AnnotationAssertion( "MIM:605552"^^xsd:string) AnnotationAssertion( "NCI:C84442"^^xsd:string) AnnotationAssertion( "AOMS1"^^xsd:string) AnnotationAssertion( "dysmetabolic syndrome X"^^xsd:string) AnnotationAssertion( "metabolic syndrome X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "METABOLIC SYNDROME, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "DOID:14221"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal obesity-metabolic syndrome 1"^^xsd:string) SubClassOf( ) # Class: (ochronosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ochronosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/"^^xsd:string) "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7231"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.29"^^xsd:string) AnnotationAssertion( "MESH:D009794"^^xsd:string) AnnotationAssertion( "NCI:C84938"^^xsd:string) AnnotationAssertion( "ochronoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14223"^^xsd:string) AnnotationAssertion(rdfs:label "ochronosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tracheal calcification) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0001911"^^xsd:string) AnnotationAssertion( "NCI:C35314"^^xsd:string) AnnotationAssertion( "calcification of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14224"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal calcification"^^xsd:string) SubClassOf( ) # Class: (acute frontal sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A frontal sinusitis which lasts for less than 4 weeks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.1"^^xsd:string) AnnotationAssertion( "ICD9CM:461.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14225"^^xsd:string) AnnotationAssertion(rdfs:label "acute frontal sinusitis"^^xsd:string) SubClassOf( ) # Class: (azoospermia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Azoospermia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=azoospermia"^^xsd:string) "A male infertility disease characterized by the absence of any measurable level of sperm in semen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000279"^^xsd:string) AnnotationAssertion( "ICD10CM:N46.0"^^xsd:string) AnnotationAssertion( "ICD9CM:606.0"^^xsd:string) AnnotationAssertion( "MESH:D053713"^^xsd:string) AnnotationAssertion( "NCI:C80076"^^xsd:string) AnnotationAssertion( "ORDO:217034"^^xsd:string) AnnotationAssertion( "OBSTRUCTIVE AZOOSPERMIA"^^xsd:string) AnnotationAssertion( "idiopathic azoospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14227"^^xsd:string) AnnotationAssertion(rdfs:label "azoospermia"^^xsd:string) SubClassOf( ) # Class: (oligospermia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oligospermia"^^xsd:string) "A male fertility issue defined as a low sperm concentration in the ejaculate. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N46.1"^^xsd:string) AnnotationAssertion( "ICD9CM:606.1"^^xsd:string) AnnotationAssertion( "MESH:D009845"^^xsd:string) AnnotationAssertion( "NCI:C34860"^^xsd:string) AnnotationAssertion( "Low Sperm Count"^^xsd:string) AnnotationAssertion( "hypospermatogeneses"^^xsd:string) AnnotationAssertion( "hypospermatogenesis"^^xsd:string) AnnotationAssertion( "low sperm counts"^^xsd:string) AnnotationAssertion( "oligozoospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14228"^^xsd:string) AnnotationAssertion(rdfs:label "oligospermia"^^xsd:string) SubClassOf( ) # Class: (scleromalacia perforans) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Scleritis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/"^^xsd:string) "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.05"^^xsd:string) AnnotationAssertion( "ICD9CM:379.04"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14230"^^xsd:string) AnnotationAssertion(rdfs:label "scleromalacia perforans"^^xsd:string) SubClassOf( ) # Class: (orbital cyst) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.81"^^xsd:string) AnnotationAssertion( "ICD9CM:376.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14233"^^xsd:string) AnnotationAssertion(rdfs:label "orbital cyst"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal tularemia) AnnotationAssertion(Annotation( "https://www.cdc.gov/tularemia/index.html"^^xsd:string) "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:021.1"^^xsd:string) AnnotationAssertion( "enteric tularemia"^^xsd:string) AnnotationAssertion( "intestinal tularaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14239"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic perichondritis of pinna) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string) "A perichondritis of auricle which is persistent and long-lasting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:380.02"^^xsd:string) AnnotationAssertion( "RDO:9004462"^^xsd:string) AnnotationAssertion( "chronic pinna perichondritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14243"^^xsd:string) AnnotationAssertion(rdfs:label "chronic perichondritis of pinna"^^xsd:string) SubClassOf( ) # Class: (epiphora due to excess lacrimation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.21"^^xsd:string) AnnotationAssertion( "ICD9CM:375.21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14244"^^xsd:string) AnnotationAssertion(rdfs:label "epiphora due to excess lacrimation"^^xsd:string) SubClassOf( ) # Class: (cystoid macular retinal degeneration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.35"^^xsd:string) AnnotationAssertion( "ICD9CM:362.53"^^xsd:string) AnnotationAssertion( "cystoid macular degeneration of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14245"^^xsd:string) AnnotationAssertion(rdfs:label "cystoid macular retinal degeneration"^^xsd:string) SubClassOf( ) # Class: (chronic purulent otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false"^^xsd:string) "A suppurative otitis media which is persistent and long-lasting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H66.3"^^xsd:string) AnnotationAssertion( "ICD9CM:382.3"^^xsd:string) AnnotationAssertion( "NCI:C128386"^^xsd:string) AnnotationAssertion( "chronic suppurative otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14247"^^xsd:string) AnnotationAssertion(rdfs:label "chronic purulent otitis media"^^xsd:string) SubClassOf( ) # Class: (chronic atticoantral disease) AnnotationAssertion(Annotation( "http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false"^^xsd:string) "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H66.2"^^xsd:string) AnnotationAssertion( "ICD9CM:382.2"^^xsd:string) AnnotationAssertion( "RDO:9002449"^^xsd:string) AnnotationAssertion( "chronic atticoantral suppurative otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14248"^^xsd:string) AnnotationAssertion(rdfs:label "chronic atticoantral disease"^^xsd:string) SubClassOf( ) # Class: (pyoureter) AnnotationAssertion( "Ureter abscess."^^xsd:string) AnnotationAssertion( "NCI:C35666"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35666"^^xsd:string) "Ureter abscess"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1425"^^xsd:string) AnnotationAssertion(rdfs:label "pyoureter"^^xsd:string) SubClassOf( ) # Class: (Down syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Down_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/down-syndrome"^^xsd:string) Annotation( "http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx"^^xsd:string) Annotation( "http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/trisomy-21"^^xsd:string) "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:190685"^^xsd:string) AnnotationAssertion( "EFO:0001064"^^xsd:string) AnnotationAssertion( "GARD:10247"^^xsd:string) AnnotationAssertion( "ICD10CM:Q90"^^xsd:string) AnnotationAssertion( "ICD9CM:758.0"^^xsd:string) AnnotationAssertion( "MESH:D004314"^^xsd:string) AnnotationAssertion( "NCI:C2993"^^xsd:string) AnnotationAssertion( "NCI:C43224"^^xsd:string) AnnotationAssertion( "ORDO:870"^^xsd:string) AnnotationAssertion( "47,XX,+21"^^xsd:string) AnnotationAssertion( "47,XY,+21"^^xsd:string) AnnotationAssertion( "Down's syndrome"^^xsd:string) AnnotationAssertion( "Down's syndrome - trisomy 21"^^xsd:string) AnnotationAssertion( "Downs syndrome"^^xsd:string) AnnotationAssertion( "Mongolism"^^xsd:string) AnnotationAssertion( "Partial Trisomy 21 Down Syndrome"^^xsd:string) AnnotationAssertion( "Trisomy 21"^^xsd:string) AnnotationAssertion( "complete trisomy 21 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 21 syndrome"^^xsd:string) AnnotationAssertion( "trisomy 21, meiotic nondisjunction"^^xsd:string) AnnotationAssertion( "trisomy 21, mitotic nondisjunction"^^xsd:string) AnnotationAssertion( "trisomy G"^^xsd:string) AnnotationAssertion( "DCR"^^xsd:string) AnnotationAssertion( "DSCR"^^xsd:string) AnnotationAssertion( "Down syndrome, critical region"^^xsd:string) AnnotationAssertion( "TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION"^^xsd:string) AnnotationAssertion( "megakaryoblastic leukemia of Down syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Down syndrome, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:14250"^^xsd:string) AnnotationAssertion(rdfs:label "Down syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vitreoretinal dystrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.51"^^xsd:string) AnnotationAssertion( "ICD9CM:362.73"^^xsd:string) AnnotationAssertion( "RDO:9002924"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:362.73"^^xsd:string) "Vitreoretinal dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14251"^^xsd:string) AnnotationAssertion(rdfs:label "vitreoretinal dystrophy"^^xsd:string) SubClassOf( ) # Class: (dystrophies primarily involving the retinal pigment epithelium) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.54"^^xsd:string) AnnotationAssertion( "ICD9CM:362.76"^^xsd:string) AnnotationAssertion( "RDO:9002925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14252"^^xsd:string) AnnotationAssertion(rdfs:label "dystrophies primarily involving the retinal pigment epithelium"^^xsd:string) SubClassOf( ) # Class: (retinal dystrophy in systemic or cerebroretinal lipidoses) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14253"^^xsd:string) AnnotationAssertion(rdfs:label "retinal dystrophy in systemic or cerebroretinal lipidoses"^^xsd:string) SubClassOf( ) # Class: (adult-onset Still's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/adult-stills-disease/DS00792"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm"^^xsd:string) Annotation( "http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html"^^xsd:string) Annotation( "https://www.aiarthritis.org/stillsdisease"^^xsd:string) "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007135"^^xsd:string) AnnotationAssertion( "GARD:436"^^xsd:string) AnnotationAssertion( "ICD10CM:M06.1"^^xsd:string) AnnotationAssertion( "MESH:D016706"^^xsd:string) AnnotationAssertion( "NCI:C197832"^^xsd:string) AnnotationAssertion( "adult-onset Still disease"^^xsd:string) AnnotationAssertion( "adult-onset Stills disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14256"^^xsd:string) AnnotationAssertion(rdfs:label "adult-onset Still's disease"^^xsd:string) SubClassOf( ) # Class: (ureteral disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html"^^xsd:string) "A urinary system disease that is located_in the ureter. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014515"^^xsd:string) AnnotationAssertion( "NCI:C27148"^^xsd:string) AnnotationAssertion( "ureteral diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1426"^^xsd:string) AnnotationAssertion(rdfs:label "ureteral disease"^^xsd:string) SubClassOf( ) # Class: (fragile X syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fragile_X_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/300624"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908"^^xsd:string) "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300624"^^xsd:string) AnnotationAssertion( "GARD:6464"^^xsd:string) AnnotationAssertion( "ICD10CM:Q99.2"^^xsd:string) AnnotationAssertion( "ICD9CM:759.83"^^xsd:string) AnnotationAssertion( "MESH:D005600"^^xsd:string) AnnotationAssertion( "MONDO:0010383"^^xsd:string) AnnotationAssertion( "NCI:C84717"^^xsd:string) AnnotationAssertion( "ORDO:908"^^xsd:string) AnnotationAssertion( "FRAXA Syndrome"^^xsd:string) AnnotationAssertion( "FRAXA Syndromes"^^xsd:string) AnnotationAssertion( "Fra(X) Syndrome"^^xsd:string) AnnotationAssertion( "Fragile X Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Fragile X Syndromes"^^xsd:string) AnnotationAssertion( "Mar (X) Syndrome"^^xsd:string) AnnotationAssertion( "Marker X Syndrome"^^xsd:string) AnnotationAssertion( "Marker X Syndromes"^^xsd:string) AnnotationAssertion( "Martin Bell Syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation and macroorchidism"^^xsd:string) AnnotationAssertion( "X-linked mental retardation associated with MARXQ28"^^xsd:string) AnnotationAssertion( "fragile X-F mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14261"^^xsd:string) AnnotationAssertion(rdfs:label "fragile X syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oral candidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oral_candidiasis"^^xsd:string) "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007406"^^xsd:string) AnnotationAssertion( "ICD10CM:B37.9"^^xsd:string) AnnotationAssertion( "ICD9CM:112.0"^^xsd:string) AnnotationAssertion( "MESH:D002180"^^xsd:string) AnnotationAssertion( "NCI:C28137"^^xsd:string) AnnotationAssertion( "Oral Candidiases"^^xsd:string) AnnotationAssertion( "Oral Moniliases"^^xsd:string) AnnotationAssertion( "Oral Moniliasis"^^xsd:string) AnnotationAssertion( "Thrush"^^xsd:string) AnnotationAssertion( "candidiasis of mouth"^^xsd:string) AnnotationAssertion( "oral thrush"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14262"^^xsd:string) AnnotationAssertion(rdfs:label "oral candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign neonatal seizures) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK32534/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927"^^xsd:string) "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020936"^^xsd:string) AnnotationAssertion( "MIM:PS121200"^^xsd:string) AnnotationAssertion( "NCI:C84593"^^xsd:string) AnnotationAssertion( "ORDO:1949"^^xsd:string) AnnotationAssertion( "Benign Neonatal Convulsion"^^xsd:string) AnnotationAssertion( "Benign Neonatal Epilepsies"^^xsd:string) AnnotationAssertion( "Benign Neonatal Non Familial Convulsions"^^xsd:string) AnnotationAssertion( "Benign Neonatal-Infantile Epilepsies"^^xsd:string) AnnotationAssertion( "Benign Neonatal-Infantile Epilepsy"^^xsd:string) AnnotationAssertion( "NEONATAL SEIZURE"^^xsd:string) AnnotationAssertion( "benign neonatal convulsions"^^xsd:string) AnnotationAssertion( "benign neonatal epilepsy"^^xsd:string) AnnotationAssertion( "benign neonatal nonfamilial epilepsy"^^xsd:string) AnnotationAssertion( "neonatal seizures"^^xsd:string) AnnotationAssertion( "non familial benign neonatal epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14264"^^xsd:string) AnnotationAssertion(rdfs:label "benign neonatal seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary valve insufficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/pulmonary_insufficiency"^^xsd:string) "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011665"^^xsd:string) AnnotationAssertion( "NCI:C50848"^^xsd:string) AnnotationAssertion( "NCI:C51447"^^xsd:string) AnnotationAssertion( "NCI:C62436"^^xsd:string) AnnotationAssertion( "Pulmonary Valve Incompetence"^^xsd:string) AnnotationAssertion( "pulmonary incompetence"^^xsd:string) AnnotationAssertion( "pulmonary incompetence, non-rheumatic"^^xsd:string) AnnotationAssertion( "pulmonary insufficiency following trauma and surgery"^^xsd:string) AnnotationAssertion( "pulmonary regurg."^^xsd:string) AnnotationAssertion( "pulmonary regurgitation"^^xsd:string) AnnotationAssertion( "pulmonary valve regurgitation"^^xsd:string) AnnotationAssertion( "pulmonic insufficiency"^^xsd:string) AnnotationAssertion( "pulmonic valve regurgitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14265"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary valve insufficiency"^^xsd:string) SubClassOf( ) # Class: (sclerosing cholangitis) AnnotationAssertion(Annotation( "MESH:D015209"^^xsd:string) "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS."^^xsd:string) AnnotationAssertion( "MIM:617394"^^xsd:string) AnnotationAssertion( "EFO:0004268"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.09"^^xsd:string) AnnotationAssertion( "MESH:D015209"^^xsd:string) AnnotationAssertion( "ISOLATED NEONATAL SCLEROSING CHOLANGITIS"^^xsd:string) AnnotationAssertion( "Sclerosing Cholangiitides"^^xsd:string) AnnotationAssertion( "Sclerosing Cholangiitis"^^xsd:string) AnnotationAssertion( "Sclerosing Cholangitides"^^xsd:string) AnnotationAssertion( "fibrosing cholangitis"^^xsd:string) AnnotationAssertion( "neonatal sclerosing cholangiitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14268"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing cholangitis"^^xsd:string) SubClassOf( ) # Class: (suppurative cholangitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35336"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14269"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative cholangitis"^^xsd:string) SubClassOf( ) # Class: (ascending cholangitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.0"^^xsd:string) AnnotationAssertion( "NCI:C35372"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14270"^^xsd:string) AnnotationAssertion(rdfs:label "ascending cholangitis"^^xsd:string) SubClassOf( ) # Class: (acute cholangitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35334"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14271"^^xsd:string) AnnotationAssertion(rdfs:label "acute cholangitis"^^xsd:string) SubClassOf( ) # Class: (pericholangitis) AnnotationAssertion( "Inflammation of the tissue surrounding the biliary ducts. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C34916"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14272"^^xsd:string) AnnotationAssertion(rdfs:label "pericholangitis"^^xsd:string) SubClassOf( ) # Class: (atrophic vulva) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/"^^xsd:string) "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N90.5"^^xsd:string) AnnotationAssertion( "ICD9CM:624.1"^^xsd:string) AnnotationAssertion( "atrophy of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14275"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic vulva"^^xsd:string) SubClassOf( ) # Class: (shoulder impingement syndrome) AnnotationAssertion(Annotation( "MESH:D019534"^^xsd:string) "Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION."^^xsd:string) AnnotationAssertion( "EFO:1001178"^^xsd:string) AnnotationAssertion( "ICD10CM:M75.4"^^xsd:string) AnnotationAssertion( "MESH:D019534"^^xsd:string) AnnotationAssertion( "Coracohumeral Impingement"^^xsd:string) AnnotationAssertion( "Coracohumeral Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Coracohumeral Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Coracoid Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Coracoid Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Internal Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Internal Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Outlet Impingement"^^xsd:string) AnnotationAssertion( "Outlet Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Outlet Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Outlet Impingements"^^xsd:string) AnnotationAssertion( "Posterosuperior Glenoid Impingement"^^xsd:string) AnnotationAssertion( "Posterosuperior Glenoid Impingements"^^xsd:string) AnnotationAssertion( "Rotator Cuff Impingement"^^xsd:string) AnnotationAssertion( "Rotator Cuff Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Rotator Cuff Impingements"^^xsd:string) AnnotationAssertion( "Shoulder Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Subacromial Impingement Syndrome"^^xsd:string) AnnotationAssertion( "coracohumeral impingements"^^xsd:string) AnnotationAssertion( "impingement syndrome of shoulder region"^^xsd:string) AnnotationAssertion( "subacromial impingement"^^xsd:string) AnnotationAssertion( "subacromial impingement syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14276"^^xsd:string) AnnotationAssertion(rdfs:label "shoulder impingement syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (endocrine pancreas disease) AnnotationAssertion(Annotation( "https://columbiasurgery.org/pancreas/pancreas-and-its-functions"^^xsd:string) "A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E16"^^xsd:string) AnnotationAssertion( "ICD9CM:251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1428"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine pancreas disease"^^xsd:string) SubClassOf( ) # Class: (primary hypertrophic osteoarthropathy) AnnotationAssertion(Annotation( "MESH:D010004"^^xsd:string) "A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists."^^xsd:string) AnnotationAssertion( "MIM:119900"^^xsd:string) AnnotationAssertion( "ICD10CM:M89.4"^^xsd:string) AnnotationAssertion( "MESH:D010004"^^xsd:string) AnnotationAssertion( "MIM:PS259100"^^xsd:string) AnnotationAssertion( "NCI:C85023"^^xsd:string) AnnotationAssertion( "COA"^^xsd:string) AnnotationAssertion( "Cranioosteoarthropathy"^^xsd:string) AnnotationAssertion( "Digital Clubbing, Isolated Congenital"^^xsd:string) AnnotationAssertion( "Hereditary Acropachy"^^xsd:string) AnnotationAssertion( "Idiopathic Hypertrophic Osteoarthropathy"^^xsd:string) AnnotationAssertion( "Touraine-Solente-Gole syndrome"^^xsd:string) AnnotationAssertion( "clubbing of digits"^^xsd:string) AnnotationAssertion( "cranioosteoarthropathies"^^xsd:string) AnnotationAssertion( "hereditary acropachies"^^xsd:string) AnnotationAssertion( "pachydermoperiostosis"^^xsd:string) AnnotationAssertion( "pachydermoperiostosis of nail"^^xsd:string) AnnotationAssertion( "pachydermoperiostosis syndrome"^^xsd:string) AnnotationAssertion( "pachydermoperiostosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "CIO"^^xsd:string) AnnotationAssertion( "CURRARINO IDIOPATHIC OSTEOARTHROPATHY"^^xsd:string) AnnotationAssertion( "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD"^^xsd:string) AnnotationAssertion( "PDP, autosomal recessive"^^xsd:string) AnnotationAssertion( "PHO, autosomal recessive"^^xsd:string) AnnotationAssertion( "primary hypertrophic osteoarthropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14283"^^xsd:string) AnnotationAssertion(rdfs:label "primary hypertrophic osteoarthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (patellofemoral pain syndrome) AnnotationAssertion(Annotation( "MESH:D046788"^^xsd:string) "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome."^^xsd:string) AnnotationAssertion( "EFO:1001092"^^xsd:string) AnnotationAssertion( "MESH:D046788"^^xsd:string) AnnotationAssertion( "Anterior Knee Pain Syndrome"^^xsd:string) AnnotationAssertion( "Patellofemoral Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14284"^^xsd:string) AnnotationAssertion(rdfs:label "patellofemoral pain syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurogenic arthropathy) AnnotationAssertion(Annotation( "MESH:D001177"^^xsd:string) "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001378"^^xsd:string) AnnotationAssertion( "ICD10CM:M14.6"^^xsd:string) AnnotationAssertion( "ICD9CM:713.5"^^xsd:string) AnnotationAssertion( "MESH:D001177"^^xsd:string) AnnotationAssertion( "RDO:0000478"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:713.5"^^xsd:string) "Arthropathy associated with neurological disorder"^^xsd:string) AnnotationAssertion( "Charcot Joint"^^xsd:string) AnnotationAssertion( "Charcot's Joint"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:239824003"^^xsd:string) "Charcot's arthropathy"^^xsd:string) AnnotationAssertion( "Charcots Joint"^^xsd:string) AnnotationAssertion( "Neurogenic Arthropathies"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:201734004"^^xsd:string) "Neuropathic arthropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14286"^^xsd:string) AnnotationAssertion(rdfs:label "neurogenic arthropathy"^^xsd:string) SubClassOf( ) # Class: (brawny scleritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Scleritis"^^xsd:string) Annotation( "https://www.aao.org/eye-health/diseases/what-is-scleritis"^^xsd:string) "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.02"^^xsd:string) AnnotationAssertion( "ICD9CM:379.06"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14287"^^xsd:string) AnnotationAssertion(rdfs:label "brawny scleritis"^^xsd:string) SubClassOf( ) # Class: (Ebstein anomaly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ebstein_anomaly"^^xsd:string) "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. (DO)"^^xsd:string) AnnotationAssertion( "MIM:224700"^^xsd:string) AnnotationAssertion( "EFO:0007244"^^xsd:string) AnnotationAssertion( "GARD:6313"^^xsd:string) AnnotationAssertion( "ICD10CM:Q22.5"^^xsd:string) AnnotationAssertion( "ICD9CM:746.2"^^xsd:string) AnnotationAssertion( "MESH:D004437"^^xsd:string) AnnotationAssertion( "NCI:C84681"^^xsd:string) AnnotationAssertion( "Ebstein Malformation"^^xsd:string) AnnotationAssertion( "Ebstein's Anomaly"^^xsd:string) AnnotationAssertion( "Ebstein's Malformation"^^xsd:string) AnnotationAssertion( "Ebstein's anomaly of common atrioventricular valve"^^xsd:string) AnnotationAssertion( "Ebstein's anomaly of right atrioventricular valve"^^xsd:string) AnnotationAssertion( "Ebstein's anomaly of tricuspid valve"^^xsd:string) AnnotationAssertion( "Ebsteins Anomaly"^^xsd:string) AnnotationAssertion( "Ebsteins Malformation"^^xsd:string) AnnotationAssertion( "Familial Ebstein Anomaly"^^xsd:string) AnnotationAssertion( "Familial Ebstein's Anomaly"^^xsd:string) AnnotationAssertion( "Familial Ebsteins Anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14289"^^xsd:string) AnnotationAssertion(rdfs:label "Ebstein anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan syndrome with multiple lentigines) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome"^^xsd:string) "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)"^^xsd:string) AnnotationAssertion( "GARD:1100"^^xsd:string) AnnotationAssertion( "MESH:D044542"^^xsd:string) AnnotationAssertion( "MIM:PS151100"^^xsd:string) AnnotationAssertion( "NCI:C84820"^^xsd:string) AnnotationAssertion( "ORDO:500"^^xsd:string) AnnotationAssertion( "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome"^^xsd:string) AnnotationAssertion( "Cardiocutaneous syndrome"^^xsd:string) AnnotationAssertion( "Cardiomyopathic Lentiginoses"^^xsd:string) AnnotationAssertion( "Cardiomyopathic Lentiginosis"^^xsd:string) AnnotationAssertion( "Gorlin syndrome II"^^xsd:string) AnnotationAssertion( "LEOPARD Syndromes"^^xsd:string) AnnotationAssertion( "LEOPARD syndrome"^^xsd:string) AnnotationAssertion( "Lentiginosis Cardiomyopathics"^^xsd:string) AnnotationAssertion( "Lentiginosis profusa syndrome"^^xsd:string) AnnotationAssertion( "Moynahan syndrome"^^xsd:string) AnnotationAssertion( "Multiple Lentigines Syndrome"^^xsd:string) AnnotationAssertion( "cardio cutaneous syndrome"^^xsd:string) AnnotationAssertion( "cardio-cutaneous syndromes"^^xsd:string) AnnotationAssertion( "progressive cardiomyopathic lentiginoses"^^xsd:string) AnnotationAssertion( "progressive cardiomyopathic lentiginosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14291"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome with multiple lentigines"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vulvar dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1449423"^^xsd:string) "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N90.4"^^xsd:string) AnnotationAssertion( "ICD9CM:624.0"^^xsd:string) AnnotationAssertion( "NCI:C34565"^^xsd:string) AnnotationAssertion( "dystrophy of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14292"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar dystrophy"^^xsd:string) SubClassOf( ) # Class: (tuberculous empyema) AnnotationAssertion(Annotation( "http://erj.ersjournals.com/cgi/reprint/10/4/942"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema"^^xsd:string) "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007528"^^xsd:string) AnnotationAssertion( "MESH:D004654"^^xsd:string) AnnotationAssertion( "NCI:C34575"^^xsd:string) AnnotationAssertion( "tuberculous empyemas"^^xsd:string) AnnotationAssertion( "tuberculous pleural empyema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14305"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous empyema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin epithelioid hemangioma) AnnotationAssertion( "EFO:1001424"^^xsd:string) AnnotationAssertion( "NCI:C7393"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7393"^^xsd:string) "Angiolymphoid Cutaneous hyperplasia"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254791004"^^xsd:string) "epithelioid hemangioma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14308"^^xsd:string) AnnotationAssertion(rdfs:label "skin epithelioid hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleuropneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia"^^xsd:string) "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011001"^^xsd:string) AnnotationAssertion( "pleuropneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14319"^^xsd:string) AnnotationAssertion(rdfs:label "pleuropneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blindness) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Visual_impairment"^^xsd:string) Annotation( "https://nei.nih.gov/eyedata/blind"^^xsd:string) Annotation( "https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html"^^xsd:string) "An eye disease characterized by a lack or loss of vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006323"^^xsd:string) AnnotationAssertion( "ICD10CM:H54"^^xsd:string) AnnotationAssertion( "ICD9CM:369"^^xsd:string) AnnotationAssertion( "MESH:D001766"^^xsd:string) AnnotationAssertion( "Complete Blindness"^^xsd:string) AnnotationAssertion( "Hysterical Blindness"^^xsd:string) AnnotationAssertion( "acquired blindness"^^xsd:string) AnnotationAssertion( "amauroses"^^xsd:string) AnnotationAssertion( "amaurosis"^^xsd:string) AnnotationAssertion( "legal blindness"^^xsd:string) AnnotationAssertion( "monocular blindness"^^xsd:string) AnnotationAssertion( "transient blindness"^^xsd:string) AnnotationAssertion( "vision impairment"^^xsd:string) AnnotationAssertion( "vision loss"^^xsd:string) AnnotationAssertion( "antidepressant-induced visual impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1432"^^xsd:string) AnnotationAssertion(rdfs:label "blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (generalized anxiety disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string) "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001892"^^xsd:string) AnnotationAssertion( "ICD10CM:F41.1"^^xsd:string) AnnotationAssertion( "ICD9CM:300.02"^^xsd:string) AnnotationAssertion( "NCI:C92622"^^xsd:string) AnnotationAssertion( "RDO:9002663"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14320"^^xsd:string) AnnotationAssertion(rdfs:label "generalized anxiety disorder"^^xsd:string) SubClassOf( ) # Class: (Marfan syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/marfan-syndrome/"^^xsd:string) "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)"^^xsd:string) AnnotationAssertion( "MIM:154700"^^xsd:string) AnnotationAssertion( "GARD:6975"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.4"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.40"^^xsd:string) AnnotationAssertion( "ICD9CM:759.82"^^xsd:string) AnnotationAssertion( "MESH:D008382"^^xsd:string) AnnotationAssertion( "NCI:C34807"^^xsd:string) AnnotationAssertion( "MFS"^^xsd:string) AnnotationAssertion( "MFS1"^^xsd:string) AnnotationAssertion( "Marfan syndrome, type I"^^xsd:string) AnnotationAssertion( "Marfan's syndrome"^^xsd:string) AnnotationAssertion( "Marfans syndrome"^^xsd:string) AnnotationAssertion( "Marfan Syndrome, Incomplete"^^xsd:string) AnnotationAssertion( "Marfan syndrome, atypical"^^xsd:string) AnnotationAssertion( "Marfan syndrome, mild variable"^^xsd:string) AnnotationAssertion( "Marfan syndrome, neonatal"^^xsd:string) AnnotationAssertion( "Marfan syndrome, severe classic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Marfanoid habitus"^^xsd:string) AnnotationAssertion( "DOID:14323"^^xsd:string) AnnotationAssertion(rdfs:label "Marfan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Plasmodium malariae malaria) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria"^^xsd:string) "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B52"^^xsd:string) AnnotationAssertion( "ICD9CM:084.2"^^xsd:string) AnnotationAssertion( "NCI:C34799"^^xsd:string) AnnotationAssertion( "RDO:9003908"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:084.2"^^xsd:string) "Malaria by Plasmodium malariae"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C34799"^^xsd:string) "Quartan Malaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14324"^^xsd:string) AnnotationAssertion(rdfs:label "Plasmodium malariae malaria"^^xsd:string) SubClassOf( ) # Class: (mixed malaria) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15105024"^^xsd:string) "A malaria that involves infection with more than one species of Plasmodium at the same time. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:084.5"^^xsd:string) AnnotationAssertion( "malaria by more than one parasite"^^xsd:string) AnnotationAssertion( "malaria fever by more than one parasite"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14325"^^xsd:string) AnnotationAssertion(rdfs:label "mixed malaria"^^xsd:string) SubClassOf( ) # Class: (Parkinson's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parkinson%27s_disease"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26474316/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/"^^xsd:string) "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002508"^^xsd:string) AnnotationAssertion( "GARD:10251"^^xsd:string) AnnotationAssertion( "ICD9CM:332"^^xsd:string) AnnotationAssertion( "MESH:D010300"^^xsd:string) AnnotationAssertion( "MIM:PS168600"^^xsd:string) AnnotationAssertion( "MONDO:0005180"^^xsd:string) AnnotationAssertion( "NCI:C26845"^^xsd:string) AnnotationAssertion( "ORDO:2828"^^xsd:string) AnnotationAssertion( "Idiopathic Parkinson's Disease"^^xsd:string) AnnotationAssertion( "Lewy Body Parkinson Disease"^^xsd:string) AnnotationAssertion( "Lewy Body Parkinson's Disease"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, DOMINANT/RECESSIVE"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE, DOMINANT"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE, DOMINANT/RECESSIVE"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE, RECESSIVE"^^xsd:string) AnnotationAssertion( "Paralysis Agitans"^^xsd:string) AnnotationAssertion( "Parkinson Disease"^^xsd:string) AnnotationAssertion( "idiopathic Parkinson disease"^^xsd:string) AnnotationAssertion( "primary parkinsonism"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, DOMINANT"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, RECESSIVE"^^xsd:string) AnnotationAssertion( "PARKINSONISM/MELAS OVERLAP SYNDROME"^^xsd:string) AnnotationAssertion( "familial Parkinson's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Susceptibility To"^^xsd:string) AnnotationAssertion( "Parkinson's disease, resistance to"^^xsd:string) AnnotationAssertion( "Parkinson's disease, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:14330"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (postencephalitic Parkinson disease) AnnotationAssertion(Annotation( "MESH:D010301"^^xsd:string) "Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"^^xsd:string) AnnotationAssertion( "EFO:1001402"^^xsd:string) AnnotationAssertion( "ICD10CM:G21.3"^^xsd:string) AnnotationAssertion( "MESH:D010301"^^xsd:string) AnnotationAssertion( "NCI:C34898"^^xsd:string) AnnotationAssertion( "Parkinson's Disease, Postencephalitic"^^xsd:string) AnnotationAssertion( "Post Encephalitic Parkinson Disease"^^xsd:string) AnnotationAssertion( "Post Encephalitic Parkinson's Disease"^^xsd:string) AnnotationAssertion( "Postencephalitic Economo Type Parkinsonism"^^xsd:string) AnnotationAssertion( "Postencephalitic Parkinsonism"^^xsd:string) AnnotationAssertion( "Postencephalitis Parkinsonian Syndrome"^^xsd:string) AnnotationAssertion( "encephalitis lethargica type parkinsonism"^^xsd:string) AnnotationAssertion( "viral meningoencephalitic parkinsonism"^^xsd:string) AnnotationAssertion( "viral meningoencephalitic parkinsonisms"^^xsd:string) AnnotationAssertion( "von Economo encephalitis type parkinsonism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14332"^^xsd:string) AnnotationAssertion(rdfs:label "postencephalitic Parkinson disease"^^xsd:string) SubClassOf( ) # Class: (estrogen excess) AnnotationAssertion(Annotation( "https://www.icd10data.com/ICD10CM/Codes/E00-E89/E20-E35/E28-/E28.0"^^xsd:string) "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009004"^^xsd:string) AnnotationAssertion( "ICD10CM:E28.0"^^xsd:string) AnnotationAssertion( "ICD9CM:256.0"^^xsd:string) AnnotationAssertion( "NCI:C113344"^^xsd:string) AnnotationAssertion( "RDO:9003783"^^xsd:string) AnnotationAssertion( "hyperestrogenism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14336"^^xsd:string) AnnotationAssertion(rdfs:label "estrogen excess"^^xsd:string) SubClassOf( ) # Class: (suppurative thyroiditis) AnnotationAssertion(Annotation( "MESH:D013969"^^xsd:string) "Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001431"^^xsd:string) AnnotationAssertion( "MESH:D013969"^^xsd:string) AnnotationAssertion( "NCI:C129724"^^xsd:string) AnnotationAssertion( "Acute Infectious Thyroiditis"^^xsd:string) AnnotationAssertion( "Acute Suppurative Thyroiditides"^^xsd:string) AnnotationAssertion( "Acute Suppurative Thyroiditis"^^xsd:string) AnnotationAssertion( "Infectious Thyroiditides"^^xsd:string) AnnotationAssertion( "Infectious Thyroiditis"^^xsd:string) AnnotationAssertion( "acute infectious thyroiditides"^^xsd:string) AnnotationAssertion( "suppurative thyroiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14350"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative thyroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Riedel's fibrosing thyroiditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E06.5"^^xsd:string) AnnotationAssertion( "NCI:C35827"^^xsd:string) AnnotationAssertion( "RDO:9003748"^^xsd:string) AnnotationAssertion( "Riedel fibrosing thyroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14351"^^xsd:string) AnnotationAssertion(rdfs:label "Riedel's fibrosing thyroiditis"^^xsd:string) SubClassOf( ) # Class: (acute thyroiditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E06.0"^^xsd:string) AnnotationAssertion( "ICD9CM:245.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14353"^^xsd:string) AnnotationAssertion(rdfs:label "acute thyroiditis"^^xsd:string) SubClassOf( ) # Class: (corneal ectasia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.71"^^xsd:string) AnnotationAssertion( "ICD9CM:371.71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1436"^^xsd:string) AnnotationAssertion(rdfs:label "corneal ectasia"^^xsd:string) SubClassOf( ) # Class: (systemic primary carnitine deficiency disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carnitine_deficiency"^^xsd:string) "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:212140"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.41"^^xsd:string) AnnotationAssertion( "ICD9CM:277.81"^^xsd:string) AnnotationAssertion( "MESH:C536778"^^xsd:string) AnnotationAssertion( "NCI:C98864"^^xsd:string) AnnotationAssertion( "CDSP"^^xsd:string) AnnotationAssertion( "CUD"^^xsd:string) AnnotationAssertion( "Carnitine Uptake Deficiency"^^xsd:string) AnnotationAssertion( "Carnitine uptake defect"^^xsd:string) AnnotationAssertion( "SCD"^^xsd:string) AnnotationAssertion( "carnitine transporter deficiency"^^xsd:string) AnnotationAssertion( "carnitine transporter, plasma-membrane, deficiency of"^^xsd:string) AnnotationAssertion( "primary carnitine deficiency"^^xsd:string) AnnotationAssertion( "renal carnitine transport defect"^^xsd:string) AnnotationAssertion( "systemic carnitine deficiency"^^xsd:string) AnnotationAssertion( "systemic carnitine deficiency due to defect in renal reabsorption of carnitine"^^xsd:string) AnnotationAssertion( "systemic primary carnitine deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14365"^^xsd:string) AnnotationAssertion(rdfs:label "systemic primary carnitine deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (norwegian scabies) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm"^^xsd:string) "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C34855"^^xsd:string) AnnotationAssertion( "crusted scabies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14374"^^xsd:string) AnnotationAssertion(rdfs:label "norwegian scabies"^^xsd:string) SubClassOf( ) # Class: (parietal lobe neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parietal_lobe"^^xsd:string) "A cerebrum cancer that is located_in the parietal lobe. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.3"^^xsd:string) AnnotationAssertion( "ICD9CM:191.3"^^xsd:string) AnnotationAssertion( "NCI:C5573"^^xsd:string) AnnotationAssertion( "malignant neoplasm of parietal lobe"^^xsd:string) AnnotationAssertion( "tumor of parietal lobe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14384"^^xsd:string) AnnotationAssertion(rdfs:label "parietal lobe neoplasm"^^xsd:string) SubClassOf( ) # Class: (pyuria) AnnotationAssertion(Annotation( "MESH:D011776"^^xsd:string) "The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer."^^xsd:string) AnnotationAssertion( "ICD10CM:R82.81"^^xsd:string) AnnotationAssertion( "MESH:D011776"^^xsd:string) AnnotationAssertion( "NCI:C119028"^^xsd:string) AnnotationAssertion( "pus cells in urine"^^xsd:string) AnnotationAssertion( "pyurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1439"^^xsd:string) AnnotationAssertion(rdfs:label "pyuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thrombophlebitis migrans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thrombophlebitis"^^xsd:string) "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I82.1"^^xsd:string) AnnotationAssertion( "ICD9CM:453.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14392"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophlebitis migrans"^^xsd:string) SubClassOf( ) # Class: (protozoal dysentery) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysentery"^^xsd:string) "A dysentery that involves protozoan infection. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.8"^^xsd:string) AnnotationAssertion( "ICD9CM:007.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14397"^^xsd:string) AnnotationAssertion(rdfs:label "protozoal dysentery"^^xsd:string) SubClassOf( ) # Class: (Machado-Joseph disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease"^^xsd:string) Annotation( "http://omim.org/entry/109150"^^xsd:string) Annotation( "http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract"^^xsd:string) "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:109150"^^xsd:string) AnnotationAssertion( "EFO:0004135"^^xsd:string) AnnotationAssertion( "MESH:D017827"^^xsd:string) AnnotationAssertion( "MONDO:0007182"^^xsd:string) AnnotationAssertion( "NCI:C84830"^^xsd:string) AnnotationAssertion( "Azorean Disease"^^xsd:string) AnnotationAssertion( "Azorean Neurologic Disease"^^xsd:string) AnnotationAssertion( "Azorean ataxia"^^xsd:string) AnnotationAssertion( "Joseph Azorean Disease"^^xsd:string) AnnotationAssertion( "Joseph Disease"^^xsd:string) AnnotationAssertion( "MJD"^^xsd:string) AnnotationAssertion( "Machado Joseph Azorean Disease"^^xsd:string) AnnotationAssertion( "Machado Joseph Disease Type I"^^xsd:string) AnnotationAssertion( "Machado Joseph Disease Type II"^^xsd:string) AnnotationAssertion( "Machado Joseph Disease Type III"^^xsd:string) AnnotationAssertion( "Machado Joseph Disease Type IV"^^xsd:string) AnnotationAssertion( "Nervous System Azorean Disease"^^xsd:string) AnnotationAssertion( "Nigrospinodentatal Degeneration"^^xsd:string) AnnotationAssertion( "SCA3"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia 3"^^xsd:string) AnnotationAssertion( "Spinocerebellar Ataxia Type 3"^^xsd:string) AnnotationAssertion( "autosomal dominant striatonigral degeneration"^^xsd:string) AnnotationAssertion( "nigrospinodentatal degenerations"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy III"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy type 3"^^xsd:string) AnnotationAssertion( "spinopontine atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1440"^^xsd:string) AnnotationAssertion(rdfs:label "Machado-Joseph disease"^^xsd:string) SubClassOf( ) # Class: (capillary leak syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/"^^xsd:string) "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001284"^^xsd:string) AnnotationAssertion( "EFO:1001477"^^xsd:string) AnnotationAssertion( "GARD:1084"^^xsd:string) AnnotationAssertion( "MESH:D019559"^^xsd:string) AnnotationAssertion( "NCI:C62578"^^xsd:string) AnnotationAssertion( "ORDO:188"^^xsd:string) AnnotationAssertion( "Clarkson disease"^^xsd:string) AnnotationAssertion( "capillary leak syndromes"^^xsd:string) AnnotationAssertion( "clinical capillary leak syndrome"^^xsd:string) AnnotationAssertion( "systemic capillary leak syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14400"^^xsd:string) AnnotationAssertion(rdfs:label "capillary leak syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (critical illness polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G62.81"^^xsd:string) AnnotationAssertion( "ICD9CM:357.82"^^xsd:string) AnnotationAssertion( "RDO:9002724"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14402"^^xsd:string) AnnotationAssertion(rdfs:label "critical illness polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (autosomal dominant cerebellar ataxia) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1138/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK22234/"^^xsd:string) "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS164400"^^xsd:string) AnnotationAssertion( "NCI:C82341"^^xsd:string) AnnotationAssertion( "ORDO:94"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1441"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant cerebellar ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (labyrinthine bilateral reactive loss) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.56"^^xsd:string) AnnotationAssertion( "bilateral loss of labyrinthine reactivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14413"^^xsd:string) AnnotationAssertion(rdfs:label "labyrinthine bilateral reactive loss"^^xsd:string) SubClassOf( ) # Class: (Legg-Calve-Perthes disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome"^^xsd:string) "An osteochondrosis that results_in death and fracture located_in hip joint. (DO)"^^xsd:string) AnnotationAssertion( "MIM:150600"^^xsd:string) AnnotationAssertion( "EFO:0007341"^^xsd:string) AnnotationAssertion( "GARD:6874"^^xsd:string) AnnotationAssertion( "ICD10CM:M91.2"^^xsd:string) AnnotationAssertion( "ICD10CM:M91.3"^^xsd:string) AnnotationAssertion( "MESH:D007873"^^xsd:string) AnnotationAssertion( "MONDO:0007885"^^xsd:string) AnnotationAssertion( "NCI:C34766"^^xsd:string) AnnotationAssertion( "Calve - Perthes' disease"^^xsd:string) AnnotationAssertion( "Juvenile osteochond-hip/pelvis"^^xsd:string) AnnotationAssertion( "LCP"^^xsd:string) AnnotationAssertion( "LCPD"^^xsd:string) AnnotationAssertion( "Legg Calve Perthes Syndrome"^^xsd:string) AnnotationAssertion( "Legg Calvé Perthes Disease"^^xsd:string) AnnotationAssertion( "Legg Calvé Perthes Syndrome"^^xsd:string) AnnotationAssertion( "Legg Perthes Disease"^^xsd:string) AnnotationAssertion( "Osteochondritis Deforman"^^xsd:string) AnnotationAssertion( "Osteochondritis Deformans"^^xsd:string) AnnotationAssertion( "Perthe's disease"^^xsd:string) AnnotationAssertion( "Perthes disease"^^xsd:string) AnnotationAssertion( "coxa plana"^^xsd:string) AnnotationAssertion( "juvenile osteochondrosis of hip and pelvis"^^xsd:string) AnnotationAssertion( "juvenile osteochondrosis of hip and/or pelvis"^^xsd:string) AnnotationAssertion( "osteochondrosis of Legg-Calve-Perthes"^^xsd:string) AnnotationAssertion( "pseudocoxalgia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Legg-Calve-Perthes symptom"^^xsd:string) AnnotationAssertion( "DOID:14415"^^xsd:string) AnnotationAssertion(rdfs:label "Legg-Calve-Perthes disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dracunculiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dracunculiasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007241"^^xsd:string) AnnotationAssertion( "GARD:6286"^^xsd:string) AnnotationAssertion( "ICD10CM:B72"^^xsd:string) AnnotationAssertion( "ICD9CM:125.7"^^xsd:string) AnnotationAssertion( "MESH:D004320"^^xsd:string) AnnotationAssertion( "NCI:C84677"^^xsd:string) AnnotationAssertion( "Dracunculoses"^^xsd:string) AnnotationAssertion( "Dracunculosis"^^xsd:string) AnnotationAssertion( "Guinea Worm Disease"^^xsd:string) AnnotationAssertion( "Guinea Worm Diseases"^^xsd:string) AnnotationAssertion( "Guinea Worm Infection"^^xsd:string) AnnotationAssertion( "dracontiasis"^^xsd:string) AnnotationAssertion( "dracunculiases"^^xsd:string) AnnotationAssertion( "infection by Dracunculus medinensis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14418"^^xsd:string) AnnotationAssertion(rdfs:label "dracunculiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (dipetalonemiasis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false"^^xsd:string) "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007237"^^xsd:string) AnnotationAssertion( "ICD9CM:125.4"^^xsd:string) AnnotationAssertion( "MESH:D004154"^^xsd:string) AnnotationAssertion( "NCI:C34540"^^xsd:string) AnnotationAssertion( "dipetalonema Infections"^^xsd:string) AnnotationAssertion( "dipetalonema infection"^^xsd:string) AnnotationAssertion( "dipetalonema infectious disease"^^xsd:string) AnnotationAssertion( "dipetalonemiases"^^xsd:string) AnnotationAssertion( "infection by dipetalonema"^^xsd:string) AnnotationAssertion( "infection by dipetalonema perstans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14422"^^xsd:string) AnnotationAssertion(rdfs:label "dipetalonemiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glossopharyngeal neuralgia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6519"^^xsd:string) AnnotationAssertion( "ICD10CM:G52.1"^^xsd:string) AnnotationAssertion( "ICD9CM:352.1"^^xsd:string) AnnotationAssertion( "glossopharyngeal neuralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14423"^^xsd:string) AnnotationAssertion(rdfs:label "glossopharyngeal neuralgia"^^xsd:string) SubClassOf( ) # Class: (abnormality of glucagon secretion) AnnotationAssertion( "ICD9CM:251.4"^^xsd:string) AnnotationAssertion( "glucagon secretion abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14427"^^xsd:string) AnnotationAssertion(rdfs:label "abnormality of glucagon secretion"^^xsd:string) SubClassOf( ) # Class: (cerebral degeneration) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neurodegeneration"^^xsd:string) "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6019"^^xsd:string) AnnotationAssertion( "ICD9CM:331.9"^^xsd:string) AnnotationAssertion( "brain degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1443"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral degeneration"^^xsd:string) SubClassOf( ) # Class: (chronic tubotympanic suppurative otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false"^^xsd:string) "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H66.1"^^xsd:string) AnnotationAssertion( "ICD9CM:382.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14435"^^xsd:string) AnnotationAssertion(rdfs:label "chronic tubotympanic suppurative otitis media"^^xsd:string) SubClassOf( ) # Class: (cholinergic urticaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cholinergic_urticaria"^^xsd:string) Annotation( "http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string) "A physical urticaria induced by sweating. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000679"^^xsd:string) AnnotationAssertion( "ICD10CM:L50.5"^^xsd:string) AnnotationAssertion( "ICD9CM:708.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14443"^^xsd:string) AnnotationAssertion(rdfs:label "cholinergic urticaria"^^xsd:string) SubClassOf( ) # Class: (sclerosing keratitis) AnnotationAssertion(Annotation( "https://www.aao.org/eye-health/diseases/what-is-scleritis"^^xsd:string) "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.33"^^xsd:string) AnnotationAssertion( "ICD9CM:370.54"^^xsd:string) AnnotationAssertion( "sclerokeratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14444"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic closed-angle glaucoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma"^^xsd:string) "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.22"^^xsd:string) AnnotationAssertion( "ICD9CM:365.23"^^xsd:string) AnnotationAssertion( "anatomical narrow angle glaucoma"^^xsd:string) AnnotationAssertion( "chronic angle-closure glaucoma"^^xsd:string) AnnotationAssertion( "chronic narrow angle glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14445"^^xsd:string) AnnotationAssertion(rdfs:label "chronic closed-angle glaucoma"^^xsd:string) SubClassOf( ) # Class: (gonadal dysgenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gonadal_dysgenesis"^^xsd:string) "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600171"^^xsd:string) AnnotationAssertion( "GARD:2538"^^xsd:string) AnnotationAssertion( "ICD9CM:758.6"^^xsd:string) AnnotationAssertion( "MESH:D006059"^^xsd:string) AnnotationAssertion( "NCI:C61420"^^xsd:string) AnnotationAssertion( "gonadal agenesis"^^xsd:string) AnnotationAssertion( "gonadal dysgenesis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14447"^^xsd:string) AnnotationAssertion(rdfs:label "gonadal dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XY sex reversal) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms"^^xsd:string) "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006061"^^xsd:string) AnnotationAssertion( "MIM:PS400044"^^xsd:string) AnnotationAssertion( "NCI:C120198"^^xsd:string) AnnotationAssertion( "ORDO:242"^^xsd:string) AnnotationAssertion( "46 XY gonadal dysgenesis"^^xsd:string) AnnotationAssertion( "46, XY Gonadal Sex Reversal"^^xsd:string) AnnotationAssertion( "46,XY Complete Gonadal Dysgenesis"^^xsd:string) AnnotationAssertion( "46,XY DSD/46,XY CGD"^^xsd:string) AnnotationAssertion( "Pure Gonadal Dysgenesis 46,XY"^^xsd:string) AnnotationAssertion( "Swyer Syndrome"^^xsd:string) AnnotationAssertion( "XY pure gonadal dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14448"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY sex reversal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed gonadal dysgenesis) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html"^^xsd:string) "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006060"^^xsd:string) AnnotationAssertion( "NCI:C120199"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14449"^^xsd:string) AnnotationAssertion(rdfs:label "mixed gonadal dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46 XX gonadal dysgenesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243"^^xsd:string) "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004526"^^xsd:string) AnnotationAssertion( "MESH:D023961"^^xsd:string) AnnotationAssertion( "MIM:PS233300"^^xsd:string) AnnotationAssertion( "NCI:C120197"^^xsd:string) AnnotationAssertion( "ORDO:243"^^xsd:string) AnnotationAssertion( "Gonadal Dysgenesis, XX Type"^^xsd:string) AnnotationAssertion( "Ovarian Dysgenesis"^^xsd:string) AnnotationAssertion( "Pure Gonadal Dysgenesis, 46,XX"^^xsd:string) AnnotationAssertion( "XX Gonadal Dysgenesis"^^xsd:string) AnnotationAssertion( "XXGD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14450"^^xsd:string) AnnotationAssertion(rdfs:label "46 XX gonadal dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperkalemic periodic paralysis) AnnotationAssertion(Annotation( "MESH:D020513"^^xsd:string) "An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)"^^xsd:string) AnnotationAssertion( "MIM:170500"^^xsd:string) AnnotationAssertion( "RDO:0000513"^^xsd:string) AnnotationAssertion( "GARD:195"^^xsd:string) AnnotationAssertion( "ICD10CM:G72.3"^^xsd:string) AnnotationAssertion( "MESH:D020513"^^xsd:string) AnnotationAssertion( "NCI:C123429"^^xsd:string) AnnotationAssertion( "ORDO:682"^^xsd:string) AnnotationAssertion( "Adynamia Episodica Hereditaria"^^xsd:string) AnnotationAssertion( "Adynamia Episodica Hereditaria with or without Myotonia"^^xsd:string) AnnotationAssertion( "Familial Hyperkalemic Periodic Paralysis"^^xsd:string) AnnotationAssertion( "Gamstorp Disease"^^xsd:string) AnnotationAssertion( "Gamstorp Episodic Adynamy"^^xsd:string) AnnotationAssertion( "HYPERKALEMIC PERIODIC PARALYSIS TYPE 1"^^xsd:string) AnnotationAssertion( "HYPP"^^xsd:string) AnnotationAssertion( "HyperKPP"^^xsd:string) AnnotationAssertion( "HyperPP"^^xsd:string) AnnotationAssertion( "Hyperkalemic Periodic Paralysis Type 2"^^xsd:string) AnnotationAssertion( "Hyperkaliemic Periodic Paralysis Type 2"^^xsd:string) AnnotationAssertion( "Myotonic Periodic Paralysis"^^xsd:string) AnnotationAssertion( "Primary Hyperkalemic Periodic Paralysis"^^xsd:string) AnnotationAssertion( "Sodium Channel Muscle Disease"^^xsd:string) AnnotationAssertion( "GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE"^^xsd:string) AnnotationAssertion( "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14451"^^xsd:string) AnnotationAssertion(rdfs:label "hyperkalemic periodic paralysis"^^xsd:string) SubClassOf( ) # Class: (hypokalemic periodic paralysis) AnnotationAssertion(Annotation( "MESH:D020514"^^xsd:string) "An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)"^^xsd:string) AnnotationAssertion( "GARD:5557"^^xsd:string) AnnotationAssertion( "GARD:6729"^^xsd:string) AnnotationAssertion( "MESH:D020514"^^xsd:string) AnnotationAssertion( "NCI:C84775"^^xsd:string) AnnotationAssertion( "ORDO:681"^^xsd:string) AnnotationAssertion( "HOKPP"^^xsd:string) AnnotationAssertion( "HYPOKPP"^^xsd:string) AnnotationAssertion( "HYPOPP"^^xsd:string) AnnotationAssertion( "Periodic Paralysis- Hypokalemics"^^xsd:string) AnnotationAssertion( "Primary Hypokalemic Periodic Paralysis"^^xsd:string) AnnotationAssertion( "Westphall disease"^^xsd:string) AnnotationAssertion( "familial hypokalemic periodic paralysis"^^xsd:string) AnnotationAssertion( "familial periodic paralysis"^^xsd:string) AnnotationAssertion( "periodic paralysis I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14452"^^xsd:string) AnnotationAssertion(rdfs:label "hypokalemic periodic paralysis"^^xsd:string) SubClassOf( ) # Class: (farmer's lung) AnnotationAssertion(Annotation( "http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf"^^xsd:string) Annotation( "http://www.merriam-webster.com/dictionary/farmer%27s%20lung"^^xsd:string) "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6427"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.0"^^xsd:string) AnnotationAssertion( "ICD9CM:495.0"^^xsd:string) AnnotationAssertion( "MESH:D005203"^^xsd:string) AnnotationAssertion( "NCI:C34605"^^xsd:string) AnnotationAssertion( "farmer lung"^^xsd:string) AnnotationAssertion( "farmer's lungs"^^xsd:string) AnnotationAssertion( "farmers lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14453"^^xsd:string) AnnotationAssertion(rdfs:label "farmer's lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brucella melitensis brucellosis) AnnotationAssertion(Annotation( "http://www.bmj.com/cgi/reprint/1/5644/612.pdf"^^xsd:string) "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A23.0"^^xsd:string) AnnotationAssertion( "ICD9CM:023.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14456"^^xsd:string) AnnotationAssertion(rdfs:label "Brucella melitensis brucellosis"^^xsd:string) SubClassOf( ) # Class: (Brucella abortus brucellosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/10790142"^^xsd:string) "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A23.1"^^xsd:string) AnnotationAssertion( "ICD9CM:023.1"^^xsd:string) AnnotationAssertion( "MESH:D002007"^^xsd:string) AnnotationAssertion( "Bang disease"^^xsd:string) AnnotationAssertion( "Bang's disease"^^xsd:string) AnnotationAssertion( "Bangs disease"^^xsd:string) AnnotationAssertion( "bovine brucelloses"^^xsd:string) AnnotationAssertion( "bovine brucellosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14457"^^xsd:string) AnnotationAssertion(rdfs:label "Brucella abortus brucellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemangioma of orbit) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6245"^^xsd:string) AnnotationAssertion( "RDO:9004226"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6245"^^xsd:string) "angioma of the orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14459"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of orbit"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cavernous hemangioma of orbit) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4546"^^xsd:string) AnnotationAssertion( "cavernous angioma of orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14463"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous hemangioma of orbit"^^xsd:string) SubClassOf( ) # Class: (neuroleptic malignant syndrome) AnnotationAssertion(Annotation( "http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561"^^xsd:string) "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001379"^^xsd:string) AnnotationAssertion( "GARD:7195"^^xsd:string) AnnotationAssertion( "ICD10CM:G21.0"^^xsd:string) AnnotationAssertion( "ICD9CM:333.92"^^xsd:string) AnnotationAssertion( "MESH:D009459"^^xsd:string) AnnotationAssertion( "NCI:C94829"^^xsd:string) AnnotationAssertion( "ORDO:94093"^^xsd:string) AnnotationAssertion( "NMS (Neuroleptic Malignant Syndrome)"^^xsd:string) AnnotationAssertion( "Neuroleptic Induced Neuroleptic Malignant Syndrome"^^xsd:string) AnnotationAssertion( "Neuroleptic Malignant Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14464"^^xsd:string) AnnotationAssertion(rdfs:label "neuroleptic malignant syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hantavirus pulmonary syndrome) AnnotationAssertion(Annotation( "http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/10742726"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome"^^xsd:string) "A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007296"^^xsd:string) AnnotationAssertion( "GARD:69"^^xsd:string) AnnotationAssertion( "MESH:D018804"^^xsd:string) AnnotationAssertion( "NCI:C84747"^^xsd:string) AnnotationAssertion( "HARDS"^^xsd:string) AnnotationAssertion( "Hantavirus Associated Respiratory Distress Syndrome"^^xsd:string) AnnotationAssertion( "Hantavirus Pulmonary Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14472"^^xsd:string) AnnotationAssertion(rdfs:label "hantavirus pulmonary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pemphigoid gestationis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/"^^xsd:string) "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:O26.40"^^xsd:string) AnnotationAssertion( "MESH:D006559"^^xsd:string) AnnotationAssertion( "NCI:C85003"^^xsd:string) AnnotationAssertion( "gestational herpes"^^xsd:string) AnnotationAssertion( "gestational pemphigoid"^^xsd:string) AnnotationAssertion( "gestational pemphigoids"^^xsd:string) AnnotationAssertion( "herpes gestationis"^^xsd:string) AnnotationAssertion( "pemphigoid gestationi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14482"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigoid gestationis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chorea gravidarum) AnnotationAssertion(Annotation( "MESH:D020150"^^xsd:string) "A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)"^^xsd:string) AnnotationAssertion( "EFO:1001290"^^xsd:string) AnnotationAssertion( "MESH:D020150"^^xsd:string) AnnotationAssertion( "Pregnancy-Associated Choreoathetoses"^^xsd:string) AnnotationAssertion( "Pregnancy-Associated Choreoathetosis"^^xsd:string) AnnotationAssertion( "Pregnancy-Induced Chorea"^^xsd:string) AnnotationAssertion( "chorea gravidarums"^^xsd:string) AnnotationAssertion( "pregnancy-induced choreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14483"^^xsd:string) AnnotationAssertion(rdfs:label "chorea gravidarum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sporotrichosis) AnnotationAssertion(Annotation( "https://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm"^^xsd:string) "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007494"^^xsd:string) AnnotationAssertion( "GARD:7692"^^xsd:string) AnnotationAssertion( "ICD10CM:B42"^^xsd:string) AnnotationAssertion( "ICD9CM:117.1"^^xsd:string) AnnotationAssertion( "MESH:D013174"^^xsd:string) AnnotationAssertion( "sporotrichoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14484"^^xsd:string) AnnotationAssertion(rdfs:label "sporotrichosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureteral lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6175"^^xsd:string) AnnotationAssertion( "lymphoma of ureter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14489"^^xsd:string) AnnotationAssertion(rdfs:label "ureteral lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (regional ureteric cancer) AnnotationAssertion( "NCI:C8716"^^xsd:string) AnnotationAssertion( "NCI:C9356"^^xsd:string) AnnotationAssertion( "regional malignant ureteral tumor"^^xsd:string) AnnotationAssertion( "regional ureteric carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14491"^^xsd:string) AnnotationAssertion(rdfs:label "regional ureteric cancer"^^xsd:string) SubClassOf( ) # Class: (dumping syndrome) AnnotationAssertion(Annotation( "MESH:D004377"^^xsd:string) "Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus."^^xsd:string) AnnotationAssertion( "EFO:1001307"^^xsd:string) AnnotationAssertion( "ICD10CM:K91.1"^^xsd:string) AnnotationAssertion( "MESH:D004377"^^xsd:string) AnnotationAssertion( "NCI:C2994"^^xsd:string) AnnotationAssertion( "RDO:0005396"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:197128007"^^xsd:string) "Dumping (jejunal) syndrome"^^xsd:string) AnnotationAssertion( "Dumping Syndromes"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:564.2"^^xsd:string) "Jejunal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14495"^^xsd:string) AnnotationAssertion(rdfs:label "dumping syndrome"^^xsd:string) SubClassOf( ) # Class: (Wolman disease) AnnotationAssertion(Annotation( "MESH:D015223"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK395569/"^^xsd:string) "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:620151"^^xsd:string) AnnotationAssertion( "GARD:7899"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.5"^^xsd:string) AnnotationAssertion( "MESH:D015223"^^xsd:string) AnnotationAssertion( "NCI:C61271"^^xsd:string) AnnotationAssertion( "ORDO:75233"^^xsd:string) AnnotationAssertion( "LAL deficiency, complete"^^xsd:string) AnnotationAssertion( "LIPA deficiency, complete"^^xsd:string) AnnotationAssertion( "WOLD"^^xsd:string) AnnotationAssertion( "Wolman xanthomatosis"^^xsd:string) AnnotationAssertion( "Wolman's disease"^^xsd:string) AnnotationAssertion( "Wolman's or triglyceride storage type III disease"^^xsd:string) AnnotationAssertion( "Wolman's xanthomatosis"^^xsd:string) AnnotationAssertion( "Wolmans disease"^^xsd:string) AnnotationAssertion( "Wolmans xanthomatosis"^^xsd:string) AnnotationAssertion( "acid cholesteryl ester hydrolase deficiency, Wolman type"^^xsd:string) AnnotationAssertion( "acid esterase deficiency"^^xsd:string) AnnotationAssertion( "acid lipase deficiency"^^xsd:string) AnnotationAssertion( "acute infantile lysosomal acid lipase deficiency"^^xsd:string) AnnotationAssertion( "complete cholesterol ester hydrolase deficiency"^^xsd:string) AnnotationAssertion( "complete lysosomal acid lipase deficiency"^^xsd:string) AnnotationAssertion( "familial xanthomatoses"^^xsd:string) AnnotationAssertion( "familial xanthomatosis"^^xsd:string) AnnotationAssertion( "liposomal acid lipase deficiency, Wolman type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14497"^^xsd:string) AnnotationAssertion(rdfs:label "Wolman disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lipoid proteinosis) AnnotationAssertion(Annotation( "MESH:D008065"^^xsd:string) "An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN."^^xsd:string) AnnotationAssertion( "MIM:247100"^^xsd:string) AnnotationAssertion( "GARD:3268"^^xsd:string) AnnotationAssertion( "MESH:D008065"^^xsd:string) AnnotationAssertion( "NCI:C84829"^^xsd:string) AnnotationAssertion( "Lipoid Proteinosis of Urbach and Wiethe"^^xsd:string) AnnotationAssertion( "Lipoidproteinosis"^^xsd:string) AnnotationAssertion( "Lipoproteinosis"^^xsd:string) AnnotationAssertion( "Urbach Wiethe Disease"^^xsd:string) AnnotationAssertion( "Urbach-Wiethe lipoid proteinosis"^^xsd:string) AnnotationAssertion( "Urbach-Wiethe syndrome"^^xsd:string) AnnotationAssertion( "hyalinosis cutis et mucosae"^^xsd:string) AnnotationAssertion( "lipid proteinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14498"^^xsd:string) AnnotationAssertion(rdfs:label "lipoid proteinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fabry disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/fabry-disease"^^xsd:string) "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:301500"^^xsd:string) AnnotationAssertion( "GARD:6400"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.21"^^xsd:string) AnnotationAssertion( "MESH:D000795"^^xsd:string) AnnotationAssertion( "NCI:C84701"^^xsd:string) AnnotationAssertion( "Anderson-Fabry disease"^^xsd:string) AnnotationAssertion( "Fabry's disease"^^xsd:string) AnnotationAssertion( "GLA deficiency"^^xsd:string) AnnotationAssertion( "alpha galactosidase A deficiency"^^xsd:string) AnnotationAssertion( "alpha galactosidase A deficiency disease"^^xsd:string) AnnotationAssertion( "alpha galactosidase deficiency"^^xsd:string) AnnotationAssertion( "angiokeratoma corporis diffusum"^^xsd:string) AnnotationAssertion( "angiokeratoma diffuse"^^xsd:string) AnnotationAssertion( "ceramide trihexosidase deficiency"^^xsd:string) AnnotationAssertion( "deficiency of melibiase"^^xsd:string) AnnotationAssertion( "hereditary dystopic lipidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14499"^^xsd:string) AnnotationAssertion(rdfs:label "Fabry disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fucosidosis) AnnotationAssertion(Annotation( "MESH:D005645"^^xsd:string) "An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)"^^xsd:string) AnnotationAssertion( "MIM:230000"^^xsd:string) AnnotationAssertion( "OMIA:000396"^^xsd:string) AnnotationAssertion( "GARD:6473"^^xsd:string) AnnotationAssertion( "ICD10CM:E77.1"^^xsd:string) AnnotationAssertion( "MESH:D005645"^^xsd:string) AnnotationAssertion( "NCI:C61274"^^xsd:string) AnnotationAssertion( "A-fucosidase deficiency"^^xsd:string) AnnotationAssertion( "FUCA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Fucosidase Deficiency"^^xsd:string) AnnotationAssertion( "Fucosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Fucosidase Deficiency Diseases"^^xsd:string) AnnotationAssertion( "Fucosidosis, alpha"^^xsd:string) AnnotationAssertion( "alpha Fucosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "alpha L Fucosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "alpha-Fucosidase Deficiency Diseases"^^xsd:string) AnnotationAssertion( "alpha-L-Fucosidase Deficiency"^^xsd:string) AnnotationAssertion( "alpha-L-Fucosidase Deficiency Diseases"^^xsd:string) AnnotationAssertion( "alpha-fucosidase deficiency"^^xsd:string) AnnotationAssertion( "infantile fucosidosis"^^xsd:string) AnnotationAssertion( "juvenile fucosidosis"^^xsd:string) AnnotationAssertion( "fucosidosis type 1"^^xsd:string) AnnotationAssertion( "fucosidosis type I"^^xsd:string) AnnotationAssertion( "fucosidosis type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14500"^^xsd:string) AnnotationAssertion(rdfs:label "fucosidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sjogren-Larsson syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome"^^xsd:string) Annotation( "https://www.omim.org/entry/270200"^^xsd:string) "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:270200"^^xsd:string) AnnotationAssertion( "GARD:7654"^^xsd:string) AnnotationAssertion( "MESH:D016111"^^xsd:string) AnnotationAssertion( "NCI:C85070"^^xsd:string) AnnotationAssertion( "ORDO:816"^^xsd:string) AnnotationAssertion( "ALDH3A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FALDH deficiency"^^xsd:string) AnnotationAssertion( "Fatty Alcohol:NAD+ Oxidoreductase Deficiency"^^xsd:string) AnnotationAssertion( "Fatty Aldehyde Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "SLS"^^xsd:string) AnnotationAssertion( "Sjogren-Larsson's syndrome"^^xsd:string) AnnotationAssertion( "Sj�gren-Larsson syndrome"^^xsd:string) AnnotationAssertion( "congenital icthyosis, mental retardation, spasticity syndrome"^^xsd:string) AnnotationAssertion( "fatty acid alcohol oxidoreductase deficiency"^^xsd:string) AnnotationAssertion( "fatty aldehyde dehydrogenase deficiency disease"^^xsd:string) AnnotationAssertion( "ichthyosis oligophrenia syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis, spastic neurologic disorder, and oligophrenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14501"^^xsd:string) AnnotationAssertion(rdfs:label "Sjogren-Larsson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cholesterol ester storage disease) AnnotationAssertion(Annotation( "MESH:D015217"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK395569/"^^xsd:string) "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:278000"^^xsd:string) AnnotationAssertion( "GARD:12099"^^xsd:string) AnnotationAssertion( "MESH:D015217"^^xsd:string) AnnotationAssertion( "ORDO:75234"^^xsd:string) AnnotationAssertion( "cholesteryl ester storage disease"^^xsd:string) AnnotationAssertion( "partial LAL deficiency"^^xsd:string) AnnotationAssertion( "partial LIPA deficiency"^^xsd:string) AnnotationAssertion( "partial cholesterol ester hydrolase deficiency"^^xsd:string) AnnotationAssertion( "partial lysosomal acid lipase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14502"^^xsd:string) AnnotationAssertion(rdfs:label "cholesterol ester storage disease"^^xsd:string) SubClassOf( ) # Class: (neuronal ceroid lipofuscinosis) AnnotationAssertion(Annotation( "MESH:D009472"^^xsd:string) "A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure."^^xsd:string) AnnotationAssertion( "OMIA:001503"^^xsd:string) AnnotationAssertion( "OMIA:001552"^^xsd:string) AnnotationAssertion( "EFO:0003111"^^xsd:string) AnnotationAssertion( "EFO:0003112"^^xsd:string) AnnotationAssertion( "GARD:10739"^^xsd:string) AnnotationAssertion( "MESH:D009472"^^xsd:string) AnnotationAssertion( "MIM:PS256730"^^xsd:string) AnnotationAssertion( "MONDO:0015674"^^xsd:string) AnnotationAssertion( "MONDO:0016295"^^xsd:string) AnnotationAssertion( "NCI:C61257"^^xsd:string) AnnotationAssertion( "ORDO:216"^^xsd:string) AnnotationAssertion( "ORDO:79262"^^xsd:string) AnnotationAssertion( "Batten Mayou Disease"^^xsd:string) AnnotationAssertion( "Ceroid Storage Disease"^^xsd:string) AnnotationAssertion( "Ceroid Storage Diseases"^^xsd:string) AnnotationAssertion( "Jansky Bielschowsky Disease"^^xsd:string) AnnotationAssertion( "Kuf Disease"^^xsd:string) AnnotationAssertion( "Kuf's Diseases"^^xsd:string) AnnotationAssertion( "Kuf's disease"^^xsd:string) AnnotationAssertion( "Kufs Disease Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Kufs Type Neuronal Ceroid Lipofuscinosis"^^xsd:string) AnnotationAssertion( "Kufs disease"^^xsd:string) AnnotationAssertion( "Lipofuscin Storage Disease"^^xsd:string) AnnotationAssertion( "hereditary ceroid lipofuscinosis"^^xsd:string) AnnotationAssertion( "lipofuscin storage diseases"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinoses"^^xsd:string) AnnotationAssertion( "Infantile Neuronal Ceroid Lipofuscinosis"^^xsd:string) AnnotationAssertion( "Juvenile Cerebroretinal Degeneration"^^xsd:string) AnnotationAssertion( "Juvenile Cerebroretinal Degenerations"^^xsd:string) AnnotationAssertion( "Late-Infantile Neuronal Ceroid Lipofuscinosis"^^xsd:string) AnnotationAssertion( "adult neuronal ceroid lipofuscinosis"^^xsd:string) AnnotationAssertion( "amaurotic idiocy, adult type"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, 12"^^xsd:string) AnnotationAssertion( "neuronal ceroid lipofuscinosis, adult type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14503"^^xsd:string) AnnotationAssertion(rdfs:label "neuronal ceroid lipofuscinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Niemann-Pick disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Niemann-Pick_disease"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease"^^xsd:string) "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001380"^^xsd:string) AnnotationAssertion( "GARD:13334"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.24"^^xsd:string) AnnotationAssertion( "MESH:D009542"^^xsd:string) AnnotationAssertion( "NCI:C61269"^^xsd:string) AnnotationAssertion( "Niemann Pick diseases"^^xsd:string) AnnotationAssertion( "lipoid histiocytosis"^^xsd:string) AnnotationAssertion( "sphingomyelin lipidosis"^^xsd:string) AnnotationAssertion( "sphingomyelinase deficiencies"^^xsd:string) AnnotationAssertion( "sphingomyelinase deficiency"^^xsd:string) AnnotationAssertion( "sphingomyelinase deficiency disease"^^xsd:string) AnnotationAssertion( "ACID SPHINGOMYELINASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14504"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral degeneration of cornea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.46"^^xsd:string) AnnotationAssertion( "ICD9CM:371.48"^^xsd:string) AnnotationAssertion( "peripheral degenerations of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14507"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral degeneration of cornea"^^xsd:string) SubClassOf( ) # Class: (candidal paronychia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/"^^xsd:string) "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B37.2"^^xsd:string) AnnotationAssertion( "ICD9CM:112.3"^^xsd:string) AnnotationAssertion( "candidiasis of skin"^^xsd:string) AnnotationAssertion( "candidiasis of skin and nails"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14512"^^xsd:string) AnnotationAssertion(rdfs:label "candidal paronychia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (WAGR syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/WAGR_syndrome"^^xsd:string) "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5528"^^xsd:string) AnnotationAssertion( "MESH:D017624"^^xsd:string) AnnotationAssertion( "MIM:194072"^^xsd:string) AnnotationAssertion( "MONDO:0008681"^^xsd:string) AnnotationAssertion( "NCI:C3718"^^xsd:string) AnnotationAssertion( "11p partial monosomy syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 11p13 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "WAGR"^^xsd:string) AnnotationAssertion( "WAGR Complex"^^xsd:string) AnnotationAssertion( "WAGR Contiguous Gene Syndrome"^^xsd:string) AnnotationAssertion( "WAGR Syndromes"^^xsd:string) AnnotationAssertion( "WAGR complices"^^xsd:string) AnnotationAssertion( "Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome"^^xsd:string) AnnotationAssertion( "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "Wilms tumor-aniridia-genitourinary anomalies-MR syndrome"^^xsd:string) AnnotationAssertion( "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14515"^^xsd:string) AnnotationAssertion(rdfs:label "WAGR syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (partial arterial retinal occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34.21"^^xsd:string) AnnotationAssertion( "ICD9CM:362.33"^^xsd:string) AnnotationAssertion( "NCI:C35192"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14522"^^xsd:string) AnnotationAssertion(rdfs:label "partial arterial retinal occlusion"^^xsd:string) SubClassOf( ) # Class: (Argyll Robertson pupil) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10863169"^^xsd:string) "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H57.01"^^xsd:string) AnnotationAssertion( "ICD9CM:379.45"^^xsd:string) AnnotationAssertion( "Argyll Robertson phenomenon or pupil, nonsyphilitic"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:21011008"^^xsd:string) "Atypical Argyll-Robertson pupil"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14523"^^xsd:string) AnnotationAssertion(rdfs:label "Argyll Robertson pupil"^^xsd:string) SubClassOf( ) # Class: (senile degeneration of brain) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:331.2"^^xsd:string) AnnotationAssertion( "senile brain degen."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14524"^^xsd:string) AnnotationAssertion(rdfs:label "senile degeneration of brain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reye syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Reye_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2680560"^^xsd:string) "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007467"^^xsd:string) AnnotationAssertion( "GARD:7570"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.7"^^xsd:string) AnnotationAssertion( "ICD9CM:331.81"^^xsd:string) AnnotationAssertion( "MESH:D012202"^^xsd:string) AnnotationAssertion( "NCI:C34983"^^xsd:string) AnnotationAssertion( "Adult Reye Syndrome"^^xsd:string) AnnotationAssertion( "Fatty Liver with Encephalopathy"^^xsd:string) AnnotationAssertion( "Reye Johnson Syndrome"^^xsd:string) AnnotationAssertion( "Reye Like Syndrome"^^xsd:string) AnnotationAssertion( "Reye's Like Syndrome"^^xsd:string) AnnotationAssertion( "Reye's syndrome"^^xsd:string) AnnotationAssertion( "adult Reye's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14525"^^xsd:string) AnnotationAssertion(rdfs:label "Reye syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (external pathological resorption) AnnotationAssertion( "ICD10CM:K03.3"^^xsd:string) AnnotationAssertion( "ICD9CM:521.42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14529"^^xsd:string) AnnotationAssertion(rdfs:label "external pathological resorption"^^xsd:string) SubClassOf( ) # Class: (atrophic glossitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K14.4"^^xsd:string) AnnotationAssertion( "ICD9CM:529.4"^^xsd:string) AnnotationAssertion( "Hunter's glossitis"^^xsd:string) AnnotationAssertion( "atrophy of tongue papillae"^^xsd:string) AnnotationAssertion( "smooth atrophic tongue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1453"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic glossitis"^^xsd:string) SubClassOf( ) # Class: (malignant cardiac peripheral nerve sheath neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5367"^^xsd:string) AnnotationAssertion( "MPNST of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14534"^^xsd:string) AnnotationAssertion(rdfs:label "malignant cardiac peripheral nerve sheath neoplasm"^^xsd:string) SubClassOf( ) # Class: (malignant cardiac germ cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5371"^^xsd:string) AnnotationAssertion( "RDO:9004976"^^xsd:string) AnnotationAssertion( "malignant cardiac germ cell tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5371"^^xsd:string) "malignant germ cell tumor of the Heart"^^xsd:string) AnnotationAssertion( "malignant germ cell tumour of the Heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14535"^^xsd:string) AnnotationAssertion(rdfs:label "malignant cardiac germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (rete testis adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A rete testis neoplasm that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8955"^^xsd:string) AnnotationAssertion( "RDO:9002486"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8955"^^xsd:string) "adenocarcinoma of the rete testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of rete testis"^^xsd:string) AnnotationAssertion( "DOID:14544"^^xsd:string) AnnotationAssertion(rdfs:label "rete testis adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seminal vesicle adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A male reproductive organ cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39906"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14545"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sphenoidal sinus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C31.3"^^xsd:string) AnnotationAssertion( "ICD9CM:160.5"^^xsd:string) AnnotationAssertion( "NCI:C3543"^^xsd:string) AnnotationAssertion( "RDO:9002352"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3543"^^xsd:string) "malignant tumor of Sphenoidal sinus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363428005"^^xsd:string) "malignant tumor of sphenoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14546"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoidal sinus cancer"^^xsd:string) SubClassOf( ) # Class: (sphenoid sinus squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25748513"^^xsd:string) "A squamous cell carcinoma that is located_in the sphenoid sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6066"^^xsd:string) AnnotationAssertion( "RDO:9002353"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the Sphenoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14547"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoid sinus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (steroid-induced glaucoma - borderline) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.03"^^xsd:string) AnnotationAssertion( "borderline glaucoma steroid responder"^^xsd:string) AnnotationAssertion( "steroid responders borderline glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14548"^^xsd:string) AnnotationAssertion(rdfs:label "steroid-induced glaucoma - borderline"^^xsd:string) SubClassOf( ) # Class: (geographic tongue) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Geographic_tongue"^^xsd:string) "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137400"^^xsd:string) AnnotationAssertion( "EFO:0007283"^^xsd:string) AnnotationAssertion( "GARD:6493"^^xsd:string) AnnotationAssertion( "ICD10CM:K14.1"^^xsd:string) AnnotationAssertion( "ICD9CM:529.1"^^xsd:string) AnnotationAssertion( "MESH:D005929"^^xsd:string) AnnotationAssertion( "NCI:C84588"^^xsd:string) AnnotationAssertion( "Glossitis Areata Exfoliativa"^^xsd:string) AnnotationAssertion( "Lingua Erythema Migran"^^xsd:string) AnnotationAssertion( "Lingua Erythema Migrans"^^xsd:string) AnnotationAssertion( "benign migratory glossitis"^^xsd:string) AnnotationAssertion( "lingual erythema migrans"^^xsd:string) AnnotationAssertion( "pityriasis linguae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1455"^^xsd:string) AnnotationAssertion(rdfs:label "geographic tongue"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (root resorption) AnnotationAssertion(Annotation( "MESH:D012391"^^xsd:string) "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "RDO:0006507"^^xsd:string) AnnotationAssertion( "MESH:D012391"^^xsd:string) AnnotationAssertion( "Root Resorptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14550"^^xsd:string) AnnotationAssertion(rdfs:label "root resorption"^^xsd:string) SubClassOf( ) # Class: (Foster-Kennedy syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001330"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.14"^^xsd:string) AnnotationAssertion( "ICD9CM:377.04"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14555"^^xsd:string) AnnotationAssertion(rdfs:label "Foster-Kennedy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary pulmonary hypertension) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pulmonary_hypertension"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension"^^xsd:string) "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I27.0"^^xsd:string) AnnotationAssertion( "ICD9CM:416.0"^^xsd:string) AnnotationAssertion( "MESH:D065627"^^xsd:string) AnnotationAssertion( "MIM:PS178600"^^xsd:string) AnnotationAssertion( "NCI:C121945"^^xsd:string) AnnotationAssertion( "NCI:C97119"^^xsd:string) AnnotationAssertion( "ORDO:422"^^xsd:string) AnnotationAssertion( "IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION"^^xsd:string) AnnotationAssertion( "Idiopathic Pulmonary Arterial Hypertension"^^xsd:string) AnnotationAssertion( "familial primary pulmonary hypertension"^^xsd:string) AnnotationAssertion( "heritable pulmonary arterial hypertension"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary hypertension"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary hypertensions"^^xsd:string) AnnotationAssertion( "primary pulmonary hypertensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "primary pulmonary hypertension, dexfenfluramine-associated"^^xsd:string) AnnotationAssertion( "primary pulmonary hypertension, fenfluramine-associated"^^xsd:string) AnnotationAssertion( "DOID:14557"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anaerobic meningitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:320.81"^^xsd:string) AnnotationAssertion( "RDO:9002394"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14559"^^xsd:string) AnnotationAssertion(rdfs:label "anaerobic meningitis"^^xsd:string) SubClassOf( ) # Class: (glossitis) AnnotationAssertion(Annotation( "MESH:D005928"^^xsd:string) "Inflammation of the tongue."^^xsd:string) AnnotationAssertion( "EFO:1000951"^^xsd:string) AnnotationAssertion( "ICD10CM:K14.0"^^xsd:string) AnnotationAssertion( "ICD9CM:529.0"^^xsd:string) AnnotationAssertion( "MESH:D005928"^^xsd:string) AnnotationAssertion( "NCI:C112199"^^xsd:string) AnnotationAssertion( "Glossitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1456"^^xsd:string) AnnotationAssertion(rdfs:label "glossitis"^^xsd:string) SubClassOf( ) # Class: (disease of cellular proliferation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/w/index.php?title=Cell_proliferation"^^xsd:string) "A disease that is characterized by abnormally rapid cell division. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000616"^^xsd:string) AnnotationAssertion( "EFO:0000728"^^xsd:string) AnnotationAssertion( "MESH:D009369"^^xsd:string) AnnotationAssertion( "NCI:C134526"^^xsd:string) AnnotationAssertion( "NCI:C134942"^^xsd:string) AnnotationAssertion( "NCI:C23988"^^xsd:string) AnnotationAssertion( "NCI:C3262"^^xsd:string) AnnotationAssertion( "NCI:C3263"^^xsd:string) AnnotationAssertion( "cell process disease"^^xsd:string) AnnotationAssertion( "malignancies"^^xsd:string) AnnotationAssertion( "malignancy"^^xsd:string) AnnotationAssertion( "neoplasia"^^xsd:string) AnnotationAssertion( "neoplasias"^^xsd:string) AnnotationAssertion( "neoplasm"^^xsd:string) AnnotationAssertion( "neoplasms"^^xsd:string) AnnotationAssertion( "neoplastic disease"^^xsd:string) AnnotationAssertion( "neoplastic growth"^^xsd:string) AnnotationAssertion( "tumor"^^xsd:string) AnnotationAssertion( "tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "CODON 72 POLYMORPHISM, (rs1042522)"^^xsd:string) AnnotationAssertion( "cancer of multiple types, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:14566"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "disease of cellular proliferation"^^xsd:string) SubClassOf( ) # Class: (postsurgical hypothyroidism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E89.0"^^xsd:string) AnnotationAssertion( "ICD9CM:244.0"^^xsd:string) AnnotationAssertion( "post-surgical hypothyroidism"^^xsd:string) AnnotationAssertion( "postoperative hypothyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1458"^^xsd:string) AnnotationAssertion(rdfs:label "postsurgical hypothyroidism"^^xsd:string) SubClassOf( ) # Class: (hypothyroidism) AnnotationAssertion(Annotation( "https://medlineplus.gov/hypothyroidism.html"^^xsd:string) "A thyroid gland disease which involves an underproduction of thyroid hormone. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000536"^^xsd:string) AnnotationAssertion( "EFO:0004705"^^xsd:string) AnnotationAssertion( "ICD10CM:E03.9"^^xsd:string) AnnotationAssertion( "ICD9CM:244.9"^^xsd:string) AnnotationAssertion( "MESH:D007037"^^xsd:string) AnnotationAssertion( "NCI:C26800"^^xsd:string) AnnotationAssertion( "TSH Deficiencies"^^xsd:string) AnnotationAssertion( "TSH deficiency"^^xsd:string) AnnotationAssertion( "Thyroid Stimulating Hormone Deficiency"^^xsd:string) AnnotationAssertion( "Thyroid-Stimulating Hormone Deficiencies"^^xsd:string) AnnotationAssertion( "hypothyroidisms"^^xsd:string) AnnotationAssertion( "thyroid deficiency"^^xsd:string) AnnotationAssertion( "thyroid insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1459"^^xsd:string) AnnotationAssertion(rdfs:label "hypothyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papilledema) AnnotationAssertion(Annotation( "MESH:D010211"^^xsd:string) "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)"^^xsd:string) AnnotationAssertion( "GARD:7318"^^xsd:string) AnnotationAssertion( "MESH:D010211"^^xsd:string) AnnotationAssertion( "NCI:C3307"^^xsd:string) AnnotationAssertion( "choked disk"^^xsd:string) AnnotationAssertion( "decreased intracranial pressure associated papilledema"^^xsd:string) AnnotationAssertion( "edema of the optic disc"^^xsd:string) AnnotationAssertion( "increased intracranial pressure associated papilledema"^^xsd:string) AnnotationAssertion( "optic disc swelling"^^xsd:string) AnnotationAssertion( "optic disk edema"^^xsd:string) AnnotationAssertion( "optic nerve papillitis"^^xsd:string) AnnotationAssertion( "optic papilla edema"^^xsd:string) AnnotationAssertion( "papilledema associated with decreased intraocular pressure"^^xsd:string) AnnotationAssertion( "papilledema associated with increased intracranial pressure"^^xsd:string) AnnotationAssertion( "papilloedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:146"^^xsd:string) AnnotationAssertion(rdfs:label "papilledema"^^xsd:string) SubClassOf( ) # Class: (atheroembolism of kidney) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1460"^^xsd:string) AnnotationAssertion(rdfs:label "atheroembolism of kidney"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholesterol embolism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cholesterol_embolism"^^xsd:string) "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005801"^^xsd:string) AnnotationAssertion( "ICD10CM:I75"^^xsd:string) AnnotationAssertion( "ICD9CM:445"^^xsd:string) AnnotationAssertion( "MESH:D017700"^^xsd:string) AnnotationAssertion( "Atheroembolism"^^xsd:string) AnnotationAssertion( "atheroembolisms"^^xsd:string) AnnotationAssertion( "cholesterol crystal embolism"^^xsd:string) AnnotationAssertion( "cholesterol embolisms"^^xsd:string) AnnotationAssertion( "purple toe syndrome"^^xsd:string) AnnotationAssertion( "trash foot"^^xsd:string) AnnotationAssertion( "warfarin blue toe syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1461"^^xsd:string) AnnotationAssertion(rdfs:label "cholesterol embolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostatitis) AnnotationAssertion(Annotation( "MESH:D011472"^^xsd:string) "Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment."^^xsd:string) AnnotationAssertion( "EFO:0003830"^^xsd:string) AnnotationAssertion( "ICD10CM:N41"^^xsd:string) AnnotationAssertion( "ICD10CM:N41.9"^^xsd:string) AnnotationAssertion( "ICD9CM:601.9"^^xsd:string) AnnotationAssertion( "MESH:D011472"^^xsd:string) AnnotationAssertion( "NCI:C26866"^^xsd:string) AnnotationAssertion( "Acute Bacterial Prostatitis"^^xsd:string) AnnotationAssertion( "Asymptomatic Inflammatory Prostatitides"^^xsd:string) AnnotationAssertion( "Asymptomatic Inflammatory Prostatitis"^^xsd:string) AnnotationAssertion( "Chronic Bacterial Prostatitides"^^xsd:string) AnnotationAssertion( "Chronic Bacterial Prostatitis"^^xsd:string) AnnotationAssertion( "Chronic Prostatitis with Chronic Pelvic Pain Syndrome"^^xsd:string) AnnotationAssertion( "acute bacterial prostatitides"^^xsd:string) AnnotationAssertion( "prostatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14654"^^xsd:string) AnnotationAssertion(rdfs:label "prostatitis"^^xsd:string) SubClassOf( ) # Class: (acrodysostosis) AnnotationAssertion(Annotation( "http://children.webmd.com/acrodysostosis"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Acrodysostosis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm"^^xsd:string) "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. (DO)"^^xsd:string) AnnotationAssertion( "MIM:170700"^^xsd:string) AnnotationAssertion( "GARD:2015"^^xsd:string) AnnotationAssertion( "GARD:5724"^^xsd:string) AnnotationAssertion( "MESH:C538179"^^xsd:string) AnnotationAssertion( "MIM:PS101800"^^xsd:string) AnnotationAssertion( "ORDO:950"^^xsd:string) AnnotationAssertion( "Arkless-Graham syndrome"^^xsd:string) AnnotationAssertion( "Maroteaux-Malamut syndrome"^^xsd:string) AnnotationAssertion( "acrodysplasia"^^xsd:string) AnnotationAssertion( "nasal hypoplasia-peripheral dysostosis-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "peripheral dysostosis"^^xsd:string) AnnotationAssertion( "peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14669"^^xsd:string) AnnotationAssertion(rdfs:label "acrodysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (serous labyrinthitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false"^^xsd:string) "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.31"^^xsd:string) AnnotationAssertion( "MONDO:0002006"^^xsd:string) AnnotationAssertion( "acute serous labyrinthitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1467"^^xsd:string) AnnotationAssertion(rdfs:label "serous labyrinthitis"^^xsd:string) SubClassOf( ) # Class: (hypertelorism, microtia, facial clefting syndrome) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11152141"^^xsd:string) "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:239800"^^xsd:string) AnnotationAssertion( "MESH:C537632"^^xsd:string) AnnotationAssertion( "ORDO:2213"^^xsd:string) AnnotationAssertion( "Bixler Christian Gorlin syndrome"^^xsd:string) AnnotationAssertion( "Bixler syndrome"^^xsd:string) AnnotationAssertion( "HMC syndrome"^^xsd:string) AnnotationAssertion( "hypertelorism-microtia-clefting syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14670"^^xsd:string) AnnotationAssertion(rdfs:label "hypertelorism, microtia, facial clefting syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple intestinal atresia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23423984"^^xsd:string) "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243150"^^xsd:string) AnnotationAssertion( "GARD:3013"^^xsd:string) AnnotationAssertion( "MEDDRA:10028210"^^xsd:string) AnnotationAssertion( "MESH:C562441"^^xsd:string) AnnotationAssertion( "ORDO:2300"^^xsd:string) AnnotationAssertion( "FIPA"^^xsd:string) AnnotationAssertion( "GIDID"^^xsd:string) AnnotationAssertion( "GIDID1"^^xsd:string) AnnotationAssertion( "MINAT"^^xsd:string) AnnotationAssertion( "familial intestinal polyatresia syndrome"^^xsd:string) AnnotationAssertion( "gastrointestinal defects and immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "gastrointestinal defects and immunodeficiency syndrome 1"^^xsd:string) AnnotationAssertion( "multiple gastrointestinal atresias"^^xsd:string) AnnotationAssertion( "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14671"^^xsd:string) AnnotationAssertion(rdfs:label "multiple intestinal atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (VACTERL association) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/VACTERL_association"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/vacterl-association"^^xsd:string) Annotation( "http://www.cincinnatichildrens.org/health/v/vacterl/"^^xsd:string) "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:192350"^^xsd:string) AnnotationAssertion( "GARD:5443"^^xsd:string) AnnotationAssertion( "MESH:C536495"^^xsd:string) AnnotationAssertion( "MESH:C536534"^^xsd:string) AnnotationAssertion( "NCI:C99105"^^xsd:string) AnnotationAssertion( "VACTEL association"^^xsd:string) AnnotationAssertion( "VACTERL Syndrome"^^xsd:string) AnnotationAssertion( "VACTERL/VATER association"^^xsd:string) AnnotationAssertion( "VATER Association"^^xsd:string) AnnotationAssertion( "Vertebral Anal Tracheoesophageal Esophageal Radial anomalies"^^xsd:string) AnnotationAssertion( "vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VATER syndrome"^^xsd:string) AnnotationAssertion( "DOID:14679"^^xsd:string) AnnotationAssertion(rdfs:label "VACTERL association"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (labyrinthitis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS"^^xsd:string) "An otitis interna which involves inflammation of the labyrinths. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009604"^^xsd:string) AnnotationAssertion( "ICD10CM:H83.0"^^xsd:string) AnnotationAssertion( "ICD9CM:386.3"^^xsd:string) AnnotationAssertion( "MESH:D007762"^^xsd:string) AnnotationAssertion( "labyrinthitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1468"^^xsd:string) AnnotationAssertion(rdfs:label "labyrinthitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Silver-Russell syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/russell-silver-syndrome"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/russell-silver-syndrome/"^^xsd:string) "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4870"^^xsd:string) AnnotationAssertion( "MESH:D056730"^^xsd:string) AnnotationAssertion( "MIM:PS180860"^^xsd:string) AnnotationAssertion( "NCI:C85068"^^xsd:string) AnnotationAssertion( "RSS"^^xsd:string) AnnotationAssertion( "SRS"^^xsd:string) AnnotationAssertion( "Silver Russell dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14681"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Binder syndrome) AnnotationAssertion( "MIM:155050"^^xsd:string) AnnotationAssertion( "GARD:6992"^^xsd:string) AnnotationAssertion( "MESH:C536036"^^xsd:string) AnnotationAssertion( "maxillonasal dysplasia, Binder type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14683"^^xsd:string) AnnotationAssertion(rdfs:label "Binder syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Axenfeld-Rieger syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Axenfeld_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome"^^xsd:string) "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5701"^^xsd:string) AnnotationAssertion( "ICD10CM:Q13.81"^^xsd:string) AnnotationAssertion( "MESH:C535679"^^xsd:string) AnnotationAssertion( "MIM:PS180500"^^xsd:string) AnnotationAssertion( "NCI:C131001"^^xsd:string) AnnotationAssertion( "ORDO:782"^^xsd:string) AnnotationAssertion( "Axenfeld anomaly"^^xsd:string) AnnotationAssertion( "Axenfeld syndrome"^^xsd:string) AnnotationAssertion( "Axenfeld-Rieger anomaly"^^xsd:string) AnnotationAssertion( "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:204154009"^^xsd:string) "RGS - Rieger syndrome"^^xsd:string) AnnotationAssertion( "Rieger anomaly"^^xsd:string) AnnotationAssertion( "Rieger syndrome"^^xsd:string) AnnotationAssertion( "Rieger's anomaly"^^xsd:string) AnnotationAssertion( "iridogoniodysgenesis with somatic anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hagedoom syndrome"^^xsd:string) AnnotationAssertion( "DOID:14686"^^xsd:string) AnnotationAssertion(rdfs:label "Axenfeld-Rieger syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diastrophic dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diastrophic_dysplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK22219/"^^xsd:string) "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222600"^^xsd:string) AnnotationAssertion( "RDO:0001640"^^xsd:string) AnnotationAssertion( "GARD:6275"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.5"^^xsd:string) AnnotationAssertion( "MESH:C536170"^^xsd:string) AnnotationAssertion( "NCI:C156311"^^xsd:string) AnnotationAssertion( "DTD"^^xsd:string) AnnotationAssertion( "Diastrophic dwarfism"^^xsd:string) AnnotationAssertion( "SULFATE TRANSPORTER-RELATED OSTEOCHONDRODYSPLASIA"^^xsd:string) AnnotationAssertion( "DD DIASTROPHIC DYSPLASIA, BONE-PLATYSPONDYLIC VARIANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14687"^^xsd:string) AnnotationAssertion(rdfs:label "diastrophic dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Smith-Lemli-Opitz syndrome) AnnotationAssertion(Annotation( "MESH:D019082"^^xsd:string) "An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY."^^xsd:string) AnnotationAssertion( "MIM:270400"^^xsd:string) AnnotationAssertion( "GARD:5683"^^xsd:string) AnnotationAssertion( "ICD10CM:E78.72"^^xsd:string) AnnotationAssertion( "MESH:D019082"^^xsd:string) AnnotationAssertion( "NCI:C85071"^^xsd:string) AnnotationAssertion( "RDO:0007255"^^xsd:string) AnnotationAssertion( "7-Dehydrocholesterol Reductase Deficiencies"^^xsd:string) AnnotationAssertion( "7-Dehydrocholesterol Reductase Deficiency"^^xsd:string) AnnotationAssertion( "Hyperotosis Corticalis Generalisata Familiaris"^^xsd:string) AnnotationAssertion( "Lethal Acrodysgenital Syndrome"^^xsd:string) AnnotationAssertion( "Lethal Acrodysgenital Syndromes"^^xsd:string) AnnotationAssertion( "Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung"^^xsd:string) AnnotationAssertion( "RSH SLO Syndrome"^^xsd:string) AnnotationAssertion( "RSH Syndrome"^^xsd:string) AnnotationAssertion( "RSH Syndromes"^^xsd:string) AnnotationAssertion( "RSH-SLO Syndromes"^^xsd:string) AnnotationAssertion( "Rutledge Friedman Harrod Syndrome"^^xsd:string) AnnotationAssertion( "Rutledge Lethal Multiple Congenital Anomaly Syndrome"^^xsd:string) AnnotationAssertion( "SLO Syndrome"^^xsd:string) AnnotationAssertion( "SLO Syndromes"^^xsd:string) AnnotationAssertion( "SLOS"^^xsd:string) AnnotationAssertion( "Smith Lemli Opitz Syndrome, Type 2"^^xsd:string) AnnotationAssertion( "Smith Lemli Opitz Syndrome, Type I"^^xsd:string) AnnotationAssertion( "Smith Lemli Opitz Syndrome, Type II"^^xsd:string) AnnotationAssertion( "Smith Lemli Opitz syndrome, type 1"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:5002-0023"^^xsd:string) "Smith-Opitz-Inborn syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14692"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-Lemli-Opitz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Clouston syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8845850/"^^xsd:string) "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2056"^^xsd:string) AnnotationAssertion( "MIM:129500"^^xsd:string) AnnotationAssertion( "Clouston Hidrotic Ectodermal Dysplasia"^^xsd:string) AnnotationAssertion( "Clouston's hidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "Clouston's syndrome"^^xsd:string) AnnotationAssertion( "Cloustons syndrome"^^xsd:string) AnnotationAssertion( "ECTD2"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE"^^xsd:string) AnnotationAssertion( "HED2"^^xsd:string) AnnotationAssertion( "autosomal dominant hidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "hidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "hidrotic ectodermal dysplasia 2"^^xsd:string) AnnotationAssertion( "hidrotic ectodermal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14693"^^xsd:string) AnnotationAssertion(rdfs:label "Clouston syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Johanson-Blizzard syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome"^^xsd:string) "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243800"^^xsd:string) AnnotationAssertion( "GARD:80"^^xsd:string) AnnotationAssertion( "MESH:C535880"^^xsd:string) AnnotationAssertion( "ORDO:2315"^^xsd:string) AnnotationAssertion( "JBS"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia-exocrine pancreatic insufficiency"^^xsd:string) AnnotationAssertion( "malabsorption-ectodermal dysplasia-nasal alar hypoplasia"^^xsd:string) AnnotationAssertion( "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness"^^xsd:string) AnnotationAssertion( "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14694"^^xsd:string) AnnotationAssertion(rdfs:label "Johanson-Blizzard syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (galactokinase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Galactokinase_deficiency"^^xsd:string) "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2422"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.29"^^xsd:string) AnnotationAssertion( "MIM:230200"^^xsd:string) AnnotationAssertion( "NCI:C114767"^^xsd:string) AnnotationAssertion( "ORDO:79237"^^xsd:string) AnnotationAssertion( "GALAC2"^^xsd:string) AnnotationAssertion( "GALK deficiencies"^^xsd:string) AnnotationAssertion( "GALK deficiency"^^xsd:string) AnnotationAssertion( "GALK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "deficiency of galactokinase"^^xsd:string) AnnotationAssertion( "galactokinase deficiencies"^^xsd:string) AnnotationAssertion( "galactokinase deficiency disease"^^xsd:string) AnnotationAssertion( "galactokinase deficiency diseases"^^xsd:string) AnnotationAssertion( "galactokinase deficiency with cataracts"^^xsd:string) AnnotationAssertion( "galactosemia 2"^^xsd:string) AnnotationAssertion( "galactosemia II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14695"^^xsd:string) AnnotationAssertion(rdfs:label "galactokinase deficiency"^^xsd:string) SubClassOf( ) # Class: (thrombocytopenia-absent radius syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK23758/"^^xsd:string) "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. (DO)"^^xsd:string) AnnotationAssertion( "MIM:274000"^^xsd:string) AnnotationAssertion( "MESH:C536940"^^xsd:string) AnnotationAssertion( "NCI:C99038"^^xsd:string) AnnotationAssertion( "ORDO:3320"^^xsd:string) AnnotationAssertion( "TAR"^^xsd:string) AnnotationAssertion( "TAR syndrome"^^xsd:string) AnnotationAssertion( "absent radii and thrombocytopenia"^^xsd:string) AnnotationAssertion( "chromosome 1q21.1 deletion syndrome, 200-Kb"^^xsd:string) AnnotationAssertion( "radial aplasia-amegakaryocytic thrombocytopenia"^^xsd:string) AnnotationAssertion( "radial aplasia-thrombocytopenia syndrome"^^xsd:string) AnnotationAssertion( "thrombocytopenia absent radii"^^xsd:string) AnnotationAssertion( "thrombocytopenia with absent radii (TAR) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14699"^^xsd:string) AnnotationAssertion(rdfs:label "thrombocytopenia-absent radius syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (major depressive disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Major_depressive_disorder"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/30333763"^^xsd:string) "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608516"^^xsd:string) AnnotationAssertion( "EFO:0003761"^^xsd:string) AnnotationAssertion( "EFO:0006860"^^xsd:string) AnnotationAssertion( "EFO:0007634"^^xsd:string) AnnotationAssertion( "ICD10CM:F32"^^xsd:string) AnnotationAssertion( "ICD10CM:F33.9"^^xsd:string) AnnotationAssertion( "ICD9CM:296.2"^^xsd:string) AnnotationAssertion( "ICD9CM:296.3"^^xsd:string) AnnotationAssertion( "MESH:D003865"^^xsd:string) AnnotationAssertion( "MONDO:0002009"^^xsd:string) AnnotationAssertion( "NCI:C34796"^^xsd:string) AnnotationAssertion( "Involutional Depression"^^xsd:string) AnnotationAssertion( "Involutional Melancholia"^^xsd:string) AnnotationAssertion( "Involutional Paraphrenia"^^xsd:string) AnnotationAssertion( "MDD"^^xsd:string) AnnotationAssertion( "involutional paraphrenias"^^xsd:string) AnnotationAssertion( "involutional psychoses"^^xsd:string) AnnotationAssertion( "involutional psychosis"^^xsd:string) AnnotationAssertion( "major depression"^^xsd:string) AnnotationAssertion( "major depressive disorders"^^xsd:string) AnnotationAssertion( "recurrent major depression"^^xsd:string) AnnotationAssertion( "SAD"^^xsd:string) AnnotationAssertion( "TRYPTOPHAN 5-MONOOXYGENASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER"^^xsd:string) AnnotationAssertion( "major depressive episode"^^xsd:string) AnnotationAssertion( "single major depressive episode"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:1470"^^xsd:string) AnnotationAssertion(rdfs:label "major depressive disorder"^^xsd:string) SubClassOf( ) # Class: (propionic acidemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Propionic_acidemia"^^xsd:string) "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606054"^^xsd:string) AnnotationAssertion( "GARD:467"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.121"^^xsd:string) AnnotationAssertion( "MESH:D056693"^^xsd:string) AnnotationAssertion( "NCI:C85030"^^xsd:string) AnnotationAssertion( "Hyperglycinemia With Ketoacidosis And Leukopenia"^^xsd:string) AnnotationAssertion( "Ketotic Glycinemia"^^xsd:string) AnnotationAssertion( "Ketotic Hyperglycinemia"^^xsd:string) AnnotationAssertion( "PCC Deficiency"^^xsd:string) AnnotationAssertion( "PCC deficiencies"^^xsd:string) AnnotationAssertion( "ketotic II glycinemia"^^xsd:string) AnnotationAssertion( "ketotic glycinemias"^^xsd:string) AnnotationAssertion( "ketotic hyperglycinemias"^^xsd:string) AnnotationAssertion( "propionic acidemias"^^xsd:string) AnnotationAssertion( "propionic aciduria"^^xsd:string) AnnotationAssertion( "propionic acidurias"^^xsd:string) AnnotationAssertion( "propionyl CoA carboxylase deficiency"^^xsd:string) AnnotationAssertion( "propionyl-CoA carboxylase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14701"^^xsd:string) AnnotationAssertion(rdfs:label "propionic acidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (branchiootorenal syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/263442"^^xsd:string) "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001251"^^xsd:string) AnnotationAssertion( "GARD:10147"^^xsd:string) AnnotationAssertion( "MESH:D019280"^^xsd:string) AnnotationAssertion( "MIM:PS166780"^^xsd:string) AnnotationAssertion( "MONDO:0007029"^^xsd:string) AnnotationAssertion( "NCI:C98983"^^xsd:string) AnnotationAssertion( "BOR syndrome"^^xsd:string) AnnotationAssertion( "BRANCHIOOTORENAL SPECTRUM DISORDERS"^^xsd:string) AnnotationAssertion( "Branchio-Oto-Renal Syndrome"^^xsd:string) AnnotationAssertion( "Branchio-Otorenal Syndrome"^^xsd:string) AnnotationAssertion( "Branchiootorenal Dysplasia"^^xsd:string) AnnotationAssertion( "Lee Root Fenske syndrome"^^xsd:string) AnnotationAssertion( "Melnick Fraser syndrome"^^xsd:string) AnnotationAssertion( "branchio-otorenal dysplasia"^^xsd:string) AnnotationAssertion( "branchiootorenal syndrome with cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14702"^^xsd:string) AnnotationAssertion(rdfs:label "branchiootorenal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pfeiffer syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pfeiffer_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/pfeiffer-syndrome"^^xsd:string) Annotation( "https://www.faces-cranio.org/pfeiffer"^^xsd:string) "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)"^^xsd:string) AnnotationAssertion( "MIM:101600"^^xsd:string) AnnotationAssertion( "GARD:7380"^^xsd:string) AnnotationAssertion( "MESH:C538582"^^xsd:string) AnnotationAssertion( "NCI:C99100"^^xsd:string) AnnotationAssertion( "ORDO:710"^^xsd:string) AnnotationAssertion( "ACS V"^^xsd:string) AnnotationAssertion( "ACS5"^^xsd:string) AnnotationAssertion( "Pfeiffer type acrocephalosyndactyly"^^xsd:string) AnnotationAssertion( "acrocephalosyndactylia type V"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly, type 5"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly, type V"^^xsd:string) AnnotationAssertion( "type V acrocephalosyndactylies"^^xsd:string) AnnotationAssertion( "NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA"^^xsd:string) AnnotationAssertion( "PFEIFFER SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14705"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FG syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/FG_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/fg-syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1"^^xsd:string) "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009297"^^xsd:string) AnnotationAssertion( "GARD:2317"^^xsd:string) AnnotationAssertion( "MESH:C537923"^^xsd:string) AnnotationAssertion( "MIM:PS305400"^^xsd:string) AnnotationAssertion( "ORDO:93932"^^xsd:string) AnnotationAssertion( "FGS"^^xsd:string) AnnotationAssertion( "Keller syndrome"^^xsd:string) AnnotationAssertion( "OKS"^^xsd:string) AnnotationAssertion( "Opitz-Kaveggia syndrome"^^xsd:string) AnnotationAssertion( "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum"^^xsd:string) AnnotationAssertion( "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14711"^^xsd:string) AnnotationAssertion(rdfs:label "FG syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (centronuclear myopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Centronuclear_myopathy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/centronuclear-myopathy"^^xsd:string) "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (DO)"^^xsd:string) AnnotationAssertion( "GARD:101"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.22"^^xsd:string) AnnotationAssertion( "MIM:PS160150"^^xsd:string) AnnotationAssertion( "ORDO:595"^^xsd:string) AnnotationAssertion( "ORDO:596"^^xsd:string) AnnotationAssertion( "ORDO:69186"^^xsd:string) AnnotationAssertion( "ORDO:69189"^^xsd:string) AnnotationAssertion( "centronuclear myopathies"^^xsd:string) AnnotationAssertion( "myotubular myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14717"^^xsd:string) AnnotationAssertion(rdfs:label "centronuclear myopathy"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos syndrome classic type 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130000"^^xsd:string) AnnotationAssertion( "COL5A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536194"^^xsd:string) AnnotationAssertion( "NCI:C125696"^^xsd:string) AnnotationAssertion( "EDS I"^^xsd:string) AnnotationAssertion( "EDS1"^^xsd:string) AnnotationAssertion( "EDSCL1"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type 1"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type I"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, Gravis type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, classic severe form"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, classic type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, severe classic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14720"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome classic type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beta-ketothiolase deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics"^^xsd:string) "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203750"^^xsd:string) AnnotationAssertion( "GARD:872"^^xsd:string) AnnotationAssertion( "MESH:C535434"^^xsd:string) AnnotationAssertion( "NCI:C98841"^^xsd:string) AnnotationAssertion( "ORDO:134"^^xsd:string) AnnotationAssertion( "2-alpha-methyl-3-hydroxybutyricacidemia"^^xsd:string) AnnotationAssertion( "2-methyl-3-hydroxybutyric acidemia"^^xsd:string) AnnotationAssertion( "2-methyl-3-hydroxybutyricacidemia"^^xsd:string) AnnotationAssertion( "3-Alpha-Ktd Deficiency"^^xsd:string) AnnotationAssertion( "3-Alpha-Oxothiolase Deficiency"^^xsd:string) AnnotationAssertion( "3-KTD DEFICIENCY"^^xsd:string) AnnotationAssertion( "3-Methylhydroxybutyric Acidemia"^^xsd:string) AnnotationAssertion( "3-alpha-ketothiolase deficiency"^^xsd:string) AnnotationAssertion( "3-ketothiolase deficiency"^^xsd:string) AnnotationAssertion( "3-oxothiolase deficiency"^^xsd:string) AnnotationAssertion( "Alpha-Methylacetoacetic Aciduria"^^xsd:string) AnnotationAssertion( "Alpha-methylacetoaceticaciduria"^^xsd:string) AnnotationAssertion( "B-Ketothiolase Deficiency"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE"^^xsd:string) AnnotationAssertion( "MAT DEFICIENCY"^^xsd:string) AnnotationAssertion( "T2 deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency - potassium stimulated"^^xsd:string) AnnotationAssertion( "mitochondrial acetoacetyl-CoA thiolase deficiency"^^xsd:string) AnnotationAssertion( "peroxisomal thiolase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14723"^^xsd:string) AnnotationAssertion(rdfs:label "beta-ketothiolase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant microcephaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3236353"^^xsd:string) "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156580"^^xsd:string) AnnotationAssertion( "MESH:C537323"^^xsd:string) AnnotationAssertion( "microcephaly with autosomal dominant inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14725"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Weaver syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/weaver-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30793471"^^xsd:string) "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536687"^^xsd:string) AnnotationAssertion( "MIM:277590"^^xsd:string) AnnotationAssertion( "GARD:5545"^^xsd:string) AnnotationAssertion( "GARD:7878"^^xsd:string) AnnotationAssertion( "MESH:C562443"^^xsd:string) AnnotationAssertion( "NCI:C125599"^^xsd:string) AnnotationAssertion( "ORDO:3447"^^xsd:string) AnnotationAssertion( "WSS"^^xsd:string) AnnotationAssertion( "WVS"^^xsd:string) AnnotationAssertion( "Weaver-Smith syndrome"^^xsd:string) AnnotationAssertion( "Weaver-Williams syndrome"^^xsd:string) AnnotationAssertion( "Weaver-like syndrome"^^xsd:string) AnnotationAssertion( "camptodactyly-overgrowth-unusual facies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14731"^^xsd:string) AnnotationAssertion(rdfs:label "Weaver syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary angioedema) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/hereditary-angioedema/"^^xsd:string) "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004133"^^xsd:string) AnnotationAssertion( "GARD:5979"^^xsd:string) AnnotationAssertion( "MESH:D054179"^^xsd:string) AnnotationAssertion( "MIM:PS106100"^^xsd:string) AnnotationAssertion( "MONDO:0019623"^^xsd:string) AnnotationAssertion( "NCI:C84758"^^xsd:string) AnnotationAssertion( "ORDO:91378"^^xsd:string) AnnotationAssertion( "HAE"^^xsd:string) AnnotationAssertion( "HANE"^^xsd:string) AnnotationAssertion( "hereditary angioedemas"^^xsd:string) AnnotationAssertion( "hereditary angioneurotic edema"^^xsd:string) AnnotationAssertion( "hereditary angioneurotic edemas"^^xsd:string) AnnotationAssertion( "HEREDITARY ANGIOEDEMA WITH NORMAL C1INH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14735"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary angioedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (craniofrontonasal syndrome) AnnotationAssertion(Annotation( "https://www.omim.org/entry/304110"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520"^^xsd:string) "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304110"^^xsd:string) AnnotationAssertion( "GARD:1578"^^xsd:string) AnnotationAssertion( "MESH:C536456"^^xsd:string) AnnotationAssertion( "ORDO:1520"^^xsd:string) AnnotationAssertion( "CFND"^^xsd:string) AnnotationAssertion( "CFNS"^^xsd:string) AnnotationAssertion( "craniofrontonasal dysostosis"^^xsd:string) AnnotationAssertion( "craniofrontonasal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14737"^^xsd:string) AnnotationAssertion(rdfs:label "craniofrontonasal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aggressive periodontitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aggressive_periodontitis"^^xsd:string) "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. (DO)"^^xsd:string) AnnotationAssertion( "MIM:170650"^^xsd:string) AnnotationAssertion( "EFO:0006342"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.2"^^xsd:string) AnnotationAssertion( "MESH:D010520"^^xsd:string) AnnotationAssertion( "JP"^^xsd:string) AnnotationAssertion( "JPD"^^xsd:string) AnnotationAssertion( "Juvenile Periodontitis"^^xsd:string) AnnotationAssertion( "PPP"^^xsd:string) AnnotationAssertion( "aggressive periodontitis, 1"^^xsd:string) AnnotationAssertion( "circumpubertal periodontitis"^^xsd:string) AnnotationAssertion( "early-onset periodontitis"^^xsd:string) AnnotationAssertion( "prepubertal periodontitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "periodontoses, formerly"^^xsd:string) AnnotationAssertion( "periodontosis, formerly"^^xsd:string) AnnotationAssertion( "DOID:1474"^^xsd:string) AnnotationAssertion(rdfs:label "aggressive periodontitis"^^xsd:string) SubClassOf( ) # Class: (trichorhinophalangeal syndrome type I) AnnotationAssertion(Annotation( "http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract"^^xsd:string) "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (DO)"^^xsd:string) AnnotationAssertion( "MIM:190350"^^xsd:string) AnnotationAssertion( "MESH:C536820"^^xsd:string) AnnotationAssertion( "NCI:C75109"^^xsd:string) AnnotationAssertion( "Giedion syndrome"^^xsd:string) AnnotationAssertion( "Sugio-Kajii syndrome"^^xsd:string) AnnotationAssertion( "TRPS I"^^xsd:string) AnnotationAssertion( "TRPS1"^^xsd:string) AnnotationAssertion( "Trichorhinophalangeal (TRP) syndrome 1"^^xsd:string) AnnotationAssertion( "Trichorhinophalangeal dysplasia 1"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal dysplasia type I"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14743"^^xsd:string) AnnotationAssertion(rdfs:label "trichorhinophalangeal syndrome type I"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Partington syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/partington-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23622180"^^xsd:string) "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. (DO)"^^xsd:string) AnnotationAssertion( "MIM:309510"^^xsd:string) AnnotationAssertion( "GARD:4235"^^xsd:string) AnnotationAssertion( "MESH:C536300"^^xsd:string) AnnotationAssertion( "ORDO:94083"^^xsd:string) AnnotationAssertion( "MRX36"^^xsd:string) AnnotationAssertion( "MRXS1"^^xsd:string) AnnotationAssertion( "PRTS"^^xsd:string) AnnotationAssertion( "Partington X-linked mental retardation syndrome"^^xsd:string) AnnotationAssertion( "X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME"^^xsd:string) AnnotationAssertion( "X-linked Russell-Silver syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 36"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with dystonic movements, ataxia, and seizures"^^xsd:string) AnnotationAssertion( "mental retardation-dystonic movements-ataxia-seizures syndrome"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 1"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14744"^^xsd:string) AnnotationAssertion(rdfs:label "Partington syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sotos syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_gigantism"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome"^^xsd:string) "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004147"^^xsd:string) AnnotationAssertion( "GARD:10091"^^xsd:string) AnnotationAssertion( "MESH:D058495"^^xsd:string) AnnotationAssertion( "MIM:PS117550"^^xsd:string) AnnotationAssertion( "MONDO:0019349"^^xsd:string) AnnotationAssertion( "NCI:C75019"^^xsd:string) AnnotationAssertion( "ORDO:821"^^xsd:string) AnnotationAssertion( "Soto syndrome"^^xsd:string) AnnotationAssertion( "Soto's syndrome"^^xsd:string) AnnotationAssertion( "Sotos sequence"^^xsd:string) AnnotationAssertion( "Sotos' syndrome"^^xsd:string) AnnotationAssertion( "cerebral gigantism"^^xsd:string) AnnotationAssertion( "cerebral gigantisms"^^xsd:string) AnnotationAssertion( "chromosome 5q35 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14748"^^xsd:string) AnnotationAssertion(rdfs:label "Sotos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methylmalonic acidemia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia"^^xsd:string) "An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7033"^^xsd:string) AnnotationAssertion( "MESH:C537358"^^xsd:string) AnnotationAssertion( "NCI:C98986"^^xsd:string) AnnotationAssertion( "isolated methylmalonic acidemia"^^xsd:string) AnnotationAssertion( "methylmalonic aciduria"^^xsd:string) AnnotationAssertion( "methylmalonicaciduria due to methylmalonic CoA mutase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14749"^^xsd:string) AnnotationAssertion(rdfs:label "methylmalonic acidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphangioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Lymphangioma"^^xsd:string) "A benign vascular tumor that is composed of dilated lymphatic channels. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001026"^^xsd:string) AnnotationAssertion( "GARD:9789"^^xsd:string) AnnotationAssertion( "ICD10CM:D18.1"^^xsd:string) AnnotationAssertion( "ICD9CM:228.1"^^xsd:string) AnnotationAssertion( "ICDO:9170/0"^^xsd:string) AnnotationAssertion( "MESH:D008202"^^xsd:string) AnnotationAssertion( "NCI:C8965"^^xsd:string) AnnotationAssertion( "Cavernous Lymphangioma"^^xsd:string) AnnotationAssertion( "Lymphangioendothelioma"^^xsd:string) AnnotationAssertion( "Lymphangioendotheliomas"^^xsd:string) AnnotationAssertion( "Lymphangiomas"^^xsd:string) AnnotationAssertion( "Lymphatic Endothelioma"^^xsd:string) AnnotationAssertion( "benign lymphangioma"^^xsd:string) AnnotationAssertion( "cavernous lymphangiomas"^^xsd:string) AnnotationAssertion( "congenital lymphangioma"^^xsd:string) AnnotationAssertion( "lymphatic endotheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1475"^^xsd:string) AnnotationAssertion(rdfs:label "lymphangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isovaleric acidemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Isovaleric_acidemia"^^xsd:string) "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:243500"^^xsd:string) AnnotationAssertion( "GARD:465"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.110"^^xsd:string) AnnotationAssertion( "MESH:C538167"^^xsd:string) AnnotationAssertion( "NCI:C98964"^^xsd:string) AnnotationAssertion( "IVA"^^xsd:string) AnnotationAssertion( "IVD deficiency"^^xsd:string) AnnotationAssertion( "Isovaleric Acidemia, Type II"^^xsd:string) AnnotationAssertion( "Isovaleric Acidemia, Type III"^^xsd:string) AnnotationAssertion( "Isovaleryl CoA carboxylase deficiency"^^xsd:string) AnnotationAssertion( "isovaleric acid CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "isovaleric acidemia, type I"^^xsd:string) AnnotationAssertion( "isovaleric aciduria"^^xsd:string) AnnotationAssertion( "isovaleryl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14753"^^xsd:string) AnnotationAssertion(rdfs:label "isovaleric acidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (argininosuccinic aciduria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Argininosuccinic_aciduria"^^xsd:string) "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:207900"^^xsd:string) AnnotationAssertion( "GARD:5843"^^xsd:string) AnnotationAssertion( "MESH:D056807"^^xsd:string) AnnotationAssertion( "NCI:C84569"^^xsd:string) AnnotationAssertion( "ASA Deficiencies"^^xsd:string) AnnotationAssertion( "ASA Deficiency"^^xsd:string) AnnotationAssertion( "ASL Deficiencies"^^xsd:string) AnnotationAssertion( "ASL Deficiency"^^xsd:string) AnnotationAssertion( "Arginino Succinase Deficiency"^^xsd:string) AnnotationAssertion( "Argininosuccinase Deficiency"^^xsd:string) AnnotationAssertion( "Argininosuccinate Acidemia"^^xsd:string) AnnotationAssertion( "Argininosuccinate Acidemias"^^xsd:string) AnnotationAssertion( "Argininosuccinate Lyase Deficiencies"^^xsd:string) AnnotationAssertion( "Argininosuccinate Lyase Deficiency"^^xsd:string) AnnotationAssertion( "Argininosuccinic Acid Lyase Deficiency"^^xsd:string) AnnotationAssertion( "Argininosuccinic Acidemia"^^xsd:string) AnnotationAssertion( "Argininosuccinic Acidurias"^^xsd:string) AnnotationAssertion( "Argininosuccinicaciduria"^^xsd:string) AnnotationAssertion( "Argininosuccinicacidurias"^^xsd:string) AnnotationAssertion( "Argininosuccinyl-Coa Lyase Deficiency"^^xsd:string) AnnotationAssertion( "Arginosuccinase Deficiency"^^xsd:string) AnnotationAssertion( "Asauria"^^xsd:string) AnnotationAssertion( "Inborn Error of Urea Synthesis, Arginino Succinic Type"^^xsd:string) AnnotationAssertion( "arginino succinase deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of argininosuccinate lyase"^^xsd:string) AnnotationAssertion( "urea cycle disorder, arginino succinase type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14755"^^xsd:string) AnnotationAssertion(rdfs:label "argininosuccinic aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vascular type Ehlers-Danlos syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21637106/"^^xsd:string) "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "COL3A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:2082"^^xsd:string) AnnotationAssertion( "MIM:130050"^^xsd:string) AnnotationAssertion( "NCI:C125699"^^xsd:string) AnnotationAssertion( "ORDO:286"^^xsd:string) AnnotationAssertion( "EDSVASC"^^xsd:string) AnnotationAssertion( "Ehlers Danlos Syndrome, arterial type"^^xsd:string) AnnotationAssertion( "Ehlers Danlos syndrome, Ecchymotic type"^^xsd:string) AnnotationAssertion( "Ehlers Danlos syndrome, Sack Barabas type"^^xsd:string) AnnotationAssertion( "autosomal dominant type IV Ehlers-Danlos syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14756"^^xsd:string) AnnotationAssertion(rdfs:label "vascular type Ehlers-Danlos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos syndrome hypermobility type) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130020"^^xsd:string) AnnotationAssertion( "GARD:2081"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.62"^^xsd:string) AnnotationAssertion( "MESH:C536196"^^xsd:string) AnnotationAssertion( "NCI:C125698"^^xsd:string) AnnotationAssertion( "Benign hypermobility syndrome"^^xsd:string) AnnotationAssertion( "EDS III"^^xsd:string) AnnotationAssertion( "EDS3"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type 3"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14757"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome hypermobility type"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive type IV Ehlers-Danlos syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, recessive type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14759"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive type IV Ehlers-Danlos syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Greig cephalopolysyndactyly syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550"^^xsd:string) "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175700"^^xsd:string) AnnotationAssertion( "GARD:6550"^^xsd:string) AnnotationAssertion( "MESH:C537300"^^xsd:string) AnnotationAssertion( "NCI:C35255"^^xsd:string) AnnotationAssertion( "ORDO:380"^^xsd:string) AnnotationAssertion( "GCPS"^^xsd:string) AnnotationAssertion( "Greig cephalopolysyndactyly (GCPS) syndrome"^^xsd:string) AnnotationAssertion( "Greig syndrome"^^xsd:string) AnnotationAssertion( "cephalopolysyndactyly syndrome"^^xsd:string) AnnotationAssertion( "polysyndactyly with peculiar skull shape"^^xsd:string) AnnotationAssertion( "polysyndactyly with peculiars skull shape"^^xsd:string) AnnotationAssertion( "GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14761"^^xsd:string) AnnotationAssertion(rdfs:label "Greig cephalopolysyndactyly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (calcaneonavicular coalition) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome"^^xsd:string) "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. (DO)"^^xsd:string) AnnotationAssertion( "MIM:186400"^^xsd:string) AnnotationAssertion( "RDO:0004092"^^xsd:string) AnnotationAssertion( "MESH:C538156"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:62628008"^^xsd:string) "Multiple synostosis syndrome"^^xsd:string) AnnotationAssertion( "tarsal, carpal, and digital synostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14762"^^xsd:string) AnnotationAssertion(rdfs:label "calcaneonavicular coalition"^^xsd:string) SubClassOf( ) # Class: (Larsen syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Larsen_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/larsen-syndrome"^^xsd:string) "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:150250"^^xsd:string) AnnotationAssertion( "GARD:6860"^^xsd:string) AnnotationAssertion( "MESH:C537873"^^xsd:string) AnnotationAssertion( "LRS"^^xsd:string) AnnotationAssertion( "Larsen syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "Larsen syndrome, dominant type"^^xsd:string) AnnotationAssertion( "dominant Larsen syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorders"^^xsd:string) AnnotationAssertion( "DOID:14764"^^xsd:string) AnnotationAssertion(rdfs:label "Larsen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal agenesis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Renal_agenesis"^^xsd:string) "A renal disease that is characterized by the failure of one or both kidneys to develop. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9228"^^xsd:string) AnnotationAssertion( "MESH:C536482"^^xsd:string) AnnotationAssertion( "MESH:C563261"^^xsd:string) AnnotationAssertion( "MIM:PS191830"^^xsd:string) AnnotationAssertion( "NCI:C99041"^^xsd:string) AnnotationAssertion( "ORDO:93108"^^xsd:string) AnnotationAssertion( "HRA"^^xsd:string) AnnotationAssertion( "Hereditary Renal Aplasia"^^xsd:string) AnnotationAssertion( "RENAL ADYSPLASIA"^^xsd:string) AnnotationAssertion( "bilateral renal agenesis"^^xsd:string) AnnotationAssertion( "hereditary renal agenesis"^^xsd:string) AnnotationAssertion( "hereditary urogenital adysplasia"^^xsd:string) AnnotationAssertion( "renal aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14766"^^xsd:string) AnnotationAssertion(rdfs:label "renal agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Saethre-Chotzen syndrome) AnnotationAssertion(Annotation( "http://children.webmd.com/saethre-chotzen-syndrome"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/saethre-chotzen-syndrome"^^xsd:string) Annotation( "https://www.faces-cranio.org/saethre-chotzen"^^xsd:string) "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7598"^^xsd:string) AnnotationAssertion( "MESH:C566325"^^xsd:string) AnnotationAssertion( "NCI:C75034"^^xsd:string) AnnotationAssertion( "ORDO:794"^^xsd:string) AnnotationAssertion( "ACS III"^^xsd:string) AnnotationAssertion( "ACS3"^^xsd:string) AnnotationAssertion( "BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3"^^xsd:string) AnnotationAssertion( "BPES3"^^xsd:string) AnnotationAssertion( "Chotzen syndrome"^^xsd:string) AnnotationAssertion( "MIM:101400"^^xsd:string) AnnotationAssertion( "SCS"^^xsd:string) AnnotationAssertion( "Saethre-Chotzen syndrome with eyelid anomalies"^^xsd:string) AnnotationAssertion( "acrocephalosyndactylies, type 3"^^xsd:string) AnnotationAssertion( "acrocephalosyndactylies, type III"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly III"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14768"^^xsd:string) AnnotationAssertion(rdfs:label "Saethre-Chotzen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cartilage-hair hypoplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11207361"^^xsd:string) "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:250250"^^xsd:string) AnnotationAssertion( "MESH:C535916"^^xsd:string) AnnotationAssertion( "NCI:C61245"^^xsd:string) AnnotationAssertion( "CHH"^^xsd:string) AnnotationAssertion( "McKusick metaphyseal chondrodysplasia syndrome"^^xsd:string) AnnotationAssertion( "cartilage hair syndrome"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia, McKusick type"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia, recessive type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14773"^^xsd:string) AnnotationAssertion(rdfs:label "cartilage-hair hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brittle cornea syndrome 1) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28306229/"^^xsd:string) "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:229200"^^xsd:string) AnnotationAssertion( "GARD:1019"^^xsd:string) AnnotationAssertion( "MESH:C536192"^^xsd:string) AnnotationAssertion( "NCI:C125700"^^xsd:string) AnnotationAssertion( "BCS1"^^xsd:string) AnnotationAssertion( "CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY"^^xsd:string) AnnotationAssertion( "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility"^^xsd:string) AnnotationAssertion( "Dysgenesis Mesodermalis Corneae et Sclerae"^^xsd:string) AnnotationAssertion( "EDS6B"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type VIB"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome 6B"^^xsd:string) AnnotationAssertion( "ZNF469-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "fragilitas oculi with joint hyperextensibility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14775"^^xsd:string) AnnotationAssertion(rdfs:label "brittle cornea syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign familial neonatal epilepsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:2159"^^xsd:string) AnnotationAssertion( "Benign Familial Neonatal Infantile Seizures"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions"^^xsd:string) AnnotationAssertion( "benign familial neonatal seizures"^^xsd:string) AnnotationAssertion( "familial neonatal seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14777"^^xsd:string) AnnotationAssertion(rdfs:label "benign familial neonatal epilepsy"^^xsd:string) SubClassOf( ) # Class: (blepharophimosis, ptosis, and epicanthus inversus syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11175783"^^xsd:string) "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566222"^^xsd:string) AnnotationAssertion( "MIM:110100"^^xsd:string) AnnotationAssertion( "EFO:0004883"^^xsd:string) AnnotationAssertion( "MESH:C562419"^^xsd:string) AnnotationAssertion( "MONDO:0007201"^^xsd:string) AnnotationAssertion( "BPES"^^xsd:string) AnnotationAssertion( "blepharophimosis syndrome"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus"^^xsd:string) AnnotationAssertion( "blepharophimosis-ptosis-epicanthus inversus syndrome"^^xsd:string) AnnotationAssertion( "BPES with Duane retraction syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14778"^^xsd:string) AnnotationAssertion(rdfs:label "blepharophimosis, ptosis, and epicanthus inversus syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (KBG syndrome) AnnotationAssertion(Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome"^^xsd:string) Annotation( "https://www.kbgfoundation.com/home.html"^^xsd:string) "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (DO)"^^xsd:string) AnnotationAssertion( "MIM:148050"^^xsd:string) AnnotationAssertion( "GARD:82"^^xsd:string) AnnotationAssertion( "MESH:C537015"^^xsd:string) AnnotationAssertion( "ORDO:2332"^^xsd:string) AnnotationAssertion( "ANKRD11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KBGS"^^xsd:string) AnnotationAssertion( "Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14780"^^xsd:string) AnnotationAssertion(rdfs:label "KBG syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (olivopontocerebellar atrophy) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/opca/opca.htm"^^xsd:string) "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009849"^^xsd:string) AnnotationAssertion( "NCI:C84947"^^xsd:string) AnnotationAssertion( "Dejerine Thomas syndrome"^^xsd:string) AnnotationAssertion( "Familial Olivopontocerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Idiopathic Olivopontocerebellar Atrophies"^^xsd:string) AnnotationAssertion( "Idiopathic Olivopontocerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Inherited Olivopontocerebellar Atrophies"^^xsd:string) AnnotationAssertion( "Inherited Olivopontocerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Nonfamilial Olivopontocerebellar Atrophies"^^xsd:string) AnnotationAssertion( "Nonfamilial Olivopontocerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Olivo Ponto Cerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Olivo Ponto Cerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Olivo-Ponto-Cerebellar Degenerations"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Degenerations"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar Hypoplasia"^^xsd:string) AnnotationAssertion( "Pontoolivocerebellar Atrophies"^^xsd:string) AnnotationAssertion( "Pontoolivocerebellar Atrophy"^^xsd:string) AnnotationAssertion( "Presenile Ataxia"^^xsd:string) AnnotationAssertion( "Thomas' syndrome"^^xsd:string) AnnotationAssertion( "Wadia-Swami syndrome"^^xsd:string) AnnotationAssertion( "familial olivopontocerebellar atrophies"^^xsd:string) AnnotationAssertion( "olivopontocerebellar atrophies"^^xsd:string) AnnotationAssertion( "presenile ataxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14784"^^xsd:string) AnnotationAssertion(rdfs:label "olivopontocerebellar atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepiphyseal dysplasia congenita) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1971141/"^^xsd:string) "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)"^^xsd:string) AnnotationAssertion( "MIM:183900"^^xsd:string) AnnotationAssertion( "GARD:4987"^^xsd:string) AnnotationAssertion( "MESH:C535788"^^xsd:string) AnnotationAssertion( "SED congenita"^^xsd:string) AnnotationAssertion( "SED, congenital type"^^xsd:string) AnnotationAssertion( "SEDC"^^xsd:string) AnnotationAssertion( "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT"^^xsd:string) AnnotationAssertion( "Spondyloepiphyseal dysplasia, congenital type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14789"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepiphyseal dysplasia congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber congenital amaurosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis"^^xsd:string) "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)"^^xsd:string) AnnotationAssertion( "GARD:634"^^xsd:string) AnnotationAssertion( "MESH:D057130"^^xsd:string) AnnotationAssertion( "MIM:PS204000"^^xsd:string) AnnotationAssertion( "NCI:C129075"^^xsd:string) AnnotationAssertion( "ORDO:65"^^xsd:string) AnnotationAssertion( "Heredoretinopathia Congenitalis"^^xsd:string) AnnotationAssertion( "LCA"^^xsd:string) AnnotationAssertion( "Leber Abiotrophy"^^xsd:string) AnnotationAssertion( "Leber abiotrophies"^^xsd:string) AnnotationAssertion( "Leber amaurosis"^^xsd:string) AnnotationAssertion( "Leber congenital amauroses"^^xsd:string) AnnotationAssertion( "Leber congenital tapetoretinal degeneration"^^xsd:string) AnnotationAssertion( "Leber's amauroses"^^xsd:string) AnnotationAssertion( "Leber's amaurosis"^^xsd:string) AnnotationAssertion( "Leber's congenital amaurosis"^^xsd:string) AnnotationAssertion( "Leber's disease"^^xsd:string) AnnotationAssertion( "Lebers amaurosis"^^xsd:string) AnnotationAssertion( "congenital amaurosis of retinal origin"^^xsd:string) AnnotationAssertion( "congenital retinal blindness"^^xsd:string) AnnotationAssertion( "dysgenesis neuroepithelialis retinae"^^xsd:string) AnnotationAssertion( "hereditary epithelial dysplasia of retina"^^xsd:string) AnnotationAssertion( "hereditary retinal aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14791"^^xsd:string) AnnotationAssertion(rdfs:label "Leber congenital amaurosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypohidrotic ectodermal dysplasia) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1112/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468"^^xsd:string) "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:76"^^xsd:string) AnnotationAssertion( "NCI:C84562"^^xsd:string) AnnotationAssertion( "ORDO:238468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14793"^^xsd:string) AnnotationAssertion(rdfs:label "hypohidrotic ectodermal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dubowitz syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dubowitz_syndrome"^^xsd:string) "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:223370"^^xsd:string) AnnotationAssertion( "GARD:6290"^^xsd:string) AnnotationAssertion( "MESH:C535718"^^xsd:string) AnnotationAssertion( "NCI:C125591"^^xsd:string) AnnotationAssertion( "ORDO:235"^^xsd:string) AnnotationAssertion( "Dubowitz's syndrome"^^xsd:string) AnnotationAssertion( "dwarfism-eczema-peculiar facies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14796"^^xsd:string) AnnotationAssertion(rdfs:label "Dubowitz syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blount's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blount%27s_disease"^^xsd:string) Annotation( "http://www.e-radiography.net/radpath/b/blountsdisease.htm"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/blounts_disease"^^xsd:string) "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. (DO)"^^xsd:string) AnnotationAssertion( "MIM:188700"^^xsd:string) AnnotationAssertion( "MIM:259200"^^xsd:string) AnnotationAssertion( "GARD:916"^^xsd:string) AnnotationAssertion( "MESH:C536237"^^xsd:string) AnnotationAssertion( "Blount disease"^^xsd:string) AnnotationAssertion( "Blount disease, adolescent"^^xsd:string) AnnotationAssertion( "osteochondrosis deformans tibiae"^^xsd:string) AnnotationAssertion( "osteochondrosis deformans tibiae, adolescent"^^xsd:string) AnnotationAssertion( "osteochondrosis deformans tibiae, familial infantile type"^^xsd:string) AnnotationAssertion( "tibia vara"^^xsd:string) AnnotationAssertion( "tibia vara, adolescent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:14798"^^xsd:string) AnnotationAssertion(rdfs:label "Blount's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gingival disease) AnnotationAssertion(Annotation( "https://www.nidcr.nih.gov/health-info/gum-disease/more-info"^^xsd:string) "A periodontal disease that is located_in the gums. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009670"^^xsd:string) AnnotationAssertion( "MESH:D005882"^^xsd:string) AnnotationAssertion( "MONDO:0002021"^^xsd:string) AnnotationAssertion( "NCI:C173795"^^xsd:string) AnnotationAssertion( "gingival diseases"^^xsd:string) AnnotationAssertion( "gingival disorder"^^xsd:string) AnnotationAssertion( "gingivoses"^^xsd:string) AnnotationAssertion( "gingivosis"^^xsd:string) AnnotationAssertion( "gum disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1483"^^xsd:string) AnnotationAssertion(rdfs:label "gingival disease"^^xsd:string) SubClassOf( ) # Class: (cystic fibrosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cystic_fibrosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cystic-fibrosis"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/cf/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis"^^xsd:string) "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9006271"^^xsd:string) AnnotationAssertion( "EFO:0000390"^^xsd:string) AnnotationAssertion( "EFO:0009797"^^xsd:string) AnnotationAssertion( "GARD:6233"^^xsd:string) AnnotationAssertion( "ICD10CM:E84"^^xsd:string) AnnotationAssertion( "ICD9CM:277.0"^^xsd:string) AnnotationAssertion( "MESH:D003550"^^xsd:string) AnnotationAssertion( "MIM:219700"^^xsd:string) AnnotationAssertion( "MIM:603855"^^xsd:string) AnnotationAssertion( "MONDO:0009061"^^xsd:string) AnnotationAssertion( "NCI:C2975"^^xsd:string) AnnotationAssertion( "ORDO:586"^^xsd:string) AnnotationAssertion( "CF"^^xsd:string) AnnotationAssertion( "CFM1"^^xsd:string) AnnotationAssertion( "Mucoviscidosis"^^xsd:string) AnnotationAssertion( "cystic fibrosis of pancreas"^^xsd:string) AnnotationAssertion( "fibrocystic disease of pancreas"^^xsd:string) AnnotationAssertion( "pancreas fibrocystic disease"^^xsd:string) AnnotationAssertion( "pancreas fibrocystic diseases"^^xsd:string) AnnotationAssertion( "pancreatic cystic fibrosis"^^xsd:string) AnnotationAssertion( "pulmonary cystic fibrosis"^^xsd:string) AnnotationAssertion( "Nonclassic cystic fibrosis"^^xsd:string) AnnotationAssertion( "lung disease associated with cystic fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cystic fibrosis, modifier of, 1"^^xsd:string) AnnotationAssertion( "meconium ileus in cystic fibrosis, susceptibility to"^^xsd:string) AnnotationAssertion( "susceptibility to chronic infection by pseudomonas aeruginosa in cystic fibrosis"^^xsd:string) AnnotationAssertion( "sweat chloride elevation without cystic fibrosis"^^xsd:string) AnnotationAssertion( "DOID:1485"^^xsd:string) AnnotationAssertion(rdfs:label "cystic fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cystic echinococcosis) AnnotationAssertion(Annotation( "http://www.who.int/mediacentre/factsheets/fs377/en/"^^xsd:string) "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B67.4"^^xsd:string) AnnotationAssertion( "ICD9CM:122.4"^^xsd:string) AnnotationAssertion( "echinococcus granulosus"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infection"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infection of lung"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infection of thyroid"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infectious disease"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infectious disease of liver"^^xsd:string) AnnotationAssertion( "echinococcus granulosus infectious disease of thyroid"^^xsd:string) AnnotationAssertion( "liver echinococcus granulosus"^^xsd:string) AnnotationAssertion( "lung echinococcus granulosus"^^xsd:string) AnnotationAssertion( "thyroid echinococcus granulosus"^^xsd:string) AnnotationAssertion( "unilocular echinococcosis"^^xsd:string) AnnotationAssertion( "unilocular hydatid disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1495"^^xsd:string) AnnotationAssertion(rdfs:label "cystic echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (echinococcosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Echinococcosis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007245"^^xsd:string) AnnotationAssertion( "ICD10CM:B67"^^xsd:string) AnnotationAssertion( "ICD9CM:122"^^xsd:string) AnnotationAssertion( "MESH:D004443"^^xsd:string) AnnotationAssertion( "NCI:C84682"^^xsd:string) AnnotationAssertion( "Hydatid Cyst"^^xsd:string) AnnotationAssertion( "Hydatid Cysts"^^xsd:string) AnnotationAssertion( "Hydatidoses"^^xsd:string) AnnotationAssertion( "echinococcal disease"^^xsd:string) AnnotationAssertion( "echinococcoses"^^xsd:string) AnnotationAssertion( "echinococcosis of liver"^^xsd:string) AnnotationAssertion( "hepatic echinococcosis"^^xsd:string) AnnotationAssertion( "hydatid disease"^^xsd:string) AnnotationAssertion( "hydatidosis"^^xsd:string) AnnotationAssertion( "liver echinococcus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1496"^^xsd:string) AnnotationAssertion(rdfs:label "echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholera) AnnotationAssertion(Annotation( "http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what"^^xsd:string) Annotation( "http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html"^^xsd:string) "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6043"^^xsd:string) AnnotationAssertion( "ICD10CM:A00"^^xsd:string) AnnotationAssertion( "ICD9CM:001"^^xsd:string) AnnotationAssertion( "MESH:D002771"^^xsd:string) AnnotationAssertion( "Vibrio cholerae"^^xsd:string) AnnotationAssertion( "cholera - Vibrio cholerae"^^xsd:string) AnnotationAssertion( "cholera due to Vibrio cholerae"^^xsd:string) AnnotationAssertion( "choleras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1498"^^xsd:string) AnnotationAssertion(rdfs:label "cholera"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reproductive system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reproductive_system"^^xsd:string) "A disease of anatomical entity that is located_in reproductive system organs. (DO)"^^xsd:string) AnnotationAssertion( "DOID:6309"^^xsd:string) AnnotationAssertion( "EFO:0000512"^^xsd:string) AnnotationAssertion( "NCI:C27613"^^xsd:string) AnnotationAssertion( "genital system disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:15"^^xsd:string) AnnotationAssertion(rdfs:label "reproductive system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (disease of mental health) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mental_disorder"^^xsd:string) "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000677"^^xsd:string) AnnotationAssertion( "EFO:0001335"^^xsd:string) AnnotationAssertion( "ICD10CM:F99"^^xsd:string) AnnotationAssertion( "MESH:D001523"^^xsd:string) AnnotationAssertion( "NCI:C2893"^^xsd:string) AnnotationAssertion( "Mental Disorder"^^xsd:string) AnnotationAssertion( "Psychiatric Diagnosis"^^xsd:string) AnnotationAssertion( "behavior disorders"^^xsd:string) AnnotationAssertion( "mental disorders"^^xsd:string) AnnotationAssertion( "severe mental disorder"^^xsd:string) AnnotationAssertion( "severe mental disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:150"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "disease of mental health"^^xsd:string) SubClassOf( ) # Class: (candidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Candidiasis"^^xsd:string) Annotation( "http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string) "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B37"^^xsd:string) AnnotationAssertion( "ICD9CM:112"^^xsd:string) AnnotationAssertion( "MESH:D002177"^^xsd:string) AnnotationAssertion( "MONDO:0002026"^^xsd:string) AnnotationAssertion( "NCI:C26711"^^xsd:string) AnnotationAssertion( "candidiases"^^xsd:string) AnnotationAssertion( "disseminated candidiasis"^^xsd:string) AnnotationAssertion( "moniliases"^^xsd:string) AnnotationAssertion( "moniliasis"^^xsd:string) AnnotationAssertion( "familial candidiasis, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1508"^^xsd:string) AnnotationAssertion(rdfs:label "candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (avoidant personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Avoidant_personality_disorder"^^xsd:string) "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.6"^^xsd:string) AnnotationAssertion( "ICD9CM:301.82"^^xsd:string) AnnotationAssertion( "NCI:C92636"^^xsd:string) AnnotationAssertion( "anxious personality disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1509"^^xsd:string) AnnotationAssertion(rdfs:label "avoidant personality disorder"^^xsd:string) SubClassOf( ) # Class: (personality disorder) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/personalitydisorders.html"^^xsd:string) "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:301.8"^^xsd:string) AnnotationAssertion( "MESH:D010554"^^xsd:string) AnnotationAssertion( "As If Personality"^^xsd:string) AnnotationAssertion( "Impulse Ridden Personality"^^xsd:string) AnnotationAssertion( "Inadequate Personality"^^xsd:string) AnnotationAssertion( "character disorder"^^xsd:string) AnnotationAssertion( "personality disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1510"^^xsd:string) AnnotationAssertion(rdfs:label "personality disorder"^^xsd:string) SubClassOf( ) # Class: (chronic gonorrhea of cervix) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gonorrhea"^^xsd:string) "A chronic cervicitis that is caused by gonorrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.35"^^xsd:string) AnnotationAssertion( "MONDO:0002029"^^xsd:string) AnnotationAssertion( "chronic gonococcal cervicitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1512"^^xsd:string) AnnotationAssertion(rdfs:label "chronic gonorrhea of cervix"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic cervicitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27243142"^^xsd:string) "A cervicitis that is present for weeks or more. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27057"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1513"^^xsd:string) AnnotationAssertion(rdfs:label "chronic cervicitis"^^xsd:string) SubClassOf( ) # Class: (cecal benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cecum"^^xsd:string) "An intestinal benign neoplasm that is located_in the cecum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007197"^^xsd:string) AnnotationAssertion( "NCI:C4433"^^xsd:string) AnnotationAssertion( "cecum neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of caecum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1517"^^xsd:string) AnnotationAssertion(rdfs:label "cecal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cecal disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cecum"^^xsd:string) "An intestinal disease located_in the cecum. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002429"^^xsd:string) AnnotationAssertion( "cecal diseases"^^xsd:string) AnnotationAssertion( "disorder of cecum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1518"^^xsd:string) AnnotationAssertion(rdfs:label "cecal disease"^^xsd:string) SubClassOf( ) # Class: (cecum carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000021"^^xsd:string) AnnotationAssertion( "NCI:C3491"^^xsd:string) AnnotationAssertion( "caecum carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of cecum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1519"^^xsd:string) AnnotationAssertion(rdfs:label "cecum carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000363"^^xsd:string) AnnotationAssertion( "EFO:1001950"^^xsd:string) AnnotationAssertion( "NCI:C4910"^^xsd:string) AnnotationAssertion( "RDO:9002019"^^xsd:string) AnnotationAssertion( "carcinoma of colon"^^xsd:string) AnnotationAssertion( "colonic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1520"^^xsd:string) AnnotationAssertion(rdfs:label "colon carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cecum cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cecum"^^xsd:string) "A large intestine cancer that is located_in the cecum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.0"^^xsd:string) AnnotationAssertion( "ICD9CM:153.4"^^xsd:string) AnnotationAssertion( "NCI:C9329"^^xsd:string) AnnotationAssertion( "cancer of cecum"^^xsd:string) AnnotationAssertion( "cancer of the cecum"^^xsd:string) AnnotationAssertion( "cecal cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of caecum"^^xsd:string) AnnotationAssertion( "malignant tumor of the cecum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1521"^^xsd:string) AnnotationAssertion(rdfs:label "cecum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cecum lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5515"^^xsd:string) AnnotationAssertion( "cecal lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1522"^^xsd:string) AnnotationAssertion(rdfs:label "cecum lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4793"^^xsd:string) AnnotationAssertion( "colonic lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1523"^^xsd:string) AnnotationAssertion(rdfs:label "colon lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodular nonsuppurative panniculitis) AnnotationAssertion(Annotation( "MESH:D010201"^^xsd:string) "A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders."^^xsd:string) AnnotationAssertion( "EFO:1000742"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.6"^^xsd:string) AnnotationAssertion( "MESH:D010201"^^xsd:string) AnnotationAssertion( "RDO:0006272"^^xsd:string) AnnotationAssertion( "Nodular Nonsuppurative Panniculitides"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:33760009"^^xsd:string) "Relapsing febrile nodular nonsuppurative panniculitis"^^xsd:string) AnnotationAssertion( "Weber Christian Disease"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:203121003"^^xsd:string) "nodular non-suppurative febrile panniculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1525"^^xsd:string) AnnotationAssertion(rdfs:label "nodular nonsuppurative panniculitis"^^xsd:string) SubClassOf( ) # Class: (panniculitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Panniculitis"^^xsd:string) "A skin disease that is characterized by inflammation of subcutaneous adipose tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000746"^^xsd:string) AnnotationAssertion( "ICD10CM:M79.3"^^xsd:string) AnnotationAssertion( "ICD9CM:729.30"^^xsd:string) AnnotationAssertion( "MESH:D015434"^^xsd:string) AnnotationAssertion( "NCI:C112112"^^xsd:string) AnnotationAssertion( "Cold Panniculitides"^^xsd:string) AnnotationAssertion( "cold panniculitis"^^xsd:string) AnnotationAssertion( "panniculitides"^^xsd:string) AnnotationAssertion( "subacute nodular migratory panniculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1526"^^xsd:string) AnnotationAssertion(rdfs:label "panniculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penile disease) AnnotationAssertion(Annotation( "MESH:D010409"^^xsd:string) "Pathological processes involving the PENIS or its component tissues."^^xsd:string) AnnotationAssertion( "ICD10CM:N48.8"^^xsd:string) AnnotationAssertion( "ICD10CM:N48.89"^^xsd:string) AnnotationAssertion( "ICD9CM:607.8"^^xsd:string) AnnotationAssertion( "MESH:D010409"^^xsd:string) AnnotationAssertion( "penile diseases"^^xsd:string) AnnotationAssertion( "penis disease"^^xsd:string) AnnotationAssertion( "penis diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1529"^^xsd:string) AnnotationAssertion(rdfs:label "penile disease"^^xsd:string) SubClassOf( ) # Class: (pleural disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleural_disease"^^xsd:string) "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010995"^^xsd:string) AnnotationAssertion( "NCI:C26859"^^xsd:string) AnnotationAssertion( "disorder of pleura"^^xsd:string) AnnotationAssertion( "non-neoplastic pleural disease"^^xsd:string) AnnotationAssertion( "pleural diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1532"^^xsd:string) AnnotationAssertion(rdfs:label "pleural disease"^^xsd:string) SubClassOf( ) # Class: (mixed cell type cancer) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/mixed+neoplasm"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007373"^^xsd:string) AnnotationAssertion( "NCI:C3729"^^xsd:string) AnnotationAssertion( "NCI:C6930"^^xsd:string) AnnotationAssertion( "malignant mixed cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3729"^^xsd:string) "malignant mixed neoplasm"^^xsd:string) AnnotationAssertion( "mixed neoplasm"^^xsd:string) AnnotationAssertion( "mixed tumor"^^xsd:string) AnnotationAssertion( "DOID:154"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cell type cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parathyroid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parathyroid_gland"^^xsd:string) "An endocrine gland cancer located_in the parathyroid glands located in the neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:608266"^^xsd:string) AnnotationAssertion( "EFO:1000456"^^xsd:string) AnnotationAssertion( "GARD:7329"^^xsd:string) AnnotationAssertion( "ICD10CM:C75.0"^^xsd:string) AnnotationAssertion( "ICD9CM:194.1"^^xsd:string) AnnotationAssertion( "NCI:C3313"^^xsd:string) AnnotationAssertion( "NCI:C4906"^^xsd:string) AnnotationAssertion( "NCI:C9322"^^xsd:string) AnnotationAssertion( "RDO:9003921"^^xsd:string) AnnotationAssertion( "PRTC"^^xsd:string) AnnotationAssertion( "carcinoma of parathyroid gland"^^xsd:string) AnnotationAssertion( "malignant neoplasm of parathyroid gland"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9322"^^xsd:string) "malignant neoplasm of the parathyroid"^^xsd:string) AnnotationAssertion( "malignant tumor of parathyroid gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:127020005"^^xsd:string) "neoplasm of parathyroid gland"^^xsd:string) AnnotationAssertion( "parathyroid carcinomas"^^xsd:string) AnnotationAssertion( "parathyroid gland adenocarcinoma"^^xsd:string) AnnotationAssertion( "parathyroid gland cancer"^^xsd:string) AnnotationAssertion( "parathyroid carcinoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1540"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (head and neck carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Head_and_neck_cancer"^^xsd:string) Annotation( "http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string) "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002038"^^xsd:string) AnnotationAssertion( "NCI:C6077"^^xsd:string) AnnotationAssertion( "carcinoma of neck"^^xsd:string) AnnotationAssertion( "carcinoma of the neck"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1542"^^xsd:string) AnnotationAssertion(rdfs:label "head and neck carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vibratory urticaria) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26841242/"^^xsd:string) "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536347"^^xsd:string) AnnotationAssertion( "MIM:125630"^^xsd:string) AnnotationAssertion( "EFO:1000775"^^xsd:string) AnnotationAssertion( "GARD:9806"^^xsd:string) AnnotationAssertion( "ICD10CM:L50.4"^^xsd:string) AnnotationAssertion( "ICD9CM:708.4"^^xsd:string) AnnotationAssertion( "MESH:D000094482"^^xsd:string) AnnotationAssertion( "VBU"^^xsd:string) AnnotationAssertion( "VIBRATORY ANGIOEDEMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1554"^^xsd:string) AnnotationAssertion(rdfs:label "vibratory urticaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urticaria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urticaria"^^xsd:string) "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005531"^^xsd:string) AnnotationAssertion( "ICD9CM:708.8"^^xsd:string) AnnotationAssertion( "MESH:D014581"^^xsd:string) AnnotationAssertion( "Hives"^^xsd:string) AnnotationAssertion( "urticarias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1555"^^xsd:string) AnnotationAssertion(rdfs:label "urticaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arthus reaction) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Arthus_reaction"^^xsd:string) "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000821"^^xsd:string) AnnotationAssertion( "ICD10CM:T78.41"^^xsd:string) AnnotationAssertion( "ICD9CM:995.21"^^xsd:string) AnnotationAssertion( "MESH:D001183"^^xsd:string) AnnotationAssertion( "NCI:C34400"^^xsd:string) AnnotationAssertion( "arthus phenomenon"^^xsd:string) AnnotationAssertion( "arthus type urticaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1556"^^xsd:string) AnnotationAssertion(rdfs:label "arthus reaction"^^xsd:string) SubClassOf( ) # Class: (hypersensitivity reaction type III disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Type_III_hypersensitivity"^^xsd:string) "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001222"^^xsd:string) AnnotationAssertion( "MESH:D007105"^^xsd:string) AnnotationAssertion( "Immune Complex Disease"^^xsd:string) AnnotationAssertion( "Immune Complex Diseases"^^xsd:string) AnnotationAssertion( "Type III Hypersensitivities"^^xsd:string) AnnotationAssertion( "Type III Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1557"^^xsd:string) AnnotationAssertion(rdfs:label "hypersensitivity reaction type III disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angioedema) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angioedema"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK430889/"^^xsd:string) "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005532"^^xsd:string) AnnotationAssertion( "ICD10CM:T78.3"^^xsd:string) AnnotationAssertion( "MESH:D000799"^^xsd:string) AnnotationAssertion( "MONDO:0010481"^^xsd:string) AnnotationAssertion( "NCI:C112175"^^xsd:string) AnnotationAssertion( "Angioneurotic Edema"^^xsd:string) AnnotationAssertion( "Giant Urticaria"^^xsd:string) AnnotationAssertion( "Giant Urticarias"^^xsd:string) AnnotationAssertion( "Quincke Edema"^^xsd:string) AnnotationAssertion( "Quincke's edema"^^xsd:string) AnnotationAssertion( "Quinckes edema"^^xsd:string) AnnotationAssertion( "angioedemas"^^xsd:string) AnnotationAssertion( "angioneurotic edemas"^^xsd:string) AnnotationAssertion( "angioneurotic oedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1558"^^xsd:string) AnnotationAssertion(rdfs:label "angioedema"^^xsd:string) SubClassOf( ) # Class: (cognitive disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cognitive_disorder"^^xsd:string) "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001457"^^xsd:string) AnnotationAssertion( "ICD10CM:F09"^^xsd:string) AnnotationAssertion( "MESH:D003072"^^xsd:string) AnnotationAssertion( "MESH:D019965"^^xsd:string) AnnotationAssertion( "NCI:C34870"^^xsd:string) AnnotationAssertion( "Clerambault syndrome"^^xsd:string) AnnotationAssertion( "Cognition Disorders"^^xsd:string) AnnotationAssertion( "Delirium, Dementia, Amnestic, Cognitive Disorders"^^xsd:string) AnnotationAssertion( "Kandinsky Syndrome"^^xsd:string) AnnotationAssertion( "Neurocognitive Disorder"^^xsd:string) AnnotationAssertion( "Neurocognitive Disorders"^^xsd:string) AnnotationAssertion( "Nonpsychotic Organic Brain Syndrome"^^xsd:string) AnnotationAssertion( "Organic Mental Disorder"^^xsd:string) AnnotationAssertion( "Organic Mental Disorders"^^xsd:string) AnnotationAssertion( "cognition disorder"^^xsd:string) AnnotationAssertion( "cognitive disease"^^xsd:string) AnnotationAssertion( "overinclusion"^^xsd:string) AnnotationAssertion( "psychotic organic mental disorders"^^xsd:string) AnnotationAssertion( "traumatic psychoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1561"^^xsd:string) AnnotationAssertion(rdfs:label "cognitive disorder"^^xsd:string) SubClassOf( ) # Class: (chromoblastomycosis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005"^^xsd:string) "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007207"^^xsd:string) AnnotationAssertion( "GARD:1319"^^xsd:string) AnnotationAssertion( "ICD10CM:B43.9"^^xsd:string) AnnotationAssertion( "ICD9CM:117.2"^^xsd:string) AnnotationAssertion( "MESH:D002862"^^xsd:string) AnnotationAssertion( "chromoblastomycoses"^^xsd:string) AnnotationAssertion( "chromomycoses"^^xsd:string) AnnotationAssertion( "chromomycosis"^^xsd:string) AnnotationAssertion( "dermatitis verrucosa"^^xsd:string) AnnotationAssertion( "mossy foot disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1562"^^xsd:string) AnnotationAssertion(rdfs:label "chromoblastomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermatomycosis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004"^^xsd:string) "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:111.9"^^xsd:string) AnnotationAssertion( "MESH:D003881"^^xsd:string) AnnotationAssertion( "dermatomycoses"^^xsd:string) AnnotationAssertion( "fungal skin disease"^^xsd:string) AnnotationAssertion( "fungal skin diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1563"^^xsd:string) AnnotationAssertion(rdfs:label "dermatomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fungal infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mycoses"^^xsd:string) "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B49"^^xsd:string) AnnotationAssertion( "ICD9CM:110-118.99"^^xsd:string) AnnotationAssertion( "MESH:D009181"^^xsd:string) AnnotationAssertion( "NCI:C3245"^^xsd:string) AnnotationAssertion( "Fungal Disease"^^xsd:string) AnnotationAssertion( "Fungal Infection"^^xsd:string) AnnotationAssertion( "Fungus Disease"^^xsd:string) AnnotationAssertion( "Fungus Diseases"^^xsd:string) AnnotationAssertion( "Fungus Infection"^^xsd:string) AnnotationAssertion( "fungal diseases"^^xsd:string) AnnotationAssertion( "fungal infections"^^xsd:string) AnnotationAssertion( "fungus infections"^^xsd:string) AnnotationAssertion( "mycoses"^^xsd:string) AnnotationAssertion( "mycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1564"^^xsd:string) AnnotationAssertion(rdfs:label "fungal infectious disease"^^xsd:string) SubClassOf( ) # Class: (mechanical ectropion) AnnotationAssertion( "ICD9CM:374.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1569"^^xsd:string) AnnotationAssertion(rdfs:label "mechanical ectropion"^^xsd:string) SubClassOf( ) # Class: (ectropion) AnnotationAssertion( "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.1"^^xsd:string) AnnotationAssertion( "ICD9CM:374.1"^^xsd:string) AnnotationAssertion( "MESH:D004483"^^xsd:string) AnnotationAssertion( "ectropion of eyelid"^^xsd:string) AnnotationAssertion( "ectropions"^^xsd:string) AnnotationAssertion( "everted margin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1570"^^xsd:string) AnnotationAssertion(rdfs:label "ectropion"^^xsd:string) SubClassOf( ) # Class: (spastic ectropion) AnnotationAssertion( "ICD9CM:374.13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1571"^^xsd:string) AnnotationAssertion(rdfs:label "spastic ectropion"^^xsd:string) SubClassOf( ) # Class: (normal pressure hydrocephalus) AnnotationAssertion(Annotation( "MESH:D006850"^^xsd:string) "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)"^^xsd:string) AnnotationAssertion( "MIM:236690"^^xsd:string) AnnotationAssertion( "EFO:1001065"^^xsd:string) AnnotationAssertion( "ICD10CM:G91.2"^^xsd:string) AnnotationAssertion( "MESH:D006850"^^xsd:string) AnnotationAssertion( "HYDNP1"^^xsd:string) AnnotationAssertion( "Hakim Syndrome"^^xsd:string) AnnotationAssertion( "Hakim Syndromes"^^xsd:string) AnnotationAssertion( "Hakim's Syndrome"^^xsd:string) AnnotationAssertion( "Hakim's syndromes"^^xsd:string) AnnotationAssertion( "Hakims Syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:69663004"^^xsd:string) "Low pressure hydrocephalus"^^xsd:string) AnnotationAssertion( "NPH (normal pressure hydrocephalus)"^^xsd:string) AnnotationAssertion( "normal pressure hydrocephalus 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1572"^^xsd:string) AnnotationAssertion(rdfs:label "normal pressure hydrocephalus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (communicating hydrocephalus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G91.0"^^xsd:string) AnnotationAssertion( "ICD9CM:331.3"^^xsd:string) AnnotationAssertion( "NCI:C34501"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1573"^^xsd:string) AnnotationAssertion(rdfs:label "communicating hydrocephalus"^^xsd:string) SubClassOf( ) # Class: (alcohol use disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alcohol_abuse"^^xsd:string) Annotation( "https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders"^^xsd:string) "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F10.1"^^xsd:string) AnnotationAssertion( "ICD9CM:305.0"^^xsd:string) AnnotationAssertion( "MESH:D000437"^^xsd:string) AnnotationAssertion( "NCI:C20701"^^xsd:string) AnnotationAssertion( "alcohol abuse"^^xsd:string) AnnotationAssertion( "chronic alcoholic intoxication"^^xsd:string) AnnotationAssertion( "ethanol abuse"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Beta-glycopyranoside tasting"^^xsd:string) AnnotationAssertion( "DOID:1574"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol use disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rheumatic disease) AnnotationAssertion(Annotation( "http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string) "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005755"^^xsd:string) AnnotationAssertion( "MESH:D012216"^^xsd:string) AnnotationAssertion( "rheumatic diseases"^^xsd:string) AnnotationAssertion( "rheumatism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1575"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (limited scleroderma) AnnotationAssertion(Annotation( "MESH:D045745"^^xsd:string) "The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma."^^xsd:string) AnnotationAssertion( "EFO:1001017"^^xsd:string) AnnotationAssertion( "MESH:D045745"^^xsd:string) AnnotationAssertion( "limited cutaneous systemic sclerosis"^^xsd:string) AnnotationAssertion( "limited systemic scleroderma"^^xsd:string) AnnotationAssertion( "limited systemic sclerodermas"^^xsd:string) AnnotationAssertion( "limited systemic sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1577"^^xsd:string) AnnotationAssertion(rdfs:label "limited scleroderma"^^xsd:string) SubClassOf( ) # Class: (pulmonary systemic sclerosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M34.81"^^xsd:string) AnnotationAssertion( "ICD9CM:517.2"^^xsd:string) AnnotationAssertion( "lung disease with systemic sclerosis"^^xsd:string) AnnotationAssertion( "lung involvement in systemic sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1578"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary systemic sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (respiratory system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/File:Respiratory_system_complete_en.svg"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system"^^xsd:string) "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000684"^^xsd:string) AnnotationAssertion( "ICD10CM:J98"^^xsd:string) AnnotationAssertion( "ICD9CM:519"^^xsd:string) AnnotationAssertion( "MESH:D012140"^^xsd:string) AnnotationAssertion( "respiratory disease"^^xsd:string) AnnotationAssertion( "respiratory system diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1579"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "respiratory system disease"^^xsd:string) SubClassOf( ) # Class: (diffuse scleroderma) AnnotationAssertion(Annotation( "MESH:D045743"^^xsd:string) "A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability."^^xsd:string) AnnotationAssertion( "EFO:0000404"^^xsd:string) AnnotationAssertion( "MESH:D045743"^^xsd:string) AnnotationAssertion( "NCI:C116791"^^xsd:string) AnnotationAssertion( "Diffuse Cutaneous Systemic Sclerosis"^^xsd:string) AnnotationAssertion( "Diffuse Systemic Sclerosis"^^xsd:string) AnnotationAssertion( "Sudden Onset Scleroderma"^^xsd:string) AnnotationAssertion( "diffuse systemic scleroses"^^xsd:string) AnnotationAssertion( "sudden onset sclerodermas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1580"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse scleroderma"^^xsd:string) SubClassOf( ) # Class: (laryngeal tuberculosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf"^^xsd:string) Annotation( "http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607"^^xsd:string) Annotation( "http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf"^^xsd:string) "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007337"^^xsd:string) AnnotationAssertion( "ICD10CM:A15.5"^^xsd:string) AnnotationAssertion( "ICD9CM:012.3"^^xsd:string) AnnotationAssertion( "MESH:D014387"^^xsd:string) AnnotationAssertion( "NCI:C26895"^^xsd:string) AnnotationAssertion( "Tuberculosis of Larynx"^^xsd:string) AnnotationAssertion( "laryngeal tuberculoses"^^xsd:string) AnnotationAssertion( "larynx tuberculoses"^^xsd:string) AnnotationAssertion( "larynx tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1583"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute chest syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_chest_syndrome"^^xsd:string) "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007129"^^xsd:string) AnnotationAssertion( "ICD9CM:517.3"^^xsd:string) AnnotationAssertion( "MESH:D056586"^^xsd:string) AnnotationAssertion( "NCI:C138179"^^xsd:string) AnnotationAssertion( "Acute Chest Syndromes"^^xsd:string) AnnotationAssertion( "acute chest syndrome in sickle cell disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1584"^^xsd:string) AnnotationAssertion(rdfs:label "acute chest syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rheumatic fever) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Rheumatic_fever"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/003940.htm"^^xsd:string) "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268240"^^xsd:string) AnnotationAssertion( "EFO:1001160"^^xsd:string) AnnotationAssertion( "GARD:5699"^^xsd:string) AnnotationAssertion( "ICD10CM:I00"^^xsd:string) AnnotationAssertion( "ICD10CM:I00-I02"^^xsd:string) AnnotationAssertion( "ICD9CM:390"^^xsd:string) AnnotationAssertion( "ICD9CM:390-392.99"^^xsd:string) AnnotationAssertion( "MESH:D012213"^^xsd:string) AnnotationAssertion( "NCI:C34984"^^xsd:string) AnnotationAssertion( "Acute Articular Rheumatism"^^xsd:string) AnnotationAssertion( "Acute Articular Rheumatisms"^^xsd:string) AnnotationAssertion( "Acute Rheumatic Arthritides"^^xsd:string) AnnotationAssertion( "Acute Rheumatic Arthritis"^^xsd:string) AnnotationAssertion( "Acute Rheumatic Fever"^^xsd:string) AnnotationAssertion( "Acute Rheumatic Fevers"^^xsd:string) AnnotationAssertion( "Inflammatory Rheumatism"^^xsd:string) AnnotationAssertion( "Polyarthritis Rheumatica"^^xsd:string) AnnotationAssertion( "Polyarthritis Rheumaticas"^^xsd:string) AnnotationAssertion( "RhF - rheumatic fever"^^xsd:string) AnnotationAssertion( "Rheumatic Arthritis"^^xsd:string) AnnotationAssertion( "Rheumatic Fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1586"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thrombocytopenia due to platelet alloimmunization) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3991"^^xsd:string) AnnotationAssertion( "auto-immune thrombocytopenia"^^xsd:string) AnnotationAssertion( "immune thrombocytopenia"^^xsd:string) AnnotationAssertion( "thrombocytopenia due to immune destruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1587"^^xsd:string) AnnotationAssertion(rdfs:label "thrombocytopenia due to platelet alloimmunization"^^xsd:string) SubClassOf( ) # Class: (thrombocytopenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thrombocytopenia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=thrombocytopenia"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html"^^xsd:string) "A blood platelet disease that is characterized by low a platelet count in the blood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.6"^^xsd:string) AnnotationAssertion( "ICD9CM:287.5"^^xsd:string) AnnotationAssertion( "MESH:D013921"^^xsd:string) AnnotationAssertion( "MIM:PS313900"^^xsd:string) AnnotationAssertion( "MIM:PS613112"^^xsd:string) AnnotationAssertion( "ORDO:852"^^xsd:string) AnnotationAssertion( "thrombocytopenias"^^xsd:string) AnnotationAssertion( "thrombopenia"^^xsd:string) AnnotationAssertion( "thrombopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1588"^^xsd:string) AnnotationAssertion(rdfs:label "thrombocytopenia"^^xsd:string) SubClassOf( ) # Class: (renovascular hypertension) AnnotationAssertion(Annotation( "MESH:D006978"^^xsd:string) "Hypertension due to RENAL ARTERY OBSTRUCTION or compression."^^xsd:string) AnnotationAssertion( "EFO:1001153"^^xsd:string) AnnotationAssertion( "ICD10CM:I15.0"^^xsd:string) AnnotationAssertion( "MESH:D006978"^^xsd:string) AnnotationAssertion( "NCI:C85044"^^xsd:string) AnnotationAssertion( "Goldblatt Hypertension"^^xsd:string) AnnotationAssertion( "Goldblatt Syndrome"^^xsd:string) AnnotationAssertion( "renal vascular hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1591"^^xsd:string) AnnotationAssertion(rdfs:label "renovascular hypertension"^^xsd:string) SubClassOf( ) # Class: (melancholic depression) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15596079/"^^xsd:string) "A major depressive disorder characterized by near-complete absence of pleasure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:2848"^^xsd:string) AnnotationAssertion( "EFO:1002014"^^xsd:string) AnnotationAssertion( "NCI:C34532"^^xsd:string) AnnotationAssertion( "NCI:C34812"^^xsd:string) AnnotationAssertion( "NCI:C35094"^^xsd:string) AnnotationAssertion( "clinical depression"^^xsd:string) AnnotationAssertion( "endogenous depression"^^xsd:string) AnnotationAssertion( "endogenous depressions"^^xsd:string) AnnotationAssertion( "major depressive disorder with melancholic features"^^xsd:string) AnnotationAssertion( "melancholia"^^xsd:string) AnnotationAssertion( "melancholias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1595"^^xsd:string) AnnotationAssertion(rdfs:label "melancholic depression"^^xsd:string) SubClassOf( ) # Class: (depressive disorder) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9290-depression"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31550874/"^^xsd:string) "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F33.9"^^xsd:string) AnnotationAssertion( "MESH:D003866"^^xsd:string) AnnotationAssertion( "NCI:C2982"^^xsd:string) AnnotationAssertion( "depression"^^xsd:string) AnnotationAssertion( "depressive disorders"^^xsd:string) AnnotationAssertion( "depressive neuroses"^^xsd:string) AnnotationAssertion( "depressive neurosis"^^xsd:string) AnnotationAssertion( "depressive syndrome"^^xsd:string) AnnotationAssertion( "depressive syndromes"^^xsd:string) AnnotationAssertion( "depressivity"^^xsd:string) AnnotationAssertion( "mental depression"^^xsd:string) AnnotationAssertion( "unipolar depression"^^xsd:string) AnnotationAssertion( "unipolar depressions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1596"^^xsd:string) AnnotationAssertion(rdfs:label "depressive disorder"^^xsd:string) SubClassOf( ) # Class: (integumentary system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Integumentary_system"^^xsd:string) "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:16"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "integumentary system disease"^^xsd:string) SubClassOf( ) # Class: (lymphadenitis) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis"^^xsd:string) "A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I88.1"^^xsd:string) AnnotationAssertion( "ICD10CM:L04"^^xsd:string) AnnotationAssertion( "ICD10CM:L04.9"^^xsd:string) AnnotationAssertion( "ICD9CM:289.1"^^xsd:string) AnnotationAssertion( "ICD9CM:683"^^xsd:string) AnnotationAssertion( "MESH:D008199"^^xsd:string) AnnotationAssertion( "NCI:C26821"^^xsd:string) AnnotationAssertion( "NCI:C26966"^^xsd:string) AnnotationAssertion( "NCI:C26978"^^xsd:string) AnnotationAssertion( "Adenitides"^^xsd:string) AnnotationAssertion( "Adenitis"^^xsd:string) AnnotationAssertion( "Lymphadenitides"^^xsd:string) AnnotationAssertion( "acute adenitis"^^xsd:string) AnnotationAssertion( "acute lymphadenitis"^^xsd:string) AnnotationAssertion( "chronic adenitis"^^xsd:string) AnnotationAssertion( "chronic lymphadenitis"^^xsd:string) AnnotationAssertion( "inflammation of lymph node"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1602"^^xsd:string) AnnotationAssertion(rdfs:label "lymphadenitis"^^xsd:string) SubClassOf( ) # Class: (hypoglycemic coma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypoglycemia"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/"^^xsd:string) "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E15"^^xsd:string) AnnotationAssertion( "ICD9CM:251.0"^^xsd:string) AnnotationAssertion( "NCI:C181765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1607"^^xsd:string) AnnotationAssertion(rdfs:label "hypoglycemic coma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Keratosis"^^xsd:string) "A skin disease characterized_by growth of keratin on the skin or mucous membranes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000720"^^xsd:string) AnnotationAssertion( "MESH:D007642"^^xsd:string) AnnotationAssertion( "NCI:C34747"^^xsd:string) AnnotationAssertion( "Keratoderma Blennorrhagicum"^^xsd:string) AnnotationAssertion( "Keratoma"^^xsd:string) AnnotationAssertion( "Keratomas"^^xsd:string) AnnotationAssertion( "Keratoses"^^xsd:string) AnnotationAssertion( "Keratosis Blennorrhagica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:161"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis"^^xsd:string) SubClassOf( ) # Class: (breast cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Mammary"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/breast"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/breastcancer.html"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Breast-Cancer"^^xsd:string) "A thoracic cancer that originates in the mammary gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:114480"^^xsd:string) AnnotationAssertion( "PPM1D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009649"^^xsd:string) AnnotationAssertion( "ICD10CM:C50"^^xsd:string) AnnotationAssertion( "MONDO:0007254"^^xsd:string) AnnotationAssertion( "NCI:C9335"^^xsd:string) AnnotationAssertion( "BRCATA"^^xsd:string) AnnotationAssertion( "breast malignant neoplasms"^^xsd:string) AnnotationAssertion( "breast malignant tumor"^^xsd:string) AnnotationAssertion( "breast malignant tumors"^^xsd:string) AnnotationAssertion( "cancer of breast"^^xsd:string) AnnotationAssertion( "malignant neoplasm breast"^^xsd:string) AnnotationAssertion( "malignant neoplasm of breast"^^xsd:string) AnnotationAssertion( "malignant neoplasm of female breast"^^xsd:string) AnnotationAssertion( "malignant tumor of breast"^^xsd:string) AnnotationAssertion( "malignant tumor of the breast"^^xsd:string) AnnotationAssertion( "mammary cancer"^^xsd:string) AnnotationAssertion( "mammary tumor"^^xsd:string) AnnotationAssertion( "primary breast cancer"^^xsd:string) AnnotationAssertion( "HEREDITARY BREAST CANCER, ABRAXAS1-RELATED"^^xsd:string) AnnotationAssertion( "PMS1-RELATED BREAST CANCER"^^xsd:string) AnnotationAssertion( "breast cancer, 11-22 translocation-associated"^^xsd:string) AnnotationAssertion( "breast cancer, early onset"^^xsd:string) AnnotationAssertion( "breast cancer, invasive ductal"^^xsd:string) AnnotationAssertion( "breast cancer, lobular"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "breast cancer, post-chemotherapy poor survival in"^^xsd:string) AnnotationAssertion( "breast cancer, protection against"^^xsd:string) AnnotationAssertion( "breast cancer, somatic"^^xsd:string) AnnotationAssertion( "breast cancer, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:1612"^^xsd:string) AnnotationAssertion(rdfs:label "breast cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male breast cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24131976"^^xsd:string) "A breast cancer that occurs in males. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9312"^^xsd:string) AnnotationAssertion( "malignant neoplasm of male breast"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126937006"^^xsd:string) "neoplasm of male breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1614"^^xsd:string) AnnotationAssertion(rdfs:label "male breast cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign eccrine breast spiradenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25284865/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26236527/"^^xsd:string) "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1616"^^xsd:string) AnnotationAssertion(rdfs:label "benign eccrine breast spiradenoma"^^xsd:string) SubClassOf( ) # Class: (breast fibroadenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm"^^xsd:string) "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D24"^^xsd:string) AnnotationAssertion( "NCI:C3744"^^xsd:string) AnnotationAssertion( "NCI:C4276"^^xsd:string) AnnotationAssertion( "NCI:C5194"^^xsd:string) AnnotationAssertion( "cellular fibroadenoma"^^xsd:string) AnnotationAssertion( "complex fibroadenoma of breast"^^xsd:string) AnnotationAssertion( "fibroadenoma of breast"^^xsd:string) AnnotationAssertion( "juvenile fibroadenoma"^^xsd:string) AnnotationAssertion( "juvenile fibroadenoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1618"^^xsd:string) AnnotationAssertion(rdfs:label "breast fibroadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/cancer"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer"^^xsd:string) "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000311"^^xsd:string) AnnotationAssertion( "EFO:1000654"^^xsd:string) AnnotationAssertion( "ICD10CM:C80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:199"^^xsd:string) AnnotationAssertion( "ICDO:8000/3"^^xsd:string) AnnotationAssertion( "MONDO:0004992"^^xsd:string) AnnotationAssertion( "NCI:C9305"^^xsd:string) AnnotationAssertion( "cancers"^^xsd:string) AnnotationAssertion( "malignant neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor"^^xsd:string) AnnotationAssertion( "primary cancer"^^xsd:string) AnnotationAssertion( "childhood cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:162"^^xsd:string) AnnotationAssertion(rdfs:label "cancer"^^xsd:string) SubClassOf( ) # Class: (breast leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/"^^xsd:string) "A breast benign neoplasm that has_material_basis_in smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40399"^^xsd:string) AnnotationAssertion( "RDO:9003367"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1623"^^xsd:string) AnnotationAssertion(rdfs:label "breast leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/949710"^^xsd:string) "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40382"^^xsd:string) AnnotationAssertion( "ademoma - breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1625"^^xsd:string) AnnotationAssertion(rdfs:label "breast adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast duct papilloma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Intraductal_papilloma"^^xsd:string) "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000306"^^xsd:string) AnnotationAssertion( "NCI:C3863"^^xsd:string) AnnotationAssertion( "Intraductal Breast Papilloma"^^xsd:string) AnnotationAssertion( "duct papilloma of breast"^^xsd:string) AnnotationAssertion( "papilloma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1626"^^xsd:string) AnnotationAssertion(rdfs:label "breast duct papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intraductal papilloma) AnnotationAssertion(Annotation( "MESH:D018300"^^xsd:string) "A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "ICDO:8503/0"^^xsd:string) AnnotationAssertion( "MESH:D018300"^^xsd:string) AnnotationAssertion( "NCI:C3785"^^xsd:string) AnnotationAssertion( "ductal papilloma"^^xsd:string) AnnotationAssertion( "intraductal papillomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1627"^^xsd:string) AnnotationAssertion(rdfs:label "intraductal papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intraductal papillary breast neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22336153"^^xsd:string) "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36090"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1628"^^xsd:string) AnnotationAssertion(rdfs:label "intraductal papillary breast neoplasm"^^xsd:string) SubClassOf( ) # Class: (breast myofibroblastoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/"^^xsd:string) "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40397"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1629"^^xsd:string) AnnotationAssertion(rdfs:label "breast myofibroblastoma"^^xsd:string) SubClassOf( ) # Class: (benign breast phyllodes tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Phyllodes_tumor"^^xsd:string) "A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D48.6"^^xsd:string) AnnotationAssertion( "NCI:C2977"^^xsd:string) AnnotationAssertion( "NCI:C4274"^^xsd:string) AnnotationAssertion( "NCI:C5196"^^xsd:string) AnnotationAssertion( "benign cystosarcoma phyllodes"^^xsd:string) AnnotationAssertion( "benign phyllodes neoplasm"^^xsd:string) AnnotationAssertion( "benign phyllodes neoplasm of the breast"^^xsd:string) AnnotationAssertion( "benign phyllodes tumor"^^xsd:string) AnnotationAssertion( "cystosarcoma phyllodes"^^xsd:string) AnnotationAssertion( "phyllodes neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1631"^^xsd:string) AnnotationAssertion(rdfs:label "benign breast phyllodes tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (breast angiomatosis) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23488550"^^xsd:string) "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1637"^^xsd:string) AnnotationAssertion(rdfs:label "breast angiomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central nervous system tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007199"^^xsd:string) AnnotationAssertion( "ICD9CM:013.2"^^xsd:string) AnnotationAssertion( "MESH:D020306"^^xsd:string) AnnotationAssertion( "tuberculoma of brain"^^xsd:string) AnnotationAssertion( "tuberculosis of meninges and central nervous system"^^xsd:string) AnnotationAssertion( "tuberculous abscess of brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1638"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skeletal tuberculosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bone_Tuberculosis"^^xsd:string) "An extrapulmonary tuberculosis that results in formation of lesions located in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007487"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.0"^^xsd:string) AnnotationAssertion( "ICD9CM:015.9"^^xsd:string) AnnotationAssertion( "MESH:D014394"^^xsd:string) AnnotationAssertion( "Bone Tuberculosis"^^xsd:string) AnnotationAssertion( "Joint Tuberculoses"^^xsd:string) AnnotationAssertion( "Joint Tuberculosis"^^xsd:string) AnnotationAssertion( "bone tuberculoses"^^xsd:string) AnnotationAssertion( "osteoarticular tuberculoses"^^xsd:string) AnnotationAssertion( "osteoarticular tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1639"^^xsd:string) AnnotationAssertion(rdfs:label "skeletal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign breast adenomyoepithelioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23627458"^^xsd:string) "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5144"^^xsd:string) AnnotationAssertion( "benign adenomyoepithelioma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1641"^^xsd:string) AnnotationAssertion(rdfs:label "benign breast adenomyoepithelioma"^^xsd:string) SubClassOf( ) # Class: (breast adenomyoepithelioma) AnnotationAssertion(Annotation( "http://www.ajronline.org/cgi/content/full/180/3/799"^^xsd:string) "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5143"^^xsd:string) AnnotationAssertion( "NCI:C6899"^^xsd:string) AnnotationAssertion( "adenomyoepithelioma of the breast"^^xsd:string) AnnotationAssertion( "breast adenomyoepithelioma with malignant change"^^xsd:string) AnnotationAssertion( "malignant adenomyoepithelioma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1642"^^xsd:string) AnnotationAssertion(rdfs:label "breast adenomyoepithelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female breast upper-inner quadrant cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string) "A female breast cancer that is located_in the upper-inner quadrant of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:174.2"^^xsd:string) AnnotationAssertion( "RDO:9001787"^^xsd:string) AnnotationAssertion( "malignant neoplasm of upper-inner quadrant of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1647"^^xsd:string) AnnotationAssertion(rdfs:label "female breast upper-inner quadrant cancer"^^xsd:string) SubClassOf( ) # Class: (female breast lower-inner quadrant cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string) "A female breast cancer that is located_in the lower-inner quadrant of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C50.31"^^xsd:string) AnnotationAssertion( "ICD9CM:174.3"^^xsd:string) AnnotationAssertion( "RDO:9001788"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower-inner quadrant of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1649"^^xsd:string) AnnotationAssertion(rdfs:label "female breast lower-inner quadrant cancer"^^xsd:string) SubClassOf( ) # Class: (female breast axillary tail cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Tail_of_Spence"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24004816"^^xsd:string) "A female breast cancer that is located_in the breast tissue extending into the axilla. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C50.61"^^xsd:string) AnnotationAssertion( "ICD9CM:174.6"^^xsd:string) AnnotationAssertion( "RDO:9001789"^^xsd:string) AnnotationAssertion( "malignant neoplasm of axillary tail of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1650"^^xsd:string) AnnotationAssertion(rdfs:label "female breast axillary tail cancer"^^xsd:string) SubClassOf( ) # Class: (ventricular septal defect) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ventricular_septal_defect"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html"^^xsd:string) "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7853"^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.0"^^xsd:string) AnnotationAssertion( "ICD9CM:745.4"^^xsd:string) AnnotationAssertion( "MESH:D006345"^^xsd:string) AnnotationAssertion( "MIM:PS614429"^^xsd:string) AnnotationAssertion( "NCI:C84506"^^xsd:string) AnnotationAssertion( "ORDO:1480"^^xsd:string) AnnotationAssertion( "congenital ventricular septal defect"^^xsd:string) AnnotationAssertion( "interventricular septal defect"^^xsd:string) AnnotationAssertion( "intraventricular septal defect"^^xsd:string) AnnotationAssertion( "intraventricular septal defects"^^xsd:string) AnnotationAssertion( "ventricular heart septal defects"^^xsd:string) AnnotationAssertion( "ventricular septal abnormality"^^xsd:string) AnnotationAssertion( "ventricular septal defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1657"^^xsd:string) AnnotationAssertion(rdfs:label "ventricular septal defect"^^xsd:string) SubClassOf( ) # Class: (supratentorial cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tentorium_cerebelli"^^xsd:string) "A brain cancer that is located in the supratentorial region. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.0"^^xsd:string) AnnotationAssertion( "NCI:C3397"^^xsd:string) AnnotationAssertion( "NCI:C4964"^^xsd:string) AnnotationAssertion( "malignant supratentorial tumor"^^xsd:string) AnnotationAssertion( "supratentorial brain neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1659"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (melanotic neuroectodermal tumor) AnnotationAssertion(Annotation( "MESH:D017600"^^xsd:string) "A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001038"^^xsd:string) AnnotationAssertion( "ICDO:9363/0"^^xsd:string) AnnotationAssertion( "MESH:D017600"^^xsd:string) AnnotationAssertion( "NCI:C3717"^^xsd:string) AnnotationAssertion( "Infantile Melanotic neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "Melanoameloblastoma"^^xsd:string) AnnotationAssertion( "Melanotic Neuroectodermal Tumors"^^xsd:string) AnnotationAssertion( "Melanotic Progonoma"^^xsd:string) AnnotationAssertion( "Melanotic Progonomas"^^xsd:string) AnnotationAssertion( "Melanotic neuroectodermal tumor of infancy"^^xsd:string) AnnotationAssertion( "Melanotic neuroectodermal tumour of infancy"^^xsd:string) AnnotationAssertion( "Pigmented neuroectodermal tumour of infancy"^^xsd:string) AnnotationAssertion( "Retinal Anlage Tumor"^^xsd:string) AnnotationAssertion( "melanoameloblastomas"^^xsd:string) AnnotationAssertion( "melanotic neuroectodermal tumour"^^xsd:string) AnnotationAssertion( "retinal anlage tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:166"^^xsd:string) AnnotationAssertion(rdfs:label "melanotic neuroectodermal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant pineal area germ cell neoplasm) AnnotationAssertion( "GARD:12017"^^xsd:string) AnnotationAssertion( "NCI:C4659"^^xsd:string) AnnotationAssertion( "NCI:C6767"^^xsd:string) AnnotationAssertion( "malignant pineal parenchymal germ cell tumor"^^xsd:string) AnnotationAssertion( "pineal germ cell tumor"^^xsd:string) AnnotationAssertion( "pineal region germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1660"^^xsd:string) AnnotationAssertion(rdfs:label "malignant pineal area germ cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (pineoblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pinealoblastoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28327927"^^xsd:string) "A pineal gland neoplasm located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000475"^^xsd:string) AnnotationAssertion( "GARD:9369"^^xsd:string) AnnotationAssertion( "NCI:C9344"^^xsd:string) AnnotationAssertion( "pineal PNET"^^xsd:string) AnnotationAssertion( "pineoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1664"^^xsd:string) AnnotationAssertion(rdfs:label "pineoblastoma"^^xsd:string) SubClassOf( ) # Class: (Behcet's syndrome arthropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:711.2"^^xsd:string) AnnotationAssertion( "NCI:C35225"^^xsd:string) AnnotationAssertion( "RDO:9004006"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving ankle and foot"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving forearm"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving hand"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving lower leg"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving multiple sites"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving pelvic region and thigh"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving shoulder region"^^xsd:string) AnnotationAssertion( "Arthropathy in Behcet's syndrome involving upper arm"^^xsd:string) AnnotationAssertion( "Behcet syndrome arthropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1670"^^xsd:string) AnnotationAssertion(rdfs:label "Behcet's syndrome arthropathy"^^xsd:string) SubClassOf( ) # Class: (spontaneous tension pneumothorax) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29961427"^^xsd:string) "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J93.0"^^xsd:string) AnnotationAssertion( "ICD9CM:512.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1672"^^xsd:string) AnnotationAssertion(rdfs:label "spontaneous tension pneumothorax"^^xsd:string) SubClassOf( ) # Class: (pneumothorax) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pneumothorax"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000087.htm"^^xsd:string) "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J93.1"^^xsd:string) AnnotationAssertion( "MESH:D011030"^^xsd:string) AnnotationAssertion( "MONDO:0002076"^^xsd:string) AnnotationAssertion( "pressure pneumothorax"^^xsd:string) AnnotationAssertion( "spontaneous pneumothorax"^^xsd:string) AnnotationAssertion( "tension pneumothorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1673"^^xsd:string) AnnotationAssertion(rdfs:label "pneumothorax"^^xsd:string) SubClassOf( ) # Class: (low implantation of placenta) AnnotationAssertion( "ICD9CM:641.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1677"^^xsd:string) AnnotationAssertion(rdfs:label "low implantation of placenta"^^xsd:string) SubClassOf( ) # Class: (chronic interstitial cystitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Interstitial_cystitis"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357"^^xsd:string) "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000869"^^xsd:string) AnnotationAssertion( "ICD10CM:N30.1"^^xsd:string) AnnotationAssertion( "ICD9CM:595.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1678"^^xsd:string) AnnotationAssertion(rdfs:label "chronic interstitial cystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cystitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306"^^xsd:string) "A bladder disease that is characterized by inflammation of the bladder. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000025"^^xsd:string) AnnotationAssertion( "ICD10CM:N30"^^xsd:string) AnnotationAssertion( "ICD9CM:595"^^xsd:string) AnnotationAssertion( "MESH:D003556"^^xsd:string) AnnotationAssertion( "NCI:C26738"^^xsd:string) AnnotationAssertion( "Cystitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1679"^^xsd:string) AnnotationAssertion(rdfs:label "cystitis"^^xsd:string) SubClassOf( ) # Class: (chronic cystitis) AnnotationAssertion( "Recurrent infections of the urinary bladder. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000023"^^xsd:string) AnnotationAssertion( "ICD10CM:N30.2"^^xsd:string) AnnotationAssertion( "ICD9CM:595.2"^^xsd:string) AnnotationAssertion( "MONDO:0006030"^^xsd:string) AnnotationAssertion( "NCI:C27008"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1680"^^xsd:string) AnnotationAssertion(rdfs:label "chronic cystitis"^^xsd:string) SubClassOf( ) # Class: (heart septal defect) AnnotationAssertion(Annotation( "MESH:D006343"^^xsd:string) "Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both."^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.9"^^xsd:string) AnnotationAssertion( "MESH:D006343"^^xsd:string) AnnotationAssertion( "MONDO:0002078"^^xsd:string) AnnotationAssertion( "NCI:C84482"^^xsd:string) AnnotationAssertion( "cardiac septal defects"^^xsd:string) AnnotationAssertion( "congenital heart septal defects"^^xsd:string) AnnotationAssertion( "congenital septal defect of heart"^^xsd:string) AnnotationAssertion( "heart septal defects"^^xsd:string) AnnotationAssertion( "septal defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1681"^^xsd:string) AnnotationAssertion(rdfs:label "heart septal defect"^^xsd:string) SubClassOf( ) # Class: (congenital heart disease) AnnotationAssertion(Annotation( "MESH:D006330"^^xsd:string) "Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life."^^xsd:string) AnnotationAssertion( "EFO:0005207"^^xsd:string) AnnotationAssertion( "EFO:0005269"^^xsd:string) AnnotationAssertion( "ICD10CM:Q24.9"^^xsd:string) AnnotationAssertion( "ICD9CM:746.9"^^xsd:string) AnnotationAssertion( "MESH:D006330"^^xsd:string) AnnotationAssertion( "MIM:PS212093"^^xsd:string) AnnotationAssertion( "MONDO:0024239"^^xsd:string) AnnotationAssertion( "NCI:C34666"^^xsd:string) AnnotationAssertion( "NCI:C95834"^^xsd:string) AnnotationAssertion( "Heart Abnormalities"^^xsd:string) AnnotationAssertion( "Heart Abnormality"^^xsd:string) AnnotationAssertion( "Heart, Malformation Of"^^xsd:string) AnnotationAssertion( "congenital anomaly of cardiovascular system"^^xsd:string) AnnotationAssertion( "congenital anomaly of heart"^^xsd:string) AnnotationAssertion( "congenital heart defect"^^xsd:string) AnnotationAssertion( "congenital heart defects"^^xsd:string) AnnotationAssertion( "heart defect"^^xsd:string) AnnotationAssertion( "heart malformation"^^xsd:string) AnnotationAssertion( "malformation of the heart"^^xsd:string) AnnotationAssertion( "isolated nonsyndromic congenital heart disease"^^xsd:string) AnnotationAssertion( "malformation of the heart and great vessels"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1682"^^xsd:string) AnnotationAssertion(rdfs:label "congenital heart disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glaucoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glaucoma"^^xsd:string) Annotation( "https://www.aao.org/eye-health/diseases/what-is-glaucoma"^^xsd:string) "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000516"^^xsd:string) AnnotationAssertion( "ICD10CM:H40"^^xsd:string) AnnotationAssertion( "ICD9CM:365"^^xsd:string) AnnotationAssertion( "MESH:D005901"^^xsd:string) AnnotationAssertion( "MONDO:0005041"^^xsd:string) AnnotationAssertion( "NCI:C26782"^^xsd:string) AnnotationAssertion( "glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1686"^^xsd:string) AnnotationAssertion(rdfs:label "glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neovascular glaucoma) AnnotationAssertion(Annotation( "https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x"^^xsd:string) "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001060"^^xsd:string) AnnotationAssertion( "MESH:D015355"^^xsd:string) AnnotationAssertion( "neovascular glaucomas"^^xsd:string) AnnotationAssertion( "secondary angle-closure glaucoma with rubeosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1687"^^xsd:string) AnnotationAssertion(rdfs:label "neovascular glaucoma"^^xsd:string) SubClassOf( ) # Class: (neuroendocrine tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroendocrine_cell"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44904"^^xsd:string) "An endocrine gland cancer that has_material_basis_in neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001901"^^xsd:string) AnnotationAssertion( "ICD10CM:D3A.8"^^xsd:string) AnnotationAssertion( "ICD9CM:209-209.99"^^xsd:string) AnnotationAssertion( "ICDO:8240/3"^^xsd:string) AnnotationAssertion( "MESH:D018358"^^xsd:string) AnnotationAssertion( "NCI:C3809"^^xsd:string) AnnotationAssertion( "neuroendocrine neoplasm"^^xsd:string) AnnotationAssertion( "neuroendocrine tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:169"^^xsd:string) AnnotationAssertion(rdfs:label "neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ichthyosis) AnnotationAssertion(Annotation( "http://purl.obolibrary.org/obo/HP_0008064"^^xsd:string) Annotation( "http://www.dermnetnz.org/topics/ichthyosis/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ichthyosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1420/"^^xsd:string) "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002099"^^xsd:string) AnnotationAssertion( "MESH:D007057"^^xsd:string) AnnotationAssertion( "MIM:PS146590"^^xsd:string) AnnotationAssertion( "NCI:C84776"^^xsd:string) AnnotationAssertion( "ORDO:79354"^^xsd:string) AnnotationAssertion( "Ichthyoses"^^xsd:string) AnnotationAssertion( "non-syndromic ichthyosis"^^xsd:string) AnnotationAssertion( "xeroderma"^^xsd:string) AnnotationAssertion( "xerodermas"^^xsd:string) AnnotationAssertion( "Ichthyosis, ASPRV1-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1697"^^xsd:string) AnnotationAssertion(rdfs:label "ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (musculoskeletal system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders"^^xsd:string) "A disease of anatomical entity that occurs in the muscular and/or skeletal system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009676"^^xsd:string) AnnotationAssertion( "MESH:D009140"^^xsd:string) AnnotationAssertion( "NCI:C107377"^^xsd:string) AnnotationAssertion( "musculoskeletal disease"^^xsd:string) AnnotationAssertion( "musculoskeletal diseases"^^xsd:string) AnnotationAssertion( "orthopedic disorder"^^xsd:string) AnnotationAssertion( "orthopedic disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:17"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "musculoskeletal system disease"^^xsd:string) SubClassOf( ) # Class: (endocrine gland cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string) "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C75.9"^^xsd:string) AnnotationAssertion( "ICD9CM:194.9"^^xsd:string) AnnotationAssertion( "NCI:C3010"^^xsd:string) AnnotationAssertion( "NCI:C3575"^^xsd:string) AnnotationAssertion( "RDO:9003305"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3010"^^xsd:string) "Endocrine tumor"^^xsd:string) AnnotationAssertion( "cancer of endocrine gland"^^xsd:string) AnnotationAssertion( "cancer of the endocrine gland"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2009-5861"^^xsd:string) "endocrine neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3575"^^xsd:string) "malignant Endocrine tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of endocrine gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93780007"^^xsd:string) "malignant tumour of endocrine gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:127015005"^^xsd:string) "neoplasm of endocrine gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:387927001"^^xsd:string) "neoplasm of endocrine system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:170"^^xsd:string) AnnotationAssertion(rdfs:label "endocrine gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked ichthyosis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7904/disease"^^xsd:string) Annotation( "https://www.omim.org/entry/308100"^^xsd:string) "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:308100"^^xsd:string) AnnotationAssertion( "EFO:0009080"^^xsd:string) AnnotationAssertion( "GARD:7904"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.1"^^xsd:string) AnnotationAssertion( "MESH:D016114"^^xsd:string) AnnotationAssertion( "NCI:C84779"^^xsd:string) AnnotationAssertion( "STS deficiency"^^xsd:string) AnnotationAssertion( "Steroid Sulfatase Deficiencies"^^xsd:string) AnnotationAssertion( "Steroid Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "X-linked ichthyoses"^^xsd:string) AnnotationAssertion( "X-linked recessive ichthyosis"^^xsd:string) AnnotationAssertion( "XLI"^^xsd:string) AnnotationAssertion( "sex-linked ichthyoses"^^xsd:string) AnnotationAssertion( "sex-linked ichthyosis"^^xsd:string) AnnotationAssertion( "Placental Steroid Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "SSDD ICHTHYOSIS, X-LINKED, COMPLICATED"^^xsd:string) AnnotationAssertion( "X-linked ichthyosis with steryl-sulphatase deficiency"^^xsd:string) AnnotationAssertion( "X-linked placental steryl-sulphatase deficiency"^^xsd:string) AnnotationAssertion( "steroid sulfatase deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1700"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (steroid inherited metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism"^^xsd:string) Annotation( "http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140"^^xsd:string) "A lipid metabolism disorder that involves defects in steroid metabolism. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005590"^^xsd:string) AnnotationAssertion( "MESH:D043202"^^xsd:string) AnnotationAssertion( "Inborn Errors of Steroid Metabolism"^^xsd:string) AnnotationAssertion( "Steroid Metabolic Diseases, Inborn"^^xsd:string) AnnotationAssertion( "congenital errors of steroid metabolism"^^xsd:string) AnnotationAssertion( "steroid metabolism, inborn errors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1701"^^xsd:string) AnnotationAssertion(rdfs:label "steroid inherited metabolic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ichthyosis vulgaris) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754"^^xsd:string) "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146700"^^xsd:string) AnnotationAssertion( "FLG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FLG-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:6752"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.0"^^xsd:string) AnnotationAssertion( "MESH:D016112"^^xsd:string) AnnotationAssertion( "NCI:C84778"^^xsd:string) AnnotationAssertion( "ichthyosis simplex"^^xsd:string) AnnotationAssertion( "ichthyosis simplices"^^xsd:string) AnnotationAssertion( "autosomal dominant ichthyosis vulgaris"^^xsd:string) AnnotationAssertion( "dominant congenital ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "dominant ichthyosis vulgaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1702"^^xsd:string) AnnotationAssertion(rdfs:label "ichthyosis vulgaris"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Richter's syndrome) AnnotationAssertion( "A rare complication of Chronic Lymphocytic Leukaemia (CLL) and/or Small Lymphocytic Lymphoma (SLL) characterised by the sudden transformation of the CLL/SLL into a significantly more aggressive form of large cell lymphoma.(Leukemia Foundation)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7578"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.1"^^xsd:string) AnnotationAssertion( "NCI:C35424"^^xsd:string) AnnotationAssertion( "Richter syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1703"^^xsd:string) AnnotationAssertion(rdfs:label "Richter's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroectodermal tumor) AnnotationAssertion(Annotation( "MESH:D017599"^^xsd:string) "Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells."^^xsd:string) AnnotationAssertion( "EFO:0005235"^^xsd:string) AnnotationAssertion( "MESH:D017599"^^xsd:string) AnnotationAssertion( "neuroectodermal tumors"^^xsd:string) AnnotationAssertion( "primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:171"^^xsd:string) AnnotationAssertion(rdfs:label "neuroectodermal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aortic valve stenosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aortic_valve_stenosis"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis"^^xsd:string) "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000266"^^xsd:string) AnnotationAssertion( "GARD:5830"^^xsd:string) AnnotationAssertion( "ICD10CM:I06.0"^^xsd:string) AnnotationAssertion( "ICD10CM:Q23.0"^^xsd:string) AnnotationAssertion( "ICD9CM:395.0"^^xsd:string) AnnotationAssertion( "ICD9CM:746.3"^^xsd:string) AnnotationAssertion( "MESH:D001024"^^xsd:string) AnnotationAssertion( "NCI:C50462"^^xsd:string) AnnotationAssertion( "AS"^^xsd:string) AnnotationAssertion( "aortic stenoses"^^xsd:string) AnnotationAssertion( "aortic stenosis"^^xsd:string) AnnotationAssertion( "aortic valve stenoses"^^xsd:string) AnnotationAssertion( "rheumatic aortic stenosis"^^xsd:string) AnnotationAssertion( "rheumatic aortic valve stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1712"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign shuddering attacks) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.83"^^xsd:string) AnnotationAssertion( "ICD9CM:333.93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1713"^^xsd:string) AnnotationAssertion(rdfs:label "benign shuddering attacks"^^xsd:string) SubClassOf( ) # Class: (clear cell acanthoma) AnnotationAssertion( "ICDO:8084/0"^^xsd:string) AnnotationAssertion( "NCI:C97041"^^xsd:string) AnnotationAssertion( "pale (clear cell) acanthoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:172"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell acanthoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenal ulcer) AnnotationAssertion(Annotation( "MESH:D004381"^^xsd:string) "A PEPTIC ULCER located in the DUODENUM."^^xsd:string) AnnotationAssertion( "EFO:0004607"^^xsd:string) AnnotationAssertion( "ICD10CM:K26"^^xsd:string) AnnotationAssertion( "ICD9CM:532"^^xsd:string) AnnotationAssertion( "MESH:D004381"^^xsd:string) AnnotationAssertion( "NCI:C26755"^^xsd:string) AnnotationAssertion( "Curling Ulcer"^^xsd:string) AnnotationAssertion( "Curling's ulcer"^^xsd:string) AnnotationAssertion( "Curling's ulcers"^^xsd:string) AnnotationAssertion( "Curlings Ulcer"^^xsd:string) AnnotationAssertion( "duodenal ulcers"^^xsd:string) AnnotationAssertion( "stress ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1724"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal ulcer"^^xsd:string) SubClassOf( ) # Class: (peritoneum cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peritoneal_cancer"^^xsd:string) "An organ system cancer that is located in the peritoneum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C48.1"^^xsd:string) AnnotationAssertion( "ICD9CM:158.8"^^xsd:string) AnnotationAssertion( "cancer of peritoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1725"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (partial of retinal vein occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34.82"^^xsd:string) AnnotationAssertion( "NCI:C35341"^^xsd:string) AnnotationAssertion( "RDO:9002692"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35341"^^xsd:string) "Partial Retinal Vein Occlusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1726"^^xsd:string) AnnotationAssertion(rdfs:label "partial of retinal vein occlusion"^^xsd:string) SubClassOf( ) # Class: (retinal vein occlusion) AnnotationAssertion(Annotation( "MESH:D012170"^^xsd:string) "Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES."^^xsd:string) AnnotationAssertion( "EFO:1001157"^^xsd:string) AnnotationAssertion( "MESH:D012170"^^xsd:string) AnnotationAssertion( "NCI:C34981"^^xsd:string) AnnotationAssertion( "RVO"^^xsd:string) AnnotationAssertion( "occlusion of retinal vein"^^xsd:string) AnnotationAssertion( "retinal vein occlusions"^^xsd:string) AnnotationAssertion( "retinal vein thromboses"^^xsd:string) AnnotationAssertion( "retinal vein thrombosis"^^xsd:string) AnnotationAssertion( "thrombosis of retinal vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hemi-retinal vein occlusion"^^xsd:string) AnnotationAssertion( "DOID:1727"^^xsd:string) AnnotationAssertion(rdfs:label "retinal vein occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal vascular occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34"^^xsd:string) AnnotationAssertion( "ICD9CM:362.3"^^xsd:string) AnnotationAssertion( "NCI:C34980"^^xsd:string) AnnotationAssertion( "Retinal vasc. occlusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1729"^^xsd:string) AnnotationAssertion(rdfs:label "retinal vascular occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eccrine sweat gland neoplasm) AnnotationAssertion( "NCI:C6796"^^xsd:string) AnnotationAssertion( "eccrine skin neoplasm"^^xsd:string) AnnotationAssertion( "eccrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:173"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine sweat gland neoplasm"^^xsd:string) SubClassOf( ) # Class: (histoplasmosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/niosh/hi97146.html"^^xsd:string) "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007310"^^xsd:string) AnnotationAssertion( "ICD10CM:B39"^^xsd:string) AnnotationAssertion( "ICD9CM:115"^^xsd:string) AnnotationAssertion( "MESH:D006660"^^xsd:string) AnnotationAssertion( "NCI:C34977"^^xsd:string) AnnotationAssertion( "NCI:C77201"^^xsd:string) AnnotationAssertion( "histoplasmoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1731"^^xsd:string) AnnotationAssertion(rdfs:label "histoplasmosis"^^xsd:string) SubClassOf( ) # Class: (cryptosporidiosis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm"^^xsd:string) "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6219"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.2"^^xsd:string) AnnotationAssertion( "ICD9CM:007.4"^^xsd:string) AnnotationAssertion( "MESH:D003457"^^xsd:string) AnnotationAssertion( "NCI:C128408"^^xsd:string) AnnotationAssertion( "Cryptosporidioses"^^xsd:string) AnnotationAssertion( "cryptosporidial gastroenteritis"^^xsd:string) AnnotationAssertion( "infection by Cryptosporidium"^^xsd:string) AnnotationAssertion( "intestinal cryptosporidiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1733"^^xsd:string) AnnotationAssertion(rdfs:label "cryptosporidiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (duodenal benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000907"^^xsd:string) AnnotationAssertion( "NCI:C2995"^^xsd:string) AnnotationAssertion( "neoplasm of duodenum"^^xsd:string) AnnotationAssertion( "neoplasm of the duodenum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1737"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small intestine leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/"^^xsd:string) "A small intestine benign neoplasm that is located_in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7725"^^xsd:string) AnnotationAssertion( "leiomyoma, small bowel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1738"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acanthoma) AnnotationAssertion( "A neoplasm composed of squamous or epidermal cells."^^xsd:string) AnnotationAssertion( "GARD:8604"^^xsd:string) AnnotationAssertion( "MESH:D049309"^^xsd:string) AnnotationAssertion( "NCI:C7419"^^xsd:string) AnnotationAssertion( "Acanthomas"^^xsd:string) AnnotationAssertion( "Clear Cell Acanthoma"^^xsd:string) AnnotationAssertion( "Clear Cell Acanthomas"^^xsd:string) AnnotationAssertion( "Degos Acanthoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:174"^^xsd:string) AnnotationAssertion(rdfs:label "acanthoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (drug psychosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005242"^^xsd:string) AnnotationAssertion( "EFO:1000902"^^xsd:string) AnnotationAssertion( "ICD9CM:292.1"^^xsd:string) AnnotationAssertion( "Drug-induced psychosis"^^xsd:string) AnnotationAssertion( "Drug-induced psychotic disorder"^^xsd:string) AnnotationAssertion( "methamphetamine-induced psychosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1742"^^xsd:string) AnnotationAssertion(rdfs:label "drug psychosis"^^xsd:string) SubClassOf( ) # Class: (conjunctival squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19883851"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27584160"^^xsd:string) "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000206"^^xsd:string) AnnotationAssertion( "NCI:C4549"^^xsd:string) AnnotationAssertion( "conjunctival epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "invasive squamous cell carcinoma of the conjunctiva"^^xsd:string) AnnotationAssertion( "ocular surface squamous neoplasia"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1748"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string) "A carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001787"^^xsd:string) AnnotationAssertion( "EFO:0000707"^^xsd:string) AnnotationAssertion( "EFO:1000597"^^xsd:string) AnnotationAssertion( "GARD:1091"^^xsd:string) AnnotationAssertion( "ICDO:8070/3"^^xsd:string) AnnotationAssertion( "MESH:D002294"^^xsd:string) AnnotationAssertion( "NCI:C21609"^^xsd:string) AnnotationAssertion( "NCI:C2929"^^xsd:string) AnnotationAssertion( "NCI:C60511"^^xsd:string) AnnotationAssertion( "Epidermoid Carcinoma"^^xsd:string) AnnotationAssertion( "Planocellular Carcinoma"^^xsd:string) AnnotationAssertion( "Planocellular Carcinomas"^^xsd:string) AnnotationAssertion( "Squamous Carcinoma"^^xsd:string) AnnotationAssertion( "Squamous Carcinomas"^^xsd:string) AnnotationAssertion( "epidermoid carcinomas"^^xsd:string) AnnotationAssertion( "malignant squamous cell tumor"^^xsd:string) AnnotationAssertion( "squamous cell cancer"^^xsd:string) AnnotationAssertion( "squamous cell carcinomas"^^xsd:string) AnnotationAssertion( "squamous cell epithelioma"^^xsd:string) AnnotationAssertion( "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC"^^xsd:string) AnnotationAssertion( "Squamous cell carcinoma of the digit"^^xsd:string) AnnotationAssertion( "Tonsillar Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1749"^^xsd:string) AnnotationAssertion(rdfs:label "squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vascular cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vascular"^^xsd:string) "A cardiovascular cancer that is located_in blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5348"^^xsd:string) AnnotationAssertion( "NCI:C5380"^^xsd:string) AnnotationAssertion( "NCI:C5383"^^xsd:string) AnnotationAssertion( "NCI:C5388"^^xsd:string) AnnotationAssertion( "NCI:C7388"^^xsd:string) AnnotationAssertion( "NCI:C7390"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the renal vein"^^xsd:string) AnnotationAssertion( "malignant great vessel tumor"^^xsd:string) AnnotationAssertion( "malignant vascular neoplasm"^^xsd:string) AnnotationAssertion( "malignant vascular tumor"^^xsd:string) AnnotationAssertion( "pulmonary artery malignant neoplasm"^^xsd:string) AnnotationAssertion( "pulmonary vein malignant neoplasm"^^xsd:string) AnnotationAssertion( "renal vein leiomyosarcoma"^^xsd:string) AnnotationAssertion( "malignant tumor of pulmonary artery"^^xsd:string) AnnotationAssertion( "malignant tumor of pulmonary vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:175"^^xsd:string) AnnotationAssertion(rdfs:label "vascular cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant conjunctival melanoma) AnnotationAssertion( "EFO:1000204"^^xsd:string) AnnotationAssertion( "NCI:C4550"^^xsd:string) AnnotationAssertion( "conjunctival melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1751"^^xsd:string) AnnotationAssertion(rdfs:label "malignant conjunctival melanoma"^^xsd:string) SubClassOf( ) # Class: (ocular melanoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=269467"^^xsd:string) "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000403"^^xsd:string) AnnotationAssertion( "EFO:1000404"^^xsd:string) AnnotationAssertion( "GARD:7236"^^xsd:string) AnnotationAssertion( "GARD:8621"^^xsd:string) AnnotationAssertion( "NCI:C8562"^^xsd:string) AnnotationAssertion( "eye melanoma"^^xsd:string) AnnotationAssertion( "intraocular melanoma"^^xsd:string) AnnotationAssertion( "melanoma of eye"^^xsd:string) AnnotationAssertion( "Ocular Melanoma with Extraocular Extension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1752"^^xsd:string) AnnotationAssertion(rdfs:label "ocular melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitral valve stenosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mitral_valve_stenosis"^^xsd:string) "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007372"^^xsd:string) AnnotationAssertion( "MESH:D008946"^^xsd:string) AnnotationAssertion( "NCI:C50654"^^xsd:string) AnnotationAssertion( "mitral stenoses"^^xsd:string) AnnotationAssertion( "mitral stenosis"^^xsd:string) AnnotationAssertion( "mitral valve stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1754"^^xsd:string) AnnotationAssertion(rdfs:label "mitral valve stenosis"^^xsd:string) SubClassOf( ) # Class: (facial nerve disease) AnnotationAssertion(Annotation( "MESH:D005155"^^xsd:string) Annotation( "https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp"^^xsd:string) "A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002051"^^xsd:string) AnnotationAssertion( "ICD10CM:G51"^^xsd:string) AnnotationAssertion( "ICD9CM:351"^^xsd:string) AnnotationAssertion( "MESH:D005155"^^xsd:string) AnnotationAssertion( "NCI:C27594"^^xsd:string) AnnotationAssertion( "Acquired Facial Neuropathy"^^xsd:string) AnnotationAssertion( "Facial Myokymia"^^xsd:string) AnnotationAssertion( "Facial Myokymias"^^xsd:string) AnnotationAssertion( "Facial Nerve Disorder"^^xsd:string) AnnotationAssertion( "Facial Nerve Disorders"^^xsd:string) AnnotationAssertion( "Facial Nerve Motor Disorders"^^xsd:string) AnnotationAssertion( "Facial Nerve Sensory Disorders"^^xsd:string) AnnotationAssertion( "Facial Neuritides"^^xsd:string) AnnotationAssertion( "Facial Neuritis"^^xsd:string) AnnotationAssertion( "Facial Neuropathies"^^xsd:string) AnnotationAssertion( "Facial Neuropathy"^^xsd:string) AnnotationAssertion( "acquired facial neuropathies"^^xsd:string) AnnotationAssertion( "cranial nerve VII diseases"^^xsd:string) AnnotationAssertion( "cranial nerve VII disorders"^^xsd:string) AnnotationAssertion( "facial nerve diseases"^^xsd:string) AnnotationAssertion( "familial facial neuropathies"^^xsd:string) AnnotationAssertion( "familial facial neuropathy"^^xsd:string) AnnotationAssertion( "seventh cranial nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1756"^^xsd:string) AnnotationAssertion(rdfs:label "facial nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (facial hemiatrophy) AnnotationAssertion(Annotation( "MESH:D005150"^^xsd:string) "A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes."^^xsd:string) AnnotationAssertion( "MIM:141300"^^xsd:string) AnnotationAssertion( "MESH:D005150"^^xsd:string) AnnotationAssertion( "NCI:C116916"^^xsd:string) AnnotationAssertion( "NCI:C84703"^^xsd:string) AnnotationAssertion( "Facial Hemiatrophy of Romberg"^^xsd:string) AnnotationAssertion( "Hemifacial Atrophy"^^xsd:string) AnnotationAssertion( "Parry Romberg Disease"^^xsd:string) AnnotationAssertion( "Parry Romberg Syndrome"^^xsd:string) AnnotationAssertion( "Progressive Facial Hemiatrophies"^^xsd:string) AnnotationAssertion( "Progressive Facial Hemiatrophy"^^xsd:string) AnnotationAssertion( "Progressive Hemifacial Atrophies"^^xsd:string) AnnotationAssertion( "Progressive Hemifacial Atrophy"^^xsd:string) AnnotationAssertion( "Romberg Disease"^^xsd:string) AnnotationAssertion( "Romberg Facial Hemiatrophy"^^xsd:string) AnnotationAssertion( "Romberg Hemi Facial Atrophy"^^xsd:string) AnnotationAssertion( "Romberg's disease"^^xsd:string) AnnotationAssertion( "Rombergs disease"^^xsd:string) AnnotationAssertion( "facial hemiatrophies"^^xsd:string) AnnotationAssertion( "hemifacial atrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1757"^^xsd:string) AnnotationAssertion(rdfs:label "facial hemiatrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (American histoplasmosis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/16940867"^^xsd:string) "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B39.4"^^xsd:string) AnnotationAssertion( "ICD9CM:115.0"^^xsd:string) AnnotationAssertion( "RDO:9002329"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1759"^^xsd:string) AnnotationAssertion(rdfs:label "American histoplasmosis"^^xsd:string) SubClassOf( ) # Class: (cardiovascular cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=44005"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537144/"^^xsd:string) "An organ system cancer that located_in the heart and blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4784"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2007-0683"^^xsd:string) "cardiovascular neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4784"^^xsd:string) "cardiovascular tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:176"^^xsd:string) AnnotationAssertion(rdfs:label "cardiovascular cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (facial nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5827"^^xsd:string) AnnotationAssertion( "neoplasm of facial nerve"^^xsd:string) AnnotationAssertion( "tumor of facial nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1760"^^xsd:string) AnnotationAssertion(rdfs:label "facial nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (Melkersson-Rosenthal syndrome) AnnotationAssertion(Annotation( "MESH:D008556"^^xsd:string) "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)"^^xsd:string) AnnotationAssertion( "MIM:155900"^^xsd:string) AnnotationAssertion( "EFO:1001039"^^xsd:string) AnnotationAssertion( "GARD:7010"^^xsd:string) AnnotationAssertion( "ICD10CM:G51.2"^^xsd:string) AnnotationAssertion( "MESH:D008556"^^xsd:string) AnnotationAssertion( "NCI:C84886"^^xsd:string) AnnotationAssertion( "Cheilitis Granulomatosa"^^xsd:string) AnnotationAssertion( "Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema"^^xsd:string) AnnotationAssertion( "Granulomatous Cheilitis"^^xsd:string) AnnotationAssertion( "MROS"^^xsd:string) AnnotationAssertion( "MRS"^^xsd:string) AnnotationAssertion( "Macrocheilia, Facial Palsy, Edema"^^xsd:string) AnnotationAssertion( "Melkerson Rosenthal Syndrome"^^xsd:string) AnnotationAssertion( "Melkersson Rosenthal Miescher Syndrome"^^xsd:string) AnnotationAssertion( "Melkersson Syndrome"^^xsd:string) AnnotationAssertion( "Melkersson's syndrome"^^xsd:string) AnnotationAssertion( "Miescher Melkersson Rosenthal Granulomatous Cheilitis"^^xsd:string) AnnotationAssertion( "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1761"^^xsd:string) AnnotationAssertion(rdfs:label "Melkersson-Rosenthal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cheilitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cheilitis"^^xsd:string) "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002613"^^xsd:string) AnnotationAssertion( "NCI:C79545"^^xsd:string) AnnotationAssertion( "cheilitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1762"^^xsd:string) AnnotationAssertion(rdfs:label "cheilitis"^^xsd:string) SubClassOf( ) # Class: (factitious disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Factitious_disorder"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx"^^xsd:string) "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009110"^^xsd:string) AnnotationAssertion( "ICD9CM:300.16"^^xsd:string) AnnotationAssertion( "MESH:D005162"^^xsd:string) AnnotationAssertion( "Hospital Addiction Syndrome"^^xsd:string) AnnotationAssertion( "Munchausen syndrome"^^xsd:string) AnnotationAssertion( "Munchhausen Syndrome"^^xsd:string) AnnotationAssertion( "factitious disorders"^^xsd:string) AnnotationAssertion( "hospital-addiction syndromes"^^xsd:string) AnnotationAssertion( "pseudodementia"^^xsd:string) AnnotationAssertion( "pseudopsychosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1766"^^xsd:string) AnnotationAssertion(rdfs:label "factitious disorder"^^xsd:string) SubClassOf( ) # Class: (conversion disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conversion_disorder"^^xsd:string) "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6191"^^xsd:string) AnnotationAssertion( "ICD10CM:F44"^^xsd:string) AnnotationAssertion( "ICD9CM:300.11"^^xsd:string) AnnotationAssertion( "MESH:D003291"^^xsd:string) AnnotationAssertion( "Conversion Hysteria"^^xsd:string) AnnotationAssertion( "Conversion Hysterias"^^xsd:string) AnnotationAssertion( "Conversion Hysterical Neurosis"^^xsd:string) AnnotationAssertion( "Conversion Reaction"^^xsd:string) AnnotationAssertion( "Conversion Reactions"^^xsd:string) AnnotationAssertion( "astasia abasia"^^xsd:string) AnnotationAssertion( "conversion disorders"^^xsd:string) AnnotationAssertion( "conversion hysteria or reaction"^^xsd:string) AnnotationAssertion( "globus hystericus"^^xsd:string) AnnotationAssertion( "hysterical neurosis, conversion type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1768"^^xsd:string) AnnotationAssertion(rdfs:label "conversion disorder"^^xsd:string) SubClassOf( ) # Class: (toxic megacolon) AnnotationAssertion(Annotation( "MESH:D008532"^^xsd:string) "An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS."^^xsd:string) AnnotationAssertion( "ICD10CM:K59.31"^^xsd:string) AnnotationAssertion( "MESH:D008532"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1770"^^xsd:string) AnnotationAssertion(rdfs:label "toxic megacolon"^^xsd:string) SubClassOf( ) # Class: (labyrinthine unilateral reactive loss) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.55"^^xsd:string) AnnotationAssertion( "unilateral loss of labyrinthine reactivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1776"^^xsd:string) AnnotationAssertion(rdfs:label "labyrinthine unilateral reactive loss"^^xsd:string) SubClassOf( ) # Class: (unilateral hyperactive labyrinth) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.51"^^xsd:string) AnnotationAssertion( "hyperactive unilateral labyrinthine dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1777"^^xsd:string) AnnotationAssertion(rdfs:label "unilateral hyperactive labyrinth"^^xsd:string) SubClassOf( ) # Class: (vascular disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vascular_disease"^^xsd:string) "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004264"^^xsd:string) AnnotationAssertion( "EFO:0005753"^^xsd:string) AnnotationAssertion( "ICD10CM:I72.9"^^xsd:string) AnnotationAssertion( "ICD9CM:442.9"^^xsd:string) AnnotationAssertion( "MESH:D014652"^^xsd:string) AnnotationAssertion( "NCI:C26693"^^xsd:string) AnnotationAssertion( "NCI:C35117"^^xsd:string) AnnotationAssertion( "vascular diseases"^^xsd:string) AnnotationAssertion( "vascular tissue disease"^^xsd:string) AnnotationAssertion( "ocular vascular disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:178"^^xsd:string) AnnotationAssertion(rdfs:label "vascular disease"^^xsd:string) SubClassOf( ) # Class: (thyroid cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thyroid_gland"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35288841/"^^xsd:string) "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C73"^^xsd:string) AnnotationAssertion( "ICD9CM:193"^^xsd:string) AnnotationAssertion( "NCI:C3414"^^xsd:string) AnnotationAssertion( "NCI:C7510"^^xsd:string) AnnotationAssertion( "cancer of the thyroid"^^xsd:string) AnnotationAssertion( "cancer of thyroid"^^xsd:string) AnnotationAssertion( "malignant neoplasm of thyroid gland"^^xsd:string) AnnotationAssertion( "malignant tumour of thyroid gland"^^xsd:string) AnnotationAssertion( "thyroid cancers"^^xsd:string) AnnotationAssertion( "thyroid gland cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1781"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pituitary_gland"^^xsd:string) "An endocrine gland cancer located_in the pituitary gland located at the base of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005578"^^xsd:string) AnnotationAssertion( "GARD:9371"^^xsd:string) AnnotationAssertion( "ICD10CM:C75.1"^^xsd:string) AnnotationAssertion( "NCI:C3330"^^xsd:string) AnnotationAssertion( "NCI:C4769"^^xsd:string) AnnotationAssertion( "cancer of pituitary"^^xsd:string) AnnotationAssertion( "cancer of the pituitary"^^xsd:string) AnnotationAssertion( "malignant pituitary neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of pituitary gland"^^xsd:string) AnnotationAssertion( "pituitary cancers"^^xsd:string) AnnotationAssertion( "pituitary gland cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1785"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal rest tumor) AnnotationAssertion(Annotation( "MESH:D000314"^^xsd:string) "Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion."^^xsd:string) AnnotationAssertion( "EFO:1000798"^^xsd:string) AnnotationAssertion( "ICDO:8671/0"^^xsd:string) AnnotationAssertion( "MESH:D000314"^^xsd:string) AnnotationAssertion( "NCI:C2860"^^xsd:string) AnnotationAssertion( "adrenal cortical rest tumor"^^xsd:string) AnnotationAssertion( "adrenal rest neoplasm"^^xsd:string) AnnotationAssertion( "adrenal rest tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1786"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal rest tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pericarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pericarditis"^^xsd:string) "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007427"^^xsd:string) AnnotationAssertion( "MESH:D010493"^^xsd:string) AnnotationAssertion( "NCI:C34915"^^xsd:string) AnnotationAssertion( "pleuropericarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1787"^^xsd:string) AnnotationAssertion(rdfs:label "pericarditis"^^xsd:string) SubClassOf( ) # Class: (peritoneal mesothelioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string) "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005567"^^xsd:string) AnnotationAssertion( "EFO:1000467"^^xsd:string) AnnotationAssertion( "EFO:1000468"^^xsd:string) AnnotationAssertion( "EFO:1000469"^^xsd:string) AnnotationAssertion( "ICD10CM:C45.1"^^xsd:string) AnnotationAssertion( "NCI:C8704"^^xsd:string) AnnotationAssertion( "NCI:C9350"^^xsd:string) AnnotationAssertion( "MALIGNANT PERITONEAL MESOTHELIOMA"^^xsd:string) AnnotationAssertion( "advanced malignant mesothelioma of peritoneum"^^xsd:string) AnnotationAssertion( "advanced malignant peritoneal mesothelioma"^^xsd:string) AnnotationAssertion( "malignant mesothelioma of peritoneum"^^xsd:string) AnnotationAssertion( "Peritoneal Multicystic Mesothelioma"^^xsd:string) AnnotationAssertion( "Peritoneal Well Differentiated Papillary Mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1788"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (benign peritoneal mesothelioma) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7633"^^xsd:string) AnnotationAssertion( "mesothelioma of peritoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1789"^^xsd:string) AnnotationAssertion(rdfs:label "benign peritoneal mesothelioma"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (malignant mesothelioma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/Mesothelioma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44323"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/mesothelioma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string) "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156240"^^xsd:string) AnnotationAssertion( "EFO:1000355"^^xsd:string) AnnotationAssertion( "MESH:D000086002"^^xsd:string) AnnotationAssertion( "NCI:C27926"^^xsd:string) AnnotationAssertion( "NCI:C4456"^^xsd:string) AnnotationAssertion( "NCI:C60453"^^xsd:string) AnnotationAssertion( "NCI:C7865"^^xsd:string) AnnotationAssertion( "NCI:C8420"^^xsd:string) AnnotationAssertion( "MESOM"^^xsd:string) AnnotationAssertion( "advanced malignant mesothelioma"^^xsd:string) AnnotationAssertion( "asbestos-related malignant mesothelioma"^^xsd:string) AnnotationAssertion( "diffuse malignant mesothelioma"^^xsd:string) AnnotationAssertion( "malignant tumor of mesothelium"^^xsd:string) AnnotationAssertion( "somatic mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1790"^^xsd:string) AnnotationAssertion(rdfs:label "malignant mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peritoneal carcinoma) AnnotationAssertion(Annotation( "https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html"^^xsd:string) "A peritoneum cancer that is located_in the inside of the abdomen. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40022"^^xsd:string) AnnotationAssertion( "ORDO:168829"^^xsd:string) AnnotationAssertion( "primary peritoneal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1791"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreas lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5714"^^xsd:string) AnnotationAssertion( "lymphoma of pancreas"^^xsd:string) AnnotationAssertion( "pancreatic lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1792"^^xsd:string) AnnotationAssertion(rdfs:label "pancreas lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pancreatic"^^xsd:string) "An endocrine gland cancer located_in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260350"^^xsd:string) AnnotationAssertion( "MIM:606856"^^xsd:string) AnnotationAssertion( "MIM:613347"^^xsd:string) AnnotationAssertion( "MIM:613348"^^xsd:string) AnnotationAssertion( "MIM:614320"^^xsd:string) AnnotationAssertion( "MIM:618680"^^xsd:string) AnnotationAssertion( "EFO:1000359"^^xsd:string) AnnotationAssertion( "GARD:9364"^^xsd:string) AnnotationAssertion( "ICD10CM:C25.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C25.1"^^xsd:string) AnnotationAssertion( "ICD10CM:C25.2"^^xsd:string) AnnotationAssertion( "ICD9CM:157.0"^^xsd:string) AnnotationAssertion( "ICD9CM:157.1"^^xsd:string) AnnotationAssertion( "ICD9CM:157.2"^^xsd:string) AnnotationAssertion( "ICD9CM:157.8"^^xsd:string) AnnotationAssertion( "MESH:D010190"^^xsd:string) AnnotationAssertion( "NCI:C3305"^^xsd:string) AnnotationAssertion( "ORDO:1333"^^xsd:string) AnnotationAssertion( "ORDO:217074"^^xsd:string) AnnotationAssertion( "cancer of pancreas"^^xsd:string) AnnotationAssertion( "cancer of the pancreas"^^xsd:string) AnnotationAssertion( "malignant neoplasm of body of pancreas"^^xsd:string) AnnotationAssertion( "malignant neoplasm of head of pancreas"^^xsd:string) AnnotationAssertion( "malignant neoplasm of tail of pancreas"^^xsd:string) AnnotationAssertion( "pancreas cancer"^^xsd:string) AnnotationAssertion( "pancreas cancers"^^xsd:string) AnnotationAssertion( "pancreatic cancer 3"^^xsd:string) AnnotationAssertion( "pancreatic cancers"^^xsd:string) AnnotationAssertion( "pancreatic tumor"^^xsd:string) AnnotationAssertion( "Ca body of pancreas"^^xsd:string) AnnotationAssertion( "Ca head of pancreas"^^xsd:string) AnnotationAssertion( "Ca tail of pancreas"^^xsd:string) AnnotationAssertion( "PALLD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PNCA1"^^xsd:string) AnnotationAssertion( "PNCA2"^^xsd:string) AnnotationAssertion( "PNCA3"^^xsd:string) AnnotationAssertion( "PNCA4"^^xsd:string) AnnotationAssertion( "PNCA5"^^xsd:string) AnnotationAssertion( "pancreatic cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "pancreatic cancer, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "pancreatic cancer, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "pancreatic cancer, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "pancreatic cancer, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "DOID:1793"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant exocrine pancreas neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430"^^xsd:string) "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4445"^^xsd:string) AnnotationAssertion( "NCI:C7430"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the exocrine pancreas"^^xsd:string) AnnotationAssertion( "malignant tumor of exocrine pancreas"^^xsd:string) AnnotationAssertion( "malignant tumour of exocrine pancreas"^^xsd:string) AnnotationAssertion( "pancreatic exocrine tumor"^^xsd:string) AnnotationAssertion( "pancreatic exocrine tumour"^^xsd:string) AnnotationAssertion( "tumor of exocrine pancreas"^^xsd:string) AnnotationAssertion( "tumour of exocrine pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1795"^^xsd:string) AnnotationAssertion(rdfs:label "malignant exocrine pancreas neoplasm"^^xsd:string) SubClassOf( ) # Class: (pancreas sarcoma) AnnotationAssertion(Annotation( "https://brief.land/rro/articles/5126.html"^^xsd:string) "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5715"^^xsd:string) AnnotationAssertion( "sarcoma of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1796"^^xsd:string) AnnotationAssertion(rdfs:label "pancreas sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic endocrine carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "An islet cell tumor that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007416"^^xsd:string) AnnotationAssertion( "EFO:0009140"^^xsd:string) AnnotationAssertion( "GARD:13034"^^xsd:string) AnnotationAssertion( "ICD9CM:157.4"^^xsd:string) AnnotationAssertion( "MESH:D018273"^^xsd:string) AnnotationAssertion( "NCI:C3770"^^xsd:string) AnnotationAssertion( "Islet Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Islet Cell Tumor, Malignant"^^xsd:string) AnnotationAssertion( "carcinoma of endocrine pancreas"^^xsd:string) AnnotationAssertion( "islet cell carcinomas"^^xsd:string) AnnotationAssertion( "malignant neoplasm of islets of Langerhans"^^xsd:string) AnnotationAssertion( "pancreatic neuroendocrine carcinoma"^^xsd:string) AnnotationAssertion( "METASTATIC PANCREATIC NEUROENDOCRINE TUMORS"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1798"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic endocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (islet cell tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Islets_of_Langerhans"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Neuroendocrine_tumor"^^xsd:string) "A pancreatic cancer that is located_in the pancreatic islet cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007331"^^xsd:string) AnnotationAssertion( "EFO:1000045"^^xsd:string) AnnotationAssertion( "ICD10CM:C25.4"^^xsd:string) AnnotationAssertion( "ICD10CM:D13.7"^^xsd:string) AnnotationAssertion( "NCI:C27031"^^xsd:string) AnnotationAssertion( "NCI:C27720"^^xsd:string) AnnotationAssertion( "NCI:C34050"^^xsd:string) AnnotationAssertion( "PanNET"^^xsd:string) AnnotationAssertion( "endocrine pancreas cancer"^^xsd:string) AnnotationAssertion( "islet cell neoplasm"^^xsd:string) AnnotationAssertion( "islet cell tumour"^^xsd:string) AnnotationAssertion( "islet of Langerhans tumor"^^xsd:string) AnnotationAssertion( "malignant pancreatic endocrine tumor"^^xsd:string) AnnotationAssertion( "malignant pancreatic endocrine tumour"^^xsd:string) AnnotationAssertion( "malignant tumor of endocrine pancreas"^^xsd:string) AnnotationAssertion( "malignant tumour of endocrine pancreas"^^xsd:string) AnnotationAssertion( "metastatic islet cell carcinoma"^^xsd:string) AnnotationAssertion( "pancreatic endocrine neoplasm"^^xsd:string) AnnotationAssertion( "pancreatic islet cell tumors"^^xsd:string) AnnotationAssertion( "pancreatic neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1799"^^xsd:string) AnnotationAssertion(rdfs:label "islet cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urinary system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string) "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009690"^^xsd:string) AnnotationAssertion( "MESH:D014570"^^xsd:string) AnnotationAssertion( "NCI:C27599"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE URINARY SYSTEM"^^xsd:string) AnnotationAssertion( "non-neoplastic urinary tract disease"^^xsd:string) AnnotationAssertion( "urinary tract disease"^^xsd:string) AnnotationAssertion( "urinary tract diseases"^^xsd:string) AnnotationAssertion( "urologic disease"^^xsd:string) AnnotationAssertion( "urologic diseases"^^xsd:string) AnnotationAssertion( "urological disease"^^xsd:string) AnnotationAssertion( "urological diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:18"^^xsd:string) AnnotationAssertion(rdfs:label "urinary system disease"^^xsd:string) SubClassOf( ) # Class: (ossifying fibroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ossifying_fibroma"^^xsd:string) "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007412"^^xsd:string) AnnotationAssertion( "ICDO:9262/0"^^xsd:string) AnnotationAssertion( "MESH:D018214"^^xsd:string) AnnotationAssertion( "NCI:C8422"^^xsd:string) AnnotationAssertion( "OSSIFYING FIBROMA OF THE JAW"^^xsd:string) AnnotationAssertion( "Ossifying Fibromas"^^xsd:string) AnnotationAssertion( "fibro-osteoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "peripheral ossifying fibroma"^^xsd:string) AnnotationAssertion( "DOID:180"^^xsd:string) AnnotationAssertion(rdfs:label "ossifying fibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neuroendocrine carcinoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132"^^xsd:string) "A carcinoma that derives_from neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000200"^^xsd:string) AnnotationAssertion( "EFO:1000444"^^xsd:string) AnnotationAssertion( "ICDO:8246/3"^^xsd:string) AnnotationAssertion( "MESH:D018278"^^xsd:string) AnnotationAssertion( "NCI:C3773"^^xsd:string) AnnotationAssertion( "neuroendocrine carcinomas"^^xsd:string) AnnotationAssertion( "Pancreatic Small Cell Neuroendocrine Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1800"^^xsd:string) AnnotationAssertion(rdfs:label "neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mononeuritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:355.9"^^xsd:string) AnnotationAssertion( "mononeuritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1802"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuritis) AnnotationAssertion(Annotation( "MESH:D009443"^^xsd:string) "A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA."^^xsd:string) AnnotationAssertion( "RDO:0006205"^^xsd:string) AnnotationAssertion( "MESH:D009443"^^xsd:string) AnnotationAssertion( "NCI:C116381"^^xsd:string) AnnotationAssertion( "Peripheral Neuritides"^^xsd:string) AnnotationAssertion( "Peripheral Neuritis"^^xsd:string) AnnotationAssertion( "Polyneuritides"^^xsd:string) AnnotationAssertion( "Polyneuritis"^^xsd:string) AnnotationAssertion( "Sensory Neuritides"^^xsd:string) AnnotationAssertion( "neuritides"^^xsd:string) AnnotationAssertion( "sensory neuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1803"^^xsd:string) AnnotationAssertion(rdfs:label "neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (reflex sympathetic dystrophy) AnnotationAssertion(Annotation( "MESH:D012019"^^xsd:string) "A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)"^^xsd:string) AnnotationAssertion( "MIM:604335"^^xsd:string) AnnotationAssertion( "RDO:0006467"^^xsd:string) AnnotationAssertion( "EFO:1001147"^^xsd:string) AnnotationAssertion( "ICD10CM:G90.5"^^xsd:string) AnnotationAssertion( "ICD9CM:337.2"^^xsd:string) AnnotationAssertion( "MESH:D012019"^^xsd:string) AnnotationAssertion( "NCI:C85042"^^xsd:string) AnnotationAssertion( "Algodystrophies"^^xsd:string) AnnotationAssertion( "Algodystrophy"^^xsd:string) AnnotationAssertion( "CPRS Type I"^^xsd:string) AnnotationAssertion( "CPRS Type Is"^^xsd:string) AnnotationAssertion( "Cervical Sympathetic Dystrophies"^^xsd:string) AnnotationAssertion( "Cervical Sympathetic Dystrophy"^^xsd:string) AnnotationAssertion( "RSD (Reflex Sympathetic Dystrophy)"^^xsd:string) AnnotationAssertion( "RSDs (Reflex Sympathetic Dystrophy)"^^xsd:string) AnnotationAssertion( "Reflex Sympathetic Dystrophies"^^xsd:string) AnnotationAssertion( "Reflex Sympathetic Dystrophy Syndrome"^^xsd:string) AnnotationAssertion( "Shoulder Hand Syndrome"^^xsd:string) AnnotationAssertion( "Shoulder-Hand Syndromes"^^xsd:string) AnnotationAssertion( "Sudek Atrophy"^^xsd:string) AnnotationAssertion( "Sudek's Atrophies"^^xsd:string) AnnotationAssertion( "Sudek's Atrophy"^^xsd:string) AnnotationAssertion( "Sudeks Atrophy"^^xsd:string) AnnotationAssertion( "Sympathetic Reflex Dystrophia"^^xsd:string) AnnotationAssertion( "Sympathetic Reflex Dystrophias"^^xsd:string) AnnotationAssertion( "algodystrophic syndrome"^^xsd:string) AnnotationAssertion( "type I complex regional pain syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1811"^^xsd:string) AnnotationAssertion(rdfs:label "reflex sympathetic dystrophy"^^xsd:string) SubClassOf( ) # Class: (calcinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Calcinosis"^^xsd:string) "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003837"^^xsd:string) AnnotationAssertion( "MESH:D002114"^^xsd:string) AnnotationAssertion( "NCI:C3672"^^xsd:string) AnnotationAssertion( "Microcalcification"^^xsd:string) AnnotationAssertion( "Microcalcifications"^^xsd:string) AnnotationAssertion( "Microcalcinoses"^^xsd:string) AnnotationAssertion( "Microcalcinosis"^^xsd:string) AnnotationAssertion( "Pathologic Calcification"^^xsd:string) AnnotationAssertion( "Tumoral Calcinoses"^^xsd:string) AnnotationAssertion( "calcinoses"^^xsd:string) AnnotationAssertion( "pathologically calcified structure"^^xsd:string) AnnotationAssertion( "tumoral calcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:182"^^xsd:string) AnnotationAssertion(rdfs:label "calcinosis"^^xsd:string) SubClassOf( ) # Class: (secondary lacrimal atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.15"^^xsd:string) AnnotationAssertion( "ICD9CM:375.14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1822"^^xsd:string) AnnotationAssertion(rdfs:label "secondary lacrimal atrophy"^^xsd:string) SubClassOf( ) # Class: (status epilepticus) AnnotationAssertion(Annotation( "MESH:D013226"^^xsd:string) "A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"^^xsd:string) AnnotationAssertion( "EFO:0008526"^^xsd:string) AnnotationAssertion( "GARD:10191"^^xsd:string) AnnotationAssertion( "MESH:D013226"^^xsd:string) AnnotationAssertion( "NCI:C85079"^^xsd:string) AnnotationAssertion( "Complex Partial Status Epilepticus"^^xsd:string) AnnotationAssertion( "Electrographic Status Epilepticus"^^xsd:string) AnnotationAssertion( "Generalized Convulsive Status Epilepticus"^^xsd:string) AnnotationAssertion( "Generalized Status Epilepticus"^^xsd:string) AnnotationAssertion( "Grand Mal Status Epilepticus"^^xsd:string) AnnotationAssertion( "Non Convulsive Status Epilepticus"^^xsd:string) AnnotationAssertion( "Petit Mal Status"^^xsd:string) AnnotationAssertion( "Simple Partial Status Epilepticus"^^xsd:string) AnnotationAssertion( "absence status"^^xsd:string) AnnotationAssertion( "grand mal status"^^xsd:string) AnnotationAssertion( "subclinical status epilepticus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1824"^^xsd:string) AnnotationAssertion(rdfs:label "status epilepticus"^^xsd:string) SubClassOf( ) # Class: (childhood absence epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Childhood_absence_epilepsy"^^xsd:string) "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C567002"^^xsd:string) AnnotationAssertion( "CACNA1H-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:D004832"^^xsd:string) AnnotationAssertion( "MIM:PS600131"^^xsd:string) AnnotationAssertion( "MONDO:0010826"^^xsd:string) AnnotationAssertion( "NCI:C128189"^^xsd:string) AnnotationAssertion( "NCI:C3023"^^xsd:string) AnnotationAssertion( "Atonic Absence Seizure"^^xsd:string) AnnotationAssertion( "Minor Epilepsy"^^xsd:string) AnnotationAssertion( "akinetic petit mal"^^xsd:string) AnnotationAssertion( "atonic absence seizures"^^xsd:string) AnnotationAssertion( "atypical absence epilepsy"^^xsd:string) AnnotationAssertion( "childhood absence epilepsies"^^xsd:string) AnnotationAssertion( "minor epilepsies"^^xsd:string) AnnotationAssertion( "petit mal convulsion"^^xsd:string) AnnotationAssertion( "petit mal epilepsies"^^xsd:string) AnnotationAssertion( "petit mal epilepsy"^^xsd:string) AnnotationAssertion( "petit mal seizure"^^xsd:string) AnnotationAssertion( "pykno epilepsy"^^xsd:string) AnnotationAssertion( "pykno-epilepsies"^^xsd:string) AnnotationAssertion( "pyknolepsies"^^xsd:string) AnnotationAssertion( "pyknolepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Epilepsy, Childhood Absence, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "DOID:1825"^^xsd:string) AnnotationAssertion(rdfs:label "childhood absence epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epilepsy) AnnotationAssertion(Annotation( "http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/epilepsy"^^xsd:string) "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000080485"^^xsd:string) AnnotationAssertion( "OMIA:001596"^^xsd:string) AnnotationAssertion( "EFO:0000474"^^xsd:string) AnnotationAssertion( "EFO:0009854"^^xsd:string) AnnotationAssertion( "ICD10CM:G40"^^xsd:string) AnnotationAssertion( "ICD9CM:345.9"^^xsd:string) AnnotationAssertion( "MESH:D004827"^^xsd:string) AnnotationAssertion( "MIM:PS617290"^^xsd:string) AnnotationAssertion( "NCI:C3020"^^xsd:string) AnnotationAssertion( "aura"^^xsd:string) AnnotationAssertion( "auras"^^xsd:string) AnnotationAssertion( "awakening epilepsy"^^xsd:string) AnnotationAssertion( "convulsions"^^xsd:string) AnnotationAssertion( "cryptogenic epilepsies"^^xsd:string) AnnotationAssertion( "cryptogenic epilepsy"^^xsd:string) AnnotationAssertion( "epilepsies"^^xsd:string) AnnotationAssertion( "epilepsy syndrome"^^xsd:string) AnnotationAssertion( "epileptic seizure"^^xsd:string) AnnotationAssertion( "epileptic seizures"^^xsd:string) AnnotationAssertion( "epileptic syndrome"^^xsd:string) AnnotationAssertion( "seizure"^^xsd:string) AnnotationAssertion( "seizure disorder"^^xsd:string) AnnotationAssertion( "seizure disorders"^^xsd:string) AnnotationAssertion( "seizures"^^xsd:string) AnnotationAssertion( "single seizure"^^xsd:string) AnnotationAssertion( "single seizures"^^xsd:string) AnnotationAssertion( "CHILDHOOD-ONSET EPILEPSY SYNDROME"^^xsd:string) AnnotationAssertion( "EPILEPSY, MITOCHONDRIAL"^^xsd:string) AnnotationAssertion( "INFANTILE EPILEPSY"^^xsd:string) AnnotationAssertion( "INTRACTABLE SEIZURE"^^xsd:string) AnnotationAssertion( "RARE EPILEPSY"^^xsd:string) AnnotationAssertion( "benign familial juvenile epilepsy"^^xsd:string) AnnotationAssertion( "rare genetic epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "sudden unexpected death in epilepsy"^^xsd:string) AnnotationAssertion( "DOID:1826"^^xsd:string) AnnotationAssertion(rdfs:label "epilepsy"^^xsd:string) SubClassOf( ) # Class: (idiopathic generalized epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epilepsy"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Generalized_epilepsy"^^xsd:string) "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600669"^^xsd:string) AnnotationAssertion( "MESH:C562694"^^xsd:string) AnnotationAssertion( "MIM:PS600669"^^xsd:string) AnnotationAssertion( "NCI:C3021"^^xsd:string) AnnotationAssertion( "EIG"^^xsd:string) AnnotationAssertion( "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10"^^xsd:string) AnnotationAssertion( "generalised epilepsy"^^xsd:string) AnnotationAssertion( "EIG1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:1827"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic generalized epilepsy"^^xsd:string) SubClassOf( ) # Class: (urethral stricture) AnnotationAssertion(Annotation( "MESH:D014525"^^xsd:string) "Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms."^^xsd:string) AnnotationAssertion( "ICD9CM:598.8"^^xsd:string) AnnotationAssertion( "MESH:D014525"^^xsd:string) AnnotationAssertion( "Anterior Urethral Stricture"^^xsd:string) AnnotationAssertion( "Posterior Urethral Stricture"^^xsd:string) AnnotationAssertion( "Posterior Urethral Strictures"^^xsd:string) AnnotationAssertion( "Urethral Stenoses"^^xsd:string) AnnotationAssertion( "Urethral Stenosis"^^xsd:string) AnnotationAssertion( "anterior urethral strictures"^^xsd:string) AnnotationAssertion( "urethral strictures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1829"^^xsd:string) AnnotationAssertion(rdfs:label "urethral stricture"^^xsd:string) SubClassOf( ) # Class: (mononeuritis multiplex) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7056"^^xsd:string) AnnotationAssertion( "ICD10CM:G58.7"^^xsd:string) AnnotationAssertion( "ICD9CM:354.5"^^xsd:string) AnnotationAssertion( "NCI:C70938"^^xsd:string) AnnotationAssertion( "mononeuropathy multiplex"^^xsd:string) AnnotationAssertion( "multifocal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1835"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuritis multiplex"^^xsd:string) SubClassOf( ) # Class: (diabetic ketoacidosis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000320.htm"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551"^^xsd:string) "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612227"^^xsd:string) AnnotationAssertion( "EFO:1000897"^^xsd:string) AnnotationAssertion( "ICD9CM:250.1"^^xsd:string) AnnotationAssertion( "MESH:D016883"^^xsd:string) AnnotationAssertion( "NCI:C50530"^^xsd:string) AnnotationAssertion( "Diabetic Acidosis"^^xsd:string) AnnotationAssertion( "KPD"^^xsd:string) AnnotationAssertion( "diabetic acidoses"^^xsd:string) AnnotationAssertion( "diabetic ketoacidoses"^^xsd:string) AnnotationAssertion( "diabetic ketoses"^^xsd:string) AnnotationAssertion( "diabetic ketosis"^^xsd:string) AnnotationAssertion( "ketosis-prone diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:1837"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic ketoacidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Menkes disease) AnnotationAssertion(Annotation( "MESH:D007706"^^xsd:string) "An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)"^^xsd:string) AnnotationAssertion( "MIM:309400"^^xsd:string) AnnotationAssertion( "OMIA:000640"^^xsd:string) AnnotationAssertion( "GARD:1521"^^xsd:string) AnnotationAssertion( "MESH:D007706"^^xsd:string) AnnotationAssertion( "NCI:C75486"^^xsd:string) AnnotationAssertion( "ORDO:565"^^xsd:string) AnnotationAssertion( "Kinky Hair Syndrome"^^xsd:string) AnnotationAssertion( "MK"^^xsd:string) AnnotationAssertion( "MNK"^^xsd:string) AnnotationAssertion( "Menkes kinky hair syndrome"^^xsd:string) AnnotationAssertion( "Menkes syndrome"^^xsd:string) AnnotationAssertion( "Menkes' diseases"^^xsd:string) AnnotationAssertion( "X-linked copper deficiency"^^xsd:string) AnnotationAssertion( "congenital hypocupremia"^^xsd:string) AnnotationAssertion( "congenital hypocupremias"^^xsd:string) AnnotationAssertion( "copper transport disease"^^xsd:string) AnnotationAssertion( "kinky hair disease"^^xsd:string) AnnotationAssertion( "kinky hair diseases"^^xsd:string) AnnotationAssertion( "steely hair disease"^^xsd:string) AnnotationAssertion( "steely hair diseases"^^xsd:string) AnnotationAssertion( "steely hair syndrome"^^xsd:string) AnnotationAssertion( "steely hair syndromes"^^xsd:string) AnnotationAssertion( "MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE"^^xsd:string) AnnotationAssertion( "MENKES DISEASE, MILD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1838"^^xsd:string) AnnotationAssertion(rdfs:label "Menkes disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bone cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/bone"^^xsd:string) "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000350"^^xsd:string) AnnotationAssertion( "NCI:C9343"^^xsd:string) AnnotationAssertion( "CA - bone cancer"^^xsd:string) AnnotationAssertion( "bone cancers"^^xsd:string) AnnotationAssertion( "cancer of bone"^^xsd:string) AnnotationAssertion( "cancer of the bone"^^xsd:string) AnnotationAssertion( "malignant bone neoplasm"^^xsd:string) AnnotationAssertion( "malignant bone tumour"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bone"^^xsd:string) AnnotationAssertion( "malignant osseous tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:184"^^xsd:string) AnnotationAssertion(rdfs:label "bone cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mononeuritis of upper limb) AnnotationAssertion( "ICD9CM:354.9"^^xsd:string) AnnotationAssertion( "upper limb mononeuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1844"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuritis of upper limb"^^xsd:string) SubClassOf( ) # Class: (cannabis dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cannabis_dependence"^^xsd:string) "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004218"^^xsd:string) AnnotationAssertion( "EFO:0007191"^^xsd:string) AnnotationAssertion( "ICD10CM:F12.2"^^xsd:string) AnnotationAssertion( "ICD9CM:304.3"^^xsd:string) AnnotationAssertion( "NCI:C34445"^^xsd:string) AnnotationAssertion( "RDO:9002647"^^xsd:string) AnnotationAssertion( "marijuana dependence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1849"^^xsd:string) AnnotationAssertion(rdfs:label "cannabis dependence"^^xsd:string) SubClassOf( ) # Class: (intrahepatic cholestasis) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000215.htm"^^xsd:string) "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. (DO)"^^xsd:string) AnnotationAssertion( "ATP8B1-related"^^xsd:string) AnnotationAssertion( "GARD:10214"^^xsd:string) AnnotationAssertion( "MESH:D002780"^^xsd:string) AnnotationAssertion( "NCI:C84400"^^xsd:string) AnnotationAssertion( "ORDO:284385"^^xsd:string) AnnotationAssertion( "Intrahepatic Biliary Stases"^^xsd:string) AnnotationAssertion( "Intrahepatic Biliary Stasis"^^xsd:string) AnnotationAssertion( "intrahepatic bile duct obstruction"^^xsd:string) AnnotationAssertion( "intrahepatic cholestases"^^xsd:string) AnnotationAssertion( "neonatal intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "familial intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "progressive intrahepatic cholestasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1852"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic cholestasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cherubism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10364528"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11381256"^^xsd:string) "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004150"^^xsd:string) AnnotationAssertion( "GARD:6036"^^xsd:string) AnnotationAssertion( "MESH:D002636"^^xsd:string) AnnotationAssertion( "MIM:118400"^^xsd:string) AnnotationAssertion( "MONDO:0007315"^^xsd:string) AnnotationAssertion( "NCI:C84630"^^xsd:string) AnnotationAssertion( "CRBM"^^xsd:string) AnnotationAssertion( "familial benign giant-cell tumor of the jaw"^^xsd:string) AnnotationAssertion( "familial fibrous dysplasia of jaw"^^xsd:string) AnnotationAssertion( "familial multilocular cystic disease of the jaws"^^xsd:string) AnnotationAssertion( "fibrous dysplasia of jaw"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1856"^^xsd:string) AnnotationAssertion(rdfs:label "cherubism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (McCune Albright syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK537092/"^^xsd:string) "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:174800"^^xsd:string) AnnotationAssertion( "GARD:6995"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.1"^^xsd:string) AnnotationAssertion( "ICD9CM:756.54"^^xsd:string) AnnotationAssertion( "MESH:D005359"^^xsd:string) AnnotationAssertion( "NCI:C34610"^^xsd:string) AnnotationAssertion( "NCI:C48627"^^xsd:string) AnnotationAssertion( "Albright syndrome"^^xsd:string) AnnotationAssertion( "Albright's disease"^^xsd:string) AnnotationAssertion( "Albright's disease of bone"^^xsd:string) AnnotationAssertion( "Albright's syndrome"^^xsd:string) AnnotationAssertion( "Albright's syndrome with precocious puberty"^^xsd:string) AnnotationAssertion( "Albright-Mccune-Sternberg syndrome"^^xsd:string) AnnotationAssertion( "Albright-Sternberg syndrome"^^xsd:string) AnnotationAssertion( "MAS"^^xsd:string) AnnotationAssertion( "fibrous dysplasia of bone"^^xsd:string) AnnotationAssertion( "fibrous dysplasia with pigmentary skin changes and precocious puberty"^^xsd:string) AnnotationAssertion( "osteitis fibrosa disseminata"^^xsd:string) AnnotationAssertion( "polyostotic fibrous dysplasia"^^xsd:string) AnnotationAssertion( "polyostotic fibrous dysplasias"^^xsd:string) AnnotationAssertion( "PFD"^^xsd:string) AnnotationAssertion( "POFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1858"^^xsd:string) AnnotationAssertion(rdfs:label "McCune Albright syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (jaw cancer) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/jaw-tumors-cysts/symptoms-causes/syc-20350973"^^xsd:string) "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007333"^^xsd:string) AnnotationAssertion( "cancer of jaw"^^xsd:string) AnnotationAssertion( "cancer of the jaw"^^xsd:string) AnnotationAssertion( "jaw cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1862"^^xsd:string) AnnotationAssertion(rdfs:label "jaw cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skull cancer) AnnotationAssertion( "NCI:C3375"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1863"^^xsd:string) AnnotationAssertion(rdfs:label "skull cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (giant cell reparative granuloma) AnnotationAssertion( "EFO:1000950"^^xsd:string) AnnotationAssertion( "ICD10CM:M27.1"^^xsd:string) AnnotationAssertion( "ICD9CM:526.3"^^xsd:string) AnnotationAssertion( "NCI:C173930"^^xsd:string) AnnotationAssertion( "central giant cell granuloma"^^xsd:string) AnnotationAssertion( "central giant cell reparative granuloma"^^xsd:string) AnnotationAssertion( "central giant cell reparative granuloma of jaw"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1866"^^xsd:string) AnnotationAssertion(rdfs:label "giant cell reparative granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic rheumatic pericarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I09.2"^^xsd:string) AnnotationAssertion( "ICD9CM:393"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1869"^^xsd:string) AnnotationAssertion(rdfs:label "chronic rheumatic pericarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (impotence) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776"^^xsd:string) "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004234"^^xsd:string) AnnotationAssertion( "MESH:D007172"^^xsd:string) AnnotationAssertion( "NCI:C3133"^^xsd:string) AnnotationAssertion( "erectile dysfunction"^^xsd:string) AnnotationAssertion( "male impotence"^^xsd:string) AnnotationAssertion( "male sexual impotence"^^xsd:string) AnnotationAssertion( "sexual impotence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1875"^^xsd:string) AnnotationAssertion(rdfs:label "impotence"^^xsd:string) SubClassOf( ) # Class: (sexual dysfunction) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction"^^xsd:string) "A male reproductive system disease that is characterized by disturbances in sexual desire or performance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004714"^^xsd:string) AnnotationAssertion( "EFO:0006322"^^xsd:string) AnnotationAssertion( "ICD10CM:F52.9"^^xsd:string) AnnotationAssertion( "ICD10CM:R37"^^xsd:string) AnnotationAssertion( "MESH:D012735"^^xsd:string) AnnotationAssertion( "NCI:C3347"^^xsd:string) AnnotationAssertion( "Physiological Sexual Disorder"^^xsd:string) AnnotationAssertion( "physiological sexual disorders"^^xsd:string) AnnotationAssertion( "physiological sexual dysfunction"^^xsd:string) AnnotationAssertion( "physiological sexual dysfunctions"^^xsd:string) AnnotationAssertion( "sex disorders"^^xsd:string) AnnotationAssertion( "antidepressant-induced sexual dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1876"^^xsd:string) AnnotationAssertion(rdfs:label "sexual dysfunction"^^xsd:string) SubClassOf( ) # Class: (atrial heart septal defect) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Atrial_septal_defect"^^xsd:string) "A heart septal defect located_in in the septum that separates the two atria of the heart. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000825"^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.1"^^xsd:string) AnnotationAssertion( "MESH:D006344"^^xsd:string) AnnotationAssertion( "MIM:PS108800"^^xsd:string) AnnotationAssertion( "NCI:C84473"^^xsd:string) AnnotationAssertion( "ORDO:1478"^^xsd:string) AnnotationAssertion( "Atrial Septal Defect"^^xsd:string) AnnotationAssertion( "Ostium Secundum Atrial Septal Defect"^^xsd:string) AnnotationAssertion( "atrial septal defects"^^xsd:string) AnnotationAssertion( "atrioseptal defect"^^xsd:string) AnnotationAssertion( "auricular septal defect"^^xsd:string) AnnotationAssertion( "congenital atrial septal defect"^^xsd:string) AnnotationAssertion( "interatrial septal defect"^^xsd:string) AnnotationAssertion( "interauricular septal defect"^^xsd:string) AnnotationAssertion( "persistent ostium primum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1882"^^xsd:string) AnnotationAssertion(rdfs:label "atrial heart septal defect"^^xsd:string) SubClassOf( ) # Class: (hepatitis C) AnnotationAssertion(Annotation( "http://www.cdc.gov/hepatitis/HCV/index.htm"^^xsd:string) Annotation( "http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string) Annotation( "http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf"^^xsd:string) "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609532"^^xsd:string) AnnotationAssertion( "EFO:0003047"^^xsd:string) AnnotationAssertion( "ICD10CM:B19.20"^^xsd:string) AnnotationAssertion( "ICD9CM:070.7"^^xsd:string) AnnotationAssertion( "MESH:D006526"^^xsd:string) AnnotationAssertion( "NCI:C3098"^^xsd:string) AnnotationAssertion( "NANBH"^^xsd:string) AnnotationAssertion( "PT-NANBH"^^xsd:string) AnnotationAssertion( "chronic hepatitis C"^^xsd:string) AnnotationAssertion( "hepatitis C infection"^^xsd:string) AnnotationAssertion( "hepatitis nonA nonB"^^xsd:string) AnnotationAssertion( "parenterally transmitted non A, non B hepatitis"^^xsd:string) AnnotationAssertion( "parenterally-transmitted viral hepatitis, non-A, non-B"^^xsd:string) AnnotationAssertion( "viral hepatitis C"^^xsd:string) AnnotationAssertion( "HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "HCV, resistance to"^^xsd:string) AnnotationAssertion( "HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF"^^xsd:string) AnnotationAssertion( "hepatitis C virus, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1883"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (viral hepatitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/HEPATITIS/"^^xsd:string) "A hepatitis that involves viral infection causing inflammation of the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "viral hepatitis with hepatic coma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:1884"^^xsd:string) AnnotationAssertion(rdfs:label "viral hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic nerve disease) AnnotationAssertion(Annotation( "http://www.academy.org.uk/lectures/barnard3.htm"^^xsd:string) Annotation( "http://www.nature.com/eye/journal/v18/n11/full/6701575a.html"^^xsd:string) "A cranial nerve disease that is located_in the optic nerve. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009901"^^xsd:string) AnnotationAssertion( "NCI:C79698"^^xsd:string) AnnotationAssertion( "Neural Optical Lesion"^^xsd:string) AnnotationAssertion( "Optic Disk Disorder"^^xsd:string) AnnotationAssertion( "Optic Disk Disorders"^^xsd:string) AnnotationAssertion( "cranial nerve II diseases"^^xsd:string) AnnotationAssertion( "cranial nerve II disorder"^^xsd:string) AnnotationAssertion( "disorder of the second nerve"^^xsd:string) AnnotationAssertion( "neural-optical lesions"^^xsd:string) AnnotationAssertion( "optic nerve diseases"^^xsd:string) AnnotationAssertion( "optic nerve disorder"^^xsd:string) AnnotationAssertion( "optic neuropathies"^^xsd:string) AnnotationAssertion( "optic neuropathy"^^xsd:string) AnnotationAssertion( "second cranial nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1891"^^xsd:string) AnnotationAssertion(rdfs:label "optic nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eczematous dermatitis of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.13"^^xsd:string) AnnotationAssertion( "ICD9CM:373.31"^^xsd:string) AnnotationAssertion( "RDO:9003500"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1893"^^xsd:string) AnnotationAssertion(rdfs:label "eczematous dermatitis of eyelid"^^xsd:string) SubClassOf( ) # Class: (noninfectious dermatoses of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.1"^^xsd:string) AnnotationAssertion( "ICD9CM:373.3"^^xsd:string) AnnotationAssertion( "non-infected eyelid dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1894"^^xsd:string) AnnotationAssertion(rdfs:label "noninfectious dermatoses of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (allergic contact dermatitis of eyelid) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Allergic_contact_dermatitis"^^xsd:string) "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:373.32"^^xsd:string) AnnotationAssertion( "contact and allergic dermatitis of eyelid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1895"^^xsd:string) AnnotationAssertion(rdfs:label "allergic contact dermatitis of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sigmoid neoplasm) AnnotationAssertion( "Tumors or cancer of the SIGMOID COLON."^^xsd:string) AnnotationAssertion( "EFO:1001181"^^xsd:string) AnnotationAssertion( "MESH:D012811"^^xsd:string) AnnotationAssertion( "Sigmoid Cancer"^^xsd:string) AnnotationAssertion( "Sigmoidal Cancer"^^xsd:string) AnnotationAssertion( "cancer of sigmoid"^^xsd:string) AnnotationAssertion( "cancer of the sigmoid"^^xsd:string) AnnotationAssertion( "neoplasm of sigmoid colon"^^xsd:string) AnnotationAssertion( "sigmoid colon cancer"^^xsd:string) AnnotationAssertion( "sigmoid colon neoplasm"^^xsd:string) AnnotationAssertion( "sigmoid colon neoplasms"^^xsd:string) AnnotationAssertion( "sigmoid colon tumor"^^xsd:string) AnnotationAssertion( "sigmoid neoplasms"^^xsd:string) AnnotationAssertion( "tumor of sigmoid colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1896"^^xsd:string) AnnotationAssertion(rdfs:label "sigmoid neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sigmoid disease) AnnotationAssertion(Annotation( "MESH:D012810"^^xsd:string) "Pathological processes in the SIGMOID COLON region of the large intestine (INTESTINE, LARGE)."^^xsd:string) AnnotationAssertion( "MESH:D012810"^^xsd:string) AnnotationAssertion( "Sigmoid Colon Disease"^^xsd:string) AnnotationAssertion( "Sigmoid Colon Diseases"^^xsd:string) AnnotationAssertion( "sigmoid diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1897"^^xsd:string) AnnotationAssertion(rdfs:label "sigmoid disease"^^xsd:string) SubClassOf( ) # Class: (vagina sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21816677"^^xsd:string) "A vaginal cancer that has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7737"^^xsd:string) AnnotationAssertion( "sarcoma of the vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1901"^^xsd:string) AnnotationAssertion(rdfs:label "vagina sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant skin fibrous histiocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000212"^^xsd:string) AnnotationAssertion( "NCI:C27394"^^xsd:string) AnnotationAssertion( "NCI:C5576"^^xsd:string) AnnotationAssertion( "cutaneous malignant fibrous histiocytoma"^^xsd:string) AnnotationAssertion( "cutaneous unclassified pleomorphic sarcoma"^^xsd:string) AnnotationAssertion( "cutaneous undifferentiated pleomorphic sarcoma"^^xsd:string) AnnotationAssertion( "malignant fibrous histiocytoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1906"^^xsd:string) AnnotationAssertion(rdfs:label "malignant skin fibrous histiocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant fibrous histiocytoma) AnnotationAssertion(Annotation( "MESH:D051677"^^xsd:string) "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade."^^xsd:string) AnnotationAssertion( "EFO:1001972"^^xsd:string) AnnotationAssertion( "ICDO:8830/3"^^xsd:string) AnnotationAssertion( "MESH:D051677"^^xsd:string) AnnotationAssertion( "NCI:C4247"^^xsd:string) AnnotationAssertion( "NCI:C60442"^^xsd:string) AnnotationAssertion( "Fibroxanthosarcoma"^^xsd:string) AnnotationAssertion( "MFH"^^xsd:string) AnnotationAssertion( "malignant fibrohistiocytic tumor"^^xsd:string) AnnotationAssertion( "malignant fibrohistiocytic tumors"^^xsd:string) AnnotationAssertion( "malignant fibrous histiocytomas"^^xsd:string) AnnotationAssertion( "malignant fibroxanthoma"^^xsd:string) AnnotationAssertion( "pleomorphic malignant fibrous histiocytoma"^^xsd:string) AnnotationAssertion( "undifferentiated pleomorphic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1907"^^xsd:string) AnnotationAssertion(rdfs:label "malignant fibrous histiocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (melanoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Melanoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22123420"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000756"^^xsd:string) AnnotationAssertion( "EFO:1000397"^^xsd:string) AnnotationAssertion( "MESH:D008545"^^xsd:string) AnnotationAssertion( "NCI:C120298"^^xsd:string) AnnotationAssertion( "NCI:C21790"^^xsd:string) AnnotationAssertion( "NCI:C3224"^^xsd:string) AnnotationAssertion( "NCI:C60451"^^xsd:string) AnnotationAssertion( "Malignant Melanoma"^^xsd:string) AnnotationAssertion( "Malignant Melanoma, Somatic"^^xsd:string) AnnotationAssertion( "malignant melanomas"^^xsd:string) AnnotationAssertion( "melanomas"^^xsd:string) AnnotationAssertion( "naevocarcinoma"^^xsd:string) AnnotationAssertion( "Non-Cutaneous Melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Albumin Nagano"^^xsd:string) AnnotationAssertion( "Albumin Oliphant"^^xsd:string) AnnotationAssertion( "Albumin Osaka 2"^^xsd:string) AnnotationAssertion( "Albumin Phnom Penh"^^xsd:string) AnnotationAssertion( "Albumin Verona B"^^xsd:string) AnnotationAssertion( "MALIGNANT MELANOMA SUSCEPTIBILITY"^^xsd:string) AnnotationAssertion( "albumin B"^^xsd:string) AnnotationAssertion( "DOID:1909"^^xsd:string) AnnotationAssertion(rdfs:label "melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal yolk sac tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30814243"^^xsd:string) "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6379"^^xsd:string) AnnotationAssertion( "RDO:9004610"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6379"^^xsd:string) "vaginal Yolk Sac neoplasm"^^xsd:string) AnnotationAssertion( "vaginal endodermal sinus neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1910"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (endodermal sinus tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876"^^xsd:string) Annotation( "https://www.cincinnatichildrens.org/health/y/yolk-sac/"^^xsd:string) "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007252"^^xsd:string) AnnotationAssertion( "ICDO:9071/3"^^xsd:string) AnnotationAssertion( "MESH:D018240"^^xsd:string) AnnotationAssertion( "NCI:C3011"^^xsd:string) AnnotationAssertion( "endodermal sinus tumors"^^xsd:string) AnnotationAssertion( "endodermal sinus tumour"^^xsd:string) AnnotationAssertion( "hepatoid yolk sac tumour"^^xsd:string) AnnotationAssertion( "infantile embryonal carcinoma"^^xsd:string) AnnotationAssertion( "yolk sac neoplasm"^^xsd:string) AnnotationAssertion( "yolk sac tumor"^^xsd:string) AnnotationAssertion( "yolk sac tumors"^^xsd:string) AnnotationAssertion( "yolk sac tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1911"^^xsd:string) AnnotationAssertion(rdfs:label "endodermal sinus tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lesch-Nyhan syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31182398/"^^xsd:string) "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. (DO)"^^xsd:string) AnnotationAssertion( "HPRT1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "ICD10CM:E79.1"^^xsd:string) AnnotationAssertion( "MESH:D007926"^^xsd:string) AnnotationAssertion( "MIM:300322"^^xsd:string) AnnotationAssertion( "MONDO:0010298"^^xsd:string) AnnotationAssertion( "NCI:C61255"^^xsd:string) AnnotationAssertion( "ORDO:510"^^xsd:string) AnnotationAssertion( "Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of Guanine Phosphoribosyltransferase"^^xsd:string) AnnotationAssertion( "Deficiency of Hypoxanthine Phosphoribosyltransferase"^^xsd:string) AnnotationAssertion( "Guanine Phosphoribosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "HG-PRT deficiency"^^xsd:string) AnnotationAssertion( "HGPRT Deficiencies"^^xsd:string) AnnotationAssertion( "HGPRT Deficiency"^^xsd:string) AnnotationAssertion( "HPRT DEFICIENCY"^^xsd:string) AnnotationAssertion( "HPRT1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency"^^xsd:string) AnnotationAssertion( "Hypoxanthine Guanine Phosphoribosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Hypoxanthine Phosphoribosyl Transferase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Hypoxanthine Phosphoribosyltransferase Deficiencies"^^xsd:string) AnnotationAssertion( "Hypoxanthine Phosphoribosyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases"^^xsd:string) AnnotationAssertion( "Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Juvenile Hyperuricemia Syndrome"^^xsd:string) AnnotationAssertion( "Juvenile Hyperuricemia Syndromes"^^xsd:string) AnnotationAssertion( "LNS"^^xsd:string) AnnotationAssertion( "Lesch Nyhan Disease"^^xsd:string) AnnotationAssertion( "Primary Hyperuricemia Syndrome"^^xsd:string) AnnotationAssertion( "X-linked hyperuricemia"^^xsd:string) AnnotationAssertion( "X-linked hyperuricemias"^^xsd:string) AnnotationAssertion( "X-linked primary hyperuricemia"^^xsd:string) AnnotationAssertion( "X-linked primary hyperuricemias"^^xsd:string) AnnotationAssertion( "choreoathetosis self mutilation hyperuricemia syndrome"^^xsd:string) AnnotationAssertion( "choreoathetosis self mutilation syndrome"^^xsd:string) AnnotationAssertion( "choreoathetosis self-mutilation syndromes"^^xsd:string) AnnotationAssertion( "complete HGPRT deficiency disease"^^xsd:string) AnnotationAssertion( "complete HPRT deficiencies"^^xsd:string) AnnotationAssertion( "complete HPRT deficiency"^^xsd:string) AnnotationAssertion( "deficiency of IMP pyrophosphorylase"^^xsd:string) AnnotationAssertion( "guanine phosphoribosyltransferase deficiencies"^^xsd:string) AnnotationAssertion( "primary hyperuricemia syndromes"^^xsd:string) AnnotationAssertion( "total HPRT deficiency"^^xsd:string) AnnotationAssertion( "total hypoxanthine guanine phosphoribosyl transferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HPRT CHERMSIDE"^^xsd:string) AnnotationAssertion( "HPRT CHICAGO"^^xsd:string) AnnotationAssertion( "HPRT CONNERSVILLE"^^xsd:string) AnnotationAssertion( "HPRT COORPAROO"^^xsd:string) AnnotationAssertion( "HPRT DETROIT"^^xsd:string) AnnotationAssertion( "HPRT EVANSVILLE"^^xsd:string) AnnotationAssertion( "HPRT FLINT"^^xsd:string) AnnotationAssertion( "HPRT Fujimi"^^xsd:string) AnnotationAssertion( "HPRT KINSTON"^^xsd:string) AnnotationAssertion( "HPRT MICHIGAN"^^xsd:string) AnnotationAssertion( "HPRT MIDLAND"^^xsd:string) AnnotationAssertion( "HPRT NEW BRITON"^^xsd:string) AnnotationAssertion( "HPRT NEW HAVEN"^^xsd:string) AnnotationAssertion( "HPRT PARIS"^^xsd:string) AnnotationAssertion( "HPRT TOKYO"^^xsd:string) AnnotationAssertion( "HPRT Yale"^^xsd:string) AnnotationAssertion( "DOID:1919"^^xsd:string) AnnotationAssertion(rdfs:label "Lesch-Nyhan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sex cord-gonadal stromal tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour"^^xsd:string) "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007483"^^xsd:string) AnnotationAssertion( "EFO:1000052"^^xsd:string) AnnotationAssertion( "ICDO:8590/1"^^xsd:string) AnnotationAssertion( "MESH:D018312"^^xsd:string) AnnotationAssertion( "NCI:C3794"^^xsd:string) AnnotationAssertion( "Sex Cord Stromal Tumor"^^xsd:string) AnnotationAssertion( "gynandroblastoma"^^xsd:string) AnnotationAssertion( "gynandroblastomas"^^xsd:string) AnnotationAssertion( "sex cord stromal tumour"^^xsd:string) AnnotationAssertion( "sex cord-gonadal stromal tumour"^^xsd:string) AnnotationAssertion( "sex cord-stromal neoplasm"^^xsd:string) AnnotationAssertion( "sex cord-stromal tumors"^^xsd:string) AnnotationAssertion( "specialized gonadal neoplasm"^^xsd:string) AnnotationAssertion( "specialized gonadal tumor"^^xsd:string) AnnotationAssertion( "specialized gonadal tumour"^^xsd:string) AnnotationAssertion( "malignant testicular sex cord-stromal tumor"^^xsd:string) AnnotationAssertion( "malignant testicular sex cord-stromal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:192"^^xsd:string) AnnotationAssertion(rdfs:label "sex cord-gonadal stromal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperuricemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperuricemia"^^xsd:string) "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009104"^^xsd:string) AnnotationAssertion( "MESH:D033461"^^xsd:string) AnnotationAssertion( "NCI:C3961"^^xsd:string) AnnotationAssertion( "blood urate raized"^^xsd:string) AnnotationAssertion( "uricacidemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1920"^^xsd:string) AnnotationAssertion(rdfs:label "hyperuricemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klinefelter syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/klinefelter-syndrome"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome"^^xsd:string) "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001006"^^xsd:string) AnnotationAssertion( "GARD:8705"^^xsd:string) AnnotationAssertion( "ICD10CM:Q98.0"^^xsd:string) AnnotationAssertion( "ICD9CM:758.7"^^xsd:string) AnnotationAssertion( "MESH:D007713"^^xsd:string) AnnotationAssertion( "NCI:C185635"^^xsd:string) AnnotationAssertion( "NCI:C34752"^^xsd:string) AnnotationAssertion( "47, XXY"^^xsd:string) AnnotationAssertion( "48,XXYY syndrome"^^xsd:string) AnnotationAssertion( "49,XXXXY Syndrome"^^xsd:string) AnnotationAssertion( "Hypogonadotropic Hypogonadism"^^xsd:string) AnnotationAssertion( "Klinefelter Syndrome, Variants"^^xsd:string) AnnotationAssertion( "Klinefelter Syndromes, Variants"^^xsd:string) AnnotationAssertion( "Klinefelter syndromes"^^xsd:string) AnnotationAssertion( "Klinefelter's syndrome"^^xsd:string) AnnotationAssertion( "Klinefelters syndrome"^^xsd:string) AnnotationAssertion( "XXXY Male"^^xsd:string) AnnotationAssertion( "XXXY Males"^^xsd:string) AnnotationAssertion( "XXY Syndrome"^^xsd:string) AnnotationAssertion( "XXY Syndromes"^^xsd:string) AnnotationAssertion( "XXY Trisomies"^^xsd:string) AnnotationAssertion( "XXY trisomy"^^xsd:string) AnnotationAssertion( "XXYY syndrome"^^xsd:string) AnnotationAssertion( "XXYY syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1921"^^xsd:string) AnnotationAssertion(rdfs:label "Klinefelter syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (disorder of sexual development) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/"^^xsd:string) "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012734"^^xsd:string) AnnotationAssertion( "NCI:C103186"^^xsd:string) AnnotationAssertion( "Disorders of Sex Development"^^xsd:string) AnnotationAssertion( "Genital Ambiguity"^^xsd:string) AnnotationAssertion( "Intersex Condition"^^xsd:string) AnnotationAssertion( "Intersexualities"^^xsd:string) AnnotationAssertion( "Intersexuality"^^xsd:string) AnnotationAssertion( "Sex Differentiation Disorder"^^xsd:string) AnnotationAssertion( "ambiguous genitalia"^^xsd:string) AnnotationAssertion( "disorder of sexual differentiation"^^xsd:string) AnnotationAssertion( "disorders of sexual development"^^xsd:string) AnnotationAssertion( "genital ambiguities"^^xsd:string) AnnotationAssertion( "intersex conditions"^^xsd:string) AnnotationAssertion( "sex development disorder"^^xsd:string) AnnotationAssertion( "sex development disorders"^^xsd:string) AnnotationAssertion( "sex differentiation disease"^^xsd:string) AnnotationAssertion( "sex differentiation disorders"^^xsd:string) AnnotationAssertion( "sexual development disorder"^^xsd:string) AnnotationAssertion( "sexual development disorders"^^xsd:string) AnnotationAssertion( "sexual differentiation disorder"^^xsd:string) AnnotationAssertion( "sexual differentiation disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1923"^^xsd:string) AnnotationAssertion(rdfs:label "disorder of sexual development"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypogonadism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypogonadism"^^xsd:string) "A gonadal disease that is characterized by diminished functional activity of the gonads. (DO)"^^xsd:string) AnnotationAssertion( "MIM:241100"^^xsd:string) AnnotationAssertion( "MESH:D007006"^^xsd:string) AnnotationAssertion( "NCI:C9227"^^xsd:string) AnnotationAssertion( "hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "isolated hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "nonsyndromic hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1924"^^xsd:string) AnnotationAssertion(rdfs:label "hypogonadism"^^xsd:string) SubClassOf( ) # Class: (Coffin-Siris syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465"^^xsd:string) "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536436"^^xsd:string) AnnotationAssertion( "GARD:6124"^^xsd:string) AnnotationAssertion( "MIM:PS135900"^^xsd:string) AnnotationAssertion( "NCI:C35321"^^xsd:string) AnnotationAssertion( "ORDO:1465"^^xsd:string) AnnotationAssertion( "CSS"^^xsd:string) AnnotationAssertion( "Coffin Siris/intellectual disability"^^xsd:string) AnnotationAssertion( "dwarfism-onychodysplasia"^^xsd:string) AnnotationAssertion( "fifth digit syndrome"^^xsd:string) AnnotationAssertion( "short stature-onychodysplasia."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1925"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Siris syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gaucher's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gaucher%27s_disease"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract"^^xsd:string) "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004721"^^xsd:string) AnnotationAssertion( "GARD:8233"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.22"^^xsd:string) AnnotationAssertion( "MESH:D005776"^^xsd:string) AnnotationAssertion( "MONDO:0018150"^^xsd:string) AnnotationAssertion( "NCI:C61268"^^xsd:string) AnnotationAssertion( "ORDO:355"^^xsd:string) AnnotationAssertion( "Chronic Gaucher Disease"^^xsd:string) AnnotationAssertion( "GBA Deficiency"^^xsd:string) AnnotationAssertion( "GBA deficiencies"^^xsd:string) AnnotationAssertion( "Gaucher Splenomegaly"^^xsd:string) AnnotationAssertion( "Gaucher Syndrome"^^xsd:string) AnnotationAssertion( "Gaucher disease"^^xsd:string) AnnotationAssertion( "Gauchers Disease"^^xsd:string) AnnotationAssertion( "Glucocerebrosidase Deficiencies"^^xsd:string) AnnotationAssertion( "Glucocerebrosidase Deficiency"^^xsd:string) AnnotationAssertion( "Glucocerebrosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Glucocerebrosidase Deficiency Diseases"^^xsd:string) AnnotationAssertion( "Glucocerebrosidoses"^^xsd:string) AnnotationAssertion( "Glucocerebrosidosis"^^xsd:string) AnnotationAssertion( "Glucosyl Cerebroside Lipidoses"^^xsd:string) AnnotationAssertion( "Glucosyl Cerebroside Lipidosis"^^xsd:string) AnnotationAssertion( "Glucosylceramidase Deficiency"^^xsd:string) AnnotationAssertion( "Glucosylceramide Beta-Glucosidase Deficiency"^^xsd:string) AnnotationAssertion( "Glucosylceramide Beta-Glucosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Glucosylceramide Lipidoses"^^xsd:string) AnnotationAssertion( "Glucosylceramide Lipidosis"^^xsd:string) AnnotationAssertion( "Infantile Gaucher Disease"^^xsd:string) AnnotationAssertion( "Kerasin Histiocytoses"^^xsd:string) AnnotationAssertion( "Kerasin Histiocytosis"^^xsd:string) AnnotationAssertion( "Kerasin Lipoidoses"^^xsd:string) AnnotationAssertion( "acid beta-glucosidase deficiency"^^xsd:string) AnnotationAssertion( "acid beta-glucosidase deficiency disease"^^xsd:string) AnnotationAssertion( "cerebroside lipidosis syndrome"^^xsd:string) AnnotationAssertion( "cerebroside lipidosis syndromes"^^xsd:string) AnnotationAssertion( "glocucerebrosidase deficiency"^^xsd:string) AnnotationAssertion( "kerasin lipoidosis"^^xsd:string) AnnotationAssertion( "kerasin thesaurismoses"^^xsd:string) AnnotationAssertion( "kerasin thesaurismosis"^^xsd:string) AnnotationAssertion( "lipoid histiocytoses (kerasin type)"^^xsd:string) AnnotationAssertion( "lipoid histiocytosis"^^xsd:string) AnnotationAssertion( "lipoid histiocytosis (kerasin type)"^^xsd:string) AnnotationAssertion( "neuronopathic Gaucher disease"^^xsd:string) AnnotationAssertion( "GAUCHER DISEASE, NORRBOTTNIAN TYPE"^^xsd:string) AnnotationAssertion( "GAUCHER DISEASE, TYPE IIIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1926"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher's disease"^^xsd:string) SubClassOf( ) # Class: (sphingolipidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sphingolipidoses"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28857617"^^xsd:string) "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7672"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.3"^^xsd:string) AnnotationAssertion( "MESH:D013106"^^xsd:string) AnnotationAssertion( "NCI:C117254"^^xsd:string) AnnotationAssertion( "sphingolipid storage disease"^^xsd:string) AnnotationAssertion( "sphingolipid storage diseases"^^xsd:string) AnnotationAssertion( "sphingolipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1927"^^xsd:string) AnnotationAssertion(rdfs:label "sphingolipidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Williams-Beuren syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/williams-syndrome"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/williams-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1249/"^^xsd:string) "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194050"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.82"^^xsd:string) AnnotationAssertion( "MESH:D018980"^^xsd:string) AnnotationAssertion( "NCI:C85232"^^xsd:string) AnnotationAssertion( "ORDO:904"^^xsd:string) AnnotationAssertion( "Beuren syndrome"^^xsd:string) AnnotationAssertion( "Fanconi Schlesinger syndrome"^^xsd:string) AnnotationAssertion( "WBS"^^xsd:string) AnnotationAssertion( "WMS"^^xsd:string) AnnotationAssertion( "WS"^^xsd:string) AnnotationAssertion( "Williams contiguous gene syndrome"^^xsd:string) AnnotationAssertion( "Williams syndrome"^^xsd:string) AnnotationAssertion( "chromosome 7q11.23 deletion syndrome"^^xsd:string) AnnotationAssertion( "chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-MB"^^xsd:string) AnnotationAssertion( "hypercalcemia supravalvar aortic stenosis"^^xsd:string) AnnotationAssertion( "hypercalcemia-supravalvar aortic stenoses"^^xsd:string) AnnotationAssertion( "supravalvar aortic stenosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1928"^^xsd:string) AnnotationAssertion(rdfs:label "Williams-Beuren syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (supravalvular aortic stenosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis"^^xsd:string) "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. (DO)"^^xsd:string) AnnotationAssertion( "MIM:185500"^^xsd:string) AnnotationAssertion( "ELN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:743"^^xsd:string) AnnotationAssertion( "ICD10CM:Q25.3"^^xsd:string) AnnotationAssertion( "MESH:D021921"^^xsd:string) AnnotationAssertion( "MONDO:0008504"^^xsd:string) AnnotationAssertion( "NCI:C85176"^^xsd:string) AnnotationAssertion( "ORDO:3193"^^xsd:string) AnnotationAssertion( "SVAS"^^xsd:string) AnnotationAssertion( "aortic supravalvular stenoses"^^xsd:string) AnnotationAssertion( "supra-valvular aortic stenosis"^^xsd:string) AnnotationAssertion( "supravalvar aortic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1929"^^xsd:string) AnnotationAssertion(rdfs:label "supravalvular aortic stenosis"^^xsd:string) SubClassOf( ) # Class: (reproductive organ cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers"^^xsd:string) "An organ system cancer that is manifested in the reproductive organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3674"^^xsd:string) AnnotationAssertion( "cancer of reproductive system"^^xsd:string) AnnotationAssertion( "malignant reproductive system neoplasm"^^xsd:string) AnnotationAssertion( "reproductive tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:193"^^xsd:string) AnnotationAssertion(rdfs:label "reproductive organ cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laurence-Moon syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25480986"^^xsd:string) "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:245800"^^xsd:string) AnnotationAssertion( "GARD:12635"^^xsd:string) AnnotationAssertion( "MESH:D007849"^^xsd:string) AnnotationAssertion( "NCI:C34760"^^xsd:string) AnnotationAssertion( "ORDO:2377"^^xsd:string) AnnotationAssertion( "LNMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Laurence Moon Biedl syndrome"^^xsd:string) AnnotationAssertion( "DOID:1930"^^xsd:string) AnnotationAssertion(rdfs:label "Laurence-Moon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypothalamic disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypothalamic_disease"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/002380.htm"^^xsd:string) "A brain disease located_in the hypothalamus. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007027"^^xsd:string) AnnotationAssertion( "Hypothalamic Dysfunction Syndrome"^^xsd:string) AnnotationAssertion( "Hypothalamic Dysinhibition Syndrome"^^xsd:string) AnnotationAssertion( "Hypothalamic Dysinhibition Syndromes"^^xsd:string) AnnotationAssertion( "Hypothalamic Neurohypophyseal Disorders"^^xsd:string) AnnotationAssertion( "Hypothalamic Overactivity Syndrome"^^xsd:string) AnnotationAssertion( "Hypothalamic Overactivity Syndromes"^^xsd:string) AnnotationAssertion( "Hypothalamic Pseudopuberties"^^xsd:string) AnnotationAssertion( "Hypothalamic-Adenohypophyseal Disorder"^^xsd:string) AnnotationAssertion( "Hypothalamic-Neurohypophyseal Disorder"^^xsd:string) AnnotationAssertion( "hypothalamic adenohypophyseal disorders"^^xsd:string) AnnotationAssertion( "hypothalamic diseases"^^xsd:string) AnnotationAssertion( "hypothalamic dysfunction syndromes"^^xsd:string) AnnotationAssertion( "hypothalamic pseudopuberty"^^xsd:string) AnnotationAssertion( "pituitary diencephalic syndrome"^^xsd:string) AnnotationAssertion( "pituitary diencephalic syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1931"^^xsd:string) AnnotationAssertion(rdfs:label "hypothalamic disease"^^xsd:string) SubClassOf( ) # Class: (Angelman syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Angelman_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome"^^xsd:string) "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531619"^^xsd:string) AnnotationAssertion( "MIM:105830"^^xsd:string) AnnotationAssertion( "EFO:0004131"^^xsd:string) AnnotationAssertion( "GARD:5810"^^xsd:string) AnnotationAssertion( "ICD10CM:Q93.51"^^xsd:string) AnnotationAssertion( "MESH:D017204"^^xsd:string) AnnotationAssertion( "MONDO:0007113"^^xsd:string) AnnotationAssertion( "NCI:C75462"^^xsd:string) AnnotationAssertion( "ORDO:72"^^xsd:string) AnnotationAssertion( "AS"^^xsd:string) AnnotationAssertion( "happy puppet syndrome"^^xsd:string) AnnotationAssertion( "puppet children"^^xsd:string) AnnotationAssertion( "puppetlike syndrome"^^xsd:string) AnnotationAssertion( "ANCR"^^xsd:string) AnnotationAssertion( "ANGELMAN SYNDROME CHROMOSOME REGION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1932"^^xsd:string) AnnotationAssertion(rdfs:label "Angelman syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rubinstein-Taybi syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome"^^xsd:string) "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180849"^^xsd:string) AnnotationAssertion( "MIM:613684"^^xsd:string) AnnotationAssertion( "CREBBP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7593"^^xsd:string) AnnotationAssertion( "MESH:D012415"^^xsd:string) AnnotationAssertion( "MIM:PS180849"^^xsd:string) AnnotationAssertion( "NCI:C75466"^^xsd:string) AnnotationAssertion( "ORDO:783"^^xsd:string) AnnotationAssertion( "RSTS"^^xsd:string) AnnotationAssertion( "RSTS1"^^xsd:string) AnnotationAssertion( "RSTS2"^^xsd:string) AnnotationAssertion( "Rubinstein syndrome"^^xsd:string) AnnotationAssertion( "Rubinstein-Taybi syndrome 1"^^xsd:string) AnnotationAssertion( "Rubinstein-Taybi syndrome 2"^^xsd:string) AnnotationAssertion( "broad thumb hallux syndrome"^^xsd:string) AnnotationAssertion( "broad thumb-hallux syndromes"^^xsd:string) AnnotationAssertion( "broad thumbs and great toes, characteristic facies, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1933"^^xsd:string) AnnotationAssertion(rdfs:label "Rubinstein-Taybi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysostosis"^^xsd:string) Annotation( "http://medical-dictionary.thefreedictionary.com/dysostosis"^^xsd:string) "A bone development disease that results in defective ossification of bone. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004413"^^xsd:string) AnnotationAssertion( "NCI:C34560"^^xsd:string) AnnotationAssertion( "dysostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1934"^^xsd:string) AnnotationAssertion(rdfs:label "dysostosis"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Ciliopathy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome"^^xsd:string) "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6866"^^xsd:string) AnnotationAssertion( "MESH:D020788"^^xsd:string) AnnotationAssertion( "MIM:PS209900"^^xsd:string) AnnotationAssertion( "NCI:C118632"^^xsd:string) AnnotationAssertion( "ORDO:110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Bardet-Biedl syndrome, modifier of"^^xsd:string) AnnotationAssertion( "DOID:1935"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atherosclerosis) AnnotationAssertion( "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. (DO)"^^xsd:string) AnnotationAssertion( "MIM:108725"^^xsd:string) AnnotationAssertion( "EFO:0003914"^^xsd:string) AnnotationAssertion( "ICD10CM:I70"^^xsd:string) AnnotationAssertion( "ICD9CM:440"^^xsd:string) AnnotationAssertion( "MESH:D050197"^^xsd:string) AnnotationAssertion( "NCI:C35768"^^xsd:string) AnnotationAssertion( "NCI:C35771"^^xsd:string) AnnotationAssertion( "ALP"^^xsd:string) AnnotationAssertion( "ATHEROGENIC LIPOPROTEIN PHENOTYPE"^^xsd:string) AnnotationAssertion( "ATHEROSCLEROSIS SUSCEPTIBILITY"^^xsd:string) AnnotationAssertion( "ATHS"^^xsd:string) AnnotationAssertion( "Atherogenesis"^^xsd:string) AnnotationAssertion( "Atheroscleroses"^^xsd:string) AnnotationAssertion( "Atherosclerosis, Susceptibility To"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1936"^^xsd:string) AnnotationAssertion(rdfs:label "atherosclerosis"^^xsd:string) SubClassOf( ) # Class: (intermittent squint) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.3"^^xsd:string) AnnotationAssertion( "ICD9CM:378.2"^^xsd:string) AnnotationAssertion( "intermittent heterotropia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1942"^^xsd:string) AnnotationAssertion(rdfs:label "intermittent squint"^^xsd:string) SubClassOf( ) # Class: (telogen effluvium) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:L65.0"^^xsd:string) AnnotationAssertion( "ICD9CM:704.02"^^xsd:string) AnnotationAssertion( "NCI:C112200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1943"^^xsd:string) AnnotationAssertion(rdfs:label "telogen effluvium"^^xsd:string) SubClassOf( ) # Class: (trichomoniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trichomoniasis"^^xsd:string) "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A59"^^xsd:string) AnnotationAssertion( "ICD9CM:131"^^xsd:string) AnnotationAssertion( "MESH:D014245"^^xsd:string) AnnotationAssertion( "NCI:C35720"^^xsd:string) AnnotationAssertion( "trichomonas infection"^^xsd:string) AnnotationAssertion( "trichomonas infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1947"^^xsd:string) AnnotationAssertion(rdfs:label "trichomoniasis"^^xsd:string) SubClassOf( ) # Class: (cholecystitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cholecystitis"^^xsd:string) Annotation( "https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary"^^xsd:string) "A cholangitis that is characterized by an inflammation that is located in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "DOID:9006000"^^xsd:string) AnnotationAssertion( "GARD:30"^^xsd:string) AnnotationAssertion( "ICD10CM:K81"^^xsd:string) AnnotationAssertion( "ICD9CM:575.10"^^xsd:string) AnnotationAssertion( "MESH:D002764"^^xsd:string) AnnotationAssertion( "NCI:C34465"^^xsd:string) AnnotationAssertion( "acute and chronic cholecystitis"^^xsd:string) AnnotationAssertion( "acute on chronic cholecystitis"^^xsd:string) AnnotationAssertion( "chronic cholecystitis"^^xsd:string) AnnotationAssertion( "gall bladder empyema"^^xsd:string) AnnotationAssertion( "gallbladder empyema"^^xsd:string) AnnotationAssertion( "gallbladder inflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1949"^^xsd:string) AnnotationAssertion(rdfs:label "cholecystitis"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21415195"^^xsd:string) "A female reproductive system disease that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009548"^^xsd:string) AnnotationAssertion( "MESH:D005184"^^xsd:string) AnnotationAssertion( "NCI:C26771"^^xsd:string) AnnotationAssertion( "fallopian tube diseases"^^xsd:string) AnnotationAssertion( "tubal obstruction"^^xsd:string) AnnotationAssertion( "tubal obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1962"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=45687"^^xsd:string) "A fallopian tube cancer that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000251"^^xsd:string) AnnotationAssertion( "NCI:C3867"^^xsd:string) AnnotationAssertion( "cancer of the fallopian tube"^^xsd:string) AnnotationAssertion( "carcinoma of fallopian tube"^^xsd:string) AnnotationAssertion( "fallopian tube Ca"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1963"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fallopian_tube_cancer"^^xsd:string) "A female reproductive organ cancer that is located_in fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9162"^^xsd:string) AnnotationAssertion( "ICD10CM:C57.0"^^xsd:string) AnnotationAssertion( "ICD9CM:183.2"^^xsd:string) AnnotationAssertion( "NCI:C3032"^^xsd:string) AnnotationAssertion( "NCI:C7480"^^xsd:string) AnnotationAssertion( "ORDO:180242"^^xsd:string) AnnotationAssertion( "cancer of fallopian tubes"^^xsd:string) AnnotationAssertion( "fallopian tube neoplasm"^^xsd:string) AnnotationAssertion( "malignant fallopian tube tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of uterine tube"^^xsd:string) AnnotationAssertion( "malignant tumor of fallopian tube"^^xsd:string) AnnotationAssertion( "malignant tumor of fallopian tubes"^^xsd:string) AnnotationAssertion( "malignant tumour of fallopian tube"^^xsd:string) AnnotationAssertion( "neoplasm of fallopian tube"^^xsd:string) AnnotationAssertion( "tumor of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1964"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20191300"^^xsd:string) "A fallopian tube cancer that dervies_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40128"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1965"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leiomyosarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string) "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000564"^^xsd:string) AnnotationAssertion( "GARD:6880"^^xsd:string) AnnotationAssertion( "ICDO:8890/3"^^xsd:string) AnnotationAssertion( "MESH:D007890"^^xsd:string) AnnotationAssertion( "NCI:C3158"^^xsd:string) AnnotationAssertion( "leiomyosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1967"^^xsd:string) AnnotationAssertion(rdfs:label "leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_palsy"^^xsd:string) Annotation( "http://www.brainandspinalcord.org/cerebral-palsy/index.html"^^xsd:string) Annotation( "http://www.cerebralpalsy.org/what-is-cerebral-palsy/"^^xsd:string) "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000632"^^xsd:string) AnnotationAssertion( "ICD10CM:G80"^^xsd:string) AnnotationAssertion( "MESH:D002547"^^xsd:string) AnnotationAssertion( "NCI:C34460"^^xsd:string) AnnotationAssertion( "CP"^^xsd:string) AnnotationAssertion( "congenital cerebral palsy"^^xsd:string) AnnotationAssertion( "infantile cerebral palsy"^^xsd:string) AnnotationAssertion( "RHOB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "Rolandic type cerebral palsy"^^xsd:string) AnnotationAssertion( "athetoid cerebral palsies"^^xsd:string) AnnotationAssertion( "athetoid cerebral palsy"^^xsd:string) AnnotationAssertion( "atonic cerebral palsy"^^xsd:string) AnnotationAssertion( "dystonic-rigid cerebral palsies"^^xsd:string) AnnotationAssertion( "dystonic-rigid cerebral palsy"^^xsd:string) AnnotationAssertion( "hypotonic cerebral palsies"^^xsd:string) AnnotationAssertion( "hypotonic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1969"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral palsy"^^xsd:string) SubClassOf( ) # Class: (fallopian tube carcinosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinosarcoma"^^xsd:string) "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000252"^^xsd:string) AnnotationAssertion( "NCI:C40124"^^xsd:string) AnnotationAssertion( "fallopian tube malignant mixed Mullerian tumor"^^xsd:string) AnnotationAssertion( "fallopian tube malignant mixed mesodermal (mullerian) tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1970"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube carcinosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube adenosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24557435"^^xsd:string) "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40125"^^xsd:string) AnnotationAssertion( "RDO:9003282"^^xsd:string) AnnotationAssertion( "fallopian tube mullerian adenosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1973"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube adenosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosarcoma"^^xsd:string) "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007134"^^xsd:string) AnnotationAssertion( "ICDO:8933/3"^^xsd:string) AnnotationAssertion( "MESH:D018195"^^xsd:string) AnnotationAssertion( "NCI:C9474"^^xsd:string) AnnotationAssertion( "adenosarcomas"^^xsd:string) AnnotationAssertion( "mullerian adenosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1974"^^xsd:string) AnnotationAssertion(rdfs:label "adenosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thymus lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24736228"^^xsd:string) "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6452"^^xsd:string) AnnotationAssertion( "thymolipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1975"^^xsd:string) AnnotationAssertion(rdfs:label "thymus lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (focal chorioretinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:363.0"^^xsd:string) AnnotationAssertion( "RDO:9003509"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1979"^^xsd:string) AnnotationAssertion(rdfs:label "focal chorioretinitis"^^xsd:string) SubClassOf( ) # Class: (rectal benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK6994/"^^xsd:string) "An intestinal benign neoplasm located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D012004"^^xsd:string) AnnotationAssertion( "NCI:C3350"^^xsd:string) AnnotationAssertion( "neoplasm of rectum"^^xsd:string) AnnotationAssertion( "rectal neoplasm"^^xsd:string) AnnotationAssertion( "rectal neoplasms"^^xsd:string) AnnotationAssertion( "rectal tumor"^^xsd:string) AnnotationAssertion( "rectal tumors"^^xsd:string) AnnotationAssertion( "rectum neoplasm"^^xsd:string) AnnotationAssertion( "rectum neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1984"^^xsd:string) AnnotationAssertion(rdfs:label "rectal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5553"^^xsd:string) AnnotationAssertion( "lymphoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1988"^^xsd:string) AnnotationAssertion(rdfs:label "rectum lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum malignant melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4640"^^xsd:string) AnnotationAssertion( "malignant melanoma of rectum"^^xsd:string) AnnotationAssertion( "melanoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1992"^^xsd:string) AnnotationAssertion(rdfs:label "rectum malignant melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=529764"^^xsd:string) "A colorectal cancer that is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000657"^^xsd:string) AnnotationAssertion( "ICD10CM:C20"^^xsd:string) AnnotationAssertion( "ICD9CM:154.1"^^xsd:string) AnnotationAssertion( "NCI:C7418"^^xsd:string) AnnotationAssertion( "NCI:C9382"^^xsd:string) AnnotationAssertion( "cancer of rectum"^^xsd:string) AnnotationAssertion( "carcinoma of rectum"^^xsd:string) AnnotationAssertion( "carcinoma of the rectum"^^xsd:string) AnnotationAssertion( "malignant neoplasm of rectum"^^xsd:string) AnnotationAssertion( "malignant rectal tumor"^^xsd:string) AnnotationAssertion( "malignant rectum tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of rectum"^^xsd:string) AnnotationAssertion( "rectal cancer"^^xsd:string) AnnotationAssertion( "rectal cancers"^^xsd:string) AnnotationAssertion( "rectum cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1993"^^xsd:string) AnnotationAssertion(rdfs:label "rectum cancer"^^xsd:string) SubClassOf( ) # Class: (rectum sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23712252"^^xsd:string) "A sarcoma and malignant tumor of rectum that is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5548"^^xsd:string) AnnotationAssertion( "sarcoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1995"^^xsd:string) AnnotationAssertion(rdfs:label "rectum sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A rectum cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005631"^^xsd:string) AnnotationAssertion( "NCI:C9383"^^xsd:string) AnnotationAssertion( "rectal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of rectum"^^xsd:string) AnnotationAssertion( "DOID:1996"^^xsd:string) AnnotationAssertion(rdfs:label "rectum adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lutembacher's syndrome) AnnotationAssertion(Annotation( "MESH:D008185"^^xsd:string) "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001024"^^xsd:string) AnnotationAssertion( "MESH:D008185"^^xsd:string) AnnotationAssertion( "RDO:0006034"^^xsd:string) AnnotationAssertion( "Lutembacher syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:38842003"^^xsd:string) "Lutembacher's anomaly"^^xsd:string) AnnotationAssertion( "Lutembachers Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1998"^^xsd:string) AnnotationAssertion(rdfs:label "Lutembacher's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic eustachian salpingitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string) "A otosalpingitis which is persistent and long-lasting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H68.02"^^xsd:string) AnnotationAssertion( "ICD9CM:381.52"^^xsd:string) AnnotationAssertion( "RDO:9003845"^^xsd:string) AnnotationAssertion( "chronic eustachian tube salpingitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:1999"^^xsd:string) AnnotationAssertion(rdfs:label "chronic eustachian salpingitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (benign giant cell tumor) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:200"^^xsd:string) AnnotationAssertion(rdfs:label "benign giant cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otosalpingitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false"^^xsd:string) "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H68.0"^^xsd:string) AnnotationAssertion( "ICD9CM:381.5"^^xsd:string) AnnotationAssertion( "Eustachian salpingitis"^^xsd:string) AnnotationAssertion( "Eustachian tube salpingitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2000"^^xsd:string) AnnotationAssertion(rdfs:label "otosalpingitis"^^xsd:string) SubClassOf( ) # Class: (neuroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuroma"^^xsd:string) "A nervous system benign neoplasm that is characterized as a nerve tissue tumor. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009619"^^xsd:string) AnnotationAssertion( "ICDO:9570/0"^^xsd:string) AnnotationAssertion( "MESH:D009463"^^xsd:string) AnnotationAssertion( "NCI:C3275"^^xsd:string) AnnotationAssertion( "neuromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2001"^^xsd:string) AnnotationAssertion(rdfs:label "neuroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (preretinal fibrosis) AnnotationAssertion(Annotation( "MESH:D019773"^^xsd:string) "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)"^^xsd:string) AnnotationAssertion( "ICD9CM:362.56"^^xsd:string) AnnotationAssertion( "MESH:D019773"^^xsd:string) AnnotationAssertion( "NCI:C175882"^^xsd:string) AnnotationAssertion( "ERM"^^xsd:string) AnnotationAssertion( "Epiretinal Membrane"^^xsd:string) AnnotationAssertion( "Epiretinal Membranes"^^xsd:string) AnnotationAssertion( "cellophane maculopathy"^^xsd:string) AnnotationAssertion( "macular puckering of retina"^^xsd:string) AnnotationAssertion( "macular retinal puckering"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2006"^^xsd:string) AnnotationAssertion(rdfs:label "preretinal fibrosis"^^xsd:string) SubClassOf( ) # Class: (degeneration of macula and posterior pole) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.3"^^xsd:string) AnnotationAssertion( "ICD9CM:362.5"^^xsd:string) AnnotationAssertion( "degeneration of macula and posterior pole of retina"^^xsd:string) AnnotationAssertion( "degeneration of macula or posterior pole"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2007"^^xsd:string) AnnotationAssertion(rdfs:label "degeneration of macula and posterior pole"^^xsd:string) SubClassOf( ) # Class: (connective tissue cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Connective_tissue"^^xsd:string) "A musculoskeletal system cancer that is located_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "mesenchymal tissue malignant neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:201"^^xsd:string) AnnotationAssertion(rdfs:label "connective tissue cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nezelof syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nezelof_syndrome"^^xsd:string) Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=C536288"^^xsd:string) "A T cell deficiency that results from the disfunction or underdevelopment of the thymus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:242700"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.4"^^xsd:string) AnnotationAssertion( "ICD9CM:279.13"^^xsd:string) AnnotationAssertion( "MESH:C536288"^^xsd:string) AnnotationAssertion( "ORDO:83471"^^xsd:string) AnnotationAssertion( "Nezelof's syndrome"^^xsd:string) AnnotationAssertion( "T-cell immunodeficiency with thymic aplasia"^^xsd:string) AnnotationAssertion( "TIDTA"^^xsd:string) AnnotationAssertion( "immune defect due to absence of thymus"^^xsd:string) AnnotationAssertion( "thymic aplasia"^^xsd:string) AnnotationAssertion( "thymic dysplasia with normal immunoglobulins"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2012"^^xsd:string) AnnotationAssertion(rdfs:label "Nezelof syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperinsulinism) AnnotationAssertion(Annotation( "MESH:D006946"^^xsd:string) "A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS."^^xsd:string) AnnotationAssertion( "ICD10CM:E16.1"^^xsd:string) AnnotationAssertion( "MESH:D006946"^^xsd:string) AnnotationAssertion( "Compensatory Hyperinsulinemia"^^xsd:string) AnnotationAssertion( "Endogenous Hyperinsulinism"^^xsd:string) AnnotationAssertion( "Exogenous Hyperinsulinism"^^xsd:string) AnnotationAssertion( "Hyperinsulinemia"^^xsd:string) AnnotationAssertion( "HEREDITARY HYPERINSULINISM"^^xsd:string) AnnotationAssertion( "HYPERINSULINISM DUE TO HNF4A DEFICIENCY"^^xsd:string) AnnotationAssertion( "HYPERINSULINISM, DOMINANT"^^xsd:string) AnnotationAssertion( "HYPERINSULINISM, DOMINANT/RECESSIVE"^^xsd:string) AnnotationAssertion( "UCP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2018"^^xsd:string) AnnotationAssertion(rdfs:label "hyperinsulinism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (placenta cancer) AnnotationAssertion(Annotation( "https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26156670"^^xsd:string) "A female reproductive organ cancer that is located_in the placenta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:181"^^xsd:string) AnnotationAssertion( "NCI:C3555"^^xsd:string) AnnotationAssertion( "malignant neoplasm of placenta"^^xsd:string) AnnotationAssertion( "malignant placental tumor"^^xsd:string) AnnotationAssertion( "neoplasm of placenta"^^xsd:string) AnnotationAssertion( "placental cancer"^^xsd:string) AnnotationAssertion( "placental tumors"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of placenta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2021"^^xsd:string) AnnotationAssertion(rdfs:label "placenta cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (placental choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/"^^xsd:string) "A gestational choriocarcinoma that is located_in the placenta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000479"^^xsd:string) AnnotationAssertion( "NCI:C8893"^^xsd:string) AnnotationAssertion( "choriocarcinoma of the placenta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2024"^^xsd:string) AnnotationAssertion(rdfs:label "placental choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (gestational choriocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gestational_choriocarcinoma"^^xsd:string) "A choriocarcinoma that develops in the presence of a preceding gestational event. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4646"^^xsd:string) AnnotationAssertion( "gestational chorionepithelioma"^^xsd:string) AnnotationAssertion( "molar pregnancy with choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2025"^^xsd:string) AnnotationAssertion(rdfs:label "gestational choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (exostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Exostosis"^^xsd:string) Annotation( "http://medical-dictionary.thefreedictionary.com/exostosis"^^xsd:string) "A hyperostosis that involves formation of new bone on the surface of preexisting bone. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M27.8"^^xsd:string) AnnotationAssertion( "ICD9CM:726.91"^^xsd:string) AnnotationAssertion( "MESH:D005096"^^xsd:string) AnnotationAssertion( "NCI:C3029"^^xsd:string) AnnotationAssertion( "bony outgrowth"^^xsd:string) AnnotationAssertion( "exostoses"^^xsd:string) AnnotationAssertion( "orbital exostosis"^^xsd:string) AnnotationAssertion( "swimmer's exostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:203"^^xsd:string) AnnotationAssertion(rdfs:label "exostosis"^^xsd:string) SubClassOf( ) # Class: (anxiety disorder) AnnotationAssertion(Annotation( "http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml"^^xsd:string) "A cognitive disorder that involves an excessive, irrational dread of everyday situations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607834"^^xsd:string) AnnotationAssertion( "EFO:0005230"^^xsd:string) AnnotationAssertion( "EFO:0006788"^^xsd:string) AnnotationAssertion( "ICD10CM:F41.9"^^xsd:string) AnnotationAssertion( "MESH:D001008"^^xsd:string) AnnotationAssertion( "NCI:C2878"^^xsd:string) AnnotationAssertion( "ANXIETY"^^xsd:string) AnnotationAssertion( "Neurotic Anxiety State"^^xsd:string) AnnotationAssertion( "anxiety disorders"^^xsd:string) AnnotationAssertion( "anxiety neuroses"^^xsd:string) AnnotationAssertion( "anxiety state"^^xsd:string) AnnotationAssertion( "neurotic anxiety states"^^xsd:string) AnnotationAssertion( "HARM AVOIDANCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SEROTONIN TRANSPORTER ACTIVITY, INCREASED/DECREASED"^^xsd:string) AnnotationAssertion( "DOID:2030"^^xsd:string) AnnotationAssertion(rdfs:label "anxiety disorder"^^xsd:string) SubClassOf( ) # Class: (communication disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Communication_disorder"^^xsd:string) "A specific developmental disorder that involves specific developmental disorders of speech and language. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F80.9"^^xsd:string) AnnotationAssertion( "MESH:D003147"^^xsd:string) AnnotationAssertion( "MONDO:0002182"^^xsd:string) AnnotationAssertion( "NCI:C2958"^^xsd:string) AnnotationAssertion( "Acquired Communication Disorder"^^xsd:string) AnnotationAssertion( "Childhood Communication Disorder"^^xsd:string) AnnotationAssertion( "Communication Disabilities"^^xsd:string) AnnotationAssertion( "Communication Disability"^^xsd:string) AnnotationAssertion( "Communicative Disorder"^^xsd:string) AnnotationAssertion( "Communicative Disorders"^^xsd:string) AnnotationAssertion( "Communicative Dysfunction"^^xsd:string) AnnotationAssertion( "Communicative Dysfunctions"^^xsd:string) AnnotationAssertion( "Developmental Communication Disorder"^^xsd:string) AnnotationAssertion( "Developmental Communication Disorders"^^xsd:string) AnnotationAssertion( "acquired communication disorders"^^xsd:string) AnnotationAssertion( "childhood communication disorders"^^xsd:string) AnnotationAssertion( "communication disorders"^^xsd:string) AnnotationAssertion( "neurogenic communication disorder"^^xsd:string) AnnotationAssertion( "neurogenic communication disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2033"^^xsd:string) AnnotationAssertion(rdfs:label "communication disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (encephalomalacia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_softening"^^xsd:string) "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000915"^^xsd:string) AnnotationAssertion( "MESH:D004678"^^xsd:string) AnnotationAssertion( "NCI:C98920"^^xsd:string) AnnotationAssertion( "Cerebromalacia"^^xsd:string) AnnotationAssertion( "Encephalomalacias"^^xsd:string) AnnotationAssertion( "Multicystic Encephalomalacia"^^xsd:string) AnnotationAssertion( "cerebromalacias"^^xsd:string) AnnotationAssertion( "multicystic encephalomalacias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2034"^^xsd:string) AnnotationAssertion(rdfs:label "encephalomalacia"^^xsd:string) SubClassOf( ) # Class: (enthesopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Enthesopathy"^^xsd:string) Annotation( "https://www.orthomedctr.com/enthesopathy.php"^^xsd:string) "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009666"^^xsd:string) AnnotationAssertion( "ICD9CM:726.90"^^xsd:string) AnnotationAssertion( "MESH:D000070676"^^xsd:string) AnnotationAssertion( "enthesopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:204"^^xsd:string) AnnotationAssertion(rdfs:label "enthesopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatitis B) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hepatitis_B#Transmission"^^xsd:string) Annotation( "http://www.cdc.gov/hepatitis/HBV/index.htm"^^xsd:string) Annotation( "http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf"^^xsd:string) "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610424"^^xsd:string) AnnotationAssertion( "EFO:0004197"^^xsd:string) AnnotationAssertion( "MESH:D006509"^^xsd:string) AnnotationAssertion( "NCI:C3097"^^xsd:string) AnnotationAssertion( "hepatitis B infection"^^xsd:string) AnnotationAssertion( "hepatitis B virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HBV, resistance to"^^xsd:string) AnnotationAssertion( "HBV, susceptibility to"^^xsd:string) AnnotationAssertion( "hepatitis B virus, resistance to"^^xsd:string) AnnotationAssertion( "hepatitis B virus, susceptibility to"^^xsd:string) AnnotationAssertion( "serum hepatitis"^^xsd:string) AnnotationAssertion( "DOID:2043"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (drug-induced hepatitis) AnnotationAssertion(Annotation( "MESH:D056487"^^xsd:string) "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite."^^xsd:string) AnnotationAssertion( "RDO:0007743"^^xsd:string) AnnotationAssertion( "EFO:1000905"^^xsd:string) AnnotationAssertion( "MESH:D056487"^^xsd:string) AnnotationAssertion( "Drug-Induced Hepatitides"^^xsd:string) AnnotationAssertion( "Drug-Induced Liver Injury, Chronic"^^xsd:string) AnnotationAssertion( "chronic hepatitis, drug-induced"^^xsd:string) AnnotationAssertion( "chronic hepatitis, drug-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2044"^^xsd:string) AnnotationAssertion(rdfs:label "drug-induced hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatitis D) AnnotationAssertion(Annotation( "http://www.cdc.gov/hepatitis/HDV/index.htm"^^xsd:string) Annotation( "http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html"^^xsd:string) "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007304"^^xsd:string) AnnotationAssertion( "MESH:D003699"^^xsd:string) AnnotationAssertion( "Amazon Black Fever"^^xsd:string) AnnotationAssertion( "Delta Hepatitides"^^xsd:string) AnnotationAssertion( "Delta Hepatitis"^^xsd:string) AnnotationAssertion( "Delta Infection"^^xsd:string) AnnotationAssertion( "Delta Infections"^^xsd:string) AnnotationAssertion( "Delta Superinfection"^^xsd:string) AnnotationAssertion( "Delta Superinfections"^^xsd:string) AnnotationAssertion( "HDV"^^xsd:string) AnnotationAssertion( "Labrea Disease"^^xsd:string) AnnotationAssertion( "Labrea Diseases"^^xsd:string) AnnotationAssertion( "hepatitis D virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2047"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis D"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autoimmune hepatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autoimmune_hepatitis"^^xsd:string) "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005676"^^xsd:string) AnnotationAssertion( "GARD:5871"^^xsd:string) AnnotationAssertion( "ICD10CM:K75.4"^^xsd:string) AnnotationAssertion( "ICD9CM:571.42"^^xsd:string) AnnotationAssertion( "MESH:D019693"^^xsd:string) AnnotationAssertion( "NCI:C27029"^^xsd:string) AnnotationAssertion( "NCI:C27778"^^xsd:string) AnnotationAssertion( "Autoimmune Chronic Hepatitis"^^xsd:string) AnnotationAssertion( "autoimmune chronic active hepatitis"^^xsd:string) AnnotationAssertion( "autoimmune chronic hepatitides"^^xsd:string) AnnotationAssertion( "autoimmune hepatitides"^^xsd:string) AnnotationAssertion( "autoimmune hepatitis with centrilobular necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2048"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperostosis"^^xsd:string) "A bone remodeling disease that results in an abnormal growth of located in bone. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M89.3"^^xsd:string) AnnotationAssertion( "MESH:D015576"^^xsd:string) AnnotationAssertion( "NCI:C34712"^^xsd:string) AnnotationAssertion( "Bone Hypertrophies"^^xsd:string) AnnotationAssertion( "Bone Hypertrophy"^^xsd:string) AnnotationAssertion( "Hyperostoses"^^xsd:string) AnnotationAssertion( "hypertrophy of bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:205"^^xsd:string) AnnotationAssertion(rdfs:label "hyperostosis"^^xsd:string) SubClassOf( ) # Class: (acute maxillary sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A maxillary sinusitis which lasts for less than 4 weeks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.0"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.00"^^xsd:string) AnnotationAssertion( "ICD9CM:461.0"^^xsd:string) AnnotationAssertion( "acute antritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2050"^^xsd:string) AnnotationAssertion(rdfs:label "acute maxillary sinusitis"^^xsd:string) SubClassOf( ) # Class: (maxillary sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007361"^^xsd:string) AnnotationAssertion( "ICD10CM:J32.0"^^xsd:string) AnnotationAssertion( "MESH:D015523"^^xsd:string) AnnotationAssertion( "NCI:C34809"^^xsd:string) AnnotationAssertion( "Maxillary Sinusitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2051"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinusitis"^^xsd:string) SubClassOf( ) # Class: (reactive cutaneous fibrous lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000759"^^xsd:string) AnnotationAssertion( "NCI:C27549"^^xsd:string) AnnotationAssertion( "RDO:9003685"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2053"^^xsd:string) AnnotationAssertion(rdfs:label "reactive cutaneous fibrous lesion"^^xsd:string) SubClassOf( ) # Class: (post-traumatic stress disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder"^^xsd:string) "An anxiety disorder which results from a traumatic experience that results in psychological trauma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001358"^^xsd:string) AnnotationAssertion( "ICD10CM:F43.1"^^xsd:string) AnnotationAssertion( "ICD9CM:309.81"^^xsd:string) AnnotationAssertion( "MESH:D013313"^^xsd:string) AnnotationAssertion( "NCI:C3389"^^xsd:string) AnnotationAssertion( "PTSD"^^xsd:string) AnnotationAssertion( "acute post traumatic stress disorder"^^xsd:string) AnnotationAssertion( "chronic post traumatic stress disorder"^^xsd:string) AnnotationAssertion( "delayed onset post traumatic stress disorder"^^xsd:string) AnnotationAssertion( "post-traumatic neuroses"^^xsd:string) AnnotationAssertion( "posttraumatic neuroses"^^xsd:string) AnnotationAssertion( "posttraumatic stress disorder"^^xsd:string) AnnotationAssertion( "posttraumatic stress disorders"^^xsd:string) AnnotationAssertion( "traumatic neurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2055"^^xsd:string) AnnotationAssertion(rdfs:label "post-traumatic stress disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic mucocutaneous candidiasis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh"^^xsd:string) "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12313"^^xsd:string) AnnotationAssertion( "MESH:D002178"^^xsd:string) AnnotationAssertion( "MIM:PS114580"^^xsd:string) AnnotationAssertion( "NCI:C34444"^^xsd:string) AnnotationAssertion( "ORDO:1334"^^xsd:string) AnnotationAssertion( "chronic mucocutaneous candidiases"^^xsd:string) AnnotationAssertion( "familial candidiasis, recessive"^^xsd:string) AnnotationAssertion( "familial chronic mucocutaneous candidiasis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2058"^^xsd:string) AnnotationAssertion(rdfs:label "chronic mucocutaneous candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vulvar disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vulvar_disease"^^xsd:string) "A female reproductive system disease that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014845"^^xsd:string) AnnotationAssertion( "NCI:C27631"^^xsd:string) AnnotationAssertion( "vulvar diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2059"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar disease"^^xsd:string) SubClassOf( ) # Class: (hereditary multiple exostoses) AnnotationAssertion(Annotation( "http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses"^^xsd:string) Annotation( "http://www.mheresearchfoundation.org/"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis"^^xsd:string) "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005560"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.6"^^xsd:string) AnnotationAssertion( "MESH:D005097"^^xsd:string) AnnotationAssertion( "NCI:C5183"^^xsd:string) AnnotationAssertion( "ORDO:321"^^xsd:string) AnnotationAssertion( "Bessel-Hagen disease"^^xsd:string) AnnotationAssertion( "Diaphyseal Aclasis"^^xsd:string) AnnotationAssertion( "Familial Exostoses"^^xsd:string) AnnotationAssertion( "Familial Exostosis"^^xsd:string) AnnotationAssertion( "HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS"^^xsd:string) AnnotationAssertion( "Hereditary Deforming Chondrodysplasia"^^xsd:string) AnnotationAssertion( "Hereditary Deforming Chondrodysplasias"^^xsd:string) AnnotationAssertion( "Hereditary Multiple Exostosis"^^xsd:string) AnnotationAssertion( "Multiple Cartilaginous Exostosis"^^xsd:string) AnnotationAssertion( "Multiple Exostoses"^^xsd:string) AnnotationAssertion( "Multiple Exostosis"^^xsd:string) AnnotationAssertion( "Multiple Osteochondroma"^^xsd:string) AnnotationAssertion( "diaphyseal aclases"^^xsd:string) AnnotationAssertion( "multiple cartilaginous exostoses"^^xsd:string) AnnotationAssertion( "multiple congenital exostosis"^^xsd:string) AnnotationAssertion( "multiple exostosis syndromes"^^xsd:string) AnnotationAssertion( "multiple ostechondromas"^^xsd:string) AnnotationAssertion( "multiple osteochondromas"^^xsd:string) AnnotationAssertion( "multiple osteochondromatosis"^^xsd:string) AnnotationAssertion( "osteochondromatosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:206"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary multiple exostoses"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vulvar nodular hidradenoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html"^^xsd:string) "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40312"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2060"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar nodular hidradenoma"^^xsd:string) SubClassOf( ) # Class: (nodular hidradenoma) AnnotationAssertion( "eccrine nodular hidradenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2061"^^xsd:string) AnnotationAssertion(rdfs:label "nodular hidradenoma"^^xsd:string) SubClassOf( ) # Class: (vulvar syringoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Syringoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/"^^xsd:string) "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40311"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2064"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar syringoma"^^xsd:string) SubClassOf( ) # Class: (syringoma) AnnotationAssertion(Annotation( "MESH:D018252"^^xsd:string) "A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. It is uncommon and more common in females than in males. It is most likely to appear at adolescence, and further lesions may develop during adult life. It does not appear to be hereditary. (Rook et al., Textbook of Dermatology, 4th ed, pp2407-8)"^^xsd:string) AnnotationAssertion( "GARD:10547"^^xsd:string) AnnotationAssertion( "ICDO:8407/0"^^xsd:string) AnnotationAssertion( "MESH:D018252"^^xsd:string) AnnotationAssertion( "NCI:C3761"^^xsd:string) AnnotationAssertion( "syringomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2065"^^xsd:string) AnnotationAssertion(rdfs:label "syringoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar angiokeratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/"^^xsd:string) "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8596"^^xsd:string) AnnotationAssertion( "RDO:9004810"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:402841001"^^xsd:string) "Fordyce angiokeratoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2066"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar angiokeratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002193"^^xsd:string) AnnotationAssertion( "NCI:C6434"^^xsd:string) AnnotationAssertion( "Bartholin gland neoplasm"^^xsd:string) AnnotationAssertion( "tumor of Bartholin's gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2068"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar squamous papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6376"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2071"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar squamous papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar squamous tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24342664"^^xsd:string) "A vulva cancer that has_material_basis_in squamous tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40283"^^xsd:string) AnnotationAssertion( "RDO:9003863"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2072"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar squamous tumor"^^xsd:string) SubClassOf( ) # Class: (perinatal intestinal perforation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P78.0"^^xsd:string) AnnotationAssertion( "ICD9CM:777.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2073"^^xsd:string) AnnotationAssertion(rdfs:label "perinatal intestinal perforation"^^xsd:string) SubClassOf( ) # Class: (intestinal perforation) AnnotationAssertion(Annotation( "MESH:D007416"^^xsd:string) "Opening or penetration through the wall of the INTESTINES."^^xsd:string) AnnotationAssertion( "EFO:1000987"^^xsd:string) AnnotationAssertion( "ICD9CM:569.83"^^xsd:string) AnnotationAssertion( "MESH:D007416"^^xsd:string) AnnotationAssertion( "NCI:C39611"^^xsd:string) AnnotationAssertion( "intestinal perforations"^^xsd:string) AnnotationAssertion( "perforation of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2074"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal perforation"^^xsd:string) SubClassOf( ) # Class: (minor vestibular glands adenoma) AnnotationAssertion(Annotation( "http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14714720"^^xsd:string) "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40301"^^xsd:string) AnnotationAssertion( "adenoma of minor vestibular glands"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2075"^^xsd:string) AnnotationAssertion(rdfs:label "minor vestibular glands adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vulvar glandular tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24342664"^^xsd:string) "A vulva cancer that has_material_basis_in glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40292"^^xsd:string) AnnotationAssertion( "RDO:9003865"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2076"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar glandular tumor"^^xsd:string) SubClassOf( ) # Class: (chondroid syringoma of the vulva) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40302"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2078"^^xsd:string) AnnotationAssertion(rdfs:label "chondroid syringoma of the vulva"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (eccrine mixed tumor of skin) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000385"^^xsd:string) AnnotationAssertion( "NCI:C4474"^^xsd:string) AnnotationAssertion( "eccrine mixed tumor"^^xsd:string) AnnotationAssertion( "eccrine mixed tumour"^^xsd:string) AnnotationAssertion( "eccrine mixed tumour of skin"^^xsd:string) AnnotationAssertion( "mixed eccrine neoplasm of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2079"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine mixed tumor of skin"^^xsd:string) SubClassOf( ) # Class: (vulvar trichoepithelioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/"^^xsd:string) "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40314"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2080"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar trichoepithelioma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (transient arthritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.8"^^xsd:string) AnnotationAssertion( "ICD9CM:716.4"^^xsd:string) AnnotationAssertion( "NCI:C35761"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2092"^^xsd:string) AnnotationAssertion(rdfs:label "transient arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar melanoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/"^^xsd:string) "A vulva cancer that has_material_basis_in melanocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40329"^^xsd:string) AnnotationAssertion( "malignant melanoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2093"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sweat gland cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4810"^^xsd:string) AnnotationAssertion( "malignant neoplasm of sweat gland"^^xsd:string) AnnotationAssertion( "malignant tumor of the sweat gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2095"^^xsd:string) AnnotationAssertion(rdfs:label "sweat gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25816393"^^xsd:string) "A vulva cancer that has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002920"^^xsd:string) AnnotationAssertion( "NCI:C40317"^^xsd:string) AnnotationAssertion( "sarcoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2096"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulval Paget's disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26971063"^^xsd:string) "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4027"^^xsd:string) AnnotationAssertion( "Paget's disease of vulva"^^xsd:string) AnnotationAssertion( "vulval Paget disease"^^xsd:string) AnnotationAssertion( "vulvar Paget's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2097"^^xsd:string) AnnotationAssertion(rdfs:label "vulval Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulva adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A vulva carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6380"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the vulva"^^xsd:string) AnnotationAssertion( "adenocarcinoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2098"^^xsd:string) AnnotationAssertion(rdfs:label "vulva adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heel spur) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Calcaneal_spur"^^xsd:string) Annotation( "http://www.medterms.com/script/main/art.asp?articlekey=7094"^^xsd:string) "An exostosis that results_in an abnormal growth located_in calcaneus. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M77.3"^^xsd:string) AnnotationAssertion( "ICD9CM:726.73"^^xsd:string) AnnotationAssertion( "MESH:D036982"^^xsd:string) AnnotationAssertion( "Calcaneal Spur"^^xsd:string) AnnotationAssertion( "Calcaneal Spurs"^^xsd:string) AnnotationAssertion( "Heel Spurs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:210"^^xsd:string) AnnotationAssertion(rdfs:label "heel spur"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulva squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma"^^xsd:string) "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000624"^^xsd:string) AnnotationAssertion( "NCI:C4052"^^xsd:string) AnnotationAssertion( "ORDO:494448"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of vulva"^^xsd:string) AnnotationAssertion( "vulvar epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "vulvar squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2101"^^xsd:string) AnnotationAssertion(rdfs:label "vulva squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myotonia congenita) AnnotationAssertion(Annotation( "http://rarediseases.org/rare-diseases/myotonia-congenita/"^^xsd:string) Annotation( "http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/myotonia-congenita/"^^xsd:string) "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12301"^^xsd:string) AnnotationAssertion( "ICD9CM:359.22"^^xsd:string) AnnotationAssertion( "MESH:D009224"^^xsd:string) AnnotationAssertion( "NCI:C84912"^^xsd:string) AnnotationAssertion( "ORDO:614"^^xsd:string) AnnotationAssertion( "Batten Turner congenital myopathy"^^xsd:string) AnnotationAssertion( "Congenital Myotonia"^^xsd:string) AnnotationAssertion( "Generalized Myotonia"^^xsd:string) AnnotationAssertion( "Generalized Myotonias"^^xsd:string) AnnotationAssertion( "Thomsen and Becker disease"^^xsd:string) AnnotationAssertion( "myotonia levior"^^xsd:string) AnnotationAssertion( "MYOTONIA WITH WARM-UP PHENOMENON"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2106"^^xsd:string) AnnotationAssertion(rdfs:label "myotonia congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cystoisosporiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm"^^xsd:string) "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007232"^^xsd:string) AnnotationAssertion( "ICD10CM:A07.3"^^xsd:string) AnnotationAssertion( "MESH:D021865"^^xsd:string) AnnotationAssertion( "NCI:C4076"^^xsd:string) AnnotationAssertion( "infection by Isospora belli and Isospora hominis"^^xsd:string) AnnotationAssertion( "isosporiases"^^xsd:string) AnnotationAssertion( "isosporiasis"^^xsd:string) AnnotationAssertion( "isosporosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2112"^^xsd:string) AnnotationAssertion(rdfs:label "cystoisosporiasis"^^xsd:string) SubClassOf( ) # Class: (coccidiosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coccidiosis"^^xsd:string) "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007212"^^xsd:string) AnnotationAssertion( "MESH:D003048"^^xsd:string) AnnotationAssertion( "NCI:C34493"^^xsd:string) AnnotationAssertion( "Besnoitiasis"^^xsd:string) AnnotationAssertion( "Besnoitioses"^^xsd:string) AnnotationAssertion( "Besnoitiosis"^^xsd:string) AnnotationAssertion( "besnoitiases"^^xsd:string) AnnotationAssertion( "coccidioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "intestinal coccidiosis"^^xsd:string) AnnotationAssertion( "DOID:2113"^^xsd:string) AnnotationAssertion(rdfs:label "coccidiosis"^^xsd:string) SubClassOf( ) # Class: (B cell deficiency) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf"^^xsd:string) Annotation( "http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency"^^xsd:string) "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:279.03"^^xsd:string) AnnotationAssertion( "B cell (antibody) deficiencies"^^xsd:string) AnnotationAssertion( "immunoglobulin heavy chain deficiency"^^xsd:string) AnnotationAssertion( "immunoglobulin heavy chain deletion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2115"^^xsd:string) AnnotationAssertion(rdfs:label "B cell deficiency"^^xsd:string) SubClassOf( ) # Class: (focal dermal hypoplasia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/6457/disease"^^xsd:string) "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:305600"^^xsd:string) AnnotationAssertion( "GARD:6457"^^xsd:string) AnnotationAssertion( "MESH:D005489"^^xsd:string) AnnotationAssertion( "NCI:C84715"^^xsd:string) AnnotationAssertion( "ORDO:2092"^^xsd:string) AnnotationAssertion( "DHOF"^^xsd:string) AnnotationAssertion( "FDH"^^xsd:string) AnnotationAssertion( "FODH"^^xsd:string) AnnotationAssertion( "Goltz syndrome"^^xsd:string) AnnotationAssertion( "Goltz's Syndrome"^^xsd:string) AnnotationAssertion( "Goltz-Gorlin syndrome"^^xsd:string) AnnotationAssertion( "Goltzs syndrome"^^xsd:string) AnnotationAssertion( "PORCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "focal dermal hypoplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2120"^^xsd:string) AnnotationAssertion(rdfs:label "focal dermal hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ectodermal dysplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ectodermal_dysplasia"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/001469.htm"^^xsd:string) Annotation( "https://www.omim.org/entry/305100"^^xsd:string) "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000323"^^xsd:string) AnnotationAssertion( "GARD:6317"^^xsd:string) AnnotationAssertion( "ICD9CM:757.31"^^xsd:string) AnnotationAssertion( "MESH:D004476"^^xsd:string) AnnotationAssertion( "MIM:PS305100"^^xsd:string) AnnotationAssertion( "NCI:C84683"^^xsd:string) AnnotationAssertion( "ORDO:79373"^^xsd:string) AnnotationAssertion( "ACC"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "anhidrotic ectodermal dysplasias"^^xsd:string) AnnotationAssertion( "anhydrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "anhydrotic ectodermal dysplasias"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita"^^xsd:string) AnnotationAssertion( "congenital ectodermal defect"^^xsd:string) AnnotationAssertion( "congenital ectodermal defects"^^xsd:string) AnnotationAssertion( "congenital ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "ectodermal dysplasias"^^xsd:string) AnnotationAssertion( "hidrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "hidrotic ectodermal dysplasias"^^xsd:string) AnnotationAssertion( "hydrotic ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "hydrotic ectodermal dysplasias"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia, dominant"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2121"^^xsd:string) AnnotationAssertion(rdfs:label "ectodermal dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pneumonic tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/signssymptoms/"^^xsd:string) "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A21.2"^^xsd:string) AnnotationAssertion( "ICD9CM:021.2"^^xsd:string) AnnotationAssertion( "bronchopneumonic tularemia"^^xsd:string) AnnotationAssertion( "pneumonic tularaemia"^^xsd:string) AnnotationAssertion( "pulmonary tularemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2122"^^xsd:string) AnnotationAssertion(rdfs:label "pneumonic tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tularemia) AnnotationAssertion(Annotation( "http://www.cdc.gov/tularemia/index.html"^^xsd:string) "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001444"^^xsd:string) AnnotationAssertion( "GARD:396"^^xsd:string) AnnotationAssertion( "ICD9CM:021.8"^^xsd:string) AnnotationAssertion( "MESH:D014406"^^xsd:string) AnnotationAssertion( "Francisella tularensis infection"^^xsd:string) AnnotationAssertion( "Francisella tularensis infections"^^xsd:string) AnnotationAssertion( "tularemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2123"^^xsd:string) AnnotationAssertion(rdfs:label "tularemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain germinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Germinoma"^^xsd:string) "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6284"^^xsd:string) AnnotationAssertion( "germinoma of the brain"^^xsd:string) AnnotationAssertion( "intracranial germinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2127"^^xsd:string) AnnotationAssertion(rdfs:label "brain germinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atypical teratoid rhabdoid tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor"^^xsd:string) "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609322"^^xsd:string) AnnotationAssertion( "EFO:1002008"^^xsd:string) AnnotationAssertion( "ICDO:9508/3"^^xsd:string) AnnotationAssertion( "MESH:C563737"^^xsd:string) AnnotationAssertion( "MESH:C563738"^^xsd:string) AnnotationAssertion( "NCI:C6906"^^xsd:string) AnnotationAssertion( "ORDO:99966"^^xsd:string) AnnotationAssertion( "Brain Tumor, Posterior Fossa, of Infancy, Familial"^^xsd:string) AnnotationAssertion( "Malignant Rhabdoid Tumor, Somatic"^^xsd:string) AnnotationAssertion( "RTPS1"^^xsd:string) AnnotationAssertion( "atypical teratoid tumor"^^xsd:string) AnnotationAssertion( "atypical teratoid/rhabdoid tumour"^^xsd:string) AnnotationAssertion( "rhabdoid tumor of the CNS"^^xsd:string) AnnotationAssertion( "rhabdoid tumor predisposition syndrome 1"^^xsd:string) AnnotationAssertion( "rhabdoid tumour of the CNS"^^xsd:string) AnnotationAssertion( "AT/RT"^^xsd:string) AnnotationAssertion( "BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC"^^xsd:string) AnnotationAssertion( "RDT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "rhabdoid tumor predisposition syndrome"^^xsd:string) AnnotationAssertion( "DOID:2129"^^xsd:string) AnnotationAssertion(rdfs:label "atypical teratoid rhabdoid tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12170093"^^xsd:string) "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002216"^^xsd:string) AnnotationAssertion( "NCI:C5154"^^xsd:string) AnnotationAssertion( "sarcoma of the brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2132"^^xsd:string) AnnotationAssertion(rdfs:label "brain sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system sarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12170093"^^xsd:string) "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5153"^^xsd:string) AnnotationAssertion( "sarcoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2133"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (temporal lobe neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.2"^^xsd:string) AnnotationAssertion( "ICD9CM:191.2"^^xsd:string) AnnotationAssertion( "NCI:C5567"^^xsd:string) AnnotationAssertion( "malignant neoplasm of temporal lobe"^^xsd:string) AnnotationAssertion( "neoplasm of temporal lobe"^^xsd:string) AnnotationAssertion( "tumor of temporal lobe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2135"^^xsd:string) AnnotationAssertion(rdfs:label "temporal lobe neoplasm"^^xsd:string) SubClassOf( ) # Class: (paraurethral gland neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "neoplasm of paraurethral glands"^^xsd:string) AnnotationAssertion( "tumor of the paraurethral gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2139"^^xsd:string) AnnotationAssertion(rdfs:label "paraurethral gland neoplasm"^^xsd:string) SubClassOf( ) # Class: (teeth hard tissue disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K03.8"^^xsd:string) AnnotationAssertion( "ICD10CM:K03.89"^^xsd:string) AnnotationAssertion( "ICD9CM:521.8"^^xsd:string) AnnotationAssertion( "RDO:9004412"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:214"^^xsd:string) AnnotationAssertion(rdfs:label "teeth hard tissue disease"^^xsd:string) SubClassOf( ) # Class: (urethral urothelial papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5061"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2140"^^xsd:string) AnnotationAssertion(rdfs:label "urethral urothelial papilloma"^^xsd:string) SubClassOf( ) # Class: (urethra leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/"^^xsd:string) "An urethral benign neoplasm that derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6171"^^xsd:string) AnnotationAssertion( "leiomyoma of the urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2142"^^xsd:string) AnnotationAssertion(rdfs:label "urethra leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian malignant mesothelioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8764743"^^xsd:string) "An ovarian cancer that derives_from mesothelial tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40444"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2143"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian malignant mesothelioma"^^xsd:string) SubClassOf( ) # Class: (malignant ovarian cyst) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23627408"^^xsd:string) "An ovarian cancer that is characterized by cystic structure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3843"^^xsd:string) AnnotationAssertion( "RDO:9001881"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2145"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ovarian cyst"^^xsd:string) SubClassOf( ) # Class: (ovary sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21740740"^^xsd:string) "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8267"^^xsd:string) AnnotationAssertion( "sarcoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2146"^^xsd:string) AnnotationAssertion(rdfs:label "ovary sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberculous oophoritis) AnnotationAssertion(Annotation( "https://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm"^^xsd:string) "An urogenital tuberculosis that results_in inflammtion located_in ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2148"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous oophoritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urogenital tuberculosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urogenital_tuberculosis"^^xsd:string) "An extrapulmonary tuberculosis that is located_in urogenital system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007531"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.1"^^xsd:string) AnnotationAssertion( "ICD9CM:016"^^xsd:string) AnnotationAssertion( "MESH:D014401"^^xsd:string) AnnotationAssertion( "genitourinary tuberculosis"^^xsd:string) AnnotationAssertion( "urogenital tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2149"^^xsd:string) AnnotationAssertion(rdfs:label "urogenital tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23905454"^^xsd:string) "An ovarian cancer that arises_from lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2150"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant ovarian surface epithelial-stromal neoplasm) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/0046817791902054"^^xsd:string) "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40026"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2151"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ovarian surface epithelial-stromal neoplasm"^^xsd:string) SubClassOf( ) # Class: (ovary epithelial cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ovarian_cancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor"^^xsd:string) "An ovarian cancer that is derives_from ovarian surface epithelium. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538090"^^xsd:string) AnnotationAssertion( "NCI:C4381"^^xsd:string) AnnotationAssertion( "epithelial tumor of ovary"^^xsd:string) AnnotationAssertion( "ovarian epithelial cancer"^^xsd:string) AnnotationAssertion( "ovarian surface epithelial-stromal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2152"^^xsd:string) AnnotationAssertion(rdfs:label "ovary epithelial cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ovarian Wilms' cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18260155"^^xsd:string) "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40443"^^xsd:string) AnnotationAssertion( "ovarian Wilms' tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2153"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian Wilms' cancer"^^xsd:string) SubClassOf( ) # Class: (nephroblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Wilms%27_tumor"^^xsd:string) "A kidney cancer that affects the kidneys and typically located_in children. (DO)"^^xsd:string) AnnotationAssertion( "MIM:194070"^^xsd:string) AnnotationAssertion( "EFO:0000212"^^xsd:string) AnnotationAssertion( "EFO:1000626"^^xsd:string) AnnotationAssertion( "ICD-O:M8960/3"^^xsd:string) AnnotationAssertion( "ICDO:8960/3"^^xsd:string) AnnotationAssertion( "MESH:D009396"^^xsd:string) AnnotationAssertion( "MIM:PS194070"^^xsd:string) AnnotationAssertion( "MONDO:0006058"^^xsd:string) AnnotationAssertion( "NCI:C158786"^^xsd:string) AnnotationAssertion( "NCI:C27730"^^xsd:string) AnnotationAssertion( "NCI:C3267"^^xsd:string) AnnotationAssertion( "NCI:C40407"^^xsd:string) AnnotationAssertion( "NCI:C60478"^^xsd:string) AnnotationAssertion( "NCI:C6180"^^xsd:string) AnnotationAssertion( "WT1"^^xsd:string) AnnotationAssertion( "Wilm tumor"^^xsd:string) AnnotationAssertion( "Wilm's tumor"^^xsd:string) AnnotationAssertion( "Wilms tumor"^^xsd:string) AnnotationAssertion( "Wilms tumor 1"^^xsd:string) AnnotationAssertion( "adult nephroblastoma"^^xsd:string) AnnotationAssertion( "adult renal Wilms' tumor"^^xsd:string) AnnotationAssertion( "bilateral Wilms tumor"^^xsd:string) AnnotationAssertion( "childhood renal Wilms' cancer"^^xsd:string) AnnotationAssertion( "nephroblastomas"^^xsd:string) AnnotationAssertion( "renal Wilms tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Wilms tumor, somatic"^^xsd:string) AnnotationAssertion( "Wilms tumor, susceptibility to"^^xsd:string) AnnotationAssertion( "childhood renal Wilms tumor"^^xsd:string) AnnotationAssertion( "DOID:2154"^^xsd:string) AnnotationAssertion(rdfs:label "nephroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant ovarian germ cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4514"^^xsd:string) AnnotationAssertion( "malignant germ cell tumor of ovary"^^xsd:string) AnnotationAssertion( "malignant ovarian germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2155"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ovarian germ cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (ovarian germ cell cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient"^^xsd:string) "An ovarian cancer that originates in the germ (egg) cells of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603737"^^xsd:string) AnnotationAssertion( "EFO:1000419"^^xsd:string) AnnotationAssertion( "GARD:9330"^^xsd:string) AnnotationAssertion( "MESH:C562841"^^xsd:string) AnnotationAssertion( "NCI:C3873"^^xsd:string) AnnotationAssertion( "germ cell neoplasm of ovary"^^xsd:string) AnnotationAssertion( "germ cell tumor of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ovarian germ cell tumor"^^xsd:string) AnnotationAssertion( "DOID:2156"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental caries) AnnotationAssertion(Annotation( "https://www.nidcr.nih.gov/health-info/tooth-decay"^^xsd:string) "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003819"^^xsd:string) AnnotationAssertion( "EFO:0006338"^^xsd:string) AnnotationAssertion( "EFO:0006339"^^xsd:string) AnnotationAssertion( "EFO:0600096"^^xsd:string) AnnotationAssertion( "ICD10CM:K02.6"^^xsd:string) AnnotationAssertion( "ICD10CM:K02.9"^^xsd:string) AnnotationAssertion( "ICD9CM:521.0"^^xsd:string) AnnotationAssertion( "ICD9CM:521.07"^^xsd:string) AnnotationAssertion( "MESH:D003731"^^xsd:string) AnnotationAssertion( "NCI:C52593"^^xsd:string) AnnotationAssertion( "Carious Dentin"^^xsd:string) AnnotationAssertion( "Dental Decay"^^xsd:string) AnnotationAssertion( "Dental White Spot"^^xsd:string) AnnotationAssertion( "Dental caries extending into pulp"^^xsd:string) AnnotationAssertion( "Dental caries of smooth surface"^^xsd:string) AnnotationAssertion( "Dental caries pit and fissure"^^xsd:string) AnnotationAssertion( "White Spot"^^xsd:string) AnnotationAssertion( "dental white spots"^^xsd:string) AnnotationAssertion( "white spots"^^xsd:string) AnnotationAssertion( "smooth surface dental caries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:216"^^xsd:string) AnnotationAssertion(rdfs:label "dental caries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity disease) AnnotationAssertion( "NCI:C27102"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2163"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity disease"^^xsd:string) SubClassOf( ) # Class: (enamel caries) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0600095"^^xsd:string) AnnotationAssertion( "ICD9CM:521.01"^^xsd:string) AnnotationAssertion( "dental caries limited to enamel"^^xsd:string) AnnotationAssertion( "primary dental caries"^^xsd:string) AnnotationAssertion( "simple dental cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:217"^^xsd:string) AnnotationAssertion(rdfs:label "enamel caries"^^xsd:string) SubClassOf( ) # Class: (vaginitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21524046"^^xsd:string) "A vaginal disease that is characterized by inflammation of the vagina. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005757"^^xsd:string) AnnotationAssertion( "ICD9CM:616.1"^^xsd:string) AnnotationAssertion( "MESH:D014627"^^xsd:string) AnnotationAssertion( "NCI:C26911"^^xsd:string) AnnotationAssertion( "Vaginitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2170"^^xsd:string) AnnotationAssertion(rdfs:label "vaginitis"^^xsd:string) SubClassOf( ) # Class: (eyelid benign neoplasm) AnnotationAssertion(Annotation( "MESH:D005142"^^xsd:string) "Tumors of cancer of the EYELIDS."^^xsd:string) AnnotationAssertion( "eyelid neoplasm"^^xsd:string) AnnotationAssertion( "eyelid neoplasms"^^xsd:string) AnnotationAssertion( "tumor of the eyelid"^^xsd:string) AnnotationAssertion( "EFO:1000934"^^xsd:string) AnnotationAssertion( "MESH:D005142"^^xsd:string) AnnotationAssertion( "NCI:C3031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2173"^^xsd:string) AnnotationAssertion(rdfs:label "eyelid benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ocular cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eye"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Eye_neoplasm"^^xsd:string) "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:190.8"^^xsd:string) AnnotationAssertion( "NCI:C3030"^^xsd:string) AnnotationAssertion( "cancer of eye"^^xsd:string) AnnotationAssertion( "cancer of the eye"^^xsd:string) AnnotationAssertion( "eye cancer"^^xsd:string) AnnotationAssertion( "eye cancers"^^xsd:string) AnnotationAssertion( "malignant eye neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2174"^^xsd:string) AnnotationAssertion(rdfs:label "ocular cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carbuncle) AnnotationAssertion(Annotation( "MESH:D002270"^^xsd:string) "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is STAPHYLOCOCCUS AUREUS. Carbuncles produce fever, leukocytosis, extreme pain, and prostration."^^xsd:string) AnnotationAssertion( "EFO:1000674"^^xsd:string) AnnotationAssertion( "ICD9CM:680.9"^^xsd:string) AnnotationAssertion( "MESH:D002270"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of any part of face except eye"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of buttock"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of face"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of foot"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of gluteal region"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of hand"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of leg except foot"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of neck"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of trunk"^^xsd:string) AnnotationAssertion( "carbuncle and furuncle of upper arm and forearm"^^xsd:string) AnnotationAssertion( "carbuncles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2176"^^xsd:string) AnnotationAssertion(rdfs:label "carbuncle"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ascending colon cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.2"^^xsd:string) AnnotationAssertion( "ICD9CM:153.6"^^xsd:string) AnnotationAssertion( "RDO:9002025"^^xsd:string) AnnotationAssertion( "Ca ascending colon"^^xsd:string) AnnotationAssertion( "malignant neoplasm of right colon"^^xsd:string) AnnotationAssertion( "malignant tumor of ascending colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:218"^^xsd:string) AnnotationAssertion(rdfs:label "ascending colon cancer"^^xsd:string) SubClassOf( ) # Class: (post-surgical hypoinsulinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E89.1"^^xsd:string) AnnotationAssertion( "ICD9CM:251.3"^^xsd:string) AnnotationAssertion( "postsurgical hypoinsulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2181"^^xsd:string) AnnotationAssertion(rdfs:label "post-surgical hypoinsulinemia"^^xsd:string) SubClassOf( ) # Class: (amelogenesis imperfecta) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amelogenesis_imperfecta"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract"^^xsd:string) "A dental enamel hypoplasia characterized by abnormal enamel formation. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002015"^^xsd:string) AnnotationAssertion( "GARD:5791"^^xsd:string) AnnotationAssertion( "MESH:D000567"^^xsd:string) AnnotationAssertion( "MIM:PS104500"^^xsd:string) AnnotationAssertion( "ORDO:88661"^^xsd:string) AnnotationAssertion( "congenital enamel hypoplasia"^^xsd:string) AnnotationAssertion( "AMELOGENESIS IMPERFECTA TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dental hypomineralization"^^xsd:string) AnnotationAssertion( "DOID:2187"^^xsd:string) AnnotationAssertion(rdfs:label "amelogenesis imperfecta"^^xsd:string) SubClassOf( ) # Class: (colon cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=44237"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Colon-Cancer"^^xsd:string) "A colorectal cancer that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18"^^xsd:string) AnnotationAssertion( "ICD9CM:153"^^xsd:string) AnnotationAssertion( "NCI:C9242"^^xsd:string) AnnotationAssertion( "Colon Cancers"^^xsd:string) AnnotationAssertion( "cancer of colon"^^xsd:string) AnnotationAssertion( "cancer of the colon"^^xsd:string) AnnotationAssertion( "colonic cancer"^^xsd:string) AnnotationAssertion( "colonic cancers"^^xsd:string) AnnotationAssertion( "malignant tumor of colon"^^xsd:string) AnnotationAssertion( "COLON CANCER, ADVANCED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "COLON CANCER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:219"^^xsd:string) AnnotationAssertion(rdfs:label "colon cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute perichondritis of pinna) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string) "A perichondritis of auricle with a sudden onset and a short course. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:380.01"^^xsd:string) AnnotationAssertion( "RDO:9004463"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:221"^^xsd:string) AnnotationAssertion(rdfs:label "acute perichondritis of pinna"^^xsd:string) SubClassOf( ) # Class: (factor XIII deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/613225"^^xsd:string) Annotation( "http://omim.org/entry/613235"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance"^^xsd:string) "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10766"^^xsd:string) AnnotationAssertion( "MESH:D005177"^^xsd:string) AnnotationAssertion( "NCI:C98941"^^xsd:string) AnnotationAssertion( "Factor XIII Deficiencies"^^xsd:string) AnnotationAssertion( "Laki-Lorand factor deficiency"^^xsd:string) AnnotationAssertion( "factor XIII deficiency disease"^^xsd:string) AnnotationAssertion( "hereditary factor XIII deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2211"^^xsd:string) AnnotationAssertion(rdfs:label "factor XIII deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hemorrhagic disease) AnnotationAssertion(Annotation( "MESH:D006474"^^xsd:string) "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS)."^^xsd:string) AnnotationAssertion( "ICD10CM:D69.9"^^xsd:string) AnnotationAssertion( "ICD9CM:287.9"^^xsd:string) AnnotationAssertion( "MESH:D006474"^^xsd:string) AnnotationAssertion( "MONDO:0002243"^^xsd:string) AnnotationAssertion( "ABNORMAL BLEEDING"^^xsd:string) AnnotationAssertion( "hemorrhagic diatheses"^^xsd:string) AnnotationAssertion( "hemorrhagic diathesis"^^xsd:string) AnnotationAssertion( "hemorrhagic disorder"^^xsd:string) AnnotationAssertion( "hemorrhagic disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2213"^^xsd:string) AnnotationAssertion(rdfs:label "hemorrhagic disease"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (factor VII deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/227500"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes"^^xsd:string) "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227500"^^xsd:string) AnnotationAssertion( "OMIA:000361"^^xsd:string) AnnotationAssertion( "F7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:2238"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.2"^^xsd:string) AnnotationAssertion( "MESH:D005168"^^xsd:string) AnnotationAssertion( "NCI:C131631"^^xsd:string) AnnotationAssertion( "ORDO:327"^^xsd:string) AnnotationAssertion( "F7 deficiency"^^xsd:string) AnnotationAssertion( "factor VII deficiencies"^^xsd:string) AnnotationAssertion( "hypoproconvertinemia"^^xsd:string) AnnotationAssertion( "hypoproconvertinemias"^^xsd:string) AnnotationAssertion( "stable deficiency"^^xsd:string) AnnotationAssertion( "CONGENITAL FACTOR VII DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FACTOR VII PADUA"^^xsd:string) AnnotationAssertion( "DOID:2215"^^xsd:string) AnnotationAssertion(rdfs:label "factor VII deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (factor V deficiency) AnnotationAssertion(Annotation( "MESH:D005166"^^xsd:string) "A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "GARD:2237"^^xsd:string) AnnotationAssertion( "MESH:D005166"^^xsd:string) AnnotationAssertion( "MIM:227400"^^xsd:string) AnnotationAssertion( "MONDO:0020586"^^xsd:string) AnnotationAssertion( "NCI:C98938"^^xsd:string) AnnotationAssertion( "Factor V Deficiencies"^^xsd:string) AnnotationAssertion( "Labile Factor Deficiency"^^xsd:string) AnnotationAssertion( "Owren Disease"^^xsd:string) AnnotationAssertion( "Owren Parahemophilia"^^xsd:string) AnnotationAssertion( "Owren's Disease"^^xsd:string) AnnotationAssertion( "Owrens Disease"^^xsd:string) AnnotationAssertion( "Parahemophilia"^^xsd:string) AnnotationAssertion( "hereditary hypoproaccelerinaemia"^^xsd:string) AnnotationAssertion( "labile deficiency"^^xsd:string) AnnotationAssertion( "labile factor deficiencies"^^xsd:string) AnnotationAssertion( "parahemophilias"^^xsd:string) AnnotationAssertion( "proaccelerin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2216"^^xsd:string) AnnotationAssertion(rdfs:label "factor V deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bernard-Soulier syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10706630"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8481514"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8703016"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9616133"^^xsd:string) "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (DO)"^^xsd:string) AnnotationAssertion( "MIM:231200"^^xsd:string) AnnotationAssertion( "MESH:D001606"^^xsd:string) AnnotationAssertion( "NCI:C84595"^^xsd:string) AnnotationAssertion( "ORDO:274"^^xsd:string) AnnotationAssertion( "BDPLT1"^^xsd:string) AnnotationAssertion( "BSS"^^xsd:string) AnnotationAssertion( "Bernard-Soulier thrombopathy"^^xsd:string) AnnotationAssertion( "Deficiency of Platelet Glycoprotein 1b"^^xsd:string) AnnotationAssertion( "Giant Platelet Syndrome"^^xsd:string) AnnotationAssertion( "Platelet Glycoprotein Ib Deficiency"^^xsd:string) AnnotationAssertion( "Von Willebrand factor receptor deficiency"^^xsd:string) AnnotationAssertion( "deficiency of platelet glycoprotein Ib"^^xsd:string) AnnotationAssertion( "giant platelet syndromes"^^xsd:string) AnnotationAssertion( "hemorrhagic dystrophic thrombocytopenia"^^xsd:string) AnnotationAssertion( "platelet-type bleeding disorder 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2217"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (blood platelet disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders"^^xsd:string) "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001003"^^xsd:string) AnnotationAssertion( "MESH:D001791"^^xsd:string) AnnotationAssertion( "MIM:PS231200"^^xsd:string) AnnotationAssertion( "NCI:C131634"^^xsd:string) AnnotationAssertion( "blood platelet disorder"^^xsd:string) AnnotationAssertion( "blood platelet disorders"^^xsd:string) AnnotationAssertion( "platelet disorder"^^xsd:string) AnnotationAssertion( "thrombocytopathies"^^xsd:string) AnnotationAssertion( "thrombocytopathy"^^xsd:string) AnnotationAssertion( "Thrombopathia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2218"^^xsd:string) AnnotationAssertion(rdfs:label "blood platelet disease"^^xsd:string) SubClassOf( ) # Class: (Glanzmann's thrombasthenia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16463284"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2014236"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9160670"^^xsd:string) "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001000"^^xsd:string) AnnotationAssertion( "GARD:2478"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.1"^^xsd:string) AnnotationAssertion( "MESH:D013915"^^xsd:string) AnnotationAssertion( "MIM:PS273800"^^xsd:string) AnnotationAssertion( "NCI:C61249"^^xsd:string) AnnotationAssertion( "ORDO:849"^^xsd:string) AnnotationAssertion( "GP IIb IIIa Complex, Deficiency Of"^^xsd:string) AnnotationAssertion( "GT"^^xsd:string) AnnotationAssertion( "Glanzmann Thrombasthenia, Type A"^^xsd:string) AnnotationAssertion( "Glanzmann thrombasthenia"^^xsd:string) AnnotationAssertion( "Glycoprotein Complex IIb IIIa, Deficiency Of"^^xsd:string) AnnotationAssertion( "Platelet Fibrinogen Receptor, Deficiency of"^^xsd:string) AnnotationAssertion( "Platelet Glycoprotein 2b 3a Deficiency"^^xsd:string) AnnotationAssertion( "deficiency of GP 2b 3a complex"^^xsd:string) AnnotationAssertion( "glycoprotein IIb/IIIa defect"^^xsd:string) AnnotationAssertion( "platelet glycoprotein IIb IIIa deficiency"^^xsd:string) AnnotationAssertion( "platelet-type bleeding disorder 2"^^xsd:string) AnnotationAssertion( "thrombasthenia"^^xsd:string) AnnotationAssertion( "thrombasthenia of Glanzmann and Naegeli"^^xsd:string) AnnotationAssertion( "thrombasthenias"^^xsd:string) AnnotationAssertion( "thrombocytasthenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2219"^^xsd:string) AnnotationAssertion(rdfs:label "Glanzmann's thrombasthenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perichondritis of auricle) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm"^^xsd:string) "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H61.0"^^xsd:string) AnnotationAssertion( "ICD9CM:380.00"^^xsd:string) AnnotationAssertion( "perichondritis and chondritis of pinna"^^xsd:string) AnnotationAssertion( "perichondritis of pinna"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:222"^^xsd:string) AnnotationAssertion(rdfs:label "perichondritis of auricle"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (factor X deficiency) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/factor-x-deficiency/"^^xsd:string) "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227600"^^xsd:string) AnnotationAssertion( "GARD:6404"^^xsd:string) AnnotationAssertion( "MESH:D005171"^^xsd:string) AnnotationAssertion( "NCI:C131632"^^xsd:string) AnnotationAssertion( "ORDO:328"^^xsd:string) AnnotationAssertion( "F10 deficiency"^^xsd:string) AnnotationAssertion( "Stuart Prower factor deficiency"^^xsd:string) AnnotationAssertion( "Stuart-Prower deficiency"^^xsd:string) AnnotationAssertion( "Stuart-Prower disease"^^xsd:string) AnnotationAssertion( "congenital Stuart factor deficiency"^^xsd:string) AnnotationAssertion( "congenital factor X deficiency"^^xsd:string) AnnotationAssertion( "factor X deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2222"^^xsd:string) AnnotationAssertion(rdfs:label "factor X deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (platelet storage pool deficiency) AnnotationAssertion(Annotation( "MESH:D010981"^^xsd:string) "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored."^^xsd:string) AnnotationAssertion( "MIM:185050"^^xsd:string) AnnotationAssertion( "EFO:1001112"^^xsd:string) AnnotationAssertion( "GARD:5034"^^xsd:string) AnnotationAssertion( "MESH:D010981"^^xsd:string) AnnotationAssertion( "Acquired Storage Pool Disease"^^xsd:string) AnnotationAssertion( "Familial Platelet Storage Pool Disease"^^xsd:string) AnnotationAssertion( "Platelet Storage Pool Deficiencies"^^xsd:string) AnnotationAssertion( "Platelet Storage Pool Disease"^^xsd:string) AnnotationAssertion( "STORAGE POOL DISEASE OF PLATELETS"^^xsd:string) AnnotationAssertion( "Storage Pool Deficiencies"^^xsd:string) AnnotationAssertion( "Storage Pool Deficiency"^^xsd:string) AnnotationAssertion( "dense body defect"^^xsd:string) AnnotationAssertion( "platelet dense granule deficiency"^^xsd:string) AnnotationAssertion( "platelet storage pool defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2223"^^xsd:string) AnnotationAssertion(rdfs:label "platelet storage pool deficiency"^^xsd:string) SubClassOf( ) # Class: (essential thrombocythemia) AnnotationAssertion(Annotation( "http://www.webmd.com/a-to-z-guides/thrombocythemia-essential"^^xsd:string) "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. (DO)"^^xsd:string) AnnotationAssertion( "MIM:187950"^^xsd:string) AnnotationAssertion( "EFO:0000479"^^xsd:string) AnnotationAssertion( "GARD:6594"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.3"^^xsd:string) AnnotationAssertion( "ICD9CM:238.71"^^xsd:string) AnnotationAssertion( "ICDO:9962/3"^^xsd:string) AnnotationAssertion( "MESH:D013920"^^xsd:string) AnnotationAssertion( "NCI:C3407"^^xsd:string) AnnotationAssertion( "ORDO:3318"^^xsd:string) AnnotationAssertion( "ORDO:71493"^^xsd:string) AnnotationAssertion( "Essential Thrombocythemias"^^xsd:string) AnnotationAssertion( "Hemorrhagic Thrombocythemia"^^xsd:string) AnnotationAssertion( "Hemorrhagic Thrombocythemias"^^xsd:string) AnnotationAssertion( "Idiopathic Thrombocythemia"^^xsd:string) AnnotationAssertion( "Idiopathic Thrombocythemias"^^xsd:string) AnnotationAssertion( "Primary Thrombocythemia"^^xsd:string) AnnotationAssertion( "Primary Thrombocythemias"^^xsd:string) AnnotationAssertion( "THCYT1"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombocytoses"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombocytosis"^^xsd:string) AnnotationAssertion( "essential thrombocythaemia"^^xsd:string) AnnotationAssertion( "familial thrombocytosis"^^xsd:string) AnnotationAssertion( "hereditary thrombocythemia"^^xsd:string) AnnotationAssertion( "primary thrombocytoses"^^xsd:string) AnnotationAssertion( "primary thrombocytosis"^^xsd:string) AnnotationAssertion( "thrombocythemia 1"^^xsd:string) AnnotationAssertion( "thrombocytosis 1"^^xsd:string) AnnotationAssertion( "familial essential thrombocythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2224"^^xsd:string) AnnotationAssertion(rdfs:label "essential thrombocythemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myeloproliferative neoplasm) AnnotationAssertion(Annotation( "http://www.bloodjournal.org/content/114/5/937.long"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/myeloproliferative"^^xsd:string) "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002428"^^xsd:string) AnnotationAssertion( "EFO:0004251"^^xsd:string) AnnotationAssertion( "ICDO:9960/3"^^xsd:string) AnnotationAssertion( "MIM:616871"^^xsd:string) AnnotationAssertion( "NCI:C4345"^^xsd:string) AnnotationAssertion( "CMPD"^^xsd:string) AnnotationAssertion( "CMPD, U"^^xsd:string) AnnotationAssertion( "Chronic Myeloproliferative Disorder"^^xsd:string) AnnotationAssertion( "Myeloproliferative Neoplasms"^^xsd:string) AnnotationAssertion( "chronic myeloproliferative disease"^^xsd:string) AnnotationAssertion( "MYELOPROLIFERATIVE NEOPLASM, UNCLASSIFIABLE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DDX41-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:2226"^^xsd:string) AnnotationAssertion(rdfs:label "myeloproliferative neoplasm"^^xsd:string) SubClassOf( ) # Class: (thrombocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thrombocytosis"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx"^^xsd:string) "A blood platelet disease that is characterized by the presence of high platelet counts in the blood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.83"^^xsd:string) AnnotationAssertion( "MESH:D013922"^^xsd:string) AnnotationAssertion( "MIM:PS187950"^^xsd:string) AnnotationAssertion( "NCI:C35530"^^xsd:string) AnnotationAssertion( "thrombocythaemia"^^xsd:string) AnnotationAssertion( "thrombocythemia"^^xsd:string) AnnotationAssertion( "thrombocythemias"^^xsd:string) AnnotationAssertion( "thrombocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2228"^^xsd:string) AnnotationAssertion(rdfs:label "thrombocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (factor XI deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/factor-xi-deficiency"^^xsd:string) Annotation( "https://www.omim.org/entry/612416"^^xsd:string) "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612416"^^xsd:string) AnnotationAssertion( "OMIA:000363"^^xsd:string) AnnotationAssertion( "GARD:9670"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.1"^^xsd:string) AnnotationAssertion( "ICD9CM:286.2"^^xsd:string) AnnotationAssertion( "MESH:D005173"^^xsd:string) AnnotationAssertion( "NCI:C84705"^^xsd:string) AnnotationAssertion( "F11 deficiency"^^xsd:string) AnnotationAssertion( "PLASMA FACTOR XI DEFICIENCY"^^xsd:string) AnnotationAssertion( "PTA DEFICIENCY"^^xsd:string) AnnotationAssertion( "Rosenthal syndrome"^^xsd:string) AnnotationAssertion( "Rosenthal syndromes"^^xsd:string) AnnotationAssertion( "Rosenthal's Syndrome"^^xsd:string) AnnotationAssertion( "Rosenthal's disease"^^xsd:string) AnnotationAssertion( "Rosenthals Syndrome"^^xsd:string) AnnotationAssertion( "congenital factor XI deficiency"^^xsd:string) AnnotationAssertion( "factor XI deficiencies"^^xsd:string) AnnotationAssertion( "hemophilia C"^^xsd:string) AnnotationAssertion( "hereditary factor XI deficiency disease"^^xsd:string) AnnotationAssertion( "plasma thromboplastin antecedent deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2229"^^xsd:string) AnnotationAssertion(rdfs:label "factor XI deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basilar artery insufficiency) AnnotationAssertion( "ICD9CM:435.0"^^xsd:string) AnnotationAssertion( "NCI:C34413"^^xsd:string) AnnotationAssertion( "Basilar Artery Ischemia"^^xsd:string) AnnotationAssertion( "Basilar Artery Ischemias"^^xsd:string) AnnotationAssertion( "Basilar Artery Stenoses"^^xsd:string) AnnotationAssertion( "Basilar Artery Stenosis"^^xsd:string) AnnotationAssertion( "Basilar Insufficiencies"^^xsd:string) AnnotationAssertion( "Basilar Insufficiency"^^xsd:string) AnnotationAssertion( "basilar artery insufficiencies"^^xsd:string) AnnotationAssertion( "basilar artery syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:223"^^xsd:string) AnnotationAssertion(rdfs:label "basilar artery insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (factor XII deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/234000"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/factor-xii-deficiency/"^^xsd:string) "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234000"^^xsd:string) AnnotationAssertion( "GARD:6558"^^xsd:string) AnnotationAssertion( "MESH:D005175"^^xsd:string) AnnotationAssertion( "NCI:C131740"^^xsd:string) AnnotationAssertion( "ORDO:330"^^xsd:string) AnnotationAssertion( "Coagulation Factor 12 Deficiency"^^xsd:string) AnnotationAssertion( "F12 DEFICIENCY"^^xsd:string) AnnotationAssertion( "Factor 12 Deficiency"^^xsd:string) AnnotationAssertion( "HAF DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hageman deficiency"^^xsd:string) AnnotationAssertion( "Hageman factor deficiency"^^xsd:string) AnnotationAssertion( "Hageman trait"^^xsd:string) AnnotationAssertion( "factor 12 deficiencies"^^xsd:string) AnnotationAssertion( "factor XII deficiencies"^^xsd:string) AnnotationAssertion( "factor XII deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2231"^^xsd:string) AnnotationAssertion(rdfs:label "factor XII deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (focal epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epilepsy"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Focal_epilepsy"^^xsd:string) Annotation( "http://www.aafp.org/afp/2001/0701/p91.html"^^xsd:string) "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004263"^^xsd:string) AnnotationAssertion( "MESH:D004828"^^xsd:string) AnnotationAssertion( "NCI:C122812"^^xsd:string) AnnotationAssertion( "Abdominal Epilepsy"^^xsd:string) AnnotationAssertion( "Amygdalo-Hippocampal Epilepsy"^^xsd:string) AnnotationAssertion( "Benign Occipital Epilepsy"^^xsd:string) AnnotationAssertion( "Childhood Benign Focal Epilepsy"^^xsd:string) AnnotationAssertion( "Childhood Benign Occipital Epilepsy"^^xsd:string) AnnotationAssertion( "Digestive Epilepsy"^^xsd:string) AnnotationAssertion( "Epilepsies, Partial"^^xsd:string) AnnotationAssertion( "FOCAL-ONSET SEIZURE"^^xsd:string) AnnotationAssertion( "Focal Epilepsies"^^xsd:string) AnnotationAssertion( "Focal Seizure Disorder"^^xsd:string) AnnotationAssertion( "Focal Seizure Disorders"^^xsd:string) AnnotationAssertion( "Gelastic Epilepsies"^^xsd:string) AnnotationAssertion( "Gelastic Epilepsy"^^xsd:string) AnnotationAssertion( "Localization-Related Epilepsies"^^xsd:string) AnnotationAssertion( "Localization-Related Epilepsy"^^xsd:string) AnnotationAssertion( "Occipital Lobe Epilepsies"^^xsd:string) AnnotationAssertion( "Occipital Lobe Epilepsy"^^xsd:string) AnnotationAssertion( "Partial Epilepsy"^^xsd:string) AnnotationAssertion( "Partial Seizure Disorder"^^xsd:string) AnnotationAssertion( "Partial Seizure Disorders"^^xsd:string) AnnotationAssertion( "Partial Seizures, Simple, Consciousness Preserved"^^xsd:string) AnnotationAssertion( "Rhinencephalic Epilepsies"^^xsd:string) AnnotationAssertion( "Rhinencephalic Epilepsy"^^xsd:string) AnnotationAssertion( "abdominal epilepsies"^^xsd:string) AnnotationAssertion( "amygdalo-hippocampal epilepsies"^^xsd:string) AnnotationAssertion( "benign occipital epilepsies"^^xsd:string) AnnotationAssertion( "digestive epilepsies"^^xsd:string) AnnotationAssertion( "localisation-related epilepsy"^^xsd:string) AnnotationAssertion( "subclinical seizure"^^xsd:string) AnnotationAssertion( "subclinical seizures"^^xsd:string) AnnotationAssertion( "uncinate seizure"^^xsd:string) AnnotationAssertion( "uncinate seizures"^^xsd:string) AnnotationAssertion( "FOCAL SEIZURES WITH IMPAIRMENT OF CONSCIOUSNESS OR AWARENESS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2234"^^xsd:string) AnnotationAssertion(rdfs:label "focal epilepsy"^^xsd:string) SubClassOf( ) # Class: (prothrombin deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/prothrombin-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30306070"^^xsd:string) Annotation( "https://www.omim.org/entry/613679"^^xsd:string) Annotation( "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325"^^xsd:string) "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007020"^^xsd:string) AnnotationAssertion( "NCI:C131737"^^xsd:string) AnnotationAssertion( "NCI:C26799"^^xsd:string) AnnotationAssertion( "ORDO:325"^^xsd:string) AnnotationAssertion( "Congenital factor II deficiency"^^xsd:string) AnnotationAssertion( "factor II deficiencies"^^xsd:string) AnnotationAssertion( "factor II deficiency"^^xsd:string) AnnotationAssertion( "hypoprothrombinemia"^^xsd:string) AnnotationAssertion( "hypoprothrombinemias"^^xsd:string) AnnotationAssertion( "prothrombin deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2235"^^xsd:string) AnnotationAssertion(rdfs:label "prothrombin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (congenital afibrinogenemia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms"^^xsd:string) "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). (DO)"^^xsd:string) AnnotationAssertion( "MIM:202400"^^xsd:string) AnnotationAssertion( "GARD:5761"^^xsd:string) AnnotationAssertion( "MESH:D000347"^^xsd:string) AnnotationAssertion( "NCI:C98130"^^xsd:string) AnnotationAssertion( "Congenital Afibrinogenaemia"^^xsd:string) AnnotationAssertion( "Congenital Afibrinogenaemias"^^xsd:string) AnnotationAssertion( "Congenital Afibrinogenemias"^^xsd:string) AnnotationAssertion( "Congenital Hypofibrinogenemias"^^xsd:string) AnnotationAssertion( "Familial Afibrinogenemia"^^xsd:string) AnnotationAssertion( "Familial Afibrinogenemias"^^xsd:string) AnnotationAssertion( "Fibrinogen Deficiencies"^^xsd:string) AnnotationAssertion( "Fibrinogen Deficiency"^^xsd:string) AnnotationAssertion( "afibrinogenemia"^^xsd:string) AnnotationAssertion( "afibrinogenemias"^^xsd:string) AnnotationAssertion( "congenital hypofibrinogenemia"^^xsd:string) AnnotationAssertion( "factor I deficiency"^^xsd:string) AnnotationAssertion( "hypofibrinogenemia"^^xsd:string) AnnotationAssertion( "FGB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FIBRINOGEN PARIS 1"^^xsd:string) AnnotationAssertion( "DOID:2236"^^xsd:string) AnnotationAssertion(rdfs:label "congenital afibrinogenemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hepatitis) AnnotationAssertion(Annotation( "MESH:D006505"^^xsd:string) "INFLAMMATION of the LIVER."^^xsd:string) AnnotationAssertion( "ICD10CM:K73.9"^^xsd:string) AnnotationAssertion( "ICD9CM:570"^^xsd:string) AnnotationAssertion( "ICD9CM:571.4"^^xsd:string) AnnotationAssertion( "ICD9CM:571.41"^^xsd:string) AnnotationAssertion( "MESH:D006505"^^xsd:string) AnnotationAssertion( "NCI:C82978"^^xsd:string) AnnotationAssertion( "hepatitides"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:197268000"^^xsd:string) "acute and subacute liver necrosis"^^xsd:string) AnnotationAssertion( "acute hepatitis"^^xsd:string) AnnotationAssertion( "acute/subac. necrosis of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2237"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis"^^xsd:string) SubClassOf( ) # Class: (granulomatous hepatitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27015"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2239"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous hepatitis"^^xsd:string) SubClassOf( ) # Class: (transient cerebral ischemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Transient_ischemic_attack"^^xsd:string) "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003764"^^xsd:string) AnnotationAssertion( "ICD10CM:G45.9"^^xsd:string) AnnotationAssertion( "MESH:D002546"^^xsd:string) AnnotationAssertion( "NCI:C50781"^^xsd:string) AnnotationAssertion( "Brain Stem Ischemia, Transient"^^xsd:string) AnnotationAssertion( "Brain Stem Transient Ischemic Attack"^^xsd:string) AnnotationAssertion( "Brain TIA"^^xsd:string) AnnotationAssertion( "Brainstem Transient Ischemic Attack"^^xsd:string) AnnotationAssertion( "Carotid Circulation Transient Ischemic Attack"^^xsd:string) AnnotationAssertion( "Posterior Circulation Transient Ischemic Attack"^^xsd:string) AnnotationAssertion( "TIA"^^xsd:string) AnnotationAssertion( "TIA (Transient Ischemic Attack)"^^xsd:string) AnnotationAssertion( "TIA - transient ischaemic attack"^^xsd:string) AnnotationAssertion( "Transient Brainstem Ischemia"^^xsd:string) AnnotationAssertion( "Transient Cerebral Ischemias"^^xsd:string) AnnotationAssertion( "Transient cerebral ischaemia"^^xsd:string) AnnotationAssertion( "anterior circulation transient ischemic attack"^^xsd:string) AnnotationAssertion( "crescendo transient ischemic attacks"^^xsd:string) AnnotationAssertion( "transient brainstem ischemias"^^xsd:string) AnnotationAssertion( "transient ischemic attack"^^xsd:string) AnnotationAssertion( "transient ischemic attacks"^^xsd:string) AnnotationAssertion( "vertebrobasilar circulation transient ischemic attack"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brain Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Brain Reperfusion Injury"^^xsd:string) AnnotationAssertion( "DOID:224"^^xsd:string) AnnotationAssertion(rdfs:label "transient cerebral ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondylosis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/cervical-spondylosis/DS00697"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm"^^xsd:string) Annotation( "http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means"^^xsd:string) Annotation( "https://www.spineuniverse.com/conditions/spondylosis/spondylosis"^^xsd:string) "A bone structure disease that involves degeneration between vertebra located_in vertebral column. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184300"^^xsd:string) AnnotationAssertion( "EFO:0009610"^^xsd:string) AnnotationAssertion( "ICD10CM:M47"^^xsd:string) AnnotationAssertion( "ICD10CM:M47.9"^^xsd:string) AnnotationAssertion( "ICD9CM:721.9"^^xsd:string) AnnotationAssertion( "MESH:D055009"^^xsd:string) AnnotationAssertion( "MONDO:0002253"^^xsd:string) AnnotationAssertion( "Spondylosis Deformans"^^xsd:string) AnnotationAssertion( "spondylosis with myelopathy"^^xsd:string) AnnotationAssertion( "cervical spondylosis"^^xsd:string) AnnotationAssertion( "lumbar spondylosis with myelopathy"^^xsd:string) AnnotationAssertion( "lumbarsacral spondylosis"^^xsd:string) AnnotationAssertion( "lumbosacral spondylosis without myelopathy"^^xsd:string) AnnotationAssertion( "spondylogenic compression of lumbar spinal cord"^^xsd:string) AnnotationAssertion( "spondylogenic compression of thoracic spinal cord"^^xsd:string) AnnotationAssertion( "thoracic or lumbar spondylosis with myelopathy"^^xsd:string) AnnotationAssertion( "thoracic spondylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2247"^^xsd:string) AnnotationAssertion(rdfs:label "spondylosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndrome) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome"^^xsd:string) "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013577"^^xsd:string) AnnotationAssertion( "NCI:C28193"^^xsd:string) AnnotationAssertion( "symptom cluster"^^xsd:string) AnnotationAssertion( "symptom clusters"^^xsd:string) AnnotationAssertion( "syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:225"^^xsd:string) AnnotationAssertion(rdfs:label "syndrome"^^xsd:string) SubClassOf( ) # Class: (hypertrophic elongation of cervix) AnnotationAssertion( "ICD10CM:N88.4"^^xsd:string) AnnotationAssertion( "ICD9CM:622.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2251"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrophic elongation of cervix"^^xsd:string) SubClassOf( ) # Class: (cervix disease) AnnotationAssertion(Annotation( "https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease"^^xsd:string) "An uterine disease that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002577"^^xsd:string) AnnotationAssertion( "NCI:C40241"^^xsd:string) AnnotationAssertion( "cervix diseases"^^xsd:string) AnnotationAssertion( "uterine cervical disease"^^xsd:string) AnnotationAssertion( "uterine cervical diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2253"^^xsd:string) AnnotationAssertion(rdfs:label "cervix disease"^^xsd:string) SubClassOf( ) # Class: (osteochondrodysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteochondrodysplasia"^^xsd:string) "A bone development disease that results_in defective development of cartilage or bone. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000187"^^xsd:string) AnnotationAssertion( "OMIA:001315"^^xsd:string) AnnotationAssertion( "OMIA:001886"^^xsd:string) AnnotationAssertion( "TRIP11-related condition"^^xsd:string) AnnotationAssertion( "EFO:0005571"^^xsd:string) AnnotationAssertion( "GARD:6051"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.9"^^xsd:string) AnnotationAssertion( "ICD9CM:756.4"^^xsd:string) AnnotationAssertion( "MESH:D010009"^^xsd:string) AnnotationAssertion( "MONDO:0005516"^^xsd:string) AnnotationAssertion( "NCI:C34466"^^xsd:string) AnnotationAssertion( "NCI:C84978"^^xsd:string) AnnotationAssertion( "Late Spondyloepiphyseal Dysplasia"^^xsd:string) AnnotationAssertion( "Multiple Epiphyseal Dysplasia"^^xsd:string) AnnotationAssertion( "SJA syndrome"^^xsd:string) AnnotationAssertion( "SOST sclerosing bone dysplasia"^^xsd:string) AnnotationAssertion( "cartilage development disorder"^^xsd:string) AnnotationAssertion( "chondrodystrophic myotonia"^^xsd:string) AnnotationAssertion( "chondrodystrophy"^^xsd:string) AnnotationAssertion( "congenital anomaly of cartilage"^^xsd:string) AnnotationAssertion( "dyschondroplasia"^^xsd:string) AnnotationAssertion( "dyschondroplasias"^^xsd:string) AnnotationAssertion( "late onset spondyloepiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities"^^xsd:string) AnnotationAssertion( "osteochondrodysplasia syndrome"^^xsd:string) AnnotationAssertion( "osteochondrodysplasias"^^xsd:string) AnnotationAssertion( "skeletal dysplasia"^^xsd:string) AnnotationAssertion( "spondylo-epimetaphyseal dysplasia with myotonia"^^xsd:string) AnnotationAssertion( "chondrodysplasia"^^xsd:string) AnnotationAssertion( "chondrodysplasia, disproportionate short-limbed"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2256"^^xsd:string) AnnotationAssertion(rdfs:label "osteochondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ankylosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ankylosis"^^xsd:string) "An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M24.6"^^xsd:string) AnnotationAssertion( "ICD9CM:718.5"^^xsd:string) AnnotationAssertion( "MESH:D000844"^^xsd:string) AnnotationAssertion( "NCI:C171941"^^xsd:string) AnnotationAssertion( "ankyloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:227"^^xsd:string) AnnotationAssertion(rdfs:label "ankylosis"^^xsd:string) SubClassOf( ) # Class: (vulvovaginal candidiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis"^^xsd:string) Annotation( "http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string) "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007543"^^xsd:string) AnnotationAssertion( "ICD10CM:B37.3"^^xsd:string) AnnotationAssertion( "ICD9CM:112.1"^^xsd:string) AnnotationAssertion( "MESH:D002181"^^xsd:string) AnnotationAssertion( "NCI:C2914"^^xsd:string) AnnotationAssertion( "Monilial Vaginitis"^^xsd:string) AnnotationAssertion( "candidal cervix"^^xsd:string) AnnotationAssertion( "candidal vulvovaginitis"^^xsd:string) AnnotationAssertion( "candidiasis of vulva and vagina"^^xsd:string) AnnotationAssertion( "monilial vaginitides"^^xsd:string) AnnotationAssertion( "monilial vulvovaginitis"^^xsd:string) AnnotationAssertion( "vulvovaginal candidiases"^^xsd:string) AnnotationAssertion( "vulvovaginal moniliases"^^xsd:string) AnnotationAssertion( "vulvovaginal moniliasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2272"^^xsd:string) AnnotationAssertion(rdfs:label "vulvovaginal candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvovaginitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26001874"^^xsd:string) "A female reproductive system disease that is characterized by inflammation of the vagina and vulva. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001240"^^xsd:string) AnnotationAssertion( "ICD10CM:N76.0"^^xsd:string) AnnotationAssertion( "MESH:D014848"^^xsd:string) AnnotationAssertion( "NCI:C35131"^^xsd:string) AnnotationAssertion( "vulvo-vaginitis"^^xsd:string) AnnotationAssertion( "vulvovaginitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2273"^^xsd:string) AnnotationAssertion(rdfs:label "vulvovaginitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pharyngitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pharyngitis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016"^^xsd:string) "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009657"^^xsd:string) AnnotationAssertion( "ICD10CM:J02"^^xsd:string) AnnotationAssertion( "ICD9CM:462"^^xsd:string) AnnotationAssertion( "ICD9CM:472"^^xsd:string) AnnotationAssertion( "ICD9CM:478.20"^^xsd:string) AnnotationAssertion( "MESH:D010612"^^xsd:string) AnnotationAssertion( "NCI:C26850"^^xsd:string) AnnotationAssertion( "NCI:C26851"^^xsd:string) AnnotationAssertion( "NCI:C34355"^^xsd:string) AnnotationAssertion( "Pharyngitides"^^xsd:string) AnnotationAssertion( "Sore Throat"^^xsd:string) AnnotationAssertion( "chronic pharyn/nasopharyngitis"^^xsd:string) AnnotationAssertion( "chronic pharyngitis and nasopharyngitis"^^xsd:string) AnnotationAssertion( "inflamed throat"^^xsd:string) AnnotationAssertion( "persistent sore throat"^^xsd:string) AnnotationAssertion( "pharyngeal disorder"^^xsd:string) AnnotationAssertion( "sore throats"^^xsd:string) AnnotationAssertion( "Sore throat - chronic"^^xsd:string) AnnotationAssertion( "acute pharyngitis"^^xsd:string) AnnotationAssertion( "acute sore throat"^^xsd:string) AnnotationAssertion( "chronic pharyngitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2275"^^xsd:string) AnnotationAssertion(rdfs:label "pharyngitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gonadal disease) AnnotationAssertion(Annotation( "https://www.nature.com/subjects/gonadal-disorders"^^xsd:string) "An endocrine system disease that is located_in the gonads. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006058"^^xsd:string) AnnotationAssertion( "MIM:PS176400"^^xsd:string) AnnotationAssertion( "NCI:C26786"^^xsd:string) AnnotationAssertion( "gonadal disorder"^^xsd:string) AnnotationAssertion( "gonadal disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2277"^^xsd:string) AnnotationAssertion(rdfs:label "gonadal disease"^^xsd:string) SubClassOf( ) # Class: (hidradenitis suppurativa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/"^^xsd:string) "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000710"^^xsd:string) AnnotationAssertion( "GARD:6658"^^xsd:string) AnnotationAssertion( "ICD10CM:L73.2"^^xsd:string) AnnotationAssertion( "MESH:D017497"^^xsd:string) AnnotationAssertion( "MIM:PS142690"^^xsd:string) AnnotationAssertion( "NCI:C128429"^^xsd:string) AnnotationAssertion( "acne inversa"^^xsd:string) AnnotationAssertion( "acne inversa, familial"^^xsd:string) AnnotationAssertion( "acne inversas"^^xsd:string) AnnotationAssertion( "suppurative hidradenitides"^^xsd:string) AnnotationAssertion( "suppurative hidradenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2280"^^xsd:string) AnnotationAssertion(rdfs:label "hidradenitis suppurativa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hidradenitis) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.09d&code=C112190&ns=ncit&type=properties&key=null&b=1&n=0&vse=null"^^xsd:string) "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:705.83"^^xsd:string) AnnotationAssertion( "MESH:D016575"^^xsd:string) AnnotationAssertion( "NCI:C112190"^^xsd:string) AnnotationAssertion( "Hidrosadenitis"^^xsd:string) AnnotationAssertion( "Hydradenitides"^^xsd:string) AnnotationAssertion( "Hydradenitis"^^xsd:string) AnnotationAssertion( "hidradenitides"^^xsd:string) AnnotationAssertion( "hidrosadenitides"^^xsd:string) AnnotationAssertion( "neutrophilic eccrine hidradenitides"^^xsd:string) AnnotationAssertion( "neutrophilic eccrine hidradenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2282"^^xsd:string) AnnotationAssertion(rdfs:label "hidradenitis"^^xsd:string) SubClassOf( ) # Class: (keratopathy) AnnotationAssertion( "A non-inflammatory disease of the cornea."^^xsd:string) AnnotationAssertion( "NCI:C27012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2283"^^xsd:string) AnnotationAssertion(rdfs:label "keratopathy"^^xsd:string) SubClassOf( ) # Class: (capillary lymphangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9171/0"^^xsd:string) AnnotationAssertion( "NCI:C27509"^^xsd:string) AnnotationAssertion( "cutaneous lymphangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2286"^^xsd:string) AnnotationAssertion(rdfs:label "capillary lymphangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female reproductive system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Female_reproductive_system"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Reproductive_system_disease"^^xsd:string) "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008622"^^xsd:string) AnnotationAssertion( "EFO:0009549"^^xsd:string) AnnotationAssertion( "EFO:0010685"^^xsd:string) AnnotationAssertion( "ICD9CM:629.9"^^xsd:string) AnnotationAssertion( "MESH:D005831"^^xsd:string) AnnotationAssertion( "Female Genital Disease"^^xsd:string) AnnotationAssertion( "Female Genital Diseases"^^xsd:string) AnnotationAssertion( "Gynecologic Disease"^^xsd:string) AnnotationAssertion( "Gynecologic Diseases"^^xsd:string) AnnotationAssertion( "female genital tract polyp"^^xsd:string) AnnotationAssertion( "menopausal or post-menopausal disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:229"^^xsd:string) AnnotationAssertion(rdfs:label "female reproductive system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leptospirosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leptospirosis"^^xsd:string) "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007344"^^xsd:string) AnnotationAssertion( "GARD:7881"^^xsd:string) AnnotationAssertion( "ICD10CM:A27"^^xsd:string) AnnotationAssertion( "ICD10CM:A27.0"^^xsd:string) AnnotationAssertion( "ICD9CM:100"^^xsd:string) AnnotationAssertion( "ICD9CM:100.0"^^xsd:string) AnnotationAssertion( "MESH:D007922"^^xsd:string) AnnotationAssertion( "NCI:C84825"^^xsd:string) AnnotationAssertion( "Fort Bragg fever"^^xsd:string) AnnotationAssertion( "Stuttgart disease"^^xsd:string) AnnotationAssertion( "cane cutter fever"^^xsd:string) AnnotationAssertion( "leptospira canicola infection"^^xsd:string) AnnotationAssertion( "leptospira canicola infections"^^xsd:string) AnnotationAssertion( "leptospiroses"^^xsd:string) AnnotationAssertion( "leptospirosis canicola"^^xsd:string) AnnotationAssertion( "leptospirosis canicolas"^^xsd:string) AnnotationAssertion( "leptospirosis icterohaemorrhagica"^^xsd:string) AnnotationAssertion( "mud fever"^^xsd:string) AnnotationAssertion( "nanukayami fever"^^xsd:string) AnnotationAssertion( "rat catcher's yellows"^^xsd:string) AnnotationAssertion( "rice field fever"^^xsd:string) AnnotationAssertion( "spirochetal jaundice"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2297"^^xsd:string) AnnotationAssertion(rdfs:label "leptospirosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lateral sclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_lateral_sclerosis"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract"^^xsd:string) "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:611637"^^xsd:string) AnnotationAssertion( "RDO:0015114"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.23"^^xsd:string) AnnotationAssertion( "ICD9CM:335.24"^^xsd:string) AnnotationAssertion( "MESH:C566900"^^xsd:string) AnnotationAssertion( "NCI:C129933"^^xsd:string) AnnotationAssertion( "ORDO:35689"^^xsd:string) AnnotationAssertion( "PLS, Adult"^^xsd:string) AnnotationAssertion( "PLSA"^^xsd:string) AnnotationAssertion( "PLSA1"^^xsd:string) AnnotationAssertion( "adult-onset primary lateral sclerosis"^^xsd:string) AnnotationAssertion( "lateral scleroses"^^xsd:string) AnnotationAssertion( "primary lateral scleroses"^^xsd:string) AnnotationAssertion( "primary lateral sclerosis"^^xsd:string) AnnotationAssertion( "primary lateral sclerosis, adult, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:230"^^xsd:string) AnnotationAssertion(rdfs:label "lateral sclerosis"^^xsd:string) SubClassOf( ) # Class: (spondylolysis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondylolysis"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx"^^xsd:string) Annotation( "http://orthoinfo.aaos.org/topic.cfm?topic=a00053"^^xsd:string) Annotation( "http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm"^^xsd:string) "A bone structure disease that involves a defect located_in lumbar vertebral column. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005649"^^xsd:string) AnnotationAssertion( "ICD10CM:M43.0"^^xsd:string) AnnotationAssertion( "MESH:D013169"^^xsd:string) AnnotationAssertion( "NCI:C35034"^^xsd:string) AnnotationAssertion( "Spondylolyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2300"^^xsd:string) AnnotationAssertion(rdfs:label "spondylolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atrophy of prostate) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:602.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2301"^^xsd:string) AnnotationAssertion(rdfs:label "atrophy of prostate"^^xsd:string) SubClassOf( ) # Class: (stereotypic movement disorder) AnnotationAssertion(Annotation( "https://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder"^^xsd:string) "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F98.4"^^xsd:string) AnnotationAssertion( "ICD9CM:307.3"^^xsd:string) AnnotationAssertion( "MESH:D019956"^^xsd:string) AnnotationAssertion( "body rocking"^^xsd:string) AnnotationAssertion( "head banging"^^xsd:string) AnnotationAssertion( "stereotyped repetitive movements"^^xsd:string) AnnotationAssertion( "stereotypic movement disorders"^^xsd:string) AnnotationAssertion( "stereotypy habit disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2303"^^xsd:string) AnnotationAssertion(rdfs:label "stereotypic movement disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (motor neuron disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Motor_neuron_disease"^^xsd:string) "A neurodegenerative disease that is located_in the motor neurons. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003782"^^xsd:string) AnnotationAssertion( "ICD9CM:335.2"^^xsd:string) AnnotationAssertion( "MESH:D016472"^^xsd:string) AnnotationAssertion( "Lower Motor Neuron Disease"^^xsd:string) AnnotationAssertion( "Motor System Disease"^^xsd:string) AnnotationAssertion( "Motor System Diseases"^^xsd:string) AnnotationAssertion( "familial motor neuron disease"^^xsd:string) AnnotationAssertion( "motor neuron diseases"^^xsd:string) AnnotationAssertion( "secondary motor neuron disease"^^xsd:string) AnnotationAssertion( "upper motor neuron disease"^^xsd:string) AnnotationAssertion( "MADRAS MOTOR NEURON DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:231"^^xsd:string) AnnotationAssertion(rdfs:label "motor neuron disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nocardiosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nocardiosis"^^xsd:string) "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007397"^^xsd:string) AnnotationAssertion( "GARD:7210"^^xsd:string) AnnotationAssertion( "ICD10CM:A43"^^xsd:string) AnnotationAssertion( "MESH:D009617"^^xsd:string) AnnotationAssertion( "NCI:C171147"^^xsd:string) AnnotationAssertion( "Cerebral Nocardioses"^^xsd:string) AnnotationAssertion( "Cerebral Nocardiosis"^^xsd:string) AnnotationAssertion( "Nocardia Infection"^^xsd:string) AnnotationAssertion( "Nocardia infectious disease"^^xsd:string) AnnotationAssertion( "Nocardioses"^^xsd:string) AnnotationAssertion( "Primary Cutaneous Nocardioses"^^xsd:string) AnnotationAssertion( "Primary Cutaneous Nocardiosis"^^xsd:string) AnnotationAssertion( "nocardia infections"^^xsd:string) AnnotationAssertion( "pulmonary nocardioses"^^xsd:string) AnnotationAssertion( "pulmonary nocardiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2312"^^xsd:string) AnnotationAssertion(rdfs:label "nocardiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malt worker's lung) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis"^^xsd:string) Annotation( "http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm"^^xsd:string) "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.4"^^xsd:string) AnnotationAssertion( "ICD9CM:495.4"^^xsd:string) AnnotationAssertion( "alveolitis due to aspergillus clavatus"^^xsd:string) AnnotationAssertion( "malt worker lung"^^xsd:string) AnnotationAssertion( "malt-workers' lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2314"^^xsd:string) AnnotationAssertion(rdfs:label "malt worker's lung"^^xsd:string) SubClassOf( ) # Class: (brain ischemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brain_ischemia"^^xsd:string) Annotation( "https://www.columbianeurosurgery.org/conditions/cerebral-ischemia/"^^xsd:string) "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003883"^^xsd:string) AnnotationAssertion( "MESH:D002545"^^xsd:string) AnnotationAssertion( "MONDO:0005299"^^xsd:string) AnnotationAssertion( "Cerebral Hypoperfusion"^^xsd:string) AnnotationAssertion( "Cerebral Ischemias"^^xsd:string) AnnotationAssertion( "Ischaemic encephalopathy"^^xsd:string) AnnotationAssertion( "brain ischemias"^^xsd:string) AnnotationAssertion( "cerebral ischemia"^^xsd:string) AnnotationAssertion( "ischemic encephalopathies"^^xsd:string) AnnotationAssertion( "ischemic encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2316"^^xsd:string) AnnotationAssertion(rdfs:label "brain ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (obstructive lung disease) AnnotationAssertion(Annotation( "https://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/"^^xsd:string) "A lung disease that is characterized by narrowing of pulmonary airways. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008173"^^xsd:string) AnnotationAssertion( "obstructive lung diseases"^^xsd:string) AnnotationAssertion( "obstructive pulmonary disease"^^xsd:string) AnnotationAssertion( "obstructive pulmonary diseases"^^xsd:string) AnnotationAssertion( "respiratory airway obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2320"^^xsd:string) AnnotationAssertion(rdfs:label "obstructive lung disease"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (gastroenteritis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec09/ch122/ch122a.html"^^xsd:string) "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001463"^^xsd:string) AnnotationAssertion( "ICD10CM:K52.9"^^xsd:string) AnnotationAssertion( "MESH:D005759"^^xsd:string) AnnotationAssertion( "NCI:C34632"^^xsd:string) AnnotationAssertion( "gastroenteritides"^^xsd:string) AnnotationAssertion( "infectious colitis, enteritis and gastroenteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2326"^^xsd:string) AnnotationAssertion(rdfs:label "gastroenteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (viral gastritis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec02/ch013/ch013c.html"^^xsd:string) "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27184"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2327"^^xsd:string) AnnotationAssertion(rdfs:label "viral gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mandibular cancer) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178"^^xsd:string) "A jaw cancer and mandibular disease that affects your lower jawbone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007356"^^xsd:string) AnnotationAssertion( "ICD10CM:C41.1"^^xsd:string) AnnotationAssertion( "ICD9CM:170.1"^^xsd:string) AnnotationAssertion( "NCI:C35178"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:170.1"^^xsd:string) "malignant neoplasm of inferior maxilla"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35178"^^xsd:string) "malignant neoplasm of lower Jaw bone"^^xsd:string) AnnotationAssertion( "malignant neoplasm of mandible"^^xsd:string) AnnotationAssertion( "mandible cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2338"^^xsd:string) AnnotationAssertion(rdfs:label "mandibular cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crouzon syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Crouzon_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/crouzon-syndrome"^^xsd:string) Annotation( "http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm"^^xsd:string) Annotation( "https://www.faces-cranio.org/crouzon"^^xsd:string) "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123500"^^xsd:string) AnnotationAssertion( "GARD:6206"^^xsd:string) AnnotationAssertion( "ICD10CM:Q75.1"^^xsd:string) AnnotationAssertion( "MESH:D003394"^^xsd:string) AnnotationAssertion( "NCI:C84653"^^xsd:string) AnnotationAssertion( "CFD1"^^xsd:string) AnnotationAssertion( "Craniofacial Dysarthrosis"^^xsd:string) AnnotationAssertion( "Craniofacial Dysostosis"^^xsd:string) AnnotationAssertion( "Craniofacial Dysostosis Syndrome"^^xsd:string) AnnotationAssertion( "Craniofacial Dysostosis Syndromes"^^xsd:string) AnnotationAssertion( "Craniofacial Dysostosis Type 1"^^xsd:string) AnnotationAssertion( "Craniofacial Dysostosis, Type I"^^xsd:string) AnnotationAssertion( "Crouzon Craniofacial Dysostosis"^^xsd:string) AnnotationAssertion( "Crouzon Disease"^^xsd:string) AnnotationAssertion( "Crouzon's disease"^^xsd:string) AnnotationAssertion( "Crouzons disease"^^xsd:string) AnnotationAssertion( "craniofacial dysarthroses"^^xsd:string) AnnotationAssertion( "craniofacial dysostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2339"^^xsd:string) AnnotationAssertion(rdfs:label "Crouzon syndrome"^^xsd:string) SubClassOf( ) # Class: (colon adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A colon carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000362"^^xsd:string) AnnotationAssertion( "EFO:1001949"^^xsd:string) AnnotationAssertion( "NCI:C120044"^^xsd:string) AnnotationAssertion( "NCI:C4349"^^xsd:string) AnnotationAssertion( "adenocarcinoma of colon"^^xsd:string) AnnotationAssertion( "colonic adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the colon"^^xsd:string) AnnotationAssertion( "DOID:234"^^xsd:string) AnnotationAssertion(rdfs:label "colon adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (craniosynostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Craniosynostosis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/craniosynostosis/DS00959"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm"^^xsd:string) "A synostosis that results_in premature fusion located_in skull. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123100"^^xsd:string) AnnotationAssertion( "OMIA:001551"^^xsd:string) AnnotationAssertion( "EFO:0009141"^^xsd:string) AnnotationAssertion( "GARD:6209"^^xsd:string) AnnotationAssertion( "ICD10CM:Q75.0"^^xsd:string) AnnotationAssertion( "MESH:D003398"^^xsd:string) AnnotationAssertion( "MIM:PS123100"^^xsd:string) AnnotationAssertion( "NCI:C84655"^^xsd:string) AnnotationAssertion( "ORDO:1531"^^xsd:string) AnnotationAssertion( "Acrocephaly"^^xsd:string) AnnotationAssertion( "Brachycephaly"^^xsd:string) AnnotationAssertion( "CRANIOSYNOSTOSIS 1"^^xsd:string) AnnotationAssertion( "CRS"^^xsd:string) AnnotationAssertion( "CRS1"^^xsd:string) AnnotationAssertion( "Craniostenosis"^^xsd:string) AnnotationAssertion( "Craniosynostose"^^xsd:string) AnnotationAssertion( "Craniosynostosis Plagiocephaly"^^xsd:string) AnnotationAssertion( "Craniosynostosis, nonsyndromic unicoronal"^^xsd:string) AnnotationAssertion( "Lambdoid Synostosis"^^xsd:string) AnnotationAssertion( "Lambdoidal Craniosynostosis"^^xsd:string) AnnotationAssertion( "Metopic Synostoses"^^xsd:string) AnnotationAssertion( "Metopic Synostosis"^^xsd:string) AnnotationAssertion( "Oxycephaly"^^xsd:string) AnnotationAssertion( "Sagittal Synostoses"^^xsd:string) AnnotationAssertion( "Sagittal Synostosis"^^xsd:string) AnnotationAssertion( "Scaphocephaly"^^xsd:string) AnnotationAssertion( "Synostotic Anterior Plagiocephaly"^^xsd:string) AnnotationAssertion( "Synostotic Plagiocephaly"^^xsd:string) AnnotationAssertion( "Synostotic Posterior Plagiocephaly"^^xsd:string) AnnotationAssertion( "craniostenoses"^^xsd:string) AnnotationAssertion( "craniosynostoses"^^xsd:string) AnnotationAssertion( "craniosynostoses type 1"^^xsd:string) AnnotationAssertion( "craniosynostosis type 1"^^xsd:string) AnnotationAssertion( "lambdoid synostoses"^^xsd:string) AnnotationAssertion( "lambdoidal craniosynostoses"^^xsd:string) AnnotationAssertion( "premature closure of cranial sutures"^^xsd:string) AnnotationAssertion( "trigonocephaly"^^xsd:string) AnnotationAssertion( "unilateral coronal synostoses"^^xsd:string) AnnotationAssertion( "unilateral coronal synostosis"^^xsd:string) AnnotationAssertion( "CRANIOSYNOSTOSIS, NONSPECIFIC"^^xsd:string) AnnotationAssertion( "FGFR2 RELATED CRANIOSYNOSTOSIS"^^xsd:string) AnnotationAssertion( "SYNDROMIC CRANIOSYNOSTOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2340"^^xsd:string) AnnotationAssertion(rdfs:label "craniosynostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyclonal hypergammaglobulinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D89.0"^^xsd:string) AnnotationAssertion( "ICD9CM:273.0"^^xsd:string) AnnotationAssertion( "NCI:C35885"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2344"^^xsd:string) AnnotationAssertion(rdfs:label "polyclonal hypergammaglobulinemia"^^xsd:string) SubClassOf( ) # Class: (plasma protein metabolism disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blood_protein"^^xsd:string) "An inherited metabolic disorder that involves plasma protein metabolism malfunction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:273.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2345"^^xsd:string) AnnotationAssertion(rdfs:label "plasma protein metabolism disease"^^xsd:string) SubClassOf( ) # Class: (monoclonal paraproteinemia) AnnotationAssertion( "ICD9CM:273.1"^^xsd:string) AnnotationAssertion( "NCI:C35878"^^xsd:string) AnnotationAssertion( "monoclonal paraproteinaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2346"^^xsd:string) AnnotationAssertion(rdfs:label "monoclonal paraproteinemia"^^xsd:string) SubClassOf( ) # Class: (generalized atherosclerosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I70.91"^^xsd:string) AnnotationAssertion( "ICD9CM:440.9"^^xsd:string) AnnotationAssertion( "NCI:C35767"^^xsd:string) AnnotationAssertion( "generalised atherosclerosis"^^xsd:string) AnnotationAssertion( "generalized and unspecified atherosclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2347"^^xsd:string) AnnotationAssertion(rdfs:label "generalized atherosclerosis"^^xsd:string) SubClassOf( ) # Class: (arteriosclerotic cardiovascular disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C34403"^^xsd:string) AnnotationAssertion( "RDO:9002214"^^xsd:string) AnnotationAssertion( "cardiovascular arteriosclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Atherosclerotic Cardiovascular disease"^^xsd:string) AnnotationAssertion( "cardiovascular arteriosclerosis unspecified"^^xsd:string) AnnotationAssertion( "DOID:2348"^^xsd:string) AnnotationAssertion(rdfs:label "arteriosclerotic cardiovascular disease"^^xsd:string) SubClassOf( ) # Class: (arteriosclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arteriosclerosis"^^xsd:string) "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009086"^^xsd:string) AnnotationAssertion( "MESH:D001161"^^xsd:string) AnnotationAssertion( "NCI:C34398"^^xsd:string) AnnotationAssertion( "arterioscleroses"^^xsd:string) AnnotationAssertion( "arteriosclerotic vascular disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2349"^^xsd:string) AnnotationAssertion(rdfs:label "arteriosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colonic benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "An intestinal benign neoplasm that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C2953"^^xsd:string) AnnotationAssertion( "colonic mass"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:235"^^xsd:string) AnnotationAssertion(rdfs:label "colonic benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (iron metabolism disease) AnnotationAssertion(Annotation( "MESH:D019189"^^xsd:string) "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)"^^xsd:string) AnnotationAssertion( "ICD9CM:275.0"^^xsd:string) AnnotationAssertion( "MESH:D019189"^^xsd:string) AnnotationAssertion( "disorder of iron metabolism"^^xsd:string) AnnotationAssertion( "iron disorder"^^xsd:string) AnnotationAssertion( "iron metabolism disorder"^^xsd:string) AnnotationAssertion( "iron metabolism disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2351"^^xsd:string) AnnotationAssertion(rdfs:label "iron metabolism disease"^^xsd:string) SubClassOf( ) # Class: (hemochromatosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hemochromatosis"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract"^^xsd:string) "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000642"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.11"^^xsd:string) AnnotationAssertion( "MESH:D006432"^^xsd:string) AnnotationAssertion( "MIM:PS235200"^^xsd:string) AnnotationAssertion( "NCI:C84481"^^xsd:string) AnnotationAssertion( "ORDO:139498"^^xsd:string) AnnotationAssertion( "Bronze Diabetes"^^xsd:string) AnnotationAssertion( "Familial Hemochromatoses"^^xsd:string) AnnotationAssertion( "Familial Hemochromatosis"^^xsd:string) AnnotationAssertion( "Genetic Hemochromatoses"^^xsd:string) AnnotationAssertion( "Genetic Hemochromatosis"^^xsd:string) AnnotationAssertion( "HEMOCHROMATOSIS, HEREDITARY"^^xsd:string) AnnotationAssertion( "HEMOCHROMATOSIS, JUVENILE, DIGENIC"^^xsd:string) AnnotationAssertion( "HFE"^^xsd:string) AnnotationAssertion( "HH"^^xsd:string) AnnotationAssertion( "Haemochromatoses"^^xsd:string) AnnotationAssertion( "Haemochromatosis"^^xsd:string) AnnotationAssertion( "Hemochromatose"^^xsd:string) AnnotationAssertion( "Hemochromatoses"^^xsd:string) AnnotationAssertion( "Iron Storage Disorder"^^xsd:string) AnnotationAssertion( "Iron Storage Disorders"^^xsd:string) AnnotationAssertion( "Pigmentary Cirrhoses"^^xsd:string) AnnotationAssertion( "Pigmentary Cirrhosis"^^xsd:string) AnnotationAssertion( "Primary Hemochromatosis"^^xsd:string) AnnotationAssertion( "Troisier Hanot Chauffard Syndrome"^^xsd:string) AnnotationAssertion( "bronzed cirrhoses"^^xsd:string) AnnotationAssertion( "bronzed cirrhosis"^^xsd:string) AnnotationAssertion( "von Recklenhausen Applebaum disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HFE INTRONIC POLYMORPHISM"^^xsd:string) AnnotationAssertion( "HFE POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:2352"^^xsd:string) AnnotationAssertion(rdfs:label "hemochromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myelophthisic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myelophthisic_anemia"^^xsd:string) "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007388"^^xsd:string) AnnotationAssertion( "ICD10CM:D61.82"^^xsd:string) AnnotationAssertion( "MESH:D000750"^^xsd:string) AnnotationAssertion( "NCI:C36218"^^xsd:string) AnnotationAssertion( "leukoerythroblastic anemia"^^xsd:string) AnnotationAssertion( "leukoerythroblastic anemias"^^xsd:string) AnnotationAssertion( "leukoerythroblastosis"^^xsd:string) AnnotationAssertion( "myelophthisic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "myelophthisis"^^xsd:string) AnnotationAssertion( "DOID:2354"^^xsd:string) AnnotationAssertion(rdfs:label "myelophthisic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anemia"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/"^^xsd:string) "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004272"^^xsd:string) AnnotationAssertion( "EFO:0009529"^^xsd:string) AnnotationAssertion( "ICD10CM:D64.9"^^xsd:string) AnnotationAssertion( "ICD9CM:285.9"^^xsd:string) AnnotationAssertion( "MESH:D000740"^^xsd:string) AnnotationAssertion( "NCI:C2869"^^xsd:string) AnnotationAssertion( "anaemia"^^xsd:string) AnnotationAssertion( "anemias"^^xsd:string) AnnotationAssertion( "anemia due to enzyme disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HINSDALE"^^xsd:string) AnnotationAssertion( "DOID:2355"^^xsd:string) AnnotationAssertion(rdfs:label "anemia"^^xsd:string) SubClassOf( ) # Class: (macrocytic anemia) AnnotationAssertion(Annotation( "MESH:D000748"^^xsd:string) Annotation( "https://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia"^^xsd:string) "An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000748"^^xsd:string) AnnotationAssertion( "MONDO:0002281"^^xsd:string) AnnotationAssertion( "NCI:C34381"^^xsd:string) AnnotationAssertion( "macrocytic anaemia"^^xsd:string) AnnotationAssertion( "macrocytic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2361"^^xsd:string) AnnotationAssertion(rdfs:label "macrocytic anemia"^^xsd:string) SubClassOf( ) # Class: (post-thrombotic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Post-thrombotic_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21239797"^^xsd:string) "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011186"^^xsd:string) AnnotationAssertion( "EFO:0007452"^^xsd:string) AnnotationAssertion( "EFO:1001405"^^xsd:string) AnnotationAssertion( "ICD10CM:I87.0"^^xsd:string) AnnotationAssertion( "ICD9CM:459.1"^^xsd:string) AnnotationAssertion( "MESH:D054070"^^xsd:string) AnnotationAssertion( "Postphlebetic syndrome with ulcer"^^xsd:string) AnnotationAssertion( "Postphlebetic syndrome with ulcer and inflammation"^^xsd:string) AnnotationAssertion( "Postphlebitic Disease"^^xsd:string) AnnotationAssertion( "Postphlebitic Syndrome"^^xsd:string) AnnotationAssertion( "Postphlebitic Ulcer"^^xsd:string) AnnotationAssertion( "postphlebetic syndrome with inflammation"^^xsd:string) AnnotationAssertion( "postphlebitic diseases"^^xsd:string) AnnotationAssertion( "postphlebitic syndromes"^^xsd:string) AnnotationAssertion( "postphlebitic ulcers"^^xsd:string) AnnotationAssertion( "postthrombotic syndrome"^^xsd:string) AnnotationAssertion( "venous stasis syndrome"^^xsd:string) AnnotationAssertion( "venous stress disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2364"^^xsd:string) AnnotationAssertion(rdfs:label "post-thrombotic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (West Nile encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm"^^xsd:string) "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007545"^^xsd:string) AnnotationAssertion( "GARD:9959"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.31"^^xsd:string) AnnotationAssertion( "ICD9CM:066.41"^^xsd:string) AnnotationAssertion( "West Nile fever encephalitis"^^xsd:string) AnnotationAssertion( "West Nile fever with encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2365"^^xsd:string) AnnotationAssertion(rdfs:label "West Nile encephalitis"^^xsd:string) SubClassOf( ) # Class: (West Nile fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm"^^xsd:string) Annotation( "http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610379"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.3"^^xsd:string) AnnotationAssertion( "ICD9CM:066.4"^^xsd:string) AnnotationAssertion( "MESH:D014901"^^xsd:string) AnnotationAssertion( "WEST NILE VIRUS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "West Nile Fever Myelitis"^^xsd:string) AnnotationAssertion( "West Nile Fever meningoencephalitis"^^xsd:string) AnnotationAssertion( "West Nile fever meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "WNV, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:2366"^^xsd:string) AnnotationAssertion(rdfs:label "West Nile fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroaxonal dystrophy) AnnotationAssertion(Annotation( "MESH:D019150"^^xsd:string) "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"^^xsd:string) AnnotationAssertion( "OMIA:000715"^^xsd:string) AnnotationAssertion( "PLA2G6-associated neurodegeneration"^^xsd:string) AnnotationAssertion( "PLA2G6-related NBIA"^^xsd:string) AnnotationAssertion( "MESH:D019150"^^xsd:string) AnnotationAssertion( "NCI:C161542"^^xsd:string) AnnotationAssertion( "adult neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "juvenile neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "late infantile neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "neuroaxonal dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2367"^^xsd:string) AnnotationAssertion(rdfs:label "neuroaxonal dystrophy"^^xsd:string) SubClassOf( ) # Class: (gangliosidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gangliosidosis"^^xsd:string) "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12510"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.10"^^xsd:string) AnnotationAssertion( "MESH:D005733"^^xsd:string) AnnotationAssertion( "ORDO:309144"^^xsd:string) AnnotationAssertion( "ganglioside storage disease"^^xsd:string) AnnotationAssertion( "ganglioside storage diseases"^^xsd:string) AnnotationAssertion( "ganglioside storage disorder"^^xsd:string) AnnotationAssertion( "ganglioside storage disorders"^^xsd:string) AnnotationAssertion( "gangliosidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2368"^^xsd:string) AnnotationAssertion(rdfs:label "gangliosidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary elliptocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_elliptocytosis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/RBCmembrane/"^^xsd:string) "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (DO)"^^xsd:string) AnnotationAssertion( "ELLIPTOCYTOSIS"^^xsd:string) AnnotationAssertion( "GARD:6621"^^xsd:string) AnnotationAssertion( "ICD10CM:D58.1"^^xsd:string) AnnotationAssertion( "ICD9CM:282.1"^^xsd:string) AnnotationAssertion( "MESH:D004612"^^xsd:string) AnnotationAssertion( "NCI:C35882"^^xsd:string) AnnotationAssertion( "ORDO:288"^^xsd:string) AnnotationAssertion( "Hereditary Elliptocytoses"^^xsd:string) AnnotationAssertion( "Hereditary Ovalocytoses"^^xsd:string) AnnotationAssertion( "Hereditary Ovalocytosis"^^xsd:string) AnnotationAssertion( "congenital elliptocytosis"^^xsd:string) AnnotationAssertion( "hereditary stomatocytic elliptocytosis"^^xsd:string) AnnotationAssertion( "ovalocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2373"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary elliptocytosis"^^xsd:string) SubClassOf( ) # Class: (multiple sclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_sclerosis"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/multiple-sclerosis"^^xsd:string) "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003885"^^xsd:string) AnnotationAssertion( "GARD:10255"^^xsd:string) AnnotationAssertion( "ICD10CM:G35"^^xsd:string) AnnotationAssertion( "ICD9CM:340"^^xsd:string) AnnotationAssertion( "MESH:D009103"^^xsd:string) AnnotationAssertion( "MIM:126200"^^xsd:string) AnnotationAssertion( "MIM:612594"^^xsd:string) AnnotationAssertion( "MIM:612595"^^xsd:string) AnnotationAssertion( "MIM:612596"^^xsd:string) AnnotationAssertion( "MIM:614810"^^xsd:string) AnnotationAssertion( "MIM:PS126200"^^xsd:string) AnnotationAssertion( "MONDO:0005301"^^xsd:string) AnnotationAssertion( "NCI:C3243"^^xsd:string) AnnotationAssertion( "MS"^^xsd:string) AnnotationAssertion( "MS (Multiple Sclerosis)"^^xsd:string) AnnotationAssertion( "acute fulminating multiple sclerosis"^^xsd:string) AnnotationAssertion( "disseminated sclerosis"^^xsd:string) AnnotationAssertion( "generalized multiple sclerosis"^^xsd:string) AnnotationAssertion( "insular sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MS1"^^xsd:string) AnnotationAssertion( "MS2"^^xsd:string) AnnotationAssertion( "MS3"^^xsd:string) AnnotationAssertion( "MS4"^^xsd:string) AnnotationAssertion( "MS5"^^xsd:string) AnnotationAssertion( "multiple sclerosis modifier of disease progression"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "multiple sclerosis, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "DOID:2377"^^xsd:string) AnnotationAssertion(rdfs:label "multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (relapsing-remitting multiple sclerosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/multiple-sclerosis/types.html"^^xsd:string) "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003929"^^xsd:string) AnnotationAssertion( "MESH:D020529"^^xsd:string) AnnotationAssertion( "NCI:C165675"^^xsd:string) AnnotationAssertion( "Acute Relapsing Multiple Sclerosis"^^xsd:string) AnnotationAssertion( "RRMS"^^xsd:string) AnnotationAssertion( "Relapsing-remitting MS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2378"^^xsd:string) AnnotationAssertion(rdfs:label "relapsing-remitting multiple sclerosis"^^xsd:string) SubClassOf( ) # Class: (pupil disease) AnnotationAssertion(Annotation( "MESH:D011681"^^xsd:string) "Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes."^^xsd:string) AnnotationAssertion( "MESH:D011681"^^xsd:string) AnnotationAssertion( "Afferent Pupillary Defect"^^xsd:string) AnnotationAssertion( "Deformed Pupil"^^xsd:string) AnnotationAssertion( "Efferent Pupillary Defect"^^xsd:string) AnnotationAssertion( "Fixed Pupil"^^xsd:string) AnnotationAssertion( "Fixed Pupils"^^xsd:string) AnnotationAssertion( "Keyhole Pupil"^^xsd:string) AnnotationAssertion( "Keyhole Pupils"^^xsd:string) AnnotationAssertion( "Marcus Gunn Pupil"^^xsd:string) AnnotationAssertion( "Non Syphilitic Argyll Robertson Pupil"^^xsd:string) AnnotationAssertion( "Occluded Pupil"^^xsd:string) AnnotationAssertion( "Occluded Pupils"^^xsd:string) AnnotationAssertion( "Pupil Disorder"^^xsd:string) AnnotationAssertion( "Pupil Disorders"^^xsd:string) AnnotationAssertion( "Pupil Malformation"^^xsd:string) AnnotationAssertion( "Pupil Malformations"^^xsd:string) AnnotationAssertion( "Pupil Reaction Absent"^^xsd:string) AnnotationAssertion( "Pupillary Anomalies"^^xsd:string) AnnotationAssertion( "Pupillary Anomaly"^^xsd:string) AnnotationAssertion( "Pupillary Disorder"^^xsd:string) AnnotationAssertion( "Pupillary Disorders"^^xsd:string) AnnotationAssertion( "Pupillary Occlusion"^^xsd:string) AnnotationAssertion( "Pupillary Occlusions"^^xsd:string) AnnotationAssertion( "Pupillary Paralyses"^^xsd:string) AnnotationAssertion( "Pupillary Paralysis"^^xsd:string) AnnotationAssertion( "Pupillary Sector Paralyses"^^xsd:string) AnnotationAssertion( "Pupillary Sector Paralysis"^^xsd:string) AnnotationAssertion( "Pupillary Sphincter Rupture"^^xsd:string) AnnotationAssertion( "Pupillary Sphincter Ruptures"^^xsd:string) AnnotationAssertion( "Reaction Absents, Pupil"^^xsd:string) AnnotationAssertion( "Sector Pupil Palsy"^^xsd:string) AnnotationAssertion( "Wernicke hemianopic pupil"^^xsd:string) AnnotationAssertion( "Wernicke's hemianopic pupil"^^xsd:string) AnnotationAssertion( "Wernickes hemianopic pupil"^^xsd:string) AnnotationAssertion( "afferent pupillary defects"^^xsd:string) AnnotationAssertion( "deformed pupils"^^xsd:string) AnnotationAssertion( "efferent pupillary defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:238"^^xsd:string) AnnotationAssertion(rdfs:label "pupil disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kernicterus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Kernicterus"^^xsd:string) Annotation( "https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm"^^xsd:string) "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001002"^^xsd:string) AnnotationAssertion( "GARD:6830"^^xsd:string) AnnotationAssertion( "ICD10CM:P57"^^xsd:string) AnnotationAssertion( "MESH:D007647"^^xsd:string) AnnotationAssertion( "NCI:C84799"^^xsd:string) AnnotationAssertion( "Bilirubin Encephalopathies"^^xsd:string) AnnotationAssertion( "Bilirubin Encephalopathy"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemic Encephalopathies"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemic Encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2382"^^xsd:string) AnnotationAssertion(rdfs:label "kernicterus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neonatal jaundice) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neonatal_jaundice"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm"^^xsd:string) "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000739"^^xsd:string) AnnotationAssertion( "ICD10CM:P59.9"^^xsd:string) AnnotationAssertion( "MESH:D007567"^^xsd:string) AnnotationAssertion( "NCI:C99246"^^xsd:string) AnnotationAssertion( "icterus gravis neonatorum"^^xsd:string) AnnotationAssertion( "neonatal icterus"^^xsd:string) AnnotationAssertion( "physiological neonatal jaundice"^^xsd:string) AnnotationAssertion( "severe jaundice in neonate"^^xsd:string) AnnotationAssertion( "severe jaundice in newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2383"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal jaundice"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wernicke encephalopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy"^^xsd:string) "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001241"^^xsd:string) AnnotationAssertion( "ICD10CM:E51.2"^^xsd:string) AnnotationAssertion( "MESH:D014899"^^xsd:string) AnnotationAssertion( "Cerebral Beriberi"^^xsd:string) AnnotationAssertion( "Encephalopathy, Wernickes"^^xsd:string) AnnotationAssertion( "Gayet Wernicke Encephalopathy"^^xsd:string) AnnotationAssertion( "Wernicke Disease"^^xsd:string) AnnotationAssertion( "Wernicke Encephalopathies"^^xsd:string) AnnotationAssertion( "Wernicke Superior Hemorrhagic Polioencephalitis"^^xsd:string) AnnotationAssertion( "Wernicke Syndrome"^^xsd:string) AnnotationAssertion( "Wernicke's Disease"^^xsd:string) AnnotationAssertion( "Wernicke's Encephalopathy"^^xsd:string) AnnotationAssertion( "Wernicke's Superior Hemorrhagic Polioencephalitis"^^xsd:string) AnnotationAssertion( "Wernicke's Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2384"^^xsd:string) AnnotationAssertion(rdfs:label "Wernicke encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal artery disease) AnnotationAssertion( "Pathological processes in any of the renal blood vessels"^^xsd:string) AnnotationAssertion( "ICD9CM:593.81"^^xsd:string) AnnotationAssertion( "NCI:C35338"^^xsd:string) AnnotationAssertion( "RDO:9000083"^^xsd:string) AnnotationAssertion( "renal vascular disease"^^xsd:string) AnnotationAssertion( "renal vascular diseases"^^xsd:string) AnnotationAssertion( "renal vascular disorder"^^xsd:string) AnnotationAssertion( "vascular disorder of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "renal vascular sclerosis"^^xsd:string) AnnotationAssertion( "DOID:2388"^^xsd:string) AnnotationAssertion(rdfs:label "renal artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glandular cystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39860"^^xsd:string) AnnotationAssertion( "RDO:9002680"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cystitis glandularis"^^xsd:string) AnnotationAssertion( "DOID:2392"^^xsd:string) AnnotationAssertion(rdfs:label "glandular cystitis"^^xsd:string) SubClassOf( ) # Class: (ovarian cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=445074"^^xsd:string) "A female reproductive organ cancer that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:607893"^^xsd:string) AnnotationAssertion( "GARD:7295"^^xsd:string) AnnotationAssertion( "ICD10CM:C56"^^xsd:string) AnnotationAssertion( "ICD9CM:183.0"^^xsd:string) AnnotationAssertion( "MIM:167000"^^xsd:string) AnnotationAssertion( "NCI:C4984"^^xsd:string) AnnotationAssertion( "NCI:C7431"^^xsd:string) AnnotationAssertion( "ORDO:213500"^^xsd:string) AnnotationAssertion( "ORDO:213517"^^xsd:string) AnnotationAssertion( "cancer of ovary"^^xsd:string) AnnotationAssertion( "malignant ovarian tumor"^^xsd:string) AnnotationAssertion( "malignant tumour of ovary"^^xsd:string) AnnotationAssertion( "ovarian cancers"^^xsd:string) AnnotationAssertion( "ovary cancer"^^xsd:string) AnnotationAssertion( "ovary cancers"^^xsd:string) AnnotationAssertion( "primary ovarian cancer"^^xsd:string) AnnotationAssertion( "FAMILIAL OVARIAN CANCER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OVCAS1"^^xsd:string) AnnotationAssertion( "ovarian cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:2394"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (iris disease) AnnotationAssertion( "Diseases, dysfunctions, or disorders of or located in the iris."^^xsd:string) AnnotationAssertion( "MESH:D007499"^^xsd:string) AnnotationAssertion( "NCI:C34737"^^xsd:string) AnnotationAssertion( "Iris Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:240"^^xsd:string) AnnotationAssertion(rdfs:label "iris disease"^^xsd:string) SubClassOf( ) # Class: (clitoris cancer) AnnotationAssertion(Annotation( "https://scialert.net/fulltext/?doi=ijcr.2008.110.126"^^xsd:string) "A vulva cancer that is located_in the clitoris. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C51.2"^^xsd:string) AnnotationAssertion( "ICD9CM:184.3"^^xsd:string) AnnotationAssertion( "NCI:C3557"^^xsd:string) AnnotationAssertion( "NCI:C9362"^^xsd:string) AnnotationAssertion( "Clitoral Ca"^^xsd:string) AnnotationAssertion( "carcinoma of clitoris"^^xsd:string) AnnotationAssertion( "clitoral cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of clitoris"^^xsd:string) AnnotationAssertion( "malignant tumor of clitoris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2401"^^xsd:string) AnnotationAssertion(rdfs:label "clitoris cancer"^^xsd:string) SubClassOf( ) # Class: (rhinosporidiosis) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub"^^xsd:string) "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007471"^^xsd:string) AnnotationAssertion( "ICD10CM:B48.1"^^xsd:string) AnnotationAssertion( "ICD9CM:117.0"^^xsd:string) AnnotationAssertion( "MESH:D012227"^^xsd:string) AnnotationAssertion( "infection by Rhinosporidium seeberi"^^xsd:string) AnnotationAssertion( "rhinosporidioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2409"^^xsd:string) AnnotationAssertion(rdfs:label "rhinosporidiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin granular cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5617"^^xsd:string) AnnotationAssertion( "granular cell neoplasm of the skin"^^xsd:string) AnnotationAssertion( "granular cell tumor of skin"^^xsd:string) AnnotationAssertion( "granular cell tumour of skin"^^xsd:string) AnnotationAssertion( "skin granular cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2410"^^xsd:string) AnnotationAssertion(rdfs:label "skin granular cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granular cell tumor) AnnotationAssertion(Annotation( "MESH:D016586"^^xsd:string) "Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma."^^xsd:string) AnnotationAssertion( "EFO:1000284"^^xsd:string) AnnotationAssertion( "GARD:9618"^^xsd:string) AnnotationAssertion( "ICDO:9580/0"^^xsd:string) AnnotationAssertion( "MESH:D016586"^^xsd:string) AnnotationAssertion( "NCI:C158784"^^xsd:string) AnnotationAssertion( "NCI:C3474"^^xsd:string) AnnotationAssertion( "granular cell myoblastoma"^^xsd:string) AnnotationAssertion( "granular cell myoblastomas"^^xsd:string) AnnotationAssertion( "granular cell tumors"^^xsd:string) AnnotationAssertion( "neoplasm of granular cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2411"^^xsd:string) AnnotationAssertion(rdfs:label "granular cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous ganglioneuroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4481"^^xsd:string) AnnotationAssertion( "ganglioneuroma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2425"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous ganglioneuroma"^^xsd:string) SubClassOf( ) # Class: (gangliocytoma) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18"^^xsd:string) Annotation( "https://radiopaedia.org/articles/gangliocytoma"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma"^^xsd:string) "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10638"^^xsd:string) AnnotationAssertion( "ICDO:9492/0"^^xsd:string) AnnotationAssertion( "NCI:C6934"^^xsd:string) AnnotationAssertion( "gangliocytoma of central nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2426"^^xsd:string) AnnotationAssertion(rdfs:label "gangliocytoma"^^xsd:string) SubClassOf( ) # Class: (skin glomus tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4491"^^xsd:string) AnnotationAssertion( "RDO:9003005"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4491"^^xsd:string) "Glomus skin neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254795008"^^xsd:string) "Glomus tumor of skin"^^xsd:string) AnnotationAssertion( "Glomus tumour of skin"^^xsd:string) AnnotationAssertion( "skin glomus tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2430"^^xsd:string) AnnotationAssertion(rdfs:label "skin glomus tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomus tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glomus_tumor"^^xsd:string) "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8711/0"^^xsd:string) AnnotationAssertion( "MESH:D005918"^^xsd:string) AnnotationAssertion( "NCI:C3060"^^xsd:string) AnnotationAssertion( "ORDO:391651"^^xsd:string) AnnotationAssertion( "Glomangioma"^^xsd:string) AnnotationAssertion( "Glomangiomas"^^xsd:string) AnnotationAssertion( "Glomus Tumors"^^xsd:string) AnnotationAssertion( "glomus neoplasm"^^xsd:string) AnnotationAssertion( "glomus tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2431"^^xsd:string) AnnotationAssertion(rdfs:label "glomus tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermal appendage tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4463"^^xsd:string) AnnotationAssertion( "RDO:9004813"^^xsd:string) AnnotationAssertion( "neoplasm of skin with adnexal differentiation"^^xsd:string) AnnotationAssertion( "neoplasm of the skin appendage"^^xsd:string) AnnotationAssertion( "skin appendage tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2433"^^xsd:string) AnnotationAssertion(rdfs:label "epidermal appendage tumor"^^xsd:string) SubClassOf( ) # Class: (skin glomangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6750"^^xsd:string) AnnotationAssertion( "cutaneous glomangioma"^^xsd:string) AnnotationAssertion( "glomangioma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2435"^^xsd:string) AnnotationAssertion(rdfs:label "skin glomangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomangioma) AnnotationAssertion(Annotation( "https://medical-dictionary.thefreedictionary.com/glomangioma"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/21163162/"^^xsd:string) "A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9003557"^^xsd:string) AnnotationAssertion( "MIM:138000"^^xsd:string) AnnotationAssertion( "ICDO:8712/0"^^xsd:string) AnnotationAssertion( "MESH:C536827"^^xsd:string) AnnotationAssertion( "NCI:C4222"^^xsd:string) AnnotationAssertion( "ORDO:83454"^^xsd:string) AnnotationAssertion( "GVM"^^xsd:string) AnnotationAssertion( "Glomangiomas, Multiple"^^xsd:string) AnnotationAssertion( "Glomus Tumors, Multiple"^^xsd:string) AnnotationAssertion( "Glomus Vagale Tumors"^^xsd:string) AnnotationAssertion( "Glomuvenous Malformation"^^xsd:string) AnnotationAssertion( "Glomuvenous malformations"^^xsd:string) AnnotationAssertion( "VMGLOM"^^xsd:string) AnnotationAssertion( "Venous Malformations With Glomus Cells"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2436"^^xsd:string) AnnotationAssertion(rdfs:label "glomangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dermis tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4475"^^xsd:string) AnnotationAssertion( "dermis tumour"^^xsd:string) AnnotationAssertion( "neoplasm of dermis"^^xsd:string) AnnotationAssertion( "tumor of dermis"^^xsd:string) AnnotationAssertion( "tumour of dermis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2438"^^xsd:string) AnnotationAssertion(rdfs:label "dermis tumor"^^xsd:string) SubClassOf( ) # Class: (frontal sinus squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22169549"^^xsd:string) "A squamous cell carcinoma that is located_in the frontal sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6067"^^xsd:string) AnnotationAssertion( "RDO:9002360"^^xsd:string) AnnotationAssertion( "Epidermoid carcinoma of the Frontal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2441"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hyperpituitarism) AnnotationAssertion(Annotation( "MESH:D006964"^^xsd:string) "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA."^^xsd:string) AnnotationAssertion( "EFO:1000973"^^xsd:string) AnnotationAssertion( "MESH:D006964"^^xsd:string) AnnotationAssertion( "Inappropriate FSH Secretion Syndrome"^^xsd:string) AnnotationAssertion( "Inappropriate Follicle Stimulating Hormone Secretion"^^xsd:string) AnnotationAssertion( "Inappropriate LH Secretion Syndrome"^^xsd:string) AnnotationAssertion( "Inappropriate Luteinizing Hormone Secretion"^^xsd:string) AnnotationAssertion( "Inappropriate TSH Secretion Syndrome"^^xsd:string) AnnotationAssertion( "Inappropriate Thyroid Stimulating Hormone Secretion"^^xsd:string) AnnotationAssertion( "Pituitary FSH Hypersecretion"^^xsd:string) AnnotationAssertion( "Pituitary LH Hypersecretion"^^xsd:string) AnnotationAssertion( "Pituitary TSH Hypersecretion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2444"^^xsd:string) AnnotationAssertion(rdfs:label "hyperpituitarism"^^xsd:string) SubClassOf( ) # Class: (acromegaly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acromegaly"^^xsd:string) Annotation( "http://www.acromegaly.org/"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/acromegaly/DS00478"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm"^^xsd:string) "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001485"^^xsd:string) AnnotationAssertion( "GARD:5725"^^xsd:string) AnnotationAssertion( "MESH:D000172"^^xsd:string) AnnotationAssertion( "NCI:C84533"^^xsd:string) AnnotationAssertion( "Inappropriate GH Secretion Syndrome (Acromegaly)"^^xsd:string) AnnotationAssertion( "Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)"^^xsd:string) AnnotationAssertion( "somatotropin hypersecretion syndrome (acromegaly)"^^xsd:string) AnnotationAssertion( "somatotropin hypersecretion syndromes (acromegaly)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2449"^^xsd:string) AnnotationAssertion(rdfs:label "acromegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central retinal vein occlusion) AnnotationAssertion( "An obstruction occurring within the central retinal vein, which is the sole venous drainage source of the retina."^^xsd:string) AnnotationAssertion( "ICD10CM:H34.81"^^xsd:string) AnnotationAssertion( "ICD9CM:362.35"^^xsd:string) AnnotationAssertion( "NCI:C118859"^^xsd:string) AnnotationAssertion( "RDO:9000121"^^xsd:string) AnnotationAssertion( "CRVO"^^xsd:string) AnnotationAssertion( "CRVT"^^xsd:string) AnnotationAssertion( "Central retinal vein thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2450"^^xsd:string) AnnotationAssertion(rdfs:label "central retinal vein occlusion"^^xsd:string) SubClassOf( ) # Class: (protein S deficiency) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/protein-s-deficiency/"^^xsd:string) "A thrombophilia that is characterized by increased risk of developing abnormal blood clots. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4524"^^xsd:string) AnnotationAssertion( "MESH:D018455"^^xsd:string) AnnotationAssertion( "NCI:C99026"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia due to protein S deficiency"^^xsd:string) AnnotationAssertion( "protein S deficiencies"^^xsd:string) AnnotationAssertion( "protein S deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2451"^^xsd:string) AnnotationAssertion(rdfs:label "protein S deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thrombophilia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thrombophilia"^^xsd:string) Annotation( "https://www.nhs.uk/conditions/thrombophilia/"^^xsd:string) "A blood coagulation disease that is characterized by an increased tendency to form clots. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009315"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.59"^^xsd:string) AnnotationAssertion( "MESH:D019851"^^xsd:string) AnnotationAssertion( "MIM:PS188050"^^xsd:string) AnnotationAssertion( "NCI:C84479"^^xsd:string) AnnotationAssertion( "hypercoagulabilities"^^xsd:string) AnnotationAssertion( "hypercoagulability"^^xsd:string) AnnotationAssertion( "hypercoagulability state"^^xsd:string) AnnotationAssertion( "thrombophilias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2452"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophilia"^^xsd:string) SubClassOf( ) # Class: (angular blepharoconjunctivitis) AnnotationAssertion(Annotation( "http://dro.hs.columbia.edu/angbleph.htm"^^xsd:string) "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.52"^^xsd:string) AnnotationAssertion( "ICD9CM:372.21"^^xsd:string) AnnotationAssertion( "RDO:9003501"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2455"^^xsd:string) AnnotationAssertion(rdfs:label "angular blepharoconjunctivitis"^^xsd:string) SubClassOf( ) # Class: (blepharoconjunctivitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conjunctivitis"^^xsd:string) "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.5"^^xsd:string) AnnotationAssertion( "ICD9CM:372.2"^^xsd:string) AnnotationAssertion( "NCI:C34430"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2456"^^xsd:string) AnnotationAssertion(rdfs:label "blepharoconjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (giant papillary conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:8445"^^xsd:string) AnnotationAssertion( "NCI:C34507"^^xsd:string) AnnotationAssertion( "giant papillary conjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2457"^^xsd:string) AnnotationAssertion(rdfs:label "giant papillary conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (papillary conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35616"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2458"^^xsd:string) AnnotationAssertion(rdfs:label "papillary conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (anterior dislocation of lens) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H27.12"^^xsd:string) AnnotationAssertion( "ICD9CM:379.33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2460"^^xsd:string) AnnotationAssertion(rdfs:label "anterior dislocation of lens"^^xsd:string) SubClassOf( ) # Class: (retinal vascular disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35170"^^xsd:string) AnnotationAssertion( "RDO:9002921"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:1114-7471"^^xsd:string) "retina circulation disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2462"^^xsd:string) AnnotationAssertion(rdfs:label "retinal vascular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (psychotic disorder) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html"^^xsd:string) "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. (DO)"^^xsd:string) AnnotationAssertion( "mental or behavioural disorder"^^xsd:string) AnnotationAssertion( "EFO:0005407"^^xsd:string) AnnotationAssertion( "EFO:0005940"^^xsd:string) AnnotationAssertion( "ICD9CM:298.8"^^xsd:string) AnnotationAssertion( "MESH:D011618"^^xsd:string) AnnotationAssertion( "NCI:C78576"^^xsd:string) AnnotationAssertion( "brief reactive psychoses"^^xsd:string) AnnotationAssertion( "brief reactive psychosis"^^xsd:string) AnnotationAssertion( "psychoses"^^xsd:string) AnnotationAssertion( "psychosis"^^xsd:string) AnnotationAssertion( "psychotic disorders"^^xsd:string) AnnotationAssertion( "juvenile onset psychosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "psychotic symptoms"^^xsd:string) AnnotationAssertion( "DOID:2468"^^xsd:string) AnnotationAssertion(rdfs:label "psychotic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (opportunistic mycosis) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006"^^xsd:string) "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:118"^^xsd:string) AnnotationAssertion( "opportunistic mycoses"^^xsd:string) AnnotationAssertion( "opportunistic systemic mycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2473"^^xsd:string) AnnotationAssertion(rdfs:label "opportunistic mycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vernal conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7854"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.44"^^xsd:string) AnnotationAssertion( "ICD9CM:372.13"^^xsd:string) AnnotationAssertion( "NCI:C34508"^^xsd:string) AnnotationAssertion( "RDO:9002739"^^xsd:string) AnnotationAssertion( "vernal conjunctivitides"^^xsd:string) AnnotationAssertion( "vernal keratoconjunctivitides"^^xsd:string) AnnotationAssertion( "vernal keratoconjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2474"^^xsd:string) AnnotationAssertion(rdfs:label "vernal conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic conjunctivitis) AnnotationAssertion( "Long term inflammation of the conjunctiva, caused by a variety of agents."^^xsd:string) AnnotationAssertion( "ICD10CM:H10.4"^^xsd:string) AnnotationAssertion( "ICD9CM:372.1"^^xsd:string) AnnotationAssertion( "NCI:C35197"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2475"^^xsd:string) AnnotationAssertion(rdfs:label "chronic conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (hereditary spastic paraplegia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_spastic_paraplegia"^^xsd:string) "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000529"^^xsd:string) AnnotationAssertion( "GARD:6637"^^xsd:string) AnnotationAssertion( "ICD9CM:334.1"^^xsd:string) AnnotationAssertion( "MESH:D015419"^^xsd:string) AnnotationAssertion( "MIM:PS303350"^^xsd:string) AnnotationAssertion( "MONDO:0019064"^^xsd:string) AnnotationAssertion( "NCI:C140267"^^xsd:string) AnnotationAssertion( "CMT with Pyramidal Features"^^xsd:string) AnnotationAssertion( "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "French settlement disease"^^xsd:string) AnnotationAssertion( "HMSN 5"^^xsd:string) AnnotationAssertion( "HMSN Type V"^^xsd:string) AnnotationAssertion( "HMSN V"^^xsd:string) AnnotationAssertion( "HMSN V (Hereditary Motor and Sensory Neuropathy Type V)"^^xsd:string) AnnotationAssertion( "Hereditary Motor And Sensory Neuropathy V"^^xsd:string) AnnotationAssertion( "Hereditary Motor Sensory Neuropathy with Pyramidal Signs"^^xsd:string) AnnotationAssertion( "Hereditary Motor and Sensory Neuropathy 5"^^xsd:string) AnnotationAssertion( "Hereditary X Linked Recessive Spastic Paraplegia"^^xsd:string) AnnotationAssertion( "Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia"^^xsd:string) AnnotationAssertion( "PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA"^^xsd:string) AnnotationAssertion( "Strumpell-Lorrain disease"^^xsd:string) AnnotationAssertion( "familial spastic paraplegia"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type V"^^xsd:string) AnnotationAssertion( "hereditary spastic paraparesis"^^xsd:string) AnnotationAssertion( "hereditary spastic paraplegias"^^xsd:string) AnnotationAssertion( "peroneal muscular atrophy with pyramidal features, autosomal dominant"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE COMPLEX SPASTIC PARAPLEGIA"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Hereditary Spastic Paraplegia"^^xsd:string) AnnotationAssertion( "COMPLEX HEREDITARY SPASTIC PARAPLEGIA"^^xsd:string) AnnotationAssertion( "Dominant Spastic Paraplegia"^^xsd:string) AnnotationAssertion( "X-linked hereditary spastic paraplegia"^^xsd:string) AnnotationAssertion( "autosomal dominant hereditary spastic paraplegia"^^xsd:string) AnnotationAssertion( "recessive spastic paraplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2476"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary spastic paraplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (motor peripheral neuropathy) AnnotationAssertion(Annotation( "https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy"^^xsd:string) "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D015417"^^xsd:string) AnnotationAssertion( "HMSN"^^xsd:string) AnnotationAssertion( "HMSN Type VII"^^xsd:string) AnnotationAssertion( "HSMN"^^xsd:string) AnnotationAssertion( "HSMN - hereditary sensory and motor neuropathy"^^xsd:string) AnnotationAssertion( "Herditary Sensory and Motor Neuropathy"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathies"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, type VII"^^xsd:string) AnnotationAssertion( "hereditary sensory and motor neuropathy"^^xsd:string) AnnotationAssertion( "neuropathic muscular atrophy"^^xsd:string) AnnotationAssertion( "sensory neuropathy with spastic paraplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2477"^^xsd:string) AnnotationAssertion(rdfs:label "motor peripheral neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system origin vertigo) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26643594"^^xsd:string) "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H81.4"^^xsd:string) AnnotationAssertion( "ICD9CM:386.2"^^xsd:string) AnnotationAssertion( "CNS origin vertigo"^^xsd:string) AnnotationAssertion( "brain stem vertigo"^^xsd:string) AnnotationAssertion( "brainstem vertigo"^^xsd:string) AnnotationAssertion( "central origin vertigo"^^xsd:string) AnnotationAssertion( "central vestibular vertigo"^^xsd:string) AnnotationAssertion( "vertigo of central origin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2479"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system origin vertigo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26026331"^^xsd:string) "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014134"^^xsd:string) AnnotationAssertion( "NCI:C3419"^^xsd:string) AnnotationAssertion( "NCI:C6049"^^xsd:string) AnnotationAssertion( "leiomyoma of the trachea"^^xsd:string) AnnotationAssertion( "neoplasm of trachea"^^xsd:string) AnnotationAssertion( "trachea neoplasm"^^xsd:string) AnnotationAssertion( "tracheal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:248"^^xsd:string) AnnotationAssertion(rdfs:label "trachea leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (phosphorus metabolism disease) AnnotationAssertion(Annotation( "MESH:D010760"^^xsd:string) "Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization."^^xsd:string) AnnotationAssertion( "ICD9CM:275.3"^^xsd:string) AnnotationAssertion( "MESH:D010760"^^xsd:string) AnnotationAssertion( "NCI:C97095"^^xsd:string) AnnotationAssertion( "RDO:0006341"^^xsd:string) AnnotationAssertion( "Phosphorus Metabolism Disorder"^^xsd:string) AnnotationAssertion( "Phosphorus Metabolism Disorders"^^xsd:string) AnnotationAssertion( "Phosphorus disorder"^^xsd:string) AnnotationAssertion( "disorder of phosphorus metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2485"^^xsd:string) AnnotationAssertion(rdfs:label "phosphorus metabolism disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nervous system abnormality) AnnotationAssertion( "ICD9CM:742"^^xsd:string) AnnotationAssertion( "congenital neurologic anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2490"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nervous system abnormality"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sensory peripheral neuropathy) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061"^^xsd:string) "A neuropathy that involves damage to nerves of the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:356.2"^^xsd:string) AnnotationAssertion( "MONDO:0002321"^^xsd:string) AnnotationAssertion( "NCI:C3501"^^xsd:string) AnnotationAssertion( "sensory neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2491"^^xsd:string) AnnotationAssertion(rdfs:label "sensory peripheral neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric antral vascular ectasia) AnnotationAssertion(Annotation( "MESH:D020252"^^xsd:string) "A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE."^^xsd:string) AnnotationAssertion( "EFO:1000945"^^xsd:string) AnnotationAssertion( "MESH:D020252"^^xsd:string) AnnotationAssertion( "NCI:C84724"^^xsd:string) AnnotationAssertion( "Antral Vascular Ectasia"^^xsd:string) AnnotationAssertion( "Antral Vascular Ectasias"^^xsd:string) AnnotationAssertion( "Watermelon Stomach"^^xsd:string) AnnotationAssertion( "Watermelon Stomachs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2493"^^xsd:string) AnnotationAssertion(rdfs:label "gastric antral vascular ectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (angiodysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angiodysplasia"^^xsd:string) "A vascular disease that is characterized as a small vascular malformation of the gut. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016888"^^xsd:string) AnnotationAssertion( "angiodysplasia of stomach and duodenum with hemorrhage"^^xsd:string) AnnotationAssertion( "angiodysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2494"^^xsd:string) AnnotationAssertion(rdfs:label "angiodysplasia"^^xsd:string) SubClassOf( ) # Class: (senile angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4390"^^xsd:string) AnnotationAssertion( "RDO:9004815"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Senile hemangioma"^^xsd:string) AnnotationAssertion( "Senile naevus of skin"^^xsd:string) AnnotationAssertion( "DOID:2495"^^xsd:string) AnnotationAssertion(rdfs:label "senile angioma"^^xsd:string) SubClassOf( ) # Class: (enamel erosion) AnnotationAssertion( "ICD9CM:521.31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2497"^^xsd:string) AnnotationAssertion(rdfs:label "enamel erosion"^^xsd:string) SubClassOf( ) # Class: (tooth erosion) AnnotationAssertion(Annotation( "MESH:D014077"^^xsd:string) "Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)"^^xsd:string) AnnotationAssertion( "ICD10CM:K03.2"^^xsd:string) AnnotationAssertion( "ICD9CM:521.3"^^xsd:string) AnnotationAssertion( "MESH:D014077"^^xsd:string) AnnotationAssertion( "Tooth Erosions"^^xsd:string) AnnotationAssertion( "generalized erosion"^^xsd:string) AnnotationAssertion( "localized erosion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2498"^^xsd:string) AnnotationAssertion(rdfs:label "tooth erosion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Takayasu's arteritis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm"^^xsd:string) "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:207600"^^xsd:string) AnnotationAssertion( "EFO:1001857"^^xsd:string) AnnotationAssertion( "GARD:7730"^^xsd:string) AnnotationAssertion( "ICD10CM:M31.4"^^xsd:string) AnnotationAssertion( "ICD9CM:446.7"^^xsd:string) AnnotationAssertion( "MESH:D013625"^^xsd:string) AnnotationAssertion( "NCI:C34391"^^xsd:string) AnnotationAssertion( "NCI:C35062"^^xsd:string) AnnotationAssertion( "Takayasu Disease"^^xsd:string) AnnotationAssertion( "Takayasu arteritis"^^xsd:string) AnnotationAssertion( "Takayasu syndrome"^^xsd:string) AnnotationAssertion( "Takayasu's disease"^^xsd:string) AnnotationAssertion( "Takayasus Arteritis"^^xsd:string) AnnotationAssertion( "aortic arch arteritis"^^xsd:string) AnnotationAssertion( "aortitis syndrome"^^xsd:string) AnnotationAssertion( "idiopathic aortitis"^^xsd:string) AnnotationAssertion( "pulseless disease"^^xsd:string) AnnotationAssertion( "young female arteritides"^^xsd:string) AnnotationAssertion( "young female arteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2508"^^xsd:string) AnnotationAssertion(rdfs:label "Takayasu's arteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alcohol-induced mental disorder) AnnotationAssertion(Annotation( "MESH:D020751"^^xsd:string) "Disorders stemming from the misuse and abuse of alcohol."^^xsd:string) AnnotationAssertion( "ICD9CM:291.89"^^xsd:string) AnnotationAssertion( "MESH:D020751"^^xsd:string) AnnotationAssertion( "alcohol-induced disorder"^^xsd:string) AnnotationAssertion( "alcohol-induced disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:251"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol-induced mental disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kluver-Bucy syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm"^^xsd:string) "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007335"^^xsd:string) AnnotationAssertion( "MESH:D020232"^^xsd:string) AnnotationAssertion( "NCI:C84802"^^xsd:string) AnnotationAssertion( "Klver-Bucy syndrome"^^xsd:string) AnnotationAssertion( "temporal lobectomy behavior syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2510"^^xsd:string) AnnotationAssertion(rdfs:label "Kluver-Bucy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nevoid basal cell carcinoma syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/gorlin-syndrome/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/11932998/"^^xsd:string) "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004136"^^xsd:string) AnnotationAssertion( "GARD:7166"^^xsd:string) AnnotationAssertion( "MESH:D001478"^^xsd:string) AnnotationAssertion( "MIM:PS109400"^^xsd:string) AnnotationAssertion( "MONDO:0007187"^^xsd:string) AnnotationAssertion( "NCI:C2892"^^xsd:string) AnnotationAssertion( "ORDO:377"^^xsd:string) AnnotationAssertion( "BCNS"^^xsd:string) AnnotationAssertion( "Gorlin syndrome"^^xsd:string) AnnotationAssertion( "Gorlin-Goltz Syndrome"^^xsd:string) AnnotationAssertion( "NBCCS"^^xsd:string) AnnotationAssertion( "basal cell nevus syndrome"^^xsd:string) AnnotationAssertion( "fifth phacomatoses"^^xsd:string) AnnotationAssertion( "fifth phacomatosis"^^xsd:string) AnnotationAssertion( "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2512"^^xsd:string) AnnotationAssertion(rdfs:label "nevoid basal cell carcinoma syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basal cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Basal-cell_carcinoma"^^xsd:string) "A skin carcinoma affecting basal cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605462"^^xsd:string) AnnotationAssertion( "MIM:613058"^^xsd:string) AnnotationAssertion( "MIM:613059"^^xsd:string) AnnotationAssertion( "MIM:613061"^^xsd:string) AnnotationAssertion( "MIM:613062"^^xsd:string) AnnotationAssertion( "MIM:613063"^^xsd:string) AnnotationAssertion( "MIM:614740"^^xsd:string) AnnotationAssertion( "PTCH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0004193"^^xsd:string) AnnotationAssertion( "ICDO:8090/3"^^xsd:string) AnnotationAssertion( "MESH:D002280"^^xsd:string) AnnotationAssertion( "NCI:C134570"^^xsd:string) AnnotationAssertion( "NCI:C156767"^^xsd:string) AnnotationAssertion( "NCI:C2921"^^xsd:string) AnnotationAssertion( "NCI:C3784"^^xsd:string) AnnotationAssertion( "NCI:C7586"^^xsd:string) AnnotationAssertion( "Basal Cell Cancer"^^xsd:string) AnnotationAssertion( "Basal Cell Epitheliomas"^^xsd:string) AnnotationAssertion( "Basal cell tumor"^^xsd:string) AnnotationAssertion( "basal cell cancers"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of skin"^^xsd:string) AnnotationAssertion( "basal cell carcinomas"^^xsd:string) AnnotationAssertion( "basal cell epithelioma"^^xsd:string) AnnotationAssertion( "malignant basal cell neoplasm"^^xsd:string) AnnotationAssertion( "malignant basal cell tumor"^^xsd:string) AnnotationAssertion( "rodent ulcer"^^xsd:string) AnnotationAssertion( "rodent ulcers"^^xsd:string) AnnotationAssertion( "BASAL CELL CARCINOMA, SOMATIC"^^xsd:string) AnnotationAssertion( "BASAL CELL CARCINOMA, SPORADIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BCC1"^^xsd:string) AnnotationAssertion( "BCC2"^^xsd:string) AnnotationAssertion( "BCC3"^^xsd:string) AnnotationAssertion( "BCC4"^^xsd:string) AnnotationAssertion( "BCC5"^^xsd:string) AnnotationAssertion( "BCC6"^^xsd:string) AnnotationAssertion( "BCC7"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "basal cell carcinoma, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:2513"^^xsd:string) AnnotationAssertion(rdfs:label "basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial cavernous angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5432"^^xsd:string) AnnotationAssertion( "intracranial cavernoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2516"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial cavernous angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial structure hemangioma) AnnotationAssertion( "ICD10CM:D18.02"^^xsd:string) AnnotationAssertion( "ICD9CM:228.02"^^xsd:string) AnnotationAssertion( "NCI:C3633"^^xsd:string) AnnotationAssertion( "angioma of intracranial structure"^^xsd:string) AnnotationAssertion( "hemangioma of intracranial structure"^^xsd:string) AnnotationAssertion( "hemangioma of intracranial structures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2517"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial structure hemangioma"^^xsd:string) SubClassOf( ) # Class: (orchitis) AnnotationAssertion(Annotation( "MESH:D009920"^^xsd:string) "Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD."^^xsd:string) AnnotationAssertion( "EFO:1001078"^^xsd:string) AnnotationAssertion( "ICD10CM:N45.2"^^xsd:string) AnnotationAssertion( "MESH:D009920"^^xsd:string) AnnotationAssertion( "NCI:C97145"^^xsd:string) AnnotationAssertion( "Orchitides"^^xsd:string) AnnotationAssertion( "inflammation of testis"^^xsd:string) AnnotationAssertion( "orchititis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2518"^^xsd:string) AnnotationAssertion(rdfs:label "orchitis"^^xsd:string) SubClassOf( ) # Class: (testicular disease) AnnotationAssertion(Annotation( "MESH:D013733"^^xsd:string) "Pathological processes of the TESTIS."^^xsd:string) AnnotationAssertion( "EFO:0009601"^^xsd:string) AnnotationAssertion( "MESH:D013733"^^xsd:string) AnnotationAssertion( "NCI:C26890"^^xsd:string) AnnotationAssertion( "disorder of testis"^^xsd:string) AnnotationAssertion( "testicular diseases"^^xsd:string) AnnotationAssertion( "testis disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2519"^^xsd:string) AnnotationAssertion(rdfs:label "testicular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alcoholic psychosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459134/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22611692"^^xsd:string) "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001260"^^xsd:string) AnnotationAssertion( "ICD9CM:291.9"^^xsd:string) AnnotationAssertion( "MESH:D011604"^^xsd:string) AnnotationAssertion( "alcoholic psychoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:252"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic psychosis"^^xsd:string) SubClassOf( ) # Class: (prostate adenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/prostatecancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Prostate_cancer"^^xsd:string) "A prostate carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601188"^^xsd:string) AnnotationAssertion( "EFO:0000673"^^xsd:string) AnnotationAssertion( "NCI:C2919"^^xsd:string) AnnotationAssertion( "adenocarcinoma of prostate"^^xsd:string) AnnotationAssertion( "prostatic adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2526"^^xsd:string) AnnotationAssertion(rdfs:label "prostate adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nephrosis"^^xsd:string) "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009401"^^xsd:string) AnnotationAssertion( "nephroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2527"^^xsd:string) AnnotationAssertion(rdfs:label "nephrosis"^^xsd:string) SubClassOf( ) # Class: (splenic disease) AnnotationAssertion(Annotation( "MESH:D013158"^^xsd:string) "Diseases involving the SPLEEN."^^xsd:string) AnnotationAssertion( "EFO:0009002"^^xsd:string) AnnotationAssertion( "ICD10CM:D73"^^xsd:string) AnnotationAssertion( "ICD9CM:289.50"^^xsd:string) AnnotationAssertion( "MESH:D013158"^^xsd:string) AnnotationAssertion( "NCI:C35823"^^xsd:string) AnnotationAssertion( "dyssplenism"^^xsd:string) AnnotationAssertion( "spleen disease"^^xsd:string) AnnotationAssertion( "splenic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2529"^^xsd:string) AnnotationAssertion(rdfs:label "splenic disease"^^xsd:string) SubClassOf( ) # Class: (splenic abscess) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D73.3"^^xsd:string) AnnotationAssertion( "NCI:C35347"^^xsd:string) AnnotationAssertion( "RDO:9003944"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2530"^^xsd:string) AnnotationAssertion(rdfs:label "splenic abscess"^^xsd:string) SubClassOf( ) # Class: (hematologic cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blood_cancer"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary/?CdrID=45708"^^xsd:string) "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27134"^^xsd:string) AnnotationAssertion( "blood cancer"^^xsd:string) AnnotationAssertion( "hematologic malignancies"^^xsd:string) AnnotationAssertion( "hematologic malignancy"^^xsd:string) AnnotationAssertion( "hematological malignancies"^^xsd:string) AnnotationAssertion( "hematological malignancy"^^xsd:string) AnnotationAssertion( "hematological tumors"^^xsd:string) AnnotationAssertion( "hematopoietic and lymphoid system tumor"^^xsd:string) AnnotationAssertion( "hematopoietic cancer"^^xsd:string) AnnotationAssertion( "hematopoietic tumors"^^xsd:string) AnnotationAssertion( "malignant hematopoietic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2531"^^xsd:string) AnnotationAssertion(rdfs:label "hematologic cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic infarction) AnnotationAssertion(Annotation( "MESH:D013159"^^xsd:string) "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001190"^^xsd:string) AnnotationAssertion( "GARD:9973"^^xsd:string) AnnotationAssertion( "ICD10CM:D73.5"^^xsd:string) AnnotationAssertion( "MESH:D013159"^^xsd:string) AnnotationAssertion( "Infarct, Splenic"^^xsd:string) AnnotationAssertion( "Splenic Infarctions"^^xsd:string) AnnotationAssertion( "infarct of the spleen"^^xsd:string) AnnotationAssertion( "splenic infarcts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2533"^^xsd:string) AnnotationAssertion(rdfs:label "splenic infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic inflammatory demyelinating polyneuritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C84636"^^xsd:string) AnnotationAssertion( "RDO:9002723"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2536"^^xsd:string) AnnotationAssertion(rdfs:label "chronic inflammatory demyelinating polyneuritis"^^xsd:string) SubClassOf( ) # Class: (inflammatory and toxic neuropathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21897232/"^^xsd:string) "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2537"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory and toxic neuropathy"^^xsd:string) SubClassOf( ) # Class: (Landau-Kleffner syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/"^^xsd:string) "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001010"^^xsd:string) AnnotationAssertion( "GARD:6855"^^xsd:string) AnnotationAssertion( "ICD10CM:G40.8"^^xsd:string) AnnotationAssertion( "MESH:D018887"^^xsd:string) AnnotationAssertion( "NCI:C84806"^^xsd:string) AnnotationAssertion( "ORDO:98818"^^xsd:string) AnnotationAssertion( "Acquired Aphasia with Epilepsy"^^xsd:string) AnnotationAssertion( "Acquired Childhoood Aphasia with Convulsive Disorder"^^xsd:string) AnnotationAssertion( "Acquired Epileptic Aphasia"^^xsd:string) AnnotationAssertion( "Acquired Epileptic Aphasias"^^xsd:string) AnnotationAssertion( "Acquired Epileptiform Aphasia"^^xsd:string) AnnotationAssertion( "Acquired Epileptiform Aphasias"^^xsd:string) AnnotationAssertion( "LKS"^^xsd:string) AnnotationAssertion( "Landau Kleffner acquired epileptiform aphasia"^^xsd:string) AnnotationAssertion( "acquired aphasia with convulsive disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2538"^^xsd:string) AnnotationAssertion(rdfs:label "Landau-Kleffner syndrome"^^xsd:string) SubClassOf( ) # Class: (hemangioma of intra-abdominal structure) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D18.03"^^xsd:string) AnnotationAssertion( "ICD9CM:228.04"^^xsd:string) AnnotationAssertion( "NCI:C3635"^^xsd:string) AnnotationAssertion( "RDO:9002898"^^xsd:string) AnnotationAssertion( "hemangioma of intra-abdominal structures"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3635"^^xsd:string) "hemangioma, Intra-abdominal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:254"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of intra-abdominal structure"^^xsd:string) SubClassOf( ) # Class: (extratemporal epilepsy) AnnotationAssertion(Annotation( "http://www.webmd.com/epilepsy/extratemporal-cortical-resection"^^xsd:string) "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7760"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2544"^^xsd:string) AnnotationAssertion(rdfs:label "extratemporal epilepsy"^^xsd:string) SubClassOf( ) # Class: (reflex epilepsy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/"^^xsd:string) "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:132300"^^xsd:string) AnnotationAssertion( "EFO:1001146"^^xsd:string) AnnotationAssertion( "MESH:D020195"^^xsd:string) AnnotationAssertion( "NCI:C85041"^^xsd:string) AnnotationAssertion( "AGS"^^xsd:string) AnnotationAssertion( "Cursive Epilepsy"^^xsd:string) AnnotationAssertion( "Cursive Reflex Epilepsy (Running)"^^xsd:string) AnnotationAssertion( "Decision Making Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Eating Induced Epilepsy"^^xsd:string) AnnotationAssertion( "Eating-Induced Reflex Epilepsies"^^xsd:string) AnnotationAssertion( "Eating-Induced Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Epilepsies, Cursive"^^xsd:string) AnnotationAssertion( "Immersion Related Epilepsies"^^xsd:string) AnnotationAssertion( "Immersion Related Epilepsy"^^xsd:string) AnnotationAssertion( "Musicogenic Epilepsies"^^xsd:string) AnnotationAssertion( "Musicogenic Epilepsy"^^xsd:string) AnnotationAssertion( "Musicogenic Reflex Epilepsies"^^xsd:string) AnnotationAssertion( "Musicogenic Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Photosensitive Reflex Epilepsies"^^xsd:string) AnnotationAssertion( "Photosensitive Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Reading Epilepsies"^^xsd:string) AnnotationAssertion( "Reading Epilepsy"^^xsd:string) AnnotationAssertion( "Reading Reflex Epilepsies"^^xsd:string) AnnotationAssertion( "Reading Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Reflex Epilepsies"^^xsd:string) AnnotationAssertion( "cursive reflex epilepsies (running)"^^xsd:string) AnnotationAssertion( "eating-induced epilepsies"^^xsd:string) AnnotationAssertion( "epilepsy, sensory-induced"^^xsd:string) AnnotationAssertion( "visual pattern reflex epilepsy"^^xsd:string) AnnotationAssertion( "writing-induced reflex epilepsies"^^xsd:string) AnnotationAssertion( "writing-induced reflex epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2548"^^xsd:string) AnnotationAssertion(rdfs:label "reflex epilepsy"^^xsd:string) SubClassOf( ) # Class: (hemangioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemangioma"^^xsd:string) "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009908"^^xsd:string) AnnotationAssertion( "EFO:1000635"^^xsd:string) AnnotationAssertion( "ICD9CM:228.00"^^xsd:string) AnnotationAssertion( "ICDO:9120/0"^^xsd:string) AnnotationAssertion( "MESH:D006391"^^xsd:string) AnnotationAssertion( "NCI:C3085"^^xsd:string) AnnotationAssertion( "angioma"^^xsd:string) AnnotationAssertion( "chorangioma"^^xsd:string) AnnotationAssertion( "chorangiomas"^^xsd:string) AnnotationAssertion( "hemangiomas"^^xsd:string) AnnotationAssertion( "glabellar hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:255"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tactile epilepsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4687"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2550"^^xsd:string) AnnotationAssertion(rdfs:label "tactile epilepsy"^^xsd:string) SubClassOf( ) # Class: (granulomatous angiitis) AnnotationAssertion( "MESH:C537295"^^xsd:string) AnnotationAssertion( "NCI:C34653"^^xsd:string) AnnotationAssertion( "granulomatous angiitis of CNS"^^xsd:string) AnnotationAssertion( "granulomatous angiitis of the central nervous system"^^xsd:string) AnnotationAssertion( "granulomatous angiitis of the nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2555"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous angiitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (relapsing polychondritis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26711694/"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis"^^xsd:string) "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001148"^^xsd:string) AnnotationAssertion( "GARD:7417"^^xsd:string) AnnotationAssertion( "ICD10CM:M94.1"^^xsd:string) AnnotationAssertion( "MESH:D011081"^^xsd:string) AnnotationAssertion( "NCI:C157268"^^xsd:string) AnnotationAssertion( "chondromalacia, systemic"^^xsd:string) AnnotationAssertion( "chronic atrophic polychondritides"^^xsd:string) AnnotationAssertion( "chronic atrophic polychondritis"^^xsd:string) AnnotationAssertion( "relapsing polychondritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2556"^^xsd:string) AnnotationAssertion(rdfs:label "relapsing polychondritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chondromalacia) AnnotationAssertion(Annotation( "https://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z"^^xsd:string) "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M94.2"^^xsd:string) AnnotationAssertion( "ICD9CM:733.92"^^xsd:string) AnnotationAssertion( "MONDO:0002342"^^xsd:string) AnnotationAssertion( "chondromalacias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2557"^^xsd:string) AnnotationAssertion(rdfs:label "chondromalacia"^^xsd:string) SubClassOf( ) # Class: (opiate dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Opiate_dependency"^^xsd:string) "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:610064"^^xsd:string) AnnotationAssertion( "EFO:0005611"^^xsd:string) AnnotationAssertion( "ICD10CM:F11.2"^^xsd:string) AnnotationAssertion( "ICD9CM:304.00"^^xsd:string) AnnotationAssertion( "MESH:D009293"^^xsd:string) AnnotationAssertion( "Disorder, Opioid-Related"^^xsd:string) AnnotationAssertion( "Narcotic Abuse"^^xsd:string) AnnotationAssertion( "Narcotic Abuses"^^xsd:string) AnnotationAssertion( "Narcotic Addiction"^^xsd:string) AnnotationAssertion( "Narcotic Dependence"^^xsd:string) AnnotationAssertion( "ODS1"^^xsd:string) AnnotationAssertion( "Opiate Addiction"^^xsd:string) AnnotationAssertion( "Opioid-Related Disorders"^^xsd:string) AnnotationAssertion( "opioid addiction"^^xsd:string) AnnotationAssertion( "opioid dependence"^^xsd:string) AnnotationAssertion( "opioid type dependence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:2559"^^xsd:string) AnnotationAssertion(rdfs:label "opiate dependence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemangioma of spleen) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8541"^^xsd:string) AnnotationAssertion( "splenic hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:256"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of spleen"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (morphine dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Opioid_dependence"^^xsd:string) "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005612"^^xsd:string) AnnotationAssertion( "MESH:D009021"^^xsd:string) AnnotationAssertion( "morphine abuse"^^xsd:string) AnnotationAssertion( "morphine addiction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2560"^^xsd:string) AnnotationAssertion(rdfs:label "morphine dependence"^^xsd:string) SubClassOf( ) # Class: (suppurative periapical periodontitis) AnnotationAssertion(Annotation( "MESH:D010482"^^xsd:string) "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001202"^^xsd:string) AnnotationAssertion( "MESH:D010482"^^xsd:string) AnnotationAssertion( "NCI:C34913"^^xsd:string) AnnotationAssertion( "Apical Alveolar Abscess"^^xsd:string) AnnotationAssertion( "Apical Dentoalveolar Abscess"^^xsd:string) AnnotationAssertion( "Apical Dentoalveolar Abscesses"^^xsd:string) AnnotationAssertion( "Dentoalveolar abscess"^^xsd:string) AnnotationAssertion( "Periapical Abscess"^^xsd:string) AnnotationAssertion( "Periapical Abscesses"^^xsd:string) AnnotationAssertion( "Periodontitis, Apical, Suppurative"^^xsd:string) AnnotationAssertion( "apical abscess"^^xsd:string) AnnotationAssertion( "apical alveolar abscesses"^^xsd:string) AnnotationAssertion( "suppurative periapical periodontitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2562"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative periapical periodontitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (macular corneal dystrophy) AnnotationAssertion(Annotation( "http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Macular_corneal_dystrophy"^^xsd:string) Annotation( "http://www.omim.org/entry/217800?search=217800&highlight=217800"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11017086"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17093400"^^xsd:string) "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537834"^^xsd:string) AnnotationAssertion( "MESH:C563270"^^xsd:string) AnnotationAssertion( "OMIA:002071"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.55"^^xsd:string) AnnotationAssertion( "ICD9CM:371.55"^^xsd:string) AnnotationAssertion( "MIM:217800"^^xsd:string) AnnotationAssertion( "NCI:C34793"^^xsd:string) AnnotationAssertion( "Fehr corneal dystrophy"^^xsd:string) AnnotationAssertion( "Groenouw type II corneal dystrophy"^^xsd:string) AnnotationAssertion( "MCD"^^xsd:string) AnnotationAssertion( "corneal dystrophy, macular type"^^xsd:string) AnnotationAssertion( "corneal macular dystrophies"^^xsd:string) AnnotationAssertion( "MCDC1"^^xsd:string) AnnotationAssertion( "Macular Corneal Dystrophy Type 1"^^xsd:string) AnnotationAssertion( "Macular Corneal Dystrophy, Type I"^^xsd:string) AnnotationAssertion( "macular corneal dystrophy 1"^^xsd:string) AnnotationAssertion( "macular corneal dystrophy type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2565"^^xsd:string) AnnotationAssertion(rdfs:label "macular corneal dystrophy"^^xsd:string) SubClassOf( ) # Class: (corneal dystrophy) AnnotationAssertion(Annotation( "MESH:D003317"^^xsd:string) "Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect."^^xsd:string) AnnotationAssertion( "ICD9CM:371.5"^^xsd:string) AnnotationAssertion( "MESH:D003317"^^xsd:string) AnnotationAssertion( "NCI:C34512"^^xsd:string) AnnotationAssertion( "NCI:C34513"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, DOMINANT/RECESSIVE"^^xsd:string) AnnotationAssertion( "Corneal Stromal Dystrophies"^^xsd:string) AnnotationAssertion( "Corneal Stromal Dystrophy"^^xsd:string) AnnotationAssertion( "Groenouw Dystrophies"^^xsd:string) AnnotationAssertion( "Groenouw's Dystrophies"^^xsd:string) AnnotationAssertion( "Groenouws dystrophies"^^xsd:string) AnnotationAssertion( "hereditary corneal dystrophies"^^xsd:string) AnnotationAssertion( "hereditary corneal dystrophy"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, DOMINANT"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, RECESSIVE"^^xsd:string) AnnotationAssertion( "Corneal Granular Dystrophies"^^xsd:string) AnnotationAssertion( "Corneal Granular Dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2566"^^xsd:string) AnnotationAssertion(rdfs:label "corneal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervicitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23584805"^^xsd:string) "A cervix disease that is characterized by inflammation of the cervix. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N72"^^xsd:string) AnnotationAssertion( "ICD9CM:616.0"^^xsd:string) AnnotationAssertion( "MESH:D002575"^^xsd:string) AnnotationAssertion( "NCI:C26716"^^xsd:string) AnnotationAssertion( "cervicitides"^^xsd:string) AnnotationAssertion( "uterine cervicitides"^^xsd:string) AnnotationAssertion( "uterine cervicitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2568"^^xsd:string) AnnotationAssertion(rdfs:label "cervicitis"^^xsd:string) SubClassOf( ) # Class: (retinal drusen) AnnotationAssertion(Annotation( "MESH:D015593"^^xsd:string) "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium."^^xsd:string) AnnotationAssertion( "EFO:1001155"^^xsd:string) AnnotationAssertion( "ICD9CM:362.57"^^xsd:string) AnnotationAssertion( "MESH:D015593"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2569"^^xsd:string) AnnotationAssertion(rdfs:label "retinal drusen"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant histiocytic disease) AnnotationAssertion(Annotation( "MESH:D015620"^^xsd:string) "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS."^^xsd:string) AnnotationAssertion( "MESH:D015620"^^xsd:string) AnnotationAssertion( "RDO:0006909"^^xsd:string) AnnotationAssertion( "Malignant Histiocytic Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2570"^^xsd:string) AnnotationAssertion(rdfs:label "malignant histiocytic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Langerhans-cell histiocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis"^^xsd:string) "A histiocytosis that is characterized by clonal proliferation of Langerhans cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604856"^^xsd:string) AnnotationAssertion( "EFO:1000318"^^xsd:string) AnnotationAssertion( "ICD10CM:C96.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C96.6"^^xsd:string) AnnotationAssertion( "ICD9CM:202.5"^^xsd:string) AnnotationAssertion( "ICDO:9751/1"^^xsd:string) AnnotationAssertion( "MESH:D006646"^^xsd:string) AnnotationAssertion( "NCI:C158785"^^xsd:string) AnnotationAssertion( "NCI:C3107"^^xsd:string) AnnotationAssertion( "NCI:C3160"^^xsd:string) AnnotationAssertion( "NCI:C6920"^^xsd:string) AnnotationAssertion( "Generalized Histiocytosis"^^xsd:string) AnnotationAssertion( "Hand Schueller Christian Disease"^^xsd:string) AnnotationAssertion( "Hand Schueller Christian Syndrome"^^xsd:string) AnnotationAssertion( "Hand Schüller Christian Disease"^^xsd:string) AnnotationAssertion( "Hand Schüller Christian Syndrome"^^xsd:string) AnnotationAssertion( "Hashimoto-Pritzger Disease"^^xsd:string) AnnotationAssertion( "Histiocytosis X"^^xsd:string) AnnotationAssertion( "Langerhan's cell histiocytosis"^^xsd:string) AnnotationAssertion( "Langerhans Cell Granulomatosis"^^xsd:string) AnnotationAssertion( "Langerhans cell granulomatoses"^^xsd:string) AnnotationAssertion( "Langerhans cell histiocytoses"^^xsd:string) AnnotationAssertion( "Letterer Siwe Disease"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving intra-abdominal lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving intrapelvic lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving intrathoracic lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving lymph nodes of axilla and upper limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving lymph nodes of head, face, and neck"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving lymph nodes of multiple sites"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease involving spleen"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of intra-abdominal lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of intrapelvic lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of intrathoracic lymph nodes"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of axilla and upper limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of head, face and neck"^^xsd:string) AnnotationAssertion( "Non Lipid Reticuloendotheliosis"^^xsd:string) AnnotationAssertion( "Non-Lipid Reticuloendothelioses"^^xsd:string) AnnotationAssertion( "Pulmonary Histiocytosis X"^^xsd:string) AnnotationAssertion( "Pulmonary Langerhans Cell Granulomatosis"^^xsd:string) AnnotationAssertion( "Schueller Christian Disease"^^xsd:string) AnnotationAssertion( "Systemic Aleukemic Reticuloendothelioses"^^xsd:string) AnnotationAssertion( "generalized histiocytoses"^^xsd:string) AnnotationAssertion( "systemic aleukemic reticuloendotheliosis"^^xsd:string) AnnotationAssertion( "type 2 histiocytoses"^^xsd:string) AnnotationAssertion( "type 2 histiocytosis"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of head, face and/or neck"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of lymph nodes of multiple sites"^^xsd:string) AnnotationAssertion( "Letterer-Siwe disease of spleen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2571"^^xsd:string) AnnotationAssertion(rdfs:label "Langerhans-cell histiocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (barbiturate dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Barbiturate_dependence"^^xsd:string) "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:304.11"^^xsd:string) AnnotationAssertion( "RDO:9002639"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2575"^^xsd:string) AnnotationAssertion(rdfs:label "barbiturate dependence"^^xsd:string) SubClassOf( ) # Class: (rhizomelic chondrodysplasia punctata) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15679822"^^xsd:string) "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:13160"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.540"^^xsd:string) AnnotationAssertion( "MESH:D018902"^^xsd:string) AnnotationAssertion( "MIM:PS215100"^^xsd:string) AnnotationAssertion( "NCI:C85047"^^xsd:string) AnnotationAssertion( "ORDO:177"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata, rhizomelic form"^^xsd:string) AnnotationAssertion( "rhizomelic chondrodysplasia punctatas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2580"^^xsd:string) AnnotationAssertion(rdfs:label "rhizomelic chondrodysplasia punctata"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chondrodysplasia punctata) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22229330"^^xsd:string) "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565853"^^xsd:string) AnnotationAssertion( "MIM:215105"^^xsd:string) AnnotationAssertion( "GARD:8542"^^xsd:string) AnnotationAssertion( "MESH:D002806"^^xsd:string) AnnotationAssertion( "NCI:C84632"^^xsd:string) AnnotationAssertion( "ORDO:93442"^^xsd:string) AnnotationAssertion( "chondrodysplasia calcificans congenita"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata congenita"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata syndrome"^^xsd:string) AnnotationAssertion( "chondrodystrophia calcificans congenita"^^xsd:string) AnnotationAssertion( "dysplasia epiphysialis punctata"^^xsd:string) AnnotationAssertion( "stippled epiphyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2581"^^xsd:string) AnnotationAssertion(rdfs:label "chondrodysplasia punctata"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acatalasia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1999334/"^^xsd:string) "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614097"^^xsd:string) AnnotationAssertion( "OMIA:001138"^^xsd:string) AnnotationAssertion( "EFO:0004144"^^xsd:string) AnnotationAssertion( "GARD:363"^^xsd:string) AnnotationAssertion( "MESH:D020642"^^xsd:string) AnnotationAssertion( "NCI:C84526"^^xsd:string) AnnotationAssertion( "ORDO:926"^^xsd:string) AnnotationAssertion( "Acatalasemia"^^xsd:string) AnnotationAssertion( "Acatalasemia Japanese Type"^^xsd:string) AnnotationAssertion( "Acatalasemia Swiss Type"^^xsd:string) AnnotationAssertion( "Catalase Deficiencies"^^xsd:string) AnnotationAssertion( "Catalase Deficiency"^^xsd:string) AnnotationAssertion( "Hypocatalasemia"^^xsd:string) AnnotationAssertion( "Hypocatalasia"^^xsd:string) AnnotationAssertion( "Takahara Disease"^^xsd:string) AnnotationAssertion( "Takahara's Disease"^^xsd:string) AnnotationAssertion( "Takaharas Disease"^^xsd:string) AnnotationAssertion( "deficiency of catalase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2582"^^xsd:string) AnnotationAssertion(rdfs:label "acatalasia"^^xsd:string) SubClassOf( ) # Class: (agammaglobulinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgammaglobulinemia"^^xsd:string) "A B cell deficiency that is caused by a reduction in all types of gamma globulins. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D80.1"^^xsd:string) AnnotationAssertion( "ICD9CM:279.00"^^xsd:string) AnnotationAssertion( "MESH:D000361"^^xsd:string) AnnotationAssertion( "MIM:PS601495"^^xsd:string) AnnotationAssertion( "NCI:C26931"^^xsd:string) AnnotationAssertion( "agammaglobulinemias"^^xsd:string) AnnotationAssertion( "hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "hypogammaglobulinemias"^^xsd:string) AnnotationAssertion( "mu heavy chain deficiency"^^xsd:string) AnnotationAssertion( "IGHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2583"^^xsd:string) AnnotationAssertion(rdfs:label "agammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial nephrotic syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19066979"^^xsd:string) "A nephrotic syndrome that has_material_basis_in genetic mutations. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N04"^^xsd:string) AnnotationAssertion( "MESH:C535761"^^xsd:string) AnnotationAssertion( "MIM:PS256300"^^xsd:string) AnnotationAssertion( "NCI:C35337"^^xsd:string) AnnotationAssertion( "ORDO:564127"^^xsd:string) AnnotationAssertion( "CNF"^^xsd:string) AnnotationAssertion( "congenital nephrosis"^^xsd:string) AnnotationAssertion( "congenital nephrotic syndrome"^^xsd:string) AnnotationAssertion( "genetic nephrotic syndrome"^^xsd:string) AnnotationAssertion( "hereditary nephrotic syndrome"^^xsd:string) AnnotationAssertion( "hereditary nephrotic syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2590"^^xsd:string) AnnotationAssertion(rdfs:label "familial nephrotic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glottis cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C32.0"^^xsd:string) AnnotationAssertion( "ICD9CM:161.0"^^xsd:string) AnnotationAssertion( "NCI:C3544"^^xsd:string) AnnotationAssertion( "Ca larynx - glottis"^^xsd:string) AnnotationAssertion( "malignant tumor of glottis"^^xsd:string) AnnotationAssertion( "malignant tumor of the Glottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2595"^^xsd:string) AnnotationAssertion(rdfs:label "glottis cancer"^^xsd:string) SubClassOf( ) # Class: (larynx cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Larynx"^^xsd:string) "A respiratory system cancer that is located_in the larynx. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000354"^^xsd:string) AnnotationAssertion( "GARD:6862"^^xsd:string) AnnotationAssertion( "ICD10CM:C32"^^xsd:string) AnnotationAssertion( "ICD9CM:161"^^xsd:string) AnnotationAssertion( "NCI:C7484"^^xsd:string) AnnotationAssertion( "Malignant Laryngeal Neoplasm"^^xsd:string) AnnotationAssertion( "laryngeal cancer"^^xsd:string) AnnotationAssertion( "laryngeal cancers"^^xsd:string) AnnotationAssertion( "larynx cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2596"^^xsd:string) AnnotationAssertion(rdfs:label "larynx cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glottis neoplasm) AnnotationAssertion( "NCI:C4425"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126693009"^^xsd:string) "neoplasm of glottis"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4425"^^xsd:string) "tumor of the Glottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2597"^^xsd:string) AnnotationAssertion(rdfs:label "glottis neoplasm"^^xsd:string) SubClassOf( ) # Class: (laryngeal benign neoplasm) AnnotationAssertion( "NCI:C3156"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2598"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glottis carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4923"^^xsd:string) AnnotationAssertion( "RDO:9002225"^^xsd:string) AnnotationAssertion( "Glottic carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of glottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2599"^^xsd:string) AnnotationAssertion(rdfs:label "glottis carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreas disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pancreatic_disease"^^xsd:string) "An endocrine system disease that is located_in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009605"^^xsd:string) AnnotationAssertion( "ICD10CM:K86.8"^^xsd:string) AnnotationAssertion( "ICD10CM:K86.89"^^xsd:string) AnnotationAssertion( "ICD9CM:577.8"^^xsd:string) AnnotationAssertion( "MESH:D010182"^^xsd:string) AnnotationAssertion( "pancreatic disease"^^xsd:string) AnnotationAssertion( "pancreatic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:26"^^xsd:string) AnnotationAssertion(rdfs:label "pancreas disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic flexure cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.3"^^xsd:string) AnnotationAssertion( "ICD9CM:153.0"^^xsd:string) AnnotationAssertion( "Ca hepatic flexure - colon"^^xsd:string) AnnotationAssertion( "malignant neoplasm of hepatic flexure"^^xsd:string) AnnotationAssertion( "malignant tumor of hepatic flexure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:260"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic flexure cancer"^^xsd:string) SubClassOf( ) # Class: (laryngeal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A larynx cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "cancer of larynx"^^xsd:string) AnnotationAssertion( "NCI:C4855"^^xsd:string) AnnotationAssertion( "carcinoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2600"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juxtacortical chondroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4302"^^xsd:string) AnnotationAssertion( "periosteal chondroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2601"^^xsd:string) AnnotationAssertion(rdfs:label "juxtacortical chondroma"^^xsd:string) SubClassOf( ) # Class: (chondroma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondroma"^^xsd:string) "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6052"^^xsd:string) AnnotationAssertion( "ICDO:9220/0"^^xsd:string) AnnotationAssertion( "MESH:D002812"^^xsd:string) AnnotationAssertion( "NCI:C3007"^^xsd:string) AnnotationAssertion( "NCI:C53459"^^xsd:string) AnnotationAssertion( "Chondromas"^^xsd:string) AnnotationAssertion( "Enchondroma"^^xsd:string) AnnotationAssertion( "Enchondromas"^^xsd:string) AnnotationAssertion( "central chondroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2602"^^xsd:string) AnnotationAssertion(rdfs:label "chondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenomyoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenomyoma"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in gland and muscle components. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007133"^^xsd:string) AnnotationAssertion( "ICDO:8932/0"^^xsd:string) AnnotationAssertion( "MESH:D018194"^^xsd:string) AnnotationAssertion( "NCI:C3726"^^xsd:string) AnnotationAssertion( "adenomyomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2609"^^xsd:string) AnnotationAssertion(rdfs:label "adenomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (transverse colon cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.4"^^xsd:string) AnnotationAssertion( "ICD9CM:153.1"^^xsd:string) AnnotationAssertion( "RDO:9004769"^^xsd:string) AnnotationAssertion( "Ca transverse colon"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363408006"^^xsd:string) "malignant tumor of transverse colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:261"^^xsd:string) AnnotationAssertion(rdfs:label "transverse colon cancer"^^xsd:string) SubClassOf( ) # Class: (serous surface papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8461/0"^^xsd:string) AnnotationAssertion( "NCI:C4181"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2614"^^xsd:string) AnnotationAssertion(rdfs:label "serous surface papilloma"^^xsd:string) SubClassOf( ) # Class: (papilloma) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medlineplus/papilloma"^^xsd:string) "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000335"^^xsd:string) AnnotationAssertion( "ICDO:8050/0"^^xsd:string) AnnotationAssertion( "MESH:D010212"^^xsd:string) AnnotationAssertion( "NCI:C24015"^^xsd:string) AnnotationAssertion( "NCI:C3713"^^xsd:string) AnnotationAssertion( "NCI:C7440"^^xsd:string) AnnotationAssertion( "papillomas"^^xsd:string) AnnotationAssertion( "papillomatoses"^^xsd:string) AnnotationAssertion( "papillomatosis"^^xsd:string) AnnotationAssertion( "Lung Papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2615"^^xsd:string) AnnotationAssertion(rdfs:label "papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wolffian duct adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14515653"^^xsd:string) "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4294"^^xsd:string) AnnotationAssertion( "benign mesonephroma"^^xsd:string) AnnotationAssertion( "mesonephric adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2616"^^xsd:string) AnnotationAssertion(rdfs:label "Wolffian duct adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney hemangiopericytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemangiopericytoma"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/"^^xsd:string) "A kidney cancer which is manifested in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4527"^^xsd:string) AnnotationAssertion( "hemangiopericytoma of kidney"^^xsd:string) AnnotationAssertion( "renal hemangiopericytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:262"^^xsd:string) AnnotationAssertion(rdfs:label "kidney hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autonomic nervous system neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autonomic_nervous_system"^^xsd:string) "A peripheral nervous system neoplasm that is located_in the autonomic nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5112"^^xsd:string) AnnotationAssertion( "tumor of autonomic nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2621"^^xsd:string) AnnotationAssertion(rdfs:label "autonomic nervous system neoplasm"^^xsd:string) SubClassOf( ) # Class: (choroid plexus papilloma) AnnotationAssertion(Annotation( "MESH:D020288"^^xsd:string) "A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)"^^xsd:string) AnnotationAssertion( "MIM:260500"^^xsd:string) AnnotationAssertion( "EFO:1000177"^^xsd:string) AnnotationAssertion( "GARD:4214"^^xsd:string) AnnotationAssertion( "ICDO:9390/0"^^xsd:string) AnnotationAssertion( "MESH:D020288"^^xsd:string) AnnotationAssertion( "NCI:C3698"^^xsd:string) AnnotationAssertion( "NCI:C5800"^^xsd:string) AnnotationAssertion( "CPP"^^xsd:string) AnnotationAssertion( "childhood choroid plexus papilloma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:18021007"^^xsd:string) "choroid plexus papilloma, no ICD-O subtype"^^xsd:string) AnnotationAssertion( "choroid plexus papillomas"^^xsd:string) AnnotationAssertion( "papilloma of choroid plexus"^^xsd:string) AnnotationAssertion( "papilloma of the choroid plexus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5800"^^xsd:string) "pediatric papilloma of choroid plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "childhood papilloma of choroid plexus"^^xsd:string) AnnotationAssertion( "DOID:2626"^^xsd:string) AnnotationAssertion(rdfs:label "choroid plexus papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (kidney cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kidney_cancer"^^xsd:string) "A urinary system cancer that is located_in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "DOID:3676"^^xsd:string) AnnotationAssertion( "ICD10CM:C64"^^xsd:string) AnnotationAssertion( "ICD9CM:189.0"^^xsd:string) AnnotationAssertion( "MONDO:0002367"^^xsd:string) AnnotationAssertion( "NCI:C120456"^^xsd:string) AnnotationAssertion( "NCI:C3150"^^xsd:string) AnnotationAssertion( "NCI:C7548"^^xsd:string) AnnotationAssertion( "cancer of kidney"^^xsd:string) AnnotationAssertion( "cancer of the kidney"^^xsd:string) AnnotationAssertion( "kidney cancers"^^xsd:string) AnnotationAssertion( "malignant neoplasm of kidney except pelvis"^^xsd:string) AnnotationAssertion( "malignant tumour of kidney"^^xsd:string) AnnotationAssertion( "renal cancer"^^xsd:string) AnnotationAssertion( "renal cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:263"^^xsd:string) AnnotationAssertion(rdfs:label "kidney cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary serous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534"^^xsd:string) "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000377"^^xsd:string) AnnotationAssertion( "NCI:C4182"^^xsd:string) AnnotationAssertion( "NCI:C6882"^^xsd:string) AnnotationAssertion( "NCI:C8377"^^xsd:string) AnnotationAssertion( "micropapillary serous carcinoma"^^xsd:string) AnnotationAssertion( "papillary serous carcinoma"^^xsd:string) AnnotationAssertion( "serous surface papillary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2632"^^xsd:string) AnnotationAssertion(rdfs:label "papillary serous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (cystadenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cystadenoma"^^xsd:string) "An adenoma that forms a cyst. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8440/0"^^xsd:string) AnnotationAssertion( "MESH:D003537"^^xsd:string) AnnotationAssertion( "NCI:C2972"^^xsd:string) AnnotationAssertion( "cystadenomas"^^xsd:string) AnnotationAssertion( "cystoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2634"^^xsd:string) AnnotationAssertion(rdfs:label "cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian Brenner tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brenner_tumour"^^xsd:string) "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000112"^^xsd:string) AnnotationAssertion( "EFO:1000135"^^xsd:string) AnnotationAssertion( "GARD:9397"^^xsd:string) AnnotationAssertion( "NCI:C3872"^^xsd:string) AnnotationAssertion( "NCI:C39954"^^xsd:string) AnnotationAssertion( "Brenner tumor of ovary"^^xsd:string) AnnotationAssertion( "benign Brenner tumor"^^xsd:string) AnnotationAssertion( "benign ovarian Brenner tumor"^^xsd:string) AnnotationAssertion( "benign ovarian Brenner tumour"^^xsd:string) AnnotationAssertion( "ovarian Brenner tumour"^^xsd:string) AnnotationAssertion( "ovary Brenner tumor"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Brenner Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2636"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian Brenner tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast pericanalicular fibroadenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string) "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4272"^^xsd:string) AnnotationAssertion( "RDO:9004269"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:41382006"^^xsd:string) "Pericanalicular fibroadenoma"^^xsd:string) AnnotationAssertion( "pericanalicular fibroadenoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2639"^^xsd:string) AnnotationAssertion(rdfs:label "breast pericanalicular fibroadenoma"^^xsd:string) SubClassOf( ) # Class: (hemangiopericytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemangiopericytoma"^^xsd:string) "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2627"^^xsd:string) AnnotationAssertion( "ICDO:9150/3"^^xsd:string) AnnotationAssertion( "MESH:D006393"^^xsd:string) AnnotationAssertion( "MONDO:0005094"^^xsd:string) AnnotationAssertion( "NCI:C3087"^^xsd:string) AnnotationAssertion( "haemangiopericytic meningioma"^^xsd:string) AnnotationAssertion( "hemangiopericytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:264"^^xsd:string) AnnotationAssertion(rdfs:label "hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (struma ovarii) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25640097"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26374222"^^xsd:string) "An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. (DO)"^^xsd:string) AnnotationAssertion( "DOID:5209"^^xsd:string) AnnotationAssertion( "EFO:1001192"^^xsd:string) AnnotationAssertion( "ICDO:9090/0"^^xsd:string) AnnotationAssertion( "MESH:D013330"^^xsd:string) AnnotationAssertion( "NCI:C7468"^^xsd:string) AnnotationAssertion( "benign struma ovarii"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2640"^^xsd:string) AnnotationAssertion(rdfs:label "struma ovarii"^^xsd:string) SubClassOf( ) # Class: (ovarian germ cell monodermal and highly specialized teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12440821"^^xsd:string) "A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8113"^^xsd:string) AnnotationAssertion( "ovarian monodermal and highly specialized teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2641"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian germ cell monodermal and highly specialized teratoma"^^xsd:string) SubClassOf( ) # Class: (perivascular epithelioid cell tumor) AnnotationAssertion(Annotation( "MESH:D054973"^^xsd:string) "A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)."^^xsd:string) AnnotationAssertion( "EFO:1000464"^^xsd:string) AnnotationAssertion( "MESH:D054973"^^xsd:string) AnnotationAssertion( "NCI:C38150"^^xsd:string) AnnotationAssertion( "RDO:0007098"^^xsd:string) AnnotationAssertion( "CCMMT"^^xsd:string) AnnotationAssertion( "Clear Cell Myomelanocytic Tumors"^^xsd:string) AnnotationAssertion( "Clear Cell Sugar Tumors"^^xsd:string) AnnotationAssertion( "Clear-Cell Myomelanocytic Tumor"^^xsd:string) AnnotationAssertion( "Clear-Cell Sugar Tumor"^^xsd:string) AnnotationAssertion( "PEComa"^^xsd:string) AnnotationAssertion( "PEComas"^^xsd:string) AnnotationAssertion( "Perivascular Epithelioid Cell Neoplasms"^^xsd:string) AnnotationAssertion( "Perivascular Epithelioid Cell Tumors"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C38150"^^xsd:string) "neoplasm with Perivascular epithelioid cell differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2643"^^xsd:string) AnnotationAssertion(rdfs:label "perivascular epithelioid cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign mesothelioma) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in mesothelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C45"^^xsd:string) AnnotationAssertion( "MONDO:0002373"^^xsd:string) AnnotationAssertion( "NCI:C3234"^^xsd:string) AnnotationAssertion( "benign tumor of mesothelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2645"^^xsd:string) AnnotationAssertion(rdfs:label "benign mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parachordoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000452"^^xsd:string) AnnotationAssertion( "ICDO:9373/0"^^xsd:string) AnnotationAssertion( "NCI:C6581"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2647"^^xsd:string) AnnotationAssertion(rdfs:label "parachordoma"^^xsd:string) SubClassOf( ) # Class: (sebaceous adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4174"^^xsd:string) AnnotationAssertion( "adenoma of the sebaceous gland"^^xsd:string) AnnotationAssertion( "skin appendage sebaceous adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2648"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous adenoma"^^xsd:string) SubClassOf( ) # Class: (chondroblastoma) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK536947/"^^xsd:string) "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000331"^^xsd:string) AnnotationAssertion( "GARD:6047"^^xsd:string) AnnotationAssertion( "ICDO:9230/1"^^xsd:string) AnnotationAssertion( "MESH:D002804"^^xsd:string) AnnotationAssertion( "NCI:C2945"^^xsd:string) AnnotationAssertion( "chondroblastoma of bone"^^xsd:string) AnnotationAssertion( "chondroblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2649"^^xsd:string) AnnotationAssertion(rdfs:label "chondroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spleen angiosarcoma) AnnotationAssertion(Annotation( "https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308"^^xsd:string) "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4564"^^xsd:string) AnnotationAssertion( "angiosarcoma of spleen"^^xsd:string) AnnotationAssertion( "splenic hemangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:265"^^xsd:string) AnnotationAssertion(rdfs:label "spleen angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign fibrous mesothelioma) AnnotationAssertion(Annotation( "MESH:D054363"^^xsd:string) "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure."^^xsd:string) AnnotationAssertion( "EFO:1000835"^^xsd:string) AnnotationAssertion( "MESH:D054363"^^xsd:string) AnnotationAssertion( "NCI:C4457"^^xsd:string) AnnotationAssertion( "RDO:0007670"^^xsd:string) AnnotationAssertion( "Fibrous Mesothelioma"^^xsd:string) AnnotationAssertion( "Fibrous Mesotheliomas"^^xsd:string) AnnotationAssertion( "Localized Fibrous Mesothelioma"^^xsd:string) AnnotationAssertion( "Localized Fibrous Mesotheliomas"^^xsd:string) AnnotationAssertion( "Localized Mesothelioma"^^xsd:string) AnnotationAssertion( "Localized Mesotheliomas"^^xsd:string) AnnotationAssertion( "Solitary Fibrous Mesothelioma"^^xsd:string) AnnotationAssertion( "Solitary Fibrous Mesotheliomas"^^xsd:string) AnnotationAssertion( "Solitary Fibrous Tumor of the Pleura"^^xsd:string) AnnotationAssertion( "Solitary Fibrous Tumor, Pleural"^^xsd:string) AnnotationAssertion( "Submesothelial Fibroma"^^xsd:string) AnnotationAssertion( "benign fibrous mesotheliomas"^^xsd:string) AnnotationAssertion( "localized benign fibrous mesothelioma"^^xsd:string) AnnotationAssertion( "submesothelial fibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2653"^^xsd:string) AnnotationAssertion(rdfs:label "benign fibrous mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast intracanalicular fibroadenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibroadenoma"^^xsd:string) "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4271"^^xsd:string) AnnotationAssertion( "RDO:9004270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2656"^^xsd:string) AnnotationAssertion(rdfs:label "breast intracanalicular fibroadenoma"^^xsd:string) SubClassOf( ) # Class: (dermoid cyst) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Dermoid_cyst"^^xsd:string) "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000894"^^xsd:string) AnnotationAssertion( "ICD10CM:K09.8"^^xsd:string) AnnotationAssertion( "ICDO:9084/0"^^xsd:string) AnnotationAssertion( "MESH:D003884"^^xsd:string) AnnotationAssertion( "NCI:C9011"^^xsd:string) AnnotationAssertion( "Dermoid"^^xsd:string) AnnotationAssertion( "Dermoid Cysts"^^xsd:string) AnnotationAssertion( "Dermoids"^^xsd:string) AnnotationAssertion( "cystic dermoid choristoma"^^xsd:string) AnnotationAssertion( "dermoid choristoma"^^xsd:string) AnnotationAssertion( "dermoid tumour"^^xsd:string) AnnotationAssertion( "mature cystic teratoma"^^xsd:string) AnnotationAssertion( "teratoma, benign"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2658"^^xsd:string) AnnotationAssertion(rdfs:label "dermoid cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cystic teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23905455"^^xsd:string) "A benign teratoma that is characterized by the presence of cysts or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C9014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2660"^^xsd:string) AnnotationAssertion(rdfs:label "cystic teratoma"^^xsd:string) SubClassOf( ) # Class: (myoepithelioma) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/myoepithelioma"^^xsd:string) "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8982/0"^^xsd:string) AnnotationAssertion( "MESH:D009208"^^xsd:string) AnnotationAssertion( "NCI:C40392"^^xsd:string) AnnotationAssertion( "Myoepithelial Tumor"^^xsd:string) AnnotationAssertion( "Myoepithelial Tumors"^^xsd:string) AnnotationAssertion( "Myoepitheliomas"^^xsd:string) AnnotationAssertion( "benign myoepithelioma"^^xsd:string) AnnotationAssertion( "myoepithelial adenoma"^^xsd:string) AnnotationAssertion( "myoepithelial neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2661"^^xsd:string) AnnotationAssertion(rdfs:label "myoepithelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sweat gland benign neoplasm) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2664"^^xsd:string) AnnotationAssertion(rdfs:label "sweat gland benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mesenchymoma) AnnotationAssertion(Annotation( "MESH:D008637"^^xsd:string) "A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)"^^xsd:string) AnnotationAssertion( "EFO:1001042"^^xsd:string) AnnotationAssertion( "ICDO:8990/3"^^xsd:string) AnnotationAssertion( "MESH:D008637"^^xsd:string) AnnotationAssertion( "NCI:C3233"^^xsd:string) AnnotationAssertion( "RDO:0000961"^^xsd:string) AnnotationAssertion( "Mesenchymomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2668"^^xsd:string) AnnotationAssertion(rdfs:label "mesenchymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pacinian tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9507/0"^^xsd:string) AnnotationAssertion( "NCI:C4328"^^xsd:string) AnnotationAssertion( "Pacinian neurofibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2669"^^xsd:string) AnnotationAssertion(rdfs:label "Pacinian tumor"^^xsd:string) SubClassOf( ) # Class: (transitional papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006497"^^xsd:string) AnnotationAssertion( "NCI:C4115"^^xsd:string) AnnotationAssertion( "RDO:9003774"^^xsd:string) AnnotationAssertion( "transitional cell papilloma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:44342003"^^xsd:string) "transitional cell papilloma, benign"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2670"^^xsd:string) AnnotationAssertion(rdfs:label "transitional papilloma"^^xsd:string) SubClassOf( ) # Class: (transitional cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string) "A carcinoma that derives_from transitional epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001512"^^xsd:string) AnnotationAssertion( "EFO:0008528"^^xsd:string) AnnotationAssertion( "EFO:1000601"^^xsd:string) AnnotationAssertion( "GARD:7794"^^xsd:string) AnnotationAssertion( "ICDO:8120/3"^^xsd:string) AnnotationAssertion( "MESH:D002295"^^xsd:string) AnnotationAssertion( "NCI:C128126"^^xsd:string) AnnotationAssertion( "NCI:C2930"^^xsd:string) AnnotationAssertion( "NCI:C6783"^^xsd:string) AnnotationAssertion( "TCC"^^xsd:string) AnnotationAssertion( "transitional carcinoma"^^xsd:string) AnnotationAssertion( "transitional cell carcinomas"^^xsd:string) AnnotationAssertion( "transitional cell tumor"^^xsd:string) AnnotationAssertion( "urothelial carcinoma"^^xsd:string) AnnotationAssertion( "urothelial cell carcinoma"^^xsd:string) AnnotationAssertion( "invasive transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "transitional cell carcinoma of the bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "transitional cell neoplasm"^^xsd:string) AnnotationAssertion( "DOID:2671"^^xsd:string) AnnotationAssertion(rdfs:label "transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult cystic nephroma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27831959"^^xsd:string) "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000213"^^xsd:string) AnnotationAssertion( "NCI:C7504"^^xsd:string) AnnotationAssertion( "multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2673"^^xsd:string) AnnotationAssertion(rdfs:label "adult cystic nephroma"^^xsd:string) SubClassOf( ) # Class: (dysembryoplastic neuroepithelial tumor) AnnotationAssertion( "A rare brain tumor that occurs in children and is characterized by long-standing, intractable partial complex seizures."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005551"^^xsd:string) AnnotationAssertion( "GARD:10640"^^xsd:string) AnnotationAssertion( "ICDO:9413/0"^^xsd:string) AnnotationAssertion( "NCI:C9505"^^xsd:string) AnnotationAssertion( "DNET"^^xsd:string) AnnotationAssertion( "DNT"^^xsd:string) AnnotationAssertion( "dysembryoplastic neuroepithelial neoplasm"^^xsd:string) AnnotationAssertion( "dysembryoplastic neuroepithelial tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2679"^^xsd:string) AnnotationAssertion(rdfs:label "dysembryoplastic neuroepithelial tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (liver angiosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30093472"^^xsd:string) "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5813"^^xsd:string) AnnotationAssertion( "ICD10CM:C22.3"^^xsd:string) AnnotationAssertion( "NCI:C4438"^^xsd:string) AnnotationAssertion( "angiosarcoma of liver"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:268"^^xsd:string) AnnotationAssertion(rdfs:label "liver angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracystic papillary adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8504/0"^^xsd:string) AnnotationAssertion( "intracystic papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2682"^^xsd:string) AnnotationAssertion(rdfs:label "intracystic papillary adenoma"^^xsd:string) SubClassOf( ) # Class: (adenofibroma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68000232"^^xsd:string) "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000070"^^xsd:string) AnnotationAssertion( "ICDO:9013/0"^^xsd:string) AnnotationAssertion( "MESH:D000232"^^xsd:string) AnnotationAssertion( "adenofibromas"^^xsd:string) AnnotationAssertion( "fibroadenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2683"^^xsd:string) AnnotationAssertion(rdfs:label "adenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ossifying fibromyxoid tumor) AnnotationAssertion( "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000408"^^xsd:string) AnnotationAssertion( "ICDO:8842/0"^^xsd:string) AnnotationAssertion( "NCI:C6582"^^xsd:string) AnnotationAssertion( "ossifying fibromyxoid neoplasm"^^xsd:string) AnnotationAssertion( "ossifying fibromyxoid tumour"^^xsd:string) AnnotationAssertion( "ossifying fibromyxoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2685"^^xsd:string) AnnotationAssertion(rdfs:label "ossifying fibromyxoid tumor"^^xsd:string) SubClassOf( ) # Class: (skin sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21146736"^^xsd:string) "A sarcoma that is located_in the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000531"^^xsd:string) AnnotationAssertion( "NCI:C5585"^^xsd:string) AnnotationAssertion( "cutaneous sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2687"^^xsd:string) AnnotationAssertion(rdfs:label "skin sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphangiosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Lymphangiosarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9796078"^^xsd:string) "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000339"^^xsd:string) AnnotationAssertion( "ICDO:9170/3"^^xsd:string) AnnotationAssertion( "MESH:D008204"^^xsd:string) AnnotationAssertion( "NCI:C3205"^^xsd:string) AnnotationAssertion( "NCI:C4490"^^xsd:string) AnnotationAssertion( "Stewart-Treves syndrome"^^xsd:string) AnnotationAssertion( "lymphangiosarcomas"^^xsd:string) AnnotationAssertion( "malignant lymphangioendothelioma"^^xsd:string) AnnotationAssertion( "malignant lymphangioendotheliomas"^^xsd:string) AnnotationAssertion( "skin lymphangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2689"^^xsd:string) AnnotationAssertion(rdfs:label "lymphangiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29789793"^^xsd:string) "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D21"^^xsd:string) AnnotationAssertion( "ICDO:8895/0"^^xsd:string) AnnotationAssertion( "MESH:D009214"^^xsd:string) AnnotationAssertion( "NCI:C4882"^^xsd:string) AnnotationAssertion( "benign neoplasm of the muscle"^^xsd:string) AnnotationAssertion( "myomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2691"^^xsd:string) AnnotationAssertion(rdfs:label "myoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leydig cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Leydig_cell_tumour"^^xsd:string) "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000321"^^xsd:string) AnnotationAssertion( "EFO:1000423"^^xsd:string) AnnotationAssertion( "MESH:D007984"^^xsd:string) AnnotationAssertion( "NCI:C134947"^^xsd:string) AnnotationAssertion( "NCI:C3188"^^xsd:string) AnnotationAssertion( "NCI:C4213"^^xsd:string) AnnotationAssertion( "Leydig cell neoplasm"^^xsd:string) AnnotationAssertion( "interstitial cell tumor"^^xsd:string) AnnotationAssertion( "interstitial cell tumors"^^xsd:string) AnnotationAssertion( "Ovarian Leydig Cell Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2696"^^xsd:string) AnnotationAssertion(rdfs:label "Leydig cell tumor"^^xsd:string) SubClassOf( ) # Class: (renal adenoma) AnnotationAssertion( "NCI:C8383"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:41627005"^^xsd:string) "renal cell adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2697"^^xsd:string) AnnotationAssertion(rdfs:label "renal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic adenofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39812"^^xsd:string) AnnotationAssertion( "RDO:9005135"^^xsd:string) AnnotationAssertion( "metanephric adenofibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2698"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic adenofibroma"^^xsd:string) SubClassOf( ) # Class: (liver sarcoma) AnnotationAssertion(Annotation( "http://www.cancersupportivecare.com/liver.html"^^xsd:string) "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4437"^^xsd:string) AnnotationAssertion( "hepatic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:270"^^xsd:string) AnnotationAssertion(rdfs:label "liver sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinous adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/"^^xsd:string) "An adenofibroma that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9015/0"^^xsd:string) AnnotationAssertion( "NCI:C8978"^^xsd:string) AnnotationAssertion( "RDO:9005004"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2700"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous adenofibroma"^^xsd:string) SubClassOf( ) # Class: (nodular tenosynovitis) AnnotationAssertion( "NCI:C3829"^^xsd:string) AnnotationAssertion( "NCI:C6532"^^xsd:string) AnnotationAssertion( "benign synovioma"^^xsd:string) AnnotationAssertion( "benign tumor of synovium"^^xsd:string) AnnotationAssertion( "localized giant cell tumor of tenosynovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2701"^^xsd:string) AnnotationAssertion(rdfs:label "nodular tenosynovitis"^^xsd:string) SubClassOf( ) # Class: (pigmented villonodular synovitis) AnnotationAssertion(Annotation( "MESH:D013586"^^xsd:string) "Diffuse outgrowth arising from the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath around the joint cavity, with extension to surrounding soft tissue. It is characterized by pigmented HEMOSIDERIN-containing MACROPHAGES; FOAM CELLS; and multinucleated GIANT CELLS. It usually occurs in the hands and feet, and around large joints, such as in the ankle and knee joints."^^xsd:string) AnnotationAssertion( "EFO:1001106"^^xsd:string) AnnotationAssertion( "GARD:7396"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.2"^^xsd:string) AnnotationAssertion( "MESH:D013586"^^xsd:string) AnnotationAssertion( "NCI:C3401"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3401"^^xsd:string) "Diffuse Giant cell tumor of Tenosynovium"^^xsd:string) AnnotationAssertion( "Diffuse Tenosynovial Giant Cell Tumor"^^xsd:string) AnnotationAssertion( "Pigmented Villonodular Synovitides"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:71508003"^^xsd:string) "villous tenosynovitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2702"^^xsd:string) AnnotationAssertion(rdfs:label "pigmented villonodular synovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (synovitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Synovitis"^^xsd:string) "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008997"^^xsd:string) AnnotationAssertion( "GARD:7722"^^xsd:string) AnnotationAssertion( "MESH:D013585"^^xsd:string) AnnotationAssertion( "NCI:C50766"^^xsd:string) AnnotationAssertion( "Synovial Hypertrophy"^^xsd:string) AnnotationAssertion( "Synovial Thickening"^^xsd:string) AnnotationAssertion( "Synovial Thickenings"^^xsd:string) AnnotationAssertion( "synovial hypertrophies"^^xsd:string) AnnotationAssertion( "synovitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2703"^^xsd:string) AnnotationAssertion(rdfs:label "synovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant giant cell tumor of the tendon sheath) AnnotationAssertion( "NCI:C6535"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128778009"^^xsd:string) "Giant cell tumour of tendon sheath, malignant"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6535"^^xsd:string) "malignant Giant cell neoplasm of the Tendon Sheath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2704"^^xsd:string) AnnotationAssertion(rdfs:label "malignant giant cell tumor of the tendon sheath"^^xsd:string) SubClassOf( ) # Class: (malignant giant cell tumor) AnnotationAssertion( "NCI:C4090"^^xsd:string) AnnotationAssertion( "malignant giant cell neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor, giant cell type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2705"^^xsd:string) AnnotationAssertion(rdfs:label "malignant giant cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (synovium cancer) AnnotationAssertion( "NCI:C6531"^^xsd:string) AnnotationAssertion( "malignant tumor of synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2706"^^xsd:string) AnnotationAssertion(rdfs:label "synovium cancer"^^xsd:string) SubClassOf( ) # Class: (mushroom workers' lung) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf"^^xsd:string) "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007385"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.5"^^xsd:string) AnnotationAssertion( "ICD9CM:495.5"^^xsd:string) AnnotationAssertion( "RDO:9004047"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2708"^^xsd:string) AnnotationAssertion(rdfs:label "mushroom workers' lung"^^xsd:string) SubClassOf( ) # Class: (hemangioma of liver) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002404"^^xsd:string) AnnotationAssertion( "NCI:C3869"^^xsd:string) AnnotationAssertion( "angioma of liver"^^xsd:string) AnnotationAssertion( "hepatic angioma"^^xsd:string) AnnotationAssertion( "hepatic hemangioma"^^xsd:string) AnnotationAssertion( "liver angioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:271"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of liver"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sick building syndrome) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome"^^xsd:string) "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007484"^^xsd:string) AnnotationAssertion( "MESH:D018877"^^xsd:string) AnnotationAssertion( "sick house syndrome"^^xsd:string) AnnotationAssertion( "sick house syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2710"^^xsd:string) AnnotationAssertion(rdfs:label "sick building syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (phimosis) AnnotationAssertion(Annotation( "MESH:D010688"^^xsd:string) "A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening."^^xsd:string) AnnotationAssertion( "EFO:1001104"^^xsd:string) AnnotationAssertion( "ICD10CM:N47.1"^^xsd:string) AnnotationAssertion( "MESH:D010688"^^xsd:string) AnnotationAssertion( "NCI:C26852"^^xsd:string) AnnotationAssertion( "Phimoses"^^xsd:string) AnnotationAssertion( "tight foreskin"^^xsd:string) AnnotationAssertion( "tight frenulum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2712"^^xsd:string) AnnotationAssertion(rdfs:label "phimosis"^^xsd:string) SubClassOf( ) # Class: (Bloom syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/bloom-syndrome"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Bloom_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10823897"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9482582"^^xsd:string) "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:210900"^^xsd:string) AnnotationAssertion( "MESH:D001816"^^xsd:string) AnnotationAssertion( "NCI:C2903"^^xsd:string) AnnotationAssertion( "ORDO:125"^^xsd:string) AnnotationAssertion( "BLM"^^xsd:string) AnnotationAssertion( "BLS"^^xsd:string) AnnotationAssertion( "BS"^^xsd:string) AnnotationAssertion( "Bloom's syndrome"^^xsd:string) AnnotationAssertion( "Bloom-Torre-Machacek syndrome"^^xsd:string) AnnotationAssertion( "MGRISCE1"^^xsd:string) AnnotationAssertion( "congenital telangiectatic erythema"^^xsd:string) AnnotationAssertion( "congenital telangiectatic erythema syndrome"^^xsd:string) AnnotationAssertion( "microcephaly, growth restriction, and increased sister chromatid exchange 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DNA ligase I deficiency"^^xsd:string) AnnotationAssertion( "DOID:2717"^^xsd:string) AnnotationAssertion(rdfs:label "Bloom syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemopneumothorax) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemopneumothorax"^^xsd:string) "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000963"^^xsd:string) AnnotationAssertion( "ICD10CM:J94.2"^^xsd:string) AnnotationAssertion( "MESH:D006468"^^xsd:string) AnnotationAssertion( "haemopneumothorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2718"^^xsd:string) AnnotationAssertion(rdfs:label "hemopneumothorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic vascular disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21055687"^^xsd:string) "A vascular disease that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35442"^^xsd:string) AnnotationAssertion( "RDO:9002801"^^xsd:string) AnnotationAssertion( "vascular disorder of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:272"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic vascular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acrodermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrodermatitis"^^xsd:string) "A dermatitis that selectively affects the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002146"^^xsd:string) AnnotationAssertion( "EFO:1000664"^^xsd:string) AnnotationAssertion( "GARD:5722"^^xsd:string) AnnotationAssertion( "MESH:D000169"^^xsd:string) AnnotationAssertion( "NCI:C84532"^^xsd:string) AnnotationAssertion( "Acrodermatitis Papulosa Infantum"^^xsd:string) AnnotationAssertion( "Acropapulo Vesicular Syndrome"^^xsd:string) AnnotationAssertion( "Childhood Papular Acrodermatitis"^^xsd:string) AnnotationAssertion( "Erythemato Vesiculo Papulous Eruptive Syndrome"^^xsd:string) AnnotationAssertion( "Erythemato-Vesiculo-Papulous Eruptive Syndromes"^^xsd:string) AnnotationAssertion( "Gianotti Crosti Syndrome"^^xsd:string) AnnotationAssertion( "Infantile Papular Acrodermatitides"^^xsd:string) AnnotationAssertion( "Infantile Papular Acrodermatitis"^^xsd:string) AnnotationAssertion( "acrodermatitides"^^xsd:string) AnnotationAssertion( "acropapulo-vesicular syndromes"^^xsd:string) AnnotationAssertion( "childhood papular acrodermatitides"^^xsd:string) AnnotationAssertion( "papular acrodermatitis of childhood"^^xsd:string) AnnotationAssertion( "papulovesicular acrolocated syndrome"^^xsd:string) AnnotationAssertion( "papulovesicular acrolocated syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2722"^^xsd:string) AnnotationAssertion(rdfs:label "acrodermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatitis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/eczema.html"^^xsd:string) "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000636"^^xsd:string) AnnotationAssertion( "ICD10CM:L30.9"^^xsd:string) AnnotationAssertion( "MESH:D003872"^^xsd:string) AnnotationAssertion( "NCI:C2983"^^xsd:string) AnnotationAssertion( "dermatitides"^^xsd:string) AnnotationAssertion( "inflammatory skin disease"^^xsd:string) AnnotationAssertion( "skin inflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2723"^^xsd:string) AnnotationAssertion(rdfs:label "dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (capillary hemangioma) AnnotationAssertion(Annotation( "MESH:D018324"^^xsd:string) Annotation( "https://eyewiki.aao.org/Capillary_Hemangioma"^^xsd:string) "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.5"^^xsd:string) AnnotationAssertion( "ICDO:9131/0"^^xsd:string) AnnotationAssertion( "MESH:D018324"^^xsd:string) AnnotationAssertion( "NCI:C6645"^^xsd:string) AnnotationAssertion( "NCI:C7457"^^xsd:string) AnnotationAssertion( "Capillary haemangioma"^^xsd:string) AnnotationAssertion( "capillary hemangiomas"^^xsd:string) AnnotationAssertion( "cellular hemangioma of infancy"^^xsd:string) AnnotationAssertion( "congenital vascular hamartoma"^^xsd:string) AnnotationAssertion( "congenital vascular naevus"^^xsd:string) AnnotationAssertion( "infantile hemangioma"^^xsd:string) AnnotationAssertion( "juvenile hemangioma"^^xsd:string) AnnotationAssertion( "strawberry haemangioma"^^xsd:string) AnnotationAssertion( "strawberry nevus"^^xsd:string) AnnotationAssertion( "strawberry nevus of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2725"^^xsd:string) AnnotationAssertion(rdfs:comment "is_a: DOID:0060094"^^xsd:string) AnnotationAssertion(rdfs:label "capillary hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dyskeratosis congenita) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dyskeratosis_congenita"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita"^^xsd:string) "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0070025"^^xsd:string) AnnotationAssertion( "GARD:10905"^^xsd:string) AnnotationAssertion( "MESH:D019871"^^xsd:string) AnnotationAssertion( "MIM:PS127550"^^xsd:string) AnnotationAssertion( "NCI:C111802"^^xsd:string) AnnotationAssertion( "ORDO:1775"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2729"^^xsd:string) AnnotationAssertion(rdfs:label "dyskeratosis congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/epidermolysis-bullosa/"^^xsd:string) "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000690"^^xsd:string) AnnotationAssertion( "GARD:6359"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81"^^xsd:string) AnnotationAssertion( "ICD10CM:Q81.9"^^xsd:string) AnnotationAssertion( "MESH:D004820"^^xsd:string) AnnotationAssertion( "NCI:C67383"^^xsd:string) AnnotationAssertion( "acantholysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2730"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vesiculobullous skin disease) AnnotationAssertion(Annotation( "https://www.aafp.org/afp/2017/0601/p717.html"^^xsd:string) "A bullous skin disease that is characterized by fluid filled blisters. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000774"^^xsd:string) AnnotationAssertion( "MESH:D012872"^^xsd:string) AnnotationAssertion( "Vesicular Skin Disease"^^xsd:string) AnnotationAssertion( "Vesicular Skin Diseases"^^xsd:string) AnnotationAssertion( "Vesiculobullous Dermatoses"^^xsd:string) AnnotationAssertion( "vesiculobullous skin diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2731"^^xsd:string) AnnotationAssertion(rdfs:label "vesiculobullous skin disease"^^xsd:string) SubClassOf( ) # Class: (Rothmund-Thomson syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20113479/"^^xsd:string) "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4392"^^xsd:string) AnnotationAssertion( "MESH:D011038"^^xsd:string) AnnotationAssertion( "MIM:PS268400"^^xsd:string) AnnotationAssertion( "NCI:C3335"^^xsd:string) AnnotationAssertion( "RTS"^^xsd:string) AnnotationAssertion( "Rothmund-Thomson poikiloderma"^^xsd:string) AnnotationAssertion( "congenital poikiloderma"^^xsd:string) AnnotationAssertion( "poikiloderma congenitale"^^xsd:string) AnnotationAssertion( "poikiloderma congenitale of Rothmund-Thomson"^^xsd:string) AnnotationAssertion( "poikiloderma congenitales"^^xsd:string) AnnotationAssertion( "poikiloderma of Rothmund Thomson"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2732"^^xsd:string) AnnotationAssertion(rdfs:label "Rothmund-Thomson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (skin atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000766"^^xsd:string) AnnotationAssertion( "ICD10CM:L90"^^xsd:string) AnnotationAssertion( "ICD10CM:L90.9"^^xsd:string) AnnotationAssertion( "NCI:C35163"^^xsd:string) AnnotationAssertion( "atrophic condition of skin"^^xsd:string) AnnotationAssertion( "atrophoderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2733"^^xsd:string) AnnotationAssertion(rdfs:label "skin atrophy"^^xsd:string) SubClassOf( ) # Class: (keratosis follicularis) AnnotationAssertion(Annotation( "MESH:D007644"^^xsd:string) "An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES."^^xsd:string) AnnotationAssertion( "EFO:0004124"^^xsd:string) AnnotationAssertion( "ICD10CM:E50.8"^^xsd:string) AnnotationAssertion( "MESH:D007644"^^xsd:string) AnnotationAssertion( "MIM:124200"^^xsd:string) AnnotationAssertion( "MONDO:0007417"^^xsd:string) AnnotationAssertion( "NCI:C84665"^^xsd:string) AnnotationAssertion( "Acantholytic Dyskeratotic Epidermal Nevus"^^xsd:string) AnnotationAssertion( "DAR"^^xsd:string) AnnotationAssertion( "DD"^^xsd:string) AnnotationAssertion( "Darier disease"^^xsd:string) AnnotationAssertion( "Darier's Disease"^^xsd:string) AnnotationAssertion( "Darier-White disease"^^xsd:string) AnnotationAssertion( "Dariers Disease"^^xsd:string) AnnotationAssertion( "acantholytic dyskeratotic epidermal nevi"^^xsd:string) AnnotationAssertion( "DARIER DISEASE, ACRAL HEMORRHAGIC TYPE"^^xsd:string) AnnotationAssertion( "DARIER DISEASE, SEGMENTAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2734"^^xsd:string) AnnotationAssertion(rdfs:label "keratosis follicularis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hajdu-Cheney syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21378985"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21378989"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9714016"^^xsd:string) "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537586"^^xsd:string) AnnotationAssertion( "MIM:102500"^^xsd:string) AnnotationAssertion( "NOTCH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:508"^^xsd:string) AnnotationAssertion( "MESH:D031845"^^xsd:string) AnnotationAssertion( "NCI:C35545"^^xsd:string) AnnotationAssertion( "NCI:C84745"^^xsd:string) AnnotationAssertion( "Cheney syndrome"^^xsd:string) AnnotationAssertion( "HJCYS"^^xsd:string) AnnotationAssertion( "SFPKS"^^xsd:string) AnnotationAssertion( "acroosteolysis with osteoporosis and changes in skull and mandible"^^xsd:string) AnnotationAssertion( "arthrodentoosteodysplasia"^^xsd:string) AnnotationAssertion( "arthrodentoosteodysplasias"^^xsd:string) AnnotationAssertion( "multicentric osteolyses"^^xsd:string) AnnotationAssertion( "multicentric osteolysis"^^xsd:string) AnnotationAssertion( "serpentine fibula syndrome"^^xsd:string) AnnotationAssertion( "serpentine fibula-polycystic kidney syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2736"^^xsd:string) AnnotationAssertion(rdfs:label "Hajdu-Cheney syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pseudoxanthoma elasticum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract"^^xsd:string) "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:177850"^^xsd:string) AnnotationAssertion( "MIM:264800"^^xsd:string) AnnotationAssertion( "XYLT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:9643"^^xsd:string) AnnotationAssertion( "MESH:D011561"^^xsd:string) AnnotationAssertion( "NCI:C85036"^^xsd:string) AnnotationAssertion( "ORDO:758"^^xsd:string) AnnotationAssertion( "Groenblad-Strandberg syndrome"^^xsd:string) AnnotationAssertion( "Gronblad Strandberg Syndrome"^^xsd:string) AnnotationAssertion( "Incomplete Pseudoxanthoma Elasticum"^^xsd:string) AnnotationAssertion( "Incomplete Pseudoxanthoma Elasticums"^^xsd:string) AnnotationAssertion( "PXE"^^xsd:string) AnnotationAssertion( "Pseudoxanthoma Elasticum, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Pseudoxanthoma Elasticum, Forme Fruste"^^xsd:string) AnnotationAssertion( "PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PXE, MODIFIER OF SEVERITY OF"^^xsd:string) AnnotationAssertion( "pseudoxanthoma elasticum, modifier of severity of"^^xsd:string) AnnotationAssertion( "DOID:2738"^^xsd:string) AnnotationAssertion(rdfs:label "pseudoxanthoma elasticum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gilbert syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gilbert%27s_syndrome"^^xsd:string) "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:143500"^^xsd:string) AnnotationAssertion( "EFO:0005556"^^xsd:string) AnnotationAssertion( "GARD:6507"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.4"^^xsd:string) AnnotationAssertion( "MESH:D005878"^^xsd:string) AnnotationAssertion( "NCI:C84729"^^xsd:string) AnnotationAssertion( "Arias Type Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "Arias type hyperbilirubinemias"^^xsd:string) AnnotationAssertion( "Familial Nonhemolytic Jaundice"^^xsd:string) AnnotationAssertion( "Gilbert disease"^^xsd:string) AnnotationAssertion( "Gilbert's Disease"^^xsd:string) AnnotationAssertion( "Gilbert's Syndrome"^^xsd:string) AnnotationAssertion( "Gilbert-Lereboullet Syndrome"^^xsd:string) AnnotationAssertion( "Gilbert-Meulengracht syndrome"^^xsd:string) AnnotationAssertion( "Gilberts Disease"^^xsd:string) AnnotationAssertion( "Gilberts Syndrome"^^xsd:string) AnnotationAssertion( "HBLRG"^^xsd:string) AnnotationAssertion( "HYPERBILIRUBINEMIA, GILBERT TYPE"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemia 1"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemia I"^^xsd:string) AnnotationAssertion( "Meulengracht syndrome"^^xsd:string) AnnotationAssertion( "constitutional hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "constitutional liver dysfunction"^^xsd:string) AnnotationAssertion( "hereditary nonhemolytic jaundice"^^xsd:string) AnnotationAssertion( "unconjugated benign bilirubinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Gilbert Syndrome, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:2739"^^xsd:string) AnnotationAssertion(rdfs:label "Gilbert syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bilirubin metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia"^^xsd:string) "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006932"^^xsd:string) AnnotationAssertion( "MIM:PS237450"^^xsd:string) AnnotationAssertion( "NCI:C84761"^^xsd:string) AnnotationAssertion( "bilirubinemia"^^xsd:string) AnnotationAssertion( "bilirubinemias"^^xsd:string) AnnotationAssertion( "hyperbilirubinaemia"^^xsd:string) AnnotationAssertion( "hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "hyperbilirubinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2741"^^xsd:string) AnnotationAssertion(rdfs:label "bilirubin metabolic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (auditory system disease) AnnotationAssertion(Annotation( "https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false"^^xsd:string) "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001455"^^xsd:string) AnnotationAssertion( "ICD10CM:H93.9"^^xsd:string) AnnotationAssertion( "ICD9CM:388.9"^^xsd:string) AnnotationAssertion( "MESH:D004427"^^xsd:string) AnnotationAssertion( "NCI:C26757"^^xsd:string) AnnotationAssertion( "ear and mastoid disease"^^xsd:string) AnnotationAssertion( "ear disease"^^xsd:string) AnnotationAssertion( "ear diseases"^^xsd:string) AnnotationAssertion( "otologic disease"^^xsd:string) AnnotationAssertion( "otologic diseases"^^xsd:string) AnnotationAssertion( "otological disease"^^xsd:string) AnnotationAssertion( "otological diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2742"^^xsd:string) AnnotationAssertion(rdfs:label "auditory system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyeloureteritis cystica) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N28.85"^^xsd:string) AnnotationAssertion( "ICD9CM:590.3"^^xsd:string) AnnotationAssertion( "RDO:9004014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2743"^^xsd:string) AnnotationAssertion(rdfs:label "pyeloureteritis cystica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyelitis) AnnotationAssertion(Annotation( "MESH:D011702"^^xsd:string) "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed."^^xsd:string) AnnotationAssertion( "EFO:1001140"^^xsd:string) AnnotationAssertion( "MESH:D011702"^^xsd:string) AnnotationAssertion( "NCI:C34964"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2744"^^xsd:string) AnnotationAssertion(rdfs:label "pyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (narcissistic personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Narcissistic_personality_disorder"^^xsd:string) "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.81"^^xsd:string) AnnotationAssertion( "ICD9CM:301.81"^^xsd:string) AnnotationAssertion( "NCI:C92635"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2745"^^xsd:string) AnnotationAssertion(rdfs:label "narcissistic personality disorder"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease V) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/"^^xsd:string) "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:232600"^^xsd:string) AnnotationAssertion( "GARD:6528"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.04"^^xsd:string) AnnotationAssertion( "MESH:D006012"^^xsd:string) AnnotationAssertion( "NCI:C84738"^^xsd:string) AnnotationAssertion( "ORDO:368"^^xsd:string) AnnotationAssertion( "GSD V"^^xsd:string) AnnotationAssertion( "GSD5"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease Type 5"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 5"^^xsd:string) AnnotationAssertion( "McArdle Disease"^^xsd:string) AnnotationAssertion( "McArdle Type Glycogen Storage Disease"^^xsd:string) AnnotationAssertion( "McArdle syndromes"^^xsd:string) AnnotationAssertion( "McArdle's Disease"^^xsd:string) AnnotationAssertion( "McArdles Disease"^^xsd:string) AnnotationAssertion( "Mcardle Syndrome"^^xsd:string) AnnotationAssertion( "Muscle Glycogen Phosphorylase Deficiency"^^xsd:string) AnnotationAssertion( "Muscle Phosphorylase Deficiency"^^xsd:string) AnnotationAssertion( "Myophosphorylase deficiencies"^^xsd:string) AnnotationAssertion( "PYGM deficiencies"^^xsd:string) AnnotationAssertion( "PYGM deficiency"^^xsd:string) AnnotationAssertion( "glycogen storage disease type V"^^xsd:string) AnnotationAssertion( "glycogenosis 5"^^xsd:string) AnnotationAssertion( "muscle phosphorylase deficiencies"^^xsd:string) AnnotationAssertion( "myophosphorylase deficiency"^^xsd:string) AnnotationAssertion( "MCARDLE DISEASE, MILD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2746"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Glycogen_storage_disease"^^xsd:string) Annotation( "http://www.slideshare.net/anjupaed/glcogen-storage-disorders"^^xsd:string) "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.0"^^xsd:string) AnnotationAssertion( "ICD9CM:271.0"^^xsd:string) AnnotationAssertion( "MESH:D006008"^^xsd:string) AnnotationAssertion( "MIM:PS615895"^^xsd:string) AnnotationAssertion( "NCI:C61272"^^xsd:string) AnnotationAssertion( "glycogen storage diseases"^^xsd:string) AnnotationAssertion( "glycogenoses"^^xsd:string) AnnotationAssertion( "glycogenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2747"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease"^^xsd:string) SubClassOf( ) # Class: (glycogen storage disease III) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17047887/"^^xsd:string) "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9442"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.03"^^xsd:string) AnnotationAssertion( "MESH:D006010"^^xsd:string) AnnotationAssertion( "MIM:232400"^^xsd:string) AnnotationAssertion( "MONDO:0009291"^^xsd:string) AnnotationAssertion( "NCI:C84736"^^xsd:string) AnnotationAssertion( "ORDO:366"^^xsd:string) AnnotationAssertion( "AGL deficiency"^^xsd:string) AnnotationAssertion( "Amylo 1,6 Glucosidase Deficiency"^^xsd:string) AnnotationAssertion( "Cori Disease"^^xsd:string) AnnotationAssertion( "Cori's Disease"^^xsd:string) AnnotationAssertion( "Coris Disease"^^xsd:string) AnnotationAssertion( "Debrancher Deficiency"^^xsd:string) AnnotationAssertion( "Debrancher deficiencies"^^xsd:string) AnnotationAssertion( "Forbes Disease"^^xsd:string) AnnotationAssertion( "GSD3"^^xsd:string) AnnotationAssertion( "Glycogen Debrancher Deficiency"^^xsd:string) AnnotationAssertion( "Glycogen Debranching Enzyme Deficiency"^^xsd:string) AnnotationAssertion( "Glycogenosis 3"^^xsd:string) AnnotationAssertion( "amylo-1,6-glucosidase deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of debranching enzyme"^^xsd:string) AnnotationAssertion( "deficiency of dextrin"^^xsd:string) AnnotationAssertion( "glycogen debrancher deficiencies"^^xsd:string) AnnotationAssertion( "glycogen storage disease 3"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 3"^^xsd:string) AnnotationAssertion( "glycogen storage disease type III"^^xsd:string) AnnotationAssertion( "limit dextrinoses"^^xsd:string) AnnotationAssertion( "limit dextrinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2748"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease Ia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8211187/"^^xsd:string) "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007637"^^xsd:string) AnnotationAssertion( "MIM:232200"^^xsd:string) AnnotationAssertion( "OMIA:000418"^^xsd:string) AnnotationAssertion( "GARD:7864"^^xsd:string) AnnotationAssertion( "MESH:C538655"^^xsd:string) AnnotationAssertion( "NCI:C162398"^^xsd:string) AnnotationAssertion( "ORDO:79258"^^xsd:string) AnnotationAssertion( "GLUCOSE-6-PHOSPHATASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "GSD IA"^^xsd:string) AnnotationAssertion( "GSD1A"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 1A"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IA"^^xsd:string) AnnotationAssertion( "hepatorenal form of glycogen storage disease"^^xsd:string) AnnotationAssertion( "hepatorenal glycogenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2749"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease Ia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002414"^^xsd:string) AnnotationAssertion( "NCI:C5481"^^xsd:string) AnnotationAssertion( "angioma of stomach"^^xsd:string) AnnotationAssertion( "gastric angioma"^^xsd:string) AnnotationAssertion( "hemangioma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:275"^^xsd:string) AnnotationAssertion(rdfs:label "gastric hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease IV) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17915577/"^^xsd:string) "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:232500"^^xsd:string) AnnotationAssertion( "GBE1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GBE1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GARD:2520"^^xsd:string) AnnotationAssertion( "MESH:D006011"^^xsd:string) AnnotationAssertion( "NCI:C84737"^^xsd:string) AnnotationAssertion( "ORDO:367"^^xsd:string) AnnotationAssertion( "Andersen Disease"^^xsd:string) AnnotationAssertion( "Andersen's Disease"^^xsd:string) AnnotationAssertion( "Andersens Disease"^^xsd:string) AnnotationAssertion( "Brancher Deficiency"^^xsd:string) AnnotationAssertion( "Brancher deficiencies"^^xsd:string) AnnotationAssertion( "GBE1 deficiencies"^^xsd:string) AnnotationAssertion( "GBE1 deficiency"^^xsd:string) AnnotationAssertion( "GSD IV"^^xsd:string) AnnotationAssertion( "GSD due to glycogen branching enzyme deficiency"^^xsd:string) AnnotationAssertion( "GSD4"^^xsd:string) AnnotationAssertion( "Glycogen Branching Enzyme Deficiency"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 4"^^xsd:string) AnnotationAssertion( "amylopectinoses"^^xsd:string) AnnotationAssertion( "amylopectinosis"^^xsd:string) AnnotationAssertion( "brancher deficiency glycogenosis"^^xsd:string) AnnotationAssertion( "branching-transferase deficiency glycogenosis"^^xsd:string) AnnotationAssertion( "deficiency of 1,4-alpha-glucan branching enzyme"^^xsd:string) AnnotationAssertion( "glycogen storage disease due to glycogen branching enzyme deficiency"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 4"^^xsd:string) AnnotationAssertion( "glycogen storage disease type IV"^^xsd:string) AnnotationAssertion( "glycogenoses type IV"^^xsd:string) AnnotationAssertion( "glycogenosis 4"^^xsd:string) AnnotationAssertion( "glycogenosis IV"^^xsd:string) AnnotationAssertion( "glycogenosis type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2750"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease IV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease VIII) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2558039/"^^xsd:string) "A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000952"^^xsd:string) AnnotationAssertion( "MESH:D006015"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 8"^^xsd:string) AnnotationAssertion( "glycogen storage disease type VIII"^^xsd:string) AnnotationAssertion( "glycogenosis 8"^^xsd:string) AnnotationAssertion( "glycogenosis type VIII"^^xsd:string) AnnotationAssertion( "hepatic glycogen phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "hepatic phosphorylase kinase deficiency"^^xsd:string) AnnotationAssertion( "phosphorylase kinase deficiency of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2751"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease VIII"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II"^^xsd:string) "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5714"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.02"^^xsd:string) AnnotationAssertion( "MESH:D006009"^^xsd:string) AnnotationAssertion( "MIM:232300"^^xsd:string) AnnotationAssertion( "MONDO:0009290"^^xsd:string) AnnotationAssertion( "NCI:C84734"^^xsd:string) AnnotationAssertion( "OMIA:000419"^^xsd:string) AnnotationAssertion( "ORDO:365"^^xsd:string) AnnotationAssertion( "AMD"^^xsd:string) AnnotationAssertion( "Acid Maltase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Adult Glycogen Storage Disease Type II"^^xsd:string) AnnotationAssertion( "Alpha 1,4 Glucosidase Deficiency"^^xsd:string) AnnotationAssertion( "Alpha-Glucosidase Deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of Alpha Glucosidase"^^xsd:string) AnnotationAssertion( "GAA Deficiency"^^xsd:string) AnnotationAssertion( "GAA deficiencies"^^xsd:string) AnnotationAssertion( "GSD II"^^xsd:string) AnnotationAssertion( "GSD2"^^xsd:string) AnnotationAssertion( "Generalized Glycogenosis"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 2"^^xsd:string) AnnotationAssertion( "Glycogenosis 2"^^xsd:string) AnnotationAssertion( "Glycogenosis Type II"^^xsd:string) AnnotationAssertion( "Pompe disease"^^xsd:string) AnnotationAssertion( "Pompe's disease"^^xsd:string) AnnotationAssertion( "Pompes disease"^^xsd:string) AnnotationAssertion( "acid alpha-glucosidase deficiencies"^^xsd:string) AnnotationAssertion( "acid alpha-glucosidase deficiency"^^xsd:string) AnnotationAssertion( "acid maltase deficiencies"^^xsd:string) AnnotationAssertion( "acid maltase deficiency"^^xsd:string) AnnotationAssertion( "alpha-1,4-glucosidase deficiencies"^^xsd:string) AnnotationAssertion( "alpha-glucosidase deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of glucoamylase"^^xsd:string) AnnotationAssertion( "deficiency of maltase"^^xsd:string) AnnotationAssertion( "generalized glycogenoses"^^xsd:string) AnnotationAssertion( "glycogen storage disease type 2"^^xsd:string) AnnotationAssertion( "glycogen storage disease type II"^^xsd:string) AnnotationAssertion( "glycogenosis type 2"^^xsd:string) AnnotationAssertion( "lysosomal alpha-1,4-glucosidase deficiency"^^xsd:string) AnnotationAssertion( "lysosomal alpha-1,4-glucosidase deficiency disease"^^xsd:string) AnnotationAssertion( "glycogen storage disease II, adult form"^^xsd:string) AnnotationAssertion( "glycogen storage disease II, infantile form"^^xsd:string) AnnotationAssertion( "infantile glycogen storage disease type II"^^xsd:string) AnnotationAssertion( "juvenile glycogen storage disease type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2752"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glycogen storage disease VI) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25266922/"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract"^^xsd:string) "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:232700"^^xsd:string) AnnotationAssertion( "MESH:D006013"^^xsd:string) AnnotationAssertion( "NCI:C126875"^^xsd:string) AnnotationAssertion( "ORDO:369"^^xsd:string) AnnotationAssertion( "GSD VI"^^xsd:string) AnnotationAssertion( "GSD6"^^xsd:string) AnnotationAssertion( "Glycogen storage disease 6"^^xsd:string) AnnotationAssertion( "Glycogenosis Type VI"^^xsd:string) AnnotationAssertion( "Her Disease"^^xsd:string) AnnotationAssertion( "Hers Disease"^^xsd:string) AnnotationAssertion( "PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER"^^xsd:string) AnnotationAssertion( "glycogen storage disease type VI"^^xsd:string) AnnotationAssertion( "glycogenosis 6"^^xsd:string) AnnotationAssertion( "glycogenosis VI"^^xsd:string) AnnotationAssertion( "hepatic glycogen phosphorylase deficiency"^^xsd:string) AnnotationAssertion( "hepatophosphorylase deficiency glycogenosis"^^xsd:string) AnnotationAssertion( "liver phosphorylase deficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2754"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen storage disease VI"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mycobacterium avium complex disease) AnnotationAssertion(Annotation( "https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35400550/"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007386"^^xsd:string) AnnotationAssertion( "GARD:7123"^^xsd:string) AnnotationAssertion( "MESH:D015270"^^xsd:string) AnnotationAssertion( "NCI:C36197"^^xsd:string) AnnotationAssertion( "Infection due to Mycobacterium intracellulare"^^xsd:string) AnnotationAssertion( "MAC disease"^^xsd:string) AnnotationAssertion( "Mycobacterium Avium-Intracellulare Infection"^^xsd:string) AnnotationAssertion( "Mycobacterium avium complex"^^xsd:string) AnnotationAssertion( "Mycobacterium avium infection"^^xsd:string) AnnotationAssertion( "Mycobacterium avium-intracellulare Infections"^^xsd:string) AnnotationAssertion( "Mycobacterium intracellulare Infection"^^xsd:string) AnnotationAssertion( "Mycobacterium intracellulare Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2755"^^xsd:string) AnnotationAssertion(rdfs:label "Mycobacterium avium complex disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36082"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2762"^^xsd:string) AnnotationAssertion(rdfs:label "bone carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ethmoid sinus squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/"^^xsd:string) "A squamous cell carcinoma that is located_in the ethmoid sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6065"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the ethmoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2763"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ethmoid sinus adenoid cystic carcinoma) AnnotationAssertion( "EFO:1000246"^^xsd:string) AnnotationAssertion( "NCI:C6238"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of ethmoid sinus"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of the ethmoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2764"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (ethmoid sinus adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An ethmoid sinus cancer that derives from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6237"^^xsd:string) AnnotationAssertion( "adenocarcinoma of ethmoid sinus"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6237"^^xsd:string) "adenocarcinoma of the ethmoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2766"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient tic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tic_disorder"^^xsd:string) "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F95.0"^^xsd:string) AnnotationAssertion( "ICD9CM:307.21"^^xsd:string) AnnotationAssertion( "NCI:C116767"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2768"^^xsd:string) AnnotationAssertion(rdfs:label "transient tic disorder"^^xsd:string) SubClassOf( ) # Class: (tic disorder) AnnotationAssertion(Annotation( "http://www.tsa-usa.org/Medical/definitions.html"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/tourette/diagnosis.html"^^xsd:string) "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F95"^^xsd:string) AnnotationAssertion( "ICD9CM:307.20"^^xsd:string) AnnotationAssertion( "MESH:D013981"^^xsd:string) AnnotationAssertion( "Childhood Tic Disorder"^^xsd:string) AnnotationAssertion( "Motor Tic Disorder"^^xsd:string) AnnotationAssertion( "Motor Tic Disorders"^^xsd:string) AnnotationAssertion( "PHONIC TICS"^^xsd:string) AnnotationAssertion( "Post Traumatic Tic Disorder"^^xsd:string) AnnotationAssertion( "Post-Traumatic Tic Disorders"^^xsd:string) AnnotationAssertion( "Vocal Tic Disorder"^^xsd:string) AnnotationAssertion( "childhood tic disorders"^^xsd:string) AnnotationAssertion( "tic disorders"^^xsd:string) AnnotationAssertion( "vocal tic disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2769"^^xsd:string) AnnotationAssertion(rdfs:label "tic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chorioangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000480"^^xsd:string) AnnotationAssertion( "NCI:C4868"^^xsd:string) AnnotationAssertion( "chorioangiomas"^^xsd:string) AnnotationAssertion( "placental hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:277"^^xsd:string) AnnotationAssertion(rdfs:label "chorioangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (irritant dermatitis) AnnotationAssertion(Annotation( "https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/"^^xsd:string) "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000718"^^xsd:string) AnnotationAssertion( "ICD10CM:L24"^^xsd:string) AnnotationAssertion( "ICD10CM:L24.9"^^xsd:string) AnnotationAssertion( "MESH:D017453"^^xsd:string) AnnotationAssertion( "NCI:C27151"^^xsd:string) AnnotationAssertion( "irritant contact dermatitis"^^xsd:string) AnnotationAssertion( "irritant dermatitides"^^xsd:string) AnnotationAssertion( "primary irritant dermatitides"^^xsd:string) AnnotationAssertion( "primary irritant dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2772"^^xsd:string) AnnotationAssertion(rdfs:label "irritant dermatitis"^^xsd:string) SubClassOf( ) # Class: (contact dermatitis) AnnotationAssertion(Annotation( "MESH:D003877"^^xsd:string) "A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms."^^xsd:string) AnnotationAssertion( "skin reaction"^^xsd:string) AnnotationAssertion( "EFO:0005319"^^xsd:string) AnnotationAssertion( "EFO:0020927"^^xsd:string) AnnotationAssertion( "ICD10CM:L25"^^xsd:string) AnnotationAssertion( "ICD10CM:L25.9"^^xsd:string) AnnotationAssertion( "MESH:D003877"^^xsd:string) AnnotationAssertion( "NCI:C26743"^^xsd:string) AnnotationAssertion( "Contact Eczema"^^xsd:string) AnnotationAssertion( "Contact Hypersensitivity"^^xsd:string) AnnotationAssertion( "Contact Sensitivities"^^xsd:string) AnnotationAssertion( "contact dermatitides"^^xsd:string) AnnotationAssertion( "contact dermatitis/eczema"^^xsd:string) AnnotationAssertion( "contact hypersensitivities"^^xsd:string) AnnotationAssertion( "contact sensitivity"^^xsd:string) AnnotationAssertion( "dermatitis venenata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2773"^^xsd:string) AnnotationAssertion(rdfs:label "contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (long bone adamantinoma) AnnotationAssertion(Annotation( "http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html"^^xsd:string) "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:102660"^^xsd:string) AnnotationAssertion( "adamantinoma of long bone"^^xsd:string) AnnotationAssertion( "adamantinoma of long bones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2775"^^xsd:string) AnnotationAssertion(rdfs:label "long bone adamantinoma"^^xsd:string) SubClassOf( ) # Class: (adamantinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30844202"^^xsd:string) "A bone cancer that is located_in almost exclusively in the long bones. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D050398"^^xsd:string) AnnotationAssertion( "NCI:C7644"^^xsd:string) AnnotationAssertion( "ORDO:55881"^^xsd:string) AnnotationAssertion( "adamantinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2776"^^xsd:string) AnnotationAssertion(rdfs:label "adamantinoma"^^xsd:string) SubClassOf( ) # Class: (rectosigmoid junction neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4877"^^xsd:string) AnnotationAssertion( "neoplasm of rectosigmoid junction"^^xsd:string) AnnotationAssertion( "rectosigmoid neoplasm"^^xsd:string) AnnotationAssertion( "rectosigmoid tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2780"^^xsd:string) AnnotationAssertion(rdfs:label "rectosigmoid junction neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectosigmoid cancer) AnnotationAssertion( "EFO:1001966"^^xsd:string) AnnotationAssertion( "NCI:C7421"^^xsd:string) AnnotationAssertion( "malignant neoplasm of rectosigmoid"^^xsd:string) AnnotationAssertion( "malignant rectosigmoid tumor"^^xsd:string) AnnotationAssertion( "rectosigmoid adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2781"^^xsd:string) AnnotationAssertion(rdfs:label "rectosigmoid cancer"^^xsd:string) SubClassOf( ) # Class: (rectosigmoid junction cancer) AnnotationAssertion( "ICD10CM:C19"^^xsd:string) AnnotationAssertion( "ICD9CM:154.0"^^xsd:string) AnnotationAssertion( "NCI:C7420"^^xsd:string) AnnotationAssertion( "malignant neoplasm of rectosigmoid junction"^^xsd:string) AnnotationAssertion( "malignant tumor of rectosigmoid junction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2782"^^xsd:string) AnnotationAssertion(rdfs:label "rectosigmoid junction cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung sarcoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma"^^xsd:string) "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4860"^^xsd:string) AnnotationAssertion( "pulmonary sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2784"^^xsd:string) AnnotationAssertion(rdfs:label "lung sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dandy-Walker syndrome) AnnotationAssertion(Annotation( "http://omim.org/entry/220200"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Dandy-Walker_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/dandy-walker-malformation"^^xsd:string) "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. (DO)"^^xsd:string) AnnotationAssertion( "MIM:220200"^^xsd:string) AnnotationAssertion( "EFO:1000890"^^xsd:string) AnnotationAssertion( "GARD:6242"^^xsd:string) AnnotationAssertion( "ICD10CM:Q03.1"^^xsd:string) AnnotationAssertion( "MESH:D003616"^^xsd:string) AnnotationAssertion( "NCI:C75012"^^xsd:string) AnnotationAssertion( "DWS"^^xsd:string) AnnotationAssertion( "Dandy-Walker Deformities"^^xsd:string) AnnotationAssertion( "Dandy-Walker Deformity"^^xsd:string) AnnotationAssertion( "Dandy-Walker complex"^^xsd:string) AnnotationAssertion( "Dandy-Walker complices"^^xsd:string) AnnotationAssertion( "Familial Dandy-Walker Syndrome"^^xsd:string) AnnotationAssertion( "Luschka-Magendie foramina atresia"^^xsd:string) AnnotationAssertion( "atresia of foramina of Magendie and Luschka"^^xsd:string) AnnotationAssertion( "internal hydrocephalus, Dandy-Walker type"^^xsd:string) AnnotationAssertion( "noncommunicating hydrocephalus, Dandy-Walker Type"^^xsd:string) AnnotationAssertion( "DANDY-WALKER MALFORMATION"^^xsd:string) AnnotationAssertion( "DWM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2785"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy-Walker syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebellar disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebellum"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15377747"^^xsd:string) "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002526"^^xsd:string) AnnotationAssertion( "Cerebellar Disorder"^^xsd:string) AnnotationAssertion( "Cerebellar Dysfunction"^^xsd:string) AnnotationAssertion( "Cerebellar Dysfunctions"^^xsd:string) AnnotationAssertion( "Cerebellar Syndrome"^^xsd:string) AnnotationAssertion( "Cerebellar Syndromes"^^xsd:string) AnnotationAssertion( "Cerebellum Disease"^^xsd:string) AnnotationAssertion( "cerebellar diseases"^^xsd:string) AnnotationAssertion( "cerebellar disorders"^^xsd:string) AnnotationAssertion( "cerebellum diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2786"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar disease"^^xsd:string) SubClassOf( ) # Class: (parasitic protozoa infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Protozoan"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Protozoan_infection"^^xsd:string) "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B64"^^xsd:string) AnnotationAssertion( "MESH:D011528"^^xsd:string) AnnotationAssertion( "NCI:C34953"^^xsd:string) AnnotationAssertion( "Histomoniasis"^^xsd:string) AnnotationAssertion( "Protozoan Infection"^^xsd:string) AnnotationAssertion( "histomoniases"^^xsd:string) AnnotationAssertion( "mastigophora infectious disease"^^xsd:string) AnnotationAssertion( "protozoan infections"^^xsd:string) AnnotationAssertion( "sarcomastigophora infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2789"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic protozoa infectious disease"^^xsd:string) SubClassOf( ) # Class: (necatoriasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Necator_americanus"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007390"^^xsd:string) AnnotationAssertion( "ICD10CM:B76.1"^^xsd:string) AnnotationAssertion( "MESH:D009332"^^xsd:string) AnnotationAssertion( "NCI:C34838"^^xsd:string) AnnotationAssertion( "necatoriases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2790"^^xsd:string) AnnotationAssertion(rdfs:label "necatoriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic interstitial pneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string) "A pneumonia located_in the lung parenchyma of unknown cause. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.11"^^xsd:string) AnnotationAssertion( "MESH:D054988"^^xsd:string) AnnotationAssertion( "diffuse idiopathic pulmonary fibrosis"^^xsd:string) AnnotationAssertion( "idiopathic fibrosing alveolitis"^^xsd:string) AnnotationAssertion( "idiopathic interstitial pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2797"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic interstitial pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchiolitis obliterans) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans"^^xsd:string) "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007183"^^xsd:string) AnnotationAssertion( "GARD:9551"^^xsd:string) AnnotationAssertion( "MESH:D001989"^^xsd:string) AnnotationAssertion( "NCI:C62580"^^xsd:string) AnnotationAssertion( "Constrictive Bronchiolitides"^^xsd:string) AnnotationAssertion( "Constrictive Bronchiolitis"^^xsd:string) AnnotationAssertion( "Exudative Bronchiolitides"^^xsd:string) AnnotationAssertion( "Exudative Bronchiolitis"^^xsd:string) AnnotationAssertion( "Obliterative Bronchiolitis"^^xsd:string) AnnotationAssertion( "Proliferative Bronchiolitides"^^xsd:string) AnnotationAssertion( "Proliferative Bronchiolitis"^^xsd:string) AnnotationAssertion( "bronchiolitis exudativa"^^xsd:string) AnnotationAssertion( "bronchiolitis fibrosa obliterans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2799"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiolitis obliterans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocrine system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endocrine_system"^^xsd:string) "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001379"^^xsd:string) AnnotationAssertion( "ICD10CM:E34.9"^^xsd:string) AnnotationAssertion( "ICD9CM:259.9"^^xsd:string) AnnotationAssertion( "MESH:D004700"^^xsd:string) AnnotationAssertion( "NCI:C3009"^^xsd:string) AnnotationAssertion( "DISORDER OF ENDOCRINE SYSTEM"^^xsd:string) AnnotationAssertion( "diseases of endocrine system"^^xsd:string) AnnotationAssertion( "endocrine disease"^^xsd:string) AnnotationAssertion( "endocrine diseases"^^xsd:string) AnnotationAssertion( "endocrine system diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:28"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "endocrine system disease"^^xsd:string) SubClassOf( ) # Class: (acute interstitial pneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11790668"^^xsd:string) "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12835"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.114"^^xsd:string) AnnotationAssertion( "ICD9CM:516.33"^^xsd:string) AnnotationAssertion( "MESH:D000080203"^^xsd:string) AnnotationAssertion( "NCI:C35806"^^xsd:string) AnnotationAssertion( "ORDO:79126"^^xsd:string) AnnotationAssertion( "AIP"^^xsd:string) AnnotationAssertion( "Hamman-Rich disease"^^xsd:string) AnnotationAssertion( "Hamman-Rich syndrome"^^xsd:string) AnnotationAssertion( "accelerated interstitial pneumonia"^^xsd:string) AnnotationAssertion( "acute interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "idiopathic pulmonary fibrosis, acute fatal form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2800"^^xsd:string) AnnotationAssertion(rdfs:label "acute interstitial pneumonia"^^xsd:string) SubClassOf( ) # Class: (nonspecific interstitial pneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh"^^xsd:string) "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35717"^^xsd:string) AnnotationAssertion( "RDO:9002147"^^xsd:string) AnnotationAssertion( "NSIP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2801"^^xsd:string) AnnotationAssertion(rdfs:label "nonspecific interstitial pneumonia"^^xsd:string) SubClassOf( ) # Class: (middle lobe syndrome) AnnotationAssertion(Annotation( "http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf"^^xsd:string) "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007367"^^xsd:string) AnnotationAssertion( "MESH:D008878"^^xsd:string) AnnotationAssertion( "Brock Syndrome"^^xsd:string) AnnotationAssertion( "Brock's syndrome"^^xsd:string) AnnotationAssertion( "Brocks Syndrome"^^xsd:string) AnnotationAssertion( "middle lobe syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2810"^^xsd:string) AnnotationAssertion(rdfs:label "middle lobe syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant neoplasm of acoustic nerve) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C72.4"^^xsd:string) AnnotationAssertion( "NCI:C4539"^^xsd:string) AnnotationAssertion( "RDO:9005025"^^xsd:string) AnnotationAssertion( "malignant tumor of acoustic vestibular nerve"^^xsd:string) AnnotationAssertion( "malignant tumor of the vestibulocochlear nerve"^^xsd:string) AnnotationAssertion( "malignant tumour of acoustic vestibular nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2814"^^xsd:string) AnnotationAssertion(rdfs:label "malignant neoplasm of acoustic nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cranial nerve malignant neoplasm) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15"^^xsd:string) "A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:338"^^xsd:string) AnnotationAssertion( "EFO:1000884"^^xsd:string) AnnotationAssertion( "ICD10CM:C72.50"^^xsd:string) AnnotationAssertion( "ICD9CM:192.0"^^xsd:string) AnnotationAssertion( "NCI:C2963"^^xsd:string) AnnotationAssertion( "NCI:C3571"^^xsd:string) AnnotationAssertion( "malignant cranial nerve neoplasms"^^xsd:string) AnnotationAssertion( "malignant cranial nerve tumors"^^xsd:string) AnnotationAssertion( "malignant neoplasm of cranial nerve"^^xsd:string) AnnotationAssertion( "malignant neoplasm of cranial nerves"^^xsd:string) AnnotationAssertion( "malignant tumor of cranial nerve"^^xsd:string) AnnotationAssertion( "malignant tumor of the cranial nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2815"^^xsd:string) AnnotationAssertion(rdfs:label "cranial nerve malignant neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant oculomotor nerve tumor) AnnotationAssertion( "NCI:C6995"^^xsd:string) AnnotationAssertion( "IIIrd Cranial nerve neoplasm, malignant"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of oculomotor nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2816"^^xsd:string) AnnotationAssertion(rdfs:label "malignant oculomotor nerve tumor"^^xsd:string) SubClassOf( ) # Class: (cranial nerve III tumor) AnnotationAssertion( "A benign or malignant neoplasm involving the oculomotor nerve. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-17T16:02:35Z"^^xsd:string) AnnotationAssertion( "NCI:C6994"^^xsd:string) AnnotationAssertion( "cranial nerve III tumour"^^xsd:string) AnnotationAssertion( "neoplasm of oculomotor nerve"^^xsd:string) AnnotationAssertion( "oculomotor nerve tumor"^^xsd:string) AnnotationAssertion( "oculomotor nerve tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2817"^^xsd:string) AnnotationAssertion(rdfs:label "cranial nerve III tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nose disease) AnnotationAssertion(Annotation( "MESH:D009668"^^xsd:string) "Disorders of the nose, general or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D009668"^^xsd:string) AnnotationAssertion( "MONDO:0002436"^^xsd:string) AnnotationAssertion( "Nasal Diseases"^^xsd:string) AnnotationAssertion( "Nasal Disorder"^^xsd:string) AnnotationAssertion( "disorder of the nose"^^xsd:string) AnnotationAssertion( "nasal disease"^^xsd:string) AnnotationAssertion( "nasal disorders"^^xsd:string) AnnotationAssertion( "nose diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2825"^^xsd:string) AnnotationAssertion(rdfs:label "nose disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acalculous cholecystitis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30487697/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34657038/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/"^^xsd:string) "A cholecystitis characterized by the absence of gallstones. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000790"^^xsd:string) AnnotationAssertion( "MESH:D042101"^^xsd:string) AnnotationAssertion( "NCI:C35578"^^xsd:string) AnnotationAssertion( "Acalculous Gallbladder Inflammation"^^xsd:string) AnnotationAssertion( "acute acalculous cholecystitis"^^xsd:string) AnnotationAssertion( "acute cholecystitis without calculus"^^xsd:string) AnnotationAssertion( "cholecystitis without calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2828"^^xsd:string) AnnotationAssertion(rdfs:label "acalculous cholecystitis"^^xsd:string) SubClassOf( ) # Class: (geotrichosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35018329/"^^xsd:string) "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007284"^^xsd:string) AnnotationAssertion( "ICD10CM:B48.3"^^xsd:string) AnnotationAssertion( "MESH:D005847"^^xsd:string) AnnotationAssertion( "geotrichoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2832"^^xsd:string) AnnotationAssertion(rdfs:label "geotrichosis"^^xsd:string) SubClassOf( ) # Class: (dehydration polycythemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27310"^^xsd:string) AnnotationAssertion( "RDO:9002584"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2833"^^xsd:string) AnnotationAssertion(rdfs:label "dehydration polycythemia"^^xsd:string) SubClassOf( ) # Class: (acquired polycythemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:289.0"^^xsd:string) AnnotationAssertion( "NCI:C27178"^^xsd:string) AnnotationAssertion( "secondary polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2834"^^xsd:string) AnnotationAssertion(rdfs:label "acquired polycythemia"^^xsd:string) SubClassOf( ) # Class: (polycythemia due to hypoxia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005805"^^xsd:string) AnnotationAssertion( "NCI:C27312"^^xsd:string) AnnotationAssertion( "RDO:9002586"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2835"^^xsd:string) AnnotationAssertion(rdfs:label "polycythemia due to hypoxia"^^xsd:string) SubClassOf( ) # Class: (stress polycythemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.1"^^xsd:string) AnnotationAssertion( "NCI:C27174"^^xsd:string) AnnotationAssertion( "Gaisbock's syndrome"^^xsd:string) AnnotationAssertion( "emotional polycythemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2838"^^xsd:string) AnnotationAssertion(rdfs:label "stress polycythemia"^^xsd:string) SubClassOf( ) # Class: (erythropoietin polycythemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35434"^^xsd:string) AnnotationAssertion( "nephrogenous polycythemia"^^xsd:string) AnnotationAssertion( "polycythaemia due to excess erythropoetin production"^^xsd:string) AnnotationAssertion( "polycythemia due to excess erythopoetin production"^^xsd:string) AnnotationAssertion( "secondary polycythemia with excess erythropoietin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2839"^^xsd:string) AnnotationAssertion(rdfs:label "erythropoietin polycythemia"^^xsd:string) SubClassOf( ) # Class: (asthma) AnnotationAssertion(Annotation( "http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK430901/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK7223/"^^xsd:string) "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600807"^^xsd:string) AnnotationAssertion( "MIM:601690"^^xsd:string) AnnotationAssertion( "MIM:607277"^^xsd:string) AnnotationAssertion( "MIM:608584"^^xsd:string) AnnotationAssertion( "MIM:609958"^^xsd:string) AnnotationAssertion( "MIM:610906"^^xsd:string) AnnotationAssertion( "MIM:611064"^^xsd:string) AnnotationAssertion( "MIM:611403"^^xsd:string) AnnotationAssertion( "MIM:611960"^^xsd:string) AnnotationAssertion( "MIM:613207"^^xsd:string) AnnotationAssertion( "EFO:0000270"^^xsd:string) AnnotationAssertion( "EFO:0005414"^^xsd:string) AnnotationAssertion( "EFO:1002011"^^xsd:string) AnnotationAssertion( "GARD:10246"^^xsd:string) AnnotationAssertion( "ICD10CM:J45"^^xsd:string) AnnotationAssertion( "ICD9CM:493"^^xsd:string) AnnotationAssertion( "MESH:D001249"^^xsd:string) AnnotationAssertion( "MONDO:0004979"^^xsd:string) AnnotationAssertion( "NCI:C28397"^^xsd:string) AnnotationAssertion( "AS1"^^xsd:string) AnnotationAssertion( "asthmas"^^xsd:string) AnnotationAssertion( "bronchial asthma"^^xsd:string) AnnotationAssertion( "ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN"^^xsd:string) AnnotationAssertion( "adult onset asthma"^^xsd:string) AnnotationAssertion( "airway hyperresponsiveness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ASRT1"^^xsd:string) AnnotationAssertion( "ASRT2"^^xsd:string) AnnotationAssertion( "ASRT3"^^xsd:string) AnnotationAssertion( "ASRT4"^^xsd:string) AnnotationAssertion( "ASRT5"^^xsd:string) AnnotationAssertion( "ASRT6"^^xsd:string) AnnotationAssertion( "ASRT7"^^xsd:string) AnnotationAssertion( "ASRT8"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 5"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 6"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 7"^^xsd:string) AnnotationAssertion( "Asthma-Related Traits, Susceptibility To, 8"^^xsd:string) AnnotationAssertion( "allergic airway inflammation"^^xsd:string) AnnotationAssertion( "asthma and allergic rhinitis, susceptibility to"^^xsd:string) AnnotationAssertion( "asthma and atopy, susceptibility to"^^xsd:string) AnnotationAssertion( "asthma, protection against"^^xsd:string) AnnotationAssertion( "asthma, susceptibility to"^^xsd:string) AnnotationAssertion( "asthma-traits, susceptibility to asthma, protection against"^^xsd:string) AnnotationAssertion( "beta-2-adrenoreceptor agonist, reduced response to"^^xsd:string) AnnotationAssertion( "childhood athma, susceptibility to"^^xsd:string) AnnotationAssertion( "rhinoconjunctivitis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:2841"^^xsd:string) AnnotationAssertion(rdfs:label "asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Jervell-Lange Nielsen syndrome) AnnotationAssertion(Annotation( "MESH:D029593"^^xsd:string) "A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2)."^^xsd:string) AnnotationAssertion( "MIM:220400"^^xsd:string) AnnotationAssertion( "RDO:0007475"^^xsd:string) AnnotationAssertion( "EFO:0004689"^^xsd:string) AnnotationAssertion( "GARD:3048"^^xsd:string) AnnotationAssertion( "MESH:D029593"^^xsd:string) AnnotationAssertion( "MIM:PS220400"^^xsd:string) AnnotationAssertion( "MONDO:0002441"^^xsd:string) AnnotationAssertion( "NCI:C84793"^^xsd:string) AnnotationAssertion( "Cardio-Auditory-Syncope Syndrome"^^xsd:string) AnnotationAssertion( "Cardioauditory Syndrome of Jervell and Lange Nielsen"^^xsd:string) AnnotationAssertion( "Deafness, Congenital, and Functional Heart Disease"^^xsd:string) AnnotationAssertion( "JLNS1"^^xsd:string) AnnotationAssertion( "Jervell And Lange-Nielsen Syndrome 1"^^xsd:string) AnnotationAssertion( "Jervell and Lange Nielsen Syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:373905003"^^xsd:string) "Jervell and Lange-Nielson syndrome"^^xsd:string) AnnotationAssertion( "Prolonged QT Interval in EKG and Sudden Death"^^xsd:string) AnnotationAssertion( "Surdo Cardiac Syndrome"^^xsd:string) AnnotationAssertion( "Surdo-Cardiac Syndromes"^^xsd:string) AnnotationAssertion( "KCNQ1-related Jervell and Lange-Nielsen syndrome"^^xsd:string) AnnotationAssertion( "KCNQ1-related acquired long QT syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2842"^^xsd:string) AnnotationAssertion(rdfs:label "Jervell-Lange Nielsen syndrome"^^xsd:string) SubClassOf( ) # Class: (long QT syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Long_QT_syndrome"^^xsd:string) "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005138"^^xsd:string) AnnotationAssertion( "GARD:6922"^^xsd:string) AnnotationAssertion( "ICD10CM:I45.81"^^xsd:string) AnnotationAssertion( "ICD9CM:426.82"^^xsd:string) AnnotationAssertion( "MESH:D008133"^^xsd:string) AnnotationAssertion( "MIM:PS192500"^^xsd:string) AnnotationAssertion( "MONDO:0019171"^^xsd:string) AnnotationAssertion( "NCI:C34786"^^xsd:string) AnnotationAssertion( "NCI:C85049"^^xsd:string) AnnotationAssertion( "ORDO:768"^^xsd:string) AnnotationAssertion( "LQT"^^xsd:string) AnnotationAssertion( "PROLONGED QT INTERVAL"^^xsd:string) AnnotationAssertion( "long Q-T syndrome"^^xsd:string) AnnotationAssertion( "acquired long QT syndrome"^^xsd:string) AnnotationAssertion( "congenital long QT syndrome"^^xsd:string) AnnotationAssertion( "long QT syndrome, drug-associated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "long QT interval, drug induced, association with"^^xsd:string) AnnotationAssertion( "DOID:2843"^^xsd:string) AnnotationAssertion(rdfs:label "long QT syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bruxism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bruxism"^^xsd:string) "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F45.8"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.63"^^xsd:string) AnnotationAssertion( "ICD9CM:327.53"^^xsd:string) AnnotationAssertion( "MESH:D002012"^^xsd:string) AnnotationAssertion( "NCI:C73511"^^xsd:string) AnnotationAssertion( "bruxism - teeth grinding"^^xsd:string) AnnotationAssertion( "teeth grinding"^^xsd:string) AnnotationAssertion( "teeth grinding disorder"^^xsd:string) AnnotationAssertion( "teeth grinding disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2846"^^xsd:string) AnnotationAssertion(rdfs:label "bruxism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (hairy cell leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hairy_cell_leukemia"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30723113"^^xsd:string) "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000956"^^xsd:string) AnnotationAssertion( "GARD:6560"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.4"^^xsd:string) AnnotationAssertion( "ICD9CM:202.4"^^xsd:string) AnnotationAssertion( "ICDO:9940/3"^^xsd:string) AnnotationAssertion( "MESH:D007943"^^xsd:string) AnnotationAssertion( "NCI:C7402"^^xsd:string) AnnotationAssertion( "Leukemic Reticuloendothelioses"^^xsd:string) AnnotationAssertion( "hairy cell leukemias"^^xsd:string) AnnotationAssertion( "leukemic reticuloendotheliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:285"^^xsd:string) AnnotationAssertion(rdfs:label "hairy cell leukemia"^^xsd:string) SubClassOf( ) # Class: (hyperthyroxinemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hyperthyroxinemia"^^xsd:string) "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004127"^^xsd:string) AnnotationAssertion( "MESH:D006981"^^xsd:string) AnnotationAssertion( "NCI:C131850"^^xsd:string) AnnotationAssertion( "Hyperthyroxinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2855"^^xsd:string) AnnotationAssertion(rdfs:label "hyperthyroxinemia"^^xsd:string) SubClassOf( ) # Class: (euthyroid sick syndrome) AnnotationAssertion(Annotation( "MESH:D005067"^^xsd:string) "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased."^^xsd:string) AnnotationAssertion( "EFO:1000931"^^xsd:string) AnnotationAssertion( "ICD10CM:E07.81"^^xsd:string) AnnotationAssertion( "ICD9CM:790.94"^^xsd:string) AnnotationAssertion( "MESH:D005067"^^xsd:string) AnnotationAssertion( "NCI:C113170"^^xsd:string) AnnotationAssertion( "High T4 Syndrome"^^xsd:string) AnnotationAssertion( "High T4 Syndromes"^^xsd:string) AnnotationAssertion( "Low T3 High T4 Syndrome"^^xsd:string) AnnotationAssertion( "Low T3 Low T4 Syndrome"^^xsd:string) AnnotationAssertion( "Low T3 Syndrome"^^xsd:string) AnnotationAssertion( "Low T3 and Low T4 Syndrome"^^xsd:string) AnnotationAssertion( "euthyroid sick syndromes"^^xsd:string) AnnotationAssertion( "non-thyroidal illness syndrome"^^xsd:string) AnnotationAssertion( "non-thyroidal illness syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2856"^^xsd:string) AnnotationAssertion(rdfs:label "euthyroid sick syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemoglobin C disease) AnnotationAssertion(Annotation( "MESH:D006445"^^xsd:string) "A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice."^^xsd:string) AnnotationAssertion( "DOID:9000130"^^xsd:string) AnnotationAssertion( "GARD:2640"^^xsd:string) AnnotationAssertion( "MESH:C531699"^^xsd:string) AnnotationAssertion( "MESH:D006445"^^xsd:string) AnnotationAssertion( "NCI:C34675"^^xsd:string) AnnotationAssertion( "Hb-C disease"^^xsd:string) AnnotationAssertion( "hemoglobin C"^^xsd:string) AnnotationAssertion( "hemoglobin C diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2859"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobin C disease"^^xsd:string) SubClassOf( ) # Class: (hemoglobinopathy) AnnotationAssertion(Annotation( "MESH:D006453"^^xsd:string) "A group of inherited disorders characterized by structural alterations within the hemoglobin molecule."^^xsd:string) AnnotationAssertion( "RDO:0004839"^^xsd:string) AnnotationAssertion( "GARD:12455"^^xsd:string) AnnotationAssertion( "MESH:D006453"^^xsd:string) AnnotationAssertion( "NCI:C3092"^^xsd:string) AnnotationAssertion( "hemoglobinopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ABRUZZO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ATHENS-GEORGIA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN BEIRUT"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN BIRMINGHAM (USA)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN BROUSSAIS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN BUFFALO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN BUGINESE-X"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DEACONESS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HASHARON"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HIKARI"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HOPKINS 2"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN J (BROUSSAIS)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN J (LOME)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN K (WOOLWICH)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN L (FERRARA)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN LESLIE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MONTGOMERY"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN O (BUGINESE-X)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN O (INDONESIA)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN O (OLIVIERE)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN OLIVIERE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN RALEIGH"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SAALE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SEAL ROCK"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SEALY"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SHELBY"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SINAI"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SUN PRAIRIE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN TENDE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN TYNE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN WACO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN YUSA"^^xsd:string) AnnotationAssertion( "Hb Footscray"^^xsd:string) AnnotationAssertion( "Hemoglobin Adana"^^xsd:string) AnnotationAssertion( "Hemoglobin Aghia Sophia"^^xsd:string) AnnotationAssertion( "Hemoglobin Agrinio"^^xsd:string) AnnotationAssertion( "Hemoglobin Clinico-Madrid"^^xsd:string) AnnotationAssertion( "Hemoglobin Footscray"^^xsd:string) AnnotationAssertion( "Hemoglobin Icaria"^^xsd:string) AnnotationAssertion( "Hemoglobin Sallanches"^^xsd:string) AnnotationAssertion( "abnormal hemoglobin"^^xsd:string) AnnotationAssertion( "hemoglobin Val de Marne"^^xsd:string) AnnotationAssertion( "DOID:2860"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobinopathy"^^xsd:string) SubClassOf( ) # Class: (congenital nonspherocytic hemolytic anemia) AnnotationAssertion(Annotation( "MESH:D000746"^^xsd:string) "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE."^^xsd:string) AnnotationAssertion( "EFO:1000641"^^xsd:string) AnnotationAssertion( "MESH:D000746"^^xsd:string) AnnotationAssertion( "ORDO:712"^^xsd:string) AnnotationAssertion( "CNSHA"^^xsd:string) AnnotationAssertion( "HNSHA"^^xsd:string) AnnotationAssertion( "chronic nonspherocytic hemolytic anemia"^^xsd:string) AnnotationAssertion( "congenital nonspherocytic hemolytic anaemia"^^xsd:string) AnnotationAssertion( "hereditary nonspherocytic hemolytic anaemia"^^xsd:string) AnnotationAssertion( "hereditary nonspherocytic hemolytic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MANUKAU"^^xsd:string) AnnotationAssertion( "DOID:2861"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nonspherocytic hemolytic anemia"^^xsd:string) SubClassOf( ) # Class: (glucosephosphate dehydrogenase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency"^^xsd:string) "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007287"^^xsd:string) AnnotationAssertion( "GARD:6520"^^xsd:string) AnnotationAssertion( "MESH:D005955"^^xsd:string) AnnotationAssertion( "NCI:C98933"^^xsd:string) AnnotationAssertion( "G6PD Deficiency"^^xsd:string) AnnotationAssertion( "G6PD deficiencies"^^xsd:string) AnnotationAssertion( "GPD Deficiencies"^^xsd:string) AnnotationAssertion( "GPD deficiency"^^xsd:string) AnnotationAssertion( "Glucose 6 Phosphate Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Glucose-6-Phosphate Dehydrogenase Deficiencies"^^xsd:string) AnnotationAssertion( "Glucosephosphate Dehydrogenase Deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of G-6PD"^^xsd:string) AnnotationAssertion( "deficiency of glucose 6 phosphate dehydrogenase"^^xsd:string) AnnotationAssertion( "hemolytic anemia due to G6PD deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "G6PD IOWA"^^xsd:string) AnnotationAssertion( "G6PD IOWA CITY"^^xsd:string) AnnotationAssertion( "G6PD SPRINGFIELD"^^xsd:string) AnnotationAssertion( "G6PD WALTER REED"^^xsd:string) AnnotationAssertion( "DOID:2862"^^xsd:string) AnnotationAssertion(rdfs:label "glucosephosphate dehydrogenase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An endometrial carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "endometrioid adenomas and carcinomas"^^xsd:string) AnnotationAssertion( "endometrioid endometrial cancer"^^xsd:string) AnnotationAssertion( "EFO:0005232"^^xsd:string) AnnotationAssertion( "EFO:1000233"^^xsd:string) AnnotationAssertion( "EFO:1001514"^^xsd:string) AnnotationAssertion( "EFO:1001953"^^xsd:string) AnnotationAssertion( "NCI:C3769"^^xsd:string) AnnotationAssertion( "NCI:C6287"^^xsd:string) AnnotationAssertion( "NCI:C6290"^^xsd:string) AnnotationAssertion( "NCI:C63961"^^xsd:string) AnnotationAssertion( "NCI:C7359"^^xsd:string) AnnotationAssertion( "EEC"^^xsd:string) AnnotationAssertion( "Type I endometrial carcinoma"^^xsd:string) AnnotationAssertion( "adenocarcinoma of endometrium"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the endometrium"^^xsd:string) AnnotationAssertion( "adenocarcinoma of uterus"^^xsd:string) AnnotationAssertion( "endometrial adenoacanthoma"^^xsd:string) AnnotationAssertion( "endometrial endometrioid adenocarcinoma"^^xsd:string) AnnotationAssertion( "endometrial endometrioid carcinoma"^^xsd:string) AnnotationAssertion( "endometrioid adenoma or carcinoma"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma of endometrium"^^xsd:string) AnnotationAssertion( "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION"^^xsd:string) AnnotationAssertion( "endometrial endometrioid adenocarcinoma with squamous differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2870"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/endometrial"^^xsd:string) "A endometrial cancer that is located_in the tissue lining the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000242"^^xsd:string) AnnotationAssertion( "EFO:1001512"^^xsd:string) AnnotationAssertion( "NCI:C7558"^^xsd:string) AnnotationAssertion( "carcinoma of endometrium"^^xsd:string) AnnotationAssertion( "carcinoma of the Endometrium"^^xsd:string) AnnotationAssertion( "endometrial carcinomas"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma of female Reproductive system"^^xsd:string) AnnotationAssertion( "endometrium carcinoma"^^xsd:string) AnnotationAssertion( "endometrium carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2871"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngeal squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A laryngeal carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006352"^^xsd:string) AnnotationAssertion( "NCI:C4044"^^xsd:string) AnnotationAssertion( "ORDO:494550"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the larynx"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2876"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (larynx sarcoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S1726490109701893"^^xsd:string) "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6020"^^xsd:string) AnnotationAssertion( "sarcoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2877"^^xsd:string) AnnotationAssertion(rdfs:label "larynx sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodular degeneration of cornea) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H18.45"^^xsd:string) AnnotationAssertion( "ICD9CM:371.46"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2879"^^xsd:string) AnnotationAssertion(rdfs:label "nodular degeneration of cornea"^^xsd:string) SubClassOf( ) # Class: (endometriosis of uterus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometriosis"^^xsd:string) "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600458"^^xsd:string) AnnotationAssertion( "EFO:1001757"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.0"^^xsd:string) AnnotationAssertion( "ICD9CM:617.0"^^xsd:string) AnnotationAssertion( "MESH:D062788"^^xsd:string) AnnotationAssertion( "NCI:C6996"^^xsd:string) AnnotationAssertion( "adenomyoses"^^xsd:string) AnnotationAssertion( "adenomyosis"^^xsd:string) AnnotationAssertion( "endometriosis interna"^^xsd:string) AnnotationAssertion( "endometriosis of myometrium"^^xsd:string) AnnotationAssertion( "myometrium endometriosis"^^xsd:string) AnnotationAssertion( "uterine adenomyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:288"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis of uterus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prostatic adenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33102081/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24649766"^^xsd:string) "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4795"^^xsd:string) AnnotationAssertion( "adenoma of prostate"^^xsd:string) AnnotationAssertion( "benign adenoma of prostate"^^xsd:string) AnnotationAssertion( "prostate adenoma"^^xsd:string) AnnotationAssertion( "prostatic adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2883"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (benign prostate phyllodes tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5532"^^xsd:string) AnnotationAssertion( "NCI:C7574"^^xsd:string) AnnotationAssertion( "RDO:9005065"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7574"^^xsd:string) "Phyllodes neoplasm of the prostate"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5532"^^xsd:string) "benign Phyllodes neoplasm of the prostate"^^xsd:string) AnnotationAssertion( "benign prostate phyllodes tumour"^^xsd:string) AnnotationAssertion( "prostate phyllodes tumor"^^xsd:string) AnnotationAssertion( "prostate phyllodes tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2885"^^xsd:string) AnnotationAssertion(rdfs:label "benign prostate phyllodes tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/"^^xsd:string) "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5544"^^xsd:string) AnnotationAssertion( "prostatic leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2887"^^xsd:string) AnnotationAssertion(rdfs:label "prostate leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retrocochlear disease) AnnotationAssertion(Annotation( "MESH:D012181"^^xsd:string) "Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss."^^xsd:string) AnnotationAssertion( "MESH:D012181"^^xsd:string) AnnotationAssertion( "RDO:0004713"^^xsd:string) AnnotationAssertion( "Retrocochlear Hearing Loss"^^xsd:string) AnnotationAssertion( "retrocochlear diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2889"^^xsd:string) AnnotationAssertion(rdfs:label "retrocochlear disease"^^xsd:string) SubClassOf( ) # Class: (endometriosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/?title=Endometriosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20574791"^^xsd:string) "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131200"^^xsd:string) AnnotationAssertion( "EFO:0001065"^^xsd:string) AnnotationAssertion( "ICD10CM:N80"^^xsd:string) AnnotationAssertion( "ICD10CM:N80.9"^^xsd:string) AnnotationAssertion( "ICD9CM:617"^^xsd:string) AnnotationAssertion( "MESH:D004715"^^xsd:string) AnnotationAssertion( "NCI:C3014"^^xsd:string) AnnotationAssertion( "ENDO1"^^xsd:string) AnnotationAssertion( "endometrioma"^^xsd:string) AnnotationAssertion( "endometriomas"^^xsd:string) AnnotationAssertion( "endometrioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:289"^^xsd:string) AnnotationAssertion(rdfs:label "endometriosis"^^xsd:string) SubClassOf( ) # Class: (thyroid adenoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma"^^xsd:string) "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3502"^^xsd:string) AnnotationAssertion( "adenoma of thyroid gland"^^xsd:string) AnnotationAssertion( "thyroid adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2891"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (exocervical carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14675699"^^xsd:string) "A cervix carcinoma that is located_in the exocervix. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C7453"^^xsd:string) AnnotationAssertion( "carcinoma of exocervix"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7453"^^xsd:string) "carcinoma of the Exocervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2892"^^xsd:string) AnnotationAssertion(rdfs:label "exocervical carcinoma"^^xsd:string) SubClassOf( ) # Class: (cervix carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cervical_cancer"^^xsd:string) "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001061"^^xsd:string) AnnotationAssertion( "EFO:1002015"^^xsd:string) AnnotationAssertion( "NCI:C24068"^^xsd:string) AnnotationAssertion( "NCI:C9039"^^xsd:string) AnnotationAssertion( "carcinoma cervix uteri"^^xsd:string) AnnotationAssertion( "carcinoma of cervix"^^xsd:string) AnnotationAssertion( "carcinoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "cervical carcinoma"^^xsd:string) AnnotationAssertion( "HPV-associated cervical carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2893"^^xsd:string) AnnotationAssertion(rdfs:label "cervix carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Goldenhar syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Goldenhar_syndrome"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/goldenhar-syndrome"^^xsd:string) Annotation( "https://www.faces-cranio.org/goldenhar"^^xsd:string) "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (DO)"^^xsd:string) AnnotationAssertion( "MIM:141400"^^xsd:string) AnnotationAssertion( "MIM:164210"^^xsd:string) AnnotationAssertion( "GARD:6540"^^xsd:string) AnnotationAssertion( "MESH:D006053"^^xsd:string) AnnotationAssertion( "NCI:C84740"^^xsd:string) AnnotationAssertion( "ORDO:374"^^xsd:string) AnnotationAssertion( "CFM1"^^xsd:string) AnnotationAssertion( "Craniofacial Microsomia"^^xsd:string) AnnotationAssertion( "FAV SEQUENCE"^^xsd:string) AnnotationAssertion( "Facioauriculovertebral Dysplasia"^^xsd:string) AnnotationAssertion( "Facioauriculovertebral Sequence"^^xsd:string) AnnotationAssertion( "First and Second Branchial Arch Syndrome"^^xsd:string) AnnotationAssertion( "Goldenhar Disease"^^xsd:string) AnnotationAssertion( "Goldenhar Gorlin Syndrome"^^xsd:string) AnnotationAssertion( "Goldenhar Syndrome with Ipsilateral Radial Defect"^^xsd:string) AnnotationAssertion( "Goldenhar-Gorlin Syndromes"^^xsd:string) AnnotationAssertion( "HFM"^^xsd:string) AnnotationAssertion( "Hemifacial Microsomia"^^xsd:string) AnnotationAssertion( "Hemifacial Microsomia with Radial Defects"^^xsd:string) AnnotationAssertion( "Lateral Facial Dysplasia"^^xsd:string) AnnotationAssertion( "Lateral Facial Dysplasias"^^xsd:string) AnnotationAssertion( "Microsomia Hemifacial Radial Defects"^^xsd:string) AnnotationAssertion( "Moeschler Clarren Syndrome"^^xsd:string) AnnotationAssertion( "OAV (oculoauriculovertebral) dysplasia"^^xsd:string) AnnotationAssertion( "OAV DYSPLASIA"^^xsd:string) AnnotationAssertion( "OAVS"^^xsd:string) AnnotationAssertion( "OAVS with Radial Defect"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Dysplasia"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Dysplasias"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Spectrum"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Spectrum with Radial Defect"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Spectrums"^^xsd:string) AnnotationAssertion( "Oculoauriculovertebral Syndrome"^^xsd:string) AnnotationAssertion( "craniofacial microsomia 1"^^xsd:string) AnnotationAssertion( "craniofacial microsomias"^^xsd:string) AnnotationAssertion( "facio-auriculo-vertebral spectrum"^^xsd:string) AnnotationAssertion( "facioauriculovertebral dysplasias"^^xsd:string) AnnotationAssertion( "facioauriculovertebral sequences"^^xsd:string) AnnotationAssertion( "first and second pharyngeal arch syndromes"^^xsd:string) AnnotationAssertion( "first arch syndrome"^^xsd:string) AnnotationAssertion( "oral-mandibular-auricular syndrome"^^xsd:string) AnnotationAssertion( "oral-mandibular-auricular syndromes"^^xsd:string) AnnotationAssertion( "otomandibular dysostoses"^^xsd:string) AnnotationAssertion( "otomandibular dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2907"^^xsd:string) AnnotationAssertion(rdfs:label "Goldenhar syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Treacher Collins syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1532/"^^xsd:string) "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003954"^^xsd:string) AnnotationAssertion( "GARD:9124"^^xsd:string) AnnotationAssertion( "ICD10CM:Q75.4"^^xsd:string) AnnotationAssertion( "MIM:PS154500"^^xsd:string) AnnotationAssertion( "MONDO:0002457"^^xsd:string) AnnotationAssertion( "NCI:C75018"^^xsd:string) AnnotationAssertion( "Franceschetti syndrome"^^xsd:string) AnnotationAssertion( "MFD1"^^xsd:string) AnnotationAssertion( "Mandibulofacial Dysostosis (MFD1)"^^xsd:string) AnnotationAssertion( "TCS"^^xsd:string) AnnotationAssertion( "Treacher Collins syndrome, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2908"^^xsd:string) AnnotationAssertion(rdfs:label "Treacher Collins syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute pancreatitis) AnnotationAssertion(Annotation( "https://www.nhs.uk/conditions/acute-pancreatitis/"^^xsd:string) "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000652"^^xsd:string) AnnotationAssertion( "EFO:1001507"^^xsd:string) AnnotationAssertion( "ICD10CM:K85"^^xsd:string) AnnotationAssertion( "ICD9CM:577.0"^^xsd:string) AnnotationAssertion( "NCI:C95437"^^xsd:string) AnnotationAssertion( "AAP"^^xsd:string) AnnotationAssertion( "MAP"^^xsd:string) AnnotationAssertion( "SAP"^^xsd:string) AnnotationAssertion( "asparaginase-induced acute pancreatitis"^^xsd:string) AnnotationAssertion( "mild acute pancreatitis"^^xsd:string) AnnotationAssertion( "severe acute pancreatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2913"^^xsd:string) AnnotationAssertion(rdfs:label "acute pancreatitis"^^xsd:string) SubClassOf( ) # Class: (immune system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Immune_system"^^xsd:string) "A disease of anatomical entity that is located_in the immune system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000540"^^xsd:string) AnnotationAssertion( "EFO:0007926"^^xsd:string) AnnotationAssertion( "ICD10CM:D89.9"^^xsd:string) AnnotationAssertion( "ICD9CM:279.9"^^xsd:string) AnnotationAssertion( "MESH:D007154"^^xsd:string) AnnotationAssertion( "Immune Disease"^^xsd:string) AnnotationAssertion( "Immune Diseases"^^xsd:string) AnnotationAssertion( "Immune Disorder"^^xsd:string) AnnotationAssertion( "Immune Disorders"^^xsd:string) AnnotationAssertion( "Immune System Diseases"^^xsd:string) AnnotationAssertion( "Immunologic Disease"^^xsd:string) AnnotationAssertion( "Immunological Disease"^^xsd:string) AnnotationAssertion( "Immunological Diseases"^^xsd:string) AnnotationAssertion( "diseases of immune system"^^xsd:string) AnnotationAssertion( "immunologic diseases"^^xsd:string) AnnotationAssertion( "hyper-inflammatory immune response"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2914"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "immune system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypersensitivity reaction type IV disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Type_IV_hypersensitivity"^^xsd:string) "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C88.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "immunoproliferative disease"^^xsd:string) AnnotationAssertion( "DOID:2916"^^xsd:string) AnnotationAssertion(rdfs:label "hypersensitivity reaction type IV disease"^^xsd:string) SubClassOf( ) # Class: (cryoglobulinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cryoglobulinemia"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm"^^xsd:string) "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005846"^^xsd:string) AnnotationAssertion( "GARD:6217"^^xsd:string) AnnotationAssertion( "ICD10CM:D89.1"^^xsd:string) AnnotationAssertion( "MESH:D003449"^^xsd:string) AnnotationAssertion( "NCI:C26736"^^xsd:string) AnnotationAssertion( "cryoglobulinemias"^^xsd:string) AnnotationAssertion( "cryoimmunoglobulinaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2917"^^xsd:string) AnnotationAssertion(rdfs:label "cryoglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lacrimal system cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5102"^^xsd:string) AnnotationAssertion( "lacrimal system neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of lacrimal system"^^xsd:string) AnnotationAssertion( "tumor of the lacrimal system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:292"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (membranoproliferative glomerulonephritis) AnnotationAssertion(Annotation( "MESH:D015432"^^xsd:string) "Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."^^xsd:string) AnnotationAssertion( "GARD:11982"^^xsd:string) AnnotationAssertion( "MESH:D015432"^^xsd:string) AnnotationAssertion( "MIM:PS137950"^^xsd:string) AnnotationAssertion( "NCI:C34644"^^xsd:string) AnnotationAssertion( "Dense Deposit Disease"^^xsd:string) AnnotationAssertion( "Hypocomplementemic Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Hypocomplementemic Glomerulonephritis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:80321008"^^xsd:string) "Lobular glomerulonephritis"^^xsd:string) AnnotationAssertion( "MPGN"^^xsd:string) AnnotationAssertion( "Membranoproliferative Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Membranoproliferative Glomerulonephritis, Type I"^^xsd:string) AnnotationAssertion( "Mesangiocapillary Glomerulonephritides"^^xsd:string) AnnotationAssertion( "Mesangiocapillary Glomerulonephritis"^^xsd:string) AnnotationAssertion( "Mesangiocapillary Glomerulonephritis, Type I"^^xsd:string) AnnotationAssertion( "Subendothelial Membranoproliferative Glomerulonephritis"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:582.2"^^xsd:string) "chronic glomerulonephritis, lobular"^^xsd:string) AnnotationAssertion( "MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY"^^xsd:string) AnnotationAssertion( "MESANGIOCAPILLARY GLOMERULONEPHRITIS, TYPE II"^^xsd:string) AnnotationAssertion( "Membranoproliferative Glomerulonephritis Type II"^^xsd:string) AnnotationAssertion( "Membranoproliferative Glomerulonephritis, Type III"^^xsd:string) AnnotationAssertion( "NON-IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2920"^^xsd:string) AnnotationAssertion(rdfs:label "membranoproliferative glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomerulonephritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glomerulonephritis"^^xsd:string) "A nephritis that causes inflammation of the glomeruli located_in kidney. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6516"^^xsd:string) AnnotationAssertion( "MESH:D005921"^^xsd:string) AnnotationAssertion( "MONDO:0002462"^^xsd:string) AnnotationAssertion( "NCI:C26784"^^xsd:string) AnnotationAssertion( "Bright Disease"^^xsd:string) AnnotationAssertion( "Glomerulonephritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Primary Glomerulonephritis"^^xsd:string) AnnotationAssertion( "DOID:2921"^^xsd:string) AnnotationAssertion(rdfs:label "glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klippel-Trenaunay syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/149000"^^xsd:string) "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536889"^^xsd:string) AnnotationAssertion( "MIM:149000"^^xsd:string) AnnotationAssertion( "EFO:0007334"^^xsd:string) AnnotationAssertion( "MESH:D007715"^^xsd:string) AnnotationAssertion( "NCI:C84801"^^xsd:string) AnnotationAssertion( "ORDO:90308"^^xsd:string) AnnotationAssertion( "Angio Osteohypertrophy Syndrome"^^xsd:string) AnnotationAssertion( "Angioosteohypertrophy Syndrome"^^xsd:string) AnnotationAssertion( "Angioosteohypertrophy Syndromes"^^xsd:string) AnnotationAssertion( "Congenital Dysplastic Angiopathies"^^xsd:string) AnnotationAssertion( "Congenital Dysplastic Angiopathy"^^xsd:string) AnnotationAssertion( "Haemangiectatic hypertrophy"^^xsd:string) AnnotationAssertion( "KTS"^^xsd:string) AnnotationAssertion( "KTW Syndrome"^^xsd:string) AnnotationAssertion( "KTW syndromes"^^xsd:string) AnnotationAssertion( "Klippel Trenaunay Disease"^^xsd:string) AnnotationAssertion( "Klippel Trénaunay Weber Syndrome"^^xsd:string) AnnotationAssertion( "Klippel-Trenaunay Syndromes"^^xsd:string) AnnotationAssertion( "Klippel-Trenaunay-Weber syndrome"^^xsd:string) AnnotationAssertion( "Weber Klippel Trenaunay"^^xsd:string) AnnotationAssertion( "angio-osteohypertrophy syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2926"^^xsd:string) AnnotationAssertion(rdfs:label "Klippel-Trenaunay syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Newcastle disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Virulent_Newcastle_disease"^^xsd:string) Annotation( "https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526237/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1822603/"^^xsd:string) "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007395"^^xsd:string) AnnotationAssertion( "MESH:D009521"^^xsd:string) AnnotationAssertion( "NCI:C34849"^^xsd:string) AnnotationAssertion( "Newcastle's disease"^^xsd:string) AnnotationAssertion( "pseudo-fowlpest"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2929"^^xsd:string) AnnotationAssertion(rdfs:label "Newcastle disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal gland carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6129"^^xsd:string) AnnotationAssertion( "carcinoma of the lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:293"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aleutian mink disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aleutian_Disease"^^xsd:string) Annotation( "http://www.cdc.gov/eid/content/15/12/2040.htm"^^xsd:string) "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007139"^^xsd:string) AnnotationAssertion( "MESH:D000453"^^xsd:string) AnnotationAssertion( "Aleutian Disease of Mink"^^xsd:string) AnnotationAssertion( "Aleutian disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2934"^^xsd:string) AnnotationAssertion(rdfs:label "aleutian mink disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chediak-Higashi syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25129365"^^xsd:string) "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531649"^^xsd:string) AnnotationAssertion( "MIM:214500"^^xsd:string) AnnotationAssertion( "GARD:6035"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.330"^^xsd:string) AnnotationAssertion( "MESH:D002609"^^xsd:string) AnnotationAssertion( "NCI:C2941"^^xsd:string) AnnotationAssertion( "ORDO:167"^^xsd:string) AnnotationAssertion( "CHS"^^xsd:string) AnnotationAssertion( "Chediak - Steinbrinck anomaly"^^xsd:string) AnnotationAssertion( "Chediak-Steinbrinck-Higashi syndrome"^^xsd:string) AnnotationAssertion( "Chédiak-Higashi syndrome"^^xsd:string) AnnotationAssertion( "LYST-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "neutropenia and hyperlymphocytosis with large granular lymphocytes"^^xsd:string) AnnotationAssertion( "oculocutaneous albinism with leukocyte defect"^^xsd:string) AnnotationAssertion( "AUTOINFLAMMATORY SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2935"^^xsd:string) AnnotationAssertion(rdfs:label "Chediak-Higashi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epstein-Barr virus infectious disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection"^^xsd:string) Annotation( "https://www.cdc.gov/epstein-barr/about-ebv.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK559285/"^^xsd:string) "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-29T09:50:31Z"^^xsd:string) AnnotationAssertion( "DOID:9000509"^^xsd:string) AnnotationAssertion( "EFO:0000769"^^xsd:string) AnnotationAssertion( "MESH:D020031"^^xsd:string) AnnotationAssertion( "NCI:C38759"^^xsd:string) AnnotationAssertion( "EBV Infection"^^xsd:string) AnnotationAssertion( "EBV Infections"^^xsd:string) AnnotationAssertion( "Epstein-Barr Virus Infections"^^xsd:string) AnnotationAssertion( "Epstein-Barr virus infection"^^xsd:string) AnnotationAssertion( "Human Herpes Virus 4 Infections"^^xsd:string) AnnotationAssertion( "Human Herpesvirus 4 Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2938"^^xsd:string) AnnotationAssertion(rdfs:label "Epstein-Barr virus infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal gland cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:190.2"^^xsd:string) AnnotationAssertion( "NCI:C3563"^^xsd:string) AnnotationAssertion( "NCI:C4360"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lacrimal gland"^^xsd:string) AnnotationAssertion( "malignant tumour of lacrimal gland"^^xsd:string) AnnotationAssertion( "neoplasm of lacrimal gland"^^xsd:string) AnnotationAssertion( "tumor of the lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:294"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland cancer"^^xsd:string) SubClassOf( ) # Class: (bronchiolitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bronchiolitis"^^xsd:string) "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D001988"^^xsd:string) AnnotationAssertion( "MONDO:0002465"^^xsd:string) AnnotationAssertion( "NCI:C39658"^^xsd:string) AnnotationAssertion( "bronchiolitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2942"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiolitis"^^xsd:string) SubClassOf( ) # Class: (severe acute respiratory syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS"^^xsd:string) "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000694"^^xsd:string) AnnotationAssertion( "GARD:9237"^^xsd:string) AnnotationAssertion( "ICD10CM:J12.81"^^xsd:string) AnnotationAssertion( "ICD9CM:079.82"^^xsd:string) AnnotationAssertion( "MESH:D045169"^^xsd:string) AnnotationAssertion( "NCI:C85064"^^xsd:string) AnnotationAssertion( "SARS"^^xsd:string) AnnotationAssertion( "SARS (Severe Acute Respiratory Syndrome)"^^xsd:string) AnnotationAssertion( "SARS-CoV infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2945"^^xsd:string) AnnotationAssertion(rdfs:label "severe acute respiratory syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (eye carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=444991"^^xsd:string) "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000405"^^xsd:string) AnnotationAssertion( "NCI:C6079"^^xsd:string) AnnotationAssertion( "Ocular carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of eye"^^xsd:string) AnnotationAssertion( "Ocular Sebaceous Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:295"^^xsd:string) AnnotationAssertion(rdfs:label "eye carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (motion sickness) AnnotationAssertion(Annotation( "MESH:D009041"^^xsd:string) "Disorder caused by motion, as sea sickness, train sickness, car sickness, air sickness, or SPACE MOTION SICKNESS. It may include nausea, vomiting and dizziness."^^xsd:string) AnnotationAssertion( "MIM:158280"^^xsd:string) AnnotationAssertion( "EFO:0006928"^^xsd:string) AnnotationAssertion( "ICD10CM:T75.3"^^xsd:string) AnnotationAssertion( "ICD9CM:994.6"^^xsd:string) AnnotationAssertion( "MESH:D009041"^^xsd:string) AnnotationAssertion( "NCI:C34824"^^xsd:string) AnnotationAssertion( "Airsickness"^^xsd:string) AnnotationAssertion( "Car Sickness"^^xsd:string) AnnotationAssertion( "Carsickness"^^xsd:string) AnnotationAssertion( "Sea Sickness"^^xsd:string) AnnotationAssertion( "air sickness"^^xsd:string) AnnotationAssertion( "seasickness"^^xsd:string) AnnotationAssertion( "travel sickness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2951"^^xsd:string) AnnotationAssertion(rdfs:label "motion sickness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inner ear disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders"^^xsd:string) "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009672"^^xsd:string) AnnotationAssertion( "ICD10CM:H83.9"^^xsd:string) AnnotationAssertion( "MESH:D007759"^^xsd:string) AnnotationAssertion( "NCI:C128369"^^xsd:string) AnnotationAssertion( "NCI:C27166"^^xsd:string) AnnotationAssertion( "Labyrinth Disease"^^xsd:string) AnnotationAssertion( "inner ear diseases"^^xsd:string) AnnotationAssertion( "labyrinth diseases"^^xsd:string) AnnotationAssertion( "labyrinthine disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2952"^^xsd:string) AnnotationAssertion(rdfs:label "inner ear disease"^^xsd:string) SubClassOf( ) # Class: (pulmonary tuberculosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/tb/publications/factsheets/general/tb.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis"^^xsd:string) "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000049"^^xsd:string) AnnotationAssertion( "ICD10CM:A15"^^xsd:string) AnnotationAssertion( "ICD9CM:011"^^xsd:string) AnnotationAssertion( "MESH:D014397"^^xsd:string) AnnotationAssertion( "NCI:C26899"^^xsd:string) AnnotationAssertion( "Pulmonary Consumption"^^xsd:string) AnnotationAssertion( "Pulmonary Phthises"^^xsd:string) AnnotationAssertion( "Pulmonary Phthisis"^^xsd:string) AnnotationAssertion( "pulmonary consumptions"^^xsd:string) AnnotationAssertion( "pulmonary tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2957"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperimmunoglobulin syndrome) AnnotationAssertion(Annotation( "https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579"^^xsd:string) "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "NCI:C27579"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2959"^^xsd:string) AnnotationAssertion(rdfs:label "hyperimmunoglobulin syndrome"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (mixed lacrimal gland cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6804"^^xsd:string) AnnotationAssertion( "RDO:9002231"^^xsd:string) AnnotationAssertion( "carcinoma Ex Pleomorphic adenoma of the lacrimal gland"^^xsd:string) AnnotationAssertion( "carcinoma ex pleomorphic adenoma of lacrimal gland"^^xsd:string) AnnotationAssertion( "malignant mixed neoplasm of lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:296"^^xsd:string) AnnotationAssertion(rdfs:label "mixed lacrimal gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (photosensitive trichothiodystrophy) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/trichothiodystrophy"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/18603627/"^^xsd:string) "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C564733"^^xsd:string) AnnotationAssertion( "NCI:C4924"^^xsd:string) AnnotationAssertion( "IBIDS syndrome"^^xsd:string) AnnotationAssertion( "TTD-P"^^xsd:string) AnnotationAssertion( "Tay syndrome"^^xsd:string) AnnotationAssertion( "photosensitive trichothiodystrophies"^^xsd:string) AnnotationAssertion( "sulfur-deficient brittle hair syndrome"^^xsd:string) AnnotationAssertion( "trichothiodystrophy with congenital ichthyosis"^^xsd:string) AnnotationAssertion( "trichothiodystrophy with sun sensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2960"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitive trichothiodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cockayne syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cockayne_syndrome"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/cockayne-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1342/"^^xsd:string) "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004588"^^xsd:string) AnnotationAssertion( "DOID:9006765"^^xsd:string) AnnotationAssertion( "EFO:0000359"^^xsd:string) AnnotationAssertion( "GARD:6122"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.1"^^xsd:string) AnnotationAssertion( "MESH:C566879"^^xsd:string) AnnotationAssertion( "MESH:C567061"^^xsd:string) AnnotationAssertion( "MESH:D003057"^^xsd:string) AnnotationAssertion( "MONDO:0008998"^^xsd:string) AnnotationAssertion( "MONDO:0016006"^^xsd:string) AnnotationAssertion( "NCI:C9460"^^xsd:string) AnnotationAssertion( "ORDO:191"^^xsd:string) AnnotationAssertion( "ORDO:90321"^^xsd:string) AnnotationAssertion( "ORDO:90322"^^xsd:string) AnnotationAssertion( "ORDO:90324"^^xsd:string) AnnotationAssertion( "Cockayne's syndrome"^^xsd:string) AnnotationAssertion( "Dwarfism-Retinal Atrophy-Deafness Syndrome"^^xsd:string) AnnotationAssertion( "Neill-Dingwall syndrome"^^xsd:string) AnnotationAssertion( "Progeria Like Syndrome"^^xsd:string) AnnotationAssertion( "Progeria-Like Syndromes"^^xsd:string) AnnotationAssertion( "progeroid nanism"^^xsd:string) AnnotationAssertion( "Cockayne Syndrome Type C"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type 3"^^xsd:string) AnnotationAssertion( "Cockayne syndrome type III"^^xsd:string) AnnotationAssertion( "Group C Cockayne Syndrome"^^xsd:string) AnnotationAssertion( "XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX"^^xsd:string) AnnotationAssertion( "XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME"^^xsd:string) AnnotationAssertion( "XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME"^^xsd:string) AnnotationAssertion( "XPG-CS"^^xsd:string) AnnotationAssertion( "XPG/CS"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum B / Cockayne Syndrome"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum G / Cockayne Syndrome"^^xsd:string) AnnotationAssertion( "xeroderma pigmentosum, type G / Cockayne syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2962"^^xsd:string) AnnotationAssertion(rdfs:label "Cockayne syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (periarthritis) AnnotationAssertion(Annotation( "MESH:D010489"^^xsd:string) "Inflammation of the tissues around a joint. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001097"^^xsd:string) AnnotationAssertion( "ICD10CM:M77.9"^^xsd:string) AnnotationAssertion( "MESH:D010489"^^xsd:string) AnnotationAssertion( "RDO:0006320"^^xsd:string) AnnotationAssertion( "Periarthritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2964"^^xsd:string) AnnotationAssertion(rdfs:label "periarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bursitis) AnnotationAssertion(Annotation( "MESH:D002062"^^xsd:string) "Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin."^^xsd:string) AnnotationAssertion( "ICD10CM:M71.9"^^xsd:string) AnnotationAssertion( "MESH:D002062"^^xsd:string) AnnotationAssertion( "NCI:C94407"^^xsd:string) AnnotationAssertion( "Adhesive Capsulitis"^^xsd:string) AnnotationAssertion( "Bursitides"^^xsd:string) AnnotationAssertion( "Capsulitides"^^xsd:string) AnnotationAssertion( "adhesive capsulitides"^^xsd:string) AnnotationAssertion( "capsulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2965"^^xsd:string) AnnotationAssertion(rdfs:label "bursitis"^^xsd:string) SubClassOf( ) # Class: (pleomorphic adenoma carcinoma) AnnotationAssertion(Annotation( "NCI:C40410"^^xsd:string) "This is a carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive."^^xsd:string) AnnotationAssertion( "EFO:1000461"^^xsd:string) AnnotationAssertion( "EFO:1000516"^^xsd:string) AnnotationAssertion( "NCI:C40410"^^xsd:string) AnnotationAssertion( "NCI:C4397"^^xsd:string) AnnotationAssertion( "Salivary Gland Carcinoma ex Pleomorphic Adenoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:17264009"^^xsd:string) "carcinoma ex pleomorphic adenoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:189811003"^^xsd:string) "carcinoma in pleomorphic adenoma"^^xsd:string) AnnotationAssertion( "saliva-secreting gland carcinoma ex pleomorphic adenoma"^^xsd:string) AnnotationAssertion( "Parotid Gland Carcinoma ex Pleomorphic Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:297"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic adenoma carcinoma"^^xsd:string) SubClassOf( ) # Class: (renal artery obstruction) AnnotationAssertion(Annotation( "MESH:D012078"^^xsd:string) "Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)."^^xsd:string) AnnotationAssertion( "EFO:1001150"^^xsd:string) AnnotationAssertion( "ICD10CM:N28.0"^^xsd:string) AnnotationAssertion( "MESH:D012078"^^xsd:string) AnnotationAssertion( "Renal Artery Obstructions"^^xsd:string) AnnotationAssertion( "Renal Artery Stenoses"^^xsd:string) AnnotationAssertion( "Renal Artery Stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2972"^^xsd:string) AnnotationAssertion(rdfs:label "renal artery obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (kidney cortex necrosis) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys"^^xsd:string) "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001003"^^xsd:string) AnnotationAssertion( "ICD10CM:N17.1"^^xsd:string) AnnotationAssertion( "MESH:D007673"^^xsd:string) AnnotationAssertion( "glomerular necrosis"^^xsd:string) AnnotationAssertion( "renal cortical necrosis"^^xsd:string) AnnotationAssertion( "renal tubule necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2973"^^xsd:string) AnnotationAssertion(rdfs:label "kidney cortex necrosis"^^xsd:string) SubClassOf( ) # Class: (cystic kidney disease) AnnotationAssertion(Annotation( "MESH:D052177"^^xsd:string) "A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC)."^^xsd:string) AnnotationAssertion( "EFO:0008615"^^xsd:string) AnnotationAssertion( "EFO:0008616"^^xsd:string) AnnotationAssertion( "EFO:0008619"^^xsd:string) AnnotationAssertion( "EFO:1000313"^^xsd:string) AnnotationAssertion( "MESH:D052177"^^xsd:string) AnnotationAssertion( "Cystic Kidneys"^^xsd:string) AnnotationAssertion( "Cystic Renal Disease"^^xsd:string) AnnotationAssertion( "Cystic Renal Diseases"^^xsd:string) AnnotationAssertion( "cystic kidney"^^xsd:string) AnnotationAssertion( "cystic kidney diseases"^^xsd:string) AnnotationAssertion( "Complex Cyst of Kidney"^^xsd:string) AnnotationAssertion(Annotation( "MTH:646"^^xsd:string) "KIDNEY CYST"^^xsd:string) AnnotationAssertion( "Simple Cyst of Kidney"^^xsd:string) AnnotationAssertion( "renal cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2975"^^xsd:string) AnnotationAssertion(rdfs:label "cystic kidney disease"^^xsd:string) SubClassOf( ) # Class: (primary hyperoxaluria) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27815184"^^xsd:string) "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.53"^^xsd:string) AnnotationAssertion( "ICD10CM:R82.992"^^xsd:string) AnnotationAssertion( "MESH:D006960"^^xsd:string) AnnotationAssertion( "MIM:PS259900"^^xsd:string) AnnotationAssertion( "NCI:C123158"^^xsd:string) AnnotationAssertion( "ORDO:416"^^xsd:string) AnnotationAssertion( "primary hyperoxalurias"^^xsd:string) AnnotationAssertion( "primary oxaloses"^^xsd:string) AnnotationAssertion( "primary oxalosis"^^xsd:string) AnnotationAssertion( "primary oxaluria"^^xsd:string) AnnotationAssertion( "primary oxalurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2977"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperoxaluria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carbohydrate metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism"^^xsd:string) "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. (DO)"^^xsd:string) AnnotationAssertion( "HP:0011020"^^xsd:string) AnnotationAssertion( "MESH:D002239"^^xsd:string) AnnotationAssertion( "MIM:PS606777"^^xsd:string) AnnotationAssertion( "carbohydrate metabolism, inborn error"^^xsd:string) AnnotationAssertion( "carbohydrate metabolism, inborn errors"^^xsd:string) AnnotationAssertion( "disorder of carbohydrate transport and metabolism"^^xsd:string) AnnotationAssertion( "inborn carbohydrate metabolism disorder"^^xsd:string) AnnotationAssertion( "inborn errors of carbohydrate metabolism"^^xsd:string) AnnotationAssertion( "Abnormality of mucopolysaccharide metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2978"^^xsd:string) AnnotationAssertion(rdfs:label "carbohydrate metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (lacrimal gland adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4541"^^xsd:string) AnnotationAssertion( "adenocarcinoma of lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:298"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney papillary necrosis) AnnotationAssertion(Annotation( "MESH:D007681"^^xsd:string) "A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE."^^xsd:string) AnnotationAssertion( "EFO:1001004"^^xsd:string) AnnotationAssertion( "MESH:D007681"^^xsd:string) AnnotationAssertion( "necrotizing renal papillitides"^^xsd:string) AnnotationAssertion( "necrotizing renal papillitis"^^xsd:string) AnnotationAssertion( "papillary necrosis"^^xsd:string) AnnotationAssertion( "renal medullary necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2981"^^xsd:string) AnnotationAssertion(rdfs:label "kidney papillary necrosis"^^xsd:string) SubClassOf( ) # Class: (perinephritis) AnnotationAssertion(Annotation( "MESH:D010501"^^xsd:string) "Inflammation of the connective and adipose tissues surrounding the KIDNEY."^^xsd:string) AnnotationAssertion( "EFO:1001099"^^xsd:string) AnnotationAssertion( "MESH:D010501"^^xsd:string) AnnotationAssertion( "perinephritides"^^xsd:string) AnnotationAssertion( "perinephrium inflammation"^^xsd:string) AnnotationAssertion( "perinephrium inflammations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2982"^^xsd:string) AnnotationAssertion(rdfs:label "perinephritis"^^xsd:string) SubClassOf( ) # Class: (anuria) AnnotationAssertion(Annotation( "MESH:D001002"^^xsd:string) "Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present."^^xsd:string) AnnotationAssertion( "EFO:0009530"^^xsd:string) AnnotationAssertion( "MESH:D001002"^^xsd:string) AnnotationAssertion( "NCI:C114699"^^xsd:string) AnnotationAssertion( "anurias"^^xsd:string) AnnotationAssertion( "suppression of urinary secretion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2983"^^xsd:string) AnnotationAssertion(rdfs:label "anuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IgA glomerulonephritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/IgA_nephropathy"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm"^^xsd:string) "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:161950"^^xsd:string) AnnotationAssertion( "MIM:613944"^^xsd:string) AnnotationAssertion( "MIM:616818"^^xsd:string) AnnotationAssertion( "EFO:0004194"^^xsd:string) AnnotationAssertion( "GARD:863"^^xsd:string) AnnotationAssertion( "MESH:D005922"^^xsd:string) AnnotationAssertion( "MIM:PS161950"^^xsd:string) AnnotationAssertion( "NCI:C34643"^^xsd:string) AnnotationAssertion( "NCI:C35280"^^xsd:string) AnnotationAssertion( "Berger disease"^^xsd:string) AnnotationAssertion( "Berger's IgA or IgG nephropathy"^^xsd:string) AnnotationAssertion( "Berger's disease"^^xsd:string) AnnotationAssertion( "Bergers Disease"^^xsd:string) AnnotationAssertion( "Glomerulonephritides, IGA"^^xsd:string) AnnotationAssertion( "IGA Nephropathy"^^xsd:string) AnnotationAssertion( "IGA Type Nephritis"^^xsd:string) AnnotationAssertion( "IGAN"^^xsd:string) AnnotationAssertion( "IGAN1"^^xsd:string) AnnotationAssertion( "IGAN2"^^xsd:string) AnnotationAssertion( "IGAN3"^^xsd:string) AnnotationAssertion( "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "Iga Nephropathy 1"^^xsd:string) AnnotationAssertion( "focal glomerulonephritis"^^xsd:string) AnnotationAssertion( "immunoglobulin A nephropathy"^^xsd:string) AnnotationAssertion( "primary IgA nephropathy"^^xsd:string) AnnotationAssertion( "segmental glomerulonephritis"^^xsd:string) AnnotationAssertion( "susceptibility to IgA nephropathy-3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Iga nephropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "susceptibility to progression to renal failure in IgA nephropathy"^^xsd:string) AnnotationAssertion( "DOID:2986"^^xsd:string) AnnotationAssertion(rdfs:label "IgA glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial Mediterranean fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Familial_Mediterranean_fever"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract"^^xsd:string) "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:249100"^^xsd:string) AnnotationAssertion( "OMIA:001561"^^xsd:string) AnnotationAssertion( "MEFV-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6421"^^xsd:string) AnnotationAssertion( "ICD10CM:M04.1"^^xsd:string) AnnotationAssertion( "ICD9CM:277.31"^^xsd:string) AnnotationAssertion( "MESH:D010505"^^xsd:string) AnnotationAssertion( "NCI:C84707"^^xsd:string) AnnotationAssertion( "ORDO:342"^^xsd:string) AnnotationAssertion( "FAMILIAL PERIODIC FEVER"^^xsd:string) AnnotationAssertion( "FMF"^^xsd:string) AnnotationAssertion( "Familial Paroxysmal Polyserositis"^^xsd:string) AnnotationAssertion( "Periodic Disease"^^xsd:string) AnnotationAssertion( "Wolff periodic disease"^^xsd:string) AnnotationAssertion( "Wolff's periodic disease"^^xsd:string) AnnotationAssertion( "Wolffs periodic disease"^^xsd:string) AnnotationAssertion( "benign paroxysmal peritonitides"^^xsd:string) AnnotationAssertion( "benign paroxysmal peritonitis"^^xsd:string) AnnotationAssertion( "familial paroxysmal polyserositides"^^xsd:string) AnnotationAssertion( "periodic diseases"^^xsd:string) AnnotationAssertion( "periodic fever syndrome"^^xsd:string) AnnotationAssertion( "periodic peritonitides"^^xsd:string) AnnotationAssertion( "periodic peritonitis"^^xsd:string) AnnotationAssertion( "recurrent polyserositides"^^xsd:string) AnnotationAssertion( "recurrent polyserositis"^^xsd:string) AnnotationAssertion( "Familial Mediterranean Fever, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Familial Mediterranean fever, AR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2987"^^xsd:string) AnnotationAssertion(rdfs:label "familial Mediterranean fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (antiphospholipid syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Antiphospholipid_syndrome"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome"^^xsd:string) "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002689"^^xsd:string) AnnotationAssertion( "GARD:5824"^^xsd:string) AnnotationAssertion( "ICD10CM:D68.61"^^xsd:string) AnnotationAssertion( "MESH:D016736"^^xsd:string) AnnotationAssertion( "NCI:C61283"^^xsd:string) AnnotationAssertion( "APS"^^xsd:string) AnnotationAssertion( "Anti Phospholipid Antibody Syndrome"^^xsd:string) AnnotationAssertion( "Antiphospholipid Antibody Syndrome"^^xsd:string) AnnotationAssertion( "Hughes syndrome"^^xsd:string) AnnotationAssertion( "anti phospholipid syndrome"^^xsd:string) AnnotationAssertion( "antiphospholipid antibody syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2988"^^xsd:string) AnnotationAssertion(rdfs:label "antiphospholipid syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000228"^^xsd:string) AnnotationAssertion( "ICDO:8140/3"^^xsd:string) AnnotationAssertion( "MESH:D000230"^^xsd:string) AnnotationAssertion( "NCI:C2852"^^xsd:string) AnnotationAssertion( "adenocarcinomas"^^xsd:string) AnnotationAssertion( "basal cell adenocarcinoma"^^xsd:string) AnnotationAssertion( "basal cell adenocarcinomas"^^xsd:string) AnnotationAssertion( "cribriform carcinoma"^^xsd:string) AnnotationAssertion( "cribriform carcinomas"^^xsd:string) AnnotationAssertion( "oxyphilic adenocarcinoma"^^xsd:string) AnnotationAssertion( "oxyphilic adenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:299"^^xsd:string) AnnotationAssertion(rdfs:label "adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (prostate neuroendocrine neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5545"^^xsd:string) AnnotationAssertion( "RDO:9001824"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2992"^^xsd:string) AnnotationAssertion(rdfs:label "prostate neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (germ cell cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000352"^^xsd:string) AnnotationAssertion( "NCI:C3708"^^xsd:string) AnnotationAssertion( "germ cell cancers"^^xsd:string) AnnotationAssertion( "malignant tumor of the germ cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2994"^^xsd:string) AnnotationAssertion(rdfs:label "germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed germ cell-sex cord neoplasm) AnnotationAssertion( "NCI:C5241"^^xsd:string) AnnotationAssertion( "mixed germ cell-sex cord tumor"^^xsd:string) AnnotationAssertion( "mixed germ cell-sex cord-stromal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2996"^^xsd:string) AnnotationAssertion(rdfs:label "mixed germ cell-sex cord neoplasm"^^xsd:string) SubClassOf( ) # Class: (Sertoli-Leydig cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour"^^xsd:string) "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000202"^^xsd:string) AnnotationAssertion( "MESH:C537588"^^xsd:string) AnnotationAssertion( "EFO:1000429"^^xsd:string) AnnotationAssertion( "GARD:9967"^^xsd:string) AnnotationAssertion( "MESH:D018310"^^xsd:string) AnnotationAssertion( "Androblastoma"^^xsd:string) AnnotationAssertion( "Androblastomas"^^xsd:string) AnnotationAssertion( "Arrhenoblastoma"^^xsd:string) AnnotationAssertion( "Arrhenoblastomas"^^xsd:string) AnnotationAssertion( "Sertoli-Leydig cell tumors"^^xsd:string) AnnotationAssertion( "Androblastoma of Ovary"^^xsd:string) AnnotationAssertion( "Ovarian Sertoli-Leydig Cell Tumor"^^xsd:string) AnnotationAssertion( "Sertoli-leydig cell tumor of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2997"^^xsd:string) AnnotationAssertion(rdfs:label "Sertoli-Leydig cell tumor"^^xsd:string) SubClassOf( ) # Class: (testicular cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=445090"^^xsd:string) "A male reproductive system cancer that is located_in the testicles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7746"^^xsd:string) AnnotationAssertion( "ICD10CM:C62"^^xsd:string) AnnotationAssertion( "ICD9CM:186"^^xsd:string) AnnotationAssertion( "NCI:C3404"^^xsd:string) AnnotationAssertion( "NCI:C5053"^^xsd:string) AnnotationAssertion( "NCI:C7251"^^xsd:string) AnnotationAssertion( "cancer of testis"^^xsd:string) AnnotationAssertion( "cancer of the testes"^^xsd:string) AnnotationAssertion( "childhood neoplasm of the testis"^^xsd:string) AnnotationAssertion( "malignant tumor of testis"^^xsd:string) AnnotationAssertion( "pediatric testicular neoplasm"^^xsd:string) AnnotationAssertion( "testicular cancers"^^xsd:string) AnnotationAssertion( "testicular tumor"^^xsd:string) AnnotationAssertion( "testis cancer"^^xsd:string) AnnotationAssertion( "testis cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2998"^^xsd:string) AnnotationAssertion(rdfs:label "testicular cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (granulosa cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Granulosa_cell_tumour"^^xsd:string) "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000032"^^xsd:string) AnnotationAssertion( "MESH:D006106"^^xsd:string) AnnotationAssertion( "NCI:C24000"^^xsd:string) AnnotationAssertion( "NCI:C3070"^^xsd:string) AnnotationAssertion( "NCI:C4205"^^xsd:string) AnnotationAssertion( "Cancer of Granulosa Cells"^^xsd:string) AnnotationAssertion( "Granulosa Cell Cancer"^^xsd:string) AnnotationAssertion( "Granulosa Cell Cancers"^^xsd:string) AnnotationAssertion( "Granulosa Cell Tumors"^^xsd:string) AnnotationAssertion( "Granulosa Cells Cancer"^^xsd:string) AnnotationAssertion( "Granulosa Cells Cancers"^^xsd:string) AnnotationAssertion( "Granulosa cell tumor, somatic"^^xsd:string) AnnotationAssertion( "granulosa cell neoplasm"^^xsd:string) AnnotationAssertion( "granulosa cell tumor, adult type"^^xsd:string) AnnotationAssertion( "granulosa cell tumour, sarcomatoid"^^xsd:string) AnnotationAssertion( "malignant granulosa cell neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:2999"^^xsd:string) AnnotationAssertion(rdfs:label "granulosa cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female reproductive endometrioid cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometrioid_tumor"^^xsd:string) "A female reproductive organ cancer that is characterized by a resemblance to endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009118"^^xsd:string) AnnotationAssertion( "NCI:C7113"^^xsd:string) AnnotationAssertion( "RDO:9002285"^^xsd:string) AnnotationAssertion( "endometrioid neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:253013001"^^xsd:string) "endometrioid tumor"^^xsd:string) AnnotationAssertion( "endometrioid tumor (morphologic abnormality)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "female reproductive endometrioid neoplasm"^^xsd:string) AnnotationAssertion( "DOID:3001"^^xsd:string) AnnotationAssertion(rdfs:label "female reproductive endometrioid cancer"^^xsd:string) SubClassOf( ) # Class: (ovary neuroendocrine neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26976990"^^xsd:string) "An ovarian cancer that has_material_basis_in nuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5237"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3002"^^xsd:string) AnnotationAssertion(rdfs:label "ovary neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nipple benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nipple_adenoma"^^xsd:string) "A breast benign neoplasm that is located_in the nipple. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5212"^^xsd:string) AnnotationAssertion( "tumor of nipple"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3003"^^xsd:string) AnnotationAssertion(rdfs:label "nipple benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (breast myoepithelial neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/"^^xsd:string) "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40389"^^xsd:string) AnnotationAssertion( "RDO:9001790"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3004"^^xsd:string) AnnotationAssertion(rdfs:label "breast myoepithelial neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast ductal carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/breastductal"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45085"^^xsd:string) "A breast carcinoma that derives_from the lining of milk ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000430"^^xsd:string) AnnotationAssertion( "EFO:0000431"^^xsd:string) AnnotationAssertion( "EFO:0006318"^^xsd:string) AnnotationAssertion( "duct carcinoma"^^xsd:string) AnnotationAssertion( "ductal breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3007"^^xsd:string) AnnotationAssertion(rdfs:label "breast ductal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (invasive ductal carcinoma) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25343550"^^xsd:string) "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000184"^^xsd:string) AnnotationAssertion( "EFO:0000186"^^xsd:string) AnnotationAssertion( "EFO:0000552"^^xsd:string) AnnotationAssertion( "MESH:D018270"^^xsd:string) AnnotationAssertion( "NCI:C4017"^^xsd:string) AnnotationAssertion( "NCI:C4194"^^xsd:string) AnnotationAssertion( "ductal adenocarcinoma"^^xsd:string) AnnotationAssertion( "infiltrating duct carcinoma"^^xsd:string) AnnotationAssertion( "infiltrating duct carcinoma of breast"^^xsd:string) AnnotationAssertion( "infiltrating duct carcinomas"^^xsd:string) AnnotationAssertion( "infiltrating ductal carcinoma of breast"^^xsd:string) AnnotationAssertion( "invasive breast ductal carcinoma"^^xsd:string) AnnotationAssertion( "invasive ductal breast cancer"^^xsd:string) AnnotationAssertion( "invasive ductal carcinoma, NST"^^xsd:string) AnnotationAssertion( "invasive ductal carcinoma, not otherwise specified"^^xsd:string) AnnotationAssertion( "mammary ductal carcinoma"^^xsd:string) AnnotationAssertion( "mammary ductal carcinomas"^^xsd:string) AnnotationAssertion( "invasive breast ductal and lobular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3008"^^xsd:string) AnnotationAssertion(rdfs:label "invasive ductal carcinoma"^^xsd:string) SubClassOf( ) # Class: (breast neuroendocrine neoplasm) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor"^^xsd:string) "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5169"^^xsd:string) AnnotationAssertion( "RDO:9001791"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3009"^^xsd:string) AnnotationAssertion(rdfs:label "breast neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lobular neoplasia) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia"^^xsd:string) "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000100"^^xsd:string) AnnotationAssertion( "EFO:1000326"^^xsd:string) AnnotationAssertion( "NCI:C27939"^^xsd:string) AnnotationAssertion( "LCIS, lobular carcinoma in situ"^^xsd:string) AnnotationAssertion( "Lobular Breast Carcinoma In Situ"^^xsd:string) AnnotationAssertion( "lobular carcinoma in situ"^^xsd:string) AnnotationAssertion( "lobular intraepithelial neoplasia"^^xsd:string) AnnotationAssertion( "Atypical Lobular Breast Hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3010"^^xsd:string) AnnotationAssertion(rdfs:label "lobular neoplasia"^^xsd:string) SubClassOf( ) # Class: (breast granular cell tumor) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor"^^xsd:string) "A breast cancer that is believed to arises_from Schwann cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40400"^^xsd:string) AnnotationAssertion( "RDO:9001792"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3011"^^xsd:string) AnnotationAssertion(rdfs:label "breast granular cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Li-Fraumeni syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome"^^xsd:string) Annotation( "https://www.lfsassociation.org/what-is-lfs/"^^xsd:string) "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004797"^^xsd:string) AnnotationAssertion( "GARD:6902"^^xsd:string) AnnotationAssertion( "MESH:D016864"^^xsd:string) AnnotationAssertion( "MIM:PS151623"^^xsd:string) AnnotationAssertion( "MONDO:0018875"^^xsd:string) AnnotationAssertion( "NCI:C3476"^^xsd:string) AnnotationAssertion( "ORDO:524"^^xsd:string) AnnotationAssertion( "LFS"^^xsd:string) AnnotationAssertion( "Li-Fraumeni familiar cancer susceptibility syndrome"^^xsd:string) AnnotationAssertion( "SBLA syndrome"^^xsd:string) AnnotationAssertion( "sarcoma family syndrome of Li and Fraumeni"^^xsd:string) AnnotationAssertion( "sarcoma, breast, leukaemia and adrenal gland syndrome"^^xsd:string) AnnotationAssertion( "sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3012"^^xsd:string) AnnotationAssertion(rdfs:label "Li-Fraumeni syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intraductal breast benign neoplasm) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23025963"^^xsd:string) "A breast benign neoplasm that is located_in the breast ducts. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36083"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3013"^^xsd:string) AnnotationAssertion(rdfs:label "intraductal breast benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast malignant phyllodes tumor) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S2214330016300256"^^xsd:string) "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008545"^^xsd:string) AnnotationAssertion( "NCI:C4275"^^xsd:string) AnnotationAssertion( "NCI:C4504"^^xsd:string) AnnotationAssertion( "NCI:C7575"^^xsd:string) AnnotationAssertion( "RDO:9003817"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7575"^^xsd:string) "Phyllodes breast neoplasm"^^xsd:string) AnnotationAssertion( "breast malignant phyllodes tumour"^^xsd:string) AnnotationAssertion( "malignant Mammary Phyllodes tumour"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:189826001"^^xsd:string) "malignant cystosarcoma phyllodes"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4504"^^xsd:string) "malignant mammary phyllodes tumor"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4275"^^xsd:string) "malignant phyllodes neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:87913009"^^xsd:string) "malignant phyllodes tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254844000"^^xsd:string) "malignant phyllodes tumor of breast"^^xsd:string) AnnotationAssertion( "malignant phyllodes tumour"^^xsd:string) AnnotationAssertion( "malignant phyllodes tumour of breast"^^xsd:string) AnnotationAssertion( "phyllodes breast tumor"^^xsd:string) AnnotationAssertion( "phyllodes breast tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3016"^^xsd:string) AnnotationAssertion(rdfs:label "breast malignant phyllodes tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string) "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4670"^^xsd:string) AnnotationAssertion( "sarcoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3017"^^xsd:string) AnnotationAssertion(rdfs:label "breast sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (substance abuse) AnnotationAssertion(Annotation( "http://allpsych.com/disorders/substance/substanceabuse.html"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Substance_abuse"^^xsd:string) "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "drug misuse"^^xsd:string) AnnotationAssertion( "EFO:0011049"^^xsd:string) AnnotationAssertion( "MONDO:0002491"^^xsd:string) AnnotationAssertion( "NCI:C16522"^^xsd:string) AnnotationAssertion( "substance abuses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:302"^^xsd:string) AnnotationAssertion(rdfs:label "substance abuse"^^xsd:string) SubClassOf( ) # Class: (acute kidney failure) AnnotationAssertion(Annotation( "MESH:D058186"^^xsd:string) "Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions."^^xsd:string) AnnotationAssertion( "EFO:0009955"^^xsd:string) AnnotationAssertion( "MESH:D058186"^^xsd:string) AnnotationAssertion( "RDO:0001702"^^xsd:string) AnnotationAssertion( "Acute Kidney Failures"^^xsd:string) AnnotationAssertion( "Acute Kidney Injuries"^^xsd:string) AnnotationAssertion( "Acute Kidney Injury"^^xsd:string) AnnotationAssertion( "Acute Kidney Insufficiencies"^^xsd:string) AnnotationAssertion( "Acute Kidney Insufficiency"^^xsd:string) AnnotationAssertion( "Acute Renal Failure"^^xsd:string) AnnotationAssertion( "Acute Renal Failures"^^xsd:string) AnnotationAssertion( "Acute Renal Injuries"^^xsd:string) AnnotationAssertion( "Acute Renal Injury"^^xsd:string) AnnotationAssertion( "Acute Renal Insufficiencies"^^xsd:string) AnnotationAssertion( "Acute Renal Insufficiency"^^xsd:string) AnnotationAssertion( "post-operative acute kidney injury"^^xsd:string) AnnotationAssertion( "postoperative acute kidney injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3021"^^xsd:string) AnnotationAssertion(rdfs:label "acute kidney failure"^^xsd:string) SubClassOf( ) # Class: (prostatic acinar adenocarcinoma) AnnotationAssertion(Annotation( "NCI:C5596"^^xsd:string) "This is an invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000064"^^xsd:string) AnnotationAssertion( "NCI:C5596"^^xsd:string) AnnotationAssertion( "Acinar Prostate Adenocarcinoma, Foamy Gland Variant"^^xsd:string) AnnotationAssertion( "Prostate Acinar Adenocarcinoma, Lymphoepithelioma-Like Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3024"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic acinar adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (acinar cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/15215543/"^^xsd:string) "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000216"^^xsd:string) AnnotationAssertion( "EFO:1000458"^^xsd:string) AnnotationAssertion( "EFO:1000513"^^xsd:string) AnnotationAssertion( "GARD:8568"^^xsd:string) AnnotationAssertion( "ICDO:8550/3"^^xsd:string) AnnotationAssertion( "MESH:D018267"^^xsd:string) AnnotationAssertion( "NCI:C3768"^^xsd:string) AnnotationAssertion( "Acinar Cell Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Acinar Cell Adenocarcinomas"^^xsd:string) AnnotationAssertion( "Acinar Cell Carcinomas"^^xsd:string) AnnotationAssertion( "Acinic Cell Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Acinic Cell Adenocarcinomas"^^xsd:string) AnnotationAssertion( "Acinic Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Acinic Cell Carcinomas"^^xsd:string) AnnotationAssertion( "Acinic Cell Tumor"^^xsd:string) AnnotationAssertion( "acinar carcinoma"^^xsd:string) AnnotationAssertion( "acinar carcinomas"^^xsd:string) AnnotationAssertion( "acinic cell tumors"^^xsd:string) AnnotationAssertion( "serous acinar adenoma"^^xsd:string) AnnotationAssertion( "Parotid Gland Acinic Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Salivary Gland Acinic Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3025"^^xsd:string) AnnotationAssertion(rdfs:label "acinar cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon mucinous adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7966"^^xsd:string) AnnotationAssertion( "RDO:9004069"^^xsd:string) AnnotationAssertion( "colonic mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3029"^^xsd:string) AnnotationAssertion(rdfs:label "colon mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (substance-related disorder) AnnotationAssertion(Annotation( "https://www.psychologytoday.com/us/conditions/substance-related-disorders"^^xsd:string) "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606581"^^xsd:string) AnnotationAssertion( "psychiatric toxicity"^^xsd:string) AnnotationAssertion( "EFO:0011059"^^xsd:string) AnnotationAssertion( "MESH:D019966"^^xsd:string) AnnotationAssertion( "MONDO:0002494"^^xsd:string) AnnotationAssertion( "NCI:C92203"^^xsd:string) AnnotationAssertion( "PSAB"^^xsd:string) AnnotationAssertion( "organic mental disorders, substance induced"^^xsd:string) AnnotationAssertion( "polysubstance abuse, susceptibility to"^^xsd:string) AnnotationAssertion( "substance addiction"^^xsd:string) AnnotationAssertion( "substance use disorder"^^xsd:string) AnnotationAssertion( "substance use disorders"^^xsd:string) AnnotationAssertion( "substance-related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Dopamine receptor d2, reduced brain density of"^^xsd:string) AnnotationAssertion( "DOID:303"^^xsd:string) AnnotationAssertion(rdfs:label "substance-related disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinous adenocarcinoma) AnnotationAssertion(Annotation( "http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm"^^xsd:string) Annotation( "http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000197"^^xsd:string) AnnotationAssertion( "EFO:1000387"^^xsd:string) AnnotationAssertion( "ICDO:8480/3"^^xsd:string) AnnotationAssertion( "MESH:D002288"^^xsd:string) AnnotationAssertion( "NCI:C26712"^^xsd:string) AnnotationAssertion( "NCI:C27379"^^xsd:string) AnnotationAssertion( "NCI:C27825"^^xsd:string) AnnotationAssertion( "Colloid Carcinoma"^^xsd:string) AnnotationAssertion( "Mucinous Adenocarcinomas"^^xsd:string) AnnotationAssertion( "Mucinous Carcinoma"^^xsd:string) AnnotationAssertion( "colloid carcinomas"^^xsd:string) AnnotationAssertion( "mucin-producing adenocarcinoma"^^xsd:string) AnnotationAssertion( "mucin-secreting adenocarcinoma"^^xsd:string) AnnotationAssertion( "mucin-secreting carcinoma"^^xsd:string) AnnotationAssertion( "mucinous carcinomas"^^xsd:string) AnnotationAssertion( "mucous carcinoma"^^xsd:string) AnnotationAssertion( "pseudomyxoma peritonei with unknown primary site"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3030"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon signet ring adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004262"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7967"^^xsd:string) "Colonic Signet Ring adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3033"^^xsd:string) AnnotationAssertion(rdfs:label "colon signet ring adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (submucosal invasive colon adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38760"^^xsd:string) AnnotationAssertion( "RDO:9004263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3038"^^xsd:string) AnnotationAssertion(rdfs:label "submucosal invasive colon adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (cecum adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A cecum carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000020"^^xsd:string) AnnotationAssertion( "EFO:1000153"^^xsd:string) AnnotationAssertion( "NCI:C5543"^^xsd:string) AnnotationAssertion( "RDO:9004284"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5543"^^xsd:string) "Cecal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of cecum"^^xsd:string) AnnotationAssertion( "DOID:3039"^^xsd:string) AnnotationAssertion(rdfs:label "cecum adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (allergic contact dermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergic_contact_dermatitis"^^xsd:string) "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000668"^^xsd:string) AnnotationAssertion( "ICD10CM:L23"^^xsd:string) AnnotationAssertion( "ICD10CM:L23.9"^^xsd:string) AnnotationAssertion( "MESH:D017449"^^xsd:string) AnnotationAssertion( "NCI:C26998"^^xsd:string) AnnotationAssertion( "Allergic Contact Dermatitides"^^xsd:string) AnnotationAssertion( "Allergic Eczematous Dermatitides"^^xsd:string) AnnotationAssertion( "Allergic Eczematous Dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3042"^^xsd:string) AnnotationAssertion(rdfs:label "allergic contact dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (food allergy) AnnotationAssertion(Annotation( "http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx"^^xsd:string) "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001890"^^xsd:string) AnnotationAssertion( "MESH:D005512"^^xsd:string) AnnotationAssertion( "NCI:C172304"^^xsd:string) AnnotationAssertion( "food allergies"^^xsd:string) AnnotationAssertion( "food hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3044"^^xsd:string) AnnotationAssertion(rdfs:label "food allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wissler-Fanconi syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Wissler%27s_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098720/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8150635"^^xsd:string) "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007547"^^xsd:string) AnnotationAssertion( "MESH:D014924"^^xsd:string) AnnotationAssertion( "Wissler syndrome"^^xsd:string) AnnotationAssertion( "Wissler's subsepsis allergica"^^xsd:string) AnnotationAssertion( "Wissler's syndrome"^^xsd:string) AnnotationAssertion( "Wisslers syndrome"^^xsd:string) AnnotationAssertion( "subsepsis allergica"^^xsd:string) AnnotationAssertion( "subsepsis hyperergica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3047"^^xsd:string) AnnotationAssertion(rdfs:label "Wissler-Fanconi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Churg-Strauss syndrome) AnnotationAssertion(Annotation( "http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855"^^xsd:string) "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007208"^^xsd:string) AnnotationAssertion( "ICD10CM:M30.1"^^xsd:string) AnnotationAssertion( "MESH:D015267"^^xsd:string) AnnotationAssertion( "NCI:C34481"^^xsd:string) AnnotationAssertion( "Allergic Angiitis"^^xsd:string) AnnotationAssertion( "Allergic Angiitis and Granulomatosis"^^xsd:string) AnnotationAssertion( "Allergic Granulomatoses"^^xsd:string) AnnotationAssertion( "Allergic Granulomatosis"^^xsd:string) AnnotationAssertion( "Allergic Granulomatous Angiitides"^^xsd:string) AnnotationAssertion( "Allergic Granulomatous Angiitis"^^xsd:string) AnnotationAssertion( "Allergic Granulomatous and Angiitis"^^xsd:string) AnnotationAssertion( "Churg-Strauss Vasculitis"^^xsd:string) AnnotationAssertion( "Eosinophilic Granulomatous Vasculitides"^^xsd:string) AnnotationAssertion( "allergic angiitides"^^xsd:string) AnnotationAssertion( "allergic granulomatosis angiitis"^^xsd:string) AnnotationAssertion( "eosinophilic granulomatous vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3049"^^xsd:string) AnnotationAssertion(rdfs:label "Churg-Strauss syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000313"^^xsd:string) AnnotationAssertion( "EFO:0006772"^^xsd:string) AnnotationAssertion( "ICDO:8010/3"^^xsd:string) AnnotationAssertion( "MESH:D002277"^^xsd:string) AnnotationAssertion( "NCI:C2916"^^xsd:string) AnnotationAssertion( "NCI:C3709"^^xsd:string) AnnotationAssertion( "Carcinomas"^^xsd:string) AnnotationAssertion( "Carcinomatoses"^^xsd:string) AnnotationAssertion( "Carcinomatosis"^^xsd:string) AnnotationAssertion( "Epithelioma"^^xsd:string) AnnotationAssertion( "Epitheliomas"^^xsd:string) AnnotationAssertion( "Malignant Epithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Epithelial Neoplasms"^^xsd:string) AnnotationAssertion( "Malignant Epithelial Tumor"^^xsd:string) AnnotationAssertion( "Malignant Epithelial Tumors"^^xsd:string) AnnotationAssertion( "anaplastic carcinoma"^^xsd:string) AnnotationAssertion( "anaplastic carcinomas"^^xsd:string) AnnotationAssertion( "epithelial cancer"^^xsd:string) AnnotationAssertion( "malignant epithelioma"^^xsd:string) AnnotationAssertion( "undifferentiated carcinoma"^^xsd:string) AnnotationAssertion( "undifferentiated carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:305"^^xsd:string) AnnotationAssertion(rdfs:label "carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Balkan nephropathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy"^^xsd:string) "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. (DO)"^^xsd:string) AnnotationAssertion( "MIM:124100"^^xsd:string) AnnotationAssertion( "EFO:0007164"^^xsd:string) AnnotationAssertion( "ICD10CM:N15.0"^^xsd:string) AnnotationAssertion( "MESH:D001449"^^xsd:string) AnnotationAssertion( "Balkan Endemic Nephropathy"^^xsd:string) AnnotationAssertion( "DEFN"^^xsd:string) AnnotationAssertion( "Danubian Endemic Familial Nephropathy"^^xsd:string) AnnotationAssertion( "nephropathia epidemica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3052"^^xsd:string) AnnotationAssertion(rdfs:label "Balkan nephropathy"^^xsd:string) SubClassOf( ) # Class: (paratyphoid fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Paratyphoid_fever"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007420"^^xsd:string) AnnotationAssertion( "ICD10CM:A01.1"^^xsd:string) AnnotationAssertion( "ICD10CM:A01.2"^^xsd:string) AnnotationAssertion( "ICD10CM:A01.3"^^xsd:string) AnnotationAssertion( "ICD10CM:A01.4"^^xsd:string) AnnotationAssertion( "ICD9CM:002.1"^^xsd:string) AnnotationAssertion( "ICD9CM:002.2"^^xsd:string) AnnotationAssertion( "ICD9CM:002.3"^^xsd:string) AnnotationAssertion( "ICD9CM:002.9"^^xsd:string) AnnotationAssertion( "MESH:D010284"^^xsd:string) AnnotationAssertion( "NCI:C34894"^^xsd:string) AnnotationAssertion( "NCI:C34895"^^xsd:string) AnnotationAssertion( "NCI:C34896"^^xsd:string) AnnotationAssertion( "NCI:C34897"^^xsd:string) AnnotationAssertion( "Paratyphoid Fevers"^^xsd:string) AnnotationAssertion( "paratyphoid"^^xsd:string) AnnotationAssertion( "paratyphoid a"^^xsd:string) AnnotationAssertion( "paratyphoid b"^^xsd:string) AnnotationAssertion( "paratyphoid c"^^xsd:string) AnnotationAssertion( "paratyphoid fever A"^^xsd:string) AnnotationAssertion( "paratyphoid fever B"^^xsd:string) AnnotationAssertion( "paratyphoid fever C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3055"^^xsd:string) AnnotationAssertion(rdfs:label "paratyphoid fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glioblastoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Glioblastoma_multiforme"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20129251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23029035"^^xsd:string) "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000519"^^xsd:string) AnnotationAssertion( "GARD:2491"^^xsd:string) AnnotationAssertion( "ICDO:9440/3"^^xsd:string) AnnotationAssertion( "MESH:D005909"^^xsd:string) AnnotationAssertion( "NCI:C129295"^^xsd:string) AnnotationAssertion( "NCI:C21938"^^xsd:string) AnnotationAssertion( "NCI:C3058"^^xsd:string) AnnotationAssertion( "NCI:C9094"^^xsd:string) AnnotationAssertion( "GBM"^^xsd:string) AnnotationAssertion( "adult glioblastoma multiforme"^^xsd:string) AnnotationAssertion( "glioblastoma multiforme"^^xsd:string) AnnotationAssertion( "glioblastomas"^^xsd:string) AnnotationAssertion( "grade IV adult astrocytic tumor"^^xsd:string) AnnotationAssertion( "grade IV astrocytoma"^^xsd:string) AnnotationAssertion( "grade IV astrocytomas"^^xsd:string) AnnotationAssertion( "primary glioblastoma multiforme"^^xsd:string) AnnotationAssertion( "spongioblastoma multiforme"^^xsd:string) AnnotationAssertion( "glioblastoma multiforme, somatic"^^xsd:string) AnnotationAssertion( "glioblastoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3068"^^xsd:string) AnnotationAssertion(rdfs:label "glioblastoma"^^xsd:string) SubClassOf( ) # Class: (malignant astrocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Astrocytoma"^^xsd:string) Annotation( "http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors"^^xsd:string) "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000271"^^xsd:string) AnnotationAssertion( "EFO:0000272"^^xsd:string) AnnotationAssertion( "EFO:0002500"^^xsd:string) AnnotationAssertion( "MESH:D001254"^^xsd:string) AnnotationAssertion( "MONDO:0021636"^^xsd:string) AnnotationAssertion( "NCI:C4951"^^xsd:string) AnnotationAssertion( "NCI:C60436"^^xsd:string) AnnotationAssertion( "NCI:C60781"^^xsd:string) AnnotationAssertion( "NCI:C6958"^^xsd:string) AnnotationAssertion( "astrocytic glioma"^^xsd:string) AnnotationAssertion( "astrocytic gliomas"^^xsd:string) AnnotationAssertion( "astrocytic tumor"^^xsd:string) AnnotationAssertion( "astrocytoma"^^xsd:string) AnnotationAssertion( "astrocytoma, no ICD-O subtype"^^xsd:string) AnnotationAssertion( "astrocytomas"^^xsd:string) AnnotationAssertion( "astroglioma"^^xsd:string) AnnotationAssertion( "astrogliomas"^^xsd:string) AnnotationAssertion( "Childhood Cerebral Astrocytoma"^^xsd:string) AnnotationAssertion( "anaplastic oligoastrocytoma"^^xsd:string) AnnotationAssertion( "astrocytic brain tumor"^^xsd:string) AnnotationAssertion( "astrocytoma of brain"^^xsd:string) AnnotationAssertion( "astrocytoma of cerebrum"^^xsd:string) AnnotationAssertion( "cerebral astrocytoma"^^xsd:string) AnnotationAssertion( "cerebral astrocytomas"^^xsd:string) AnnotationAssertion( "childhood cerebral astrocytomas"^^xsd:string) AnnotationAssertion( "grade I astrocytoma"^^xsd:string) AnnotationAssertion( "grade I astrocytomas"^^xsd:string) AnnotationAssertion( "grade II astrocytoma"^^xsd:string) AnnotationAssertion( "grade II astrocytomas"^^xsd:string) AnnotationAssertion( "intracranial astrocytoma"^^xsd:string) AnnotationAssertion( "intracranial astrocytomas"^^xsd:string) AnnotationAssertion( "mixed oligoastrocytoma"^^xsd:string) AnnotationAssertion( "mixed oligoastrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3069"^^xsd:string) AnnotationAssertion(rdfs:label "malignant astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (high grade glioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malignant_glioma"^^xsd:string) "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137800"^^xsd:string) AnnotationAssertion( "MIM:607248"^^xsd:string) AnnotationAssertion( "MIM:613028"^^xsd:string) AnnotationAssertion( "MIM:613029"^^xsd:string) AnnotationAssertion( "MIM:613030"^^xsd:string) AnnotationAssertion( "MIM:613031"^^xsd:string) AnnotationAssertion( "MIM:613032"^^xsd:string) AnnotationAssertion( "MIM:613033"^^xsd:string) AnnotationAssertion( "MIM:616568"^^xsd:string) AnnotationAssertion( "GLM"^^xsd:string) AnnotationAssertion( "EFO:0000520"^^xsd:string) AnnotationAssertion( "EFO:0005543"^^xsd:string) AnnotationAssertion( "ICDO:9380/3"^^xsd:string) AnnotationAssertion( "MESH:D005910"^^xsd:string) AnnotationAssertion( "MIM:PS137800"^^xsd:string) AnnotationAssertion( "NCI:C129297"^^xsd:string) AnnotationAssertion( "NCI:C3059"^^xsd:string) AnnotationAssertion( "NCI:C4822"^^xsd:string) AnnotationAssertion( "NCI:C64069"^^xsd:string) AnnotationAssertion( "ORDO:182067"^^xsd:string) AnnotationAssertion( "glial cell tumor"^^xsd:string) AnnotationAssertion( "glial cell tumors"^^xsd:string) AnnotationAssertion( "glioma"^^xsd:string) AnnotationAssertion( "gliomas"^^xsd:string) AnnotationAssertion( "malignant glioma"^^xsd:string) AnnotationAssertion( "malignant gliomas"^^xsd:string) AnnotationAssertion( "malignant neuroglial tumor"^^xsd:string) AnnotationAssertion( "neuroglial tumor"^^xsd:string) AnnotationAssertion( "ASTROCYTOMA"^^xsd:string) AnnotationAssertion( "BRAINSTEM GLIOMA"^^xsd:string) AnnotationAssertion( "EPENDYMOMA"^^xsd:string) AnnotationAssertion( "oligodendroglioma"^^xsd:string) AnnotationAssertion( "rosette-forming glioneuronal tumor"^^xsd:string) AnnotationAssertion( "subependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GLM1"^^xsd:string) AnnotationAssertion( "GLM2"^^xsd:string) AnnotationAssertion( "GLM3"^^xsd:string) AnnotationAssertion( "GLM4"^^xsd:string) AnnotationAssertion( "GLM5"^^xsd:string) AnnotationAssertion( "GLM6"^^xsd:string) AnnotationAssertion( "GLM7"^^xsd:string) AnnotationAssertion( "GLM8"^^xsd:string) AnnotationAssertion( "GLM9"^^xsd:string) AnnotationAssertion( "glioma susceptibility 1"^^xsd:string) AnnotationAssertion( "glioma susceptibility 2"^^xsd:string) AnnotationAssertion( "glioma susceptibility 3"^^xsd:string) AnnotationAssertion( "glioma susceptibility 4"^^xsd:string) AnnotationAssertion( "glioma susceptibility 5"^^xsd:string) AnnotationAssertion( "glioma susceptibility 6"^^xsd:string) AnnotationAssertion( "glioma susceptibility 7"^^xsd:string) AnnotationAssertion( "glioma susceptibility 8"^^xsd:string) AnnotationAssertion( "glioma susceptibility 9"^^xsd:string) AnnotationAssertion( "DOID:3070"^^xsd:string) AnnotationAssertion(rdfs:label "high grade glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gliosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gliosarcoma"^^xsd:string) Annotation( "https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma"^^xsd:string) "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001465"^^xsd:string) AnnotationAssertion( "GARD:5653"^^xsd:string) AnnotationAssertion( "ICDO:9442/3"^^xsd:string) AnnotationAssertion( "MESH:D018316"^^xsd:string) AnnotationAssertion( "NCI:C3796"^^xsd:string) AnnotationAssertion( "Glioblastoma with Sarcomatous Component"^^xsd:string) AnnotationAssertion( "Gliosarcomas"^^xsd:string) AnnotationAssertion( "Sarcomatous Glioma"^^xsd:string) AnnotationAssertion( "Sarcomatous Gliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3071"^^xsd:string) AnnotationAssertion(rdfs:label "gliosarcoma"^^xsd:string) SubClassOf( ) # Class: (brain glioblastoma multiforme) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Glioblastoma"^^xsd:string) "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000515"^^xsd:string) AnnotationAssertion( "EFO:0006545"^^xsd:string) AnnotationAssertion( "NCI:C4642"^^xsd:string) AnnotationAssertion( "brain glioblastoma"^^xsd:string) AnnotationAssertion( "glioblastoma multiforme of brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3073"^^xsd:string) AnnotationAssertion(rdfs:label "brain glioblastoma multiforme"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (giant cell glioblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Giant-cell_glioblastoma"^^xsd:string) Annotation( "http://neuro-oncology.oxfordjournals.org/content/11/6/833.full"^^xsd:string) "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9441/3"^^xsd:string) AnnotationAssertion( "NCI:C4325"^^xsd:string) AnnotationAssertion( "giant cell glioblastomas"^^xsd:string) AnnotationAssertion( "monstrocellular sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3074"^^xsd:string) AnnotationAssertion(rdfs:label "giant cell glioblastoma"^^xsd:string) SubClassOf( ) # Class: (adult astrocytic tumor) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049"^^xsd:string) "A malignant astrocytoma that occurs during adulthood. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C7049"^^xsd:string) AnnotationAssertion( "adult astrocytic tumour"^^xsd:string) AnnotationAssertion( "adult astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3076"^^xsd:string) AnnotationAssertion(rdfs:label "adult astrocytic tumor"^^xsd:string) SubClassOf( ) # Class: (anaplastic astrocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anaplastic_astrocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45591"^^xsd:string) "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002499"^^xsd:string) AnnotationAssertion( "GARD:5860"^^xsd:string) AnnotationAssertion( "MONDO:0016684"^^xsd:string) AnnotationAssertion( "NCI:C129292"^^xsd:string) AnnotationAssertion( "NCI:C9477"^^xsd:string) AnnotationAssertion( "ORDO:251589"^^xsd:string) AnnotationAssertion( "anaplastic astrocytomas"^^xsd:string) AnnotationAssertion( "grade III astrocytic tumor"^^xsd:string) AnnotationAssertion( "grade III astrocytoma"^^xsd:string) AnnotationAssertion( "grade III astrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3078"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (childhood astrocytic tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9022"^^xsd:string) AnnotationAssertion( "juvenile astrocytoma"^^xsd:string) AnnotationAssertion( "pediatric astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3079"^^xsd:string) AnnotationAssertion(rdfs:label "childhood astrocytic tumor"^^xsd:string) SubClassOf( ) # Class: (early myoclonic encephalopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "Early Childhood Epilepsy, Myoclonic"^^xsd:string) AnnotationAssertion( "Epileptic seizures, myoclonic"^^xsd:string) AnnotationAssertion( "Infantile Myoclonic Epilepsies"^^xsd:string) AnnotationAssertion( "Infantile Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Infantile Severe Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "benign infantile myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "Epilepsy, generalized myoclonic, with photosensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:308"^^xsd:string) AnnotationAssertion(rdfs:label "early myoclonic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cystic lymphangioma) AnnotationAssertion(Annotation( "MESH:D018191"^^xsd:string) "A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin."^^xsd:string) AnnotationAssertion( "EFO:1000888"^^xsd:string) AnnotationAssertion( "GARD:6234"^^xsd:string) AnnotationAssertion( "ICDO:9173/0"^^xsd:string) AnnotationAssertion( "MESH:D018191"^^xsd:string) AnnotationAssertion( "MONDO:0009761"^^xsd:string) AnnotationAssertion( "NCI:C3724"^^xsd:string) AnnotationAssertion( "ORDO:79486"^^xsd:string) AnnotationAssertion( "Cystic Hygroma"^^xsd:string) AnnotationAssertion( "Cystic Hygroma Colli"^^xsd:string) AnnotationAssertion( "Cystic Hygromas"^^xsd:string) AnnotationAssertion( "Cystic Lymphangiomas"^^xsd:string) AnnotationAssertion( "Hygroma"^^xsd:string) AnnotationAssertion( "Hygromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3081"^^xsd:string) AnnotationAssertion(rdfs:label "cystic lymphangioma"^^xsd:string) SubClassOf( ) # Class: (interstitial lung disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/"^^xsd:string) "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004244"^^xsd:string) AnnotationAssertion( "EFO:0009624"^^xsd:string) AnnotationAssertion( "GARD:13336"^^xsd:string) AnnotationAssertion( "ICD10CM:J84.9"^^xsd:string) AnnotationAssertion( "MESH:D017563"^^xsd:string) AnnotationAssertion( "MIM:PS619611"^^xsd:string) AnnotationAssertion( "NCI:C164315"^^xsd:string) AnnotationAssertion( "ILD"^^xsd:string) AnnotationAssertion( "alveolitis"^^xsd:string) AnnotationAssertion( "diffuse parenchymal lung diseases"^^xsd:string) AnnotationAssertion( "interstitial lung diseases"^^xsd:string) AnnotationAssertion( "interstitial pneumonia"^^xsd:string) AnnotationAssertion( "interstitial pneumonias"^^xsd:string) AnnotationAssertion( "interstitial pneumonitides"^^xsd:string) AnnotationAssertion( "interstitial pneumonitis"^^xsd:string) AnnotationAssertion( "pulmonary alveolitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3082"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial lung disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic obstructive pulmonary disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28513453/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32745458/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32800196/"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health-topics/copd"^^xsd:string) "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005540"^^xsd:string) AnnotationAssertion( "MIM:606963"^^xsd:string) AnnotationAssertion( "EFO:0000341"^^xsd:string) AnnotationAssertion( "ICD10CM:J44.9"^^xsd:string) AnnotationAssertion( "MESH:C564641"^^xsd:string) AnnotationAssertion( "MESH:D029424"^^xsd:string) AnnotationAssertion( "NCI:C3199"^^xsd:string) AnnotationAssertion( "COAD"^^xsd:string) AnnotationAssertion( "COLD"^^xsd:string) AnnotationAssertion( "COPD"^^xsd:string) AnnotationAssertion( "Chronic Airflow Obstruction"^^xsd:string) AnnotationAssertion( "Chronic Airflow Obstructions"^^xsd:string) AnnotationAssertion( "Chronic Obstructive Airway Disease"^^xsd:string) AnnotationAssertion( "Chronic Obstructive Lung Disease"^^xsd:string) AnnotationAssertion( "CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED"^^xsd:string) AnnotationAssertion( "COPD, severe early-onset"^^xsd:string) AnnotationAssertion( "Chronic Obstructive Pulmonary Disease, Severe Early-Onset"^^xsd:string) AnnotationAssertion( "PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANTICHYMOTRYPSIN BONN 1"^^xsd:string) AnnotationAssertion( "HMOX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "chronic obstructive pulmonary disease, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:3083"^^xsd:string) AnnotationAssertion(rdfs:label "chronic obstructive pulmonary disease"^^xsd:string) SubClassOf( ) # Class: (gingival overgrowth) AnnotationAssertion(Annotation( "MESH:D019214"^^xsd:string) "Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)"^^xsd:string) AnnotationAssertion( "ICD10CM:K06.1"^^xsd:string) AnnotationAssertion( "MESH:D019214"^^xsd:string) AnnotationAssertion( "gingival enlargement"^^xsd:string) AnnotationAssertion( "gingival overgrowths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3086"^^xsd:string) AnnotationAssertion(rdfs:label "gingival overgrowth"^^xsd:string) SubClassOf( ) # Class: (gingivitis) AnnotationAssertion(Annotation( "MESH:D005891"^^xsd:string) "Inflammation of gum tissue (GINGIVA) without loss of connective tissue."^^xsd:string) AnnotationAssertion( "ICD10CM:K05.0"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.1"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.10"^^xsd:string) AnnotationAssertion( "ICD9CM:523.0"^^xsd:string) AnnotationAssertion( "ICD9CM:523.1"^^xsd:string) AnnotationAssertion( "MESH:D005891"^^xsd:string) AnnotationAssertion( "NCI:C34474"^^xsd:string) AnnotationAssertion( "NCI:C34636"^^xsd:string) AnnotationAssertion( "Gingivitides"^^xsd:string) AnnotationAssertion( "acute gingivitis"^^xsd:string) AnnotationAssertion( "chronic gingivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3087"^^xsd:string) AnnotationAssertion(rdfs:label "gingivitis"^^xsd:string) SubClassOf( ) # Class: (granulomatous orchitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27162"^^xsd:string) AnnotationAssertion( "RDO:9003856"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27162"^^xsd:string) "Non-Specific Granulomatous Orchitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3089"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous orchitis"^^xsd:string) SubClassOf( ) # Class: (Acinetobacter infectious disease) AnnotationAssertion(Annotation( "https://www.cdc.gov/HAI/organisms/acinetobacter.html"^^xsd:string) "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000792"^^xsd:string) AnnotationAssertion( "MESH:D000151"^^xsd:string) AnnotationAssertion( "Acinetobacter infection"^^xsd:string) AnnotationAssertion( "Acinetobacter infections"^^xsd:string) AnnotationAssertion( "Mimae Infection"^^xsd:string) AnnotationAssertion( "Mimae Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3091"^^xsd:string) AnnotationAssertion(rdfs:label "Acinetobacter infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nervous system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nervous_system_disease"^^xsd:string) "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007392"^^xsd:string) AnnotationAssertion( "ICD9CM:192.9"^^xsd:string) AnnotationAssertion( "NCI:C35562"^^xsd:string) AnnotationAssertion( "malignant neoplasm of nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3093"^^xsd:string) AnnotationAssertion(rdfs:label "nervous system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (germ cell and embryonal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell"^^xsd:string) "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "embryonal and mixed cancer"^^xsd:string) AnnotationAssertion( "embryonal cancer"^^xsd:string) AnnotationAssertion( "embryonal cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3095"^^xsd:string) AnnotationAssertion(rdfs:label "germ cell and embryonal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (stenosis of lacrimal sac) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.57"^^xsd:string) AnnotationAssertion( "ICD9CM:375.54"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3096"^^xsd:string) AnnotationAssertion(rdfs:label "stenosis of lacrimal sac"^^xsd:string) SubClassOf( ) # Class: (small cell sarcoma) AnnotationAssertion(Annotation( "MESH:D018228"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36202860/"^^xsd:string) "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001184"^^xsd:string) AnnotationAssertion( "ICDO:8803/3"^^xsd:string) AnnotationAssertion( "MESH:D018228"^^xsd:string) AnnotationAssertion( "NCI:C3746"^^xsd:string) AnnotationAssertion( "small cell sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3098"^^xsd:string) AnnotationAssertion(rdfs:label "small cell sarcoma"^^xsd:string) SubClassOf( ) # Class: (MERRF Syndrome) AnnotationAssertion(Annotation( "MESH:D017243"^^xsd:string) "A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)"^^xsd:string) AnnotationAssertion( "MIM:545000"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.42"^^xsd:string) AnnotationAssertion( "MESH:D017243"^^xsd:string) AnnotationAssertion( "NCI:C84889"^^xsd:string) AnnotationAssertion( "Fukuhara Disease"^^xsd:string) AnnotationAssertion( "Fukuhara Syndrome"^^xsd:string) AnnotationAssertion( "MERRF"^^xsd:string) AnnotationAssertion( "Merff Syndrome"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy Associated with Ragged Red Fibers"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy and Ragged Red Fibers"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy with Ragged Red Fibers"^^xsd:string) AnnotationAssertion( "Myoclonus with Epilepsy with Ragged Red Fibers"^^xsd:string) AnnotationAssertion( "Myoencephalopathy Ragged Red Fiber Disease"^^xsd:string) AnnotationAssertion( "myoclonic epilepsy - ragged red fibers"^^xsd:string) AnnotationAssertion( "myoclonus epilepsy and ragged red fibers"^^xsd:string) AnnotationAssertion( "myoclonus with epilepsy and with ragged red fibers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:310"^^xsd:string) AnnotationAssertion(rdfs:label "MERRF Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (thoracic outlet syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome"^^xsd:string) "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007507"^^xsd:string) AnnotationAssertion( "GARD:7759"^^xsd:string) AnnotationAssertion( "MESH:D013901"^^xsd:string) AnnotationAssertion( "MONDO:0005979"^^xsd:string) AnnotationAssertion( "NCI:C85188"^^xsd:string) AnnotationAssertion( "ORDO:97330"^^xsd:string) AnnotationAssertion( "Costoclavicular Syndrome"^^xsd:string) AnnotationAssertion( "Neurogenic Thoracic Outlet Syndrome"^^xsd:string) AnnotationAssertion( "Scalenus Anticus Syndrome"^^xsd:string) AnnotationAssertion( "Superior Thoracic Aperture Syndrome"^^xsd:string) AnnotationAssertion( "TOS - thoracic outlet syndrome"^^xsd:string) AnnotationAssertion( "Thoracic Outlet Nerve Compression Syndrome"^^xsd:string) AnnotationAssertion( "Thoracic Outlet Neurologic Syndrome"^^xsd:string) AnnotationAssertion( "aperture syndrome, thoracic outlet"^^xsd:string) AnnotationAssertion( "arterial thoracic outlet syndrome"^^xsd:string) AnnotationAssertion( "costoclavicular syndromes"^^xsd:string) AnnotationAssertion( "thoracic outlet neurovascular syndrome"^^xsd:string) AnnotationAssertion( "thoracic outlet syndromes"^^xsd:string) AnnotationAssertion( "venous thoracic outlet syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3103"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic outlet syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (toxascariasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Toxascaris_leonina"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007515"^^xsd:string) AnnotationAssertion( "MESH:D017227"^^xsd:string) AnnotationAssertion( "MONDO:0005987"^^xsd:string) AnnotationAssertion( "toxascariases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3107"^^xsd:string) AnnotationAssertion(rdfs:label "toxascariasis"^^xsd:string) SubClassOf( ) # Class: (ascaridiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18367882"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007155"^^xsd:string) AnnotationAssertion( "MESH:D001198"^^xsd:string) AnnotationAssertion( "ascaridiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3108"^^xsd:string) AnnotationAssertion(rdfs:label "ascaridiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (idiopathic CD4-positive T-lymphocytopenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia"^^xsd:string) "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007322"^^xsd:string) AnnotationAssertion( "MESH:D018344"^^xsd:string) AnnotationAssertion( "NCI:C84780"^^xsd:string) AnnotationAssertion( "CD4+ T lymphocytopenia"^^xsd:string) AnnotationAssertion( "CD4+ T-lymphocytopenias"^^xsd:string) AnnotationAssertion( "ICL"^^xsd:string) AnnotationAssertion( "idiopathic CD4 lymphopenia"^^xsd:string) AnnotationAssertion( "idiopathic CD4+ T lymphocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3109"^^xsd:string) AnnotationAssertion(rdfs:label "idiopathic CD4-positive T-lymphocytopenia"^^xsd:string) SubClassOf( ) # Class: (papillary cystadenocarcinoma) AnnotationAssertion(Annotation( "http://www.sciencedirect.com/science/article/pii/S1741940905000841"^^xsd:string) "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000639"^^xsd:string) AnnotationAssertion( "GARD:10162"^^xsd:string) AnnotationAssertion( "ICDO:8450/3"^^xsd:string) AnnotationAssertion( "MESH:D018283"^^xsd:string) AnnotationAssertion( "NCI:C3777"^^xsd:string) AnnotationAssertion( "papillary cystadenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3110"^^xsd:string) AnnotationAssertion(rdfs:label "papillary cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (cystadenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cystadenocarcinoma"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006387"^^xsd:string) AnnotationAssertion( "ICDO:8440/3"^^xsd:string) AnnotationAssertion( "MESH:D003536"^^xsd:string) AnnotationAssertion( "NCI:C2971"^^xsd:string) AnnotationAssertion( "cystadenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3111"^^xsd:string) AnnotationAssertion(rdfs:label "cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (papillary adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Papillary_adenocarcinoma"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8260/3"^^xsd:string) AnnotationAssertion( "MESH:D000231"^^xsd:string) AnnotationAssertion( "NCI:C2853"^^xsd:string) AnnotationAssertion( "NCI:C7438"^^xsd:string) AnnotationAssertion( "infiltrating and papillary adenocarcinoma"^^xsd:string) AnnotationAssertion( "infiltrating papillary adenocarcinoma"^^xsd:string) AnnotationAssertion( "papillary adenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3112"^^xsd:string) AnnotationAssertion(rdfs:label "papillary adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (papillary carcinoma) AnnotationAssertion(Annotation( "http://breastcancer.about.com/od/types/p/papillary_ca.htm"^^xsd:string) "A carcinoma that is derives_from epithelial cells with finger like projections. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000646"^^xsd:string) AnnotationAssertion( "ICDO:8050/3"^^xsd:string) AnnotationAssertion( "MESH:D002291"^^xsd:string) AnnotationAssertion( "NCI:C2927"^^xsd:string) AnnotationAssertion( "papillary carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3113"^^xsd:string) AnnotationAssertion(rdfs:label "papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (serous cystadenocarcinoma) AnnotationAssertion(Annotation( "http://ukpmc.ac.uk/abstract/MED/16025006"^^xsd:string) "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003825"^^xsd:string) AnnotationAssertion( "MESH:D018284"^^xsd:string) AnnotationAssertion( "NCI:C3778"^^xsd:string) AnnotationAssertion( "NCI:C40101"^^xsd:string) AnnotationAssertion( "serous adenocarcinoma"^^xsd:string) AnnotationAssertion( "serous carcinoma"^^xsd:string) AnnotationAssertion( "serous cystadenocarcinomas"^^xsd:string) AnnotationAssertion( "serous papillary cystadenocarcinoma ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3114"^^xsd:string) AnnotationAssertion(rdfs:label "serous cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (kidney benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000111"^^xsd:string) AnnotationAssertion( "EFO:1000409"^^xsd:string) AnnotationAssertion( "EFO:1000507"^^xsd:string) AnnotationAssertion( "NCI:C7514"^^xsd:string) AnnotationAssertion( "renal and ureteral tumor"^^xsd:string) AnnotationAssertion( "Ossifying Renal Tumor of Infancy"^^xsd:string) AnnotationAssertion( "Renal Angiomyoadenomatous Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3116"^^xsd:string) AnnotationAssertion(rdfs:label "kidney benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatobiliary benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hepatobiliary_system"^^xsd:string) "A gastrointestinal system benign neoplasm located_in the hepatobiliary system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008550"^^xsd:string) AnnotationAssertion( "NCI:C8614"^^xsd:string) AnnotationAssertion( "hepatobiliary tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3117"^^xsd:string) AnnotationAssertion(rdfs:label "hepatobiliary benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatobiliary disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hepato-biliary_diseases"^^xsd:string) "A gastrointestinal system disease that is located_in the liver and/or biliary tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010284"^^xsd:string) AnnotationAssertion( "NCI:C3959"^^xsd:string) AnnotationAssertion( "RDO:9003386"^^xsd:string) AnnotationAssertion( "liver and biliary tract disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3118"^^xsd:string) AnnotationAssertion(rdfs:label "hepatobiliary disease"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string) "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C26.9"^^xsd:string) AnnotationAssertion( "ICD9CM:239.0"^^xsd:string) AnnotationAssertion( "NCI:C3052"^^xsd:string) AnnotationAssertion( "NCI:C4890"^^xsd:string) AnnotationAssertion( "GI tumor"^^xsd:string) AnnotationAssertion( "cancer of digestive system"^^xsd:string) AnnotationAssertion( "cancer of gastrointestinal tract"^^xsd:string) AnnotationAssertion( "cancer of the digestive system"^^xsd:string) AnnotationAssertion( "cancer of the gastrointestinal tract"^^xsd:string) AnnotationAssertion( "digestive system cancer"^^xsd:string) AnnotationAssertion( "digestive system cancers"^^xsd:string) AnnotationAssertion( "gastrointestinal tract cancer"^^xsd:string) AnnotationAssertion( "gastrointestinal tract cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:3119"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tenosynovitis of foot and ankle) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:727.06"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:312"^^xsd:string) AnnotationAssertion(rdfs:label "tenosynovitis of foot and ankle"^^xsd:string) SubClassOf( ) # Class: (gallbladder papillomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25351203/"^^xsd:string) "A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7130"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3120"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gallbladder"^^xsd:string) "A biliary tract cancer that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9328"^^xsd:string) AnnotationAssertion( "ICD10CM:C23"^^xsd:string) AnnotationAssertion( "ICD9CM:156.0"^^xsd:string) AnnotationAssertion( "NCI:C3048"^^xsd:string) AnnotationAssertion( "NCI:C35676"^^xsd:string) AnnotationAssertion( "NCI:C7481"^^xsd:string) AnnotationAssertion( "cancer of gallbladder"^^xsd:string) AnnotationAssertion( "gall bladder cancer"^^xsd:string) AnnotationAssertion( "gall bladder cancers"^^xsd:string) AnnotationAssertion( "gallbladder Ca"^^xsd:string) AnnotationAssertion( "gallbladder cancers"^^xsd:string) AnnotationAssertion( "localized malignant gallbladder neoplasm"^^xsd:string) AnnotationAssertion( "malignant neoplasm of gallbladder"^^xsd:string) AnnotationAssertion( "malignant tumor of the gallbladder"^^xsd:string) AnnotationAssertion( "malignant tumour of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3121"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric outlet obstruction) AnnotationAssertion(Annotation( "MESH:D017219"^^xsd:string) "The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING."^^xsd:string) AnnotationAssertion( "EFO:1000947"^^xsd:string) AnnotationAssertion( "MESH:D017219"^^xsd:string) AnnotationAssertion( "gastric outflow obstruction"^^xsd:string) AnnotationAssertion( "gastric outlet obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3122"^^xsd:string) AnnotationAssertion(rdfs:label "gastric outlet obstruction"^^xsd:string) SubClassOf( ) # Class: (multiple endocrine neoplasia) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia"^^xsd:string) "A syndrome that is characterized by tumors in at least two endocrine glands. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009377"^^xsd:string) AnnotationAssertion( "MIM:PS131100"^^xsd:string) AnnotationAssertion( "Multiple endocrine neoplasia syndrome"^^xsd:string) AnnotationAssertion( "familial endocrine adenomatoses"^^xsd:string) AnnotationAssertion( "familial endocrine adenomatosis"^^xsd:string) AnnotationAssertion( "multiple endocrine adenomatoses"^^xsd:string) AnnotationAssertion( "multiple endocrine adenomatosis"^^xsd:string) AnnotationAssertion( "multiple endocrine adenopathies"^^xsd:string) AnnotationAssertion( "multiple endocrine adenopathy"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasia syndromes"^^xsd:string) AnnotationAssertion( "multiple endocrine neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3125"^^xsd:string) AnnotationAssertion(rdfs:label "multiple endocrine neoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proctitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/std/Treatment/2006/proctitis.htm"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361"^^xsd:string) "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005628"^^xsd:string) AnnotationAssertion( "ICD10CM:K62.89"^^xsd:string) AnnotationAssertion( "MESH:D011349"^^xsd:string) AnnotationAssertion( "NCI:C38011"^^xsd:string) AnnotationAssertion( "Proctitides"^^xsd:string) AnnotationAssertion( "ulcerative proctitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3127"^^xsd:string) AnnotationAssertion(rdfs:label "proctitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus disease) AnnotationAssertion(Annotation( "MESH:D001004"^^xsd:string) Annotation( "https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z"^^xsd:string) "A rectal disease located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009660"^^xsd:string) AnnotationAssertion( "MESH:D001004"^^xsd:string) AnnotationAssertion( "NCI:C26695"^^xsd:string) AnnotationAssertion( "anal disease"^^xsd:string) AnnotationAssertion( "anal fissure and fistula"^^xsd:string) AnnotationAssertion( "anus diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3128"^^xsd:string) AnnotationAssertion(rdfs:label "anus disease"^^xsd:string) SubClassOf( ) # Class: (porphyria cutanea tarda) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract"^^xsd:string) "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176100"^^xsd:string) AnnotationAssertion( "EFO:0009043"^^xsd:string) AnnotationAssertion( "GARD:7433"^^xsd:string) AnnotationAssertion( "ICD10CM:E80.1"^^xsd:string) AnnotationAssertion( "MESH:D017119"^^xsd:string) AnnotationAssertion( "NCI:C27725"^^xsd:string) AnnotationAssertion( "ORDO:101330"^^xsd:string) AnnotationAssertion( "PCT"^^xsd:string) AnnotationAssertion( "UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Familial porphyria cutanea tarda"^^xsd:string) AnnotationAssertion( "HEP"^^xsd:string) AnnotationAssertion( "PCT, 'FAMILIAL' TYPE"^^xsd:string) AnnotationAssertion( "PCT, type II"^^xsd:string) AnnotationAssertion( "PORPHYRIA CUTANEA TARDA, TYPE II"^^xsd:string) AnnotationAssertion( "PORPHYRIA, HEPATOCUTANEOUS TYPE"^^xsd:string) AnnotationAssertion( "UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3132"^^xsd:string) AnnotationAssertion(rdfs:label "porphyria cutanea tarda"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute porphyria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Porphyria"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html"^^xsd:string) "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. (DO)"^^xsd:string) AnnotationAssertion( "ORDO:100924"^^xsd:string) AnnotationAssertion( "acute porphyrias"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:55056006"^^xsd:string) "hepatic porphyria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3133"^^xsd:string) AnnotationAssertion(rdfs:label "acute porphyria"^^xsd:string) SubClassOf( ) # Class: (facial dermatosis) AnnotationAssertion(Annotation( "MESH:D005148"^^xsd:string) "Skin diseases involving the FACE."^^xsd:string) AnnotationAssertion( "EFO:1000698"^^xsd:string) AnnotationAssertion( "MESH:D005148"^^xsd:string) AnnotationAssertion( "Favre Racouchot Syndrome"^^xsd:string) AnnotationAssertion( "Nodular Elastoidoses"^^xsd:string) AnnotationAssertion( "Nodular Elastoidosis"^^xsd:string) AnnotationAssertion( "Nodular Elastoses"^^xsd:string) AnnotationAssertion( "Nodular Elastosis"^^xsd:string) AnnotationAssertion( "facial dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3134"^^xsd:string) AnnotationAssertion(rdfs:label "facial dermatosis"^^xsd:string) SubClassOf( ) # Class: (scalp dermatosis) AnnotationAssertion(Annotation( "MESH:D012536"^^xsd:string) "Skin diseases involving the SCALP."^^xsd:string) AnnotationAssertion( "EFO:1000761"^^xsd:string) AnnotationAssertion( "MESH:D012536"^^xsd:string) AnnotationAssertion( "dermatosis of scalp"^^xsd:string) AnnotationAssertion( "scalp dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3136"^^xsd:string) AnnotationAssertion(rdfs:label "scalp dermatosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (acanthosis nigricans) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32516476/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK431057/"^^xsd:string) "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. (DO)"^^xsd:string) AnnotationAssertion( "MIM:100600"^^xsd:string) AnnotationAssertion( "EFO:1000660"^^xsd:string) AnnotationAssertion( "GARD:8603"^^xsd:string) AnnotationAssertion( "ICD10CM:L83"^^xsd:string) AnnotationAssertion( "MESH:D000052"^^xsd:string) AnnotationAssertion( "NCI:C26687"^^xsd:string) AnnotationAssertion( "Acanthosis Nigrican"^^xsd:string) AnnotationAssertion( "keratosis nigricans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3138"^^xsd:string) AnnotationAssertion(rdfs:label "acanthosis nigricans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tenosynovial giant cell tumor) AnnotationAssertion(Annotation( "MESH:D000070779"^^xsd:string) "A tumor arising in the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath. It is characterized by OSTEOCLAST-like GIANT CELLS; FOAM CELLS; pigmented HEMOSIDERIN-laden MACROPHAGES and inflammatory infiltrate. It is classified either as diffuse or localized tenosynovitis."^^xsd:string) AnnotationAssertion( "EFO:1000562"^^xsd:string) AnnotationAssertion( "ICD9CM:727.02"^^xsd:string) AnnotationAssertion( "ICDO:9252/0"^^xsd:string) AnnotationAssertion( "MESH:D000070779"^^xsd:string) AnnotationAssertion( "NCI:C3402"^^xsd:string) AnnotationAssertion( "Giant cell tumour of Tenosynovium"^^xsd:string) AnnotationAssertion( "Localized Giant Cell Tumor of the Tendon Sheath"^^xsd:string) AnnotationAssertion( "Localized Nodular Tenosynovitides"^^xsd:string) AnnotationAssertion( "Localized Nodular Tenosynovitis"^^xsd:string) AnnotationAssertion( "Localized Pigmented Villonodular Synovitis"^^xsd:string) AnnotationAssertion( "Nodular Tenosynovitides"^^xsd:string) AnnotationAssertion( "fibrous histiocytoma of tendon sheath"^^xsd:string) AnnotationAssertion( "giant cell tumor of tendon sheath"^^xsd:string) AnnotationAssertion( "giant cell tumor of tenosynovium"^^xsd:string) AnnotationAssertion( "giant cell tumour of tendon sheath"^^xsd:string) AnnotationAssertion( "nodular tenosynovitis"^^xsd:string) AnnotationAssertion( "tenosynovial giant cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:314"^^xsd:string) AnnotationAssertion(rdfs:label "tenosynovial giant cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scleredema adultorum) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30128796"^^xsd:string) "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000762"^^xsd:string) AnnotationAssertion( "GARD:5975"^^xsd:string) AnnotationAssertion( "MESH:D012592"^^xsd:string) AnnotationAssertion( "NCI:C85057"^^xsd:string) AnnotationAssertion( "Buschke Scleredema Adultorum"^^xsd:string) AnnotationAssertion( "Buschke Scleredema Diabeticorum"^^xsd:string) AnnotationAssertion( "Buschke scleredema"^^xsd:string) AnnotationAssertion( "Buschke's Scleredema"^^xsd:string) AnnotationAssertion( "Buschkes Scleredema"^^xsd:string) AnnotationAssertion( "Scleredema"^^xsd:string) AnnotationAssertion( "Scleredema Adultorum of Buschke"^^xsd:string) AnnotationAssertion( "Scleredema Diabeticorum"^^xsd:string) AnnotationAssertion( "Scleredema Diabeticorum of Buschke"^^xsd:string) AnnotationAssertion( "Scleredema Diabeticorums"^^xsd:string) AnnotationAssertion( "scleredemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3140"^^xsd:string) AnnotationAssertion(rdfs:label "scleredema adultorum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinoses) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mucinosis"^^xsd:string) Annotation( "https://www.dermnetnz.org/topics/cutaneous-mucinoses/"^^xsd:string) "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D017520"^^xsd:string) AnnotationAssertion( "mucinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3141"^^xsd:string) AnnotationAssertion(rdfs:label "mucinoses"^^xsd:string) SubClassOf( ) # Class: (leg dermatosis) AnnotationAssertion(Annotation( "MESH:D007868"^^xsd:string) "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000723"^^xsd:string) AnnotationAssertion( "MESH:D007868"^^xsd:string) AnnotationAssertion( "leg dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3142"^^xsd:string) AnnotationAssertion(rdfs:label "leg dermatosis"^^xsd:string) SubClassOf( ) # Class: (cutis laxa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cutis_laxa"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cutis-laxa"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract"^^xsd:string) "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6227"^^xsd:string) AnnotationAssertion( "MESH:D003483"^^xsd:string) AnnotationAssertion( "MIM:PS123700"^^xsd:string) AnnotationAssertion( "NCI:C84663"^^xsd:string) AnnotationAssertion( "ORDO:209"^^xsd:string) AnnotationAssertion( "dermatolyses"^^xsd:string) AnnotationAssertion( "dermatolysis"^^xsd:string) AnnotationAssertion( "dermatomegaly"^^xsd:string) AnnotationAssertion( "loose skin"^^xsd:string) AnnotationAssertion( "CUTIS LAXA, DOMINANT/RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3144"^^xsd:string) AnnotationAssertion(rdfs:label "cutis laxa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperlipoproteinemia type III) AnnotationAssertion(Annotation( "https://omim.org/entry/617347"^^xsd:string) "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:617347"^^xsd:string) AnnotationAssertion( "MESH:D006952"^^xsd:string) AnnotationAssertion( "NCI:C34710"^^xsd:string) AnnotationAssertion( "DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d"^^xsd:string) AnnotationAssertion( "Dysbetalipoproteinemia"^^xsd:string) AnnotationAssertion( "FLOATING-BETALIPOPROTEINEMIA"^^xsd:string) AnnotationAssertion( "Familial Dysbetalipoproteinemia"^^xsd:string) AnnotationAssertion( "apolipoprotein E, deficiency or defect of"^^xsd:string) AnnotationAssertion( "carbohydrate induced hyperlipemia"^^xsd:string) AnnotationAssertion( "familial hypercholesterolaemia with hyperlipaemia"^^xsd:string) AnnotationAssertion( "familial hypercholesterolemia with hyperlipemia"^^xsd:string) AnnotationAssertion( "familial type 3 hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemias type III"^^xsd:string) AnnotationAssertion( "remnant hyperlipidemia"^^xsd:string) AnnotationAssertion( "HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)"^^xsd:string) AnnotationAssertion( "hyperlipoproteinemias type III, due to APOE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOE2 isoforms"^^xsd:string) AnnotationAssertion( "APOE3(-)-KOCHI"^^xsd:string) AnnotationAssertion( "APOE3-WASHINGTON"^^xsd:string) AnnotationAssertion( "APOE5 VARIANT"^^xsd:string) AnnotationAssertion( "CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:3145"^^xsd:string) AnnotationAssertion(rdfs:label "hyperlipoproteinemia type III"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipid metabolism disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipid_metabolism"^^xsd:string) "An inherited metabolic disorder that involves the creation and degradation of lipids. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008052"^^xsd:string) AnnotationAssertion( "MESH:D052439"^^xsd:string) AnnotationAssertion( "fatty acid metabolism disorder"^^xsd:string) AnnotationAssertion( "lipid metabolism disorders"^^xsd:string) AnnotationAssertion( "lipid metabolism, inborn error"^^xsd:string) AnnotationAssertion( "lipid metabolism, inborn errors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3146"^^xsd:string) AnnotationAssertion(rdfs:label "lipid metabolism disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermal unilateral segmental cavernous angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004568"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4750"^^xsd:string) "Unilateral Segmental Cavernous hemangioma of the skin"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254783008"^^xsd:string) "Unilateral segmental cavernous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3148"^^xsd:string) AnnotationAssertion(rdfs:label "dermal unilateral segmental cavernous angioma"^^xsd:string) SubClassOf( ) # Class: (keratoacanthoma) AnnotationAssertion( "A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption."^^xsd:string) AnnotationAssertion( "MESH:D007636"^^xsd:string) AnnotationAssertion( "NCI:C3146"^^xsd:string) AnnotationAssertion( "Keratoacanthomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3149"^^xsd:string) AnnotationAssertion(rdfs:label "keratoacanthoma"^^xsd:string) SubClassOf( ) # Class: (synovium neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8964"^^xsd:string) AnnotationAssertion( "synovial neoplasm"^^xsd:string) AnnotationAssertion( "tumor of synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:315"^^xsd:string) AnnotationAssertion(rdfs:label "synovium neoplasm"^^xsd:string) SubClassOf( ) # Class: (skin squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A skin carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-08-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001927"^^xsd:string) AnnotationAssertion( "NCI:C4819"^^xsd:string) AnnotationAssertion( "cutaneous squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "epidermoid skin carcinoma"^^xsd:string) AnnotationAssertion( "spinous cell carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3151"^^xsd:string) AnnotationAssertion(rdfs:label "skin squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipomatosis) AnnotationAssertion(Annotation( "MESH:D008068"^^xsd:string) "A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA."^^xsd:string) AnnotationAssertion( "EFO:1000728"^^xsd:string) AnnotationAssertion( "MESH:D008068"^^xsd:string) AnnotationAssertion( "lipomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3153"^^xsd:string) AnnotationAssertion(rdfs:label "lipomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypomelanosis of Ito) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/"^^xsd:string) "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000395"^^xsd:string) AnnotationAssertion( "EFO:1000716"^^xsd:string) AnnotationAssertion( "MIM:300337"^^xsd:string) AnnotationAssertion( "MONDO:0010631"^^xsd:string) AnnotationAssertion( "NCI:C7582"^^xsd:string) AnnotationAssertion( "ORDO:263432"^^xsd:string) AnnotationAssertion( "Bloch-Siemans syndrome"^^xsd:string) AnnotationAssertion( "HMI"^^xsd:string) AnnotationAssertion( "IP1"^^xsd:string) AnnotationAssertion( "IPA"^^xsd:string) AnnotationAssertion( "ITO"^^xsd:string) AnnotationAssertion( "ITO hypomelanosis"^^xsd:string) AnnotationAssertion( "Ito's nevus"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti achromians"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti achromians syndrome"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti syndrome"^^xsd:string) AnnotationAssertion( "incontinentia pigmenti, type I"^^xsd:string) AnnotationAssertion( "nevus fuscocaeruleus acromiodeltoideus"^^xsd:string) AnnotationAssertion( "nevus of Ito"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3156"^^xsd:string) AnnotationAssertion(rdfs:label "hypomelanosis of Ito"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hand dermatosis) AnnotationAssertion(Annotation( "MESH:D006229"^^xsd:string) "Skin diseases involving the HANDS."^^xsd:string) AnnotationAssertion( "EFO:1000706"^^xsd:string) AnnotationAssertion( "MESH:D006229"^^xsd:string) AnnotationAssertion( "Hand Dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3158"^^xsd:string) AnnotationAssertion(rdfs:label "hand dermatosis"^^xsd:string) SubClassOf( ) # Class: (photosensitivity disease) AnnotationAssertion(Annotation( "MESH:D010787"^^xsd:string) "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy."^^xsd:string) AnnotationAssertion( "EFO:1000752"^^xsd:string) AnnotationAssertion( "MESH:D010787"^^xsd:string) AnnotationAssertion( "RDO:0001713"^^xsd:string) AnnotationAssertion( "Actinic Dermatitides"^^xsd:string) AnnotationAssertion( "Actinic Dermatitis"^^xsd:string) AnnotationAssertion( "Actinic Reticuloid Syndrome"^^xsd:string) AnnotationAssertion( "Actinic Reticuloid Syndromes"^^xsd:string) AnnotationAssertion( "Chronic Actinic Dermatitides"^^xsd:string) AnnotationAssertion( "Chronic Actinic Dermatitis"^^xsd:string) AnnotationAssertion( "Photodermatitides"^^xsd:string) AnnotationAssertion( "Photodermatitis"^^xsd:string) AnnotationAssertion( "Photosensitivity Disorder"^^xsd:string) AnnotationAssertion( "Photosensitivity Disorders"^^xsd:string) AnnotationAssertion( "Photosensitization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3159"^^xsd:string) AnnotationAssertion(rdfs:label "photosensitivity disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant spindle cell melanoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/"^^xsd:string) "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000546"^^xsd:string) AnnotationAssertion( "NCI:C4237"^^xsd:string) AnnotationAssertion( "Spitzoid malignant melanoma"^^xsd:string) AnnotationAssertion( "spindle cell melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "desmoplastic melanoma"^^xsd:string) AnnotationAssertion( "DOID:3162"^^xsd:string) AnnotationAssertion(rdfs:label "malignant spindle cell melanoma"^^xsd:string) SubClassOf( ) # Class: (skin benign neoplasm) AnnotationAssertion( "A benign proliferation in the skin."^^xsd:string) AnnotationAssertion( "NCI:C3372"^^xsd:string) AnnotationAssertion( "benign neoplasm of skin"^^xsd:string) AnnotationAssertion( "benign tumor of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3165"^^xsd:string) AnnotationAssertion(rdfs:label "skin benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (squamous cell neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D018307"^^xsd:string) AnnotationAssertion( "NCI:C3792"^^xsd:string) AnnotationAssertion( "epidermoid cell tumor"^^xsd:string) AnnotationAssertion( "squamous cell neoplasms"^^xsd:string) AnnotationAssertion( "squamous cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3168"^^xsd:string) AnnotationAssertion(rdfs:label "squamous cell neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8260/0"^^xsd:string) AnnotationAssertion( "NCI:C79951"^^xsd:string) AnnotationAssertion( "glandular papilloma"^^xsd:string) AnnotationAssertion( "papillary adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3172"^^xsd:string) AnnotationAssertion(rdfs:label "papillary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube serous papilloma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Papilloma"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous"^^xsd:string) "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40112"^^xsd:string) AnnotationAssertion( "RDO:9005012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3173"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube serous papilloma"^^xsd:string) SubClassOf( ) # Class: (verrucous papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8051/0"^^xsd:string) AnnotationAssertion( "NCI:C4101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3177"^^xsd:string) AnnotationAssertion(rdfs:label "verrucous papilloma"^^xsd:string) SubClassOf( ) # Class: (skin papilloma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK560737/"^^xsd:string) "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014860"^^xsd:string) AnnotationAssertion( "NCI:C4614"^^xsd:string) AnnotationAssertion( "cutaneous papilloma"^^xsd:string) AnnotationAssertion( "papilloma of skin"^^xsd:string) AnnotationAssertion( "verruca"^^xsd:string) AnnotationAssertion( "verrucas"^^xsd:string) AnnotationAssertion( "wart"^^xsd:string) AnnotationAssertion( "warts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3178"^^xsd:string) AnnotationAssertion(rdfs:label "skin papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inverted papilloma) AnnotationAssertion(Annotation( "MESH:D018308"^^xsd:string) "A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018308"^^xsd:string) AnnotationAssertion( "NCI:C3793"^^xsd:string) AnnotationAssertion( "Inverted Papillomas"^^xsd:string) AnnotationAssertion( "squamous cell inverted papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3179"^^xsd:string) AnnotationAssertion(rdfs:label "inverted papilloma"^^xsd:string) SubClassOf( ) # Class: (progressive muscular atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:335.21"^^xsd:string) AnnotationAssertion( "NCI:C85027"^^xsd:string) AnnotationAssertion( "Duchenne-Aran muscular atrophy"^^xsd:string) AnnotationAssertion( "progressive muscular atrophies"^^xsd:string) AnnotationAssertion( "progressive spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "pure progressive muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:318"^^xsd:string) AnnotationAssertion(rdfs:label "progressive muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oligodendroglioma) AnnotationAssertion(Annotation( "MESH:D009837"^^xsd:string) "A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)"^^xsd:string) AnnotationAssertion( "EFO:0000631"^^xsd:string) AnnotationAssertion( "EFO:0000632"^^xsd:string) AnnotationAssertion( "GARD:9953"^^xsd:string) AnnotationAssertion( "ICDO:9450/3"^^xsd:string) AnnotationAssertion( "MESH:D009837"^^xsd:string) AnnotationAssertion( "NCI:C129319"^^xsd:string) AnnotationAssertion( "NCI:C3288"^^xsd:string) AnnotationAssertion( "NCI:C6960"^^xsd:string) AnnotationAssertion( "oligodendroblastoma"^^xsd:string) AnnotationAssertion( "oligodendroblastomas"^^xsd:string) AnnotationAssertion( "oligodendroglial neoplasm"^^xsd:string) AnnotationAssertion( "oligodendroglial tumor"^^xsd:string) AnnotationAssertion( "oligodendrogliomas"^^xsd:string) AnnotationAssertion( "well differentiated oligodendroglioma"^^xsd:string) AnnotationAssertion( "well-differentiated oligodendrogliomas"^^xsd:string) AnnotationAssertion( "Mixed Oligodendroglioma Astrocytoma"^^xsd:string) AnnotationAssertion( "Mixed Oligodendroglioma Ependymoma"^^xsd:string) AnnotationAssertion( "mixed oligodendroglioma-astrocytomas"^^xsd:string) AnnotationAssertion( "mixed oligodendroglioma-ependymomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3181"^^xsd:string) AnnotationAssertion(rdfs:label "oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (childhood oligodendroglioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9450/3"^^xsd:string) AnnotationAssertion( "NCI:C4045"^^xsd:string) AnnotationAssertion( "childhood oligodendrogliomas"^^xsd:string) AnnotationAssertion( "pediatric oligodendroglioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3183"^^xsd:string) AnnotationAssertion(rdfs:label "childhood oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (spinal cord oligodendroglioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4535"^^xsd:string) AnnotationAssertion( "oligodendroglioma of spinal cord"^^xsd:string) AnnotationAssertion( "well differentiated spinal cord oligodendroglioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3184"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord oligodendroglioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord glioma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45700"^^xsd:string) "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4534"^^xsd:string) AnnotationAssertion( "glial neoplasm spinal cord"^^xsd:string) AnnotationAssertion( "glial tumor of spinal cord"^^xsd:string) AnnotationAssertion( "glioma of spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3185"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult oligodendroglioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4014"^^xsd:string) AnnotationAssertion( "NCI:C9376"^^xsd:string) AnnotationAssertion( "adult brain oligodendroglioma"^^xsd:string) AnnotationAssertion( "grade II adult Oligodendroglial tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3186"^^xsd:string) AnnotationAssertion(rdfs:label "adult oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (brain oligodendroglioma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46257"^^xsd:string) "A brain glioma that has_material_basis_in oligodendrocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9377"^^xsd:string) AnnotationAssertion( "oligodendroglioma of brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3187"^^xsd:string) AnnotationAssertion(rdfs:label "brain oligodendroglioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord disease) AnnotationAssertion(Annotation( "MESH:D013118"^^xsd:string) "Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord."^^xsd:string) AnnotationAssertion( "OMIA:000263"^^xsd:string) AnnotationAssertion( "EFO:0009488"^^xsd:string) AnnotationAssertion( "ICD10CM:G95.9"^^xsd:string) AnnotationAssertion( "ICD9CM:336.9"^^xsd:string) AnnotationAssertion( "MESH:D013118"^^xsd:string) AnnotationAssertion( "NCI:C97110"^^xsd:string) AnnotationAssertion( "RDO:0002593"^^xsd:string) AnnotationAssertion( "Myelopathies"^^xsd:string) AnnotationAssertion( "Myelopathy"^^xsd:string) AnnotationAssertion( "Spinal Cord Disorder"^^xsd:string) AnnotationAssertion( "Spinal Cord Disorders"^^xsd:string) AnnotationAssertion( "spinal cord diseases"^^xsd:string) AnnotationAssertion( "Degenerative myelopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:319"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord disease"^^xsd:string) SubClassOf( ) # Class: (nemaline myopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nemaline_myopathy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/nemaline-myopathy"^^xsd:string) Annotation( "https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract"^^xsd:string) "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020036"^^xsd:string) AnnotationAssertion( "GARD:12033"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.21"^^xsd:string) AnnotationAssertion( "MESH:D017696"^^xsd:string) AnnotationAssertion( "MIM:PS161800"^^xsd:string) AnnotationAssertion( "ORDO:607"^^xsd:string) AnnotationAssertion( "Childhood Onset Nemaline Myopathy"^^xsd:string) AnnotationAssertion( "Late Onset Nemaline Myopathy"^^xsd:string) AnnotationAssertion( "Nemaline Body Disease"^^xsd:string) AnnotationAssertion( "Nemaline Rod Disease"^^xsd:string) AnnotationAssertion( "Rod Body Disease"^^xsd:string) AnnotationAssertion( "Rod Body Myopathy"^^xsd:string) AnnotationAssertion( "Rod Myopathies"^^xsd:string) AnnotationAssertion( "Rod-Body Myopathies"^^xsd:string) AnnotationAssertion( "adult onset nemaline myopathy"^^xsd:string) AnnotationAssertion( "nemaline myopathies"^^xsd:string) AnnotationAssertion( "nemaline rod myopathy"^^xsd:string) AnnotationAssertion( "rod myopathy"^^xsd:string) AnnotationAssertion( "nemaline myopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "nemaline myopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "nemaline myopathy, dominant"^^xsd:string) AnnotationAssertion( "nemaline myopathy, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3191"^^xsd:string) AnnotationAssertion(rdfs:label "nemaline myopathy"^^xsd:string) SubClassOf( ) # Class: (neurilemmoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Schwannoma"^^xsd:string) "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:955"^^xsd:string) AnnotationAssertion( "EFO:0000693"^^xsd:string) AnnotationAssertion( "GARD:4767"^^xsd:string) AnnotationAssertion( "ICDO:9560/3"^^xsd:string) AnnotationAssertion( "MESH:D009442"^^xsd:string) AnnotationAssertion( "NCI:C21997"^^xsd:string) AnnotationAssertion( "NCI:C3269"^^xsd:string) AnnotationAssertion( "NCI:C60465"^^xsd:string) AnnotationAssertion( "MPNST"^^xsd:string) AnnotationAssertion( "Malignant Neurilemmoma"^^xsd:string) AnnotationAssertion( "Malignant Neurilemoma"^^xsd:string) AnnotationAssertion( "Malignant Schwannoma"^^xsd:string) AnnotationAssertion( "Neurilemmomas"^^xsd:string) AnnotationAssertion( "Neurilemmosarcomas"^^xsd:string) AnnotationAssertion( "Neurilemoma"^^xsd:string) AnnotationAssertion( "Neurilemomas"^^xsd:string) AnnotationAssertion( "benign neurilemmoma"^^xsd:string) AnnotationAssertion( "malignant neurilemmomas"^^xsd:string) AnnotationAssertion( "malignant neurilemomas"^^xsd:string) AnnotationAssertion( "malignant schwannomas"^^xsd:string) AnnotationAssertion( "neurilemmosarcoma"^^xsd:string) AnnotationAssertion( "neurinoma"^^xsd:string) AnnotationAssertion( "neurinomas"^^xsd:string) AnnotationAssertion( "plexiform schwannomatoses"^^xsd:string) AnnotationAssertion( "plexiform schwannomatosis"^^xsd:string) AnnotationAssertion( "psammomatous schwannoma"^^xsd:string) AnnotationAssertion( "schwannoma"^^xsd:string) AnnotationAssertion( "schwannomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3192"^^xsd:string) AnnotationAssertion(rdfs:label "neurilemmoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (peripheral nerve sheath neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor"^^xsd:string) "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "neoplasm of the nerve sheath"^^xsd:string) AnnotationAssertion( "nerve sheath tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3193"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nerve sheath neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cellular schwannoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2400975"^^xsd:string) "A neurilemmoma with a predominantly cellular growth but no Verocay bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4724"^^xsd:string) AnnotationAssertion( "RDO:9003537"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4724"^^xsd:string) "cellular Neurinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3196"^^xsd:string) AnnotationAssertion(rdfs:label "cellular schwannoma"^^xsd:string) SubClassOf( ) # Class: (schwannoma of twelfth cranial nerve) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/"^^xsd:string) "A neurilemmoma that is located_in the 12th cranial nerve. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0002549"^^xsd:string) AnnotationAssertion( "NCI:C5434"^^xsd:string) AnnotationAssertion( "hypoglossal schwannoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3197"^^xsd:string) AnnotationAssertion(rdfs:label "schwannoma of twelfth cranial nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypoglossal nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5830"^^xsd:string) AnnotationAssertion( "neoplasm of hypoglossal nerve"^^xsd:string) AnnotationAssertion( "tumor of hypoglossal nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3198"^^xsd:string) AnnotationAssertion(rdfs:label "hypoglossal nerve neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (C-P angle neurinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5413"^^xsd:string) AnnotationAssertion( "RDO:9004057"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5413"^^xsd:string) "Cerebellopontine Angle Neurinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3199"^^xsd:string) AnnotationAssertion(rdfs:label "C-P angle neurinoma"^^xsd:string) SubClassOf( ) # Class: (vascular myelopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G95.1"^^xsd:string) AnnotationAssertion( "ICD9CM:336.1"^^xsd:string) AnnotationAssertion( "RDO:9004271"^^xsd:string) AnnotationAssertion( "vascular myelopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:320"^^xsd:string) AnnotationAssertion(rdfs:label "vascular myelopathy"^^xsd:string) SubClassOf( ) # Class: (cerebellopontine angle tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome"^^xsd:string) "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5414"^^xsd:string) AnnotationAssertion( "cerebellopontine angle tumour"^^xsd:string) AnnotationAssertion( "neoplasm of the cerebellopontine angle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3200"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellopontine angle tumor"^^xsd:string) SubClassOf( ) # Class: (sympathetic neurilemmoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5421"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3201"^^xsd:string) AnnotationAssertion(rdfs:label "sympathetic neurilemmoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurilemmoma of the fifth cranial nerve) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4655"^^xsd:string) AnnotationAssertion( "RDO:9003681"^^xsd:string) AnnotationAssertion( "trigeminal neurilemmoma"^^xsd:string) AnnotationAssertion( "trigeminal schwannoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3202"^^xsd:string) AnnotationAssertion(rdfs:label "neurilemmoma of the fifth cranial nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (macrocystic neurilemmoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5321"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3203"^^xsd:string) AnnotationAssertion(rdfs:label "macrocystic neurilemmoma"^^xsd:string) SubClassOf( ) # Class: (schwannomatosis) AnnotationAssertion(Annotation( "https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35674741/"^^xsd:string) "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.03"^^xsd:string) AnnotationAssertion( "ICD9CM:237.73"^^xsd:string) AnnotationAssertion( "ICDO:9560/1"^^xsd:string) AnnotationAssertion( "MESH:C536641"^^xsd:string) AnnotationAssertion( "MIM:PS162091"^^xsd:string) AnnotationAssertion( "NCI:C6557"^^xsd:string) AnnotationAssertion( "ORDO:93921"^^xsd:string) AnnotationAssertion( "SWN"^^xsd:string) AnnotationAssertion( "congenital cutaneous neurilemmomatosis"^^xsd:string) AnnotationAssertion( "neurilemmomatosis"^^xsd:string) AnnotationAssertion( "neurinomatosis"^^xsd:string) AnnotationAssertion( "schwannomatosis, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3204"^^xsd:string) AnnotationAssertion(rdfs:label "schwannomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (melanotic neurilemmoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6970"^^xsd:string) AnnotationAssertion( "melanotic schwannoma"^^xsd:string) AnnotationAssertion( "pigmented neurilemmoma"^^xsd:string) AnnotationAssertion( "pigmented schwannoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3205"^^xsd:string) AnnotationAssertion(rdfs:label "melanotic neurilemmoma"^^xsd:string) SubClassOf( ) # Class: (plexiform schwannoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6969"^^xsd:string) AnnotationAssertion( "plexiform neurilemmoma"^^xsd:string) AnnotationAssertion( "plexiform neurinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3206"^^xsd:string) AnnotationAssertion(rdfs:label "plexiform schwannoma"^^xsd:string) SubClassOf( ) # Class: (junctional epidermolysis bullosa) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes"^^xsd:string) "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001677"^^xsd:string) AnnotationAssertion( "GARD:2152"^^xsd:string) AnnotationAssertion( "MESH:D016109"^^xsd:string) AnnotationAssertion( "MIM:PS226650"^^xsd:string) AnnotationAssertion( "NCI:C90598"^^xsd:string) AnnotationAssertion( "Herlitz disease"^^xsd:string) AnnotationAssertion( "Herlitz's disease"^^xsd:string) AnnotationAssertion( "Herlitzs disease"^^xsd:string) AnnotationAssertion( "congenital junctional epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa progressiva"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa junctionalis, LAMA3-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3209"^^xsd:string) AnnotationAssertion(rdfs:label "junctional epidermolysis bullosa"^^xsd:string) SubClassOf( ) # Class: (tropical spastic paraparesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html"^^xsd:string) "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. (DO)"^^xsd:string) AnnotationAssertion( "MIM:159580"^^xsd:string) AnnotationAssertion( "EFO:0007527"^^xsd:string) AnnotationAssertion( "ICD10CM:G04.1"^^xsd:string) AnnotationAssertion( "MESH:D015493"^^xsd:string) AnnotationAssertion( "NCI:C179058"^^xsd:string) AnnotationAssertion( "Familial Spastic Paraparesis, Htlv 1 Associated"^^xsd:string) AnnotationAssertion( "HAM"^^xsd:string) AnnotationAssertion( "HAM/TSP"^^xsd:string) AnnotationAssertion( "HTLV I Associated Myelopathy"^^xsd:string) AnnotationAssertion( "HTLV I Associated Myelopathy Tropical Spastic Paraparesis"^^xsd:string) AnnotationAssertion( "HTLV I associated myelopathies"^^xsd:string) AnnotationAssertion( "HTLV-1-associated myelopathies"^^xsd:string) AnnotationAssertion( "HTLV-1-associated myelopathy/tropical spastic paraparesis"^^xsd:string) AnnotationAssertion( "HTLV-associated myelopathy"^^xsd:string) AnnotationAssertion( "Htlv-1-Associated Myelopathy"^^xsd:string) AnnotationAssertion( "Human T Lymphotropic Virus Type 1 Associated Myelopathy"^^xsd:string) AnnotationAssertion( "Tropical Spastic Parapareses"^^xsd:string) AnnotationAssertion( "tropical spastic paralysis"^^xsd:string) AnnotationAssertion( "tropical spastic paraplegia"^^xsd:string) AnnotationAssertion( "tropical spastic paraplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:321"^^xsd:string) AnnotationAssertion(rdfs:label "tropical spastic paraparesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pelizaeus-Merzbacher disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK560522/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15627202"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2773936"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3476455"^^xsd:string) "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312080"^^xsd:string) AnnotationAssertion( "OMIA:000770"^^xsd:string) AnnotationAssertion( "GARD:4265"^^xsd:string) AnnotationAssertion( "MESH:D020371"^^xsd:string) AnnotationAssertion( "NCI:C75487"^^xsd:string) AnnotationAssertion( "ORDO:702"^^xsd:string) AnnotationAssertion( "Cockayne Pelizaeus Merzbacher Disease"^^xsd:string) AnnotationAssertion( "HLD1"^^xsd:string) AnnotationAssertion( "PMD"^^xsd:string) AnnotationAssertion( "adult Pelizaeus Merzbacher disease"^^xsd:string) AnnotationAssertion( "atypical Pelizaeus Merzbacher disease"^^xsd:string) AnnotationAssertion( "brain Pelizaeus-Merzbacher sclerosis"^^xsd:string) AnnotationAssertion( "classic Pelizaeus Merzbacher Disease"^^xsd:string) AnnotationAssertion( "diffuse familial brain sclerosis"^^xsd:string) AnnotationAssertion( "hypomyelinating leukodystrophy 1"^^xsd:string) AnnotationAssertion( "sudanophilic leukodystrophy"^^xsd:string) AnnotationAssertion( "sudanophilic leukodystrophy, Paelizeus-Merzbacher type"^^xsd:string) AnnotationAssertion( "transitional Pelizaeus Merzbacher disease"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher disease, connatal"^^xsd:string) AnnotationAssertion( "Pelizaeus-Merzbacher disease, mild"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3210"^^xsd:string) AnnotationAssertion(rdfs:label "Pelizaeus-Merzbacher disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lysosomal storage disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lysosomal_storage_disease"^^xsd:string) "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D016464"^^xsd:string) AnnotationAssertion( "NCI:C61250"^^xsd:string) AnnotationAssertion( "disorder of lysosomal enzyme"^^xsd:string) AnnotationAssertion( "inborn lysosomal enzyme disorder"^^xsd:string) AnnotationAssertion( "lysosomal enzyme disorder"^^xsd:string) AnnotationAssertion( "lysosomal enzyme disorders"^^xsd:string) AnnotationAssertion( "lysosomal storage diseases"^^xsd:string) AnnotationAssertion( "lysosomal storage metabolism disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3211"^^xsd:string) AnnotationAssertion(rdfs:label "lysosomal storage disease"^^xsd:string) SubClassOf( ) # Class: (demyelinating disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17071802"^^xsd:string) "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003711"^^xsd:string) AnnotationAssertion( "NCI:C34527"^^xsd:string) AnnotationAssertion( "Clinically Isolated CNS Demyelinating Syndrome"^^xsd:string) AnnotationAssertion( "Demyelinating Disorder"^^xsd:string) AnnotationAssertion( "Demyelinating Disorders"^^xsd:string) AnnotationAssertion( "Demyelination"^^xsd:string) AnnotationAssertion( "Demyelinations"^^xsd:string) AnnotationAssertion( "demyelinating diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3213"^^xsd:string) AnnotationAssertion(rdfs:label "demyelinating disease"^^xsd:string) SubClassOf( ) # Class: (jejunal somatostatinoma) AnnotationAssertion( "Somatosatinoma of Jejunum"^^xsd:string) AnnotationAssertion( "NCI:C5787"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5787"^^xsd:string) "Somatosatinoma of Jejunum"^^xsd:string) AnnotationAssertion( "jejunal delta cell somatostatin producing tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3216"^^xsd:string) AnnotationAssertion(rdfs:label "jejunal somatostatinoma"^^xsd:string) SubClassOf( ) # Class: (jejunal neoplasm) AnnotationAssertion(Annotation( "MESH:D007580"^^xsd:string) "Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)."^^xsd:string) AnnotationAssertion( "MESH:D007580"^^xsd:string) AnnotationAssertion( "NCI:C8401"^^xsd:string) AnnotationAssertion( "jejunal neoplasms"^^xsd:string) AnnotationAssertion( "jejunal tumor"^^xsd:string) AnnotationAssertion( "neoplasm of jejunum"^^xsd:string) AnnotationAssertion( "tumor of jejunum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3218"^^xsd:string) AnnotationAssertion(rdfs:label "jejunal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myelitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Myelitis"^^xsd:string) "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001472"^^xsd:string) AnnotationAssertion( "GARD:7130"^^xsd:string) AnnotationAssertion( "MESH:D009187"^^xsd:string) AnnotationAssertion( "NCI:C26832"^^xsd:string) AnnotationAssertion( "Infectious Myelitis"^^xsd:string) AnnotationAssertion( "Inflammatory Myelopathy"^^xsd:string) AnnotationAssertion( "Myelitides"^^xsd:string) AnnotationAssertion( "Spinal Cord Inflammation"^^xsd:string) AnnotationAssertion( "Spinal Cord Inflammations"^^xsd:string) AnnotationAssertion( "inflammatory myelopathies"^^xsd:string) AnnotationAssertion( "subacute necrotising myelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:322"^^xsd:string) AnnotationAssertion(rdfs:label "myelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (causalgia) AnnotationAssertion(Annotation( "MESH:D002422"^^xsd:string) "A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)"^^xsd:string) AnnotationAssertion( "EFO:1000854"^^xsd:string) AnnotationAssertion( "MESH:D002422"^^xsd:string) AnnotationAssertion( "NCI:C121572"^^xsd:string) AnnotationAssertion( "CRPS Type II"^^xsd:string) AnnotationAssertion( "Causalgia Syndrome"^^xsd:string) AnnotationAssertion( "Causalgia Syndromes"^^xsd:string) AnnotationAssertion( "Complex Regional Pain Syndrome Type II"^^xsd:string) AnnotationAssertion( "Deafferentation Pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3222"^^xsd:string) AnnotationAssertion(rdfs:label "causalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (complex regional pain syndrome) AnnotationAssertion(Annotation( "MESH:D020918"^^xsd:string) "Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)"^^xsd:string) AnnotationAssertion( "EFO:1001998"^^xsd:string) AnnotationAssertion( "GARD:4647"^^xsd:string) AnnotationAssertion( "MESH:D020918"^^xsd:string) AnnotationAssertion( "RDO:0005150"^^xsd:string) AnnotationAssertion( "CRPS (Complex Regional Pain Syndromes)"^^xsd:string) AnnotationAssertion( "complex regional pain syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3223"^^xsd:string) AnnotationAssertion(rdfs:label "complex regional pain syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tracheal disease) AnnotationAssertion(Annotation( "MESH:D014133"^^xsd:string) "Diseases involving the TRACHEA."^^xsd:string) AnnotationAssertion( "MESH:D014133"^^xsd:string) AnnotationAssertion( "MONDO:0002567"^^xsd:string) AnnotationAssertion( "NCI:C35079"^^xsd:string) AnnotationAssertion( "tracheal diseases"^^xsd:string) AnnotationAssertion( "tracheal disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3225"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tracheal stenosis) AnnotationAssertion(Annotation( "MESH:D014135"^^xsd:string) "A pathological narrowing of the TRACHEA."^^xsd:string) AnnotationAssertion( "MESH:D014135"^^xsd:string) AnnotationAssertion( "NCI:C78646"^^xsd:string) AnnotationAssertion( "Tracheal Stenoses"^^xsd:string) AnnotationAssertion( "stenosis of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3227"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal stenosis"^^xsd:string) SubClassOf( ) # Class: (gastric dilatation) AnnotationAssertion(Annotation( "MESH:D013271"^^xsd:string) "Abnormal distention of the STOMACH due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of GASTRIC OUTLET OBSTRUCTION; ILEUS; GASTROPARESIS; or denervation."^^xsd:string) AnnotationAssertion( "RDO:0006620"^^xsd:string) AnnotationAssertion( "MESH:D013271"^^xsd:string) AnnotationAssertion( "Gastric Dilation"^^xsd:string) AnnotationAssertion( "Stomach Dilatation"^^xsd:string) AnnotationAssertion( "Stomach Dilation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3229"^^xsd:string) AnnotationAssertion(rdfs:label "gastric dilatation"^^xsd:string) SubClassOf( ) # Class: (high pressure neurological syndrome) AnnotationAssertion(Annotation( "MESH:D006610"^^xsd:string) "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and SEIZURES. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium."^^xsd:string) AnnotationAssertion( "MESH:D006610"^^xsd:string) AnnotationAssertion( "RDO:0005803"^^xsd:string) AnnotationAssertion( "Experimental High Pressure Neurological Syndrome"^^xsd:string) AnnotationAssertion( "HPNS"^^xsd:string) AnnotationAssertion( "HPNSs"^^xsd:string) AnnotationAssertion( "High Pressure Nervous Syndrome"^^xsd:string) AnnotationAssertion( "High Pressure Neural Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3230"^^xsd:string) AnnotationAssertion(rdfs:label "high pressure neurological syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central nervous system lymphoma) AnnotationAssertion(Annotation( "https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma"^^xsd:string) "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000157"^^xsd:string) AnnotationAssertion( "ICD9CM:200.5"^^xsd:string) AnnotationAssertion( "NCI:C9301"^^xsd:string) AnnotationAssertion( "PCNSL"^^xsd:string) AnnotationAssertion( "microglioma"^^xsd:string) AnnotationAssertion( "primary CNS lymphoma"^^xsd:string) AnnotationAssertion( "primary central nervous system lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3234"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aspiration pneumonitis) AnnotationAssertion(Annotation( "http://www.nejm.org/doi/full/10.1056/NEJM200103013440908"^^xsd:string) "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001399"^^xsd:string) AnnotationAssertion( "ICD10CM:J69.0"^^xsd:string) AnnotationAssertion( "RDO:9004846"^^xsd:string) AnnotationAssertion( "Chemical pneumonitis"^^xsd:string) AnnotationAssertion( "Mendelson's Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3240"^^xsd:string) AnnotationAssertion(rdfs:label "aspiration pneumonitis"^^xsd:string) SubClassOf( ) # Class: (lipid pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipid_pneumonia"^^xsd:string) "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007345"^^xsd:string) AnnotationAssertion( "ICD10CM:J69.1"^^xsd:string) AnnotationAssertion( "MESH:D011017"^^xsd:string) AnnotationAssertion( "Lipid Pneumonias"^^xsd:string) AnnotationAssertion( "exogenous lipoid pneumonia"^^xsd:string) AnnotationAssertion( "lipoid pneumonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3241"^^xsd:string) AnnotationAssertion(rdfs:label "lipid pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (embryonal rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1"^^xsd:string) "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000437"^^xsd:string) AnnotationAssertion( "GARD:4702"^^xsd:string) AnnotationAssertion( "ICDO:8910/3"^^xsd:string) AnnotationAssertion( "MESH:D018233"^^xsd:string) AnnotationAssertion( "NCI:C8971"^^xsd:string) AnnotationAssertion( "ORDO:99757"^^xsd:string) AnnotationAssertion( "Embryonal Rhabdomyosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3246"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425116/"^^xsd:string) "A skeletal muscle cancer that arise from skeletal muscle progenitors. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002918"^^xsd:string) AnnotationAssertion( "ICDO:8900/3"^^xsd:string) AnnotationAssertion( "MESH:D012208"^^xsd:string) AnnotationAssertion( "NCI:C129300"^^xsd:string) AnnotationAssertion( "NCI:C24022"^^xsd:string) AnnotationAssertion( "NCI:C3359"^^xsd:string) AnnotationAssertion( "NCI:C60504"^^xsd:string) AnnotationAssertion( "Rhabdomyosarcomas"^^xsd:string) AnnotationAssertion( "Rhabdomyosarcoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3247"^^xsd:string) AnnotationAssertion(rdfs:label "rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (pleomorphic rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4258"^^xsd:string) AnnotationAssertion( "anaplastic rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3250"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (prostate embryonal rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/"^^xsd:string) "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5525"^^xsd:string) AnnotationAssertion( "embryonal rhabdomyosarcoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3251"^^xsd:string) AnnotationAssertion(rdfs:label "prostate embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26776454"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29468476"^^xsd:string) "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000498"^^xsd:string) AnnotationAssertion( "NCI:C5522"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3252"^^xsd:string) AnnotationAssertion(rdfs:label "prostate rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (embryonal extrahepatic bile duct rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3253"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal extrahepatic bile duct rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string) "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5860"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3254"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (botryoid rhabdomyosarcoma) AnnotationAssertion( "NCI:C9150"^^xsd:string) AnnotationAssertion( "botryoid sarcoma"^^xsd:string) AnnotationAssertion( "botryoid-type embryonal rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "sarcoma botryoides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3255"^^xsd:string) AnnotationAssertion(rdfs:label "botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (orbit embryonal rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/"^^xsd:string) "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6246"^^xsd:string) AnnotationAssertion( "embryonal rhabdomyosarcoma of the orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3258"^^xsd:string) AnnotationAssertion(rdfs:label "orbit embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbit rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma"^^xsd:string) Annotation( "https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/"^^xsd:string) "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537605"^^xsd:string) AnnotationAssertion( "NCI:C4543"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of orbit"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of the orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3259"^^xsd:string) AnnotationAssertion(rdfs:label "orbit rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ischemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ischemia"^^xsd:string) "A vascular disease that is characterized by a restriction in blood supply to tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000556"^^xsd:string) AnnotationAssertion( "MESH:D007511"^^xsd:string) AnnotationAssertion( "NCI:C34738"^^xsd:string) AnnotationAssertion( "ischemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:326"^^xsd:string) AnnotationAssertion(rdfs:label "ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34958505/"^^xsd:string) "A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8912/3"^^xsd:string) AnnotationAssertion( "NCI:C121654"^^xsd:string) AnnotationAssertion( "NCI:C6519"^^xsd:string) AnnotationAssertion( "Synonym Rhabdomyosarcoma, spindle cell/sclerosing type"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma, spindle cell/sclerosing type"^^xsd:string) AnnotationAssertion( "sclerosing rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "spindle cell/sclerosing rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3260"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (hyper IgE recurrent infection syndrome 1) AnnotationAssertion(Annotation( "https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies"^^xsd:string) "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)"^^xsd:string) AnnotationAssertion( "2019-08-30T08:12:29Z"^^xsd:string) AnnotationAssertion( "MIM:147060"^^xsd:string) AnnotationAssertion( "STAT3-RELATED CONDITIONS"^^xsd:string) AnnotationAssertion( "EFO:0003775"^^xsd:string) AnnotationAssertion( "GARD:6800"^^xsd:string) AnnotationAssertion( "MESH:C567925"^^xsd:string) AnnotationAssertion( "MONDO:0007818"^^xsd:string) AnnotationAssertion( "NCI:C126342"^^xsd:string) AnnotationAssertion( "NCI:C126343"^^xsd:string) AnnotationAssertion( "ORDO:2314"^^xsd:string) AnnotationAssertion( "Buckley syndrome"^^xsd:string) AnnotationAssertion( "Buckley syndromes"^^xsd:string) AnnotationAssertion( "HIES1"^^xsd:string) AnnotationAssertion( "Job Buckley syndromes"^^xsd:string) AnnotationAssertion( "Job syndrome"^^xsd:string) AnnotationAssertion( "Job syndromes"^^xsd:string) AnnotationAssertion( "Job's syndrome"^^xsd:string) AnnotationAssertion( "Job-Buckley syndrome"^^xsd:string) AnnotationAssertion( "Jobs syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant HIES"^^xsd:string) AnnotationAssertion( "hyper Immunoglobulin E syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome 1, autosomal dominant"^^xsd:string) AnnotationAssertion( "hyper-IgE recurrent infection syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "hyper-IgE syndrome 1, autosomal dominant, with recurrent infections"^^xsd:string) AnnotationAssertion( "hyper-IgE syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3261"^^xsd:string) AnnotationAssertion(rdfs:label "hyper IgE recurrent infection syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (phagocyte bactericidal dysfunction) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction"^^xsd:string) "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007433"^^xsd:string) AnnotationAssertion( "MESH:D010585"^^xsd:string) AnnotationAssertion( "phagocyte bactericidal dysfunctions"^^xsd:string) AnnotationAssertion( "phagocytic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3262"^^xsd:string) AnnotationAssertion(rdfs:label "phagocyte bactericidal dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (piebaldism) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32975012/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15485525"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1717985"^^xsd:string) "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:172800"^^xsd:string) AnnotationAssertion( "GARD:4344"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.39"^^xsd:string) AnnotationAssertion( "MESH:D016116"^^xsd:string) AnnotationAssertion( "NCI:C85009"^^xsd:string) AnnotationAssertion( "ORDO:2884"^^xsd:string) AnnotationAssertion( "PBT"^^xsd:string) AnnotationAssertion( "cutaneous albinism"^^xsd:string) AnnotationAssertion( "partial albinism"^^xsd:string) AnnotationAssertion( "piebald trait"^^xsd:string) AnnotationAssertion( "PIEBALDISM WITH SENSORINEURAL DEAFNESS"^^xsd:string) AnnotationAssertion( "PIEBALDISM, PROGRESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3263"^^xsd:string) AnnotationAssertion(rdfs:comment "DO: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012)."^^xsd:string) AnnotationAssertion(rdfs:label "piebaldism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subacute leukemia) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/medical/subacute.htm"^^xsd:string) "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:208.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3264"^^xsd:string) AnnotationAssertion(rdfs:label "subacute leukemia"^^xsd:string) SubClassOf( ) # Class: (chronic granulomatous disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chronic_granulomatous_disease"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK99496/"^^xsd:string) "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000338"^^xsd:string) AnnotationAssertion( "GARD:6100"^^xsd:string) AnnotationAssertion( "ICD10CM:D71"^^xsd:string) AnnotationAssertion( "MESH:D006105"^^xsd:string) AnnotationAssertion( "MIM:PS306400"^^xsd:string) AnnotationAssertion( "MONDO:0018305"^^xsd:string) AnnotationAssertion( "NCI:C26788"^^xsd:string) AnnotationAssertion( "ORDO:379"^^xsd:string) AnnotationAssertion( "Bridges-Good syndrome"^^xsd:string) AnnotationAssertion( "CGD"^^xsd:string) AnnotationAssertion( "Quie syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive chronic granulomatous disease"^^xsd:string) AnnotationAssertion( "chronic granulomatous diseases"^^xsd:string) AnnotationAssertion( "congenital dysphagocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3265"^^xsd:string) AnnotationAssertion(rdfs:label "chronic granulomatous disease"^^xsd:string) SubClassOf( ) # Class: (mucinous ovarian cystadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22476372"^^xsd:string) "An ovarian cystadenoma that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4512"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:119422004"^^xsd:string) "mucinous cystadenoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3267"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous ovarian cystadenoma"^^xsd:string) SubClassOf( ) # Class: (ovarian cystadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27244785"^^xsd:string) "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002511"^^xsd:string) AnnotationAssertion( "NCI:C4060"^^xsd:string) AnnotationAssertion( "cystoma serosum simplex"^^xsd:string) AnnotationAssertion( "simple cystoma of ovary"^^xsd:string) AnnotationAssertion( "simple cystoma of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3269"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syringomyelia) AnnotationAssertion(Annotation( "MESH:D013595"^^xsd:string) "Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)"^^xsd:string) AnnotationAssertion( "GARD:7725"^^xsd:string) AnnotationAssertion( "MESH:D013595"^^xsd:string) AnnotationAssertion( "NCI:C85179"^^xsd:string) AnnotationAssertion( "ORDO:3280"^^xsd:string) AnnotationAssertion( "Hydrosyringomyelia"^^xsd:string) AnnotationAssertion( "Morvan Disease"^^xsd:string) AnnotationAssertion( "Morvan Diseases"^^xsd:string) AnnotationAssertion( "Morvan's Disease"^^xsd:string) AnnotationAssertion( "Morvan's Diseases"^^xsd:string) AnnotationAssertion( "Morvans Disease"^^xsd:string) AnnotationAssertion( "Myelosyringoses"^^xsd:string) AnnotationAssertion( "Myelosyringosis"^^xsd:string) AnnotationAssertion( "Syringomyelias"^^xsd:string) AnnotationAssertion( "hydrosyringomyelias"^^xsd:string) AnnotationAssertion( "syringomyelus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:327"^^xsd:string) AnnotationAssertion(rdfs:label "syringomyelia"^^xsd:string) SubClassOf( ) # Class: (proliferative type fibrocystic change of breast) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34967547/"^^xsd:string) "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C8365"^^xsd:string) AnnotationAssertion( "Fibrocystic disease, Proliferative type with Atypia"^^xsd:string) AnnotationAssertion( "Proliferating Lesion of breast without Atypia"^^xsd:string) AnnotationAssertion( "fibrocystic change, proliferative type with atypia"^^xsd:string) AnnotationAssertion( "proliferating lesion of the breast without atypia"^^xsd:string) AnnotationAssertion( "proliferative fibrocystic change"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3274"^^xsd:string) AnnotationAssertion(rdfs:label "proliferative type fibrocystic change of breast"^^xsd:string) SubClassOf( ) # Class: (thymoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/Thymoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Thymoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1"^^xsd:string) "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000581"^^xsd:string) AnnotationAssertion( "ICDO:8580/3"^^xsd:string) AnnotationAssertion( "MESH:D013945"^^xsd:string) AnnotationAssertion( "NCI:C198577"^^xsd:string) AnnotationAssertion( "NCI:C3411"^^xsd:string) AnnotationAssertion( "thymomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3275"^^xsd:string) AnnotationAssertion(rdfs:label "thymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thymus"^^xsd:string) "An immune system cancer located_in the thymus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C37"^^xsd:string) AnnotationAssertion( "ICD9CM:164.0"^^xsd:string) AnnotationAssertion( "NCI:C4962"^^xsd:string) AnnotationAssertion( "cancer of the thymus"^^xsd:string) AnnotationAssertion( "cancer of thymus"^^xsd:string) AnnotationAssertion( "thymic cancer"^^xsd:string) AnnotationAssertion( "thymic cancers"^^xsd:string) AnnotationAssertion( "thymus cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3277"^^xsd:string) AnnotationAssertion(rdfs:label "thymus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (encapsulated thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7386"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3278"^^xsd:string) AnnotationAssertion(rdfs:label "encapsulated thymoma"^^xsd:string) SubClassOf( ) # Class: (spindle cell thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6454"^^xsd:string) AnnotationAssertion( "medullary thymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3279"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell thymoma"^^xsd:string) SubClassOf( ) # Class: (mixed type thymoma) AnnotationAssertion( "EFO:1000582"^^xsd:string) AnnotationAssertion( "NCI:C6885"^^xsd:string) AnnotationAssertion( "type AB thymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3280"^^xsd:string) AnnotationAssertion(rdfs:label "mixed type thymoma"^^xsd:string) SubClassOf( ) # Class: (combined thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3281"^^xsd:string) AnnotationAssertion(rdfs:label "combined thymoma"^^xsd:string) SubClassOf( ) # Class: (thymoma type B) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/"^^xsd:string) "A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7114"^^xsd:string) AnnotationAssertion( "ORDO:263317"^^xsd:string) AnnotationAssertion( "dendritic cell thymoma"^^xsd:string) AnnotationAssertion( "epithelioid thymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3282"^^xsd:string) AnnotationAssertion(rdfs:label "thymoma type B"^^xsd:string) SubClassOf( ) # Class: (invasive malignant thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6453"^^xsd:string) AnnotationAssertion( "NCI:C7904"^^xsd:string) AnnotationAssertion( "infiltrating thymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3283"^^xsd:string) AnnotationAssertion(rdfs:label "invasive malignant thymoma"^^xsd:string) SubClassOf( ) # Class: (thymic carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1"^^xsd:string) "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000576"^^xsd:string) AnnotationAssertion( "EFO:1000580"^^xsd:string) AnnotationAssertion( "ICDO:8586/3"^^xsd:string) AnnotationAssertion( "NCI:C60470"^^xsd:string) AnnotationAssertion( "NCI:C7612"^^xsd:string) AnnotationAssertion( "ORDO:99868"^^xsd:string) AnnotationAssertion( "malignant thymoma"^^xsd:string) AnnotationAssertion( "Thymic Undifferentiated Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3284"^^xsd:string) AnnotationAssertion(rdfs:label "thymic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mpox) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm"^^xsd:string) Annotation( "https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease"^^xsd:string) "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10722"^^xsd:string) AnnotationAssertion( "ICD10CM:B04"^^xsd:string) AnnotationAssertion( "ICD9CM:059.01"^^xsd:string) AnnotationAssertion( "MESH:D045908"^^xsd:string) AnnotationAssertion( "NCI:C128421"^^xsd:string) AnnotationAssertion( "monkey pox"^^xsd:string) AnnotationAssertion( "monkeypox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3292"^^xsd:string) AnnotationAssertion(rdfs:comment "November 2022 WHO name update."^^xsd:string) AnnotationAssertion(rdfs:label "mpox"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vaccinia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vaccinia"^^xsd:string) Annotation( "https://www.cdc.gov/smallpox/clinicians/vaccines.html"^^xsd:string) "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014615"^^xsd:string) AnnotationAssertion( "Vaccinias"^^xsd:string) AnnotationAssertion( "vaccinia infection"^^xsd:string) AnnotationAssertion( "vaccinia infections"^^xsd:string) AnnotationAssertion( "vaccinia virus infection"^^xsd:string) AnnotationAssertion( "vaccinia virus infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3298"^^xsd:string) AnnotationAssertion(rdfs:label "vaccinia"^^xsd:string) SubClassOf( ) # Class: (gonadoblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gonadoblastoma"^^xsd:string) "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). (DO)"^^xsd:string) AnnotationAssertion( "MIM:424500"^^xsd:string) AnnotationAssertion( "ICDO:9073/1"^^xsd:string) AnnotationAssertion( "MESH:D018238"^^xsd:string) AnnotationAssertion( "NCI:C3754"^^xsd:string) AnnotationAssertion( "gonadoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3301"^^xsd:string) AnnotationAssertion(rdfs:label "gonadoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chordoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chordoma"^^xsd:string) "A notochordal cancer that derives_from cellular remnants of the notochord. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215400"^^xsd:string) AnnotationAssertion( "EFO:0000334"^^xsd:string) AnnotationAssertion( "GARD:1303"^^xsd:string) AnnotationAssertion( "MESH:D002817"^^xsd:string) AnnotationAssertion( "MONDO:0008978"^^xsd:string) AnnotationAssertion( "NCI:C2947"^^xsd:string) AnnotationAssertion( "ORDO:178"^^xsd:string) AnnotationAssertion( "CHDM"^^xsd:string) AnnotationAssertion( "chordomas"^^xsd:string) AnnotationAssertion( "notochordoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chordoma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:3302"^^xsd:string) AnnotationAssertion(rdfs:label "chordoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (notochordal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Notochord"^^xsd:string) "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C7063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "notochordal tumor"^^xsd:string) AnnotationAssertion( "DOID:3303"^^xsd:string) AnnotationAssertion(rdfs:label "notochordal cancer"^^xsd:string) SubClassOf( ) # Class: (germinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germinoma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Germinoma"^^xsd:string) "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9064/3"^^xsd:string) AnnotationAssertion( "MESH:D018237"^^xsd:string) AnnotationAssertion( "NCI:C3753"^^xsd:string) AnnotationAssertion( "germinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3304"^^xsd:string) AnnotationAssertion(rdfs:label "germinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (teratocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string) "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9081/3"^^xsd:string) AnnotationAssertion( "MESH:D018243"^^xsd:string) AnnotationAssertion( "NCI:C129859"^^xsd:string) AnnotationAssertion( "NCI:C3756"^^xsd:string) AnnotationAssertion( "mixed embryonal carcinoma and teratoma"^^xsd:string) AnnotationAssertion( "teratocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3305"^^xsd:string) AnnotationAssertion(rdfs:label "teratocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mixed germ cell cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed"^^xsd:string) "A germ cell cancer that occurs in many forms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9085/3"^^xsd:string) AnnotationAssertion( "NCI:C4290"^^xsd:string) AnnotationAssertion( "NCI:C9010"^^xsd:string) AnnotationAssertion( "mixed germ cell neoplasm"^^xsd:string) AnnotationAssertion( "mixed germ cell tumor"^^xsd:string) AnnotationAssertion( "mixed germ cell tumour"^^xsd:string) AnnotationAssertion( "mixed teratoma and Seminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3306"^^xsd:string) AnnotationAssertion(rdfs:label "mixed germ cell cancer"^^xsd:string) SubClassOf( ) # Class: (teratoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Teratoma"^^xsd:string) "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9080/3"^^xsd:string) AnnotationAssertion( "MESH:D013724"^^xsd:string) AnnotationAssertion( "NCI:C3403"^^xsd:string) AnnotationAssertion( "dysembryoma"^^xsd:string) AnnotationAssertion( "dysembryomas"^^xsd:string) AnnotationAssertion( "teratoid tumor"^^xsd:string) AnnotationAssertion( "teratoid tumors"^^xsd:string) AnnotationAssertion( "teratomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3307"^^xsd:string) AnnotationAssertion(rdfs:label "teratoma"^^xsd:string) SubClassOf( ) # Class: (embryonal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_carcinoma"^^xsd:string) "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004986"^^xsd:string) AnnotationAssertion( "GARD:5140"^^xsd:string) AnnotationAssertion( "ICDO:9070/3"^^xsd:string) AnnotationAssertion( "MESH:D018236"^^xsd:string) AnnotationAssertion( "NCI:C3752"^^xsd:string) AnnotationAssertion( "NCI:C8880"^^xsd:string) AnnotationAssertion( "embryonal carcinomas"^^xsd:string) AnnotationAssertion( "primary extragonadal embryonal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3308"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodermatitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634"^^xsd:string) "A dermatitis that is characterized by chronic itching or scaling. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000740"^^xsd:string) AnnotationAssertion( "MESH:D009450"^^xsd:string) AnnotationAssertion( "NCI:C111963"^^xsd:string) AnnotationAssertion( "Circumscribed Neurodermatitis"^^xsd:string) AnnotationAssertion( "Lichen Simplex Chronicus"^^xsd:string) AnnotationAssertion( "Localized Neurodermatitides"^^xsd:string) AnnotationAssertion( "Localized Neurodermatitis"^^xsd:string) AnnotationAssertion( "circumscribed neurodermatitides"^^xsd:string) AnnotationAssertion( "neurodermatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3309"^^xsd:string) AnnotationAssertion(rdfs:label "neurodermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Central_nervous_system_disease"^^xsd:string) "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009386"^^xsd:string) AnnotationAssertion( "ICD10CM:G96.9"^^xsd:string) AnnotationAssertion( "MESH:D002493"^^xsd:string) AnnotationAssertion( "NCI:C2934"^^xsd:string) AnnotationAssertion( "CNS DISORDER"^^xsd:string) AnnotationAssertion( "CNS Disease"^^xsd:string) AnnotationAssertion( "CNS Diseases"^^xsd:string) AnnotationAssertion( "Central Nervous System Disorders"^^xsd:string) AnnotationAssertion( "central nervous system diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:331"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system disease"^^xsd:string) SubClassOf( ) # Class: (atopic dermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Atopic_dermatitis"^^xsd:string) "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000274"^^xsd:string) AnnotationAssertion( "ICD10CM:L20"^^xsd:string) AnnotationAssertion( "MESH:D003876"^^xsd:string) AnnotationAssertion( "MIM:PS603165"^^xsd:string) AnnotationAssertion( "ATOD"^^xsd:string) AnnotationAssertion( "Besnier's prurigo"^^xsd:string) AnnotationAssertion( "allergic dermatitis"^^xsd:string) AnnotationAssertion( "atopic dermatitides"^^xsd:string) AnnotationAssertion( "atopic eczema"^^xsd:string) AnnotationAssertion( "atopic neurodermatitides"^^xsd:string) AnnotationAssertion( "atopic neurodermatitis"^^xsd:string) AnnotationAssertion( "disseminated neurodermatitides"^^xsd:string) AnnotationAssertion( "disseminated neurodermatitis"^^xsd:string) AnnotationAssertion( "infantile eczema"^^xsd:string) AnnotationAssertion( "recalcitrant atopic dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3310"^^xsd:string) AnnotationAssertion(rdfs:label "atopic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bipolar disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "A mood disorder that involves alternating periods of mania and depression. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000289"^^xsd:string) AnnotationAssertion( "GARD:10249"^^xsd:string) AnnotationAssertion( "ICD10CM:F31"^^xsd:string) AnnotationAssertion( "ICD9CM:296.40"^^xsd:string) AnnotationAssertion( "ICD9CM:296.60"^^xsd:string) AnnotationAssertion( "ICD9CM:296.80"^^xsd:string) AnnotationAssertion( "MESH:D000068105"^^xsd:string) AnnotationAssertion( "MESH:D001714"^^xsd:string) AnnotationAssertion( "MONDO:0004985"^^xsd:string) AnnotationAssertion( "NCI:C34423"^^xsd:string) AnnotationAssertion( "NCI:C34424"^^xsd:string) AnnotationAssertion( "NCI:C34805"^^xsd:string) AnnotationAssertion( "BPAD"^^xsd:string) AnnotationAssertion( "Mania"^^xsd:string) AnnotationAssertion( "bipolar affective disorder"^^xsd:string) AnnotationAssertion( "bipolar affective psychoses"^^xsd:string) AnnotationAssertion( "bipolar affective psychosis"^^xsd:string) AnnotationAssertion( "bipolar and related disorders"^^xsd:string) AnnotationAssertion( "bipolar depression"^^xsd:string) AnnotationAssertion( "bipolar disorder manic phase"^^xsd:string) AnnotationAssertion( "bipolar disorders"^^xsd:string) AnnotationAssertion( "depressive-manic psych."^^xsd:string) AnnotationAssertion( "manias"^^xsd:string) AnnotationAssertion( "manic bipolar I disorder"^^xsd:string) AnnotationAssertion( "manic bipolar affective disorder"^^xsd:string) AnnotationAssertion( "manic depression"^^xsd:string) AnnotationAssertion( "manic depressive disorder"^^xsd:string) AnnotationAssertion( "manic depressive psychosis"^^xsd:string) AnnotationAssertion( "manic disorder"^^xsd:string) AnnotationAssertion( "manic disorders"^^xsd:string) AnnotationAssertion( "manic state"^^xsd:string) AnnotationAssertion( "manic states"^^xsd:string) AnnotationAssertion( "manic-depressive psychoses"^^xsd:string) AnnotationAssertion( "mixed bipolar disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:3312"^^xsd:string) AnnotationAssertion(rdfs:label "bipolar disorder"^^xsd:string) SubClassOf( ) # Class: (angiomyolipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angiomyolipoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9503504"^^xsd:string) "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8860/0"^^xsd:string) AnnotationAssertion( "MESH:D018207"^^xsd:string) AnnotationAssertion( "NCI:C3734"^^xsd:string) AnnotationAssertion( "angiomyolipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3314"^^xsd:string) AnnotationAssertion(rdfs:label "angiomyolipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "A cell type benign neoplasm that is composed of lipocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000759"^^xsd:string) AnnotationAssertion( "ICD10CM:D17"^^xsd:string) AnnotationAssertion( "ICD10CM:D17.9"^^xsd:string) AnnotationAssertion( "ICD9CM:214"^^xsd:string) AnnotationAssertion( "ICDO:8850/0"^^xsd:string) AnnotationAssertion( "MESH:D008067"^^xsd:string) AnnotationAssertion( "NCI:C21634"^^xsd:string) AnnotationAssertion( "NCI:C3192"^^xsd:string) AnnotationAssertion( "NCI:C3702"^^xsd:string) AnnotationAssertion( "NCI:C4248"^^xsd:string) AnnotationAssertion( "NCI:C4502"^^xsd:string) AnnotationAssertion( "Atypical Lipoma"^^xsd:string) AnnotationAssertion( "Fatty Tumor"^^xsd:string) AnnotationAssertion( "Fatty Tumors"^^xsd:string) AnnotationAssertion( "Hibernoma"^^xsd:string) AnnotationAssertion( "Hibernomas"^^xsd:string) AnnotationAssertion( "LIPOMATOSIS, FAMILIAL MULTIPLE"^^xsd:string) AnnotationAssertion( "Lipomas"^^xsd:string) AnnotationAssertion( "Lipomata"^^xsd:string) AnnotationAssertion( "Lipomatas"^^xsd:string) AnnotationAssertion( "atypical lipomas"^^xsd:string) AnnotationAssertion( "benign lipomatous tumor"^^xsd:string) AnnotationAssertion( "benign tumor of adipose tissue"^^xsd:string) AnnotationAssertion( "lipomatous neoplasm"^^xsd:string) AnnotationAssertion( "lipomatous tumor"^^xsd:string) AnnotationAssertion( "tumor of adipose tissue"^^xsd:string) AnnotationAssertion( "Lipoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3315"^^xsd:string) AnnotationAssertion(rdfs:label "lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perivascular tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6528"^^xsd:string) AnnotationAssertion( "NCI:C6530"^^xsd:string) AnnotationAssertion( "malignant perivascular cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3316"^^xsd:string) AnnotationAssertion(rdfs:label "perivascular tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic angiomyolipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27485"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3317"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic angiomyolipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelioid type angiomyolipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38151"^^xsd:string) AnnotationAssertion( "epithelioid angiomyolipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3318"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid type angiomyolipoma"^^xsd:string) SubClassOf( ) # Class: (lymphangioleiomyomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31610670/"^^xsd:string) "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606690"^^xsd:string) AnnotationAssertion( "EFO:1000334"^^xsd:string) AnnotationAssertion( "GARD:3319"^^xsd:string) AnnotationAssertion( "ICDO:9174/1"^^xsd:string) AnnotationAssertion( "MESH:D018192"^^xsd:string) AnnotationAssertion( "MONDO:0011705"^^xsd:string) AnnotationAssertion( "NCI:C3725"^^xsd:string) AnnotationAssertion( "NCI:C38153"^^xsd:string) AnnotationAssertion( "ORDO:538"^^xsd:string) AnnotationAssertion( "LAM"^^xsd:string) AnnotationAssertion( "lung lymphangioleiomyomatosis"^^xsd:string) AnnotationAssertion( "lymphangioleiomyomatoses"^^xsd:string) AnnotationAssertion( "lymphangiomyomatoses"^^xsd:string) AnnotationAssertion( "lymphangiomyomatosis"^^xsd:string) AnnotationAssertion( "pulmonary lymphangioleiomyomatosis"^^xsd:string) AnnotationAssertion( "somatic lymphangioleiomyomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3319"^^xsd:string) AnnotationAssertion(rdfs:label "lymphangioleiomyomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amyotrophic lateral sclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm"^^xsd:string) "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000253"^^xsd:string) AnnotationAssertion( "EFO:0001356"^^xsd:string) AnnotationAssertion( "GARD:5786"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.21"^^xsd:string) AnnotationAssertion( "ICD9CM:335.20"^^xsd:string) AnnotationAssertion( "MESH:D000690"^^xsd:string) AnnotationAssertion( "MIM:PS105400"^^xsd:string) AnnotationAssertion( "MONDO:0004976"^^xsd:string) AnnotationAssertion( "NCI:C34373"^^xsd:string) AnnotationAssertion( "ORDO:803"^^xsd:string) AnnotationAssertion( "ALS"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL"^^xsd:string) AnnotationAssertion( "Charcot disease"^^xsd:string) AnnotationAssertion( "Gehrig Disease"^^xsd:string) AnnotationAssertion( "Gehrig's Disease"^^xsd:string) AnnotationAssertion( "Gehrigs Disease"^^xsd:string) AnnotationAssertion( "Lou Gehrig disease"^^xsd:string) AnnotationAssertion( "Lou Gehrig's disease"^^xsd:string) AnnotationAssertion( "Lou-Gehrigs disease"^^xsd:string) AnnotationAssertion( "bulbar motor neuron disease"^^xsd:string) AnnotationAssertion( "motor neuron disease, amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS/FRONTOTEMPORAL DEMENTIA"^^xsd:string) AnnotationAssertion( "amyotrophic lateral sclerosis with dementia"^^xsd:string) AnnotationAssertion( "familial amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Amyotrophic Lateral Sclerosis In Males, Susceptibility To"^^xsd:string) AnnotationAssertion( "Amyotrophic Lateral Sclerosis, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:332"^^xsd:string) AnnotationAssertion(rdfs:label "amyotrophic lateral sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tay-Sachs disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/tay-sachs-disease/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1218/"^^xsd:string) "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272800"^^xsd:string) AnnotationAssertion( "OMIA:001461"^^xsd:string) AnnotationAssertion( "GARD:7737"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.02"^^xsd:string) AnnotationAssertion( "MESH:D013661"^^xsd:string) AnnotationAssertion( "NCI:C85184"^^xsd:string) AnnotationAssertion( "B Variant GM2 Gangliosidosis"^^xsd:string) AnnotationAssertion( "Deficiency Disease Hexosaminidase A"^^xsd:string) AnnotationAssertion( "GM2 Gangliosidosis, Type 1"^^xsd:string) AnnotationAssertion( "GM2-GANGLIOSIDE ACCUMULATION"^^xsd:string) AnnotationAssertion( "GM2-gangliosidoses, variant B"^^xsd:string) AnnotationAssertion( "GM2-gangliosidosis type I"^^xsd:string) AnnotationAssertion( "Gangliosidosis G(M2), Type I"^^xsd:string) AnnotationAssertion( "Gangliosidosis, GM2, type I (B variant)"^^xsd:string) AnnotationAssertion( "Gm2-Gangliosidosis, Chronic"^^xsd:string) AnnotationAssertion( "Gm2-Gangliosidosis, Juvenile"^^xsd:string) AnnotationAssertion( "HexA Deficiency"^^xsd:string) AnnotationAssertion( "Hexosaminidase A Deficiency"^^xsd:string) AnnotationAssertion( "Hexosaminidase alpha Subunit Deficiency (Variant B)"^^xsd:string) AnnotationAssertion( "TSD"^^xsd:string) AnnotationAssertion( "Tay-Sachs sphingolipidosis"^^xsd:string) AnnotationAssertion( "amaurotic familial idiocy"^^xsd:string) AnnotationAssertion( "pseudodeficiency of beta-hexosaminidase A"^^xsd:string) AnnotationAssertion( "GM2-GANGLIOSIDOSIS, VARIANT B1"^^xsd:string) AnnotationAssertion( "HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE"^^xsd:string) AnnotationAssertion( "HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE"^^xsd:string) AnnotationAssertion( "Tay-Sachs disease, juvenile/adult"^^xsd:string) AnnotationAssertion( "Tay-Sachs disease, pseudo-AB variant"^^xsd:string) AnnotationAssertion( "Tay-Sachs disease, variant B"^^xsd:string) AnnotationAssertion( "Tay-Sachs disease, variant B1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hexa, dn Allele"^^xsd:string) AnnotationAssertion( "DOID:3320"^^xsd:string) AnnotationAssertion(rdfs:label "Tay-Sachs disease"^^xsd:string) SubClassOf( ) # Class: (GM2 gangliosidosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant"^^xsd:string) "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.0"^^xsd:string) AnnotationAssertion( "MESH:D020143"^^xsd:string) AnnotationAssertion( "G(M2) Gangliosidoses"^^xsd:string) AnnotationAssertion( "GM2 gangliosidose"^^xsd:string) AnnotationAssertion( "GM2 gangliosidoses"^^xsd:string) AnnotationAssertion( "GM>2< gangliosidosis"^^xsd:string) AnnotationAssertion( "GM2-GANGLIOSIDOSIS, LATE ONSET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3321"^^xsd:string) AnnotationAssertion(rdfs:label "GM2 gangliosidosis"^^xsd:string) SubClassOf( ) # Class: (GM1 gangliosidosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis"^^xsd:string) "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000402"^^xsd:string) AnnotationAssertion( "GARD:10891"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.19"^^xsd:string) AnnotationAssertion( "MESH:D016537"^^xsd:string) AnnotationAssertion( "NCI:C129034"^^xsd:string) AnnotationAssertion( "NCI:C84739"^^xsd:string) AnnotationAssertion( "Beta Galactosidase 1 Deficiency Disease"^^xsd:string) AnnotationAssertion( "Beta Galactosidosis"^^xsd:string) AnnotationAssertion( "Beta-Galactosidase-1 (GLB1) Deficiency"^^xsd:string) AnnotationAssertion( "Deficiencies, GLB1"^^xsd:string) AnnotationAssertion( "GLB1 deficiency"^^xsd:string) AnnotationAssertion( "GM>1< gangliosidosis"^^xsd:string) AnnotationAssertion( "Gangliosidosis G(M1)"^^xsd:string) AnnotationAssertion( "Generalized Gangliosidosis"^^xsd:string) AnnotationAssertion( "Landing syndrome"^^xsd:string) AnnotationAssertion( "beta Galactosidase Deficiency"^^xsd:string) AnnotationAssertion( "beta galactosidase 1 deficiency"^^xsd:string) AnnotationAssertion( "deficiency of beta-galactosidase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3322"^^xsd:string) AnnotationAssertion(rdfs:label "GM1 gangliosidosis"^^xsd:string) SubClassOf( ) # Class: (Sandhoff disease) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/sandhoff-disease"^^xsd:string) "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:268800"^^xsd:string) AnnotationAssertion( "OMIA:001462"^^xsd:string) AnnotationAssertion( "GARD:7604"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.01"^^xsd:string) AnnotationAssertion( "MESH:D012497"^^xsd:string) AnnotationAssertion( "NCI:C85052"^^xsd:string) AnnotationAssertion( "ORDO:796"^^xsd:string) AnnotationAssertion( "GM2 Gangliosidosis, Type 2"^^xsd:string) AnnotationAssertion( "Gangliosidosis, GM2, type II (Sandhoff or variant 0)"^^xsd:string) AnnotationAssertion( "Hexosaminidase A and B Deficiency Disease"^^xsd:string) AnnotationAssertion( "Hexosaminidases A And B Deficiency"^^xsd:string) AnnotationAssertion( "Juvenile Sandhoff Disease"^^xsd:string) AnnotationAssertion( "Sandhoff Disease, Chronic"^^xsd:string) AnnotationAssertion( "Sandhoff Jatzkewitz Pilz Disease"^^xsd:string) AnnotationAssertion( "Sandhoff Jatzkewitz disease"^^xsd:string) AnnotationAssertion( "Sandhoff's Disease"^^xsd:string) AnnotationAssertion( "Sandhoffs Disease"^^xsd:string) AnnotationAssertion( "Total Hexosaminidase Deficiencies"^^xsd:string) AnnotationAssertion( "adult Sandhoff disease"^^xsd:string) AnnotationAssertion( "beta Hexosaminidase beta Subunit Deficiency"^^xsd:string) AnnotationAssertion( "beta-hexosaminidase-beta-subunit deficiencies"^^xsd:string) AnnotationAssertion( "gangliosidosis G(M2), type II"^^xsd:string) AnnotationAssertion( "total hexosaminidase deficiency"^^xsd:string) AnnotationAssertion( "type II GM2-gangliosidoses"^^xsd:string) AnnotationAssertion( "type II GM2-gangliosidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEXOSAMINIDASE B (PARIS)"^^xsd:string) AnnotationAssertion( "DOID:3323"^^xsd:string) AnnotationAssertion(rdfs:label "Sandhoff disease"^^xsd:string) SubClassOf( ) # Class: (mood disorder) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004247"^^xsd:string) AnnotationAssertion( "ICD10CM:F39"^^xsd:string) AnnotationAssertion( "MESH:D019964"^^xsd:string) AnnotationAssertion( "NCI:C92200"^^xsd:string) AnnotationAssertion( "affective disorder"^^xsd:string) AnnotationAssertion( "affective disorders"^^xsd:string) AnnotationAssertion( "episodic mood disorder"^^xsd:string) AnnotationAssertion( "mood disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3324"^^xsd:string) AnnotationAssertion(rdfs:label "mood disorder"^^xsd:string) SubClassOf( ) # Class: (hyperglobulinemic purpura) AnnotationAssertion(Annotation( "MESH:D011694"^^xsd:string) "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years."^^xsd:string) AnnotationAssertion( "EFO:1000972"^^xsd:string) AnnotationAssertion( "MESH:D011694"^^xsd:string) AnnotationAssertion( "Benign Hyperglobulinemic Purpura of Waldenström"^^xsd:string) AnnotationAssertion( "Hypergammaglobulinemic Purpura of Waldenstrom"^^xsd:string) AnnotationAssertion( "Hyperglobulinemic Purpura of Waldenström"^^xsd:string) AnnotationAssertion( "Waldenstrom Hypergammaglobulinemic Purpura"^^xsd:string) AnnotationAssertion( "Waldenstrom hyperglobulinemic purpura"^^xsd:string) AnnotationAssertion( "Waldenström Hyperglobulinemic Purpura"^^xsd:string) AnnotationAssertion( "hyperglobulinemic purpuras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3325"^^xsd:string) AnnotationAssertion(rdfs:label "hyperglobulinemic purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (purpura) AnnotationAssertion(Annotation( "MESH:D011693"^^xsd:string) "Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS)."^^xsd:string) AnnotationAssertion( "ICD10CM:D69.2"^^xsd:string) AnnotationAssertion( "MESH:D011693"^^xsd:string) AnnotationAssertion( "NCI:C78787"^^xsd:string) AnnotationAssertion( "petechiae"^^xsd:string) AnnotationAssertion( "purpuras"^^xsd:string) AnnotationAssertion( "purpuric disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3326"^^xsd:string) AnnotationAssertion(rdfs:label "purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (partial motor epilepsy) AnnotationAssertion(Annotation( "MESH:D020938"^^xsd:string) "A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur."^^xsd:string) AnnotationAssertion( "RDO:0007447"^^xsd:string) AnnotationAssertion( "EFO:1001089"^^xsd:string) AnnotationAssertion( "MESH:D020938"^^xsd:string) AnnotationAssertion( "NCI:C50847"^^xsd:string) AnnotationAssertion( "Focal Clonic Seizures"^^xsd:string) AnnotationAssertion( "Focal Motor Epilepsy"^^xsd:string) AnnotationAssertion( "Focal Tonic Seizure"^^xsd:string) AnnotationAssertion( "Focal Tonic Seizures"^^xsd:string) AnnotationAssertion( "Hemimotor Epilepsies"^^xsd:string) AnnotationAssertion( "Hemimotor Epilepsy"^^xsd:string) AnnotationAssertion( "Hemimotor Seizure Disorder"^^xsd:string) AnnotationAssertion( "Hemimotor Seizure Disorders"^^xsd:string) AnnotationAssertion( "Motor Partial Seizure Disorder"^^xsd:string) AnnotationAssertion( "Motor Seizure Disorder"^^xsd:string) AnnotationAssertion( "Motor Seizure Disorders"^^xsd:string) AnnotationAssertion( "Versive Seizure"^^xsd:string) AnnotationAssertion( "focal clonic seizure"^^xsd:string) AnnotationAssertion( "focal motor seizure"^^xsd:string) AnnotationAssertion( "versive seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3327"^^xsd:string) AnnotationAssertion(rdfs:label "partial motor epilepsy"^^xsd:string) SubClassOf( ) # Class: (temporal lobe epilepsy) AnnotationAssertion(Annotation( "MESH:D004833"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy"^^xsd:string) "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000773"^^xsd:string) AnnotationAssertion( "MESH:D004833"^^xsd:string) AnnotationAssertion( "MIM:PS600512"^^xsd:string) AnnotationAssertion( "NCI:C177244"^^xsd:string) AnnotationAssertion( "TLE"^^xsd:string) AnnotationAssertion( "childhood benign psychomotor epilepsy"^^xsd:string) AnnotationAssertion( "lateral temporal epilepsies"^^xsd:string) AnnotationAssertion( "lateral temporal epilepsy"^^xsd:string) AnnotationAssertion( "temporal lobe epilepsies"^^xsd:string) AnnotationAssertion( "uncinate epilepsies"^^xsd:string) AnnotationAssertion( "uncinate epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3328"^^xsd:string) AnnotationAssertion(rdfs:label "temporal lobe epilepsy"^^xsd:string) SubClassOf( ) # Class: (benign epilepsy with centrotemporal spikes) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19172991/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK534845/"^^xsd:string) "A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117100"^^xsd:string) AnnotationAssertion( "GARD:10287"^^xsd:string) AnnotationAssertion( "MESH:D019305"^^xsd:string) AnnotationAssertion( "ORDO:1945"^^xsd:string) AnnotationAssertion( "BCECTS"^^xsd:string) AnnotationAssertion( "BECTS"^^xsd:string) AnnotationAssertion( "Benign Childhood Epilepsy With Centro Temporal Spikes"^^xsd:string) AnnotationAssertion( "Benign Epilepsy Of Childhood With Centrotemporal Spikes"^^xsd:string) AnnotationAssertion( "Benign Rolandic Epilepsy"^^xsd:string) AnnotationAssertion( "Benign Rolandic Epilepsy of Childhood"^^xsd:string) AnnotationAssertion( "Centralopathic Epilepsy"^^xsd:string) AnnotationAssertion( "Centrotemporal Epilepsies"^^xsd:string) AnnotationAssertion( "Centrotemporal Epilepsy"^^xsd:string) AnnotationAssertion( "ECT"^^xsd:string) AnnotationAssertion( "Rolandic Epilepsies"^^xsd:string) AnnotationAssertion( "Rolandic Epilepsy"^^xsd:string) AnnotationAssertion( "Rolands Epilepsy"^^xsd:string) AnnotationAssertion( "Sylvian Epilepsy"^^xsd:string) AnnotationAssertion( "benign childhood epilepsy with centrotemporal spike"^^xsd:string) AnnotationAssertion( "centralopathic epilepsies"^^xsd:string) AnnotationAssertion( "sylvan seizures"^^xsd:string) AnnotationAssertion( "temporal-central focal epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3329"^^xsd:string) AnnotationAssertion(rdfs:label "benign epilepsy with centrotemporal spikes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (partial sensory epilepsy) AnnotationAssertion(Annotation( "MESH:D020937"^^xsd:string) "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)."^^xsd:string) AnnotationAssertion( "EFO:1001090"^^xsd:string) AnnotationAssertion( "MESH:D020937"^^xsd:string) AnnotationAssertion( "RDO:0007446"^^xsd:string) AnnotationAssertion( "Focal Sensory Seizure"^^xsd:string) AnnotationAssertion( "Focal Sensory Seizures"^^xsd:string) AnnotationAssertion( "Gustatory Partial Seizure"^^xsd:string) AnnotationAssertion( "Gustatory Partial Seizures"^^xsd:string) AnnotationAssertion( "Olfactory Partial Seizure"^^xsd:string) AnnotationAssertion( "Olfactory Partial Seizures"^^xsd:string) AnnotationAssertion( "Partial Sensory Seizure"^^xsd:string) AnnotationAssertion( "Partial Sensory Seizures"^^xsd:string) AnnotationAssertion( "Sensory Epilepsy"^^xsd:string) AnnotationAssertion( "Sensory Focal Seizure Disorder"^^xsd:string) AnnotationAssertion( "Sensory Partial Seizure Disorder"^^xsd:string) AnnotationAssertion( "Sensory Seizure Disorder"^^xsd:string) AnnotationAssertion( "Sensory Seizure Disorders"^^xsd:string) AnnotationAssertion( "Simple Partial Seizures, Special Sensory Symptoms"^^xsd:string) AnnotationAssertion( "Vertiginous Partial Seizure"^^xsd:string) AnnotationAssertion( "Vertiginous Partial Seizures"^^xsd:string) AnnotationAssertion( "Visual Partial Seizure"^^xsd:string) AnnotationAssertion( "Visual Partial Seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3330"^^xsd:string) AnnotationAssertion(rdfs:label "partial sensory epilepsy"^^xsd:string) SubClassOf( ) # Class: (frontal lobe epilepsy) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy"^^xsd:string) "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D017034"^^xsd:string) AnnotationAssertion( "Anterior Fronto-Polar Epilepsy"^^xsd:string) AnnotationAssertion( "Benign Frontal Childhood Epilepsy"^^xsd:string) AnnotationAssertion( "Cingulate Epilepsy"^^xsd:string) AnnotationAssertion( "Frontal Lobe Epilepsies"^^xsd:string) AnnotationAssertion( "Opercular Epilepsies"^^xsd:string) AnnotationAssertion( "Opercular Epilepsy"^^xsd:string) AnnotationAssertion( "Orbito-Frontal Epilepsies"^^xsd:string) AnnotationAssertion( "Orbito-Frontal Epilepsy"^^xsd:string) AnnotationAssertion( "anterior fronto-polar epilepsies"^^xsd:string) AnnotationAssertion( "cingulate epilepsies"^^xsd:string) AnnotationAssertion( "supplementary motor epilepsies"^^xsd:string) AnnotationAssertion( "supplementary motor epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3331"^^xsd:string) AnnotationAssertion(rdfs:label "frontal lobe epilepsy"^^xsd:string) SubClassOf( ) # Class: (haemonchiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Haemonchus_contortus"^^xsd:string) "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007293"^^xsd:string) AnnotationAssertion( "MESH:D006188"^^xsd:string) AnnotationAssertion( "haemonchiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3332"^^xsd:string) AnnotationAssertion(rdfs:label "haemonchiasis"^^xsd:string) SubClassOf( ) # Class: (histrionic personality disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Histrionic_personality_disorder"^^xsd:string) "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F60.4"^^xsd:string) AnnotationAssertion( "ICD9CM:301.5"^^xsd:string) AnnotationAssertion( "MESH:D006677"^^xsd:string) AnnotationAssertion( "NCI:C92634"^^xsd:string) AnnotationAssertion( "Hysterical Personality"^^xsd:string) AnnotationAssertion( "histrionic personality disorders"^^xsd:string) AnnotationAssertion( "hysterical personalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:334"^^xsd:string) AnnotationAssertion(rdfs:label "histrionic personality disorder"^^xsd:string) SubClassOf( ) # Class: (osteitis fibrosa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm"^^xsd:string) "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007413"^^xsd:string) AnnotationAssertion( "MESH:D010002"^^xsd:string) AnnotationAssertion( "NCI:C34875"^^xsd:string) AnnotationAssertion( "Recklinghausen Disease of Bone"^^xsd:string) AnnotationAssertion( "Recklinghausen Disease, Bone"^^xsd:string) AnnotationAssertion( "Recklinghausen's disease of bone"^^xsd:string) AnnotationAssertion( "Recklinghausens Disease, Bone"^^xsd:string) AnnotationAssertion( "hyperparathyroid bone disease"^^xsd:string) AnnotationAssertion( "osteitis fibrosa cystica"^^xsd:string) AnnotationAssertion( "osteitis fibrosa cystica generalisata"^^xsd:string) AnnotationAssertion( "von Recklinghausen's bone disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3341"^^xsd:string) AnnotationAssertion(rdfs:label "osteitis fibrosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone inflammation disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis"^^xsd:string) "A bone disease that results_in inflammation of the located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010000"^^xsd:string) AnnotationAssertion( "Bone Inflammation"^^xsd:string) AnnotationAssertion( "bone inflammatory disease"^^xsd:string) AnnotationAssertion( "inflammatory disorder of bone"^^xsd:string) AnnotationAssertion( "osteitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3342"^^xsd:string) AnnotationAssertion(rdfs:label "bone inflammation disease"^^xsd:string) SubClassOf( ) # Class: (glycoproteinosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sialidosis"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Glycoproteinosis"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract"^^xsd:string) "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)"^^xsd:string) AnnotationAssertion( "GARD:10670"^^xsd:string) AnnotationAssertion( "NCI:C61267"^^xsd:string) AnnotationAssertion( "Glycoprotein Neuraminidase Deficiency"^^xsd:string) AnnotationAssertion( "Mucolipidosis Type III"^^xsd:string) AnnotationAssertion( "Pseudo Hurler Polydystrophy"^^xsd:string) AnnotationAssertion( "Psuedo Hurler Disease"^^xsd:string) AnnotationAssertion( "Sialidoses"^^xsd:string) AnnotationAssertion( "Sialidosis"^^xsd:string) AnnotationAssertion( "cherry red spot myoclonus syndrome"^^xsd:string) AnnotationAssertion( "ganglioside sialidase deficiency disease"^^xsd:string) AnnotationAssertion( "glycoprotein neuraminidase deficiencies"^^xsd:string) AnnotationAssertion( "psuedo-Hurler diseases"^^xsd:string) AnnotationAssertion( "sialolipidoses"^^xsd:string) AnnotationAssertion( "sialolipidosis"^^xsd:string) AnnotationAssertion( "type III mucolipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3343"^^xsd:string) AnnotationAssertion(rdfs:label "glycoproteinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (xanthomatosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Xanthoma"^^xsd:string) "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602247"^^xsd:string) AnnotationAssertion( "EFO:0003075"^^xsd:string) AnnotationAssertion( "MESH:D014973"^^xsd:string) AnnotationAssertion( "Xanthoma"^^xsd:string) AnnotationAssertion( "xanthelasmatosis"^^xsd:string) AnnotationAssertion( "xanthomas"^^xsd:string) AnnotationAssertion( "xanthomatoses"^^xsd:string) AnnotationAssertion( "Xanthelasmas, periorbital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3345"^^xsd:string) AnnotationAssertion(rdfs:label "xanthomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteosarcoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=45395"^^xsd:string) "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). (DO)"^^xsd:string) AnnotationAssertion( "MIM:259500"^^xsd:string) AnnotationAssertion( "EFO:0000637"^^xsd:string) AnnotationAssertion( "GARD:7284"^^xsd:string) AnnotationAssertion( "ICDO:9180/3"^^xsd:string) AnnotationAssertion( "MESH:D012516"^^xsd:string) AnnotationAssertion( "NCI:C120045"^^xsd:string) AnnotationAssertion( "NCI:C24021"^^xsd:string) AnnotationAssertion( "NCI:C60487"^^xsd:string) AnnotationAssertion( "NCI:C9145"^^xsd:string) AnnotationAssertion( "ORDO:668"^^xsd:string) AnnotationAssertion( "OSRC"^^xsd:string) AnnotationAssertion( "OSTEOBLASTIC OSTEOSARCOMA"^^xsd:string) AnnotationAssertion( "osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "osteogenic sarcomas"^^xsd:string) AnnotationAssertion( "osteoid sarcoma"^^xsd:string) AnnotationAssertion( "osteosarcoma tumor"^^xsd:string) AnnotationAssertion( "osteosarcoma tumors"^^xsd:string) AnnotationAssertion( "osteosarcomas"^^xsd:string) AnnotationAssertion( "skeletal sarcoma"^^xsd:string) AnnotationAssertion( "osteosarcoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3347"^^xsd:string) AnnotationAssertion(rdfs:label "osteosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mesenchymal cell neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mesenchymal_cell"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK9549/"^^xsd:string) "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6587"^^xsd:string) AnnotationAssertion( "NCI:C7059"^^xsd:string) AnnotationAssertion( "benign miscellaneous mesenchymal tumor"^^xsd:string) AnnotationAssertion( "mesenchymal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3350"^^xsd:string) AnnotationAssertion(rdfs:label "mesenchymal cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (bone angioendothelial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6479"^^xsd:string) AnnotationAssertion( "osseous hemangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3351"^^xsd:string) AnnotationAssertion(rdfs:label "bone angioendothelial sarcoma"^^xsd:string) SubClassOf( ) # Class: (malignant fibrous histiocytoma of bone) AnnotationAssertion( "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8563"^^xsd:string) AnnotationAssertion( "malignant fibrous histiocytoma of the bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3352"^^xsd:string) AnnotationAssertion(rdfs:label "malignant fibrous histiocytoma of bone"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrosarcoma of bone) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/"^^xsd:string) Annotation( "https://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone"^^xsd:string) "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "fibrosarcoma of the bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3354"^^xsd:string) AnnotationAssertion(rdfs:label "fibrosarcoma of bone"^^xsd:string) SubClassOf( ) # Class: (fibrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string) "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002087"^^xsd:string) AnnotationAssertion( "GARD:2327"^^xsd:string) AnnotationAssertion( "ICDO:8810/3"^^xsd:string) AnnotationAssertion( "MESH:D005354"^^xsd:string) AnnotationAssertion( "NCI:C24017"^^xsd:string) AnnotationAssertion( "NCI:C3043"^^xsd:string) AnnotationAssertion( "NCI:C60403"^^xsd:string) AnnotationAssertion( "NCI:C6605"^^xsd:string) AnnotationAssertion( "NCI:C7075"^^xsd:string) AnnotationAssertion( "fibrocytic tumor"^^xsd:string) AnnotationAssertion( "fibrosarcoma of soft tissue"^^xsd:string) AnnotationAssertion( "fibrosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3355"^^xsd:string) AnnotationAssertion(rdfs:label "fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (localized osteosarcoma) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html"^^xsd:string) "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7780"^^xsd:string) AnnotationAssertion( "localised osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "localised osteosarcoma"^^xsd:string) AnnotationAssertion( "localized osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3356"^^xsd:string) AnnotationAssertion(rdfs:label "localized osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (extraosseous osteosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/"^^xsd:string) "An osteosarcoma arising from the soft tissue. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C8810"^^xsd:string) AnnotationAssertion( "extraskeletal osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "extraskeletal osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3357"^^xsd:string) AnnotationAssertion(rdfs:label "extraosseous osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (multifocal osteogenic sarcoma) AnnotationAssertion( "NCI:C6470"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3360"^^xsd:string) AnnotationAssertion(rdfs:label "multifocal osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (childhood osteosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6585"^^xsd:string) AnnotationAssertion( "pediatric osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3361"^^xsd:string) AnnotationAssertion(rdfs:label "childhood osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (coronary aneurysm) AnnotationAssertion(Annotation( "MESH:D003323"^^xsd:string) "Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE."^^xsd:string) AnnotationAssertion( "EFO:1000881"^^xsd:string) AnnotationAssertion( "GARD:6200"^^xsd:string) AnnotationAssertion( "ICD10CM:I25.41"^^xsd:string) AnnotationAssertion( "ICD9CM:414.11"^^xsd:string) AnnotationAssertion( "MESH:D003323"^^xsd:string) AnnotationAssertion( "NCI:C168176"^^xsd:string) AnnotationAssertion( "Aneurysmal lesion of coronary artery"^^xsd:string) AnnotationAssertion( "Coronary Aneurysms"^^xsd:string) AnnotationAssertion( "aneurysm of coronary vessels"^^xsd:string) AnnotationAssertion( "arteriovenous aneurysm of coronary vessels"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3362"^^xsd:string) AnnotationAssertion(rdfs:label "coronary aneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone leiomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7154"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3367"^^xsd:string) AnnotationAssertion(rdfs:label "bone leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ewing sarcoma of bone) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ewing%27s_sarcoma"^^xsd:string) "A peripheral primitive neuroectodermal tumor that is located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35871"^^xsd:string) AnnotationAssertion( "NCI:C4835"^^xsd:string) AnnotationAssertion( "NCI:C6623"^^xsd:string) AnnotationAssertion( "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "bone Ewing sarcoma"^^xsd:string) AnnotationAssertion( "bone Ewing's sarcoma"^^xsd:string) AnnotationAssertion( "bone localized Ewing sarcoma"^^xsd:string) AnnotationAssertion( "bone localized Ewing's sarcoma"^^xsd:string) AnnotationAssertion( "localized skeletal Ewing's sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ewing's sarcoma of bone"^^xsd:string) AnnotationAssertion( "skeletal Ewing's tumor"^^xsd:string) AnnotationAssertion( "DOID:3368"^^xsd:string) AnnotationAssertion(rdfs:label "Ewing sarcoma of bone"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ewing sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=383924"^^xsd:string) "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. (DO)"^^xsd:string) AnnotationAssertion( "MIM:612219"^^xsd:string) AnnotationAssertion( "EFO:0000173"^^xsd:string) AnnotationAssertion( "EFO:0000174"^^xsd:string) AnnotationAssertion( "GARD:6390"^^xsd:string) AnnotationAssertion( "ICDO:9364/3"^^xsd:string) AnnotationAssertion( "MESH:D012512"^^xsd:string) AnnotationAssertion( "NCI:C27901"^^xsd:string) AnnotationAssertion( "NCI:C27903"^^xsd:string) AnnotationAssertion( "NCI:C4817"^^xsd:string) AnnotationAssertion( "NCI:C7542"^^xsd:string) AnnotationAssertion( "NCI:C7806"^^xsd:string) AnnotationAssertion( "NCI:C9341"^^xsd:string) AnnotationAssertion( "ES"^^xsd:string) AnnotationAssertion( "Ewing Tumor"^^xsd:string) AnnotationAssertion( "Ewing's Sarcoma"^^xsd:string) AnnotationAssertion( "Ewing's Tumor"^^xsd:string) AnnotationAssertion( "Ewing's family localized tumor"^^xsd:string) AnnotationAssertion( "Ewing's sarcoma/peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "Ewings Sarcoma"^^xsd:string) AnnotationAssertion( "Ewings Tumor"^^xsd:string) AnnotationAssertion( "Ewings sarcoma-primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "PNET of thoracopulmonary region"^^xsd:string) AnnotationAssertion( "peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "ASKIN TUMOR"^^xsd:string) AnnotationAssertion( "NEUROEPITHELIOMA, PERIPHERAL"^^xsd:string) AnnotationAssertion( "PNE"^^xsd:string) AnnotationAssertion( "localized Ewing sarcoma"^^xsd:string) AnnotationAssertion( "localized Ewing's sarcoma"^^xsd:string) AnnotationAssertion( "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "localized Ewing's tumor"^^xsd:string) AnnotationAssertion( "localized peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CD99 POSITIVE NEOPLASTIC CELLS PRESENT"^^xsd:string) AnnotationAssertion( "DOID:3369"^^xsd:string) AnnotationAssertion(rdfs:label "Ewing sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal accessory nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5829"^^xsd:string) AnnotationAssertion( "XIth cranial nerve tumors"^^xsd:string) AnnotationAssertion( "neoplasm of accessory nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:337"^^xsd:string) AnnotationAssertion(rdfs:label "spinal accessory nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (chondrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chondrosarcoma"^^xsd:string) "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. (DO)"^^xsd:string) AnnotationAssertion( "MIM:215300"^^xsd:string) AnnotationAssertion( "EFO:0000333"^^xsd:string) AnnotationAssertion( "GARD:6004"^^xsd:string) AnnotationAssertion( "GARD:6055"^^xsd:string) AnnotationAssertion( "ICDO:9220/3"^^xsd:string) AnnotationAssertion( "MESH:D002813"^^xsd:string) AnnotationAssertion( "NCI:C24018"^^xsd:string) AnnotationAssertion( "NCI:C2946"^^xsd:string) AnnotationAssertion( "NCI:C60376"^^xsd:string) AnnotationAssertion( "NCI:C7155"^^xsd:string) AnnotationAssertion( "Cartilaginous cancer"^^xsd:string) AnnotationAssertion( "Chondrosarcomas"^^xsd:string) AnnotationAssertion( "chondrosarcoma of bone"^^xsd:string) AnnotationAssertion( "primary chondrosarcoma of the bone"^^xsd:string) AnnotationAssertion( "chondrosarcoma, somatic"^^xsd:string) AnnotationAssertion( "chondrosarcoma, sporadic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3371"^^xsd:string) AnnotationAssertion(rdfs:label "chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (chondroblastic osteosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9181/3"^^xsd:string) AnnotationAssertion( "NCI:C4021"^^xsd:string) AnnotationAssertion( "chondrosarcomatous osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3372"^^xsd:string) AnnotationAssertion(rdfs:label "chondroblastic osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (parosteal osteosarcoma) AnnotationAssertion( "A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001000"^^xsd:string) AnnotationAssertion( "ICDO:9192/3"^^xsd:string) AnnotationAssertion( "MESH:D018217"^^xsd:string) AnnotationAssertion( "NCI:C8969"^^xsd:string) AnnotationAssertion( "juxtacortical osteosarcoma"^^xsd:string) AnnotationAssertion( "juxtacortical osteosarcomas"^^xsd:string) AnnotationAssertion( "parosteal osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3373"^^xsd:string) AnnotationAssertion(rdfs:label "parosteal osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (peripheral osteosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003221"^^xsd:string) AnnotationAssertion( "EFO:1000296"^^xsd:string) AnnotationAssertion( "NCI:C7134"^^xsd:string) AnnotationAssertion( "surface osteosarcoma"^^xsd:string) AnnotationAssertion( "High Grade Surface Osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3374"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (bone osteosarcoma) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma"^^xsd:string) "An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. (DO)"^^xsd:string) AnnotationAssertion( "DOID:8580"^^xsd:string) AnnotationAssertion( "NCI:C53707"^^xsd:string) AnnotationAssertion( "osteosarcoma of bone"^^xsd:string) AnnotationAssertion( "primary osteosarcoma of bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3376"^^xsd:string) AnnotationAssertion(rdfs:label "bone osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (small cell osteogenic sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4023"^^xsd:string) AnnotationAssertion( "round cell osteosarcoma"^^xsd:string) AnnotationAssertion( "small cell osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3377"^^xsd:string) AnnotationAssertion(rdfs:label "small cell osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (metachronous osteosarcoma of the bone) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38157"^^xsd:string) AnnotationAssertion( "RDO:9003226"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3379"^^xsd:string) AnnotationAssertion(rdfs:label "metachronous osteosarcoma of the bone"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (liposarcoma of bone) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7598"^^xsd:string) AnnotationAssertion( "liposarcoma of the bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3381"^^xsd:string) AnnotationAssertion(rdfs:label "liposarcoma of bone"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (liposarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Liposarcoma"^^xsd:string) "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. (DO)"^^xsd:string) AnnotationAssertion( "DOID:3939"^^xsd:string) AnnotationAssertion( "EFO:0000569"^^xsd:string) AnnotationAssertion( "GARD:6913"^^xsd:string) AnnotationAssertion( "ICDO:8850/3"^^xsd:string) AnnotationAssertion( "MESH:D008080"^^xsd:string) AnnotationAssertion( "NCI:C3194"^^xsd:string) AnnotationAssertion( "NCI:C4501"^^xsd:string) AnnotationAssertion( "NCI:C60434"^^xsd:string) AnnotationAssertion( "ORDO:69078"^^xsd:string) AnnotationAssertion( "lipomatous cancer"^^xsd:string) AnnotationAssertion( "liposarcomas"^^xsd:string) AnnotationAssertion( "malignant lipomatous tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of Adipose tissue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3382"^^xsd:string) AnnotationAssertion(rdfs:label "liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bacterial vaginosis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis"^^xsd:string) "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003932"^^xsd:string) AnnotationAssertion( "MESH:D016585"^^xsd:string) AnnotationAssertion( "NCI:C116973"^^xsd:string) AnnotationAssertion( "Bacterial Vaginitides"^^xsd:string) AnnotationAssertion( "Bacterial Vaginitis"^^xsd:string) AnnotationAssertion( "Bacterial Vaginoses"^^xsd:string) AnnotationAssertion( "Nonspecific Vaginitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3385"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial vaginosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periodontal disease) AnnotationAssertion(Annotation( "https://www.nidcr.nih.gov/health-info/gum-disease/more-info"^^xsd:string) "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010693"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.6"^^xsd:string) AnnotationAssertion( "MESH:D010510"^^xsd:string) AnnotationAssertion( "NCI:C63743"^^xsd:string) AnnotationAssertion( "disease of supporting structures of teeth"^^xsd:string) AnnotationAssertion( "parodontoses"^^xsd:string) AnnotationAssertion( "parodontosis"^^xsd:string) AnnotationAssertion( "periodontal diseases"^^xsd:string) AnnotationAssertion( "periodontium disorder"^^xsd:string) AnnotationAssertion( "pyorrhea alveolaris"^^xsd:string) AnnotationAssertion( "tooth-supporting structures disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3388"^^xsd:string) AnnotationAssertion(rdfs:label "periodontal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Papillon-Lefevre disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/"^^xsd:string) "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:245000"^^xsd:string) AnnotationAssertion( "GARD:3100"^^xsd:string) AnnotationAssertion( "MESH:D010214"^^xsd:string) AnnotationAssertion( "NCI:C84992"^^xsd:string) AnnotationAssertion( "ORDO:678"^^xsd:string) AnnotationAssertion( "Haim Monk Syndrome"^^xsd:string) AnnotationAssertion( "PALS"^^xsd:string) AnnotationAssertion( "PLS"^^xsd:string) AnnotationAssertion( "Papillon Lefevre syndrome"^^xsd:string) AnnotationAssertion( "Papillon-Lefvre syndrome"^^xsd:string) AnnotationAssertion( "Papillon-Lefèvre syndrome"^^xsd:string) AnnotationAssertion( "keratosis palmoplantar periodontopathies"^^xsd:string) AnnotationAssertion( "keratosis palmoplantar periodontopathy"^^xsd:string) AnnotationAssertion( "keratosis palmoplantaris with periodontopathia"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma with periodontitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3389"^^xsd:string) AnnotationAssertion(rdfs:label "Papillon-Lefevre disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (accessory nerve disease) AnnotationAssertion(Annotation( "MESH:D020436"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Accessory_nerve_disorder"^^xsd:string) "A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:352.4"^^xsd:string) AnnotationAssertion( "MESH:D020436"^^xsd:string) AnnotationAssertion( "NCI:C26953"^^xsd:string) AnnotationAssertion( "Cranial Nerve Eleven Disorders"^^xsd:string) AnnotationAssertion( "Cranial Nerve XI Diseases"^^xsd:string) AnnotationAssertion( "Eleventh Cranial Nerve Disease"^^xsd:string) AnnotationAssertion( "accessory nerve diseases"^^xsd:string) AnnotationAssertion( "cranial nerve eleven diseases"^^xsd:string) AnnotationAssertion( "disorder of 11th nerve"^^xsd:string) AnnotationAssertion( "disorder of accessory [11th] nerve"^^xsd:string) AnnotationAssertion( "disorder of accessory nerve"^^xsd:string) AnnotationAssertion( "eleventh nerve disorder"^^xsd:string) AnnotationAssertion( "spinal accessory nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:339"^^xsd:string) AnnotationAssertion(rdfs:label "accessory nerve disease"^^xsd:string) SubClassOf( ) # Class: (palmoplantar keratosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Palmoplantar_keratoderma"^^xsd:string) "A keratosis characterized by abnormal thickening of the palms and the soles. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001327"^^xsd:string) AnnotationAssertion( "EFO:1000745"^^xsd:string) AnnotationAssertion( "GARD:8167"^^xsd:string) AnnotationAssertion( "ICD10CM:L85.2"^^xsd:string) AnnotationAssertion( "MESH:D007645"^^xsd:string) AnnotationAssertion( "NCI:C34748"^^xsd:string) AnnotationAssertion( "Hyperkeratosis Palmaris et Plantaris"^^xsd:string) AnnotationAssertion( "Keratosis Palmaris et Plantaris"^^xsd:string) AnnotationAssertion( "Palmoplantar Keratoderma"^^xsd:string) AnnotationAssertion( "Palmoplantar Keratodermas"^^xsd:string) AnnotationAssertion( "Palmoplantar Keratoses"^^xsd:string) AnnotationAssertion( "palmo-plantar keratodermas"^^xsd:string) AnnotationAssertion( "Unna-Thost disease"^^xsd:string) AnnotationAssertion( "Unna-Thost keratoderma"^^xsd:string) AnnotationAssertion( "Unna-Thost syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3390"^^xsd:string) AnnotationAssertion(rdfs:label "palmoplantar keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronary artery disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Coronary_heart_disease"^^xsd:string) "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000378"^^xsd:string) AnnotationAssertion( "EFO:0001645"^^xsd:string) AnnotationAssertion( "ICD10CM:I20-I25"^^xsd:string) AnnotationAssertion( "ICD10CM:I25"^^xsd:string) AnnotationAssertion( "ICD10CM:I25.10"^^xsd:string) AnnotationAssertion( "ICD9CM:410-414.99"^^xsd:string) AnnotationAssertion( "ICD9CM:414.0"^^xsd:string) AnnotationAssertion( "ICD9CM:414.9"^^xsd:string) AnnotationAssertion( "MESH:D003324"^^xsd:string) AnnotationAssertion( "MONDO:0021661"^^xsd:string) AnnotationAssertion( "NCI:C26732"^^xsd:string) AnnotationAssertion( "NCI:C35505"^^xsd:string) AnnotationAssertion( "NCI:C50625"^^xsd:string) AnnotationAssertion( "Coronary Arterioscleroses"^^xsd:string) AnnotationAssertion( "Coronary Arteriosclerosis"^^xsd:string) AnnotationAssertion( "Coronary Artery Diseases"^^xsd:string) AnnotationAssertion( "Coronary Atheroscleroses"^^xsd:string) AnnotationAssertion( "Coronary Atherosclerosis"^^xsd:string) AnnotationAssertion( "PREMATURE CORONARY ARTERY ATHEROSCLEROSIS"^^xsd:string) AnnotationAssertion( "Premature coronary artery disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Coronary artery disease, modifier of"^^xsd:string) AnnotationAssertion( "Coronary artery spasm 2, susceptibility to"^^xsd:string) AnnotationAssertion( "LIPOPROTEIN(A) POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:3393"^^xsd:string) AnnotationAssertion(rdfs:label "coronary artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inappropriate ADH syndrome) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000314.htm"^^xsd:string) "A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000982"^^xsd:string) AnnotationAssertion( "ICD10CM:E22.2"^^xsd:string) AnnotationAssertion( "MESH:D007177"^^xsd:string) AnnotationAssertion( "NCI:C3988"^^xsd:string) AnnotationAssertion( "Antidiuretic Hormone, Inappropriate Secretion"^^xsd:string) AnnotationAssertion( "Inappropriate Vasopressin Secretion Syndrome"^^xsd:string) AnnotationAssertion( "SIADH"^^xsd:string) AnnotationAssertion( "Schwartz Bartter Syndrome"^^xsd:string) AnnotationAssertion( "syndrome of inappropriate ADH (SIADH) secretion"^^xsd:string) AnnotationAssertion( "syndrome of inappropriate antidiuretic hormone secretion"^^xsd:string) AnnotationAssertion( "syndrome of inappropriate secretion of ADH"^^xsd:string) AnnotationAssertion( "syndrome of inappropriate secretion of antidiuretic hormone"^^xsd:string) AnnotationAssertion( "syndrome of inappropriate vasopressin secretion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3401"^^xsd:string) AnnotationAssertion(rdfs:label "inappropriate ADH syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (histiocytosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Histiocytosis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm"^^xsd:string) "A lymphatic system disease that is characterized by an excessive number of histiocytes. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D015614"^^xsd:string) AnnotationAssertion( "NCI:C3106"^^xsd:string) AnnotationAssertion( "Hand Schuller Christian disease"^^xsd:string) AnnotationAssertion( "chronic histiocytosis X"^^xsd:string) AnnotationAssertion( "histiocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3405"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytosis"^^xsd:string) SubClassOf( ) # Class: (carotid artery disease) AnnotationAssertion(Annotation( "MESH:D002340"^^xsd:string) "Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."^^xsd:string) AnnotationAssertion( "EFO:0003781"^^xsd:string) AnnotationAssertion( "MESH:D002340"^^xsd:string) AnnotationAssertion( "NCI:C84476"^^xsd:string) AnnotationAssertion( "Carotid Arterial Disease"^^xsd:string) AnnotationAssertion( "Carotid Arterial Diseases"^^xsd:string) AnnotationAssertion( "Carotid Artery Disorder"^^xsd:string) AnnotationAssertion( "Carotid Artery Disorders"^^xsd:string) AnnotationAssertion( "Carotid Atherosclerotic Disease"^^xsd:string) AnnotationAssertion( "Carotid Atherosclerotic Diseases"^^xsd:string) AnnotationAssertion( "carotid artery diseases"^^xsd:string) AnnotationAssertion( "common carotid arterial diseases"^^xsd:string) AnnotationAssertion( "common carotid artery diseases"^^xsd:string) AnnotationAssertion( "disorder of carotid artery"^^xsd:string) AnnotationAssertion( "external carotid arterial diseases"^^xsd:string) AnnotationAssertion( "external carotid artery diseases"^^xsd:string) AnnotationAssertion( "internal carotid arterial diseases"^^xsd:string) AnnotationAssertion( "internal carotid artery diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3407"^^xsd:string) AnnotationAssertion(rdfs:label "carotid artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral vascular disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peripheral_vascular_disease"^^xsd:string) "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003875"^^xsd:string) AnnotationAssertion( "ICD9CM:443.81"^^xsd:string) AnnotationAssertion( "MESH:D016491"^^xsd:string) AnnotationAssertion( "peripheral angiopathies"^^xsd:string) AnnotationAssertion( "peripheral angiopathy"^^xsd:string) AnnotationAssertion( "peripheral vascular diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:341"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral vascular disease"^^xsd:string) SubClassOf( ) # Class: (carotid artery thrombosis) AnnotationAssertion(Annotation( "MESH:D002341"^^xsd:string) "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX."^^xsd:string) AnnotationAssertion( "EFO:1000853"^^xsd:string) AnnotationAssertion( "MESH:D002341"^^xsd:string) AnnotationAssertion( "Carotid Thrombosis"^^xsd:string) AnnotationAssertion( "Common Carotid Artery Thrombosis"^^xsd:string) AnnotationAssertion( "External Carotid Artery Thrombosis"^^xsd:string) AnnotationAssertion( "carotid artery thromboses"^^xsd:string) AnnotationAssertion( "internal carotid artery thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3410"^^xsd:string) AnnotationAssertion(rdfs:label "carotid artery thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alpha-mannosidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alpha-mannosidosis"^^xsd:string) "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6968"^^xsd:string) AnnotationAssertion( "MESH:D008363"^^xsd:string) AnnotationAssertion( "MIM:248500"^^xsd:string) AnnotationAssertion( "MONDO:0009561"^^xsd:string) AnnotationAssertion( "NCI:C84548"^^xsd:string) AnnotationAssertion( "Alpha-Mannosidosis, Type I"^^xsd:string) AnnotationAssertion( "Lysosomal Alpha B Mannosidosis"^^xsd:string) AnnotationAssertion( "MANSA"^^xsd:string) AnnotationAssertion( "alpha Mannosidase Deficiency"^^xsd:string) AnnotationAssertion( "alpha mannosidase B deficiency"^^xsd:string) AnnotationAssertion( "alpha-D-mannosidosis"^^xsd:string) AnnotationAssertion( "alpha-Mannosidase Deficiencies"^^xsd:string) AnnotationAssertion( "alpha-Mannosidoses"^^xsd:string) AnnotationAssertion( "deficiency of alpha-mannosidase"^^xsd:string) AnnotationAssertion( "lysosomal alpha D mannosidase deficiency"^^xsd:string) AnnotationAssertion( "lysosomal alpha-D-mannosidase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3413"^^xsd:string) AnnotationAssertion(rdfs:label "alpha-mannosidosis"^^xsd:string) SubClassOf( ) # Class: (glossopharyngeal nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5828"^^xsd:string) AnnotationAssertion( "neoplasm of glossopharyngeal nerve"^^xsd:string) AnnotationAssertion( "tumor of glossopharyngeal nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3417"^^xsd:string) AnnotationAssertion(rdfs:label "glossopharyngeal nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (glossopharyngeal nerve disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases"^^xsd:string) "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G52"^^xsd:string) AnnotationAssertion( "ICD9CM:352"^^xsd:string) AnnotationAssertion( "MESH:D020435"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Sensory Neuropathy"^^xsd:string) AnnotationAssertion( "cranial nerve IX diseases"^^xsd:string) AnnotationAssertion( "cranial nerve IX disorders"^^xsd:string) AnnotationAssertion( "glossopharyngeal nerve diseases"^^xsd:string) AnnotationAssertion( "glossopharyngeal nerve taste disorder"^^xsd:string) AnnotationAssertion( "ninth cranial nerve disease"^^xsd:string) AnnotationAssertion( "ninth cranial nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3418"^^xsd:string) AnnotationAssertion(rdfs:label "glossopharyngeal nerve disease"^^xsd:string) SubClassOf( ) # Class: (optic nerve neoplasm) AnnotationAssertion( "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain."^^xsd:string) AnnotationAssertion( "EFO:1001073"^^xsd:string) AnnotationAssertion( "MESH:D019574"^^xsd:string) AnnotationAssertion( "NCI:C4801"^^xsd:string) AnnotationAssertion( "Benign Optic Nerve Neoplasm"^^xsd:string) AnnotationAssertion( "Benign Optic Nerve Tumor"^^xsd:string) AnnotationAssertion( "Malignant Optic Nerve Neoplasm"^^xsd:string) AnnotationAssertion( "benign optic nerve sheath neoplasms"^^xsd:string) AnnotationAssertion( "benign optic nerve sheath tumors"^^xsd:string) AnnotationAssertion( "malignant optic nerve sheath neoplasms"^^xsd:string) AnnotationAssertion( "malignant optic nerve sheath tumors"^^xsd:string) AnnotationAssertion( "malignant optic nerve tumor"^^xsd:string) AnnotationAssertion( "neoplasm of optic nerve"^^xsd:string) AnnotationAssertion( "optic nerve neoplasms"^^xsd:string) AnnotationAssertion( "optic nerve sheath neoplasm"^^xsd:string) AnnotationAssertion( "optic nerve sheath tumors"^^xsd:string) AnnotationAssertion( "tumor of second cranial nerve"^^xsd:string) AnnotationAssertion( "tumour of optic nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3419"^^xsd:string) AnnotationAssertion(rdfs:label "optic nerve neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subclavian artery aneurysm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:442.82"^^xsd:string) AnnotationAssertion( "RDO:9002821"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:342"^^xsd:string) AnnotationAssertion(rdfs:label "subclavian artery aneurysm"^^xsd:string) SubClassOf( ) # Class: (trochlear nerve neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5825"^^xsd:string) AnnotationAssertion( "neoplasm of trochlear nerve"^^xsd:string) AnnotationAssertion( "tumor of trochlear nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3421"^^xsd:string) AnnotationAssertion(rdfs:label "trochlear nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (vestibular disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders"^^xsd:string) "An inner ear disease that is located in the vestibular system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009691"^^xsd:string) AnnotationAssertion( "ICD10CM:H81.9"^^xsd:string) AnnotationAssertion( "MESH:D015837"^^xsd:string) AnnotationAssertion( "vertigo, vestibular disorder"^^xsd:string) AnnotationAssertion( "vestibular diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3426"^^xsd:string) AnnotationAssertion(rdfs:label "vestibular disease"^^xsd:string) SubClassOf( ) # Class: (granulomatous myositis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27575"^^xsd:string) AnnotationAssertion( "RDO:9003142"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3428"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous myositis"^^xsd:string) SubClassOf( ) # Class: (inclusion body myositis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inclusion_body_myositis"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy"^^xsd:string) "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. (DO)"^^xsd:string) AnnotationAssertion( "MIM:147421"^^xsd:string) AnnotationAssertion( "EFO:0007323"^^xsd:string) AnnotationAssertion( "GARD:3896"^^xsd:string) AnnotationAssertion( "ICD10CM:G72.41"^^xsd:string) AnnotationAssertion( "ICD9CM:359.71"^^xsd:string) AnnotationAssertion( "MESH:D018979"^^xsd:string) AnnotationAssertion( "MONDO:0007827"^^xsd:string) AnnotationAssertion( "NCI:C84786"^^xsd:string) AnnotationAssertion( "ORDO:611"^^xsd:string) AnnotationAssertion( "HIBM"^^xsd:string) AnnotationAssertion( "Hereditary Inclusion Body Myopathy"^^xsd:string) AnnotationAssertion( "IBM"^^xsd:string) AnnotationAssertion( "inclusion body myositides"^^xsd:string) AnnotationAssertion( "sporadic inclusion body myopathy"^^xsd:string) AnnotationAssertion( "sporadic inclusion body myositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3429"^^xsd:string) AnnotationAssertion(rdfs:label "inclusion body myositis"^^xsd:string) SubClassOf( ) # Class: (cerebritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebritis"^^xsd:string) "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27199"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3431"^^xsd:string) AnnotationAssertion(rdfs:label "cerebritis"^^xsd:string) SubClassOf( ) # Class: (viral laryngitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec08/ch092/ch092d.html"^^xsd:string) "A acute laryngitis which is caused by viral infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27305"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3436"^^xsd:string) AnnotationAssertion(rdfs:label "viral laryngitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string) "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007827"^^xsd:string) AnnotationAssertion( "NCI:C26811"^^xsd:string) AnnotationAssertion( "laryngitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3437"^^xsd:string) AnnotationAssertion(rdfs:label "laryngitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mammary Paget's disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/"^^xsd:string) "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010144"^^xsd:string) AnnotationAssertion( "NCI:C7073"^^xsd:string) AnnotationAssertion( "Mammary Pagets Disease"^^xsd:string) AnnotationAssertion( "Paget Disease of Breast"^^xsd:string) AnnotationAssertion( "Paget Disease, Breast"^^xsd:string) AnnotationAssertion( "Paget cell neoplasm"^^xsd:string) AnnotationAssertion( "Paget's Disease of Breast"^^xsd:string) AnnotationAssertion( "Paget's Disease of the Breast"^^xsd:string) AnnotationAssertion( "Paget's Disease of the Nipple"^^xsd:string) AnnotationAssertion( "Paget's Disease of the Nipple and Areola"^^xsd:string) AnnotationAssertion( "Paget's disease"^^xsd:string) AnnotationAssertion( "Pagets Disease, Breast"^^xsd:string) AnnotationAssertion( "mammary Paget disease"^^xsd:string) AnnotationAssertion( "pigmented mammary Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3443"^^xsd:string) AnnotationAssertion(rdfs:label "mammary Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (scrotum Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7728"^^xsd:string) AnnotationAssertion( "Paget's disease of scrotum"^^xsd:string) AnnotationAssertion( "scrotum Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3444"^^xsd:string) AnnotationAssertion(rdfs:label "scrotum Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scrotal carcinoma) AnnotationAssertion( "NCI:C6389"^^xsd:string) AnnotationAssertion( "carcinoma of scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3445"^^xsd:string) AnnotationAssertion(rdfs:label "scrotal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5598"^^xsd:string) AnnotationAssertion( "Paget's disease of anus"^^xsd:string) AnnotationAssertion( "Paget's disease of the anus"^^xsd:string) AnnotationAssertion( "anal Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3446"^^xsd:string) AnnotationAssertion(rdfs:label "anal Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anus adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5600"^^xsd:string) AnnotationAssertion( "RDO:9004070"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5600"^^xsd:string) "adenocarcinoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the anus"^^xsd:string) AnnotationAssertion( "DOID:3447"^^xsd:string) AnnotationAssertion(rdfs:label "anus adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penis Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27817"^^xsd:string) AnnotationAssertion( "Paget's disease of penis"^^xsd:string) AnnotationAssertion( "penis Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3448"^^xsd:string) AnnotationAssertion(rdfs:label "penis Paget's disease"^^xsd:string) SubClassOf( ) # Class: (penis carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma_of_the_penis"^^xsd:string) "A penile cancer that is located_in the skin or tissues of the penis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005575"^^xsd:string) AnnotationAssertion( "EFO:1000465"^^xsd:string) AnnotationAssertion( "MONDO:0006360"^^xsd:string) AnnotationAssertion( "NCI:C9061"^^xsd:string) AnnotationAssertion( "carcinoma of penis"^^xsd:string) AnnotationAssertion( "penile carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3449"^^xsd:string) AnnotationAssertion(rdfs:label "penis carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine disease) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/dictionary/uterus"^^xsd:string) "A female reproductive system disease that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N85.9"^^xsd:string) AnnotationAssertion( "ICD9CM:621.9"^^xsd:string) AnnotationAssertion( "MESH:D014591"^^xsd:string) AnnotationAssertion( "NCI:C26907"^^xsd:string) AnnotationAssertion( "uterine diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:345"^^xsd:string) AnnotationAssertion(rdfs:label "uterine disease"^^xsd:string) SubClassOf( ) # Class: (cutaneous Paget's disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE"^^xsd:string) "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. (DO)"^^xsd:string) AnnotationAssertion( "MIM:167300"^^xsd:string) AnnotationAssertion( "EFO:1000249"^^xsd:string) AnnotationAssertion( "MESH:D010145"^^xsd:string) AnnotationAssertion( "MONDO:0002655"^^xsd:string) AnnotationAssertion( "NCI:C3302"^^xsd:string) AnnotationAssertion( "Extra Mammary Paget's Disease"^^xsd:string) AnnotationAssertion( "Paget's disease of skin"^^xsd:string) AnnotationAssertion( "cutaneous Paget disease"^^xsd:string) AnnotationAssertion( "extra mammary Paget disease"^^xsd:string) AnnotationAssertion( "extra-mammary Pagets disease"^^xsd:string) AnnotationAssertion( "extramammary Paget disease"^^xsd:string) AnnotationAssertion( "extramammary Paget's disease"^^xsd:string) AnnotationAssertion( "extramammary Pagets disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3450"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (skin carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/skin"^^xsd:string) "A skin cancer that is located_in tissues of the skin and develops from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009259"^^xsd:string) AnnotationAssertion( "EFO:0009260"^^xsd:string) AnnotationAssertion( "EFO:0010176"^^xsd:string) AnnotationAssertion( "NCI:C4914"^^xsd:string) AnnotationAssertion( "carcinoma of skin"^^xsd:string) AnnotationAssertion( "keratinocyte carcinoma"^^xsd:string) AnnotationAssertion( "non-melanoma skin carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3451"^^xsd:string) AnnotationAssertion(rdfs:label "skin carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain infarction) AnnotationAssertion(Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=D020520"^^xsd:string) "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004277"^^xsd:string) AnnotationAssertion( "EFO:0004715"^^xsd:string) AnnotationAssertion( "MESH:D020520"^^xsd:string) AnnotationAssertion( "Anterior Cerebral Circulation Infarction"^^xsd:string) AnnotationAssertion( "Anterior Circulation Brain Infarction"^^xsd:string) AnnotationAssertion( "Brain Venous Infarction"^^xsd:string) AnnotationAssertion( "Brain Venous Infarctions"^^xsd:string) AnnotationAssertion( "brain infarctions"^^xsd:string) AnnotationAssertion( "posterior circulation brain infarction"^^xsd:string) AnnotationAssertion( "MRI defined brain infarct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3454"^^xsd:string) AnnotationAssertion(rdfs:label "brain infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cervix erosion) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cervical_ectropion"^^xsd:string) "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000862"^^xsd:string) AnnotationAssertion( "MESH:D002579"^^xsd:string) AnnotationAssertion( "Uterine Cervical Erosion"^^xsd:string) AnnotationAssertion( "Uterine Cervix Erosion"^^xsd:string) AnnotationAssertion( "erosion of cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3456"^^xsd:string) AnnotationAssertion(rdfs:label "cervix erosion"^^xsd:string) SubClassOf( ) # Class: (invasive lobular carcinoma) AnnotationAssertion(Annotation( "http://www.breastcancer.org/symptoms/types/ilc"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25849106"^^xsd:string) "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000185"^^xsd:string) AnnotationAssertion( "EFO:0000553"^^xsd:string) AnnotationAssertion( "NCI:C7950"^^xsd:string) AnnotationAssertion( "infiltrating lobular carcinoma"^^xsd:string) AnnotationAssertion( "invasive lobular breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3457"^^xsd:string) AnnotationAssertion(rdfs:label "invasive lobular carcinoma"^^xsd:string) SubClassOf( ) # Class: (breast adenocarcinoma) AnnotationAssertion(Annotation( "http://www.virtualmedicalcentre.com/diseases.asp?did=696"^^xsd:string) "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. (DO)"^^xsd:string) AnnotationAssertion( "Mixed Lobular and Ductal Breast Carcinoma"^^xsd:string) AnnotationAssertion( "EFO:0000281"^^xsd:string) AnnotationAssertion( "EFO:0000304"^^xsd:string) AnnotationAssertion( "EFO:0000592"^^xsd:string) AnnotationAssertion( "EFO:1000382"^^xsd:string) AnnotationAssertion( "EFO:1000402"^^xsd:string) AnnotationAssertion( "NCI:C5214"^^xsd:string) AnnotationAssertion( "RDO:9000715"^^xsd:string) AnnotationAssertion( "Adenocarcinoma of the breast"^^xsd:string) AnnotationAssertion( "Breast adenocarcinoma, somatic"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5214"^^xsd:string) "Mammary adenocarcinoma"^^xsd:string) AnnotationAssertion( "adenocarcinoma of breast"^^xsd:string) AnnotationAssertion( "Normal Breast-Like Subtype of Breast Carcinoma"^^xsd:string) AnnotationAssertion( "basal-like breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3458"^^xsd:string) AnnotationAssertion(rdfs:label "breast adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string) "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000305"^^xsd:string) AnnotationAssertion( "EFO:1002010"^^xsd:string) AnnotationAssertion( "NCI:C124249"^^xsd:string) AnnotationAssertion( "NCI:C4872"^^xsd:string) AnnotationAssertion( "RDO:9001794"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4872"^^xsd:string) "Mammary carcinoma"^^xsd:string) AnnotationAssertion( "breast carcinomas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254838004"^^xsd:string) "carcinoma of breast"^^xsd:string) AnnotationAssertion( "human mammary carcinoma"^^xsd:string) AnnotationAssertion( "human mammary carcinomas"^^xsd:string) AnnotationAssertion( "HER2 POSITIVE BREAST CARCINOMA"^^xsd:string) AnnotationAssertion( "MULTIFOCAL BREAST CARCINOMA"^^xsd:string) AnnotationAssertion( "TP53 Positive Breast Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3459"^^xsd:string) AnnotationAssertion(rdfs:label "breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/breastdiseases.html"^^xsd:string) "A thoracic disease that is located_in the breast. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009483"^^xsd:string) AnnotationAssertion( "ICD10CM:N64.9"^^xsd:string) AnnotationAssertion( "ICD9CM:610-612.99"^^xsd:string) AnnotationAssertion( "MESH:D001941"^^xsd:string) AnnotationAssertion( "NCI:C26709"^^xsd:string) AnnotationAssertion( "breast diseases"^^xsd:string) AnnotationAssertion( "endocrine breast disease"^^xsd:string) AnnotationAssertion( "endocrine breast diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3463"^^xsd:string) AnnotationAssertion(rdfs:label "breast disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (iris cancer) AnnotationAssertion( "EFO:1000996"^^xsd:string) AnnotationAssertion( "NCI:C3142"^^xsd:string) AnnotationAssertion( "NCI:C4554"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4554"^^xsd:string) "malignant neoplasm of the Iris"^^xsd:string) AnnotationAssertion( "malignant tumor of iris"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3142"^^xsd:string) "tumor of the Iris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3478"^^xsd:string) AnnotationAssertion(rdfs:label "iris cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uveal cancer) AnnotationAssertion(Annotation( "https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma"^^xsd:string) "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001230"^^xsd:string) AnnotationAssertion( "NCI:C6105"^^xsd:string) AnnotationAssertion( "malignant neoplasm of uveal tract"^^xsd:string) AnnotationAssertion( "malignant uvea neoplasm"^^xsd:string) AnnotationAssertion( "malignant uveal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3479"^^xsd:string) AnnotationAssertion(rdfs:label "uveal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blepharochalasis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Blepharochalasis"^^xsd:string) "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:110000"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.3"^^xsd:string) AnnotationAssertion( "ICD9CM:374.34"^^xsd:string) AnnotationAssertion( "MESH:C566223"^^xsd:string) AnnotationAssertion( "superior blepharochalasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:348"^^xsd:string) AnnotationAssertion(rdfs:label "blepharochalasis"^^xsd:string) SubClassOf( ) # Class: (uveal disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908"^^xsd:string) "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8192"^^xsd:string) AnnotationAssertion( "MESH:D014603"^^xsd:string) AnnotationAssertion( "NCI:C26908"^^xsd:string) AnnotationAssertion( "uveal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3480"^^xsd:string) AnnotationAssertion(rdfs:label "uveal disease"^^xsd:string) SubClassOf( ) # Class: (septicemic plague) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvbid/plague/facts.htm"^^xsd:string) "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007481"^^xsd:string) AnnotationAssertion( "ICD10CM:A20.7"^^xsd:string) AnnotationAssertion( "ICD9CM:020.2"^^xsd:string) AnnotationAssertion( "septicemic plagues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3481"^^xsd:string) AnnotationAssertion(rdfs:label "septicemic plague"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plague) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29628173"^^xsd:string) "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009425"^^xsd:string) AnnotationAssertion( "ICD10CM:A20"^^xsd:string) AnnotationAssertion( "ICD9CM:020"^^xsd:string) AnnotationAssertion( "MESH:D010930"^^xsd:string) AnnotationAssertion( "NCI:C85015"^^xsd:string) AnnotationAssertion( "Black Plague"^^xsd:string) AnnotationAssertion( "Meningeal Plague"^^xsd:string) AnnotationAssertion( "Meningeal Plagues"^^xsd:string) AnnotationAssertion( "Pulmonic Plague"^^xsd:string) AnnotationAssertion( "Yersinia pestis infections"^^xsd:string) AnnotationAssertion( "Yersinia pestis infectious disease"^^xsd:string) AnnotationAssertion( "black plagues"^^xsd:string) AnnotationAssertion( "pulmonic plagues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:3482"^^xsd:string) AnnotationAssertion(rdfs:label "plague"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (necrobiosis lipoidica) AnnotationAssertion(Annotation( "MESH:D009335"^^xsd:string) "A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes."^^xsd:string) AnnotationAssertion( "EFO:1000738"^^xsd:string) AnnotationAssertion( "GARD:13040"^^xsd:string) AnnotationAssertion( "MESH:D009335"^^xsd:string) AnnotationAssertion( "NCI:C34840"^^xsd:string) AnnotationAssertion( "Necrobiosis Lipoidica Diabeticorum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3486"^^xsd:string) AnnotationAssertion(rdfs:label "necrobiosis lipoidica"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cellulitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cellulitis"^^xsd:string) "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003035"^^xsd:string) AnnotationAssertion( "ICD10CM:L03.90"^^xsd:string) AnnotationAssertion( "MESH:D002481"^^xsd:string) AnnotationAssertion( "NCI:C26715"^^xsd:string) AnnotationAssertion( "NCI:C34454"^^xsd:string) AnnotationAssertion( "phlegmon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3488"^^xsd:string) AnnotationAssertion(rdfs:label "cellulitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (systemic mastocytosis) AnnotationAssertion(Annotation( "MESH:D034721"^^xsd:string) "A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis."^^xsd:string) AnnotationAssertion( "GARD:8616"^^xsd:string) AnnotationAssertion( "MESH:D034721"^^xsd:string) AnnotationAssertion( "MONDO:0016586"^^xsd:string) AnnotationAssertion( "NCI:C9235"^^xsd:string) AnnotationAssertion( "SMCD - systemic mast cell disease"^^xsd:string) AnnotationAssertion( "Systemic Mast-Cell Diseases"^^xsd:string) AnnotationAssertion( "systemic mast cell disease"^^xsd:string) AnnotationAssertion( "systemic mastocytoses"^^xsd:string) AnnotationAssertion( "systemic tissue mast cell disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:349"^^xsd:string) AnnotationAssertion(rdfs:label "systemic mastocytosis"^^xsd:string) SubClassOf( ) # Class: (Noonan syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome"^^xsd:string) "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10955"^^xsd:string) AnnotationAssertion( "ICD10CM:Q87.19"^^xsd:string) AnnotationAssertion( "MESH:D009634"^^xsd:string) AnnotationAssertion( "MIM:PS163950"^^xsd:string) AnnotationAssertion( "MONDO:0018997"^^xsd:string) AnnotationAssertion( "NCI:C34854"^^xsd:string) AnnotationAssertion( "NCI:C75459"^^xsd:string) AnnotationAssertion( "ORDO:648"^^xsd:string) AnnotationAssertion( "Male Turner Syndrome"^^xsd:string) AnnotationAssertion( "Noonan Ehmke Syndrome"^^xsd:string) AnnotationAssertion( "Noonan's syndrome"^^xsd:string) AnnotationAssertion( "Pseudo Ullrich Turner Syndrome"^^xsd:string) AnnotationAssertion( "Turner like syndrome"^^xsd:string) AnnotationAssertion( "Turner phenotype with normal karyotype"^^xsd:string) AnnotationAssertion( "Turner's phenotype, karyotype normal"^^xsd:string) AnnotationAssertion( "Ullrich Noonan syndrome"^^xsd:string) AnnotationAssertion( "familial Turner syndrome"^^xsd:string) AnnotationAssertion( "female pseudo Turner syndrome"^^xsd:string) AnnotationAssertion( "male Turner's syndrome"^^xsd:string) AnnotationAssertion( "pterygium colli syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3490"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Turner syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/turner-syndrome"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/turner-syndrome/"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/turner-syndrome"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Turner-Syndrome"^^xsd:string) "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2540"^^xsd:string) AnnotationAssertion( "GARD:7831"^^xsd:string) AnnotationAssertion( "ICD10CM:Q96"^^xsd:string) AnnotationAssertion( "ICD10CM:Q96.0"^^xsd:string) AnnotationAssertion( "ICD10CM:Q96.9"^^xsd:string) AnnotationAssertion( "MESH:D014424"^^xsd:string) AnnotationAssertion( "NCI:C26900"^^xsd:string) AnnotationAssertion( "NCI:C34434"^^xsd:string) AnnotationAssertion( "NCI:C85210"^^xsd:string) AnnotationAssertion( "Bonnevie Ullrich syndrome"^^xsd:string) AnnotationAssertion( "Gonadal Dysgenesis, 45,X"^^xsd:string) AnnotationAssertion( "Monosomy X"^^xsd:string) AnnotationAssertion( "Status Bonnevie Ullrich"^^xsd:string) AnnotationAssertion( "Turner's Syndrome"^^xsd:string) AnnotationAssertion( "Turners Syndrome"^^xsd:string) AnnotationAssertion( "Ullrich Turner Syndrome"^^xsd:string) AnnotationAssertion( "XO gonadal dysgenesis"^^xsd:string) AnnotationAssertion( "XO syndrome"^^xsd:string) AnnotationAssertion( "gonadal dysgenesis - Turner"^^xsd:string) AnnotationAssertion( "karyotype 45, X"^^xsd:string) AnnotationAssertion( "monosomy X syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3491"^^xsd:string) AnnotationAssertion(rdfs:label "Turner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mixed connective tissue disease) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html"^^xsd:string) "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007374"^^xsd:string) AnnotationAssertion( "GARD:7051"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.1"^^xsd:string) AnnotationAssertion( "MESH:D008947"^^xsd:string) AnnotationAssertion( "NCI:C84892"^^xsd:string) AnnotationAssertion( "MCTD"^^xsd:string) AnnotationAssertion( "Sharp Syndrome"^^xsd:string) AnnotationAssertion( "connective tissue disease overlap syndrome"^^xsd:string) AnnotationAssertion( "mixed collagen vascular disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3492"^^xsd:string) AnnotationAssertion(rdfs:label "mixed connective tissue disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (signet ring cell adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000698"^^xsd:string) AnnotationAssertion( "MESH:D018279"^^xsd:string) AnnotationAssertion( "NCI:C3774"^^xsd:string) AnnotationAssertion( "signet ring carcinoma"^^xsd:string) AnnotationAssertion( "signet ring cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3493"^^xsd:string) AnnotationAssertion(rdfs:label "signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct signet ring cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3494"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct signet ring cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrahepatic bile duct adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7975"^^xsd:string) AnnotationAssertion( "adenocarcinoma of extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "extrahepatic cholangiocarcinoma"^^xsd:string) AnnotationAssertion( "extrahepatic cholangiocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "DOID:3495"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5720"^^xsd:string) AnnotationAssertion( "RDO:9002822"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5720"^^xsd:string) "Signet Ring cell carcinoma of pancreas"^^xsd:string) AnnotationAssertion( "pancreatic signet ring cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3497"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic ductal adenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pancreatic_cancer"^^xsd:string) "A pancreatic adenocarcinoma that derives_from pancreatic duct cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002823"^^xsd:string) AnnotationAssertion( "EFO:0002517"^^xsd:string) AnnotationAssertion( "EFO:0006471"^^xsd:string) AnnotationAssertion( "EFO:1000606"^^xsd:string) AnnotationAssertion( "NCI:C34041"^^xsd:string) AnnotationAssertion( "NCI:C9120"^^xsd:string) AnnotationAssertion( "PDAC"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9120"^^xsd:string) "ductal adenocarcinoma of the pancreas"^^xsd:string) AnnotationAssertion( "pancreatic tubular adenocarcinoma"^^xsd:string) AnnotationAssertion( "Undifferentiated Pancreatic Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3498"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic ductal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5745"^^xsd:string) AnnotationAssertion( "RDO:9004660"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5745"^^xsd:string) "Signet Ring cell carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3499"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mastocytosis) AnnotationAssertion(Annotation( "MESH:D008415"^^xsd:string) "A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA)."^^xsd:string) AnnotationAssertion( "MIM:154800"^^xsd:string) AnnotationAssertion( "EFO:0009001"^^xsd:string) AnnotationAssertion( "GARD:6987"^^xsd:string) AnnotationAssertion( "ICD10CM:Q82.2"^^xsd:string) AnnotationAssertion( "MESH:D008415"^^xsd:string) AnnotationAssertion( "NCI:C84269"^^xsd:string) AnnotationAssertion( "Mast Cell Disease"^^xsd:string) AnnotationAssertion( "Mast-Cell Diseases"^^xsd:string) AnnotationAssertion( "Mastocytoses"^^xsd:string) AnnotationAssertion( "mast cell hyperplasia"^^xsd:string) AnnotationAssertion( "MASTOCYTOSIS URTICARIA PIGMENTOSA"^^xsd:string) AnnotationAssertion( "MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET"^^xsd:string) AnnotationAssertion( "Mastocytosis, Adult Sporadic"^^xsd:string) AnnotationAssertion( "mastocytosis with associated hematologic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:350"^^xsd:string) AnnotationAssertion(rdfs:label "mastocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gallbladder adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A gallbladder carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000262"^^xsd:string) AnnotationAssertion( "NCI:C9166"^^xsd:string) AnnotationAssertion( "RDO:9002505"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3500"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampullary signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6656"^^xsd:string) AnnotationAssertion( "ampullary signet ring cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3501"^^xsd:string) AnnotationAssertion(rdfs:label "ampullary signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008490"^^xsd:string) AnnotationAssertion( "NCI:C6650"^^xsd:string) AnnotationAssertion( "adenocarcinoma of ampulla of vater"^^xsd:string) AnnotationAssertion( "ampullary adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3502"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast signet ring cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/"^^xsd:string) "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5175"^^xsd:string) AnnotationAssertion( "RDO:9004076"^^xsd:string) AnnotationAssertion( "mammary signet ring cell carcinoma"^^xsd:string) AnnotationAssertion( "signet ring cell carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3503"^^xsd:string) AnnotationAssertion(rdfs:label "breast signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5535"^^xsd:string) AnnotationAssertion( "prostate signet ring cell carcinoma"^^xsd:string) AnnotationAssertion( "signet ring cell carcinoma of prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3504"^^xsd:string) AnnotationAssertion(rdfs:label "prostate signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermatofibrosarcoma protuberans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44276"^^xsd:string) "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607907"^^xsd:string) AnnotationAssertion( "GARD:9569"^^xsd:string) AnnotationAssertion( "ICDO:8832/1"^^xsd:string) AnnotationAssertion( "MESH:D018223"^^xsd:string) AnnotationAssertion( "NCI:C4683"^^xsd:string) AnnotationAssertion( "Bednar Tumor"^^xsd:string) AnnotationAssertion( "Bednar's tumor"^^xsd:string) AnnotationAssertion( "Bednars Tumor"^^xsd:string) AnnotationAssertion( "DFSP"^^xsd:string) AnnotationAssertion( "Darier Ferrand Tumor"^^xsd:string) AnnotationAssertion( "Darier Hoffmann Tumor"^^xsd:string) AnnotationAssertion( "Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Dermatofibrosarcoma Protuberans, Giant Cell"^^xsd:string) AnnotationAssertion( "FS-DFSP"^^xsd:string) AnnotationAssertion( "Familial Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Familial Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "Fibrosarcomatous DFSP"^^xsd:string) AnnotationAssertion( "Fibrosarcomatous Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Fibrosarcomatous Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "Giant Cell Fibroblastoma"^^xsd:string) AnnotationAssertion( "Giant Cell Fibroblastomas"^^xsd:string) AnnotationAssertion( "Giant Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Giant Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "Juvenile DFSP"^^xsd:string) AnnotationAssertion( "Metastatic Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Metastatic Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "Myxoid DFSP"^^xsd:string) AnnotationAssertion( "Myxoid Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Myxoid Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "Pigmented Dermatofibrosarcoma Protuberan"^^xsd:string) AnnotationAssertion( "Pigmented Dermatofibrosarcoma Protuberans"^^xsd:string) AnnotationAssertion( "dermatofibrosarcoma"^^xsd:string) AnnotationAssertion( "dermatofibrosarcomas"^^xsd:string) AnnotationAssertion( "pigmented DFSP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3507"^^xsd:string) AnnotationAssertion(rdfs:label "dermatofibrosarcoma protuberans"^^xsd:string) SubClassOf( ) # Class: (stricture or kinking of ureter) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:593.3"^^xsd:string) AnnotationAssertion( "RDO:9003105"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3508"^^xsd:string) AnnotationAssertion(rdfs:label "stricture or kinking of ureter"^^xsd:string) SubClassOf( ) # Class: (neurofibrosarcoma) AnnotationAssertion(Annotation( "MESH:D018319"^^xsd:string) "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)"^^xsd:string) AnnotationAssertion( "GARD:8211"^^xsd:string) AnnotationAssertion( "MESH:D018319"^^xsd:string) AnnotationAssertion( "RDO:0007180"^^xsd:string) AnnotationAssertion( "Neurofibrosarcomas"^^xsd:string) AnnotationAssertion( "Neurogenic Sarcoma"^^xsd:string) AnnotationAssertion( "Neurogenic Sarcomas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:19897006"^^xsd:string) "Neurosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3512"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7809"^^xsd:string) AnnotationAssertion( "RDO:9004184"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3516"^^xsd:string) AnnotationAssertion(rdfs:label "adult fibrosarcoma"^^xsd:string) SubClassOf( ) # Class: (conventional fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9429"^^xsd:string) AnnotationAssertion( "RDO:9004185"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3517"^^xsd:string) AnnotationAssertion(rdfs:label "conventional fibrosarcoma"^^xsd:string) SubClassOf( ) # Class: (childhood fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8810/3"^^xsd:string) AnnotationAssertion( "NCI:C8088"^^xsd:string) AnnotationAssertion( "pediatric fibrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3520"^^xsd:string) AnnotationAssertion(rdfs:label "childhood fibrosarcoma"^^xsd:string) SubClassOf( ) # Class: (lateral medullary syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Lateral_medullary_syndrome"^^xsd:string) "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001011"^^xsd:string) AnnotationAssertion( "ICD10CM:G46.3"^^xsd:string) AnnotationAssertion( "MESH:D014854"^^xsd:string) AnnotationAssertion( "NCI:C84807"^^xsd:string) AnnotationAssertion( "Dorsolateral Medullary Syndrome"^^xsd:string) AnnotationAssertion( "Lateral Bulbar Syndrome"^^xsd:string) AnnotationAssertion( "Posterior Inferior Cerebellar Artery Syndrome"^^xsd:string) AnnotationAssertion( "Vieseaux Wallenberg Syndrome"^^xsd:string) AnnotationAssertion( "Wallenberg syndrome"^^xsd:string) AnnotationAssertion( "Wallenberg's Syndrome"^^xsd:string) AnnotationAssertion( "Wallenbergs Syndrome"^^xsd:string) AnnotationAssertion( "lateral medullary syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3522"^^xsd:string) AnnotationAssertion(rdfs:label "lateral medullary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (brain stem infarction) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brainstem"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome"^^xsd:string) "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000847"^^xsd:string) AnnotationAssertion( "MESH:D020526"^^xsd:string) AnnotationAssertion( "Benedict Syndrome"^^xsd:string) AnnotationAssertion( "Brainstem Infarction"^^xsd:string) AnnotationAssertion( "Brainstem Stroke"^^xsd:string) AnnotationAssertion( "Claude Syndrome"^^xsd:string) AnnotationAssertion( "Foville Syndrome"^^xsd:string) AnnotationAssertion( "Millard Gublar Syndrome"^^xsd:string) AnnotationAssertion( "Top of the Basilar Syndrome"^^xsd:string) AnnotationAssertion( "Weber syndrome"^^xsd:string) AnnotationAssertion( "brain stem infarctions"^^xsd:string) AnnotationAssertion( "brainstem infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3523"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem infarction"^^xsd:string) SubClassOf( ) # Class: (middle cerebral artery infarction) AnnotationAssertion(Annotation( "MESH:D020244"^^xsd:string) "NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."^^xsd:string) AnnotationAssertion( "THROMBOTIC STROKE"^^xsd:string) AnnotationAssertion( "EFO:1001045"^^xsd:string) AnnotationAssertion( "MESH:D020244"^^xsd:string) AnnotationAssertion( "Left Middle Cerebral Artery Infarction"^^xsd:string) AnnotationAssertion( "MCA Infarction"^^xsd:string) AnnotationAssertion( "MCAO"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Circulation Infarction"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Embolic Infarction"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Embolus"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Occlusion"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Stroke"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Syndrome"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Thrombosis"^^xsd:string) AnnotationAssertion( "Middle Cerebral Artery Thrombotic Infarction"^^xsd:string) AnnotationAssertion( "cerebral infarction, middle cerebral artery"^^xsd:string) AnnotationAssertion( "right middle cerebral artery infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3525"^^xsd:string) AnnotationAssertion(rdfs:label "middle cerebral artery infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral infarction) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_infarction"^^xsd:string) "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601367"^^xsd:string) AnnotationAssertion( "ICD10CM:I63"^^xsd:string) AnnotationAssertion( "MESH:D002544"^^xsd:string) AnnotationAssertion( "NCI:C3390"^^xsd:string) AnnotationAssertion( "NCI:C50486"^^xsd:string) AnnotationAssertion( "AIS"^^xsd:string) AnnotationAssertion( "CEREBROVASCULAR ACCIDENT"^^xsd:string) AnnotationAssertion( "CVA - cerebral infarction"^^xsd:string) AnnotationAssertion( "Cerebral Infarction, Left Hemisphere"^^xsd:string) AnnotationAssertion( "Cerebral Infarction, Right Hemisphere"^^xsd:string) AnnotationAssertion( "Cerebral infarct"^^xsd:string) AnnotationAssertion( "Posterior Choroidal Artery Infarction"^^xsd:string) AnnotationAssertion( "anterior choroidal artery infarction"^^xsd:string) AnnotationAssertion( "arterial ischemic stroke"^^xsd:string) AnnotationAssertion( "cerebral infarctions"^^xsd:string) AnnotationAssertion( "cerebral ischemic stroke"^^xsd:string) AnnotationAssertion( "ischemic stroke"^^xsd:string) AnnotationAssertion( "subcortical infarction"^^xsd:string) AnnotationAssertion( "subcortical infarctions"^^xsd:string) AnnotationAssertion( "AS"^^xsd:string) AnnotationAssertion( "TS"^^xsd:string) AnnotationAssertion( "acute cerebral infarction"^^xsd:string) AnnotationAssertion( "arteriopathy stroke"^^xsd:string) AnnotationAssertion( "thromboembolic stroke"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CEREBRAL INFARCTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Ischemic Stroke, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:3526"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral infarction"^^xsd:string) SubClassOf( ) # Class: (cerebral arterial disease) AnnotationAssertion(Annotation( "MESH:D002539"^^xsd:string) "Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY."^^xsd:string) AnnotationAssertion( "RDO:0005162"^^xsd:string) AnnotationAssertion( "EFO:1000859"^^xsd:string) AnnotationAssertion( "MESH:D002539"^^xsd:string) AnnotationAssertion( "Cerebral Artery Disease"^^xsd:string) AnnotationAssertion( "Cerebral Artery Diseases"^^xsd:string) AnnotationAssertion( "cerebral arterial diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3527"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral arterial disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior cerebral artery infarction) AnnotationAssertion(Annotation( "MESH:D020243"^^xsd:string) "NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body."^^xsd:string) AnnotationAssertion( "EFO:1000807"^^xsd:string) AnnotationAssertion( "MESH:D020243"^^xsd:string) AnnotationAssertion( "MONDO:0006647"^^xsd:string) AnnotationAssertion( "ACA infarction"^^xsd:string) AnnotationAssertion( "ACA infarctions"^^xsd:string) AnnotationAssertion( "Anterior Cerebral Artery Stroke"^^xsd:string) AnnotationAssertion( "Anterior Cerebral Artery Syndrome"^^xsd:string) AnnotationAssertion( "Heubner Artery Infarction"^^xsd:string) AnnotationAssertion( "Heubner's Artery Infarction"^^xsd:string) AnnotationAssertion( "Heubners Artery Infarction"^^xsd:string) AnnotationAssertion( "Infarction, Anterior Cerebral Artery Circulation"^^xsd:string) AnnotationAssertion( "Infarction, Anterior Cerebral Artery Distribution"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3528"^^xsd:string) AnnotationAssertion(rdfs:label "anterior cerebral artery infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myopathy 1A) AnnotationAssertion(Annotation( "https://medlineplus.gov/genetics/condition/central-core-disease/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23553484/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34627702/"^^xsd:string) "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (DO)"^^xsd:string) AnnotationAssertion( "MIM:117000"^^xsd:string) AnnotationAssertion( "EFO:1000855"^^xsd:string) AnnotationAssertion( "GARD:6014"^^xsd:string) AnnotationAssertion( "ICD10CM:G71.29"^^xsd:string) AnnotationAssertion( "MESH:D020512"^^xsd:string) AnnotationAssertion( "NCI:C83010"^^xsd:string) AnnotationAssertion( "ORDO:597"^^xsd:string) AnnotationAssertion( "CCD"^^xsd:string) AnnotationAssertion( "CCO"^^xsd:string) AnnotationAssertion( "CMYP1A"^^xsd:string) AnnotationAssertion( "Shy Magee syndrome"^^xsd:string) AnnotationAssertion( "central core disease"^^xsd:string) AnnotationAssertion( "central core disease of muscle"^^xsd:string) AnnotationAssertion( "central core diseases"^^xsd:string) AnnotationAssertion( "central core myopathies"^^xsd:string) AnnotationAssertion( "central core myopathy"^^xsd:string) AnnotationAssertion( "congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia"^^xsd:string) AnnotationAssertion( "congenital myopathy with cores"^^xsd:string) AnnotationAssertion( "CNMDU1"^^xsd:string) AnnotationAssertion( "Central Core Disease, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "congenital neuromuscular disease with uniform type 1 fiber"^^xsd:string) AnnotationAssertion( "moderate minicore myopathy with hand involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3529"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myopathy 1A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic wasting disease) AnnotationAssertion(Annotation( "MESH:D034081"^^xsd:string) "A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS)."^^xsd:string) AnnotationAssertion( "MESH:D034081"^^xsd:string) AnnotationAssertion( "RDO:0007484"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3530"^^xsd:string) AnnotationAssertion(rdfs:label "chronic wasting disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lafora disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19267391"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19469843"^^xsd:string) "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000690"^^xsd:string) AnnotationAssertion( "GARD:8214"^^xsd:string) AnnotationAssertion( "MESH:D020192"^^xsd:string) AnnotationAssertion( "MIM:PS254780"^^xsd:string) AnnotationAssertion( "NCI:C84804"^^xsd:string) AnnotationAssertion( "EPM2"^^xsd:string) AnnotationAssertion( "LBD"^^xsd:string) AnnotationAssertion( "Lafora Body Disorder"^^xsd:string) AnnotationAssertion( "Lafora Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Lafora Progressive Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Lafora Progressive Myoclonus Epilepsy"^^xsd:string) AnnotationAssertion( "Lafora body disease"^^xsd:string) AnnotationAssertion( "Lafora type progressive myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "Lafora's disease"^^xsd:string) AnnotationAssertion( "MELF"^^xsd:string) AnnotationAssertion( "epilepsy progressive myoclonic 2"^^xsd:string) AnnotationAssertion( "late-onset Lafora body disease"^^xsd:string) AnnotationAssertion( "myoclonic epilepsy of Lafora"^^xsd:string) AnnotationAssertion( "myoclonus epilepsy of Lafora"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy type 2"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy, Lafora type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3534"^^xsd:string) AnnotationAssertion(rdfs:label "Lafora disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Unverricht-Lundborg syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19469843"^^xsd:string) "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254800"^^xsd:string) AnnotationAssertion( "GARD:3876"^^xsd:string) AnnotationAssertion( "MESH:D020194"^^xsd:string) AnnotationAssertion( "NCI:C179710"^^xsd:string) AnnotationAssertion( "Baltic myoclonic epilepsies"^^xsd:string) AnnotationAssertion( "Baltic myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "Baltic myoclonus"^^xsd:string) AnnotationAssertion( "Baltic myoclonus epilepsies"^^xsd:string) AnnotationAssertion( "Baltic myoclonus epilepsy"^^xsd:string) AnnotationAssertion( "EPM1"^^xsd:string) AnnotationAssertion( "Epilepsy, Progressive Myoclonic 1"^^xsd:string) AnnotationAssertion( "Epilepsy, Progressive Myoclonic Type 1"^^xsd:string) AnnotationAssertion( "Mediterranean Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy of Unverricht and Lundborg"^^xsd:string) AnnotationAssertion( "ULD"^^xsd:string) AnnotationAssertion( "Unverricht Lundborg disease"^^xsd:string) AnnotationAssertion( "Unverricht disease"^^xsd:string) AnnotationAssertion( "Unverricht diseases"^^xsd:string) AnnotationAssertion( "Unverricht's disease"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy 1"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsy of Unverricht and Lundborg"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3535"^^xsd:string) AnnotationAssertion(rdfs:label "Unverricht-Lundborg syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroid plexus cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Choroid_plexus"^^xsd:string) "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007206"^^xsd:string) AnnotationAssertion( "NCI:C3473"^^xsd:string) AnnotationAssertion( "tumor of choroid plexus"^^xsd:string) AnnotationAssertion( "tumor of the choroid plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3540"^^xsd:string) AnnotationAssertion(rdfs:label "choroid plexus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral ventricle cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ventricular_system"^^xsd:string) "A cerebrum cancer that is located_in the cerebral ventricles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007201"^^xsd:string) AnnotationAssertion( "GARD:6025"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.5"^^xsd:string) AnnotationAssertion( "ICD9CM:191.5"^^xsd:string) AnnotationAssertion( "NCI:C2937"^^xsd:string) AnnotationAssertion( "RDO:9004641"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C2937"^^xsd:string) "Intraventricular tumor of brain"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2006-2736"^^xsd:string) "cerebral ventricle neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3541"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral ventricle cancer"^^xsd:string) SubClassOf( ) # Class: (adult choroid plexus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "adult choroid plexus tumor"^^xsd:string) AnnotationAssertion( "neoplasm of the adult choroid plexus"^^xsd:string) AnnotationAssertion( "NCI:C8568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3542"^^xsd:string) AnnotationAssertion(rdfs:label "adult choroid plexus cancer"^^xsd:string) SubClassOf( ) # Class: (atypical choroid plexus papilloma) AnnotationAssertion( "A choroid plexus papilloma characterized by increased mitotic activity. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9390/1"^^xsd:string) AnnotationAssertion( "NCI:C53686"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3544"^^xsd:string) AnnotationAssertion(rdfs:label "atypical choroid plexus papilloma"^^xsd:string) SubClassOf( ) # Class: (childhood choroid plexus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9390/3"^^xsd:string) AnnotationAssertion( "NCI:C42080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "childhood choroid plexus neoplasm"^^xsd:string) AnnotationAssertion( "DOID:3545"^^xsd:string) AnnotationAssertion(rdfs:label "childhood choroid plexus cancer"^^xsd:string) SubClassOf( ) # Class: (mast-cell sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24745684"^^xsd:string) "A sarcoma that has_material_basis_in mast cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000364"^^xsd:string) AnnotationAssertion( "ICD10CM:C96.22"^^xsd:string) AnnotationAssertion( "ICD9CM:202.6"^^xsd:string) AnnotationAssertion( "MESH:D012515"^^xsd:string) AnnotationAssertion( "NCI:C9348"^^xsd:string) AnnotationAssertion( "Malignant Mastocytoma"^^xsd:string) AnnotationAssertion( "Malignant Mastocytomas"^^xsd:string) AnnotationAssertion( "Mast-Cell Sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:355"^^xsd:string) AnnotationAssertion(rdfs:label "mast-cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (superior mesenteric artery syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK482209/"^^xsd:string) "A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001201"^^xsd:string) AnnotationAssertion( "GARD:7712"^^xsd:string) AnnotationAssertion( "MESH:D013478"^^xsd:string) AnnotationAssertion( "NCI:C85175"^^xsd:string) AnnotationAssertion( "ORDO:622099"^^xsd:string) AnnotationAssertion( "Cast Syndrome"^^xsd:string) AnnotationAssertion( "Mesenteric Duodenal Compression Syndrome"^^xsd:string) AnnotationAssertion( "Wilkie Syndrome"^^xsd:string) AnnotationAssertion( "Wilkie's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3557"^^xsd:string) AnnotationAssertion(rdfs:label "superior mesenteric artery syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (duodenal obstruction) AnnotationAssertion(Annotation( "MESH:D004380"^^xsd:string) "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents."^^xsd:string) AnnotationAssertion( "EFO:1000908"^^xsd:string) AnnotationAssertion( "ICD10CM:K31.5"^^xsd:string) AnnotationAssertion( "MESH:D004380"^^xsd:string) AnnotationAssertion( "NCI:C79548"^^xsd:string) AnnotationAssertion( "RDO:0000993"^^xsd:string) AnnotationAssertion( "Duodenal Obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3558"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pseudomyxoma peritonei) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44256"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14567019"^^xsd:string) "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007456"^^xsd:string) AnnotationAssertion( "GARD:7488"^^xsd:string) AnnotationAssertion( "ICDO:8480/6"^^xsd:string) AnnotationAssertion( "MESH:D011553"^^xsd:string) AnnotationAssertion( "NCI:C3345"^^xsd:string) AnnotationAssertion( "gelatinous ascites"^^xsd:string) AnnotationAssertion( "mucinous ascites"^^xsd:string) AnnotationAssertion( "pseudomyxoma peritonei syndrome"^^xsd:string) AnnotationAssertion( "pseudomyxoma peritonei syndromes"^^xsd:string) AnnotationAssertion( "syndrome of pseudomyxoma peritonei"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3559"^^xsd:string) AnnotationAssertion(rdfs:label "pseudomyxoma peritonei"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (meningioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Meningioma"^^xsd:string) "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003098"^^xsd:string) AnnotationAssertion( "EFO:1000375"^^xsd:string) AnnotationAssertion( "GARD:7015"^^xsd:string) AnnotationAssertion( "ICD10CM:D32.9"^^xsd:string) AnnotationAssertion( "ICDO:9530/0"^^xsd:string) AnnotationAssertion( "MESH:D008579"^^xsd:string) AnnotationAssertion( "MONDO:0016642"^^xsd:string) AnnotationAssertion( "NCI:C3230"^^xsd:string) AnnotationAssertion( "NCI:C6971"^^xsd:string) AnnotationAssertion( "ORDO:2495"^^xsd:string) AnnotationAssertion( "meningiomas"^^xsd:string) AnnotationAssertion( "meningiomatoses"^^xsd:string) AnnotationAssertion( "meningiomatosis"^^xsd:string) AnnotationAssertion( "meningothelial cell tumor"^^xsd:string) AnnotationAssertion( "multiple meningioma"^^xsd:string) AnnotationAssertion( "multiple meningiomas"^^xsd:string) AnnotationAssertion( "neoplasm of the meninges"^^xsd:string) AnnotationAssertion( "primary meningeal tumor"^^xsd:string) AnnotationAssertion( "Metaplastic Meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3565"^^xsd:string) AnnotationAssertion(rdfs:label "meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Liver"^^xsd:string) "A hepatobiliary system cancer that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C22.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C22.9"^^xsd:string) AnnotationAssertion( "ICD9CM:155.0"^^xsd:string) AnnotationAssertion( "ICD9CM:155.2"^^xsd:string) AnnotationAssertion( "NCI:C34803"^^xsd:string) AnnotationAssertion( "NCI:C7692"^^xsd:string) AnnotationAssertion( "ca liver - primary"^^xsd:string) AnnotationAssertion( "cancer of liver"^^xsd:string) AnnotationAssertion( "hepatic cancer"^^xsd:string) AnnotationAssertion( "malignant hepato-biliary neoplasm"^^xsd:string) AnnotationAssertion( "malignant neoplasm of liver"^^xsd:string) AnnotationAssertion( "malignant neoplasm of liver, not specified as primary or secondary"^^xsd:string) AnnotationAssertion( "malignant tumor of liver"^^xsd:string) AnnotationAssertion( "non-resectable primary hepatic malignant neoplasm"^^xsd:string) AnnotationAssertion( "primary liver cancer"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of liver"^^xsd:string) AnnotationAssertion( "resectable malignant neoplasm of liver"^^xsd:string) AnnotationAssertion( "resectable malignant neoplasm of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3571"^^xsd:string) AnnotationAssertion(rdfs:label "liver cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intracranial sinus thrombosis) AnnotationAssertion(Annotation( "MESH:D012851"^^xsd:string) "Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects."^^xsd:string) AnnotationAssertion( "MESH:D012851"^^xsd:string) AnnotationAssertion( "RDO:0006580"^^xsd:string) AnnotationAssertion( "CSVT"^^xsd:string) AnnotationAssertion( "Cranial Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Cranial Sinus Thrombosis"^^xsd:string) AnnotationAssertion( "Intracranial Sinus Thrombophlebitides"^^xsd:string) AnnotationAssertion( "Intracranial Sinus Thrombophlebitis"^^xsd:string) AnnotationAssertion( "Intracranial Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Petrous Sinus Thrombophlebitides"^^xsd:string) AnnotationAssertion( "Petrous Sinus Thrombophlebitis"^^xsd:string) AnnotationAssertion( "Petrous Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Petrous Sinus Thrombosis"^^xsd:string) AnnotationAssertion( "Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Sinus Thrombosis"^^xsd:string) AnnotationAssertion( "Venous Sinus Thrombosis, Cranial"^^xsd:string) AnnotationAssertion( "cerebral sinovenous thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3572"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial sinus thrombosis"^^xsd:string) SubClassOf( ) # Class: (lateral sinus thrombosis) AnnotationAssertion(Annotation( "MESH:D020227"^^xsd:string) "Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure."^^xsd:string) AnnotationAssertion( "RDO:0007363"^^xsd:string) AnnotationAssertion( "MESH:D020227"^^xsd:string) AnnotationAssertion( "Lateral Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Septic Phlebitis, Lateral Sinus"^^xsd:string) AnnotationAssertion( "Transverse Sinus Thromboses"^^xsd:string) AnnotationAssertion( "lateral sinus thrombophlebitis"^^xsd:string) AnnotationAssertion( "thrombosis of lateral venous sinus"^^xsd:string) AnnotationAssertion( "transverse sinus thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3574"^^xsd:string) AnnotationAssertion(rdfs:label "lateral sinus thrombosis"^^xsd:string) SubClassOf( ) # Class: (cavernous sinus thrombosis) AnnotationAssertion(Annotation( "MESH:D020226"^^xsd:string) "Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)"^^xsd:string) AnnotationAssertion( "MESH:D020226"^^xsd:string) AnnotationAssertion( "RDO:0007362"^^xsd:string) AnnotationAssertion( "Cavernous Sinus Thrombophlebitides"^^xsd:string) AnnotationAssertion( "Cavernous Sinus Thrombophlebitis"^^xsd:string) AnnotationAssertion( "Cavernous Sinus Thromboses"^^xsd:string) AnnotationAssertion( "Caverous Sinus Septic Phlebitis"^^xsd:string) AnnotationAssertion( "Septic Phlebitis, Cavernous Sinus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:89980009"^^xsd:string) "Thrombosis of cavernous venous sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3575"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous sinus thrombosis"^^xsd:string) SubClassOf( ) # Class: (sagittal sinus thrombosis) AnnotationAssertion(Annotation( "MESH:D020225"^^xsd:string) "Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA."^^xsd:string) AnnotationAssertion( "MESH:D020225"^^xsd:string) AnnotationAssertion( "RDO:0007361"^^xsd:string) AnnotationAssertion( "Sagittal Sinus Septic Phlebitis"^^xsd:string) AnnotationAssertion( "Sagittal Sinus Thrombophlebitis"^^xsd:string) AnnotationAssertion( "Sagittal Sinus Thromboses"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:192760003"^^xsd:string) "Thrombosis of superior longitudinal sinus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:70607008"^^xsd:string) "Thrombosis of superior sagittal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3576"^^xsd:string) AnnotationAssertion(rdfs:label "sagittal sinus thrombosis"^^xsd:string) SubClassOf( ) # Class: (Sertoli cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sertoli_cell_tumour"^^xsd:string) "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050617"^^xsd:string) AnnotationAssertion( "EFO:1000568"^^xsd:string) AnnotationAssertion( "EFO:1000571"^^xsd:string) AnnotationAssertion( "EFO:1000572"^^xsd:string) AnnotationAssertion( "ICDO:8640/1"^^xsd:string) AnnotationAssertion( "MESH:D012707"^^xsd:string) AnnotationAssertion( "NCI:C39976"^^xsd:string) AnnotationAssertion( "tubular androblastoma"^^xsd:string) AnnotationAssertion( "Testicular Large Cell Calcifying Sertoli Cell Tumor"^^xsd:string) AnnotationAssertion( "Testicular Sclerosing Sertoli Cell Tumor"^^xsd:string) AnnotationAssertion( "Testicular Sertoli Cell Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3577"^^xsd:string) AnnotationAssertion(rdfs:label "Sertoli cell tumor"^^xsd:string) SubClassOf( ) # Class: (ovarian gonadoblastoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21879333"^^xsd:string) "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000420"^^xsd:string) AnnotationAssertion( "NCI:C39985"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3578"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian gonadoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular gonadoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39911"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3579"^^xsd:string) AnnotationAssertion(rdfs:label "testicular gonadoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic ductal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pancreatic_cancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pancreatic_duct"^^xsd:string) "A pancreatic carcinoma located_in the pancreatic duct. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C25.3"^^xsd:string) AnnotationAssertion( "ICD9CM:157.3"^^xsd:string) AnnotationAssertion( "MESH:D021441"^^xsd:string) AnnotationAssertion( "Duct Cell Carcinoma of the Pancreas"^^xsd:string) AnnotationAssertion( "Pancreas Duct-Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Pancreas Duct-Cell Carcinomas"^^xsd:string) AnnotationAssertion( "Pancreatic Ductal Carcinomas"^^xsd:string) AnnotationAssertion( "ductal carcinoma of the pancreas"^^xsd:string) AnnotationAssertion( "malignant neoplasm of duct of Wirsung"^^xsd:string) AnnotationAssertion( "pancreatic duct cancer"^^xsd:string) AnnotationAssertion( "pancreatic duct cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3587"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic ductal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gestational trophoblastic neoplasm) AnnotationAssertion( "A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:O01"^^xsd:string) AnnotationAssertion( "ICD9CM:630"^^xsd:string) AnnotationAssertion( "MESH:D031901"^^xsd:string) AnnotationAssertion( "MIM:PS231090"^^xsd:string) AnnotationAssertion( "NCI:C3110"^^xsd:string) AnnotationAssertion( "NCI:C4699"^^xsd:string) AnnotationAssertion( "NCI:C7887"^^xsd:string) AnnotationAssertion( "gestational trophoblastic disease"^^xsd:string) AnnotationAssertion( "gestational trophoblastic diseases"^^xsd:string) AnnotationAssertion( "gestational trophoblastic neoplasia"^^xsd:string) AnnotationAssertion( "gestational trophoblastic neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3590"^^xsd:string) AnnotationAssertion(rdfs:label "gestational trophoblastic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelioid trophoblastic tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6900"^^xsd:string) AnnotationAssertion( "epithelioid trophoblastic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3593"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid trophoblastic tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (choriocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Choriocarcinoma"^^xsd:string) "A placenta cancer that has_material_basis_in trophoblastic cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002893"^^xsd:string) AnnotationAssertion( "EFO:1000269"^^xsd:string) AnnotationAssertion( "GARD:6059"^^xsd:string) AnnotationAssertion( "ICD10CM:C58"^^xsd:string) AnnotationAssertion( "ICDO:9100/3"^^xsd:string) AnnotationAssertion( "MESH:D002822"^^xsd:string) AnnotationAssertion( "NCI:C2948"^^xsd:string) AnnotationAssertion( "NCI:C60377"^^xsd:string) AnnotationAssertion( "Choriocarcinomas"^^xsd:string) AnnotationAssertion( "chorioepithelioma"^^xsd:string) AnnotationAssertion( "Gastric Choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3594"^^xsd:string) AnnotationAssertion(rdfs:label "choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (placental site trophoblastic tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14614893"^^xsd:string) "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001111"^^xsd:string) AnnotationAssertion( "ICDO:9104/1"^^xsd:string) AnnotationAssertion( "MESH:D018245"^^xsd:string) AnnotationAssertion( "NCI:C3757"^^xsd:string) AnnotationAssertion( "placental site trophoblastic tumour"^^xsd:string) AnnotationAssertion( "placental trophoblastic tumor"^^xsd:string) AnnotationAssertion( "placental trophoblastic tumors"^^xsd:string) AnnotationAssertion( "placental-site gestational trophoblastic neoplasm"^^xsd:string) AnnotationAssertion( "placental-site trophoblastic tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3596"^^xsd:string) AnnotationAssertion(rdfs:label "placental site trophoblastic tumor"^^xsd:string) SubClassOf( ) # Class: (toxic encephalopathy) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Toxic_encephalopathy"^^xsd:string) "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001402"^^xsd:string) AnnotationAssertion( "EFO:0005595"^^xsd:string) AnnotationAssertion( "MESH:D020258"^^xsd:string) AnnotationAssertion( "NCI:C27961"^^xsd:string) AnnotationAssertion( "Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "Neurotoxin Disease"^^xsd:string) AnnotationAssertion( "Neurotoxin Diseases"^^xsd:string) AnnotationAssertion( "Neurotoxin Disorder"^^xsd:string) AnnotationAssertion( "Neurotoxin Disorders"^^xsd:string) AnnotationAssertion( "nervous system poisoning"^^xsd:string) AnnotationAssertion( "neurotoxic disorder"^^xsd:string) AnnotationAssertion( "neurotoxic disorders"^^xsd:string) AnnotationAssertion( "neurotoxicity syndromes"^^xsd:string) AnnotationAssertion( "toxic encephalitides"^^xsd:string) AnnotationAssertion( "toxic encephalitis"^^xsd:string) AnnotationAssertion( "toxic encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3602"^^xsd:string) AnnotationAssertion(rdfs:label "toxic encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mucinous cystadenocarcinoma) AnnotationAssertion(Annotation( "https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm"^^xsd:string) "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007378"^^xsd:string) AnnotationAssertion( "ICDO:8470/3"^^xsd:string) AnnotationAssertion( "MESH:D018282"^^xsd:string) AnnotationAssertion( "NCI:C3776"^^xsd:string) AnnotationAssertion( "mucinous cystadenocarcinomas"^^xsd:string) AnnotationAssertion( "pseudomucinous cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3603"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (ovarian mucinous cystadenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor"^^xsd:string) "An ovarian cystadenocarcinoma that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001963"^^xsd:string) AnnotationAssertion( "NCI:C4026"^^xsd:string) AnnotationAssertion( "mucinous cystadenocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3604"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ovarian cystadenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2196390/"^^xsd:string) "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001962"^^xsd:string) AnnotationAssertion( "NCI:C5228"^^xsd:string) AnnotationAssertion( "cystadenocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "cystadenocarcinoma of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3605"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24487473"^^xsd:string) "An ovary adenocarcinoma that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006462"^^xsd:string) AnnotationAssertion( "NCI:C5243"^^xsd:string) AnnotationAssertion( "ORDO:398961"^^xsd:string) AnnotationAssertion( "mucinous adenocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "mucinous carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3606"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (appendix mucinous cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5511"^^xsd:string) AnnotationAssertion( "colloidal cystadenocarcinoma of the appendix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3607"^^xsd:string) AnnotationAssertion(rdfs:label "appendix mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (appendix adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An appendix carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000088"^^xsd:string) AnnotationAssertion( "NCI:C7718"^^xsd:string) AnnotationAssertion( "adenocarcinoma of appendix"^^xsd:string) AnnotationAssertion( "appendiceal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3608"^^xsd:string) AnnotationAssertion(rdfs:label "appendix adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast mucinous cystadenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/"^^xsd:string) "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40354"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3609"^^xsd:string) AnnotationAssertion(rdfs:label "breast mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervix endometriosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21890095"^^xsd:string) "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27623"^^xsd:string) AnnotationAssertion( "cervical endometriosis"^^xsd:string) AnnotationAssertion( "endometriosis of cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:361"^^xsd:string) AnnotationAssertion(rdfs:label "cervix endometriosis"^^xsd:string) SubClassOf( ) # Class: (breast mucinous carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/mucincabr/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24305754"^^xsd:string) "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9131"^^xsd:string) AnnotationAssertion( "invasive mucinous breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "mucinous carcinoma of breast"^^xsd:string) AnnotationAssertion( "DOID:3610"^^xsd:string) AnnotationAssertion(rdfs:label "breast mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (acute retinal necrosis syndrome) AnnotationAssertion(Annotation( "MESH:D015882"^^xsd:string) "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome."^^xsd:string) AnnotationAssertion( "EFO:1000795"^^xsd:string) AnnotationAssertion( "MESH:D015882"^^xsd:string) AnnotationAssertion( "acute retinal necroses"^^xsd:string) AnnotationAssertion( "acute retinal necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3611"^^xsd:string) AnnotationAssertion(rdfs:label "acute retinal necrosis syndrome"^^xsd:string) SubClassOf( ) # Class: (retinitis) AnnotationAssertion(Annotation( "MESH:D012173"^^xsd:string) "Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis)."^^xsd:string) AnnotationAssertion( "MESH:D012173"^^xsd:string) AnnotationAssertion( "NCI:C115993"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3612"^^xsd:string) AnnotationAssertion(rdfs:label "retinitis"^^xsd:string) SubClassOf( ) # Class: (Canavan disease) AnnotationAssertion(Annotation( "MESH:D017825"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2512436/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3354621/"^^xsd:string) "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271900"^^xsd:string) AnnotationAssertion( "GARD:5984"^^xsd:string) AnnotationAssertion( "MESH:D017825"^^xsd:string) AnnotationAssertion( "NCI:C84611"^^xsd:string) AnnotationAssertion( "ACY2 deficiency"^^xsd:string) AnnotationAssertion( "ASP Deficiency"^^xsd:string) AnnotationAssertion( "ASPA Deficiency"^^xsd:string) AnnotationAssertion( "Aminoacylase 2 Deficiency"^^xsd:string) AnnotationAssertion( "Aspartoacylase Deficiency"^^xsd:string) AnnotationAssertion( "Aspartoacylase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Canavan Disease, Familial Form"^^xsd:string) AnnotationAssertion( "Canavan Disease, Mild"^^xsd:string) AnnotationAssertion( "Canavan Disease, Sporadic Form"^^xsd:string) AnnotationAssertion( "Canavan van Bogaert Bertrand Disease"^^xsd:string) AnnotationAssertion( "Infantile Canavan Disease"^^xsd:string) AnnotationAssertion( "Juvenile Canavan Disease"^^xsd:string) AnnotationAssertion( "Neonatal Canavan Disease"^^xsd:string) AnnotationAssertion( "Spongiform Leukodystrophy"^^xsd:string) AnnotationAssertion( "Spongy Degeneration Of Central Nervous System"^^xsd:string) AnnotationAssertion( "Spongy Degeneration of Infancy"^^xsd:string) AnnotationAssertion( "Spongy Degeneration of White Matter In Infancy"^^xsd:string) AnnotationAssertion( "Spongy Degeneration of the Brain"^^xsd:string) AnnotationAssertion( "Spongy Degeneration of the Central Nervous System"^^xsd:string) AnnotationAssertion( "Spongy Disease of Central Nervous System"^^xsd:string) AnnotationAssertion( "Spongy Disease of White Matter"^^xsd:string) AnnotationAssertion( "Type I Canavan Disease"^^xsd:string) AnnotationAssertion( "Type II Canavan Disease"^^xsd:string) AnnotationAssertion( "Type III Canavan Disease"^^xsd:string) AnnotationAssertion( "Van Bogaert Bertrand Syndrome"^^xsd:string) AnnotationAssertion( "Von Bogaert Bertrand disease"^^xsd:string) AnnotationAssertion( "familial form of Canavan disease"^^xsd:string) AnnotationAssertion( "sporadic form of Canavan disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3613"^^xsd:string) AnnotationAssertion(rdfs:label "Canavan disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kallmann syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26194704"^^xsd:string) "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). (DO)"^^xsd:string) AnnotationAssertion( "GARD:10771"^^xsd:string) AnnotationAssertion( "MESH:D017436"^^xsd:string) AnnotationAssertion( "NCI:C75479"^^xsd:string) AnnotationAssertion( "ORDO:478"^^xsd:string) AnnotationAssertion( "De Morsier-Kallman's syndrome"^^xsd:string) AnnotationAssertion( "HHA"^^xsd:string) AnnotationAssertion( "Hypogonadotropic Hypogonadism and Anosmia"^^xsd:string) AnnotationAssertion( "KMS"^^xsd:string) AnnotationAssertion( "Kallman syndrome"^^xsd:string) AnnotationAssertion( "Kallman's syndrome"^^xsd:string) AnnotationAssertion( "Kallmann's syndrome"^^xsd:string) AnnotationAssertion( "Kallmanns syndrome"^^xsd:string) AnnotationAssertion( "anosmic hypogonadism"^^xsd:string) AnnotationAssertion( "anosmic hypogonadisms"^^xsd:string) AnnotationAssertion( "anosmic idiopathic hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "dysplasia olfactogenitalis of De Morsier"^^xsd:string) AnnotationAssertion( "familial hypogonadism with anosmia"^^xsd:string) AnnotationAssertion( "hypogonadism with anosmia"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism, anosmia, and midline cranial anomalies (cleft lip, cleft palate and imperfect fusion)"^^xsd:string) AnnotationAssertion( "hypogonadotropic hypogonadism-anosmia syndrome"^^xsd:string) AnnotationAssertion( "autosomal dominant form of Kallmann syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive form of Kallmann syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3614"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infiltrating angiolipoma) AnnotationAssertion(Annotation( "https://www.spandidos-publications.com/10.3892/ol.2014.2737"^^xsd:string) "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7449"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3615"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating angiolipoma"^^xsd:string) SubClassOf( ) # Class: (angiolipoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Angiolipoma"^^xsd:string) "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000085"^^xsd:string) AnnotationAssertion( "ICDO:8861/0"^^xsd:string) AnnotationAssertion( "MESH:D018206"^^xsd:string) AnnotationAssertion( "NCI:C3733"^^xsd:string) AnnotationAssertion( "angiolipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3616"^^xsd:string) AnnotationAssertion(rdfs:label "angiolipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidural spinal canal angiolipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5424"^^xsd:string) AnnotationAssertion( "angiolipoma of extradural spinal canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3617"^^xsd:string) AnnotationAssertion(rdfs:label "epidural spinal canal angiolipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidural spinal canal neoplasm) AnnotationAssertion(Annotation( "MESH:D015174"^^xsd:string) "Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord."^^xsd:string) AnnotationAssertion( "EFO:1000923"^^xsd:string) AnnotationAssertion( "MESH:D015174"^^xsd:string) AnnotationAssertion( "NCI:C3019"^^xsd:string) AnnotationAssertion( "Epidural Tumor"^^xsd:string) AnnotationAssertion( "Epidural Tumors"^^xsd:string) AnnotationAssertion( "Malignant Epidural Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Epidural Neoplasms"^^xsd:string) AnnotationAssertion( "epidural neoplasm"^^xsd:string) AnnotationAssertion( "epidural neoplasms"^^xsd:string) AnnotationAssertion( "extradural tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3618"^^xsd:string) AnnotationAssertion(rdfs:label "epidural spinal canal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Central_nervous_system"^^xsd:string) "A nervous system cancer that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000326"^^xsd:string) AnnotationAssertion( "ICD10CM:C72.9"^^xsd:string) AnnotationAssertion( "NCI:C4627"^^xsd:string) AnnotationAssertion( "CNS neoplasm"^^xsd:string) AnnotationAssertion( "malignant neoplasm of central nervous system"^^xsd:string) AnnotationAssertion( "malignant tumor of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3620"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortic aneurysm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string) "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001666"^^xsd:string) AnnotationAssertion( "ICD10CM:I71.1"^^xsd:string) AnnotationAssertion( "ICD10CM:I71.3"^^xsd:string) AnnotationAssertion( "ICD10CM:I71.5"^^xsd:string) AnnotationAssertion( "ICD10CM:I71.8"^^xsd:string) AnnotationAssertion( "ICD10CM:I71.9"^^xsd:string) AnnotationAssertion( "ICD9CM:441.1"^^xsd:string) AnnotationAssertion( "ICD9CM:441.3"^^xsd:string) AnnotationAssertion( "ICD9CM:441.5"^^xsd:string) AnnotationAssertion( "ICD9CM:441.6"^^xsd:string) AnnotationAssertion( "MESH:D001014"^^xsd:string) AnnotationAssertion( "NCI:C26697"^^xsd:string) AnnotationAssertion( "NCI:C27046"^^xsd:string) AnnotationAssertion( "NCI:C27198"^^xsd:string) AnnotationAssertion( "NCI:C27299"^^xsd:string) AnnotationAssertion( "AORTIC DILATATION"^^xsd:string) AnnotationAssertion( "Aortic Aneurysms"^^xsd:string) AnnotationAssertion( "ASCENDING AORTIC DILATION"^^xsd:string) AnnotationAssertion( "FAMILIAL AORTIC ANEURYSMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3627"^^xsd:string) AnnotationAssertion(rdfs:label "aortic aneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=445094"^^xsd:string) "A female reproductive organ cancer that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C55"^^xsd:string) AnnotationAssertion( "ICD9CM:179"^^xsd:string) AnnotationAssertion( "NCI:C3435"^^xsd:string) AnnotationAssertion( "NCI:C3552"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93718007"^^xsd:string) "CA - cancer of uterus"^^xsd:string) AnnotationAssertion( "cancer of the uterus"^^xsd:string) AnnotationAssertion( "cancer of uterus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of body of uterus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of uterus"^^xsd:string) AnnotationAssertion( "malignant uterine tumor"^^xsd:string) AnnotationAssertion( "uterine cancers"^^xsd:string) AnnotationAssertion( "uterus cancer"^^xsd:string) AnnotationAssertion( "uterus cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:363"^^xsd:string) AnnotationAssertion(rdfs:label "uterine cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (beta-mannosidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Beta-mannosidosis"^^xsd:string) "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538599"^^xsd:string) AnnotationAssertion( "GARD:869"^^xsd:string) AnnotationAssertion( "MESH:D044905"^^xsd:string) AnnotationAssertion( "MIM:248510"^^xsd:string) AnnotationAssertion( "MONDO:0009562"^^xsd:string) AnnotationAssertion( "NCI:C84596"^^xsd:string) AnnotationAssertion( "BETA-D-MANNOSIDOSIS"^^xsd:string) AnnotationAssertion( "Lysosomal beta A Mannosidosis"^^xsd:string) AnnotationAssertion( "Lysosomal beta-Mannosidase Deficiencies"^^xsd:string) AnnotationAssertion( "beta Mannosidase Deficiency"^^xsd:string) AnnotationAssertion( "beta-Mannosidoses"^^xsd:string) AnnotationAssertion( "beta-mannosidase deficiencies"^^xsd:string) AnnotationAssertion( "lysosomal beta-mannosidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3633"^^xsd:string) AnnotationAssertion(rdfs:label "beta-mannosidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital myasthenic syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590"^^xsd:string) "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000685"^^xsd:string) AnnotationAssertion( "EFO:0020041"^^xsd:string) AnnotationAssertion( "GARD:11902"^^xsd:string) AnnotationAssertion( "MESH:D020294"^^xsd:string) AnnotationAssertion( "MIM:PS601462"^^xsd:string) AnnotationAssertion( "MIM:PS610542"^^xsd:string) AnnotationAssertion( "NCI:C84647"^^xsd:string) AnnotationAssertion( "ORDO:590"^^xsd:string) AnnotationAssertion( "SYNAPTIC CONGENITAL MYASTHENIC SYNDROME"^^xsd:string) AnnotationAssertion( "congenital myasthenia"^^xsd:string) AnnotationAssertion( "congenital myasthenia gravi"^^xsd:string) AnnotationAssertion( "congenital myasthenia gravis"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, dominant/recessive"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndromes"^^xsd:string) AnnotationAssertion( "congenital slow channel myasthenic syndromes"^^xsd:string) AnnotationAssertion( "congenital slow-channel myasthenic syndrome"^^xsd:string) AnnotationAssertion( "familial limb-girdle myasthenia"^^xsd:string) AnnotationAssertion( "postsynaptic congenital myasthenic syndromes"^^xsd:string) AnnotationAssertion( "presynaptic congenital myasthenic syndromes"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, CHRNE-related"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, due to CHRNE"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3635"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood spinal cord tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9234"^^xsd:string) AnnotationAssertion( "childhood spinal cord neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3637"^^xsd:string) AnnotationAssertion(rdfs:label "childhood spinal cord tumor"^^xsd:string) SubClassOf( ) # Class: (spinal cord intramedullary teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5428"^^xsd:string) AnnotationAssertion( "RDO:9004694"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5428"^^xsd:string) "Intramedullary Spinal teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3639"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord intramedullary teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string) "A teratoma that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5441"^^xsd:string) AnnotationAssertion( "CNS teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3640"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conus medullaris neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5443"^^xsd:string) AnnotationAssertion( "RDO:9004687"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5443"^^xsd:string) "tumor of Conus Medullaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3641"^^xsd:string) AnnotationAssertion(rdfs:label "conus medullaris neoplasm"^^xsd:string) SubClassOf( ) # Class: (empty sella syndrome) AnnotationAssertion(Annotation( "MESH:D004652"^^xsd:string) "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS."^^xsd:string) AnnotationAssertion( "EFO:1000914"^^xsd:string) AnnotationAssertion( "GARD:6331"^^xsd:string) AnnotationAssertion( "MESH:D004652"^^xsd:string) AnnotationAssertion( "NCI:C84686"^^xsd:string) AnnotationAssertion( "Empty Sella Turcica"^^xsd:string) AnnotationAssertion( "Empty Sella Turcica Syndrome"^^xsd:string) AnnotationAssertion( "Empty Sella Turcicas"^^xsd:string) AnnotationAssertion( "Primary Empty Sella Syndrome"^^xsd:string) AnnotationAssertion( "empty sella syndromes"^^xsd:string) AnnotationAssertion( "secondary empty sella syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3642"^^xsd:string) AnnotationAssertion(rdfs:label "empty sella syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sella turcica neoplasm) AnnotationAssertion( "NCI:C4944"^^xsd:string) AnnotationAssertion( "RDO:9004635"^^xsd:string) AnnotationAssertion( "tumor of sella turcica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3643"^^xsd:string) AnnotationAssertion(rdfs:label "sella turcica neoplasm"^^xsd:string) SubClassOf( ) # Class: (hypothalamic neoplasm) AnnotationAssertion(Annotation( "MESH:D007029"^^xsd:string) "Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)"^^xsd:string) AnnotationAssertion( "EFO:1000979"^^xsd:string) AnnotationAssertion( "MESH:D007029"^^xsd:string) AnnotationAssertion( "NCI:C3129"^^xsd:string) AnnotationAssertion( "Benign Hypothalamic Neoplasm"^^xsd:string) AnnotationAssertion( "Benign Hypothalamic Neoplasms"^^xsd:string) AnnotationAssertion( "Hypothalamic Cancer"^^xsd:string) AnnotationAssertion( "Hypothalamic Cancers"^^xsd:string) AnnotationAssertion( "Hypothalamic Chiasmatic Neoplasms"^^xsd:string) AnnotationAssertion( "Hypothalamic Pituitary Neoplasms"^^xsd:string) AnnotationAssertion( "Hypothalamic Teratoma"^^xsd:string) AnnotationAssertion( "Hypothalamic Teratomas"^^xsd:string) AnnotationAssertion( "Hypothalamic Tumor"^^xsd:string) AnnotationAssertion( "Hypothalamic Tumors"^^xsd:string) AnnotationAssertion( "Hypothalamic-Chiasmatic Neoplasm"^^xsd:string) AnnotationAssertion( "Hypothalamic-Pituitary Neoplasm"^^xsd:string) AnnotationAssertion( "Hypothalamo Neurohypophysial Region Neoplasms"^^xsd:string) AnnotationAssertion( "Hypothalamo-Neurohypophysial Region Neoplasm"^^xsd:string) AnnotationAssertion( "Hypothalamus Neoplasm"^^xsd:string) AnnotationAssertion( "Hypothalamus Neoplasms"^^xsd:string) AnnotationAssertion( "Hypothalamus Tumor"^^xsd:string) AnnotationAssertion( "Hypothalamus Tumors"^^xsd:string) AnnotationAssertion( "Malignant Hypothalamic Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Hypothalamic Neoplasms"^^xsd:string) AnnotationAssertion( "hypothalamic neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of the hypothalamus"^^xsd:string) AnnotationAssertion( "tumor of hypothalamus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3644"^^xsd:string) AnnotationAssertion(rdfs:label "hypothalamic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (necrosis of pituitary) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27066"^^xsd:string) AnnotationAssertion( "RDO:9004129"^^xsd:string) AnnotationAssertion( "pituitary necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3646"^^xsd:string) AnnotationAssertion(rdfs:label "necrosis of pituitary"^^xsd:string) SubClassOf( ) # Class: (pyruvate decarboxylase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract"^^xsd:string) "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312170"^^xsd:string) AnnotationAssertion( "OMIA:001406"^^xsd:string) AnnotationAssertion( "EFO:0007459"^^xsd:string) AnnotationAssertion( "GARD:4620"^^xsd:string) AnnotationAssertion( "GARD:7513"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.4"^^xsd:string) AnnotationAssertion( "MESH:D015325"^^xsd:string) AnnotationAssertion( "MIM:PS312170"^^xsd:string) AnnotationAssertion( "NCI:C103968"^^xsd:string) AnnotationAssertion( "ORDO:79243"^^xsd:string) AnnotationAssertion( "Ataxia with Lactic Acidosis I"^^xsd:string) AnnotationAssertion( "Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease"^^xsd:string) AnnotationAssertion( "Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease"^^xsd:string) AnnotationAssertion( "PDH Deficiency"^^xsd:string) AnnotationAssertion( "PDHAD"^^xsd:string) AnnotationAssertion( "PDHC Deficiency"^^xsd:string) AnnotationAssertion( "PDHC Deficiency Disease"^^xsd:string) AnnotationAssertion( "ataxia with lactic acidosis"^^xsd:string) AnnotationAssertion( "deficiency of pyruvic dehydrogenase"^^xsd:string) AnnotationAssertion( "intermittent ataxia with abnormal pyruvate metabolism"^^xsd:string) AnnotationAssertion( "intermittent ataxia with pyruvate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "intermittent ataxia with pyruvate dehydrogenase, or decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "pyruvate dehydrogenase complex deficiency"^^xsd:string) AnnotationAssertion( "pyruvate dehydrogenase complex deficiency disease"^^xsd:string) AnnotationAssertion( "pyruvate dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "type I ataxia with lactic acidosis"^^xsd:string) AnnotationAssertion( "LACTIC ACIDEMIA, THIAMINE-RESPONSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3649"^^xsd:string) AnnotationAssertion(rdfs:label "pyruvate decarboxylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/bladderdiseases.html"^^xsd:string) "A urinary system disease that is located_in the bladder. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000018"^^xsd:string) AnnotationAssertion( "ICD10CM:N32.9"^^xsd:string) AnnotationAssertion( "ICD9CM:596.9"^^xsd:string) AnnotationAssertion( "MESH:D001745"^^xsd:string) AnnotationAssertion( "NCI:C2900"^^xsd:string) AnnotationAssertion( "bladder diseases"^^xsd:string) AnnotationAssertion( "urinary bladder disease"^^xsd:string) AnnotationAssertion( "urinary bladder diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:365"^^xsd:string) AnnotationAssertion(rdfs:label "bladder disease"^^xsd:string) SubClassOf( ) # Class: (lactic acidosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lactic_acidosis"^^xsd:string) "A metabolic acidosis characterized by buildup of lactate. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000036"^^xsd:string) AnnotationAssertion( "ICD10CM:E87.20"^^xsd:string) AnnotationAssertion( "MESH:D000140"^^xsd:string) AnnotationAssertion( "NCI:C98969"^^xsd:string) AnnotationAssertion( "SEIZURES AND LACTIC ACIDOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3650"^^xsd:string) AnnotationAssertion(rdfs:label "lactic acidosis"^^xsd:string) SubClassOf( ) # Class: (pyruvate carboxylase deficiency disease) AnnotationAssertion(Annotation( "http://omim.org/entry/266150"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency"^^xsd:string) "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266150"^^xsd:string) AnnotationAssertion( "EFO:1001142"^^xsd:string) AnnotationAssertion( "MESH:D015324"^^xsd:string) AnnotationAssertion( "NCI:C85040"^^xsd:string) AnnotationAssertion( "PC deficiency"^^xsd:string) AnnotationAssertion( "ataxia with lactic acidosis 2"^^xsd:string) AnnotationAssertion( "ataxia with lactic acidosis II"^^xsd:string) AnnotationAssertion( "deficiency of pyruvic carboxylase"^^xsd:string) AnnotationAssertion( "pyruvate carboxylase deficiency"^^xsd:string) AnnotationAssertion( "type II ataxia with lactic acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3651"^^xsd:string) AnnotationAssertion(rdfs:label "pyruvate carboxylase deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leigh disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leigh%27s_disease"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/leigh-syndrome"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/leigh-syndrome/"^^xsd:string) "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6877"^^xsd:string) AnnotationAssertion( "ICD10CM:G31.82"^^xsd:string) AnnotationAssertion( "MESH:D007888"^^xsd:string) AnnotationAssertion( "MIM:256000"^^xsd:string) AnnotationAssertion( "MONDO:0009723"^^xsd:string) AnnotationAssertion( "NCI:C84814"^^xsd:string) AnnotationAssertion( "OMIA:001097"^^xsd:string) AnnotationAssertion( "ORDO:506"^^xsd:string) AnnotationAssertion( "Juvenile Leigh Disease"^^xsd:string) AnnotationAssertion( "Juvenile Subacute Necrotizing Encephalopathy"^^xsd:string) AnnotationAssertion( "LS"^^xsd:string) AnnotationAssertion( "Leigh Syndrome"^^xsd:string) AnnotationAssertion( "Leigh's Disease"^^xsd:string) AnnotationAssertion( "Leighs Disease"^^xsd:string) AnnotationAssertion( "Subacute Necrotizing Encephalomyelitis"^^xsd:string) AnnotationAssertion( "Subacute Necrotizing Encephalomyelitis, Infantile"^^xsd:string) AnnotationAssertion( "Subacute Necrotizing Encephalomyelopathies"^^xsd:string) AnnotationAssertion( "infantile Leigh disease"^^xsd:string) AnnotationAssertion( "infantile necrotizing encephalomyelopathy"^^xsd:string) AnnotationAssertion( "infantile subacute necrotizing encephalopathy"^^xsd:string) AnnotationAssertion( "juvenile subacute necrotizing encephalomyelopathy"^^xsd:string) AnnotationAssertion( "subacute necrotising encephalopathy of Leigh"^^xsd:string) AnnotationAssertion( "subacute necrotizing encephalomyelitides"^^xsd:string) AnnotationAssertion( "subacute necrotizing encephalomyelopathy"^^xsd:string) AnnotationAssertion( "subacute necrotizing encephalopathies"^^xsd:string) AnnotationAssertion( "subacute necrotizing encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3652"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sialuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sialuria"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1164/"^^xsd:string) Annotation( "http://www.omim.org/entry/269921"^^xsd:string) "A lysosomal storage disease characterized by increased sialic acid in the urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:269921"^^xsd:string) AnnotationAssertion( "MIM:604369"^^xsd:string) AnnotationAssertion( "MESH:D029461"^^xsd:string) AnnotationAssertion( "NCI:C85067"^^xsd:string) AnnotationAssertion( "Finnish Type Sialuria"^^xsd:string) AnnotationAssertion( "Finnish type sialurias"^^xsd:string) AnnotationAssertion( "NSD"^^xsd:string) AnnotationAssertion( "SD"^^xsd:string) AnnotationAssertion( "Salla Disease"^^xsd:string) AnnotationAssertion( "Sialic Acid Storage Disease"^^xsd:string) AnnotationAssertion( "Sialic Acid Storage Disease, Finnish Type"^^xsd:string) AnnotationAssertion( "sialurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3659"^^xsd:string) AnnotationAssertion(rdfs:label "sialuria"^^xsd:string) SubClassOf( ) # Class: (wheat allergy) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897"^^xsd:string) "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001243"^^xsd:string) AnnotationAssertion( "MESH:D021182"^^xsd:string) AnnotationAssertion( "Wheat Allergies"^^xsd:string) AnnotationAssertion( "allergy to wheat"^^xsd:string) AnnotationAssertion( "wheat allergic reaction"^^xsd:string) AnnotationAssertion( "wheat hypersensitivities"^^xsd:string) AnnotationAssertion( "wheat hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3660"^^xsd:string) AnnotationAssertion(rdfs:label "wheat allergy"^^xsd:string) SubClassOf( ) # Class: (cutaneous mastocytosis) AnnotationAssertion(Annotation( "MESH:D034701"^^xsd:string) "Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN."^^xsd:string) AnnotationAssertion( "EFO:1000886"^^xsd:string) AnnotationAssertion( "GARD:7842"^^xsd:string) AnnotationAssertion( "MESH:D034701"^^xsd:string) AnnotationAssertion( "NCI:C7137"^^xsd:string) AnnotationAssertion( "Bullous Mastocytosis"^^xsd:string) AnnotationAssertion( "CM"^^xsd:string) AnnotationAssertion( "Cutaneous Mastocytoses"^^xsd:string) AnnotationAssertion( "Skin Mastocytoses"^^xsd:string) AnnotationAssertion( "bullous mastocytoses"^^xsd:string) AnnotationAssertion( "skin mastocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3663"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous mastocytosis"^^xsd:string) SubClassOf( ) # Class: (mast cell neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mastocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=410729"^^xsd:string) "A hematologic cancer that has_material_basis_in mast cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009000"^^xsd:string) AnnotationAssertion( "NCI:C129077"^^xsd:string) AnnotationAssertion( "NCI:C21632"^^xsd:string) AnnotationAssertion( "NCI:C9295"^^xsd:string) AnnotationAssertion( "mast cell proliferative disease"^^xsd:string) AnnotationAssertion( "mast cell tumor"^^xsd:string) AnnotationAssertion( "mastocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3664"^^xsd:string) AnnotationAssertion(rdfs:label "mast cell neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse cutaneous mastocytosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12686"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.01"^^xsd:string) AnnotationAssertion( "NCI:C3218"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3665"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse cutaneous mastocytosis"^^xsd:string) SubClassOf( ) # Class: (solitary mastocytoma of the skin) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/B9781416030317000127"^^xsd:string) "A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001844"^^xsd:string) AnnotationAssertion( "MESH:D054705"^^xsd:string) AnnotationAssertion( "NCI:C7138"^^xsd:string) AnnotationAssertion( "cutaneous solitary mastocytoma"^^xsd:string) AnnotationAssertion( "skin mastocytoma"^^xsd:string) AnnotationAssertion( "solitary mastocytoma"^^xsd:string) AnnotationAssertion( "solitary mastocytoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3666"^^xsd:string) AnnotationAssertion(rdfs:label "solitary mastocytoma of the skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermittent claudication) AnnotationAssertion(Annotation( "MESH:D007383"^^xsd:string) "A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE."^^xsd:string) AnnotationAssertion( "EFO:0003876"^^xsd:string) AnnotationAssertion( "ICD10CM:I73.9"^^xsd:string) AnnotationAssertion( "MESH:D007383"^^xsd:string) AnnotationAssertion( "Charcot's syndrome"^^xsd:string) AnnotationAssertion( "intermittent vascular claudication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3669"^^xsd:string) AnnotationAssertion(rdfs:label "intermittent claudication"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (olfactory nerve disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Olfactory_nerve"^^xsd:string) "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G52.0"^^xsd:string) AnnotationAssertion( "ICD9CM:352.0"^^xsd:string) AnnotationAssertion( "MESH:D020431"^^xsd:string) AnnotationAssertion( "NCI:C27210"^^xsd:string) AnnotationAssertion( "Cranial Nerve I Diseases"^^xsd:string) AnnotationAssertion( "Cranial Nerve I Disorders"^^xsd:string) AnnotationAssertion( "First Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "disorder of 1st nerve"^^xsd:string) AnnotationAssertion( "disorder of olfactory [1st] nerve"^^xsd:string) AnnotationAssertion( "disorder of olfactory nerve"^^xsd:string) AnnotationAssertion( "olfactory nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:367"^^xsd:string) AnnotationAssertion(rdfs:label "olfactory nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pericoronitis) AnnotationAssertion(Annotation( "MESH:D010497"^^xsd:string) "Inflammation of the gingiva surrounding the crown of a tooth."^^xsd:string) AnnotationAssertion( "EFO:1001098"^^xsd:string) AnnotationAssertion( "MESH:D010497"^^xsd:string) AnnotationAssertion( "Pericoronitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3671"^^xsd:string) AnnotationAssertion(rdfs:label "pericoronitis"^^xsd:string) SubClassOf( ) # Class: (rhabdoid cancer) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor"^^xsd:string) "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005701"^^xsd:string) AnnotationAssertion( "GARD:7572"^^xsd:string) AnnotationAssertion( "MESH:D018335"^^xsd:string) AnnotationAssertion( "MIM:PS609322"^^xsd:string) AnnotationAssertion( "NCI:C3808"^^xsd:string) AnnotationAssertion( "ORDO:69077"^^xsd:string) AnnotationAssertion( "Rhabdoid sarcoma"^^xsd:string) AnnotationAssertion( "malignant rhabdoid tumour"^^xsd:string) AnnotationAssertion( "rhabdoid tumor"^^xsd:string) AnnotationAssertion( "rhabdoid tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3672"^^xsd:string) AnnotationAssertion(rdfs:label "rhabdoid cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney rhabdoid cancer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32853941/"^^xsd:string) "A embryonal cancer that is located in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000512"^^xsd:string) AnnotationAssertion( "NCI:C8715"^^xsd:string) AnnotationAssertion( "kidney rhabdoid tumor"^^xsd:string) AnnotationAssertion( "renal rhabdoid tumor"^^xsd:string) AnnotationAssertion( "rhabdoid tumor of the kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3674"^^xsd:string) AnnotationAssertion(rdfs:label "kidney rhabdoid cancer"^^xsd:string) SubClassOf( ) # Class: (childhood kidney cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8000/3"^^xsd:string) AnnotationAssertion( "NCI:C6563"^^xsd:string) AnnotationAssertion( "RDO:9005107"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6563"^^xsd:string) "pediatric renal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3675"^^xsd:string) AnnotationAssertion(rdfs:label "childhood kidney cancer"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (pulmonary plasma cell granuloma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/2336294/"^^xsd:string) "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001135"^^xsd:string) AnnotationAssertion( "MESH:D016726"^^xsd:string) AnnotationAssertion( "Inflammatory Pseudotumor of Lung"^^xsd:string) AnnotationAssertion( "Inflammatory Pulmonary Pseudotumor"^^xsd:string) AnnotationAssertion( "Inflammatory Pulmonary Pseudotumors"^^xsd:string) AnnotationAssertion( "Plasma Cell Granuloma of Lung"^^xsd:string) AnnotationAssertion( "lymphocytic pseudotumor of lung"^^xsd:string) AnnotationAssertion( "sclerosing hemangiocytoma of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3677"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary plasma cell granuloma"^^xsd:string) SubClassOf( ) # Class: (cerebrum cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebrum"^^xsd:string) "A supratentorial cancer that is located_in the cerebrum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:191.8"^^xsd:string) AnnotationAssertion( "NCI:C4874"^^xsd:string) AnnotationAssertion( "cerebral cancer"^^xsd:string) AnnotationAssertion( "neoplasm of cerebrum"^^xsd:string) AnnotationAssertion( "tumor of cerebrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:368"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrum cancer"^^xsd:string) SubClassOf( ) # Class: (lung benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3200"^^xsd:string) AnnotationAssertion( "RDO:9001993"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3200"^^xsd:string) "tumor of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3683"^^xsd:string) AnnotationAssertion(rdfs:label "lung benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MELAS syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes"^^xsd:string) "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:540000"^^xsd:string) AnnotationAssertion( "EFO:0000192"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.41"^^xsd:string) AnnotationAssertion( "MESH:D017241"^^xsd:string) AnnotationAssertion( "MONDO:0010789"^^xsd:string) AnnotationAssertion( "NCI:C84885"^^xsd:string) AnnotationAssertion( "JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE"^^xsd:string) AnnotationAssertion( "MELAS"^^xsd:string) AnnotationAssertion( "Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes"^^xsd:string) AnnotationAssertion( "Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes"^^xsd:string) AnnotationAssertion( "Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode"^^xsd:string) AnnotationAssertion( "mitochondrial myopathy-encephalopathy-lactic acidosis-stroke"^^xsd:string) AnnotationAssertion( "PARKINSONISM/MELAS OVERLAP SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3687"^^xsd:string) AnnotationAssertion(rdfs:label "MELAS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (plexopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009559"^^xsd:string) AnnotationAssertion( "NCI:C27744"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3688"^^xsd:string) AnnotationAssertion(rdfs:label "plexopathy"^^xsd:string) SubClassOf( ) # Class: (brachial plexus neuritis) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis"^^xsd:string) "A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. (DO)"^^xsd:string) AnnotationAssertion( "MIM:162100"^^xsd:string) AnnotationAssertion( "EFO:1000843"^^xsd:string) AnnotationAssertion( "ICD10CM:G54.5"^^xsd:string) AnnotationAssertion( "MESH:D020968"^^xsd:string) AnnotationAssertion( "NCI:C84600"^^xsd:string) AnnotationAssertion( "Amyotrophic Neuralgia"^^xsd:string) AnnotationAssertion( "Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus"^^xsd:string) AnnotationAssertion( "Brachial Neuralgia"^^xsd:string) AnnotationAssertion( "Brachial Neuritis"^^xsd:string) AnnotationAssertion( "Brachial Plexus Neuritides"^^xsd:string) AnnotationAssertion( "Cervico Brachial Neuralgia"^^xsd:string) AnnotationAssertion( "Cervico-Brachial Neuralgias"^^xsd:string) AnnotationAssertion( "Cervicobrachial Neuralgia"^^xsd:string) AnnotationAssertion( "Cervicobrachial Neuralgias"^^xsd:string) AnnotationAssertion( "Familial Brachial Plexus Neuritis"^^xsd:string) AnnotationAssertion( "HEREDITARY NEURALGIC AMYOTROPHY (HNA)"^^xsd:string) AnnotationAssertion( "HNA"^^xsd:string) AnnotationAssertion( "Hereditary Brachial Plexus Neuropathy"^^xsd:string) AnnotationAssertion( "Hereditary Neuralgic Amyotrophies"^^xsd:string) AnnotationAssertion( "Hereditary Neuralgic Amyotrophy"^^xsd:string) AnnotationAssertion( "Heredofamilial Neuritis with Brachial Plexus Predilection"^^xsd:string) AnnotationAssertion( "NAPB"^^xsd:string) AnnotationAssertion( "Parsonage Aldren Turner Syndrome"^^xsd:string) AnnotationAssertion( "Parsonage Turner Syndrome"^^xsd:string) AnnotationAssertion( "amyotrophic neuralgias"^^xsd:string) AnnotationAssertion( "brachial neuralgias"^^xsd:string) AnnotationAssertion( "brachial neuritides"^^xsd:string) AnnotationAssertion( "neuritis with brachial predilection"^^xsd:string) AnnotationAssertion( "shoulder girdle neuropathies"^^xsd:string) AnnotationAssertion( "shoulder girdle neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3689"^^xsd:string) AnnotationAssertion(rdfs:label "brachial plexus neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (olfactory neuroblastoma) AnnotationAssertion(Annotation( "MESH:D018304"^^xsd:string) "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33)"^^xsd:string) AnnotationAssertion( "EFO:1000407"^^xsd:string) AnnotationAssertion( "GARD:2197"^^xsd:string) AnnotationAssertion( "ICDO:9522/3"^^xsd:string) AnnotationAssertion( "MESH:D018304"^^xsd:string) AnnotationAssertion( "NCI:C3789"^^xsd:string) AnnotationAssertion( "NCI:C6016"^^xsd:string) AnnotationAssertion( "Aesthesioneuroblastoma"^^xsd:string) AnnotationAssertion( "Esthesioneuroblastoma"^^xsd:string) AnnotationAssertion( "Esthesioneuroblastomas"^^xsd:string) AnnotationAssertion( "Olfactory Esthesioneuroblastomas"^^xsd:string) AnnotationAssertion( "Olfactory Neuroblastomas"^^xsd:string) AnnotationAssertion( "aesthesioneuroblastomas"^^xsd:string) AnnotationAssertion( "asthesioneuroblastoma"^^xsd:string) AnnotationAssertion( "esthesioneuroepithelioma"^^xsd:string) AnnotationAssertion( "olfactory esthesioneuroblastoma"^^xsd:string) AnnotationAssertion( "paranasal sinus nasal cavity esthesioneuroblastoma"^^xsd:string) AnnotationAssertion( "paranasal sinus olfactory neuroblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:369"^^xsd:string) AnnotationAssertion(rdfs:label "olfactory neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brachial plexus neuropathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30688233/"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061"^^xsd:string) "A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000844"^^xsd:string) AnnotationAssertion( "ICD10CM:G54.0"^^xsd:string) AnnotationAssertion( "MESH:D020516"^^xsd:string) AnnotationAssertion( "NCI:C27194"^^xsd:string) AnnotationAssertion( "Brachial Plexopathy"^^xsd:string) AnnotationAssertion( "Brachial Plexus Disease"^^xsd:string) AnnotationAssertion( "Brachial Plexus Disorder"^^xsd:string) AnnotationAssertion( "Brachial Plexus Neuropathies"^^xsd:string) AnnotationAssertion( "Dejerine Klumpke Palsy"^^xsd:string) AnnotationAssertion( "Erb Duchenne Paralysis"^^xsd:string) AnnotationAssertion( "Erb Palsy"^^xsd:string) AnnotationAssertion( "Erb Paralyses"^^xsd:string) AnnotationAssertion( "Erb Paralysis"^^xsd:string) AnnotationAssertion( "Erb's Palsies"^^xsd:string) AnnotationAssertion( "Erb's Palsy"^^xsd:string) AnnotationAssertion( "Erb-Duchenne Paralyses"^^xsd:string) AnnotationAssertion( "Erbs Palsy"^^xsd:string) AnnotationAssertion( "Klumpke Palsy"^^xsd:string) AnnotationAssertion( "Klumpke Paralysis"^^xsd:string) AnnotationAssertion( "Klumpke's Palsy"^^xsd:string) AnnotationAssertion( "Klumpkes Palsy"^^xsd:string) AnnotationAssertion( "Lower Brachial Plexus Neuropathy"^^xsd:string) AnnotationAssertion( "Lower Brachial Plexus Palsy"^^xsd:string) AnnotationAssertion( "Middle Brachial Plexus Neuropathy"^^xsd:string) AnnotationAssertion( "Paralysis of the Lower Brachial Plexus"^^xsd:string) AnnotationAssertion( "brachial plexopathies"^^xsd:string) AnnotationAssertion( "brachial plexus diseases"^^xsd:string) AnnotationAssertion( "brachial plexus disorders"^^xsd:string) AnnotationAssertion( "upper brachial plexus neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3690"^^xsd:string) AnnotationAssertion(rdfs:label "brachial plexus neuropathy"^^xsd:string) SubClassOf( ) # Class: (anal colloid adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5606"^^xsd:string) AnnotationAssertion( "RDO:9004071"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5606"^^xsd:string) "mucinous adenocarcinoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3691"^^xsd:string) AnnotationAssertion(rdfs:label "anal colloid adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal canal adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An anal canal cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7471"^^xsd:string) AnnotationAssertion( "adenocarcinoma of anal canal"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the anal canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3692"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater mucinous adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27416"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3693"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute sanguinous otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string) "A acute transudative otitis media which involves bloody effusion. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:381.03"^^xsd:string) AnnotationAssertion( "RDO:9003857"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3696"^^xsd:string) AnnotationAssertion(rdfs:label "acute sanguinous otitis media"^^xsd:string) SubClassOf( ) # Class: (acute transudative otitis media) AnnotationAssertion(Annotation( "http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/1195971"^^xsd:string) "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:381.0"^^xsd:string) AnnotationAssertion( "acute non-suppurative otitis media"^^xsd:string) AnnotationAssertion( "acute nonsuppurative otitis media"^^xsd:string) AnnotationAssertion( "acute otitis media with effusion"^^xsd:string) AnnotationAssertion( "acute secretory otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3697"^^xsd:string) AnnotationAssertion(rdfs:label "acute transudative otitis media"^^xsd:string) SubClassOf( ) # Class: (bile duct mucinous adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5846"^^xsd:string) AnnotationAssertion( "mucinous carcinoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3698"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine ligament mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf"^^xsd:string) "A uterine ligament adenocarcinoma that produces mucin. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40137"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3699"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Skin_disease"^^xsd:string) "An integumentary system disease that is located_in skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000701"^^xsd:string) AnnotationAssertion( "EFO:0009522"^^xsd:string) AnnotationAssertion( "EFO:0010687"^^xsd:string) AnnotationAssertion( "ICD9CM:702"^^xsd:string) AnnotationAssertion( "MESH:D012871"^^xsd:string) AnnotationAssertion( "NCI:C156032"^^xsd:string) AnnotationAssertion( "NCI:C27554"^^xsd:string) AnnotationAssertion( "NCI:C3371"^^xsd:string) AnnotationAssertion( "dermatoses"^^xsd:string) AnnotationAssertion( "dermatosis"^^xsd:string) AnnotationAssertion( "genodermatosis"^^xsd:string) AnnotationAssertion( "skin and subcutaneous tissue disease"^^xsd:string) AnnotationAssertion( "skin diseases"^^xsd:string) AnnotationAssertion( "skin disorder"^^xsd:string) AnnotationAssertion( "disturbance of skin sensation"^^xsd:string) AnnotationAssertion( "neonatal erythema toxicum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:37"^^xsd:string) AnnotationAssertion(rdfs:label "skin disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant olfactory nerve neoplasm) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T11:59:17Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C72.2"^^xsd:string) AnnotationAssertion( "NCI:C4768"^^xsd:string) AnnotationAssertion( "malignant olfactory nerve tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of olfactory nerve"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of olfactory nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:370"^^xsd:string) AnnotationAssertion(rdfs:label "malignant olfactory nerve neoplasm"^^xsd:string) SubClassOf( ) # Class: (uterine ligament adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26699941"^^xsd:string) "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40135"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3700"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (cervical mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24199926"^^xsd:string) "A cervical adenocarcinoma that derives_from mucin producing epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36095"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3701"^^xsd:string) AnnotationAssertion(rdfs:label "cervical mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A cervix carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001416"^^xsd:string) AnnotationAssertion( "NCI:C4029"^^xsd:string) AnnotationAssertion( "adenocarcinoma cervix uteri"^^xsd:string) AnnotationAssertion( "adenocarcinoma of cervix"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the uterine cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3702"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate colloid adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11145249"^^xsd:string) "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000065"^^xsd:string) AnnotationAssertion( "NCI:C5537"^^xsd:string) AnnotationAssertion( "acinar colloid prostate adenocarcinoma"^^xsd:string) AnnotationAssertion( "acinar prostate mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "colloid adenocarcinoma of prostate"^^xsd:string) AnnotationAssertion( "colloidal adenocarcinoma of prostate"^^xsd:string) AnnotationAssertion( "mucinous adenocarcinoma of prostate"^^xsd:string) AnnotationAssertion( "prostate acinar mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3703"^^xsd:string) AnnotationAssertion(rdfs:label "prostate colloid adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/"^^xsd:string) "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3704"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube mucinous tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26894303/"^^xsd:string) "A fallopian tube benign neoplasm that produces mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3705"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube mucinous tumor"^^xsd:string) SubClassOf( ) # Class: (fallopian tube adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6265"^^xsd:string) AnnotationAssertion( "RDO:9002515"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6265"^^xsd:string) "adenocarcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3706"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22569105"^^xsd:string) "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000236"^^xsd:string) AnnotationAssertion( "NCI:C40144"^^xsd:string) AnnotationAssertion( "uterine corpus mucinous adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3707"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/"^^xsd:string) "A rectal adenocarcinoma that produces mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7973"^^xsd:string) AnnotationAssertion( "colloidal adenocarcinoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3709"^^xsd:string) AnnotationAssertion(rdfs:label "rectum mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extracranial neuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5437"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:371"^^xsd:string) AnnotationAssertion(rdfs:label "extracranial neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (bladder colloid adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39837"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3710"^^xsd:string) AnnotationAssertion(rdfs:label "bladder colloid adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A bladder carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000125"^^xsd:string) AnnotationAssertion( "NCI:C39836"^^xsd:string) AnnotationAssertion( "NCI:C4032"^^xsd:string) AnnotationAssertion( "RDO:9001956"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C39836"^^xsd:string) "bladder adenocarcinoma, Not Otherwise Specified"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of bladder"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "DOID:3711"^^xsd:string) AnnotationAssertion(rdfs:label "bladder adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovary adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An ovarian carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006460"^^xsd:string) AnnotationAssertion( "NCI:C129858"^^xsd:string) AnnotationAssertion( "NCI:C7700"^^xsd:string) AnnotationAssertion( "RDO:9002507"^^xsd:string) AnnotationAssertion( "ovarian adenoacanthoma"^^xsd:string) AnnotationAssertion( "ovarian adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the ovary"^^xsd:string) AnnotationAssertion( "DOID:3713"^^xsd:string) AnnotationAssertion(rdfs:label "ovary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinous stomach adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000386"^^xsd:string) AnnotationAssertion( "NCI:C5248"^^xsd:string) AnnotationAssertion( "mucinous adenocarcinoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3716"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous stomach adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A stomach carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000503"^^xsd:string) AnnotationAssertion( "EFO:0000504"^^xsd:string) AnnotationAssertion( "NCI:C24227"^^xsd:string) AnnotationAssertion( "NCI:C4004"^^xsd:string) AnnotationAssertion( "adenocarcinoma of stomach"^^xsd:string) AnnotationAssertion( "cancer of stomach, adenocarcinoma"^^xsd:string) AnnotationAssertion( "stomach adenocarcinoma"^^xsd:string) AnnotationAssertion( "gastric intestinal type adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3717"^^xsd:string) AnnotationAssertion(rdfs:label "gastric adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extramedullary plasmacytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C90.2"^^xsd:string) AnnotationAssertion( "NCI:C4002"^^xsd:string) AnnotationAssertion( "extraosseous plasmacytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3720"^^xsd:string) AnnotationAssertion(rdfs:label "extramedullary plasmacytoma"^^xsd:string) SubClassOf( ) # Class: (plasmacytoma) AnnotationAssertion(Annotation( "MESH:D010954"^^xsd:string) "Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites."^^xsd:string) AnnotationAssertion( "EFO:0006738"^^xsd:string) AnnotationAssertion( "ICD10CM:C90.3"^^xsd:string) AnnotationAssertion( "ICDO:9731/3"^^xsd:string) AnnotationAssertion( "MESH:D010954"^^xsd:string) AnnotationAssertion( "NCI:C21631"^^xsd:string) AnnotationAssertion( "NCI:C6932"^^xsd:string) AnnotationAssertion( "NCI:C9349"^^xsd:string) AnnotationAssertion( "Plasma Cell Tumor"^^xsd:string) AnnotationAssertion( "Plasma Cell Tumors"^^xsd:string) AnnotationAssertion( "Plasmacytomas"^^xsd:string) AnnotationAssertion( "Plasmocytoma"^^xsd:string) AnnotationAssertion( "Plasmocytomas"^^xsd:string) AnnotationAssertion( "solitary myeloma"^^xsd:string) AnnotationAssertion( "solitary plasmacytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3721"^^xsd:string) AnnotationAssertion(rdfs:label "plasmacytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (solitary osseous plasmacytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7812"^^xsd:string) AnnotationAssertion( "isolated osseous plasmacytoma"^^xsd:string) AnnotationAssertion( "solitary plasmacytoma of bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3722"^^xsd:string) AnnotationAssertion(rdfs:label "solitary osseous plasmacytoma"^^xsd:string) SubClassOf( ) # Class: (solitary plasmacytoma of chest wall) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6711"^^xsd:string) AnnotationAssertion( "solitary plasmacytoma of the chest wall"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3723"^^xsd:string) AnnotationAssertion(rdfs:label "solitary plasmacytoma of chest wall"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute allergic sanguinous otitis media) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string) "A acute sanguinous otitis media caused by an allergen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:381.06"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3728"^^xsd:string) AnnotationAssertion(rdfs:label "acute allergic sanguinous otitis media"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (theileriasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/East_Coast_fever"^^xsd:string) "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007506"^^xsd:string) AnnotationAssertion( "MESH:D013801"^^xsd:string) AnnotationAssertion( "Corridor Disease"^^xsd:string) AnnotationAssertion( "East Coast Fever"^^xsd:string) AnnotationAssertion( "Theileriases"^^xsd:string) AnnotationAssertion( "Theilerioses"^^xsd:string) AnnotationAssertion( "Theileriosis"^^xsd:string) AnnotationAssertion( "infection by Theileria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3733"^^xsd:string) AnnotationAssertion(rdfs:label "theileriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (verrucous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Verrucous_carcinoma"^^xsd:string) "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007535"^^xsd:string) AnnotationAssertion( "ICDO:8051/3"^^xsd:string) AnnotationAssertion( "MESH:D018289"^^xsd:string) AnnotationAssertion( "NCI:C3781"^^xsd:string) AnnotationAssertion( "Warty carcinoma"^^xsd:string) AnnotationAssertion( "verrucous carcinomas"^^xsd:string) AnnotationAssertion( "verrucous squamous carcinoma"^^xsd:string) AnnotationAssertion( "verrucous squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3737"^^xsd:string) AnnotationAssertion(rdfs:label "verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nutrition disease) AnnotationAssertion(Annotation( "http://www.who.int/topics/nutrition_disorders/en/"^^xsd:string) "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001069"^^xsd:string) AnnotationAssertion( "MESH:D009748"^^xsd:string) AnnotationAssertion( "NCI:C26836"^^xsd:string) AnnotationAssertion( "Nutrition Disorder"^^xsd:string) AnnotationAssertion( "Nutritional Disorder"^^xsd:string) AnnotationAssertion( "nutrition disorders"^^xsd:string) AnnotationAssertion( "nutritional disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:374"^^xsd:string) AnnotationAssertion(rdfs:label "nutrition disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulva verrucous carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/"^^xsd:string) "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6383"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3740"^^xsd:string) AnnotationAssertion(rdfs:label "vulva verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder verrucous squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3741"^^xsd:string) AnnotationAssertion(rdfs:label "bladder verrucous squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder squamous cell carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/bladder"^^xsd:string) "A carcinoma of bladder that is manifested in squamous cells of the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000130"^^xsd:string) AnnotationAssertion( "NCI:C4031"^^xsd:string) AnnotationAssertion( "RDO:9001958"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of bladder"^^xsd:string) AnnotationAssertion( "DOID:3742"^^xsd:string) AnnotationAssertion(rdfs:label "bladder squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical verrucous carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18214065"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3743"^^xsd:string) AnnotationAssertion(rdfs:label "cervical verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=752829"^^xsd:string) "A cervix carcinoma that has_material_basis_in squamous cells of the cervix. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000022"^^xsd:string) AnnotationAssertion( "EFO:1000172"^^xsd:string) AnnotationAssertion( "NCI:C24077"^^xsd:string) AnnotationAssertion( "NCI:C4028"^^xsd:string) AnnotationAssertion( "RDO:9001097"^^xsd:string) AnnotationAssertion( "Squamous Cell Carcinoma Of Cervix"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4028"^^xsd:string) "squamous cell carcinoma of the Cervix Uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3744"^^xsd:string) AnnotationAssertion(rdfs:label "cervical squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27420"^^xsd:string) AnnotationAssertion( "oesophagus verrucous carcinoma"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of esophagus"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of oesophagus"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of the esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3747"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus squamous cell carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/esophageal"^^xsd:string) "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133239"^^xsd:string) AnnotationAssertion( "EFO:0005922"^^xsd:string) AnnotationAssertion( "MESH:D000077277"^^xsd:string) AnnotationAssertion( "NCI:C191763"^^xsd:string) AnnotationAssertion( "NCI:C4024"^^xsd:string) AnnotationAssertion( "SCC of esophagus"^^xsd:string) AnnotationAssertion( "SCC of oesophagus"^^xsd:string) AnnotationAssertion( "esophageal squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "oesophagus squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of esophagus"^^xsd:string) AnnotationAssertion( "Esophageal squamous cell carcinoma, somatic"^^xsd:string) AnnotationAssertion( "LZTS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ESCC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:3748"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urethral verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39874"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3749"^^xsd:string) AnnotationAssertion(rdfs:label "urethral verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethra squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous_cell_carcinoma"^^xsd:string) "A cancer of urethra that shows squamous cell differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6165"^^xsd:string) AnnotationAssertion( "RDO:9002366"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "urethral Epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "DOID:3750"^^xsd:string) AnnotationAssertion(rdfs:label "urethra squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plantar verrucous skin carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6811"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3751"^^xsd:string) AnnotationAssertion(rdfs:label "plantar verrucous skin carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (larynx verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8188"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of the larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3752"^^xsd:string) AnnotationAssertion(rdfs:label "larynx verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hermansky-Pudlak syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract"^^xsd:string) "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6643"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.331"^^xsd:string) AnnotationAssertion( "MESH:D022861"^^xsd:string) AnnotationAssertion( "MIM:PS203300"^^xsd:string) AnnotationAssertion( "NCI:C37261"^^xsd:string) AnnotationAssertion( "ORDO:231531"^^xsd:string) AnnotationAssertion( "ORDO:231537"^^xsd:string) AnnotationAssertion( "ORDO:280663"^^xsd:string) AnnotationAssertion( "ORDO:79430"^^xsd:string) AnnotationAssertion( "HPS"^^xsd:string) AnnotationAssertion( "Hermanski-Pudlak syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3753"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (antithrombin III deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Antithrombin_III_deficiency"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract"^^xsd:string) "A thrombophilia that is characterized by the tendency to form clots in the veins. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613118"^^xsd:string) AnnotationAssertion( "MESH:D020152"^^xsd:string) AnnotationAssertion( "NCI:C98815"^^xsd:string) AnnotationAssertion( "ANTITHROMBIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "AT III deficiency"^^xsd:string) AnnotationAssertion( "AT3D"^^xsd:string) AnnotationAssertion( "Antithrombin 3 Deficiency"^^xsd:string) AnnotationAssertion( "Antithrombin III Deficiencies"^^xsd:string) AnnotationAssertion( "Congenital Antithrombin III Deficiency"^^xsd:string) AnnotationAssertion( "Hereditary Antithrombin Deficiency"^^xsd:string) AnnotationAssertion( "REDUCED ANTITHROMBIN III ACTIVITY"^^xsd:string) AnnotationAssertion( "THPH7"^^xsd:string) AnnotationAssertion( "antithrombin 3 deficiencies"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia due to congenital antithrombin deficiency"^^xsd:string) AnnotationAssertion( "thrombophilia due to antithrombin III deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3755"^^xsd:string) AnnotationAssertion(rdfs:label "antithrombin III deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (protein C deficiency) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10942114/"^^xsd:string) "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009316"^^xsd:string) AnnotationAssertion( "GARD:4521"^^xsd:string) AnnotationAssertion( "MESH:D020151"^^xsd:string) AnnotationAssertion( "NCI:C99025"^^xsd:string) AnnotationAssertion( "ORDO:745"^^xsd:string) AnnotationAssertion( "Hereditary Thrombophilia Due To Protein C Deficiency"^^xsd:string) AnnotationAssertion( "Protein C Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3756"^^xsd:string) AnnotationAssertion(rdfs:label "protein C deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cytochrome-c oxidase deficiency disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26846578"^^xsd:string) "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009298"^^xsd:string) AnnotationAssertion( "GARD:48"^^xsd:string) AnnotationAssertion( "MESH:D030401"^^xsd:string) AnnotationAssertion( "MIM:PS220110"^^xsd:string) AnnotationAssertion( "NCI:C98910"^^xsd:string) AnnotationAssertion( "Complex IV Deficiency"^^xsd:string) AnnotationAssertion( "Cox Deficiencies"^^xsd:string) AnnotationAssertion( "Cox Deficiency"^^xsd:string) AnnotationAssertion( "Cytochrome Oxidase Deficiencies"^^xsd:string) AnnotationAssertion( "Cytochrome Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "Cytochrome c Oxidase I Deficiency"^^xsd:string) AnnotationAssertion( "complex IV deficiencies"^^xsd:string) AnnotationAssertion( "cytochrome-c oxidase deficiencies"^^xsd:string) AnnotationAssertion( "cytochrome-c oxidase deficiency"^^xsd:string) AnnotationAssertion( "early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial complex IV deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "sensorineural deafness with neurologic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3762"^^xsd:string) AnnotationAssertion(rdfs:label "cytochrome-c oxidase deficiency disease"^^xsd:string) SubClassOf( ) # Class: (hermaphroditism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C45909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3763"^^xsd:string) AnnotationAssertion(rdfs:label "hermaphroditism"^^xsd:string) SubClassOf( ) # Class: (Denys-Drash syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN"^^xsd:string) "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)"^^xsd:string) AnnotationAssertion( "MIM:194080"^^xsd:string) AnnotationAssertion( "GARD:5576"^^xsd:string) AnnotationAssertion( "MESH:D030321"^^xsd:string) AnnotationAssertion( "NCI:C84668"^^xsd:string) AnnotationAssertion( "DDS"^^xsd:string) AnnotationAssertion( "Drash syndrome"^^xsd:string) AnnotationAssertion( "Wilms tumor and pseudo- or true hermaphroditism"^^xsd:string) AnnotationAssertion( "Wilms tumor and pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "nephropathy, Wilms tumor, and genital anomalies"^^xsd:string) AnnotationAssertion( "pseudohermaphroditism, nephron disorder and Wilms' tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3764"^^xsd:string) AnnotationAssertion(rdfs:label "Denys-Drash syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pseudohermaphroditism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005579"^^xsd:string) AnnotationAssertion( "ICD10CM:Q56"^^xsd:string) AnnotationAssertion( "ICD10CM:Q56.3"^^xsd:string) AnnotationAssertion( "ICD9CM:752.7"^^xsd:string) AnnotationAssertion( "NCI:C124575"^^xsd:string) AnnotationAssertion( "indeterminate sex and pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3765"^^xsd:string) AnnotationAssertion(rdfs:label "pseudohermaphroditism"^^xsd:string) SubClassOf( ) # Class: (leukorrhea) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27773511"^^xsd:string) "A vaginal discharge that is characterized by a whitish or yellow color. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N89.8"^^xsd:string) AnnotationAssertion( "MESH:D007973"^^xsd:string) AnnotationAssertion( "NCI:C34775"^^xsd:string) AnnotationAssertion( "Leukorrheas"^^xsd:string) AnnotationAssertion( "discharge - leukorrhea"^^xsd:string) AnnotationAssertion( "leukorrhea of vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3766"^^xsd:string) AnnotationAssertion(rdfs:label "leukorrhea"^^xsd:string) SubClassOf( ) # Class: (vaginal discharge) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23889917"^^xsd:string) "A vaginal disease that is characterized by the presence of discharge. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009365"^^xsd:string) AnnotationAssertion( "MESH:D019522"^^xsd:string) AnnotationAssertion( "NCI:C50795"^^xsd:string) AnnotationAssertion( "vaginal discharges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3767"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal discharge"^^xsd:string) SubClassOf( ) # Class: (pulmonary fibrosis) AnnotationAssertion(Annotation( "https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string) "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009448"^^xsd:string) AnnotationAssertion( "MESH:D011658"^^xsd:string) AnnotationAssertion( "NCI:C26869"^^xsd:string) AnnotationAssertion( "Fibrosing Alveolitis"^^xsd:string) AnnotationAssertion( "fibrosing alveolitides"^^xsd:string) AnnotationAssertion( "fibrosis of lung"^^xsd:string) AnnotationAssertion( "pulmonary fibroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3770"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intraventricular meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5273"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3772"^^xsd:string) AnnotationAssertion(rdfs:label "intraventricular meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (chordoid glioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28315998/"^^xsd:string) Annotation( "https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full"^^xsd:string) "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:3773"^^xsd:string) AnnotationAssertion( "ICDO:9444/1"^^xsd:string) AnnotationAssertion( "NCI:C5592"^^xsd:string) AnnotationAssertion( "ORDO:251674"^^xsd:string) AnnotationAssertion( "chordoid glioma of 3rd ventricle"^^xsd:string) AnnotationAssertion( "chordoid glioma of third ventricle"^^xsd:string) AnnotationAssertion( "third ventricle chordoid glioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3774"^^xsd:string) AnnotationAssertion(rdfs:label "chordoid glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granuloma annulare) AnnotationAssertion(Annotation( "MESH:D016460"^^xsd:string) "Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures."^^xsd:string) AnnotationAssertion( "EFO:1000704"^^xsd:string) AnnotationAssertion( "GARD:6546"^^xsd:string) AnnotationAssertion( "ICD10CM:L92.0"^^xsd:string) AnnotationAssertion( "MESH:D016460"^^xsd:string) AnnotationAssertion( "NCI:C3470"^^xsd:string) AnnotationAssertion( "granulome annulare"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3777"^^xsd:string) AnnotationAssertion(rdfs:label "granuloma annulare"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anovulation) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anovulation"^^xsd:string) "An ovarian disease that is characterized by the absence of ovulation. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000858"^^xsd:string) AnnotationAssertion( "NCI:C34388"^^xsd:string) AnnotationAssertion( "anovulations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3781"^^xsd:string) AnnotationAssertion(rdfs:label "anovulation"^^xsd:string) SubClassOf( ) # Class: (Coffin-Lowry syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance"^^xsd:string) "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:303600"^^xsd:string) AnnotationAssertion( "GARD:6123"^^xsd:string) AnnotationAssertion( "MESH:D038921"^^xsd:string) AnnotationAssertion( "NCI:C84643"^^xsd:string) AnnotationAssertion( "CLS"^^xsd:string) AnnotationAssertion( "Coffin syndrome"^^xsd:string) AnnotationAssertion( "mental retardation with osteocartilaginous abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3783"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin-Lowry syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (external ear disease) AnnotationAssertion(Annotation( "https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm"^^xsd:string) "An auditory system disease that is located_in the external ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009668"^^xsd:string) AnnotationAssertion( "ICD10CM:H61.9"^^xsd:string) AnnotationAssertion( "ICD9CM:380"^^xsd:string) AnnotationAssertion( "NCI:C26972"^^xsd:string) AnnotationAssertion( "preauricular cyst"^^xsd:string) AnnotationAssertion( "preauricular sinus and fistula"^^xsd:string) AnnotationAssertion( "preauricular sinus or fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:379"^^xsd:string) AnnotationAssertion(rdfs:label "external ear disease"^^xsd:string) SubClassOf( ) # Class: (pleural empyema) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleural_empyema"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh"^^xsd:string) "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009680"^^xsd:string) AnnotationAssertion( "ICD10CM:J86"^^xsd:string) AnnotationAssertion( "ICD10CM:J86.9"^^xsd:string) AnnotationAssertion( "MESH:D016724"^^xsd:string) AnnotationAssertion( "NCI:C45692"^^xsd:string) AnnotationAssertion( "Pyothorax"^^xsd:string) AnnotationAssertion( "Thoracic Empyema"^^xsd:string) AnnotationAssertion( "abscess of pleural cavity"^^xsd:string) AnnotationAssertion( "abscess of thorax"^^xsd:string) AnnotationAssertion( "chest empyema"^^xsd:string) AnnotationAssertion( "empyema of pleura"^^xsd:string) AnnotationAssertion( "empyema of pleura without fistula"^^xsd:string) AnnotationAssertion( "empyema with fistula"^^xsd:string) AnnotationAssertion( "empyema with no fistula"^^xsd:string) AnnotationAssertion( "empyema without mention of fistula"^^xsd:string) AnnotationAssertion( "lung empyema"^^xsd:string) AnnotationAssertion( "pleural empyema with fistula"^^xsd:string) AnnotationAssertion( "pleural empyema with no fistula"^^xsd:string) AnnotationAssertion( "pleural empyemas"^^xsd:string) AnnotationAssertion( "purulent pleurisy"^^xsd:string) AnnotationAssertion( "purulent pleuritis"^^xsd:string) AnnotationAssertion( "thoracic empyemas"^^xsd:string) AnnotationAssertion( "thorax abscess"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3798"^^xsd:string) AnnotationAssertion(rdfs:label "pleural empyema"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Crigler-Najjar syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome"^^xsd:string) "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). (DO)"^^xsd:string) AnnotationAssertion( "MIM:218800"^^xsd:string) AnnotationAssertion( "MESH:D003414"^^xsd:string) AnnotationAssertion( "NCI:C84656"^^xsd:string) AnnotationAssertion( "ORDO:205"^^xsd:string) AnnotationAssertion( "Crigler Najar Syndrome"^^xsd:string) AnnotationAssertion( "Crigler Najjar Syndrome, Type 1"^^xsd:string) AnnotationAssertion( "Crigler Najjar Syndrome, Type I"^^xsd:string) AnnotationAssertion( "Familial Nonhemolytic Unconjugated Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "HBLRCN1"^^xsd:string) AnnotationAssertion( "Hereditary Unconjugated Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "bilirubin UDP glucuronyl transferase deficiency"^^xsd:string) AnnotationAssertion( "hyperbilirubinemia, Crigler-Najjar type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3803"^^xsd:string) AnnotationAssertion(rdfs:label "Crigler-Najjar syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (porokeratosis) AnnotationAssertion(Annotation( "MESH:D017499"^^xsd:string) "A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."^^xsd:string) AnnotationAssertion( "EFO:1000757"^^xsd:string) AnnotationAssertion( "GARD:10983"^^xsd:string) AnnotationAssertion( "ICD10CM:L56.5"^^xsd:string) AnnotationAssertion( "ICD9CM:692.75"^^xsd:string) AnnotationAssertion( "MESH:D017499"^^xsd:string) AnnotationAssertion( "MIM:PS175800"^^xsd:string) AnnotationAssertion( "NCI:C85019"^^xsd:string) AnnotationAssertion( "disseminated superficial actinic porokeratosis"^^xsd:string) AnnotationAssertion( "linear porokeratosis"^^xsd:string) AnnotationAssertion( "palmoplantar porokeratosis"^^xsd:string) AnnotationAssertion( "punctate porokeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3805"^^xsd:string) AnnotationAssertion(rdfs:label "porokeratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidural spinal canal meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-11T12:37:40Z"^^xsd:string) AnnotationAssertion( "NCI:C5310"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3809"^^xsd:string) AnnotationAssertion(rdfs:label "epidural spinal canal meningioma"^^xsd:string) SubClassOf( ) # Class: (arthropathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arthropathy"^^xsd:string) "A bone disease that is located_in the joint. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9003266"^^xsd:string) AnnotationAssertion( "EFO:0009477"^^xsd:string) AnnotationAssertion( "EFO:1000999"^^xsd:string) AnnotationAssertion( "ICD10CM:M00-M02"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.9"^^xsd:string) AnnotationAssertion( "ICD9CM:711"^^xsd:string) AnnotationAssertion( "ICD9CM:719.90"^^xsd:string) AnnotationAssertion( "MESH:D007592"^^xsd:string) AnnotationAssertion( "NCI:C35760"^^xsd:string) AnnotationAssertion( "NCI:C78402"^^xsd:string) AnnotationAssertion( "Arthrosis"^^xsd:string) AnnotationAssertion( "Infectious arthropathy"^^xsd:string) AnnotationAssertion( "Joint Disease"^^xsd:string) AnnotationAssertion( "arthropathies"^^xsd:string) AnnotationAssertion( "arthroses"^^xsd:string) AnnotationAssertion( "joint diseases"^^xsd:string) AnnotationAssertion( "ankylosis of ankle and foot joint"^^xsd:string) AnnotationAssertion( "ankylosis of forearm joint"^^xsd:string) AnnotationAssertion( "ankylosis of hand joint"^^xsd:string) AnnotationAssertion( "ankylosis of joint of ankle and/or foot"^^xsd:string) AnnotationAssertion( "ankylosis of joint of forearm"^^xsd:string) AnnotationAssertion( "ankylosis of joint of hand"^^xsd:string) AnnotationAssertion( "ankylosis of joint of lower leg"^^xsd:string) AnnotationAssertion( "ankylosis of joint of multiple sites"^^xsd:string) AnnotationAssertion( "ankylosis of joint of pelvic region and thigh"^^xsd:string) AnnotationAssertion( "ankylosis of joint of shoulder region"^^xsd:string) AnnotationAssertion( "ankylosis of joint of upper arm"^^xsd:string) AnnotationAssertion( "ankylosis of lower leg joint"^^xsd:string) AnnotationAssertion( "ankylosis of multiple joints"^^xsd:string) AnnotationAssertion( "ankylosis of upper arm joint"^^xsd:string) AnnotationAssertion( "joint ankylosis of the ankle and foot"^^xsd:string) AnnotationAssertion( "joint ankylosis of the ankle and/or foot"^^xsd:string) AnnotationAssertion( "joint ankylosis of the forearm"^^xsd:string) AnnotationAssertion( "joint ankylosis of the hand"^^xsd:string) AnnotationAssertion( "joint ankylosis of the lower leg"^^xsd:string) AnnotationAssertion( "joint ankylosis of the pelvic region and thigh"^^xsd:string) AnnotationAssertion( "joint ankylosis of the shoulder region"^^xsd:string) AnnotationAssertion( "joint ankylosis of the upper arm"^^xsd:string) AnnotationAssertion( "vertebral joint disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:381"^^xsd:string) AnnotationAssertion(rdfs:label "arthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system chondroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7001"^^xsd:string) AnnotationAssertion( "chondroma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3813"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system chondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (soft tissue chondroma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/soft-tissue-chondroma"^^xsd:string) "A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000540"^^xsd:string) AnnotationAssertion( "NCI:C9482"^^xsd:string) AnnotationAssertion( "extraskeletal chondroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3814"^^xsd:string) AnnotationAssertion(rdfs:label "soft tissue chondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glossopharyngeal nerve paralysis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27335"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3816"^^xsd:string) AnnotationAssertion(rdfs:label "glossopharyngeal nerve paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cranial nerve palsy) AnnotationAssertion(Annotation( "https://aapos.org/glossary/cranial-nerve-palsy"^^xsd:string) "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009489"^^xsd:string) AnnotationAssertion( "NCI:C26941"^^xsd:string) AnnotationAssertion( "cranial nerve palsies"^^xsd:string) AnnotationAssertion( "cranial nerve paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3817"^^xsd:string) AnnotationAssertion(rdfs:label "cranial nerve palsy"^^xsd:string) SubClassOf( ) # Class: (photoallergic dermatitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Photodermatitis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19834430"^^xsd:string) "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000751"^^xsd:string) AnnotationAssertion( "MESH:D017454"^^xsd:string) AnnotationAssertion( "MONDO:0006596"^^xsd:string) AnnotationAssertion( "Photoallergy"^^xsd:string) AnnotationAssertion( "photoallergic contact dermatitides"^^xsd:string) AnnotationAssertion( "photoallergic contact dermatitis"^^xsd:string) AnnotationAssertion( "photoallergic dermatitides"^^xsd:string) AnnotationAssertion( "photoallergic eczema"^^xsd:string) AnnotationAssertion( "photoallergies"^^xsd:string) AnnotationAssertion( "photocontact dermatitides"^^xsd:string) AnnotationAssertion( "photocontact dermatitis"^^xsd:string) AnnotationAssertion( "photosensitive contact dermatitides"^^xsd:string) AnnotationAssertion( "photosensitive contact dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3818"^^xsd:string) AnnotationAssertion(rdfs:label "photoallergic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (toxicodendron dermatitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16805148"^^xsd:string) "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000773"^^xsd:string) AnnotationAssertion( "MESH:D011040"^^xsd:string) AnnotationAssertion( "Poison Ivy Dermatitis"^^xsd:string) AnnotationAssertion( "Rhus Dermatitides"^^xsd:string) AnnotationAssertion( "Rhus Dermatitis"^^xsd:string) AnnotationAssertion( "contact dermatitis due to genus Toxicodendron"^^xsd:string) AnnotationAssertion( "poison ivy dermatitides"^^xsd:string) AnnotationAssertion( "toxicodendron dermatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3819"^^xsd:string) AnnotationAssertion(rdfs:label "toxicodendron dermatitis"^^xsd:string) SubClassOf( ) # Class: (posterior cerebral artery infarction) AnnotationAssertion(Annotation( "MESH:D020762"^^xsd:string) "NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)."^^xsd:string) AnnotationAssertion( "THROMBOTIC STROKE"^^xsd:string) AnnotationAssertion( "EFO:1001118"^^xsd:string) AnnotationAssertion( "MESH:D020762"^^xsd:string) AnnotationAssertion( "RDO:0007426"^^xsd:string) AnnotationAssertion( "PCA Infarction"^^xsd:string) AnnotationAssertion( "Posterior Cerebral Artery Embolic Infarction"^^xsd:string) AnnotationAssertion( "Posterior Cerebral Artery Stroke"^^xsd:string) AnnotationAssertion( "Posterior Cerebral Artery Syndrome"^^xsd:string) AnnotationAssertion( "Posterior Cerebral Artery Thrombotic Infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3821"^^xsd:string) AnnotationAssertion(rdfs:label "posterior cerebral artery infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shwartzman phenomenon) AnnotationAssertion(Annotation( "MESH:D012790"^^xsd:string) "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (ENDOTOXINS) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous THROMBOSIS and NECROSIS. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of IMMUNE SYSTEM, coagulation, FIBRINOLYSIS, and blood flow."^^xsd:string) AnnotationAssertion( "GARD:7636"^^xsd:string) AnnotationAssertion( "MESH:D012790"^^xsd:string) AnnotationAssertion( "Schwartzman Phenomenon"^^xsd:string) AnnotationAssertion( "Schwartzman Reaction"^^xsd:string) AnnotationAssertion( "Schwartzman reactions"^^xsd:string) AnnotationAssertion( "Shwartzman reaction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3825"^^xsd:string) AnnotationAssertion(rdfs:label "Shwartzman phenomenon"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital diaphragmatic hernia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia"^^xsd:string) "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:142340"^^xsd:string) AnnotationAssertion( "EFO:0007216"^^xsd:string) AnnotationAssertion( "GARD:1481"^^xsd:string) AnnotationAssertion( "ICD10CM:Q79.0"^^xsd:string) AnnotationAssertion( "MESH:D065630"^^xsd:string) AnnotationAssertion( "MIM:PS142340"^^xsd:string) AnnotationAssertion( "NCI:C34687"^^xsd:string) AnnotationAssertion( "NCI:C98893"^^xsd:string) AnnotationAssertion( "ORDO:2140"^^xsd:string) AnnotationAssertion( "Bochdalek hernias"^^xsd:string) AnnotationAssertion( "CDH"^^xsd:string) AnnotationAssertion( "DIH"^^xsd:string) AnnotationAssertion( "HCD"^^xsd:string) AnnotationAssertion( "Morgagni hernias"^^xsd:string) AnnotationAssertion( "Morgagni's hernias"^^xsd:string) AnnotationAssertion( "Morgagnis hernias"^^xsd:string) AnnotationAssertion( "agenesis of hemidiaphragm"^^xsd:string) AnnotationAssertion( "congenital diaphragmatic defect"^^xsd:string) AnnotationAssertion( "congenital diaphragmatic defects"^^xsd:string) AnnotationAssertion( "congenital diaphragmatic hernias"^^xsd:string) AnnotationAssertion( "diaphragm unilateral ageneses"^^xsd:string) AnnotationAssertion( "diaphragm unilateral agenesis"^^xsd:string) AnnotationAssertion( "hemidiaphragm agenesis"^^xsd:string) AnnotationAssertion( "unilateral agenesis of diaphragm"^^xsd:string) AnnotationAssertion( "DIH1"^^xsd:string) AnnotationAssertion( "complete agenesis of diaphragm"^^xsd:string) AnnotationAssertion( "hemidiaphragm, agenesis of diaphragmatic hernia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3827"^^xsd:string) AnnotationAssertion(rdfs:label "congenital diaphragmatic hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chromophobe adenoma) AnnotationAssertion(Annotation( "MESH:D000238"^^xsd:string) "A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes."^^xsd:string) AnnotationAssertion( "EFO:1000867"^^xsd:string) AnnotationAssertion( "ICDO:8270/0"^^xsd:string) AnnotationAssertion( "MESH:D000238"^^xsd:string) AnnotationAssertion( "NCI:C2857"^^xsd:string) AnnotationAssertion( "Chromophobe Adenomas"^^xsd:string) AnnotationAssertion( "chromophobe adenoma of the pituitary gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3828"^^xsd:string) AnnotationAssertion(rdfs:label "chromophobe adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24010395"^^xsd:string) "A pituitary gland benign neoplasm that derives_from glandular epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "pituitary adenoma, multiple types"^^xsd:string) AnnotationAssertion( "EFO:0002619"^^xsd:string) AnnotationAssertion( "EFO:1000478"^^xsd:string) AnnotationAssertion( "ICDO:8272/0"^^xsd:string) AnnotationAssertion( "MIM:PS102200"^^xsd:string) AnnotationAssertion( "NCI:C3329"^^xsd:string) AnnotationAssertion( "ORDO:99408"^^xsd:string) AnnotationAssertion( "Pituitary Gland Adenoma"^^xsd:string) AnnotationAssertion( "adenoma of the pituitary gland"^^xsd:string) AnnotationAssertion( "pituitary adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3829"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wolff-Parkinson-White syndrome) AnnotationAssertion(Annotation( "MESH:D014927"^^xsd:string) "A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."^^xsd:string) AnnotationAssertion( "MIM:194200"^^xsd:string) AnnotationAssertion( "EFO:1001450"^^xsd:string) AnnotationAssertion( "GARD:7897"^^xsd:string) AnnotationAssertion( "ICD9CM:426.7"^^xsd:string) AnnotationAssertion( "MESH:D014927"^^xsd:string) AnnotationAssertion( "NCI:C35132"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:266304003"^^xsd:string) "Anomalous A-V excitation"^^xsd:string) AnnotationAssertion( "Anomalous Ventricular Excitation Syndrome"^^xsd:string) AnnotationAssertion( "Auriculoventricular Accessory Pathway Syndrome"^^xsd:string) AnnotationAssertion( "False Bundle-Branch Block Syndrome"^^xsd:string) AnnotationAssertion( "Ventricular Pre-Excitation with Arrhythmia"^^xsd:string) AnnotationAssertion( "WPW syndrome"^^xsd:string) AnnotationAssertion( "anomalous atrioventricular excitation"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME"^^xsd:string) AnnotationAssertion( "Wolff-Parkinson-White syndrome, childhood-onset"^^xsd:string) AnnotationAssertion( "accessory atrioventricular pathways"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "WOLFF-PARKINSON-WHITE PATTERN"^^xsd:string) AnnotationAssertion( "Wolf Parkinson White syndrome"^^xsd:string) AnnotationAssertion( "DOID:384"^^xsd:string) AnnotationAssertion(rdfs:label "Wolff-Parkinson-White syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (craniopharyngioma) AnnotationAssertion(Annotation( "MESH:D003397"^^xsd:string) "A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)"^^xsd:string) AnnotationAssertion( "EFO:1000209"^^xsd:string) AnnotationAssertion( "GARD:10486"^^xsd:string) AnnotationAssertion( "ICDO:9350/1"^^xsd:string) AnnotationAssertion( "MESH:D003397"^^xsd:string) AnnotationAssertion( "NCI:C2964"^^xsd:string) AnnotationAssertion( "Child Craniopharyngioma"^^xsd:string) AnnotationAssertion( "Child Craniopharyngiomas"^^xsd:string) AnnotationAssertion( "Craniopharyngiomas"^^xsd:string) AnnotationAssertion( "Rathke Cleft Neoplasm"^^xsd:string) AnnotationAssertion( "Rathke Pouch Tumor"^^xsd:string) AnnotationAssertion( "Rathke's Cleft Neoplasm"^^xsd:string) AnnotationAssertion( "Rathke's pouch tumor"^^xsd:string) AnnotationAssertion( "Rathkes Cleft Neoplasm"^^xsd:string) AnnotationAssertion( "Rathkes pouch tumor"^^xsd:string) AnnotationAssertion( "adult craniopharyngioma"^^xsd:string) AnnotationAssertion( "adult craniopharyngiomas"^^xsd:string) AnnotationAssertion( "neoplasm of Rathke's pouch"^^xsd:string) AnnotationAssertion( "Adamantinous Craniopharyngioma"^^xsd:string) AnnotationAssertion( "Adamantinous Craniopharyngiomas"^^xsd:string) AnnotationAssertion( "Papillary Craniopharyngioma"^^xsd:string) AnnotationAssertion( "Papillary Craniopharyngiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3840"^^xsd:string) AnnotationAssertion(rdfs:label "craniopharyngioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skull base cancer) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "NCI:C4676"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3842"^^xsd:string) AnnotationAssertion(rdfs:label "skull base cancer"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (diencephalic neoplasm) AnnotationAssertion( "NCI:C5125"^^xsd:string) AnnotationAssertion( "NCI:C5126"^^xsd:string) AnnotationAssertion( "malignant diencephalic neoplasm"^^xsd:string) AnnotationAssertion( "malignant diencephalic tumor"^^xsd:string) AnnotationAssertion( "tumor of diencephalon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3843"^^xsd:string) AnnotationAssertion(rdfs:label "diencephalic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adamantinous craniopharyngioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000069"^^xsd:string) AnnotationAssertion( "ICDO:9351/1"^^xsd:string) AnnotationAssertion( "NCI:C4726"^^xsd:string) AnnotationAssertion( "adamantinomatous craniopharyngioma"^^xsd:string) AnnotationAssertion( "adamantinous Rathke's pouch tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3846"^^xsd:string) AnnotationAssertion(rdfs:label "adamantinous craniopharyngioma"^^xsd:string) SubClassOf( ) # Class: (papillary craniopharyngioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000447"^^xsd:string) AnnotationAssertion( "ICDO:9352/1"^^xsd:string) AnnotationAssertion( "NCI:C4725"^^xsd:string) AnnotationAssertion( "papillary Rathke's pouch tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3847"^^xsd:string) AnnotationAssertion(rdfs:label "papillary craniopharyngioma"^^xsd:string) SubClassOf( ) # Class: (hemangiopericytic tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000289"^^xsd:string) AnnotationAssertion( "NCI:C7076"^^xsd:string) AnnotationAssertion( "hemangiopericytic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3850"^^xsd:string) AnnotationAssertion(rdfs:label "hemangiopericytic tumor"^^xsd:string) SubClassOf( ) # Class: (Peutz-Jeghers syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/10499464/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/10874301/"^^xsd:string) "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175200"^^xsd:string) AnnotationAssertion( "EFO:1000470"^^xsd:string) AnnotationAssertion( "EFO:1000471"^^xsd:string) AnnotationAssertion( "GARD:7378"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.89"^^xsd:string) AnnotationAssertion( "MESH:D010580"^^xsd:string) AnnotationAssertion( "NCI:C3324"^^xsd:string) AnnotationAssertion( "NCI:C4733"^^xsd:string) AnnotationAssertion( "NCI:C7755"^^xsd:string) AnnotationAssertion( "ORDO:2869"^^xsd:string) AnnotationAssertion( "PJS"^^xsd:string) AnnotationAssertion( "Peutz Jegher's Syndrome"^^xsd:string) AnnotationAssertion( "Peutz Jeghers Polyposis"^^xsd:string) AnnotationAssertion( "Peutz Jeghers polyp"^^xsd:string) AnnotationAssertion( "Peutz-Jegher syndrome"^^xsd:string) AnnotationAssertion( "periorificial lentiginosis syndrome"^^xsd:string) AnnotationAssertion( "periorificial lentiginosis syndromes"^^xsd:string) AnnotationAssertion( "polyps and spots syndrome"^^xsd:string) AnnotationAssertion( "polyps-and-spots syndromes"^^xsd:string) AnnotationAssertion( "Hamartomatous Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "Perioral Lentiginoses"^^xsd:string) AnnotationAssertion( "Perioral Lentiginosis"^^xsd:string) AnnotationAssertion( "Peutz Jeghers colon polyp"^^xsd:string) AnnotationAssertion( "Peutz-Jeghers Polyp of the Stomach"^^xsd:string) AnnotationAssertion( "Peutz-Jeghers polyp of small Intestine"^^xsd:string) AnnotationAssertion( "colonic hamartomatous polyp"^^xsd:string) AnnotationAssertion( "gastric Peutz-Jeghers polyp"^^xsd:string) AnnotationAssertion( "hamartomatous intestinal polyposes"^^xsd:string) AnnotationAssertion( "peutz-jeghers small bowel hamartoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3852"^^xsd:string) AnnotationAssertion(rdfs:label "Peutz-Jeghers syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (seminal vesicle tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39908"^^xsd:string) AnnotationAssertion( "seminal vesicle neoplasm"^^xsd:string) AnnotationAssertion( "seminal vesicle tumour"^^xsd:string) AnnotationAssertion( "tumor of seminal vesicle"^^xsd:string) AnnotationAssertion( "tumour of seminal vesicle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3855"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male reproductive organ cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia"^^xsd:string) Annotation( "http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm"^^xsd:string) "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007355"^^xsd:string) AnnotationAssertion( "ICD10CM:C63.9"^^xsd:string) AnnotationAssertion( "ICD9CM:187.9"^^xsd:string) AnnotationAssertion( "MONDO:0005836"^^xsd:string) AnnotationAssertion( "NCI:C3054"^^xsd:string) AnnotationAssertion( "NCI:C8561"^^xsd:string) AnnotationAssertion( "male genital cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of male genital organ"^^xsd:string) AnnotationAssertion( "malignant neoplasm of male genital organ or tract"^^xsd:string) AnnotationAssertion( "malignant neoplasm of male genital organs"^^xsd:string) AnnotationAssertion( "malignant tumor of male genital organ"^^xsd:string) AnnotationAssertion( "malignant tumor of male reproductive system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3856"^^xsd:string) AnnotationAssertion(rdfs:label "male reproductive organ cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large cell medulloblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Large_cell"^^xsd:string) "A medulloblastoma that is characterized by cells that are larger than would be normally expected. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008508"^^xsd:string) AnnotationAssertion( "ICDO:9474/3"^^xsd:string) AnnotationAssertion( "NCI:C6904"^^xsd:string) AnnotationAssertion( "ORDO:251855"^^xsd:string) AnnotationAssertion( "anaplastic medulloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3857"^^xsd:string) AnnotationAssertion(rdfs:label "large cell medulloblastoma"^^xsd:string) SubClassOf( ) # Class: (cerebellar vermis medulloblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5401"^^xsd:string) AnnotationAssertion( "vermis medulloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3860"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar vermis medulloblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (medullomyoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000368"^^xsd:string) AnnotationAssertion( "ICDO:9472/3"^^xsd:string) AnnotationAssertion( "NCI:C3706"^^xsd:string) AnnotationAssertion( "medullomyoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3861"^^xsd:string) AnnotationAssertion(rdfs:label "medullomyoblastoma"^^xsd:string) SubClassOf( ) # Class: (adult medulloblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4011"^^xsd:string) AnnotationAssertion( "NCI:C9373"^^xsd:string) AnnotationAssertion( "adult brain medulloblastoma"^^xsd:string) AnnotationAssertion( "adult medulloblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3864"^^xsd:string) AnnotationAssertion(rdfs:label "adult medulloblastoma"^^xsd:string) SubClassOf( ) # Class: (adult central nervous system embryonal tumor) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33477185/"^^xsd:string) "A central nervous system embryonal tumor that occurs in adults. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5411"^^xsd:string) AnnotationAssertion( "adult CNS PNET"^^xsd:string) AnnotationAssertion( "adult central nervous system primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3865"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system embryonal tumor"^^xsd:string) SubClassOf( ) # Class: (melanotic medulloblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3868"^^xsd:string) AnnotationAssertion(rdfs:label "melanotic medulloblastoma"^^xsd:string) SubClassOf( ) # Class: (childhood medulloblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9470/3"^^xsd:string) AnnotationAssertion( "NCI:C3997"^^xsd:string) AnnotationAssertion( "childhood medulloblastomas"^^xsd:string) AnnotationAssertion( "pediatric medulloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3869"^^xsd:string) AnnotationAssertion(rdfs:label "childhood medulloblastoma"^^xsd:string) SubClassOf( ) # Class: (childhood central nervous system embryonal tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/"^^xsd:string) "A central nervous system embryonal tumor that occurs in childhood. (DO)"^^xsd:string) AnnotationAssertion( "ICD-O:M9473/3"^^xsd:string) AnnotationAssertion( "NCI:C5961"^^xsd:string) AnnotationAssertion( "childhood central nervous system primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "pediatric CNS PNET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3870"^^xsd:string) AnnotationAssertion(rdfs:label "childhood central nervous system embryonal tumor"^^xsd:string) SubClassOf( ) # Class: (desmoplastic/nodular medulloblastoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32304218/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/"^^xsd:string) "A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4956"^^xsd:string) AnnotationAssertion( "NCI:C5407"^^xsd:string) AnnotationAssertion( "nodular medulloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3873"^^xsd:string) AnnotationAssertion(rdfs:label "desmoplastic/nodular medulloblastoma"^^xsd:string) SubClassOf( ) # Class: (thrombophlebitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thrombophlebitis"^^xsd:string) Annotation( "http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm"^^xsd:string) "A phlebitis that results from a blood clot in the vessel. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003887"^^xsd:string) AnnotationAssertion( "ICD10CM:I80.0"^^xsd:string) AnnotationAssertion( "ICD9CM:451.0"^^xsd:string) AnnotationAssertion( "MESH:D013924"^^xsd:string) AnnotationAssertion( "NCI:C3410"^^xsd:string) AnnotationAssertion( "Phlegmasia Alba Dolens"^^xsd:string) AnnotationAssertion( "Superficial thrombophlebitis of leg"^^xsd:string) AnnotationAssertion( "Thrombophlebitides"^^xsd:string) AnnotationAssertion( "phlebitis and thrombophlebitis of superficial vessels of lower extremities"^^xsd:string) AnnotationAssertion( "thrombophlebitis of a superficial leg vein"^^xsd:string) AnnotationAssertion( "thrombophlebitis of superficial veins of lower extremity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3875"^^xsd:string) AnnotationAssertion(rdfs:label "thrombophlebitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colonic pseudo-obstruction) AnnotationAssertion(Annotation( "MESH:D003112"^^xsd:string) "Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome."^^xsd:string) AnnotationAssertion( "EFO:1000871"^^xsd:string) AnnotationAssertion( "MESH:D003112"^^xsd:string) AnnotationAssertion( "RDO:0005241"^^xsd:string) AnnotationAssertion( "Colonic Pseudoobstruction"^^xsd:string) AnnotationAssertion( "Ogilvie Disease"^^xsd:string) AnnotationAssertion( "Ogilvie Syndrome"^^xsd:string) AnnotationAssertion( "Ogilvie's Syndrome"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:35065006"^^xsd:string) "primary chronic pseudo-obstruction of colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3876"^^xsd:string) AnnotationAssertion(rdfs:label "colonic pseudo-obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (functional colonic disease) AnnotationAssertion(Annotation( "MESH:D003109"^^xsd:string) "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category."^^xsd:string) AnnotationAssertion( "MESH:D003109"^^xsd:string) AnnotationAssertion( "RDO:0005237"^^xsd:string) AnnotationAssertion( "functional colonic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3877"^^xsd:string) AnnotationAssertion(rdfs:label "functional colonic disease"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lynch syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/lynch-syndrome"^^xsd:string) "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007354"^^xsd:string) AnnotationAssertion( "EFO:0009911"^^xsd:string) AnnotationAssertion( "GARD:9905"^^xsd:string) AnnotationAssertion( "MESH:D003123"^^xsd:string) AnnotationAssertion( "MIM:PS120435"^^xsd:string) AnnotationAssertion( "MONDO:0005835"^^xsd:string) AnnotationAssertion( "NCI:C120083"^^xsd:string) AnnotationAssertion( "NCI:C8494"^^xsd:string) AnnotationAssertion( "ORDO:144"^^xsd:string) AnnotationAssertion( "APC-mutation negative familial colorectal cancer"^^xsd:string) AnnotationAssertion( "HNPCC - hereditary nonpolyposis colon cancer"^^xsd:string) AnnotationAssertion( "Hereditary non-polyposis colon cancer"^^xsd:string) AnnotationAssertion( "Hereditary non-polyposis colon cancer syndrome"^^xsd:string) AnnotationAssertion( "Hereditary non-polyposis colorectal cancer"^^xsd:string) AnnotationAssertion( "Hereditary non-polyposis colorectal cancer syndrome"^^xsd:string) AnnotationAssertion( "Hereditary nonpolyposis colon cancer syndrome"^^xsd:string) AnnotationAssertion( "INHERITED MMR DEFICIENCY (LYNCH SYNDROME)"^^xsd:string) AnnotationAssertion( "familial nonpolyposis colon cancer"^^xsd:string) AnnotationAssertion( "hereditary defective mismatch repair syndrome"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colon cancer"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal cancer"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal cancer syndrome"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal carcinoma"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal neoplasm"^^xsd:string) AnnotationAssertion( "hereditary nonpolyposis colorectal neoplasms"^^xsd:string) AnnotationAssertion( "non-polyposis colorectal cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3883"^^xsd:string) AnnotationAssertion(rdfs:label "Lynch syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute intermittent porphyria) AnnotationAssertion(Annotation( "MESH:D017118"^^xsd:string) "An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine."^^xsd:string) AnnotationAssertion( "MIM:176000"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE HEME BIOSYNTHETIC PATHWAY"^^xsd:string) AnnotationAssertion( "GARD:5732"^^xsd:string) AnnotationAssertion( "MESH:D017118"^^xsd:string) AnnotationAssertion( "NCI:C84536"^^xsd:string) AnnotationAssertion( "ORDO:79276"^^xsd:string) AnnotationAssertion( "AIP"^^xsd:string) AnnotationAssertion( "AIP - acute intermittent porphyria"^^xsd:string) AnnotationAssertion( "HMBS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Hydroxymethylbilane Synthase Deficiency"^^xsd:string) AnnotationAssertion( "PBGD Deficiency"^^xsd:string) AnnotationAssertion( "PBGD deficiencies"^^xsd:string) AnnotationAssertion( "Porphobilinogen Deaminase Deficiency"^^xsd:string) AnnotationAssertion( "Swedish Type Porphyria"^^xsd:string) AnnotationAssertion( "Swedish type porphyrias"^^xsd:string) AnnotationAssertion( "UPS deficiencies"^^xsd:string) AnnotationAssertion( "UPS deficiency"^^xsd:string) AnnotationAssertion( "acute intermittent porphyrias"^^xsd:string) AnnotationAssertion( "hydroxymethylbilane synthase deficiencies"^^xsd:string) AnnotationAssertion( "porphobilinogen deaminase deficiencies"^^xsd:string) AnnotationAssertion( "pyrroloporphyria"^^xsd:string) AnnotationAssertion( "uroporphyrinogen synthase deficiencies"^^xsd:string) AnnotationAssertion( "uroporphyrinogen synthase deficiency"^^xsd:string) AnnotationAssertion( "PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PORC"^^xsd:string) AnnotationAssertion( "PORPHYRIA, CHESTER TYPE"^^xsd:string) AnnotationAssertion( "DOID:3890"^^xsd:string) AnnotationAssertion(rdfs:label "acute intermittent porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (placental insufficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Placental_insufficiency"^^xsd:string) "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007443"^^xsd:string) AnnotationAssertion( "MESH:D010927"^^xsd:string) AnnotationAssertion( "placental dysfunction"^^xsd:string) AnnotationAssertion( "uteroplacental insufficiency"^^xsd:string) AnnotationAssertion( "uteroplacental vascular insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3891"^^xsd:string) AnnotationAssertion(rdfs:label "placental insufficiency"^^xsd:string) SubClassOf( ) # Class: (insulinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Insulinoma"^^xsd:string) "A pancreatic cystadenoma that is characterized by the overproduction of insulin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606960"^^xsd:string) AnnotationAssertion( "EFO:0000549"^^xsd:string) AnnotationAssertion( "GARD:3010"^^xsd:string) AnnotationAssertion( "ICDO:8151/3"^^xsd:string) AnnotationAssertion( "MESH:D007340"^^xsd:string) AnnotationAssertion( "NCI:C121566"^^xsd:string) AnnotationAssertion( "NCI:C3140"^^xsd:string) AnnotationAssertion( "NCI:C34053"^^xsd:string) AnnotationAssertion( "NCI:C65184"^^xsd:string) AnnotationAssertion( "NCI:C95598"^^xsd:string) AnnotationAssertion( "ORDO:97279"^^xsd:string) AnnotationAssertion( "Insulinomas"^^xsd:string) AnnotationAssertion( "beta Cell Tumor"^^xsd:string) AnnotationAssertion( "beta-Cell Adenoma"^^xsd:string) AnnotationAssertion( "beta-cell adenomas"^^xsd:string) AnnotationAssertion( "beta-cell tumors"^^xsd:string) AnnotationAssertion( "insulin-producing tumor of islet cells"^^xsd:string) AnnotationAssertion( "insulinoma tumor suppressor gene locus"^^xsd:string) AnnotationAssertion( "insuloma"^^xsd:string) AnnotationAssertion( "insulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3892"^^xsd:string) AnnotationAssertion(rdfs:label "insulinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hidrocystoma) AnnotationAssertion(Annotation( "MESH:D018251"^^xsd:string) "A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)"^^xsd:string) AnnotationAssertion( "EFO:1000967"^^xsd:string) AnnotationAssertion( "ICDO:8404/0"^^xsd:string) AnnotationAssertion( "MESH:D018251"^^xsd:string) AnnotationAssertion( "NCI:C3760"^^xsd:string) AnnotationAssertion( "Apocrine cystadenoma"^^xsd:string) AnnotationAssertion( "Hidrocystomas"^^xsd:string) AnnotationAssertion( "eccrine cystadenoma"^^xsd:string) AnnotationAssertion( "eccrine hidrocystoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3893"^^xsd:string) AnnotationAssertion(rdfs:label "hidrocystoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (apocrine adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8401/0"^^xsd:string) AnnotationAssertion( "NCI:C27527"^^xsd:string) AnnotationAssertion( "NCI:C4168"^^xsd:string) AnnotationAssertion( "tubular apocrine adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3895"^^xsd:string) AnnotationAssertion(rdfs:label "apocrine adenoma"^^xsd:string) SubClassOf( ) # Class: (hidradenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hidradenoma"^^xsd:string) "A sweat gland benign neoplasm that is located_in an apical sweat gland. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8402/0"^^xsd:string) AnnotationAssertion( "MESH:D006607"^^xsd:string) AnnotationAssertion( "MONDO:0002805"^^xsd:string) AnnotationAssertion( "NCI:C7560"^^xsd:string) AnnotationAssertion( "NCI:C7563"^^xsd:string) AnnotationAssertion( "hidradenoma of skin"^^xsd:string) AnnotationAssertion( "hidradenomas"^^xsd:string) AnnotationAssertion( "sweat gland adenoma"^^xsd:string) AnnotationAssertion( "syringadenoma"^^xsd:string) AnnotationAssertion( "syringoadenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3896"^^xsd:string) AnnotationAssertion(rdfs:label "hidradenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Vulvitis"^^xsd:string) "A vulvar disease that is characterized by inflammation of the vulva. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001239"^^xsd:string) AnnotationAssertion( "ICD10CM:N76.2"^^xsd:string) AnnotationAssertion( "MESH:D014847"^^xsd:string) AnnotationAssertion( "vulvitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3901"^^xsd:string) AnnotationAssertion(rdfs:label "vulvitis"^^xsd:string) SubClassOf( ) # Class: (bronchus carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A bronchus cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001942"^^xsd:string) AnnotationAssertion( "MESH:D002283"^^xsd:string) AnnotationAssertion( "NCI:C35875"^^xsd:string) AnnotationAssertion( "BC - bronchogenic carcinoma"^^xsd:string) AnnotationAssertion( "Bronchial Carcinoma"^^xsd:string) AnnotationAssertion( "Bronchogenic Carcinoma"^^xsd:string) AnnotationAssertion( "bronchial carcinomas"^^xsd:string) AnnotationAssertion( "bronchogenic carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3904"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung carcinoma) AnnotationAssertion(Annotation( "https://merck.com/mmpe/sec05/ch062/ch062b.html"^^xsd:string) "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0001071"^^xsd:string) AnnotationAssertion( "EFO:1000331"^^xsd:string) AnnotationAssertion( "MONDO:0005138"^^xsd:string) AnnotationAssertion( "NCI:C4878"^^xsd:string) AnnotationAssertion( "carcinoma of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3905"^^xsd:string) AnnotationAssertion(rdfs:label "lung carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchial benign neoplasm) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3906"^^xsd:string) AnnotationAssertion(rdfs:label "bronchial benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung squamous cell carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/lungsquamouscell"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=46595"^^xsd:string) "A non-small cell lung carcinoma that has_material_basis_in the squamous cell. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000708"^^xsd:string) AnnotationAssertion( "NCI:C3493"^^xsd:string) AnnotationAssertion( "RDO:9001311"^^xsd:string) AnnotationAssertion( "Epidermoid carcinoma of lung"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3493"^^xsd:string) "Epidermoid cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "SCC - Squamous cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "Squamous Cell Carcinoma of the Lung"^^xsd:string) AnnotationAssertion( "Squamous cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3907"^^xsd:string) AnnotationAssertion(rdfs:label "lung squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung non-small cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma"^^xsd:string) "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9000424"^^xsd:string) AnnotationAssertion( "EFO:0003060"^^xsd:string) AnnotationAssertion( "MESH:D002289"^^xsd:string) AnnotationAssertion( "MIM:603040"^^xsd:string) AnnotationAssertion( "NCI:C2926"^^xsd:string) AnnotationAssertion( "RDO:0008878"^^xsd:string) AnnotationAssertion( "NSCLC"^^xsd:string) AnnotationAssertion( "non-small cell lung cancer"^^xsd:string) AnnotationAssertion( "non-small-cell lung carcinomas"^^xsd:string) AnnotationAssertion( "nonsmall cell lung cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NONSMALL CELL LUNG CANCER SUPPRESSOR"^^xsd:string) AnnotationAssertion( "nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in"^^xsd:string) AnnotationAssertion( "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic"^^xsd:string) AnnotationAssertion( "DOID:3908"^^xsd:string) AnnotationAssertion(rdfs:label "lung non-small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung adenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung"^^xsd:string) "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000571"^^xsd:string) AnnotationAssertion( "EFO:0005288"^^xsd:string) AnnotationAssertion( "GARD:5742"^^xsd:string) AnnotationAssertion( "MESH:D000077192"^^xsd:string) AnnotationAssertion( "NCI:C129299"^^xsd:string) AnnotationAssertion( "NCI:C27745"^^xsd:string) AnnotationAssertion( "NCI:C3512"^^xsd:string) AnnotationAssertion( "LUAD"^^xsd:string) AnnotationAssertion( "adenocarcinoma of lung"^^xsd:string) AnnotationAssertion( "bronchogenic lung adenocarcinoma"^^xsd:string) AnnotationAssertion( "non-small cell lung adenocarcinoma"^^xsd:string) AnnotationAssertion( "nonsmall cell adenocarcinoma"^^xsd:string) AnnotationAssertion( "pulmonary adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of lung, somatic"^^xsd:string) AnnotationAssertion( "DOID:3910"^^xsd:string) AnnotationAssertion(rdfs:label "lung adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progeria) AnnotationAssertion(Annotation( "https://www.genome.gov/Genetic-Disorders/Progeria"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12714972"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16838330"^^xsd:string) "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:176670"^^xsd:string) AnnotationAssertion( "EFO:0000671"^^xsd:string) AnnotationAssertion( "GARD:7467"^^xsd:string) AnnotationAssertion( "ICD10CM:E34.8"^^xsd:string) AnnotationAssertion( "MESH:D011371"^^xsd:string) AnnotationAssertion( "MONDO:0020732"^^xsd:string) AnnotationAssertion( "NCI:C34951"^^xsd:string) AnnotationAssertion( "ORDO:740"^^xsd:string) AnnotationAssertion( "HGPS"^^xsd:string) AnnotationAssertion( "Hutchinson Gilford Progeria Syndrome"^^xsd:string) AnnotationAssertion( "Hutchinson Gilford Syndrome"^^xsd:string) AnnotationAssertion( "Hutchinson-Gilford Progeria Syndrome, Atypical"^^xsd:string) AnnotationAssertion( "Hutchinson-Gilford Progeria Syndromes"^^xsd:string) AnnotationAssertion( "Hutchinson-Gilford disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3911"^^xsd:string) AnnotationAssertion(rdfs:label "progeria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic serous cystadenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5712"^^xsd:string) AnnotationAssertion( "RDO:9004095"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3917"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic serous cystadenoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic cystadenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4374"^^xsd:string) AnnotationAssertion( "RDO:9004094"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3918"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic serous cystic neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41248"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3919"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic serous cystic neoplasm"^^xsd:string) SubClassOf( ) # Class: (diffuse lipomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000687"^^xsd:string) AnnotationAssertion( "NCI:C6504"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3923"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse lipomatosis"^^xsd:string) SubClassOf( ) # Class: (main bronchus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C34.0"^^xsd:string) AnnotationAssertion( "ICD9CM:162.2"^^xsd:string) AnnotationAssertion( "RDO:9001994"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:154487009"^^xsd:string) "Ca main bronchus"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:162.2"^^xsd:string) "malignant neoplasm of main bronchus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3924"^^xsd:string) AnnotationAssertion(rdfs:label "main bronchus cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (steroid lipomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000769"^^xsd:string) AnnotationAssertion( "NCI:C27487"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3925"^^xsd:string) AnnotationAssertion(rdfs:label "steroid lipomatosis"^^xsd:string) SubClassOf( ) # Class: (mediastinal lipomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000732"^^xsd:string) AnnotationAssertion( "NCI:C27488"^^xsd:string) AnnotationAssertion( "RDO:9004118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3926"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal lipomatosis"^^xsd:string) SubClassOf( ) # Class: (pelvic lipomatosis) AnnotationAssertion( "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. (NCI)"^^xsd:string) AnnotationAssertion( "EFO:1000748"^^xsd:string) AnnotationAssertion( "GARD:7350"^^xsd:string) AnnotationAssertion( "MESH:C535549"^^xsd:string) AnnotationAssertion( "MONDO:0006593"^^xsd:string) AnnotationAssertion( "NCI:C27486"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3927"^^xsd:string) AnnotationAssertion(rdfs:label "pelvic lipomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adiposis dolorosa) AnnotationAssertion(Annotation( "MESH:D000274"^^xsd:string) "A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands."^^xsd:string) AnnotationAssertion( "MIM:103200"^^xsd:string) AnnotationAssertion( "EFO:1000667"^^xsd:string) AnnotationAssertion( "GARD:5750"^^xsd:string) AnnotationAssertion( "ICD10CM:E88.2"^^xsd:string) AnnotationAssertion( "MESH:D000274"^^xsd:string) AnnotationAssertion( "MONDO:0007070"^^xsd:string) AnnotationAssertion( "NCI:C84540"^^xsd:string) AnnotationAssertion( "Adipose Tissue Rheumatism"^^xsd:string) AnnotationAssertion( "Ander Syndrome"^^xsd:string) AnnotationAssertion( "Ander's Syndrome"^^xsd:string) AnnotationAssertion( "Anders Syndrome"^^xsd:string) AnnotationAssertion( "Anders syndromes"^^xsd:string) AnnotationAssertion( "Decum Vitaut Syndrome"^^xsd:string) AnnotationAssertion( "Dercum Disease"^^xsd:string) AnnotationAssertion( "Dercum's Disease"^^xsd:string) AnnotationAssertion( "Dercum-Vitaut syndrome"^^xsd:string) AnnotationAssertion( "Dercums disease"^^xsd:string) AnnotationAssertion( "adiposalgia"^^xsd:string) AnnotationAssertion( "adiposalgias"^^xsd:string) AnnotationAssertion( "lipomatosis dolorosa"^^xsd:string) AnnotationAssertion( "morbus dercum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3928"^^xsd:string) AnnotationAssertion(rdfs:label "adiposis dolorosa"^^xsd:string) SubClassOf( ) # Class: (otitis interna) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna"^^xsd:string) "An inner ear disease which involves inflammation of the inner ear. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27339"^^xsd:string) AnnotationAssertion( "inner ear infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3930"^^xsd:string) AnnotationAssertion(rdfs:label "otitis interna"^^xsd:string) SubClassOf( ) # Class: (anterior compartment syndrome) AnnotationAssertion(Annotation( "MESH:D000868"^^xsd:string) "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION."^^xsd:string) AnnotationAssertion( "EFO:1000808"^^xsd:string) AnnotationAssertion( "ICD10CM:M76.81"^^xsd:string) AnnotationAssertion( "MESH:D000868"^^xsd:string) AnnotationAssertion( "Anterior Tibial Syndrome"^^xsd:string) AnnotationAssertion( "anterior compartment syndromes"^^xsd:string) AnnotationAssertion( "anterior tibial syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3933"^^xsd:string) AnnotationAssertion(rdfs:label "anterior compartment syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Arenaviridae infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arenaviridae"^^xsd:string) "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007150"^^xsd:string) AnnotationAssertion( "MESH:D001117"^^xsd:string) AnnotationAssertion( "Arenaviridae Infection"^^xsd:string) AnnotationAssertion( "Arenavirus Infection"^^xsd:string) AnnotationAssertion( "arenaviridae infections"^^xsd:string) AnnotationAssertion( "arenavirus infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3944"^^xsd:string) AnnotationAssertion(rdfs:label "Arenaviridae infectious disease"^^xsd:string) SubClassOf( ) # Class: (pituitary-dependent Cushing's disease) AnnotationAssertion(Annotation( "MESH:D047748"^^xsd:string) "A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME."^^xsd:string) AnnotationAssertion( "RDO:0000271"^^xsd:string) AnnotationAssertion( "EFO:1001110"^^xsd:string) AnnotationAssertion( "ICD10CM:E24.0"^^xsd:string) AnnotationAssertion( "MESH:D047748"^^xsd:string) AnnotationAssertion( "NCI:C113210"^^xsd:string) AnnotationAssertion( "Cushing disease"^^xsd:string) AnnotationAssertion( "Inappropriate Adrenocorticotropic Hormone Secretion"^^xsd:string) AnnotationAssertion( "Pituitary ACTH Hypersecretion"^^xsd:string) AnnotationAssertion( "Pituitary Cushing Disease"^^xsd:string) AnnotationAssertion( "Pituitary Cushing Diseases"^^xsd:string) AnnotationAssertion( "Pituitary Cushing Syndrome"^^xsd:string) AnnotationAssertion( "Pituitary Dependent Hypercortisolism"^^xsd:string) AnnotationAssertion( "inappropriate ACTH secretion syndrome"^^xsd:string) AnnotationAssertion( "overproduction of ACTH"^^xsd:string) AnnotationAssertion( "pituitary dependent hypercortisolism disorder"^^xsd:string) AnnotationAssertion( "pituitary-dependent Cushing disease"^^xsd:string) AnnotationAssertion( "pituitary-dependent hypercortisolism disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3946"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary-dependent Cushing's disease"^^xsd:string) SubClassOf( ) # Class: (adrenal gland hyperfunction) AnnotationAssertion(Annotation( "MESH:D000308"^^xsd:string) "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM."^^xsd:string) AnnotationAssertion( "EFO:1000797"^^xsd:string) AnnotationAssertion( "MESH:D000308"^^xsd:string) AnnotationAssertion( "NCI:C113208"^^xsd:string) AnnotationAssertion( "Hyperadrenalism"^^xsd:string) AnnotationAssertion( "Hyperadrenocorticism"^^xsd:string) AnnotationAssertion( "adrenocortical hyperfunction"^^xsd:string) AnnotationAssertion( "hypercorticism"^^xsd:string) AnnotationAssertion( "hypercortisolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3947"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland hyperfunction"^^xsd:string) SubClassOf( ) # Class: (adrenocortical carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/adrenocortical"^^xsd:string) "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003093"^^xsd:string) AnnotationAssertion( "EFO:1000796"^^xsd:string) AnnotationAssertion( "GARD:558"^^xsd:string) AnnotationAssertion( "MESH:D018268"^^xsd:string) AnnotationAssertion( "NCI:C22992"^^xsd:string) AnnotationAssertion( "NCI:C9325"^^xsd:string) AnnotationAssertion( "adrenal cortex carcinoma"^^xsd:string) AnnotationAssertion( "adrenal cortical carcinoma"^^xsd:string) AnnotationAssertion( "adrenal cortical carcinomas"^^xsd:string) AnnotationAssertion( "adrenocortical carcinomas"^^xsd:string) AnnotationAssertion( "carcinoma of the adrenal cortex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3948"^^xsd:string) AnnotationAssertion(rdfs:label "adrenocortical carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenocortical_carcinoma"^^xsd:string) "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "carcinoma of the adrenal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3950"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute myocarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I40"^^xsd:string) AnnotationAssertion( "ICD9CM:422"^^xsd:string) AnnotationAssertion( "NCI:C35206"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3951"^^xsd:string) AnnotationAssertion(rdfs:label "acute myocarditis"^^xsd:string) SubClassOf( ) # Class: (adrenal cortex disease) AnnotationAssertion(Annotation( "MESH:D000303"^^xsd:string) Annotation( "https://accessmedicine.mhmedical.com/content.aspx?bookid=961§ionid=53555702"^^xsd:string) "An adrenal gland disease that is located_in the adrenal cortex. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000303"^^xsd:string) AnnotationAssertion( "adrenal cortex diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3952"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortex disease"^^xsd:string) SubClassOf( ) # Class: (adrenal gland cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_gland"^^xsd:string) "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5751"^^xsd:string) AnnotationAssertion( "ICD10CM:C74"^^xsd:string) AnnotationAssertion( "ICD9CM:194.0"^^xsd:string) AnnotationAssertion( "NCI:C2859"^^xsd:string) AnnotationAssertion( "NCI:C9338"^^xsd:string) AnnotationAssertion( "adrenal cancer"^^xsd:string) AnnotationAssertion( "adrenal cancers"^^xsd:string) AnnotationAssertion( "adrenal gland cancers"^^xsd:string) AnnotationAssertion( "cancer of the adrenal gland"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9338"^^xsd:string) "malignant adrenal tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of adrenal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3953"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal cortical adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenocortical_carcinoma"^^xsd:string) "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "adrenal cortex adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3959"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortical adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Loeffler endocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis"^^xsd:string) "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.3"^^xsd:string) AnnotationAssertion( "NCI:C27044"^^xsd:string) AnnotationAssertion( "eosinophilic endomyocardial disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:396"^^xsd:string) AnnotationAssertion(rdfs:label "Loeffler endocarditis"^^xsd:string) SubClassOf( ) # Class: (follicular thyroid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Follicular_thyroid_cancer"^^xsd:string) "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000501"^^xsd:string) AnnotationAssertion( "EFO:1002016"^^xsd:string) AnnotationAssertion( "ICD11:2D10.0"^^xsd:string) AnnotationAssertion( "ICDO:8330/3"^^xsd:string) AnnotationAssertion( "MESH:D018263"^^xsd:string) AnnotationAssertion( "MONDO:0005034"^^xsd:string) AnnotationAssertion( "NCI:C132275"^^xsd:string) AnnotationAssertion( "NCI:C8054"^^xsd:string) AnnotationAssertion( "follicular adenocarcinoma"^^xsd:string) AnnotationAssertion( "follicular adenocarcinoma, well differentiated"^^xsd:string) AnnotationAssertion( "follicular adenocarcinomas"^^xsd:string) AnnotationAssertion( "follicular carcinoma"^^xsd:string) AnnotationAssertion( "follicular carcinoma of the thyroid gland"^^xsd:string) AnnotationAssertion( "follicular thyroid carcinomas"^^xsd:string) AnnotationAssertion( "thyroid adenocarcinoma"^^xsd:string) AnnotationAssertion( "thyroid gland follicular carcinoma"^^xsd:string) AnnotationAssertion( "poorly differentiated follicular thyroid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3962"^^xsd:string) AnnotationAssertion(rdfs:label "follicular thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A thyroid gland cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002892"^^xsd:string) AnnotationAssertion( "EFO:1000586"^^xsd:string) AnnotationAssertion( "EFO:1000594"^^xsd:string) AnnotationAssertion( "NCI:C4815"^^xsd:string) AnnotationAssertion( "thyroid carcinoma"^^xsd:string) AnnotationAssertion( "thyroid carcinomas"^^xsd:string) AnnotationAssertion( "thyroid head and neck cancer"^^xsd:string) AnnotationAssertion( "Thyroid Gland Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3963"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trabecular follicular adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C46095"^^xsd:string) AnnotationAssertion( "trabecular follicular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3964"^^xsd:string) AnnotationAssertion(rdfs:label "trabecular follicular adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Merkel cell carcinoma) AnnotationAssertion(Annotation( "MESH:D015266"^^xsd:string) "A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)"^^xsd:string) AnnotationAssertion( "EFO:1001471"^^xsd:string) AnnotationAssertion( "GARD:9266"^^xsd:string) AnnotationAssertion( "ICDO:8247/3"^^xsd:string) AnnotationAssertion( "MESH:D015266"^^xsd:string) AnnotationAssertion( "NCI:C4068"^^xsd:string) AnnotationAssertion( "NCI:C9231"^^xsd:string) AnnotationAssertion( "Merkel Cell Cancer"^^xsd:string) AnnotationAssertion( "Merkel Cell Tumor"^^xsd:string) AnnotationAssertion( "Merkle Tumors"^^xsd:string) AnnotationAssertion( "trabecular adenocarcinoma"^^xsd:string) AnnotationAssertion( "trabecular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3965"^^xsd:string) AnnotationAssertion(rdfs:label "Merkel cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (papillary thyroid carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/thyroid"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Papillary_thyroid_cancer"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21455196"^^xsd:string) "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000641"^^xsd:string) AnnotationAssertion( "GARD:12027"^^xsd:string) AnnotationAssertion( "ICD11:2D10.1"^^xsd:string) AnnotationAssertion( "MESH:D000077273"^^xsd:string) AnnotationAssertion( "MIM:PS188550"^^xsd:string) AnnotationAssertion( "MONDO:0005075"^^xsd:string) AnnotationAssertion( "NCI:C4035"^^xsd:string) AnnotationAssertion( "NONMEDULLARY THYROID CARCINOMA, PAPILLARY"^^xsd:string) AnnotationAssertion( "PACT"^^xsd:string) AnnotationAssertion( "PTC"^^xsd:string) AnnotationAssertion( "TPC"^^xsd:string) AnnotationAssertion( "familial nonmedullary thyroid cancer"^^xsd:string) AnnotationAssertion( "nonmedullary thyroid carcinoma"^^xsd:string) AnnotationAssertion( "papillary carcinoma of the thyroid gland"^^xsd:string) AnnotationAssertion( "papillary carcinoma of thyroid"^^xsd:string) AnnotationAssertion( "papillary familial nonmedullary thyroid cancer"^^xsd:string) AnnotationAssertion( "papillary thyroid cancer"^^xsd:string) AnnotationAssertion( "thyroid gland papillary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3969"^^xsd:string) AnnotationAssertion(rdfs:label "papillary thyroid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (restrictive cardiomyopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8995091"^^xsd:string) "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002630"^^xsd:string) AnnotationAssertion( "EFO:1001473"^^xsd:string) AnnotationAssertion( "ICD10CM:I42.5"^^xsd:string) AnnotationAssertion( "MESH:D002313"^^xsd:string) AnnotationAssertion( "MIM:PS115210"^^xsd:string) AnnotationAssertion( "NCI:C62798"^^xsd:string) AnnotationAssertion( "ORDO:217632"^^xsd:string) AnnotationAssertion( "ORDO:75249"^^xsd:string) AnnotationAssertion( "constrictive cardiomyopathy"^^xsd:string) AnnotationAssertion( "primary restrictive cardiomyopathy"^^xsd:string) AnnotationAssertion( "restrictive cardiomyopathies"^^xsd:string) AnnotationAssertion( "Non-familial restrictive cardiomyopathy"^^xsd:string) AnnotationAssertion( "familial restrictive cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:397"^^xsd:string) AnnotationAssertion(rdfs:label "restrictive cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (medullary thyroid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Medullary_thyroid_cancer"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK459354/"^^xsd:string) "A thyroid gland carcinoma that has_material_basis_in parafollicular cells. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8345/3"^^xsd:string) AnnotationAssertion( "MESH:C536914"^^xsd:string) AnnotationAssertion( "MONDO:0015277"^^xsd:string) AnnotationAssertion( "NCI:C161006"^^xsd:string) AnnotationAssertion( "NCI:C24170"^^xsd:string) AnnotationAssertion( "NCI:C3879"^^xsd:string) AnnotationAssertion( "Parafollicular cell carcinoma"^^xsd:string) AnnotationAssertion( "medullary carcinoma of the thyroid gland"^^xsd:string) AnnotationAssertion( "medullary thyroid cancer (MTC)"^^xsd:string) AnnotationAssertion( "thyroid gland medullary carcinoma"^^xsd:string) AnnotationAssertion( "thyroid medullary cancer"^^xsd:string) AnnotationAssertion( "thyroid medullary carcinoma"^^xsd:string) AnnotationAssertion( "ultimobranchial thyroid tumor"^^xsd:string) AnnotationAssertion( "ultimobranchial thyroid tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3973"^^xsd:string) AnnotationAssertion(rdfs:label "medullary thyroid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrinsic cardiomyopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cardiomyopathy"^^xsd:string) "A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:425.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3978"^^xsd:string) AnnotationAssertion(rdfs:label "extrinsic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (pantothenate kinase-associated neurodegeneration) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration"^^xsd:string) "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9004936"^^xsd:string) AnnotationAssertion( "MIM:234200"^^xsd:string) AnnotationAssertion( "GARD:6564"^^xsd:string) AnnotationAssertion( "MESH:C564603"^^xsd:string) AnnotationAssertion( "MESH:D006211"^^xsd:string) AnnotationAssertion( "NCI:C84988"^^xsd:string) AnnotationAssertion( "NCI:C8967"^^xsd:string) AnnotationAssertion( "ORDO:157850"^^xsd:string) AnnotationAssertion( "Hallervorden Spatz disease"^^xsd:string) AnnotationAssertion( "Hallervorden Spatz syndrome"^^xsd:string) AnnotationAssertion( "Harp Syndrome"^^xsd:string) AnnotationAssertion( "Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration"^^xsd:string) AnnotationAssertion( "NBIA1"^^xsd:string) AnnotationAssertion( "Neurodegeneration With Brain Iron Accumulation 1"^^xsd:string) AnnotationAssertion( "PKAN"^^xsd:string) AnnotationAssertion( "PKAN neuroaxonal dystrophy, juvenile onset"^^xsd:string) AnnotationAssertion( "brain iron accumulation type I syndrome"^^xsd:string) AnnotationAssertion( "juvenile-onset neuroaxonal dystrophies"^^xsd:string) AnnotationAssertion( "juvenile-onset neuroaxonal dystrophy"^^xsd:string) AnnotationAssertion( "neurodegeneration with brain iron accumulation type 1"^^xsd:string) AnnotationAssertion( "pigmentary pallidal atrophy"^^xsd:string) AnnotationAssertion( "pigmentary pallidal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3981"^^xsd:string) AnnotationAssertion(rdfs:label "pantothenate kinase-associated neurodegeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meige syndrome) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A cranio-facial dystonia that is accompanied by blepharospasm. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7008"^^xsd:string) AnnotationAssertion( "MESH:D008538"^^xsd:string) AnnotationAssertion( "Blepharospasm Oromandibular Dyskinesia"^^xsd:string) AnnotationAssertion( "Blepharospasm Oromandibular Dystonia"^^xsd:string) AnnotationAssertion( "Blepharospasm Oromandibular Dystonia Syndrome"^^xsd:string) AnnotationAssertion( "Blepharospasm-Oromandibular Dystonia Syndromes"^^xsd:string) AnnotationAssertion( "Blepharospasm-Oromandibular Dystonias"^^xsd:string) AnnotationAssertion( "Brueghel Syndrome"^^xsd:string) AnnotationAssertion( "Idiopathic Blepharospasm Oromandibular Dystonia Syndrome"^^xsd:string) AnnotationAssertion( "Idiopathic Orofacial Dyskinesia"^^xsd:string) AnnotationAssertion( "blepharospasm-oromandibular dyskinesias"^^xsd:string) AnnotationAssertion( "idiopathic orofacial dyskinesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3982"^^xsd:string) AnnotationAssertion(rdfs:label "Meige syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oesophagostomiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007400"^^xsd:string) AnnotationAssertion( "MESH:D009814"^^xsd:string) AnnotationAssertion( "infection by Oesophagostomum"^^xsd:string) AnnotationAssertion( "oesophagostomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3983"^^xsd:string) AnnotationAssertion(rdfs:label "oesophagostomiasis"^^xsd:string) SubClassOf( ) # Class: (ostertagiasis) AnnotationAssertion(Annotation( "http://jvdi.org/cgi/reprint/1/2/195.pdf"^^xsd:string) "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007414"^^xsd:string) AnnotationAssertion( "MESH:D010029"^^xsd:string) AnnotationAssertion( "ostertagiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3985"^^xsd:string) AnnotationAssertion(rdfs:label "ostertagiasis"^^xsd:string) SubClassOf( ) # Class: (tuberculosis) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb"^^xsd:string) "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C536092"^^xsd:string) AnnotationAssertion( "MIM:300259"^^xsd:string) AnnotationAssertion( "MIM:607948"^^xsd:string) AnnotationAssertion( "MIM:607949"^^xsd:string) AnnotationAssertion( "MIM:611046"^^xsd:string) AnnotationAssertion( "MIM:612929"^^xsd:string) AnnotationAssertion( "EFO:0000774"^^xsd:string) AnnotationAssertion( "GARD:7827"^^xsd:string) AnnotationAssertion( "MESH:D014376"^^xsd:string) AnnotationAssertion( "MONDO:0018076"^^xsd:string) AnnotationAssertion( "Bcg infection, tuberculoid, antibiotic-responsive"^^xsd:string) AnnotationAssertion( "Koch disease"^^xsd:string) AnnotationAssertion( "Koch's disease"^^xsd:string) AnnotationAssertion( "Kochs Disease"^^xsd:string) AnnotationAssertion( "Mycobacterium Tuberculosis, Susceptibility To"^^xsd:string) AnnotationAssertion( "tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MTBS1"^^xsd:string) AnnotationAssertion( "MTBS2"^^xsd:string) AnnotationAssertion( "MTBS3"^^xsd:string) AnnotationAssertion( "MTBSX"^^xsd:string) AnnotationAssertion( "Mycobacterium Tuberculosis, Susceptibility To Infection By"^^xsd:string) AnnotationAssertion( "Mycobacterium Tuberculosis, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Mycobacterium Tuberculosis, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Mycobacterium Tuberculosis, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "mycobacterium tuberculosis, protection against"^^xsd:string) AnnotationAssertion( "mycobacterium tuberculosis, susceptibility to, X-linked"^^xsd:string) AnnotationAssertion( "tuberculosis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:399"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urinary system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string) "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000363"^^xsd:string) AnnotationAssertion( "ICD10CM:C68.9"^^xsd:string) AnnotationAssertion( "ICD9CM:189.9"^^xsd:string) AnnotationAssertion( "Cancer of Urinary Tract"^^xsd:string) AnnotationAssertion( "Urinary Tract Cancer"^^xsd:string) AnnotationAssertion( "Urological Cancer"^^xsd:string) AnnotationAssertion( "cancer of the urinary tract"^^xsd:string) AnnotationAssertion( "urinary tract cancers"^^xsd:string) AnnotationAssertion( "urologic cancer"^^xsd:string) AnnotationAssertion( "urologic cancers"^^xsd:string) AnnotationAssertion( "urological cancers"^^xsd:string) AnnotationAssertion( "urothelial cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3996"^^xsd:string) AnnotationAssertion(rdfs:label "urinary system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland transitional cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/"^^xsd:string) "A Bartholin's gland carcinoma that derives_from transitional epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40297"^^xsd:string) AnnotationAssertion( "Bartholin gland transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3998"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bartholin%27s_gland"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000103"^^xsd:string) AnnotationAssertion( "NCI:C9055"^^xsd:string) AnnotationAssertion( "Bartholin gland carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of Bartholin's gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:3999"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/"^^xsd:string) "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9007258"^^xsd:string) AnnotationAssertion( "EFO:0000408"^^xsd:string) AnnotationAssertion( "EFO:0000411"^^xsd:string) AnnotationAssertion( "MESH:C"^^xsd:string) AnnotationAssertion( "MESH:D004194"^^xsd:string) AnnotationAssertion( "NCI:C2991"^^xsd:string) AnnotationAssertion( "diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4"^^xsd:string) AnnotationAssertion(rdfs:label "disease"^^xsd:string) # Class: (ovary transitional cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/"^^xsd:string) "An ovarian epithelial cancer that derives_from epithelial transitional cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:4002"^^xsd:string) AnnotationAssertion( "EFO:1000435"^^xsd:string) AnnotationAssertion( "NCI:C40089"^^xsd:string) AnnotationAssertion( "NCI:C5240"^^xsd:string) AnnotationAssertion( "NCI:C7280"^^xsd:string) AnnotationAssertion( "malignant ovarian transitional cell neoplasm"^^xsd:string) AnnotationAssertion( "ovarian transitional cell cancer"^^xsd:string) AnnotationAssertion( "ovarian transitional cell neoplasm"^^xsd:string) AnnotationAssertion( "transitional cell carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4000"^^xsd:string) AnnotationAssertion(rdfs:label "ovary transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/ovarian"^^xsd:string) "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001075"^^xsd:string) AnnotationAssertion( "EFO:1000605"^^xsd:string) AnnotationAssertion( "MESH:D000077216"^^xsd:string) AnnotationAssertion( "NCI:C4908"^^xsd:string) AnnotationAssertion( "undifferentiated ovarian carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "epithelial ovarian carcinoma"^^xsd:string) AnnotationAssertion( "DOID:4001"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Schneiderian carcinoma) AnnotationAssertion(Annotation( "url:http://www.pathologyoutlines.com/topic/nasalcylindrical.html"^^xsd:string) "Rare variant of sinonasal squamous cell carcinoma in sinonasal tract; usually develops de novo, rarely arises from preexisting inverted papilloma."^^xsd:string) AnnotationAssertion( "ICDO:8121/3"^^xsd:string) AnnotationAssertion( "NCI:C54287"^^xsd:string) AnnotationAssertion( "Ringertz carcinoma"^^xsd:string) AnnotationAssertion( "cylindrical cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4003"^^xsd:string) AnnotationAssertion(rdfs:label "Schneiderian carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial transitional cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Transitional_cell_carcinoma"^^xsd:string) "An endometrial carcinoma that derives_from transitional epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40154"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4005"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder urothelial carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=46629"^^xsd:string) "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006544"^^xsd:string) AnnotationAssertion( "NCI:C39851"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "bladder transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "transitional cell carcinoma of bladder"^^xsd:string) AnnotationAssertion( "urinary bladder urothelial carcinoma"^^xsd:string) AnnotationAssertion( "DOID:4006"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder carcinoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104"^^xsd:string) "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000292"^^xsd:string) AnnotationAssertion( "MONDO:0004986"^^xsd:string) AnnotationAssertion( "NCI:C4912"^^xsd:string) AnnotationAssertion( "RDO:9001955"^^xsd:string) AnnotationAssertion( "URINARY BLADDER CARCINOMA"^^xsd:string) AnnotationAssertion( "carcinoma of bladder"^^xsd:string) AnnotationAssertion( "carcinoma of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4007"^^xsd:string) AnnotationAssertion(rdfs:label "bladder carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube transitional cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26894303/"^^xsd:string) "A fallopian tube carcinoma that derives_from epithelial transitional cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4008"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multidrug-resistant tuberculosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis"^^xsd:string) "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007381"^^xsd:string) AnnotationAssertion( "MESH:D018088"^^xsd:string) AnnotationAssertion( "NCI:C128415"^^xsd:string) AnnotationAssertion( "MDR tuberculosis"^^xsd:string) AnnotationAssertion( "drug-resistant tuberculosis"^^xsd:string) AnnotationAssertion( "multi-drug resistant tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:401"^^xsd:string) AnnotationAssertion(rdfs:label "multidrug-resistant tuberculosis"^^xsd:string) SubClassOf( ) # Class: (prostate transitional cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6506393"^^xsd:string) "A prostate carcinoma that derives_from transitional epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "transitional cell carcinoma of prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4011"^^xsd:string) AnnotationAssertion(rdfs:label "prostate transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary transitional carcinoma) AnnotationAssertion(Annotation( "https://www.healthline.com/health/papillary-urothelial-carcinoma"^^xsd:string) "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000450"^^xsd:string) AnnotationAssertion( "NCI:C4122"^^xsd:string) AnnotationAssertion( "papillary transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4012"^^xsd:string) AnnotationAssertion(rdfs:label "papillary transitional carcinoma"^^xsd:string) SubClassOf( ) # Class: (urethra transitional cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31950597/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9730148/"^^xsd:string) "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6166"^^xsd:string) AnnotationAssertion( "urethral transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4013"^^xsd:string) AnnotationAssertion(rdfs:label "urethra transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcomatoid transitional cell carcinoma) AnnotationAssertion(Annotation( "http://www.sciencedirect.com/science/article/pii/S0090429505013439"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/16504263/"^^xsd:string) "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4120"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "transitional spindle cell carcinoma"^^xsd:string) AnnotationAssertion( "DOID:4014"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid transitional cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004"^^xsd:string) "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000520"^^xsd:string) AnnotationAssertion( "NCI:C27004"^^xsd:string) AnnotationAssertion( "spindle cell carcinoma"^^xsd:string) AnnotationAssertion( "spindle cell carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4015"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid carcinoma"^^xsd:string) SubClassOf( ) # Class: (oral tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16900894"^^xsd:string) "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007407"^^xsd:string) AnnotationAssertion( "MESH:D014393"^^xsd:string) AnnotationAssertion( "oral tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:402"^^xsd:string) AnnotationAssertion(rdfs:label "oral tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureterocele) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23969704"^^xsd:string) "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. (DO)"^^xsd:string) AnnotationAssertion( "MIM:191650"^^xsd:string) AnnotationAssertion( "EFO:1001227"^^xsd:string) AnnotationAssertion( "MESH:D014518"^^xsd:string) AnnotationAssertion( "NCI:C123159"^^xsd:string) AnnotationAssertion( "ureteroceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4022"^^xsd:string) AnnotationAssertion(rdfs:label "ureterocele"^^xsd:string) SubClassOf( ) # Class: (linitis plastica) AnnotationAssertion(Annotation( "MESH:D008039"^^xsd:string) "A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a 'leather bottle' shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach."^^xsd:string) AnnotationAssertion( "ICDO:8142/3"^^xsd:string) AnnotationAssertion( "MESH:D008039"^^xsd:string) AnnotationAssertion( "NCI:C3190"^^xsd:string) AnnotationAssertion( "leather-bottle stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4023"^^xsd:string) AnnotationAssertion(rdfs:label "linitis plastica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scirrhous adenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/34084475/"^^xsd:string) "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007478"^^xsd:string) AnnotationAssertion( "ICDO:8141/3"^^xsd:string) AnnotationAssertion( "MESH:D002293"^^xsd:string) AnnotationAssertion( "NCI:C2928"^^xsd:string) AnnotationAssertion( "Scirrhous Adenocarcinomas"^^xsd:string) AnnotationAssertion( "Scirrhous Carcinoma"^^xsd:string) AnnotationAssertion( "Scirrhous Carcinomas"^^xsd:string) AnnotationAssertion( "adenocarcinoma with productive fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4024"^^xsd:string) AnnotationAssertion(rdfs:label "scirrhous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (angioma serpiginosum) AnnotationAssertion(Annotation( "http://www.dermnetnz.org/vascular/angioma-serpiginosa.html"^^xsd:string) "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300652"^^xsd:string) AnnotationAssertion( "ICD10CM:L81.7"^^xsd:string) AnnotationAssertion( "MESH:C536366"^^xsd:string) AnnotationAssertion( "NCI:C3926"^^xsd:string) AnnotationAssertion( "ORDO:95429"^^xsd:string) AnnotationAssertion( "Angioma Serpiginosum, X-Linked"^^xsd:string) AnnotationAssertion( "angioma serpiginosum of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4028"^^xsd:string) AnnotationAssertion(rdfs:label "angioma serpiginosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gastritis"^^xsd:string) "A stomach disease that is an inflammation of the lining of the stomach. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000217"^^xsd:string) AnnotationAssertion( "EFO:0000337"^^xsd:string) AnnotationAssertion( "ICD10CM:K29.7"^^xsd:string) AnnotationAssertion( "MESH:D005756"^^xsd:string) AnnotationAssertion( "NCI:C26780"^^xsd:string) AnnotationAssertion( "Gastritides"^^xsd:string) AnnotationAssertion( "acute gastric mucosal erosion"^^xsd:string) AnnotationAssertion( "chronic gastritis"^^xsd:string) AnnotationAssertion( "erosive gastritis"^^xsd:string) AnnotationAssertion( "erosive gastropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4029"^^xsd:string) AnnotationAssertion(rdfs:label "gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mouth disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology"^^xsd:string) "A gastrointestinal system disease that is located_in the mouth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001047"^^xsd:string) AnnotationAssertion( "MESH:D009059"^^xsd:string) AnnotationAssertion( "NCI:C27641"^^xsd:string) AnnotationAssertion( "NCI:C3240"^^xsd:string) AnnotationAssertion( "mouth diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:403"^^xsd:string) AnnotationAssertion(rdfs:label "mouth disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (eosinophilic gastritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:535.7"^^xsd:string) AnnotationAssertion( "NCI:C27052"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4030"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eosinophilic gastroenteritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:558.41"^^xsd:string) AnnotationAssertion( "MESH:C535952"^^xsd:string) AnnotationAssertion( "NCI:C35330"^^xsd:string) AnnotationAssertion( "Eosinophilic Enteropathy"^^xsd:string) AnnotationAssertion( "Eosinophilic enteritis"^^xsd:string) AnnotationAssertion( "Eosinophilic gastroenteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4031"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic gastroenteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bacterial gastritis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec09/ch121/ch121b.html"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts"^^xsd:string) "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27340"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4033"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fungal gastritis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec02/ch013/ch013c.html"^^xsd:string) "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4034"^^xsd:string) AnnotationAssertion(rdfs:label "fungal gastritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphocytic gastritis) AnnotationAssertion( "An uncommon chronic gastritis characterized by lymphocytosis of foveolar and surface epithelium."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4035"^^xsd:string) AnnotationAssertion(rdfs:label "lymphocytic gastritis"^^xsd:string) SubClassOf( ) # Class: (necrotizing gastritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27329"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4037"^^xsd:string) AnnotationAssertion(rdfs:label "necrotizing gastritis"^^xsd:string) SubClassOf( ) # Class: (granulomatous gastritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27348"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4038"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous gastritis"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal tuberculosis) AnnotationAssertion(Annotation( "http://smj.sma.org.sg/5006/5006pe1.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12864956"^^xsd:string) "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007280"^^xsd:string) AnnotationAssertion( "MESH:D014385"^^xsd:string) AnnotationAssertion( "tuberculosis of gastrointestinal tract"^^xsd:string) AnnotationAssertion( "tuberculosis of intestines, peritoneum, and mesenteric glands"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:404"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skeletal muscle cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6516"^^xsd:string) AnnotationAssertion( "malignant tumor of skeletal muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4043"^^xsd:string) AnnotationAssertion(rdfs:label "skeletal muscle cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skeletal muscle neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6514"^^xsd:string) AnnotationAssertion( "tumor of skeletal muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4044"^^xsd:string) AnnotationAssertion(rdfs:label "skeletal muscle neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscle cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Muscle"^^xsd:string) "A musculoskeletal system cancer that is located_in muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9008783"^^xsd:string) AnnotationAssertion( "EFO:0007384"^^xsd:string) AnnotationAssertion( "ICD10CM:C49"^^xsd:string) AnnotationAssertion( "MESH:D009217"^^xsd:string) AnnotationAssertion( "NCI:C4883"^^xsd:string) AnnotationAssertion( "cancer of muscle"^^xsd:string) AnnotationAssertion( "malignant neoplasm of muscle"^^xsd:string) AnnotationAssertion( "malignant tumor of muscle"^^xsd:string) AnnotationAssertion( "malignant tumor of the muscle"^^xsd:string) AnnotationAssertion( "muscle cancers"^^xsd:string) AnnotationAssertion( "myosarcoma"^^xsd:string) AnnotationAssertion( "myosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4045"^^xsd:string) AnnotationAssertion(rdfs:label "muscle cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6"^^xsd:string) "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5834"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4047"^^xsd:string) AnnotationAssertion(rdfs:label "liver rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5464"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4048"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28024111/"^^xsd:string) "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6617"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4049"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum sarcoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S1556086415305220"^^xsd:string) "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6606"^^xsd:string) AnnotationAssertion( "sarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4050"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alveolar rhabdomyosarcoma) AnnotationAssertion(Annotation( "MESH:D018232"^^xsd:string) "A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. 'Alveolar' refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)"^^xsd:string) AnnotationAssertion( "MIM:268220"^^xsd:string) AnnotationAssertion( "EFO:0000248"^^xsd:string) AnnotationAssertion( "GARD:4701"^^xsd:string) AnnotationAssertion( "ICDO:8920/3"^^xsd:string) AnnotationAssertion( "MESH:D018232"^^xsd:string) AnnotationAssertion( "NCI:C3749"^^xsd:string) AnnotationAssertion( "NCI:C7958"^^xsd:string) AnnotationAssertion( "RMS2"^^xsd:string) AnnotationAssertion( "RMSA"^^xsd:string) AnnotationAssertion( "alveolar childhood rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "alveolar rhabdomyosarcomas"^^xsd:string) AnnotationAssertion( "pediatric alveolar rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4051"^^xsd:string) AnnotationAssertion(rdfs:label "alveolar rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (rectum rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string) "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5627"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4053"^^xsd:string) AnnotationAssertion(rdfs:label "rectum rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate sarcoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/prostate-sarcoma"^^xsd:string) "A prostate cancer that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7731"^^xsd:string) AnnotationAssertion( "sarcoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4054"^^xsd:string) AnnotationAssertion(rdfs:label "prostate sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ectomesenchymoma) AnnotationAssertion( "ICDO:8921/3"^^xsd:string) AnnotationAssertion( "NCI:C4716"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma with ganglionic differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4055"^^xsd:string) AnnotationAssertion(rdfs:label "ectomesenchymoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder rhabdomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string) Annotation( "https://gut.bmj.com/content/35/6/854"^^xsd:string) "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5839"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4057"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19194282"^^xsd:string) "A sarcoma that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5736"^^xsd:string) AnnotationAssertion( "RDO:9003176"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5736"^^xsd:string) "malignant mesenchymal tumor of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4058"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovary rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9553806"^^xsd:string) "An ovary sarcoma that arises from skeletal muscle progenitors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5236"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4059"^^xsd:string) AnnotationAssertion(rdfs:label "ovary rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Rhabdomyosarcoma"^^xsd:string) "A breast sarcoma that arises from skeletal muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5190"^^xsd:string) AnnotationAssertion( "RDO:9003895"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5190"^^xsd:string) "Rhabdomyosarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4060"^^xsd:string) AnnotationAssertion(rdfs:label "breast rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testis rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21470524"^^xsd:string) "A testis sarcoma that arises from mesenchymal cells and is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6378"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4061"^^xsd:string) AnnotationAssertion(rdfs:label "testis rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testis sarcoma) AnnotationAssertion(Annotation( "https://jamanetwork.com/journals/jama/fullarticle/462919"^^xsd:string) "A sarcoma and malignant neoplasm of testis that is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6359"^^xsd:string) AnnotationAssertion( "sarcoma of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4062"^^xsd:string) AnnotationAssertion(rdfs:label "testis sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sarcoma_botryoides"^^xsd:string) "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5029"^^xsd:string) AnnotationAssertion( "sarcoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4064"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed type rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8902/3"^^xsd:string) AnnotationAssertion( "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4065"^^xsd:string) AnnotationAssertion(rdfs:label "mixed type rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (anus rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/"^^xsd:string) "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5610"^^xsd:string) AnnotationAssertion( "rhabdomyosarcoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4066"^^xsd:string) AnnotationAssertion(rdfs:label "anus rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sarcoma"^^xsd:string) "A sarcoma and malignant neoplasm of anus that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5611"^^xsd:string) AnnotationAssertion( "sarcoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4067"^^xsd:string) AnnotationAssertion(rdfs:label "anus sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatic tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/"^^xsd:string) "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007302"^^xsd:string) AnnotationAssertion( "MESH:D014386"^^xsd:string) AnnotationAssertion( "hepatic tuberculoses"^^xsd:string) AnnotationAssertion( "tuberculosis of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:407"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenogastric reflux) AnnotationAssertion(Annotation( "MESH:D004383"^^xsd:string) "Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH."^^xsd:string) AnnotationAssertion( "EFO:1000909"^^xsd:string) AnnotationAssertion( "MESH:D004383"^^xsd:string) AnnotationAssertion( "Duodenal Reflux"^^xsd:string) AnnotationAssertion( "Duodenal Refluxs"^^xsd:string) AnnotationAssertion( "Duodeno Gastric Reflux"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4071"^^xsd:string) AnnotationAssertion(rdfs:label "duodenogastric reflux"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (duodenum disease) AnnotationAssertion(Annotation( "MESH:D004378"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/002347.htm"^^xsd:string) "An intestinal disease that is located_in the duodenum. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004378"^^xsd:string) AnnotationAssertion( "duodenal disease"^^xsd:string) AnnotationAssertion( "duodenal diseases"^^xsd:string) AnnotationAssertion( "duodenum disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4072"^^xsd:string) AnnotationAssertion(rdfs:label "duodenum disease"^^xsd:string) SubClassOf( ) # Class: (pancreatic cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3874"^^xsd:string) AnnotationAssertion( "RDO:9002948"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:235966007"^^xsd:string) "cystadenocarcinoma of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4073"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A pancreatic carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000044"^^xsd:string) AnnotationAssertion( "NCI:C8294"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the pancreas"^^xsd:string) AnnotationAssertion( "pancreas adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4074"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8161/3"^^xsd:string) AnnotationAssertion( "NCI:C4130"^^xsd:string) AnnotationAssertion( "biliary cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4075"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tricuspid valve stenosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis"^^xsd:string) "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007525"^^xsd:string) AnnotationAssertion( "MESH:D014264"^^xsd:string) AnnotationAssertion( "NCI:C50783"^^xsd:string) AnnotationAssertion( "tricuspid stenosis"^^xsd:string) AnnotationAssertion( "tricuspid valve stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4078"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid valve stenosis"^^xsd:string) SubClassOf( ) # Class: (heart valve disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heart_valve_disease"^^xsd:string) "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009551"^^xsd:string) AnnotationAssertion( "MESH:D006349"^^xsd:string) AnnotationAssertion( "NCI:C45525"^^xsd:string) AnnotationAssertion( "Valvular Heart Disease"^^xsd:string) AnnotationAssertion( "Valvular Heart Diseases"^^xsd:string) AnnotationAssertion( "heart valve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4079"^^xsd:string) AnnotationAssertion(rdfs:label "heart valve disease"^^xsd:string) SubClassOf( ) # Class: (tricuspid valve insufficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tricuspid_insufficiency"^^xsd:string) "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014262"^^xsd:string) AnnotationAssertion( "NCI:C50842"^^xsd:string) AnnotationAssertion( "NCI:C50843"^^xsd:string) AnnotationAssertion( "tricuspid incompetence"^^xsd:string) AnnotationAssertion( "tricuspid regurgitation"^^xsd:string) AnnotationAssertion( "tricuspid valve incompetence"^^xsd:string) AnnotationAssertion( "tricuspid valve regurgitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4080"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid valve insufficiency"^^xsd:string) SubClassOf( ) # Class: (testicular trophoblastic tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39934"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4084"^^xsd:string) AnnotationAssertion(rdfs:label "testicular trophoblastic tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trophoblastic neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trophoblastic_neoplasm"^^xsd:string) "A germ cell and embryonal cancer that derives_from trophoblastic tissue. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D014328"^^xsd:string) AnnotationAssertion( "NCI:C3422"^^xsd:string) AnnotationAssertion( "Trophoblast Cancer"^^xsd:string) AnnotationAssertion( "Trophoblast Neoplasm"^^xsd:string) AnnotationAssertion( "Trophoblast Neoplasms"^^xsd:string) AnnotationAssertion( "Trophoblast Tumor"^^xsd:string) AnnotationAssertion( "Trophoblastic Cancer"^^xsd:string) AnnotationAssertion( "Trophoblastic Cancers"^^xsd:string) AnnotationAssertion( "Trophoblastic Tumor"^^xsd:string) AnnotationAssertion( "Trophoblastic Tumors"^^xsd:string) AnnotationAssertion( "trophoblast cancers"^^xsd:string) AnnotationAssertion( "trophoblast tumors"^^xsd:string) AnnotationAssertion( "trophoblastic neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4085"^^xsd:string) AnnotationAssertion(rdfs:label "trophoblastic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (testicular germ cell tumor non-seminomatous) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24819978/"^^xsd:string) "A testicular germ cell cancer characterized by the absence of a seminomatous component. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000401"^^xsd:string) AnnotationAssertion( "EFO:1000570"^^xsd:string) AnnotationAssertion( "ICDO:9065/3"^^xsd:string) AnnotationAssertion( "NCI:C9313"^^xsd:string) AnnotationAssertion( "RDO:9003739"^^xsd:string) AnnotationAssertion( "Non-Seminomatous Lesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4086"^^xsd:string) AnnotationAssertion(rdfs:label "testicular germ cell tumor non-seminomatous"^^xsd:string) SubClassOf( ) # Class: (testicular pure germ cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39915"^^xsd:string) AnnotationAssertion( "RDO:9003740"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4087"^^xsd:string) AnnotationAssertion(rdfs:label "testicular pure germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (liver disease) AnnotationAssertion( "Pathological processes of the LIVER. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001421"^^xsd:string) AnnotationAssertion( "ICD10CM:K70-K77"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.9"^^xsd:string) AnnotationAssertion( "ICD9CM:573.9"^^xsd:string) AnnotationAssertion( "MESH:D008107"^^xsd:string) AnnotationAssertion( "NCI:C3196"^^xsd:string) AnnotationAssertion( "Liver Dysfunction"^^xsd:string) AnnotationAssertion( "Liver Dysfunctions"^^xsd:string) AnnotationAssertion( "disorder of liver"^^xsd:string) AnnotationAssertion( "hepatic disorder"^^xsd:string) AnnotationAssertion( "liver diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PI M(MALTON)"^^xsd:string) AnnotationAssertion( "DOID:409"^^xsd:string) AnnotationAssertion(rdfs:label "liver disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (agnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007136"^^xsd:string) AnnotationAssertion( "GARD:8"^^xsd:string) AnnotationAssertion( "ICD10CM:R48.1"^^xsd:string) AnnotationAssertion( "MESH:D000377"^^xsd:string) AnnotationAssertion( "NCI:C84542"^^xsd:string) AnnotationAssertion( "Agnosia for Temperature"^^xsd:string) AnnotationAssertion( "Body Image Agnosia"^^xsd:string) AnnotationAssertion( "Developmental Agnosia"^^xsd:string) AnnotationAssertion( "Dyspraxia syndrome"^^xsd:string) AnnotationAssertion( "Gustatory Agnosia"^^xsd:string) AnnotationAssertion( "Ideational Agnosia"^^xsd:string) AnnotationAssertion( "Ideational Agnosias"^^xsd:string) AnnotationAssertion( "Olfactory Agnosia"^^xsd:string) AnnotationAssertion( "Olfactory Agnosias"^^xsd:string) AnnotationAssertion( "agnosia for pain"^^xsd:string) AnnotationAssertion( "agnosia for smell"^^xsd:string) AnnotationAssertion( "agnosia for taste"^^xsd:string) AnnotationAssertion( "agnosia for tastes"^^xsd:string) AnnotationAssertion( "agnosias"^^xsd:string) AnnotationAssertion( "body-image agnosias"^^xsd:string) AnnotationAssertion( "developmental agnosias"^^xsd:string) AnnotationAssertion( "dyspraxia"^^xsd:string) AnnotationAssertion( "position agnosia"^^xsd:string) AnnotationAssertion( "position agnosias"^^xsd:string) AnnotationAssertion( "sensory agnosia"^^xsd:string) AnnotationAssertion( "sensory agnosias"^^xsd:string) AnnotationAssertion( "visual disorientation syndrome"^^xsd:string) AnnotationAssertion( "visual disorientation syndromes"^^xsd:string) AnnotationAssertion( "visuospatial agnosia"^^xsd:string) AnnotationAssertion( "visuospatial agnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4090"^^xsd:string) AnnotationAssertion(rdfs:label "agnosia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tick infestation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tick"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm"^^xsd:string) "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007508"^^xsd:string) AnnotationAssertion( "MESH:D013984"^^xsd:string) AnnotationAssertion( "tick infestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4109"^^xsd:string) AnnotationAssertion(rdfs:label "tick infestation"^^xsd:string) SubClassOf( ) # Class: (parasitic ectoparasitic infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ectoparasitic_infestation"^^xsd:string) "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004478"^^xsd:string) AnnotationAssertion( "MONDO:0002875"^^xsd:string) AnnotationAssertion( "ectoparasitic infestation"^^xsd:string) AnnotationAssertion( "ectoparasitic infestations"^^xsd:string) AnnotationAssertion( "ectoparasitism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4110"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic ectoparasitic infectious disease"^^xsd:string) SubClassOf( ) # Class: (cervical adenosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/17292949/"^^xsd:string) "A cervical carcinosarcoma that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40229"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cervical Muellerian adenosarcoma"^^xsd:string) AnnotationAssertion( "cervical mullerian adenosarcoma"^^xsd:string) AnnotationAssertion( "DOID:4111"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenosarcoma"^^xsd:string) SubClassOf( ) # Class: (cervical carcinosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18357808"^^xsd:string) "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)"^^xsd:string) AnnotationAssertion( "DOID:6173"^^xsd:string) AnnotationAssertion( "NCI:C36097"^^xsd:string) AnnotationAssertion( "NCI:C40226"^^xsd:string) AnnotationAssertion( "NCI:C40228"^^xsd:string) AnnotationAssertion( "cervical malignant mixed Mullerian tumor"^^xsd:string) AnnotationAssertion( "cervical malignant mixed mesodermal mullerian tumor"^^xsd:string) AnnotationAssertion( "cervical mixed epithelial and mesenchymal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4112"^^xsd:string) AnnotationAssertion(rdfs:label "cervical carcinosarcoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus adenosarcoma) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm"^^xsd:string) "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6336"^^xsd:string) AnnotationAssertion( "adenosarcoma of uterine corpus"^^xsd:string) AnnotationAssertion( "uterine corpus mullerian adenosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4113"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus adenosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine body mixed cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Uterine_cancer"^^xsd:string) "A uterine corpus cancer that has_material_basis_in more than one type of cell. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6311"^^xsd:string) AnnotationAssertion( "malignant mixed tumor of corpus uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4114"^^xsd:string) AnnotationAssertion(rdfs:label "uterine body mixed cancer"^^xsd:string) SubClassOf( ) # Class: (ovarian mesodermal adenosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12360039"^^xsd:string) "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7317"^^xsd:string) AnnotationAssertion( "RDO:9001890"^^xsd:string) AnnotationAssertion( "ovarian mullerian adenosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4115"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mesodermal adenosarcoma"^^xsd:string) SubClassOf( ) # Class: (vaginal adenosarcoma) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm"^^xsd:string) "A vaginal carcinosarcoma derives_from the glands that line the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4117"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal adenosarcoma"^^xsd:string) SubClassOf( ) # Class: (colon neuroendocrine neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002027"^^xsd:string) AnnotationAssertion( "Colorectal Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "EFO:1000188"^^xsd:string) AnnotationAssertion( "EFO:1000195"^^xsd:string) AnnotationAssertion( "NCI:C5697"^^xsd:string) AnnotationAssertion( "colonic neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "Colon Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4118"^^xsd:string) AnnotationAssertion(rdfs:label "colon neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestinal neuroendocrine benign tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000154"^^xsd:string) AnnotationAssertion( "NCI:C5695"^^xsd:string) AnnotationAssertion( "RDO:9003736"^^xsd:string) AnnotationAssertion( "intestinal neuroendocrine benign tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5695"^^xsd:string) "neuroendocrine tumor of Intestine"^^xsd:string) AnnotationAssertion( "neuroendocrine tumour of Intestine"^^xsd:string) AnnotationAssertion( "Cecum Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4119"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal neuroendocrine benign tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nail disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nail_disease"^^xsd:string) "An integumentary system disease that is located_in nail. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L60"^^xsd:string) AnnotationAssertion( "ICD9CM:703"^^xsd:string) AnnotationAssertion( "MESH:D009260"^^xsd:string) AnnotationAssertion( "nail diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4123"^^xsd:string) AnnotationAssertion(rdfs:label "nail disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythrasma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erythrasma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30020724"^^xsd:string) "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000696"^^xsd:string) AnnotationAssertion( "ICD10CM:L08.1"^^xsd:string) AnnotationAssertion( "MESH:D004894"^^xsd:string) AnnotationAssertion( "infection due to corynebacterium minutissimum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4131"^^xsd:string) AnnotationAssertion(rdfs:label "erythrasma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myxosarcoma) AnnotationAssertion(Annotation( "MESH:D009236"^^xsd:string) "A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001056"^^xsd:string) AnnotationAssertion( "ICDO:8840/3"^^xsd:string) AnnotationAssertion( "MESH:D009236"^^xsd:string) AnnotationAssertion( "NCI:C3255"^^xsd:string) AnnotationAssertion( "Myxosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4136"^^xsd:string) AnnotationAssertion(rdfs:label "myxosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (common bile duct disease) AnnotationAssertion(Annotation( "MESH:D003137"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/common-bile-duct"^^xsd:string) "A bile duct disease that is located_in the common bile duct. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003137"^^xsd:string) AnnotationAssertion( "common bile duct diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4137"^^xsd:string) AnnotationAssertion(rdfs:label "common bile duct disease"^^xsd:string) SubClassOf( ) # Class: (bile duct disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/bileductdiseases.html"^^xsd:string) Annotation( "https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z"^^xsd:string) Annotation( "https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders"^^xsd:string) "A biliary tract disease located_in one or more bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000400"^^xsd:string) AnnotationAssertion( "MESH:D001649"^^xsd:string) AnnotationAssertion( "NCI:C96716"^^xsd:string) AnnotationAssertion( "bile duct diseases"^^xsd:string) AnnotationAssertion( "bile duct disorder"^^xsd:string) AnnotationAssertion( "disorder of bile duct"^^xsd:string) AnnotationAssertion( "Non-Neoplastic Bile Duct Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4138"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct disease"^^xsd:string) SubClassOf( ) # Class: (biliary dyskinesia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Biliary_dyskinesia"^^xsd:string) "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007169"^^xsd:string) AnnotationAssertion( "MESH:D001657"^^xsd:string) AnnotationAssertion( "biliary dyskinesias"^^xsd:string) AnnotationAssertion( "gallbladder dyskinesia"^^xsd:string) AnnotationAssertion( "gallbladder dyskinesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4140"^^xsd:string) AnnotationAssertion(rdfs:label "biliary dyskinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intraorbital meningioma) AnnotationAssertion(Annotation( "http://www.mayfieldclinic.com/pe-meni.htm"^^xsd:string) "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6778"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4141"^^xsd:string) AnnotationAssertion(rdfs:label "intraorbital meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbital cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK13668/"^^xsd:string) "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007408"^^xsd:string) AnnotationAssertion( "ICD10CM:C69.6"^^xsd:string) AnnotationAssertion( "ICD9CM:190.1"^^xsd:string) AnnotationAssertion( "NCI:C3290"^^xsd:string) AnnotationAssertion( "NCI:C3562"^^xsd:string) AnnotationAssertion( "malignant neoplasm of orbit"^^xsd:string) AnnotationAssertion( "neoplasm of orbit proper"^^xsd:string) AnnotationAssertion( "orbit cancer"^^xsd:string) AnnotationAssertion( "orbital tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4143"^^xsd:string) AnnotationAssertion(rdfs:label "orbital cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal adenoma) AnnotationAssertion( "EFO:1000217"^^xsd:string) AnnotationAssertion( "NCI:C36207"^^xsd:string) AnnotationAssertion( "GI adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4147"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal neuroendocrine benign tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27721"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4148"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal neuroendocrine benign tumor"^^xsd:string) SubClassOf( ) # Class: (skull base chordoma) AnnotationAssertion(Annotation( "https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85"^^xsd:string) "A chordoma that is located_in the skull base. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5453"^^xsd:string) AnnotationAssertion( "chordoma of the skull base"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4151"^^xsd:string) AnnotationAssertion(rdfs:label "skull base chordoma"^^xsd:string) SubClassOf( ) # Class: (chondroid chordoma) AnnotationAssertion(Annotation( "http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma"^^xsd:string) Annotation( "https://my.clevelandclinic.org/health/diseases/17916-chordoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/"^^xsd:string) "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000174"^^xsd:string) AnnotationAssertion( "ICDO:9371/3"^^xsd:string) AnnotationAssertion( "NCI:C6902"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4152"^^xsd:string) AnnotationAssertion(rdfs:label "chondroid chordoma"^^xsd:string) SubClassOf( ) # Class: (spinal chordoma) AnnotationAssertion(Annotation( "http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html"^^xsd:string) "A chordoma that derives_from the spine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000543"^^xsd:string) AnnotationAssertion( "NCI:C5156"^^xsd:string) AnnotationAssertion( "chordoma of spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4153"^^xsd:string) AnnotationAssertion(rdfs:label "spinal chordoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dentinogenesis imperfecta) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19021896/"^^xsd:string) "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125490"^^xsd:string) AnnotationAssertion( "GARD:6258"^^xsd:string) AnnotationAssertion( "MESH:D003811"^^xsd:string) AnnotationAssertion( "NCI:C84667"^^xsd:string) AnnotationAssertion( "ORDO:49042"^^xsd:string) AnnotationAssertion( "DGI-II"^^xsd:string) AnnotationAssertion( "DGI1"^^xsd:string) AnnotationAssertion( "Dentinogenesis Imperfecta 1"^^xsd:string) AnnotationAssertion( "Dentinogenesis Imperfecta without Osteogenesis Imperfecta"^^xsd:string) AnnotationAssertion( "Dentinogenesis Imperfecta, Shields Type 2"^^xsd:string) AnnotationAssertion( "Dentinogenesis Imperfecta, Shields Type Ii"^^xsd:string) AnnotationAssertion( "Hereditary Opalescent Dentin"^^xsd:string) AnnotationAssertion( "OPALESCENT DENTIN"^^xsd:string) AnnotationAssertion( "capdepont teeth"^^xsd:string) AnnotationAssertion( "opalescent teeth without osteogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4154"^^xsd:string) AnnotationAssertion(rdfs:label "dentinogenesis imperfecta"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary syphilis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis"^^xsd:string) "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:091"^^xsd:string) AnnotationAssertion( "MESH:C536772"^^xsd:string) AnnotationAssertion( "symptomatic early syphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4156"^^xsd:string) AnnotationAssertion(rdfs:label "primary syphilis"^^xsd:string) SubClassOf( ) # Class: (secondary syphilis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis"^^xsd:string) "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:091.9"^^xsd:string) AnnotationAssertion( "MESH:C536773"^^xsd:string) AnnotationAssertion( "NCI:C128413"^^xsd:string) AnnotationAssertion( "secondary syphilis of viscera or bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4157"^^xsd:string) AnnotationAssertion(rdfs:label "secondary syphilis"^^xsd:string) SubClassOf( ) # Class: (skin cancer) AnnotationAssertion(Annotation( "https://medlineplus.gov/skincancer.html"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Skin-Cancer"^^xsd:string) "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10421"^^xsd:string) AnnotationAssertion( "NCI:C2920"^^xsd:string) AnnotationAssertion( "CA - skin cancer"^^xsd:string) AnnotationAssertion( "cancer of skin"^^xsd:string) AnnotationAssertion( "cancer of the skin"^^xsd:string) AnnotationAssertion( "malignant neoplasm of skin"^^xsd:string) AnnotationAssertion( "melanoma and non-melanoma skin cancer"^^xsd:string) AnnotationAssertion( "skin cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4159"^^xsd:string) AnnotationAssertion(rdfs:label "skin cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (differentiating neuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C42048"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4160"^^xsd:string) AnnotationAssertion(rdfs:label "differentiating neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (ganglioneuroblastoma) AnnotationAssertion( "A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea."^^xsd:string) AnnotationAssertion( "EFO:0000502"^^xsd:string) AnnotationAssertion( "ICDO:9490/3"^^xsd:string) AnnotationAssertion( "MESH:D018305"^^xsd:string) AnnotationAssertion( "NCI:C3790"^^xsd:string) AnnotationAssertion( "ORDO:251877"^^xsd:string) AnnotationAssertion( "ganglioneuroblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4163"^^xsd:string) AnnotationAssertion(rdfs:label "ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (cerebral neuroblastoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neuroblastoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6886755"^^xsd:string) "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4826"^^xsd:string) AnnotationAssertion( "neuroblastoma of brain"^^xsd:string) AnnotationAssertion( "neuroblastoma of cerebrum"^^xsd:string) AnnotationAssertion( "neuroblastoma of the cerebral hemisphere"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4164"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syphilis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Syphilis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis"^^xsd:string) "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002601"^^xsd:string) AnnotationAssertion( "EFO:0007504"^^xsd:string) AnnotationAssertion( "EFO:1001247"^^xsd:string) AnnotationAssertion( "ICD10CM:A51.0"^^xsd:string) AnnotationAssertion( "MESH:D013587"^^xsd:string) AnnotationAssertion( "chancre"^^xsd:string) AnnotationAssertion( "chancres"^^xsd:string) AnnotationAssertion( "great pox"^^xsd:string) AnnotationAssertion( "syphilitic chancre"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4166"^^xsd:string) AnnotationAssertion(rdfs:label "syphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autoimmune disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autoimmune_disease"^^xsd:string) "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:109100"^^xsd:string) AnnotationAssertion( "MIM:613551"^^xsd:string) AnnotationAssertion( "EFO:0005140"^^xsd:string) AnnotationAssertion( "EFO:0005809"^^xsd:string) AnnotationAssertion( "ICD9CM:720"^^xsd:string) AnnotationAssertion( "MESH:D001327"^^xsd:string) AnnotationAssertion( "autoimmune diseases"^^xsd:string) AnnotationAssertion( "autoimmune hypersensitivity disease"^^xsd:string) AnnotationAssertion( "hypersensitivity reaction type II disease"^^xsd:string) AnnotationAssertion( "SIAE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AIS6"^^xsd:string) AnnotationAssertion( "Autoimmune Disease, Susceptibility To, 6"^^xsd:string) AnnotationAssertion( "autoimmune disease 6"^^xsd:string) AnnotationAssertion( "DOID:417"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rh isoimmunization) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:619462"^^xsd:string) AnnotationAssertion( "EFO:0008462"^^xsd:string) AnnotationAssertion( "EFO:1001159"^^xsd:string) AnnotationAssertion( "MESH:D012203"^^xsd:string) AnnotationAssertion( "NCI:C113150"^^xsd:string) AnnotationAssertion( "Rh incompatibility affecting management of mother"^^xsd:string) AnnotationAssertion( "maternal alloimmunization"^^xsd:string) AnnotationAssertion( "pregnancy induced alloimmunization"^^xsd:string) AnnotationAssertion( "ANTI-D ISOIMMUNIZATION AFFECTING PREGNANCY"^^xsd:string) AnnotationAssertion( "HEMOLYTIC DISEASE OF FETUS OR NEWBORN DUE TO RHD ISOIMMUNIZATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4175"^^xsd:string) AnnotationAssertion(rdfs:label "Rh isoimmunization"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blood group incompatibility) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D001787"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4176"^^xsd:string) AnnotationAssertion(rdfs:label "blood group incompatibility"^^xsd:string) SubClassOf( ) # Class: (systemic scleroderma) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/systemic-scleroderma"^^xsd:string) "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000717"^^xsd:string) AnnotationAssertion( "EFO:0008536"^^xsd:string) AnnotationAssertion( "EFO:0008537"^^xsd:string) AnnotationAssertion( "GARD:9748"^^xsd:string) AnnotationAssertion( "ICD10CM:M34.0"^^xsd:string) AnnotationAssertion( "ICD9CM:710.1"^^xsd:string) AnnotationAssertion( "MESH:D012595"^^xsd:string) AnnotationAssertion( "NCI:C72070"^^xsd:string) AnnotationAssertion( "progressive scleroderma"^^xsd:string) AnnotationAssertion( "progressive systemic sclerosis"^^xsd:string) AnnotationAssertion( "scleroderma syndrome"^^xsd:string) AnnotationAssertion( "systemic sclerosis"^^xsd:string) AnnotationAssertion( "anti-centromere-antibody-positive systemic scleroderma"^^xsd:string) AnnotationAssertion( "anti-topoisomerase-I-antibody-positive systemic scleroderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:418"^^xsd:string) AnnotationAssertion(rdfs:label "systemic scleroderma"^^xsd:string) SubClassOf( ) # Class: (pseudopseudohypoparathyroidism) AnnotationAssertion(Annotation( "MESH:D011556"^^xsd:string) "A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN."^^xsd:string) AnnotationAssertion( "MIM:612463"^^xsd:string) AnnotationAssertion( "GARD:7860"^^xsd:string) AnnotationAssertion( "MESH:D011556"^^xsd:string) AnnotationAssertion( "NCI:C129722"^^xsd:string) AnnotationAssertion( "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance"^^xsd:string) AnnotationAssertion( "PPHP"^^xsd:string) AnnotationAssertion( "Pseudo-Pseudohypoparathyroidisms"^^xsd:string) AnnotationAssertion( "Pseudopseudo Hypoparathyroidism"^^xsd:string) AnnotationAssertion( "Pseudopseudo-Hypoparathyroidisms"^^xsd:string) AnnotationAssertion( "normocalcemic pseudohypoparathyroidism"^^xsd:string) AnnotationAssertion( "pseudo pseudohypoparathyroidism"^^xsd:string) AnnotationAssertion( "pseudopseudohypoparathyroidisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4183"^^xsd:string) AnnotationAssertion(rdfs:label "pseudopseudohypoparathyroidism"^^xsd:string) SubClassOf( ) # Class: (pseudohypoparathyroidism) AnnotationAssertion(Annotation( "MESH:D011547"^^xsd:string) "A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN."^^xsd:string) AnnotationAssertion( "RDO:0004655"^^xsd:string) AnnotationAssertion( "GARD:10758"^^xsd:string) AnnotationAssertion( "ICD10CM:E20.1"^^xsd:string) AnnotationAssertion( "MESH:D011547"^^xsd:string) AnnotationAssertion( "NCI:C99027"^^xsd:string) AnnotationAssertion( "PHD Ib"^^xsd:string) AnnotationAssertion( "PHD1b"^^xsd:string) AnnotationAssertion( "Pseudohypoparathyroidisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4184"^^xsd:string) AnnotationAssertion(rdfs:label "pseudohypoparathyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (articulation disorder) AnnotationAssertion(Annotation( "https://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236"^^xsd:string) "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C563928"^^xsd:string) AnnotationAssertion( "MESH:D066229"^^xsd:string) AnnotationAssertion( "MIM:608445"^^xsd:string) AnnotationAssertion( "MESH:D001184"^^xsd:string) AnnotationAssertion( "MONDO:0002903"^^xsd:string) AnnotationAssertion( "Misarticulation"^^xsd:string) AnnotationAssertion( "Phonological Impairment"^^xsd:string) AnnotationAssertion( "Phonological Impairments"^^xsd:string) AnnotationAssertion( "Phonology Impairment"^^xsd:string) AnnotationAssertion( "Phonology Impairments"^^xsd:string) AnnotationAssertion( "SSD"^^xsd:string) AnnotationAssertion( "Speech Articulation Disorder"^^xsd:string) AnnotationAssertion( "Speech Articulation Disorders"^^xsd:string) AnnotationAssertion( "articulation disorders"^^xsd:string) AnnotationAssertion( "articulation impairment"^^xsd:string) AnnotationAssertion( "developmental articulation disorder"^^xsd:string) AnnotationAssertion( "developmental articulation disorders"^^xsd:string) AnnotationAssertion( "disarticulation disorder"^^xsd:string) AnnotationAssertion( "disarticulation disorders"^^xsd:string) AnnotationAssertion( "phonological disorder"^^xsd:string) AnnotationAssertion( "phonological disorders"^^xsd:string) AnnotationAssertion( "speech sound disorder"^^xsd:string) AnnotationAssertion( "speech sound disorders"^^xsd:string) AnnotationAssertion( "speech-sound disorder, hereditary"^^xsd:string) AnnotationAssertion( "unintelligible articulation"^^xsd:string) AnnotationAssertion( "unintelligible articulations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4186"^^xsd:string) AnnotationAssertion(rdfs:label "articulation disorder"^^xsd:string) SubClassOf( ) # Class: (echolalia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Echolalia"^^xsd:string) "A speech disorder that involves the automatic repetition of vocalizations made by another person. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004454"^^xsd:string) AnnotationAssertion( "NCI:C97166"^^xsd:string) AnnotationAssertion( "Echo Reaction"^^xsd:string) AnnotationAssertion( "Echo Speech"^^xsd:string) AnnotationAssertion( "echo reactions"^^xsd:string) AnnotationAssertion( "echophrasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4188"^^xsd:string) AnnotationAssertion(rdfs:label "echolalia"^^xsd:string) SubClassOf( ) # Class: (mutism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mutism"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Speech_disorder"^^xsd:string) "A speech disorder that involves a complete inability to speak. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009155"^^xsd:string) AnnotationAssertion( "Conversion Mutism"^^xsd:string) AnnotationAssertion( "Elective Mutism"^^xsd:string) AnnotationAssertion( "Elective Mutisms"^^xsd:string) AnnotationAssertion( "Kussmaul Aphasia"^^xsd:string) AnnotationAssertion( "Kussmaul's Aphasia"^^xsd:string) AnnotationAssertion( "Kussmauls Aphasia"^^xsd:string) AnnotationAssertion( "Mutisms"^^xsd:string) AnnotationAssertion( "Organic Mutism"^^xsd:string) AnnotationAssertion( "Organic Mutisms"^^xsd:string) AnnotationAssertion( "Selective Mutism"^^xsd:string) AnnotationAssertion( "Voluntary Mutism"^^xsd:string) AnnotationAssertion( "conversion mutisms"^^xsd:string) AnnotationAssertion( "voluntary mutisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4189"^^xsd:string) AnnotationAssertion(rdfs:label "mutism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scleroderma) AnnotationAssertion(Annotation( "http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string) Annotation( "https://scleroderma.org/"^^xsd:string) "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001993"^^xsd:string) AnnotationAssertion( "NCI:C26746"^^xsd:string) AnnotationAssertion( "dermatosclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:419"^^xsd:string) AnnotationAssertion(rdfs:label "scleroderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial thrombosis) AnnotationAssertion(Annotation( "MESH:D020767"^^xsd:string) "Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS."^^xsd:string) AnnotationAssertion( "ICD9CM:434.0"^^xsd:string) AnnotationAssertion( "MESH:D020767"^^xsd:string) AnnotationAssertion( "MONDO:0002907"^^xsd:string) AnnotationAssertion( "Brain Thrombosis"^^xsd:string) AnnotationAssertion( "Brain Thrombus"^^xsd:string) AnnotationAssertion( "Cerebral Thromboses"^^xsd:string) AnnotationAssertion( "Cerebral Thrombosis"^^xsd:string) AnnotationAssertion( "Cerebral Thrombus"^^xsd:string) AnnotationAssertion( "Intracranial Thromboses"^^xsd:string) AnnotationAssertion( "brain thromboses"^^xsd:string) AnnotationAssertion( "intracranial thrombus"^^xsd:string) AnnotationAssertion( "CVT"^^xsd:string) AnnotationAssertion( "cerebral venous thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4193"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (glucose metabolism disease) AnnotationAssertion(Annotation( "MESH:D044882"^^xsd:string) "Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM."^^xsd:string) AnnotationAssertion( "EFO:0009406"^^xsd:string) AnnotationAssertion( "MESH:D044882"^^xsd:string) AnnotationAssertion( "NCI:C53655"^^xsd:string) AnnotationAssertion( "Glucose Metabolic Disorder"^^xsd:string) AnnotationAssertion( "Glucose Metabolism Disorder"^^xsd:string) AnnotationAssertion( "disorder of glucose metabolism"^^xsd:string) AnnotationAssertion( "glucose metabolic disorders"^^xsd:string) AnnotationAssertion( "glucose metabolism disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4194"^^xsd:string) AnnotationAssertion(rdfs:label "glucose metabolism disease"^^xsd:string) SubClassOf( ) # Class: (hyperglycemia) AnnotationAssertion(Annotation( "MESH:D006943"^^xsd:string) "Abnormally high BLOOD GLUCOSE level."^^xsd:string) AnnotationAssertion( "ICD10CM:R73.9"^^xsd:string) AnnotationAssertion( "MESH:D006943"^^xsd:string) AnnotationAssertion( "MONDO:0002909"^^xsd:string) AnnotationAssertion( "NCI:C26797"^^xsd:string) AnnotationAssertion( "Hyperglycemias"^^xsd:string) AnnotationAssertion( "Postprandial Hyperglycemia"^^xsd:string) AnnotationAssertion( "Postprandial Hyperglycemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4195"^^xsd:string) AnnotationAssertion(rdfs:label "hyperglycemia"^^xsd:string) SubClassOf( ) # Class: (femoral neuropathy) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/000687.htm"^^xsd:string) "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000936"^^xsd:string) AnnotationAssertion( "ICD10CM:G57.2"^^xsd:string) AnnotationAssertion( "MESH:D020428"^^xsd:string) AnnotationAssertion( "NCI:C27595"^^xsd:string) AnnotationAssertion( "Femoral Mononeuropathies"^^xsd:string) AnnotationAssertion( "Femoral Mononeuropathy"^^xsd:string) AnnotationAssertion( "Femoral Nerve Disease"^^xsd:string) AnnotationAssertion( "Femoral Nerve Diseases"^^xsd:string) AnnotationAssertion( "Femoral Neuritis"^^xsd:string) AnnotationAssertion( "Femoral Neuropathies"^^xsd:string) AnnotationAssertion( "femoral nerve dysfunction"^^xsd:string) AnnotationAssertion( "femoral nerve lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4196"^^xsd:string) AnnotationAssertion(rdfs:label "femoral neuropathy"^^xsd:string) SubClassOf( ) # Class: (hypertrichosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18328202"^^xsd:string) "A hair disease characterized by hair growth that is abnormal in quantity or location. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L68"^^xsd:string) AnnotationAssertion( "MESH:D006983"^^xsd:string) AnnotationAssertion( "NCI:C79597"^^xsd:string) AnnotationAssertion( "ORDO:79365"^^xsd:string) AnnotationAssertion( "hypertrichoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:420"^^xsd:string) AnnotationAssertion(rdfs:label "hypertrichosis"^^xsd:string) SubClassOf( ) # Class: (peroneal neuropathy) AnnotationAssertion( "NCI:C27596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4201"^^xsd:string) AnnotationAssertion(rdfs:label "peroneal neuropathy"^^xsd:string) SubClassOf( ) # Class: (brain stem glioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brainstem_glioma"^^xsd:string) "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000141"^^xsd:string) AnnotationAssertion( "EFO:1000142"^^xsd:string) AnnotationAssertion( "NCI:C8501"^^xsd:string) AnnotationAssertion( "brainstem neuroglial tumor"^^xsd:string) AnnotationAssertion( "Brain Stem Glioblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4202"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain stem cancer) AnnotationAssertion( "GARD:8244"^^xsd:string) AnnotationAssertion( "ICD9CM:191.7"^^xsd:string) AnnotationAssertion( "NCI:C3570"^^xsd:string) AnnotationAssertion( "NCI:C4869"^^xsd:string) AnnotationAssertion( "NCI:C4975"^^xsd:string) AnnotationAssertion( "NCI:C5967"^^xsd:string) AnnotationAssertion( "malignant neoplasm of brain stem"^^xsd:string) AnnotationAssertion( "malignant neoplasm of brainstem"^^xsd:string) AnnotationAssertion( "malignant tumor of brainstem"^^xsd:string) AnnotationAssertion( "neoplasm of adult brain stem"^^xsd:string) AnnotationAssertion( "neoplasm of brain stem"^^xsd:string) AnnotationAssertion( "primary brain stem neoplasm"^^xsd:string) AnnotationAssertion( "primary brain stem tumor"^^xsd:string) AnnotationAssertion( "tumor of adult brainstem"^^xsd:string) AnnotationAssertion( "tumor of the brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4203"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem cancer"^^xsd:string) SubClassOf( ) # Class: (cerebellum cancer) AnnotationAssertion( "EFO:1000858"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.6"^^xsd:string) AnnotationAssertion( "ICD9CM:191.6"^^xsd:string) AnnotationAssertion( "NCI:C2935"^^xsd:string) AnnotationAssertion( "NCI:C3569"^^xsd:string) AnnotationAssertion( "cerebellar cancer"^^xsd:string) AnnotationAssertion( "cerebellar cancers"^^xsd:string) AnnotationAssertion( "malignant cerebellar neoplasm"^^xsd:string) AnnotationAssertion( "malignant cerebellar neoplasms"^^xsd:string) AnnotationAssertion( "malignant tumor of cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4205"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood brain stem neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969"^^xsd:string) "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5969"^^xsd:string) AnnotationAssertion( "pediatric tumor of brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4206"^^xsd:string) AnnotationAssertion(rdfs:label "childhood brain stem neoplasm"^^xsd:string) SubClassOf( ) # Class: (childhood infratentorial neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802"^^xsd:string) "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5802"^^xsd:string) AnnotationAssertion( "RDO:9004166"^^xsd:string) AnnotationAssertion( "pediatric infratentorial tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4207"^^xsd:string) AnnotationAssertion(rdfs:label "childhood infratentorial neoplasm"^^xsd:string) SubClassOf( ) # Class: (brainstem intraparenchymal clear cell meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5295"^^xsd:string) AnnotationAssertion( "intraparenchymal clear cell meningioma of the brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4209"^^xsd:string) AnnotationAssertion(rdfs:label "brainstem intraparenchymal clear cell meningioma"^^xsd:string) SubClassOf( ) # Class: (hair disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hair_disease"^^xsd:string) "An integumentary system disease that is located_in hair. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D006201"^^xsd:string) AnnotationAssertion( "NCI:C34656"^^xsd:string) AnnotationAssertion( "hair diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:421"^^xsd:string) AnnotationAssertion(rdfs:label "hair disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (clear cell meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000180"^^xsd:string) AnnotationAssertion( "ICDO:9538/1"^^xsd:string) AnnotationAssertion( "NCI:C4722"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4210"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell meningioma"^^xsd:string) SubClassOf( ) # Class: (posterior fossa meningioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33814376/"^^xsd:string) "A meningioma that affects the posterior cranial fossa. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6775"^^xsd:string) AnnotationAssertion( "meningioma of the posterior cranial fossa"^^xsd:string) AnnotationAssertion( "posterior cranial fossa meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4211"^^xsd:string) AnnotationAssertion(rdfs:label "posterior fossa meningioma"^^xsd:string) SubClassOf( ) # Class: (malignant ovarian Brenner tumor) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026"^^xsd:string) "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000357"^^xsd:string) AnnotationAssertion( "NCI:C4270"^^xsd:string) AnnotationAssertion( "Malignant Brenner Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4217"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ovarian Brenner tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital structural myopathy) AnnotationAssertion(Annotation( "MESH:D020914"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/23897157/"^^xsd:string) "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001374"^^xsd:string) AnnotationAssertion( "MESH:D020914"^^xsd:string) AnnotationAssertion( "NCI:C84648"^^xsd:string) AnnotationAssertion( "MTM1"^^xsd:string) AnnotationAssertion( "Myotubular Myopathies"^^xsd:string) AnnotationAssertion( "centronuclear myopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital fiber type disproportion myopathy"^^xsd:string) AnnotationAssertion( "congenital non progressive myopathies"^^xsd:string) AnnotationAssertion( "congenital non-progressive myopathy"^^xsd:string) AnnotationAssertion( "congenital structural myopathies"^^xsd:string) AnnotationAssertion( "myotubular myopathy"^^xsd:string) AnnotationAssertion( "myotubular myopathy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:422"^^xsd:string) AnnotationAssertion(rdfs:label "congenital structural myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pyoderma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pyoderma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Pyogenic"^^xsd:string) "A dermatitis that is characterized by a pyogenic infection causing the formation of pus. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:L08.0"^^xsd:string) AnnotationAssertion( "ICD9CM:686.0"^^xsd:string) AnnotationAssertion( "MESH:D011711"^^xsd:string) AnnotationAssertion( "Pyodermas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4223"^^xsd:string) AnnotationAssertion(rdfs:label "pyoderma"^^xsd:string) SubClassOf( ) # Class: (endometrial stromal sarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma"^^xsd:string) "An endometrial stromal tumor that has_material_basis_in connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000919"^^xsd:string) AnnotationAssertion( "GARD:6339"^^xsd:string) AnnotationAssertion( "ICDO:8930/3"^^xsd:string) AnnotationAssertion( "MESH:D018203"^^xsd:string) AnnotationAssertion( "NCI:C60395"^^xsd:string) AnnotationAssertion( "NCI:C8973"^^xsd:string) AnnotationAssertion( "ESS"^^xsd:string) AnnotationAssertion( "endometrial stromal sarcoma, high grade"^^xsd:string) AnnotationAssertion( "endometrial stromal sarcomas"^^xsd:string) AnnotationAssertion( "undifferentiated endometrial sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4226"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial stromal sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus endometrial stromal sarcoma) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21652246"^^xsd:string) "A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40219"^^xsd:string) AnnotationAssertion( "RDO:9004551"^^xsd:string) AnnotationAssertion( "uterine corpus endometrial stromal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4227"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus endometrial stromal sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myopathy"^^xsd:string) "A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000225"^^xsd:string) AnnotationAssertion( "EFO:0004145"^^xsd:string) AnnotationAssertion( "ICD10CM:G72.9"^^xsd:string) AnnotationAssertion( "ICD10CM:M60-M63"^^xsd:string) AnnotationAssertion( "ICD10CM:M62.9"^^xsd:string) AnnotationAssertion( "ICD9CM:359.9"^^xsd:string) AnnotationAssertion( "MIM:PS160565"^^xsd:string) AnnotationAssertion( "NCI:C101216"^^xsd:string) AnnotationAssertion( "Myopathic Condition"^^xsd:string) AnnotationAssertion( "Myopathic Conditions"^^xsd:string) AnnotationAssertion( "Myopathies"^^xsd:string) AnnotationAssertion( "acute quadriplegic myopathy"^^xsd:string) AnnotationAssertion( "skeletal myopathy"^^xsd:string) AnnotationAssertion( "variable myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:423"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy"^^xsd:string) SubClassOf( ) # Class: (smooth muscle cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6511"^^xsd:string) AnnotationAssertion( "malignant tumor of smooth muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4230"^^xsd:string) AnnotationAssertion(rdfs:label "smooth muscle cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histiocytoma) AnnotationAssertion(Annotation( "MESH:D051642"^^xsd:string) "A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA."^^xsd:string) AnnotationAssertion( "EFO:0005561"^^xsd:string) AnnotationAssertion( "ICDO:8831/0"^^xsd:string) AnnotationAssertion( "MESH:D051642"^^xsd:string) AnnotationAssertion( "NCI:C35765"^^xsd:string) AnnotationAssertion( "histiocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4231"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extraosseous Ewing sarcoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293"^^xsd:string) "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27293"^^xsd:string) AnnotationAssertion( "ORDO:370334"^^xsd:string) AnnotationAssertion( "Ewing sarcoma of soft tissue"^^xsd:string) AnnotationAssertion( "extraosseous Ewing's sarcoma"^^xsd:string) AnnotationAssertion( "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "extraskeletal Ewing sarcom"^^xsd:string) AnnotationAssertion( "extraskeletal Ewing sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4232"^^xsd:string) AnnotationAssertion(rdfs:label "extraosseous Ewing sarcoma"^^xsd:string) SubClassOf( ) # Class: (clear cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clear-cell_sarcoma"^^xsd:string) "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008498"^^xsd:string) AnnotationAssertion( "ICDO:9044/3"^^xsd:string) AnnotationAssertion( "MESH:D018227"^^xsd:string) AnnotationAssertion( "NCI:C27370"^^xsd:string) AnnotationAssertion( "NCI:C3745"^^xsd:string) AnnotationAssertion( "adult soft part clear cell sarcoma"^^xsd:string) AnnotationAssertion( "clear cell sarcoma of soft parts"^^xsd:string) AnnotationAssertion( "clear cell sarcomas"^^xsd:string) AnnotationAssertion( "malignant melanoma of soft parts"^^xsd:string) AnnotationAssertion( "malignant melanoma of soft tissues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4233"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell sarcoma) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma"^^xsd:string) "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8801/3"^^xsd:string) AnnotationAssertion( "NCI:C27005"^^xsd:string) AnnotationAssertion( "RDO:9003618"^^xsd:string) AnnotationAssertion( "spindle cell sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4235"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell sarcoma"^^xsd:string) SubClassOf( ) # Class: (carcinosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor"^^xsd:string) Annotation( "http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary/?CdrID=44003"^^xsd:string) "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8980/3"^^xsd:string) AnnotationAssertion( "MESH:D002296"^^xsd:string) AnnotationAssertion( "NCI:C34448"^^xsd:string) AnnotationAssertion( "NCI:C3730"^^xsd:string) AnnotationAssertion( "NCI:C8975"^^xsd:string) AnnotationAssertion( "carcinosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4236"^^xsd:string) AnnotationAssertion(rdfs:label "carcinosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alveolar soft part sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma"^^xsd:string) "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606243"^^xsd:string) AnnotationAssertion( "EFO:0007143"^^xsd:string) AnnotationAssertion( "GARD:5654"^^xsd:string) AnnotationAssertion( "ICDO:9581/3"^^xsd:string) AnnotationAssertion( "MESH:D018234"^^xsd:string) AnnotationAssertion( "NCI:C3750"^^xsd:string) AnnotationAssertion( "NCI:C7943"^^xsd:string) AnnotationAssertion( "NCI:C8092"^^xsd:string) AnnotationAssertion( "ORDO:163699"^^xsd:string) AnnotationAssertion( "ASPS"^^xsd:string) AnnotationAssertion( "adult alveolar soft part sarcoma"^^xsd:string) AnnotationAssertion( "childhood alveolar soft part sarcoma"^^xsd:string) AnnotationAssertion( "pediatric alveolar soft part sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4239"^^xsd:string) AnnotationAssertion(rdfs:label "alveolar soft part sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary immaturity) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/"^^xsd:string) "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P28.0"^^xsd:string) AnnotationAssertion( "ICD9CM:770.4"^^xsd:string) AnnotationAssertion( "primary atelectasis of newborn"^^xsd:string) AnnotationAssertion( "primary atelectasis, in perinatal period"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:424"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary immaturity"^^xsd:string) SubClassOf( ) # Class: (kidney sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp"^^xsd:string) "A kidney cancer that is located in the kidney's connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4525"^^xsd:string) AnnotationAssertion( "renal sarcoma"^^xsd:string) AnnotationAssertion( "sarcoma of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4242"^^xsd:string) AnnotationAssertion(rdfs:label "kidney sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (coronary restenosis) AnnotationAssertion(Annotation( "MESH:D023903"^^xsd:string) "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction."^^xsd:string) AnnotationAssertion( "EFO:0004224"^^xsd:string) AnnotationAssertion( "MESH:D023903"^^xsd:string) AnnotationAssertion( "Coronary Restenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4247"^^xsd:string) AnnotationAssertion(rdfs:label "coronary restenosis"^^xsd:string) SubClassOf( ) # Class: (coronary stenosis) AnnotationAssertion(Annotation( "MESH:D023921"^^xsd:string) "Narrowing or constriction of a coronary artery."^^xsd:string) AnnotationAssertion( "EFO:1000882"^^xsd:string) AnnotationAssertion( "MESH:D023921"^^xsd:string) AnnotationAssertion( "MONDO:0006715"^^xsd:string) AnnotationAssertion( "NCI:C80427"^^xsd:string) AnnotationAssertion( "coronary artery stenoses"^^xsd:string) AnnotationAssertion( "coronary artery stenosis"^^xsd:string) AnnotationAssertion( "coronary stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4248"^^xsd:string) AnnotationAssertion(rdfs:label "coronary stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gerstmann-Straussler-Scheinker syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvrd/prions/"^^xsd:string) "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:137440"^^xsd:string) AnnotationAssertion( "GARD:7690"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.82"^^xsd:string) AnnotationAssertion( "ICD9CM:046.71"^^xsd:string) AnnotationAssertion( "MESH:D016098"^^xsd:string) AnnotationAssertion( "NCI:C84727"^^xsd:string) AnnotationAssertion( "GSD"^^xsd:string) AnnotationAssertion( "GSS"^^xsd:string) AnnotationAssertion( "Gerstmann Straussler Disease"^^xsd:string) AnnotationAssertion( "Gerstmann Straussler Inherited Spongiform Encephalopathy"^^xsd:string) AnnotationAssertion( "Gerstmann Straussler syndrome"^^xsd:string) AnnotationAssertion( "Gerstmann-Straussler diseases"^^xsd:string) AnnotationAssertion( "Gerstmann-Straussler-Scheinker disease"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS"^^xsd:string) AnnotationAssertion( "subacute spongiform encephalopathy, Gerstmann-Straussler type"^^xsd:string) AnnotationAssertion( "cerebral amyloid angiopathy, PRNP-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4249"^^xsd:string) AnnotationAssertion(rdfs:label "Gerstmann-Straussler-Scheinker syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctivochalasis) AnnotationAssertion( "A conjunctival disease characterized by the presence of excess folds of the conjunctiva located between the globe of the eye and the eye-lid margin."^^xsd:string) AnnotationAssertion( "ICD10CM:H11.82"^^xsd:string) AnnotationAssertion( "ICD9CM:372.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4250"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctivochalasis"^^xsd:string) SubClassOf( ) # Class: (conjunctival disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605"^^xsd:string) "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000203"^^xsd:string) AnnotationAssertion( "ICD10CM:H11.9"^^xsd:string) AnnotationAssertion( "ICD9CM:372.9"^^xsd:string) AnnotationAssertion( "MESH:D003229"^^xsd:string) AnnotationAssertion( "NCI:C27605"^^xsd:string) AnnotationAssertion( "conjunctival diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4251"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival disease"^^xsd:string) SubClassOf( ) # Class: (Alexander disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alexander_disease"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm"^^xsd:string) Annotation( "http://www.omim.org/entry/203450"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract"^^xsd:string) "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9002692"^^xsd:string) AnnotationAssertion( "MESH:C531607"^^xsd:string) AnnotationAssertion( "MIM:203450"^^xsd:string) AnnotationAssertion( "OMIA:001208"^^xsd:string) AnnotationAssertion( "GARD:5774"^^xsd:string) AnnotationAssertion( "MESH:D038261"^^xsd:string) AnnotationAssertion( "NCI:C84545"^^xsd:string) AnnotationAssertion( "ORDO:58"^^xsd:string) AnnotationAssertion( "ALXDRD"^^xsd:string) AnnotationAssertion( "Alexander's disease"^^xsd:string) AnnotationAssertion( "Alexanders Leukodystrophy"^^xsd:string) AnnotationAssertion( "Alexanders disease"^^xsd:string) AnnotationAssertion( "Demyelinogenic Leukodystrophy"^^xsd:string) AnnotationAssertion( "GFAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "dysmyelinogenic leukodystrophy"^^xsd:string) AnnotationAssertion( "fibrinoid degeneration of astrocytes"^^xsd:string) AnnotationAssertion( "leukodystrophy with Rosenthal fibers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4252"^^xsd:string) AnnotationAssertion(rdfs:label "Alexander disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (melorheostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Melorheostosis"^^xsd:string) Annotation( "http://www.melorheostosis.com/"^^xsd:string) "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155950"^^xsd:string) AnnotationAssertion( "MAP2K1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "GARD:9474"^^xsd:string) AnnotationAssertion( "MESH:D008557"^^xsd:string) AnnotationAssertion( "NCI:C84887"^^xsd:string) AnnotationAssertion( "MEL"^^xsd:string) AnnotationAssertion( "MELORHEOSTOSIS, ISOLATED"^^xsd:string) AnnotationAssertion( "MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC"^^xsd:string) AnnotationAssertion( "Melorheostoses"^^xsd:string) AnnotationAssertion( "Melorheostosis of Leri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4253"^^xsd:string) AnnotationAssertion(rdfs:label "melorheostosis"^^xsd:string) SubClassOf( ) # Class: (osteosclerosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteosclerosis"^^xsd:string) "A bone remodeling disease that results_in abnormal elevated bone density or mass. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010026"^^xsd:string) AnnotationAssertion( "NCI:C41236"^^xsd:string) AnnotationAssertion( "osteoscleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4254"^^xsd:string) AnnotationAssertion(rdfs:label "osteosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Caffey disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis"^^xsd:string) "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:114000"^^xsd:string) AnnotationAssertion( "EFO:0004139"^^xsd:string) AnnotationAssertion( "GARD:1051"^^xsd:string) AnnotationAssertion( "ICD10CM:M89.8"^^xsd:string) AnnotationAssertion( "MESH:D006958"^^xsd:string) AnnotationAssertion( "MONDO:0007244"^^xsd:string) AnnotationAssertion( "NCI:C118423"^^xsd:string) AnnotationAssertion( "NCI:C84645"^^xsd:string) AnnotationAssertion( "Caffey De Toni Silvermann Syndrome"^^xsd:string) AnnotationAssertion( "Familial Caffey Disease"^^xsd:string) AnnotationAssertion( "Familial Caffey's Disease"^^xsd:string) AnnotationAssertion( "Familial Caffeys Disease"^^xsd:string) AnnotationAssertion( "Familial Infantile Cortical Hyperostosis"^^xsd:string) AnnotationAssertion( "Infantile Cortical Hyperostoses"^^xsd:string) AnnotationAssertion( "congenital cortical hyperostoses"^^xsd:string) AnnotationAssertion( "cortical congenital hyperostosis"^^xsd:string) AnnotationAssertion( "infantile cortical hyperostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4257"^^xsd:string) AnnotationAssertion(rdfs:label "Caffey disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weissenbacher-Zweymuller syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1"^^xsd:string) "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261800"^^xsd:string) AnnotationAssertion( "OMIA:001919"^^xsd:string) AnnotationAssertion( "MESH:D010855"^^xsd:string) AnnotationAssertion( "NCI:C85010"^^xsd:string) AnnotationAssertion( "PRBNS"^^xsd:string) AnnotationAssertion( "Piere-Robin syndrome"^^xsd:string) AnnotationAssertion( "Pierre Robin Sequence"^^xsd:string) AnnotationAssertion( "Pierre Robin malformation"^^xsd:string) AnnotationAssertion( "Pierre Robin syndrome"^^xsd:string) AnnotationAssertion( "Pierre Robin's Sequence"^^xsd:string) AnnotationAssertion( "Pierre Robins sequence"^^xsd:string) AnnotationAssertion( "Robin sequence"^^xsd:string) AnnotationAssertion( "WZS"^^xsd:string) AnnotationAssertion( "Weissenbacher-Zweymüller syndrome"^^xsd:string) AnnotationAssertion( "cleft palate 1"^^xsd:string) AnnotationAssertion( "glossoptosis, micrognathia, and cleft palate"^^xsd:string) AnnotationAssertion( "PIERRE ROBIN-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4258"^^xsd:string) AnnotationAssertion(rdfs:label "Weissenbacher-Zweymuller syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gait apraxia) AnnotationAssertion(Annotation( "MESH:D020235"^^xsd:string) "Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER'S DISEASE; and other conditions may be associated with gait apraxia."^^xsd:string) AnnotationAssertion( "EFO:1000944"^^xsd:string) AnnotationAssertion( "MESH:D020235"^^xsd:string) AnnotationAssertion( "Apraxia of Gait"^^xsd:string) AnnotationAssertion( "Bruns Gait Apraxia"^^xsd:string) AnnotationAssertion( "Bruns' Apraxia of Gait"^^xsd:string) AnnotationAssertion( "Bruns' gait apraxias"^^xsd:string) AnnotationAssertion( "Dyspraxia of Gait"^^xsd:string) AnnotationAssertion( "Frontal Gait Apraxia"^^xsd:string) AnnotationAssertion( "Frontal Gait Apraxias"^^xsd:string) AnnotationAssertion( "Gait Apraxias"^^xsd:string) AnnotationAssertion( "Gait Dyspraxia"^^xsd:string) AnnotationAssertion( "gait dyspraxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4260"^^xsd:string) AnnotationAssertion(rdfs:label "gait apraxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/"^^xsd:string) "A leiomyoma that is located_in the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000084"^^xsd:string) AnnotationAssertion( "EFO:1000806"^^xsd:string) AnnotationAssertion( "MESH:D018229"^^xsd:string) AnnotationAssertion( "NCI:C3747"^^xsd:string) AnnotationAssertion( "angioleiomyoma"^^xsd:string) AnnotationAssertion( "angioleiomyomas"^^xsd:string) AnnotationAssertion( "angiomyomas"^^xsd:string) AnnotationAssertion( "vascular leiomyoma"^^xsd:string) AnnotationAssertion( "vascular leiomyomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4265"^^xsd:string) AnnotationAssertion(rdfs:label "angiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intravascular angioleiomyoma) AnnotationAssertion( "NCI:C5355"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4266"^^xsd:string) AnnotationAssertion(rdfs:label "intravascular angioleiomyoma"^^xsd:string) SubClassOf( ) # Class: (akinetic mutism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Akinetic_mutism"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14642361"^^xsd:string) "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007138"^^xsd:string) AnnotationAssertion( "MESH:D000405"^^xsd:string) AnnotationAssertion( "MONDO:0005640"^^xsd:string) AnnotationAssertion( "Akinetic Autism"^^xsd:string) AnnotationAssertion( "Akinetic Mutisms"^^xsd:string) AnnotationAssertion( "Coma Vigil"^^xsd:string) AnnotationAssertion( "Coma Vigilans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4267"^^xsd:string) AnnotationAssertion(rdfs:label "akinetic mutism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (encephalitozoonosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35202528/"^^xsd:string) "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007250"^^xsd:string) AnnotationAssertion( "MESH:D016890"^^xsd:string) AnnotationAssertion( "Encephalitozoonoses"^^xsd:string) AnnotationAssertion( "infection by Encephalitozoon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4270"^^xsd:string) AnnotationAssertion(rdfs:label "encephalitozoonosis"^^xsd:string) SubClassOf( ) # Class: (microsporidiosis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm"^^xsd:string) "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007366"^^xsd:string) AnnotationAssertion( "GARD:3655"^^xsd:string) AnnotationAssertion( "ICD10CM:B60.8"^^xsd:string) AnnotationAssertion( "MESH:D016881"^^xsd:string) AnnotationAssertion( "NCI:C84891"^^xsd:string) AnnotationAssertion( "Microspora Infection"^^xsd:string) AnnotationAssertion( "Microspora Infections"^^xsd:string) AnnotationAssertion( "Microsporidioses"^^xsd:string) AnnotationAssertion( "infection by Microspora"^^xsd:string) AnnotationAssertion( "infection by Microsporea"^^xsd:string) AnnotationAssertion( "infection by Microsporida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4271"^^xsd:string) AnnotationAssertion(rdfs:label "microsporidiosis"^^xsd:string) SubClassOf( ) # Class: (penis basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html"^^xsd:string) "A basal cell carcinoma that is located_in the penis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39961"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of the penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4277"^^xsd:string) AnnotationAssertion(rdfs:label "penis basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scrotum basal cell carcinoma) AnnotationAssertion( "Basal cell carcinoma of scrotum."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6386"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6386"^^xsd:string) "Basal cell carcinoma of scrotum"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of the scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4278"^^xsd:string) AnnotationAssertion(rdfs:label "scrotum basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infundibulocystic basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2235986"^^xsd:string) "A variant of basal cell carcinoma characterized by follicular differentiation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604451"^^xsd:string) AnnotationAssertion( "RDO:0003532"^^xsd:string) AnnotationAssertion( "MESH:C537655"^^xsd:string) AnnotationAssertion( "basal cell carcinoma with follicular differentiation"^^xsd:string) AnnotationAssertion( "skin infundibulocystic basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4279"^^xsd:string) AnnotationAssertion(rdfs:label "infundibulocystic basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (nodular basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/"^^xsd:string) "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C62282"^^xsd:string) AnnotationAssertion( "circumscribed solid basal cell carcinoma"^^xsd:string) AnnotationAssertion( "skin nodulo-ulcerative basal cell carcinoma"^^xsd:string) AnnotationAssertion( "skin solid (nodular) basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4280"^^xsd:string) AnnotationAssertion(rdfs:label "nodular basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (metatypical basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/"^^xsd:string) "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003254"^^xsd:string) AnnotationAssertion( "Basosquamous carcinoma of skin"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C2922"^^xsd:string) "skin Metatypical carcinoma"^^xsd:string) AnnotationAssertion( "skin metatypical basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4281"^^xsd:string) AnnotationAssertion(rdfs:label "metatypical basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (pigmented basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/"^^xsd:string) "A basal cell carcinoma characterized by brown or black pigmentation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003256"^^xsd:string) AnnotationAssertion( "skin pigmented basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4282"^^xsd:string) AnnotationAssertion(rdfs:label "pigmented basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (anal margin basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html"^^xsd:string) "A basal cell carcinoma that is located_in the anal margin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C44.510"^^xsd:string) AnnotationAssertion( "NCI:C7473"^^xsd:string) AnnotationAssertion( "RDO:9002344"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of anal margin"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of perianal skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4283"^^xsd:string) AnnotationAssertion(rdfs:label "anal margin basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal margin carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp"^^xsd:string) "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7472"^^xsd:string) AnnotationAssertion( "RDO:9002343"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7472"^^xsd:string) "Perianal skin carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "carcinoma of anal margin"^^xsd:string) AnnotationAssertion( "DOID:4284"^^xsd:string) AnnotationAssertion(rdfs:label "anal margin carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin nasal cell carcinoma with sebaceous differentiation) AnnotationAssertion(Annotation( "https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx"^^xsd:string) "A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4346"^^xsd:string) AnnotationAssertion( "sebaceous basal cell carcinoma"^^xsd:string) AnnotationAssertion( "skin basosebaceous basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4286"^^xsd:string) AnnotationAssertion(rdfs:label "skin nasal cell carcinoma with sebaceous differentiation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (external ear basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6082"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of external ear"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of the external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4287"^^xsd:string) AnnotationAssertion(rdfs:label "external ear basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (external ear carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6081"^^xsd:string) AnnotationAssertion( "carcinoma of external ear"^^xsd:string) AnnotationAssertion( "carcinoma of the external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4288"^^xsd:string) AnnotationAssertion(rdfs:label "external ear carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (micronodular basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/"^^xsd:string) "A basal cell carcinoma characterized by solid tumor nodules. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "skin micronodular basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4289"^^xsd:string) AnnotationAssertion(rdfs:label "micronodular basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gynatresia) AnnotationAssertion(Annotation( "https://fertilitypedia.org/edu/diagnoses/gynatresia"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22717415"^^xsd:string) "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001335"^^xsd:string) AnnotationAssertion( "MESH:D006175"^^xsd:string) AnnotationAssertion( "NCI:C84743"^^xsd:string) AnnotationAssertion( "Asherman Syndrome"^^xsd:string) AnnotationAssertion( "Asherman's Syndrome"^^xsd:string) AnnotationAssertion( "Ashermans Syndrome"^^xsd:string) AnnotationAssertion( "Gynatresias"^^xsd:string) AnnotationAssertion( "Intrauterine Synechiae"^^xsd:string) AnnotationAssertion( "Uterine Synechiae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:429"^^xsd:string) AnnotationAssertion(rdfs:label "gynatresia"^^xsd:string) SubClassOf( ) # Class: (adamantinoid basal cell epithelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7585"^^xsd:string) AnnotationAssertion( "RDO:9003260"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:402524007"^^xsd:string) "Basal cell carcinoma - adamantinoid"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254728002"^^xsd:string) "Melanotic adamantinoma of skin"^^xsd:string) AnnotationAssertion( "skin adamantinoid basal cell epithelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4290"^^xsd:string) AnnotationAssertion(rdfs:label "adamantinoid basal cell epithelioma"^^xsd:string) SubClassOf( ) # Class: (fibroepithelial basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4109"^^xsd:string) AnnotationAssertion( "RDO:9003262"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254703005"^^xsd:string) "Fibroepithelioma of Pinkus"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:43369006"^^xsd:string) "Fibroepithelioma of Pinkus type"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4109"^^xsd:string) "Pinkus tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4291"^^xsd:string) AnnotationAssertion(rdfs:label "fibroepithelial basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (morpheaform basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27182"^^xsd:string) AnnotationAssertion( "RDO:9003263"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:56665009"^^xsd:string) "Basal cell carcinoma, morphea"^^xsd:string) AnnotationAssertion( "Cicatricial basal-cell carcinoma"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27182"^^xsd:string) "Morphea-type (Sclerosing) Basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4292"^^xsd:string) AnnotationAssertion(rdfs:label "morpheaform basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (clear cell basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27536"^^xsd:string) AnnotationAssertion( "RDO:9003267"^^xsd:string) AnnotationAssertion( "skin clear cell basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4293"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (adenoid basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/"^^xsd:string) "A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27535"^^xsd:string) AnnotationAssertion( "skin adenoid basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4294"^^xsd:string) AnnotationAssertion(rdfs:label "adenoid basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (follicular basal cell carcinoma) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57"^^xsd:string) "A basal cell carcinoma that is characterized by follicular differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27538"^^xsd:string) AnnotationAssertion( "Skin Follicular Basal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "follicular (pilar) basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4295"^^xsd:string) AnnotationAssertion(rdfs:label "follicular basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (scimitar syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Scimitar_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31536209"^^xsd:string) "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106700"^^xsd:string) AnnotationAssertion( "EFO:1001167"^^xsd:string) AnnotationAssertion( "ICD10CM:Q26.2"^^xsd:string) AnnotationAssertion( "ICD10CM:Q26.8"^^xsd:string) AnnotationAssertion( "MESH:D012587"^^xsd:string) AnnotationAssertion( "NCI:C85056"^^xsd:string) AnnotationAssertion( "NCI:C98585"^^xsd:string) AnnotationAssertion( "ORDO:185"^^xsd:string) AnnotationAssertion( "ORDO:99125"^^xsd:string) AnnotationAssertion( "APVR"^^xsd:string) AnnotationAssertion( "Halasz syndrome"^^xsd:string) AnnotationAssertion( "Pulmonary Venous Return Anomaly"^^xsd:string) AnnotationAssertion( "Scimitar Anomaly"^^xsd:string) AnnotationAssertion( "TAPVR"^^xsd:string) AnnotationAssertion( "TAPVR1"^^xsd:string) AnnotationAssertion( "Total Anomalous Pulmonary Venous Return"^^xsd:string) AnnotationAssertion( "anomalous pulmonary venous return"^^xsd:string) AnnotationAssertion( "congenital venolobar syndrome"^^xsd:string) AnnotationAssertion( "hypogenetic lung syndrome"^^xsd:string) AnnotationAssertion( "mirror-image lung syndrome"^^xsd:string) AnnotationAssertion( "pulmonary venolobar syndrome"^^xsd:string) AnnotationAssertion( "total anomalous pulmonary venous return 1"^^xsd:string) AnnotationAssertion( "vena cava bronchovascular syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4297"^^xsd:string) AnnotationAssertion(rdfs:label "scimitar syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infiltrative basal cell carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30710602/"^^xsd:string) "A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "skin infiltrating basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4299"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrative basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (superficial basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8091/3"^^xsd:string) AnnotationAssertion( "NCI:C4108"^^xsd:string) AnnotationAssertion( "RDO:9003275"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:61098004"^^xsd:string) "Multifocal superficial basal cell carcinoma"^^xsd:string) AnnotationAssertion( "Multifocal superficial basal cell carcinoma (morphologic abnormality)"^^xsd:string) AnnotationAssertion( "Superficial multicentric basal-cell carcinoma"^^xsd:string) AnnotationAssertion( "multicentric basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4300"^^xsd:string) AnnotationAssertion(rdfs:label "superficial basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (vulva basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22935972"^^xsd:string) "A vulva carcinoma that has_material_basis_in basal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6381"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "basal cell carcinoma of the vulva"^^xsd:string) AnnotationAssertion( "DOID:4301"^^xsd:string) AnnotationAssertion(rdfs:label "vulva basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cystic basal cell carcinoma) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/jsc/2011/450472/"^^xsd:string) "A nodular basal cell carcinoma that is characterized by a homogenous blue/black area. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "skin cystic basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4302"^^xsd:string) AnnotationAssertion(rdfs:label "cystic basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38111"^^xsd:string) AnnotationAssertion( "RDO:9003278"^^xsd:string) AnnotationAssertion( "skin sarcomatoid basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4303"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid basal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (signet ring basal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38110"^^xsd:string) AnnotationAssertion( "RDO:9003279"^^xsd:string) AnnotationAssertion( "skin signet ring cell basal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4304"^^xsd:string) AnnotationAssertion(rdfs:label "signet ring basal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone giant cell tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone"^^xsd:string) "A benign giant cell tumor that results_in the presence of multinucleated giant cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007176"^^xsd:string) AnnotationAssertion( "MESH:D018212"^^xsd:string) AnnotationAssertion( "NCI:C121932"^^xsd:string) AnnotationAssertion( "bone giant cell tumour"^^xsd:string) AnnotationAssertion( "giant cell neoplasm of bone"^^xsd:string) AnnotationAssertion( "giant cell tumor of bone"^^xsd:string) AnnotationAssertion( "giant cell tumour of bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "giant cell myeloma"^^xsd:string) AnnotationAssertion( "osteoclastoma"^^xsd:string) AnnotationAssertion( "DOID:4305"^^xsd:string) AnnotationAssertion(rdfs:label "bone giant cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (radiculopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Radiculopathy"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy"^^xsd:string) "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M54.1"^^xsd:string) AnnotationAssertion( "MESH:D011843"^^xsd:string) AnnotationAssertion( "Cervical Radiculopathy"^^xsd:string) AnnotationAssertion( "Nerve Root Avulsion"^^xsd:string) AnnotationAssertion( "Nerve Root Compression"^^xsd:string) AnnotationAssertion( "Nerve Root Compressions"^^xsd:string) AnnotationAssertion( "Nerve Root Disorder"^^xsd:string) AnnotationAssertion( "Nerve Root Disorders"^^xsd:string) AnnotationAssertion( "Nerve Root Inflammation"^^xsd:string) AnnotationAssertion( "Nerve Root Inflammations"^^xsd:string) AnnotationAssertion( "Radiculitides"^^xsd:string) AnnotationAssertion( "cervical radiculopathies"^^xsd:string) AnnotationAssertion( "nerve root avulsions"^^xsd:string) AnnotationAssertion( "pinched nerve"^^xsd:string) AnnotationAssertion( "radiculitis"^^xsd:string) AnnotationAssertion( "radiculopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4306"^^xsd:string) AnnotationAssertion(rdfs:label "radiculopathy"^^xsd:string) SubClassOf( ) # Class: (polyradiculopathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Radiculopathy"^^xsd:string) "A radiculopathy that is present in more than one nerve. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011128"^^xsd:string) AnnotationAssertion( "MONDO:0002960"^^xsd:string) AnnotationAssertion( "NCI:C34934"^^xsd:string) AnnotationAssertion( "abdominal polyradiculopathies"^^xsd:string) AnnotationAssertion( "abdominal polyradiculopathy"^^xsd:string) AnnotationAssertion( "polyradiculitides"^^xsd:string) AnnotationAssertion( "polyradiculitis"^^xsd:string) AnnotationAssertion( "polyradiculopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4307"^^xsd:string) AnnotationAssertion(rdfs:label "polyradiculopathy"^^xsd:string) SubClassOf( ) # Class: (polyradiculoneuropathy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polyradiculoneuropathy"^^xsd:string) "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001116"^^xsd:string) AnnotationAssertion( "MESH:D011129"^^xsd:string) AnnotationAssertion( "peripheral autoimmune demyelinating disease"^^xsd:string) AnnotationAssertion( "polyradiculoneuritides"^^xsd:string) AnnotationAssertion( "polyradiculoneuritis"^^xsd:string) AnnotationAssertion( "polyradiculoneuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4308"^^xsd:string) AnnotationAssertion(rdfs:label "polyradiculoneuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myofascial pain syndrome) AnnotationAssertion(Annotation( "MESH:D009209"^^xsd:string) "Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME."^^xsd:string) AnnotationAssertion( "EFO:1001054"^^xsd:string) AnnotationAssertion( "MESH:D009209"^^xsd:string) AnnotationAssertion( "Myofascial Trigger Point Pain"^^xsd:string) AnnotationAssertion( "myofascial pain syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:431"^^xsd:string) AnnotationAssertion(rdfs:label "myofascial pain syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (smooth muscle tumor) AnnotationAssertion(Annotation( "MESH:D018235"^^xsd:string) "A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle."^^xsd:string) AnnotationAssertion( "EFO:1001185"^^xsd:string) AnnotationAssertion( "MESH:D018235"^^xsd:string) AnnotationAssertion( "NCI:C3751"^^xsd:string) AnnotationAssertion( "Smooth Muscle Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4310"^^xsd:string) AnnotationAssertion(rdfs:label "smooth muscle tumor"^^xsd:string) SubClassOf( ) # Class: (epidermolysis bullosa acquisita) AnnotationAssertion(Annotation( "https://www.nejm.org/doi/full/10.1056/NEJMicm1204895"^^xsd:string) "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000691"^^xsd:string) AnnotationAssertion( "ICD10CM:L12.3"^^xsd:string) AnnotationAssertion( "MESH:D016107"^^xsd:string) AnnotationAssertion( "NCI:C84690"^^xsd:string) AnnotationAssertion( "acquired epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "acquired form of epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4313"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa acquisita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-gestational choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/"^^xsd:string) "A choriocarcicoma that develops in the absence of a preceding gestational event. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001064"^^xsd:string) AnnotationAssertion( "MESH:D031954"^^xsd:string) AnnotationAssertion( "non-gestational choriocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4320"^^xsd:string) AnnotationAssertion(rdfs:label "non-gestational choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (large cell acanthoma) AnnotationAssertion( "ICDO:8072/0"^^xsd:string) AnnotationAssertion( "NCI:C27518"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4321"^^xsd:string) AnnotationAssertion(rdfs:label "large cell acanthoma"^^xsd:string) SubClassOf( ) # Class: (pilar sheath acanthoma) AnnotationAssertion( "EFO:1001107"^^xsd:string) AnnotationAssertion( "ICDO:8104/0"^^xsd:string) AnnotationAssertion( "NCI:C4468"^^xsd:string) AnnotationAssertion( "pilar sheath acanthomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4322"^^xsd:string) AnnotationAssertion(rdfs:label "pilar sheath acanthoma"^^xsd:string) SubClassOf( ) # Class: (epidermolytic acanthoma) AnnotationAssertion( "NCI:C27516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4323"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic acanthoma"^^xsd:string) SubClassOf( ) # Class: (acantholytic acanthoma) AnnotationAssertion( "NCI:C27517"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4324"^^xsd:string) AnnotationAssertion(rdfs:label "acantholytic acanthoma"^^xsd:string) SubClassOf( ) # Class: (Ebola hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007243"^^xsd:string) AnnotationAssertion( "GARD:2035"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.4"^^xsd:string) AnnotationAssertion( "MESH:D019142"^^xsd:string) AnnotationAssertion( "NCI:C36171"^^xsd:string) AnnotationAssertion( "Ebola Infection"^^xsd:string) AnnotationAssertion( "Ebola Virus Disease"^^xsd:string) AnnotationAssertion( "Ebola Virus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4325"^^xsd:string) AnnotationAssertion(rdfs:label "Ebola hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Marburg hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007358"^^xsd:string) AnnotationAssertion( "GARD:9444"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.3"^^xsd:string) AnnotationAssertion( "MESH:D008379"^^xsd:string) AnnotationAssertion( "NCI:C84883"^^xsd:string) AnnotationAssertion( "Marburg disease"^^xsd:string) AnnotationAssertion( "Marburg virus disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4327"^^xsd:string) AnnotationAssertion(rdfs:label "Marburg hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Erdheim-Chester disease) AnnotationAssertion(Annotation( "MESH:D031249"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/erdheim-chester-disease/"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/erdheim-chester-disease/"^^xsd:string) "A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000926"^^xsd:string) AnnotationAssertion( "GARD:6369"^^xsd:string) AnnotationAssertion( "MESH:D031249"^^xsd:string) AnnotationAssertion( "NCI:C53972"^^xsd:string) AnnotationAssertion( "Lipid Granulomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4329"^^xsd:string) AnnotationAssertion(rdfs:label "Erdheim-Chester disease"^^xsd:string) SubClassOf( ) # Class: (non-Langerhans-cell histiocytosis) AnnotationAssertion(Annotation( "MESH:D015616"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/15547923/"^^xsd:string) "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8231"^^xsd:string) AnnotationAssertion( "MESH:D015616"^^xsd:string) AnnotationAssertion( "Xanthoma Disseminatum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4330"^^xsd:string) AnnotationAssertion(rdfs:label "non-Langerhans-cell histiocytosis"^^xsd:string) SubClassOf( ) # Class: (burning mouth syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30189984/"^^xsd:string) "A mouth disease that is characterized by long-lasting burning sensations of the mouth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000850"^^xsd:string) AnnotationAssertion( "GARD:5974"^^xsd:string) AnnotationAssertion( "MESH:D002054"^^xsd:string) AnnotationAssertion( "NCI:C62545"^^xsd:string) AnnotationAssertion( "Burning Mouth Syndromes"^^xsd:string) AnnotationAssertion( "Orodynia"^^xsd:string) AnnotationAssertion( "Stomatopyrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4331"^^xsd:string) AnnotationAssertion(rdfs:label "burning mouth syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parovarian cyst) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Paraovarian_cyst"^^xsd:string) "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:Q50.4"^^xsd:string) AnnotationAssertion( "ICD10CM:Q50.5"^^xsd:string) AnnotationAssertion( "MESH:D010310"^^xsd:string) AnnotationAssertion( "Hydatid Cyst of Morgagni"^^xsd:string) AnnotationAssertion( "Hydatid of Morgagni"^^xsd:string) AnnotationAssertion( "Morgagni Hydatid"^^xsd:string) AnnotationAssertion( "Morgagni Hydatid Cyst"^^xsd:string) AnnotationAssertion( "Morgagni Hydatid Cysts"^^xsd:string) AnnotationAssertion( "Morgagni Hydatids"^^xsd:string) AnnotationAssertion( "Paratubal Cyst"^^xsd:string) AnnotationAssertion( "Paratubal Cysts"^^xsd:string) AnnotationAssertion( "Parovarian Cysts"^^xsd:string) AnnotationAssertion( "embryonic fimbrial cyst"^^xsd:string) AnnotationAssertion( "fimbrial cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4333"^^xsd:string) AnnotationAssertion(rdfs:label "parovarian cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic manifestation of prolymphocytic leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7297"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4334"^^xsd:string) AnnotationAssertion(rdfs:label "splenic manifestation of prolymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tinea favosa) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/"^^xsd:string) "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007511"^^xsd:string) AnnotationAssertion( "MESH:D014007"^^xsd:string) AnnotationAssertion( "NCI:C35072"^^xsd:string) AnnotationAssertion( "favus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4336"^^xsd:string) AnnotationAssertion(rdfs:label "tinea favosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tinea capitis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm"^^xsd:string) Annotation( "https://drfungus.org/knowledge-base/tinea-capitis/"^^xsd:string) "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:110.0"^^xsd:string) AnnotationAssertion( "MESH:D014006"^^xsd:string) AnnotationAssertion( "NCI:C34536"^^xsd:string) AnnotationAssertion( "Kerion Celsi"^^xsd:string) AnnotationAssertion( "Trichophytia Profunda Barbae"^^xsd:string) AnnotationAssertion( "Trichophytia Profunda Capitides"^^xsd:string) AnnotationAssertion( "dermatophytosis of scalp or beard"^^xsd:string) AnnotationAssertion( "scalp ringworm"^^xsd:string) AnnotationAssertion( "tinea capitis due to Trichophyton rubrum"^^xsd:string) AnnotationAssertion( "tinea capitis profunda"^^xsd:string) AnnotationAssertion( "trichophytia profunda capitis"^^xsd:string) AnnotationAssertion( "trichophyton rubrum tinea capitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "dermatophytosis of scalp"^^xsd:string) AnnotationAssertion( "DOID:4337"^^xsd:string) AnnotationAssertion(rdfs:label "tinea capitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (variegate porphyria) AnnotationAssertion(Annotation( "MESH:D046350"^^xsd:string) "An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen."^^xsd:string) AnnotationAssertion( "MIM:176200"^^xsd:string) AnnotationAssertion( "GARD:7848"^^xsd:string) AnnotationAssertion( "MESH:D046350"^^xsd:string) AnnotationAssertion( "NCI:C85219"^^xsd:string) AnnotationAssertion( "Ppox Deficiency"^^xsd:string) AnnotationAssertion( "VP"^^xsd:string) AnnotationAssertion( "homozygous variegate porphyria"^^xsd:string) AnnotationAssertion( "porphyria variegata"^^xsd:string) AnnotationAssertion( "porphyria, South African type"^^xsd:string) AnnotationAssertion( "protocoproporphyria"^^xsd:string) AnnotationAssertion( "protoporphyrinogen oxidase deficiencies"^^xsd:string) AnnotationAssertion( "protoporphyrinogen oxidase deficiency"^^xsd:string) AnnotationAssertion( "VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4346"^^xsd:string) AnnotationAssertion(rdfs:label "variegate porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphocele) AnnotationAssertion(Annotation( "MESH:D008210"^^xsd:string) "Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury."^^xsd:string) AnnotationAssertion( "MESH:D008210"^^xsd:string) AnnotationAssertion( "MONDO:0002968"^^xsd:string) AnnotationAssertion( "NCI:C78442"^^xsd:string) AnnotationAssertion( "Lymphatic Cyst"^^xsd:string) AnnotationAssertion( "Lymphoceles"^^xsd:string) AnnotationAssertion( "Lymphocoele"^^xsd:string) AnnotationAssertion( "lymph cyst"^^xsd:string) AnnotationAssertion( "lymphatic cysts"^^xsd:string) AnnotationAssertion( "lymphocoeles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4347"^^xsd:string) AnnotationAssertion(rdfs:label "lymphocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ciliary body cancer) AnnotationAssertion( "ICD10CM:C69.4"^^xsd:string) AnnotationAssertion( "NCI:C4364"^^xsd:string) AnnotationAssertion( "NCI:C4766"^^xsd:string) AnnotationAssertion( "malignant neoplasm of ciliary body"^^xsd:string) AnnotationAssertion( "malignant tumor of ciliary body"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4766"^^xsd:string) "malignant tumor of the Ciliary body"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126998003"^^xsd:string) "neoplasm of ciliary body"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4364"^^xsd:string) "tumor of the Ciliary body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4352"^^xsd:string) AnnotationAssertion(rdfs:label "ciliary body cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ciliary body disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35695216/"^^xsd:string) "An iris disease that is located_in the ciliary body. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C35775"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4353"^^xsd:string) AnnotationAssertion(rdfs:label "ciliary body disease"^^xsd:string) SubClassOf( ) # Class: (amelanotic melanoma) AnnotationAssertion(Annotation( "MESH:D018328"^^xsd:string) "An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001937"^^xsd:string) AnnotationAssertion( "ICDO:8730/3"^^xsd:string) AnnotationAssertion( "MESH:D018328"^^xsd:string) AnnotationAssertion( "NCI:C3802"^^xsd:string) AnnotationAssertion( "amelanotic melanomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4359"^^xsd:string) AnnotationAssertion(rdfs:label "amelanotic melanoma"^^xsd:string) SubClassOf( ) # Class: (posterior mediastinum cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C38.2"^^xsd:string) AnnotationAssertion( "ICD9CM:164.3"^^xsd:string) AnnotationAssertion( "RDO:9005080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:436"^^xsd:string) AnnotationAssertion(rdfs:label "posterior mediastinum cancer"^^xsd:string) SubClassOf( ) # Class: (epithelioid cell melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8771/3"^^xsd:string) AnnotationAssertion( "NCI:C4236"^^xsd:string) AnnotationAssertion( "RDO:9001852"^^xsd:string) AnnotationAssertion( "epithelioid cell melanoma (morphologic abnormality)"^^xsd:string) AnnotationAssertion( "epithelioid melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4360"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid cell melanoma"^^xsd:string) SubClassOf( ) # Class: (cervical cancer) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/cervicalcancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Cervical_cancer"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=444973"^^xsd:string) "A female reproductive organ cancer that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C53"^^xsd:string) AnnotationAssertion( "ICD9CM:180"^^xsd:string) AnnotationAssertion( "MONDO:0002974"^^xsd:string) AnnotationAssertion( "NCI:C2940"^^xsd:string) AnnotationAssertion( "NCI:C9311"^^xsd:string) AnnotationAssertion( "cancer of cervix"^^xsd:string) AnnotationAssertion( "cancer of the cervix"^^xsd:string) AnnotationAssertion( "cancer of the uterine cervix"^^xsd:string) AnnotationAssertion( "cervix cancer"^^xsd:string) AnnotationAssertion( "cervix cancers"^^xsd:string) AnnotationAssertion( "cervix uteri cancer"^^xsd:string) AnnotationAssertion( "uterine cervical cancer"^^xsd:string) AnnotationAssertion( "uterine cervical cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4362"^^xsd:string) AnnotationAssertion(rdfs:label "cervical cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant breast melanoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15845569"^^xsd:string) "A breast cancer that arises_from melanocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8410"^^xsd:string) AnnotationAssertion( "breast melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4364"^^xsd:string) AnnotationAssertion(rdfs:label "malignant breast melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (apparent mineralocorticoid excess syndrome) AnnotationAssertion(Annotation( "https://www.omim.org/entry/218030"^^xsd:string) "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0090121"^^xsd:string) AnnotationAssertion( "MIM:218030"^^xsd:string) AnnotationAssertion( "EFO:1000817"^^xsd:string) AnnotationAssertion( "GARD:433"^^xsd:string) AnnotationAssertion( "MESH:D043204"^^xsd:string) AnnotationAssertion( "NCI:C123231"^^xsd:string) AnnotationAssertion( "ORDO:320"^^xsd:string) AnnotationAssertion( "11-beta-hydroxysteroid dehydrogenase deficiency type 2"^^xsd:string) AnnotationAssertion( "AME"^^xsd:string) AnnotationAssertion( "AME1"^^xsd:string) AnnotationAssertion( "Ulick syndrome"^^xsd:string) AnnotationAssertion( "apparent mineralocorticoid excess"^^xsd:string) AnnotationAssertion( "cortisol 11-beta-ketoreductase deficiency"^^xsd:string) AnnotationAssertion( "syndrome of apparent mineralocorticoid excess"^^xsd:string) AnnotationAssertion( "apparent mineralocorticoid excess, mild"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4367"^^xsd:string) AnnotationAssertion(rdfs:label "apparent mineralocorticoid excess syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myasthenia gravis) AnnotationAssertion(Annotation( "https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-Sheet"^^xsd:string) "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254200"^^xsd:string) AnnotationAssertion( "EFO:0004991"^^xsd:string) AnnotationAssertion( "EFO:1001490"^^xsd:string) AnnotationAssertion( "GARD:7122"^^xsd:string) AnnotationAssertion( "ICD10CM:G70.0"^^xsd:string) AnnotationAssertion( "ICD10CM:G70.00"^^xsd:string) AnnotationAssertion( "ICD9CM:358.0"^^xsd:string) AnnotationAssertion( "ICD9CM:358.00"^^xsd:string) AnnotationAssertion( "MESH:D009157"^^xsd:string) AnnotationAssertion( "NCI:C60989"^^xsd:string) AnnotationAssertion( "generalized myasthenia gravis"^^xsd:string) AnnotationAssertion( "REFRACTORY MYASTHENIA GRAVIS"^^xsd:string) AnnotationAssertion( "late-onset myasthenia gravis"^^xsd:string) AnnotationAssertion( "ocular myasthenia gravis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:437"^^xsd:string) AnnotationAssertion(rdfs:label "myasthenia gravis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (stomach diverticulosis) AnnotationAssertion(Annotation( "MESH:D045724"^^xsd:string) "A pathological condition characterized by the presence of a number of GASTRIC DIVERTICULA in the STOMACH."^^xsd:string) AnnotationAssertion( "MESH:D045724"^^xsd:string) AnnotationAssertion( "gastric diverticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4370"^^xsd:string) AnnotationAssertion(rdfs:label "stomach diverticulosis"^^xsd:string) SubClassOf( ) # Class: (Schnitzler syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/schnitzler-syndrome/"^^xsd:string) Annotation( "https://www.nomidalliance.org/schnitzler.php"^^xsd:string) "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001165"^^xsd:string) AnnotationAssertion( "GARD:12390"^^xsd:string) AnnotationAssertion( "MESH:D019873"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4371"^^xsd:string) AnnotationAssertion(rdfs:label "Schnitzler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial embolism) AnnotationAssertion(Annotation( "MESH:D020766"^^xsd:string) "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES."^^xsd:string) AnnotationAssertion( "EFO:1000991"^^xsd:string) AnnotationAssertion( "ICD10CM:I66"^^xsd:string) AnnotationAssertion( "ICD9CM:434.1"^^xsd:string) AnnotationAssertion( "MESH:D020766"^^xsd:string) AnnotationAssertion( "Brain Emboli"^^xsd:string) AnnotationAssertion( "Brain Embolism"^^xsd:string) AnnotationAssertion( "Brain Embolus"^^xsd:string) AnnotationAssertion( "Cerebral Emboli"^^xsd:string) AnnotationAssertion( "Cerebral Embolism"^^xsd:string) AnnotationAssertion( "Cerebral Embolus"^^xsd:string) AnnotationAssertion( "Cerebral embolism with cerebral infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4372"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial embolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Silo filler's disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30879430/"^^xsd:string) Annotation( "https://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149"^^xsd:string) "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001182"^^xsd:string) AnnotationAssertion( "MESH:D012832"^^xsd:string) AnnotationAssertion( "MONDO:0006972"^^xsd:string) AnnotationAssertion( "silo filler disease"^^xsd:string) AnnotationAssertion( "silo fillers disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4374"^^xsd:string) AnnotationAssertion(rdfs:label "Silo filler's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (milk allergy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Milk_hypersensitivity"^^xsd:string) "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007369"^^xsd:string) AnnotationAssertion( "MESH:D016269"^^xsd:string) AnnotationAssertion( "Milk Hypersensitivities"^^xsd:string) AnnotationAssertion( "milk allergic reaction"^^xsd:string) AnnotationAssertion( "milk allergies"^^xsd:string) AnnotationAssertion( "milk hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4376"^^xsd:string) AnnotationAssertion(rdfs:label "milk allergy"^^xsd:string) SubClassOf( ) # Class: (egg allergy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergy#Foods"^^xsd:string) "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007248"^^xsd:string) AnnotationAssertion( "MESH:D021181"^^xsd:string) AnnotationAssertion( "NCI:C172313"^^xsd:string) AnnotationAssertion( "allergy to eggs"^^xsd:string) AnnotationAssertion( "egg allergies"^^xsd:string) AnnotationAssertion( "egg hypersensitivities"^^xsd:string) AnnotationAssertion( "egg hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4377"^^xsd:string) AnnotationAssertion(rdfs:label "egg allergy"^^xsd:string) SubClassOf( ) # Class: (peanut allergy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergy#Foods"^^xsd:string) "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007425"^^xsd:string) AnnotationAssertion( "MESH:D021183"^^xsd:string) AnnotationAssertion( "allergy to peanuts"^^xsd:string) AnnotationAssertion( "groundnut hypersensitivity"^^xsd:string) AnnotationAssertion( "peanut allergic reaction"^^xsd:string) AnnotationAssertion( "peanut allergies"^^xsd:string) AnnotationAssertion( "peanut hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4378"^^xsd:string) AnnotationAssertion(rdfs:label "peanut allergy"^^xsd:string) SubClassOf( ) # Class: (nut allergy) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Tree_nut_allergy"^^xsd:string) "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001066"^^xsd:string) AnnotationAssertion( "MESH:D021184"^^xsd:string) AnnotationAssertion( "NCI:C175521"^^xsd:string) AnnotationAssertion( "Nut Hypersensitivities"^^xsd:string) AnnotationAssertion( "Nut Hypersensitivity"^^xsd:string) AnnotationAssertion( "Tree Nut Allergies"^^xsd:string) AnnotationAssertion( "allergy to nuts"^^xsd:string) AnnotationAssertion( "nut allergic reaction"^^xsd:string) AnnotationAssertion( "nut allergies"^^xsd:string) AnnotationAssertion( "tree nut allergy"^^xsd:string) AnnotationAssertion( "tree nut hypersensitivities"^^xsd:string) AnnotationAssertion( "tree nut hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4379"^^xsd:string) AnnotationAssertion(rdfs:label "nut allergy"^^xsd:string) SubClassOf( ) # Class: (autoimmune disease of the nervous system) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21619947"^^xsd:string) "An autoimmune disease affecting the nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020274"^^xsd:string) AnnotationAssertion( "NCI:C99383"^^xsd:string) AnnotationAssertion( "Nervous System Immune Diseases"^^xsd:string) AnnotationAssertion( "autoimmune disorders of the nervous system"^^xsd:string) AnnotationAssertion( "autoimmune nervous system diseases"^^xsd:string) AnnotationAssertion( "autoimmune nervous system disorder"^^xsd:string) AnnotationAssertion( "nervous system autoimmune disorders"^^xsd:string) AnnotationAssertion( "nervous system immune disorders"^^xsd:string) AnnotationAssertion( "neurologic autoimmune disease"^^xsd:string) AnnotationAssertion( "neurologic autoimmune diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:438"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune disease of the nervous system"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbit alveolar rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31146616/"^^xsd:string) "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6247"^^xsd:string) AnnotationAssertion( "alveolar rhabdomyosarcoma of the orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4384"^^xsd:string) AnnotationAssertion(rdfs:label "orbit alveolar rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (papillary squamous carcinoma) AnnotationAssertion(Annotation( "http://www.sciencedirect.com/science/article/pii/S0090825803003299"^^xsd:string) "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4102"^^xsd:string) AnnotationAssertion( "RDO:9002371"^^xsd:string) AnnotationAssertion( "papillary epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4385"^^xsd:string) AnnotationAssertion(rdfs:label "papillary squamous carcinoma"^^xsd:string) SubClassOf( ) # Class: (myofibroma) AnnotationAssertion(Annotation( "MESH:D047708"^^xsd:string) "A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed)."^^xsd:string) AnnotationAssertion( "EFO:1000389"^^xsd:string) AnnotationAssertion( "ICDO:8824/0"^^xsd:string) AnnotationAssertion( "MESH:D047708"^^xsd:string) AnnotationAssertion( "NCI:C7052"^^xsd:string) AnnotationAssertion( "lipoleiomyoma"^^xsd:string) AnnotationAssertion( "myofibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4386"^^xsd:string) AnnotationAssertion(rdfs:label "myofibroma"^^xsd:string) SubClassOf( ) # Class: (bone peripheral neuroepithelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8776"^^xsd:string) AnnotationAssertion( "RDO:9003423"^^xsd:string) AnnotationAssertion( "osseous peripheral neuroepithelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4388"^^xsd:string) AnnotationAssertion(rdfs:label "bone peripheral neuroepithelioma"^^xsd:string) SubClassOf( ) # Class: (soft tissue peripheral neuroepithelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27471"^^xsd:string) AnnotationAssertion( "peripheral neuroectodermal tumor of soft tissues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4389"^^xsd:string) AnnotationAssertion(rdfs:label "soft tissue peripheral neuroepithelioma"^^xsd:string) SubClassOf( ) # Class: (neuromuscular junction disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuromuscular_junction_disease"^^xsd:string) "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020511"^^xsd:string) AnnotationAssertion( "Neuromuscular Junction Disorder"^^xsd:string) AnnotationAssertion( "Neuromuscular Junction Toxic Disorders"^^xsd:string) AnnotationAssertion( "Neuromuscular Transmission Disorder"^^xsd:string) AnnotationAssertion( "neuromuscular junction diseases"^^xsd:string) AnnotationAssertion( "neuromuscular junction disorders"^^xsd:string) AnnotationAssertion( "neuromuscular transmission disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:439"^^xsd:string) AnnotationAssertion(rdfs:label "neuromuscular junction disease"^^xsd:string) SubClassOf( ) # Class: (reticulohistiocytic granuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12967"^^xsd:string) AnnotationAssertion( "NCI:C3356"^^xsd:string) AnnotationAssertion( "reticulohistiocytoma"^^xsd:string) AnnotationAssertion( "reticulohistiocytomas"^^xsd:string) AnnotationAssertion( "solitary reticulohistiocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4394"^^xsd:string) AnnotationAssertion(rdfs:label "reticulohistiocytic granuloma"^^xsd:string) SubClassOf( ) # Class: (granulomatous dermatitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000705"^^xsd:string) AnnotationAssertion( "NCI:C3505"^^xsd:string) AnnotationAssertion( "RDO:9004258"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4397"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous dermatitis"^^xsd:string) SubClassOf( ) # Class: (pustulosis of palm and sole) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:L40.3"^^xsd:string) AnnotationAssertion( "NCI:C34888"^^xsd:string) AnnotationAssertion( "acropustulosis"^^xsd:string) AnnotationAssertion( "palmoplantar pustulosis"^^xsd:string) AnnotationAssertion( "pustular psoriasis of the palms and/or soles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4398"^^xsd:string) AnnotationAssertion(rdfs:label "pustulosis of palm and sole"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acneiform dermatitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000662"^^xsd:string) AnnotationAssertion( "NCI:C35277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4399"^^xsd:string) AnnotationAssertion(rdfs:label "acneiform dermatitis"^^xsd:string) SubClassOf( ) # Class: (neuromuscular disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html"^^xsd:string) "A neuropathy that affect the nerves that control the voluntary muscles. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001902"^^xsd:string) AnnotationAssertion( "ICD10CM:G70.9"^^xsd:string) AnnotationAssertion( "ICD9CM:358"^^xsd:string) AnnotationAssertion( "MESH:D009468"^^xsd:string) AnnotationAssertion( "NCI:C189005"^^xsd:string) AnnotationAssertion( "NEUROMUSCULAR DISORDER"^^xsd:string) AnnotationAssertion( "neuromuscular diseases"^^xsd:string) AnnotationAssertion( "Amyotonia Congenita"^^xsd:string) AnnotationAssertion( "Benign Fasciculation-Cramp Syndrome"^^xsd:string) AnnotationAssertion( "Benign Fasciculation-Cramp Syndromes"^^xsd:string) AnnotationAssertion( "Cramp Fasciculation Syndrome"^^xsd:string) AnnotationAssertion( "Cramp-Fasciculation Syndromes"^^xsd:string) AnnotationAssertion( "Foley Denny Brown Syndrome"^^xsd:string) AnnotationAssertion( "Oppenheim Disease"^^xsd:string) AnnotationAssertion( "Oppenheim's Disease"^^xsd:string) AnnotationAssertion( "Oppenheims Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:440"^^xsd:string) AnnotationAssertion(rdfs:label "neuromuscular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dermatosis papulosa nigra) AnnotationAssertion( "MIM:125600"^^xsd:string) AnnotationAssertion( "EFO:1000686"^^xsd:string) AnnotationAssertion( "ICD10CM:L82"^^xsd:string) AnnotationAssertion( "MESH:C562379"^^xsd:string) AnnotationAssertion( "NCI:C2984"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4400"^^xsd:string) AnnotationAssertion(rdfs:label "dermatosis papulosa nigra"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (occupational dermatitis) AnnotationAssertion(Annotation( "MESH:D009783"^^xsd:string) "A recurrent contact dermatitis caused by substances found in the work place."^^xsd:string) AnnotationAssertion( "EFO:1000744"^^xsd:string) AnnotationAssertion( "MESH:D009783"^^xsd:string) AnnotationAssertion( "NCI:C34859"^^xsd:string) AnnotationAssertion( "industrial dermatoses"^^xsd:string) AnnotationAssertion( "industrial dermatosis"^^xsd:string) AnnotationAssertion( "occupational allergic contact dermatitis"^^xsd:string) AnnotationAssertion( "occupational dermatitides"^^xsd:string) AnnotationAssertion( "occupational eczema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4404"^^xsd:string) AnnotationAssertion(rdfs:label "occupational dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spongiotic dermatitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000768"^^xsd:string) AnnotationAssertion( "NCI:C27037"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4406"^^xsd:string) AnnotationAssertion(rdfs:label "spongiotic dermatitis"^^xsd:string) SubClassOf( ) # Class: (phototoxic dermatitis) AnnotationAssertion(Annotation( "https://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis"^^xsd:string) "An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000753"^^xsd:string) AnnotationAssertion( "MESH:D017484"^^xsd:string) AnnotationAssertion( "NCI:C4816"^^xsd:string) AnnotationAssertion( "photosensitisation reaction"^^xsd:string) AnnotationAssertion( "photosensitive dermatitis"^^xsd:string) AnnotationAssertion( "photosensitiveness"^^xsd:string) AnnotationAssertion( "phototoxic contact dermatitides"^^xsd:string) AnnotationAssertion( "phototoxic contact dermatitis"^^xsd:string) AnnotationAssertion( "phototoxic dermatitides"^^xsd:string) AnnotationAssertion( "phototoxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4407"^^xsd:string) AnnotationAssertion(rdfs:label "phototoxic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (folliculitis) AnnotationAssertion(Annotation( "MESH:D005499"^^xsd:string) "Inflammation of follicles, primarily hair follicles."^^xsd:string) AnnotationAssertion( "EFO:1000702"^^xsd:string) AnnotationAssertion( "MESH:D005499"^^xsd:string) AnnotationAssertion( "NCI:C94408"^^xsd:string) AnnotationAssertion( "Folliculitides"^^xsd:string) AnnotationAssertion( "Sycoses"^^xsd:string) AnnotationAssertion( "Sycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4409"^^xsd:string) AnnotationAssertion(rdfs:label "folliculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hepatitis E) AnnotationAssertion(Annotation( "http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1"^^xsd:string) "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007303"^^xsd:string) AnnotationAssertion( "GARD:9541"^^xsd:string) AnnotationAssertion( "MESH:D016751"^^xsd:string) AnnotationAssertion( "ET-NANBH"^^xsd:string) AnnotationAssertion( "Epidemic Non A, Non B Hepatitis"^^xsd:string) AnnotationAssertion( "Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted"^^xsd:string) AnnotationAssertion( "Water-Borne Hepatitides"^^xsd:string) AnnotationAssertion( "enterically transmitted non A, non B hepatitis"^^xsd:string) AnnotationAssertion( "water-borne hepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4411"^^xsd:string) AnnotationAssertion(rdfs:label "hepatitis E"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervix melanoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25046205"^^xsd:string) "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40239"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4413"^^xsd:string) AnnotationAssertion(rdfs:label "cervix melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrous histiocytoma) AnnotationAssertion(Annotation( "MESH:D018219"^^xsd:string) "A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)"^^xsd:string) AnnotationAssertion( "MESH:D018219"^^xsd:string) AnnotationAssertion( "NCI:C3739"^^xsd:string) AnnotationAssertion( "Benign Fibrous Histiocytomas"^^xsd:string) AnnotationAssertion( "Cutaneous Histiocytoma"^^xsd:string) AnnotationAssertion( "Cutaneous Histiocytomas"^^xsd:string) AnnotationAssertion( "Dermatofibroma"^^xsd:string) AnnotationAssertion( "Dermatofibromas"^^xsd:string) AnnotationAssertion( "Fibrous Histiocytomas"^^xsd:string) AnnotationAssertion( "Histiocytoma, Benign Fibrous"^^xsd:string) AnnotationAssertion( "fibroxanthoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4415"^^xsd:string) AnnotationAssertion(rdfs:label "fibrous histiocytoma"^^xsd:string) SubClassOf( ) # Class: (cutaneous fibrous histiocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000885"^^xsd:string) AnnotationAssertion( "GARD:9807"^^xsd:string) AnnotationAssertion( "NCI:C6801"^^xsd:string) AnnotationAssertion( "NCI:C7749"^^xsd:string) AnnotationAssertion( "NCI:C8402"^^xsd:string) AnnotationAssertion( "benign cutaneous fibrous histiocytoma"^^xsd:string) AnnotationAssertion( "dermatofibroma"^^xsd:string) AnnotationAssertion( "fibrohistiocytic tumor"^^xsd:string) AnnotationAssertion( "fibrous histiocytoma of skin"^^xsd:string) AnnotationAssertion( "fibrous xanthoma of skin"^^xsd:string) AnnotationAssertion( "pleomorphic fibroma"^^xsd:string) AnnotationAssertion( "sclerosing angioma"^^xsd:string) AnnotationAssertion( "sclerosing angioma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4418"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous fibrous histiocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign deep fibrous histiocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6492"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4419"^^xsd:string) AnnotationAssertion(rdfs:label "benign deep fibrous histiocytoma"^^xsd:string) SubClassOf( ) # Class: (malignant adenofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40035"^^xsd:string) AnnotationAssertion( "RDO:9003283"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4422"^^xsd:string) AnnotationAssertion(rdfs:label "malignant adenofibroma"^^xsd:string) SubClassOf( ) # Class: (sea-blue histiocytosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sea-blue_histiocytosis"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis"^^xsd:string) "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. (DO)"^^xsd:string) AnnotationAssertion( "MIM:269600"^^xsd:string) AnnotationAssertion( "EFO:1001170"^^xsd:string) AnnotationAssertion( "MESH:D012618"^^xsd:string) AnnotationAssertion( "NCI:C85062"^^xsd:string) AnnotationAssertion( "ORDO:158029"^^xsd:string) AnnotationAssertion( "sea-blue histiocyte disease"^^xsd:string) AnnotationAssertion( "sea-blue histiocyte diseases"^^xsd:string) AnnotationAssertion( "sea-blue histiocyte syndrome"^^xsd:string) AnnotationAssertion( "sea-blue histiocyte syndromes"^^xsd:string) AnnotationAssertion( "sea-blue histiocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOE2 Isoforms"^^xsd:string) AnnotationAssertion( "DOID:4423"^^xsd:string) AnnotationAssertion(rdfs:label "sea-blue histiocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (juvenile xanthogranuloma) AnnotationAssertion(Annotation( "MESH:D014972"^^xsd:string) Annotation( "https://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK526103/"^^xsd:string) "A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000311"^^xsd:string) AnnotationAssertion( "ICDO:9749/1"^^xsd:string) AnnotationAssertion( "MESH:D014972"^^xsd:string) AnnotationAssertion( "NCI:C3451"^^xsd:string) AnnotationAssertion( "Juvenile Xanthoma"^^xsd:string) AnnotationAssertion( "Juvenile Xanthomas"^^xsd:string) AnnotationAssertion( "Nevoxanthoendothelioma"^^xsd:string) AnnotationAssertion( "Nevoxanthoendotheliomas"^^xsd:string) AnnotationAssertion( "juvenile xanthogranulomas"^^xsd:string) AnnotationAssertion( "multiple eruptive juvenile xanthogranuloma"^^xsd:string) AnnotationAssertion( "naevoxanthoendothelioma"^^xsd:string) AnnotationAssertion( "xanthoma neviforme"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4424"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile xanthogranuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dyslexia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dyslexia"^^xsd:string) "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. (DO)"^^xsd:string) AnnotationAssertion( "MIM:127700"^^xsd:string) AnnotationAssertion( "MIM:300509"^^xsd:string) AnnotationAssertion( "MIM:600202"^^xsd:string) AnnotationAssertion( "MIM:604254"^^xsd:string) AnnotationAssertion( "MIM:606616"^^xsd:string) AnnotationAssertion( "MIM:606896"^^xsd:string) AnnotationAssertion( "MIM:608995"^^xsd:string) AnnotationAssertion( "DNAAF4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0005424"^^xsd:string) AnnotationAssertion( "ICD10CM:F81.0"^^xsd:string) AnnotationAssertion( "MESH:D004410"^^xsd:string) AnnotationAssertion( "NCI:C96410"^^xsd:string) AnnotationAssertion( "Developmental Dyslexia"^^xsd:string) AnnotationAssertion( "Developmental Reading Disability"^^xsd:string) AnnotationAssertion( "Developmental Reading Disorder"^^xsd:string) AnnotationAssertion( "developmental dyslexias"^^xsd:string) AnnotationAssertion( "developmental reading disabilities"^^xsd:string) AnnotationAssertion( "developmental reading disorders"^^xsd:string) AnnotationAssertion( "dyslexias"^^xsd:string) AnnotationAssertion( "word blindness"^^xsd:string) AnnotationAssertion( "word blindness, congenital"^^xsd:string) AnnotationAssertion( "specific reading disability, 1"^^xsd:string) AnnotationAssertion( "specific reading disability, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DYX1"^^xsd:string) AnnotationAssertion( "DYX2"^^xsd:string) AnnotationAssertion( "DYX3"^^xsd:string) AnnotationAssertion( "DYX4"^^xsd:string) AnnotationAssertion( "DYX5"^^xsd:string) AnnotationAssertion( "DYX6"^^xsd:string) AnnotationAssertion( "DYX7"^^xsd:string) AnnotationAssertion( "DYX8"^^xsd:string) AnnotationAssertion( "DYX9"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "dyslexia, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "DOID:4428"^^xsd:string) AnnotationAssertion(rdfs:label "dyslexia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (somatostatinoma) AnnotationAssertion(Annotation( "MESH:D013005"^^xsd:string) "A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS."^^xsd:string) AnnotationAssertion( "EFO:1001187"^^xsd:string) AnnotationAssertion( "GARD:4900"^^xsd:string) AnnotationAssertion( "ICDO:8156/3"^^xsd:string) AnnotationAssertion( "MESH:D013005"^^xsd:string) AnnotationAssertion( "NCI:C3379"^^xsd:string) AnnotationAssertion( "somatostatin cell neoplasm"^^xsd:string) AnnotationAssertion( "somatostatin cell tumour"^^xsd:string) AnnotationAssertion( "somatostatinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4430"^^xsd:string) AnnotationAssertion(rdfs:label "somatostatinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic somatostatinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001964"^^xsd:string) AnnotationAssertion( "NCI:C8006"^^xsd:string) AnnotationAssertion( "NCI:C95595"^^xsd:string) AnnotationAssertion( "RDO:9004588"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8006"^^xsd:string) "pancreatic Somatostatin cell tumor"^^xsd:string) AnnotationAssertion( "pancreatic delta cell somatostatin producing neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4432"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic somatostatinoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic delta cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C28396"^^xsd:string) AnnotationAssertion( "RDO:9004589"^^xsd:string) AnnotationAssertion( "pancreatic delta cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4433"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic delta cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (small intestine neuroendocrine neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000308"^^xsd:string) AnnotationAssertion( "EFO:1001928"^^xsd:string) AnnotationAssertion( "NCI:C5803"^^xsd:string) AnnotationAssertion( "small intestine neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "Jejunal Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "grade 1 neuroendocrine neoplasm of jejunum"^^xsd:string) AnnotationAssertion( "jejunal NET G1"^^xsd:string) AnnotationAssertion( "jejunum NET G1"^^xsd:string) AnnotationAssertion( "jejunum neuroendocrine neoplasm G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4434"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cavernous sinus meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5268"^^xsd:string) AnnotationAssertion( "meningioma of the cavernous sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4435"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous sinus meningioma"^^xsd:string) SubClassOf( ) # Class: (anterior cranial fossa meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5286"^^xsd:string) AnnotationAssertion( "meningioma of the anterior fossa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4436"^^xsd:string) AnnotationAssertion(rdfs:label "anterior cranial fossa meningioma"^^xsd:string) SubClassOf( ) # Class: (skull base meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5272"^^xsd:string) AnnotationAssertion( "meningioma of the skull base"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4437"^^xsd:string) AnnotationAssertion(rdfs:label "skull base meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system germinoma) AnnotationAssertion( "RDO:9003538"^^xsd:string) AnnotationAssertion( "GARD:2005"^^xsd:string) AnnotationAssertion( "NCI:C7009"^^xsd:string) AnnotationAssertion( "germinoma of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4438"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system germinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system germ cell tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25233069"^^xsd:string) "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5461"^^xsd:string) AnnotationAssertion( "RDO:9003450"^^xsd:string) AnnotationAssertion( "central nervous system germ cell tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5461"^^xsd:string) "germ cell tumor of the CNS"^^xsd:string) AnnotationAssertion( "germ cell tumour of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4439"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system germ cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seminoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46577"^^xsd:string) "A germinoma that has_material_basis_in cells that make sperm and eggs. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9061/3"^^xsd:string) AnnotationAssertion( "MESH:D018239"^^xsd:string) AnnotationAssertion( "pure seminoma"^^xsd:string) AnnotationAssertion( "seminomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4440"^^xsd:string) AnnotationAssertion(rdfs:label "seminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dysgerminoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string) "A germ cell cancer that derives_from cells that give rise to egg cells. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:9060/3"^^xsd:string) AnnotationAssertion( "MESH:D004407"^^xsd:string) AnnotationAssertion( "NCI:C2996"^^xsd:string) AnnotationAssertion( "disgerminoma"^^xsd:string) AnnotationAssertion( "disgerminomas"^^xsd:string) AnnotationAssertion( "dysgerminomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4441"^^xsd:string) AnnotationAssertion(rdfs:label "dysgerminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical alveolar soft part sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2479947"^^xsd:string) "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40225"^^xsd:string) AnnotationAssertion( "RDO:9002073"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4442"^^xsd:string) AnnotationAssertion(rdfs:label "cervical alveolar soft part sarcoma"^^xsd:string) SubClassOf( ) # Class: (cystoid macular edema) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:153880"^^xsd:string) AnnotationAssertion( "NCI:C34794"^^xsd:string) AnnotationAssertion( "RDO:9004418"^^xsd:string) AnnotationAssertion( "CYMD"^^xsd:string) AnnotationAssertion( "Cystoid Macular Dystrophy"^^xsd:string) AnnotationAssertion( "DCMD"^^xsd:string) AnnotationAssertion( "MDDC"^^xsd:string) AnnotationAssertion( "Macular Dystrophy, Dominant Cystoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4447"^^xsd:string) AnnotationAssertion(rdfs:label "cystoid macular edema"^^xsd:string) SubClassOf( ) # Class: (macular degeneration) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1"^^xsd:string) "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009201"^^xsd:string) AnnotationAssertion( "EFO:0020937"^^xsd:string) AnnotationAssertion( "MESH:D008268"^^xsd:string) AnnotationAssertion( "MIM:620762"^^xsd:string) AnnotationAssertion( "NCI:C123330"^^xsd:string) AnnotationAssertion( "ORDO:279"^^xsd:string) AnnotationAssertion( "MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION"^^xsd:string) AnnotationAssertion( "macular degeneration of retina"^^xsd:string) AnnotationAssertion( "macular degenerations"^^xsd:string) AnnotationAssertion( "macular dystrophies"^^xsd:string) AnnotationAssertion( "macular dystrophy"^^xsd:string) AnnotationAssertion( "inherited macular dystrophy"^^xsd:string) AnnotationAssertion( "myopic macular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4448"^^xsd:string) AnnotationAssertion(rdfs:label "macular degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (macular retinal edema) AnnotationAssertion(Annotation( "MESH:D008269"^^xsd:string) "Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)"^^xsd:string) AnnotationAssertion( "RDO:0006050"^^xsd:string) AnnotationAssertion( "MESH:D008269"^^xsd:string) AnnotationAssertion( "NCI:C35468"^^xsd:string) AnnotationAssertion( "Central Retinal Edema, Cystoid"^^xsd:string) AnnotationAssertion( "Irvine Gass Syndrome"^^xsd:string) AnnotationAssertion( "macular edema"^^xsd:string) AnnotationAssertion( "macular oedema"^^xsd:string) AnnotationAssertion( "macular retinal oedema"^^xsd:string) AnnotationAssertion( "Cystoid Macular Edema, Postoperative"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4449"^^xsd:string) AnnotationAssertion(rdfs:label "macular retinal edema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartter disease) AnnotationAssertion(Annotation( "MESH:D001477"^^xsd:string) "A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS."^^xsd:string) AnnotationAssertion( "GARD:5893"^^xsd:string) AnnotationAssertion( "ICD10CM:E26.81"^^xsd:string) AnnotationAssertion( "ICD9CM:255.13"^^xsd:string) AnnotationAssertion( "MESH:D001477"^^xsd:string) AnnotationAssertion( "MIM:PS601678"^^xsd:string) AnnotationAssertion( "NCI:C34412"^^xsd:string) AnnotationAssertion( "Bartter syndrome"^^xsd:string) AnnotationAssertion( "Bartter's Disease"^^xsd:string) AnnotationAssertion( "Bartter's syndrome"^^xsd:string) AnnotationAssertion( "Bartters Disease"^^xsd:string) AnnotationAssertion( "Bartters syndrome"^^xsd:string) AnnotationAssertion( "aldosteronism with hyperplasia of the adrenal cortex"^^xsd:string) AnnotationAssertion( "juxtaglomerular hyperplasia with secondary aldosteronism"^^xsd:string) AnnotationAssertion( "ANTENATAL BARTTER SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:445"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renal_cell_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=661352"^^xsd:string) "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. (DO)"^^xsd:string) AnnotationAssertion( "MIM:144700"^^xsd:string) AnnotationAssertion( "EFO:0000681"^^xsd:string) AnnotationAssertion( "EFO:0005708"^^xsd:string) AnnotationAssertion( "EFO:1000603"^^xsd:string) AnnotationAssertion( "GARD:13215"^^xsd:string) AnnotationAssertion( "ICDO:8312/3"^^xsd:string) AnnotationAssertion( "MESH:D002292"^^xsd:string) AnnotationAssertion( "NCI:C9385"^^xsd:string) AnnotationAssertion( "ORDO:217071"^^xsd:string) AnnotationAssertion( "Grawitz tumor"^^xsd:string) AnnotationAssertion( "RCC"^^xsd:string) AnnotationAssertion( "adenocarcinoma of kidney"^^xsd:string) AnnotationAssertion( "chromophil renal cell carcinoma"^^xsd:string) AnnotationAssertion( "hypernephroid carcinoma"^^xsd:string) AnnotationAssertion( "hypernephroid carcinomas"^^xsd:string) AnnotationAssertion( "hypernephroma"^^xsd:string) AnnotationAssertion( "hypernephromas"^^xsd:string) AnnotationAssertion( "nephroid carcinoma"^^xsd:string) AnnotationAssertion( "nephroid carcinomas"^^xsd:string) AnnotationAssertion( "renal adenocarcinoma"^^xsd:string) AnnotationAssertion( "renal cell adenocarcinoma"^^xsd:string) AnnotationAssertion( "renal cell adenocarcinomas"^^xsd:string) AnnotationAssertion( "renal cell cancer"^^xsd:string) AnnotationAssertion( "renal cell cancers"^^xsd:string) AnnotationAssertion( "renal cell carcinomas"^^xsd:string) AnnotationAssertion( "ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS"^^xsd:string) AnnotationAssertion( "NRC1"^^xsd:string) AnnotationAssertion( "Unclassified Renal Cell Carcinoma"^^xsd:string) AnnotationAssertion( "renal cell carcinoma with paraneoplastic erythrocytosis"^^xsd:string) AnnotationAssertion( "renal cell carcinoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4450"^^xsd:string) AnnotationAssertion(rdfs:label "renal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Renal_cell_carcinoma"^^xsd:string) "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002890"^^xsd:string) AnnotationAssertion( "NCI:C124802"^^xsd:string) AnnotationAssertion( "NCI:C9384"^^xsd:string) AnnotationAssertion( "carcinoma of kidney"^^xsd:string) AnnotationAssertion( "kidney carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4451"^^xsd:string) AnnotationAssertion(rdfs:label "renal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood kidney cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8312/3"^^xsd:string) AnnotationAssertion( "NCI:C6568"^^xsd:string) AnnotationAssertion( "RDO:9001906"^^xsd:string) AnnotationAssertion( "pediatric renal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4454"^^xsd:string) AnnotationAssertion(rdfs:label "childhood kidney cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (hereditary renal cell carcinoma) AnnotationAssertion( "GARD:9571"^^xsd:string) AnnotationAssertion( "MESH:C536851"^^xsd:string) AnnotationAssertion( "familial renal carcinoma"^^xsd:string) AnnotationAssertion( "familial renal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4455"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (primary hyperaldosteronism) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Primary_aldosteronism"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510"^^xsd:string) "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009452"^^xsd:string) AnnotationAssertion( "ICD10CM:E24"^^xsd:string) AnnotationAssertion( "ICD10CM:E26"^^xsd:string) AnnotationAssertion( "ICD9CM:255.0"^^xsd:string) AnnotationAssertion( "ICD9CM:255.1"^^xsd:string) AnnotationAssertion( "MESH:D006929"^^xsd:string) AnnotationAssertion( "MIM:PS103900"^^xsd:string) AnnotationAssertion( "MONDO:0001422"^^xsd:string) AnnotationAssertion( "NCI:C113213"^^xsd:string) AnnotationAssertion( "NCI:C2969"^^xsd:string) AnnotationAssertion( "ORDO:235936"^^xsd:string) AnnotationAssertion( "Cushing syndrome"^^xsd:string) AnnotationAssertion( "Cushing's syndrome"^^xsd:string) AnnotationAssertion( "aldosteronism"^^xsd:string) AnnotationAssertion( "hyperaldosteronism"^^xsd:string) AnnotationAssertion( "primary aldosteronism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:446"^^xsd:string) AnnotationAssertion(rdfs:label "primary hyperaldosteronism"^^xsd:string) SubClassOf( ) # Class: (multilocular clear cell renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4524"^^xsd:string) AnnotationAssertion( "ORDO:319287"^^xsd:string) AnnotationAssertion( "cystadenocarcinoma of kidney"^^xsd:string) AnnotationAssertion( "renal cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4463"^^xsd:string) AnnotationAssertion(rdfs:label "multilocular clear cell renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (collecting duct carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Collecting_duct_carcinoma"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26684811"^^xsd:string) "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003016"^^xsd:string) AnnotationAssertion( "EFO:1000314"^^xsd:string) AnnotationAssertion( "GARD:9573"^^xsd:string) AnnotationAssertion( "ICDO:8319/3"^^xsd:string) AnnotationAssertion( "NCI:C6194"^^xsd:string) AnnotationAssertion( "RDO:9001908"^^xsd:string) AnnotationAssertion( "Bellini duct carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of renal collecting duct"^^xsd:string) AnnotationAssertion( "collecting duct carcinoma (kidney)"^^xsd:string) AnnotationAssertion( "collecting duct carcinoma of the kidney"^^xsd:string) AnnotationAssertion( "collecting duct carcinomas"^^xsd:string) AnnotationAssertion( "renal Medullary carcinoma"^^xsd:string) AnnotationAssertion( "renal carcinoma, collecting duct type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4464"^^xsd:string) AnnotationAssertion(rdfs:label "collecting duct carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary renal cell carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/kidneypapillary"^^xsd:string) Annotation( "http://www.omim.org/entry/605074"^^xsd:string) "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000640"^^xsd:string) AnnotationAssertion( "GARD:9572"^^xsd:string) AnnotationAssertion( "MIM:605074"^^xsd:string) AnnotationAssertion( "NCI:C27890"^^xsd:string) AnnotationAssertion( "NCI:C6975"^^xsd:string) AnnotationAssertion( "RCCP1"^^xsd:string) AnnotationAssertion( "chromophil carcinoma of kidney"^^xsd:string) AnnotationAssertion( "papillary kidney carcinoma"^^xsd:string) AnnotationAssertion( "papillary renal cell carcinoma 1"^^xsd:string) AnnotationAssertion( "sporadic papillary renal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4465"^^xsd:string) AnnotationAssertion(rdfs:label "papillary renal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (clear cell renal cell carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45063"^^xsd:string) Annotation( "https://cancergenome.nih.gov/cancersselected/kidneyclearcell"^^xsd:string) "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000349"^^xsd:string) AnnotationAssertion( "EFO:0000376"^^xsd:string) AnnotationAssertion( "EFO:0000682"^^xsd:string) AnnotationAssertion( "GARD:9574"^^xsd:string) AnnotationAssertion( "MESH:C538445"^^xsd:string) AnnotationAssertion( "MONDO:0005005"^^xsd:string) AnnotationAssertion( "NCI:C4033"^^xsd:string) AnnotationAssertion( "ORDO:319276"^^xsd:string) AnnotationAssertion( "ccRCC"^^xsd:string) AnnotationAssertion( "clear cell RCC"^^xsd:string) AnnotationAssertion( "clear cell carcinoma of kidney"^^xsd:string) AnnotationAssertion( "clear cell kidney carcinoma"^^xsd:string) AnnotationAssertion( "conventional (Clear cell) renal cell carcinoma"^^xsd:string) AnnotationAssertion( "conventional renal cell carcinoma"^^xsd:string) AnnotationAssertion( "cystic-multilocular variant"^^xsd:string) AnnotationAssertion( "renal clear cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "clear-cell metastatic renal cell carcinoma"^^xsd:string) AnnotationAssertion( "DOID:4467"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000348"^^xsd:string) AnnotationAssertion( "EFO:0006719"^^xsd:string) AnnotationAssertion( "ICDO:8310/3"^^xsd:string) AnnotationAssertion( "MESH:D018262"^^xsd:string) AnnotationAssertion( "NCI:C36815"^^xsd:string) AnnotationAssertion( "NCI:C3766"^^xsd:string) AnnotationAssertion( "NCI:C4072"^^xsd:string) AnnotationAssertion( "NCI:C4156"^^xsd:string) AnnotationAssertion( "Wolffian duct neoplasm"^^xsd:string) AnnotationAssertion( "clear cell adenocarcinomas"^^xsd:string) AnnotationAssertion( "malignant mesonephroma"^^xsd:string) AnnotationAssertion( "mesonephric adenocarcinoma"^^xsd:string) AnnotationAssertion( "mesonephroid clear cell carcinoma"^^xsd:string) AnnotationAssertion( "water-clear cell adenocarcinoma"^^xsd:string) AnnotationAssertion( "water-clear cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4468"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal tubular transport disease) AnnotationAssertion(Annotation( "MESH:D015499"^^xsd:string) "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES."^^xsd:string) AnnotationAssertion( "EFO:0009566"^^xsd:string) AnnotationAssertion( "EFO:1000647"^^xsd:string) AnnotationAssertion( "MESH:D015499"^^xsd:string) AnnotationAssertion( "Kidney Tubular Transport, Inborn Error"^^xsd:string) AnnotationAssertion( "Kidney Tubular Transport, Inborn Errors"^^xsd:string) AnnotationAssertion( "Renal Tubular Transport Errors"^^xsd:string) AnnotationAssertion( "inborn renal tubular transport disorder"^^xsd:string) AnnotationAssertion( "renal tubular transport, inborn error"^^xsd:string) AnnotationAssertion( "renal tubular transport, inborn errors"^^xsd:string) AnnotationAssertion( "renal tubule disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:447"^^xsd:string) AnnotationAssertion(rdfs:label "renal tubular transport disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chromophobe renal cell carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma"^^xsd:string) "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000335"^^xsd:string) AnnotationAssertion( "GARD:6064"^^xsd:string) AnnotationAssertion( "NCI:C4146"^^xsd:string) AnnotationAssertion( "RDO:9001911"^^xsd:string) AnnotationAssertion( "Chromophobe carcinoma of kidney"^^xsd:string) AnnotationAssertion( "chromophobe adenocarcinoma"^^xsd:string) AnnotationAssertion( "kidney chromophobe"^^xsd:string) AnnotationAssertion( "renal cell carcinoma, chromophobe cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4471"^^xsd:string) AnnotationAssertion(rdfs:label "chromophobe renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (mucinous tubular and spindle renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39807"^^xsd:string) AnnotationAssertion( "RDO:9001912"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4472"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous tubular and spindle renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27893"^^xsd:string) AnnotationAssertion( "RDO:9001913"^^xsd:string) AnnotationAssertion( "renal cell carcinoma, spindle cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4473"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (pseudohypoaldosteronism) AnnotationAssertion(Annotation( "MESH:D011546"^^xsd:string) "A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "MESH:D011546"^^xsd:string) AnnotationAssertion( "MIM:PS145260"^^xsd:string) AnnotationAssertion( "MIM:PS177735"^^xsd:string) AnnotationAssertion( "NCI:C85034"^^xsd:string) AnnotationAssertion( "Familial Hypertensive Hyperkalemia"^^xsd:string) AnnotationAssertion( "Familial Hypertensive Hyperkalemias"^^xsd:string) AnnotationAssertion( "Pseudohypoaldosteronisms"^^xsd:string) AnnotationAssertion( "familial hyperpotassemia and hypertension"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism type 1"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism type 2"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism type I"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4479"^^xsd:string) AnnotationAssertion(rdfs:label "pseudohypoaldosteronism"^^xsd:string) SubClassOf( ) # Class: (achondroplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achondroplasia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/achondroplasia"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Achondroplasia"^^xsd:string) "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004121"^^xsd:string) AnnotationAssertion( "GARD:8173"^^xsd:string) AnnotationAssertion( "ICD10CM:Q77.4"^^xsd:string) AnnotationAssertion( "MESH:D000130"^^xsd:string) AnnotationAssertion( "MIM:100800"^^xsd:string) AnnotationAssertion( "MONDO:0007037"^^xsd:string) AnnotationAssertion( "NCI:C34345"^^xsd:string) AnnotationAssertion( "ORDO:15"^^xsd:string) AnnotationAssertion( "ACH"^^xsd:string) AnnotationAssertion( "achondroplasias"^^xsd:string) AnnotationAssertion( "achondroplastic physique"^^xsd:string) AnnotationAssertion( "chondrodystrophia"^^xsd:string) AnnotationAssertion( "osteosclerosis congenita"^^xsd:string) AnnotationAssertion( "skeleton-skin-brain syndrome"^^xsd:string) AnnotationAssertion( "skeleton-skin-brain syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4480"^^xsd:string) AnnotationAssertion(rdfs:label "achondroplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (allergic rhinitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Allergic_rhinitis"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis"^^xsd:string) "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607154"^^xsd:string) AnnotationAssertion( "EFO:0005854"^^xsd:string) AnnotationAssertion( "MESH:D065631"^^xsd:string) AnnotationAssertion( "NCI:C34987"^^xsd:string) AnnotationAssertion( "NCI:C79532"^^xsd:string) AnnotationAssertion( "ALRH"^^xsd:string) AnnotationAssertion( "allergic rhinitides"^^xsd:string) AnnotationAssertion( "atopic rhinitis"^^xsd:string) AnnotationAssertion( "non-seasonal allergic rhinitis"^^xsd:string) AnnotationAssertion( "perenial allergic rhinitis"^^xsd:string) AnnotationAssertion( "pollenosis"^^xsd:string) AnnotationAssertion( "hay fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4481"^^xsd:string) AnnotationAssertion(rdfs:label "allergic rhinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rhinitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string) "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008521"^^xsd:string) AnnotationAssertion( "MESH:D012220"^^xsd:string) AnnotationAssertion( "NCI:C34986"^^xsd:string) AnnotationAssertion( "nasal catarrh"^^xsd:string) AnnotationAssertion( "rhinitides"^^xsd:string) AnnotationAssertion( "runny nose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4483"^^xsd:string) AnnotationAssertion(rdfs:label "rhinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant biphasic mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000124"^^xsd:string) AnnotationAssertion( "MONDO:0006109"^^xsd:string) AnnotationAssertion( "NCI:C4282"^^xsd:string) AnnotationAssertion( "biphasic mesothelioma"^^xsd:string) AnnotationAssertion( "mixed mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4486"^^xsd:string) AnnotationAssertion(rdfs:label "malignant biphasic mesothelioma"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000521"^^xsd:string) AnnotationAssertion( "NCI:C45655"^^xsd:string) AnnotationAssertion( "malignant fibrous mesothelioma"^^xsd:string) AnnotationAssertion( "spindled mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4488"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid mesothelioma"^^xsd:string) SubClassOf( ) # Class: (malignant epithelial mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006452"^^xsd:string) AnnotationAssertion( "EFO:1000351"^^xsd:string) AnnotationAssertion( "EFO:1000484"^^xsd:string) AnnotationAssertion( "NCI:C7985"^^xsd:string) AnnotationAssertion( "malignant epithelioid mesothelioma"^^xsd:string) AnnotationAssertion( "Pleural Epithelioid Mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4489"^^xsd:string) AnnotationAssertion(rdfs:label "malignant epithelial mesothelioma"^^xsd:string) SubClassOf( ) # Class: (malignant peritoneal solitary fibrous tumor) AnnotationAssertion(Annotation( "https://www.medscimonit.com/abstract/index/idArt/459077/act/3"^^xsd:string) "A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "malignant peritoneal solitary fibrous tumour"^^xsd:string) AnnotationAssertion( "pleural and peritoneal solitary fibrous tumor"^^xsd:string) AnnotationAssertion( "pleural and peritoneal solitary fibrous tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4490"^^xsd:string) AnnotationAssertion(rdfs:label "malignant peritoneal solitary fibrous tumor"^^xsd:string) SubClassOf( ) # Class: (persian gulf syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gulf_War_syndrome"^^xsd:string) "A syndrome affecting returning military veterans and civilian workers of the Gulf War. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007430"^^xsd:string) AnnotationAssertion( "MESH:D018923"^^xsd:string) AnnotationAssertion( "gulf war syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4491"^^xsd:string) AnnotationAssertion(rdfs:label "persian gulf syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (avian influenza) AnnotationAssertion(Annotation( "http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza"^^xsd:string) "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005222"^^xsd:string) AnnotationAssertion( "ICD10CM:J09.X"^^xsd:string) AnnotationAssertion( "MESH:D005585"^^xsd:string) AnnotationAssertion( "Avian Flu"^^xsd:string) AnnotationAssertion( "Fowl Plague"^^xsd:string) AnnotationAssertion( "avian influenzas"^^xsd:string) AnnotationAssertion( "bird flu"^^xsd:string) AnnotationAssertion( "influenza in bird"^^xsd:string) AnnotationAssertion( "influenza in birds"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4492"^^xsd:string) AnnotationAssertion(rdfs:label "avian influenza"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myotonic disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myotonic_dystrophy"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/myotonic-dystrophy"^^xsd:string) Annotation( "http://www.genome.gov/25521207"^^xsd:string) "A muscular dystrophy that is characterized by progressive muscle wasting and weakness. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009223"^^xsd:string) AnnotationAssertion( "PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA"^^xsd:string) AnnotationAssertion( "ICD9CM:359.2"^^xsd:string) AnnotationAssertion( "MESH:D020967"^^xsd:string) AnnotationAssertion( "MIM:PS160900"^^xsd:string) AnnotationAssertion( "NCI:C84913"^^xsd:string) AnnotationAssertion( "myotonic disorder"^^xsd:string) AnnotationAssertion( "myotonic disorders"^^xsd:string) AnnotationAssertion( "myotonic myopathies"^^xsd:string) AnnotationAssertion( "myotonic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:450"^^xsd:string) AnnotationAssertion(rdfs:label "myotonic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypokalemia) AnnotationAssertion(Annotation( "MESH:D007008"^^xsd:string) "Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D007008"^^xsd:string) AnnotationAssertion( "NCI:C34939"^^xsd:string) AnnotationAssertion( "hypokalemias"^^xsd:string) AnnotationAssertion( "hypopotassemia"^^xsd:string) AnnotationAssertion( "hypopotassemias"^^xsd:string) AnnotationAssertion( "potassium deficiency disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4500"^^xsd:string) AnnotationAssertion(rdfs:label "hypokalemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orofaciodigital syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orofaciodigital_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance"^^xsd:string) "A syndrome that is characterized by malformations of the face, oral cavity, and digits. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009958"^^xsd:string) AnnotationAssertion( "MIM:PS311200"^^xsd:string) AnnotationAssertion( "Gorlin Psaume syndrome"^^xsd:string) AnnotationAssertion( "dysplasia linguofacialis"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome"^^xsd:string) AnnotationAssertion( "oro-facio-digital syndrome"^^xsd:string) AnnotationAssertion( "orodigitofacial dysostosis"^^xsd:string) AnnotationAssertion( "orodigitofacial syndrome"^^xsd:string) AnnotationAssertion( "orofaciodigital syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4501"^^xsd:string) AnnotationAssertion(rdfs:label "orofaciodigital syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central nervous system angiosarcoma) AnnotationAssertion(Annotation( "http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073"^^xsd:string) "A central nervous system sarcoma that is located_in the inner lining of blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5450"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4504"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood angiosarcoma) AnnotationAssertion(Annotation( "http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/"^^xsd:string) "An angiosarcoma that affects children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9174"^^xsd:string) AnnotationAssertion( "paediatric angiosarcoma"^^xsd:string) AnnotationAssertion( "paediatric hemangiosarcoma"^^xsd:string) AnnotationAssertion( "pediatric angiosarcoma"^^xsd:string) AnnotationAssertion( "pediatric hemangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4505"^^xsd:string) AnnotationAssertion(rdfs:label "childhood angiosarcoma"^^xsd:string) SubClassOf( ) # Class: (aorta angiosarcoma) AnnotationAssertion(Annotation( "https://academic.oup.com/icvts/article/6/6/832/649705"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34238080/"^^xsd:string) "An angiosarcoma that is located_in the aorta. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5376"^^xsd:string) AnnotationAssertion( "aortic hemangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4510"^^xsd:string) AnnotationAssertion(rdfs:label "aorta angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast angiosarcoma) AnnotationAssertion(Annotation( "http://breastcancer.about.com/od/types/p/angiosarcoma.htm"^^xsd:string) "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. (DO)"^^xsd:string) AnnotationAssertion( "RDO:0001929"^^xsd:string) AnnotationAssertion( "MESH:C536368"^^xsd:string) AnnotationAssertion( "NCI:C5184"^^xsd:string) AnnotationAssertion( "angiosarcoma of the breast"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5184"^^xsd:string) "hemangiosarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4511"^^xsd:string) AnnotationAssertion(rdfs:label "breast angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conventional angiosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9426"^^xsd:string) AnnotationAssertion( "RDO:9003654"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4512"^^xsd:string) AnnotationAssertion(rdfs:label "conventional angiosarcoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder angiosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15861270"^^xsd:string) "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5840"^^xsd:string) AnnotationAssertion( "RDO:9003656"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4513"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid angiosarcoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/thyroid.html"^^xsd:string) "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6043"^^xsd:string) AnnotationAssertion( "RDO:9003657"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6043"^^xsd:string) "hemangiosarcoma of the Thyroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4514"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp"^^xsd:string) "A thyroid gland cancer that is located_in the supporting cells of the thyroid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001971"^^xsd:string) AnnotationAssertion( "NCI:C6041"^^xsd:string) AnnotationAssertion( "RDO:9003199"^^xsd:string) AnnotationAssertion( "sarcoma of the thyroid gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4515"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin angiosarcoma) AnnotationAssertion(Annotation( "http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634"^^xsd:string) "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4489"^^xsd:string) AnnotationAssertion( "angiosarcoma of skin"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4517"^^xsd:string) AnnotationAssertion(rdfs:label "skin angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleomorphic adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleomorphic_adenoma"^^xsd:string) "A gastrointestinal system benign neoplasm that is a located_in the salivary glands. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9003620"^^xsd:string) AnnotationAssertion( "MIM:181030"^^xsd:string) AnnotationAssertion( "PLAG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:1000384"^^xsd:string) AnnotationAssertion( "EFO:1000462"^^xsd:string) AnnotationAssertion( "ICDO:8940/0"^^xsd:string) AnnotationAssertion( "MESH:C563250"^^xsd:string) AnnotationAssertion( "MESH:D008949"^^xsd:string) AnnotationAssertion( "NCI:C35691"^^xsd:string) AnnotationAssertion( "NCI:C40409"^^xsd:string) AnnotationAssertion( "NCI:C8602"^^xsd:string) AnnotationAssertion( "PSA"^^xsd:string) AnnotationAssertion( "SGPA"^^xsd:string) AnnotationAssertion( "chondroid syringoma"^^xsd:string) AnnotationAssertion( "chondroid syringomas"^^xsd:string) AnnotationAssertion( "mixed salivary gland tumor"^^xsd:string) AnnotationAssertion( "mixed tumor of the salivary gland"^^xsd:string) AnnotationAssertion( "pleomorphic adenomas"^^xsd:string) AnnotationAssertion( "pleomorphic salivary gland adenoma"^^xsd:string) AnnotationAssertion( "Parotid Gland Pleomorphic Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:452"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cervical endometrial stromal sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22986788"^^xsd:string) "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003030"^^xsd:string) AnnotationAssertion( "NCI:C40220"^^xsd:string) AnnotationAssertion( "endometrial stromal sarcoma of the cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4520"^^xsd:string) AnnotationAssertion(rdfs:label "cervical endometrial stromal sarcoma"^^xsd:string) SubClassOf( ) # Class: (cervix endometrial stromal tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17619891"^^xsd:string) "A cervical cancer that derives_from the fibrous connective tissue of the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40218"^^xsd:string) AnnotationAssertion( "RDO:9002074"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4521"^^xsd:string) AnnotationAssertion(rdfs:label "cervix endometrial stromal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (superior vena cava angiosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5378"^^xsd:string) AnnotationAssertion( "RDO:9003658"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5378"^^xsd:string) "angiosarcoma of the Superior Vena Cava"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4522"^^xsd:string) AnnotationAssertion(rdfs:label "superior vena cava angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prostate angiosarcoma) AnnotationAssertion(Annotation( "http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat"^^xsd:string) "An angiosarcoma and sarcoma of prostate that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5528"^^xsd:string) AnnotationAssertion( "prostatic hemangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4524"^^xsd:string) AnnotationAssertion(rdfs:label "prostate angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum angiosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/"^^xsd:string) "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6613"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4525"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian angiosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24520828"^^xsd:string) "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5232"^^xsd:string) AnnotationAssertion( "RDO:9003662"^^xsd:string) AnnotationAssertion( "hemangiosarcoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4527"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma"^^xsd:string) "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10671"^^xsd:string) AnnotationAssertion( "ICDO:8430/3"^^xsd:string) AnnotationAssertion( "MESH:D018277"^^xsd:string) AnnotationAssertion( "NCI:C3772"^^xsd:string) AnnotationAssertion( "MEC"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4531"^^xsd:string) AnnotationAssertion(rdfs:label "mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hallermann-Streiff syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome"^^xsd:string) "A syndrome that affects growth, cranial development, hair growth and dental development. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234100"^^xsd:string) AnnotationAssertion( "GARD:288"^^xsd:string) AnnotationAssertion( "MESH:D006210"^^xsd:string) AnnotationAssertion( "NCI:C84746"^^xsd:string) AnnotationAssertion( "ORDO:2108"^^xsd:string) AnnotationAssertion( "Francois Dyscephalic Syndrome"^^xsd:string) AnnotationAssertion( "Francois dyscephalic syndromes"^^xsd:string) AnnotationAssertion( "HSS"^^xsd:string) AnnotationAssertion( "Hallerman-Streiff syndrome"^^xsd:string) AnnotationAssertion( "Hallermann syndrome"^^xsd:string) AnnotationAssertion( "Hallermann's syndrome"^^xsd:string) AnnotationAssertion( "Hallermann-Streiff-Francois syndrome"^^xsd:string) AnnotationAssertion( "Hallermanns Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4534"^^xsd:string) AnnotationAssertion(rdfs:label "Hallermann-Streiff syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypotrichosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypotrichosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis"^^xsd:string) "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001279"^^xsd:string) AnnotationAssertion( "MESH:D007039"^^xsd:string) AnnotationAssertion( "MIM:PS605389"^^xsd:string) AnnotationAssertion( "NCI:C34720"^^xsd:string) AnnotationAssertion( "AH"^^xsd:string) AnnotationAssertion( "HYPOTRICHOSIS WITH WOOLLY HAIR"^^xsd:string) AnnotationAssertion( "Hypotrichoses"^^xsd:string) AnnotationAssertion( "ARWH2"^^xsd:string) AnnotationAssertion( "LOCALIZED AR HYPOTRICHOSIS"^^xsd:string) AnnotationAssertion( "WH/HT"^^xsd:string) AnnotationAssertion( "hypotrichosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "hypotrichosis, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis"^^xsd:string) AnnotationAssertion( "DOID:4535"^^xsd:string) AnnotationAssertion(rdfs:label "hypotrichosis"^^xsd:string) SubClassOf( ) # Class: (dysgraphia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgraphia"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm"^^xsd:string) "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R48.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4540"^^xsd:string) AnnotationAssertion(rdfs:label "dysgraphia"^^xsd:string) SubClassOf( ) # Class: (nominal aphasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nominal_aphasia"^^xsd:string) "An agnosia that involves a severe problem with recalling words or names. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000849"^^xsd:string) AnnotationAssertion( "NCI:C34386"^^xsd:string) AnnotationAssertion( "Amnesic Aphasia"^^xsd:string) AnnotationAssertion( "Anomic Aphasia"^^xsd:string) AnnotationAssertion( "Anomic Dysphasia"^^xsd:string) AnnotationAssertion( "Color Anomia"^^xsd:string) AnnotationAssertion( "Color Anomias"^^xsd:string) AnnotationAssertion( "Dysnomia"^^xsd:string) AnnotationAssertion( "Dysnomias"^^xsd:string) AnnotationAssertion( "Nominal Dysphasia"^^xsd:string) AnnotationAssertion( "anomia"^^xsd:string) AnnotationAssertion( "anomic dysphasias"^^xsd:string) AnnotationAssertion( "nominal dysphasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4541"^^xsd:string) AnnotationAssertion(rdfs:label "nominal aphasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (basophil adenoma) AnnotationAssertion(Annotation( "MESH:D000237"^^xsd:string) "A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000834"^^xsd:string) AnnotationAssertion( "ICDO:8300/0"^^xsd:string) AnnotationAssertion( "MESH:D000237"^^xsd:string) AnnotationAssertion( "NCI:C2856"^^xsd:string) AnnotationAssertion( "Basophil Adenomas"^^xsd:string) AnnotationAssertion( "Basophilic Adenoma"^^xsd:string) AnnotationAssertion( "Basophilic Adenomas"^^xsd:string) AnnotationAssertion( "pituitary gland basophilic adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4542"^^xsd:string) AnnotationAssertion(rdfs:label "basophil adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retrograde amnesia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amnesia"^^xsd:string) "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R41.2"^^xsd:string) AnnotationAssertion( "MESH:D000648"^^xsd:string) AnnotationAssertion( "NCI:C34372"^^xsd:string) AnnotationAssertion( "Pre Ictal Memory Loss"^^xsd:string) AnnotationAssertion( "Pre-Ictal Amnesia"^^xsd:string) AnnotationAssertion( "Pre-Ictal Memory Losses"^^xsd:string) AnnotationAssertion( "Retrograde Amnesias"^^xsd:string) AnnotationAssertion( "Retrograde Memory Loss"^^xsd:string) AnnotationAssertion( "pre-ictal amnesias"^^xsd:string) AnnotationAssertion( "retrograde memory losses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4543"^^xsd:string) AnnotationAssertion(rdfs:label "retrograde amnesia"^^xsd:string) SubClassOf( ) # Class: (mesenchymal chondrosarcoma) AnnotationAssertion(Annotation( "MESH:D018211"^^xsd:string) "A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)"^^xsd:string) AnnotationAssertion( "EFO:1001041"^^xsd:string) AnnotationAssertion( "ICDO:9240/3"^^xsd:string) AnnotationAssertion( "MESH:D018211"^^xsd:string) AnnotationAssertion( "NCI:C3737"^^xsd:string) AnnotationAssertion( "Mesenchymal Chondrosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4545"^^xsd:string) AnnotationAssertion(rdfs:label "mesenchymal chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (childhood mesenchymal chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9240/3"^^xsd:string) AnnotationAssertion( "NCI:C27374"^^xsd:string) AnnotationAssertion( "pediatric mesenchymal chondrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4546"^^xsd:string) AnnotationAssertion(rdfs:label "childhood mesenchymal chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (adult mesenchymal chondrosarcoma) AnnotationAssertion(Annotation( "http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html"^^xsd:string) "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27375"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4547"^^xsd:string) AnnotationAssertion(rdfs:label "adult mesenchymal chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (extraskeletal mesenchymal chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27481"^^xsd:string) AnnotationAssertion( "mesenchymal extraosseous chondrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4548"^^xsd:string) AnnotationAssertion(rdfs:label "extraskeletal mesenchymal chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (extraskeletal myxoid chondrosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/10564384/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16084955"^^xsd:string) "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:6496"^^xsd:string) AnnotationAssertion( "MIM:612237"^^xsd:string) AnnotationAssertion( "MESH:C563195"^^xsd:string) AnnotationAssertion( "NCI:C27502"^^xsd:string) AnnotationAssertion( "ORDO:209916"^^xsd:string) AnnotationAssertion( "EMC"^^xsd:string) AnnotationAssertion( "TAF15-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "extraosseous chondrosarcoma"^^xsd:string) AnnotationAssertion( "myxoid extraosseous chondrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4549"^^xsd:string) AnnotationAssertion(rdfs:label "extraskeletal myxoid chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (anal gland neoplasm) AnnotationAssertion(Annotation( "MESH:D000694"^^xsd:string) "Tumors or cancer of the anal gland."^^xsd:string) AnnotationAssertion( "EFO:1000804"^^xsd:string) AnnotationAssertion( "MESH:D000694"^^xsd:string) AnnotationAssertion( "RDO:0004819"^^xsd:string) AnnotationAssertion( "Circumanal Gland Neoplasm"^^xsd:string) AnnotationAssertion( "Circumanal Gland Neoplasms"^^xsd:string) AnnotationAssertion( "Perianal Gland Neoplasm"^^xsd:string) AnnotationAssertion( "Perianal Gland Neoplasms"^^xsd:string) AnnotationAssertion( "anal gland neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4550"^^xsd:string) AnnotationAssertion(rdfs:label "anal gland neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anus benign neoplasm) AnnotationAssertion(Annotation( "MESH:D001005"^^xsd:string) "Tumors or cancer of the ANAL CANAL."^^xsd:string) AnnotationAssertion( "EFO:0003835"^^xsd:string) AnnotationAssertion( "MESH:D001005"^^xsd:string) AnnotationAssertion( "NCI:C2877"^^xsd:string) AnnotationAssertion( "anal neoplasm"^^xsd:string) AnnotationAssertion( "anal neoplasms"^^xsd:string) AnnotationAssertion( "anal tumors"^^xsd:string) AnnotationAssertion( "anus neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4551"^^xsd:string) AnnotationAssertion(rdfs:label "anus benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8012/3"^^xsd:string) AnnotationAssertion( "MESH:D018287"^^xsd:string) AnnotationAssertion( "NCI:C3780"^^xsd:string) AnnotationAssertion( "large cell carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4552"^^xsd:string) AnnotationAssertion(rdfs:label "large cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (thymus large cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6461"^^xsd:string) AnnotationAssertion( "RDO:9004827"^^xsd:string) AnnotationAssertion( "large cell carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4553"^^xsd:string) AnnotationAssertion(rdfs:label "thymus large cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (type C thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7569"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4554"^^xsd:string) AnnotationAssertion(rdfs:label "type C thymoma"^^xsd:string) SubClassOf( ) # Class: (ovarian large-cell neuroendocrine carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/"^^xsd:string) "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5238"^^xsd:string) AnnotationAssertion( "non-small-cell type neuroendocrine carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4555"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian large-cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung large cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003050"^^xsd:string) AnnotationAssertion( "EFO:1000016"^^xsd:string) AnnotationAssertion( "EFO:1000340"^^xsd:string) AnnotationAssertion( "NCI:C4450"^^xsd:string) AnnotationAssertion( "large cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "Lymphoepithelioma-Like Lung Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4556"^^xsd:string) AnnotationAssertion(rdfs:label "lung large cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral leukoedema) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Leukoedema"^^xsd:string) "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001075"^^xsd:string) AnnotationAssertion( "MESH:D007967"^^xsd:string) AnnotationAssertion( "leukedema of mouth"^^xsd:string) AnnotationAssertion( "oral leukoedemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4557"^^xsd:string) AnnotationAssertion(rdfs:label "oral leukoedema"^^xsd:string) SubClassOf( ) # Class: (Ludwig's angina) AnnotationAssertion(Annotation( "MESH:D008158"^^xsd:string) "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "RDO:0006028"^^xsd:string) AnnotationAssertion( "EFO:1000730"^^xsd:string) AnnotationAssertion( "MESH:D008158"^^xsd:string) AnnotationAssertion( "Ludwig angina"^^xsd:string) AnnotationAssertion( "Ludwigs angina"^^xsd:string) AnnotationAssertion( "cellulitis of floor of mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4558"^^xsd:string) AnnotationAssertion(rdfs:label "Ludwig's angina"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ascariasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ascariasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604291"^^xsd:string) AnnotationAssertion( "EFO:0007154"^^xsd:string) AnnotationAssertion( "ICD10CM:B77"^^xsd:string) AnnotationAssertion( "ICD9CM:127.0"^^xsd:string) AnnotationAssertion( "MESH:D001196"^^xsd:string) AnnotationAssertion( "NCI:C128392"^^xsd:string) AnnotationAssertion( "ascariases"^^xsd:string) AnnotationAssertion( "ascariasis - roundworm"^^xsd:string) AnnotationAssertion( "ascaris lumbricoides infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:456"^^xsd:string) AnnotationAssertion(rdfs:label "ascariasis"^^xsd:string) SubClassOf( ) # Class: (non specific chronic endometritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9653909"^^xsd:string) "An endometritis that is present for weeks or more and does not have an identifiable causative organism. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27625"^^xsd:string) AnnotationAssertion( "RDO:9003768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4560"^^xsd:string) AnnotationAssertion(rdfs:label "non specific chronic endometritis"^^xsd:string) SubClassOf( ) # Class: (granulomatous endometritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1326899"^^xsd:string) "An endometritis that is characterized by the presence of granulomas in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27626"^^xsd:string) AnnotationAssertion( "RDO:9003772"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4561"^^xsd:string) AnnotationAssertion(rdfs:label "granulomatous endometritis"^^xsd:string) SubClassOf( ) # Class: (subacute bacterial endocarditis) AnnotationAssertion(Annotation( "MESH:D004698"^^xsd:string) "ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection."^^xsd:string) AnnotationAssertion( "EFO:1001193"^^xsd:string) AnnotationAssertion( "MESH:D004698"^^xsd:string) AnnotationAssertion( "NCI:C34583"^^xsd:string) AnnotationAssertion( "Endocarditis Lenta"^^xsd:string) AnnotationAssertion( "SBE - subacute bacterial endocarditis"^^xsd:string) AnnotationAssertion( "Subacute Bacterial Endocarditides"^^xsd:string) AnnotationAssertion( "subacute endocarditis lenta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4562"^^xsd:string) AnnotationAssertion(rdfs:label "subacute bacterial endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (choroid plexus meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4719"^^xsd:string) AnnotationAssertion( "choroid meningioma"^^xsd:string) AnnotationAssertion( "meningioma of the choroid plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4584"^^xsd:string) AnnotationAssertion(rdfs:label "choroid plexus meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (familial meningioma) AnnotationAssertion( "MIM:607174"^^xsd:string) AnnotationAssertion( "MN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537443"^^xsd:string) AnnotationAssertion( "NCI:C5301"^^xsd:string) AnnotationAssertion( "FAMILIAL MULTIPLE MENINGIOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:4586"^^xsd:string) AnnotationAssertion(rdfs:label "familial meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4055"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4587"^^xsd:string) AnnotationAssertion(rdfs:label "benign meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (secretory meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000522"^^xsd:string) AnnotationAssertion( "NCI:C4718"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4588"^^xsd:string) AnnotationAssertion(rdfs:label "secretory meningioma"^^xsd:string) SubClassOf( ) # Class: (lymphoplasmacyte-rich meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000342"^^xsd:string) AnnotationAssertion( "NCI:C4720"^^xsd:string) AnnotationAssertion( "lymphoplasmocyte-rich meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4591"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoplasmacyte-rich meningioma"^^xsd:string) SubClassOf( ) # Class: (childhood meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8264"^^xsd:string) AnnotationAssertion( "pediatric meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4593"^^xsd:string) AnnotationAssertion(rdfs:label "childhood meningioma"^^xsd:string) SubClassOf( ) # Class: (microcystic meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000376"^^xsd:string) AnnotationAssertion( "NCI:C4721"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4594"^^xsd:string) AnnotationAssertion(rdfs:label "microcystic meningioma"^^xsd:string) SubClassOf( ) # Class: (epidermolytic hyperkeratosis) AnnotationAssertion(Annotation( "MESH:D017488"^^xsd:string) Annotation( "https://dermnetnz.org/topics/epidermolytic-ichthyosis"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/"^^xsd:string) "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001415"^^xsd:string) AnnotationAssertion( "EFO:0004137"^^xsd:string) AnnotationAssertion( "GARD:1039"^^xsd:string) AnnotationAssertion( "ICD10CM:Q80.3"^^xsd:string) AnnotationAssertion( "MESH:D017488"^^xsd:string) AnnotationAssertion( "MIM:PS113800"^^xsd:string) AnnotationAssertion( "MIM:PS607602"^^xsd:string) AnnotationAssertion( "MONDO:0007239"^^xsd:string) AnnotationAssertion( "NCI:C62569"^^xsd:string) AnnotationAssertion( "BCIE"^^xsd:string) AnnotationAssertion( "BIE"^^xsd:string) AnnotationAssertion( "EHK"^^xsd:string) AnnotationAssertion( "bullous congenital ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "bullous erythroderma ichthyosiforme"^^xsd:string) AnnotationAssertion( "bullous erythroderma ichthyosiformis congenita of Brocq"^^xsd:string) AnnotationAssertion( "bullous ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "bullous ichthyosiform erythrodermas"^^xsd:string) AnnotationAssertion( "epidermolytic hyperkeratoses"^^xsd:string) AnnotationAssertion( "epidermolytic ichthyosis"^^xsd:string) AnnotationAssertion( "epidermolytic palmoplantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4603"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolytic hyperkeratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=527370"^^xsd:string) "A biliary tract cancer that is located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C24.0"^^xsd:string) AnnotationAssertion( "ICD9CM:156.1"^^xsd:string) AnnotationAssertion( "NCI:C2898"^^xsd:string) AnnotationAssertion( "NCI:C7483"^^xsd:string) AnnotationAssertion( "Ca extrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "bile duct cancers"^^xsd:string) AnnotationAssertion( "bile duct tumor"^^xsd:string) AnnotationAssertion( "cancer of bile duct"^^xsd:string) AnnotationAssertion( "cancer of the bile duct"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4606"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biliary tract cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Biliary_tract_cancer"^^xsd:string) "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5924"^^xsd:string) AnnotationAssertion( "GARD:9304"^^xsd:string) AnnotationAssertion( "ICD10CM:C24.9"^^xsd:string) AnnotationAssertion( "ICD9CM:156.9"^^xsd:string) AnnotationAssertion( "RDO:9003932"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93688006"^^xsd:string) "malignant tumour of biliary tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4607"^^xsd:string) AnnotationAssertion(rdfs:label "biliary tract cancer"^^xsd:string) SubClassOf( ) # Class: (common bile duct neoplasm) AnnotationAssertion(Annotation( "MESH:D003138"^^xsd:string) "Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI."^^xsd:string) AnnotationAssertion( "RDO:0005246"^^xsd:string) AnnotationAssertion( "EFO:1000876"^^xsd:string) AnnotationAssertion( "MESH:D003138"^^xsd:string) AnnotationAssertion( "common bile duct neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of common bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4608"^^xsd:string) AnnotationAssertion(rdfs:label "common bile duct neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (muscle benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4063"^^xsd:string) AnnotationAssertion( "RDO:9005020"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:189786009"^^xsd:string) "myomatous neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4063"^^xsd:string) "myomatous tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126616000"^^xsd:string) "neoplasm of muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:461"^^xsd:string) AnnotationAssertion(rdfs:label "muscle benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestinal benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Benign_tumor"^^xsd:string) "A gastrointestinal system benign neoplasm that is located_in the intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3141"^^xsd:string) AnnotationAssertion( "intestinal tumors"^^xsd:string) AnnotationAssertion( "intestine growth"^^xsd:string) AnnotationAssertion( "neoplasm of intestinal tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4610"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ulnar neuropathy) AnnotationAssertion(Annotation( "MESH:D020424"^^xsd:string) "Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)"^^xsd:string) AnnotationAssertion( "EFO:1001224"^^xsd:string) AnnotationAssertion( "MESH:D020424"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Disease"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Palsies"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Palsy"^^xsd:string) AnnotationAssertion( "Ulnar Neuritides"^^xsd:string) AnnotationAssertion( "ulnar nerve diseases"^^xsd:string) AnnotationAssertion( "ulnar neuritis"^^xsd:string) AnnotationAssertion( "ulnar neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4613"^^xsd:string) AnnotationAssertion(rdfs:label "ulnar neuropathy"^^xsd:string) SubClassOf( ) # Class: (periapical granuloma) AnnotationAssertion(Annotation( "MESH:D010484"^^xsd:string) "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment."^^xsd:string) AnnotationAssertion( "EFO:1001096"^^xsd:string) AnnotationAssertion( "MESH:D010484"^^xsd:string) AnnotationAssertion( "Dental Granuloma"^^xsd:string) AnnotationAssertion( "Dental Granulomas"^^xsd:string) AnnotationAssertion( "Periapical Granulomas"^^xsd:string) AnnotationAssertion( "apical granuloma"^^xsd:string) AnnotationAssertion( "chronic nonsuppurative apical periodontitis"^^xsd:string) AnnotationAssertion( "chronic nonsuppurative periapical periodontitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4617"^^xsd:string) AnnotationAssertion(rdfs:label "periapical granuloma"^^xsd:string) SubClassOf( ) # Class: (maxillary cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/"^^xsd:string) "A jaw cancer that effects the maxilla or upper jaw. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "upper jaw bone cancer"^^xsd:string) AnnotationAssertion( "DOID:4618"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holoprosencephaly) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Holoprosencephaly"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1530/"^^xsd:string) "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)"^^xsd:string) AnnotationAssertion( "HOLOPROSENCEPHALY SPECTRUM DISORDER"^^xsd:string) AnnotationAssertion( "GARD:6665"^^xsd:string) AnnotationAssertion( "ICD10CM:Q04.2"^^xsd:string) AnnotationAssertion( "MESH:D016142"^^xsd:string) AnnotationAssertion( "MIM:PS236100"^^xsd:string) AnnotationAssertion( "NCI:C74988"^^xsd:string) AnnotationAssertion( "ORDO:2162"^^xsd:string) AnnotationAssertion( "Arhinencephaly"^^xsd:string) AnnotationAssertion( "DeMyer sequence"^^xsd:string) AnnotationAssertion( "HPE, familial"^^xsd:string) AnnotationAssertion( "HPEC"^^xsd:string) AnnotationAssertion( "Holoprosencephalies"^^xsd:string) AnnotationAssertion( "Holoprosencephaly, Familial Alobar"^^xsd:string) AnnotationAssertion( "alobar holoprosencephalies"^^xsd:string) AnnotationAssertion( "alobar holoprosencephaly"^^xsd:string) AnnotationAssertion( "arhinencephalies"^^xsd:string) AnnotationAssertion( "holoprosencephaly sequence"^^xsd:string) AnnotationAssertion( "lobar holoprosencephalies"^^xsd:string) AnnotationAssertion( "lobar holoprosencephaly"^^xsd:string) AnnotationAssertion( "semilobar holoprosencephalies"^^xsd:string) AnnotationAssertion( "semilobar holoprosencephaly"^^xsd:string) AnnotationAssertion( "FOXH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microform holoprosencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4621"^^xsd:string) AnnotationAssertion(rdfs:label "holoprosencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ollier disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ollier_disease"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx"^^xsd:string) "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166000"^^xsd:string) AnnotationAssertion( "GARD:7251"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.4"^^xsd:string) AnnotationAssertion( "MESH:D004687"^^xsd:string) AnnotationAssertion( "NCI:C3008"^^xsd:string) AnnotationAssertion( "NCI:C3213"^^xsd:string) AnnotationAssertion( "ORDO:296"^^xsd:string) AnnotationAssertion( "DYSCHONDROPLASIA"^^xsd:string) AnnotationAssertion( "Dyschondroplasia and Cavernous Hemangioma"^^xsd:string) AnnotationAssertion( "ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE"^^xsd:string) AnnotationAssertion( "Enchondromatoses"^^xsd:string) AnnotationAssertion( "Enchondromatosis with Hemangiomata"^^xsd:string) AnnotationAssertion( "Enchondromatosis with Multiple Cavernous Hemangiomas"^^xsd:string) AnnotationAssertion( "Enchondromatosis, Multiple"^^xsd:string) AnnotationAssertion( "Hemangiomata with Dyschondroplasia"^^xsd:string) AnnotationAssertion( "Hemangiomatosis Chondrodystrophica"^^xsd:string) AnnotationAssertion( "Kast Syndrome"^^xsd:string) AnnotationAssertion( "Kast's syndrome"^^xsd:string) AnnotationAssertion( "Multiple Angiomas and Endochondromas"^^xsd:string) AnnotationAssertion( "Multiple Enchondroma"^^xsd:string) AnnotationAssertion( "Multiple Enchondromas"^^xsd:string) AnnotationAssertion( "Multiple Enchondroses"^^xsd:string) AnnotationAssertion( "Ollier's disease"^^xsd:string) AnnotationAssertion( "Olliers disease"^^xsd:string) AnnotationAssertion( "chondrodysplasia with hemangioma"^^xsd:string) AnnotationAssertion( "chondroplasia angiomatosis"^^xsd:string) AnnotationAssertion( "dyschondrodysplasia with hemangiomas"^^xsd:string) AnnotationAssertion( "enchondromatosis"^^xsd:string) AnnotationAssertion( "enchondromatosis with haemangiomata"^^xsd:string) AnnotationAssertion( "multiple enchondrosis"^^xsd:string) AnnotationAssertion( "osteochondromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4624"^^xsd:string) AnnotationAssertion(rdfs:label "Ollier disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hydranencephaly) AnnotationAssertion(Annotation( "MESH:D006832"^^xsd:string) "A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)"^^xsd:string) AnnotationAssertion( "RDO:0003417"^^xsd:string) AnnotationAssertion( "GARD:6681"^^xsd:string) AnnotationAssertion( "MESH:D006832"^^xsd:string) AnnotationAssertion( "NCI:C98949"^^xsd:string) AnnotationAssertion( "Cerebral Hemispheres, Absence, Congenital"^^xsd:string) AnnotationAssertion( "Congenital Absence of Cerebral Hemispheres"^^xsd:string) AnnotationAssertion( "Hemihydranencephalies"^^xsd:string) AnnotationAssertion( "Hemihydranencephaly"^^xsd:string) AnnotationAssertion( "Hydranencephalies"^^xsd:string) AnnotationAssertion( "Hydranencephaly with Proliferative Vasculopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4626"^^xsd:string) AnnotationAssertion(rdfs:label "hydranencephaly"^^xsd:string) SubClassOf( ) # Class: (ideomotor apraxia) AnnotationAssertion(Annotation( "MESH:D020240"^^xsd:string) "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)"^^xsd:string) AnnotationAssertion( "EFO:1000980"^^xsd:string) AnnotationAssertion( "MESH:D020240"^^xsd:string) AnnotationAssertion( "RDO:0007370"^^xsd:string) AnnotationAssertion( "Classic Apraxia"^^xsd:string) AnnotationAssertion( "Classic Apraxias"^^xsd:string) AnnotationAssertion( "Ideokinetic Apraxia"^^xsd:string) AnnotationAssertion( "Ideokinetic Apraxias"^^xsd:string) AnnotationAssertion( "Ideomotor Apraxias"^^xsd:string) AnnotationAssertion( "Ideomotor Dyspraxia"^^xsd:string) AnnotationAssertion( "Ideomotor Dyspraxias"^^xsd:string) AnnotationAssertion( "Limb Kinetic Apraxia"^^xsd:string) AnnotationAssertion( "Limb Kinetic Apraxias"^^xsd:string) AnnotationAssertion( "Transcortical Apraxia"^^xsd:string) AnnotationAssertion( "Transcortical Apraxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4627"^^xsd:string) AnnotationAssertion(rdfs:label "ideomotor apraxia"^^xsd:string) SubClassOf( ) # Class: (inverted transitional papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4630"^^xsd:string) AnnotationAssertion(rdfs:label "inverted transitional papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity inverting papilloma) AnnotationAssertion( "NCI:C8194"^^xsd:string) AnnotationAssertion( "inverting papilloma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4633"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity inverting papilloma"^^xsd:string) SubClassOf( ) # Class: (submandibular adenitis) AnnotationAssertion( "Inflammation of the submandibular lymph nodes. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27016"^^xsd:string) AnnotationAssertion( "submandibular lymphadenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4636"^^xsd:string) AnnotationAssertion(rdfs:label "submandibular adenitis"^^xsd:string) SubClassOf( ) # Class: (cervical adenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C26937"^^xsd:string) AnnotationAssertion( "cervical lymphadenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4637"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenitis"^^xsd:string) SubClassOf( ) # Class: (postauricular lymphadenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27332"^^xsd:string) AnnotationAssertion( "RDO:9003861"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4638"^^xsd:string) AnnotationAssertion(rdfs:label "postauricular lymphadenitis"^^xsd:string) SubClassOf( ) # Class: (suppurative lymphadenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27135"^^xsd:string) AnnotationAssertion( "suppurative lymphadenopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4639"^^xsd:string) AnnotationAssertion(rdfs:label "suppurative lymphadenitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (axillary adenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27333"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4640"^^xsd:string) AnnotationAssertion(rdfs:label "axillary adenitis"^^xsd:string) SubClassOf( ) # Class: (epidermolysis bullosa simplex) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes"^^xsd:string) "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002080"^^xsd:string) AnnotationAssertion( "GARD:10752"^^xsd:string) AnnotationAssertion( "MESH:D016110"^^xsd:string) AnnotationAssertion( "MIM:PS131760"^^xsd:string) AnnotationAssertion( "NCI:C84692"^^xsd:string) AnnotationAssertion( "ORDO:304"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Simplex, Cockayne Touraine Type"^^xsd:string) AnnotationAssertion( "EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa, simplex, PLEC"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa, simplex, PLEC-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4644"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa simplex"^^xsd:string) SubClassOf( ) # Class: (retinal cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005716"^^xsd:string) AnnotationAssertion( "ICD10CM:C69.2"^^xsd:string) AnnotationAssertion( "ICD9CM:190.5"^^xsd:string) AnnotationAssertion( "NCI:C3216"^^xsd:string) AnnotationAssertion( "NCI:C4800"^^xsd:string) AnnotationAssertion( "cancer of the retina"^^xsd:string) AnnotationAssertion( "malignant neoplasm of retina"^^xsd:string) AnnotationAssertion( "malignant retinal neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of retina"^^xsd:string) AnnotationAssertion( "retinal cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4645"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trilateral retinoblastoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10391573"^^xsd:string) "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4647"^^xsd:string) AnnotationAssertion(rdfs:label "trilateral retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (familial retinoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8495"^^xsd:string) AnnotationAssertion( "ORDO:357027"^^xsd:string) AnnotationAssertion( "familial retinoblastomas"^^xsd:string) AnnotationAssertion( "hereditary retinoblastoma"^^xsd:string) AnnotationAssertion( "hereditary retinoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4648"^^xsd:string) AnnotationAssertion(rdfs:label "familial retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (bilateral retinoblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retinoblastoma"^^xsd:string) "A retinoblastoma that develops in both eyes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8713"^^xsd:string) AnnotationAssertion( "RDO:9003467"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4650"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (unilateral retinoblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retinoblastoma"^^xsd:string) "A retinoblastoma that effects only one eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8714"^^xsd:string) AnnotationAssertion( "RDO:9003468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4651"^^xsd:string) AnnotationAssertion(rdfs:label "unilateral retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (intraocular retinoblastoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28620731"^^xsd:string) "A retinoblastoma that is located_in the eye and has not spread to other parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7846"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4653"^^xsd:string) AnnotationAssertion(rdfs:label "intraocular retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (extraocular retinoblastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7"^^xsd:string) "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7848"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4656"^^xsd:string) AnnotationAssertion(rdfs:label "extraocular retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (benign mastocytoma) AnnotationAssertion( "NCI:C9303"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4658"^^xsd:string) AnnotationAssertion(rdfs:label "benign mastocytoma"^^xsd:string) SubClassOf( ) # Class: (extracutaneous mastocytoma) AnnotationAssertion(Annotation( "MESH:D034801"^^xsd:string) "A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign."^^xsd:string) AnnotationAssertion( "EFO:1000932"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.09"^^xsd:string) AnnotationAssertion( "MESH:D034801"^^xsd:string) AnnotationAssertion( "NCI:C7136"^^xsd:string) AnnotationAssertion( "extracutaneous mastocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4659"^^xsd:string) AnnotationAssertion(rdfs:label "extracutaneous mastocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (indolent systemic mastocytosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.02"^^xsd:string) AnnotationAssertion( "ICDO:9741/1"^^xsd:string) AnnotationAssertion( "NCI:C9286"^^xsd:string) AnnotationAssertion( "ISM"^^xsd:string) AnnotationAssertion( "indolent systemic mastocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4660"^^xsd:string) AnnotationAssertion(rdfs:label "indolent systemic mastocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple chemical sensitivity) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity"^^xsd:string) Annotation( "http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html"^^xsd:string) "A syndrome that is an adverse physical reaction to low levels of many common chemicals. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007382"^^xsd:string) AnnotationAssertion( "MESH:D018777"^^xsd:string) AnnotationAssertion( "20th century disease"^^xsd:string) AnnotationAssertion( "chemical AIDS"^^xsd:string) AnnotationAssertion( "idiopathic environmental illness"^^xsd:string) AnnotationAssertion( "idiopathic environmental intolerance"^^xsd:string) AnnotationAssertion( "idiopathic environmental intolerances"^^xsd:string) AnnotationAssertion( "multiple chemical sensitivities"^^xsd:string) AnnotationAssertion( "multiple chemical sensitivity syndrome"^^xsd:string) AnnotationAssertion( "total allergy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4661"^^xsd:string) AnnotationAssertion(rdfs:label "multiple chemical sensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thalamic disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Thalamus"^^xsd:string) "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013786"^^xsd:string) AnnotationAssertion( "NCI:C85186"^^xsd:string) AnnotationAssertion( "Dejerine Roussy Syndrome"^^xsd:string) AnnotationAssertion( "Thalamic Syndrome"^^xsd:string) AnnotationAssertion( "Thalamic Syndromes"^^xsd:string) AnnotationAssertion( "thalamic diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4662"^^xsd:string) AnnotationAssertion(rdfs:label "thalamic disease"^^xsd:string) SubClassOf( ) # Class: (filamentary keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.12"^^xsd:string) AnnotationAssertion( "ICD9CM:370.23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4664"^^xsd:string) AnnotationAssertion(rdfs:label "filamentary keratitis"^^xsd:string) SubClassOf( ) # Class: (kyphosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/kyphosis/DS00681"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/kyphosis#:~:text=Postural%20kyphosis%3A%20the%20most%20common,used%20to%20help%20correct%20posture"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK558945/"^^xsd:string) "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T10:06:56Z"^^xsd:string) AnnotationAssertion( "DOID:9003358"^^xsd:string) AnnotationAssertion( "MESH:D007738"^^xsd:string) AnnotationAssertion( "kyphoses"^^xsd:string) AnnotationAssertion( "kyphosis deformity of spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4667"^^xsd:string) AnnotationAssertion(rdfs:label "kyphosis"^^xsd:string) SubClassOf( ) # Class: (congenital kyphosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string) Annotation( "http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html"^^xsd:string) Annotation( "http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp"^^xsd:string) Annotation( "http://www.wheelessonline.com/ortho/congenital_kyphosis"^^xsd:string) "A kyphosis that results_in abnormal formation located_in body of vertebra. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T10:10:34Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4668"^^xsd:string) AnnotationAssertion(rdfs:label "congenital kyphosis"^^xsd:string) SubClassOf( ) # Class: (venous hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9122/0"^^xsd:string) AnnotationAssertion( "NCI:C4296"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:467"^^xsd:string) AnnotationAssertion(rdfs:label "venous hemangioma"^^xsd:string) SubClassOf( ) # Class: (freemartinism) AnnotationAssertion(Annotation( "MESH:D005611"^^xsd:string) "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric 'female'(CHIMERISM)."^^xsd:string) AnnotationAssertion( "EFO:1000939"^^xsd:string) AnnotationAssertion( "MESH:D005611"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4671"^^xsd:string) AnnotationAssertion(rdfs:label "freemartinism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (androgen insensitivity syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1429/"^^xsd:string) "A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300068"^^xsd:string) AnnotationAssertion( "GARD:5803"^^xsd:string) AnnotationAssertion( "ICD10CM:E34.5"^^xsd:string) AnnotationAssertion( "ICD9CM:259.51"^^xsd:string) AnnotationAssertion( "MESH:D013734"^^xsd:string) AnnotationAssertion( "NCI:C120191"^^xsd:string) AnnotationAssertion( "NCI:C27226"^^xsd:string) AnnotationAssertion( "ORDO:754"^^xsd:string) AnnotationAssertion( "AIS"^^xsd:string) AnnotationAssertion( "AR Deficiencies"^^xsd:string) AnnotationAssertion( "AR Deficiency"^^xsd:string) AnnotationAssertion( "Androgen Receptor Deficiency"^^xsd:string) AnnotationAssertion( "Androgen Resistance Syndrome"^^xsd:string) AnnotationAssertion( "DHTR Deficiencies"^^xsd:string) AnnotationAssertion( "DHTR Deficiency"^^xsd:string) AnnotationAssertion( "Dihydrotestosterone Receptor Deficiencies"^^xsd:string) AnnotationAssertion( "Dihydrotestosterone Receptor Deficiency"^^xsd:string) AnnotationAssertion( "Feminisation - testicular"^^xsd:string) AnnotationAssertion( "Goldberg-Maxwell syndrome"^^xsd:string) AnnotationAssertion( "Male Pseudohermaphroditism Due to Androgen Insensitivity"^^xsd:string) AnnotationAssertion( "TFM"^^xsd:string) AnnotationAssertion( "Testicular Feminization"^^xsd:string) AnnotationAssertion( "androgen insensitivity syndromes"^^xsd:string) AnnotationAssertion( "androgen receptor deficiencies"^^xsd:string) AnnotationAssertion( "androgen resistance syndromes"^^xsd:string) AnnotationAssertion( "testicular feminization syndrome"^^xsd:string) AnnotationAssertion( "testicular feminization syndromes"^^xsd:string) AnnotationAssertion( "testicular feminizations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4674"^^xsd:string) AnnotationAssertion(rdfs:label "androgen insensitivity syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uremic neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27055"^^xsd:string) AnnotationAssertion( "RDO:9003040"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4675"^^xsd:string) AnnotationAssertion(rdfs:label "uremic neuropathy"^^xsd:string) SubClassOf( ) # Class: (uremia) AnnotationAssertion(Annotation( "MESH:D014511"^^xsd:string) "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms."^^xsd:string) AnnotationAssertion( "EFO:1001226"^^xsd:string) AnnotationAssertion( "MESH:D014511"^^xsd:string) AnnotationAssertion( "RDO:0005752"^^xsd:string) AnnotationAssertion( "UREMIA OF renal ORIGIN"^^xsd:string) AnnotationAssertion( "Uremias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4676"^^xsd:string) AnnotationAssertion(rdfs:label "uremia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratitis) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288"^^xsd:string) "A corneal disease that is characterized by inflammation of the cornea. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009449"^^xsd:string) AnnotationAssertion( "ICD10CM:H16"^^xsd:string) AnnotationAssertion( "ICD9CM:370"^^xsd:string) AnnotationAssertion( "MESH:D007634"^^xsd:string) AnnotationAssertion( "NCI:C26805"^^xsd:string) AnnotationAssertion( "keratitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4677"^^xsd:string) AnnotationAssertion(rdfs:label "keratitis"^^xsd:string) SubClassOf( ) # Class: (thymus mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html"^^xsd:string) "A mucoepidermoid carcinoma located_in the thymus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6457"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4678"^^xsd:string) AnnotationAssertion(rdfs:label "thymus mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/"^^xsd:string) "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5166"^^xsd:string) AnnotationAssertion( "RDO:9004466"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of breast"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4679"^^xsd:string) AnnotationAssertion(rdfs:label "breast mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intramuscular hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9132/0"^^xsd:string) AnnotationAssertion( "NCI:C3699"^^xsd:string) AnnotationAssertion( "intramuscular angioma"^^xsd:string) AnnotationAssertion( "intramuscular hemangiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:468"^^xsd:string) AnnotationAssertion(rdfs:label "intramuscular hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast metaplastic carcinoma) AnnotationAssertion(Annotation( "http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/"^^xsd:string) "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000040"^^xsd:string) AnnotationAssertion( "EFO:1000374"^^xsd:string) AnnotationAssertion( "GARD:10804"^^xsd:string) AnnotationAssertion( "ICDO:8575/3"^^xsd:string) AnnotationAssertion( "NCI:C5164"^^xsd:string) AnnotationAssertion( "metaplastic carcinoma of breast"^^xsd:string) AnnotationAssertion( "metaplastic carcinoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4680"^^xsd:string) AnnotationAssertion(rdfs:label "breast metaplastic carcinoma"^^xsd:string) SubClassOf( ) # Class: (bile duct mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35140960/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/35697621/"^^xsd:string) "A mucoepidermoid carcinoma located_in a bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5862"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4681"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrahepatic bile duct carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer"^^xsd:string) "A cholangiocarcinoma that arises from the extrahepatic bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003090"^^xsd:string) AnnotationAssertion( "NCI:C3860"^^xsd:string) AnnotationAssertion( "carcinoma of extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "extrahepatic bile duct cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4682"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct carcinoma"^^xsd:string) SubClassOf( ) # Class: (cutaneous mucoepidermoid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4472"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of skin"^^xsd:string) AnnotationAssertion( "mucoepidermoid skin carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4683"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal gland mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html"^^xsd:string) "A mucoepidermoid carcinoma located_in the lacrimal gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:003092"^^xsd:string) AnnotationAssertion( "NCI:C6091"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of the lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4685"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucoepidermoid esophageal carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5343"^^xsd:string) AnnotationAssertion( "RDO:9002305"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5343"^^xsd:string) "Mucoepidermoid carcinoma of the esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4686"^^xsd:string) AnnotationAssertion(rdfs:label "mucoepidermoid esophageal carcinoma"^^xsd:string) SubClassOf( ) # Class: (thyroid gland mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762"^^xsd:string) "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000590"^^xsd:string) AnnotationAssertion( "NCI:C38762"^^xsd:string) AnnotationAssertion( "RDO:9003201"^^xsd:string) AnnotationAssertion( "mucoepidermoid thyroid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4687"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) # Class: (laryngeal mucoepidermoid carcinoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html"^^xsd:string) "A mucoepidermoid carcinoma located_in the larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9463"^^xsd:string) AnnotationAssertion( "mucoepidermoid carcinoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4688"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal mucoepidermoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (deep angioma) AnnotationAssertion( "NCI:C6555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:469"^^xsd:string) AnnotationAssertion(rdfs:label "deep angioma"^^xsd:string) SubClassOf( ) # Class: (childhood mediastinal neurogenic tumor) AnnotationAssertion( "ICD-O:M9540/3"^^xsd:string) AnnotationAssertion( "NCI:C5429"^^xsd:string) AnnotationAssertion( "childhood mediastinal neurogenic tumour"^^xsd:string) AnnotationAssertion( "paediatric neurogenic tumour of mediastinum"^^xsd:string) AnnotationAssertion( "pediatric neurogenic tumor of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4690"^^xsd:string) AnnotationAssertion(rdfs:label "childhood mediastinal neurogenic tumor"^^xsd:string) SubClassOf( ) # Class: (malignant mediastinal neurogenic neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11154721"^^xsd:string) "A mediastinal cancer that has_material_basis_in neural cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6624"^^xsd:string) AnnotationAssertion( "RDO:9002768"^^xsd:string) AnnotationAssertion( "neurogenic tumor of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4691"^^xsd:string) AnnotationAssertion(rdfs:label "malignant mediastinal neurogenic neoplasm"^^xsd:string) SubClassOf( ) # Class: (endophthalmitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endophthalmitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis"^^xsd:string) Annotation( "https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis"^^xsd:string) "A globe disease that is characterized by inflammation of the inside of the eye. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009877"^^xsd:string) AnnotationAssertion( "NCI:C34586"^^xsd:string) AnnotationAssertion( "Infectious Endophthalmitides"^^xsd:string) AnnotationAssertion( "Infectious Endophthalmitis"^^xsd:string) AnnotationAssertion( "Ophthalmia"^^xsd:string) AnnotationAssertion( "endophthalmitides"^^xsd:string) AnnotationAssertion( "ophthalmias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4692"^^xsd:string) AnnotationAssertion(rdfs:label "endophthalmitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nerve plexus neoplasm) AnnotationAssertion( "NCI:C5822"^^xsd:string) AnnotationAssertion( "RDO:9004107"^^xsd:string) AnnotationAssertion( "neural plexus tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4693"^^xsd:string) AnnotationAssertion(rdfs:label "nerve plexus neoplasm"^^xsd:string) SubClassOf( ) # Class: (intraneural perineurioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10921"^^xsd:string) AnnotationAssertion( "NCI:C6911"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4696"^^xsd:string) AnnotationAssertion(rdfs:label "intraneural perineurioma"^^xsd:string) SubClassOf( ) # Class: (perineurioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:12698"^^xsd:string) AnnotationAssertion( "ICDO:9571/0"^^xsd:string) AnnotationAssertion( "NCI:C4973"^^xsd:string) AnnotationAssertion( "NCI:C6912"^^xsd:string) AnnotationAssertion( "perineuriomas"^^xsd:string) AnnotationAssertion( "soft tissue perineurioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4697"^^xsd:string) AnnotationAssertion(rdfs:label "perineurioma"^^xsd:string) SubClassOf( ) # Class: (nerve root neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5119"^^xsd:string) AnnotationAssertion( "tumor of nerve root"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4698"^^xsd:string) AnnotationAssertion(rdfs:label "nerve root neoplasm"^^xsd:string) SubClassOf( ) # Class: (epicardium cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5347"^^xsd:string) AnnotationAssertion( "RDO:9005076"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5347"^^xsd:string) "Epicardial tumor"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4568"^^xsd:string) "malignant Epicardial tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of epicardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4699"^^xsd:string) AnnotationAssertion(rdfs:label "epicardium cancer"^^xsd:string) SubClassOf( ) # Class: (prostate disease) AnnotationAssertion(Annotation( "MESH:D011469"^^xsd:string) "Pathological processes involving the PROSTATE or its component tissues."^^xsd:string) AnnotationAssertion( "EFO:0009602"^^xsd:string) AnnotationAssertion( "ICD10CM:N42.9"^^xsd:string) AnnotationAssertion( "ICD9CM:602.9"^^xsd:string) AnnotationAssertion( "MESH:D011469"^^xsd:string) AnnotationAssertion( "NCI:C26865"^^xsd:string) AnnotationAssertion( "RDO:0006418"^^xsd:string) AnnotationAssertion( "Prostatic Disease"^^xsd:string) AnnotationAssertion( "Prostatic Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:47"^^xsd:string) AnnotationAssertion(rdfs:label "prostate disease"^^xsd:string) SubClassOf( ) # Class: (verrucous keratotic hemangioma) AnnotationAssertion( "This is a skin hemangioma characterized by the presence of epidermal hyperplasia."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9142/0"^^xsd:string) AnnotationAssertion( "NCI:C4299"^^xsd:string) AnnotationAssertion( "ORDO:464318"^^xsd:string) AnnotationAssertion( "VERRUCOUS VENOUS MALFORMATION"^^xsd:string) AnnotationAssertion( "verrucous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:470"^^xsd:string) AnnotationAssertion(rdfs:label "verrucous keratotic hemangioma"^^xsd:string) SubClassOf( ) # Class: (mongolian spot) AnnotationAssertion(Annotation( "MESH:D049328"^^xsd:string) "A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood."^^xsd:string) AnnotationAssertion( "RDO:0007559"^^xsd:string) AnnotationAssertion( "EFO:1000736"^^xsd:string) AnnotationAssertion( "MESH:D049328"^^xsd:string) AnnotationAssertion( "NCI:C3945"^^xsd:string) AnnotationAssertion( "Mongolian Blue Spot"^^xsd:string) AnnotationAssertion( "Mongolian macula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4702"^^xsd:string) AnnotationAssertion(rdfs:label "mongolian spot"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infratentorial cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tentorium_cerebelli"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68015192"^^xsd:string) "A brain cancer that is located_in the infratentorial region. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.7"^^xsd:string) AnnotationAssertion( "NCI:C3139"^^xsd:string) AnnotationAssertion( "NCI:C4966"^^xsd:string) AnnotationAssertion( "infratentorial brain neoplasm"^^xsd:string) AnnotationAssertion( "infratentorial cancers"^^xsd:string) AnnotationAssertion( "malignant infratentorial tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4706"^^xsd:string) AnnotationAssertion(rdfs:label "infratentorial cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervicomedullary junction neoplasm) AnnotationAssertion( "NCI:C5423"^^xsd:string) AnnotationAssertion( "tumor of the cervicomedullary junction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4707"^^xsd:string) AnnotationAssertion(rdfs:label "cervicomedullary junction neoplasm"^^xsd:string) SubClassOf( ) # Class: (foramen magnum meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5280"^^xsd:string) AnnotationAssertion( "meningioma of the foramen magnum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4708"^^xsd:string) AnnotationAssertion(rdfs:label "foramen magnum meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin hemangioma) AnnotationAssertion( "NCI:C4905"^^xsd:string) AnnotationAssertion( "angioma of the skin"^^xsd:string) AnnotationAssertion( "angiomatous naevus of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:471"^^xsd:string) AnnotationAssertion(rdfs:label "skin hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric neuroendocrine neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000275"^^xsd:string) AnnotationAssertion( "NCI:C24219"^^xsd:string) AnnotationAssertion( "NCI:C5696"^^xsd:string) AnnotationAssertion( "RDO:9004100"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5696"^^xsd:string) "neuroendocrine tumor of the stomach"^^xsd:string) AnnotationAssertion( "Gastric Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4715"^^xsd:string) AnnotationAssertion(rdfs:label "gastric neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) # Class: (malignant gastric germ cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6448"^^xsd:string) AnnotationAssertion( "RDO:9001924"^^xsd:string) AnnotationAssertion( "germ cell tumour of the stomach"^^xsd:string) AnnotationAssertion( "malignant gastric germ cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "germ cell tumor of the stomach"^^xsd:string) AnnotationAssertion( "DOID:4716"^^xsd:string) AnnotationAssertion(rdfs:label "malignant gastric germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (extragonadal germ cell cancer) AnnotationAssertion(Annotation( "http://tcrc.acor.org/egc.html"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell"^^xsd:string) "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3918"^^xsd:string) AnnotationAssertion( "NCI:C8881"^^xsd:string) AnnotationAssertion( "RDO:9003433"^^xsd:string) AnnotationAssertion( "extragonadal germ cell malignant tumor"^^xsd:string) AnnotationAssertion( "neoplasm of Extragonadal germ cell"^^xsd:string) AnnotationAssertion( "tumor of extragonadal germ cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4717"^^xsd:string) AnnotationAssertion(rdfs:label "extragonadal germ cell cancer"^^xsd:string) SubClassOf( ) # Class: (bone giant cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone"^^xsd:string) "A malignant giant cell tumor that is composed_of multinucleated giant cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000347"^^xsd:string) AnnotationAssertion( "NCI:C4304"^^xsd:string) AnnotationAssertion( "giant cell sarcoma of the bone"^^xsd:string) AnnotationAssertion( "malignant giant cell tumor of bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4719"^^xsd:string) AnnotationAssertion(rdfs:label "bone giant cell sarcoma"^^xsd:string) SubClassOf( ) # Class: (subglottic angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6026"^^xsd:string) AnnotationAssertion( "hemangioma of the subglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:472"^^xsd:string) AnnotationAssertion(rdfs:label "subglottic angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial hypotension) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Intracranial_pressure"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak"^^xsd:string) "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000993"^^xsd:string) AnnotationAssertion( "ICD10CM:G96.81"^^xsd:string) AnnotationAssertion( "MESH:D019585"^^xsd:string) AnnotationAssertion( "CSF Hypovolemia"^^xsd:string) AnnotationAssertion( "CSF Hypovolemias"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Hypovolemia"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Hypovolemias"^^xsd:string) AnnotationAssertion( "Essential Intracranial Hypotension"^^xsd:string) AnnotationAssertion( "Secondary Intracranial Hypotension"^^xsd:string) AnnotationAssertion( "Spontaneous Intracranial Hypotension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4723"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial hypotension"^^xsd:string) SubClassOf( ) # Class: (brain edema) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_edema"^^xsd:string) "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000845"^^xsd:string) AnnotationAssertion( "MESH:D001929"^^xsd:string) AnnotationAssertion( "Brain Swelling"^^xsd:string) AnnotationAssertion( "Cerebral Edema"^^xsd:string) AnnotationAssertion( "Cerebral Edemas, Vasogenic"^^xsd:string) AnnotationAssertion( "Cytotoxic Brain Edema"^^xsd:string) AnnotationAssertion( "Cytotoxic Cerebral Edema"^^xsd:string) AnnotationAssertion( "Intracranial Edema"^^xsd:string) AnnotationAssertion( "Vasogenic Brain Edema"^^xsd:string) AnnotationAssertion( "brain swellings"^^xsd:string) AnnotationAssertion( "intracranial swelling"^^xsd:string) AnnotationAssertion( "vasogenic cerebral edema"^^xsd:string) AnnotationAssertion( "wet brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4724"^^xsd:string) AnnotationAssertion(rdfs:label "brain edema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vasomotor rhinitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rhinitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis"^^xsd:string) "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007533"^^xsd:string) AnnotationAssertion( "ICD10CM:J30.0"^^xsd:string) AnnotationAssertion( "MESH:D012223"^^xsd:string) AnnotationAssertion( "NCI:C34988"^^xsd:string) AnnotationAssertion( "vasomotor rhinitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4730"^^xsd:string) AnnotationAssertion(rdfs:label "vasomotor rhinitis"^^xsd:string) SubClassOf( ) # Class: (atrophic rhinitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/atrophic_rhinitis"^^xsd:string) Annotation( "http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf"^^xsd:string) "A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007159"^^xsd:string) AnnotationAssertion( "MESH:D012222"^^xsd:string) AnnotationAssertion( "Ozaena"^^xsd:string) AnnotationAssertion( "Ozena"^^xsd:string) AnnotationAssertion( "atrophic rhinitides"^^xsd:string) AnnotationAssertion( "dry rhinitis"^^xsd:string) AnnotationAssertion( "ozenas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "rhinitis sicca"^^xsd:string) AnnotationAssertion( "DOID:4731"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic rhinitis"^^xsd:string) SubClassOf( ) # Class: (calciphylaxis) AnnotationAssertion(Annotation( "MESH:D002115"^^xsd:string) "Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification."^^xsd:string) AnnotationAssertion( "GARD:5980"^^xsd:string) AnnotationAssertion( "MESH:D002115"^^xsd:string) AnnotationAssertion( "NCI:C84607"^^xsd:string) AnnotationAssertion( "RDO:0005093"^^xsd:string) AnnotationAssertion( "Calciphylaxes"^^xsd:string) AnnotationAssertion( "Idiopathic Calciphylaxis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4734"^^xsd:string) AnnotationAssertion(rdfs:label "calciphylaxis"^^xsd:string) SubClassOf( ) # Class: (somatoform disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Somatoform_disorder"^^xsd:string) "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D011602"^^xsd:string) AnnotationAssertion( "EFO:0009687"^^xsd:string) AnnotationAssertion( "ICD10CM:F45"^^xsd:string) AnnotationAssertion( "ICD9CM:300.8"^^xsd:string) AnnotationAssertion( "MESH:D013001"^^xsd:string) AnnotationAssertion( "NCI:C34956"^^xsd:string) AnnotationAssertion( "Briquet syndrome"^^xsd:string) AnnotationAssertion( "medically unexplained syndrome"^^xsd:string) AnnotationAssertion( "medically unexplained syndromes"^^xsd:string) AnnotationAssertion( "physiological malfunction arising from mental factor"^^xsd:string) AnnotationAssertion( "psychophysiologic disorder"^^xsd:string) AnnotationAssertion( "psychophysiologic disorders"^^xsd:string) AnnotationAssertion( "psychophysiological disorder"^^xsd:string) AnnotationAssertion( "psychophysiological disorders"^^xsd:string) AnnotationAssertion( "psychosomatic disorder"^^xsd:string) AnnotationAssertion( "psychosomatic disorders"^^xsd:string) AnnotationAssertion( "somatoform disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4737"^^xsd:string) AnnotationAssertion(rdfs:label "somatoform disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular Brenner tumor) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/"^^xsd:string) "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39953"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4739"^^xsd:string) AnnotationAssertion(rdfs:label "testicular Brenner tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histiocytoid hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4298"^^xsd:string) AnnotationAssertion( "angiolymphoid hyperplasia with eosinophilia"^^xsd:string) AnnotationAssertion( "epithelioid haemangioma"^^xsd:string) AnnotationAssertion( "epithelioid hemangioma"^^xsd:string) AnnotationAssertion( "histiocytoid hemangiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:474"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytoid hemangioma"^^xsd:string) SubClassOf( ) # Class: (mixed testicular germ cell tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor"^^xsd:string) "A mixed germ cell cancer that is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010831"^^xsd:string) AnnotationAssertion( "NCI:C6347"^^xsd:string) AnnotationAssertion( "mixed germ cell tumor of testis"^^xsd:string) AnnotationAssertion( "mixed germ cell tumour of testis"^^xsd:string) AnnotationAssertion( "mixed testicular germ cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4743"^^xsd:string) AnnotationAssertion(rdfs:label "mixed testicular germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (placenta accreta) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Placenta_accreta"^^xsd:string) "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007440"^^xsd:string) AnnotationAssertion( "ICD10CM:O43.21"^^xsd:string) AnnotationAssertion( "MESH:D010921"^^xsd:string) AnnotationAssertion( "NCI:C26856"^^xsd:string) AnnotationAssertion( "placenta increta"^^xsd:string) AnnotationAssertion( "placenta percreta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4744"^^xsd:string) AnnotationAssertion(rdfs:label "placenta accreta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle cranial fossa meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5586"^^xsd:string) AnnotationAssertion( "RDO:9004622"^^xsd:string) AnnotationAssertion( "meningioma of the middle cranial fossa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4749"^^xsd:string) AnnotationAssertion(rdfs:label "middle cranial fossa meningioma"^^xsd:string) SubClassOf( ) # Class: (striatonigral degeneration) AnnotationAssertion(Annotation( "MESH:D020955"^^xsd:string) "A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"^^xsd:string) AnnotationAssertion( "ICD10CM:G23.2"^^xsd:string) AnnotationAssertion( "MESH:D020955"^^xsd:string) AnnotationAssertion( "MIM:PS271930"^^xsd:string) AnnotationAssertion( "NCI:C125695"^^xsd:string) AnnotationAssertion( "striatonigral atrophies"^^xsd:string) AnnotationAssertion( "striatonigral atrophy"^^xsd:string) AnnotationAssertion( "striatonigral degenerations"^^xsd:string) AnnotationAssertion( "bilateral striatal necrosis with dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4751"^^xsd:string) AnnotationAssertion(rdfs:label "striatonigral degeneration"^^xsd:string) SubClassOf( ) # Class: (multiple system atrophy) AnnotationAssertion(Annotation( "MESH:D019578"^^xsd:string) "A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)"^^xsd:string) AnnotationAssertion( "EFO:0002505"^^xsd:string) AnnotationAssertion( "EFO:1001050"^^xsd:string) AnnotationAssertion( "GARD:7079"^^xsd:string) AnnotationAssertion( "MESH:D019578"^^xsd:string) AnnotationAssertion( "NCI:C84909"^^xsd:string) AnnotationAssertion( "NCI:C85066"^^xsd:string) AnnotationAssertion( "multiple system atrophies"^^xsd:string) AnnotationAssertion( "multiple system atrophy syndrome"^^xsd:string) AnnotationAssertion( "multisystem atrophies"^^xsd:string) AnnotationAssertion( "multisystem atrophy"^^xsd:string) AnnotationAssertion( "multisystemic atrophies"^^xsd:string) AnnotationAssertion( "multisystemic atrophy"^^xsd:string) AnnotationAssertion( "MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4752"^^xsd:string) AnnotationAssertion(rdfs:label "multiple system atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (testicular Leydig cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:6021"^^xsd:string) AnnotationAssertion( "EFO:1000569"^^xsd:string) AnnotationAssertion( "NCI:C39942"^^xsd:string) AnnotationAssertion( "NCI:C6356"^^xsd:string) AnnotationAssertion( "testicular Leydig cell neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4756"^^xsd:string) AnnotationAssertion(rdfs:label "testicular Leydig cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular sex cord-stromal neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.10e&code=C6358&ns=ncit&type=relationship&key=null&b=1&n=0&vse=null"^^xsd:string) "A sex cord-gonadal stromal tumor that is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39948"^^xsd:string) AnnotationAssertion( "sex cord-stromal tumor of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4757"^^xsd:string) AnnotationAssertion(rdfs:label "testicular sex cord-stromal neoplasm"^^xsd:string) SubClassOf( ) # Class: (breast hemangioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22434703"^^xsd:string) "A breast benign neoplasm that is characterized by a collection of excess blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5353"^^xsd:string) AnnotationAssertion( "RDO:9004245"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5353"^^xsd:string) "Angioma of the breast"^^xsd:string) AnnotationAssertion( "hemangioma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:476"^^xsd:string) AnnotationAssertion(rdfs:label "breast hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vasculogenic impotence) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33227246/"^^xsd:string) "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001234"^^xsd:string) AnnotationAssertion( "MESH:D018783"^^xsd:string) AnnotationAssertion( "Penile Venous Leakage"^^xsd:string) AnnotationAssertion( "arteriogenic impotence"^^xsd:string) AnnotationAssertion( "venogenic impotence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4762"^^xsd:string) AnnotationAssertion(rdfs:label "vasculogenic impotence"^^xsd:string) SubClassOf( ) # Class: (pulmonary blastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=446557"^^xsd:string) "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007458"^^xsd:string) AnnotationAssertion( "ICDO:8972/3"^^xsd:string) AnnotationAssertion( "MESH:D018202"^^xsd:string) AnnotationAssertion( "NCI:C3732"^^xsd:string) AnnotationAssertion( "blastoma of lung"^^xsd:string) AnnotationAssertion( "pulmonary blastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4765"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary blastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (embryoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryoma"^^xsd:string) "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8997"^^xsd:string) AnnotationAssertion( "RDO:9003437"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4766"^^xsd:string) AnnotationAssertion(rdfs:label "embryoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (classic pulmonary blastoma) AnnotationAssertion( "NCI:C36054"^^xsd:string) AnnotationAssertion( "biphasic pulmonary blastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4767"^^xsd:string) AnnotationAssertion(rdfs:label "classic pulmonary blastoma"^^xsd:string) SubClassOf( ) # Class: (epithelial predominant pulmonary blastoma) AnnotationAssertion( "NCI:C36053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4768"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial predominant pulmonary blastoma"^^xsd:string) SubClassOf( ) # Class: (pleuropulmonary blastoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30480950"^^xsd:string) "A pulmonary blastoma that derives_from the lung or pleural cavity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009052"^^xsd:string) AnnotationAssertion( "GARD:8757"^^xsd:string) AnnotationAssertion( "ICDO:8973/3"^^xsd:string) AnnotationAssertion( "MESH:C537516"^^xsd:string) AnnotationAssertion( "NCI:C5669"^^xsd:string) AnnotationAssertion( "ORDO:64742"^^xsd:string) AnnotationAssertion( "DICER1-RELATED PLEUROPULMONARY BLASTOMA CANCER PREDISPOSITION SYNDROME"^^xsd:string) AnnotationAssertion( "PPB"^^xsd:string) AnnotationAssertion( "PPB familial tumor and dysplasia syndrome"^^xsd:string) AnnotationAssertion( "PPBFTDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4769"^^xsd:string) AnnotationAssertion(rdfs:label "pleuropulmonary blastoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital mesoblastic nephroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/"^^xsd:string) "A kidney cancer that is characterized by the presence of fibroblastic cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-20T18:03:48Z"^^xsd:string) AnnotationAssertion( "DOID:4772"^^xsd:string) AnnotationAssertion( "EFO:0007365"^^xsd:string) AnnotationAssertion( "GARD:1493"^^xsd:string) AnnotationAssertion( "MESH:D018201"^^xsd:string) AnnotationAssertion( "NCI:C6569"^^xsd:string) AnnotationAssertion( "ORDO:2665"^^xsd:string) AnnotationAssertion( "congenital mesoblastic nephromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4773"^^xsd:string) AnnotationAssertion(rdfs:label "congenital mesoblastic nephroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rapidly progressive glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N01"^^xsd:string) AnnotationAssertion( "NCI:C35264"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4776"^^xsd:string) AnnotationAssertion(rdfs:label "rapidly progressive glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (exudative glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35706"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4777"^^xsd:string) AnnotationAssertion(rdfs:label "exudative glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (proliferative glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35281"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4778"^^xsd:string) AnnotationAssertion(rdfs:label "proliferative glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (focal embolic glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35707"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4779"^^xsd:string) AnnotationAssertion(rdfs:label "focal embolic glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (anti-basement membrane glomerulonephritis) AnnotationAssertion(Annotation( "https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/"^^xsd:string) "A Goodpasture syndrome that is characterized by damage to only kidney capillaries. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D019867"^^xsd:string) AnnotationAssertion( "NCI:C35798"^^xsd:string) AnnotationAssertion( "anti-GBM glomerulonephritis"^^xsd:string) AnnotationAssertion( "anti-GBM nephritis"^^xsd:string) AnnotationAssertion( "anti-glomerular basement membrane glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4780"^^xsd:string) AnnotationAssertion(rdfs:label "anti-basement membrane glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4781"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (subacute glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35801"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4782"^^xsd:string) AnnotationAssertion(rdfs:label "subacute glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (mesangial proliferative glomerulonephritis) AnnotationAssertion( "Inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX."^^xsd:string) AnnotationAssertion( "GARD:9580"^^xsd:string) AnnotationAssertion( "NCI:C35445"^^xsd:string) AnnotationAssertion( "mesangioproliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4783"^^xsd:string) AnnotationAssertion(rdfs:label "mesangial proliferative glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (immune-complex glomerulonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4784"^^xsd:string) AnnotationAssertion(rdfs:label "immune-complex glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (cerebellopontine angle primitive neuroectodermal tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5436"^^xsd:string) AnnotationAssertion( "cerebellopontine angle PNET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4787"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellopontine angle primitive neuroectodermal tumor"^^xsd:string) SubClassOf( ) # Class: (intracranial primitive neuroectodermal tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5817"^^xsd:string) AnnotationAssertion( "intracranial PNET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4788"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial primitive neuroectodermal tumor"^^xsd:string) SubClassOf( ) # Class: (angiokeratoma) AnnotationAssertion(Annotation( "MESH:D000794"^^xsd:string) "A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis."^^xsd:string) AnnotationAssertion( "ICDO:9141/0"^^xsd:string) AnnotationAssertion( "MESH:D000794"^^xsd:string) AnnotationAssertion( "NCI:C2874"^^xsd:string) AnnotationAssertion( "NCI:C4488"^^xsd:string) AnnotationAssertion( "Angiokeratomas"^^xsd:string) AnnotationAssertion( "angiokeratoma of skin"^^xsd:string) AnnotationAssertion( "cutaneous angiokeratoma"^^xsd:string) AnnotationAssertion( "skin angiokeratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:479"^^xsd:string) AnnotationAssertion(rdfs:label "angiokeratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (medulloepithelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9501/3"^^xsd:string) AnnotationAssertion( "NCI:C4327"^^xsd:string) AnnotationAssertion( "NCI:C66808"^^xsd:string) AnnotationAssertion( "central nervous system medulloepithelioma"^^xsd:string) AnnotationAssertion( "malignant diktyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4790"^^xsd:string) AnnotationAssertion(rdfs:label "medulloepithelioma"^^xsd:string) SubClassOf( ) # Class: (supratentorial primitive neuroectodermal tumor) AnnotationAssertion( "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. (MONDO)"^^xsd:string) AnnotationAssertion( "GARD:7366"^^xsd:string) AnnotationAssertion( "MONDO:0003145"^^xsd:string) AnnotationAssertion( "NCI:C6968"^^xsd:string) AnnotationAssertion( "supratentorial PNET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4791"^^xsd:string) AnnotationAssertion(rdfs:label "supratentorial primitive neuroectodermal tumor"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (GM2 Gangliosidosis, AB variant) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant"^^xsd:string) "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272750"^^xsd:string) AnnotationAssertion( "MESH:D049290"^^xsd:string) AnnotationAssertion( "NCI:C133084"^^xsd:string) AnnotationAssertion( "Activator Deficiency GM2 Gangliosidosis"^^xsd:string) AnnotationAssertion( "Activator Deficient Tay Sachs Disease"^^xsd:string) AnnotationAssertion( "Activator-Deficient Tay-Sachs Diseases"^^xsd:string) AnnotationAssertion( "GM2 Activator Deficiencies"^^xsd:string) AnnotationAssertion( "GM2 Activator Deficiency"^^xsd:string) AnnotationAssertion( "GM2 Activator Deficiency Disease"^^xsd:string) AnnotationAssertion( "GM2 Protein Activator Deficiency Disease"^^xsd:string) AnnotationAssertion( "GM2 gangliosidoses, AB variant"^^xsd:string) AnnotationAssertion( "Gangliosidosis GM2, Type AB"^^xsd:string) AnnotationAssertion( "Hexosaminidase Activator Deficiencies"^^xsd:string) AnnotationAssertion( "Hexosaminidase Activator Deficiency"^^xsd:string) AnnotationAssertion( "Tay-Sachs disease AB variant"^^xsd:string) AnnotationAssertion( "hexosaminidase activator protein deficiency disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4795"^^xsd:string) AnnotationAssertion(rdfs:label "GM2 Gangliosidosis, AB variant"^^xsd:string) SubClassOf( ) # Class: (space motion sickness) AnnotationAssertion(Annotation( "MESH:D018489"^^xsd:string) "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)"^^xsd:string) AnnotationAssertion( "EFO:1001188"^^xsd:string) AnnotationAssertion( "MESH:D018489"^^xsd:string) AnnotationAssertion( "Space Adaptation Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4796"^^xsd:string) AnnotationAssertion(rdfs:label "space motion sickness"^^xsd:string) SubClassOf( ) # Class: (SM-AHNMD) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000559"^^xsd:string) AnnotationAssertion( "NCI:C9284"^^xsd:string) AnnotationAssertion( "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease"^^xsd:string) AnnotationAssertion( "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4797"^^xsd:string) AnnotationAssertion(rdfs:label "SM-AHNMD"^^xsd:string) SubClassOf( ) # Class: (aggressive systemic mastocytosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C96.21"^^xsd:string) AnnotationAssertion( "NCI:C9285"^^xsd:string) AnnotationAssertion( "ASM"^^xsd:string) AnnotationAssertion( "aggressive systemic mastocytoses"^^xsd:string) AnnotationAssertion( "lymphadenopathic mastocytosis with eosinophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4798"^^xsd:string) AnnotationAssertion(rdfs:label "aggressive systemic mastocytosis"^^xsd:string) SubClassOf( ) # Class: (male reproductive system disease) AnnotationAssertion(Annotation( "https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/"^^xsd:string) "A reproductive system disease that affects male reproductive organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009555"^^xsd:string) AnnotationAssertion( "ICD10CM:N50.9"^^xsd:string) AnnotationAssertion( "ICD9CM:608.9"^^xsd:string) AnnotationAssertion( "MESH:D005832"^^xsd:string) AnnotationAssertion( "male genital disease"^^xsd:string) AnnotationAssertion( "male genital diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:48"^^xsd:string) AnnotationAssertion(rdfs:label "male reproductive system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (movement disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Movement_disorders"^^xsd:string) "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004280"^^xsd:string) AnnotationAssertion( "MESH:D009069"^^xsd:string) AnnotationAssertion( "NCI:C116757"^^xsd:string) AnnotationAssertion( "Dyskinesia Syndrome"^^xsd:string) AnnotationAssertion( "Etat Marbre"^^xsd:string) AnnotationAssertion( "Movement Disorder"^^xsd:string) AnnotationAssertion( "Movement Disorder Syndrome"^^xsd:string) AnnotationAssertion( "Movement Disorder Syndromes"^^xsd:string) AnnotationAssertion( "Movement Disorders"^^xsd:string) AnnotationAssertion( "dyskinesia syndromes"^^xsd:string) AnnotationAssertion( "status marmoratus"^^xsd:string) AnnotationAssertion( "Oral Dyskinesia"^^xsd:string) AnnotationAssertion( "Oral Dyskinesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:480"^^xsd:string) AnnotationAssertion(rdfs:label "movement disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebrotendinous xanthomatosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1409/"^^xsd:string) "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5622"^^xsd:string) AnnotationAssertion( "MESH:D019294"^^xsd:string) AnnotationAssertion( "MIM:213700"^^xsd:string) AnnotationAssertion( "MONDO:0008948"^^xsd:string) AnnotationAssertion( "NCI:C84628"^^xsd:string) AnnotationAssertion( "ORDO:909"^^xsd:string) AnnotationAssertion( "CTX"^^xsd:string) AnnotationAssertion( "Van Bogaert Scherer Epstein disease"^^xsd:string) AnnotationAssertion( "cerebral cholesterinoses"^^xsd:string) AnnotationAssertion( "cerebral cholesterinosis"^^xsd:string) AnnotationAssertion( "cerebrotendinous xanthomatoses"^^xsd:string) AnnotationAssertion( "cholestanol storage disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4810"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrotendinous xanthomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult brainstem gliosarcoma) AnnotationAssertion( "NCI:C9370"^^xsd:string) AnnotationAssertion( "adult brain stem gliosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4812"^^xsd:string) AnnotationAssertion(rdfs:label "adult brainstem gliosarcoma"^^xsd:string) SubClassOf( ) # Class: (adult brain stem glioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brainstem_glioma"^^xsd:string) "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C9091"^^xsd:string) AnnotationAssertion( "adult Brainstem Neuroglial tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4813"^^xsd:string) AnnotationAssertion(rdfs:label "adult brain stem glioma"^^xsd:string) SubClassOf( ) # Class: (ganglioneuroma) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/001437.htm"^^xsd:string) "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000500"^^xsd:string) AnnotationAssertion( "ICDO:9490/0"^^xsd:string) AnnotationAssertion( "MESH:D005729"^^xsd:string) AnnotationAssertion( "NCI:C3049"^^xsd:string) AnnotationAssertion( "NCI:C42065"^^xsd:string) AnnotationAssertion( "Gangliocytoma"^^xsd:string) AnnotationAssertion( "Gangliocytomas"^^xsd:string) AnnotationAssertion( "Ganglioneuromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4817"^^xsd:string) AnnotationAssertion(rdfs:label "ganglioneuroma"^^xsd:string) SubClassOf( ) # Class: (hemangioma of peripheral nerve) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003154"^^xsd:string) AnnotationAssertion( "NCI:C27507"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:482"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of peripheral nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosquamous lung carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma"^^xsd:string) "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000233"^^xsd:string) AnnotationAssertion( "NCI:C9133"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4829"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous lung carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cavernous hemangioma) AnnotationAssertion(Annotation( "MESH:D006392"^^xsd:string) "A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system."^^xsd:string) AnnotationAssertion( "EFO:1000151"^^xsd:string) AnnotationAssertion( "EFO:1000530"^^xsd:string) AnnotationAssertion( "ICD10CM:D18.0"^^xsd:string) AnnotationAssertion( "ICDO:9121/0"^^xsd:string) AnnotationAssertion( "MESH:D006392"^^xsd:string) AnnotationAssertion( "NCI:C3086"^^xsd:string) AnnotationAssertion( "Cavernous Angioma"^^xsd:string) AnnotationAssertion( "Cavernous Hemangiomas"^^xsd:string) AnnotationAssertion( "Strawberry Hemangioma"^^xsd:string) AnnotationAssertion( "Strawberry Hemangiomas"^^xsd:string) AnnotationAssertion( "cavernoma"^^xsd:string) AnnotationAssertion( "cavernous haemangioma"^^xsd:string) AnnotationAssertion( "Skin Cavernous Hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:483"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/"^^xsd:string) "A squamous cell carcinoma that contains squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000073"^^xsd:string) AnnotationAssertion( "ICDO:8560/3"^^xsd:string) AnnotationAssertion( "MESH:D018196"^^xsd:string) AnnotationAssertion( "NCI:C3727"^^xsd:string) AnnotationAssertion( "adenosquamous carcinomas"^^xsd:string) AnnotationAssertion( "adenosquamous cell carcinoma"^^xsd:string) AnnotationAssertion( "mixed adenocarcinoma and squamous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4830"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gorham's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gorham%27s_disease"^^xsd:string) Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease"^^xsd:string) "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. (DO)"^^xsd:string) AnnotationAssertion( "MIM:123880"^^xsd:string) AnnotationAssertion( "GARD:6542"^^xsd:string) AnnotationAssertion( "MESH:D010015"^^xsd:string) AnnotationAssertion( "Disappearing Bone Disease"^^xsd:string) AnnotationAssertion( "GSD"^^xsd:string) AnnotationAssertion( "Gorham Disease"^^xsd:string) AnnotationAssertion( "Gorham-Stout Disease"^^xsd:string) AnnotationAssertion( "Idiopathic Multicentric Osteolyses"^^xsd:string) AnnotationAssertion( "Idiopathic Multicentric Osteolysis"^^xsd:string) AnnotationAssertion( "Massive Osteolyses"^^xsd:string) AnnotationAssertion( "diffuse cystic angiomatosis of bone"^^xsd:string) AnnotationAssertion( "essential osteolyses"^^xsd:string) AnnotationAssertion( "essential osteolysis"^^xsd:string) AnnotationAssertion( "massive osteolysis"^^xsd:string) AnnotationAssertion( "phantom bone disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Gorham-Stout Syndrome"^^xsd:string) AnnotationAssertion( "DOID:4837"^^xsd:string) AnnotationAssertion(rdfs:label "Gorham's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myoepithelial carcinoma) AnnotationAssertion(Annotation( "http://www.diagnosticpathology.org/content/3/1/7"^^xsd:string) "A carcinoma that derives_from myoepithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10558"^^xsd:string) AnnotationAssertion( "ICDO:8982/3"^^xsd:string) AnnotationAssertion( "NCI:C7596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4838"^^xsd:string) AnnotationAssertion(rdfs:label "myoepithelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (sebaceous adenocarcinoma) AnnotationAssertion(Annotation( "MESH:D018266"^^xsd:string) "A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)"^^xsd:string) AnnotationAssertion( "EFO:1001171"^^xsd:string) AnnotationAssertion( "MESH:D018266"^^xsd:string) AnnotationAssertion( "NCI:C40310"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the sebaceous gland"^^xsd:string) AnnotationAssertion( "sebaceous adenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4839"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vascular hemostatic disease) AnnotationAssertion(Annotation( "MESH:D020141"^^xsd:string) "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS."^^xsd:string) AnnotationAssertion( "MESH:D020141"^^xsd:string) AnnotationAssertion( "RDO:0005300"^^xsd:string) AnnotationAssertion( "Hemostatic Disorder"^^xsd:string) AnnotationAssertion( "Hemostatic Disorders"^^xsd:string) AnnotationAssertion( "Vascular Hemostatic Disorder"^^xsd:string) AnnotationAssertion( "Vascular Hemostatic Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:484"^^xsd:string) AnnotationAssertion(rdfs:label "vascular hemostatic disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sebaceous carcinoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957"^^xsd:string) "A skin cancer that arises from the sebaceous glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000405"^^xsd:string) AnnotationAssertion( "ICD10CM:C44"^^xsd:string) AnnotationAssertion( "ICDO:8410/3"^^xsd:string) AnnotationAssertion( "NCI:C8409"^^xsd:string) AnnotationAssertion( "Malignant Sebaceous Neoplasm"^^xsd:string) AnnotationAssertion( "malignant neoplasm of sebaceous gland"^^xsd:string) AnnotationAssertion( "malignant sebaceous tumor"^^xsd:string) AnnotationAssertion( "Ocular Sebaceous Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4840"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (subependymal glioma) AnnotationAssertion(Annotation( "MESH:D018315"^^xsd:string) "Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)"^^xsd:string) AnnotationAssertion( "EFO:1000553"^^xsd:string) AnnotationAssertion( "EFO:1001197"^^xsd:string) AnnotationAssertion( "ICDO:9383/1"^^xsd:string) AnnotationAssertion( "MESH:D018315"^^xsd:string) AnnotationAssertion( "NCI:C3795"^^xsd:string) AnnotationAssertion( "Adult Subependymal Astrocytoma"^^xsd:string) AnnotationAssertion( "Subependymal Astrocytoma"^^xsd:string) AnnotationAssertion( "Subependymal Astrocytomas"^^xsd:string) AnnotationAssertion( "Subependymal Gliomas"^^xsd:string) AnnotationAssertion( "Subependymal Glioses"^^xsd:string) AnnotationAssertion( "Subependymal Gliosis"^^xsd:string) AnnotationAssertion( "Subependymoma"^^xsd:string) AnnotationAssertion( "Subependymomas"^^xsd:string) AnnotationAssertion( "WHO grade I ependymal tumor"^^xsd:string) AnnotationAssertion( "adult subependymal astrocytomas"^^xsd:string) AnnotationAssertion( "mixed subependymoma-ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4843"^^xsd:string) AnnotationAssertion(rdfs:label "subependymal glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3017"^^xsd:string) AnnotationAssertion( "WHO grade II ependymal tumor"^^xsd:string) AnnotationAssertion( "epithelial ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4844"^^xsd:string) AnnotationAssertion(rdfs:label "benign ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pilomyxoid astrocytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30945015/"^^xsd:string) Annotation( "https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us"^^xsd:string) "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9425/3"^^xsd:string) AnnotationAssertion( "NCI:C40315"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4845"^^xsd:string) AnnotationAssertion(rdfs:label "pilomyxoid astrocytoma"^^xsd:string) SubClassOf( ) # Class: (cauda equina intradural extramedullary astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5408"^^xsd:string) AnnotationAssertion( "intradural extramedullary astrocytic tumor of the cauda equina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4846"^^xsd:string) AnnotationAssertion(rdfs:label "cauda equina intradural extramedullary astrocytoma"^^xsd:string) SubClassOf( ) # Class: (cauda equina neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5479"^^xsd:string) AnnotationAssertion( "tumor of the cauda equina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4847"^^xsd:string) AnnotationAssertion(rdfs:label "cauda equina neoplasm"^^xsd:string) SubClassOf( ) # Class: (cerebellar astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9475"^^xsd:string) AnnotationAssertion( "astrocytoma of cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4848"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pilocytic astrocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pilocytic_astrocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44341"^^xsd:string) "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9808"^^xsd:string) AnnotationAssertion( "NCI:C4047"^^xsd:string) AnnotationAssertion( "ORDO:251612"^^xsd:string) AnnotationAssertion( "grade I astrocytic tumor"^^xsd:string) AnnotationAssertion( "piloid astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pilocytic astrocytoma, somatic"^^xsd:string) AnnotationAssertion( "DOID:4851"^^xsd:string) AnnotationAssertion(rdfs:label "pilocytic astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleomorphic xanthoastrocytoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma"^^xsd:string) "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-12-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9424/3"^^xsd:string) AnnotationAssertion( "NCI:C4323"^^xsd:string) AnnotationAssertion( "PXA"^^xsd:string) AnnotationAssertion( "Pleomorphic Xantho-astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4852"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic xanthoastrocytoma"^^xsd:string) SubClassOf( ) # Class: (pilocytic astrocytoma of cerebellum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6809"^^xsd:string) AnnotationAssertion( "cerebellar pilocytic astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4853"^^xsd:string) AnnotationAssertion(rdfs:label "pilocytic astrocytoma of cerebellum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diencephalic astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5128"^^xsd:string) AnnotationAssertion( "astrocytoma of diencephalon"^^xsd:string) AnnotationAssertion( "diencephalic astrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4855"^^xsd:string) AnnotationAssertion(rdfs:label "diencephalic astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gliofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9442/1"^^xsd:string) AnnotationAssertion( "NCI:C5419"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4856"^^xsd:string) AnnotationAssertion(rdfs:label "gliofibroma"^^xsd:string) SubClassOf( ) # Class: (diffuse astrocytoma) AnnotationAssertion(Annotation( "https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii"^^xsd:string) "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T22:56:11Z"^^xsd:string) AnnotationAssertion( "NCI:C7173"^^xsd:string) AnnotationAssertion( "WHO grade II astrocytoma"^^xsd:string) AnnotationAssertion( "diffuse astrocytoma, low grade"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4857"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse astrocytoma"^^xsd:string) SubClassOf( ) # Class: (pineal gland astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8274"^^xsd:string) AnnotationAssertion( "pineal astrocytic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4858"^^xsd:string) AnnotationAssertion(rdfs:label "pineal gland astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomeruloid hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27505"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:486"^^xsd:string) AnnotationAssertion(rdfs:label "glomeruloid hemangioma"^^xsd:string) SubClassOf( ) # Class: (brain stem astrocytic neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Astrocytoma"^^xsd:string) "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7445"^^xsd:string) AnnotationAssertion( "brainstem astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4860"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem astrocytic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000544"^^xsd:string) AnnotationAssertion( "NCI:C4641"^^xsd:string) AnnotationAssertion( "RDO:9003310"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4641"^^xsd:string) "Spinal astrocytoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254948003"^^xsd:string) "astrocytoma of spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4863"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (salivary gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/"^^xsd:string) "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C2970"^^xsd:string) AnnotationAssertion( "NCI:C8026"^^xsd:string) AnnotationAssertion( "adenoid cystic cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4866"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26090035"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28348909"^^xsd:string) "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000161"^^xsd:string) AnnotationAssertion( "NCI:C6346"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4867"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (prostate adenoid cystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5539"^^xsd:string) AnnotationAssertion( "RDO:9001827"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of prostate"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4868"^^xsd:string) AnnotationAssertion(rdfs:label "prostate adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngeal adenoid cystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000319"^^xsd:string) AnnotationAssertion( "NCI:C9462"^^xsd:string) AnnotationAssertion( "RDO:9003916"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4869"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lacrimal gland adenoid cystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000317"^^xsd:string) AnnotationAssertion( "NCI:C4540"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of lacrimal gland"^^xsd:string) AnnotationAssertion( "DOID:4870"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (cutaneous adenocystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4471"^^xsd:string) AnnotationAssertion( "adenoid cystic eccrine carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of the skin"^^xsd:string) AnnotationAssertion( "adenoid cystic eccrine carcinoma (morphologic abnormality)"^^xsd:string) AnnotationAssertion( "adenoid cystic eccrine carcinoma of skin"^^xsd:string) AnnotationAssertion( "DOID:4871"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous adenocystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung adenoid cystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5666"^^xsd:string) AnnotationAssertion( "RDO:9001996"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of lung"^^xsd:string) AnnotationAssertion( "pulmonary adenoid cystic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4872"^^xsd:string) AnnotationAssertion(rdfs:label "lung adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (anterior horn cell disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:335"^^xsd:string) AnnotationAssertion( "RDO:9002735"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4873"^^xsd:string) AnnotationAssertion(rdfs:label "anterior horn cell disease"^^xsd:string) SubClassOf( ) # Class: (trachea adenoid cystic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000598"^^xsd:string) AnnotationAssertion( "NCI:C6051"^^xsd:string) AnnotationAssertion( "RDO:9002269"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6051"^^xsd:string) "Tracheal adenoid cystic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of trachea"^^xsd:string) AnnotationAssertion( "DOID:4875"^^xsd:string) AnnotationAssertion(rdfs:label "trachea adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (trachea carcinoma) AnnotationAssertion(Annotation( "http://nci.nih.gov/dictionary/?CdrID=46623"^^xsd:string) "A tracheal cancer that effects the airway that leads from the larynx to the bronchi. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000599"^^xsd:string) AnnotationAssertion( "Pancoast's tumor"^^xsd:string) AnnotationAssertion( "carcinoma of the trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4876"^^xsd:string) AnnotationAssertion(rdfs:label "trachea carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/"^^xsd:string) "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000071"^^xsd:string) AnnotationAssertion( "NCI:C5130"^^xsd:string) AnnotationAssertion( "adenoid cystic breast carcinoma"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of breast"^^xsd:string) AnnotationAssertion( "mammary adenocystic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4877"^^xsd:string) AnnotationAssertion(rdfs:label "breast adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (esophageal adenoid cystic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma"^^xsd:string) "An esophageal carcinoma that derives_from epithelial cells of the salivary gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5342"^^xsd:string) AnnotationAssertion( "RDO:9002301"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5342"^^xsd:string) "adenoid cystic carcinoma, esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4878"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (Bartholin's gland adenoid cystic carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17488169"^^xsd:string) "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40295"^^xsd:string) AnnotationAssertion( "Bartholin gland adenoid cystic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4879"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: (kidney clear cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=44997"^^xsd:string) "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000350"^^xsd:string) AnnotationAssertion( "NCI:C4264"^^xsd:string) AnnotationAssertion( "ORDO:457246"^^xsd:string) AnnotationAssertion( "childhood kidney clear cell sarcoma"^^xsd:string) AnnotationAssertion( "clear cell sarcoma of kidney"^^xsd:string) AnnotationAssertion( "clear cell sarcoma of the kidney"^^xsd:string) AnnotationAssertion( "pediatric renal clear cell sarcoma"^^xsd:string) AnnotationAssertion( "renal clear cell sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4880"^^xsd:string) AnnotationAssertion(rdfs:label "kidney clear cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Colorado tick fever) AnnotationAssertion(Annotation( "https://www.cdc.gov/coloradotickfever/index.html"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007213"^^xsd:string) AnnotationAssertion( "ICD10CM:A93.2"^^xsd:string) AnnotationAssertion( "MESH:D003121"^^xsd:string) AnnotationAssertion( "tick fever, American mountain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4885"^^xsd:string) AnnotationAssertion(rdfs:label "Colorado tick fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymph node tuberculosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25131362/"^^xsd:string) Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007350"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.2"^^xsd:string) AnnotationAssertion( "MESH:D014388"^^xsd:string) AnnotationAssertion( "NCI:C26896"^^xsd:string) AnnotationAssertion( "Mycobacterial Cervical Lymphadenitis"^^xsd:string) AnnotationAssertion( "Scrofula"^^xsd:string) AnnotationAssertion( "cervical tuberculous lymphadenitis"^^xsd:string) AnnotationAssertion( "lymph node tuberculoses"^^xsd:string) AnnotationAssertion( "scrofulas"^^xsd:string) AnnotationAssertion( "tuberculous adenitis"^^xsd:string) AnnotationAssertion( "tuberculous lymphadenitis"^^xsd:string) AnnotationAssertion( "tuberculous lymphadenopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4889"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile myoclonic epilepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy"^^xsd:string) Annotation( "http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic"^^xsd:string) Annotation( "http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo"^^xsd:string) "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254770"^^xsd:string) AnnotationAssertion( "GARD:6808"^^xsd:string) AnnotationAssertion( "MESH:D020190"^^xsd:string) AnnotationAssertion( "MIM:PS254770"^^xsd:string) AnnotationAssertion( "MONDO:0009696"^^xsd:string) AnnotationAssertion( "NCI:C84796"^^xsd:string) AnnotationAssertion( "ORDO:307"^^xsd:string) AnnotationAssertion( "ORDO:862"^^xsd:string) AnnotationAssertion( "Adolescent Myoclonic Epilepsies"^^xsd:string) AnnotationAssertion( "Adolescent Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "EJM"^^xsd:string) AnnotationAssertion( "Impulsive Petit Mal Epilepsy"^^xsd:string) AnnotationAssertion( "JME"^^xsd:string) AnnotationAssertion( "JME (Juvenile Myoclonic Epilepsy)"^^xsd:string) AnnotationAssertion( "Janz Impulsive Petit Mal"^^xsd:string) AnnotationAssertion( "Janz Juvenile Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Janz Syndrome"^^xsd:string) AnnotationAssertion( "Juvenile Myoclonic Epilepsies"^^xsd:string) AnnotationAssertion( "Juvenile Myoclonic Epilepsy of Janz"^^xsd:string) AnnotationAssertion( "impulsive petit mal"^^xsd:string) AnnotationAssertion( "EJM1"^^xsd:string) AnnotationAssertion( "JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "juvenile myoclonic epilepsy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4890"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile myoclonic epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A middle ear carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000230"^^xsd:string) AnnotationAssertion( "NCI:C6848"^^xsd:string) AnnotationAssertion( "RDO:9002274"^^xsd:string) AnnotationAssertion( "Endolymphatic Sac Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of middle ear"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the middle ear"^^xsd:string) AnnotationAssertion( "DOID:4892"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6089"^^xsd:string) AnnotationAssertion( "carcinoma of middle ear"^^xsd:string) AnnotationAssertion( "carcinoma of the middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4893"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rete ovarii adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21139896"^^xsd:string) "An ovary adenocarcinoma that arises from the rete ovarii. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4894"^^xsd:string) AnnotationAssertion(rdfs:label "rete ovarii adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (rete ovarii benign neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2852648"^^xsd:string) "A female reporoductive organ benign neoplasm that is located_in the rete ovarii. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40016"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4895"^^xsd:string) AnnotationAssertion(rdfs:label "rete ovarii benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (bile duct adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27813"^^xsd:string) AnnotationAssertion( "RDO:9002500"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4896"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp"^^xsd:string) "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005540"^^xsd:string) AnnotationAssertion( "MONDO:0005496"^^xsd:string) AnnotationAssertion( "NCI:C27814"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4897"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemangioma of lung) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003194"^^xsd:string) AnnotationAssertion( "lung hemangioma"^^xsd:string) AnnotationAssertion( "pulmonary hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:490"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioma of lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peritoneal serous adenocarcinoma) AnnotationAssertion( "EFO:1000494"^^xsd:string) AnnotationAssertion( "NCI:C40023"^^xsd:string) AnnotationAssertion( "primary peritoneal serous adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4901"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal serous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (appendix carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9330"^^xsd:string) AnnotationAssertion( "RDO:9002277"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:154462002"^^xsd:string) "Ca appendix"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9330"^^xsd:string) "carcinoma of appendix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4902"^^xsd:string) AnnotationAssertion(rdfs:label "appendix carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granular cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Granular_cell_tumor"^^xsd:string) "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8320/3"^^xsd:string) AnnotationAssertion( "NCI:C3681"^^xsd:string) AnnotationAssertion( "RDO:9002533"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3681"^^xsd:string) "granular cell adenocarcinoma"^^xsd:string) AnnotationAssertion( "granular cell adenocarcinomas"^^xsd:string) AnnotationAssertion( "granular cell carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4903"^^xsd:string) AnnotationAssertion(rdfs:label "granular cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/pancreatic"^^xsd:string) "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002618"^^xsd:string) AnnotationAssertion( "EFO:1000442"^^xsd:string) AnnotationAssertion( "NCI:C134944"^^xsd:string) AnnotationAssertion( "NCI:C3850"^^xsd:string) AnnotationAssertion( "carcinoma of pancreas"^^xsd:string) AnnotationAssertion( "exocrine pancreas carcinoma"^^xsd:string) AnnotationAssertion( "pancreatic acinar carcinoma"^^xsd:string) AnnotationAssertion( "CARCINOMA OF HEAD OF PANCREAS"^^xsd:string) AnnotationAssertion( "Pancreatic Large Cell Neuroendocrine Carcinoma"^^xsd:string) AnnotationAssertion( "familial pancreatic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "exocrine cancer"^^xsd:string) AnnotationAssertion( "DOID:4905"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small intestine adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A small intestine carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000532"^^xsd:string) AnnotationAssertion( "GARD:13090"^^xsd:string) AnnotationAssertion( "NCI:C7888"^^xsd:string) AnnotationAssertion( "small intestinal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of small Intestine"^^xsd:string) AnnotationAssertion( "DOID:4906"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small intestine carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Small_intestine_cancer"^^xsd:string) "A small intestine cancer that develops from epithelial cells and is located_in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005588"^^xsd:string) AnnotationAssertion( "NCI:C7724"^^xsd:string) AnnotationAssertion( "small intestinal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cancer of the small bowel"^^xsd:string) AnnotationAssertion( "small bowel cancer"^^xsd:string) AnnotationAssertion( "DOID:4907"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_cancer"^^xsd:string) "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9291"^^xsd:string) AnnotationAssertion( "Ca anus"^^xsd:string) AnnotationAssertion( "carcinoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4908"^^xsd:string) AnnotationAssertion(rdfs:label "anal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethra adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An urethra cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6167"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4910"^^xsd:string) AnnotationAssertion(rdfs:label "urethra adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An esophageal carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000478"^^xsd:string) AnnotationAssertion( "MESH:C562730"^^xsd:string) AnnotationAssertion( "NCI:C4025"^^xsd:string) AnnotationAssertion( "adenocarcinoma of esophagus"^^xsd:string) AnnotationAssertion( "esophageal adenocarcinoma"^^xsd:string) AnnotationAssertion( "oesophageal adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4914"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basophilic adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4150"^^xsd:string) AnnotationAssertion( "RDO:9002536"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27392"^^xsd:string) "basophil adenocarcinoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:47107000"^^xsd:string) "basophil carcinoma"^^xsd:string) AnnotationAssertion( "basophilic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4915"^^xsd:string) AnnotationAssertion(rdfs:label "basophilic adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pituitary carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8272/3"^^xsd:string) AnnotationAssertion( "NCI:C4536"^^xsd:string) AnnotationAssertion( "carcinoma of the pituitary gland"^^xsd:string) AnnotationAssertion( "pituitary carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4916"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (villous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15489649"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8262/3"^^xsd:string) AnnotationAssertion( "NCI:C4142"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4917"^^xsd:string) AnnotationAssertion(rdfs:label "villous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (renal pelvis adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6143"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of renal pelvis"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the kidney Pelvis"^^xsd:string) AnnotationAssertion( "DOID:4918"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal pelvis carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005582"^^xsd:string) AnnotationAssertion( "ICD10CM:C65"^^xsd:string) AnnotationAssertion( "ICD9CM:189.1"^^xsd:string) AnnotationAssertion( "NCI:C6142"^^xsd:string) AnnotationAssertion( "NCI:C7525"^^xsd:string) AnnotationAssertion( "RDO:9001914"^^xsd:string) AnnotationAssertion( "carcinoma of kidney Pelvis"^^xsd:string) AnnotationAssertion( "malignant neoplasm of renal pelvis"^^xsd:string) AnnotationAssertion( "malignant renal Pelvis neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of renal pelvis"^^xsd:string) AnnotationAssertion( "renal pelvis cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4919"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis carcinoma"^^xsd:string) SubClassOf( ) # Class: (acquired hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27018"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:492"^^xsd:string) AnnotationAssertion(rdfs:label "acquired hemangioma"^^xsd:string) SubClassOf( ) # Class: (eccrine adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8413/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4920"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eccrine sweat gland cancer) AnnotationAssertion( "EFO:0005553"^^xsd:string) AnnotationAssertion( "NCI:C5559"^^xsd:string) AnnotationAssertion( "malignant eccrine skin neoplasm"^^xsd:string) AnnotationAssertion( "malignant eccrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4921"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine sweat gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast secretory carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html"^^xsd:string) "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C537535"^^xsd:string) AnnotationAssertion( "NCI:C4189"^^xsd:string) AnnotationAssertion( "juvenile breast carcinoma"^^xsd:string) AnnotationAssertion( "juvenile carcinoma of the breast"^^xsd:string) AnnotationAssertion( "juvenile secretory carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4922"^^xsd:string) AnnotationAssertion(rdfs:label "breast secretory carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A thymic carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6459"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4923"^^xsd:string) AnnotationAssertion(rdfs:label "thymus adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bronchiolo-alveolar adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15562552"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9498957"^^xsd:string) "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000308"^^xsd:string) AnnotationAssertion( "EFO:1001941"^^xsd:string) AnnotationAssertion( "MESH:D002282"^^xsd:string) AnnotationAssertion( "NCI:C2923"^^xsd:string) AnnotationAssertion( "Alveolar Carcinoma"^^xsd:string) AnnotationAssertion( "Alveolar Carcinomas"^^xsd:string) AnnotationAssertion( "Alveolar Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Bronchiolar Carcinoma"^^xsd:string) AnnotationAssertion( "Bronchiolar Carcinomas"^^xsd:string) AnnotationAssertion( "Bronchiolo-Alveolar Adenocarcinomas"^^xsd:string) AnnotationAssertion( "Bronchiolo-Alveolar Carcinoma"^^xsd:string) AnnotationAssertion( "Bronchioloalveolar Carcinoma"^^xsd:string) AnnotationAssertion( "alveolar adenocarcinoma"^^xsd:string) AnnotationAssertion( "alveolar adenocarcinomas"^^xsd:string) AnnotationAssertion( "bronchioalveolar carcinoma"^^xsd:string) AnnotationAssertion( "bronchioalveolar lung carcinoma"^^xsd:string) AnnotationAssertion( "bronchiolo-alveolar carcinomas"^^xsd:string) AnnotationAssertion( "bronchioloalveolar carcinomas"^^xsd:string) AnnotationAssertion( "minimally invasive lung adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4926"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiolo-alveolar adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Klatskin's tumor) AnnotationAssertion(Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=D018285"^^xsd:string) "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. (DO)"^^xsd:string) AnnotationAssertion( "DOID:5246"^^xsd:string) AnnotationAssertion( "EFO:1001005"^^xsd:string) AnnotationAssertion( "EFO:1001959"^^xsd:string) AnnotationAssertion( "GARD:10175"^^xsd:string) AnnotationAssertion( "MESH:D018285"^^xsd:string) AnnotationAssertion( "NCI:C36077"^^xsd:string) AnnotationAssertion( "ORDO:99978"^^xsd:string) AnnotationAssertion( "Klatskin tumor"^^xsd:string) AnnotationAssertion( "Klatskin tumour"^^xsd:string) AnnotationAssertion( "Klatskin's tumour"^^xsd:string) AnnotationAssertion( "Klatskins tumor"^^xsd:string) AnnotationAssertion( "hilar cholangiocarcinoma"^^xsd:string) AnnotationAssertion( "hilar cholangiocarcinomas"^^xsd:string) AnnotationAssertion( "hilar cholangiocellular carcinoma"^^xsd:string) AnnotationAssertion( "perihilar cholangiocarcinoma"^^xsd:string) AnnotationAssertion( "perihilar extrahepatic bile duct carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4927"^^xsd:string) AnnotationAssertion(rdfs:label "Klatskin's tumor"^^xsd:string) SubClassOf( ) # Class: (intrahepatic cholangiocarcinoma) AnnotationAssertion(Annotation( "https://www.dana-farber.org/intrahepatic-cholangiocarcinoma/"^^xsd:string) "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001961"^^xsd:string) AnnotationAssertion( "GARD:6042"^^xsd:string) AnnotationAssertion( "MONDO:0003210"^^xsd:string) AnnotationAssertion( "NCI:C35417"^^xsd:string) AnnotationAssertion( "intrahepatic bile duct carcinoma"^^xsd:string) AnnotationAssertion( "peripheral cholangiocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4928"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic cholangiocarcinoma"^^xsd:string) SubClassOf( ) # Class: (tubular adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK553180/"^^xsd:string) "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006500"^^xsd:string) AnnotationAssertion( "ICDO:8211/3"^^xsd:string) AnnotationAssertion( "NCI:C65192"^^xsd:string) AnnotationAssertion( "tubular adenocarcinomas"^^xsd:string) AnnotationAssertion( "tubular carcinoma"^^xsd:string) AnnotationAssertion( "tubular carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4929"^^xsd:string) AnnotationAssertion(rdfs:label "tubular adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (nasal cavity adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6015"^^xsd:string) AnnotationAssertion( "adenocarcinoma of nasal cavity"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4930"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "A nasal cavity cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9336"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cancer of nasal cavity"^^xsd:string) AnnotationAssertion( "carcinoma of nasal cavity"^^xsd:string) AnnotationAssertion( "DOID:4931"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2010-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000079"^^xsd:string) AnnotationAssertion( "NCI:C3908"^^xsd:string) AnnotationAssertion( "ORDO:300557"^^xsd:string) AnnotationAssertion( "ampullary carcinoma"^^xsd:string) AnnotationAssertion( "ampulloma"^^xsd:string) AnnotationAssertion( "carcinoma of ampulla of Vater"^^xsd:string) AnnotationAssertion( "carcinoma of the ampulla of Vater"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4932"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (apocrine carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12138"^^xsd:string) AnnotationAssertion( "ICDO:8401/3"^^xsd:string) AnnotationAssertion( "NCI:C4169"^^xsd:string) AnnotationAssertion( "apocrine adenocarcinoma"^^xsd:string) AnnotationAssertion( "apocrine gland carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of the apocrine gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4933"^^xsd:string) AnnotationAssertion(rdfs:label "apocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (apocrine sweat gland cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6800"^^xsd:string) AnnotationAssertion( "malignant apocrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4934"^^xsd:string) AnnotationAssertion(rdfs:label "apocrine sweat gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An ureter carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6155"^^xsd:string) AnnotationAssertion( "adenocarcinoma of ureter"^^xsd:string) AnnotationAssertion( "ureteral adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4938"^^xsd:string) AnnotationAssertion(rdfs:label "ureter adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter carcinoma) AnnotationAssertion(Annotation( "http://www.mayoclinic.org/ureter-cancer/"^^xsd:string) "An ureter cancer that is located_in the ureter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000609"^^xsd:string) AnnotationAssertion( "NCI:C8993"^^xsd:string) AnnotationAssertion( "ureteral carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4939"^^xsd:string) AnnotationAssertion(rdfs:label "ureter carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenocarcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ"^^xsd:string) "An in situ carcinoma that derives_from epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8140/2"^^xsd:string) AnnotationAssertion( "MESH:D065311"^^xsd:string) AnnotationAssertion( "NCI:C4123"^^xsd:string) AnnotationAssertion( "Intraepithelial Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Preinvasive Adenocarcinoma"^^xsd:string) AnnotationAssertion( "intraepithelial adenocarcinomas"^^xsd:string) AnnotationAssertion( "preinvasive adenocarcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4943"^^xsd:string) AnnotationAssertion(rdfs:label "adenocarcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastroesophageal junction adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9296"^^xsd:string) AnnotationAssertion( "RDO:9002540"^^xsd:string) AnnotationAssertion( "adenocarcinoma of cardioesophageal junction"^^xsd:string) AnnotationAssertion( "adenocarcinoma of gastroesophageal junction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4944"^^xsd:string) AnnotationAssertion(rdfs:label "gastroesophageal junction adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (cholangiocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Cholangiocarcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=335064"^^xsd:string) "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005221"^^xsd:string) AnnotationAssertion( "ICD10CM:C22.1"^^xsd:string) AnnotationAssertion( "ICDO:8160/3"^^xsd:string) AnnotationAssertion( "MESH:D018281"^^xsd:string) AnnotationAssertion( "NCI:C38739"^^xsd:string) AnnotationAssertion( "NCI:C4436"^^xsd:string) AnnotationAssertion( "NCI:C60372"^^xsd:string) AnnotationAssertion( "NCI:C8265"^^xsd:string) AnnotationAssertion( "Cholangiocellular Carcinoma"^^xsd:string) AnnotationAssertion( "adult primary cholangiocarcinoma"^^xsd:string) AnnotationAssertion( "adult primary cholangiocellular carcinoma"^^xsd:string) AnnotationAssertion( "cholangiocarcinomas"^^xsd:string) AnnotationAssertion( "cholangiocellular carcinomas"^^xsd:string) AnnotationAssertion( "cholangiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4947"^^xsd:string) AnnotationAssertion(rdfs:label "cholangiocarcinoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder carcinoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370"^^xsd:string) "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001956"^^xsd:string) AnnotationAssertion( "NCI:C3844"^^xsd:string) AnnotationAssertion( "cancer of the gallbladder"^^xsd:string) AnnotationAssertion( "carcinoma of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4948"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sclerosing hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "sclerosing haemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:495"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing hemangioma"^^xsd:string) SubClassOf( ) # Class: (postpoliomyelitis syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Postpolio_syndrome"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms"^^xsd:string) "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007454"^^xsd:string) AnnotationAssertion( "GARD:4454"^^xsd:string) AnnotationAssertion( "ICD10CM:G14"^^xsd:string) AnnotationAssertion( "MESH:D016262"^^xsd:string) AnnotationAssertion( "Postpoliomyelitis Muscular Atrophy"^^xsd:string) AnnotationAssertion( "post poliomyelitis muscular atrophy"^^xsd:string) AnnotationAssertion( "post poliomyelitis syndrome"^^xsd:string) AnnotationAssertion( "post-polio syndrome"^^xsd:string) AnnotationAssertion( "post-polio syndromes"^^xsd:string) AnnotationAssertion( "post-poliomyelitis muscular atrophies"^^xsd:string) AnnotationAssertion( "postpolio syndrome"^^xsd:string) AnnotationAssertion( "postpoliomyelitis muscular atrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4952"^^xsd:string) AnnotationAssertion(rdfs:label "postpoliomyelitis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (poliomyelitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string) Annotation( "http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms"^^xsd:string) "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007450"^^xsd:string) AnnotationAssertion( "GARD:7413"^^xsd:string) AnnotationAssertion( "ICD10CM:A80"^^xsd:string) AnnotationAssertion( "ICD9CM:045"^^xsd:string) AnnotationAssertion( "MESH:D011051"^^xsd:string) AnnotationAssertion( "NCI:C35550"^^xsd:string) AnnotationAssertion( "Nonpoliovirus Poliomyelitis"^^xsd:string) AnnotationAssertion( "acute poliomyelitis"^^xsd:string) AnnotationAssertion( "epidemic acute poliomyelitis"^^xsd:string) AnnotationAssertion( "infantile paralysis"^^xsd:string) AnnotationAssertion( "polio"^^xsd:string) AnnotationAssertion( "polio encephalitis"^^xsd:string) AnnotationAssertion( "polios"^^xsd:string) AnnotationAssertion( "preparalytic poliomyelitides"^^xsd:string) AnnotationAssertion( "preparalytic poliomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4953"^^xsd:string) AnnotationAssertion(rdfs:label "poliomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central nervous system melanocytic neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10403296"^^xsd:string) "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4661"^^xsd:string) AnnotationAssertion( "NCI:C5504"^^xsd:string) AnnotationAssertion( "central nervous system primary melanocytic lesion"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5504"^^xsd:string) "melanocytic tumor of the CNS"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4661"^^xsd:string) "primary melanocytic Lesions of the CNS"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:277523004"^^xsd:string) "primary melanocytic lesion of meninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4955"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system melanocytic neoplasm"^^xsd:string) SubClassOf( ) # Class: (meninges hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4660"^^xsd:string) AnnotationAssertion( "hemangiopericytoma of meninges"^^xsd:string) AnnotationAssertion( "meningeal hemangiopericytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4957"^^xsd:string) AnnotationAssertion(rdfs:label "meninges hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epidermolysis bullosa dystrophica) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes"^^xsd:string) "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:226600"^^xsd:string) AnnotationAssertion( "OMIA:000341"^^xsd:string) AnnotationAssertion( "EFO:1000692"^^xsd:string) AnnotationAssertion( "GARD:2150"^^xsd:string) AnnotationAssertion( "MESH:D016108"^^xsd:string) AnnotationAssertion( "NCI:C84691"^^xsd:string) AnnotationAssertion( "ORDO:303"^^xsd:string) AnnotationAssertion( "Dystrophic Epidermolysis Bullosa"^^xsd:string) AnnotationAssertion( "EBR1"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Dystrophica, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa dystrophica, AR"^^xsd:string) AnnotationAssertion( "Hallopeau Siemens disease"^^xsd:string) AnnotationAssertion( "RDEB"^^xsd:string) AnnotationAssertion( "dystrophic epidermolysis bullosa, autosomal recessive"^^xsd:string) AnnotationAssertion( "dystrophic epidermolysis bullosas"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, recessive"^^xsd:string) AnnotationAssertion( "EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4959"^^xsd:string) AnnotationAssertion(rdfs:label "epidermolysis bullosa dystrophica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4754"^^xsd:string) AnnotationAssertion( "SCH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:496"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell hemangioma"^^xsd:string) SubClassOf( ) # Class: (bone marrow cancer) AnnotationAssertion(Annotation( "http://nci.nih.gov/dictionary/?CdrID=430857"^^xsd:string) "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.1"^^xsd:string) AnnotationAssertion( "RDO:9004799"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35501"^^xsd:string) "malignant bone Marrow tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of bone marrow"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4960"^^xsd:string) AnnotationAssertion(rdfs:label "bone marrow cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone marrow disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/bonemarrowdiseases.html"^^xsd:string) "A hematopoietic system disease that is located_in the bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D001855"^^xsd:string) AnnotationAssertion( "NCI:C34433"^^xsd:string) AnnotationAssertion( "bone marrow diseases"^^xsd:string) AnnotationAssertion( "bone marrow disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "bone marrow hypocellularity"^^xsd:string) AnnotationAssertion( "DOID:4961"^^xsd:string) AnnotationAssertion(rdfs:label "bone marrow disease"^^xsd:string) SubClassOf( ) # Class: (pericardial tuberculosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23843490/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26699941/"^^xsd:string) Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007426"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.84"^^xsd:string) AnnotationAssertion( "MESH:D010495"^^xsd:string) AnnotationAssertion( "tuberculous pericarditides"^^xsd:string) AnnotationAssertion( "tuberculous pericarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4962"^^xsd:string) AnnotationAssertion(rdfs:label "pericardial tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurotic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neurosis"^^xsd:string) "An anxiety disorder that involves discress but neither delusions nor hallucinations. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004257"^^xsd:string) AnnotationAssertion( "ICD10CM:F34.1"^^xsd:string) AnnotationAssertion( "ICD10CM:F48.9"^^xsd:string) AnnotationAssertion( "MESH:D009497"^^xsd:string) AnnotationAssertion( "NCI:C34533"^^xsd:string) AnnotationAssertion( "NCI:C34848"^^xsd:string) AnnotationAssertion( "NCI:C35369"^^xsd:string) AnnotationAssertion( "neuroses"^^xsd:string) AnnotationAssertion( "neurosis"^^xsd:string) AnnotationAssertion( "neurotic depression"^^xsd:string) AnnotationAssertion( "neurotic depression reactive type"^^xsd:string) AnnotationAssertion( "neurotic depressions"^^xsd:string) AnnotationAssertion( "neurotic depressive state"^^xsd:string) AnnotationAssertion( "neurotic disorders"^^xsd:string) AnnotationAssertion( "psychoneuroses"^^xsd:string) AnnotationAssertion( "psychoneurosis"^^xsd:string) AnnotationAssertion( "reactive depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4964"^^xsd:string) AnnotationAssertion(rdfs:label "neurotic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nelson syndrome) AnnotationAssertion(Annotation( "MESH:D009347"^^xsd:string) "A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY."^^xsd:string) AnnotationAssertion( "GARD:7170"^^xsd:string) AnnotationAssertion( "ICD10CM:E24.1"^^xsd:string) AnnotationAssertion( "MESH:D009347"^^xsd:string) AnnotationAssertion( "NCI:C84917"^^xsd:string) AnnotationAssertion( "Nelson's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4968"^^xsd:string) AnnotationAssertion(rdfs:label "Nelson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gerstmann syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gerstmann_syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm"^^xsd:string) "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007285"^^xsd:string) AnnotationAssertion( "GARD:8660"^^xsd:string) AnnotationAssertion( "MESH:D005862"^^xsd:string) AnnotationAssertion( "ORDO:221117"^^xsd:string) AnnotationAssertion( "Acquired Gerstmann Syndrome"^^xsd:string) AnnotationAssertion( "Acquired Gerstmann's Syndrome"^^xsd:string) AnnotationAssertion( "Developmental Gerstmann Syndrome"^^xsd:string) AnnotationAssertion( "Developmental Gerstmann's Syndrome"^^xsd:string) AnnotationAssertion( "Developmental Gerstmanns Syndrome"^^xsd:string) AnnotationAssertion( "Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia"^^xsd:string) AnnotationAssertion( "Gerstmann Badal Syndrome"^^xsd:string) AnnotationAssertion( "Gerstmann Syndrome 2"^^xsd:string) AnnotationAssertion( "Gerstmann's Syndrome"^^xsd:string) AnnotationAssertion( "aphasia-angular gyrus syndrome"^^xsd:string) AnnotationAssertion( "finger-agnosia-left-right-confusion-acalculia-agraphias"^^xsd:string) AnnotationAssertion( "syndrome de Gerstmann"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4969"^^xsd:string) AnnotationAssertion(rdfs:label "Gerstmann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prosopagnosia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Agnosia"^^xsd:string) "An agnosia that results in the loss of the ability to consciously recognize familiar faces. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R48.3"^^xsd:string) AnnotationAssertion( "MESH:D020238"^^xsd:string) AnnotationAssertion( "NCI:C85031"^^xsd:string) AnnotationAssertion( "Acquired Prosopagnosia"^^xsd:string) AnnotationAssertion( "Agnosia for Face"^^xsd:string) AnnotationAssertion( "Agnosia for Faces"^^xsd:string) AnnotationAssertion( "Developmental Prosopagnosia"^^xsd:string) AnnotationAssertion( "Developmental Prosopagnosias"^^xsd:string) AnnotationAssertion( "acquired prosopagnosias"^^xsd:string) AnnotationAssertion( "facial recognition agnosia"^^xsd:string) AnnotationAssertion( "facial recognition agnosias"^^xsd:string) AnnotationAssertion( "prosopagnosias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4970"^^xsd:string) AnnotationAssertion(rdfs:label "prosopagnosia"^^xsd:string) SubClassOf( ) # Class: (myelofibrosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myelofibrosis"^^xsd:string) "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254450"^^xsd:string) AnnotationAssertion( "EFO:0002430"^^xsd:string) AnnotationAssertion( "GARD:8618"^^xsd:string) AnnotationAssertion( "ICD10CM:D47.4"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.81"^^xsd:string) AnnotationAssertion( "ICD9CM:238.76"^^xsd:string) AnnotationAssertion( "ICD9CM:289.83"^^xsd:string) AnnotationAssertion( "MESH:D055728"^^xsd:string) AnnotationAssertion( "NCI:C2862"^^xsd:string) AnnotationAssertion( "NCI:C3248"^^xsd:string) AnnotationAssertion( "ORDO:824"^^xsd:string) AnnotationAssertion( "Agnogenic Myeloid Metaplasia"^^xsd:string) AnnotationAssertion( "Bone Marrow Fibrosis"^^xsd:string) AnnotationAssertion( "CIMF"^^xsd:string) AnnotationAssertion( "Chronic Idiopathic Myelofibrosis"^^xsd:string) AnnotationAssertion( "Idiopathic Myelofibrosis"^^xsd:string) AnnotationAssertion( "MYELOFIBROSIS, SOMATIC"^^xsd:string) AnnotationAssertion( "Myelofibroses"^^xsd:string) AnnotationAssertion( "Myeloid Metaplasia"^^xsd:string) AnnotationAssertion( "Myeloid Metaplasias"^^xsd:string) AnnotationAssertion( "Myeloscleroses"^^xsd:string) AnnotationAssertion( "Myelosclerosis"^^xsd:string) AnnotationAssertion( "Nonleukemic Myeloses"^^xsd:string) AnnotationAssertion( "agnogenic myeloid metaplasias"^^xsd:string) AnnotationAssertion( "aleukemic myelosis"^^xsd:string) AnnotationAssertion( "bone marrow fibroses"^^xsd:string) AnnotationAssertion( "megakaryocytic myelosclerosis"^^xsd:string) AnnotationAssertion( "nonleukemic myelosis"^^xsd:string) AnnotationAssertion( "primary myelofibroses"^^xsd:string) AnnotationAssertion( "primary myelofibrosis"^^xsd:string) AnnotationAssertion( "MMM"^^xsd:string) AnnotationAssertion( "MYELOFIBROSIS WITH MYELOID METAPLASIA"^^xsd:string) AnnotationAssertion( "prefibrotic primary myelofibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4971"^^xsd:string) AnnotationAssertion(rdfs:label "myelofibrosis"^^xsd:string) SubClassOf( ) # Class: (myelodysplastic/myeloproliferative neoplasm) AnnotationAssertion(Annotation( "http://www.bloodjournal.org/content/114/5/937.long"^^xsd:string) Annotation( "http://www.bloodjournal.org/content/127/20/2391"^^xsd:string) Annotation( "http://www.bloodjournal.org/content/128/3/462"^^xsd:string) Annotation( "https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq"^^xsd:string) "A myeloid neoplasm that results_in the overproduction of white blood cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000388"^^xsd:string) AnnotationAssertion( "MESH:D054437"^^xsd:string) AnnotationAssertion( "NCI:C27262"^^xsd:string) AnnotationAssertion( "MDS/MPN"^^xsd:string) AnnotationAssertion( "Myelodysplastic-Myeloproliferative Disease"^^xsd:string) AnnotationAssertion( "Myelodysplastic-Myeloproliferative Diseases"^^xsd:string) AnnotationAssertion( "Myeloproliferative Myelodisplastic Diseases"^^xsd:string) AnnotationAssertion( "Myeloproliferative-Myelodisplastic Disease"^^xsd:string) AnnotationAssertion( "myelodysplastic myeloproliferative cancer"^^xsd:string) AnnotationAssertion( "myelodysplastic syndrome/myeloproliferative neoplasm"^^xsd:string) AnnotationAssertion( "myeloproliferative/myelodysplastic syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4972"^^xsd:string) AnnotationAssertion(rdfs:label "myelodysplastic/myeloproliferative neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (actinobacillosis) AnnotationAssertion(Annotation( "http://www.sciencedirect.com/science/article/pii/073646799500066J"^^xsd:string) Annotation( "https://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis"^^xsd:string) "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007127"^^xsd:string) AnnotationAssertion( "MESH:D000187"^^xsd:string) AnnotationAssertion( "Actinobacilloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4974"^^xsd:string) AnnotationAssertion(rdfs:label "actinobacillosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (elephantiasis) AnnotationAssertion(Annotation( "MESH:D004604"^^xsd:string) "Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."^^xsd:string) AnnotationAssertion( "EFO:0004711"^^xsd:string) AnnotationAssertion( "MESH:D004604"^^xsd:string) AnnotationAssertion( "NCI:C34569"^^xsd:string) AnnotationAssertion( "Bigfoot Disease"^^xsd:string) AnnotationAssertion( "Elephantiasis Nostras Verrucosa"^^xsd:string) AnnotationAssertion( "Endemic Elephantiasis"^^xsd:string) AnnotationAssertion( "Endemic Non Filarial Elephantiasis"^^xsd:string) AnnotationAssertion( "Endemic Non-Filarial Elephantiases"^^xsd:string) AnnotationAssertion( "Lymphostatic Verrucoses"^^xsd:string) AnnotationAssertion( "bigfoot diseases"^^xsd:string) AnnotationAssertion( "elephantiases"^^xsd:string) AnnotationAssertion( "endemic elephantiases"^^xsd:string) AnnotationAssertion( "lymphostatic verrucosis"^^xsd:string) AnnotationAssertion( "microcrystal disease"^^xsd:string) AnnotationAssertion( "microcrystal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4976"^^xsd:string) AnnotationAssertion(rdfs:label "elephantiasis"^^xsd:string) SubClassOf( ) # Class: (lymphedema) AnnotationAssertion(Annotation( "MESH:D008209"^^xsd:string) "Edema due to obstruction of lymph vessels or disorders of the lymph nodes."^^xsd:string) AnnotationAssertion( "MESH:D008209"^^xsd:string) AnnotationAssertion( "NCI:C3207"^^xsd:string) AnnotationAssertion( "Early Onset Lymphedema"^^xsd:string) AnnotationAssertion( "Lymphedemas"^^xsd:string) AnnotationAssertion( "Nonne Milroy Disease"^^xsd:string) AnnotationAssertion( "Nonne Milroy Meige disease"^^xsd:string) AnnotationAssertion( "Nonne Milroy lymphedema"^^xsd:string) AnnotationAssertion( "early onset lymphedemas"^^xsd:string) AnnotationAssertion( "lymphatic edema"^^xsd:string) AnnotationAssertion( "lymphoedema"^^xsd:string) AnnotationAssertion( "primary lymphedema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4977"^^xsd:string) AnnotationAssertion(rdfs:label "lymphedema"^^xsd:string) SubClassOf( ) # Class: (extraosseous Ewings sarcoma-primitive neuroepithelial tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000250"^^xsd:string) AnnotationAssertion( "NCI:C7135"^^xsd:string) AnnotationAssertion( "extraosseous Ewing's tumor"^^xsd:string) AnnotationAssertion( "extraosseous Ewing's tumour"^^xsd:string) AnnotationAssertion( "extraosseous Ewings sarcoma-primitive neuroepithelial tumour"^^xsd:string) AnnotationAssertion( "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4985"^^xsd:string) AnnotationAssertion(rdfs:label "extraosseous Ewings sarcoma-primitive neuroepithelial tumor"^^xsd:string) SubClassOf( ) # Class: (nonparalytic poliomyelitis) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512"^^xsd:string) "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A80.4"^^xsd:string) AnnotationAssertion( "ICD9CM:045.2"^^xsd:string) AnnotationAssertion( "RDO:9003483"^^xsd:string) AnnotationAssertion( "acute nonparalytic poliomyelitis"^^xsd:string) AnnotationAssertion( "non-paralytic aseptic meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4986"^^xsd:string) AnnotationAssertion(rdfs:label "nonparalytic poliomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alcoholic pancreatitis) AnnotationAssertion(Annotation( "MESH:D019512"^^xsd:string) "Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics."^^xsd:string) AnnotationAssertion( "EFO:1002013"^^xsd:string) AnnotationAssertion( "MESH:D019512"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4988"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatitis) AnnotationAssertion(Annotation( "https://medlineplus.gov/pancreatitis.html"^^xsd:string) "A pancreas disease that is characterized by inflammation of the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000278"^^xsd:string) AnnotationAssertion( "EFO:0002498"^^xsd:string) AnnotationAssertion( "EFO:0002502"^^xsd:string) AnnotationAssertion( "EFO:0006315"^^xsd:string) AnnotationAssertion( "EFO:0021524"^^xsd:string) AnnotationAssertion( "ICD10CM:K85.9"^^xsd:string) AnnotationAssertion( "MESH:D010195"^^xsd:string) AnnotationAssertion( "NCI:C3306"^^xsd:string) AnnotationAssertion( "pancreatitides"^^xsd:string) AnnotationAssertion( "RECURRENT PANCREATITIS"^^xsd:string) AnnotationAssertion( "aggressive insulitis"^^xsd:string) AnnotationAssertion( "benign insulitis"^^xsd:string) AnnotationAssertion( "non-alcoholic pancreatitis"^^xsd:string) AnnotationAssertion( "thiopurine immunosuppressant-induced pancreatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4989"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (essential tremor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Essential_tremor"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/essential-tremor"^^xsd:string) "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003108"^^xsd:string) AnnotationAssertion( "GARD:5910"^^xsd:string) AnnotationAssertion( "ICD10CM:G25.0"^^xsd:string) AnnotationAssertion( "MESH:D020329"^^xsd:string) AnnotationAssertion( "MIM:PS190300"^^xsd:string) AnnotationAssertion( "NCI:C182453"^^xsd:string) AnnotationAssertion( "benign essential tremor"^^xsd:string) AnnotationAssertion( "benign essential tremors"^^xsd:string) AnnotationAssertion( "essential tremors"^^xsd:string) AnnotationAssertion( "familial tremor"^^xsd:string) AnnotationAssertion( "familial tremors"^^xsd:string) AnnotationAssertion( "hereditary essential tremor"^^xsd:string) AnnotationAssertion( "shaky hand syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ESSENTIAL TREMOR, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:4990"^^xsd:string) AnnotationAssertion(rdfs:label "essential tremor"^^xsd:string) SubClassOf( ) # Class: (optic nerve astrocytoma) AnnotationAssertion( "NCI:C6769"^^xsd:string) AnnotationAssertion( "NCI:C7533"^^xsd:string) AnnotationAssertion( "astrocytic tumor of optic nerve"^^xsd:string) AnnotationAssertion( "optic tract astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4991"^^xsd:string) AnnotationAssertion(rdfs:label "optic nerve astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic nerve glioma) AnnotationAssertion(Annotation( "MESH:D020339"^^xsd:string) "Glial cell derived tumors arising from the optic nerve, usually presenting in childhood."^^xsd:string) AnnotationAssertion( "EFO:0009254"^^xsd:string) AnnotationAssertion( "GARD:4107"^^xsd:string) AnnotationAssertion( "MESH:D020339"^^xsd:string) AnnotationAssertion( "NCI:C4537"^^xsd:string) AnnotationAssertion( "Optic Glioma"^^xsd:string) AnnotationAssertion( "glioma of the optic nerve"^^xsd:string) AnnotationAssertion( "optic gliomas"^^xsd:string) AnnotationAssertion( "optic nerve gliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4992"^^xsd:string) AnnotationAssertion(rdfs:label "optic nerve glioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (atypical polypoid adenomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusapa.html"^^xsd:string) "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6895"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4993"^^xsd:string) AnnotationAssertion(rdfs:label "atypical polypoid adenomyoma"^^xsd:string) SubClassOf( ) # Class: (adenomyoma of uterine corpus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16990713"^^xsd:string) "A uterine benign neoplasm that has_material_basis_in gland and muscle components. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003237"^^xsd:string) AnnotationAssertion( "NCI:C6338"^^xsd:string) AnnotationAssertion( "adenomyoma of corpus uteri"^^xsd:string) AnnotationAssertion( "uterine corpus adenomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4994"^^xsd:string) AnnotationAssertion(rdfs:label "adenomyoma of uterine corpus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical adenomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24582628"^^xsd:string) "A cervical benign neoplasm that has_material_basis_in gland and muscle components. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40231"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4995"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Camurati-Engelmann disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Camurati-Engelmann_disease"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK1156/"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328"^^xsd:string) Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease"^^xsd:string) "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (DO)"^^xsd:string) AnnotationAssertion( "MIM:131300"^^xsd:string) AnnotationAssertion( "GARD:1072"^^xsd:string) AnnotationAssertion( "ICD10CM:Q78.3"^^xsd:string) AnnotationAssertion( "MESH:D003966"^^xsd:string) AnnotationAssertion( "NCI:C84610"^^xsd:string) AnnotationAssertion( "CAEND"^^xsd:string) AnnotationAssertion( "CED"^^xsd:string) AnnotationAssertion( "Camurati-Engelmann syndrome"^^xsd:string) AnnotationAssertion( "Engelman's disease"^^xsd:string) AnnotationAssertion( "Engelmann disease"^^xsd:string) AnnotationAssertion( "Engelmann's disease"^^xsd:string) AnnotationAssertion( "PDD"^^xsd:string) AnnotationAssertion( "diaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "diaphyseal hyperostosis"^^xsd:string) AnnotationAssertion( "progressive diaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "progressive diaphyseal dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4997"^^xsd:string) AnnotationAssertion(rdfs:label "Camurati-Engelmann disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trichorhinophalangeal syndrome type II) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Langer-Giedion_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome"^^xsd:string) Annotation( "http://www.healthline.com/galecontent/langer-giedion-syndrome"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502"^^xsd:string) Annotation( "http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract"^^xsd:string) "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (DO)"^^xsd:string) AnnotationAssertion( "MIM:150230"^^xsd:string) AnnotationAssertion( "GARD:7801"^^xsd:string) AnnotationAssertion( "MESH:D015826"^^xsd:string) AnnotationAssertion( "NCI:C75118"^^xsd:string) AnnotationAssertion( "ORDO:502"^^xsd:string) AnnotationAssertion( "LGS"^^xsd:string) AnnotationAssertion( "Langer-Giedion syndrome"^^xsd:string) AnnotationAssertion( "TRPS2"^^xsd:string) AnnotationAssertion( "TRPSII"^^xsd:string) AnnotationAssertion( "acrodysplasia V"^^xsd:string) AnnotationAssertion( "chromosome 8q24.1 deletion syndrome"^^xsd:string) AnnotationAssertion( "tricho rhino phalangeal syndrome type II"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal dysplasia type II"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal syndrome type 2"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal syndrome with exostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:4998"^^xsd:string) AnnotationAssertion(rdfs:label "trichorhinophalangeal syndrome type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (thyroid gland disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Thyroid"^^xsd:string) "An endocrine system disease that is located_in the thyroid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000627"^^xsd:string) AnnotationAssertion( "ICD10CM:E07.9"^^xsd:string) AnnotationAssertion( "ICD9CM:246.9"^^xsd:string) AnnotationAssertion( "MESH:D013959"^^xsd:string) AnnotationAssertion( "MIM:PS609698"^^xsd:string) AnnotationAssertion( "MP:0005468"^^xsd:string) AnnotationAssertion( "NCI:C26893"^^xsd:string) AnnotationAssertion( "Thyroid Disease"^^xsd:string) AnnotationAssertion( "Thyroid Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ABNORMAL CIRCULATING THYROID HORMONE CONCENTRATION"^^xsd:string) AnnotationAssertion( "ABNORMAL THYROID HORMONE LEVEL"^^xsd:string) AnnotationAssertion( "DOID:50"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid gland disease"^^xsd:string) SubClassOf( ) # Class: (eunuchism) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058"^^xsd:string) "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007266"^^xsd:string) AnnotationAssertion( "MESH:D005058"^^xsd:string) AnnotationAssertion( "eunuchoidism"^^xsd:string) AnnotationAssertion( "male hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5003"^^xsd:string) AnnotationAssertion(rdfs:label "eunuchism"^^xsd:string) SubClassOf( ) # Class: (central nervous system hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7004"^^xsd:string) AnnotationAssertion( "hemangioma of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:501"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibrolamellar carcinoma) AnnotationAssertion(Annotation( "http://www.nejm.org/doi/full/10.1056/NEJMra1001683"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma"^^xsd:string) "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000256"^^xsd:string) AnnotationAssertion( "MESH:C537258"^^xsd:string) AnnotationAssertion( "NCI:C4131"^^xsd:string) AnnotationAssertion( "ORDO:401920"^^xsd:string) AnnotationAssertion( "Fibrolamellar Hepatocellular Carcinoma"^^xsd:string) AnnotationAssertion( "fibrolamellar variant of hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "hepatocellular carcinoma (fibrolamellar variant)"^^xsd:string) AnnotationAssertion( "oncocytic hepatocellular tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5015"^^xsd:string) AnnotationAssertion(rdfs:label "fibrolamellar carcinoma"^^xsd:string) SubClassOf( ) # Class: (hepatocellular clear cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8174/3"^^xsd:string) AnnotationAssertion( "NCI:C5754"^^xsd:string) AnnotationAssertion( "clear cell carcinoma of the liver cells"^^xsd:string) AnnotationAssertion( "hepatocellular carcinoma, clear cell type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5016"^^xsd:string) AnnotationAssertion(rdfs:label "hepatocellular clear cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (central nervous system mesenchymal non-meningothelial tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1669699"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/B978032344941000014X"^^xsd:string) "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "central nervous system mesenchymal non-meningothelial tumour"^^xsd:string) AnnotationAssertion( "non-meningothelial mesenchymal tumor"^^xsd:string) AnnotationAssertion( "non-meningothelial mesenchymal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:502"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system mesenchymal non-meningothelial tumor"^^xsd:string) SubClassOf( ) # Class: (aflatoxins-related hepatocellular carcinoma) AnnotationAssertion(Annotation( "NCI:C27922"^^xsd:string) "A hepatocellular carcinoma that develops following exposure to aflatoxin."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27922"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5022"^^xsd:string) AnnotationAssertion(rdfs:label "aflatoxins-related hepatocellular carcinoma"^^xsd:string) SubClassOf( ) # Class: (sclerosing hepatic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27388"^^xsd:string) AnnotationAssertion( "sclerosing hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5026"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing hepatic carcinoma"^^xsd:string) SubClassOf( ) # Class: (pineal parenchymal tumor of intermediate differentiation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000474"^^xsd:string) AnnotationAssertion( "ICDO:9362/3"^^xsd:string) AnnotationAssertion( "NCI:C6967"^^xsd:string) AnnotationAssertion( "pineal parenchymal tumour of intermediate differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5030"^^xsd:string) AnnotationAssertion(rdfs:label "pineal parenchymal tumor of intermediate differentiation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult pineal parenchymal tumor) AnnotationAssertion( "NCI:C8273"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8273"^^xsd:string) "adult Pineal Parenchymal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5031"^^xsd:string) AnnotationAssertion(rdfs:label "adult pineal parenchymal tumor"^^xsd:string) SubClassOf( ) # Class: (pineal gland cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pineal_gland"^^xsd:string) "An endocrine gland located_in the pineal gland located in the brain. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C75.3"^^xsd:string) AnnotationAssertion( "ICD9CM:194.4"^^xsd:string) AnnotationAssertion( "NCI:C3328"^^xsd:string) AnnotationAssertion( "NCI:C3573"^^xsd:string) AnnotationAssertion( "NCI:C6965"^^xsd:string) AnnotationAssertion( "malignant pineal region tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of pineal gland"^^xsd:string) AnnotationAssertion( "neoplasm of pineal gland"^^xsd:string) AnnotationAssertion( "neoplasm of the pineal region"^^xsd:string) AnnotationAssertion( "pineal body neoplasm"^^xsd:string) AnnotationAssertion( "pineocytic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5032"^^xsd:string) AnnotationAssertion(rdfs:label "pineal gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3252"^^xsd:string) AnnotationAssertion( "benign granular cell tumor"^^xsd:string) AnnotationAssertion( "myoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5039"^^xsd:string) AnnotationAssertion(rdfs:label "myoblastoma"^^xsd:string) SubClassOf( ) # Class: (malignant granular cell esophageal tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5700"^^xsd:string) AnnotationAssertion( "RDO:9002313"^^xsd:string) AnnotationAssertion( "granular cell tumor of esophagus"^^xsd:string) AnnotationAssertion( "granular cell tumour of oesophagus"^^xsd:string) AnnotationAssertion( "malignant granular cell esophageal tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5040"^^xsd:string) AnnotationAssertion(rdfs:label "malignant granular cell esophageal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophageal cancer) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Esophagus"^^xsd:string) "A gastrointestinal system cancer that is located_in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6383"^^xsd:string) AnnotationAssertion( "ICD10CM:C15.3"^^xsd:string) AnnotationAssertion( "ICD10CM:C15.4"^^xsd:string) AnnotationAssertion( "ICD10CM:C15.5"^^xsd:string) AnnotationAssertion( "ICD9CM:150.2"^^xsd:string) AnnotationAssertion( "ICD9CM:150.3"^^xsd:string) AnnotationAssertion( "ICD9CM:150.4"^^xsd:string) AnnotationAssertion( "ICD9CM:150.5"^^xsd:string) AnnotationAssertion( "ICD9CM:150.8"^^xsd:string) AnnotationAssertion( "NCI:C3028"^^xsd:string) AnnotationAssertion( "NCI:C3533"^^xsd:string) AnnotationAssertion( "NCI:C3534"^^xsd:string) AnnotationAssertion( "NCI:C3535"^^xsd:string) AnnotationAssertion( "NCI:C4764"^^xsd:string) AnnotationAssertion( "esophagus cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of distal third of esophagus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower third of oesophagus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of middle third of oesophagus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of proximal third of esophagus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of upper third esophagus"^^xsd:string) AnnotationAssertion( "malignant tumor of abdominal esophagus"^^xsd:string) AnnotationAssertion( "malignant tumor of distal third of esophagus"^^xsd:string) AnnotationAssertion( "malignant tumor of proximal third of esophagus"^^xsd:string) AnnotationAssertion( "malignant tumor of the middle third of the esophagus"^^xsd:string) AnnotationAssertion( "Ca lower third oesophagus"^^xsd:string) AnnotationAssertion( "Ca middle third oesophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:5041"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant granular cell myoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4336"^^xsd:string) AnnotationAssertion( "RDO:9003033"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4336"^^xsd:string) "malignant granular cell neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5042"^^xsd:string) AnnotationAssertion(rdfs:label "malignant granular cell myoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar granular cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Granular_cell_tumor"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24303488"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27510686"^^xsd:string) "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40328"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5043"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar granular cell tumor"^^xsd:string) SubClassOf( ) # Class: (cardiac granular cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5360"^^xsd:string) AnnotationAssertion( "RDO:9002670"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5360"^^xsd:string) "granular cell tumor of Heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5044"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac granular cell neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mediastinal granular cell myoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6601"^^xsd:string) AnnotationAssertion( "granular cell tumor of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5046"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal granular cell myoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (granular cell tumor of the sellar region) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32926559/"^^xsd:string) "A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000285"^^xsd:string) AnnotationAssertion( "NCI:C7017"^^xsd:string) AnnotationAssertion( "neurohypophysis granular cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5047"^^xsd:string) AnnotationAssertion(rdfs:label "granular cell tumor of the sellar region"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (posterior pituitary gland neoplasm) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33709954/"^^xsd:string) "A pituitary gland benign neoplasm that arises from the neurohypophysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7157"^^xsd:string) AnnotationAssertion( "posterior pituitary tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5048"^^xsd:string) AnnotationAssertion(rdfs:label "posterior pituitary gland neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hobnail hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:505"^^xsd:string) AnnotationAssertion(rdfs:label "hobnail hemangioma"^^xsd:string) SubClassOf( ) # Class: (Ehrlich tumor carcinoma) AnnotationAssertion(Annotation( "MESH:D002286"^^xsd:string) "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms."^^xsd:string) AnnotationAssertion( "EFO:1000913"^^xsd:string) AnnotationAssertion( "MESH:D002286"^^xsd:string) AnnotationAssertion( "Ehrlich Ascites Tumor"^^xsd:string) AnnotationAssertion( "Ehrlich tumour carcinoma"^^xsd:string) AnnotationAssertion( "Ehrlich's tumor"^^xsd:string) AnnotationAssertion( "Ehrlich's tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5050"^^xsd:string) AnnotationAssertion(rdfs:label "Ehrlich tumor carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (melioidosis) AnnotationAssertion(Annotation( "http://www.cdc.gov/melioidosis/symptoms/index.html"^^xsd:string) "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615557"^^xsd:string) AnnotationAssertion( "GARD:9546"^^xsd:string) AnnotationAssertion( "ICD10CM:A24.9"^^xsd:string) AnnotationAssertion( "ICD9CM:025"^^xsd:string) AnnotationAssertion( "MESH:D008554"^^xsd:string) AnnotationAssertion( "NCI:C128336"^^xsd:string) AnnotationAssertion( "Nightcliff gardener's disease"^^xsd:string) AnnotationAssertion( "Whitmore's disease"^^xsd:string) AnnotationAssertion( "acute and fulminating melioidosis"^^xsd:string) AnnotationAssertion( "melioidoses"^^xsd:string) AnnotationAssertion( "pseudoglanders"^^xsd:string) AnnotationAssertion( "subacute and chronic melioidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "melioidosis, resistance to"^^xsd:string) AnnotationAssertion( "melioidosis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:5052"^^xsd:string) AnnotationAssertion(rdfs:label "melioidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult cerebellar neoplasm) AnnotationAssertion( "NCI:C5968"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5968"^^xsd:string) "tumor of adult Cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5056"^^xsd:string) AnnotationAssertion(rdfs:label "adult cerebellar neoplasm"^^xsd:string) SubClassOf( ) # Class: (papillary meningioma of the cerebellum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5270"^^xsd:string) AnnotationAssertion( "papillary meningioma of cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5057"^^xsd:string) AnnotationAssertion(rdfs:label "papillary meningioma of the cerebellum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rhabdoid meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000449"^^xsd:string) AnnotationAssertion( "EFO:1000511"^^xsd:string) AnnotationAssertion( "NCI:C6909"^^xsd:string) AnnotationAssertion( "papillary meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5058"^^xsd:string) AnnotationAssertion(rdfs:label "rhabdoid meningioma"^^xsd:string) SubClassOf( ) # Class: (childhood cerebellar neoplasm) AnnotationAssertion( "NCI:C5970"^^xsd:string) AnnotationAssertion( "pediatric tumor of cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5059"^^xsd:string) AnnotationAssertion(rdfs:label "childhood cerebellar neoplasm"^^xsd:string) SubClassOf( ) # Class: (phencyclidine abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phencyclidine"^^xsd:string) "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007436"^^xsd:string) AnnotationAssertion( "MESH:D010623"^^xsd:string) AnnotationAssertion( "Angel Dust Abuse"^^xsd:string) AnnotationAssertion( "PCP abuse"^^xsd:string) AnnotationAssertion( "phencyclidine abuses"^^xsd:string) AnnotationAssertion( "phencyclidine use disorder"^^xsd:string) AnnotationAssertion( "phencyclidine-related disorder"^^xsd:string) AnnotationAssertion( "phencyclidine-related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5062"^^xsd:string) AnnotationAssertion(rdfs:label "phencyclidine abuse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (basosquamous carcinoma) AnnotationAssertion(Annotation( "MESH:D002281"^^xsd:string) "A skin carcinoma that histologically exhibits both basal and squamous elements. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000529"^^xsd:string) AnnotationAssertion( "ICDO:8094/3"^^xsd:string) AnnotationAssertion( "MESH:D002281"^^xsd:string) AnnotationAssertion( "NCI:C2922"^^xsd:string) AnnotationAssertion( "RDO:0005116"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:37304002"^^xsd:string) "Basisquamous cell carcinoma"^^xsd:string) AnnotationAssertion( "Basosquamous Carcinomas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:6641007"^^xsd:string) "Metatypical carcinoma"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2000-2932"^^xsd:string) "basosquamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5063"^^xsd:string) AnnotationAssertion(rdfs:label "basosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (adjustment disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adjustment_disorder"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm"^^xsd:string) "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:309"^^xsd:string) AnnotationAssertion( "MESH:D000275"^^xsd:string) AnnotationAssertion( "Anniversary Reaction"^^xsd:string) AnnotationAssertion( "Reactive Depression"^^xsd:string) AnnotationAssertion( "Reactive Depressions"^^xsd:string) AnnotationAssertion( "Reactive Disorder"^^xsd:string) AnnotationAssertion( "Reactive Disorders"^^xsd:string) AnnotationAssertion( "Transient Situational Disturbance"^^xsd:string) AnnotationAssertion( "adjustment disease"^^xsd:string) AnnotationAssertion( "adjustment disorders"^^xsd:string) AnnotationAssertion( "adjustment reaction"^^xsd:string) AnnotationAssertion( "anniversary reactions"^^xsd:string) AnnotationAssertion( "transient situational disturbances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:507"^^xsd:string) AnnotationAssertion(rdfs:label "adjustment disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (high grade ependymoma) AnnotationAssertion(Annotation( "http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors"^^xsd:string) "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6770"^^xsd:string) AnnotationAssertion( "ependymal neoplasm"^^xsd:string) AnnotationAssertion( "ependymal tumors"^^xsd:string) AnnotationAssertion( "malignant ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5074"^^xsd:string) AnnotationAssertion(rdfs:label "high grade ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myxopapillary ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10633"^^xsd:string) AnnotationAssertion( "ICDO:9394/1"^^xsd:string) AnnotationAssertion( "NCI:C3697"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5075"^^xsd:string) AnnotationAssertion(rdfs:label "myxopapillary ependymoma"^^xsd:string) SubClassOf( ) # Class: (mixed glioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3903"^^xsd:string) AnnotationAssertion( "mixed gliomas"^^xsd:string) AnnotationAssertion( "mixed neuroglial tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5076"^^xsd:string) AnnotationAssertion(rdfs:label "mixed glioma"^^xsd:string) SubClassOf( ) # Class: (subependymal giant cell astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10632"^^xsd:string) AnnotationAssertion( "ICDO:9384/1"^^xsd:string) AnnotationAssertion( "NCI:C3696"^^xsd:string) AnnotationAssertion( "SEGA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5077"^^xsd:string) AnnotationAssertion(rdfs:label "subependymal giant cell astrocytoma"^^xsd:string) SubClassOf( ) # Class: (ganglioglioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ganglioglioma"^^xsd:string) Annotation( "http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD"^^xsd:string) "A cell type benign neoplasm that has_material_basis_in glial-type cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003094"^^xsd:string) AnnotationAssertion( "GARD:2430"^^xsd:string) AnnotationAssertion( "ICDO:9505/1"^^xsd:string) AnnotationAssertion( "MESH:D018303"^^xsd:string) AnnotationAssertion( "NCI:C27362"^^xsd:string) AnnotationAssertion( "NCI:C27363"^^xsd:string) AnnotationAssertion( "NCI:C3788"^^xsd:string) AnnotationAssertion( "ORDO:251949"^^xsd:string) AnnotationAssertion( "Benign Ganglioglioma"^^xsd:string) AnnotationAssertion( "CNS ganglioglioma"^^xsd:string) AnnotationAssertion( "Intracranial Ganglioglioma"^^xsd:string) AnnotationAssertion( "Intracranial Gangliogliomas"^^xsd:string) AnnotationAssertion( "adult ganglioglioma"^^xsd:string) AnnotationAssertion( "benign gangliogliomas"^^xsd:string) AnnotationAssertion( "childhood ganglioglioma"^^xsd:string) AnnotationAssertion( "gangliogliomas"^^xsd:string) AnnotationAssertion( "malignant ganglioglioma"^^xsd:string) AnnotationAssertion( "malignant gangliogliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5078"^^xsd:string) AnnotationAssertion(rdfs:label "ganglioglioma"^^xsd:string) SubClassOf( ) # Class: (liver cirrhosis) AnnotationAssertion(Annotation( "MESH:D008103"^^xsd:string) "Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules."^^xsd:string) AnnotationAssertion( "EFO:0001422"^^xsd:string) AnnotationAssertion( "ICD10CM:K74.60"^^xsd:string) AnnotationAssertion( "MESH:D008103"^^xsd:string) AnnotationAssertion( "NCI:C2951"^^xsd:string) AnnotationAssertion( "Hepatic Cirrhosis"^^xsd:string) AnnotationAssertion( "Hepatic Fibrosis"^^xsd:string) AnnotationAssertion( "cirrhosis"^^xsd:string) AnnotationAssertion( "cirrhosis of liver"^^xsd:string) AnnotationAssertion( "hepatic cirrhoses"^^xsd:string) AnnotationAssertion( "liver cirrhoses"^^xsd:string) AnnotationAssertion( "liver fibroses"^^xsd:string) AnnotationAssertion( "liver fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5082"^^xsd:string) AnnotationAssertion(rdfs:label "liver cirrhosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (iodine hypothyroidism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008614"^^xsd:string) AnnotationAssertion( "ICD9CM:244.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5083"^^xsd:string) AnnotationAssertion(rdfs:label "iodine hypothyroidism"^^xsd:string) SubClassOf( ) # Class: (mixed epithelial stromal tumour) AnnotationAssertion( "NCI:C37265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5088"^^xsd:string) AnnotationAssertion(rdfs:label "mixed epithelial stromal tumour"^^xsd:string) SubClassOf( ) # Class: (sternum cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=482347"^^xsd:string) "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6730"^^xsd:string) AnnotationAssertion( "NCI:C8408"^^xsd:string) AnnotationAssertion( "malignant sternal neoplasm"^^xsd:string) AnnotationAssertion( "malignant sternal tumor"^^xsd:string) AnnotationAssertion( "sternal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "neoplasm of sternum"^^xsd:string) AnnotationAssertion( "DOID:5090"^^xsd:string) AnnotationAssertion(rdfs:label "sternum cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thoracic cancer) AnnotationAssertion(Annotation( "https://radonc.ucsf.edu/thoracic-cancers"^^xsd:string) "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C76.1"^^xsd:string) AnnotationAssertion( "ICD9CM:195.1"^^xsd:string) AnnotationAssertion( "NCI:C3406"^^xsd:string) AnnotationAssertion( "NCI:C3576"^^xsd:string) AnnotationAssertion( "thorax cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5093"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear cancer) AnnotationAssertion(Annotation( "http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors"^^xsd:string) "An ear cancer that is located_in the middle ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4412"^^xsd:string) AnnotationAssertion( "neoplasm of middle ear"^^xsd:string) AnnotationAssertion( "tumor of the middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5099"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear disease) AnnotationAssertion( "NCI:C27065"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5100"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear disease"^^xsd:string) SubClassOf( ) # Class: (ear cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9337"^^xsd:string) AnnotationAssertion( "auricular cancer"^^xsd:string) AnnotationAssertion( "auricular cancers"^^xsd:string) AnnotationAssertion( "malignant ear neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5101"^^xsd:string) AnnotationAssertion(rdfs:label "ear cancer"^^xsd:string) SubClassOf( ) # Class: (inner ear cancer) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null"^^xsd:string) "An ear cancer located_in the inner ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39784"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5102"^^xsd:string) AnnotationAssertion(rdfs:label "inner ear cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular infarct) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27617"^^xsd:string) AnnotationAssertion( "infarction of testis"^^xsd:string) AnnotationAssertion( "testicular infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5104"^^xsd:string) AnnotationAssertion(rdfs:label "testicular infarct"^^xsd:string) SubClassOf( ) # Class: (copper deficiency myelopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17036563"^^xsd:string) "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013540"^^xsd:string) AnnotationAssertion( "Enzootic Ataxia"^^xsd:string) AnnotationAssertion( "Enzootic Ataxias"^^xsd:string) AnnotationAssertion( "human swayback"^^xsd:string) AnnotationAssertion( "swayback"^^xsd:string) AnnotationAssertion( "swayback of sheep"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5112"^^xsd:string) AnnotationAssertion(rdfs:label "copper deficiency myelopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nutritional deficiency disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/malnutrition.html"^^xsd:string) "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001067"^^xsd:string) AnnotationAssertion( "MESH:D003677"^^xsd:string) AnnotationAssertion( "deficiency disease"^^xsd:string) AnnotationAssertion( "deficiency diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5113"^^xsd:string) AnnotationAssertion(rdfs:label "nutritional deficiency disease"^^xsd:string) SubClassOf( ) # Class: (dermoid cyst of ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24056662"^^xsd:string) "A dermoid cyst that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "MIM:166950"^^xsd:string) AnnotationAssertion( "MESH:C562731"^^xsd:string) AnnotationAssertion( "NCI:C3856"^^xsd:string) AnnotationAssertion( "dermoid cyst"^^xsd:string) AnnotationAssertion( "ovarian dermoid cyst"^^xsd:string) AnnotationAssertion( "ovarian teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5117"^^xsd:string) AnnotationAssertion(rdfs:label "dermoid cyst of ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian cystic teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22902841"^^xsd:string) "A cystic teratoma that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7283"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5118"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian cystic teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian cyst) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ovarian_cyst"^^xsd:string) "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N83.2"^^xsd:string) AnnotationAssertion( "ICD9CM:620.2"^^xsd:string) AnnotationAssertion( "MESH:D010048"^^xsd:string) AnnotationAssertion( "ovarian cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5119"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epididymal neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39958"^^xsd:string) AnnotationAssertion( "neoplasm of epididymis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:512"^^xsd:string) AnnotationAssertion(rdfs:label "epididymal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/"^^xsd:string) "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6598"^^xsd:string) AnnotationAssertion( "leiomyoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5123"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/"^^xsd:string) "A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40127"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5124"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrahepatic bile duct leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11896229"^^xsd:string) "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5855"^^xsd:string) AnnotationAssertion( "RDO:9003385"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5855"^^xsd:string) "leiomyoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5125"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (central nervous system leiomyoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30725665/"^^xsd:string) "A central nervous system benign neoplasm that derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6998"^^xsd:string) AnnotationAssertion( "leiomyoma of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5126"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bizarre leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html"^^xsd:string) "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8893/0"^^xsd:string) AnnotationAssertion( "NCI:C4257"^^xsd:string) AnnotationAssertion( "Atypical leiomyoma"^^xsd:string) AnnotationAssertion( "Pleomorphic leiomyoma"^^xsd:string) AnnotationAssertion( "Symplastic leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5127"^^xsd:string) AnnotationAssertion(rdfs:label "bizarre leiomyoma"^^xsd:string) SubClassOf( ) # Class: (deep leiomyoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27186256"^^xsd:string) "A leiomyoma that is located_in deep soft tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6512"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5128"^^xsd:string) AnnotationAssertion(rdfs:label "deep leiomyoma"^^xsd:string) SubClassOf( ) # Class: (simple partial epilepsy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:345.51"^^xsd:string) AnnotationAssertion( "simple partial epilepsies"^^xsd:string) AnnotationAssertion( "simple partial seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5129"^^xsd:string) AnnotationAssertion(rdfs:label "simple partial epilepsy"^^xsd:string) SubClassOf( ) # Class: (leiomyoma cutis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4482"^^xsd:string) AnnotationAssertion( "cutaneous leiomyoma"^^xsd:string) AnnotationAssertion( "leiomyoma of the skin"^^xsd:string) AnnotationAssertion( "MULTIPLE CUTANEOUS LEIOMYOMAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5132"^^xsd:string) AnnotationAssertion(rdfs:label "leiomyoma cutis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9187805"^^xsd:string) "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5608"^^xsd:string) AnnotationAssertion( "leiomyoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5134"^^xsd:string) AnnotationAssertion(rdfs:label "anus leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26941368"^^xsd:string) "A lung benign neoplasm that derives_from some smooth muscle cell. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5660"^^xsd:string) AnnotationAssertion( "pulmonary leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5136"^^xsd:string) AnnotationAssertion(rdfs:label "lung leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pericardium leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4453980"^^xsd:string) "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6743"^^xsd:string) AnnotationAssertion( "leiomyoma of pericardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5137"^^xsd:string) AnnotationAssertion(rdfs:label "pericardium leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (leiomyomatosis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer"^^xsd:string) "A leiomyoma that is multiple and diffuse. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8890/1"^^xsd:string) AnnotationAssertion( "MESH:D018231"^^xsd:string) AnnotationAssertion( "NCI:C3748"^^xsd:string) AnnotationAssertion( "leiomyomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5138"^^xsd:string) AnnotationAssertion(rdfs:label "leiomyomatosis"^^xsd:string) SubClassOf( ) # Class: (cellular leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html"^^xsd:string) "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8892/0"^^xsd:string) AnnotationAssertion( "NCI:C4256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5139"^^xsd:string) AnnotationAssertion(rdfs:label "cellular leiomyoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17059154"^^xsd:string) "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5747"^^xsd:string) AnnotationAssertion( "leiomyoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5140"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/"^^xsd:string) "A vulvar benign neoplasm that is located_in smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40326"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5142"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar leiomyoma"^^xsd:string) SubClassOf( ) # Class: (large bowel leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17201349"^^xsd:string) "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5677"^^xsd:string) AnnotationAssertion( "RDO:9003317"^^xsd:string) AnnotationAssertion( "leiomyoma of large intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5143"^^xsd:string) AnnotationAssertion(rdfs:label "large bowel leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (appendix leiomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7414395"^^xsd:string) "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5514"^^xsd:string) AnnotationAssertion( "appendiceal leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5146"^^xsd:string) AnnotationAssertion(rdfs:label "appendix leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dartoic leiomyoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27529047"^^xsd:string) "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4483"^^xsd:string) AnnotationAssertion( "dartoic myoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5147"^^xsd:string) AnnotationAssertion(rdfs:label "dartoic leiomyoma"^^xsd:string) SubClassOf( ) # Class: (epithelioid neurofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5149"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid neurofibroma"^^xsd:string) SubClassOf( ) # Class: (neurofibroma of gallbladder) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5746"^^xsd:string) AnnotationAssertion( "RDO:9003124"^^xsd:string) AnnotationAssertion( "neurofibroma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5150"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibroma of gallbladder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (plexiform neurofibroma) AnnotationAssertion(Annotation( "MESH:D018318"^^xsd:string) "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)"^^xsd:string) AnnotationAssertion( "EFO:0000658"^^xsd:string) AnnotationAssertion( "ICDO:9550/0"^^xsd:string) AnnotationAssertion( "MESH:D018318"^^xsd:string) AnnotationAssertion( "NCI:C3797"^^xsd:string) AnnotationAssertion( "RDO:0007179"^^xsd:string) AnnotationAssertion( "Elephantiasis Neuromatoses"^^xsd:string) AnnotationAssertion( "Elephantiasis Neuromatosis"^^xsd:string) AnnotationAssertion( "Pachydermatocele"^^xsd:string) AnnotationAssertion( "Pachydermatoceles"^^xsd:string) AnnotationAssertion( "Plexiform Neurofibromas"^^xsd:string) AnnotationAssertion( "Plexiform Neuroma"^^xsd:string) AnnotationAssertion( "Plexiform Neuromas"^^xsd:string) AnnotationAssertion( "Tumor Royale"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5151"^^xsd:string) AnnotationAssertion(rdfs:label "plexiform neurofibroma"^^xsd:string) SubClassOf( ) # Class: (cellular neurofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41427"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5152"^^xsd:string) AnnotationAssertion(rdfs:label "cellular neurofibroma"^^xsd:string) SubClassOf( ) # Class: (atypical neurofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41426"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5153"^^xsd:string) AnnotationAssertion(rdfs:label "atypical neurofibroma"^^xsd:string) SubClassOf( ) # Class: (borna disease) AnnotationAssertion(Annotation( "http://www.biomedcentral.com/1471-244X/10/70"^^xsd:string) "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007178"^^xsd:string) AnnotationAssertion( "MESH:D001890"^^xsd:string) AnnotationAssertion( "enzootic encephalomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5154"^^xsd:string) AnnotationAssertion(rdfs:label "borna disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple mucosal neuroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6559"^^xsd:string) AnnotationAssertion( "RDO:9004494"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5155"^^xsd:string) AnnotationAssertion(rdfs:label "multiple mucosal neuroma"^^xsd:string) SubClassOf( ) # Class: (benign pleural mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000485"^^xsd:string) AnnotationAssertion( "NCI:C9351"^^xsd:string) AnnotationAssertion( "mesothelioma of pleura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5157"^^xsd:string) AnnotationAssertion(rdfs:label "benign pleural mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pleural cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pleural_cavity"^^xsd:string) "A connective tissue cancer that located_in the pleura. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "neoplasm of pleura"^^xsd:string) AnnotationAssertion( "EFO:1000362"^^xsd:string) AnnotationAssertion( "ICD10CM:C38.4"^^xsd:string) AnnotationAssertion( "ICD9CM:163"^^xsd:string) AnnotationAssertion( "NCI:C3547"^^xsd:string) AnnotationAssertion( "malignant pleural neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5158"^^xsd:string) AnnotationAssertion(rdfs:label "pleural cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arteriosclerosis obliterans) AnnotationAssertion(Annotation( "MESH:D001162"^^xsd:string) "Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION."^^xsd:string) AnnotationAssertion( "EFO:1000820"^^xsd:string) AnnotationAssertion( "MESH:D001162"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5160"^^xsd:string) AnnotationAssertion(rdfs:label "arteriosclerosis obliterans"^^xsd:string) SubClassOf( ) # Class: (Monckeberg arteriosclerosis) AnnotationAssertion(Annotation( "MESH:D050380"^^xsd:string) "Thickening and loss of elasticity of the walls of muscular ARTERIES due to calcification of the TUNICA MEDIA, the concentric layers of helically arranged SMOOTH MUSCLE CELLS."^^xsd:string) AnnotationAssertion( "MESH:D050380"^^xsd:string) AnnotationAssertion( "RDO:0007570"^^xsd:string) AnnotationAssertion( "Medial Calcific Scleroses"^^xsd:string) AnnotationAssertion( "Medial Calcific Sclerosis"^^xsd:string) AnnotationAssertion( "Monckeberg Medial Calcific Sclerosis"^^xsd:string) AnnotationAssertion( "Monckeberg Sclerosis"^^xsd:string) AnnotationAssertion( "Monckeberg's Medial Calcific Sclerosis"^^xsd:string) AnnotationAssertion( "Monckeberg's Sclerosis"^^xsd:string) AnnotationAssertion( "Monckebergs Sclerosis"^^xsd:string) AnnotationAssertion( "Mönckeberg Medial Calcific Sclerosis"^^xsd:string) AnnotationAssertion( "Mönckeberg Sclerosis"^^xsd:string) AnnotationAssertion( "Mönckeberg's Medial Calcific Sclerosis"^^xsd:string) AnnotationAssertion( "Mönckeberg's Sclerosis"^^xsd:string) AnnotationAssertion( "Mönckebergs Sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5161"^^xsd:string) AnnotationAssertion(rdfs:label "Monckeberg arteriosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (arteriolosclerosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Arteriolosclerosis"^^xsd:string) "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000819"^^xsd:string) AnnotationAssertion( "MESH:D050379"^^xsd:string) AnnotationAssertion( "NCI:C35543"^^xsd:string) AnnotationAssertion( "Arterioloscleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5162"^^xsd:string) AnnotationAssertion(rdfs:label "arteriolosclerosis"^^xsd:string) SubClassOf( ) # Class: (uterine corpus sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient"^^xsd:string) "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002914"^^xsd:string) AnnotationAssertion( "EFO:0010833"^^xsd:string) AnnotationAssertion( "GARD:9383"^^xsd:string) AnnotationAssertion( "NCI:C6339"^^xsd:string) AnnotationAssertion( "sarcoma of corpus uteri"^^xsd:string) AnnotationAssertion( "sarcoma of uterus"^^xsd:string) AnnotationAssertion( "uterine sarcoma"^^xsd:string) AnnotationAssertion( "uterine corpus undifferentiated sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5165"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial stromal tumor) AnnotationAssertion(Annotation( "MESH:D036821"^^xsd:string) "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)."^^xsd:string) AnnotationAssertion( "EFO:1000920"^^xsd:string) AnnotationAssertion( "MESH:D036821"^^xsd:string) AnnotationAssertion( "Endolymphatic Stromal Myoses"^^xsd:string) AnnotationAssertion( "Endolymphatic Stromal Myosis"^^xsd:string) AnnotationAssertion( "Sarcoma, Endometrial Stromal, Low-Grade"^^xsd:string) AnnotationAssertion( "endometrial stromal neoplasm"^^xsd:string) AnnotationAssertion( "endometrial stromal tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5166"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial stromal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ovarian endometrioid stromal sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/"^^xsd:string) "An ovary sarcoma that arises from endometrial stromal tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40065"^^xsd:string) AnnotationAssertion( "RDO:9001892"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5169"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrioid stromal sarcoma"^^xsd:string) SubClassOf( ) # Class: (vaginal endometrial stromal sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24294390"^^xsd:string) "A vagina sarcoma that has_material_basis_in endometrial stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5170"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal endometrial stromal sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vaginal endometrial stromal tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24294390"^^xsd:string) "A vaginal cancer that has_material_basis_in endometrial stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40269"^^xsd:string) AnnotationAssertion( "RDO:9004612"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5171"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal endometrial stromal tumor"^^xsd:string) SubClassOf( ) # Class: (endometrium carcinoma in situ) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/0002937866903917"^^xsd:string) "An in situ carcinoma that is located_in the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D07.0"^^xsd:string) AnnotationAssertion( "carcinoma in situ of endometrium"^^xsd:string) AnnotationAssertion( "endometrial carcinoma in situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5172"^^xsd:string) AnnotationAssertion(rdfs:label "endometrium carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6951"^^xsd:string) AnnotationAssertion( "nonanaplastic renal Wilm's tumor"^^xsd:string) AnnotationAssertion( "nonanaplastic renal Wilm's tumour"^^xsd:string) AnnotationAssertion( "nonanaplastic renal Wilms tumor"^^xsd:string) AnnotationAssertion( "renal Wilms' tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5176"^^xsd:string) AnnotationAssertion(rdfs:label "renal Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (metachronous kidney Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38158"^^xsd:string) AnnotationAssertion( "RDO:9004734"^^xsd:string) AnnotationAssertion( "metachronous Wilms tumor of the kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5178"^^xsd:string) AnnotationAssertion(rdfs:label "metachronous kidney Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (mixed cell type kidney Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9149"^^xsd:string) AnnotationAssertion( "RDO:9004735"^^xsd:string) AnnotationAssertion( "mixed cell type kidney Wilms' tumour"^^xsd:string) AnnotationAssertion( "mixed cell type renal Wilms tumor"^^xsd:string) AnnotationAssertion( "mixed cell type renal Wilms tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5179"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cell type kidney Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (scrotum neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C63.2"^^xsd:string) AnnotationAssertion( "ICD9CM:187.7"^^xsd:string) AnnotationAssertion( "NCI:C3560"^^xsd:string) AnnotationAssertion( "NCI:C4380"^^xsd:string) AnnotationAssertion( "malignant scrotal neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of scrotum"^^xsd:string) AnnotationAssertion( "malignant tumour of scrotum"^^xsd:string) AnnotationAssertion( "neoplasm of scrotum"^^xsd:string) AnnotationAssertion( "scrotal Ca"^^xsd:string) AnnotationAssertion( "scrotal tumor"^^xsd:string) AnnotationAssertion( "scrotum cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:518"^^xsd:string) AnnotationAssertion(rdfs:label "scrotum neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blastema predominant kidney Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9147"^^xsd:string) AnnotationAssertion( "RDO:9004736"^^xsd:string) AnnotationAssertion( "Blastema Predominant renal Wilms tumor"^^xsd:string) AnnotationAssertion( "Blastema Predominant renal Wilms tumour"^^xsd:string) AnnotationAssertion( "blastema predominant kidney Wilms' tumour"^^xsd:string) AnnotationAssertion( "blastema predominant kidney adenosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5182"^^xsd:string) AnnotationAssertion(rdfs:label "blastema predominant kidney Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (hereditary Wilms' tumor) AnnotationAssertion(Annotation( "http://www.cancerindex.org/geneweb/X210202.htm"^^xsd:string) "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8496"^^xsd:string) AnnotationAssertion( "WT1"^^xsd:string) AnnotationAssertion( "hereditary Wilms' tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PREDISPOSITION TO WILMS TUMOR, CTR9-RELATED"^^xsd:string) AnnotationAssertion( "DOID:5183"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (epithelial predominant Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9146"^^xsd:string) AnnotationAssertion( "epithelial predominant Wilms' tumour"^^xsd:string) AnnotationAssertion( "epithelial predominant kidney adenosarcoma"^^xsd:string) AnnotationAssertion( "epithelial predominant renal Wilms tumor"^^xsd:string) AnnotationAssertion( "epithelial predominant renal Wilms tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5189"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial predominant Wilms' tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortitis) AnnotationAssertion(Annotation( "MESH:D001025"^^xsd:string) "Inflammation of the wall of the AORTA."^^xsd:string) AnnotationAssertion( "LARGE VESSEL VASCULITIS"^^xsd:string) AnnotationAssertion( "EFO:1000816"^^xsd:string) AnnotationAssertion( "ICD10CM:I77.6"^^xsd:string) AnnotationAssertion( "MESH:D001025"^^xsd:string) AnnotationAssertion( "NCI:C97085"^^xsd:string) AnnotationAssertion( "aortitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:519"^^xsd:string) AnnotationAssertion(rdfs:label "aortitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical Wilms' tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10620450"^^xsd:string) "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000173"^^xsd:string) AnnotationAssertion( "NCI:C40236"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5190"^^xsd:string) AnnotationAssertion(rdfs:label "cervical Wilms' tumor"^^xsd:string) SubClassOf( ) # Class: (stromal predominant kidney Wilms' tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000551"^^xsd:string) AnnotationAssertion( "NCI:C9148"^^xsd:string) AnnotationAssertion( "RDO:9004902"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9148"^^xsd:string) "Stromal Predominant renal Wilms tumor"^^xsd:string) AnnotationAssertion( "Stromal Predominant renal Wilms tumour"^^xsd:string) AnnotationAssertion( "stromal predominant kidney Wilms' tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5191"^^xsd:string) AnnotationAssertion(rdfs:label "stromal predominant kidney Wilms' tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodular ganglioneuroblastoma) AnnotationAssertion( "NCI:C42058"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5193"^^xsd:string) AnnotationAssertion(rdfs:label "nodular ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (intermixed schwannian stroma-rich ganglioneuroblastoma) AnnotationAssertion( "NCI:C42057"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5194"^^xsd:string) AnnotationAssertion(rdfs:label "intermixed schwannian stroma-rich ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (peripheral nervous system ganglioneuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6594"^^xsd:string) AnnotationAssertion( "PNS ganglioneuroblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5195"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nervous system ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube adenomatoid tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13222203"^^xsd:string) "A fallopian tube benign neoplasm that derives_from mesothelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40129"^^xsd:string) AnnotationAssertion( "RDO:9004999"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5196"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube adenomatoid tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureteral obstruction) AnnotationAssertion(Annotation( "MESH:D014517"^^xsd:string) "Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy."^^xsd:string) AnnotationAssertion( "ICD9CM:593.4"^^xsd:string) AnnotationAssertion( "MESH:D014517"^^xsd:string) AnnotationAssertion( "RDO:0003206"^^xsd:string) AnnotationAssertion( "Ureteral Obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5199"^^xsd:string) AnnotationAssertion(rdfs:label "ureteral obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortic disease) AnnotationAssertion(Annotation( "http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html"^^xsd:string) "An artery disease that is characterized by degeneration of the cells composing the aortic wall. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005775"^^xsd:string) AnnotationAssertion( "MESH:D001018"^^xsd:string) AnnotationAssertion( "NCI:C101253"^^xsd:string) AnnotationAssertion( "Aortopathy"^^xsd:string) AnnotationAssertion( "Familial Aortopathy"^^xsd:string) AnnotationAssertion( "aortic diseases"^^xsd:string) AnnotationAssertion( "aortic disorder"^^xsd:string) AnnotationAssertion( "disorder of the aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:520"^^xsd:string) AnnotationAssertion(rdfs:label "aortic disease"^^xsd:string) SubClassOf( ) # Class: (urinary tract obstruction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009571"^^xsd:string) AnnotationAssertion( "ICD10CM:N13.9"^^xsd:string) AnnotationAssertion( "ICD9CM:599.6"^^xsd:string) AnnotationAssertion( "NCI:C3675"^^xsd:string) AnnotationAssertion( "NCI:C79805"^^xsd:string) AnnotationAssertion( "obstructive uropathy"^^xsd:string) AnnotationAssertion( "urinary obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5200"^^xsd:string) AnnotationAssertion(rdfs:label "urinary tract obstruction"^^xsd:string) SubClassOf( ) # Class: (fructose-1,6-bisphosphatase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency"^^xsd:string) "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:229700"^^xsd:string) AnnotationAssertion( "GARD:2400"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.19"^^xsd:string) AnnotationAssertion( "MESH:D015319"^^xsd:string) AnnotationAssertion( "NCI:C128119"^^xsd:string) AnnotationAssertion( "FBP1D"^^xsd:string) AnnotationAssertion( "Fructose Biphosphatase Deficiency"^^xsd:string) AnnotationAssertion( "Fructose-1,6-Diphosphatase Deficiency"^^xsd:string) AnnotationAssertion( "Fructose-Biphosphatase Deficiencies"^^xsd:string) AnnotationAssertion( "Fructosediphosphatase Deficiencies"^^xsd:string) AnnotationAssertion( "Fructosediphosphatase Deficiency"^^xsd:string) AnnotationAssertion( "fructose 1 phosphate aldolase deficiency"^^xsd:string) AnnotationAssertion( "fructose-1,6-bisphosphatase deficiencies"^^xsd:string) AnnotationAssertion( "fructose-1,6-diphosphatase deficiencies"^^xsd:string) AnnotationAssertion( "hexosediphosphatase deficiencies"^^xsd:string) AnnotationAssertion( "hexosediphosphatase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5204"^^xsd:string) AnnotationAssertion(rdfs:label "fructose-1,6-bisphosphatase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (monodermal teratoma) AnnotationAssertion(Annotation( "https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475"^^xsd:string) "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7286"^^xsd:string) AnnotationAssertion( "ovarian monodermal teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5207"^^xsd:string) AnnotationAssertion(rdfs:label "monodermal teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant struma ovarii) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25640097"^^xsd:string) "A struma ovarii that is cancerous. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4291"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5208"^^xsd:string) AnnotationAssertion(rdfs:label "malignant struma ovarii"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (congenital disorder of glycosylation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation"^^xsd:string) "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10307"^^xsd:string) AnnotationAssertion( "HP:0012358"^^xsd:string) AnnotationAssertion( "MESH:D018981"^^xsd:string) AnnotationAssertion( "NCI:C84615"^^xsd:string) AnnotationAssertion( "ORDO:137"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndrome"^^xsd:string) AnnotationAssertion( "carbohydrate-deficient glycoprotein syndromes"^^xsd:string) AnnotationAssertion( "congenital disorders of glycosylation"^^xsd:string) AnnotationAssertion( "Abnormal protein O-linked glycosylation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5212"^^xsd:string) AnnotationAssertion(rdfs:label "congenital disorder of glycosylation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic inflammatory demyelinating polyradiculoneuropathy) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/"^^xsd:string) "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009538"^^xsd:string) AnnotationAssertion( "EFO:1000868"^^xsd:string) AnnotationAssertion( "GARD:6102"^^xsd:string) AnnotationAssertion( "ICD10CM:G61.81"^^xsd:string) AnnotationAssertion( "ICD9CM:357.81"^^xsd:string) AnnotationAssertion( "MESH:D020277"^^xsd:string) AnnotationAssertion( "CIDP"^^xsd:string) AnnotationAssertion( "Chronic Inflammatory Polyradiculoneuropathy"^^xsd:string) AnnotationAssertion( "Chronic Inflammatory Polyradiculopathies"^^xsd:string) AnnotationAssertion( "Chronic Inflammatory Polyradiculopathy"^^xsd:string) AnnotationAssertion( "chronic inflammatory demyelinating polyneuropathy"^^xsd:string) AnnotationAssertion( "chronic inflammatory polyradiculoneuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5213"^^xsd:string) AnnotationAssertion(rdfs:label "chronic inflammatory demyelinating polyradiculoneuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (demyelinating polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27062"^^xsd:string) AnnotationAssertion( "RDO:9004833"^^xsd:string) AnnotationAssertion( "peripheral demyelinating neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5214"^^xsd:string) AnnotationAssertion(rdfs:label "demyelinating polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (chronic polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36071"^^xsd:string) AnnotationAssertion( "RDO:9004834"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5221"^^xsd:string) AnnotationAssertion(rdfs:label "chronic polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (acute necrotizing encephalitis) AnnotationAssertion( "NCI:C35383"^^xsd:string) AnnotationAssertion( "acute necrotizing encephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5222"^^xsd:string) AnnotationAssertion(rdfs:label "acute necrotizing encephalitis"^^xsd:string) SubClassOf( ) # Class: (infertility) AnnotationAssertion(Annotation( "MESH:D007246"^^xsd:string) "A reduced or absent capacity to reproduce."^^xsd:string) AnnotationAssertion( "EFO:0000545"^^xsd:string) AnnotationAssertion( "MESH:D007246"^^xsd:string) AnnotationAssertion( "MIM:PS616814"^^xsd:string) AnnotationAssertion( "NCI:C3836"^^xsd:string) AnnotationAssertion( "male and female infertility"^^xsd:string) AnnotationAssertion( "reproductive sterility"^^xsd:string) AnnotationAssertion( "sterility"^^xsd:string) AnnotationAssertion( "sub-fertility"^^xsd:string) AnnotationAssertion( "subfertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5223"^^xsd:string) AnnotationAssertion(rdfs:label "infertility"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute hemorrhagic encephalitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35796"^^xsd:string) AnnotationAssertion( "RDO:9002787"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5224"^^xsd:string) AnnotationAssertion(rdfs:label "acute hemorrhagic encephalitis"^^xsd:string) SubClassOf( ) # Class: (von Economo's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A85.8"^^xsd:string) AnnotationAssertion( "NCI:C26761"^^xsd:string) AnnotationAssertion( "RDO:9002792"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:186500003"^^xsd:string) "Encephalitis lethargica"^^xsd:string) AnnotationAssertion( "von Economo disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5225"^^xsd:string) AnnotationAssertion(rdfs:label "von Economo's disease"^^xsd:string) SubClassOf( ) # Class: (hepatoerythropoietic porphyria) AnnotationAssertion(Annotation( "MESH:D017121"^^xsd:string) "An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating."^^xsd:string) AnnotationAssertion( "GARD:6169"^^xsd:string) AnnotationAssertion( "MESH:D017121"^^xsd:string) AnnotationAssertion( "NCI:C84754"^^xsd:string) AnnotationAssertion( "ORDO:95159"^^xsd:string) AnnotationAssertion( "Erythrohepatic Porphyria"^^xsd:string) AnnotationAssertion( "erythrohepatic porphyrias"^^xsd:string) AnnotationAssertion( "hepatoerythropoietic porphyrias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5230"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoerythropoietic porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortic valve prolapse) AnnotationAssertion(Annotation( "MESH:D001023"^^xsd:string) "The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation."^^xsd:string) AnnotationAssertion( "EFO:1000815"^^xsd:string) AnnotationAssertion( "MESH:D001023"^^xsd:string) AnnotationAssertion( "aortic valve prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5232"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomangiosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8710/3"^^xsd:string) AnnotationAssertion( "NCI:C4221"^^xsd:string) AnnotationAssertion( "RDO:9003006"^^xsd:string) AnnotationAssertion( "malignant Glomus neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5233"^^xsd:string) AnnotationAssertion(rdfs:label "glomangiosarcoma"^^xsd:string) SubClassOf( ) # Class: (subungual glomus tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003341"^^xsd:string) AnnotationAssertion( "NCI:C36079"^^xsd:string) AnnotationAssertion( "subungual glomus tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5236"^^xsd:string) AnnotationAssertion(rdfs:label "subungual glomus tumor"^^xsd:string) SubClassOf( ) # Class: (benign perivascular tumor) AnnotationAssertion( "NCI:C6529"^^xsd:string) AnnotationAssertion( "RDO:9004599"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5238"^^xsd:string) AnnotationAssertion(rdfs:label "benign perivascular tumor"^^xsd:string) SubClassOf( ) # Class: (retinal hemangioblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39783"^^xsd:string) AnnotationAssertion( "Capillary hemangioma of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5240"^^xsd:string) AnnotationAssertion(rdfs:label "retinal hemangioblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemangioblastoma) AnnotationAssertion(Annotation( "MESH:D018325"^^xsd:string) "A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)"^^xsd:string) AnnotationAssertion( "RDO:0007184"^^xsd:string) AnnotationAssertion( "GARD:8232"^^xsd:string) AnnotationAssertion( "GARD:8522"^^xsd:string) AnnotationAssertion( "ICDO:9161/1"^^xsd:string) AnnotationAssertion( "MESH:D018325"^^xsd:string) AnnotationAssertion( "NCI:C3801"^^xsd:string) AnnotationAssertion( "Multiple Hemangioblastoma"^^xsd:string) AnnotationAssertion( "capillary hemangioblastoma"^^xsd:string) AnnotationAssertion( "hemangioblastomas"^^xsd:string) AnnotationAssertion( "multiple hemangioblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5241"^^xsd:string) AnnotationAssertion(rdfs:label "hemangioblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (central nervous system vasculitis) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis"^^xsd:string) "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020293"^^xsd:string) AnnotationAssertion( "NCI:C84622"^^xsd:string) AnnotationAssertion( "CNS Vasculitis"^^xsd:string) AnnotationAssertion( "central nervous system angiitis"^^xsd:string) AnnotationAssertion( "cerebral angiitis"^^xsd:string) AnnotationAssertion( "cerebral vasculitis"^^xsd:string) AnnotationAssertion( "granulomatous arteritis"^^xsd:string) AnnotationAssertion( "postzoster arteritis"^^xsd:string) AnnotationAssertion( "primary CNS vasculitis"^^xsd:string) AnnotationAssertion( "primary central nervous system vasculitis"^^xsd:string) AnnotationAssertion( "secondary CNS vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:525"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (inflammatory leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/modpathol2017113"^^xsd:string) "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27495"^^xsd:string) AnnotationAssertion( "RDO:9003935"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5251"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (conventional leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733"^^xsd:string) "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9428"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5253"^^xsd:string) AnnotationAssertion(rdfs:label "conventional leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (central nervous system leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10761660"^^xsd:string) "A leiomyosarcoma that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6999"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5254"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (granular cell leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3232754"^^xsd:string) "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27494"^^xsd:string) AnnotationAssertion( "RDO:9003939"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5258"^^xsd:string) AnnotationAssertion(rdfs:label "granular cell leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon leiomyosarcoma) AnnotationAssertion(Annotation( "http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm"^^xsd:string) "A leiomyosarcoma and sarcoma of colon that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5494"^^xsd:string) AnnotationAssertion( "colonic leiomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5259"^^xsd:string) AnnotationAssertion(rdfs:label "colon leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (human immunodeficiency virus infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/HIV"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm"^^xsd:string) "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609423"^^xsd:string) AnnotationAssertion( "EFO:0000180"^^xsd:string) AnnotationAssertion( "EFO:0000764"^^xsd:string) AnnotationAssertion( "ICD10CM:B20"^^xsd:string) AnnotationAssertion( "ICD9CM:042-042.99"^^xsd:string) AnnotationAssertion( "MESH:D015658"^^xsd:string) AnnotationAssertion( "NCI:C3108"^^xsd:string) AnnotationAssertion( "HIV Infection"^^xsd:string) AnnotationAssertion( "HIV Infections"^^xsd:string) AnnotationAssertion( "HTLV III Infections"^^xsd:string) AnnotationAssertion( "HTLV III LAV Infections"^^xsd:string) AnnotationAssertion( "HTLV-III Infection"^^xsd:string) AnnotationAssertion( "HTLV-III-LAV Infection"^^xsd:string) AnnotationAssertion( "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "T Lymphotropic Virus Type III Infections, Human"^^xsd:string) AnnotationAssertion( "Congenital human immunodeficiency virus"^^xsd:string) AnnotationAssertion( "HIV-1 viremia, susceptibility to"^^xsd:string) AnnotationAssertion( "HIV-1, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, DELAYED DISEASE PROGRESSION WITH INFECTION BY"^^xsd:string) AnnotationAssertion( "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF"^^xsd:string) AnnotationAssertion( "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID DISEASE PROGRESSION WITH INFECTION BY"^^xsd:string) AnnotationAssertion( "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CCR5 PROMOTER POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:526"^^xsd:string) AnnotationAssertion(rdfs:label "human immunodeficiency virus infectious disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colon sarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31243197/"^^xsd:string) "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5495"^^xsd:string) AnnotationAssertion( "colonic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5260"^^xsd:string) AnnotationAssertion(rdfs:label "colon sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart leiomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5364"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5261"^^xsd:string) AnnotationAssertion(rdfs:label "heart leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart sarcoma) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma"^^xsd:string) "A sarcoma and malignant neoplasm of heart that is located_in the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7723"^^xsd:string) AnnotationAssertion( "cardiac sarcoma"^^xsd:string) AnnotationAssertion( "sarcoma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5262"^^xsd:string) AnnotationAssertion(rdfs:label "heart sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovary leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22873115"^^xsd:string) "An ovary sarcoma that arises from smooth muscle progenitors. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006718"^^xsd:string) AnnotationAssertion( "NCI:C5234"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5263"^^xsd:string) AnnotationAssertion(rdfs:label "ovary leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelioid leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28288693"^^xsd:string) "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8891/3"^^xsd:string) AnnotationAssertion( "NCI:C3700"^^xsd:string) AnnotationAssertion( "RDO:9003933"^^xsd:string) AnnotationAssertion( "epithelioid leiomyosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5264"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (lung leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/"^^xsd:string) "A leiomyosarcoma and sarcoma of lung that is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5667"^^xsd:string) AnnotationAssertion( "pulmonary leiomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5265"^^xsd:string) AnnotationAssertion(rdfs:label "lung leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anus leiomyosarcoma) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/t57853114066u8n8/"^^xsd:string) "A leiomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5599"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5267"^^xsd:string) AnnotationAssertion(rdfs:label "anus leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myxoid leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26866354"^^xsd:string) "A leiomyosarcoma that is characterized by abundant myxoid stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8896/3"^^xsd:string) AnnotationAssertion( "NCI:C3701"^^xsd:string) AnnotationAssertion( "myxoid leiomyosarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5268"^^xsd:string) AnnotationAssertion(rdfs:label "myxoid leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (small intestine leiomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string) "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7085"^^xsd:string) AnnotationAssertion( "RDO:9003973"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the small bowel"^^xsd:string) AnnotationAssertion( "smooth muscle connective tissue tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5271"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small intestinal sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/smallintestine"^^xsd:string) "A sarcoma and malignant tumor of small intestine that is located_in the small intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5335"^^xsd:string) AnnotationAssertion( "sarcoma of the small intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5272"^^xsd:string) AnnotationAssertion(rdfs:label "small intestinal sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous leiomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4484"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5273"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant dermis tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4574"^^xsd:string) AnnotationAssertion( "RDO:9002981"^^xsd:string) AnnotationAssertion( "malignant dermis tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4574"^^xsd:string) "malignant neoplasm of Dermis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:255096006"^^xsd:string) "malignant tumor of dermis"^^xsd:string) AnnotationAssertion( "malignant tumour of dermis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5274"^^xsd:string) AnnotationAssertion(rdfs:label "malignant dermis tumor"^^xsd:string) SubClassOf( ) # Class: (gallbladder leiomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2278917"^^xsd:string) "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5841"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5275"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus leiomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5334"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of esophagus"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of oesophagus"^^xsd:string) AnnotationAssertion( "oesophagus leiomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5276"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hydrarthrosis) AnnotationAssertion(Annotation( "MESH:D006833"^^xsd:string) "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "ICD9CM:719.08"^^xsd:string) AnnotationAssertion( "MESH:D006833"^^xsd:string) AnnotationAssertion( "hydrarthroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:528"^^xsd:string) AnnotationAssertion(rdfs:label "hydrarthrosis"^^xsd:string) SubClassOf( ) # Class: (gastric leiomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5280"^^xsd:string) AnnotationAssertion(rdfs:label "gastric leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate leiomyosarcoma) AnnotationAssertion(Annotation( "http://www3.interscience.wiley.com/journal/112677325/abstract"^^xsd:string) "A prostate sarcoma that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5526"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5282"^^xsd:string) AnnotationAssertion(rdfs:label "prostate leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vagina leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25909129"^^xsd:string) "A vagina sarcoma that has_material_basis_in smooth muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6326"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the vagina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5283"^^xsd:string) AnnotationAssertion(rdfs:label "vagina leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retroperitoneal leiomyosarcoma) AnnotationAssertion( "NCI:C27904"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5284"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (breast leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/"^^xsd:string) "A breast sarcoma that arises from smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5186"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5285"^^xsd:string) AnnotationAssertion(rdfs:label "breast leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26010680"^^xsd:string) "A vulvar sarcoma that has_material_basis_in smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001975"^^xsd:string) AnnotationAssertion( "NCI:C40318"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5286"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar leiomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (kidney leiomyosarcoma) AnnotationAssertion(Annotation( "http://www.sage-hindawi.com/journals/pri/2010/652398.html"^^xsd:string) "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6183"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5287"^^xsd:string) AnnotationAssertion(rdfs:label "kidney leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (larynx leiomyosarcoma) AnnotationAssertion(Annotation( "http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/"^^xsd:string) "A leiomyosarcoma located_in the larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6022"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5288"^^xsd:string) AnnotationAssertion(rdfs:label "larynx leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterus leiomyosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leiomyosarcoma"^^xsd:string) "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001974"^^xsd:string) AnnotationAssertion( "NCI:C6340"^^xsd:string) AnnotationAssertion( "ORDO:213625"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of Corpus Uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5289"^^xsd:string) AnnotationAssertion(rdfs:label "uterus leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blepharospasm) AnnotationAssertion(Annotation( "http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm"^^xsd:string) "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5909"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.5"^^xsd:string) AnnotationAssertion( "ICD9CM:333.81"^^xsd:string) AnnotationAssertion( "MESH:D001764"^^xsd:string) AnnotationAssertion( "NCI:C118723"^^xsd:string) AnnotationAssertion( "blepharospasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:529"^^xsd:string) AnnotationAssertion(rdfs:label "blepharospasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum leiomyosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33776690/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/34446630/"^^xsd:string) "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6619"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5292"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extrahepatic bile duct leiomyosarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=44498"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string) "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5848"^^xsd:string) AnnotationAssertion( "RDO:9004013"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5293"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (intestinal disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string) "A gastrointestinal system disease that is located_in the intestine. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:002031"^^xsd:string) AnnotationAssertion( "EFO:0009431"^^xsd:string) AnnotationAssertion( "EFO:0009705"^^xsd:string) AnnotationAssertion( "ICD10CM:K63.9"^^xsd:string) AnnotationAssertion( "ICD9CM:569.9"^^xsd:string) AnnotationAssertion( "MESH:D007410"^^xsd:string) AnnotationAssertion( "NCI:C26801"^^xsd:string) AnnotationAssertion( "intestinal diseases"^^xsd:string) AnnotationAssertion( "Lundehund syndrome"^^xsd:string) AnnotationAssertion( "small intestine enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5295"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal disease"^^xsd:string) SubClassOf( ) # Class: (liver leiomyosarcoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=46027"^^xsd:string) "A leiomyosarcoma and sarcoma of liver that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5756"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5296"^^xsd:string) AnnotationAssertion(rdfs:label "liver leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum leiomyosarcoma) AnnotationAssertion(Annotation( "http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm"^^xsd:string) "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5549"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5297"^^xsd:string) AnnotationAssertion(rdfs:label "rectum leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24817975"^^xsd:string) "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000231"^^xsd:string) AnnotationAssertion( "NCI:C8028"^^xsd:string) AnnotationAssertion( "clear cell carcinoma of endometrium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5299"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary gland disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pituitary_disease"^^xsd:string) "An endocrine system disease that is located_in the pituitary gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009607"^^xsd:string) AnnotationAssertion( "ICD9CM:253.1"^^xsd:string) AnnotationAssertion( "MESH:D010900"^^xsd:string) AnnotationAssertion( "Adenohypophyseal Disease"^^xsd:string) AnnotationAssertion( "Anterior Pituitary Disease"^^xsd:string) AnnotationAssertion( "Hypophyseal Disorder"^^xsd:string) AnnotationAssertion( "Neurohypophyseal Disease"^^xsd:string) AnnotationAssertion( "Neurohypophyseal Diseases"^^xsd:string) AnnotationAssertion( "Pituitary Disease"^^xsd:string) AnnotationAssertion( "Pituitary Diseases"^^xsd:string) AnnotationAssertion( "Pituitary Disorder"^^xsd:string) AnnotationAssertion( "Pituitary Disorders"^^xsd:string) AnnotationAssertion( "adenohypophyseal diseases"^^xsd:string) AnnotationAssertion( "anterior pituitary diseases"^^xsd:string) AnnotationAssertion( "hypophyseal disorders"^^xsd:string) AnnotationAssertion( "pituitary gland diseases"^^xsd:string) AnnotationAssertion( "pituitary gland disorder"^^xsd:string) AnnotationAssertion( "posterior pituitary disease"^^xsd:string) AnnotationAssertion( "posterior pituitary diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:53"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary gland disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eyelid disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit"^^xsd:string) "An adnexa disease that is located_in the eyelid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009547"^^xsd:string) AnnotationAssertion( "ICD10CM:H02.9"^^xsd:string) AnnotationAssertion( "ICD9CM:374.9"^^xsd:string) AnnotationAssertion( "MESH:D005141"^^xsd:string) AnnotationAssertion( "NCI:C26768"^^xsd:string) AnnotationAssertion( "eyelid diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:530"^^xsd:string) AnnotationAssertion(rdfs:label "eyelid disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/criog/2015/183243/"^^xsd:string) "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6280"^^xsd:string) AnnotationAssertion( "clear cell carcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5301"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine ligament clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26699941"^^xsd:string) "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40139"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5302"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23849091"^^xsd:string) "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000163"^^xsd:string) AnnotationAssertion( "NCI:C6344"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6344"^^xsd:string) "clear cell carcinoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5303"^^xsd:string) AnnotationAssertion(rdfs:label "cervical clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25398420"^^xsd:string) "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000042"^^xsd:string) AnnotationAssertion( "NCI:C40078"^^xsd:string) AnnotationAssertion( "ORDO:398971"^^xsd:string) AnnotationAssertion( "clear cell adenocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "clear cell adenocarcinoma of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5304"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/"^^xsd:string) "A clear cell adenocarcinoma that is located_in the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6179"^^xsd:string) AnnotationAssertion( "bladder Mesonephric adenocarcinoma"^^xsd:string) AnnotationAssertion( "clear cell adenocarcinoma of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5306"^^xsd:string) AnnotationAssertion(rdfs:label "bladder clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethra clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25685552"^^xsd:string) "A clear cell adenocarcinoma that is located_in the urethra. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6172"^^xsd:string) AnnotationAssertion( "RDO:9004426"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6172"^^xsd:string) "Clear cell adenocarcinoma of the urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5307"^^xsd:string) AnnotationAssertion(rdfs:label "urethra clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater clear cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27414"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5308"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelial-myoepithelial carcinoma) AnnotationAssertion( "ICDO:8562/3"^^xsd:string) AnnotationAssertion( "NCI:C4199"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5309"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial-myoepithelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (glycogen-rich clear cell breast carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/glycogencabr/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24400866"^^xsd:string) "A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40368"^^xsd:string) AnnotationAssertion( "glycogen-rich carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5310"^^xsd:string) AnnotationAssertion(rdfs:label "glycogen-rich clear cell breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (vulvar alveolar soft part sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7060986"^^xsd:string) "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40320"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5313"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar alveolar soft part sarcoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube germ cell cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10202679"^^xsd:string) "A fallopian tube cancer that derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40130"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "fallopian tube germ cell neoplasm"^^xsd:string) AnnotationAssertion( "DOID:5324"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Roberts syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/roberts-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20101700"^^xsd:string) "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050536"^^xsd:string) AnnotationAssertion( "MIM:268300"^^xsd:string) AnnotationAssertion( "ESCO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7387"^^xsd:string) AnnotationAssertion( "MESH:C535687"^^xsd:string) AnnotationAssertion( "NCI:C126326"^^xsd:string) AnnotationAssertion( "NCI:C4681"^^xsd:string) AnnotationAssertion( "ORDO:3103"^^xsd:string) AnnotationAssertion( "Appelt-Gerken-Lenz syndrome"^^xsd:string) AnnotationAssertion( "RBS"^^xsd:string) AnnotationAssertion( "Roberts-SC phocomelia syndrome"^^xsd:string) AnnotationAssertion( "SC phocomelia syndrome"^^xsd:string) AnnotationAssertion( "SC pseudothalidomide syndrome"^^xsd:string) AnnotationAssertion( "SC syndrome"^^xsd:string) AnnotationAssertion( "hypomelia hypotrichosis facial hemangioma syndrome"^^xsd:string) AnnotationAssertion( "long bone deficiencies associated with cleft lip-palate"^^xsd:string) AnnotationAssertion( "pseudothalidomide syndrome"^^xsd:string) AnnotationAssertion( "tetraphocomelia-cleft palate syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5325"^^xsd:string) AnnotationAssertion(rdfs:comment "GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome, not a distinct disease (DO)"^^xsd:string) AnnotationAssertion(rdfs:label "Roberts syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal detachment) AnnotationAssertion(Annotation( "MESH:D012163"^^xsd:string) "Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12)."^^xsd:string) AnnotationAssertion( "MIM:180050"^^xsd:string) AnnotationAssertion( "EFO:0005773"^^xsd:string) AnnotationAssertion( "ICD10CM:H33.2"^^xsd:string) AnnotationAssertion( "ICD9CM:361.9"^^xsd:string) AnnotationAssertion( "MESH:D012163"^^xsd:string) AnnotationAssertion( "NCI:C26874"^^xsd:string) AnnotationAssertion( "Retinal Detachments"^^xsd:string) AnnotationAssertion( "Retinal Pigment Epithelial Detachment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5327"^^xsd:string) AnnotationAssertion(rdfs:label "retinal detachment"^^xsd:string) SubClassOf( ) # Class: (thymus gland disease) AnnotationAssertion( "disease of thymus gland"^^xsd:string) AnnotationAssertion( "ICD10CM:E32"^^xsd:string) AnnotationAssertion( "ICD9CM:254"^^xsd:string) AnnotationAssertion( "NCI:C26962"^^xsd:string) AnnotationAssertion( "disease of thymus gland"^^xsd:string) AnnotationAssertion( "thymus gland disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:533"^^xsd:string) AnnotationAssertion(rdfs:label "thymus gland disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental pulp disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pulp_%28tooth%29"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530"^^xsd:string) "A tooth disease located_in dental pulp. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009540"^^xsd:string) AnnotationAssertion( "MESH:D003788"^^xsd:string) AnnotationAssertion( "NCI:C34530"^^xsd:string) AnnotationAssertion( "dental pulp diseases"^^xsd:string) AnnotationAssertion( "dental pulp disorder"^^xsd:string) AnnotationAssertion( "disorder of pulp of tooth"^^xsd:string) AnnotationAssertion( "pulp disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5330"^^xsd:string) AnnotationAssertion(rdfs:label "dental pulp disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular granulosa cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000567"^^xsd:string) AnnotationAssertion( "NCI:C6357"^^xsd:string) AnnotationAssertion( "granulosa cell tumor of testis"^^xsd:string) AnnotationAssertion( "granulosa cell tumour of testis"^^xsd:string) AnnotationAssertion( "testicular granulosa cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5331"^^xsd:string) AnnotationAssertion(rdfs:label "testicular granulosa cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (paraphimosis) AnnotationAssertion(Annotation( "MESH:D010263"^^xsd:string) "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis."^^xsd:string) AnnotationAssertion( "EFO:1001086"^^xsd:string) AnnotationAssertion( "ICD10CM:N47.2"^^xsd:string) AnnotationAssertion( "MESH:D010263"^^xsd:string) AnnotationAssertion( "NCI:C34893"^^xsd:string) AnnotationAssertion( "paraphimoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5334"^^xsd:string) AnnotationAssertion(rdfs:label "paraphimosis"^^xsd:string) SubClassOf( ) # Class: (epulis) AnnotationAssertion( "NCI:C3948"^^xsd:string) AnnotationAssertion( "epulides"^^xsd:string) AnnotationAssertion( "gingival polyp"^^xsd:string) AnnotationAssertion( "polyp of gum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5337"^^xsd:string) AnnotationAssertion(rdfs:label "epulis"^^xsd:string) SubClassOf( ) # Class: (gingival hypertrophy) AnnotationAssertion(Annotation( "MESH:D005886"^^xsd:string) "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells."^^xsd:string) AnnotationAssertion( "MESH:D005886"^^xsd:string) AnnotationAssertion( "Gingival Hypertrophies"^^xsd:string) AnnotationAssertion( "hypertrophy of gingivae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5338"^^xsd:string) AnnotationAssertion(rdfs:label "gingival hypertrophy"^^xsd:string) SubClassOf( ) # Class: (cyclic hematopoiesis) AnnotationAssertion( "A rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:162800"^^xsd:string) AnnotationAssertion( "OMIA:000248"^^xsd:string) AnnotationAssertion( "ELANE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:6229"^^xsd:string) AnnotationAssertion( "ICD10CM:D70.4"^^xsd:string) AnnotationAssertion( "ICD9CM:288.02"^^xsd:string) AnnotationAssertion( "MESH:C536227"^^xsd:string) AnnotationAssertion( "NCI:C3820"^^xsd:string) AnnotationAssertion( "ORDO:2686"^^xsd:string) AnnotationAssertion( "cyclic agranulocytosis"^^xsd:string) AnnotationAssertion( "cyclic leucopenia"^^xsd:string) AnnotationAssertion( "cyclic neutropenia"^^xsd:string) AnnotationAssertion( "cyclical neutropenia"^^xsd:string) AnnotationAssertion( "periodic neutropenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5339"^^xsd:string) AnnotationAssertion(rdfs:label "cyclic hematopoiesis"^^xsd:string) SubClassOf( ) # Class: (anterograde amnesia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amnesia"^^xsd:string) "An amnestic disorder that involves the impaired or lost ability to memorize new things. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R41.1"^^xsd:string) AnnotationAssertion( "MESH:D020324"^^xsd:string) AnnotationAssertion( "Anterograde Amnesias"^^xsd:string) AnnotationAssertion( "Anterograde Memory Loss"^^xsd:string) AnnotationAssertion( "Post-Ictal Amnesia"^^xsd:string) AnnotationAssertion( "Post-Ictal Amnesias"^^xsd:string) AnnotationAssertion( "post-ictal memory loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5340"^^xsd:string) AnnotationAssertion(rdfs:label "anterograde amnesia"^^xsd:string) SubClassOf( ) # Class: (pineal region yolk sac tumor) AnnotationAssertion( "NCI:C6752"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6752"^^xsd:string) "Pineal Region Yolk Sac neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5341"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (childhood endodermal sinus tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string) "An endodermal sinus tumor that occurs in children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27364"^^xsd:string) AnnotationAssertion( "RDO:9004278"^^xsd:string) AnnotationAssertion( "childhood endodermal sinus neoplasm"^^xsd:string) AnnotationAssertion( "childhood endodermal sinus tumour"^^xsd:string) AnnotationAssertion( "paediatric Yolk Sac tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pediatric Yolk Sac tumor"^^xsd:string) AnnotationAssertion( "DOID:5342"^^xsd:string) AnnotationAssertion(rdfs:label "childhood endodermal sinus tumor"^^xsd:string) SubClassOf( ) # Class: (central nervous system endodermal sinus tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6209"^^xsd:string) AnnotationAssertion( "NCI:C7011"^^xsd:string) AnnotationAssertion( "central nervous system endodermal sinus tumour"^^xsd:string) AnnotationAssertion( "childhood central nervous system endodermal sinus neoplasm"^^xsd:string) AnnotationAssertion( "paediatric central nervous system Yolk Sac tumour"^^xsd:string) AnnotationAssertion( "pediatric central nervous system yolk sac tumor"^^xsd:string) AnnotationAssertion( "yolk sac tumor of the CNS"^^xsd:string) AnnotationAssertion( "yolk sac tumour of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5343"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system endodermal sinus tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular yolk sac tumor) AnnotationAssertion( "EFO:1000574"^^xsd:string) AnnotationAssertion( "GARD:348"^^xsd:string) AnnotationAssertion( "NCI:C8000"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8000"^^xsd:string) "testicular Yolk Sac neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5344"^^xsd:string) AnnotationAssertion(rdfs:label "testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (testicular non-seminomatous germ cell cancer) AnnotationAssertion( "NCI:C5027"^^xsd:string) AnnotationAssertion( "malignant non-seminomatous germ cell tumor of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5345"^^xsd:string) AnnotationAssertion(rdfs:label "testicular non-seminomatous germ cell cancer"^^xsd:string) SubClassOf( ) # Class: (adult endodermal sinus tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string) "An endodermal sinus tumor that occurs in adults. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27241"^^xsd:string) AnnotationAssertion( "RDO:9004280"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27241"^^xsd:string) "adult Yolk Sac neoplasm"^^xsd:string) AnnotationAssertion( "adult endodermal sinus neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5348"^^xsd:string) AnnotationAssertion(rdfs:label "adult endodermal sinus tumor"^^xsd:string) SubClassOf( ) # Class: (central nervous system adult germ cell tumor) AnnotationAssertion( "NCI:C6285"^^xsd:string) AnnotationAssertion( "central nervous system adult germ cell tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6285"^^xsd:string) "germ cell tumor of the adult CNS"^^xsd:string) AnnotationAssertion( "germ cell tumour of the adult CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5349"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system adult germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (sleep disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sleep_disorder"^^xsd:string) "A disease of mental health that involves disruption of sleep patterns. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008568"^^xsd:string) AnnotationAssertion( "ICD9CM:307.4"^^xsd:string) AnnotationAssertion( "MESH:D012893"^^xsd:string) AnnotationAssertion( "Sleep Disorders"^^xsd:string) AnnotationAssertion( "Sleep Related Neurogenic Tachypnea"^^xsd:string) AnnotationAssertion( "Sleep Wake Disorder"^^xsd:string) AnnotationAssertion( "Sleep Wake Disorders"^^xsd:string) AnnotationAssertion( "Sleep-Related Neurogenic Tachypneas"^^xsd:string) AnnotationAssertion( "long sleeper syndrome"^^xsd:string) AnnotationAssertion( "non-organic sleep disorder"^^xsd:string) AnnotationAssertion( "subwakefullness syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SLEEP DISTURBANCE"^^xsd:string) AnnotationAssertion( "DOID:535"^^xsd:string) AnnotationAssertion(rdfs:label "sleep disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian endodermal sinus tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endodermal_sinus_tumor"^^xsd:string) "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000437"^^xsd:string) AnnotationAssertion( "NCI:C8107"^^xsd:string) AnnotationAssertion( "RDO:9005068"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254876005"^^xsd:string) "Endodermal sinus tumor of ovary"^^xsd:string) AnnotationAssertion( "Endodermal sinus tumour of ovary"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8107"^^xsd:string) "Ovarian Yolk Sac tumor"^^xsd:string) AnnotationAssertion( "Ovarian Yolk Sac tumour"^^xsd:string) AnnotationAssertion( "ovarian endodermal sinus tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5350"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endodermal sinus tumor"^^xsd:string) SubClassOf( ) # Class: (ovarian primitive germ cell tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24576031"^^xsd:string) "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003408"^^xsd:string) AnnotationAssertion( "NCI:C39986"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5351"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian primitive germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (colonic disease) AnnotationAssertion(Annotation( "https://www.nature.com/subjects/colonic-diseases"^^xsd:string) "A intestinal disease located in the colon. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000183"^^xsd:string) AnnotationAssertion( "MESH:D003108"^^xsd:string) AnnotationAssertion( "colon disorder"^^xsd:string) AnnotationAssertion( "colonic diseases"^^xsd:string) AnnotationAssertion( "Colon Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5353"^^xsd:string) AnnotationAssertion(rdfs:label "colonic disease"^^xsd:string) SubClassOf( ) # Class: (focal epithelial hyperplasia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Heck%27s_disease"^^xsd:string) "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565008"^^xsd:string) AnnotationAssertion( "MIM:136400"^^xsd:string) AnnotationAssertion( "MIM:229045"^^xsd:string) AnnotationAssertion( "EFO:0007275"^^xsd:string) AnnotationAssertion( "MESH:D017573"^^xsd:string) AnnotationAssertion( "NCI:C97083"^^xsd:string) AnnotationAssertion( "Focal Epithelial Hyperplasias"^^xsd:string) AnnotationAssertion( "Heck Disease"^^xsd:string) AnnotationAssertion( "Heck's disease"^^xsd:string) AnnotationAssertion( "Hecks disease"^^xsd:string) AnnotationAssertion( "focal epithelial hyperplasia of the oral mucosa"^^xsd:string) AnnotationAssertion( "focal epithelial hyperplasia, oral"^^xsd:string) AnnotationAssertion( "multifocal epithelial hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5362"^^xsd:string) AnnotationAssertion(rdfs:label "focal epithelial hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myxoid liposarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8913727"^^xsd:string) "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613488"^^xsd:string) AnnotationAssertion( "EFO:0000613"^^xsd:string) AnnotationAssertion( "GARD:7157"^^xsd:string) AnnotationAssertion( "ICDO:8852/3"^^xsd:string) AnnotationAssertion( "MESH:D018208"^^xsd:string) AnnotationAssertion( "ORDO:99967"^^xsd:string) AnnotationAssertion( "myxoid liposarcomas"^^xsd:string) AnnotationAssertion( "myxoid/round cell liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5363"^^xsd:string) AnnotationAssertion(rdfs:label "myxoid liposarcoma"^^xsd:string) SubClassOf( ) # Class: (pulmonary coin lesion) AnnotationAssertion(Annotation( "MESH:D003074"^^xsd:string) "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA."^^xsd:string) AnnotationAssertion( "EFO:1001133"^^xsd:string) AnnotationAssertion( "ICD10CM:R91.1"^^xsd:string) AnnotationAssertion( "MESH:D003074"^^xsd:string) AnnotationAssertion( "RDO:0005231"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:793.1"^^xsd:string) "Coin lesion lung"^^xsd:string) AnnotationAssertion( "Coin lesion of lung"^^xsd:string) AnnotationAssertion( "Pulmonary Coin Lesions"^^xsd:string) AnnotationAssertion( "Solitary Pulmonary Nodule"^^xsd:string) AnnotationAssertion( "Solitary Pulmonary Nodules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5364"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary coin lesion"^^xsd:string) SubClassOf( ) # Class: (Wolffian duct adenocarcinoma) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/"^^xsd:string) "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40254"^^xsd:string) AnnotationAssertion( "cervical mesonephric adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5368"^^xsd:string) AnnotationAssertion(rdfs:label "Wolffian duct adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast hemangiopericytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25688313/"^^xsd:string) "A hemangiopericytoma that is manifested in the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40396"^^xsd:string) AnnotationAssertion( "hemangiopericytoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5370"^^xsd:string) AnnotationAssertion(rdfs:label "breast hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retroperitoneal hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5386"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5373"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pilomatrixoma) AnnotationAssertion(Annotation( "MESH:D018296"^^xsd:string) "A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)"^^xsd:string) AnnotationAssertion( "MIM:132600"^^xsd:string) AnnotationAssertion( "EFO:0009082"^^xsd:string) AnnotationAssertion( "GARD:9452"^^xsd:string) AnnotationAssertion( "MESH:D018296"^^xsd:string) AnnotationAssertion( "NCI:C7368"^^xsd:string) AnnotationAssertion( "Calcifying Epithelioma of Malherbe"^^xsd:string) AnnotationAssertion( "Epithelioma Calcificans Of Malherbe"^^xsd:string) AnnotationAssertion( "Malherbe calcifying epithelioma"^^xsd:string) AnnotationAssertion( "PTR"^^xsd:string) AnnotationAssertion( "benign pilomatricoma"^^xsd:string) AnnotationAssertion( "benign pilomatrixoma"^^xsd:string) AnnotationAssertion( "pilomatricoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5374"^^xsd:string) AnnotationAssertion(rdfs:label "pilomatrixoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hair follicle neoplasm) AnnotationAssertion( "An uncontrolled autonomous cell-proliferation originating in a hair follicle. (HPO)"^^xsd:string) AnnotationAssertion( "NCI:C7367"^^xsd:string) AnnotationAssertion( "hair matrix neoplasm"^^xsd:string) AnnotationAssertion( "hair matrix tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5375"^^xsd:string) AnnotationAssertion(rdfs:label "hair follicle neoplasm"^^xsd:string) SubClassOf( ) # Class: (skin pilomatrix carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4114"^^xsd:string) AnnotationAssertion( "malignant pilomatricoma"^^xsd:string) AnnotationAssertion( "pilomatrix carcinoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5376"^^xsd:string) AnnotationAssertion(rdfs:label "skin pilomatrix carcinoma"^^xsd:string) SubClassOf( ) # Class: (hemoglobin D disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D58.2"^^xsd:string) AnnotationAssertion( "NCI:C35344"^^xsd:string) AnnotationAssertion( "Hb-D disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN D (GRANADA)"^^xsd:string) AnnotationAssertion( "DOID:5378"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobin D disease"^^xsd:string) SubClassOf( ) # Class: (hemoglobin E disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004523"^^xsd:string) AnnotationAssertion( "GARD:2641"^^xsd:string) AnnotationAssertion( "MONDO:0016243"^^xsd:string) AnnotationAssertion( "NCI:C35287"^^xsd:string) AnnotationAssertion( "Hb-E disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5379"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobin E disease"^^xsd:string) SubClassOf( ) # Class: (internuclear ophthalmoplegia) AnnotationAssertion( "ICD10CM:H51.2"^^xsd:string) AnnotationAssertion( "ICD9CM:378.86"^^xsd:string) AnnotationAssertion( "internuclear ophthalmoplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:538"^^xsd:string) AnnotationAssertion(rdfs:label "internuclear ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct adenoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma"^^xsd:string) "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000123"^^xsd:string) AnnotationAssertion( "ICDO:8160/0"^^xsd:string) AnnotationAssertion( "MESH:D002759"^^xsd:string) AnnotationAssertion( "NCI:C2942"^^xsd:string) AnnotationAssertion( "Bile Duct Adenomas"^^xsd:string) AnnotationAssertion( "Cholangioma"^^xsd:string) AnnotationAssertion( "Cholangiomas"^^xsd:string) AnnotationAssertion( "cholangioadenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5381"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18152506"^^xsd:string) "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40299"^^xsd:string) AnnotationAssertion( "Bartholin gland adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5382"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct cystadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/"^^xsd:string) "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8161/0"^^xsd:string) AnnotationAssertion( "MONDO:0003420"^^xsd:string) AnnotationAssertion( "NCI:C4129"^^xsd:string) AnnotationAssertion( "cystadenoma of the bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5384"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed cell adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25002356"^^xsd:string) "An adenoma that has_material_basis_in more than one cell type. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8323/0"^^xsd:string) AnnotationAssertion( "NCI:C4157"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5385"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cell adenoma"^^xsd:string) SubClassOf( ) # Class: (lung adenoma) AnnotationAssertion(Annotation( "https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging"^^xsd:string) "A lung benign neoplasm that derives_from glandular epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4455"^^xsd:string) AnnotationAssertion( "adenoma of lung"^^xsd:string) AnnotationAssertion( "pulmonary adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5386"^^xsd:string) AnnotationAssertion(rdfs:label "lung adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25741045"^^xsd:string) "A sensory organ benign neoplasm that is located_in the middle ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6834"^^xsd:string) AnnotationAssertion( "adenoma of middle ear"^^xsd:string) AnnotationAssertion( "adenoma of the middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5387"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (oxyphilic adenoma) AnnotationAssertion(Annotation( "MESH:D018249"^^xsd:string) "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells."^^xsd:string) AnnotationAssertion( "EFO:1001079"^^xsd:string) AnnotationAssertion( "MESH:D018249"^^xsd:string) AnnotationAssertion( "NCI:C3759"^^xsd:string) AnnotationAssertion( "Huerthle cell tumor"^^xsd:string) AnnotationAssertion( "Hurthle Cell Tumor"^^xsd:string) AnnotationAssertion( "follicular adenoma, oxyphilic cell"^^xsd:string) AnnotationAssertion( "oncocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5389"^^xsd:string) AnnotationAssertion(rdfs:label "oxyphilic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ophthalmoplegia) AnnotationAssertion(Annotation( "MESH:D009886"^^xsd:string) "Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles."^^xsd:string) AnnotationAssertion( "ICD9CM:378.56"^^xsd:string) AnnotationAssertion( "MESH:D009886"^^xsd:string) AnnotationAssertion( "NCI:C79697"^^xsd:string) AnnotationAssertion( "External Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "Internal Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "Internal Ophthalmoplegias"^^xsd:string) AnnotationAssertion( "Oculomotor Paralysis"^^xsd:string) AnnotationAssertion( "Ophthalmopareses"^^xsd:string) AnnotationAssertion( "Ophthalmoparesis"^^xsd:string) AnnotationAssertion( "Ophthalmoplegias"^^xsd:string) AnnotationAssertion( "external ophthalmoplegias"^^xsd:string) AnnotationAssertion( "extraocular muscle paralysis"^^xsd:string) AnnotationAssertion( "eye movement paralysis"^^xsd:string) AnnotationAssertion( "total ophthalmoplegia"^^xsd:string) AnnotationAssertion( "OPHTHALMOPLEGIA, ISOLATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:539"^^xsd:string) AnnotationAssertion(rdfs:label "ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (clear cell adenoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151"^^xsd:string) "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000136"^^xsd:string) AnnotationAssertion( "ICDO:8310/0"^^xsd:string) AnnotationAssertion( "NCI:C4151"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Clear Cell Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5390"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bronchus adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3494"^^xsd:string) AnnotationAssertion( "adenoma of the bronchus"^^xsd:string) AnnotationAssertion( "bronchial adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5391"^^xsd:string) AnnotationAssertion(rdfs:label "bronchus adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acidophil adenoma) AnnotationAssertion(Annotation( "MESH:D000239"^^xsd:string) "A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000791"^^xsd:string) AnnotationAssertion( "ICDO:8280/0"^^xsd:string) AnnotationAssertion( "MESH:D000239"^^xsd:string) AnnotationAssertion( "NCI:C6780"^^xsd:string) AnnotationAssertion( "Acidophilic Adenoma"^^xsd:string) AnnotationAssertion( "Acidophilic Adenomas"^^xsd:string) AnnotationAssertion( "Eosinophil Adenoma"^^xsd:string) AnnotationAssertion( "Eosinophil Adenomas"^^xsd:string) AnnotationAssertion( "Eosinophilic Adenoma"^^xsd:string) AnnotationAssertion( "acidophil adenomas"^^xsd:string) AnnotationAssertion( "eosinophilic adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5392"^^xsd:string) AnnotationAssertion(rdfs:label "acidophil adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain angioma) AnnotationAssertion( "NCI:C7739"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5393"^^xsd:string) AnnotationAssertion(rdfs:label "brain angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (prolactinoma) AnnotationAssertion(Annotation( "MESH:D015175"^^xsd:string) "A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA."^^xsd:string) AnnotationAssertion( "EFO:1000496"^^xsd:string) AnnotationAssertion( "GARD:4508"^^xsd:string) AnnotationAssertion( "MESH:D015175"^^xsd:string) AnnotationAssertion( "NCI:C3342"^^xsd:string) AnnotationAssertion( "Macroprolactinoma"^^xsd:string) AnnotationAssertion( "Microprolactinoma"^^xsd:string) AnnotationAssertion( "PRL Secreting Pituitary Adenoma"^^xsd:string) AnnotationAssertion( "PRL-Secreting Pituitary Adenomas"^^xsd:string) AnnotationAssertion( "Prolactinoma, Familial"^^xsd:string) AnnotationAssertion( "lactotroph adenoma"^^xsd:string) AnnotationAssertion( "lactotroph adenomas"^^xsd:string) AnnotationAssertion( "macroprolactinomas"^^xsd:string) AnnotationAssertion( "microprolactinomas"^^xsd:string) AnnotationAssertion( "prolactin secreting pituitary adenoma"^^xsd:string) AnnotationAssertion( "prolactin-producing pituitary adenoma"^^xsd:string) AnnotationAssertion( "prolactin-producing pituitary adenomas"^^xsd:string) AnnotationAssertion( "prolactinoma of pituitary gland"^^xsd:string) AnnotationAssertion( "prolactinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5394"^^xsd:string) AnnotationAssertion(rdfs:label "prolactinoma"^^xsd:string) SubClassOf( ) # Class: (functioning pituitary adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000383"^^xsd:string) AnnotationAssertion( "NCI:C8388"^^xsd:string) AnnotationAssertion( "secretory adenoma of the pituitary gland"^^xsd:string) AnnotationAssertion( "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5395"^^xsd:string) AnnotationAssertion(rdfs:label "functioning pituitary adenoma"^^xsd:string) SubClassOf( ) # Class: (prolactin producing pituitary tumor) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910"^^xsd:string) "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000497"^^xsd:string) AnnotationAssertion( "NCI:C5962"^^xsd:string) AnnotationAssertion( "Prolactin Secreting tumour of Pituitary"^^xsd:string) AnnotationAssertion( "Prolactin-Producing Pituitary Gland Carcinoma"^^xsd:string) AnnotationAssertion( "malignant Prolactinoma"^^xsd:string) AnnotationAssertion( "malignant prolactin producing neoplasm of pituitary gland"^^xsd:string) AnnotationAssertion( "prolactin producing pituitary tumour"^^xsd:string) AnnotationAssertion( "prolactin secreting tumor of pituitary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5396"^^xsd:string) AnnotationAssertion(rdfs:label "prolactin producing pituitary tumor"^^xsd:string) SubClassOf( ) # Class: (lipoadenoma) AnnotationAssertion(Annotation( "http://en.wiktionary.org/wiki/lipoadenoma"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159"^^xsd:string) "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8324/0"^^xsd:string) AnnotationAssertion( "NCI:C4159"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5398"^^xsd:string) AnnotationAssertion(rdfs:label "lipoadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (strabismus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Strabismus"^^xsd:string) "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. (DO)"^^xsd:string) AnnotationAssertion( "MIM:185100"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.8"^^xsd:string) AnnotationAssertion( "ICD9CM:378.7"^^xsd:string) AnnotationAssertion( "MESH:D013285"^^xsd:string) AnnotationAssertion( "Comitant Strabismus"^^xsd:string) AnnotationAssertion( "Convergent Comitant Strabismus"^^xsd:string) AnnotationAssertion( "Noncomitant Strabismus"^^xsd:string) AnnotationAssertion( "Phoria"^^xsd:string) AnnotationAssertion( "phorias"^^xsd:string) AnnotationAssertion( "squint"^^xsd:string) AnnotationAssertion( "CONGENITAL STRABISMUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "STBMS1"^^xsd:string) AnnotationAssertion( "strabismus, susceptibility to"^^xsd:string) AnnotationAssertion( "strabismus, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:540"^^xsd:string) AnnotationAssertion(rdfs:label "strabismus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (water-clear cell adenoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html"^^xsd:string) "An adenoma that derives_from epithelial cells which have clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8322/0"^^xsd:string) AnnotationAssertion( "NCI:C4155"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5401"^^xsd:string) AnnotationAssertion(rdfs:label "water-clear cell adenoma"^^xsd:string) SubClassOf( ) # Class: (vaginal adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5402"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microcystic adenoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15559952"^^xsd:string) "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8202/0"^^xsd:string) AnnotationAssertion( "NCI:C3685"^^xsd:string) AnnotationAssertion( "microcystic adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5403"^^xsd:string) AnnotationAssertion(rdfs:label "microcystic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paget's disease of bone) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone"^^xsd:string) Annotation( "http://orthoinfo.aaos.org/topic.cfm?topic=A00076"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37180975/"^^xsd:string) "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538098"^^xsd:string) AnnotationAssertion( "EFO:0004261"^^xsd:string) AnnotationAssertion( "GARD:8615"^^xsd:string) AnnotationAssertion( "ICD10CM:M88"^^xsd:string) AnnotationAssertion( "MESH:D010001"^^xsd:string) AnnotationAssertion( "MIM:PS167250"^^xsd:string) AnnotationAssertion( "NCI:C3292"^^xsd:string) AnnotationAssertion( "ORDO:280110"^^xsd:string) AnnotationAssertion( "Osseous Paget's Disease"^^xsd:string) AnnotationAssertion( "Osteitis Deformans"^^xsd:string) AnnotationAssertion( "Paget disease of bone"^^xsd:string) AnnotationAssertion( "Paget disease of bone, familial"^^xsd:string) AnnotationAssertion( "Paget disease, bone"^^xsd:string) AnnotationAssertion( "Paget's bone disease"^^xsd:string) AnnotationAssertion( "Pagets bone disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Paget disease of bone 1"^^xsd:string) AnnotationAssertion( "Paget disease of bone, type 1"^^xsd:string) AnnotationAssertion( "familial Paget's disease of bone"^^xsd:string) AnnotationAssertion( "DOID:5408"^^xsd:string) AnnotationAssertion(rdfs:label "Paget's disease of bone"^^xsd:string) SubClassOf( ) # Class: (lung small cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Small-cell_carcinoma"^^xsd:string) "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0050875"^^xsd:string) AnnotationAssertion( "EFO:0000702"^^xsd:string) AnnotationAssertion( "MESH:D055752"^^xsd:string) AnnotationAssertion( "NCI:C188988"^^xsd:string) AnnotationAssertion( "NCI:C4917"^^xsd:string) AnnotationAssertion( "oat cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "oat cell lung cancer"^^xsd:string) AnnotationAssertion( "small cell cancer of the lung"^^xsd:string) AnnotationAssertion( "small cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "small cell lung cancer"^^xsd:string) AnnotationAssertion( "small cell neuroendocrine carcinoma"^^xsd:string) AnnotationAssertion( "small cell neuroendocrine carcinoma of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5409"^^xsd:string) AnnotationAssertion(rdfs:label "lung small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary neuroendocrine tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005220"^^xsd:string) AnnotationAssertion( "NCI:C5670"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5410"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary neuroendocrine tumor"^^xsd:string) SubClassOf( ) # Class: (lung oat cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3915"^^xsd:string) AnnotationAssertion( "poorly differentiated endocrine neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5411"^^xsd:string) AnnotationAssertion(rdfs:label "lung oat cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung occult small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6683"^^xsd:string) AnnotationAssertion( "occult small cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "occult small cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5414"^^xsd:string) AnnotationAssertion(rdfs:label "lung occult small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (schizoaffective disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schizoaffective_disorder"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm"^^xsd:string) "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003378"^^xsd:string) AnnotationAssertion( "EFO:0005411"^^xsd:string) AnnotationAssertion( "ICD10CM:F25"^^xsd:string) AnnotationAssertion( "ICD9CM:295.7"^^xsd:string) AnnotationAssertion( "NCI:C94378"^^xsd:string) AnnotationAssertion( "schizoaffective disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5418"^^xsd:string) AnnotationAssertion(rdfs:label "schizoaffective disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schizophrenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Schizophrenia"^^xsd:string) "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000692"^^xsd:string) AnnotationAssertion( "ICD10CM:F20"^^xsd:string) AnnotationAssertion( "ICD9CM:295"^^xsd:string) AnnotationAssertion( "MESH:D012559"^^xsd:string) AnnotationAssertion( "MIM:181500"^^xsd:string) AnnotationAssertion( "MONDO:0005090"^^xsd:string) AnnotationAssertion( "NCI:C3362"^^xsd:string) AnnotationAssertion( "ORDO:3140"^^xsd:string) AnnotationAssertion( "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED"^^xsd:string) AnnotationAssertion( "SCZD"^^xsd:string) AnnotationAssertion( "dementia praecox"^^xsd:string) AnnotationAssertion( "schizophrenia with or without an affective disorder"^^xsd:string) AnnotationAssertion( "schizophrenia-1"^^xsd:string) AnnotationAssertion( "schizophrenias"^^xsd:string) AnnotationAssertion( "schizophrenic disorder"^^xsd:string) AnnotationAssertion( "schizophrenic disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM"^^xsd:string) AnnotationAssertion( "Schizophrenia, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:5419"^^xsd:string) AnnotationAssertion(rdfs:label "schizophrenia"^^xsd:string) SubClassOf( ) # Class: (lung combined type small cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma"^^xsd:string) "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9137"^^xsd:string) AnnotationAssertion( "combined small cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "combined type small cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5421"^^xsd:string) AnnotationAssertion(rdfs:label "lung combined type small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (ovarian hyperstimulation syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/"^^xsd:string) "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology. (DO)"^^xsd:string) AnnotationAssertion( "MIM:276400"^^xsd:string) AnnotationAssertion( "MIM:608115"^^xsd:string) AnnotationAssertion( "MESH:D016471"^^xsd:string) AnnotationAssertion( "OHSS"^^xsd:string) AnnotationAssertion( "Ovarian Hyperstimulation Syndromes"^^xsd:string) AnnotationAssertion( "ovarian hyperstimulation syndrome, familial gestational spontaneous"^^xsd:string) AnnotationAssertion( "ovarian response to FSH stimulation"^^xsd:string) AnnotationAssertion( "secondary Meig's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5425"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian hyperstimulation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ovarian insufficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Premature_ovarian_failure"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27861765/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/"^^xsd:string) "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004266"^^xsd:string) AnnotationAssertion( "ICD10CM:E28.3"^^xsd:string) AnnotationAssertion( "MESH:D016649"^^xsd:string) AnnotationAssertion( "MIM:PS311360"^^xsd:string) AnnotationAssertion( "NCI:C113352"^^xsd:string) AnnotationAssertion( "ORDO:619"^^xsd:string) AnnotationAssertion( "POF"^^xsd:string) AnnotationAssertion( "gonadotropin resistant ovary syndrome"^^xsd:string) AnnotationAssertion( "premature ovarian failure"^^xsd:string) AnnotationAssertion( "premature ovarian insufficiency"^^xsd:string) AnnotationAssertion( "resistant ovary syndrome"^^xsd:string) AnnotationAssertion( "POFX"^^xsd:string) AnnotationAssertion( "X-linked hypergonadotropic ovarian failure"^^xsd:string) AnnotationAssertion( "X-linked premature ovarian failure"^^xsd:string) AnnotationAssertion( "fragile X associated primary ovarian insufficiency"^^xsd:string) AnnotationAssertion( "fragile X premature ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5426"^^xsd:string) AnnotationAssertion(rdfs:label "primary ovarian insufficiency"^^xsd:string) SubClassOf( ) # Class: (urinary bladder villous adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7414"^^xsd:string) AnnotationAssertion( "villous adenoma of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5427"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder villous adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder flat intraepithelial lesion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000126"^^xsd:string) AnnotationAssertion( "NCI:C37266"^^xsd:string) AnnotationAssertion( "RDO:9005053"^^xsd:string) AnnotationAssertion( "flat intraepithelial lesion of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5429"^^xsd:string) AnnotationAssertion(rdfs:label "bladder flat intraepithelial lesion"^^xsd:string) SubClassOf( ) # Class: (dystonia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/dystonia/"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480"^^xsd:string) Annotation( "https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet"^^xsd:string) "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D020821"^^xsd:string) AnnotationAssertion( "ICD10CM:G24"^^xsd:string) AnnotationAssertion( "MESH:D004421"^^xsd:string) AnnotationAssertion( "MIM:PS128100"^^xsd:string) AnnotationAssertion( "MIM:PS128200"^^xsd:string) AnnotationAssertion( "NCI:C34563"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Familial Dystonia"^^xsd:string) AnnotationAssertion( "Childhood Onset Dystonia"^^xsd:string) AnnotationAssertion( "Dystonia Disorder"^^xsd:string) AnnotationAssertion( "Dystonic Disorder"^^xsd:string) AnnotationAssertion( "Dystonic Disorders"^^xsd:string) AnnotationAssertion( "Familial Dystonia"^^xsd:string) AnnotationAssertion( "Familial Dystonias"^^xsd:string) AnnotationAssertion( "Hereditary Dystonia"^^xsd:string) AnnotationAssertion( "Hereditary Dystonias"^^xsd:string) AnnotationAssertion( "Idiopathic Familial Dystonia"^^xsd:string) AnnotationAssertion( "Idiopathic Familial Dystonias"^^xsd:string) AnnotationAssertion( "Limb Dystonia"^^xsd:string) AnnotationAssertion( "Muscle Dystonia"^^xsd:string) AnnotationAssertion( "Primary Dystonia"^^xsd:string) AnnotationAssertion( "Primary Dystonias"^^xsd:string) AnnotationAssertion( "Pseudodystonia"^^xsd:string) AnnotationAssertion( "Pseudodystonias"^^xsd:string) AnnotationAssertion( "Psychogenic Dystonia"^^xsd:string) AnnotationAssertion( "Psychogenic Dystonias"^^xsd:string) AnnotationAssertion( "adult onset dystonias"^^xsd:string) AnnotationAssertion( "adult onset idiopathic focal dystonias"^^xsd:string) AnnotationAssertion( "adult onset idiopathic torsion dystonias"^^xsd:string) AnnotationAssertion( "adult-onset dystonia"^^xsd:string) AnnotationAssertion( "autosomal dominant familial dystonia"^^xsd:string) AnnotationAssertion( "childhood onset dystonias"^^xsd:string) AnnotationAssertion( "diurnal dystonia"^^xsd:string) AnnotationAssertion( "dystonia disorders"^^xsd:string) AnnotationAssertion( "dystonic disease"^^xsd:string) AnnotationAssertion( "paroxysmal dystonia"^^xsd:string) AnnotationAssertion( "secondary dystonia"^^xsd:string) AnnotationAssertion( "secondary dystonias"^^xsd:string) AnnotationAssertion( "sporadic dystonia"^^xsd:string) AnnotationAssertion( "sporadic dystonias"^^xsd:string) AnnotationAssertion( "writer cramp"^^xsd:string) AnnotationAssertion( "writer's cramp"^^xsd:string) AnnotationAssertion( "writers cramp"^^xsd:string) AnnotationAssertion( "TSPOAP1-RELATED DYSTONIA"^^xsd:string) AnnotationAssertion( "dystonia 1"^^xsd:string) AnnotationAssertion( "regression of motor development with severe dystonia and corresponding basal ganglia lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Dystonia 1, torsion, modifier of"^^xsd:string) AnnotationAssertion( "DOID:543"^^xsd:string) AnnotationAssertion(rdfs:label "dystonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder papillary transitional cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39857"^^xsd:string) AnnotationAssertion( "urinary bladder papillary urothelial neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5432"^^xsd:string) AnnotationAssertion(rdfs:label "bladder papillary transitional cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (urinary tract papillary transitional cell benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000611"^^xsd:string) AnnotationAssertion( "NCI:C27883"^^xsd:string) AnnotationAssertion( "NCI:C6192"^^xsd:string) AnnotationAssertion( "inverted papilloma of urinary tract"^^xsd:string) AnnotationAssertion( "papillary transitional cell neoplasm of the urinary tract"^^xsd:string) AnnotationAssertion( "urinary tract inverted papilloma"^^xsd:string) AnnotationAssertion( "Urothelial Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5433"^^xsd:string) AnnotationAssertion(rdfs:label "urinary tract papillary transitional cell benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (scrapie) AnnotationAssertion(Annotation( "MESH:D012608"^^xsd:string) "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS."^^xsd:string) AnnotationAssertion( "EFO:1001168"^^xsd:string) AnnotationAssertion( "MESH:D012608"^^xsd:string) AnnotationAssertion( "Rida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5434"^^xsd:string) AnnotationAssertion(rdfs:label "scrapie"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (variant Creutzfeldt-Jakob disease) AnnotationAssertion(Annotation( "MESH:D016643"^^xsd:string) "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)"^^xsd:string) AnnotationAssertion( "EFO:0004597"^^xsd:string) AnnotationAssertion( "EFO:1001233"^^xsd:string) AnnotationAssertion( "MESH:D016643"^^xsd:string) AnnotationAssertion( "BSE (Bovine Spongiform Encephalopathy)"^^xsd:string) AnnotationAssertion( "BSEs (Bovine Spongiform Encephalopathy)"^^xsd:string) AnnotationAssertion( "Bovine Spongiform Encephalitis"^^xsd:string) AnnotationAssertion( "Mad Cow Disease"^^xsd:string) AnnotationAssertion( "Mad Cow Diseases"^^xsd:string) AnnotationAssertion( "bovine spongiform encephalopathy"^^xsd:string) AnnotationAssertion( "variant CREUTZFELDT-JAKOB SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5435"^^xsd:string) AnnotationAssertion(rdfs:label "variant Creutzfeldt-Jakob disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic bile duct adenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26191317/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31149539/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/31798791/"^^xsd:string) "A bile duct adenoma located_in an intrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7126"^^xsd:string) AnnotationAssertion( "adenoma of intrahepatic bile duct"^^xsd:string) AnnotationAssertion( "adenoma of the intrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5437"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic bile duct adenoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic bile duct adenoma) AnnotationAssertion(Annotation( "http://www.joplink.net/prev/200803/08.html"^^xsd:string) "A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5857"^^xsd:string) AnnotationAssertion( "adenoma of extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "adenoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5438"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct adenoma"^^xsd:string) SubClassOf( ) # Class: (papillary hidradenoma) AnnotationAssertion( "ICDO:8405/0"^^xsd:string) AnnotationAssertion( "NCI:C4171"^^xsd:string) AnnotationAssertion( "MESH:D000074009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5439"^^xsd:string) AnnotationAssertion(rdfs:label "papillary hidradenoma"^^xsd:string) SubClassOf( ) # Class: (eccrine acrospiroma) AnnotationAssertion(Annotation( "MESH:D018250"^^xsd:string) "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors."^^xsd:string) AnnotationAssertion( "EFO:1000912"^^xsd:string) AnnotationAssertion( "MESH:D018250"^^xsd:string) AnnotationAssertion( "NCI:C7568"^^xsd:string) AnnotationAssertion( "acrospiroma"^^xsd:string) AnnotationAssertion( "acrospiromas"^^xsd:string) AnnotationAssertion( "clear cell hidradrenoma"^^xsd:string) AnnotationAssertion( "clear-cell hidradrenomas"^^xsd:string) AnnotationAssertion( "eccrine acrospiromas"^^xsd:string) AnnotationAssertion( "eccrine hidradenoma"^^xsd:string) AnnotationAssertion( "eccrine hidradenoma of skin"^^xsd:string) AnnotationAssertion( "nodular hidradrenoma"^^xsd:string) AnnotationAssertion( "nodular hidradrenomas"^^xsd:string) AnnotationAssertion( "solid cystic hidradenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5442"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine acrospiroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (clear cell hidradenoma) AnnotationAssertion( "NCI:C7567"^^xsd:string) AnnotationAssertion( "clear cell myoepithelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5443"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell hidradenoma"^^xsd:string) SubClassOf( ) # Class: (spiradenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8403/0"^^xsd:string) AnnotationAssertion( "NCI:C4170"^^xsd:string) AnnotationAssertion( "RDO:9004534"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:4977000"^^xsd:string) "Eccrine spiradenoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:403938001"^^xsd:string) "Eccrine spiradenoma of skin"^^xsd:string) AnnotationAssertion( "benign eccrine spiradenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5444"^^xsd:string) AnnotationAssertion(rdfs:label "spiradenoma"^^xsd:string) SubClassOf( ) # Class: (syringocystadenoma papilliferum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000558"^^xsd:string) AnnotationAssertion( "GARD:5100"^^xsd:string) AnnotationAssertion( "ICDO:8406/0"^^xsd:string) AnnotationAssertion( "NCI:C4172"^^xsd:string) AnnotationAssertion( "papillary syringadenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5445"^^xsd:string) AnnotationAssertion(rdfs:label "syringocystadenoma papilliferum"^^xsd:string) SubClassOf( ) # Class: (eccrine papillary adenoma) AnnotationAssertion(Annotation( "http://pubs.sciepub.com/ajmcr/4/9/3/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29582790"^^xsd:string) "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10463"^^xsd:string) AnnotationAssertion( "ICDO:8408/0"^^xsd:string) AnnotationAssertion( "NCI:C4173"^^xsd:string) AnnotationAssertion( "eccrine papillary adenoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5446"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine papillary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary venoocclusive disease) AnnotationAssertion(Annotation( "MESH:D011668"^^xsd:string) Annotation( "https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27009171/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28118962/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32252933/"^^xsd:string) "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10153"^^xsd:string) AnnotationAssertion( "MESH:D011668"^^xsd:string) AnnotationAssertion( "MIM:PS265450"^^xsd:string) AnnotationAssertion( "NCI:C85039"^^xsd:string) AnnotationAssertion( "ORDO:31837"^^xsd:string) AnnotationAssertion( "PVOD"^^xsd:string) AnnotationAssertion( "pulmonary veno-occlusive disease"^^xsd:string) AnnotationAssertion( "pulmonary veno-occlusive diseases"^^xsd:string) AnnotationAssertion( "pulmonary venoocclusive diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5453"^^xsd:string) AnnotationAssertion(rdfs:comment "OMIM has split this term into two subtypes. (DO)"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary venoocclusive disease"^^xsd:string) SubClassOf( ) # Class: (laryngeal neuroendocrine tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6023"^^xsd:string) AnnotationAssertion( "laryngeal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of larynx"^^xsd:string) AnnotationAssertion( "neuroendocrine tumour of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5457"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cochlear disease) AnnotationAssertion(Annotation( "MESH:D015834"^^xsd:string) "Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH)."^^xsd:string) AnnotationAssertion( "MESH:D015834"^^xsd:string) AnnotationAssertion( "RDO:0006926"^^xsd:string) AnnotationAssertion( "cochlear diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5463"^^xsd:string) AnnotationAssertion(rdfs:label "cochlear disease"^^xsd:string) SubClassOf( ) # Class: (conjunctival intraepithelial neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27584160"^^xsd:string) "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6120"^^xsd:string) AnnotationAssertion( "intraepithelial neoplasia of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5465"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival intraepithelial neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (conjunctival cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C69.0"^^xsd:string) AnnotationAssertion( "ICD9CM:190.3"^^xsd:string) AnnotationAssertion( "NCI:C2961"^^xsd:string) AnnotationAssertion( "NCI:C3564"^^xsd:string) AnnotationAssertion( "conjunctival tumor"^^xsd:string) AnnotationAssertion( "malignant conjunctival tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of conjunctiva"^^xsd:string) AnnotationAssertion( "malignant tumor of conjunctiva"^^xsd:string) AnnotationAssertion( "neoplasm of conjunctiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5467"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctival cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biliary papillomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21988050"^^xsd:string) "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C65198"^^xsd:string) AnnotationAssertion( "bile duct papillomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5468"^^xsd:string) AnnotationAssertion(rdfs:label "biliary papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (biliary tract intraductal papillary mucinous neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37215"^^xsd:string) AnnotationAssertion( "RDO:9003853"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5469"^^xsd:string) AnnotationAssertion(rdfs:label "biliary tract intraductal papillary mucinous neoplasm"^^xsd:string) SubClassOf( ) # Class: (ovarian serous adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26881611"^^xsd:string) "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000428"^^xsd:string) AnnotationAssertion( "NCI:C40031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5474"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian serous adenofibroma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus adenofibroma) AnnotationAssertion(Annotation( "https://jcp.bmj.com/content/63/4/377.1.short"^^xsd:string) "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6337"^^xsd:string) AnnotationAssertion( "RDO:9005003"^^xsd:string) AnnotationAssertion( "adenofibroma of corpus uteri"^^xsd:string) AnnotationAssertion( "adenofibroma of uterine corpus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5475"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus adenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12410376"^^xsd:string) "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40230"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5476"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenofibroma"^^xsd:string) SubClassOf( ) # Class: (clear cell adenofibroma) AnnotationAssertion(Annotation( "http://www.jcancer.org/v02p0094.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24721826"^^xsd:string) "An adenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8313/0"^^xsd:string) AnnotationAssertion( "clear cell adenofibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5477"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell adenofibroma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/"^^xsd:string) "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40113"^^xsd:string) AnnotationAssertion( "RDO:9005005"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5478"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube adenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1595599"^^xsd:string) "An adenofibroma that is characterized by finger-like projections on histology. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8986"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5479"^^xsd:string) AnnotationAssertion(rdfs:label "papillary adenofibroma"^^xsd:string) SubClassOf( ) # Class: (ovarian endometrioid adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9631607"^^xsd:string) "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27287"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5480"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrioid adenofibroma"^^xsd:string) SubClassOf( ) # Class: (cystadenofibroma) AnnotationAssertion(Annotation( "http://www.ajronline.org/cgi/content/full/182/5/1259"^^xsd:string) "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D062625"^^xsd:string) AnnotationAssertion( "NCI:C8985"^^xsd:string) AnnotationAssertion( "NCI:C8987"^^xsd:string) AnnotationAssertion( "benign clear cell adenofibroma"^^xsd:string) AnnotationAssertion( "benign cystadenofibroma"^^xsd:string) AnnotationAssertion( "benign cystadenofibromas"^^xsd:string) AnnotationAssertion( "borderline clear cell adenofibroma"^^xsd:string) AnnotationAssertion( "borderline cystadenofibroma"^^xsd:string) AnnotationAssertion( "borderline cystadenofibromas"^^xsd:string) AnnotationAssertion( "cystadenofibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5482"^^xsd:string) AnnotationAssertion(rdfs:label "cystadenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (fibrous synovial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6533"^^xsd:string) AnnotationAssertion( "fibrous sarcoma of synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5484"^^xsd:string) AnnotationAssertion(rdfs:label "fibrous synovial sarcoma"^^xsd:string) SubClassOf( ) # Class: (synovial sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Synovial_sarcoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=44626"^^xsd:string) "A synovium cancer which develops in the synovial membrane of the joints. (DO)"^^xsd:string) AnnotationAssertion( "MIM:300813"^^xsd:string) AnnotationAssertion( "EFO:0001376"^^xsd:string) AnnotationAssertion( "EFO:1000019"^^xsd:string) AnnotationAssertion( "GARD:7721"^^xsd:string) AnnotationAssertion( "ICDO:9040/3"^^xsd:string) AnnotationAssertion( "MESH:D013584"^^xsd:string) AnnotationAssertion( "NCI:C3400"^^xsd:string) AnnotationAssertion( "Synovioma"^^xsd:string) AnnotationAssertion( "synovial sarcomas"^^xsd:string) AnnotationAssertion( "synoviomas"^^xsd:string) AnnotationAssertion( "primary synovial sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5485"^^xsd:string) AnnotationAssertion(rdfs:label "synovial sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spindle cell synovial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4277"^^xsd:string) AnnotationAssertion( "monophasic fibrous synovial sarcoma"^^xsd:string) AnnotationAssertion( "synovial sarcoma with spindle cell components"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5487"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell synovial sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum synovial sarcoma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/"^^xsd:string) "A synovial sarcoma that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6618"^^xsd:string) AnnotationAssertion( "synovial sarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5488"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum synovial sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biphasic synovial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4279"^^xsd:string) AnnotationAssertion( "biphasic sarcoma of synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5492"^^xsd:string) AnnotationAssertion(rdfs:label "biphasic synovial sarcoma"^^xsd:string) SubClassOf( ) # Class: (epithelioid cell synovial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4278"^^xsd:string) AnnotationAssertion( "epithelioid synovial sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5494"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid cell synovial sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (monophasic synovial sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000595"^^xsd:string) AnnotationAssertion( "NCI:C6534"^^xsd:string) AnnotationAssertion( "monophasic sarcoma of synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5495"^^xsd:string) AnnotationAssertion(rdfs:label "monophasic synovial sarcoma"^^xsd:string) SubClassOf( ) # Class: (cellular ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4713"^^xsd:string) AnnotationAssertion( "NCI:C4714"^^xsd:string) AnnotationAssertion( "RDO:9004181"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5500"^^xsd:string) AnnotationAssertion(rdfs:label "cellular ependymoma"^^xsd:string) SubClassOf( ) # Class: (Pediculus humanus capitis infestation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Head-louse_infestation"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm"^^xsd:string) "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B85.0"^^xsd:string) AnnotationAssertion( "ICD9CM:132.0"^^xsd:string) AnnotationAssertion( "Pediculosis capitis"^^xsd:string) AnnotationAssertion( "Pediculus capitis"^^xsd:string) AnnotationAssertion( "Pediculus capitis infestation"^^xsd:string) AnnotationAssertion( "head louse infestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5501"^^xsd:string) AnnotationAssertion(rdfs:label "Pediculus humanus capitis infestation"^^xsd:string) SubClassOf( ) # Class: (lice infestation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pediculosis"^^xsd:string) "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B85.2"^^xsd:string) AnnotationAssertion( "ICD9CM:132.9"^^xsd:string) AnnotationAssertion( "MESH:D010373"^^xsd:string) AnnotationAssertion( "NCI:C128401"^^xsd:string) AnnotationAssertion( "infestation by Pediculus"^^xsd:string) AnnotationAssertion( "lice infestations"^^xsd:string) AnnotationAssertion( "louse infestation"^^xsd:string) AnnotationAssertion( "mixed pediculosis"^^xsd:string) AnnotationAssertion( "mixed pediculosis infestation"^^xsd:string) AnnotationAssertion( "pediculoses"^^xsd:string) AnnotationAssertion( "pediculosis"^^xsd:string) AnnotationAssertion( "pediculosis + lice"^^xsd:string) AnnotationAssertion( "pediculosis and phthirus infection"^^xsd:string) AnnotationAssertion( "pediculosis and phthirus infections"^^xsd:string) AnnotationAssertion( "pediculosis and phthirus infestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5502"^^xsd:string) AnnotationAssertion(rdfs:label "lice infestation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord ependymoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46432"^^xsd:string) "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3875"^^xsd:string) AnnotationAssertion( "Spinal ependymoma"^^xsd:string) AnnotationAssertion( "ependymal neoplasm of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5503"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tanycytic ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6903"^^xsd:string) AnnotationAssertion( "RDO:9004177"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5504"^^xsd:string) AnnotationAssertion(rdfs:label "tanycytic ependymoma"^^xsd:string) SubClassOf( ) # Class: (papillary ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9393/3"^^xsd:string) AnnotationAssertion( "NCI:C4319"^^xsd:string) AnnotationAssertion( "RDO:9004598"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5505"^^xsd:string) AnnotationAssertion(rdfs:label "papillary ependymoma"^^xsd:string) SubClassOf( ) # Class: (clear cell ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5507"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell ependymoma"^^xsd:string) SubClassOf( ) # Class: (brain stem ependymoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ependyma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string) "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5098"^^xsd:string) AnnotationAssertion( "ependymoma of the brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5508"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood ependymoma) AnnotationAssertion( "MESH:C531673"^^xsd:string) AnnotationAssertion( "NCI:C8578"^^xsd:string) AnnotationAssertion( "adult intracranial ependymoma"^^xsd:string) AnnotationAssertion( "familial ependymoma"^^xsd:string) AnnotationAssertion( "pediatric ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5509"^^xsd:string) AnnotationAssertion(rdfs:label "childhood ependymoma"^^xsd:string) SubClassOf( ) # Class: (toxic pneumonitis) AnnotationAssertion(Annotation( "https://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases"^^xsd:string) "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. (DO)"^^xsd:string) AnnotationAssertion( "DOID:554"^^xsd:string) AnnotationAssertion( "ICD9CM:506.9"^^xsd:string) AnnotationAssertion( "acute chemical fume pulmonary edema"^^xsd:string) AnnotationAssertion( "acute chemical pulmonary edema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:551"^^xsd:string) AnnotationAssertion(rdfs:label "toxic pneumonitis"^^xsd:string) SubClassOf( ) # Class: (pineal dysgerminoma) AnnotationAssertion( "NCI:C7169"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5510"^^xsd:string) AnnotationAssertion(rdfs:label "pineal dysgerminoma"^^xsd:string) SubClassOf( ) # Class: (dysgerminoma of ovary) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string) "A dysgerminoma that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000414"^^xsd:string) AnnotationAssertion( "NCI:C8106"^^xsd:string) AnnotationAssertion( "ovarian dysgerminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5511"^^xsd:string) AnnotationAssertion(rdfs:label "dysgerminoma of ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pediculus humanus corporis infestation) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm"^^xsd:string) "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B85.1"^^xsd:string) AnnotationAssertion( "ICD9CM:132.1"^^xsd:string) AnnotationAssertion( "Pediculus corporis"^^xsd:string) AnnotationAssertion( "Pediculus humanus infestation"^^xsd:string) AnnotationAssertion( "body louse infestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5513"^^xsd:string) AnnotationAssertion(rdfs:label "Pediculus humanus corporis infestation"^^xsd:string) SubClassOf( ) # Class: (breast squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/"^^xsd:string) "A breast metaplastic carcinoma that arises from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000053"^^xsd:string) AnnotationAssertion( "NCI:C5177"^^xsd:string) AnnotationAssertion( "SCC of breast"^^xsd:string) AnnotationAssertion( "breast primary squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "primary squamous cell carcinoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "primary squamous cell carcinoma of breast"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of breast"^^xsd:string) AnnotationAssertion( "DOID:5514"^^xsd:string) AnnotationAssertion(rdfs:label "breast squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A nasal cavity carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000057"^^xsd:string) AnnotationAssertion( "NCI:C8192"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of nasal cavity"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5515"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21113875"^^xsd:string) "A squamous cell carcinoma that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000278"^^xsd:string) AnnotationAssertion( "NCI:C24234"^^xsd:string) AnnotationAssertion( "NCI:C5475"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5516"^^xsd:string) AnnotationAssertion(rdfs:label "gastric squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stomach carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stomach_cancer"^^xsd:string) "A stomach cancer that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000178"^^xsd:string) AnnotationAssertion( "EFO:0008502"^^xsd:string) AnnotationAssertion( "NCI:C24225"^^xsd:string) AnnotationAssertion( "NCI:C4911"^^xsd:string) AnnotationAssertion( "carcinoma of stomach"^^xsd:string) AnnotationAssertion( "gastric carcinoma"^^xsd:string) AnnotationAssertion( "gastric non-cardia carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5517"^^xsd:string) AnnotationAssertion(rdfs:label "stomach carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penis squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A penis carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:8008"^^xsd:string) AnnotationAssertion( "NCI:C6979"^^xsd:string) AnnotationAssertion( "NCI:C7729"^^xsd:string) AnnotationAssertion( "RDO:9002247"^^xsd:string) AnnotationAssertion( "epidermoid cell carcinoma of penis"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5518"^^xsd:string) AnnotationAssertion(rdfs:label "penis squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colon squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10211528"^^xsd:string) "A squamous cell carcinoma that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000198"^^xsd:string) AnnotationAssertion( "NCI:C5490"^^xsd:string) AnnotationAssertion( "RDO:9002373"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5490"^^xsd:string) "Colonic Epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "Colorectal Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5519"^^xsd:string) AnnotationAssertion(rdfs:label "colon squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pneumonia"^^xsd:string) "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003106"^^xsd:string) AnnotationAssertion( "EFO:1001991"^^xsd:string) AnnotationAssertion( "MESH:D011014"^^xsd:string) AnnotationAssertion( "NCI:C3333"^^xsd:string) AnnotationAssertion( "Experimental Lung Inflammation"^^xsd:string) AnnotationAssertion( "Lobar Pneumonia"^^xsd:string) AnnotationAssertion( "Lobar Pneumonias"^^xsd:string) AnnotationAssertion( "Lung Inflammation"^^xsd:string) AnnotationAssertion( "Lung Inflammations"^^xsd:string) AnnotationAssertion( "Pneumonias"^^xsd:string) AnnotationAssertion( "Pneumonitides"^^xsd:string) AnnotationAssertion( "Pneumonitis"^^xsd:string) AnnotationAssertion( "Pulmonary Inflammation"^^xsd:string) AnnotationAssertion( "acute pneumonia"^^xsd:string) AnnotationAssertion( "experimental lung inflammations"^^xsd:string) AnnotationAssertion( "pulmonary inflammations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:552"^^xsd:string) AnnotationAssertion(rdfs:label "pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (head and neck squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=597171"^^xsd:string) "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. (DO)"^^xsd:string) AnnotationAssertion( "MIM:275355"^^xsd:string) AnnotationAssertion( "EFO:0000181"^^xsd:string) AnnotationAssertion( "GARD:8503"^^xsd:string) AnnotationAssertion( "MESH:D000077195"^^xsd:string) AnnotationAssertion( "NCI:C34447"^^xsd:string) AnnotationAssertion( "HNSCC"^^xsd:string) AnnotationAssertion( "SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC"^^xsd:string) AnnotationAssertion( "carcinoma of the head and neck"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of the head and neck"^^xsd:string) AnnotationAssertion( "squamous cell carcinomas of head and neck"^^xsd:string) AnnotationAssertion( "LIP AND ORAL CAVITY CARCINOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5520"^^xsd:string) AnnotationAssertion(rdfs:label "head and neck squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratinizing squamous cell carcinoma) AnnotationAssertion(Annotation( "http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false"^^xsd:string) "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000559"^^xsd:string) AnnotationAssertion( "NCI:C4105"^^xsd:string) AnnotationAssertion( "keratinizing epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5521"^^xsd:string) AnnotationAssertion(rdfs:label "keratinizing squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (basaloid squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19738459"^^xsd:string) "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001940"^^xsd:string) AnnotationAssertion( "ICDO:8083/3"^^xsd:string) AnnotationAssertion( "NCI:C54244"^^xsd:string) AnnotationAssertion( "Basaloid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5522"^^xsd:string) AnnotationAssertion(rdfs:label "basaloid squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenoid squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma"^^xsd:string) "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4106"^^xsd:string) AnnotationAssertion( "NCI:C4200"^^xsd:string) AnnotationAssertion( "acantholytic squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "adenoacanthoma"^^xsd:string) AnnotationAssertion( "adenocarcinoma with squamous metaplasia"^^xsd:string) AnnotationAssertion( "pseudoglandular squamous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5524"^^xsd:string) AnnotationAssertion(rdfs:label "adenoid squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (anal squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anal_cancer"^^xsd:string) "An anal carcinoma that arises near the squamocolumnar junction. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000081"^^xsd:string) AnnotationAssertion( "NCI:C9161"^^xsd:string) AnnotationAssertion( "epidermoid anal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5525"^^xsd:string) AnnotationAssertion(rdfs:label "anal squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (middle ear squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "A middle ear carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000378"^^xsd:string) AnnotationAssertion( "NCI:C6086"^^xsd:string) AnnotationAssertion( "RDO:9002275"^^xsd:string) AnnotationAssertion( "Epidermoid carcinoma of the middle ear"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5526"^^xsd:string) AnnotationAssertion(rdfs:label "middle ear squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "An ampulla of Vater carcinoma that derives_from epithelial squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27417"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5527"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25956212"^^xsd:string) "A squamous cell carcinoma that is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5554"^^xsd:string) AnnotationAssertion( "squamous carcinoma of rectum"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of the rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5528"^^xsd:string) AnnotationAssertion(rdfs:label "rectum squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lacrimal gland squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12724709"^^xsd:string) "A squamous cell carcinoma that is located_in the lacrimal gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6092"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the lacrimal gland"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of lacrimal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5529"^^xsd:string) AnnotationAssertion(rdfs:label "lacrimal gland squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23235139"^^xsd:string) "A squamous cell carcinoma that is located_in the thymus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000579"^^xsd:string) AnnotationAssertion( "NCI:C6455"^^xsd:string) AnnotationAssertion( "Thymic Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "epidermoid thymic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5530"^^xsd:string) AnnotationAssertion(rdfs:label "thymus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25511544"^^xsd:string) "An ovarian carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:5532"^^xsd:string) AnnotationAssertion( "EFO:1000432"^^xsd:string) AnnotationAssertion( "NCI:C40092"^^xsd:string) AnnotationAssertion( "NCI:C40093"^^xsd:string) AnnotationAssertion( "ovarian squamous cell neoplasm"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5531"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (endometrial squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24615329"^^xsd:string) "An endometrial carcinoma that has_material_basis_in squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000240"^^xsd:string) AnnotationAssertion( "NCI:C8719"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of endometrium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5533"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal pelvis squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24493112"^^xsd:string) "A squamous cell carcinoma that is located_in the renal pelvis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7732"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the kidney pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of renal pelvis"^^xsd:string) AnnotationAssertion( "DOID:5534"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26236536"^^xsd:string) "A squamous cell carcinoma that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000267"^^xsd:string) AnnotationAssertion( "NCI:C9170"^^xsd:string) AnnotationAssertion( "RDO:9002387"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9170"^^xsd:string) "Epidermoid gallbladder carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "DOID:5535"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcomatoid squamous cell skin carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27084"^^xsd:string) AnnotationAssertion( "NCI:C4666"^^xsd:string) AnnotationAssertion( "sarcomatoid squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "spindle cell (sarcomatoid) squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "spindle cell (sarcomatoid) squamous cell skin carcinoma"^^xsd:string) AnnotationAssertion( "spindle cell squamous carcinoma of skin"^^xsd:string) AnnotationAssertion( "spindle cell squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5536"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid squamous cell skin carcinoma"^^xsd:string) SubClassOf( ) # Class: (squamous cell bile duct carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15767732"^^xsd:string) "A squamous cell carcinoma that is located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000248"^^xsd:string) AnnotationAssertion( "NCI:C5777"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5537"^^xsd:string) AnnotationAssertion(rdfs:label "squamous cell bile duct carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (external ear squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/"^^xsd:string) "A squamous cell carcinoma that is located_in the external ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6083"^^xsd:string) AnnotationAssertion( "Epidermoid carcinoma of the External ear"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5538"^^xsd:string) AnnotationAssertion(rdfs:label "external ear squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17574059"^^xsd:string) "A squamous cell carcinoma that is located_in the ureter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6154"^^xsd:string) AnnotationAssertion( "RDO:9002390"^^xsd:string) AnnotationAssertion( "ureteral epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5539"^^xsd:string) AnnotationAssertion(rdfs:label "ureter squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (fallopian tube squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22707217"^^xsd:string) "A fallopian tube carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6282"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5540"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal neuroendocrine tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5603"^^xsd:string) AnnotationAssertion( "RDO:9004505"^^xsd:string) AnnotationAssertion( "anal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of anus"^^xsd:string) AnnotationAssertion( "neuroendocrine tumour of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5545"^^xsd:string) AnnotationAssertion(rdfs:label "anal neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (femoral cancer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35402113/"^^xsd:string) "A bone cancer that is located_in the femur. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007270"^^xsd:string) AnnotationAssertion( "cancer of the femur"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5546"^^xsd:string) AnnotationAssertion(rdfs:label "femoral cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary artery choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11834687"^^xsd:string) "A choriocarcinoma that is located_in the pulmonary artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5381"^^xsd:string) AnnotationAssertion( "syncytioma of pulmonary artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5547"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary artery choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (choriocarcinoma of ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/"^^xsd:string) "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000413"^^xsd:string) AnnotationAssertion( "NCI:C4515"^^xsd:string) AnnotationAssertion( "ovarian choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5550"^^xsd:string) AnnotationAssertion(rdfs:label "choriocarcinoma of ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choriocarcinoma of the testis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24949806"^^xsd:string) "A choriocarcinoma that is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000564"^^xsd:string) AnnotationAssertion( "NCI:C7733"^^xsd:string) AnnotationAssertion( "testicular choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5551"^^xsd:string) AnnotationAssertion(rdfs:label "choriocarcinoma of the testis"^^xsd:string) SubClassOf( ) # Class: (pineal region choriocarcinoma) AnnotationAssertion( "NCI:C6759"^^xsd:string) AnnotationAssertion( "pineal choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5553"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (testicular malignant germ cell cancer) AnnotationAssertion( "NCI:C9063"^^xsd:string) AnnotationAssertion( "malignant germ cell tumor of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5556"^^xsd:string) AnnotationAssertion(rdfs:label "testicular malignant germ cell cancer"^^xsd:string) SubClassOf( ) # Class: (testicular germ cell cancer) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=445090"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=695185"^^xsd:string) "A testicular cancer that has_material_basis_in germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8591"^^xsd:string) AnnotationAssertion( "ORDO:3636504"^^xsd:string) AnnotationAssertion( "germ cell tumor of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "testicular germ cell neoplasm"^^xsd:string) AnnotationAssertion( "DOID:5557"^^xsd:string) AnnotationAssertion(rdfs:label "testicular germ cell cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mediastinal"^^xsd:string) "A thoracic cancer that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007362"^^xsd:string) AnnotationAssertion( "EFO:1000366"^^xsd:string) AnnotationAssertion( "ICD10CM:C38.3"^^xsd:string) AnnotationAssertion( "ICD9CM:164.9"^^xsd:string) AnnotationAssertion( "NCI:C3221"^^xsd:string) AnnotationAssertion( "NCI:C3549"^^xsd:string) AnnotationAssertion( "cancer of mediastinum"^^xsd:string) AnnotationAssertion( "cancer of the mediastinum"^^xsd:string) AnnotationAssertion( "mediastinal cancers"^^xsd:string) AnnotationAssertion( "mediastinal tumor"^^xsd:string) AnnotationAssertion( "mediastinum cancer"^^xsd:string) AnnotationAssertion( "mediastinum cancers"^^xsd:string) AnnotationAssertion( "neoplasm of mediastinum"^^xsd:string) AnnotationAssertion( "tumour of mediastinum"^^xsd:string) AnnotationAssertion( "Mediastinal Malignant Germ Cell Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5559"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinal mesenchymal tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6637"^^xsd:string) AnnotationAssertion( "RDO:9005081"^^xsd:string) AnnotationAssertion( "mediastinal mesenchymal tumour"^^xsd:string) AnnotationAssertion( "soft tissue tumor of mediastinum"^^xsd:string) AnnotationAssertion( "soft tissue tumour of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5560"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal mesenchymal tumor"^^xsd:string) SubClassOf( ) # Class: (gastric teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26850909"^^xsd:string) "A teratoma that is located_in the stomach or other gastric tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5259"^^xsd:string) AnnotationAssertion( "teratoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5561"^^xsd:string) AnnotationAssertion(rdfs:label "gastric teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant teratoma) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation"^^xsd:string) "A teratoma that is cancerous. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000563"^^xsd:string) AnnotationAssertion( "NCI:C4286"^^xsd:string) AnnotationAssertion( "NCI:C60468"^^xsd:string) AnnotationAssertion( "NCI:C8884"^^xsd:string) AnnotationAssertion( "RDO:9004020"^^xsd:string) AnnotationAssertion( "Teratoma with Malignant Transformation"^^xsd:string) AnnotationAssertion( "Teratoma, malignant, NOS"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4286"^^xsd:string) "immature teratoma"^^xsd:string) AnnotationAssertion( "immature teratomas"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8884"^^xsd:string) "malignant extragonadal teratoma"^^xsd:string) AnnotationAssertion( "primary malignant extragonadal teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5563"^^xsd:string) AnnotationAssertion(rdfs:label "malignant teratoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14127249"^^xsd:string) "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40131"^^xsd:string) AnnotationAssertion( "RDO:9004033"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5564"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult teratoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/B9780702031311000353"^^xsd:string) "A benign teratoma that is present in an adult. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9013"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5565"^^xsd:string) AnnotationAssertion(rdfs:label "adult teratoma"^^xsd:string) SubClassOf( ) # Class: (mature teratoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma"^^xsd:string) "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9080/0"^^xsd:string) AnnotationAssertion( "NCI:C9015"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5566"^^xsd:string) AnnotationAssertion(rdfs:label "mature teratoma"^^xsd:string) SubClassOf( ) # Class: (ovarian germ cell teratoma) AnnotationAssertion( "EFO:0006463"^^xsd:string) AnnotationAssertion( "NCI:C8110"^^xsd:string) AnnotationAssertion( "germ cell teratoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5567"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian germ cell teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum teratoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/mediastinal-teratoma"^^xsd:string) Annotation( "https://www.sciencedirect.com/science/article/pii/S1755001709000323"^^xsd:string) "A teratoma that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6438"^^xsd:string) AnnotationAssertion( "teratoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5568"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant syringoma) AnnotationAssertion( "microcystic adnexal carcinoma"^^xsd:string) AnnotationAssertion( "microcystic adnexal carcinoma of skin"^^xsd:string) AnnotationAssertion( "syringomatous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5569"^^xsd:string) AnnotationAssertion(rdfs:label "malignant syringoma"^^xsd:string) SubClassOf( ) # Class: (kidney disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/kidneydiseases.html"^^xsd:string) "A urinary system disease that is located_in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "DOID:11705"^^xsd:string) AnnotationAssertion( "MIM:602914"^^xsd:string) AnnotationAssertion( "OMIA:000710"^^xsd:string) AnnotationAssertion( "EFO:0003086"^^xsd:string) AnnotationAssertion( "EFO:0009833"^^xsd:string) AnnotationAssertion( "ICD10CM:N08"^^xsd:string) AnnotationAssertion( "MESH:D007674"^^xsd:string) AnnotationAssertion( "NCI:C3149"^^xsd:string) AnnotationAssertion( "NCI:C34843"^^xsd:string) AnnotationAssertion( "impaired renal function disease"^^xsd:string) AnnotationAssertion( "kidney diseases"^^xsd:string) AnnotationAssertion( "nephropathy"^^xsd:string) AnnotationAssertion( "renal disease"^^xsd:string) AnnotationAssertion( "RENAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "kidney injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:557"^^xsd:string) AnnotationAssertion(rdfs:label "kidney disease"^^xsd:string) SubClassOf( ) # Class: (malignant acrospiroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C43345"^^xsd:string) AnnotationAssertion( "anaplastic syringoma"^^xsd:string) AnnotationAssertion( "eccrine ductal carcinoma"^^xsd:string) AnnotationAssertion( "eccrine ductal carcinoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5570"^^xsd:string) AnnotationAssertion(rdfs:label "malignant acrospiroma"^^xsd:string) SubClassOf( ) # Class: (Beckwith-Wiedemann syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract"^^xsd:string) "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:130650"^^xsd:string) AnnotationAssertion( "GARD:3343"^^xsd:string) AnnotationAssertion( "MESH:D001506"^^xsd:string) AnnotationAssertion( "MONDO:0007534"^^xsd:string) AnnotationAssertion( "NCI:C34415"^^xsd:string) AnnotationAssertion( "ORDO:116"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT KCNQ1-RELATED DISEASE"^^xsd:string) AnnotationAssertion( "BWS"^^xsd:string) AnnotationAssertion( "EMG Syndrome"^^xsd:string) AnnotationAssertion( "EMG Syndromes"^^xsd:string) AnnotationAssertion( "Exomphalos-Macroglossia-Gigantism Syndrome"^^xsd:string) AnnotationAssertion( "KCNQ1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WBS"^^xsd:string) AnnotationAssertion( "Wiedemann Beckwith syndromes (WBS)"^^xsd:string) AnnotationAssertion( "Wiedemann-Beckwith syndrome (WBS)"^^xsd:string) AnnotationAssertion( "BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION"^^xsd:string) AnnotationAssertion( "BWCR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5572"^^xsd:string) AnnotationAssertion(rdfs:label "Beckwith-Wiedemann syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vipoma) AnnotationAssertion(Annotation( "MESH:D003969"^^xsd:string) "A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites."^^xsd:string) AnnotationAssertion( "EFO:1000622"^^xsd:string) AnnotationAssertion( "GARD:5493"^^xsd:string) AnnotationAssertion( "ICDO:8155/3"^^xsd:string) AnnotationAssertion( "MESH:D003969"^^xsd:string) AnnotationAssertion( "NCI:C26749"^^xsd:string) AnnotationAssertion( "Diarrheogenic Islet Cell Tumor"^^xsd:string) AnnotationAssertion( "Diarrheogenic Tumor"^^xsd:string) AnnotationAssertion( "VIP Secreting Tumor (VIPoma)"^^xsd:string) AnnotationAssertion( "VIP-Secreting Tumors (VIPoma)"^^xsd:string) AnnotationAssertion( "VIP-secreting tumor"^^xsd:string) AnnotationAssertion( "Vasoactive Intestinal Peptide (VIP) Tumor"^^xsd:string) AnnotationAssertion( "Vasoactive Intestinal Peptide Producing Tumor"^^xsd:string) AnnotationAssertion( "Vipoma Syndrome"^^xsd:string) AnnotationAssertion( "Vipomas"^^xsd:string) AnnotationAssertion( "WDHA"^^xsd:string) AnnotationAssertion( "WDHA syndrome"^^xsd:string) AnnotationAssertion( "WDHA syndromes"^^xsd:string) AnnotationAssertion( "WDHH"^^xsd:string) AnnotationAssertion( "Watery Diarrhea Syndrome"^^xsd:string) AnnotationAssertion( "Watery Diarrhea with Hypokalemic Alkalosis"^^xsd:string) AnnotationAssertion( "Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome"^^xsd:string) AnnotationAssertion( "diarrheogenic tumors"^^xsd:string) AnnotationAssertion( "malignant vasoactive intestinal peptide-secreting tumor"^^xsd:string) AnnotationAssertion( "malignant vipoma"^^xsd:string) AnnotationAssertion( "vasoactive intestinal peptide-secreting tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5574"^^xsd:string) AnnotationAssertion(rdfs:label "vipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inhibited male orgasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F52.32"^^xsd:string) AnnotationAssertion( "NCI:C34959"^^xsd:string) AnnotationAssertion( "RDO:9004659"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C34959"^^xsd:string) "male Orgasmic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5576"^^xsd:string) AnnotationAssertion(rdfs:label "inhibited male orgasm"^^xsd:string) SubClassOf( ) # Class: (gastrinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=44239"^^xsd:string) "A neuroendocrine tumor that results_in an overproduction of gastric acid. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8153/3"^^xsd:string) AnnotationAssertion( "MESH:D015408"^^xsd:string) AnnotationAssertion( "NCI:C3050"^^xsd:string) AnnotationAssertion( "Gastrin Producing Tumor"^^xsd:string) AnnotationAssertion( "Gastrin-Producing Tumors"^^xsd:string) AnnotationAssertion( "Gastrinomas"^^xsd:string) AnnotationAssertion( "Ulcerogenic Islet Cell Tumor"^^xsd:string) AnnotationAssertion( "gastrin cell tumour"^^xsd:string) AnnotationAssertion( "gastrin secreting tumor"^^xsd:string) AnnotationAssertion( "malignant gastrinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5577"^^xsd:string) AnnotationAssertion(rdfs:label "gastrinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric gastrinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27444"^^xsd:string) AnnotationAssertion( "gastric G-cell gastrin producing tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5579"^^xsd:string) AnnotationAssertion(rdfs:label "gastric gastrinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic gastrinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000440"^^xsd:string) AnnotationAssertion( "NCI:C9069"^^xsd:string) AnnotationAssertion( "NCI:C95596"^^xsd:string) AnnotationAssertion( "RDO:9004591"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9069"^^xsd:string) "pancreatic G-cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5580"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic gastrinoma"^^xsd:string) SubClassOf( ) # Class: (lung giant cell carcinoma) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma"^^xsd:string) "A lung carcinoma that is located_in large undifferentiated cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000332"^^xsd:string) AnnotationAssertion( "NCI:C3779"^^xsd:string) AnnotationAssertion( "NCI:C4452"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5583"^^xsd:string) AnnotationAssertion(rdfs:label "lung giant cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ferguson-Smith tumor) AnnotationAssertion( "DOID:9003571"^^xsd:string) AnnotationAssertion( "MIM:132800"^^xsd:string) AnnotationAssertion( "RDO:0001611"^^xsd:string) AnnotationAssertion( "MESH:C536150"^^xsd:string) AnnotationAssertion( "NCI:C4461"^^xsd:string) AnnotationAssertion( "ESS1"^^xsd:string) AnnotationAssertion( "Epithelioma, self-healing squamous, 1"^^xsd:string) AnnotationAssertion( "Ferguson-Smith Type epithelioma"^^xsd:string) AnnotationAssertion( "Keratoacanthoma Familial"^^xsd:string) AnnotationAssertion( "MSSE"^^xsd:string) AnnotationAssertion( "multiple self-healing epithelioma of Ferguson-Smith"^^xsd:string) AnnotationAssertion( "multiple self-healing squamous epithelioma"^^xsd:string) AnnotationAssertion( "multiple self-healing squamous epithelioma, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5585"^^xsd:string) AnnotationAssertion(rdfs:label "Ferguson-Smith tumor"^^xsd:string) SubClassOf( ) # Class: (Volkmann contracture) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26815829"^^xsd:string) "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:T79.6"^^xsd:string) AnnotationAssertion( "ICD9CM:958.6"^^xsd:string) AnnotationAssertion( "MESH:D054061"^^xsd:string) AnnotationAssertion( "NCI:C35130"^^xsd:string) AnnotationAssertion( "Ischemic Contracture"^^xsd:string) AnnotationAssertion( "Volkmann Contractures"^^xsd:string) AnnotationAssertion( "Volkmann Ischemic Contracture"^^xsd:string) AnnotationAssertion( "Volkmann's Ischemic Contracture"^^xsd:string) AnnotationAssertion( "Volkmanns ischemic contracture"^^xsd:string) AnnotationAssertion( "ischemic contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5587"^^xsd:string) AnnotationAssertion(rdfs:label "Volkmann contracture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lung papillary adenocarcinoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/mediastinal-teratoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26766978"^^xsd:string) "A papillary adenocarcinoma that is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000046"^^xsd:string) AnnotationAssertion( "NCI:C5650"^^xsd:string) AnnotationAssertion( "papillary adenocarcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5588"^^xsd:string) AnnotationAssertion(rdfs:label "lung papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute pyelonephritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N10"^^xsd:string) AnnotationAssertion( "ICD9CM:590.1"^^xsd:string) AnnotationAssertion( "NCI:C123215"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:559"^^xsd:string) AnnotationAssertion(rdfs:label "acute pyelonephritis"^^xsd:string) SubClassOf( ) # Class: (aggressive digital papillary adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28477887"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28495496"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28832985"^^xsd:string) "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004996"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5590"^^xsd:string) AnnotationAssertion(rdfs:label "aggressive digital papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eccrine papillary adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003022"^^xsd:string) AnnotationAssertion( "Digital papillary adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5591"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast papillary carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/"^^xsd:string) "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6870"^^xsd:string) AnnotationAssertion( "Papillary carcinoma of the breast"^^xsd:string) AnnotationAssertion( "breast solid papillary carcinoma"^^xsd:string) AnnotationAssertion( "papillary carcinoma of breast"^^xsd:string) AnnotationAssertion( "solid papillary carcinoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5592"^^xsd:string) AnnotationAssertion(rdfs:label "breast papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric papillary adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11984707"^^xsd:string) "A papillary adenocarcinoma that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000276"^^xsd:string) AnnotationAssertion( "NCI:C5472"^^xsd:string) AnnotationAssertion( "RDO:9002471"^^xsd:string) AnnotationAssertion( "Papillary adenocarcinoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5593"^^xsd:string) AnnotationAssertion(rdfs:label "gastric papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary thymic adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27937"^^xsd:string) AnnotationAssertion( "papillary carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5595"^^xsd:string) AnnotationAssertion(rdfs:label "papillary thymic adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube papillary adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/"^^xsd:string) "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6267"^^xsd:string) AnnotationAssertion( "papillary adenocarcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5597"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fallopian tube serous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25163242"^^xsd:string) "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000253"^^xsd:string) AnnotationAssertion( "NCI:C40099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5598"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube serous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (jaw-winking syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/16411218/"^^xsd:string) "A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. (DO)"^^xsd:string) AnnotationAssertion( "MIM:154600"^^xsd:string) AnnotationAssertion( "ICD10CM:Q07.8"^^xsd:string) AnnotationAssertion( "ICD9CM:374.43"^^xsd:string) AnnotationAssertion( "MESH:C535908"^^xsd:string) AnnotationAssertion( "Familial Marcus Gunn phenomenon"^^xsd:string) AnnotationAssertion( "Jaw-winking"^^xsd:string) AnnotationAssertion( "Marcus Gunn Phenomenon"^^xsd:string) AnnotationAssertion( "Marcus-Gunn syndrome"^^xsd:string) AnnotationAssertion( "abnormal innervation syndrome of eyelid"^^xsd:string) AnnotationAssertion( "jaw-blinking"^^xsd:string) AnnotationAssertion( "maxillopalpebral synkinesis"^^xsd:string) AnnotationAssertion( "pterygoid-levator synkinesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:560"^^xsd:string) AnnotationAssertion(rdfs:label "jaw-winking syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (T-cell adult acute lymphocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142"^^xsd:string) "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001936"^^xsd:string) AnnotationAssertion( "NCI:C9142"^^xsd:string) AnnotationAssertion( "acute adult T-cell leukemia-lymphoma"^^xsd:string) AnnotationAssertion( "adult Precursor T Lymphoblastic Leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5602"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell adult acute lymphocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (T-cell acute lymphoblastic leukemia) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T"^^xsd:string) "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:5599"^^xsd:string) AnnotationAssertion( "DOID:715"^^xsd:string) AnnotationAssertion( "MIM:151440"^^xsd:string) AnnotationAssertion( "EFO:0000201"^^xsd:string) AnnotationAssertion( "EFO:0000209"^^xsd:string) AnnotationAssertion( "EFO:0005592"^^xsd:string) AnnotationAssertion( "EFO:1001830"^^xsd:string) AnnotationAssertion( "ICDO:9729/3"^^xsd:string) AnnotationAssertion( "ICDO:9837/3"^^xsd:string) AnnotationAssertion( "MESH:D015458"^^xsd:string) AnnotationAssertion( "MESH:D054218"^^xsd:string) AnnotationAssertion( "MONDO:0003540"^^xsd:string) AnnotationAssertion( "NCI:C21925"^^xsd:string) AnnotationAssertion( "NCI:C3183"^^xsd:string) AnnotationAssertion( "NCI:C3184"^^xsd:string) AnnotationAssertion( "NCI:C8694"^^xsd:string) AnnotationAssertion( "Early T cell progenitor acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "Precursor T Cell Lymphoblastic Lymphoma"^^xsd:string) AnnotationAssertion( "Precursor T-Cell Lymphoblastic Leukemia-Lymphoma"^^xsd:string) AnnotationAssertion( "T acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "T lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "T lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "T-ALL"^^xsd:string) AnnotationAssertion( "T-cell acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "T-cell acute lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "T-cell acute lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "T-cell leukemia"^^xsd:string) AnnotationAssertion( "T-cell leukemias"^^xsd:string) AnnotationAssertion( "T-cell lymphoblastic leukemia/lymphoma"^^xsd:string) AnnotationAssertion( "T-cell lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "T-cell lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "acute T-cell leukemia"^^xsd:string) AnnotationAssertion( "acute T-cell leukemias"^^xsd:string) AnnotationAssertion( "acute T-lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "acute T-lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "precursor T lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "precursor T-cell lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "precursor T-lymphoblastic lymphoma/leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "T-cell acute lymphoblastic leukemia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:5603"^^xsd:string) AnnotationAssertion(rdfs:label "T-cell acute lymphoblastic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult acute lymphocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967"^^xsd:string) "An acute lymphocytic leukemia occurring during adulthood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4967"^^xsd:string) AnnotationAssertion( "adult ALL"^^xsd:string) AnnotationAssertion( "adult acute lymphoid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5604"^^xsd:string) AnnotationAssertion(rdfs:label "adult acute lymphocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (breast medullary carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/medcabr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24065502"^^xsd:string) "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000580"^^xsd:string) AnnotationAssertion( "NCI:C9119"^^xsd:string) AnnotationAssertion( "medullary breast carcinoma with lymphoid stroma"^^xsd:string) AnnotationAssertion( "medullary carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5605"^^xsd:string) AnnotationAssertion(rdfs:label "breast medullary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental pulp calcification) AnnotationAssertion(Annotation( "MESH:D003784"^^xsd:string) "CALCINOSIS of the DENTAL PULP or ROOT CANAL."^^xsd:string) AnnotationAssertion( "RDO:0004085"^^xsd:string) AnnotationAssertion( "MESH:D003784"^^xsd:string) AnnotationAssertion( "Dental Pulp Stone"^^xsd:string) AnnotationAssertion( "Dental Pulp Stones"^^xsd:string) AnnotationAssertion( "Denticle"^^xsd:string) AnnotationAssertion( "Denticles"^^xsd:string) AnnotationAssertion( "Dentin Anomalous Dysplasia"^^xsd:string) AnnotationAssertion( "Dentin Anomalous Dysplasias"^^xsd:string) AnnotationAssertion( "dental pulp calcifications"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:0834-4423"^^xsd:string) "pulp calcification"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:522.2"^^xsd:string) "pulp calcifications"^^xsd:string) AnnotationAssertion( "pulp stone"^^xsd:string) AnnotationAssertion( "pulp stones"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:57602001"^^xsd:string) "pulpal calcifications"^^xsd:string) AnnotationAssertion( "pulpal dysplasia"^^xsd:string) AnnotationAssertion( "pulpal dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5608"^^xsd:string) AnnotationAssertion(rdfs:label "dental pulp calcification"^^xsd:string) SubClassOf( ) # Class: (trigeminal nerve disease) AnnotationAssertion(Annotation( "MESH:D020433"^^xsd:string) "Diseases of the trigeminal nerve or its nuclei, which are located in the pons and medulla. The nerve is composed of three divisions: ophthalmic, maxillary, and mandibular, which provide sensory innervation to structures of the face, sinuses, and portions of the cranial vault. The mandibular nerve also innervates muscles of mastication. Clinical features include loss of facial and intra-oral sensation and weakness of jaw closure. Common conditions affecting the nerve include brain stem ischemia, INFRATENTORIAL NEOPLASMS, and TRIGEMINAL NEURALGIA."^^xsd:string) AnnotationAssertion( "EFO:0009569"^^xsd:string) AnnotationAssertion( "ICD9CM:350.8"^^xsd:string) AnnotationAssertion( "MESH:D020433"^^xsd:string) AnnotationAssertion( "RDO:0006751"^^xsd:string) AnnotationAssertion( "Cranial Nerve V Diseases"^^xsd:string) AnnotationAssertion( "Fifth Cranial Nerve Diseases"^^xsd:string) AnnotationAssertion( "Idiopathic Trigeminal Neuropathies"^^xsd:string) AnnotationAssertion( "Idiopathic Trigeminal Neuropathy"^^xsd:string) AnnotationAssertion( "Raeder Paratrigeminal Syndrome"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Disorder"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Disorders"^^xsd:string) AnnotationAssertion( "Trigeminal Neuropathies"^^xsd:string) AnnotationAssertion( "Trigeminal Neuropathy"^^xsd:string) AnnotationAssertion( "trigeminal nerve diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:561"^^xsd:string) AnnotationAssertion(rdfs:label "trigeminal nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spinal_tumor"^^xsd:string) "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C72.0"^^xsd:string) AnnotationAssertion( "ICD9CM:192.2"^^xsd:string) AnnotationAssertion( "NCI:C168693"^^xsd:string) AnnotationAssertion( "NCI:C3381"^^xsd:string) AnnotationAssertion( "NCI:C3572"^^xsd:string) AnnotationAssertion( "intraspinal tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of the spinal cord"^^xsd:string) AnnotationAssertion( "spinal cord cancer"^^xsd:string) AnnotationAssertion( "tumor of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5612"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eye disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eye_disease"^^xsd:string) "An eye and adnexa disease that is located_in the eye. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003966"^^xsd:string) AnnotationAssertion( "ICD10CM:H44"^^xsd:string) AnnotationAssertion( "ICD9CM:379.90"^^xsd:string) AnnotationAssertion( "MESH:D005128"^^xsd:string) AnnotationAssertion( "NCI:C26767"^^xsd:string) AnnotationAssertion( "eye diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5614"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "eye disease"^^xsd:string) SubClassOf( ) # Class: (spinal canal intradural extramedullary neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5135"^^xsd:string) AnnotationAssertion( "RDO:9004690"^^xsd:string) AnnotationAssertion( "intradural extramedullary spinal tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5615"^^xsd:string) AnnotationAssertion(rdfs:label "spinal canal intradural extramedullary neoplasm"^^xsd:string) SubClassOf( ) # Class: (third cranial nerve disease) AnnotationAssertion(Annotation( "MESH:D015840"^^xsd:string) "Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)"^^xsd:string) AnnotationAssertion( "MESH:D015840"^^xsd:string) AnnotationAssertion( "NCI:C27598"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Disorder"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Palsies"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Palsy"^^xsd:string) AnnotationAssertion( "Oculomotor Neuropathies"^^xsd:string) AnnotationAssertion( "Oculomotor Neuropathy"^^xsd:string) AnnotationAssertion( "cranial nerve III diseases"^^xsd:string) AnnotationAssertion( "disorder of oculomotor nerve"^^xsd:string) AnnotationAssertion( "oculomotor nerve disease"^^xsd:string) AnnotationAssertion( "oculomotor nerve disorders"^^xsd:string) AnnotationAssertion( "third cranial nerve diseases"^^xsd:string) AnnotationAssertion( "third nerve palsy"^^xsd:string) AnnotationAssertion( "third nerve paralysis"^^xsd:string) AnnotationAssertion( "third-nerve palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:562"^^xsd:string) AnnotationAssertion(rdfs:label "third cranial nerve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (histiocytic and dendritic cell cancer) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/h9wrn7p72x26q035/"^^xsd:string) "A sarcoma and hematologic cancer that derives_from follicular lymphoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000297"^^xsd:string) AnnotationAssertion( "NCI:C9294"^^xsd:string) AnnotationAssertion( "histiocytic and dendritic cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5621"^^xsd:string) AnnotationAssertion(rdfs:label "histiocytic and dendritic cell cancer"^^xsd:string) SubClassOf( ) # Class: (adenosquamous breast carcinoma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/modpathol201082"^^xsd:string) "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40361"^^xsd:string) AnnotationAssertion( "RDO:9001799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5623"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosquamous bile duct carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A bile duct carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000247"^^xsd:string) AnnotationAssertion( "NCI:C5778"^^xsd:string) AnnotationAssertion( "RDO:9002881"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5624"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous bile duct carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophageal adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "An esophageal carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27421"^^xsd:string) AnnotationAssertion( "RDO:9002302"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5625"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A thymic carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6458"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5626"^^xsd:string) AnnotationAssertion(rdfs:label "thymus adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosquamous gallbladder carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A gallbladder carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000264"^^xsd:string) AnnotationAssertion( "NCI:C7356"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of gallbladder"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5627"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous gallbladder carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27418"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5628"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adenosquamous colon carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A colon carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000190"^^xsd:string) AnnotationAssertion( "NCI:C5491"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of colon"^^xsd:string) AnnotationAssertion( "colonic adenosquamous carcinoma"^^xsd:string) AnnotationAssertion( "Colorectal Adenosquamous Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5629"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous colon carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40296"^^xsd:string) AnnotationAssertion( "Bartholin gland adenosquamous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5630"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "An endometrial carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001952"^^xsd:string) AnnotationAssertion( "NCI:C114656"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of endometrium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5631"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (optic nerve sheath meningioma) AnnotationAssertion( "NCI:C4538"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254978007"^^xsd:string) "meningioma of optic nerve sheath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5632"^^xsd:string) AnnotationAssertion(rdfs:label "optic nerve sheath meningioma"^^xsd:string) SubClassOf( ) # Class: (adenosquamous prostate carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A prostate carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5538"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of prostate"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5634"^^xsd:string) AnnotationAssertion(rdfs:label "adenosquamous prostate carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric adenosquamous carcinoma) AnnotationAssertion( "EFO:1000029"^^xsd:string) AnnotationAssertion( "NCI:C5474"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5635"^^xsd:string) AnnotationAssertion(rdfs:label "gastric adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) "A cervical carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000162"^^xsd:string) AnnotationAssertion( "NCI:C4519"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of cervix"^^xsd:string) AnnotationAssertion( "adenosquamous cell carcinoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5636"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenosquamous_carcinoma"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24859531"^^xsd:string) "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006732"^^xsd:string) AnnotationAssertion( "NCI:C5721"^^xsd:string) AnnotationAssertion( "RDO:9002825"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5721"^^xsd:string) "Adenosquamous carcinoma of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenosquamous carcinoma of the pancreas"^^xsd:string) AnnotationAssertion( "DOID:5637"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic adenosquamous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant giant cell tumor of soft parts) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9251/3"^^xsd:string) AnnotationAssertion( "NCI:C8380"^^xsd:string) AnnotationAssertion( "malignant giant cell neoplasm of soft parts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5638"^^xsd:string) AnnotationAssertion(rdfs:label "malignant giant cell tumor of soft parts"^^xsd:string) SubClassOf( ) # Class: (rete testis neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39955"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5639"^^xsd:string) AnnotationAssertion(rdfs:label "rete testis neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse pulmonary fibrosis) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string) "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27216"^^xsd:string) AnnotationAssertion( "DIFFUSE INTERSTITIAL PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5641"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse pulmonary fibrosis"^^xsd:string) SubClassOf( ) # Class: (localized pulmonary fibrosis) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S0954611106004331"^^xsd:string) "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5642"^^xsd:string) AnnotationAssertion(rdfs:label "localized pulmonary fibrosis"^^xsd:string) SubClassOf( ) # Class: (urethral villous adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39872"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5643"^^xsd:string) AnnotationAssertion(rdfs:label "urethral villous adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tricuspid valve prolapse) AnnotationAssertion(Annotation( "MESH:D014263"^^xsd:string) "Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus."^^xsd:string) AnnotationAssertion( "EFO:1001218"^^xsd:string) AnnotationAssertion( "MESH:D014263"^^xsd:string) AnnotationAssertion( "Tricuspid Valve Prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5644"^^xsd:string) AnnotationAssertion(rdfs:label "tricuspid valve prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroid plexus carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string) "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8238"^^xsd:string) AnnotationAssertion( "ICDO:9390/3"^^xsd:string) AnnotationAssertion( "MESH:C562943"^^xsd:string) AnnotationAssertion( "NCI:C4533"^^xsd:string) AnnotationAssertion( "NCI:C4715"^^xsd:string) AnnotationAssertion( "cancer of choroid plexus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of choroid plexus"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the choroid plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "malignant tumor of choroid plexus"^^xsd:string) AnnotationAssertion( "DOID:5648"^^xsd:string) AnnotationAssertion(rdfs:label "choroid plexus carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bilateral hypoactive labyrinth) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.54"^^xsd:string) AnnotationAssertion( "hypoactive bilateral labyrinthine dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:565"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral hypoactive labyrinth"^^xsd:string) SubClassOf( ) # Class: (chiasmal syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Chiasmal_syndrome"^^xsd:string) "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.4"^^xsd:string) AnnotationAssertion( "ICD9CM:377.5"^^xsd:string) AnnotationAssertion( "MONDO:0003568"^^xsd:string) AnnotationAssertion( "chiasma syndrome"^^xsd:string) AnnotationAssertion( "disorder of optic chiasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5655"^^xsd:string) AnnotationAssertion(rdfs:label "chiasmal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cranial nerve disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cranial_nerve_disease"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68003389"^^xsd:string) "A neuropathy that is located_in one of the twelve cranial nerves. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:G52.9"^^xsd:string) AnnotationAssertion( "ICD9CM:352.9"^^xsd:string) AnnotationAssertion( "MESH:D003389"^^xsd:string) AnnotationAssertion( "NCI:C26733"^^xsd:string) AnnotationAssertion( "Cranial Nerve Disorder"^^xsd:string) AnnotationAssertion( "Cranial Neuropathies"^^xsd:string) AnnotationAssertion( "Cranial Neuropathy"^^xsd:string) AnnotationAssertion( "Multiple Cranial Neuropathies"^^xsd:string) AnnotationAssertion( "cranial nerve diseases"^^xsd:string) AnnotationAssertion( "cranial nerve disorders"^^xsd:string) AnnotationAssertion( "disorder of cranial nerve"^^xsd:string) AnnotationAssertion( "multiple cranial neuropathy"^^xsd:string) AnnotationAssertion( "nervus cranialis disorder"^^xsd:string) AnnotationAssertion( "nervus cranialis disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5656"^^xsd:string) AnnotationAssertion(rdfs:label "cranial nerve disease"^^xsd:string) SubClassOf( ) # Class: (lipid-rich carcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25789031"^^xsd:string) "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8314/3"^^xsd:string) AnnotationAssertion( "NCI:C4152"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5658"^^xsd:string) AnnotationAssertion(rdfs:label "lipid-rich carcinoma"^^xsd:string) SubClassOf( ) # Class: (labyrinthine dysfunction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H83.2"^^xsd:string) AnnotationAssertion( "ICD9CM:386.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:566"^^xsd:string) AnnotationAssertion(rdfs:label "labyrinthine dysfunction"^^xsd:string) SubClassOf( ) # Class: (lymphoepithelioma-like carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/"^^xsd:string) "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4107"^^xsd:string) AnnotationAssertion( "lymphoepithelial carcinoma"^^xsd:string) AnnotationAssertion( "nasopharyngeal type undifferentiated carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5660"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoepithelioma-like carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleomorphic carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35361152/"^^xsd:string) "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8022/3"^^xsd:string) AnnotationAssertion( "NCI:C4094"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5662"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic carcinoma"^^xsd:string) SubClassOf( ) # Class: (external ear cancer) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null"^^xsd:string) "An ear cancer that is located_in the external ear. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4653"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the external ear"^^xsd:string) AnnotationAssertion( "malignant tumor of external ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5665"^^xsd:string) AnnotationAssertion(rdfs:label "external ear cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sweat gland carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005591"^^xsd:string) AnnotationAssertion( "NCI:C6938"^^xsd:string) AnnotationAssertion( "carcinoma of the sweat gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5667"^^xsd:string) AnnotationAssertion(rdfs:label "sweat gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (comedo carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=44330"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188"^^xsd:string) "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C4188"^^xsd:string) AnnotationAssertion( "comedocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5670"^^xsd:string) AnnotationAssertion(rdfs:label "comedo carcinoma"^^xsd:string) SubClassOf( ) # Class: (large intestine cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Large_intestine"^^xsd:string) "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5672"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine cancer"^^xsd:string) SubClassOf( ) # Class: (cribriform carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24938660"^^xsd:string) "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000210"^^xsd:string) AnnotationAssertion( "ICDO:8201/3"^^xsd:string) AnnotationAssertion( "NCI:C3680"^^xsd:string) AnnotationAssertion( "ductal carcinoma, cribriform type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5675"^^xsd:string) AnnotationAssertion(rdfs:label "cribriform carcinoma"^^xsd:string) SubClassOf( ) # Class: (malignant extragonadal nonseminomatous germ cell tumor) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1"^^xsd:string) "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8885"^^xsd:string) AnnotationAssertion( "primary malignant extragonadal nonseminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5677"^^xsd:string) AnnotationAssertion(rdfs:label "malignant extragonadal nonseminomatous germ cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nerve fibre bundle defect) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.85"^^xsd:string) AnnotationAssertion( "retinal nerve fiber bundle defects"^^xsd:string) AnnotationAssertion( "retinal nerve fiber bundle deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5678"^^xsd:string) AnnotationAssertion(rdfs:label "nerve fibre bundle defect"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders"^^xsd:string) "An eye disease that is located_in the retina. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003839"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.9"^^xsd:string) AnnotationAssertion( "ICD9CM:362.9"^^xsd:string) AnnotationAssertion( "MESH:D012164"^^xsd:string) AnnotationAssertion( "NCI:C26875"^^xsd:string) AnnotationAssertion( "NCI:C62601"^^xsd:string) AnnotationAssertion( "retinal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5679"^^xsd:string) AnnotationAssertion(rdfs:label "retinal disease"^^xsd:string) SubClassOf( ) # Class: (embryonal testis carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma"^^xsd:string) "An embryonal carcinoma that is located_in the testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000565"^^xsd:string) AnnotationAssertion( "NCI:C6341"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of testis"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of the testis"^^xsd:string) AnnotationAssertion( "testicular embryonal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5680"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal testis carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian embryonal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma"^^xsd:string) "An embryonal carcinoma that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000415"^^xsd:string) AnnotationAssertion( "NCI:C8108"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of ovary"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5681"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian embryonal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary breast ovarian cancer syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1"^^xsd:string) Annotation( "https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1247/"^^xsd:string) "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. (DO)"^^xsd:string) AnnotationAssertion( "MIM:604370"^^xsd:string) AnnotationAssertion( "MIM:612555"^^xsd:string) AnnotationAssertion( "MIM:613399"^^xsd:string) AnnotationAssertion( "MIM:614291"^^xsd:string) AnnotationAssertion( "MIM:620442"^^xsd:string) AnnotationAssertion( "RAD51C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0002611"^^xsd:string) AnnotationAssertion( "MESH:D061325"^^xsd:string) AnnotationAssertion( "MIM:PS604370"^^xsd:string) AnnotationAssertion( "MONDO:0003582"^^xsd:string) AnnotationAssertion( "NCI:C8493"^^xsd:string) AnnotationAssertion( "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer"^^xsd:string) AnnotationAssertion( "BROVCA1"^^xsd:string) AnnotationAssertion( "BROVCA2"^^xsd:string) AnnotationAssertion( "BROVCA3"^^xsd:string) AnnotationAssertion( "BROVCA4"^^xsd:string) AnnotationAssertion( "BROVCA5"^^xsd:string) AnnotationAssertion( "Breast and Ovarian Cancer syndrome"^^xsd:string) AnnotationAssertion( "HBOC syndrome"^^xsd:string) AnnotationAssertion( "HBOC syndromes"^^xsd:string) AnnotationAssertion( "breast and/or ovarian cancer"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, 1"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, 2"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, 4"^^xsd:string) AnnotationAssertion( "hereditary breast and ovarian cancer"^^xsd:string) AnnotationAssertion( "hereditary breast and ovarian cancer syndrome"^^xsd:string) AnnotationAssertion( "GENETIC NON-ACQUIRED PREMATURE OVARIAN FAILURE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS"^^xsd:string) AnnotationAssertion( "DELETERIOUS RAD51D GENE MUTATION"^^xsd:string) AnnotationAssertion( "breast and ovarian cancer susceptibility"^^xsd:string) AnnotationAssertion( "familial breast cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "familial breast cancer, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "familial breast cancer, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "familial breast-ovarian cancer, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "familial ovarian cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "familial ovarian cancer, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "familial ovarian cancer, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:5683"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary breast ovarian cancer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (spondyloepimetaphyseal dysplasia, Sponastrime type) AnnotationAssertion(Annotation( "http://omim.org/entry/271510"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10797420"^^xsd:string) "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (DO)"^^xsd:string) AnnotationAssertion( "MIM:271510"^^xsd:string) AnnotationAssertion( "MESH:C535786"^^xsd:string) AnnotationAssertion( "NCI:C129031"^^xsd:string) AnnotationAssertion( "NCI:C92206"^^xsd:string) AnnotationAssertion( "Sponastrime dysplasia"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3034"^^xsd:string) "Spondylar and nasal Alterations-Striated Metaphyses syndrome"^^xsd:string) AnnotationAssertion( "Spondylar and nasal alterations with striated metaphyses"^^xsd:string) AnnotationAssertion( "TONSL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "skeletal dysplasia with extra-skeletal manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5684"^^xsd:string) AnnotationAssertion(rdfs:label "spondyloepimetaphyseal dysplasia, Sponastrime type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Werner syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Werner_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15946710"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9288107"^^xsd:string) "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277700"^^xsd:string) AnnotationAssertion( "GARD:7885"^^xsd:string) AnnotationAssertion( "MESH:D014898"^^xsd:string) AnnotationAssertion( "NCI:C3447"^^xsd:string) AnnotationAssertion( "ORDO:902"^^xsd:string) AnnotationAssertion( "WRN"^^xsd:string) AnnotationAssertion( "WS"^^xsd:string) AnnotationAssertion( "Werner's syndrome"^^xsd:string) AnnotationAssertion( "Werners syndrome"^^xsd:string) AnnotationAssertion( "adult premature ageing syndrome"^^xsd:string) AnnotationAssertion( "adult premature aging syndrome"^^xsd:string) AnnotationAssertion( "adult progeria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5688"^^xsd:string) AnnotationAssertion(rdfs:label "Werner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (well-differentiated liposarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26645460"^^xsd:string) "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000736"^^xsd:string) AnnotationAssertion( "EFO:1000099"^^xsd:string) AnnotationAssertion( "NCI:C176979"^^xsd:string) AnnotationAssertion( "ORDO:99971"^^xsd:string) AnnotationAssertion( "atypical lipomatous tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5690"^^xsd:string) AnnotationAssertion(rdfs:label "well-differentiated liposarcoma"^^xsd:string) SubClassOf( ) # Class: (visual cortex disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.6"^^xsd:string) AnnotationAssertion( "ICD9CM:377.7"^^xsd:string) AnnotationAssertion( "NCI:C35275"^^xsd:string) AnnotationAssertion( "visual cortex dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5691"^^xsd:string) AnnotationAssertion(rdfs:label "visual cortex disease"^^xsd:string) SubClassOf( ) # Class: (cellular myxoid liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003084"^^xsd:string) AnnotationAssertion( "NCI:C4252"^^xsd:string) AnnotationAssertion( "RDO:9004286"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:404070007"^^xsd:string) "Round cell liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5692"^^xsd:string) AnnotationAssertion(rdfs:label "cellular myxoid liposarcoma"^^xsd:string) SubClassOf( ) # Class: (adult liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7811"^^xsd:string) AnnotationAssertion( "RDO:9004287"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5693"^^xsd:string) AnnotationAssertion(rdfs:label "adult liposarcoma"^^xsd:string) SubClassOf( ) # Class: (esophagus liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5705"^^xsd:string) AnnotationAssertion( "liposarcoma of esophagus"^^xsd:string) AnnotationAssertion( "liposarcoma of oesophagus"^^xsd:string) AnnotationAssertion( "oesophagus liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5694"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8850/3"^^xsd:string) AnnotationAssertion( "NCI:C8091"^^xsd:string) AnnotationAssertion( "pediatric liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5695"^^xsd:string) AnnotationAssertion(rdfs:label "childhood liposarcoma"^^xsd:string) SubClassOf( ) # Class: (larynx liposarcoma) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/k571r5t8637pg5p5/"^^xsd:string) "A liposarcoma that is located_in the larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6021"^^xsd:string) AnnotationAssertion( "liposarcoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5696"^^xsd:string) AnnotationAssertion(rdfs:label "larynx liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (liposarcoma of the ovary) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32656967/"^^xsd:string) "An ovary sarcoma that arises from fatty tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6419"^^xsd:string) AnnotationAssertion( "liposarcoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5697"^^xsd:string) AnnotationAssertion(rdfs:label "liposarcoma of the ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fibroblastic liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8857/3"^^xsd:string) AnnotationAssertion( "NCI:C6509"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5698"^^xsd:string) AnnotationAssertion(rdfs:label "fibroblastic liposarcoma"^^xsd:string) SubClassOf( ) # Class: (kidney liposarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15689251"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30050631"^^xsd:string) "A liposarcoma that is located_in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003591"^^xsd:string) AnnotationAssertion( "NCI:C6185"^^xsd:string) AnnotationAssertion( "liposarcoma of kidney"^^xsd:string) AnnotationAssertion( "renal liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5699"^^xsd:string) AnnotationAssertion(rdfs:label "kidney liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortic valve insufficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aortic_insufficiency"^^xsd:string) "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007148"^^xsd:string) AnnotationAssertion( "ICD10CM:I06.1"^^xsd:string) AnnotationAssertion( "ICD9CM:395.1"^^xsd:string) AnnotationAssertion( "MESH:D001022"^^xsd:string) AnnotationAssertion( "NCI:C50861"^^xsd:string) AnnotationAssertion( "NCI:C51223"^^xsd:string) AnnotationAssertion( "Aortic Regurgitation"^^xsd:string) AnnotationAssertion( "Aortic Valve Incompetence"^^xsd:string) AnnotationAssertion( "Corrigan's disease"^^xsd:string) AnnotationAssertion( "aortic incompetence"^^xsd:string) AnnotationAssertion( "aortic insufficiency"^^xsd:string) AnnotationAssertion( "aortic valve regurgitation"^^xsd:string) AnnotationAssertion( "rheumatic aortic insufficiency"^^xsd:string) AnnotationAssertion( "rheumatic aortic regurgitation"^^xsd:string) AnnotationAssertion( "rheumatic aortic valve insufficiency"^^xsd:string) AnnotationAssertion( "rheumatic aortic valve regurgitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:57"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve insufficiency"^^xsd:string) SubClassOf( ) # Class: (gastric liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5488"^^xsd:string) AnnotationAssertion( "liposarcoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5700"^^xsd:string) AnnotationAssertion(rdfs:label "gastric liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast liposarcoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma"^^xsd:string) "A breast sarcoma that arises from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5187"^^xsd:string) AnnotationAssertion( "RDO:9004331"^^xsd:string) AnnotationAssertion( "liposarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5701"^^xsd:string) AnnotationAssertion(rdfs:label "breast liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pleomorphic liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003083"^^xsd:string) AnnotationAssertion( "ICDO:8854/3"^^xsd:string) AnnotationAssertion( "NCI:C3705"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5702"^^xsd:string) AnnotationAssertion(rdfs:label "pleomorphic liposarcoma"^^xsd:string) SubClassOf( ) # Class: (mixed liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8855/3"^^xsd:string) AnnotationAssertion( "NCI:C4253"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5703"^^xsd:string) AnnotationAssertion(rdfs:label "mixed liposarcoma"^^xsd:string) SubClassOf( ) # Class: (sclerosing liposarcoma) AnnotationAssertion( "NCI:C6507"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5704"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing liposarcoma"^^xsd:string) SubClassOf( ) # Class: (spindle cell liposarcoma) AnnotationAssertion( "NCI:C27489"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5705"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell liposarcoma"^^xsd:string) SubClassOf( ) # Class: (mixed-type liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5709"^^xsd:string) AnnotationAssertion(rdfs:label "mixed-type liposarcoma"^^xsd:string) SubClassOf( ) # Class: (median neuropathy) AnnotationAssertion(Annotation( "MESH:D020423"^^xsd:string) "Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)."^^xsd:string) AnnotationAssertion( "EFO:0020031"^^xsd:string) AnnotationAssertion( "ICD10CM:G56.10"^^xsd:string) AnnotationAssertion( "ICD9CM:354.1"^^xsd:string) AnnotationAssertion( "MESH:D020423"^^xsd:string) AnnotationAssertion( "Distal Medial Neuropathies"^^xsd:string) AnnotationAssertion( "Distal Medial Neuropathy"^^xsd:string) AnnotationAssertion( "MONONEUROPATHY OF THE MEDIAN NERVE"^^xsd:string) AnnotationAssertion( "Median Nerve Disease"^^xsd:string) AnnotationAssertion( "Median Nerve Diseases"^^xsd:string) AnnotationAssertion( "Median Nerve Neuralgia"^^xsd:string) AnnotationAssertion( "Median Nerve Neuralgias"^^xsd:string) AnnotationAssertion( "Median Neuropathies"^^xsd:string) AnnotationAssertion( "Proximal Median Neuropathies"^^xsd:string) AnnotationAssertion( "Proximal Median Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:571"^^xsd:string) AnnotationAssertion(rdfs:label "median neuropathy"^^xsd:string) SubClassOf( ) # Class: (vulvar liposarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25469348"^^xsd:string) "A vulvar sarcoma that has_material_basis_in adipocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40321"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5711"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5615"^^xsd:string) AnnotationAssertion( "liposarcoma of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5712"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mediastinum liposarcoma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/"^^xsd:string) "A liposarcoma that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6614"^^xsd:string) AnnotationAssertion( "liposarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5713"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracranial liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6973"^^xsd:string) AnnotationAssertion( "RDO:9004342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5714"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial liposarcoma"^^xsd:string) SubClassOf( ) # Class: (functionless pituitary adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008516"^^xsd:string) AnnotationAssertion( "NCI:C4348"^^xsd:string) AnnotationAssertion( "Non-Functioning neoplasm of the Pituitary"^^xsd:string) AnnotationAssertion( "Non-Secretory adenoma of the Pituitary gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5715"^^xsd:string) AnnotationAssertion(rdfs:label "functionless pituitary adenoma"^^xsd:string) SubClassOf( ) # Class: (hormone producing pituitary cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "growth hormone producing pituitary tumor"^^xsd:string) AnnotationAssertion( "hormone producing pituitary tumors"^^xsd:string) AnnotationAssertion( "somatotropinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5716"^^xsd:string) AnnotationAssertion(rdfs:label "hormone producing pituitary cancer"^^xsd:string) SubClassOf( ) # Class: (adrenal neuroblastoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/types/neuroblastoma"^^xsd:string) "An adrenal gland cancer that derives_from immature neuroblastic cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000075"^^xsd:string) AnnotationAssertion( "NCI:C4827"^^xsd:string) AnnotationAssertion( "RDO:9002795"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4827"^^xsd:string) "neuroblastoma of Adrenal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5718"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal medulla cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla"^^xsd:string) "An adrenal gland cancer that is located_in the adrenal medulla. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5755"^^xsd:string) AnnotationAssertion( "ICD10CM:C74.1"^^xsd:string) AnnotationAssertion( "NCI:C4396"^^xsd:string) AnnotationAssertion( "NCI:C4856"^^xsd:string) AnnotationAssertion( "adrenal medulla neoplasm"^^xsd:string) AnnotationAssertion( "adrenal medulla tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of adrenal medulla"^^xsd:string) AnnotationAssertion( "malignant tumor of the adrenal medulla"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5719"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal medulla cancer"^^xsd:string) SubClassOf( ) # Class: (mononeuritis of upper limb and mononeuritis multiplex) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:354"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:572"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuritis of upper limb and mononeuritis multiplex"^^xsd:string) SubClassOf( ) # Class: (optic atrophy) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Optic_Atrophy"^^xsd:string) "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.2"^^xsd:string) AnnotationAssertion( "ICD9CM:377.1"^^xsd:string) AnnotationAssertion( "MESH:D009896"^^xsd:string) AnnotationAssertion( "MIM:PS165500"^^xsd:string) AnnotationAssertion( "MONDO:0003608"^^xsd:string) AnnotationAssertion( "NCI:C34863"^^xsd:string) AnnotationAssertion( "ORDO:98673"^^xsd:string) AnnotationAssertion( "atrophy of optic disc"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5723"^^xsd:string) AnnotationAssertion(rdfs:label "optic atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seminal vesicle cystadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/"^^xsd:string) "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39907"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5724"^^xsd:string) AnnotationAssertion(rdfs:label "seminal vesicle cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rete ovarii cystadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2852648"^^xsd:string) "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003610"^^xsd:string) AnnotationAssertion( "NCI:C40019"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5725"^^xsd:string) AnnotationAssertion(rdfs:label "rete ovarii cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22296276"^^xsd:string) "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40142"^^xsd:string) AnnotationAssertion( "uterine ligament papillary cystadenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5726"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease"^^xsd:string) SubClassOf( ) # Class: (uterine ligament cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/"^^xsd:string) "A uterine cancer that is located_in the ligaments that support the uterus. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40133"^^xsd:string) AnnotationAssertion( "tumor of the uterine ligament"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5727"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament cancer"^^xsd:string) SubClassOf( ) # Class: (diffuse peritoneal leiomyomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23815223"^^xsd:string) "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000220"^^xsd:string) AnnotationAssertion( "GARD:12843"^^xsd:string) AnnotationAssertion( "NCI:C3958"^^xsd:string) AnnotationAssertion( "RDO:9004468"^^xsd:string) AnnotationAssertion( "Disseminated Peritoneal Leiomyomatosis"^^xsd:string) AnnotationAssertion( "LPD"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:62557001"^^xsd:string) "leiomyomatosis peritonealis disseminata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5728"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse peritoneal leiomyomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intravenous leiomyomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/"^^xsd:string) "A leiomyomatosis that is located within the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10802"^^xsd:string) AnnotationAssertion( "NCI:C4518"^^xsd:string) AnnotationAssertion( "NCI:C5356"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5729"^^xsd:string) AnnotationAssertion(rdfs:label "intravenous leiomyomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nerve compression syndrome) AnnotationAssertion(Annotation( "MESH:D009408"^^xsd:string) "Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect."^^xsd:string) AnnotationAssertion( "EFO:0009487"^^xsd:string) AnnotationAssertion( "MESH:D009408"^^xsd:string) AnnotationAssertion( "NCI:C27221"^^xsd:string) AnnotationAssertion( "External Nerve Compression Syndromes"^^xsd:string) AnnotationAssertion( "Internal Nerve Compression Syndromes"^^xsd:string) AnnotationAssertion( "Nerve Entrapment"^^xsd:string) AnnotationAssertion( "entrapment neuropathies"^^xsd:string) AnnotationAssertion( "entrapment neuropathy"^^xsd:string) AnnotationAssertion( "nerve compression syndromes"^^xsd:string) AnnotationAssertion( "nerve entrapments"^^xsd:string) AnnotationAssertion( "peripheral nerve entrapment syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:573"^^xsd:string) AnnotationAssertion(rdfs:label "nerve compression syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (salpingitis isthmica nodosa) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa"^^xsd:string) "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40119"^^xsd:string) AnnotationAssertion( "RDO:9003157"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5730"^^xsd:string) AnnotationAssertion(rdfs:label "salpingitis isthmica nodosa"^^xsd:string) SubClassOf( ) # Class: (chronic salpingitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.11"^^xsd:string) AnnotationAssertion( "NCI:C40118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5731"^^xsd:string) AnnotationAssertion(rdfs:label "chronic salpingitis"^^xsd:string) SubClassOf( ) # Class: (pyosalpinx) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C34968"^^xsd:string) AnnotationAssertion( "pyosalpingitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5732"^^xsd:string) AnnotationAssertion(rdfs:label "pyosalpinx"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (salpingitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Salpingitis"^^xsd:string) "A fallopian tube disease that is characterized by inflammation of the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N70.91"^^xsd:string) AnnotationAssertion( "MESH:D012488"^^xsd:string) AnnotationAssertion( "NCI:C26880"^^xsd:string) AnnotationAssertion( "salpingitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5733"^^xsd:string) AnnotationAssertion(rdfs:label "salpingitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral nervous system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no"^^xsd:string) "A nervous system disease that affects the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010523"^^xsd:string) AnnotationAssertion( "NCI:C119734"^^xsd:string) AnnotationAssertion( "NCI:C27580"^^xsd:string) AnnotationAssertion( "NCI:C27587"^^xsd:string) AnnotationAssertion( "PNS (peripheral nervous system) diseases"^^xsd:string) AnnotationAssertion( "PNS Disease"^^xsd:string) AnnotationAssertion( "PNS Diseases"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Disease"^^xsd:string) AnnotationAssertion( "Peripheral Nervous System Disorders"^^xsd:string) AnnotationAssertion( "Peripheral Neuropathies"^^xsd:string) AnnotationAssertion( "Peripheral Neuropathy"^^xsd:string) AnnotationAssertion( "peripheral nerve diseases"^^xsd:string) AnnotationAssertion( "peripheral nervous system diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:574"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nervous system disease"^^xsd:string) SubClassOf( ) # Class: (small intestinal vasoactive intestinal peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27455"^^xsd:string) AnnotationAssertion( "small intestinal VIP producing tumor"^^xsd:string) AnnotationAssertion( "small intestinal VIP producing tumour"^^xsd:string) AnnotationAssertion( "small intestinal vasoactive intestinal peptide producing tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5740"^^xsd:string) AnnotationAssertion(rdfs:label "small intestinal vasoactive intestinal peptide producing tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic vasoactive intestinal peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000445"^^xsd:string) AnnotationAssertion( "NCI:C27454"^^xsd:string) AnnotationAssertion( "NCI:C95599"^^xsd:string) AnnotationAssertion( "pancreatic VIP Producing tumor"^^xsd:string) AnnotationAssertion( "pancreatic VIP Producing tumour"^^xsd:string) AnnotationAssertion( "pancreatic vasoactive intestinal peptide producing tumour"^^xsd:string) AnnotationAssertion( "pancreatic vipoma"^^xsd:string) AnnotationAssertion( "pancreatic vipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5741"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic vasoactive intestinal peptide producing tumor"^^xsd:string) SubClassOf( ) # Class: (pancreatic acinar cell adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas"^^xsd:string) Annotation( "http://www.pathologyoutlines.com/topic/pancreasacinar.html"^^xsd:string) "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000439"^^xsd:string) AnnotationAssertion( "NCI:C7977"^^xsd:string) AnnotationAssertion( "RDO:9002952"^^xsd:string) AnnotationAssertion( "pancreatic acinar cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5742"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic acinar cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acinic cell breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/"^^xsd:string) "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40367"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5743"^^xsd:string) AnnotationAssertion(rdfs:label "acinic cell breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovary serous adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Serous_carcinoma"^^xsd:string) "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002917"^^xsd:string) AnnotationAssertion( "EFO:1000427"^^xsd:string) AnnotationAssertion( "EFO:1001958"^^xsd:string) AnnotationAssertion( "NCI:C40025"^^xsd:string) AnnotationAssertion( "NCI:C7550"^^xsd:string) AnnotationAssertion( "malignant ovarian serous tumor"^^xsd:string) AnnotationAssertion( "serous carcinoma of ovary"^^xsd:string) AnnotationAssertion( "OVARIAN SEROUS SURFACE PAPILLARY ADENOCARCINOMA"^^xsd:string) AnnotationAssertion( "Ovarian Serous Adenocarcinofibroma"^^xsd:string) AnnotationAssertion( "PRIMARY LOW GRADE SEROUS ADENOCARCINOMA OF OVARY"^^xsd:string) AnnotationAssertion( "high grade ovarian serous adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5744"^^xsd:string) AnnotationAssertion(rdfs:label "ovary serous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian serous cystadenocarcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/ovarian"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma"^^xsd:string) "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000043"^^xsd:string) AnnotationAssertion( "NCI:C7978"^^xsd:string) AnnotationAssertion( "serous cystadenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5746"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian serous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine ligament serous adenocarcinoma) AnnotationAssertion(Annotation( "https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690"^^xsd:string) "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40136"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5747"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament serous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (rheumatic pulmonary valve disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I09.89"^^xsd:string) AnnotationAssertion( "ICD9CM:397.1"^^xsd:string) AnnotationAssertion( "rheumatic disease of pulmonary valve"^^xsd:string) AnnotationAssertion( "rheumatic pulmonary incompetence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5748"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic pulmonary valve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary valve disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009564"^^xsd:string) AnnotationAssertion( "ICD9CM:424.3"^^xsd:string) AnnotationAssertion( "NCI:C78579"^^xsd:string) AnnotationAssertion( "pulmonary valve disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5749"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary valve disease"^^xsd:string) SubClassOf( ) # Class: (endometrial serous adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Uterine_serous_carcinoma"^^xsd:string) "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000238"^^xsd:string) AnnotationAssertion( "NCI:C27838"^^xsd:string) AnnotationAssertion( "PAPILLARY CARCINOMA OF THE CORPUS UTERI"^^xsd:string) AnnotationAssertion( "Type 2 endometrial carcinoma"^^xsd:string) AnnotationAssertion( "Type II endometrial cancer"^^xsd:string) AnnotationAssertion( "UPSC"^^xsd:string) AnnotationAssertion( "type 2 endometrial cancer"^^xsd:string) AnnotationAssertion( "type II endometrial carcinoma"^^xsd:string) AnnotationAssertion( "uterine corpus serous adenocarcinoma"^^xsd:string) AnnotationAssertion( "uterine papillary serous carcinoma"^^xsd:string) AnnotationAssertion( "uterine serous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5750"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial serous adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic serous cystadenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma"^^xsd:string) "A serous cystadenocarcinoma that is located_in the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5724"^^xsd:string) AnnotationAssertion( "serous cystadenocarcinoma of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5751"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic serous cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical serous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25370301"^^xsd:string) "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40201"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5752"^^xsd:string) AnnotationAssertion(rdfs:label "cervical serous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (endocervicitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23134447"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29370498"^^xsd:string) "A cervicitis that is located_in the endocervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C26762"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5757"^^xsd:string) AnnotationAssertion(rdfs:label "endocervicitis"^^xsd:string) SubClassOf( ) # Class: (malignant mesenchymoma) AnnotationAssertion( "RDO:0000960"^^xsd:string) AnnotationAssertion( "GARD:3369"^^xsd:string) AnnotationAssertion( "MESH:C535700"^^xsd:string) AnnotationAssertion( "NCI:C4268"^^xsd:string) AnnotationAssertion( "Malignant Mesenchymal Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5758"^^xsd:string) AnnotationAssertion(rdfs:label "malignant mesenchymoma"^^xsd:string) SubClassOf( ) # Class: (sebaceous gland neoplasm) AnnotationAssertion(Annotation( "MESH:D012626"^^xsd:string) "New abnormal growth of tissue in the SEBACEOUS GLANDS."^^xsd:string) AnnotationAssertion( "EFO:1001172"^^xsd:string) AnnotationAssertion( "MESH:D012626"^^xsd:string) AnnotationAssertion( "NCI:C3363"^^xsd:string) AnnotationAssertion( "RDO:0006549"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3363"^^xsd:string) "Sebaceous neoplasm"^^xsd:string) AnnotationAssertion( "sebaceous gland neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5759"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous gland neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proteinuria) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Proteinuria"^^xsd:string) "A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:R80"^^xsd:string) AnnotationAssertion( "ICD9CM:791.0"^^xsd:string) AnnotationAssertion( "MESH:D011507"^^xsd:string) AnnotationAssertion( "NCI:C38012"^^xsd:string) AnnotationAssertion( "proteinurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:576"^^xsd:string) AnnotationAssertion(rdfs:label "proteinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sebaceous breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/"^^xsd:string) "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40369"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5760"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (vulvar sebaceous carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10535578"^^xsd:string) "A vulva carcinoma that is characterized by the presence of sebaceous secretions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5761"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar sebaceous carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung clear cell-sugar-tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C38152"^^xsd:string) AnnotationAssertion( "RDO:9002003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5763"^^xsd:string) AnnotationAssertion(rdfs:label "lung clear cell-sugar-tumor"^^xsd:string) SubClassOf( ) # Class: (lung meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5276"^^xsd:string) AnnotationAssertion( "NCI:C5668"^^xsd:string) AnnotationAssertion( "lung primary meningioma"^^xsd:string) AnnotationAssertion( "primary pulmonary meningioma"^^xsd:string) AnnotationAssertion( "pulmonary meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5764"^^xsd:string) AnnotationAssertion(rdfs:label "lung meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pulmonary sclerosing hemangioma) AnnotationAssertion(Annotation( "MESH:D047868"^^xsd:string) "A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA."^^xsd:string) AnnotationAssertion( "EFO:1000337"^^xsd:string) AnnotationAssertion( "EFO:1001136"^^xsd:string) AnnotationAssertion( "MESH:D047868"^^xsd:string) AnnotationAssertion( "NCI:C5656"^^xsd:string) AnnotationAssertion( "lung sclerosing hemangioma"^^xsd:string) AnnotationAssertion( "lung sclerosing hemangiomas"^^xsd:string) AnnotationAssertion( "pneumocytoma"^^xsd:string) AnnotationAssertion( "pulmonary sclerosing hemangiomas"^^xsd:string) AnnotationAssertion( "sclerosing hemangioma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5766"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary sclerosing hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hilar lung neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5671"^^xsd:string) AnnotationAssertion( "RDO:9002005"^^xsd:string) AnnotationAssertion( "lung Hilum tumor"^^xsd:string) AnnotationAssertion( "neoplasm of hilus of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5767"^^xsd:string) AnnotationAssertion(rdfs:label "hilar lung neoplasm"^^xsd:string) SubClassOf( ) # Class: (Nager acrofacial dysostosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/nager-syndrome"^^xsd:string) Annotation( "https://www.faces-cranio.org/nager"^^xsd:string) "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. (DO)"^^xsd:string) AnnotationAssertion( "MIM:154400"^^xsd:string) AnnotationAssertion( "GARD:498"^^xsd:string) AnnotationAssertion( "MESH:C538184"^^xsd:string) AnnotationAssertion( "NCI:C35795"^^xsd:string) AnnotationAssertion( "AFD"^^xsd:string) AnnotationAssertion( "AFD, Nager type"^^xsd:string) AnnotationAssertion( "AFD1"^^xsd:string) AnnotationAssertion( "Acrofacial Dysostosis 1, Nager Type"^^xsd:string) AnnotationAssertion( "Acrofacial Dysostosis, Nager Type"^^xsd:string) AnnotationAssertion( "Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies"^^xsd:string) AnnotationAssertion( "Nager Acrofacial Dysostosis Syndrome"^^xsd:string) AnnotationAssertion( "Nager syndrome"^^xsd:string) AnnotationAssertion( "preaxial acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "preaxial mandibulofacial dysostosis"^^xsd:string) AnnotationAssertion( "preaxial manibulofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5768"^^xsd:string) AnnotationAssertion(rdfs:label "Nager acrofacial dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (verruciform xanthoma of skin) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4478"^^xsd:string) AnnotationAssertion( "cutaneous Verruciform Xanthoma"^^xsd:string) AnnotationAssertion( "verruciform xanthoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5769"^^xsd:string) AnnotationAssertion(rdfs:label "verruciform xanthoma of skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system hematologic cancer) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors"^^xsd:string) "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5503"^^xsd:string) AnnotationAssertion( "CNS hematopoietic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hematopoietic neoplasm of central nervous system"^^xsd:string) AnnotationAssertion( "DOID:5772"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system hematologic cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral submucous fibrosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Oral_submucous_fibrosis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/"^^xsd:string) "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001818"^^xsd:string) AnnotationAssertion( "GARD:7264"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.5"^^xsd:string) AnnotationAssertion( "ICD9CM:528.8"^^xsd:string) AnnotationAssertion( "MESH:D009914"^^xsd:string) AnnotationAssertion( "NCI:C34866"^^xsd:string) AnnotationAssertion( "Oral Submucous Fibroses"^^xsd:string) AnnotationAssertion( "Oral cavity Submucous Fibrosis"^^xsd:string) AnnotationAssertion( "oral submucosal fibrosis"^^xsd:string) AnnotationAssertion( "oral submucosal fibrosis, including of tongue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5773"^^xsd:string) AnnotationAssertion(rdfs:label "oral submucous fibrosis"^^xsd:string) SubClassOf( ) # Class: (giant hemangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27777"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5774"^^xsd:string) AnnotationAssertion(rdfs:label "giant hemangioma"^^xsd:string) SubClassOf( ) # Class: (cavernous hemangioma of colon) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5395"^^xsd:string) AnnotationAssertion( "RDO:9004570"^^xsd:string) AnnotationAssertion( "colonic cavernous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5775"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous hemangioma of colon"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cavernous hemangioma of face) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000152"^^xsd:string) AnnotationAssertion( "NCI:C7053"^^xsd:string) AnnotationAssertion( "RDO:9004571"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5776"^^xsd:string) AnnotationAssertion(rdfs:label "cavernous hemangioma of face"^^xsd:string) SubClassOf( ) # Class: (rectum neuroendocrine neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5698"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5777"^^xsd:string) AnnotationAssertion(rdfs:label "rectum neuroendocrine neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrophic flaccid tympanic membrane) AnnotationAssertion( "ICD10CM:H73.81"^^xsd:string) AnnotationAssertion( "ICD9CM:384.81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5781"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic flaccid tympanic membrane"^^xsd:string) SubClassOf( ) # Class: (tympanic membrane disease) AnnotationAssertion( "EFO:0009570"^^xsd:string) AnnotationAssertion( "ICD10CM:H73.9"^^xsd:string) AnnotationAssertion( "ICD9CM:384.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5782"^^xsd:string) AnnotationAssertion(rdfs:label "tympanic membrane disease"^^xsd:string) SubClassOf( ) # Class: (esophageal neuroendocrine tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5821"^^xsd:string) AnnotationAssertion( "esophageal neuroendocrine tumour"^^xsd:string) AnnotationAssertion( "neuroendocrine tumor of esophagus"^^xsd:string) AnnotationAssertion( "neuroendocrine tumour of oesophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5784"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal neuroendocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed hepatoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7097"^^xsd:string) AnnotationAssertion( "RDO:9004067"^^xsd:string) AnnotationAssertion( "mixed epithelial and mesenchymal hepatoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5789"^^xsd:string) AnnotationAssertion(rdfs:label "mixed hepatoblastoma"^^xsd:string) SubClassOf( ) # Class: (macrotrabecular hepatoblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7095"^^xsd:string) AnnotationAssertion( "RDO:9004068"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5798"^^xsd:string) AnnotationAssertion(rdfs:label "macrotrabecular hepatoblastoma"^^xsd:string) SubClassOf( ) # Class: (uric acid nephrolithiasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/"^^xsd:string) "A nephrolithiasis that is characterized by stones composed predominantly uric acid. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605990"^^xsd:string) AnnotationAssertion( "ICD9CM:274.11"^^xsd:string) AnnotationAssertion( "NCI:C123037"^^xsd:string) AnnotationAssertion( "NCI:C123245"^^xsd:string) AnnotationAssertion( "acute urate nephropathy"^^xsd:string) AnnotationAssertion( "urate nephropathy"^^xsd:string) AnnotationAssertion( "uric acid nephropathy"^^xsd:string) AnnotationAssertion( "uric acid urolithiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute uric acid nephropathy"^^xsd:string) AnnotationAssertion( "chronic urate nephropathy"^^xsd:string) AnnotationAssertion( "uric acid nephrolithiasis, susceptibility to"^^xsd:string) AnnotationAssertion( "uric acid urolithiasis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:580"^^xsd:string) AnnotationAssertion(rdfs:label "uric acid nephrolithiasis"^^xsd:string) SubClassOf( ) # Class: (discrete subaortic stenosis) AnnotationAssertion(Annotation( "MESH:D021922"^^xsd:string) "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA."^^xsd:string) AnnotationAssertion( "EFO:1000901"^^xsd:string) AnnotationAssertion( "MESH:D021922"^^xsd:string) AnnotationAssertion( "Discrete Subaortic Stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5804"^^xsd:string) AnnotationAssertion(rdfs:label "discrete subaortic stenosis"^^xsd:string) SubClassOf( ) # Class: (subvalvular aortic stenosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26731888"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29377232"^^xsd:string) "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001199"^^xsd:string) AnnotationAssertion( "GARD:5052"^^xsd:string) AnnotationAssertion( "MESH:D001020"^^xsd:string) AnnotationAssertion( "NCI:C85172"^^xsd:string) AnnotationAssertion( "aortic subvalvular stenoses"^^xsd:string) AnnotationAssertion( "subaortic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5805"^^xsd:string) AnnotationAssertion(rdfs:label "subvalvular aortic stenosis"^^xsd:string) SubClassOf( ) # Class: (stork bite) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:163100"^^xsd:string) AnnotationAssertion( "RDO:0015583"^^xsd:string) AnnotationAssertion( "RDO:9004510"^^xsd:string) AnnotationAssertion( "MESH:C567524"^^xsd:string) AnnotationAssertion( "Unna Nevus"^^xsd:string) AnnotationAssertion( "Unna's nevus"^^xsd:string) AnnotationAssertion( "erythema nuchae"^^xsd:string) AnnotationAssertion( "nevus flammeus of nape and neck"^^xsd:string) AnnotationAssertion( "salmon patch nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5806"^^xsd:string) AnnotationAssertion(rdfs:label "stork bite"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood parosteal osteogenic sarcoma) AnnotationAssertion( "ICD-O:M9180/3"^^xsd:string) AnnotationAssertion( "NCI:C6589"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5809"^^xsd:string) AnnotationAssertion(rdfs:label "childhood parosteal osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (adenosine deaminase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2166947/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/2783588/"^^xsd:string) "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (DO)"^^xsd:string) AnnotationAssertion( "MIM:102700"^^xsd:string) AnnotationAssertion( "EFO:0009147"^^xsd:string) AnnotationAssertion( "GARD:5748"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.30"^^xsd:string) AnnotationAssertion( "MESH:C531816"^^xsd:string) AnnotationAssertion( "NCI:C3962"^^xsd:string) AnnotationAssertion( "ADA"^^xsd:string) AnnotationAssertion( "ADA deficiency"^^xsd:string) AnnotationAssertion( "ADA-SCID"^^xsd:string) AnnotationAssertion( "Bubble boy disease"^^xsd:string) AnnotationAssertion( "Delayed-Late-Onset Adenosine Deaminase Deficiency"^^xsd:string) AnnotationAssertion( "SCID Due to ADA Deficiency, Delayed Onset"^^xsd:string) AnnotationAssertion( "SCID Due to ADA Deficiency, Early-Onset"^^xsd:string) AnnotationAssertion( "SCID due to ADA deficiency"^^xsd:string) AnnotationAssertion( "SCID1"^^xsd:string) AnnotationAssertion( "adenosine deaminase deficient severe combined immunodeficiency"^^xsd:string) AnnotationAssertion( "adenosine deaminase-deficient severe combined immunodeficiency disease"^^xsd:string) AnnotationAssertion( "agammaglobulinemia, Swiss type"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to ADA deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency due to adenosine deaminase deficiency"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, alymphocytotic type"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-negative, due to adenosine deaminase deficiency"^^xsd:string) AnnotationAssertion( "PARTIAL ADA DEFICIENCY"^^xsd:string) AnnotationAssertion( "SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET"^^xsd:string) AnnotationAssertion( "SCID DUE TO ADA DEFICIENCY, LATE-ONSET"^^xsd:string) AnnotationAssertion( "partial adenosine deaminase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5810"^^xsd:string) AnnotationAssertion(rdfs:label "adenosine deaminase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MHC class II deficiency) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii"^^xsd:string) Annotation( "https://www.omim.org/entry/209920"^^xsd:string) "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:209920"^^xsd:string) AnnotationAssertion( "RDO:0002851"^^xsd:string) AnnotationAssertion( "RDO:0014424"^^xsd:string) AnnotationAssertion( "RDO:9002914"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.6"^^xsd:string) AnnotationAssertion( "MESH:C537079"^^xsd:string) AnnotationAssertion( "MESH:C565910"^^xsd:string) AnnotationAssertion( "NCI:C171268"^^xsd:string) AnnotationAssertion( "NCI:C3895"^^xsd:string) AnnotationAssertion( "BLS"^^xsd:string) AnnotationAssertion( "BLS Type II"^^xsd:string) AnnotationAssertion( "BLSII"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome Type 2, Complementation Group A"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome Type 2, Complementation Group E"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome, Type II, Complementation Group A"^^xsd:string) AnnotationAssertion( "Bare lymphocyte syndrome type 2"^^xsd:string) AnnotationAssertion( "SCID due to absent class II HLA antigens"^^xsd:string) AnnotationAssertion( "SCID, HLA class 2-negative"^^xsd:string) AnnotationAssertion( "SCID, HLA class II-negative"^^xsd:string) AnnotationAssertion( "bare lymphocyte syndrome 2"^^xsd:string) AnnotationAssertion( "bare lymphocyte syndrome type II"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency, HLA class II-negative"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5812"^^xsd:string) AnnotationAssertion(rdfs:label "MHC class II deficiency"^^xsd:string) SubClassOf( ) # Class: (purine nucleoside phosphorylase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/1384322/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/3029074/"^^xsd:string) "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613179"^^xsd:string) AnnotationAssertion( "GARD:4606"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.5"^^xsd:string) AnnotationAssertion( "MESH:C562587"^^xsd:string) AnnotationAssertion( "NCI:C176817"^^xsd:string) AnnotationAssertion( "NCI:C3963"^^xsd:string) AnnotationAssertion( "ORDO:760"^^xsd:string) AnnotationAssertion( "PNP deficiency"^^xsd:string) AnnotationAssertion( "deficiency of inosine phosphorylase"^^xsd:string) AnnotationAssertion( "nucleoside phosphorylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "nucleoside phosphorylase polymorphism"^^xsd:string) AnnotationAssertion( "DOID:5813"^^xsd:string) AnnotationAssertion(rdfs:label "purine nucleoside phosphorylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10563426"^^xsd:string) "A cerebrum cancer that affects the lymph cells and derives_from the brain. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7611"^^xsd:string) AnnotationAssertion( "brain primary lymphoma"^^xsd:string) AnnotationAssertion( "primary Lymphoma of Cerebrum"^^xsd:string) AnnotationAssertion( "primary cerebral lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5815"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hemoglobinuria) AnnotationAssertion(Annotation( "MESH:D006456"^^xsd:string) "The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine."^^xsd:string) AnnotationAssertion( "ICD10CM:R82.3"^^xsd:string) AnnotationAssertion( "ICD9CM:791.2"^^xsd:string) AnnotationAssertion( "MESH:D006456"^^xsd:string) AnnotationAssertion( "NCI:C34677"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:582"^^xsd:string) AnnotationAssertion(rdfs:label "hemoglobinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (composite lymphoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=633086"^^xsd:string) "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007215"^^xsd:string) AnnotationAssertion( "MESH:D058617"^^xsd:string) AnnotationAssertion( "NCI:C38661"^^xsd:string) AnnotationAssertion( "composite lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5820"^^xsd:string) AnnotationAssertion(rdfs:label "composite lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (methotrexate-associated lymphoproliferation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7184"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5821"^^xsd:string) AnnotationAssertion(rdfs:label "methotrexate-associated lymphoproliferation"^^xsd:string) SubClassOf( ) # Class: (gray zone lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gray_zone_lymphoma"^^xsd:string) "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10897"^^xsd:string) AnnotationAssertion( "NCI:C37869"^^xsd:string) AnnotationAssertion( "RDO:9004789"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5822"^^xsd:string) AnnotationAssertion(rdfs:label "gray zone lymphoma"^^xsd:string) SubClassOf( ) # Class: (childhood lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9590/3"^^xsd:string) AnnotationAssertion( "MONDO:0003659"^^xsd:string) AnnotationAssertion( "NCI:C5165"^^xsd:string) AnnotationAssertion( "pediatric lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5823"^^xsd:string) AnnotationAssertion(rdfs:label "childhood lymphoma"^^xsd:string) SubClassOf( ) # Class: (adult lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7587"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5825"^^xsd:string) AnnotationAssertion(rdfs:label "adult lymphoma"^^xsd:string) SubClassOf( ) # Class: (breast lymphoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26380896"^^xsd:string) "A breast cancer that arises_from lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "lymphoma of breast"^^xsd:string) AnnotationAssertion( "lymphoma of the breast"^^xsd:string) AnnotationAssertion( "malignant lymphoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5826"^^xsd:string) AnnotationAssertion(rdfs:label "breast lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrioid ovary carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25120828"^^xsd:string) "An ovary adenocarcinoma that has_material_basis_in endometrial tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000416"^^xsd:string) AnnotationAssertion( "EFO:1000417"^^xsd:string) AnnotationAssertion( "EFO:1001515"^^xsd:string) AnnotationAssertion( "NCI:C7979"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma of ovary"^^xsd:string) AnnotationAssertion( "ovarian endometrioid carcinoma"^^xsd:string) AnnotationAssertion( "Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5828"^^xsd:string) AnnotationAssertion(rdfs:label "endometrioid ovary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine ligament endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690"^^xsd:string) "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40138"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5829"^^xsd:string) AnnotationAssertion(rdfs:label "uterine ligament endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (hemolytic anemia) AnnotationAssertion(Annotation( "MESH:D000743"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia"^^xsd:string) "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005558"^^xsd:string) AnnotationAssertion( "ICD10CM:D55-D59"^^xsd:string) AnnotationAssertion( "MESH:D000743"^^xsd:string) AnnotationAssertion( "NCI:C34376"^^xsd:string) AnnotationAssertion( "acquired hemolytic anemia"^^xsd:string) AnnotationAssertion( "microangiopathic anemia"^^xsd:string) AnnotationAssertion( "microangiopathic hemolytic anemia"^^xsd:string) AnnotationAssertion( "severe hemolytic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DIEGO BLOOD GROUP ANTIGEN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ABRAHAM LINCOLN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DRENTHE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN GENOVA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN HYOGO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ISEHARA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN KOBE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MANHATTAN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN MIZUHO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN OLMSTED"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN PERTH"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN REDONDO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SABINE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN VOLGA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ZURICH"^^xsd:string) AnnotationAssertion( "Hemoglobin Bucuresti"^^xsd:string) AnnotationAssertion( "Hemoglobin Louisville"^^xsd:string) AnnotationAssertion( "Hemoglobin Nijkerk"^^xsd:string) AnnotationAssertion( "DOID:583"^^xsd:string) AnnotationAssertion(rdfs:label "hemolytic anemia"^^xsd:string) SubClassOf( ) # Class: (cervical endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23722512"^^xsd:string) "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000164"^^xsd:string) AnnotationAssertion( "NCI:C6343"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5830"^^xsd:string) AnnotationAssertion(rdfs:label "cervical endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8946874"^^xsd:string) "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40111"^^xsd:string) AnnotationAssertion( "NCI:C6279"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "fallopian tube endometrioid cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "fallopian tube endometrioid neoplasm"^^xsd:string) AnnotationAssertion( "DOID:5831"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spermatocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39921"^^xsd:string) AnnotationAssertion( "spermatocytic seminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5834"^^xsd:string) AnnotationAssertion(rdfs:label "spermatocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (extragonadal seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7327"^^xsd:string) AnnotationAssertion( "primary extragonadal seminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5838"^^xsd:string) AnnotationAssertion(rdfs:label "extragonadal seminoma"^^xsd:string) SubClassOf( ) # Class: (testis seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003101"^^xsd:string) AnnotationAssertion( "NCI:C7328"^^xsd:string) AnnotationAssertion( "NCI:C9309"^^xsd:string) AnnotationAssertion( "seminoma of testis"^^xsd:string) AnnotationAssertion( "testicular seminoma pure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5842"^^xsd:string) AnnotationAssertion(rdfs:label "testis seminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posteroinferior myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36068"^^xsd:string) AnnotationAssertion( "RDO:9001869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5843"^^xsd:string) AnnotationAssertion(rdfs:label "posteroinferior myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (myocardial infarction) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Myocardial_infarction"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17951287"^^xsd:string) "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608446"^^xsd:string) AnnotationAssertion( "MIM:608557"^^xsd:string) AnnotationAssertion( "F7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0000612"^^xsd:string) AnnotationAssertion( "EFO:0009953"^^xsd:string) AnnotationAssertion( "MESH:D009203"^^xsd:string) AnnotationAssertion( "NCI:C27996"^^xsd:string) AnnotationAssertion( "Cardiovascular Stroke"^^xsd:string) AnnotationAssertion( "Heart Attacks"^^xsd:string) AnnotationAssertion( "MCI2"^^xsd:string) AnnotationAssertion( "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "Myocardial Infarct"^^xsd:string) AnnotationAssertion( "Myocardial Infarctions"^^xsd:string) AnnotationAssertion( "cardiovascular strokes"^^xsd:string) AnnotationAssertion( "heart attack"^^xsd:string) AnnotationAssertion( "myocardial infarcts"^^xsd:string) AnnotationAssertion( "MCI1"^^xsd:string) AnnotationAssertion( "MYOCARDIAL INFARCTION, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "post-operative myocardial infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:5844"^^xsd:string) AnnotationAssertion(rdfs:label "myocardial infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterolateral myocardial infarction) AnnotationAssertion(Annotation( "MESH:D056988"^^xsd:string) "MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction."^^xsd:string) AnnotationAssertion( "EFO:1000812"^^xsd:string) AnnotationAssertion( "MESH:D056988"^^xsd:string) AnnotationAssertion( "acute anterior wall myocardial infarction"^^xsd:string) AnnotationAssertion( "anterior wall myocardial infarction"^^xsd:string) AnnotationAssertion( "anterolateral myocardial infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5845"^^xsd:string) AnnotationAssertion(rdfs:label "anterolateral myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (septal myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001870"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5846"^^xsd:string) AnnotationAssertion(rdfs:label "septal myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (posterior myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5847"^^xsd:string) AnnotationAssertion(rdfs:label "posterior myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (apical myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36073"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5848"^^xsd:string) AnnotationAssertion(rdfs:label "apical myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (subendocardial myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35305"^^xsd:string) AnnotationAssertion( "RDO:9001873"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5849"^^xsd:string) AnnotationAssertion(rdfs:label "subendocardial myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (nephrolithiasis) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/kidney-stones"^^xsd:string) Annotation( "https://medlineplus.gov/kidneystones.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/"^^xsd:string) "A kidney disease characterized by the formation of stoney concentrations in the kidneys. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004253"^^xsd:string) AnnotationAssertion( "ICD10CM:N20"^^xsd:string) AnnotationAssertion( "ICD9CM:592"^^xsd:string) AnnotationAssertion( "MESH:D053040"^^xsd:string) AnnotationAssertion( "NEPHROLITHIASIS, CALCIUM OXALATE"^^xsd:string) AnnotationAssertion( "UAN"^^xsd:string) AnnotationAssertion( "calcium oxalate urolithiasis"^^xsd:string) AnnotationAssertion( "calculus of kidney and ureter"^^xsd:string) AnnotationAssertion( "stone - kidney/ureter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:585"^^xsd:string) AnnotationAssertion(rdfs:label "nephrolithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inferior myocardial infarction) AnnotationAssertion(Annotation( "MESH:D056989"^^xsd:string) "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery."^^xsd:string) AnnotationAssertion( "EFO:1000983"^^xsd:string) AnnotationAssertion( "MESH:D056989"^^xsd:string) AnnotationAssertion( "Acute Inferior Myocardial Infarction"^^xsd:string) AnnotationAssertion( "Diaphragmatic Myocardial Infarction"^^xsd:string) AnnotationAssertion( "Inferior Myocardial Infarctions"^^xsd:string) AnnotationAssertion( "diaphragmatic myocardial infarctions"^^xsd:string) AnnotationAssertion( "inferior wall myocardial infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5850"^^xsd:string) AnnotationAssertion(rdfs:label "inferior myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (posterolateral myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35672"^^xsd:string) AnnotationAssertion( "RDO:9001874"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5851"^^xsd:string) AnnotationAssertion(rdfs:label "posterolateral myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (inferolateral myocardial infarct) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35673"^^xsd:string) AnnotationAssertion( "RDO:9001875"^^xsd:string) AnnotationAssertion( "inferolateral myocardial infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5852"^^xsd:string) AnnotationAssertion(rdfs:label "inferolateral myocardial infarct"^^xsd:string) SubClassOf( ) # Class: (lateral myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5853"^^xsd:string) AnnotationAssertion(rdfs:label "lateral myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (silent myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5854"^^xsd:string) AnnotationAssertion(rdfs:label "silent myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (anteroseptal myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "anteroseptal myocardial infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5855"^^xsd:string) AnnotationAssertion(rdfs:label "anteroseptal myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (periosteal chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9221/3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5859"^^xsd:string) AnnotationAssertion(rdfs:label "periosteal chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (myxoid chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9231/3"^^xsd:string) AnnotationAssertion( "MONDO:0003681"^^xsd:string) AnnotationAssertion( "NCI:C4303"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5861"^^xsd:string) AnnotationAssertion(rdfs:label "myxoid chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (localized chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8778"^^xsd:string) AnnotationAssertion( "RDO:9004145"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5862"^^xsd:string) AnnotationAssertion(rdfs:label "localized chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (juxtacortical chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5866"^^xsd:string) AnnotationAssertion(rdfs:label "juxtacortical chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (clear cell chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9242/3"^^xsd:string) AnnotationAssertion( "MESH:D000077207"^^xsd:string) AnnotationAssertion( "NCI:C6475"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5867"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (eosinophilic pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eosinophilic_pneumonia"^^xsd:string) "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007257"^^xsd:string) AnnotationAssertion( "GARD:107"^^xsd:string) AnnotationAssertion( "ICD10CM:J82"^^xsd:string) AnnotationAssertion( "NCI:C35150"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5870"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic pneumonia"^^xsd:string) SubClassOf( ) # Class: (retroperitoneal germ cell neoplasm) AnnotationAssertion( "NCI:C6447"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6447"^^xsd:string) "germ cell tumor of Retroperitoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5874"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal germ cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (retroperitoneal cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Retroperitoneal_space"^^xsd:string) "A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007466"^^xsd:string) AnnotationAssertion( "ICD10CM:C48"^^xsd:string) AnnotationAssertion( "ICD10CM:C48.0"^^xsd:string) AnnotationAssertion( "ICD9CM:158"^^xsd:string) AnnotationAssertion( "ICD9CM:158.0"^^xsd:string) AnnotationAssertion( "NCI:C3357"^^xsd:string) AnnotationAssertion( "NCI:C3537"^^xsd:string) AnnotationAssertion( "malignant neoplasm of retroperitoneum"^^xsd:string) AnnotationAssertion( "malignant neoplasm of retroperitoneum and peritoneum"^^xsd:string) AnnotationAssertion( "malignant retroperitoneal cancer"^^xsd:string) AnnotationAssertion( "malignant tumor of peritoneum and retroperitoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5875"^^xsd:string) AnnotationAssertion(rdfs:label "retroperitoneal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (apocrine sweat gland neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6798"^^xsd:string) AnnotationAssertion( "apocrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5876"^^xsd:string) AnnotationAssertion(rdfs:label "apocrine sweat gland neoplasm"^^xsd:string) SubClassOf( ) # Class: (endocardium cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4570"^^xsd:string) AnnotationAssertion( "NCI:C5346"^^xsd:string) AnnotationAssertion( "malignant endocardial tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of endocardium"^^xsd:string) AnnotationAssertion( "malignant tumor of endocardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5877"^^xsd:string) AnnotationAssertion(rdfs:label "endocardium cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign intermediate mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7635"^^xsd:string) AnnotationAssertion( "RDO:9004678"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7635"^^xsd:string) "Well-differentiated Papillary tumor of Mesothelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5884"^^xsd:string) AnnotationAssertion(rdfs:label "benign intermediate mesothelioma"^^xsd:string) SubClassOf( ) # Class: (anaplastic ependymoma) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-24T23:17:11Z"^^xsd:string) AnnotationAssertion( "ICDO:9392/3"^^xsd:string) AnnotationAssertion( "undifferentiated ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5889"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic ependymoma"^^xsd:string) SubClassOf( ) # Class: (congenital hemolytic anemia) AnnotationAssertion(Annotation( "MESH:D000745"^^xsd:string) "Hemolytic anemia due to various intrinsic defects of the erythrocyte."^^xsd:string) AnnotationAssertion( "GARD:6167"^^xsd:string) AnnotationAssertion( "ICD10CM:D58.9"^^xsd:string) AnnotationAssertion( "ICD9CM:282"^^xsd:string) AnnotationAssertion( "MESH:D000745"^^xsd:string) AnnotationAssertion( "NCI:C34379"^^xsd:string) AnnotationAssertion( "ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL"^^xsd:string) AnnotationAssertion( "Hereditary Hemolytic Anemia"^^xsd:string) AnnotationAssertion( "congenital hemolytic anaemia"^^xsd:string) AnnotationAssertion( "congenital hemolytic anemias"^^xsd:string) AnnotationAssertion( "hereditary hemolytic anaemia"^^xsd:string) AnnotationAssertion( "hereditary hemolytic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN I (TOULOUSE)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ISTANBUL"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SAINT ETIENNE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SANTA ANA"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN TOULOUSE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN WASHTENAW"^^xsd:string) AnnotationAssertion( "hemoglobin Cheverly"^^xsd:string) AnnotationAssertion( "DOID:589"^^xsd:string) AnnotationAssertion(rdfs:label "congenital hemolytic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant adult ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8269"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5890"^^xsd:string) AnnotationAssertion(rdfs:label "malignant adult ependymoma"^^xsd:string) SubClassOf( ) # Class: (childhood malignant mesenchymoma) AnnotationAssertion( "ICD-O:M8990/3"^^xsd:string) AnnotationAssertion( "NCI:C8097"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5893"^^xsd:string) AnnotationAssertion(rdfs:label "childhood malignant mesenchymoma"^^xsd:string) SubClassOf( ) # Class: (adult malignant mesenchymoma) AnnotationAssertion( "NCI:C7947"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5894"^^xsd:string) AnnotationAssertion(rdfs:label "adult malignant mesenchymoma"^^xsd:string) SubClassOf( ) # Class: (clear cell cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/514560"^^xsd:string) "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8988"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5895"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (ovarian clear cell cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6692303"^^xsd:string) "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40086"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5896"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (ovarian clear cell adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28861185"^^xsd:string) "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40085"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5897"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell adenofibroma"^^xsd:string) SubClassOf( ) # Class: (meningeal melanocytoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us"^^xsd:string) "A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000370"^^xsd:string) AnnotationAssertion( "EFO:1000493"^^xsd:string) AnnotationAssertion( "ICDO:8728/1"^^xsd:string) AnnotationAssertion( "NCI:C4662"^^xsd:string) AnnotationAssertion( "ORDO:252046"^^xsd:string) AnnotationAssertion( "leptomeningeal melanocytoma"^^xsd:string) AnnotationAssertion( "melanocytoma of meninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5900"^^xsd:string) AnnotationAssertion(rdfs:label "meningeal melanocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penis non-invasive verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27791"^^xsd:string) AnnotationAssertion( "non-invasive penile verrucous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5907"^^xsd:string) AnnotationAssertion(rdfs:label "penis non-invasive verrucous carcinoma"^^xsd:string) SubClassOf( ) # Class: (penis verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6982"^^xsd:string) AnnotationAssertion( "verrucous squamous carcinoma of penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5908"^^xsd:string) AnnotationAssertion(rdfs:label "penis verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (phobic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string) "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001908"^^xsd:string) AnnotationAssertion( "ICD10CM:F40"^^xsd:string) AnnotationAssertion( "ICD9CM:300.20"^^xsd:string) AnnotationAssertion( "MESH:D010698"^^xsd:string) AnnotationAssertion( "NCI:C35420"^^xsd:string) AnnotationAssertion( "Claustrophobia"^^xsd:string) AnnotationAssertion( "Phobia"^^xsd:string) AnnotationAssertion( "Phobic Neuroses"^^xsd:string) AnnotationAssertion( "claustrophobias"^^xsd:string) AnnotationAssertion( "phobias"^^xsd:string) AnnotationAssertion( "phobic disorders"^^xsd:string) AnnotationAssertion( "school phobia"^^xsd:string) AnnotationAssertion( "school phobias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:591"^^xsd:string) AnnotationAssertion(rdfs:label "phobic disorder"^^xsd:string) SubClassOf( ) # Class: (brachial plexus neoplasm) AnnotationAssertion( "NCI:C5823"^^xsd:string) AnnotationAssertion( "tumor of the brachial plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5913"^^xsd:string) AnnotationAssertion(rdfs:label "brachial plexus neoplasm"^^xsd:string) SubClassOf( ) # Class: (diffuse sclerosing papillary thyroid carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36546348/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/36995892/"^^xsd:string) "A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8350/3"^^xsd:string) AnnotationAssertion( "MONDO:0003701"^^xsd:string) AnnotationAssertion( "NCI:C7427"^^xsd:string) AnnotationAssertion( "Diffuse sclerosing papillary thyroid cancer (DSPTC)"^^xsd:string) AnnotationAssertion( "diffuse sclerosing PTC"^^xsd:string) AnnotationAssertion( "diffuse sclerosing papillary carcinoma"^^xsd:string) AnnotationAssertion( "diffuse sclerosing variant thyroid gland papillary carcinoma"^^xsd:string) AnnotationAssertion( "nonencapsulated sclerosing carcinoma"^^xsd:string) AnnotationAssertion( "nonencapsulated sclerosing neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5914"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse sclerosing papillary thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (uterus intravascular leiomyomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8950762"^^xsd:string) "An uterine corpus leiomyomatosis that is located_in the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004479"^^xsd:string) AnnotationAssertion( "intravascular leiomyomatosis of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5915"^^xsd:string) AnnotationAssertion(rdfs:label "uterus intravascular leiomyomatosis"^^xsd:string) SubClassOf( ) # Class: (uterine corpus leiomyomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23383444"^^xsd:string) Annotation( "https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids"^^xsd:string) "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40170"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5916"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus leiomyomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus diffuse leiomyomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18754301"^^xsd:string) "An uterine corpus leiomyomatosis that is located throughout the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004486"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5917"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus diffuse leiomyomatosis"^^xsd:string) SubClassOf( ) # Class: (adult brainstem mixed glioma) AnnotationAssertion( "NCI:C9371"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9371"^^xsd:string) "adult brain stem mixed glioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5921"^^xsd:string) AnnotationAssertion(rdfs:label "adult brainstem mixed glioma"^^xsd:string) SubClassOf( ) # Class: (adult brainstem astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6954"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5922"^^xsd:string) AnnotationAssertion(rdfs:label "adult brainstem astrocytoma"^^xsd:string) SubClassOf( ) # Class: (distal biliary tract carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7109"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7109"^^xsd:string) "carcinoma of the Distal biliary tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5923"^^xsd:string) AnnotationAssertion(rdfs:label "distal biliary tract carcinoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic bile duct small cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5845"^^xsd:string) AnnotationAssertion( "oat cell extrahepatic bile duct carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5926"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct small cell adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (agoraphobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anxiety_disorder"^^xsd:string) "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001872"^^xsd:string) AnnotationAssertion( "ICD10CM:F40.0"^^xsd:string) AnnotationAssertion( "MESH:D000379"^^xsd:string) AnnotationAssertion( "NCI:C34362"^^xsd:string) AnnotationAssertion( "Agoraphobias"^^xsd:string) AnnotationAssertion( "fear of open spaces"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:593"^^xsd:string) AnnotationAssertion(rdfs:label "agoraphobia"^^xsd:string) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (ovarian mixed germ cell neoplasm) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25366470"^^xsd:string) "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8114"^^xsd:string) AnnotationAssertion( "RDO:9003448"^^xsd:string) AnnotationAssertion( "mixed germ cell tumor of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5936"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mixed germ cell neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (panic disorder) AnnotationAssertion(Annotation( "http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml"^^xsd:string) "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. (DO)"^^xsd:string) AnnotationAssertion( "MIM:167870"^^xsd:string) AnnotationAssertion( "MIM:607853"^^xsd:string) AnnotationAssertion( "MIM:609985"^^xsd:string) AnnotationAssertion( "EFO:0004262"^^xsd:string) AnnotationAssertion( "EFO:1001907"^^xsd:string) AnnotationAssertion( "ICD10CM:F41.0"^^xsd:string) AnnotationAssertion( "MESH:D016584"^^xsd:string) AnnotationAssertion( "MIM:PS167870"^^xsd:string) AnnotationAssertion( "NCI:C34890"^^xsd:string) AnnotationAssertion( "Panic Attack"^^xsd:string) AnnotationAssertion( "Panic Attacks"^^xsd:string) AnnotationAssertion( "Panic Disorders"^^xsd:string) AnnotationAssertion( "panic anxiety syndrome"^^xsd:string) AnnotationAssertion( "PAND1"^^xsd:string) AnnotationAssertion( "PAND2"^^xsd:string) AnnotationAssertion( "PAND3"^^xsd:string) AnnotationAssertion( "panic disorder 1"^^xsd:string) AnnotationAssertion( "panic disorder 2"^^xsd:string) AnnotationAssertion( "panic disorder 3"^^xsd:string) AnnotationAssertion( "panic disorder with joint laxity"^^xsd:string) AnnotationAssertion( "panic disorder without agoraphobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED"^^xsd:string) AnnotationAssertion( "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED"^^xsd:string) AnnotationAssertion( "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED"^^xsd:string) AnnotationAssertion( "catechol-o-methyltransferase polymorphism"^^xsd:string) AnnotationAssertion( "DOID:594"^^xsd:string) AnnotationAssertion(rdfs:label "panic disorder"^^xsd:string) SubClassOf( ) # Class: (malignant peripheral nerve sheath tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000194"^^xsd:string) AnnotationAssertion( "EFO:0000760"^^xsd:string) AnnotationAssertion( "EFO:1000361"^^xsd:string) AnnotationAssertion( "GARD:10872"^^xsd:string) AnnotationAssertion( "ICDO:9540/3"^^xsd:string) AnnotationAssertion( "NCI:C125415"^^xsd:string) AnnotationAssertion( "NCI:C3798"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the peripheral nerve sheath"^^xsd:string) AnnotationAssertion( "malignant peripheral nerve sheath tumors"^^xsd:string) AnnotationAssertion( "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5940"^^xsd:string) AnnotationAssertion(rdfs:label "malignant peripheral nerve sheath tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angiokeratoma of mibelli) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003712"^^xsd:string) AnnotationAssertion( "NCI:C3927"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5948"^^xsd:string) AnnotationAssertion(rdfs:label "angiokeratoma of mibelli"^^xsd:string) SubClassOf( ) # Class: (angiokeratoma circumscriptum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7751"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5949"^^xsd:string) AnnotationAssertion(rdfs:label "angiokeratoma circumscriptum"^^xsd:string) SubClassOf( ) # Class: (bladder urachal squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5957"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urachal squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder urachal carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39842"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5958"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urachal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney pelvis papillary carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13056223"^^xsd:string) "A papillary carcinoma that is located_in the kidney pelvis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6148"^^xsd:string) AnnotationAssertion( "papillary carcinoma of renal pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5973"^^xsd:string) AnnotationAssertion(rdfs:label "kidney pelvis papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal pelvis transitional cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003017"^^xsd:string) AnnotationAssertion( "NCI:C7355"^^xsd:string) AnnotationAssertion( "urothelial cell carcinoma of renal pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5974"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (renal pelvis papillary tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8603"^^xsd:string) AnnotationAssertion( "papillary neoplasm of renal pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5975"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis papillary tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (occlusion precerebral artery) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009677"^^xsd:string) AnnotationAssertion( "ICD10CM:I65.9"^^xsd:string) AnnotationAssertion( "ICD9CM:433.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Occlusion and stenosis of multiple and bilateral precerebral arteries"^^xsd:string) AnnotationAssertion( "occlusion and stenosis of precerebral artery"^^xsd:string) AnnotationAssertion( "DOID:5976"^^xsd:string) AnnotationAssertion(rdfs:label "occlusion precerebral artery"^^xsd:string) SubClassOf( ) # Class: (renal pelvis benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000118"^^xsd:string) AnnotationAssertion( "NCI:C8404"^^xsd:string) AnnotationAssertion( "neoplasm of renal pelvis"^^xsd:string) AnnotationAssertion( "tumor of kidney pelvis"^^xsd:string) AnnotationAssertion( "tumor of renal pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5977"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (kidney fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7726"^^xsd:string) AnnotationAssertion( "fibrosarcoma of the kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5982"^^xsd:string) AnnotationAssertion(rdfs:label "kidney fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney osteogenic sarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1768219"^^xsd:string) "A kidney sarcoma that starts in the bones and that is located in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6181"^^xsd:string) AnnotationAssertion( "renal osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5983"^^xsd:string) AnnotationAssertion(rdfs:label "kidney osteogenic sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (specific phobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Specific_phobia"^^xsd:string) "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608251"^^xsd:string) AnnotationAssertion( "EFO:1001878"^^xsd:string) AnnotationAssertion( "EFO:1001918"^^xsd:string) AnnotationAssertion( "ICD10CM:F40.2"^^xsd:string) AnnotationAssertion( "MESH:C562465"^^xsd:string) AnnotationAssertion( "NCI:C35284"^^xsd:string) AnnotationAssertion( "simple phobia"^^xsd:string) AnnotationAssertion( "blood-injection-injury phobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:599"^^xsd:string) AnnotationAssertion(rdfs:label "specific phobia"^^xsd:string) SubClassOf( ) # Class: (internal auditory canal meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5307"^^xsd:string) AnnotationAssertion( "meningioma of the internal auditory canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5990"^^xsd:string) AnnotationAssertion(rdfs:label "internal auditory canal meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (non-proliferative fibrocystic change of the breast) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27483712"^^xsd:string) "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6943"^^xsd:string) AnnotationAssertion( "non-proliferative fibrocystic change"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5997"^^xsd:string) AnnotationAssertion(rdfs:label "non-proliferative fibrocystic change of the breast"^^xsd:string) SubClassOf( ) # Class: (microglandular adenosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/"^^xsd:string) "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006891"^^xsd:string) AnnotationAssertion( "NCI:C3484"^^xsd:string) AnnotationAssertion( "adenosis of breast"^^xsd:string) AnnotationAssertion( "adenosis of the breast"^^xsd:string) AnnotationAssertion( "breast adenosis"^^xsd:string) AnnotationAssertion( "microglandular adenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5998"^^xsd:string) AnnotationAssertion(rdfs:label "microglandular adenosis"^^xsd:string) SubClassOf( ) # Class: (apocrine adenosis of breast) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20123450"^^xsd:string) "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5198"^^xsd:string) AnnotationAssertion( "apocrine adenosis of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:5999"^^xsd:string) AnnotationAssertion(rdfs:label "apocrine adenosis of breast"^^xsd:string) SubClassOf( ) # Class: (animal phobia) AnnotationAssertion(Annotation( "http://hubpages.com/hub/list-of-animal-phobias"^^xsd:string) "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001876"^^xsd:string) AnnotationAssertion( "MESH:C000719220"^^xsd:string) AnnotationAssertion( "NCI:C35273"^^xsd:string) AnnotationAssertion( "fear of animals"^^xsd:string) AnnotationAssertion( "zoophobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:600"^^xsd:string) AnnotationAssertion(rdfs:label "animal phobia"^^xsd:string) SubClassOf( ) # Class: (congestive heart failure) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string) "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000373"^^xsd:string) AnnotationAssertion( "EFO:0003144"^^xsd:string) AnnotationAssertion( "EFO:0003145"^^xsd:string) AnnotationAssertion( "EFO:0003146"^^xsd:string) AnnotationAssertion( "EFO:0003148"^^xsd:string) AnnotationAssertion( "EFO:0003149"^^xsd:string) AnnotationAssertion( "ICD10CM:I50"^^xsd:string) AnnotationAssertion( "ICD10CM:I50.9"^^xsd:string) AnnotationAssertion( "ICD9CM:428"^^xsd:string) AnnotationAssertion( "ICD9CM:428.0"^^xsd:string) AnnotationAssertion( "MESH:D006333"^^xsd:string) AnnotationAssertion( "NCI:C3080"^^xsd:string) AnnotationAssertion( "NCI:C50577"^^xsd:string) AnnotationAssertion( "CHF"^^xsd:string) AnnotationAssertion( "Cardiac Failure"^^xsd:string) AnnotationAssertion( "Heart Decompensation"^^xsd:string) AnnotationAssertion( "Heart Failure"^^xsd:string) AnnotationAssertion( "Myocardial Failure"^^xsd:string) AnnotationAssertion( "congestive cardiac failure"^^xsd:string) AnnotationAssertion( "congestive heart disease"^^xsd:string) AnnotationAssertion( "weak heart"^^xsd:string) AnnotationAssertion( "Chronic Heart Failure"^^xsd:string) AnnotationAssertion( "advanced heart failure"^^xsd:string) AnnotationAssertion( "high output heart failure"^^xsd:string) AnnotationAssertion( "left sided heart failure"^^xsd:string) AnnotationAssertion( "moderate heart failure"^^xsd:string) AnnotationAssertion( "right sided heart failure"^^xsd:string) AnnotationAssertion( "symptomatic heart failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Beta-2-adrenoreceptor agonist, reduced response to"^^xsd:string) AnnotationAssertion( "Congestive heart failure and beta-blocker response, modifier of"^^xsd:string) AnnotationAssertion( "Congestive heart failure, modifier of"^^xsd:string) AnnotationAssertion( "DOID:6000"^^xsd:string) AnnotationAssertion(rdfs:label "congestive heart failure"^^xsd:string) SubClassOf( ) # Class: (appendix disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Appendix"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15807474"^^xsd:string) "A gastrointestinal system disease that is located_in the appendix. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009542"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60000"^^xsd:string) AnnotationAssertion(rdfs:label "appendix disease"^^xsd:string) SubClassOf( ) # Class: (pulmonary artery disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23737196"^^xsd:string) "An artery disease that is located in the lungs. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60001"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary artery disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26195958"^^xsd:string) "A female reproductive system disease that is located in Bartholin's gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009469"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60002"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland disease"^^xsd:string) SubClassOf( ) # Class: (Bartholin's gland cancer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma"^^xsd:string) "A vulva cancer that is located in Bartholin's gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60003"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant cystadenoma) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60004"^^xsd:string) AnnotationAssertion(rdfs:label "malignant cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign vascular tumor) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60006"^^xsd:string) AnnotationAssertion(rdfs:label "benign vascular tumor"^^xsd:string) SubClassOf( ) # Class: (cerebrovascular benign neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cerebral_circulation"^^xsd:string) Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor"^^xsd:string) "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60007"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrovascular benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parathyroid gland benign neoplasm) AnnotationAssertion(Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor"^^xsd:string) "An endocrine organ benign neoplasm that is located_in some parathyroid gland. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C3630"^^xsd:string) AnnotationAssertion( "parathyroid benign neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60008"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid gland benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pituitary gland benign neoplasm) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548"^^xsd:string) "A benign neoplasm located in the pituitary gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:60009"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary gland benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast fibrosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string) "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5185"^^xsd:string) AnnotationAssertion( "fibrosarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6001"^^xsd:string) AnnotationAssertion(rdfs:label "breast fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aleukemic leukemia cutis) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=20.02d&code=C4983&ns=ncit&type=properties&key=null&b=1&n=0&vse=null"^^xsd:string) "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4983"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6003"^^xsd:string) AnnotationAssertion(rdfs:label "aleukemic leukemia cutis"^^xsd:string) SubClassOf( ) # Class: (aleukemic leukemia) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medical/aleukemic%20leukemia"^^xsd:string) Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982"^^xsd:string) "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4982"^^xsd:string) AnnotationAssertion( "aleukemic myelosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6004"^^xsd:string) AnnotationAssertion(rdfs:label "aleukemic leukemia"^^xsd:string) SubClassOf( ) # Class: (adult central nervous system teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5794"^^xsd:string) AnnotationAssertion( "RDO:9004036"^^xsd:string) AnnotationAssertion( "teratoma of the adult central nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6015"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system teratoma"^^xsd:string) SubClassOf( ) # Class: (adult central nervous system mature teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6016"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system mature teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system mature teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string) "A mature teratoma that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7013"^^xsd:string) AnnotationAssertion( "mature teratoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6017"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system mature teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult central nervous system immature teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27401"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6018"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system immature teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system immature teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21150046"^^xsd:string) "A malignant teratoma that is located_in the central nervous system. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7014"^^xsd:string) AnnotationAssertion( "immature teratoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6019"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system immature teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cancerophobia) AnnotationAssertion( "EFO:1001879"^^xsd:string) AnnotationAssertion( "NCI:C35492"^^xsd:string) AnnotationAssertion( "cancer phobia"^^xsd:string) AnnotationAssertion( "fear of getting cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:602"^^xsd:string) AnnotationAssertion(rdfs:label "cancerophobia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (selective IgE deficiency disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24717782"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28778662"^^xsd:string) "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27143"^^xsd:string) AnnotationAssertion( "RDO:9002612"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27143"^^xsd:string) "Selective IgE Immunodeficiency"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:234540007"^^xsd:string) "Selective immunoglobulin E deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6024"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgE deficiency disease"^^xsd:string) SubClassOf( ) # Class: (selective immunoglobulin deficiency disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK507905/"^^xsd:string) "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27870"^^xsd:string) AnnotationAssertion( "RDO:9004115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6025"^^xsd:string) AnnotationAssertion(rdfs:label "selective immunoglobulin deficiency disease"^^xsd:string) SubClassOf( ) # Class: (AIDS phobia) AnnotationAssertion( "EFO:1001873"^^xsd:string) AnnotationAssertion( "NCI:C35614"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:603"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS phobia"^^xsd:string) SubClassOf( ) # Class: (juvenile type testicular granulosa cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39947"^^xsd:string) AnnotationAssertion( "NCI:C4207"^^xsd:string) AnnotationAssertion( "Juvenile type Granulosa cell tumour"^^xsd:string) AnnotationAssertion( "Juvenile type granulosa cell tumor"^^xsd:string) AnnotationAssertion( "juvenile granulosa cell tumor"^^xsd:string) AnnotationAssertion( "juvenile granulosa cell tumour"^^xsd:string) AnnotationAssertion( "juvenile type granulosa cell neoplasm"^^xsd:string) AnnotationAssertion( "juvenile type testicular granulosa cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6032"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile type testicular granulosa cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5361"^^xsd:string) AnnotationAssertion( "cardiac fibrosarcoma"^^xsd:string) AnnotationAssertion( "fibrosarcoma of the heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6033"^^xsd:string) AnnotationAssertion(rdfs:label "heart fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart malignant hemangiopericytoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16434949"^^xsd:string) "A heart sarcoma that is a soft tissue sarcoma located in the heart. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5365"^^xsd:string) AnnotationAssertion( "malignant hemangiopericytoma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6034"^^xsd:string) AnnotationAssertion(rdfs:label "heart malignant hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell intraocular melanoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3"^^xsd:string) "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7986"^^xsd:string) AnnotationAssertion( "uveal spindle cell melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6037"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell intraocular melanoma"^^xsd:string) SubClassOf( ) # Class: (uveal melanoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/UvealMelanoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Uveal_melanoma"^^xsd:string) "A uveal cancer that has_material_basis_in uvea pigment cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155720"^^xsd:string) AnnotationAssertion( "MIM:606660"^^xsd:string) AnnotationAssertion( "MIM:606661"^^xsd:string) AnnotationAssertion( "EFO:1000616"^^xsd:string) AnnotationAssertion( "HP:0012054"^^xsd:string) AnnotationAssertion( "MESH:C536494"^^xsd:string) AnnotationAssertion( "NCI:C7712"^^xsd:string) AnnotationAssertion( "ORDO:39044"^^xsd:string) AnnotationAssertion( "melanoma of the uvea"^^xsd:string) AnnotationAssertion( "melanoma of uvea"^^xsd:string) AnnotationAssertion( "CHOROIDAL MELANOMA"^^xsd:string) AnnotationAssertion( "UVM1"^^xsd:string) AnnotationAssertion( "UVM2"^^xsd:string) AnnotationAssertion( "uveal melanoma, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "uveal melanoma, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6039"^^xsd:string) AnnotationAssertion(rdfs:label "uveal melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroid spindle cell melanoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print"^^xsd:string) "A malignant choroid melanoma that is located_in the choroid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6099"^^xsd:string) AnnotationAssertion( "spindle cell melanoma of the choroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6041"^^xsd:string) AnnotationAssertion(rdfs:label "choroid spindle cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ciliary body spindle cell melanoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17545559/"^^xsd:string) "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6117"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6117"^^xsd:string) "spindle cell melanoma of the Ciliary body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6043"^^xsd:string) AnnotationAssertion(rdfs:label "ciliary body spindle cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (telangiectatic glomangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5345"^^xsd:string) AnnotationAssertion( "RDO:9004602"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6048"^^xsd:string) AnnotationAssertion(rdfs:label "telangiectatic glomangioma"^^xsd:string) SubClassOf( ) # Class: (flying phobia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fear_of_flying"^^xsd:string) "A specific phobia that is characterized by a fear of flying. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001889"^^xsd:string) AnnotationAssertion( "ICD10CM:F40.243"^^xsd:string) AnnotationAssertion( "MESH:C000719189"^^xsd:string) AnnotationAssertion( "NCI:C35413"^^xsd:string) AnnotationAssertion( "aerophobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:605"^^xsd:string) AnnotationAssertion(rdfs:label "flying phobia"^^xsd:string) SubClassOf( ) # Class: (esophageal disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Esophageal_disease"^^xsd:string) "A gastrointestinal system disease that is located_in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009544"^^xsd:string) AnnotationAssertion( "ICD10CM:K22.9"^^xsd:string) AnnotationAssertion( "ICD9CM:530.9"^^xsd:string) AnnotationAssertion( "MESH:D004935"^^xsd:string) AnnotationAssertion( "NCI:C3027"^^xsd:string) AnnotationAssertion( "esophageal diseases"^^xsd:string) AnnotationAssertion( "esophageal ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6050"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal disease"^^xsd:string) SubClassOf( ) # Class: (central nervous system childhood germ cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9064/3"^^xsd:string) AnnotationAssertion( "MONDO:0003750"^^xsd:string) AnnotationAssertion( "NCI:C6205"^^xsd:string) AnnotationAssertion( "central nervous system childhood germ cell tumour"^^xsd:string) AnnotationAssertion( "paediatric germ cell neoplasm of CNS"^^xsd:string) AnnotationAssertion( "pediatric germ cell neoplasm of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6052"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system childhood germ cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood germ cell cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23559398"^^xsd:string) "A germ cell cancer that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7928"^^xsd:string) AnnotationAssertion( "paediatric germ cell cancer"^^xsd:string) AnnotationAssertion( "paediatric germ cell neoplasm"^^xsd:string) AnnotationAssertion( "pediatric germ cell cancer"^^xsd:string) AnnotationAssertion( "pediatric germ cell neoplasm"^^xsd:string) AnnotationAssertion( "pediatric germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6053"^^xsd:string) AnnotationAssertion(rdfs:label "childhood germ cell cancer"^^xsd:string) SubClassOf( ) # Class: (frontal sinus Schneiderian papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6837"^^xsd:string) AnnotationAssertion( "Schneiderian papilloma of the frontal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6054"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinus Schneiderian papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal vestibule papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4369"^^xsd:string) AnnotationAssertion( "RDO:9003786"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:232364006"^^xsd:string) "papilloma of nasal vestibule"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4369"^^xsd:string) "squamous papilloma of the nasal Vestibule"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6059"^^xsd:string) AnnotationAssertion(rdfs:label "nasal vestibule papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brown-Sequard syndrome) AnnotationAssertion(Annotation( "MESH:D018437"^^xsd:string) "A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)."^^xsd:string) AnnotationAssertion( "EFO:1001279"^^xsd:string) AnnotationAssertion( "GARD:5964"^^xsd:string) AnnotationAssertion( "ICD10CM:G83.81"^^xsd:string) AnnotationAssertion( "MESH:D018437"^^xsd:string) AnnotationAssertion( "NCI:C84601"^^xsd:string) AnnotationAssertion( "Brown Sequard Disease"^^xsd:string) AnnotationAssertion( "Brown Sequard's Disease"^^xsd:string) AnnotationAssertion( "Brown Sequard's Paralysis"^^xsd:string) AnnotationAssertion( "Brown Sequard's Syndrome"^^xsd:string) AnnotationAssertion( "Brown-Sequard Paralysis"^^xsd:string) AnnotationAssertion( "Brown-Sequards Disease"^^xsd:string) AnnotationAssertion( "Brown-Sequards Paralysis"^^xsd:string) AnnotationAssertion( "Brown-Sequards Syndrome"^^xsd:string) AnnotationAssertion( "Brown-Squard syndrome"^^xsd:string) AnnotationAssertion( "Hemicord Syndrome"^^xsd:string) AnnotationAssertion( "Hemiparaplegic Syndrome"^^xsd:string) AnnotationAssertion( "Hemiparaplegic Syndromes"^^xsd:string) AnnotationAssertion( "Hemispinal Cord Syndrome"^^xsd:string) AnnotationAssertion( "Hemispinal Cord Syndromes"^^xsd:string) AnnotationAssertion( "hemicord syndromes"^^xsd:string) AnnotationAssertion( "spastic spinal monoplegia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:606"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Sequard syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urinary tract non-invasive transitional cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39854"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6065"^^xsd:string) AnnotationAssertion(rdfs:label "urinary tract non-invasive transitional cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (ovarian mucinous neoplasm) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor"^^xsd:string) "An ovary epithelial cancer that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000138"^^xsd:string) AnnotationAssertion( "NCI:C40033"^^xsd:string) AnnotationAssertion( "NCI:C5242"^^xsd:string) AnnotationAssertion( "malignant ovarian mucinous neoplasm"^^xsd:string) AnnotationAssertion( "mucinous tumor of ovary"^^xsd:string) AnnotationAssertion( "ovarian mucinous tumor"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Mucinous Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6067"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous neoplasm"^^xsd:string) SubClassOf( ) # Class: (paraplegia) AnnotationAssertion(Annotation( "MESH:D010264"^^xsd:string) "Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness."^^xsd:string) AnnotationAssertion( "EFO:0009679"^^xsd:string) AnnotationAssertion( "GARD:7327"^^xsd:string) AnnotationAssertion( "ICD10CM:G82.2"^^xsd:string) AnnotationAssertion( "ICD9CM:344.1"^^xsd:string) AnnotationAssertion( "MESH:D010264"^^xsd:string) AnnotationAssertion( "NCI:C50687"^^xsd:string) AnnotationAssertion( "Ataxic Paraplegia"^^xsd:string) AnnotationAssertion( "Cerebral Paraplegia"^^xsd:string) AnnotationAssertion( "Cerebral Paraplegias"^^xsd:string) AnnotationAssertion( "Flaccid Paraplegia"^^xsd:string) AnnotationAssertion( "Flaccid Paraplegias"^^xsd:string) AnnotationAssertion( "Paralysis, Legs"^^xsd:string) AnnotationAssertion( "Paralysis, Lower Extremities"^^xsd:string) AnnotationAssertion( "Paralysis, Lower Limbs"^^xsd:string) AnnotationAssertion( "Paraplegias"^^xsd:string) AnnotationAssertion( "Spastic Paraplegia"^^xsd:string) AnnotationAssertion( "Spastic Paraplegias"^^xsd:string) AnnotationAssertion( "Spinal Paraplegia"^^xsd:string) AnnotationAssertion( "ataxic paraplegias"^^xsd:string) AnnotationAssertion( "lower paraplegia"^^xsd:string) AnnotationAssertion( "spinal paraplegias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:607"^^xsd:string) AnnotationAssertion(rdfs:label "paraplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood testicular germ cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6552"^^xsd:string) AnnotationAssertion( "paediatric testicular germ cell neoplasm"^^xsd:string) AnnotationAssertion( "paediatric testicular germ cell tumour"^^xsd:string) AnnotationAssertion( "pediatric testicular germ cell neoplasm"^^xsd:string) AnnotationAssertion( "pediatric testicular germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6082"^^xsd:string) AnnotationAssertion(rdfs:label "childhood testicular germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (childhood ovarian endodermal sinus tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8649322"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9949591"^^xsd:string) "An ovarian endodermal sinus tumor that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9071/3"^^xsd:string) AnnotationAssertion( "NCI:C6551"^^xsd:string) AnnotationAssertion( "RDO:9005069"^^xsd:string) AnnotationAssertion( "childhood ovarian endodermal sinus neoplasm"^^xsd:string) AnnotationAssertion( "childhood ovarian endodermal sinus tumour"^^xsd:string) AnnotationAssertion( "childhood ovarian yolk sac tumor"^^xsd:string) AnnotationAssertion( "childhood ovarian yolk sac tumour"^^xsd:string) AnnotationAssertion( "paediatric Ovarian Yolk Sac tumour"^^xsd:string) AnnotationAssertion( "pediatric ovarian yolk sac tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6083"^^xsd:string) AnnotationAssertion(rdfs:label "childhood ovarian endodermal sinus tumor"^^xsd:string) SubClassOf( ) # Class: (childhood ovarian germ cell tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24395845"^^xsd:string) "An ovarian germ cell cancer that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8588"^^xsd:string) AnnotationAssertion( "paediatric ovarian germ cell neoplasm"^^xsd:string) AnnotationAssertion( "paediatric ovarian germ cell tumour"^^xsd:string) AnnotationAssertion( "pediatric ovarian germ cell neoplasm"^^xsd:string) AnnotationAssertion( "pediatric ovarian germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6084"^^xsd:string) AnnotationAssertion(rdfs:label "childhood ovarian germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (meningeal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8720/3"^^xsd:string) AnnotationAssertion( "NCI:C5317"^^xsd:string) AnnotationAssertion( "melanoma of the leptomeninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6085"^^xsd:string) AnnotationAssertion(rdfs:label "meningeal melanoma"^^xsd:string) SubClassOf( ) # Class: (malignant leptomeningeal neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8506"^^xsd:string) AnnotationAssertion( "leptomeningeal cancer"^^xsd:string) AnnotationAssertion( "malignant leptomeningeal tumor"^^xsd:string) AnnotationAssertion( "malignant leptomeningeal tumour"^^xsd:string) AnnotationAssertion( "malignant tumor of leptomeninges"^^xsd:string) AnnotationAssertion( "malignant tumour of leptomeninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6086"^^xsd:string) AnnotationAssertion(rdfs:label "malignant leptomeningeal neoplasm"^^xsd:string) SubClassOf( ) # Class: (acute stress disorder) AnnotationAssertion(Annotation( "http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm"^^xsd:string) "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005223"^^xsd:string) AnnotationAssertion( "ICD9CM:308.3"^^xsd:string) AnnotationAssertion( "MESH:D040921"^^xsd:string) AnnotationAssertion( "acute stress reaction"^^xsd:string) AnnotationAssertion( "traumatic stress disorder"^^xsd:string) AnnotationAssertion( "traumatic stress disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6088"^^xsd:string) AnnotationAssertion(rdfs:label "acute stress disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood leptomeningeal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8720/3"^^xsd:string) AnnotationAssertion( "NCI:C5318"^^xsd:string) AnnotationAssertion( "pediatric leptomeningeal melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6089"^^xsd:string) AnnotationAssertion(rdfs:label "childhood leptomeningeal melanoma"^^xsd:string) SubClassOf( ) # Class: (adult leptomeningeal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5319"^^xsd:string) AnnotationAssertion( "RDO:9004628"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5319"^^xsd:string) "melanoma of adult Leptomeninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6090"^^xsd:string) AnnotationAssertion(rdfs:label "adult leptomeningeal melanoma"^^xsd:string) SubClassOf( ) # Class: (thalamic neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4576"^^xsd:string) AnnotationAssertion( "NCI:C6221"^^xsd:string) AnnotationAssertion( "malignant neoplasm of thalamus"^^xsd:string) AnnotationAssertion( "malignant tumor of thalamus"^^xsd:string) AnnotationAssertion( "tumor of thalamus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6098"^^xsd:string) AnnotationAssertion(rdfs:label "thalamic neoplasm"^^xsd:string) SubClassOf( ) # Class: (mitral valve disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009557"^^xsd:string) AnnotationAssertion( "ICD10CM:I05"^^xsd:string) AnnotationAssertion( "ICD10CM:I05.1"^^xsd:string) AnnotationAssertion( "ICD9CM:394"^^xsd:string) AnnotationAssertion( "ICD9CM:394.1"^^xsd:string) AnnotationAssertion( "ICD9CM:424.0"^^xsd:string) AnnotationAssertion( "NCI:C78446"^^xsd:string) AnnotationAssertion( "Mitral RH valve dis."^^xsd:string) AnnotationAssertion( "Rheumatic mitral insufficiency"^^xsd:string) AnnotationAssertion( "chronic rheumatic mitral valve"^^xsd:string) AnnotationAssertion( "disease of mitral valve"^^xsd:string) AnnotationAssertion( "rheumatic disease of mitral valve"^^xsd:string) AnnotationAssertion( "rheumatic mitral valve changes"^^xsd:string) AnnotationAssertion( "rheumatic mitral valve incompetence"^^xsd:string) AnnotationAssertion( "rheumatic mitral valve regurgitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:61"^^xsd:string) AnnotationAssertion(rdfs:label "mitral valve disease"^^xsd:string) SubClassOf( ) # Class: (signet ring cell variant cervical mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/"^^xsd:string) "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40205"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6101"^^xsd:string) AnnotationAssertion(rdfs:label "signet ring cell variant cervical mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (herpetic gastritis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1063088"^^xsd:string) "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27341"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6102"^^xsd:string) AnnotationAssertion(rdfs:label "herpetic gastritis"^^xsd:string) SubClassOf( ) # Class: (thoracic spinal canal and spinal cord meningioma) AnnotationAssertion( "NCI:C5297"^^xsd:string) AnnotationAssertion( "meningioma of the thoracic spinal canal and spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6103"^^xsd:string) AnnotationAssertion(rdfs:label "thoracic spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) # Class: (jugular foramen meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5293"^^xsd:string) AnnotationAssertion( "RDO:9004629"^^xsd:string) AnnotationAssertion( "meningioma of the jugular foramen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6110"^^xsd:string) AnnotationAssertion(rdfs:label "jugular foramen meningioma"^^xsd:string) SubClassOf( ) # Class: (cerebral meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4807"^^xsd:string) AnnotationAssertion( "meningioma of cerebrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6112"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intracerebral cystic meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5269"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6113"^^xsd:string) AnnotationAssertion(rdfs:label "intracerebral cystic meningioma"^^xsd:string) SubClassOf( ) # Class: (cerebral convexity meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4959"^^xsd:string) AnnotationAssertion( "RDO:9004707"^^xsd:string) AnnotationAssertion( "cerebral hemispheric convexity meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6114"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral convexity meningioma"^^xsd:string) SubClassOf( ) # Class: (lateral ventricle meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5302"^^xsd:string) AnnotationAssertion( "meningioma of the lateral ventricle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6115"^^xsd:string) AnnotationAssertion(rdfs:label "lateral ventricle meningioma"^^xsd:string) SubClassOf( ) # Class: (renal pelvis inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6187"^^xsd:string) AnnotationAssertion( "RDO:9004448"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6187"^^xsd:string) "Inverted papilloma of the kidney Pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6118"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal pelvis urothelial papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4528"^^xsd:string) AnnotationAssertion( "RDO:9004447"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6119"^^xsd:string) AnnotationAssertion(rdfs:label "renal pelvis urothelial papilloma"^^xsd:string) SubClassOf( ) # Class: (primary immunodeficiency disease) AnnotationAssertion(Annotation( "http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases"^^xsd:string) "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D007153"^^xsd:string) AnnotationAssertion( "MIM:242850"^^xsd:string) AnnotationAssertion( "ICD10CM:D84.9"^^xsd:string) AnnotationAssertion( "ICD9CM:279.3"^^xsd:string) AnnotationAssertion( "MESH:D000081207"^^xsd:string) AnnotationAssertion( "MIM:PS300755"^^xsd:string) AnnotationAssertion( "NCI:C3131"^^xsd:string) AnnotationAssertion( "NCI:C39725"^^xsd:string) AnnotationAssertion( "PRIMARY IMMUNE DEFICIENCY"^^xsd:string) AnnotationAssertion( "antibody deficiency syndrome"^^xsd:string) AnnotationAssertion( "antibody deficiency syndromes"^^xsd:string) AnnotationAssertion( "hypoimmunity"^^xsd:string) AnnotationAssertion( "immune deficiency disorder"^^xsd:string) AnnotationAssertion( "immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "immunologic deficiency syndrome"^^xsd:string) AnnotationAssertion( "immunologic deficiency syndromes"^^xsd:string) AnnotationAssertion( "immunological deficiency syndrome"^^xsd:string) AnnotationAssertion( "immunological deficiency syndromes"^^xsd:string) AnnotationAssertion( "inherited immunodeficiency diseases"^^xsd:string) AnnotationAssertion( "primary immunodeficiency diseases"^^xsd:string) AnnotationAssertion( "primary immunodeficiency disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:612"^^xsd:string) AnnotationAssertion(rdfs:label "primary immunodeficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal canal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) Annotation( "http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp"^^xsd:string) "An anal canal cancer that derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:105580"^^xsd:string) AnnotationAssertion( "MESH:C563020"^^xsd:string) AnnotationAssertion( "NCI:C7489"^^xsd:string) AnnotationAssertion( "anal canal and perianal gland carcinoma"^^xsd:string) AnnotationAssertion( "carcinoma of anal canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6126"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gliomatosis cerebri) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Gliomatosis_cerebri"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/"^^xsd:string) "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6514"^^xsd:string) AnnotationAssertion( "ICDO:9381/3"^^xsd:string) AnnotationAssertion( "NCI:C4318"^^xsd:string) AnnotationAssertion( "astrocytosis cerebri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6128"^^xsd:string) AnnotationAssertion(rdfs:label "gliomatosis cerebri"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (bronchitis) AnnotationAssertion(Annotation( "http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/bronchitis.html"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis"^^xsd:string) "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009661"^^xsd:string) AnnotationAssertion( "ICD10CM:J20"^^xsd:string) AnnotationAssertion( "ICD10CM:J40"^^xsd:string) AnnotationAssertion( "ICD10CM:J42"^^xsd:string) AnnotationAssertion( "ICD9CM:466.0"^^xsd:string) AnnotationAssertion( "ICD9CM:490"^^xsd:string) AnnotationAssertion( "ICD9CM:491"^^xsd:string) AnnotationAssertion( "MESH:D001991"^^xsd:string) AnnotationAssertion( "NCI:C26722"^^xsd:string) AnnotationAssertion( "NCI:C26932"^^xsd:string) AnnotationAssertion( "NCI:C2911"^^xsd:string) AnnotationAssertion( "Bronchitides"^^xsd:string) AnnotationAssertion( "CI - chest infection"^^xsd:string) AnnotationAssertion( "acute bronchitis"^^xsd:string) AnnotationAssertion( "chest cold"^^xsd:string) AnnotationAssertion( "chest infection"^^xsd:string) AnnotationAssertion( "chronic bronchitis"^^xsd:string) AnnotationAssertion( "recurrent wheezy bronchitis"^^xsd:string) AnnotationAssertion( "RECURRENT BRONCHITIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute bronchitis and bronchiolitis"^^xsd:string) AnnotationAssertion( "DOID:6132"^^xsd:string) AnnotationAssertion(rdfs:label "bronchitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus epithelioid leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/"^^xsd:string) "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40174"^^xsd:string) AnnotationAssertion( "RDO:9005037"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6139"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus epithelioid leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphopenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphopenia"^^xsd:string) "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D72.810"^^xsd:string) AnnotationAssertion( "ICD9CM:288.51"^^xsd:string) AnnotationAssertion( "MESH:D008231"^^xsd:string) AnnotationAssertion( "MONDO:0003783"^^xsd:string) AnnotationAssertion( "lymphocytopenia"^^xsd:string) AnnotationAssertion( "lymphocytopenias"^^xsd:string) AnnotationAssertion( "lymphopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:614"^^xsd:string) AnnotationAssertion(rdfs:label "lymphopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity carcinoma in situ) AnnotationAssertion(Annotation( "http://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages"^^xsd:string) "An in situ carcinoma that is located_in the nasal cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D02.3"^^xsd:string) AnnotationAssertion( "carcinoma in situ of nasal cavities"^^xsd:string) AnnotationAssertion( "carcinoma in situ of nasal cavity"^^xsd:string) AnnotationAssertion( "stage 0 carcinoma of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6148"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leukopenia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Leukopenia"^^xsd:string) "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004233"^^xsd:string) AnnotationAssertion( "ICD10CM:D72.819"^^xsd:string) AnnotationAssertion( "ICD9CM:288.50"^^xsd:string) AnnotationAssertion( "MESH:D007970"^^xsd:string) AnnotationAssertion( "leucopenia"^^xsd:string) AnnotationAssertion( "leukocytopenia"^^xsd:string) AnnotationAssertion( "leukocytopenias"^^xsd:string) AnnotationAssertion( "leukopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:615"^^xsd:string) AnnotationAssertion(rdfs:label "leukopenia"^^xsd:string) SubClassOf( ) # Class: (childhood choriocarcinoma of the testis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/"^^xsd:string) "A choriocarcinoma of the testis that is present during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6544"^^xsd:string) AnnotationAssertion( "pediatric testicular choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6160"^^xsd:string) AnnotationAssertion(rdfs:label "childhood choriocarcinoma of the testis"^^xsd:string) SubClassOf( ) # Class: (childhood testicular mixed germ cell tumor) AnnotationAssertion( "NCI:C6542"^^xsd:string) AnnotationAssertion( "childhood testicular mixed germ cell tumour"^^xsd:string) AnnotationAssertion( "paediatric testicular mixed germ cell tumour"^^xsd:string) AnnotationAssertion( "pediatric testicular mixed germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6161"^^xsd:string) AnnotationAssertion(rdfs:label "childhood testicular mixed germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (childhood embryonal testis carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma"^^xsd:string) "An embryonal testis carcinoma that occurs in children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9070/3"^^xsd:string) AnnotationAssertion( "NCI:C6545"^^xsd:string) AnnotationAssertion( "RDO:9003728"^^xsd:string) AnnotationAssertion( "pediatric testicular Embryonal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "childhood embryonal carcinoma of the testis"^^xsd:string) AnnotationAssertion( "DOID:6162"^^xsd:string) AnnotationAssertion(rdfs:label "childhood embryonal testis carcinoma"^^xsd:string) SubClassOf( ) # Class: (familial renal papillary carcinoma) AnnotationAssertion( "NCI:C9222"^^xsd:string) AnnotationAssertion( "hereditary papillary renal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6163"^^xsd:string) AnnotationAssertion(rdfs:label "familial renal papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostatic urethra urothelial carcinoma) AnnotationAssertion( "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. (NCI)"^^xsd:string) AnnotationAssertion( "NCI:C39900"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6166"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic urethra urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (prostatic urethral cancer) AnnotationAssertion( "NCI:C39870"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6167"^^xsd:string) AnnotationAssertion(rdfs:label "prostatic urethral cancer"^^xsd:string) SubClassOf( ) # Class: (ovarian carcinosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/"^^xsd:string) "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000412"^^xsd:string) AnnotationAssertion( "GARD:7296"^^xsd:string) AnnotationAssertion( "NCI:C9192"^^xsd:string) AnnotationAssertion( "ORDO:213512"^^xsd:string) AnnotationAssertion( "malignant mixed Müllerian tumor of the ovary"^^xsd:string) AnnotationAssertion( "ovarian MMMT"^^xsd:string) AnnotationAssertion( "ovarian malignant mesodermal (mullerian) mixed tumor"^^xsd:string) AnnotationAssertion( "ovarian malignant mixed Mullerian tumor"^^xsd:string) AnnotationAssertion( "ovarian malignant mixed Müllerian tumor"^^xsd:string) AnnotationAssertion( "ovarian malignant mixed epithelial mesenchymal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6170"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian carcinosarcoma"^^xsd:string) SubClassOf( ) # Class: (uterine carcinosarcoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Carcinosarcoma"^^xsd:string) "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000613"^^xsd:string) AnnotationAssertion( "GARD:12335"^^xsd:string) AnnotationAssertion( "MESH:D018200"^^xsd:string) AnnotationAssertion( "NCI:C42700"^^xsd:string) AnnotationAssertion( "ORDO:213610"^^xsd:string) AnnotationAssertion( "Carcinosarcoma of uterus"^^xsd:string) AnnotationAssertion( "MMMT"^^xsd:string) AnnotationAssertion( "Malignant mixed Mullerian tumour of uterus"^^xsd:string) AnnotationAssertion( "Mullerian mixed tumor"^^xsd:string) AnnotationAssertion( "malignant mixed Mullerian tumor"^^xsd:string) AnnotationAssertion( "malignant mixed mesodermal (Mullerian) tumor"^^xsd:string) AnnotationAssertion( "mixed mesodermal (Mullerian) tumor"^^xsd:string) AnnotationAssertion( "mixed mullerian sarcoma of uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6171"^^xsd:string) AnnotationAssertion(rdfs:label "uterine carcinosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (mediastinal neurilemmoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25992358"^^xsd:string) "A neurilemmoma located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:7922"^^xsd:string) AnnotationAssertion( "NCI:C6625"^^xsd:string) AnnotationAssertion( "NCI:C6643"^^xsd:string) AnnotationAssertion( "benign mediastinal neurilemmoma"^^xsd:string) AnnotationAssertion( "benign schwannoma of mediastinum"^^xsd:string) AnnotationAssertion( "schwannoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6175"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal neurilemmoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ovarian small cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/"^^xsd:string) "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000431"^^xsd:string) AnnotationAssertion( "GARD:10411"^^xsd:string) AnnotationAssertion( "NCI:C27390"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "small cell carcinoma of the ovary, hypercalcemic type"^^xsd:string) AnnotationAssertion( "DOID:6179"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (rectum Kaposi's sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp"^^xsd:string) "A sarcoma of the rectum that results_in lesions that are located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5550"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of rectum"^^xsd:string) AnnotationAssertion( "rectum Kaposi sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6190"^^xsd:string) AnnotationAssertion(rdfs:label "rectum Kaposi's sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant inflammatory fibrous histiocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000608"^^xsd:string) AnnotationAssertion( "NCI:C6497"^^xsd:string) AnnotationAssertion( "inflammatory MFH"^^xsd:string) AnnotationAssertion( "xanthosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6192"^^xsd:string) AnnotationAssertion(rdfs:label "malignant inflammatory fibrous histiocytoma"^^xsd:string) SubClassOf( ) # Class: (epithelioid sarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Epithelioid_sarcoma"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420"^^xsd:string) "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10181"^^xsd:string) AnnotationAssertion( "ICDO:8804/3"^^xsd:string) AnnotationAssertion( "NCI:C3714"^^xsd:string) AnnotationAssertion( "epithelioid cell sarcoma"^^xsd:string) AnnotationAssertion( "epithelioid sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6193"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (conjunctivitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Conjunctivitis"^^xsd:string) "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009450"^^xsd:string) AnnotationAssertion( "ICD10CM:H10"^^xsd:string) AnnotationAssertion( "ICD9CM:372.30"^^xsd:string) AnnotationAssertion( "MESH:D003231"^^xsd:string) AnnotationAssertion( "NCI:C34504"^^xsd:string) AnnotationAssertion( "conjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Madras eye"^^xsd:string) AnnotationAssertion( "DOID:6195"^^xsd:string) AnnotationAssertion(rdfs:label "conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (reactive arthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Reactive_arthritis"^^xsd:string) Annotation( "http://www.about-reactive-arthritis.com/"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm"^^xsd:string) "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007460"^^xsd:string) AnnotationAssertion( "GARD:5693"^^xsd:string) AnnotationAssertion( "ICD10CM:M02.10"^^xsd:string) AnnotationAssertion( "ICD10CM:M02.3"^^xsd:string) AnnotationAssertion( "ICD9CM:099.3"^^xsd:string) AnnotationAssertion( "ICD9CM:711.30"^^xsd:string) AnnotationAssertion( "MESH:D016918"^^xsd:string) AnnotationAssertion( "NCI:C34975"^^xsd:string) AnnotationAssertion( "Fiessinger Leroy Reiter syndrome"^^xsd:string) AnnotationAssertion( "Post Infectious Arthritis"^^xsd:string) AnnotationAssertion( "Post-Infectious Arthritides"^^xsd:string) AnnotationAssertion( "Postinfectious Arthritides"^^xsd:string) AnnotationAssertion( "Postinfectious Arthritis"^^xsd:string) AnnotationAssertion( "Reactive Arthritides"^^xsd:string) AnnotationAssertion( "Reiter Disease"^^xsd:string) AnnotationAssertion( "Reiter Syndrome"^^xsd:string) AnnotationAssertion( "Reiter's Disease"^^xsd:string) AnnotationAssertion( "Reiters Disease"^^xsd:string) AnnotationAssertion( "post-bacterial arthropathy"^^xsd:string) AnnotationAssertion( "postdysenteric arthropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6196"^^xsd:string) AnnotationAssertion(rdfs:label "reactive arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (conventional malignant hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9425"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6197"^^xsd:string) AnnotationAssertion(rdfs:label "conventional malignant hemangiopericytoma"^^xsd:string) SubClassOf( ) # Class: (corneal intraepithelial neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6093"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6198"^^xsd:string) AnnotationAssertion(rdfs:label "corneal intraepithelial neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cornea cancer) AnnotationAssertion( "ICD10CM:C69.1"^^xsd:string) AnnotationAssertion( "ICD9CM:190.4"^^xsd:string) AnnotationAssertion( "NCI:C3565"^^xsd:string) AnnotationAssertion( "NCI:C4361"^^xsd:string) AnnotationAssertion( "corneal tumor"^^xsd:string) AnnotationAssertion( "malignant corneal tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of cornea"^^xsd:string) AnnotationAssertion( "malignant tumor of cornea"^^xsd:string) AnnotationAssertion( "neoplasm of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6199"^^xsd:string) AnnotationAssertion(rdfs:label "cornea cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aortic valve disease) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117"^^xsd:string) "A heart valve disease that is located_in the aortic valve. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009531"^^xsd:string) AnnotationAssertion( "ICD9CM:424.1"^^xsd:string) AnnotationAssertion( "MESH:D000082862"^^xsd:string) AnnotationAssertion( "NCI:C78650"^^xsd:string) AnnotationAssertion( "aortic heart disease"^^xsd:string) AnnotationAssertion( "aortic valve disorder"^^xsd:string) AnnotationAssertion( "aortic valvular heart disease"^^xsd:string) AnnotationAssertion( "aortic valvular heart disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:62"^^xsd:string) AnnotationAssertion(rdfs:label "aortic valve disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blood protein disease) AnnotationAssertion(Annotation( "MESH:D001796"^^xsd:string) "Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS."^^xsd:string) AnnotationAssertion( "MESH:D001796"^^xsd:string) AnnotationAssertion( "blood protein disorder"^^xsd:string) AnnotationAssertion( "blood protein disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:620"^^xsd:string) AnnotationAssertion(rdfs:label "blood protein disease"^^xsd:string) SubClassOf( ) # Class: (pericardial mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C45.2"^^xsd:string) AnnotationAssertion( "NCI:C7631"^^xsd:string) AnnotationAssertion( "NCI:C7632"^^xsd:string) AnnotationAssertion( "NCI:C8703"^^xsd:string) AnnotationAssertion( "RDO:9002748"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7631"^^xsd:string) "malignant Pericardial Mesothelioma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187885008"^^xsd:string) "malignant mesothelioma of pericardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6201"^^xsd:string) AnnotationAssertion(rdfs:label "pericardial mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid hyalinizing trabecular adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000588"^^xsd:string) AnnotationAssertion( "NCI:C6846"^^xsd:string) AnnotationAssertion( "PLAT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6203"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid hyalinizing trabecular adenoma"^^xsd:string) SubClassOf( ) # Class: (follicular adenoma) AnnotationAssertion( "EFO:0000499"^^xsd:string) AnnotationAssertion( "ICDO:8330/0"^^xsd:string) AnnotationAssertion( "follicular adenoma of the thyroid gland"^^xsd:string) AnnotationAssertion( "follicular adenomas"^^xsd:string) AnnotationAssertion( "follicular thyroid adenoma"^^xsd:string) AnnotationAssertion( "thyroid gland follicular adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6204"^^xsd:string) AnnotationAssertion(rdfs:label "follicular adenoma"^^xsd:string) SubClassOf( ) # Class: (mediastinal osteogenic sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6615"^^xsd:string) AnnotationAssertion( "osteosarcoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6208"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal osteogenic sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant mediastinum hemangiopericytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/7967247/"^^xsd:string) "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6608"^^xsd:string) AnnotationAssertion( "malignant hemangiopericytoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6209"^^xsd:string) AnnotationAssertion(rdfs:label "malignant mediastinum hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder diffuse clear cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39849"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6210"^^xsd:string) AnnotationAssertion(rdfs:label "bladder diffuse clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (mixed epithelial tumor of ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/"^^xsd:string) "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000114"^^xsd:string) AnnotationAssertion( "EFO:1000425"^^xsd:string) AnnotationAssertion( "NCI:C4508"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4508"^^xsd:string) "Ovarian mixed epithelial tumor"^^xsd:string) AnnotationAssertion( "Ovarian mixed epithelial tumour"^^xsd:string) AnnotationAssertion( "mixed epithelial tumour of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6211"^^xsd:string) AnnotationAssertion(rdfs:label "mixed epithelial tumor of ovary"^^xsd:string) SubClassOf( ) # Class: (ovarian endometrial cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Endometrial_cancer"^^xsd:string) "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40051"^^xsd:string) AnnotationAssertion( "NCI:C6257"^^xsd:string) AnnotationAssertion( "RDO:9001895"^^xsd:string) AnnotationAssertion( "endometrioid neoplasm of ovary"^^xsd:string) AnnotationAssertion( "malignant ovarian endometrioid tumor"^^xsd:string) AnnotationAssertion( "ovarian endometrioid neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6212"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrial cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian papillary neoplasm) AnnotationAssertion(Annotation( "https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171"^^xsd:string) "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8430"^^xsd:string) AnnotationAssertion( "ovarian papillary tumor"^^xsd:string) AnnotationAssertion( "ovarian papillary tumour"^^xsd:string) AnnotationAssertion( "papillary tumor of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6214"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian papillary neoplasm"^^xsd:string) SubClassOf( ) # Class: (gastric diffuse adenocarcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159"^^xsd:string) "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000402"^^xsd:string) AnnotationAssertion( "NCI:C4127"^^xsd:string) AnnotationAssertion( "NCI:C9159"^^xsd:string) AnnotationAssertion( "adenocarcinoma of linitis plastica type"^^xsd:string) AnnotationAssertion( "diffuse type adenocarcinoma"^^xsd:string) AnnotationAssertion( "diffuse type carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6217"^^xsd:string) AnnotationAssertion(rdfs:label "gastric diffuse adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Cronkhite-Canada syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21881972/"^^xsd:string) "A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. (DO)"^^xsd:string) AnnotationAssertion( "MIM:175500"^^xsd:string) AnnotationAssertion( "MESH:D044483"^^xsd:string) AnnotationAssertion( "NCI:C7035"^^xsd:string) AnnotationAssertion( "Gastrointestinal Polyposis"^^xsd:string) AnnotationAssertion( "Intestinal Polyposis"^^xsd:string) AnnotationAssertion( "gastric Cronkhite Canada polyposis"^^xsd:string) AnnotationAssertion( "polyposis, skin pigmentation, alopecia, and fingernail changes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6225"^^xsd:string) AnnotationAssertion(rdfs:label "Cronkhite-Canada syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (articular cartilage disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/cartilagedisorders.html"^^xsd:string) "A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:718.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6227"^^xsd:string) AnnotationAssertion(rdfs:label "articular cartilage disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peritoneal serous papillary adenocarcinoma) AnnotationAssertion( "NCI:C7695"^^xsd:string) AnnotationAssertion( "primary serous papillary carcinoma of peritoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6228"^^xsd:string) AnnotationAssertion(rdfs:label "peritoneal serous papillary adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood mature teratoma of the ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30165903"^^xsd:string) "A mature teratoma of the ovary that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6548"^^xsd:string) AnnotationAssertion( "pediatric mature teratoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6229"^^xsd:string) AnnotationAssertion(rdfs:label "childhood mature teratoma of the ovary"^^xsd:string) SubClassOf( ) # Class: (childhood teratoma of the ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/682093"^^xsd:string) "An ovarian germ cell teratoma that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6554"^^xsd:string) AnnotationAssertion( "pediatric teratoma of Ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6230"^^xsd:string) AnnotationAssertion(rdfs:label "childhood teratoma of the ovary"^^xsd:string) SubClassOf( ) # Class: (mature teratoma of the ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20212374"^^xsd:string) "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8112"^^xsd:string) AnnotationAssertion( "mature teratoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6231"^^xsd:string) AnnotationAssertion(rdfs:label "mature teratoma of the ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian biphasic or triphasic teratoma) AnnotationAssertion(Annotation( "https://www.tandfonline.com/doi/abs/10.1586/eog.10.80"^^xsd:string) "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39992"^^xsd:string) AnnotationAssertion( "RDO:9004029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6232"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian biphasic or triphasic teratoma"^^xsd:string) SubClassOf( ) # Class: (non-invasive bladder papillary urothelial neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27884"^^xsd:string) AnnotationAssertion( "NCI:C39831"^^xsd:string) AnnotationAssertion( "RDO:9004449"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128625004"^^xsd:string) "Papillary urothelial neoplasm of low malignant potential"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27884"^^xsd:string) "bladder PUNLMP"^^xsd:string) AnnotationAssertion( "bladder papillary neoplasm of low malignant potential"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6239"^^xsd:string) AnnotationAssertion(rdfs:label "non-invasive bladder papillary urothelial neoplasm"^^xsd:string) SubClassOf( ) # Class: (transient hypogammaglobulinemia of infancy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D80.7"^^xsd:string) AnnotationAssertion( "NCI:C27071"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:624"^^xsd:string) AnnotationAssertion(rdfs:label "transient hypogammaglobulinemia of infancy"^^xsd:string) SubClassOf( ) # Class: (familial renal oncocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8960"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6244"^^xsd:string) AnnotationAssertion(rdfs:label "familial renal oncocytoma"^^xsd:string) SubClassOf( ) # Class: (renal oncocytoma) AnnotationAssertion( "Benign oxyphilic adenomas which occur in the kidney. They consist mostly of abnormal epithelial cells that are larger than renal carcinoma cells. [MESH]"^^xsd:string) AnnotationAssertion( "MIM:553000"^^xsd:string) AnnotationAssertion( "EFO:1000315"^^xsd:string) AnnotationAssertion( "GARD:8477"^^xsd:string) AnnotationAssertion( "MESH:C537750"^^xsd:string) AnnotationAssertion( "MONDO:0003825"^^xsd:string) AnnotationAssertion( "NCI:C4526"^^xsd:string) AnnotationAssertion( "kidney oncocytoma"^^xsd:string) AnnotationAssertion( "oncocytoma of kidney"^^xsd:string) AnnotationAssertion( "renal epithelial Oncocytic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6245"^^xsd:string) AnnotationAssertion(rdfs:label "renal oncocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinum seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6812"^^xsd:string) AnnotationAssertion( "seminoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6249"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinum seminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient hypogammaglobulinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27319"^^xsd:string) AnnotationAssertion( "RDO:9002595"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:625"^^xsd:string) AnnotationAssertion(rdfs:label "transient hypogammaglobulinemia"^^xsd:string) SubClassOf( ) # Class: (growth hormone secreting pituitary adenoma) AnnotationAssertion(Annotation( "MESH:D049912"^^xsd:string) "A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY."^^xsd:string) AnnotationAssertion( "EFO:0004125"^^xsd:string) AnnotationAssertion( "EFO:1000287"^^xsd:string) AnnotationAssertion( "MESH:D049912"^^xsd:string) AnnotationAssertion( "NCI:C7461"^^xsd:string) AnnotationAssertion( "ACROMEGALY DUE TO PITUITARY ADENOMA 1"^^xsd:string) AnnotationAssertion( "FIS"^^xsd:string) AnnotationAssertion( "GH Secreting Pituitary Adenoma"^^xsd:string) AnnotationAssertion( "GH-Secreting Pituitary Adenomas"^^xsd:string) AnnotationAssertion( "IFS"^^xsd:string) AnnotationAssertion( "Isolated Familial Somatotropinoma"^^xsd:string) AnnotationAssertion( "Somatotroph Adenoma"^^xsd:string) AnnotationAssertion( "Somatotroph Adenomas"^^xsd:string) AnnotationAssertion( "acromegaly due to pituitary adenoma"^^xsd:string) AnnotationAssertion( "familial somatotrophinoma"^^xsd:string) AnnotationAssertion( "growth hormone producing adenoma of the pituitary"^^xsd:string) AnnotationAssertion( "growth hormone secreting adenoma of pituitary"^^xsd:string) AnnotationAssertion( "FIPA"^^xsd:string) AnnotationAssertion( "PAGH1 PITUITARY ADENOMA PREDISPOSITION"^^xsd:string) AnnotationAssertion( "PAP"^^xsd:string) AnnotationAssertion( "PITUITARY ADENOMA, FAMILIAL ISOLATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6255"^^xsd:string) AnnotationAssertion(rdfs:label "growth hormone secreting pituitary adenoma"^^xsd:string) SubClassOf( ) # Class: (malignant growth hormone secreting neoplasm of pituitary) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5963"^^xsd:string) AnnotationAssertion( "malignant somatotropinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6256"^^xsd:string) AnnotationAssertion(rdfs:label "malignant growth hormone secreting neoplasm of pituitary"^^xsd:string) SubClassOf( ) # Class: (chromophil adenoma of the kidney) AnnotationAssertion( "NCI:C3687"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3687"^^xsd:string) "Papillary adenoma of the kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6257"^^xsd:string) AnnotationAssertion(rdfs:label "chromophil adenoma of the kidney"^^xsd:string) SubClassOf( ) # Class: (type 1 papillary adenoma of the kidney) AnnotationAssertion( "NCI:C39809"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6258"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 papillary adenoma of the kidney"^^xsd:string) SubClassOf( ) # Class: (type 2 papillary adenoma of the kidney) AnnotationAssertion( "NCI:C39810"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6259"^^xsd:string) AnnotationAssertion(rdfs:label "type 2 papillary adenoma of the kidney"^^xsd:string) SubClassOf( ) # Class: (complement deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Complement_deficiency"^^xsd:string) "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000081208"^^xsd:string) AnnotationAssertion( "NCI:C4691"^^xsd:string) AnnotationAssertion( "complement deficiency disease"^^xsd:string) AnnotationAssertion( "hereditary complement deficiency disease"^^xsd:string) AnnotationAssertion( "hereditary complement deficiency diseases"^^xsd:string) AnnotationAssertion( "inherited complement deficiency disease"^^xsd:string) AnnotationAssertion( "inherited complement deficiency diseases"^^xsd:string) AnnotationAssertion( "immunodeficiency due to a late component of complement deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:626"^^xsd:string) AnnotationAssertion(rdfs:label "complement deficiency"^^xsd:string) SubClassOf( ) # Class: (follicular dendritic cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma"^^xsd:string) "A dendritic cell sarcoma cancer that effects the follicular dendritic cells. (DO)"^^xsd:string) AnnotationAssertion( "DOID:7849"^^xsd:string) AnnotationAssertion( "RDO:0007686"^^xsd:string) AnnotationAssertion( "EFO:0007276"^^xsd:string) AnnotationAssertion( "ICDO:9758/3"^^xsd:string) AnnotationAssertion( "MESH:D054740"^^xsd:string) AnnotationAssertion( "NCI:C9281"^^xsd:string) AnnotationAssertion( "follicular dendritic cell tumour"^^xsd:string) AnnotationAssertion( "EBV-POSITIVE INFLAMMATORY FOLLICULAR DENDRITIC CELL SARCOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6262"^^xsd:string) AnnotationAssertion(rdfs:label "follicular dendritic cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inflammatory breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/"^^xsd:string) "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000984"^^xsd:string) AnnotationAssertion( "NCI:C4001"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254840009"^^xsd:string) "Inflammatory carcinoma of breast"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4001"^^xsd:string) "Mastitis carcinomatosa"^^xsd:string) AnnotationAssertion( "inflammatory breast carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6263"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (severe combined immunodeficiency) AnnotationAssertion(Annotation( "http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency"^^xsd:string) Annotation( "http://www.scid.net/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency"^^xsd:string) "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000220"^^xsd:string) AnnotationAssertion( "GARD:7628"^^xsd:string) AnnotationAssertion( "MESH:D016511"^^xsd:string) AnnotationAssertion( "MIM:PS601457"^^xsd:string) AnnotationAssertion( "NCI:C3472"^^xsd:string) AnnotationAssertion( "Bare Lymphocyte Syndrome"^^xsd:string) AnnotationAssertion( "Familial Reticuloendotheliosis"^^xsd:string) AnnotationAssertion( "SCID"^^xsd:string) AnnotationAssertion( "Severe Combined Immune Deficiency"^^xsd:string) AnnotationAssertion( "Severe Combined Immunodeficiencies"^^xsd:string) AnnotationAssertion( "bare lymphocyte syndromes"^^xsd:string) AnnotationAssertion( "combined T and B cell inborn immunodeficiency"^^xsd:string) AnnotationAssertion( "familial reticuloendothelioses"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency disease"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "severe combined immunologic deficiency"^^xsd:string) AnnotationAssertion( "Severe combined immunodeficiency disease, autosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:627"^^xsd:string) AnnotationAssertion(rdfs:label "severe combined immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastric cardia carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001252"^^xsd:string) AnnotationAssertion( "NCI:C6794"^^xsd:string) AnnotationAssertion( "carcinoma of cardia of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6270"^^xsd:string) AnnotationAssertion(rdfs:label "gastric cardia carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric cardia adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5247"^^xsd:string) AnnotationAssertion( "RDO:9001923"^^xsd:string) AnnotationAssertion( "adenocarcinoma of Cardia of stomach"^^xsd:string) AnnotationAssertion( "adenocarcinoma of gastric cardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6271"^^xsd:string) AnnotationAssertion(rdfs:label "gastric cardia adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant thyroid stimulating hormone producing neoplasm of pituitary gland) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5965"^^xsd:string) AnnotationAssertion( "malignant thyrotropinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6274"^^xsd:string) AnnotationAssertion(rdfs:label "malignant thyroid stimulating hormone producing neoplasm of pituitary gland"^^xsd:string) SubClassOf( ) # Class: (TSH producing pituitary tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7915"^^xsd:string) AnnotationAssertion( "TSH Secreting tumour of Pituitary"^^xsd:string) AnnotationAssertion( "TSH producing pituitary tumour"^^xsd:string) AnnotationAssertion( "TSH secreting adenoma of the pituitary"^^xsd:string) AnnotationAssertion( "TSH secreting tumor of pituitary"^^xsd:string) AnnotationAssertion( "thyrotroph adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6275"^^xsd:string) AnnotationAssertion(rdfs:label "TSH producing pituitary tumor"^^xsd:string) SubClassOf( ) # Class: (malignant ACTH producing neoplasm of pituitary gland) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000067"^^xsd:string) AnnotationAssertion( "NCI:C5964"^^xsd:string) AnnotationAssertion( "ACTH-producing pituitary gland carcinoma"^^xsd:string) AnnotationAssertion( "malignant corticotropinoma of the pituitary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6276"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ACTH producing neoplasm of pituitary gland"^^xsd:string) SubClassOf( ) # Class: (ovarian mucinous malignant adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23297622"^^xsd:string) "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40034"^^xsd:string) AnnotationAssertion( "ovarian mucinous adenocarcinofibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6278"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous malignant adenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (combined T cell and B cell immunodeficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Combined_immunodeficiencies"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1"^^xsd:string) Annotation( "https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2"^^xsd:string) "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)"^^xsd:string) AnnotationAssertion( "MIM:312863"^^xsd:string) AnnotationAssertion( "OMIA:000899"^^xsd:string) AnnotationAssertion( "ICD10CM:D81"^^xsd:string) AnnotationAssertion( "ICD9CM:279.2"^^xsd:string) AnnotationAssertion( "MESH:D053632"^^xsd:string) AnnotationAssertion( "NCI:C27871"^^xsd:string) AnnotationAssertion( "ORDO:101972"^^xsd:string) AnnotationAssertion( "CIDX"^^xsd:string) AnnotationAssertion( "COMBINED T AND B CELL IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "IMD6"^^xsd:string) AnnotationAssertion( "X-Linked Combined Immunodeficiency Diseases"^^xsd:string) AnnotationAssertion( "X-linked combined immunodeficiencies"^^xsd:string) AnnotationAssertion( "X-linked combined immunodeficiency"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency disease"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency diseases"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "X-linked immunodeficiency syndromes"^^xsd:string) AnnotationAssertion( "XCID"^^xsd:string) AnnotationAssertion( "congenital combined immunodeficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency 6"^^xsd:string) AnnotationAssertion( "Combined immunodeficiency, X-linked, moderate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:628"^^xsd:string) AnnotationAssertion(rdfs:label "combined T cell and B cell immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epicardium lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23438624"^^xsd:string) "A heart lipoma that is located_in the epicardium and derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6742"^^xsd:string) AnnotationAssertion( "lipoma of epicardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6284"^^xsd:string) AnnotationAssertion(rdfs:label "epicardium lipoma"^^xsd:string) SubClassOf( ) # Class: (heart lipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6741"^^xsd:string) AnnotationAssertion( "lipoma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6285"^^xsd:string) AnnotationAssertion(rdfs:label "heart lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood cerebellar astrocytic neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6286"^^xsd:string) AnnotationAssertion( "pediatric astrocytoma of cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6286"^^xsd:string) AnnotationAssertion(rdfs:label "childhood cerebellar astrocytic neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral hemisphere lipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6220"^^xsd:string) AnnotationAssertion( "RDO:9004700"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6220"^^xsd:string) "Lipoma of the Cerebral Hemisphere"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6291"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral hemisphere lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12597248"^^xsd:string) "A central nervous system benign neoplasm that derives_from fat cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5451"^^xsd:string) AnnotationAssertion( "RDO:9004396"^^xsd:string) AnnotationAssertion( "lipoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6293"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (corpus callosum lipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5438"^^xsd:string) AnnotationAssertion( "RDO:9004701"^^xsd:string) AnnotationAssertion( "LIPOMA OF CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "lipoma of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6294"^^xsd:string) AnnotationAssertion(rdfs:label "corpus callosum lipoma"^^xsd:string) SubClassOf( ) # Class: (viral esophagitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27108"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6297"^^xsd:string) AnnotationAssertion(rdfs:label "viral esophagitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (genetic disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/"^^xsd:string) "A disease that has_material_basis_in genetic variations in the human genome. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000508"^^xsd:string) AnnotationAssertion( "EFO:0004904"^^xsd:string) AnnotationAssertion( "MESH:D030342"^^xsd:string) AnnotationAssertion( "NCI:C3101"^^xsd:string) AnnotationAssertion( "Genetic Disorder"^^xsd:string) AnnotationAssertion( "Genetic Disorders"^^xsd:string) AnnotationAssertion( "HEREDITARY DISORDER"^^xsd:string) AnnotationAssertion( "Hereditary Disease"^^xsd:string) AnnotationAssertion( "Hereditary Diseases"^^xsd:string) AnnotationAssertion( "Inborn Genetic Disease"^^xsd:string) AnnotationAssertion( "genetic diseases"^^xsd:string) AnnotationAssertion( "hereditary genetic disorder"^^xsd:string) AnnotationAssertion( "inborn genetic diseases"^^xsd:string) AnnotationAssertion( "single gene defects"^^xsd:string) AnnotationAssertion( "single-gene defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:630"^^xsd:string) AnnotationAssertion(rdfs:label "genetic disease"^^xsd:string) SubClassOf( ) # Class: (ectopic thymus) AnnotationAssertion( "MONDO:0003848"^^xsd:string) AnnotationAssertion( "NCI:C27804"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6307"^^xsd:string) AnnotationAssertion(rdfs:label "ectopic thymus"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (fibromyalgia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30486733/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/32120395/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33024295/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/"^^xsd:string) "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005687"^^xsd:string) AnnotationAssertion( "ICD10CM:M79.7"^^xsd:string) AnnotationAssertion( "MESH:D005356"^^xsd:string) AnnotationAssertion( "NCI:C50566"^^xsd:string) AnnotationAssertion( "NCI:C87497"^^xsd:string) AnnotationAssertion( "Diffuse Myofascial Pain Syndrome"^^xsd:string) AnnotationAssertion( "Fibromyalgia Fibromyositis Syndrome"^^xsd:string) AnnotationAssertion( "Fibromyalgias"^^xsd:string) AnnotationAssertion( "Fibrositides"^^xsd:string) AnnotationAssertion( "Fibrositis"^^xsd:string) AnnotationAssertion( "Muscular Rheumatism"^^xsd:string) AnnotationAssertion( "Primary Fibromyalgia"^^xsd:string) AnnotationAssertion( "Primary Fibromyalgias"^^xsd:string) AnnotationAssertion( "Secondary Fibromyalgia"^^xsd:string) AnnotationAssertion( "fibromyalgia-fibromyositis syndromes"^^xsd:string) AnnotationAssertion( "secondary fibromyalgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:631"^^xsd:string) AnnotationAssertion(rdfs:label "fibromyalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (clivus chordoma) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/"^^xsd:string) "A chordoma of skull base that is located in the clivus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5412"^^xsd:string) AnnotationAssertion( "chordoma of clivus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6312"^^xsd:string) AnnotationAssertion(rdfs:label "clivus chordoma"^^xsd:string) SubClassOf( ) # Class: (clivus chondroid chordoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/"^^xsd:string) "A chondroid chordoma and chordoma of the clivus that is located_in the clivus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5426"^^xsd:string) AnnotationAssertion( "chondroid chordoma of the clivus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6313"^^xsd:string) AnnotationAssertion(rdfs:label "clivus chondroid chordoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian fetiform teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28446797"^^xsd:string) "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39996"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6314"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian fetiform teratoma"^^xsd:string) SubClassOf( ) # Class: (ovarian solid teratoma) AnnotationAssertion(Annotation( "https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27636886"^^xsd:string) "A mature teratoma of the ovary that is predominantly solid with interspersed cysts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6315"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian solid teratoma"^^xsd:string) SubClassOf( ) # Class: (Bartholin's gland adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7272963"^^xsd:string) "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7719"^^xsd:string) AnnotationAssertion( "Bartholin gland adenocarcinoma"^^xsd:string) AnnotationAssertion( "adenocarcinoma of Bartholin's gland"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the Bartholin's gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6316"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tibial adamantinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30210255"^^xsd:string) "An adamantinoma of long bone that is located_in the tibia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000596"^^xsd:string) AnnotationAssertion( "NCI:C8461"^^xsd:string) AnnotationAssertion( "tibial adamantinoma morphology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6322"^^xsd:string) AnnotationAssertion(rdfs:label "tibial adamantinoma"^^xsd:string) SubClassOf( ) # Class: (myositis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/myositis.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Myositis"^^xsd:string) "A myopathy characterized by muscle inflammation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000783"^^xsd:string) AnnotationAssertion( "ICD10CM:M60"^^xsd:string) AnnotationAssertion( "ICD10CM:M60.9"^^xsd:string) AnnotationAssertion( "MESH:D009220"^^xsd:string) AnnotationAssertion( "NCI:C27578"^^xsd:string) AnnotationAssertion( "Focal Myositis"^^xsd:string) AnnotationAssertion( "Idiopathic Inflammatory Myopathies"^^xsd:string) AnnotationAssertion( "Idiopathic Inflammatory Myopathy"^^xsd:string) AnnotationAssertion( "Idiopathic Inflammatory Myositis"^^xsd:string) AnnotationAssertion( "Infectious Myositides"^^xsd:string) AnnotationAssertion( "Infectious Myositis"^^xsd:string) AnnotationAssertion( "Inflammatory Muscle Disease"^^xsd:string) AnnotationAssertion( "Inflammatory Muscle Diseases"^^xsd:string) AnnotationAssertion( "Inflammatory Myopathies"^^xsd:string) AnnotationAssertion( "Inflammatory Myopathy"^^xsd:string) AnnotationAssertion( "Myositides"^^xsd:string) AnnotationAssertion( "Proliferative Myositides"^^xsd:string) AnnotationAssertion( "focal myositides"^^xsd:string) AnnotationAssertion( "inflammatory disorder of muscle"^^xsd:string) AnnotationAssertion( "proliferative myositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:633"^^xsd:string) AnnotationAssertion(rdfs:label "myositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (immature teratoma of ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26142911"^^xsd:string) "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39995"^^xsd:string) AnnotationAssertion( "NCI:C8111"^^xsd:string) AnnotationAssertion( "ORDO:398987"^^xsd:string) AnnotationAssertion( "malignant teratoma of ovary"^^xsd:string) AnnotationAssertion( "ovarian immature teratoma"^^xsd:string) AnnotationAssertion( "ovarian malignant teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6331"^^xsd:string) AnnotationAssertion(rdfs:label "immature teratoma of ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult malignant hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7946"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6332"^^xsd:string) AnnotationAssertion(rdfs:label "adult malignant hemangiopericytoma"^^xsd:string) SubClassOf( ) # Class: (adult intracranial malignant hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6333"^^xsd:string) AnnotationAssertion(rdfs:label "adult intracranial malignant hemangiopericytoma"^^xsd:string) SubClassOf( ) # Class: (anterior optic tract meningioma) AnnotationAssertion( "NCI:C7538"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6334"^^xsd:string) AnnotationAssertion(rdfs:label "anterior optic tract meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bilateral meningioma of optic nerve) AnnotationAssertion( "MESH:C000608854"^^xsd:string) AnnotationAssertion( "NCI:C5304"^^xsd:string) AnnotationAssertion( "bilateral meningioma of the optic nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6335"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral meningioma of optic nerve"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellopontine angle meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5300"^^xsd:string) AnnotationAssertion( "cerebellar pontine angle meningioma"^^xsd:string) AnnotationAssertion( "meningioma of C-P angle"^^xsd:string) AnnotationAssertion( "meningioma of the cerebellar pontine angle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6337"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellopontine angle meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar eccrine adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27832810"^^xsd:string) "A vulva adenocarcinoma that has_material_basis_in eccrine glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40305"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6339"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar eccrine adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (melanotic psammomatous malignant peripheral nerve sheath tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6910"^^xsd:string) AnnotationAssertion( "melanocytic psammomatous MPNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6344"^^xsd:string) AnnotationAssertion(rdfs:label "melanotic psammomatous malignant peripheral nerve sheath tumor"^^xsd:string) SubClassOf( ) # Class: (malignant melanocytic neoplasm of the peripheral nerve sheath) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4748"^^xsd:string) AnnotationAssertion( "melanocytic MPNST"^^xsd:string) AnnotationAssertion( "melanotic malignant nerve sheath tumor"^^xsd:string) AnnotationAssertion( "melanotic malignant peripheral nerve sheath tumor"^^xsd:string) AnnotationAssertion( "melanotic malignant peripheral nerve sheath tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6345"^^xsd:string) AnnotationAssertion(rdfs:label "malignant melanocytic neoplasm of the peripheral nerve sheath"^^xsd:string) SubClassOf( ) # Class: (acquired immunodeficiency syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/AIDS"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids"^^xsd:string) "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000765"^^xsd:string) AnnotationAssertion( "EFO:0009528"^^xsd:string) AnnotationAssertion( "MESH:D000163"^^xsd:string) AnnotationAssertion( "NCI:C2851"^^xsd:string) AnnotationAssertion( "AIDS"^^xsd:string) AnnotationAssertion( "Acquired Immune Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Acquired Immuno Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Acquired Immunodeficiency Syndromes"^^xsd:string) AnnotationAssertion( "acquired immune deficiency"^^xsd:string) AnnotationAssertion( "acquired immuno-deficiency syndromes"^^xsd:string) AnnotationAssertion( "acquired immunologic deficiency syndrome"^^xsd:string) AnnotationAssertion( "AIDS-related disease"^^xsd:string) AnnotationAssertion( "acquired immunodeficiency syndrome, delayed progression to"^^xsd:string) AnnotationAssertion( "acquired immunodeficiency syndrome, rapid progression to"^^xsd:string) AnnotationAssertion( "acquired immunodeficiency syndrome, slow progression to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:635"^^xsd:string) AnnotationAssertion(rdfs:label "acquired immunodeficiency syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic lymphocytic leukemia/small lymphocytic lymphoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=641291"^^xsd:string) Annotation( "https://lymphoma.org/aboutlymphoma/cll/"^^xsd:string) "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9823/3"^^xsd:string) AnnotationAssertion( "NCI:C27911"^^xsd:string) AnnotationAssertion( "B-cell lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string) AnnotationAssertion( "CLL/SLL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6354"^^xsd:string) AnnotationAssertion(rdfs:label "chronic lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string) SubClassOf( ) # Class: (central pontine myelinolysis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Central_pontine_myelinolysis"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25220878/"^^xsd:string) "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000857"^^xsd:string) AnnotationAssertion( "GARD:8749"^^xsd:string) AnnotationAssertion( "ICD10CM:G37.2"^^xsd:string) AnnotationAssertion( "MESH:D017590"^^xsd:string) AnnotationAssertion( "NCI:C84623"^^xsd:string) AnnotationAssertion( "Central Pontine Myelinoclasis"^^xsd:string) AnnotationAssertion( "Extrapontine Myelinoclasis"^^xsd:string) AnnotationAssertion( "Extrapontine Myelinolyses"^^xsd:string) AnnotationAssertion( "extrapontine myelinoclases"^^xsd:string) AnnotationAssertion( "extrapontine myelinolysis"^^xsd:string) AnnotationAssertion( "osmotic demyelination syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:636"^^xsd:string) AnnotationAssertion(rdfs:label "central pontine myelinolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (migraine) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Migraine"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/migraine-headache/DS00120"^^xsd:string) "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:157300"^^xsd:string) AnnotationAssertion( "MIM:300125"^^xsd:string) AnnotationAssertion( "MIM:607498"^^xsd:string) AnnotationAssertion( "MIM:607508"^^xsd:string) AnnotationAssertion( "MIM:609570"^^xsd:string) AnnotationAssertion( "MIM:610208"^^xsd:string) AnnotationAssertion( "MIM:610209"^^xsd:string) AnnotationAssertion( "MIM:611706"^^xsd:string) AnnotationAssertion( "MIM:613656"^^xsd:string) AnnotationAssertion( "EFO:0003821"^^xsd:string) AnnotationAssertion( "ICD10CM:G43"^^xsd:string) AnnotationAssertion( "ICD9CM:346"^^xsd:string) AnnotationAssertion( "MESH:D008881"^^xsd:string) AnnotationAssertion( "MIM:PS157300"^^xsd:string) AnnotationAssertion( "MONDO:0005277"^^xsd:string) AnnotationAssertion( "NCI:C89715"^^xsd:string) AnnotationAssertion( "MA"^^xsd:string) AnnotationAssertion( "MFTS"^^xsd:string) AnnotationAssertion( "MGAU"^^xsd:string) AnnotationAssertion( "abdominal migraine"^^xsd:string) AnnotationAssertion( "abdominal migraines"^^xsd:string) AnnotationAssertion( "acute confusional migraine"^^xsd:string) AnnotationAssertion( "acute confusional migraines"^^xsd:string) AnnotationAssertion( "cervical migraine syndrome"^^xsd:string) AnnotationAssertion( "cervical migraine syndromes"^^xsd:string) AnnotationAssertion( "hemicrania migraine"^^xsd:string) AnnotationAssertion( "hemicrania migraines"^^xsd:string) AnnotationAssertion( "migraine disorder"^^xsd:string) AnnotationAssertion( "migraine disorders"^^xsd:string) AnnotationAssertion( "migraine headache"^^xsd:string) AnnotationAssertion( "migraine headaches"^^xsd:string) AnnotationAssertion( "migraine variant"^^xsd:string) AnnotationAssertion( "migraine variants"^^xsd:string) AnnotationAssertion( "migraine with or without aura"^^xsd:string) AnnotationAssertion( "migraines"^^xsd:string) AnnotationAssertion( "sick headache"^^xsd:string) AnnotationAssertion( "sick headaches"^^xsd:string) AnnotationAssertion( "status migrainosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MGR1"^^xsd:string) AnnotationAssertion( "MGR10"^^xsd:string) AnnotationAssertion( "MGR11"^^xsd:string) AnnotationAssertion( "MGR12"^^xsd:string) AnnotationAssertion( "MGR2"^^xsd:string) AnnotationAssertion( "MGR3"^^xsd:string) AnnotationAssertion( "MGR5"^^xsd:string) AnnotationAssertion( "MGR8"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 13"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "migraine, resistance to"^^xsd:string) AnnotationAssertion( "DOID:6364"^^xsd:string) AnnotationAssertion(rdfs:label "migraine"^^xsd:string) SubClassOf( ) # Class: (acral lentiginous melanoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Lentigo"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/"^^xsd:string) "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:9570"^^xsd:string) AnnotationAssertion( "NCI:C4022"^^xsd:string) AnnotationAssertion( "malignant acral lentiginous melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6367"^^xsd:string) AnnotationAssertion(rdfs:label "acral lentiginous melanoma"^^xsd:string) SubClassOf( ) # Class: (hepatic osteogenic sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5833"^^xsd:string) AnnotationAssertion( "osteosarcoma of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6370"^^xsd:string) AnnotationAssertion(rdfs:label "hepatic osteogenic sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypersplenism) AnnotationAssertion(Annotation( "MESH:D006971"^^xsd:string) "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy."^^xsd:string) AnnotationAssertion( "EFO:1000975"^^xsd:string) AnnotationAssertion( "ICD10CM:D73.1"^^xsd:string) AnnotationAssertion( "ICD9CM:289.4"^^xsd:string) AnnotationAssertion( "MESH:D006971"^^xsd:string) AnnotationAssertion( "NCI:C34714"^^xsd:string) AnnotationAssertion( "hypersplenia"^^xsd:string) AnnotationAssertion( "splenic anemia"^^xsd:string) AnnotationAssertion( "splenic anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6376"^^xsd:string) AnnotationAssertion(rdfs:label "hypersplenism"^^xsd:string) SubClassOf( ) # Class: (diffuse meningeal melanocytosis) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us"^^xsd:string) "A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000216"^^xsd:string) AnnotationAssertion( "ICDO:8728/0"^^xsd:string) AnnotationAssertion( "NCI:C6890"^^xsd:string) AnnotationAssertion( "ORDO:252031"^^xsd:string) AnnotationAssertion( "Meningeal melanocytosis"^^xsd:string) AnnotationAssertion( "diffuse melanocytosis"^^xsd:string) AnnotationAssertion( "diffuse melanosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6379"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse meningeal melanocytosis"^^xsd:string) SubClassOf( ) # Class: (anterior foramen magnum meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5281"^^xsd:string) AnnotationAssertion( "meningioma of the anterior foramen magnum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6381"^^xsd:string) AnnotationAssertion(rdfs:label "anterior foramen magnum meningioma"^^xsd:string) SubClassOf( ) # Class: (childhood brain stem glioma) AnnotationAssertion( "GARD:9306"^^xsd:string) AnnotationAssertion( "NCI:C9042"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9042"^^xsd:string) "pediatric glioma of the Brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6383"^^xsd:string) AnnotationAssertion(rdfs:label "childhood brain stem glioma"^^xsd:string) SubClassOf( ) # Class: (childhood brainstem astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9400/3"^^xsd:string) AnnotationAssertion( "NCI:C6216"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6386"^^xsd:string) AnnotationAssertion(rdfs:label "childhood brainstem astrocytoma"^^xsd:string) SubClassOf( ) # Class: (acute disseminated encephalomyelitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm"^^xsd:string) "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007130"^^xsd:string) AnnotationAssertion( "GARD:8639"^^xsd:string) AnnotationAssertion( "MESH:D004673"^^xsd:string) AnnotationAssertion( "NCI:C34578"^^xsd:string) AnnotationAssertion( "ADEM"^^xsd:string) AnnotationAssertion( "acute disseminated encephalitis"^^xsd:string) AnnotationAssertion( "acute disseminated encephalomyelitides"^^xsd:string) AnnotationAssertion( "postexanthem encephalomyelitis"^^xsd:string) AnnotationAssertion( "postinfectious encephalomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:639"^^xsd:string) AnnotationAssertion(rdfs:label "acute disseminated encephalomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (encephalomyelitis) AnnotationAssertion(Annotation( "MESH:D004679"^^xsd:string) "A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature."^^xsd:string) AnnotationAssertion( "EFO:0001423"^^xsd:string) AnnotationAssertion( "MESH:D004679"^^xsd:string) AnnotationAssertion( "NCI:C34580"^^xsd:string) AnnotationAssertion( "encephalitis &/or myelitis"^^xsd:string) AnnotationAssertion( "inflammatory encephalomyelitis"^^xsd:string) AnnotationAssertion( "myeloencephalitides"^^xsd:string) AnnotationAssertion( "myeloencephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:640"^^xsd:string) AnnotationAssertion(rdfs:label "encephalomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (metanephric adenoma) AnnotationAssertion( "EFO:1000373"^^xsd:string) AnnotationAssertion( "ICDO:8325/0"^^xsd:string) AnnotationAssertion( "NCI:C27253"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6404"^^xsd:string) AnnotationAssertion(rdfs:label "metanephric adenoma"^^xsd:string) SubClassOf( ) # Class: (ovarian papillary cystadenoma) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S0002961041905159"^^xsd:string) "An ovarian cystadenoma that is characterized by the presence of finger-like projections. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7278"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6405"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian papillary cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (double outlet right ventricle) AnnotationAssertion(Annotation( "MESH:D004310"^^xsd:string) "Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted."^^xsd:string) AnnotationAssertion( "GARD:1908"^^xsd:string) AnnotationAssertion( "ICD10CM:Q20.1"^^xsd:string) AnnotationAssertion( "ICD9CM:745.11"^^xsd:string) AnnotationAssertion( "MESH:D004310"^^xsd:string) AnnotationAssertion( "NCI:C98916"^^xsd:string) AnnotationAssertion( "ORDO:3426"^^xsd:string) AnnotationAssertion( "Double Outlet Right Ventricle, Noncommitted VSD"^^xsd:string) AnnotationAssertion( "Double Outlet Right Ventricle, Subaortic VSD"^^xsd:string) AnnotationAssertion( "Double Outlet Right Ventricle, Subpulmonary VSD"^^xsd:string) AnnotationAssertion( "Taussig Bing Anomaly"^^xsd:string) AnnotationAssertion( "Taussig-Bing syndrome or defect"^^xsd:string) AnnotationAssertion( "dextrotransposition of aorta"^^xsd:string) AnnotationAssertion( "double outlet right ventricle with subpulmonary ventricular septal defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6406"^^xsd:string) AnnotationAssertion(rdfs:label "double outlet right ventricle"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian surface papilloma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/439088"^^xsd:string) "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7279"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6407"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian surface papilloma"^^xsd:string) SubClassOf( ) # Class: (ovary papillary carcinoma) AnnotationAssertion(Annotation( "https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7185762"^^xsd:string) "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6256"^^xsd:string) AnnotationAssertion( "serous surface papillary carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6408"^^xsd:string) AnnotationAssertion(rdfs:label "ovary papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tetralogy of Fallot) AnnotationAssertion(Annotation( "MESH:D013771"^^xsd:string) "A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS."^^xsd:string) AnnotationAssertion( "MIM:187500"^^xsd:string) AnnotationAssertion( "EFO:0004894"^^xsd:string) AnnotationAssertion( "GARD:2245"^^xsd:string) AnnotationAssertion( "ICD10CM:Q21.3"^^xsd:string) AnnotationAssertion( "ICD9CM:745.2"^^xsd:string) AnnotationAssertion( "MESH:D013771"^^xsd:string) AnnotationAssertion( "NCI:C84505"^^xsd:string) AnnotationAssertion( "ORDO:3303"^^xsd:string) AnnotationAssertion( "Fallot tetralogy"^^xsd:string) AnnotationAssertion( "Fallot's tetralogy"^^xsd:string) AnnotationAssertion( "Fallots Tetralogy"^^xsd:string) AnnotationAssertion( "TOF"^^xsd:string) AnnotationAssertion( "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6419"^^xsd:string) AnnotationAssertion(rdfs:label "tetralogy of Fallot"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary valve stenosis) AnnotationAssertion(Annotation( "MESH:D011666"^^xsd:string) "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete."^^xsd:string) AnnotationAssertion( "MIM:265500"^^xsd:string) AnnotationAssertion( "EFO:1001138"^^xsd:string) AnnotationAssertion( "GARD:4596"^^xsd:string) AnnotationAssertion( "MESH:D011666"^^xsd:string) AnnotationAssertion( "NCI:C50715"^^xsd:string) AnnotationAssertion( "Pulmonary Stenose"^^xsd:string) AnnotationAssertion( "Pulmonary Stenosis"^^xsd:string) AnnotationAssertion( "Pulmonary Valve Stenoses"^^xsd:string) AnnotationAssertion( "Pulmonic Stenoses"^^xsd:string) AnnotationAssertion( "pulmonary stenoses"^^xsd:string) AnnotationAssertion( "pulmonic stenosis"^^xsd:string) AnnotationAssertion( "valvular pulmonic stenoses"^^xsd:string) AnnotationAssertion( "valvular pulmonic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6420"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary valve stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood central nervous system mature teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27404"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6423"^^xsd:string) AnnotationAssertion(rdfs:label "childhood central nervous system mature teratoma"^^xsd:string) SubClassOf( ) # Class: (eyelid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6078"^^xsd:string) AnnotationAssertion( "carcinoma of the eyelid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6425"^^xsd:string) AnnotationAssertion(rdfs:label "eyelid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cervical adenoid basal carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10872669"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25207054"^^xsd:string) "A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000160"^^xsd:string) AnnotationAssertion( "NCI:C40213"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6428"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenoid basal carcinoma"^^xsd:string) SubClassOf( ) # Class: (progressive multifocal leukoencephalopathy) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec16/ch217/ch217f.html"^^xsd:string) Annotation( "http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/pml/pml.htm"^^xsd:string) "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007455"^^xsd:string) AnnotationAssertion( "GARD:7468"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.2"^^xsd:string) AnnotationAssertion( "ICD9CM:046.3"^^xsd:string) AnnotationAssertion( "MESH:D007968"^^xsd:string) AnnotationAssertion( "NCI:C26815"^^xsd:string) AnnotationAssertion( "JC polyomavirus encephalitis"^^xsd:string) AnnotationAssertion( "JC polyomavirus encephalopathies"^^xsd:string) AnnotationAssertion( "JC polyomavirus encephalopathy"^^xsd:string) AnnotationAssertion( "PML"^^xsd:string) AnnotationAssertion( "progressive multifocal leukoencephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:643"^^xsd:string) AnnotationAssertion(rdfs:label "progressive multifocal leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary hypertension) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pulmonary_hypertension"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19555858"^^xsd:string) "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001361"^^xsd:string) AnnotationAssertion( "ICD10CM:I27.20"^^xsd:string) AnnotationAssertion( "MESH:D006976"^^xsd:string) AnnotationAssertion( "NCI:C3120"^^xsd:string) AnnotationAssertion( "PHT"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED"^^xsd:string) AnnotationAssertion( "primary pulmonary hypertension, fenfluramine-associated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6432"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant choroid melanoma) AnnotationAssertion( "EFO:0009093"^^xsd:string) AnnotationAssertion( "NCI:C4561"^^xsd:string) AnnotationAssertion( "choroidal melanoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:255021005"^^xsd:string) "malignant melanoma of choroid"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4561"^^xsd:string) "melanoma of the Choroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6438"^^xsd:string) AnnotationAssertion(rdfs:label "malignant choroid melanoma"^^xsd:string) SubClassOf( ) # Class: (ovarian endometrioid malignant adenofibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40060"^^xsd:string) AnnotationAssertion( "RDO:9001891"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6445"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrioid malignant adenofibroma"^^xsd:string) SubClassOf( ) # Class: (ceruminous adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8420/3"^^xsd:string) AnnotationAssertion( "NCI:C4176"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6446"^^xsd:string) AnnotationAssertion(rdfs:label "ceruminous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (vulvar apocrine adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24179652"^^xsd:string) "A vulva adenocarcinoma that has_material_basis_in apocrine glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40308"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6448"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar apocrine adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (central nervous system fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5465"^^xsd:string) AnnotationAssertion( "fibrosarcoma of the CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6451"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cowden syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cowden_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/cowden-syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1"^^xsd:string) "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6202"^^xsd:string) AnnotationAssertion( "ICDO:9493/0"^^xsd:string) AnnotationAssertion( "MIM:PS158350"^^xsd:string) AnnotationAssertion( "NCI:C3076"^^xsd:string) AnnotationAssertion( "NCI:C8419"^^xsd:string) AnnotationAssertion( "ORDO:201"^^xsd:string) AnnotationAssertion( "CD"^^xsd:string) AnnotationAssertion( "Cowden disease"^^xsd:string) AnnotationAssertion( "Cowden's disease"^^xsd:string) AnnotationAssertion( "Cowden's syndrome"^^xsd:string) AnnotationAssertion( "Cowdens disease"^^xsd:string) AnnotationAssertion( "Cowdens syndrome"^^xsd:string) AnnotationAssertion( "LDD"^^xsd:string) AnnotationAssertion( "Lhermitte-Duclos disease"^^xsd:string) AnnotationAssertion( "cerebellum dysplastic gangliocytoma"^^xsd:string) AnnotationAssertion( "cerebellum dysplastic gangliocytomas"^^xsd:string) AnnotationAssertion( "dysplastic gangliocytoma of cerebellum"^^xsd:string) AnnotationAssertion( "dysplastic gangliocytoma of the cerebellum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Cowden disease 3"^^xsd:string) AnnotationAssertion( "DOID:6457"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden syndrome"^^xsd:string) SubClassOf( ) # Class: (cerebellar liponeurocytoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33964714/"^^xsd:string) "A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000159"^^xsd:string) AnnotationAssertion( "GARD:10642"^^xsd:string) AnnotationAssertion( "NCI:C6905"^^xsd:string) AnnotationAssertion( "lipomatous medulloblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6458"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar liponeurocytoma"^^xsd:string) SubClassOf( ) # Class: (rectal lipoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22084744/"^^xsd:string) "A rectal benign neoplasm that has_material_basis_in fat tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5551"^^xsd:string) AnnotationAssertion( "lipoma of rectum"^^xsd:string) AnnotationAssertion( "lipoma of the rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6459"^^xsd:string) AnnotationAssertion(rdfs:label "rectal lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (viral encephalitis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/14978145"^^xsd:string) "An encephalitis that involves inflammation of the brain caused by viral infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007538"^^xsd:string) AnnotationAssertion( "MESH:D018792"^^xsd:string) AnnotationAssertion( "NCI:C34576"^^xsd:string) AnnotationAssertion( "epidemic encephalitides"^^xsd:string) AnnotationAssertion( "epidemic encephalitis"^^xsd:string) AnnotationAssertion( "viral infectious encephalomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:646"^^xsd:string) AnnotationAssertion(rdfs:label "viral encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (large intestine lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24950559"^^xsd:string) "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5678"^^xsd:string) AnnotationAssertion( "lipoma of large intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6460"^^xsd:string) AnnotationAssertion(rdfs:label "large intestine lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinous cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23297622"^^xsd:string) "A cystadenofibroma that is characterized by the presence of mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8979"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6468"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (ovarian mucinous adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1996729"^^xsd:string) "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40040"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6469"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous adenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood teratocarcinoma of the testis) AnnotationAssertion( "ICD-O:M9081/3"^^xsd:string) AnnotationAssertion( "NCI:C6539"^^xsd:string) AnnotationAssertion( "pediatric testicular teratocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6474"^^xsd:string) AnnotationAssertion(rdfs:label "childhood teratocarcinoma of the testis"^^xsd:string) SubClassOf( ) # Class: (clear cell variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39827"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6476"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (invasive bladder transitional cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27885"^^xsd:string) AnnotationAssertion( "invasive bladder urothelial carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6477"^^xsd:string) AnnotationAssertion(rdfs:label "invasive bladder transitional cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (kuru) AnnotationAssertion(Annotation( "MESH:D007729"^^xsd:string) "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)"^^xsd:string) AnnotationAssertion( "MIM:245300"^^xsd:string) AnnotationAssertion( "EFO:1001008"^^xsd:string) AnnotationAssertion( "GARD:7617"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.81"^^xsd:string) AnnotationAssertion( "ICD9CM:046.0"^^xsd:string) AnnotationAssertion( "MESH:D007729"^^xsd:string) AnnotationAssertion( "kuru encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "kuru, protection against"^^xsd:string) AnnotationAssertion( "kuru, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:648"^^xsd:string) AnnotationAssertion(rdfs:label "kuru"^^xsd:string) SubClassOf( ) # Class: (bladder signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6163"^^xsd:string) AnnotationAssertion( "urinary bladder signet ring adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "signet ring cell adenocarcinoma of bladder"^^xsd:string) AnnotationAssertion( "DOID:6481"^^xsd:string) AnnotationAssertion(rdfs:label "bladder signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung acinar adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5649"^^xsd:string) AnnotationAssertion( "acinar adenocarcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6482"^^xsd:string) AnnotationAssertion(rdfs:label "lung acinar adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (rete testis adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10320920"^^xsd:string) "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39956"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6483"^^xsd:string) AnnotationAssertion(rdfs:label "rete testis adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mediastinal melanocytic neurilemmoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6635"^^xsd:string) AnnotationAssertion( "mediastinal melanotic schwannoma"^^xsd:string) AnnotationAssertion( "melanocytic schwannoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6484"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal melanocytic neurilemmoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periosteal osteogenic sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8970"^^xsd:string) AnnotationAssertion( "periosteal osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6489"^^xsd:string) AnnotationAssertion(rdfs:label "periosteal osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (prion disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Prion"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvrd/prions/"^^xsd:string) "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004720"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.9"^^xsd:string) AnnotationAssertion( "MESH:D017096"^^xsd:string) AnnotationAssertion( "NCI:C128346"^^xsd:string) AnnotationAssertion( "Prion Induced Disorder"^^xsd:string) AnnotationAssertion( "Prion Protein Disease"^^xsd:string) AnnotationAssertion( "Prion Protein Diseases"^^xsd:string) AnnotationAssertion( "Prion-Associated Disorders"^^xsd:string) AnnotationAssertion( "Prion-Induced Disorders"^^xsd:string) AnnotationAssertion( "prion disease pathway"^^xsd:string) AnnotationAssertion( "prion diseases"^^xsd:string) AnnotationAssertion( "spongiform encephalopathy"^^xsd:string) AnnotationAssertion( "Genetic Prion Diseases"^^xsd:string) AnnotationAssertion( "INHERITED PRION DISEASE"^^xsd:string) AnnotationAssertion( "Inherited Human Transmissible Spongiform Encephalopathies"^^xsd:string) AnnotationAssertion( "Transmissible Dementia"^^xsd:string) AnnotationAssertion( "Transmissible Dementias"^^xsd:string) AnnotationAssertion( "Transmissible Spongiform Encephalopathies"^^xsd:string) AnnotationAssertion( "genetic prion disease"^^xsd:string) AnnotationAssertion( "transmissible spongiform encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Prion Disease, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:649"^^xsd:string) AnnotationAssertion(rdfs:label "prion disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast capillary hemangioma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/breasthemangioma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26687640"^^xsd:string) "A breast hemangioma that is characterized by capillary-sized vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5210"^^xsd:string) AnnotationAssertion( "capillary angioma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6491"^^xsd:string) AnnotationAssertion(rdfs:label "breast capillary hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast epithelioid hemangioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/"^^xsd:string) "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5211"^^xsd:string) AnnotationAssertion( "breast histiocytoid hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6492"^^xsd:string) AnnotationAssertion(rdfs:label "breast epithelioid hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood myxoid chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9231/3"^^xsd:string) AnnotationAssertion( "MONDO:0003898"^^xsd:string) AnnotationAssertion( "NCI:C27377"^^xsd:string) AnnotationAssertion( "pediatric myxoid chondrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6494"^^xsd:string) AnnotationAssertion(rdfs:label "childhood myxoid chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (seborrheic keratosis) AnnotationAssertion(Annotation( "MESH:D017492"^^xsd:string) "Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade."^^xsd:string) AnnotationAssertion( "MIM:182000"^^xsd:string) AnnotationAssertion( "EFO:0005584"^^xsd:string) AnnotationAssertion( "GARD:3108"^^xsd:string) AnnotationAssertion( "ICD10CM:L82.1"^^xsd:string) AnnotationAssertion( "ICD9CM:702.1"^^xsd:string) AnnotationAssertion( "MESH:D017492"^^xsd:string) AnnotationAssertion( "NCI:C9006"^^xsd:string) AnnotationAssertion( "Keratosis Seborrheica"^^xsd:string) AnnotationAssertion( "Seborrheic Keratoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6498"^^xsd:string) AnnotationAssertion(rdfs:label "seborrheic keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (connective tissue disease) AnnotationAssertion(Annotation( "http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp"^^xsd:string) "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009432"^^xsd:string) AnnotationAssertion( "EFO:1001986"^^xsd:string) AnnotationAssertion( "MESH:D003240"^^xsd:string) AnnotationAssertion( "NCI:C26729"^^xsd:string) AnnotationAssertion( "connective tissue diseases"^^xsd:string) AnnotationAssertion( "connective tissue disorder"^^xsd:string) AnnotationAssertion( "disorder of connective tissue"^^xsd:string) AnnotationAssertion( "fibroblastic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:65"^^xsd:string) AnnotationAssertion(rdfs:label "connective tissue disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebellar angioblastoma) AnnotationAssertion( "A hemangioma of the cerebellum that tends to be associated with von Hippel-Lindau disease. (Merriam-Webster)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5146"^^xsd:string) AnnotationAssertion( "RDO:9001250"^^xsd:string) AnnotationAssertion( "cerebellar hemangioblastoma"^^xsd:string) AnnotationAssertion( "hemangioblastoma of cerebellum"^^xsd:string) AnnotationAssertion( "sporadic cerebellar hemangioblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6500"^^xsd:string) AnnotationAssertion(rdfs:label "cerebellar angioblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (brain stem angioblastoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hemangioblastoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19787293"^^xsd:string) "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5147"^^xsd:string) AnnotationAssertion( "hemangioblastoma of brainstem"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6501"^^xsd:string) AnnotationAssertion(rdfs:label "brain stem angioblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vaginal spindle cell epithelioma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/"^^xsd:string) "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40280"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6505"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal spindle cell epithelioma"^^xsd:string) SubClassOf( ) # Class: (lung occult squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6686"^^xsd:string) AnnotationAssertion( "RDO:9002963"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6686"^^xsd:string) "Occult squamous cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "occult squamous cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "DOID:6510"^^xsd:string) AnnotationAssertion(rdfs:label "lung occult squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (glandular pattern ovarian yolk sac tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25395492"^^xsd:string) "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39988"^^xsd:string) AnnotationAssertion( "RDO:9005070"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6511"^^xsd:string) AnnotationAssertion(rdfs:label "glandular pattern ovarian yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (hepatoid pattern ovarian yolk sac tumor) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html"^^xsd:string) "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39989"^^xsd:string) AnnotationAssertion( "RDO:9005071"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6512"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoid pattern ovarian yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (polyvesicular vitelline pattern ovarian yolk sac tumor) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html"^^xsd:string) "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39987"^^xsd:string) AnnotationAssertion( "RDO:9005072"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6514"^^xsd:string) AnnotationAssertion(rdfs:label "polyvesicular vitelline pattern ovarian yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (clivus meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5289"^^xsd:string) AnnotationAssertion( "meningioma of the clivus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6517"^^xsd:string) AnnotationAssertion(rdfs:label "clivus meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland adenomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9785128"^^xsd:string) "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40300"^^xsd:string) AnnotationAssertion( "Bartholin gland adenomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6518"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland adenomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed cell uveal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000380"^^xsd:string) AnnotationAssertion( "NCI:C35781"^^xsd:string) AnnotationAssertion( "RDO:9003801"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6522"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cell uveal melanoma"^^xsd:string) SubClassOf( ) # Class: (ciliary body mixed cell melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35783"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6523"^^xsd:string) AnnotationAssertion(rdfs:label "ciliary body mixed cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant ciliary body melanoma) AnnotationAssertion( "NCI:C4558"^^xsd:string) AnnotationAssertion( "malignant melanoma of ciliary body"^^xsd:string) AnnotationAssertion( "melanoma of the ciliary body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6524"^^xsd:string) AnnotationAssertion(rdfs:label "malignant ciliary body melanoma"^^xsd:string) SubClassOf( ) # Class: (choroid mixed cell melanoma) AnnotationAssertion( "NCI:C35782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6525"^^xsd:string) AnnotationAssertion(rdfs:label "choroid mixed cell melanoma"^^xsd:string) SubClassOf( ) # Class: (purine-pyrimidine metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism"^^xsd:string) "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E79.8"^^xsd:string) AnnotationAssertion( "ICD9CM:277.2"^^xsd:string) AnnotationAssertion( "MESH:D011686"^^xsd:string) AnnotationAssertion( "inborn errors of purine-pyrimidine metabolism"^^xsd:string) AnnotationAssertion( "purine-pyrimidine metabolism, inborn errors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:653"^^xsd:string) AnnotationAssertion(rdfs:label "purine-pyrimidine metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (thymoma type B2) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/"^^xsd:string) "A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6888"^^xsd:string) AnnotationAssertion( "cortical thymoma"^^xsd:string) AnnotationAssertion( "polygonal cell thymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6530"^^xsd:string) AnnotationAssertion(rdfs:label "thymoma type B2"^^xsd:string) SubClassOf( ) # Class: (plasma cell neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665"^^xsd:string) "A mature B-cell neoplasm that is composed of plasma cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000200"^^xsd:string) AnnotationAssertion( "MESH:D054219"^^xsd:string) AnnotationAssertion( "NCI:C4665"^^xsd:string) AnnotationAssertion( "plasma cell dyscrasia"^^xsd:string) AnnotationAssertion( "plasma cell neoplasms"^^xsd:string) AnnotationAssertion( "plasma cell tumour"^^xsd:string) AnnotationAssertion( "plasmacytic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6536"^^xsd:string) AnnotationAssertion(rdfs:label "plasma cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (overnutrition) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Overnutrition"^^xsd:string) "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D044343"^^xsd:string) AnnotationAssertion( "hypernutrition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:654"^^xsd:string) AnnotationAssertion(rdfs:label "overnutrition"^^xsd:string) SubClassOf( ) # Class: (acne) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance"^^xsd:string) "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003894"^^xsd:string) AnnotationAssertion( "ICD10CM:L70"^^xsd:string) AnnotationAssertion( "ICD10CM:L70.2"^^xsd:string) AnnotationAssertion( "ICD9CM:706.0"^^xsd:string) AnnotationAssertion( "MESH:D000152"^^xsd:string) AnnotationAssertion( "acne varioliformis"^^xsd:string) AnnotationAssertion( "acne vulgaris"^^xsd:string) AnnotationAssertion( "frontalis acne"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6543"^^xsd:string) AnnotationAssertion(rdfs:label "acne"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5368"^^xsd:string) AnnotationAssertion( "lymphoma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6547"^^xsd:string) AnnotationAssertion(rdfs:label "heart lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angiomatous meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000086"^^xsd:string) AnnotationAssertion( "ICDO:9534/0"^^xsd:string) AnnotationAssertion( "NCI:C4332"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6548"^^xsd:string) AnnotationAssertion(rdfs:label "angiomatous meningioma"^^xsd:string) SubClassOf( ) # Class: (inherited metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/mesh/68008659"^^xsd:string) "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008661"^^xsd:string) AnnotationAssertion( "MIM:PS249270"^^xsd:string) AnnotationAssertion( "NCI:C34816"^^xsd:string) AnnotationAssertion( "Inborn Errors of Metabolism"^^xsd:string) AnnotationAssertion( "Inborn Metabolism Error"^^xsd:string) AnnotationAssertion( "Metabolism, Inborn Errors"^^xsd:string) AnnotationAssertion( "inborn metabolism disorder"^^xsd:string) AnnotationAssertion( "metabolic hereditary disorder"^^xsd:string) AnnotationAssertion( "DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Carbonic anhydrase I deficiency"^^xsd:string) AnnotationAssertion( "Carbonic anhydrase I, Guam"^^xsd:string) AnnotationAssertion( "DOID:655"^^xsd:string) AnnotationAssertion(rdfs:label "inherited metabolic disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric small cell carcinoma) AnnotationAssertion(Annotation( "NCI:C6764"^^xsd:string) "This is an aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000277"^^xsd:string) AnnotationAssertion( "NCI:C6764"^^xsd:string) AnnotationAssertion( "gastric oat cell carcinoma"^^xsd:string) AnnotationAssertion( "gastric small cell neuroendocrine carcinoma"^^xsd:string) AnnotationAssertion( "oat cell carcinoma of the stomach"^^xsd:string) AnnotationAssertion( "small cell carcinoma of stomach"^^xsd:string) AnnotationAssertion( "small cell carcinoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6552"^^xsd:string) AnnotationAssertion(rdfs:label "gastric small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (posterior foramen magnum meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5282"^^xsd:string) AnnotationAssertion( "meningioma of the posterior foramen magnum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6553"^^xsd:string) AnnotationAssertion(rdfs:label "posterior foramen magnum meningioma"^^xsd:string) SubClassOf( ) # Class: (ovarian clear cell malignant adenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6692303"^^xsd:string) "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40079"^^xsd:string) AnnotationAssertion( "RDO:9001899"^^xsd:string) AnnotationAssertion( "ovarian clear cell adenocarcinofibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6554"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell malignant adenofibroma"^^xsd:string) SubClassOf( ) # Class: (ethmoid sinus Schneiderian papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6836"^^xsd:string) AnnotationAssertion( "Schneiderian papilloma of the ethmoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6559"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus Schneiderian papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_adenoma"^^xsd:string) "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:5745"^^xsd:string) AnnotationAssertion( "adenoma of the adrenal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:656"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ethmoid sinus inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6843"^^xsd:string) AnnotationAssertion( "inverted papilloma of the ethmoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6562"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurilemmoma of the pleura) AnnotationAssertion( "NCI:C5418"^^xsd:string) AnnotationAssertion( "schwannoma of pleura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6564"^^xsd:string) AnnotationAssertion(rdfs:label "neurilemmoma of the pleura"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (posterior uveal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9089"^^xsd:string) AnnotationAssertion( "NCI:C9090"^^xsd:string) AnnotationAssertion( "RDO:9003802"^^xsd:string) AnnotationAssertion( "medium/large size posterior uveal melanoma"^^xsd:string) AnnotationAssertion( "small size posterior uveal melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6566"^^xsd:string) AnnotationAssertion(rdfs:label "posterior uveal melanoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus myxoid leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26866354"^^xsd:string) "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40175"^^xsd:string) AnnotationAssertion( "RDO:9005038"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6567"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus myxoid leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (micropapillomatosis labialis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40290"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6569"^^xsd:string) AnnotationAssertion(rdfs:label "micropapillomatosis labialis"^^xsd:string) SubClassOf( ) # Class: (adenoma) AnnotationAssertion(Annotation( "http://coloncancer.about.com/od/glossaries/g/Adenoma.htm"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Adenoma"^^xsd:string) "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000232"^^xsd:string) AnnotationAssertion( "ICDO:8140/0"^^xsd:string) AnnotationAssertion( "MESH:D000236"^^xsd:string) AnnotationAssertion( "NCI:C2855"^^xsd:string) AnnotationAssertion( "NCI:C4196"^^xsd:string) AnnotationAssertion( "Basal Cell Adenomas"^^xsd:string) AnnotationAssertion( "Monomorphic Adenoma"^^xsd:string) AnnotationAssertion( "Monomorphic Adenomas"^^xsd:string) AnnotationAssertion( "acinar cell adenoma"^^xsd:string) AnnotationAssertion( "acinic cell adenoma"^^xsd:string) AnnotationAssertion( "adenomas"^^xsd:string) AnnotationAssertion( "basal cell adenoma"^^xsd:string) AnnotationAssertion( "trabecular adenoma"^^xsd:string) AnnotationAssertion( "trabecular adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:657"^^xsd:string) AnnotationAssertion(rdfs:label "adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-invasive bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6571"^^xsd:string) AnnotationAssertion(rdfs:label "non-invasive bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood optic tract astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7534"^^xsd:string) AnnotationAssertion( "pediatric visual pathway astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6575"^^xsd:string) AnnotationAssertion(rdfs:label "childhood optic tract astrocytoma"^^xsd:string) SubClassOf( ) # Class: (childhood optic nerve glioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9380/3"^^xsd:string) AnnotationAssertion( "NCI:C7535"^^xsd:string) AnnotationAssertion( "RDO:9004495"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7535"^^xsd:string) "glioma of the pediatric visual pathway"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6576"^^xsd:string) AnnotationAssertion(rdfs:label "childhood optic nerve glioma"^^xsd:string) SubClassOf( ) # Class: (chest wall bone cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10451260"^^xsd:string) "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6724"^^xsd:string) AnnotationAssertion( "malignant bone neoplasm of chest wall"^^xsd:string) AnnotationAssertion( "malignant bone tumor of the chest wall"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6579"^^xsd:string) AnnotationAssertion(rdfs:label "chest wall bone cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast apocrine carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/apocrinecabr/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23771415"^^xsd:string) "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5141"^^xsd:string) AnnotationAssertion( "apocrine carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6581"^^xsd:string) AnnotationAssertion(rdfs:label "breast apocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast oncocytic carcinoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21111455"^^xsd:string) "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8290/3"^^xsd:string) AnnotationAssertion( "NCI:C40366"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6585"^^xsd:string) AnnotationAssertion(rdfs:label "breast oncocytic carcinoma"^^xsd:string) SubClassOf( ) # Class: (breast tubular carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/"^^xsd:string) "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9135"^^xsd:string) AnnotationAssertion( "invasive tubular breast carcinoma"^^xsd:string) AnnotationAssertion( "invasive tubular carcinoma of breast"^^xsd:string) AnnotationAssertion( "tubular carcinoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6587"^^xsd:string) AnnotationAssertion(rdfs:label "breast tubular carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylitis) AnnotationAssertion(Annotation( "MESH:D013166"^^xsd:string) "Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions."^^xsd:string) AnnotationAssertion( "ICD10CM:M46"^^xsd:string) AnnotationAssertion( "ICD9CM:720.8"^^xsd:string) AnnotationAssertion( "MESH:D013166"^^xsd:string) AnnotationAssertion( "spondylitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6590"^^xsd:string) AnnotationAssertion(rdfs:label "spondylitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder colonic type adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39835"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6594"^^xsd:string) AnnotationAssertion(rdfs:label "bladder colonic type adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (gastric tubular adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000030"^^xsd:string) AnnotationAssertion( "EFO:1000279"^^xsd:string) AnnotationAssertion( "NCI:C5473"^^xsd:string) AnnotationAssertion( "RDO:9002473"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5473"^^xsd:string) "tubular adenocarcinoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6595"^^xsd:string) AnnotationAssertion(rdfs:label "gastric tubular adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscle tissue disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/muscledisorders.html"^^xsd:string) "A muscular disease located in the muscle tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003939"^^xsd:string) AnnotationAssertion( "muscle tissue disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:66"^^xsd:string) AnnotationAssertion(rdfs:label "muscle tissue disease"^^xsd:string) SubClassOf( ) # Class: (adrenal cortex cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C74.0"^^xsd:string) AnnotationAssertion( "NCI:C2858"^^xsd:string) AnnotationAssertion( "NCI:C9327"^^xsd:string) AnnotationAssertion( "adrenal cortex cancers"^^xsd:string) AnnotationAssertion( "adrenocortical cancer"^^xsd:string) AnnotationAssertion( "adrenocortical cancers"^^xsd:string) AnnotationAssertion( "cancer of adrenal cortex"^^xsd:string) AnnotationAssertion( "cancer of the adrenal cortex"^^xsd:string) AnnotationAssertion( "malignant adrenocortical tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of adrenal cortex"^^xsd:string) AnnotationAssertion( "malignant tumour of adrenal cortex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:660"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal cortex cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kummell's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.3"^^xsd:string) AnnotationAssertion( "ICD9CM:721.7"^^xsd:string) AnnotationAssertion( "Kummell disease"^^xsd:string) AnnotationAssertion( "Kummell's spondylitis"^^xsd:string) AnnotationAssertion( "traumatic spondylopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6603"^^xsd:string) AnnotationAssertion(rdfs:label "Kummell's disease"^^xsd:string) SubClassOf( ) # Class: (classic variant of chromophobe renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27888"^^xsd:string) AnnotationAssertion( "RDO:9004806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6605"^^xsd:string) AnnotationAssertion(rdfs:label "classic variant of chromophobe renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (eosinophilic variant of chromophobe renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27889"^^xsd:string) AnnotationAssertion( "RDO:9004807"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6606"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic variant of chromophobe renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (nervous system hibernoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6997"^^xsd:string) AnnotationAssertion( "hibernoma of nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6607"^^xsd:string) AnnotationAssertion(rdfs:label "nervous system hibernoma"^^xsd:string) SubClassOf( ) # Class: (endobronchial leiomyoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5661"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6608"^^xsd:string) AnnotationAssertion(rdfs:label "endobronchial leiomyoma"^^xsd:string) SubClassOf( ) # Class: (bone epithelioid hemangioma) AnnotationAssertion( "EFO:1000132"^^xsd:string) AnnotationAssertion( "NCI:C5396"^^xsd:string) AnnotationAssertion( "NCI:C6477"^^xsd:string) AnnotationAssertion( "bone hemangioma"^^xsd:string) AnnotationAssertion( "hemangioma of bone"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5396"^^xsd:string) "osseous epithelioid hemangioma"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6477"^^xsd:string) "osseous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6610"^^xsd:string) AnnotationAssertion(rdfs:label "bone epithelioid hemangioma"^^xsd:string) SubClassOf( ) # Class: (leukocyte adhesion deficiency) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK539770/"^^xsd:string) "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001359"^^xsd:string) AnnotationAssertion( "GARD:9544"^^xsd:string) AnnotationAssertion( "MESH:D018370"^^xsd:string) AnnotationAssertion( "NCI:C27874"^^xsd:string) AnnotationAssertion( "ORDO:2968"^^xsd:string) AnnotationAssertion( "Leukocyte-Adhesion Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Leukocyte-Adhesion Deficiency Syndromes"^^xsd:string) AnnotationAssertion( "congenital leukocyte adherence deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6612"^^xsd:string) AnnotationAssertion(rdfs:label "leukocyte adhesion deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vaginal villous adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18603704"^^xsd:string) "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40259"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6613"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal villous adenoma"^^xsd:string) SubClassOf( ) # Class: (X-linked hyper IgM syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome"^^xsd:string) "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. (DO)"^^xsd:string) AnnotationAssertion( "GARD:73"^^xsd:string) AnnotationAssertion( "NCI:C158531"^^xsd:string) AnnotationAssertion( "NCI:C3990"^^xsd:string) AnnotationAssertion( "ORDO:101088"^^xsd:string) AnnotationAssertion( "hyper-IgM immunodeficiency syndrome type 1"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome 1"^^xsd:string) AnnotationAssertion( "hyper-IgM syndrome type 1"^^xsd:string) AnnotationAssertion( "hyperimmunoglobulin M syndrome"^^xsd:string) AnnotationAssertion( "immunodeficiency with hyper IgM type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6620"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked hyper IgM syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral angioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cavernous_hemangioma"^^xsd:string) "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5433"^^xsd:string) AnnotationAssertion( "hemangioma of cerebrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6621"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral angioma"^^xsd:string) SubClassOf( ) # Class: (cervical adenoma malignum) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23936961"^^xsd:string) "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000169"^^xsd:string) AnnotationAssertion( "NCI:C40206"^^xsd:string) AnnotationAssertion( "Cervical Mucinous Adenocarcinoma, Gastric Type"^^xsd:string) AnnotationAssertion( "Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant"^^xsd:string) AnnotationAssertion( "HPV-Independent Cervical Adenocarcinoma, Gastric-Type"^^xsd:string) AnnotationAssertion( "Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type"^^xsd:string) AnnotationAssertion( "cervical mucinous adenocarcinoma, minimal deviation type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6627"^^xsd:string) AnnotationAssertion(rdfs:label "cervical adenoma malignum"^^xsd:string) SubClassOf( ) # Class: (nipple carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string) "A breast carcinoma that is located_in the nipple. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C28432"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6629"^^xsd:string) AnnotationAssertion(rdfs:label "nipple carcinoma"^^xsd:string) SubClassOf( ) # Class: (scrotal angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0003951"^^xsd:string) AnnotationAssertion( "NCI:C6387"^^xsd:string) AnnotationAssertion( "angioma of scrotum"^^xsd:string) AnnotationAssertion( "hemangioma of scrotum"^^xsd:string) AnnotationAssertion( "scrotal hemangioma"^^xsd:string) AnnotationAssertion( "scrotum hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:663"^^xsd:string) AnnotationAssertion(rdfs:label "scrotal angioma"^^xsd:string) SubClassOf( ) # Class: (adult central nervous system choriocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Choriocarcinoma"^^xsd:string) "A choriocarcinoma that is located in the central nervous system of an adult. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5793"^^xsd:string) AnnotationAssertion( "choriocarcinoma of the adult central nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6634"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood CNS choriocarcinoma) AnnotationAssertion(Annotation( "http://www.ajnr.org/content/31/10/1994"^^xsd:string) "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9100/3"^^xsd:string) AnnotationAssertion( "NCI:C6206"^^xsd:string) AnnotationAssertion( "choriocarcinoma of the paediatric central nervous system"^^xsd:string) AnnotationAssertion( "choriocarcinoma of the pediatric central nervous system"^^xsd:string) AnnotationAssertion( "paediatric CNS choriocarcinoma"^^xsd:string) AnnotationAssertion( "pediatric CNS choriocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6639"^^xsd:string) AnnotationAssertion(rdfs:label "childhood CNS choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (angiokeratoma of Fordyce) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7752"^^xsd:string) AnnotationAssertion( "Fordyce angiokeratoma"^^xsd:string) AnnotationAssertion( "Fordyce's spot"^^xsd:string) AnnotationAssertion( "Fordyce-type angiokeratoma of scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:664"^^xsd:string) AnnotationAssertion(rdfs:label "angiokeratoma of Fordyce"^^xsd:string) SubClassOf( ) # Class: (breast juvenile papillomatosis) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/7074576"^^xsd:string) "A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9503"^^xsd:string) AnnotationAssertion( "juvenile papillomatosis of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6641"^^xsd:string) AnnotationAssertion(rdfs:label "breast juvenile papillomatosis"^^xsd:string) SubClassOf( ) # Class: (Baastrup's syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.2"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.20"^^xsd:string) AnnotationAssertion( "ICD9CM:721.5"^^xsd:string) AnnotationAssertion( "RDO:9003746"^^xsd:string) AnnotationAssertion( "Baastrup syndrome"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:721.5"^^xsd:string) "Kissing spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6643"^^xsd:string) AnnotationAssertion(rdfs:label "Baastrup's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult pineoblastoma) AnnotationAssertion( "NCI:C8292"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6648"^^xsd:string) AnnotationAssertion(rdfs:label "adult pineoblastoma"^^xsd:string) SubClassOf( ) # Class: (diffuse idiopathic skeletal hyperostosis) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740"^^xsd:string) "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:106400"^^xsd:string) AnnotationAssertion( "EFO:0007236"^^xsd:string) AnnotationAssertion( "GARD:6460"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.1"^^xsd:string) AnnotationAssertion( "ICD9CM:721.6"^^xsd:string) AnnotationAssertion( "MESH:D004057"^^xsd:string) AnnotationAssertion( "NCI:C84671"^^xsd:string) AnnotationAssertion( "DISH"^^xsd:string) AnnotationAssertion( "Forestier Rotes disease"^^xsd:string) AnnotationAssertion( "Forestier disease"^^xsd:string) AnnotationAssertion( "Forestier's Disease"^^xsd:string) AnnotationAssertion( "Forestiers disease"^^xsd:string) AnnotationAssertion( "ankylosing vertebral hyperostosis with tylosis"^^xsd:string) AnnotationAssertion( "disseminated idiopathic skeletal hyperostosis"^^xsd:string) AnnotationAssertion( "vertebral ankylosing hyperostoses"^^xsd:string) AnnotationAssertion( "vertebral ankylosing hyperostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6652"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse idiopathic skeletal hyperostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood central nervous system immature teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27405"^^xsd:string) AnnotationAssertion( "RDO:9004046"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6654"^^xsd:string) AnnotationAssertion(rdfs:label "childhood central nervous system immature teratoma"^^xsd:string) SubClassOf( ) # Class: (breast large cell neuroendocrine carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/"^^xsd:string) "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40356"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6657"^^xsd:string) AnnotationAssertion(rdfs:label "breast large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary large cell neuroendocrine carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5672"^^xsd:string) AnnotationAssertion( "NCI:C6875"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6658"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical large cell neuroendocrine carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30642849"^^xsd:string) "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000167"^^xsd:string) AnnotationAssertion( "NCI:C40214"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6659"^^xsd:string) AnnotationAssertion(rdfs:label "cervical large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Froelich syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adiposogenital_dystrophy"^^xsd:string) "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6463"^^xsd:string) AnnotationAssertion( "NCI:C34625"^^xsd:string) AnnotationAssertion( "Babinski-Froelich syndrome"^^xsd:string) AnnotationAssertion( "Froehlich syndrome"^^xsd:string) AnnotationAssertion( "Froehlich's syndrome"^^xsd:string) AnnotationAssertion( "Froehlichs Syndrome"^^xsd:string) AnnotationAssertion( "Froelich's syndrome"^^xsd:string) AnnotationAssertion( "adiposogenital syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6676"^^xsd:string) AnnotationAssertion(rdfs:label "Froelich syndrome"^^xsd:string) SubClassOf( ) # Class: (diffuse infiltrative lymphocytosis syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21295898"^^xsd:string) "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35699"^^xsd:string) AnnotationAssertion( "RDO:9004856"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6677"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse infiltrative lymphocytosis syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tooth and nail syndrome) AnnotationAssertion(Annotation( "http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome"^^xsd:string) "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. (DO)"^^xsd:string) AnnotationAssertion( "MIM:189500"^^xsd:string) AnnotationAssertion( "MESH:C536736"^^xsd:string) AnnotationAssertion( "NCI:C40553"^^xsd:string) AnnotationAssertion( "ECTD3"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA 3, WITKOP TYPE"^^xsd:string) AnnotationAssertion( "TNS"^^xsd:string) AnnotationAssertion( "Witkop syndrome"^^xsd:string) AnnotationAssertion( "Witkop's syndrome"^^xsd:string) AnnotationAssertion( "dysplasia of nails with hypodontia"^^xsd:string) AnnotationAssertion( "hypoplastic enamel-onycholysis-hypohidrosis syndrome"^^xsd:string) AnnotationAssertion( "nail dysplasia with hypodontia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6678"^^xsd:string) AnnotationAssertion(rdfs:label "tooth and nail syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myositis ossificans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myositis_ossificans"^^xsd:string) Annotation( "http://www.merriam-webster.com/medlineplus/myositis"^^xsd:string) "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D009221"^^xsd:string) AnnotationAssertion( "NCI:C3253"^^xsd:string) AnnotationAssertion( "myisitis ossificans"^^xsd:string) AnnotationAssertion( "ossification - muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:668"^^xsd:string) AnnotationAssertion(rdfs:label "myositis ossificans"^^xsd:string) SubClassOf( ) # Class: (Capgras syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Capgras_delusion"^^xsd:string) "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002194"^^xsd:string) AnnotationAssertion( "NCI:C34446"^^xsd:string) AnnotationAssertion( "Capgras delusion theory"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6680"^^xsd:string) AnnotationAssertion(rdfs:label "Capgras syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spondylolisthesis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spondylolisthesis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm"^^xsd:string) Annotation( "http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm"^^xsd:string) "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. (DO)"^^xsd:string) AnnotationAssertion( "MIM:184200"^^xsd:string) AnnotationAssertion( "EFO:0007493"^^xsd:string) AnnotationAssertion( "ICD10CM:M43.1"^^xsd:string) AnnotationAssertion( "ICD10CM:M43.10"^^xsd:string) AnnotationAssertion( "MESH:D013168"^^xsd:string) AnnotationAssertion( "NCI:C35033"^^xsd:string) AnnotationAssertion( "Spondylistheses"^^xsd:string) AnnotationAssertion( "Spondylisthesis"^^xsd:string) AnnotationAssertion( "Spondylolistheses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6682"^^xsd:string) AnnotationAssertion(rdfs:label "spondylolisthesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked Aarskog syndrome) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm"^^xsd:string) "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. (DO)"^^xsd:string) AnnotationAssertion( "MIM:227330"^^xsd:string) AnnotationAssertion( "MIM:305400"^^xsd:string) AnnotationAssertion( "GARD:4775"^^xsd:string) AnnotationAssertion( "NCI:C129720"^^xsd:string) AnnotationAssertion( "Aarskog-like syndrome"^^xsd:string) AnnotationAssertion( "FGD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FGD1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "Faciodigitogenital Syndrome, Recessive"^^xsd:string) AnnotationAssertion( "Greig's syndrome"^^xsd:string) AnnotationAssertion( "Kuwait Type faciodigitogenital syndrome"^^xsd:string) AnnotationAssertion( "FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER"^^xsd:string) AnnotationAssertion( "MRXS16"^^xsd:string) AnnotationAssertion( "syndromic X-linked mental retardation 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6683"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Aarskog syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Achard syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Achard_syndrome"^^xsd:string) "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. (DO)"^^xsd:string) AnnotationAssertion( "MIM:100700"^^xsd:string) AnnotationAssertion( "GARD:8176"^^xsd:string) AnnotationAssertion( "MESH:C536012"^^xsd:string) AnnotationAssertion( "NCI:C35809"^^xsd:string) AnnotationAssertion( "arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet"^^xsd:string) AnnotationAssertion( "dysostoses and increased ligament laxity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6686"^^xsd:string) AnnotationAssertion(rdfs:label "Achard syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Achenbach syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000661"^^xsd:string) AnnotationAssertion( "NCI:C35467"^^xsd:string) AnnotationAssertion( "paroxysmal hematoma of the finger"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6687"^^xsd:string) AnnotationAssertion(rdfs:label "Achenbach syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune lymphoproliferative syndrome) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome"^^xsd:string) "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601859"^^xsd:string) AnnotationAssertion( "GARD:8686"^^xsd:string) AnnotationAssertion( "ICD10CM:D89.82"^^xsd:string) AnnotationAssertion( "ICD9CM:279.41"^^xsd:string) AnnotationAssertion( "MESH:D056735"^^xsd:string) AnnotationAssertion( "NCI:C37864"^^xsd:string) AnnotationAssertion( "ORDO:3261"^^xsd:string) AnnotationAssertion( "ALPS"^^xsd:string) AnnotationAssertion( "Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Canale Smith syndromes"^^xsd:string) AnnotationAssertion( "Canale-Smith syndrome"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndromes"^^xsd:string) AnnotationAssertion( "ALPS1A"^^xsd:string) AnnotationAssertion( "ALPS1B"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome, type IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6688"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune lymphoproliferative syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aagenaes syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aagenaes_syndrome"^^xsd:string) "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. (DO)"^^xsd:string) AnnotationAssertion( "MIM:214900"^^xsd:string) AnnotationAssertion( "GARD:370"^^xsd:string) AnnotationAssertion( "MESH:C535330"^^xsd:string) AnnotationAssertion( "NCI:C35709"^^xsd:string) AnnotationAssertion( "ORDO:1414"^^xsd:string) AnnotationAssertion( "CHLS"^^xsd:string) AnnotationAssertion( "Cholestasis lymphedema syndrome"^^xsd:string) AnnotationAssertion( "LCS"^^xsd:string) AnnotationAssertion( "LCS1"^^xsd:string) AnnotationAssertion( "cholestasis-edema syndrome, Norwegian type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6691"^^xsd:string) AnnotationAssertion(rdfs:label "Aagenaes syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Barre-Lieou syndrome) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/"^^xsd:string) "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007165"^^xsd:string) AnnotationAssertion( "ICD10CM:M53.0"^^xsd:string) AnnotationAssertion( "MESH:D055010"^^xsd:string) AnnotationAssertion( "NCI:C34411"^^xsd:string) AnnotationAssertion( "cervicocranial syndrome"^^xsd:string) AnnotationAssertion( "posterior cervical sympathetic syndrome"^^xsd:string) AnnotationAssertion( "syndrome of Barre Lieou"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6692"^^xsd:string) AnnotationAssertion(rdfs:label "Barre-Lieou syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (testicular monophasic choriocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/9060597/"^^xsd:string) "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39935"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6693"^^xsd:string) AnnotationAssertion(rdfs:label "testicular monophasic choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (synchronous multifocal osteogenic sarcoma) AnnotationAssertion( "NCI:C6471"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6696"^^xsd:string) AnnotationAssertion(rdfs:label "synchronous multifocal osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (asynchronous multifocal osteogenic sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6472"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6697"^^xsd:string) AnnotationAssertion(rdfs:label "asynchronous multifocal osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (amphetamine abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amphetamine_Abuse"^^xsd:string) "A substance abuse that involves the recurring use of amphetamines despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004701"^^xsd:string) AnnotationAssertion( "ICD9CM:305.7"^^xsd:string) AnnotationAssertion( "MESH:D019969"^^xsd:string) AnnotationAssertion( "amphetamine use disorder"^^xsd:string) AnnotationAssertion( "amphetamine-related disorder"^^xsd:string) AnnotationAssertion( "amphetamine-related disorders"^^xsd:string) AnnotationAssertion( "Amphetamine Addiction"^^xsd:string) AnnotationAssertion( "Amphetamine Dependence"^^xsd:string) AnnotationAssertion( "METHAMPHETAMINE USE DISORDER"^^xsd:string) AnnotationAssertion( "methamphetamine dependence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:670"^^xsd:string) AnnotationAssertion(rdfs:label "amphetamine abuse"^^xsd:string) SubClassOf( ) # Class: (gastric fundus carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8398"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cancer of fundus of stomach"^^xsd:string) AnnotationAssertion( "carcinoma of fundus of stomach"^^xsd:string) AnnotationAssertion( "DOID:6700"^^xsd:string) AnnotationAssertion(rdfs:label "gastric fundus carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric pylorus carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6795"^^xsd:string) AnnotationAssertion( "carcinoma of pylorus of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6703"^^xsd:string) AnnotationAssertion(rdfs:label "gastric pylorus carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric body carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8399"^^xsd:string) AnnotationAssertion( "RDO:9001934"^^xsd:string) AnnotationAssertion( "cancer of body of stomach"^^xsd:string) AnnotationAssertion( "carcinoma of body of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6705"^^xsd:string) AnnotationAssertion(rdfs:label "gastric body carcinoma"^^xsd:string) SubClassOf( ) # Class: (tubular variant testicular seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40959"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6706"^^xsd:string) AnnotationAssertion(rdfs:label "tubular variant testicular seminoma"^^xsd:string) SubClassOf( ) # Class: (malignant triton tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4335"^^xsd:string) AnnotationAssertion( "MPNST with rhabdomyoblastic differentiation"^^xsd:string) AnnotationAssertion( "MPNST with rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "malignant triton tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6707"^^xsd:string) AnnotationAssertion(rdfs:label "malignant triton tumor"^^xsd:string) SubClassOf( ) # Class: (anterior spinal artery syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome"^^xsd:string) "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000810"^^xsd:string) AnnotationAssertion( "GARD:9653"^^xsd:string) AnnotationAssertion( "ICD10CM:G83.82"^^xsd:string) AnnotationAssertion( "MESH:D020759"^^xsd:string) AnnotationAssertion( "Anterior Spinal Artery Dissection"^^xsd:string) AnnotationAssertion( "Anterior spinal artery occlusion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6712"^^xsd:string) AnnotationAssertion(rdfs:label "anterior spinal artery syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebrovascular disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebrovascular_disease"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/books/NBK378/"^^xsd:string) "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003763"^^xsd:string) AnnotationAssertion( "ICD10CM:I67.9"^^xsd:string) AnnotationAssertion( "ICD9CM:437.9"^^xsd:string) AnnotationAssertion( "MESH:D002561"^^xsd:string) AnnotationAssertion( "NCI:C2938"^^xsd:string) AnnotationAssertion( "Cerebrovascular Insufficiency"^^xsd:string) AnnotationAssertion( "brain vascular disorder"^^xsd:string) AnnotationAssertion( "brain vascular disorders"^^xsd:string) AnnotationAssertion( "cerebrovascular diseases"^^xsd:string) AnnotationAssertion( "cerebrovascular disorder"^^xsd:string) AnnotationAssertion( "cerebrovascular disorders"^^xsd:string) AnnotationAssertion( "cerebrovascular insufficiencies"^^xsd:string) AnnotationAssertion( "cerebrovascular occlusion"^^xsd:string) AnnotationAssertion( "cerebrovascular occlusions"^^xsd:string) AnnotationAssertion( "intracranial vascular disease"^^xsd:string) AnnotationAssertion( "intracranial vascular diseases"^^xsd:string) AnnotationAssertion( "intracranial vascular disorder"^^xsd:string) AnnotationAssertion( "intracranial vascular disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6713"^^xsd:string) AnnotationAssertion(rdfs:label "cerebrovascular disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spleen cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/"^^xsd:string) "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007491"^^xsd:string) AnnotationAssertion( "GARD:7683"^^xsd:string) AnnotationAssertion( "ICD10CM:C26.1"^^xsd:string) AnnotationAssertion( "NCI:C3383"^^xsd:string) AnnotationAssertion( "NCI:C3539"^^xsd:string) AnnotationAssertion( "RDO:9003650"^^xsd:string) AnnotationAssertion( "cancer of spleen"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3539"^^xsd:string) "malignant Splenic tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254616004"^^xsd:string) "malignant tumour of spleen"^^xsd:string) AnnotationAssertion( "spleen cancers"^^xsd:string) AnnotationAssertion( "splenic cancer"^^xsd:string) AnnotationAssertion( "splenic cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:672"^^xsd:string) AnnotationAssertion(rdfs:label "spleen cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Littre gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urethral_gland"^^xsd:string) "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C39865"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6721"^^xsd:string) AnnotationAssertion(rdfs:label "Littre gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant type AB thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6886"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128710005"^^xsd:string) "Thymoma, mixed type, malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6723"^^xsd:string) AnnotationAssertion(rdfs:label "malignant type AB thymoma"^^xsd:string) SubClassOf( ) # Class: (spinal stenosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Spinal_stenosis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/spinal-stenosis/DS00515"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm"^^xsd:string) "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007490"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.0"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.02"^^xsd:string) AnnotationAssertion( "ICD10CM:M48.061"^^xsd:string) AnnotationAssertion( "ICD9CM:723.0"^^xsd:string) AnnotationAssertion( "ICD9CM:724.00"^^xsd:string) AnnotationAssertion( "MESH:D013130"^^xsd:string) AnnotationAssertion( "NCI:C177444"^^xsd:string) AnnotationAssertion( "NCI:C177445"^^xsd:string) AnnotationAssertion( "cervical spinal stenosis"^^xsd:string) AnnotationAssertion( "lumbar spinal stenosis"^^xsd:string) AnnotationAssertion( "spinal stenoses"^^xsd:string) AnnotationAssertion( "spinal stenosis of lumbar region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6725"^^xsd:string) AnnotationAssertion(rdfs:label "spinal stenosis"^^xsd:string) SubClassOf( ) # Class: (fibrillary astrocytoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrillary_astrocytoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45602"^^xsd:string) "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9420/3"^^xsd:string) AnnotationAssertion( "NCI:C4322"^^xsd:string) AnnotationAssertion( "fibrillary astrocytic tumors"^^xsd:string) AnnotationAssertion( "fibrillary astrocytomas"^^xsd:string) AnnotationAssertion( "fibrous astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6726"^^xsd:string) AnnotationAssertion(rdfs:label "fibrillary astrocytoma"^^xsd:string) SubClassOf( ) # Class: (colon small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6761"^^xsd:string) AnnotationAssertion( "RDO:9003834"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6761"^^xsd:string) "Colonic small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6727"^^xsd:string) AnnotationAssertion(rdfs:label "colon small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic bile duct cystadenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/19630118/"^^xsd:string) "A bile duct cystadenoma located_in an intrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C96835"^^xsd:string) AnnotationAssertion( "cystadenoma of the intrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6733"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic bile duct cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (schwannoma of jugular foramen) AnnotationAssertion( "NCI:C5323"^^xsd:string) AnnotationAssertion( "neurilemmoma of jugular foramen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6735"^^xsd:string) AnnotationAssertion(rdfs:label "schwannoma of jugular foramen"^^xsd:string) SubClassOf( ) # Class: (cleft palate) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=cleftpalate"^^xsd:string) "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. (DO)"^^xsd:string) AnnotationAssertion( "MIM:119540"^^xsd:string) AnnotationAssertion( "EFO:0003920"^^xsd:string) AnnotationAssertion( "ICD10CM:Q35"^^xsd:string) AnnotationAssertion( "ICD9CM:749.0"^^xsd:string) AnnotationAssertion( "MESH:D002972"^^xsd:string) AnnotationAssertion( "MONDO:0016064"^^xsd:string) AnnotationAssertion( "NCI:C87069"^^xsd:string) AnnotationAssertion( "CP"^^xsd:string) AnnotationAssertion( "CPI"^^xsd:string) AnnotationAssertion( "cleft palates"^^xsd:string) AnnotationAssertion( "palatoschisis"^^xsd:string) AnnotationAssertion( "uranostaphyloschisis"^^xsd:string) AnnotationAssertion( "NONSYNDROMIC CLEFT PALATE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:674"^^xsd:string) AnnotationAssertion(rdfs:label "cleft palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cervix small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000171"^^xsd:string) AnnotationAssertion( "NCI:C7982"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7982"^^xsd:string) "small cell carcinoma of the Cervix Uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "small cell carcinoma of the cervix"^^xsd:string) AnnotationAssertion( "DOID:6740"^^xsd:string) AnnotationAssertion(rdfs:label "cervix small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (bilateral breast cancer) AnnotationAssertion(Annotation( "http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html"^^xsd:string) "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8287"^^xsd:string) AnnotationAssertion( "RDO:9001805"^^xsd:string) AnnotationAssertion( "bilateral breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6741"^^xsd:string) AnnotationAssertion(rdfs:label "bilateral breast cancer"^^xsd:string) SubClassOf( ) # Class: (synchronous bilateral breast carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40370"^^xsd:string) AnnotationAssertion( "RDO:9001806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6742"^^xsd:string) AnnotationAssertion(rdfs:label "synchronous bilateral breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (internal auditory canal lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19813171"^^xsd:string) "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5452"^^xsd:string) AnnotationAssertion( "lipoma of the internal auditory canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6752"^^xsd:string) AnnotationAssertion(rdfs:label "internal auditory canal lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (amyloid tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "amyloid neoplasm"^^xsd:string) AnnotationAssertion( "amyloid tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6755"^^xsd:string) AnnotationAssertion(rdfs:label "amyloid tumor"^^xsd:string) SubClassOf( ) # Class: (chest wall lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chest_wall"^^xsd:string) "A thoracic cancer that is located_in the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4580"^^xsd:string) AnnotationAssertion( "NCI:C6712"^^xsd:string) AnnotationAssertion( "chest wall cancer"^^xsd:string) AnnotationAssertion( "lymphoma of chest wall"^^xsd:string) AnnotationAssertion( "lymphoma of the chest wall"^^xsd:string) AnnotationAssertion( "malignant neoplasm of chest wall"^^xsd:string) AnnotationAssertion( "malignant tumor of chest wall"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6758"^^xsd:string) AnnotationAssertion(rdfs:label "chest wall lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bone lymphoma) AnnotationAssertion(Annotation( "http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm"^^xsd:string) Annotation( "https://orthoinfo.aaos.org/en/diseases--conditions/primary-lymphoma-of-bone"^^xsd:string) "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C6620"^^xsd:string) AnnotationAssertion( "lymphoma of bone"^^xsd:string) AnnotationAssertion( "lymphoma of the bone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6759"^^xsd:string) AnnotationAssertion(rdfs:label "bone lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (juvenile rheumatoid arthritis) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm"^^xsd:string) Annotation( "http://www.umm.edu/ency/article/000451.htm"^^xsd:string) "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "MIM:618795"^^xsd:string) AnnotationAssertion( "EFO:0002609"^^xsd:string) AnnotationAssertion( "EFO:0009730"^^xsd:string) AnnotationAssertion( "EFO:0009731"^^xsd:string) AnnotationAssertion( "EFO:0009732"^^xsd:string) AnnotationAssertion( "EFO:0009733"^^xsd:string) AnnotationAssertion( "EFO:0009734"^^xsd:string) AnnotationAssertion( "EFO:0009746"^^xsd:string) AnnotationAssertion( "EFO:1002007"^^xsd:string) AnnotationAssertion( "EFO:1002020"^^xsd:string) AnnotationAssertion( "GARD:3067"^^xsd:string) AnnotationAssertion( "ICD10CM:M08.4"^^xsd:string) AnnotationAssertion( "ICD9CM:714.3"^^xsd:string) AnnotationAssertion( "ICD9CM:714.31"^^xsd:string) AnnotationAssertion( "ICD9CM:714.32"^^xsd:string) AnnotationAssertion( "ICD9CM:714.33"^^xsd:string) AnnotationAssertion( "MESH:D001171"^^xsd:string) AnnotationAssertion( "NCI:C26979"^^xsd:string) AnnotationAssertion( "NCI:C61279"^^xsd:string) AnnotationAssertion( "ORDO:92"^^xsd:string) AnnotationAssertion( "Juvenile Onset Still Disease"^^xsd:string) AnnotationAssertion( "Juvenile Onset Stills Disease"^^xsd:string) AnnotationAssertion( "Juvenile-Onset Still's Disease"^^xsd:string) AnnotationAssertion( "Still's disease"^^xsd:string) AnnotationAssertion( "juvenile arthritis"^^xsd:string) AnnotationAssertion( "acute juvenile rheumatoid arthritis"^^xsd:string) AnnotationAssertion( "enthesitis-related juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "extended oligoarticular juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "juvenile chronic arthritis"^^xsd:string) AnnotationAssertion( "juvenile chronic polyarthritis"^^xsd:string) AnnotationAssertion( "juvenile enthesitis-related arthritis"^^xsd:string) AnnotationAssertion( "juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "juvenile oligoarthritis"^^xsd:string) AnnotationAssertion( "juvenile polyarthritis, rheumatoid factor negative"^^xsd:string) AnnotationAssertion( "juvenile polyarthritis, rheumatoid factor positive"^^xsd:string) AnnotationAssertion( "juvenile psoriatic arthritis"^^xsd:string) AnnotationAssertion( "juvenile systemic arthritis"^^xsd:string) AnnotationAssertion( "monarticular juvenile rheumatoid arthritis"^^xsd:string) AnnotationAssertion( "pauciarticular juvenile arthritis"^^xsd:string) AnnotationAssertion( "pauciarticular onset juvenile chronic arthritis"^^xsd:string) AnnotationAssertion( "polyarticular juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative"^^xsd:string) AnnotationAssertion( "polyarticular juvenile idiopathic arthritis, rheumatoid factor positive"^^xsd:string) AnnotationAssertion( "psoriasis-related juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "unspecified juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:676"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile rheumatoid arthritis"^^xsd:string) SubClassOf( ) # Class: (lung lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "lymphoma of lung"^^xsd:string) AnnotationAssertion( "pulmonary lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6760"^^xsd:string) AnnotationAssertion(rdfs:label "lung lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sternum lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6716"^^xsd:string) AnnotationAssertion( "lymphoma of sternum"^^xsd:string) AnnotationAssertion( "lymphoma of the sternum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6762"^^xsd:string) AnnotationAssertion(rdfs:label "sternum lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyembryoma of the ovary) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polyembryoma"^^xsd:string) "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39990"^^xsd:string) AnnotationAssertion( "RDO:9005073"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6774"^^xsd:string) AnnotationAssertion(rdfs:label "polyembryoma of the ovary"^^xsd:string) SubClassOf( ) # Class: (breast myoepithelial carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/"^^xsd:string) "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40395"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6776"^^xsd:string) AnnotationAssertion(rdfs:label "breast myoepithelial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (villoglandular endometrial endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8179072"^^xsd:string) "An endometrial adenocarcinoma that is characterized by papillary differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27846"^^xsd:string) AnnotationAssertion( "RDO:9002082"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6777"^^xsd:string) AnnotationAssertion(rdfs:label "villoglandular endometrial endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (progressive supranuclear palsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/psp/psp.htm"^^xsd:string) "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601104"^^xsd:string) AnnotationAssertion( "EFO:0002512"^^xsd:string) AnnotationAssertion( "GARD:7471"^^xsd:string) AnnotationAssertion( "ICD10CM:G23.1"^^xsd:string) AnnotationAssertion( "MESH:D013494"^^xsd:string) AnnotationAssertion( "MONDO:0019037"^^xsd:string) AnnotationAssertion( "NCI:C85028"^^xsd:string) AnnotationAssertion( "ORDO:683"^^xsd:string) AnnotationAssertion( "PSNP1"^^xsd:string) AnnotationAssertion( "PSP"^^xsd:string) AnnotationAssertion( "Progressive Supranuclear Ophthalmoplegia"^^xsd:string) AnnotationAssertion( "Richardson Syndrome"^^xsd:string) AnnotationAssertion( "Richardson's Syndrome"^^xsd:string) AnnotationAssertion( "Steele Richardson Olszewski Disease"^^xsd:string) AnnotationAssertion( "Steele Richardson Olszewski Syndrome"^^xsd:string) AnnotationAssertion( "progressive supranuclear palsies"^^xsd:string) AnnotationAssertion( "progressive supranuclear palsy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:678"^^xsd:string) AnnotationAssertion(rdfs:label "progressive supranuclear palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (desmoplastic small round cell tumor) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor"^^xsd:string) Annotation( "https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors"^^xsd:string) "A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000895"^^xsd:string) AnnotationAssertion( "GARD:6265"^^xsd:string) AnnotationAssertion( "ICDO:8806/3"^^xsd:string) AnnotationAssertion( "MESH:D058405"^^xsd:string) AnnotationAssertion( "NCI:C8300"^^xsd:string) AnnotationAssertion( "desmoplastic small cell tumor"^^xsd:string) AnnotationAssertion( "desmoplastic small round-cell neoplasm"^^xsd:string) AnnotationAssertion( "desmoplastic small-cell tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6785"^^xsd:string) AnnotationAssertion(rdfs:label "desmoplastic small round cell tumor"^^xsd:string) SubClassOf( ) # Class: (childhood botryoid rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8088765"^^xsd:string) "A botryoid rhabdomyosarcoma that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "ICD-O:M8910/3"^^xsd:string) AnnotationAssertion( "NCI:C35574"^^xsd:string) AnnotationAssertion( "childhood sarcoma botryoides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6786"^^xsd:string) AnnotationAssertion(rdfs:label "childhood botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (childhood vagina botryoid rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27870705"^^xsd:string) "A vagina botryoid rhabdomyosarcoma that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35556"^^xsd:string) AnnotationAssertion( "vaginal childhood sarcoma Botryoides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6787"^^xsd:string) AnnotationAssertion(rdfs:label "childhood vagina botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (vagina botryoid rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15887839"^^xsd:string) "A botryoid rhabdomyosarcoma that is located_in the vagina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40268"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6788"^^xsd:string) AnnotationAssertion(rdfs:label "vagina botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar childhood botryoid-type embryonal rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36098"^^xsd:string) AnnotationAssertion( "childhood sarcoma Botryoides of the Vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6789"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar childhood botryoid-type embryonal rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (basal ganglia disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Basal_ganglia_disease"^^xsd:string) "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009533"^^xsd:string) AnnotationAssertion( "MESH:D001480"^^xsd:string) AnnotationAssertion( "Basal Ganglia Disorder"^^xsd:string) AnnotationAssertion( "Extrapyramidal Disorder"^^xsd:string) AnnotationAssertion( "Extrapyramidal Disorders"^^xsd:string) AnnotationAssertion( "Lenticulostriate Disorder"^^xsd:string) AnnotationAssertion( "basal ganglia diseases"^^xsd:string) AnnotationAssertion( "basal ganglia disorders"^^xsd:string) AnnotationAssertion( "lenticulostriate disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:679"^^xsd:string) AnnotationAssertion(rdfs:label "basal ganglia disease"^^xsd:string) SubClassOf( ) # Class: (tauopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tauopathy"^^xsd:string) "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005815"^^xsd:string) AnnotationAssertion( "MESH:D024801"^^xsd:string) AnnotationAssertion( "tauopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:680"^^xsd:string) AnnotationAssertion(rdfs:label "tauopathy"^^xsd:string) SubClassOf( ) # Class: (colon Kaposi sarcoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp"^^xsd:string) "A sarcoma of colon that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5516"^^xsd:string) AnnotationAssertion( "RDO:9002030"^^xsd:string) AnnotationAssertion( "Colonic Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6804"^^xsd:string) AnnotationAssertion(rdfs:label "colon Kaposi sarcoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (progressive bulbar palsy) AnnotationAssertion(Annotation( "MESH:D010244"^^xsd:string) "A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)"^^xsd:string) AnnotationAssertion( "EFO:0003783"^^xsd:string) AnnotationAssertion( "GARD:10928"^^xsd:string) AnnotationAssertion( "ICD10CM:G12.22"^^xsd:string) AnnotationAssertion( "ICD9CM:335.22"^^xsd:string) AnnotationAssertion( "MESH:D010244"^^xsd:string) AnnotationAssertion( "NCI:C85026"^^xsd:string) AnnotationAssertion( "Bulbar Palsy"^^xsd:string) AnnotationAssertion( "Bulbar Paralyses"^^xsd:string) AnnotationAssertion( "Bulbar Paralysis"^^xsd:string) AnnotationAssertion( "Progressive Bulbar Palsies"^^xsd:string) AnnotationAssertion( "bulbar palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:681"^^xsd:string) AnnotationAssertion(rdfs:label "progressive bulbar palsy"^^xsd:string) SubClassOf( ) # Class: (juvenile pilocytic astrocytoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081"^^xsd:string) "A pilocytic astrocytoma that occurs during adolescence. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27081"^^xsd:string) AnnotationAssertion( "juvenile pilocytic astrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6811"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile pilocytic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (childhood pilocytic astrocytoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048"^^xsd:string) "A pilocytic astrocytoma that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9421/1"^^xsd:string) AnnotationAssertion( "NCI:C4048"^^xsd:string) AnnotationAssertion( "pediatric pilocytic astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6812"^^xsd:string) AnnotationAssertion(rdfs:label "childhood pilocytic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (compartment syndrome) AnnotationAssertion(Annotation( "MESH:D003161"^^xsd:string) "Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE."^^xsd:string) AnnotationAssertion( "GARD:6141"^^xsd:string) AnnotationAssertion( "ICD10CM:T79.A0"^^xsd:string) AnnotationAssertion( "ICD9CM:958.90"^^xsd:string) AnnotationAssertion( "MESH:D003161"^^xsd:string) AnnotationAssertion( "NCI:C118422"^^xsd:string) AnnotationAssertion( "compartment syndromes"^^xsd:string) AnnotationAssertion( "compartmental syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:682"^^xsd:string) AnnotationAssertion(rdfs:label "compartment syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatoblastoma) AnnotationAssertion( "EFO:1000446"^^xsd:string) AnnotationAssertion( "GARD:4210"^^xsd:string) AnnotationAssertion( "ICDO:8971/3"^^xsd:string) AnnotationAssertion( "MESH:C537162"^^xsd:string) AnnotationAssertion( "NCI:C4265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6823"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatoblastoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic solid pseudopapillary carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19268906"^^xsd:string) "A pancreatic carcinoma that is characterized by its papillary architecture. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5728"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6827"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic solid pseudopapillary carcinoma"^^xsd:string) SubClassOf( ) # Class: (motor neuritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3500"^^xsd:string) AnnotationAssertion( "motor neuritides"^^xsd:string) AnnotationAssertion( "peripheral motor neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:683"^^xsd:string) AnnotationAssertion(rdfs:label "motor neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rete ovarii adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9416702"^^xsd:string) "A rete ovarii benign neoplasm that derives_from glandular epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40018"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6837"^^xsd:string) AnnotationAssertion(rdfs:label "rete ovarii adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rete ovarii cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21139896"^^xsd:string) "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40020"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6838"^^xsd:string) AnnotationAssertion(rdfs:label "rete ovarii cystadenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast intraductal proliferative lesion) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/ijso/2012/501904/"^^xsd:string) "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27942"^^xsd:string) AnnotationAssertion( "intraductal proliferative lesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6839"^^xsd:string) AnnotationAssertion(rdfs:label "breast intraductal proliferative lesion"^^xsd:string) SubClassOf( ) # Class: (hepatocellular carcinoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Hepatocellular_carcinoma"^^xsd:string) Annotation( "http://www.omim.org/entry/114550"^^xsd:string) "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "MIM:114550"^^xsd:string) AnnotationAssertion( "EFO:0000182"^^xsd:string) AnnotationAssertion( "EFO:0000189"^^xsd:string) AnnotationAssertion( "EFO:0008503"^^xsd:string) AnnotationAssertion( "EFO:0008504"^^xsd:string) AnnotationAssertion( "EFO:0008505"^^xsd:string) AnnotationAssertion( "ICD-O:M8170/3"^^xsd:string) AnnotationAssertion( "ICDO:8170/3"^^xsd:string) AnnotationAssertion( "MESH:D006528"^^xsd:string) AnnotationAssertion( "NCI:C129298"^^xsd:string) AnnotationAssertion( "NCI:C24029"^^xsd:string) AnnotationAssertion( "NCI:C3099"^^xsd:string) AnnotationAssertion( "NCI:C38756"^^xsd:string) AnnotationAssertion( "NCI:C60416"^^xsd:string) AnnotationAssertion( "ORDO:88673"^^xsd:string) AnnotationAssertion( "Childhood Hepatocellular Carcinoma"^^xsd:string) AnnotationAssertion( "HCC"^^xsd:string) AnnotationAssertion( "Hepatocellular Cancer"^^xsd:string) AnnotationAssertion( "Hepatocellular Carcinoma, Childhood Type, Somatic"^^xsd:string) AnnotationAssertion( "LCC"^^xsd:string) AnnotationAssertion( "adult liver cancer"^^xsd:string) AnnotationAssertion( "adult liver cancers"^^xsd:string) AnnotationAssertion( "hepatocellular cancers"^^xsd:string) AnnotationAssertion( "hepatocellular carcinomas"^^xsd:string) AnnotationAssertion( "hepatoma"^^xsd:string) AnnotationAssertion( "hepatomas"^^xsd:string) AnnotationAssertion( "liver cell carcinoma"^^xsd:string) AnnotationAssertion( "liver cell carcinomas"^^xsd:string) AnnotationAssertion( "HEPATOBLASTOMA"^^xsd:string) AnnotationAssertion( "HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION"^^xsd:string) AnnotationAssertion( "hepatitis B virus induced hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "hepatitis C virus induced hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "hepatitis virus-related hepatocellular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:684"^^xsd:string) AnnotationAssertion(rdfs:label "hepatocellular carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (flat ductal epithelial atypia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/"^^xsd:string) "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36086"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6841"^^xsd:string) AnnotationAssertion(rdfs:label "flat ductal epithelial atypia"^^xsd:string) SubClassOf( ) # Class: (kidney pelvis sarcomatoid transitional cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6186"^^xsd:string) AnnotationAssertion( "sarcomatoid transitional cell carcinoma of renal pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6844"^^xsd:string) AnnotationAssertion(rdfs:label "kidney pelvis sarcomatoid transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (infiltrating ureter transitional cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39879"^^xsd:string) AnnotationAssertion( "RDO:9002113"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6845"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating ureter transitional cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (familial melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000881"^^xsd:string) AnnotationAssertion( "MIM:608035"^^xsd:string) AnnotationAssertion( "MIM:609048"^^xsd:string) AnnotationAssertion( "MIM:612263"^^xsd:string) AnnotationAssertion( "MIM:613099"^^xsd:string) AnnotationAssertion( "MIM:613972"^^xsd:string) AnnotationAssertion( "MIM:614456"^^xsd:string) AnnotationAssertion( "MIM:615134"^^xsd:string) AnnotationAssertion( "MIM:615848"^^xsd:string) AnnotationAssertion( "TYR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:155600"^^xsd:string) AnnotationAssertion( "MIM:155601"^^xsd:string) AnnotationAssertion( "MIM:PS155600"^^xsd:string) AnnotationAssertion( "NCI:C8498"^^xsd:string) AnnotationAssertion( "CMM"^^xsd:string) AnnotationAssertion( "DNS"^^xsd:string) AnnotationAssertion( "MLM"^^xsd:string) AnnotationAssertion( "hereditary cutaneous melanoma"^^xsd:string) AnnotationAssertion( "hereditary dysplastic nevus syndrome"^^xsd:string) AnnotationAssertion( "CMM1"^^xsd:string) AnnotationAssertion( "CMM10"^^xsd:string) AnnotationAssertion( "CMM2"^^xsd:string) AnnotationAssertion( "CMM3"^^xsd:string) AnnotationAssertion( "CMM4"^^xsd:string) AnnotationAssertion( "CMM5"^^xsd:string) AnnotationAssertion( "CMM6"^^xsd:string) AnnotationAssertion( "CMM7"^^xsd:string) AnnotationAssertion( "CMM8"^^xsd:string) AnnotationAssertion( "CMM9"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma 10"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma 5"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma 6"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma 9"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma, dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 10"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 5"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 6"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 7"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 8"^^xsd:string) AnnotationAssertion( "Cutaneous Malignant Melanoma, Susceptibility To, 9"^^xsd:string) AnnotationAssertion( "melanoma and renal cell carcinoma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:6846"^^xsd:string) AnnotationAssertion(rdfs:label "familial melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult botryoid rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17955586"^^xsd:string) "A botryoid rhabdomyosarcoma that is present in an adult. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6847"^^xsd:string) AnnotationAssertion(rdfs:label "adult botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (adult vagina botryoid rhabdomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2190875"^^xsd:string) "A vagina botryoid rhabdomyosarcoma that presents in adulthood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6848"^^xsd:string) AnnotationAssertion(rdfs:label "adult vagina botryoid rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (ethmoid sinus ectopic meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5309"^^xsd:string) AnnotationAssertion( "primary ectopic meningioma of ethmoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6854"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinus ectopic meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pineal region teratoma) AnnotationAssertion( "MIM:273120"^^xsd:string) AnnotationAssertion( "MESH:C537401"^^xsd:string) AnnotationAssertion( "NCI:C6753"^^xsd:string) AnnotationAssertion( "pineal teratoma"^^xsd:string) AnnotationAssertion( "teratoma of pineal area"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6856"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pineal region mature teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28236067"^^xsd:string) "A mature teratoma that is located_in the pineal region. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6754"^^xsd:string) AnnotationAssertion( "mature teratoma of the pineal area"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6857"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region mature teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pineal region immature teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6755"^^xsd:string) AnnotationAssertion( "atypical pineal teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6858"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region immature teratoma"^^xsd:string) SubClassOf( ) # Class: (liver carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Liver_cancer"^^xsd:string) "A liver cancer that has_material_basis_in epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "liver and intrahepatic bile duct carcinoma"^^xsd:string) AnnotationAssertion( "EFO:0000188"^^xsd:string) AnnotationAssertion( "EFO:1000149"^^xsd:string) AnnotationAssertion( "NCI:C7927"^^xsd:string) AnnotationAssertion( "Calcifying Nested Epithelial Stromal Tumor of the Liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:686"^^xsd:string) AnnotationAssertion(rdfs:label "liver carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oxyphilic endometrial endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type"^^xsd:string) "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27849"^^xsd:string) AnnotationAssertion( "RDO:9002083"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6865"^^xsd:string) AnnotationAssertion(rdfs:label "oxyphilic endometrial endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (mediastinal gray zone lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37870"^^xsd:string) AnnotationAssertion( "RDO:9004797"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6867"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal gray zone lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinal malignant lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6633"^^xsd:string) AnnotationAssertion( "RDO:9004798"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6633"^^xsd:string) "Lymphoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6868"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal malignant lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parasagittal meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4960"^^xsd:string) AnnotationAssertion( "RDO:9004710"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6869"^^xsd:string) AnnotationAssertion(rdfs:label "parasagittal meningioma"^^xsd:string) SubClassOf( ) # Class: (hepatoblastoma) AnnotationAssertion(Annotation( "MESH:D018197"^^xsd:string) "A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000292"^^xsd:string) AnnotationAssertion( "GARD:2657"^^xsd:string) AnnotationAssertion( "ICD10CM:C22.2"^^xsd:string) AnnotationAssertion( "ICDO:8970/3"^^xsd:string) AnnotationAssertion( "MESH:D018197"^^xsd:string) AnnotationAssertion( "NCI:C3728"^^xsd:string) AnnotationAssertion( "HBL"^^xsd:string) AnnotationAssertion( "hepatoblastomas"^^xsd:string) AnnotationAssertion( "embryonal hepatoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:687"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord neuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5155"^^xsd:string) AnnotationAssertion( "neuroblastoma of the spinal cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6871"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord primitive neuroectodermal neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000545"^^xsd:string) AnnotationAssertion( "NCI:C5406"^^xsd:string) AnnotationAssertion( "spinal cord PNET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6872"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord primitive neuroectodermal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin tag) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Skin_tag"^^xsd:string) "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3337"^^xsd:string) AnnotationAssertion( "NCI:C3374"^^xsd:string) AnnotationAssertion( "cutaneous tag"^^xsd:string) AnnotationAssertion( "fibroepithelial polyp"^^xsd:string) AnnotationAssertion( "fibroepithelial polyp of skin"^^xsd:string) AnnotationAssertion( "soft fibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6873"^^xsd:string) AnnotationAssertion(rdfs:label "skin tag"^^xsd:string) SubClassOf( ) # Class: (embryonal cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=44250"^^xsd:string) "A germ cell cancer that is associated with an embryo. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3264"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:688"^^xsd:string) AnnotationAssertion(rdfs:label "embryonal cancer"^^xsd:string) SubClassOf( ) # Class: (small bowel fibrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string) "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5336"^^xsd:string) AnnotationAssertion( "RDO:9004195"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5336"^^xsd:string) "Fibrosarcoma, small Intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6880"^^xsd:string) AnnotationAssertion(rdfs:label "small bowel fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000610"^^xsd:string) AnnotationAssertion( "NCI:C6176"^^xsd:string) AnnotationAssertion( "RDO:9003836"^^xsd:string) AnnotationAssertion( "ureteral small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6886"^^xsd:string) AnnotationAssertion(rdfs:label "ureter small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter transitional cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001973"^^xsd:string) AnnotationAssertion( "NCI:C4830"^^xsd:string) AnnotationAssertion( "RDO:9002112"^^xsd:string) AnnotationAssertion( "transitional cell carcinoma of ureter"^^xsd:string) AnnotationAssertion( "ureteral urothelial cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6888"^^xsd:string) AnnotationAssertion(rdfs:label "ureter transitional cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ovarian seromucinous carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24643255"^^xsd:string) "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)"^^xsd:string) AnnotationAssertion( "DOID:6899"^^xsd:string) AnnotationAssertion( "EFO:1000358"^^xsd:string) AnnotationAssertion( "NCI:C40090"^^xsd:string) AnnotationAssertion( "malignant ovarian mixed epithelial neoplasm"^^xsd:string) AnnotationAssertion( "mixed epithelial carcinoma of ovary"^^xsd:string) AnnotationAssertion( "ovary mixed epithelial carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6898"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian seromucinous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (familiar ovarian carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36102"^^xsd:string) AnnotationAssertion( "RDO:9001900"^^xsd:string) AnnotationAssertion( "familial ovarian carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6901"^^xsd:string) AnnotationAssertion(rdfs:label "familiar ovarian carcinoma"^^xsd:string) SubClassOf( ) # Class: (eye lymphoma) AnnotationAssertion(Annotation( "http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp"^^xsd:string) "A lymphoma by site that is manifested in immune system cells called lymphocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35690"^^xsd:string) AnnotationAssertion( "malignant lymphoma of eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6903"^^xsd:string) AnnotationAssertion(rdfs:label "eye lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomangiomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28656356"^^xsd:string) "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. (DO)"^^xsd:string) AnnotationAssertion( "ICDO:8711/1"^^xsd:string) AnnotationAssertion( "NCI:C27496"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6906"^^xsd:string) AnnotationAssertion(rdfs:label "glomangiomatosis"^^xsd:string) SubClassOf( ) # Class: (predominantly cortical thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000584"^^xsd:string) AnnotationAssertion( "NCI:C6887"^^xsd:string) AnnotationAssertion( "Lymphocyte-Predominant Thymoma"^^xsd:string) AnnotationAssertion( "Thymoma Type B1"^^xsd:string) AnnotationAssertion( "Thymoma, organoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6917"^^xsd:string) AnnotationAssertion(rdfs:label "predominantly cortical thymoma"^^xsd:string) SubClassOf( ) # Class: (peroneal nerve paralysis) AnnotationAssertion(Annotation( "MESH:D020427"^^xsd:string) "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"^^xsd:string) AnnotationAssertion( "EFO:1001102"^^xsd:string) AnnotationAssertion( "MESH:D020427"^^xsd:string) AnnotationAssertion( "NCI:C27061"^^xsd:string) AnnotationAssertion( "Common Peroneal Neuropathy"^^xsd:string) AnnotationAssertion( "Deep Peroneal Neuropathies"^^xsd:string) AnnotationAssertion( "Deep Peroneal Neuropathy"^^xsd:string) AnnotationAssertion( "External Popliteal Neuropathies"^^xsd:string) AnnotationAssertion( "External Popliteal Neuropathy"^^xsd:string) AnnotationAssertion( "Fibular Nerve Disease"^^xsd:string) AnnotationAssertion( "Fibular Nerve Diseases"^^xsd:string) AnnotationAssertion( "Fibular Neuropathies"^^xsd:string) AnnotationAssertion( "Fibular Neuropathy"^^xsd:string) AnnotationAssertion( "Lateral Popliteal Neuropathies"^^xsd:string) AnnotationAssertion( "Lateral Popliteal Neuropathy"^^xsd:string) AnnotationAssertion( "Peroneal Nerve Disease"^^xsd:string) AnnotationAssertion( "Peroneal Nerve Diseases"^^xsd:string) AnnotationAssertion( "Peroneal Nerve Paralyses"^^xsd:string) AnnotationAssertion( "Peroneal Neuropathies"^^xsd:string) AnnotationAssertion( "Peroneal Neuropathy"^^xsd:string) AnnotationAssertion( "Peroneal nerve palsy"^^xsd:string) AnnotationAssertion( "Superficial Peroneal Neuropathies"^^xsd:string) AnnotationAssertion( "common peroneal neuropathies"^^xsd:string) AnnotationAssertion( "superficial peroneal neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6925"^^xsd:string) AnnotationAssertion(rdfs:label "peroneal nerve paralysis"^^xsd:string) SubClassOf( ) # Class: (retinal edema) AnnotationAssertion( "retinal edemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6929"^^xsd:string) AnnotationAssertion(rdfs:label "retinal edema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dental enamel hypoplasia) AnnotationAssertion(Annotation( "MESH:D003744"^^xsd:string) "An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors."^^xsd:string) AnnotationAssertion( "EFO:0005321"^^xsd:string) AnnotationAssertion( "EFO:1001304"^^xsd:string) AnnotationAssertion( "MESH:D003744"^^xsd:string) AnnotationAssertion( "NCI:C34529"^^xsd:string) AnnotationAssertion( "Enamel Agenesis"^^xsd:string) AnnotationAssertion( "Enamel Hypoplasia"^^xsd:string) AnnotationAssertion( "Enamel Hypoplasias"^^xsd:string) AnnotationAssertion( "Hypoplastic Enamel"^^xsd:string) AnnotationAssertion( "enamel ageneses"^^xsd:string) AnnotationAssertion( "molar incisor hypomineralization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:693"^^xsd:string) AnnotationAssertion(rdfs:label "dental enamel hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary extrahepatic bile duct adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6931"^^xsd:string) AnnotationAssertion(rdfs:label "papillary extrahepatic bile duct adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urinary bladder inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39859"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6932"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder transitional cell papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3842"^^xsd:string) AnnotationAssertion( "NCI:C39858"^^xsd:string) AnnotationAssertion( "bladder papilloma"^^xsd:string) AnnotationAssertion( "transitional cell papilloma of bladder"^^xsd:string) AnnotationAssertion( "urinary bladder urothelial papilloma"^^xsd:string) AnnotationAssertion( "urothelial papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6933"^^xsd:string) AnnotationAssertion(rdfs:label "bladder transitional cell papilloma"^^xsd:string) SubClassOf( ) # Class: (urethra inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6173"^^xsd:string) AnnotationAssertion( "inverted papilloma of the urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6934"^^xsd:string) AnnotationAssertion(rdfs:label "urethra inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6174"^^xsd:string) AnnotationAssertion( "ureteral inverted papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6935"^^xsd:string) AnnotationAssertion(rdfs:label "ureter inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ureter urothelial papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6160"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6936"^^xsd:string) AnnotationAssertion(rdfs:label "ureter urothelial papilloma"^^xsd:string) SubClassOf( ) # Class: (childhood intraocular retinoblastoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29737052"^^xsd:string) "An intraocular retinoblastoma that effects children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9047"^^xsd:string) AnnotationAssertion( "pediatric intraocular retinoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6938"^^xsd:string) AnnotationAssertion(rdfs:label "childhood intraocular retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (childhood brain meningioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meningioma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15886506"^^xsd:string) "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6253"^^xsd:string) AnnotationAssertion( "RDO:9003546"^^xsd:string) AnnotationAssertion( "pediatric meningioma of brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6939"^^xsd:string) AnnotationAssertion(rdfs:label "childhood brain meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar inverted follicular keratosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11109167"^^xsd:string) "An inverted follicular keratosis that is located_in the vulva. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000778"^^xsd:string) AnnotationAssertion( "NCI:C40291"^^xsd:string) AnnotationAssertion( "RDO:9003564"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6943"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar inverted follicular keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar seborrheic keratosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000779"^^xsd:string) AnnotationAssertion( "NCI:C6375"^^xsd:string) AnnotationAssertion( "seborrheic keratosis of vulva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6944"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar seborrheic keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inverted follicular keratosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000717"^^xsd:string) AnnotationAssertion( "NCI:C9007"^^xsd:string) AnnotationAssertion( "inverted folicular keratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6945"^^xsd:string) AnnotationAssertion(rdfs:label "inverted follicular keratosis"^^xsd:string) SubClassOf( ) # Class: (sphenoidal sinus benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6792"^^xsd:string) AnnotationAssertion( "neoplasm of sphenoidal sinus"^^xsd:string) AnnotationAssertion( "tumor of sphenoidal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6947"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoidal sinus benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (malignant gastric teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2067992"^^xsd:string) "A malignant teratoma that has_material_basis_in gastric tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5256"^^xsd:string) AnnotationAssertion( "RDO:9001925"^^xsd:string) AnnotationAssertion( "malignant teratoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6948"^^xsd:string) AnnotationAssertion(rdfs:label "malignant gastric teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (combat disorder) AnnotationAssertion(Annotation( "http://neurolex.org/wiki/Category:Combat_Disorder"^^xsd:string) "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003130"^^xsd:string) AnnotationAssertion( "Combat Neurosis"^^xsd:string) AnnotationAssertion( "Combat Stress Disorder"^^xsd:string) AnnotationAssertion( "Combat Stress Disorders"^^xsd:string) AnnotationAssertion( "Shell Shock"^^xsd:string) AnnotationAssertion( "Shell Shocks"^^xsd:string) AnnotationAssertion( "War Neuroses"^^xsd:string) AnnotationAssertion( "combat disorders"^^xsd:string) AnnotationAssertion( "combat neuroses"^^xsd:string) AnnotationAssertion( "war neurosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6950"^^xsd:string) AnnotationAssertion(rdfs:label "combat disorder"^^xsd:string) SubClassOf( ) # Class: (telangiectatic osteogenic sarcoma) AnnotationAssertion( "NCI:C3902"^^xsd:string) AnnotationAssertion( "telangiectatic osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6951"^^xsd:string) AnnotationAssertion(rdfs:label "telangiectatic osteogenic sarcoma"^^xsd:string) SubClassOf( ) # Class: (aleukemic monocytic leukemia cutis) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630"^^xsd:string) "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5630"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6958"^^xsd:string) AnnotationAssertion(rdfs:label "aleukemic monocytic leukemia cutis"^^xsd:string) SubClassOf( ) # Class: (rectal cloacogenic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5555"^^xsd:string) AnnotationAssertion( "transitional zone carcinoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6959"^^xsd:string) AnnotationAssertion(rdfs:label "rectal cloacogenic carcinoma"^^xsd:string) SubClassOf( ) # Class: (Bartholin's gland squamous cell carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22369423"^^xsd:string) "A Bartholin's gland carcinoma that derives_from squamous epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000104"^^xsd:string) AnnotationAssertion( "NCI:C40293"^^xsd:string) AnnotationAssertion( "Bartholin gland squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6961"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute canaliculitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16845316"^^xsd:string) "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.33"^^xsd:string) AnnotationAssertion( "ICD9CM:375.31"^^xsd:string) AnnotationAssertion( "acute lacrimal canaliculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6969"^^xsd:string) AnnotationAssertion(rdfs:label "acute canaliculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute inflammation of lacrimal passage) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.3"^^xsd:string) AnnotationAssertion( "ICD9CM:375.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6970"^^xsd:string) AnnotationAssertion(rdfs:label "acute inflammation of lacrimal passage"^^xsd:string) SubClassOf( ) # Class: (bladder urothelial papillary carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7383"^^xsd:string) AnnotationAssertion( "urothelial papillary carcinoma of the bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6975"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urothelial papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (micropapillary variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008512"^^xsd:string) AnnotationAssertion( "NCI:C27202"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6976"^^xsd:string) AnnotationAssertion(rdfs:label "micropapillary variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic cholera) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3488"^^xsd:string) AnnotationAssertion( "Verner-Morrison syndrome"^^xsd:string) AnnotationAssertion( "excessive vasoactive intestinal peptide secretion"^^xsd:string) AnnotationAssertion( "pancreatic WDHA syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6977"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic cholera"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dentin sensitivity) AnnotationAssertion(Annotation( "MESH:D003807"^^xsd:string) "Pain associated with exposed DENTIN surfaces of the teeth."^^xsd:string) AnnotationAssertion( "RDO:0005340"^^xsd:string) AnnotationAssertion( "MESH:D003807"^^xsd:string) AnnotationAssertion( "NCI:C50778"^^xsd:string) AnnotationAssertion( "Dentin Hypersensitivities"^^xsd:string) AnnotationAssertion( "Dentin Hypersensitivity"^^xsd:string) AnnotationAssertion( "Dentin Sensitivities"^^xsd:string) AnnotationAssertion( "Dentine Hypersensitivities"^^xsd:string) AnnotationAssertion( "Dentine Hypersensitivity"^^xsd:string) AnnotationAssertion( "Dentine Sensitivities"^^xsd:string) AnnotationAssertion( "Dentine Sensitivity"^^xsd:string) AnnotationAssertion( "Tooth Sensitivities"^^xsd:string) AnnotationAssertion( "Tooth Sensitivity"^^xsd:string) AnnotationAssertion( "sensitive dentin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:698"^^xsd:string) AnnotationAssertion(rdfs:label "dentin sensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral epithelioid sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27473"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6988"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral epithelioid sarcoma"^^xsd:string) SubClassOf( ) # Class: (mitochondrial myopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mitochondrial_myopathies"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm"^^xsd:string) "A myopathy that is characterized by mitochondrial dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251900"^^xsd:string) AnnotationAssertion( "MESH:D017240"^^xsd:string) AnnotationAssertion( "NCI:C101328"^^xsd:string) AnnotationAssertion( "Luft disease"^^xsd:string) AnnotationAssertion( "Luft's Disease"^^xsd:string) AnnotationAssertion( "Lufts Disease"^^xsd:string) AnnotationAssertion( "Megaconial Myopathy"^^xsd:string) AnnotationAssertion( "Mitochondrial Myopathies"^^xsd:string) AnnotationAssertion( "Pleoconial Myopathies"^^xsd:string) AnnotationAssertion( "megaconial myopathies"^^xsd:string) AnnotationAssertion( "pleoconial myopathy"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL MYOPATHY, ISOLATED"^^xsd:string) AnnotationAssertion( "MYOPATHY, MITOCHONDRIAL, LATE-ONSET"^^xsd:string) AnnotationAssertion( "MYOTONIC DYSTROPHY-LIKE MYOPATHY"^^xsd:string) AnnotationAssertion( "skeletal myopathy, responsive to riboflavin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:699"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intraocular mixed cell type melanoma) AnnotationAssertion( "NCI:C7989"^^xsd:string) AnnotationAssertion( "RDO:9001856"^^xsd:string) AnnotationAssertion( "mixed cell type Uveal melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6992"^^xsd:string) AnnotationAssertion(rdfs:label "intraocular mixed cell type melanoma"^^xsd:string) SubClassOf( ) # Class: (iris mixed cell melanoma) AnnotationAssertion( "NCI:C6101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6993"^^xsd:string) AnnotationAssertion(rdfs:label "iris mixed cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (malignant iris melanoma) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "NCI:C9088"^^xsd:string) AnnotationAssertion( "malignant melanoma of iris"^^xsd:string) AnnotationAssertion( "melanoma of the iris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6994"^^xsd:string) AnnotationAssertion(rdfs:label "malignant iris melanoma"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (intermediate cell type choroid melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6100"^^xsd:string) AnnotationAssertion( "mixed cell melanoma of Choroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6996"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate cell type choroid melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermediate cell type ciliary body melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6997"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate cell type ciliary body melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder mucinous carcinoma) AnnotationAssertion( "NCI:C5744"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5744"^^xsd:string) "Colloidal carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:6998"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (disease of anatomical entity) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic"^^xsd:string) "A disease that manifests in a defined anatomical structure. (DO)"^^xsd:string) AnnotationAssertion( "DOID:1"^^xsd:string) AnnotationAssertion( "DOID:2"^^xsd:string) AnnotationAssertion( "DOID:5"^^xsd:string) AnnotationAssertion( "DOID:71"^^xsd:string) AnnotationAssertion( "DOID:72"^^xsd:string) AnnotationAssertion( "DOID:8"^^xsd:string) AnnotationAssertion( "EFO:0000524"^^xsd:string) AnnotationAssertion( "EFO:0010689"^^xsd:string) AnnotationAssertion( "head and neck disorder"^^xsd:string) AnnotationAssertion( "perineum disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7"^^xsd:string) AnnotationAssertion(rdfs:label "disease of anatomical entity"^^xsd:string) SubClassOf( ) # Class: (mitochondrial metabolism disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mitochondrial_disease"^^xsd:string) "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE MITOCHONDRION"^^xsd:string) AnnotationAssertion( "EFO:0000591"^^xsd:string) AnnotationAssertion( "GARD:7048"^^xsd:string) AnnotationAssertion( "MESH:D028361"^^xsd:string) AnnotationAssertion( "MONDO:0004069"^^xsd:string) AnnotationAssertion( "Mitochondrial Disease"^^xsd:string) AnnotationAssertion( "Mitochondrial Disorder"^^xsd:string) AnnotationAssertion( "Mitochondrial Disorders"^^xsd:string) AnnotationAssertion( "Mitochondrial Electron Transport Chain Deficiencies"^^xsd:string) AnnotationAssertion( "Mitochondrial Respiratory Chain Deficiencies"^^xsd:string) AnnotationAssertion( "Oxidative Phosphorylation Deficiencies"^^xsd:string) AnnotationAssertion( "Oxidative Phosphorylation Deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial diseases"^^xsd:string) AnnotationAssertion( "respiratory chain deficiencies"^^xsd:string) AnnotationAssertion( "respiratory chain deficiency"^^xsd:string) AnnotationAssertion( "EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL DISORDER DUE TO A DEFECT IN ASSEMBLY OR MATURATION OF THE RESPIRATORY CHAIN COMPLEXES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:700"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial metabolism disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ACTH-secreting pituitary adenoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cushing%27s_syndrome"^^xsd:string) "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. (DO)"^^xsd:string) AnnotationAssertion( "MIM:219090"^^xsd:string) AnnotationAssertion( "EFO:1000066"^^xsd:string) AnnotationAssertion( "GARD:12867"^^xsd:string) AnnotationAssertion( "MESH:D049913"^^xsd:string) AnnotationAssertion( "NCI:C7462"^^xsd:string) AnnotationAssertion( "ACTH Producing Pituitary Adenoma"^^xsd:string) AnnotationAssertion( "ACTH-Secreting Pituitary Adenomas"^^xsd:string) AnnotationAssertion( "ACTH-producing pituitary adenomas"^^xsd:string) AnnotationAssertion( "CUSHING DISEASE, PITUITARY"^^xsd:string) AnnotationAssertion( "Corticotroph Adenoma"^^xsd:string) AnnotationAssertion( "Corticotroph Adenomas"^^xsd:string) AnnotationAssertion( "PITA4"^^xsd:string) AnnotationAssertion( "PITUITARY ADENOMA 4, ACTH-SECRETING"^^xsd:string) AnnotationAssertion( "PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC"^^xsd:string) AnnotationAssertion( "Pituitary Corticotropin Secreting Adenoma"^^xsd:string) AnnotationAssertion( "corticotropinoma"^^xsd:string) AnnotationAssertion( "pituitary corticotropin-secreting adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7004"^^xsd:string) AnnotationAssertion(rdfs:label "ACTH-secreting pituitary adenoma"^^xsd:string) SubClassOf( ) # Class: (gemistocytic astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9411/3"^^xsd:string) AnnotationAssertion( "NCI:C4321"^^xsd:string) AnnotationAssertion( "gemistocytic astrocytic tumor"^^xsd:string) AnnotationAssertion( "gemistocytic astrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7005"^^xsd:string) AnnotationAssertion(rdfs:label "gemistocytic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (childhood cerebral astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4347"^^xsd:string) AnnotationAssertion( "pediatric astrocytoma of cerebrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7007"^^xsd:string) AnnotationAssertion(rdfs:label "childhood cerebral astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (protoplasmic astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:9410/3"^^xsd:string) AnnotationAssertion( "NCI:C4320"^^xsd:string) AnnotationAssertion( "protoplasmic astrocytic tumor"^^xsd:string) AnnotationAssertion( "protoplasmic astrocytomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7008"^^xsd:string) AnnotationAssertion(rdfs:label "protoplasmic astrocytoma"^^xsd:string) SubClassOf( ) # Class: (dentin dysplasia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dentin_dysplasia"^^xsd:string) "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003805"^^xsd:string) AnnotationAssertion( "ORDO:1635"^^xsd:string) AnnotationAssertion( "anomalous dysplasia of dentin"^^xsd:string) AnnotationAssertion( "dentin dysplasias"^^xsd:string) AnnotationAssertion( "dentinal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:701"^^xsd:string) AnnotationAssertion(rdfs:label "dentin dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian mucinous cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24772358"^^xsd:string) "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40041"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7013"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian mucinous cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (infiltrating lipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7450"^^xsd:string) AnnotationAssertion( "NCI:C7451"^^xsd:string) AnnotationAssertion( "intramuscular lipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7014"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating lipoma"^^xsd:string) SubClassOf( ) # Class: (tendon sheath lipoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26665243"^^xsd:string) "A synovium neoplasm that is located_in the tendon sheath. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6499"^^xsd:string) AnnotationAssertion( "RDO:9004403"^^xsd:string) AnnotationAssertion( "lipoma of the tendon sheath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7016"^^xsd:string) AnnotationAssertion(rdfs:label "tendon sheath lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lumbosacral lipoma) AnnotationAssertion( "NCI:C6500"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7017"^^xsd:string) AnnotationAssertion(rdfs:label "lumbosacral lipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucinous intrahepatic cholangiocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41618"^^xsd:string) AnnotationAssertion( "RDO:9002873"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7024"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous intrahepatic cholangiocarcinoma"^^xsd:string) SubClassOf( ) # Class: (bronchial mucus gland adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5664"^^xsd:string) AnnotationAssertion( "RDO:9002008"^^xsd:string) AnnotationAssertion( "adenoma of bronchial mucus gland"^^xsd:string) AnnotationAssertion( "adenoma of the Bronchial Mucus gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7030"^^xsd:string) AnnotationAssertion(rdfs:label "bronchial mucus gland adenoma"^^xsd:string) SubClassOf( ) # Class: (glottis squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24760498"^^xsd:string) "A squamous cell carcinoma that is located_in the glottis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004080"^^xsd:string) AnnotationAssertion( "NCI:C8186"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the glottis"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of glottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7031"^^xsd:string) AnnotationAssertion(rdfs:label "glottis squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bile duct clear cell adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19144165"^^xsd:string) "A clear cell adenocarcinoma that is located_in the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5775"^^xsd:string) AnnotationAssertion( "RDO:9004431"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5775"^^xsd:string) "bile duct clear cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7032"^^xsd:string) AnnotationAssertion(rdfs:label "bile duct clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anisakiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf"^^xsd:string) "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007146"^^xsd:string) AnnotationAssertion( "GARD:693"^^xsd:string) AnnotationAssertion( "ICD10CM:B81.0"^^xsd:string) AnnotationAssertion( "ICD9CM:127.1"^^xsd:string) AnnotationAssertion( "MESH:D017129"^^xsd:string) AnnotationAssertion( "NCI:C128393"^^xsd:string) AnnotationAssertion( "Anisakiases"^^xsd:string) AnnotationAssertion( "infection by Anisakis larva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7033"^^xsd:string) AnnotationAssertion(rdfs:label "anisakiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood immature teratoma of ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3983017"^^xsd:string) "An immature teratoma of overy that presents in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9080/3"^^xsd:string) AnnotationAssertion( "NCI:C6547"^^xsd:string) AnnotationAssertion( "RDO:9005087"^^xsd:string) AnnotationAssertion( "pediatric immature teratoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7037"^^xsd:string) AnnotationAssertion(rdfs:label "childhood immature teratoma of ovary"^^xsd:string) SubClassOf( ) # Class: (Borst-Jadassohn intraepidermal carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004997"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:403886007"^^xsd:string) "Bowen's disease, clonal"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4110"^^xsd:string) "Intraepidermal Epithelioma of Jadassohn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7039"^^xsd:string) AnnotationAssertion(rdfs:label "Borst-Jadassohn intraepidermal carcinoma"^^xsd:string) SubClassOf( ) # Class: (uveal epithelioid cell melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000244"^^xsd:string) AnnotationAssertion( "NCI:C35780"^^xsd:string) AnnotationAssertion( "RDO:9003803"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7040"^^xsd:string) AnnotationAssertion(rdfs:label "uveal epithelioid cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroid epithelioid cell melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6102"^^xsd:string) AnnotationAssertion( "choroidal epithelioid cell melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7041"^^xsd:string) AnnotationAssertion(rdfs:label "choroid epithelioid cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ciliary body epithelioid cell melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7042"^^xsd:string) AnnotationAssertion(rdfs:label "ciliary body epithelioid cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (basaloid lung carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7266"^^xsd:string) AnnotationAssertion( "RDO:9002964"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7045"^^xsd:string) AnnotationAssertion(rdfs:label "basaloid lung carcinoma"^^xsd:string) SubClassOf( ) # Class: (cervical basaloid squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/30695899"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31393622"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40189"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7046"^^xsd:string) AnnotationAssertion(rdfs:label "cervical basaloid squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (penis basaloid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6980"^^xsd:string) AnnotationAssertion( "RDO:9002248"^^xsd:string) AnnotationAssertion( "squamous cell carcinoma of penis, Basaloid type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7047"^^xsd:string) AnnotationAssertion(rdfs:label "penis basaloid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar basaloid squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.hindawi.com/journals/jsc/2011/951250/"^^xsd:string) "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40286"^^xsd:string) AnnotationAssertion( "vulvar basaloid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7048"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar basaloid squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (basaloid squamous cell skin carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7049"^^xsd:string) AnnotationAssertion(rdfs:label "basaloid squamous cell skin carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leber hereditary optic neuropathy) AnnotationAssertion(Annotation( "MESH:D029242"^^xsd:string) "A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))"^^xsd:string) AnnotationAssertion( "MIM:535000"^^xsd:string) AnnotationAssertion( "GARD:6870"^^xsd:string) AnnotationAssertion( "ICD10CM:H47.22"^^xsd:string) AnnotationAssertion( "MESH:D029242"^^xsd:string) AnnotationAssertion( "NCI:C84808"^^xsd:string) AnnotationAssertion( "LHON"^^xsd:string) AnnotationAssertion( "Leber Optic Atrophy"^^xsd:string) AnnotationAssertion( "Leber Optic Atrophy and Dystonia"^^xsd:string) AnnotationAssertion( "Leber Optic Neuropathy"^^xsd:string) AnnotationAssertion( "Leber disease"^^xsd:string) AnnotationAssertion( "Leber hereditary optic atrophy"^^xsd:string) AnnotationAssertion( "Leber's Disease"^^xsd:string) AnnotationAssertion( "Leber's Diseases"^^xsd:string) AnnotationAssertion( "Leber's Hereditary Optic Atrophy"^^xsd:string) AnnotationAssertion( "Leber's Hereditary Optic Neuropathy"^^xsd:string) AnnotationAssertion( "Leber's Optic Atrophy"^^xsd:string) AnnotationAssertion( "Leber's optic neuropathy"^^xsd:string) AnnotationAssertion( "Lebers Disease"^^xsd:string) AnnotationAssertion( "Lebers optic neuropathy"^^xsd:string) AnnotationAssertion( "hereditary optic neuroretinopathies"^^xsd:string) AnnotationAssertion( "hereditary optic neuroretinopathy"^^xsd:string) AnnotationAssertion( "optic atrophy, Leber type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:705"^^xsd:string) AnnotationAssertion(rdfs:label "Leber hereditary optic neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus basaloid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6456"^^xsd:string) AnnotationAssertion( "basaloid carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7050"^^xsd:string) AnnotationAssertion(rdfs:label "thymus basaloid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophageal basaloid squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7032"^^xsd:string) AnnotationAssertion( "basaloid squamous carcinoma of esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7051"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal basaloid squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple skull base meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004094"^^xsd:string) AnnotationAssertion( "NCI:C5279"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7054"^^xsd:string) AnnotationAssertion(rdfs:label "multiple skull base meningioma"^^xsd:string) SubClassOf( ) # Class: (mature B-cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000096"^^xsd:string) AnnotationAssertion( "NCI:C27910"^^xsd:string) AnnotationAssertion( "mature B-cell lymphocytic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:706"^^xsd:string) AnnotationAssertion(rdfs:label "mature B-cell neoplasm"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (B-cell lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/B-cell_lymphoma"^^xsd:string) "A non-Hodgkin lymphoma that has_material_basis_in B cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001938"^^xsd:string) AnnotationAssertion( "GARD:5877"^^xsd:string) AnnotationAssertion( "MESH:D016393"^^xsd:string) AnnotationAssertion( "NCI:C27907"^^xsd:string) AnnotationAssertion( "NCI:C3457"^^xsd:string) AnnotationAssertion( "B-Cell Non-Hodgkin Lymphoma, Somatic"^^xsd:string) AnnotationAssertion( "B-cell lymphocytic neoplasm"^^xsd:string) AnnotationAssertion( "B-cell lymphomas"^^xsd:string) AnnotationAssertion( "B-cell non-Hodgkins lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:707"^^xsd:string) AnnotationAssertion(rdfs:label "B-cell lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spinal cord dermoid cyst) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23772254"^^xsd:string) "A dermoid cyst that is located_in the spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6808"^^xsd:string) AnnotationAssertion( "spinal cord dermoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7071"^^xsd:string) AnnotationAssertion(rdfs:label "spinal cord dermoid cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast lipid-rich carcinoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365"^^xsd:string) "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40365"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7076"^^xsd:string) AnnotationAssertion(rdfs:label "breast lipid-rich carcinoma"^^xsd:string) SubClassOf( ) # Class: (malignant melanocytic peripheral nerve sheath tumor of mediastinum) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6630"^^xsd:string) AnnotationAssertion( "mediastinal melanocytic MPNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7077"^^xsd:string) AnnotationAssertion(rdfs:label "malignant melanocytic peripheral nerve sheath tumor of mediastinum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult cystic teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27038684"^^xsd:string) "A cystic teratoma that is present in an adult. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7079"^^xsd:string) AnnotationAssertion(rdfs:label "adult cystic teratoma"^^xsd:string) SubClassOf( ) # Class: (lung mixed small cell and squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9423"^^xsd:string) AnnotationAssertion( "combined small and large cell lung cancer"^^xsd:string) AnnotationAssertion( "mixed small cell and squamous cell carcinoma of lung"^^xsd:string) AnnotationAssertion( "small cell and large cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "small cell and squamous cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7081"^^xsd:string) AnnotationAssertion(rdfs:label "lung mixed small cell and squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (multicentric papillary thyroid carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30884463/"^^xsd:string) "A papillary thyroid carcinoma arising in the thyroid gland from multiple foci. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37304"^^xsd:string) AnnotationAssertion( "RDO:9003807"^^xsd:string) AnnotationAssertion( "Multifocal papillary thyroid carcinoma (PTC)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7086"^^xsd:string) AnnotationAssertion(rdfs:label "multicentric papillary thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (columnar cell papillary thyroid carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/33783022/"^^xsd:string) "A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8344/3"^^xsd:string) AnnotationAssertion( "MONDO:0004102"^^xsd:string) AnnotationAssertion( "NCI:C35830"^^xsd:string) AnnotationAssertion( "Columnar cell PTC"^^xsd:string) AnnotationAssertion( "Columnar cell variant (CCV)"^^xsd:string) AnnotationAssertion( "columnar cell variant papillary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7088"^^xsd:string) AnnotationAssertion(rdfs:label "columnar cell papillary thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (tall cell papillary thyroid carcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32701516/"^^xsd:string) "A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004103"^^xsd:string) AnnotationAssertion( "NCI:C35558"^^xsd:string) AnnotationAssertion( "Tall Cell Variant Thyroid Gland Papillary Carcinoma"^^xsd:string) AnnotationAssertion( "Tall cell PTC"^^xsd:string) AnnotationAssertion( "tall cell variant papillary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7089"^^xsd:string) AnnotationAssertion(rdfs:label "tall cell papillary thyroid carcinoma"^^xsd:string) SubClassOf( ) # Class: (splenic manifestation of hairy cell leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:202.47"^^xsd:string) AnnotationAssertion( "NCI:C7301"^^xsd:string) AnnotationAssertion( "hairy cell leukaemia of spleen"^^xsd:string) AnnotationAssertion( "hairy cell leukemia of spleen"^^xsd:string) AnnotationAssertion( "splenic manifestation of hairy cell leukaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:709"^^xsd:string) AnnotationAssertion(rdfs:label "splenic manifestation of hairy cell leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood epithelioid sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8804/3"^^xsd:string) AnnotationAssertion( "NCI:C8095"^^xsd:string) AnnotationAssertion( "pediatric epithelioid sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7095"^^xsd:string) AnnotationAssertion(rdfs:label "childhood epithelioid sarcoma"^^xsd:string) SubClassOf( ) # Class: (macrocystic pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39924"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7097"^^xsd:string) AnnotationAssertion(rdfs:label "macrocystic pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (splenic manifestation of leukemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/"^^xsd:string) "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7296"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "splenic leukemia"^^xsd:string) AnnotationAssertion( "DOID:710"^^xsd:string) AnnotationAssertion(rdfs:label "splenic manifestation of leukemia"^^xsd:string) SubClassOf( ) # Class: (diaphragma sellae meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5283"^^xsd:string) AnnotationAssertion( "meningioma of diaphragm sellae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7103"^^xsd:string) AnnotationAssertion(rdfs:label "diaphragma sellae meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epiglottis neoplasm) AnnotationAssertion( "NCI:C4933"^^xsd:string) AnnotationAssertion( "epiglottic tumor"^^xsd:string) AnnotationAssertion( "neoplasm of epiglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7105"^^xsd:string) AnnotationAssertion(rdfs:label "epiglottis neoplasm"^^xsd:string) SubClassOf( ) # Class: (refractory hairy cell leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hairy_cell_leukemia"^^xsd:string) Annotation( "http://www.medterms.com/script/main/art.asp?articlekey=5274"^^xsd:string) "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.42"^^xsd:string) AnnotationAssertion( "NCI:C142882"^^xsd:string) AnnotationAssertion( "NCI:C8030"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:711"^^xsd:string) AnnotationAssertion(rdfs:label "refractory hairy cell leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (refractory hematologic cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=45708"^^xsd:string) Annotation( "http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863"^^xsd:string) "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:712"^^xsd:string) AnnotationAssertion(rdfs:label "refractory hematologic cancer"^^xsd:string) SubClassOf( ) # Class: (radiation cystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N30.4"^^xsd:string) AnnotationAssertion( "ICD9CM:595.82"^^xsd:string) AnnotationAssertion( "NCI:C123174"^^xsd:string) AnnotationAssertion( "irradiation cystitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7127"^^xsd:string) AnnotationAssertion(rdfs:label "radiation cystitis"^^xsd:string) SubClassOf( ) # Class: (HCL-V) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7401"^^xsd:string) AnnotationAssertion( "hairy cell leukaemia variant"^^xsd:string) AnnotationAssertion( "hairy cell leukemia variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:713"^^xsd:string) AnnotationAssertion(rdfs:label "HCL-V"^^xsd:string) SubClassOf( ) # Class: (urinary bladder small cell neuroendocrine carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000129"^^xsd:string) AnnotationAssertion( "NCI:C9461"^^xsd:string) AnnotationAssertion( "small cell neuroendocrine carcinoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "small cell/neuroendocrine carcinoma of urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7132"^^xsd:string) AnnotationAssertion(rdfs:label "urinary bladder small cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000266"^^xsd:string) AnnotationAssertion( "NCI:C6763"^^xsd:string) AnnotationAssertion( "Gallbladder Oat Cell Carcinoma"^^xsd:string) AnnotationAssertion( "Gallbladder Small Cell NEC"^^xsd:string) AnnotationAssertion( "Gallbladder Small Cell Neuroendocrine Carcinoma"^^xsd:string) AnnotationAssertion( "oat cell carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7133"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6762"^^xsd:string) AnnotationAssertion( "Oat cell carcinoma of oesophagus"^^xsd:string) AnnotationAssertion( "oat cell carcinoma of esophagus"^^xsd:string) AnnotationAssertion( "oesophagus small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7134"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ampulla of Vater small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6655"^^xsd:string) AnnotationAssertion( "ampullary small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7136"^^xsd:string) AnnotationAssertion(rdfs:label "ampulla of Vater small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cystitis cystica) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28466074"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29552345"^^xsd:string) "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:595.81"^^xsd:string) AnnotationAssertion( "NCI:C96230"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7138"^^xsd:string) AnnotationAssertion(rdfs:label "cystitis cystica"^^xsd:string) SubClassOf( ) # Class: (endometrial small cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24615329"^^xsd:string) "An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000239"^^xsd:string) AnnotationAssertion( "NCI:C40155"^^xsd:string) AnnotationAssertion( "RDO:9002084"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7139"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bartholin's gland small cell carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40298"^^xsd:string) AnnotationAssertion( "Bartholin gland small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7140"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's gland small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (prostate small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000499"^^xsd:string) AnnotationAssertion( "NCI:C6766"^^xsd:string) AnnotationAssertion( "prostate oat cell carcinoma"^^xsd:string) AnnotationAssertion( "small cell carcinoma of prostate"^^xsd:string) AnnotationAssertion( "METASTATIC PROSTATE SMALL CELL CARCINOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7141"^^xsd:string) AnnotationAssertion(rdfs:label "prostate small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000578"^^xsd:string) AnnotationAssertion( "NCI:C6460"^^xsd:string) AnnotationAssertion( "RDO:9003847"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6460"^^xsd:string) "small cell carcinoma of the Thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7142"^^xsd:string) AnnotationAssertion(rdfs:label "thymus small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (laryngeal small cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000320"^^xsd:string) AnnotationAssertion( "NCI:C6025"^^xsd:string) AnnotationAssertion( "small cell carcinoma of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7144"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal small cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Langerhans cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/25805533/"^^xsd:string) "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007336"^^xsd:string) AnnotationAssertion( "GARD:10491"^^xsd:string) AnnotationAssertion( "ICD10CM:C96.4"^^xsd:string) AnnotationAssertion( "ICDO:9756/3"^^xsd:string) AnnotationAssertion( "MESH:D054752"^^xsd:string) AnnotationAssertion( "NCI:C6921"^^xsd:string) AnnotationAssertion( "ORDO:86897"^^xsd:string) AnnotationAssertion( "Langerhans cell sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7146"^^xsd:string) AnnotationAssertion(rdfs:label "Langerhans cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ankylosing spondylitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ankylosing_spondylitis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm"^^xsd:string) Annotation( "http://www.spondylitis.org/about/as.aspx"^^xsd:string) "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003898"^^xsd:string) AnnotationAssertion( "GARD:9518"^^xsd:string) AnnotationAssertion( "ICD10CM:M45"^^xsd:string) AnnotationAssertion( "ICD9CM:720.0"^^xsd:string) AnnotationAssertion( "MESH:D013167"^^xsd:string) AnnotationAssertion( "MIM:PS106300"^^xsd:string) AnnotationAssertion( "NCI:C84564"^^xsd:string) AnnotationAssertion( "ORDO:825"^^xsd:string) AnnotationAssertion( "Bechterew Disease"^^xsd:string) AnnotationAssertion( "Bechterew syndrome"^^xsd:string) AnnotationAssertion( "Bechterew's disease"^^xsd:string) AnnotationAssertion( "Bechterews disease"^^xsd:string) AnnotationAssertion( "Bekhterev syndrome"^^xsd:string) AnnotationAssertion( "Bekhterev's disease"^^xsd:string) AnnotationAssertion( "Marie Struempell disease"^^xsd:string) AnnotationAssertion( "Marie Strumpell spondylitis"^^xsd:string) AnnotationAssertion( "Marie-Strumpell disease"^^xsd:string) AnnotationAssertion( "ankylosing spondylarthritides"^^xsd:string) AnnotationAssertion( "ankylosing spondylarthritis"^^xsd:string) AnnotationAssertion( "ankylosing spondyloarthritides"^^xsd:string) AnnotationAssertion( "ankylosing spondyloarthritis"^^xsd:string) AnnotationAssertion( "rheumatoid spondylitis"^^xsd:string) AnnotationAssertion( "spondylarthritis ankylopoietica"^^xsd:string) AnnotationAssertion( "spondylitis ankylopoietica"^^xsd:string) AnnotationAssertion( "spondyloarthritis ankylopoietica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ankylosing spondylitis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:7147"^^xsd:string) AnnotationAssertion(rdfs:label "ankylosing spondylitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (rheumatoid arthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rheumatoid_arthritis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis"^^xsd:string) "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180300"^^xsd:string) AnnotationAssertion( "EFO:0000685"^^xsd:string) AnnotationAssertion( "EFO:0009459"^^xsd:string) AnnotationAssertion( "EFO:0009460"^^xsd:string) AnnotationAssertion( "ICD10CM:M06.9"^^xsd:string) AnnotationAssertion( "ICD9CM:714.0"^^xsd:string) AnnotationAssertion( "MESH:D001172"^^xsd:string) AnnotationAssertion( "NCI:C2884"^^xsd:string) AnnotationAssertion( "RA"^^xsd:string) AnnotationAssertion( "atrophic arthritis"^^xsd:string) AnnotationAssertion( "rheumatic arthritis or polyarthritis"^^xsd:string) AnnotationAssertion( "ACPA-negative rheumatoid arthritis"^^xsd:string) AnnotationAssertion( "ACPA-positive rheumatoid arthritis"^^xsd:string) AnnotationAssertion( "RHEUMATOID ARTHRITIS, PROGRESSION OF"^^xsd:string) AnnotationAssertion( "SLC22A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "rheumatoid arthritis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:7148"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatoid arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (prostate stromal sarcoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html"^^xsd:string) "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5524"^^xsd:string) AnnotationAssertion( "RDO:9001831"^^xsd:string) AnnotationAssertion( "stromal sarcoma of the prostate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7152"^^xsd:string) AnnotationAssertion(rdfs:label "prostate stromal sarcoma"^^xsd:string) SubClassOf( ) # Class: (anaplastic oligodendroglioma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma"^^xsd:string) Annotation( "https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma"^^xsd:string) Annotation( "https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma"^^xsd:string) "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-28T23:10:11Z"^^xsd:string) AnnotationAssertion( "EFO:0002501"^^xsd:string) AnnotationAssertion( "NCI:C4326"^^xsd:string) AnnotationAssertion( "anaplastic oligodendrogliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7154"^^xsd:string) AnnotationAssertion(rdfs:label "anaplastic oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (rectal leiomyoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29657702"^^xsd:string) "A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5552"^^xsd:string) AnnotationAssertion( "leiomyoma of rectum"^^xsd:string) AnnotationAssertion( "rectum leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7160"^^xsd:string) AnnotationAssertion(rdfs:label "rectal leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subacute thyroiditis) AnnotationAssertion(Annotation( "MESH:D013968"^^xsd:string) "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection."^^xsd:string) AnnotationAssertion( "EFO:1001194"^^xsd:string) AnnotationAssertion( "ICD10CM:E06.1"^^xsd:string) AnnotationAssertion( "ICD9CM:245.1"^^xsd:string) AnnotationAssertion( "MESH:D013968"^^xsd:string) AnnotationAssertion( "NCI:C35071"^^xsd:string) AnnotationAssertion( "NCI:C35828"^^xsd:string) AnnotationAssertion( "De Quervain Thyroiditis"^^xsd:string) AnnotationAssertion( "Giant Cell Thyroiditis"^^xsd:string) AnnotationAssertion( "Granulomatous Thyroiditides"^^xsd:string) AnnotationAssertion( "Granulomatous Thyroiditis"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35828"^^xsd:string) "Subacute Granulomatous Thyroiditis"^^xsd:string) AnnotationAssertion( "Subacute Nonsuppurative Thyroiditides"^^xsd:string) AnnotationAssertion( "Subacute Nonsuppurative Thyroiditis"^^xsd:string) AnnotationAssertion( "Subacute Painful Thyroiditides"^^xsd:string) AnnotationAssertion( "Subacute Painful Thyroiditis"^^xsd:string) AnnotationAssertion( "de Quervain's thyroiditis"^^xsd:string) AnnotationAssertion( "giant cell thyroiditides"^^xsd:string) AnnotationAssertion( "subacute thyroiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7165"^^xsd:string) AnnotationAssertion(rdfs:label "subacute thyroiditis"^^xsd:string) SubClassOf( ) # Class: (thyroiditis) AnnotationAssertion(Annotation( "MESH:D013966"^^xsd:string) "Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes."^^xsd:string) AnnotationAssertion( "ICD10CM:E06"^^xsd:string) AnnotationAssertion( "ICD9CM:245"^^xsd:string) AnnotationAssertion( "MESH:D013966"^^xsd:string) AnnotationAssertion( "NCI:C26894"^^xsd:string) AnnotationAssertion( "Thyroiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7166"^^xsd:string) AnnotationAssertion(rdfs:label "thyroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung occult adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6699"^^xsd:string) AnnotationAssertion( "occult adenocarcinoma of lung"^^xsd:string) AnnotationAssertion( "occult adenocarcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7168"^^xsd:string) AnnotationAssertion(rdfs:label "lung occult adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (lung occult large cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004128"^^xsd:string) AnnotationAssertion( "NCI:C6685"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Occult large cell carcinoma of the lung"^^xsd:string) AnnotationAssertion( "DOID:7169"^^xsd:string) AnnotationAssertion(rdfs:label "lung occult large cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (cloacogenic carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8124/3"^^xsd:string) AnnotationAssertion( "NCI:C8255"^^xsd:string) AnnotationAssertion( "cloacogenic anal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7173"^^xsd:string) AnnotationAssertion(rdfs:label "cloacogenic carcinoma"^^xsd:string) SubClassOf( ) # Class: (anus basaloid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8256"^^xsd:string) AnnotationAssertion( "anal basaloid carcinoma"^^xsd:string) AnnotationAssertion( "basaloid carcinoma of the anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7174"^^xsd:string) AnnotationAssertion(rdfs:label "anus basaloid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal Buschke-Lowenstein tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7470"^^xsd:string) AnnotationAssertion( "anal giant (malignant) condyloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7175"^^xsd:string) AnnotationAssertion(rdfs:label "anal Buschke-Lowenstein tumor"^^xsd:string) SubClassOf( ) # Class: (anal canal squamous cell carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Squamous-cell_carcinoma"^^xsd:string) "An anal canal cancer that derives_from epithelial squamous cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7469"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7177"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed eosinophil-basophil adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4148"^^xsd:string) AnnotationAssertion( "mixed acidophil-basophil adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7179"^^xsd:string) AnnotationAssertion(rdfs:label "mixed eosinophil-basophil adenoma"^^xsd:string) SubClassOf( ) # Class: (autoimmune hemolytic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia"^^xsd:string) "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:205700"^^xsd:string) AnnotationAssertion( "EFO:1001264"^^xsd:string) AnnotationAssertion( "GARD:5870"^^xsd:string) AnnotationAssertion( "ICD9CM:283.0"^^xsd:string) AnnotationAssertion( "MESH:D000744"^^xsd:string) AnnotationAssertion( "NCI:C34378"^^xsd:string) AnnotationAssertion( "AIHA"^^xsd:string) AnnotationAssertion( "Autoimmune Hemolytic Anemias"^^xsd:string) AnnotationAssertion( "Cold Agglutinin Disease"^^xsd:string) AnnotationAssertion( "Cold Agglutinin Diseases"^^xsd:string) AnnotationAssertion( "Cold Antibody Disease"^^xsd:string) AnnotationAssertion( "Cold Antibody Diseases"^^xsd:string) AnnotationAssertion( "Cold Antibody Hemolytic Anemia"^^xsd:string) AnnotationAssertion( "acquired autoimmune hemolytic anemia"^^xsd:string) AnnotationAssertion( "acquired idiopathic hemolytic anemia"^^xsd:string) AnnotationAssertion( "autoimmune haemolytic anaemia"^^xsd:string) AnnotationAssertion( "autoimmune hemolytic anaemia"^^xsd:string) AnnotationAssertion( "idiopathic autoimmune hemolytic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:718"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune hemolytic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign dermal neurilemmoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5569"^^xsd:string) AnnotationAssertion( "benign schwannoma of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7181"^^xsd:string) AnnotationAssertion(rdfs:label "benign dermal neurilemmoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subacute lymphocytic thyroiditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35829"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7187"^^xsd:string) AnnotationAssertion(rdfs:label "subacute lymphocytic thyroiditis"^^xsd:string) SubClassOf( ) # Class: (autoimmune thyroiditis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Autoimmune_thyroiditis"^^xsd:string) "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608173"^^xsd:string) AnnotationAssertion( "MIM:608174"^^xsd:string) AnnotationAssertion( "MIM:608175"^^xsd:string) AnnotationAssertion( "MIM:608176"^^xsd:string) AnnotationAssertion( "TG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0006813"^^xsd:string) AnnotationAssertion( "ICD10CM:E06.3"^^xsd:string) AnnotationAssertion( "MESH:D013967"^^xsd:string) AnnotationAssertion( "NCI:C38766"^^xsd:string) AnnotationAssertion( "autoimmune thyroiditides"^^xsd:string) AnnotationAssertion( "lymphocytic thyroiditides"^^xsd:string) AnnotationAssertion( "lymphocytic thyroiditis"^^xsd:string) AnnotationAssertion( "lymphomatous thyroiditides"^^xsd:string) AnnotationAssertion( "lymphomatous thyroiditis"^^xsd:string) AnnotationAssertion( "Hashimoto thyroiditis"^^xsd:string) AnnotationAssertion( "Hashimoto's thyroiditis"^^xsd:string) AnnotationAssertion( "atrophic thyroiditis"^^xsd:string) AnnotationAssertion( "chronic lymphocytic thyroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AITD1"^^xsd:string) AnnotationAssertion( "AITD2"^^xsd:string) AnnotationAssertion( "AITD3"^^xsd:string) AnnotationAssertion( "AITD4"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "DOID:7188"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune thyroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian endometrioid cystadenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30725635/"^^xsd:string) "An ovarian cystadenoma that is characterized by the presence of endometrial tissue. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40075"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7191"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrioid cystadenoma"^^xsd:string) SubClassOf( ) # Class: (hereditary conventional renal cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36260"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7192"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary conventional renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (maxillary sinus adenoid cystic carcinoma) AnnotationAssertion( "EFO:1000365"^^xsd:string) AnnotationAssertion( "NCI:C6239"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of maxillary sinus"^^xsd:string) AnnotationAssertion( "adenoid cystic carcinoma of the maxillary sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7198"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus adenoid cystic carcinoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (normocytic anemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK565880"^^xsd:string) "An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004139"^^xsd:string) AnnotationAssertion( "NCI:C35142"^^xsd:string) AnnotationAssertion( "Normocytic normochromic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:720"^^xsd:string) AnnotationAssertion(rdfs:label "normocytic anemia"^^xsd:string) SubClassOf( ) # Class: (intermediate malignant teratoma) AnnotationAssertion(Annotation( "http://codes.iarc.fr/code/3630"^^xsd:string) "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4288"^^xsd:string) AnnotationAssertion( "intermediate immature teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7202"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate malignant teratoma"^^xsd:string) SubClassOf( ) # Class: (melanomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9499"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7206"^^xsd:string) AnnotationAssertion(rdfs:label "melanomatosis"^^xsd:string) SubClassOf( ) # Class: (lung combined large cell neuroendocrine carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7267"^^xsd:string) AnnotationAssertion( "combined large cell neuroendocrine carcinoma of lung"^^xsd:string) AnnotationAssertion( "pulmonary combined large cell neuroendocrine carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7207"^^xsd:string) AnnotationAssertion(rdfs:label "lung combined large cell neuroendocrine carcinoma"^^xsd:string) SubClassOf( ) # Class: (psammomatous meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000500"^^xsd:string) AnnotationAssertion( "ICDO:9533/0"^^xsd:string) AnnotationAssertion( "NCI:C4331"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7210"^^xsd:string) AnnotationAssertion(rdfs:label "psammomatous meningioma"^^xsd:string) SubClassOf( ) # Class: (fibrous meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000258"^^xsd:string) AnnotationAssertion( "ICDO:9532/0"^^xsd:string) AnnotationAssertion( "NCI:C4330"^^xsd:string) AnnotationAssertion( "Fibroblastic meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7211"^^xsd:string) AnnotationAssertion(rdfs:label "fibrous meningioma"^^xsd:string) SubClassOf( ) # Class: (meningothelial meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000372"^^xsd:string) AnnotationAssertion( "ICDO:9531/0"^^xsd:string) AnnotationAssertion( "NCI:C4329"^^xsd:string) AnnotationAssertion( "RDO:9004715"^^xsd:string) AnnotationAssertion( "meningotheliomatous meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7212"^^xsd:string) AnnotationAssertion(rdfs:label "meningothelial meningioma"^^xsd:string) SubClassOf( ) # Class: (transitional meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000602"^^xsd:string) AnnotationAssertion( "ICDO:9537/0"^^xsd:string) AnnotationAssertion( "NCI:C4333"^^xsd:string) AnnotationAssertion( "transitional (mixed) meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7213"^^xsd:string) AnnotationAssertion(rdfs:label "transitional meningioma"^^xsd:string) SubClassOf( ) # Class: (noninvasive malignant thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7214"^^xsd:string) AnnotationAssertion(rdfs:label "noninvasive malignant thymoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder papillary carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15974814"^^xsd:string) "A papillary carcioma that is located_in the gallbladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5743"^^xsd:string) AnnotationAssertion( "papillary carcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7221"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gallbladder pleomorphic giant cell adenocarcinoma) AnnotationAssertion( "Pleomorphic Giant cell adenocarcinoma of the gallbladder."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5838"^^xsd:string) "Pleomorphic Giant cell adenocarcinoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7222"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder pleomorphic giant cell adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (breast giant fibroadenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/"^^xsd:string) "A breast fibroadenoma that is larger than 5 cm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4273"^^xsd:string) AnnotationAssertion( "RDO:9004272"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4273"^^xsd:string) "Giant Fibroadenoma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254846003"^^xsd:string) "Giant fibroadenoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7223"^^xsd:string) AnnotationAssertion(rdfs:label "breast giant fibroadenoma"^^xsd:string) SubClassOf( ) # Class: (spinal meninges cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C70.1"^^xsd:string) AnnotationAssertion( "ICD9CM:192.3"^^xsd:string) AnnotationAssertion( "malignant neoplasm of spinal meninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7224"^^xsd:string) AnnotationAssertion(rdfs:label "spinal meninges cancer"^^xsd:string) SubClassOf( ) # Class: (postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37201"^^xsd:string) AnnotationAssertion( "CLL/SLL with IGVH SHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7230"^^xsd:string) AnnotationAssertion(rdfs:label "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string) SubClassOf( ) # Class: (childhood CNS embryonal cell carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq"^^xsd:string) Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string) "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6208"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of paediatric CNS"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of pediatric CNS"^^xsd:string) AnnotationAssertion( "paediatric CNS embryonal cell carcinoma"^^xsd:string) AnnotationAssertion( "pediatric CNS embryonal cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7231"^^xsd:string) AnnotationAssertion(rdfs:label "childhood CNS embryonal cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system embryonal carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7010"^^xsd:string) AnnotationAssertion( "RDO:9004157"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7010"^^xsd:string) "Embryonal carcinoma of CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "embryonal carcinoma of the central nervous system"^^xsd:string) AnnotationAssertion( "DOID:7232"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system embryonal carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult central nervous system embryonal carcinoma) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17997317"^^xsd:string) "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5790"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5790"^^xsd:string) "Embryonal carcinoma of the adult central nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7233"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system embryonal carcinoma"^^xsd:string) SubClassOf( ) # Class: (mucinous cystadenocarcinoma of pancreas) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK448105/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/"^^xsd:string) "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5713"^^xsd:string) AnnotationAssertion( "pancreatic colloid cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "pancreatic mucinous cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7234"^^xsd:string) AnnotationAssertion(rdfs:label "mucinous cystadenocarcinoma of pancreas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic mucinous cystadenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41247"^^xsd:string) AnnotationAssertion( "RDO:9004096"^^xsd:string) AnnotationAssertion( "pancreatic mucinous cystic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7235"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic mucinous cystadenoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic invasive mucinous cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41246"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7236"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic invasive mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (pancreatic non-invasive mucinous cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41245"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7237"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic non-invasive mucinous cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (female stress incontinence) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:625.6"^^xsd:string) AnnotationAssertion( "NCI:C35042"^^xsd:string) AnnotationAssertion( "RDO:9003074"^^xsd:string) AnnotationAssertion( "female urinary stress incontinence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:724"^^xsd:string) AnnotationAssertion(rdfs:label "female stress incontinence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus apoplectic leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html"^^xsd:string) "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40165"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7241"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus apoplectic leiomyoma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus cellular leiomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25490906"^^xsd:string) "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40163"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7242"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus cellular leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder urachal urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39844"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7244"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urachal urothelial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphoepithelioma-like acinar prostate adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39885"^^xsd:string) AnnotationAssertion( "Acinar Prostate Adenocarcinoma, Lymphoepithelioma-Like Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7246"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoepithelioma-like acinar prostate adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (selective IgD deficiency disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144"^^xsd:string) "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27144"^^xsd:string) AnnotationAssertion( "selective IgD immunodeficiency"^^xsd:string) AnnotationAssertion( "selective immunoglobulin D deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7263"^^xsd:string) AnnotationAssertion(rdfs:label "selective IgD deficiency disease"^^xsd:string) SubClassOf( ) # Class: (familiar fallopian tube carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40455"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7266"^^xsd:string) AnnotationAssertion(rdfs:label "familiar fallopian tube carcinoma"^^xsd:string) SubClassOf( ) # Class: (lung clear cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7267"^^xsd:string) AnnotationAssertion(rdfs:label "lung clear cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (cribriform variant testicular seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40957"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7269"^^xsd:string) AnnotationAssertion(rdfs:label "cribriform variant testicular seminoma"^^xsd:string) SubClassOf( ) # Class: (premenstrual tension) AnnotationAssertion(Annotation( "MESH:D011293"^^xsd:string) "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses."^^xsd:string) AnnotationAssertion( "ICD10CM:N94.3"^^xsd:string) AnnotationAssertion( "ICD9CM:625.4"^^xsd:string) AnnotationAssertion( "MESH:D011293"^^xsd:string) AnnotationAssertion( "Premenstrual Syndrome"^^xsd:string) AnnotationAssertion( "Premenstrual Syndromes"^^xsd:string) AnnotationAssertion( "Premenstrual Tensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:727"^^xsd:string) AnnotationAssertion(rdfs:label "premenstrual tension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nodular episcleritis) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Episcleritis"^^xsd:string) "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H15.12"^^xsd:string) AnnotationAssertion( "ICD9CM:379.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:728"^^xsd:string) AnnotationAssertion(rdfs:label "nodular episcleritis"^^xsd:string) SubClassOf( ) # Class: (congenital epulis) AnnotationAssertion( "NCI:C4675"^^xsd:string) AnnotationAssertion( "congenital epulides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7280"^^xsd:string) AnnotationAssertion(rdfs:label "congenital epulis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus adenocarcinofibroma) AnnotationAssertion(Annotation( "http://www.cancernetwork.com/cancer-management/uterine-corpus-tumors"^^xsd:string) "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7281"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus adenocarcinofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skene gland carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39863"^^xsd:string) AnnotationAssertion( "NCI:C7371"^^xsd:string) AnnotationAssertion( "carcinoma of the Paraurethral gland"^^xsd:string) AnnotationAssertion( "paraurethral gland carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7284"^^xsd:string) AnnotationAssertion(rdfs:label "Skene gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endometrial endometrioid adenocarcinoma, secretory variant) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterussecretory.html"^^xsd:string) "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27839"^^xsd:string) AnnotationAssertion( "secretory uterine corpus endometrioid adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7289"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial endometrioid adenocarcinoma, secretory variant"^^xsd:string) SubClassOf( ) # Class: (mucin-rich endometrial endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/28421274/"^^xsd:string) "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8717"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7293"^^xsd:string) AnnotationAssertion(rdfs:label "mucin-rich endometrial endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood extraosseous osteosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/18214458/"^^xsd:string) "An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27376"^^xsd:string) AnnotationAssertion( "Childhood Extraskeletal Osteosarcoma"^^xsd:string) AnnotationAssertion( "pediatric extraskeletal osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7297"^^xsd:string) AnnotationAssertion(rdfs:label "childhood extraosseous osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (urethral benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3428"^^xsd:string) AnnotationAssertion( "RDO:9003376"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126883004"^^xsd:string) "neoplasm of urethra"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3428"^^xsd:string) "neoplasm. urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:730"^^xsd:string) AnnotationAssertion(rdfs:label "urethral benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endodermal sinus pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39927"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7302"^^xsd:string) AnnotationAssertion(rdfs:label "endodermal sinus pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (astroblastoma) AnnotationAssertion(Annotation( "https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/"^^xsd:string) "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000488"^^xsd:string) AnnotationAssertion( "GARD:10635"^^xsd:string) AnnotationAssertion( "ICDO:9430/3"^^xsd:string) AnnotationAssertion( "MESH:D018302"^^xsd:string) AnnotationAssertion( "NCI:C4324"^^xsd:string) AnnotationAssertion( "astroblastomas"^^xsd:string) AnnotationAssertion( "ependymoastrocytoma"^^xsd:string) AnnotationAssertion( "ependymoastrocytomas"^^xsd:string) AnnotationAssertion( "neuroepithelial neoplasm"^^xsd:string) AnnotationAssertion( "neuroepithelial neoplasms"^^xsd:string) AnnotationAssertion( "neuroepithelial tumor"^^xsd:string) AnnotationAssertion( "neuroepithelial tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "polar spongioblastoma"^^xsd:string) AnnotationAssertion( "DOID:7305"^^xsd:string) AnnotationAssertion(rdfs:label "astroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urinary system benign neoplasm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urinary_system"^^xsd:string) "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3431"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:731"^^xsd:string) AnnotationAssertion(rdfs:label "urinary system benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (breast adenomyoepithelial adenosis) AnnotationAssertion( "NCI:C40391"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7312"^^xsd:string) AnnotationAssertion(rdfs:label "breast adenomyoepithelial adenosis"^^xsd:string) SubClassOf( ) # Class: (Jewett-Marshall bladder cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9368"^^xsd:string) AnnotationAssertion( "stage IVB urinary bladder carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Jewett-Marshall stage D1 bladder cancer"^^xsd:string) AnnotationAssertion( "Jewett-Marshall stage D2 bladder cancer"^^xsd:string) AnnotationAssertion( "DOID:7315"^^xsd:string) AnnotationAssertion(rdfs:label "Jewett-Marshall bladder cancer"^^xsd:string) SubClassOf( ) # Class: (axonal neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27301"^^xsd:string) AnnotationAssertion( "RDO:9002728"^^xsd:string) AnnotationAssertion( "MOTOR AXONAL NEUROPATHY"^^xsd:string) AnnotationAssertion( "SENSORY AXONAL NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PERIPHERAL AXONAL NEUROPATHY"^^xsd:string) AnnotationAssertion( "DOID:7319"^^xsd:string) AnnotationAssertion(rdfs:label "axonal neuropathy"^^xsd:string) SubClassOf( ) # Class: (urethral disease) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/urethraldisorders.html"^^xsd:string) "A urinary system disease that is located_in the urethra. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009689"^^xsd:string) AnnotationAssertion( "ICD10CM:N36.9"^^xsd:string) AnnotationAssertion( "MESH:D014522"^^xsd:string) AnnotationAssertion( "NCI:C26903"^^xsd:string) AnnotationAssertion( "urethra disease"^^xsd:string) AnnotationAssertion( "urethral diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:732"^^xsd:string) AnnotationAssertion(rdfs:label "urethral disease"^^xsd:string) SubClassOf( ) # Class: (ovarian serous cystadenofibroma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma"^^xsd:string) "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7320"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian serous cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (cranial pseudosarcomatous fasciitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27248"^^xsd:string) AnnotationAssertion( "RDO:9003832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7326"^^xsd:string) AnnotationAssertion(rdfs:label "cranial pseudosarcomatous fasciitis"^^xsd:string) SubClassOf( ) # Class: (pseudosarcomatous fibromatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M72.4"^^xsd:string) AnnotationAssertion( "NCI:C3827"^^xsd:string) AnnotationAssertion( "nodular fasciitis"^^xsd:string) AnnotationAssertion( "pseudosarcomatous fasciitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7327"^^xsd:string) AnnotationAssertion(rdfs:label "pseudosarcomatous fibromatosis"^^xsd:string) SubClassOf( ) # Class: (iris spindle cell melanoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5"^^xsd:string) "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6098"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7328"^^xsd:string) AnnotationAssertion(rdfs:label "iris spindle cell melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (esophageal tuberculosis) AnnotationAssertion(Annotation( "http://www.springerlink.com/content/53763553187824h3/fulltext.pdf"^^xsd:string) "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:017.8"^^xsd:string) AnnotationAssertion( "RDO:9004489"^^xsd:string) AnnotationAssertion( "tuberculosis of esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7332"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic adenoma of urinary bladder) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7415"^^xsd:string) AnnotationAssertion( "nephrogenic adenoma of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7333"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic adenoma of urinary bladder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7413"^^xsd:string) AnnotationAssertion( "NCI:C97097"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7334"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethra cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient"^^xsd:string) "An urinary tract cancer that derives_from the tissues of the urethra. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9390"^^xsd:string) AnnotationAssertion( "ICD10CM:C68.0"^^xsd:string) AnnotationAssertion( "ICD9CM:189.3"^^xsd:string) AnnotationAssertion( "NCI:C7507"^^xsd:string) AnnotationAssertion( "NCI:C9106"^^xsd:string) AnnotationAssertion( "RDO:9002106"^^xsd:string) AnnotationAssertion( "cancer of urethra"^^xsd:string) AnnotationAssertion( "malignant tumour of urethra"^^xsd:string) AnnotationAssertion( "malignant urethral neoplasm"^^xsd:string) AnnotationAssertion( "urethra cancers"^^xsd:string) AnnotationAssertion( "urethral Ca"^^xsd:string) AnnotationAssertion( "urethral cancer"^^xsd:string) AnnotationAssertion( "urethral cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:734"^^xsd:string) AnnotationAssertion(rdfs:label "urethra cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood ovarian dysgerminoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dysgerminoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=672835"^^xsd:string) "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9060/3"^^xsd:string) AnnotationAssertion( "NCI:C6550"^^xsd:string) AnnotationAssertion( "pediatric ovarian dysgerminoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7340"^^xsd:string) AnnotationAssertion(rdfs:label "childhood ovarian dysgerminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian stromal hyperthecosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hyperthecosis"^^xsd:string) "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7347"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian stromal hyperthecosis"^^xsd:string) SubClassOf( ) # Class: (thymic dysplasia) AnnotationAssertion(Annotation( "NCI:C27802"^^xsd:string) "This is the developmental arrest and architectural distortion of the thymus that results in immunodeficiency."^^xsd:string) AnnotationAssertion( "thymus atrophy"^^xsd:string) AnnotationAssertion( "EFO:0009875"^^xsd:string) AnnotationAssertion( "NCI:C27802"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7350"^^xsd:string) AnnotationAssertion(rdfs:label "thymic dysplasia"^^xsd:string) SubClassOf( ) # Class: (rectum sarcomatoid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5556"^^xsd:string) AnnotationAssertion( "sarcomatoid carcinoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7356"^^xsd:string) AnnotationAssertion(rdfs:label "rectum sarcomatoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (male urethral cancer) AnnotationAssertion( "NCI:C39867"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:736"^^xsd:string) AnnotationAssertion(rdfs:label "male urethral cancer"^^xsd:string) SubClassOf( ) # Class: (solid pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7360"^^xsd:string) AnnotationAssertion(rdfs:label "solid pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (vulvar keratinizing squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16032717"^^xsd:string) "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40284"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7363"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar keratinizing squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (Kimura disease) AnnotationAssertion( "A chronic inflammatory disease characterized by benign enlargement of cervical LYMPH NODE and SALIVARY GLANDS with increased levels of IMMUNOGLOBULIN E. Unlike ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA it involves eosinophil infiltrates in lymph node and salivary glands and mostly found in Asian males. (MESH)"^^xsd:string) AnnotationAssertion( "EFO:1000722"^^xsd:string) AnnotationAssertion( "GARD:6835"^^xsd:string) AnnotationAssertion( "MESH:D000082242"^^xsd:string) AnnotationAssertion( "NCI:C26867"^^xsd:string) AnnotationAssertion( "Eosinophilic Granuloma of Soft Tissue"^^xsd:string) AnnotationAssertion( "Eosinophilic Hyperplastic Lymphogranuloma"^^xsd:string) AnnotationAssertion( "Eosinophilic Lymphofollicular Granuloma"^^xsd:string) AnnotationAssertion( "Eosinophilic Lymphofollicular Granulomas"^^xsd:string) AnnotationAssertion( "Eosinophilic Lymphofolliculoses"^^xsd:string) AnnotationAssertion( "Kimura's disease"^^xsd:string) AnnotationAssertion( "eosinophilic hyperplastic lymphogranulomas"^^xsd:string) AnnotationAssertion( "eosinophilic lymphofolliculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7365"^^xsd:string) AnnotationAssertion(rdfs:label "Kimura disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (superficial urinary bladder cancer) AnnotationAssertion(Annotation( "http://www.malecare.com/new_page_91.htm"^^xsd:string) "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27474"^^xsd:string) AnnotationAssertion( "superficial urinary bladder carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7371"^^xsd:string) AnnotationAssertion(rdfs:label "superficial urinary bladder cancer"^^xsd:string) SubClassOf( ) # Class: (pituitary hypoplasia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27343"^^xsd:string) AnnotationAssertion( "RDO:9004130"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7378"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary hypoplasia"^^xsd:string) SubClassOf( ) # Class: (adrenal medulla carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma"^^xsd:string) "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9276"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7379"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal medulla carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (female urethral cancer) AnnotationAssertion( "NCI:C39866"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:738"^^xsd:string) AnnotationAssertion(rdfs:label "female urethral cancer"^^xsd:string) SubClassOf( ) # Class: (squamous cell papilloma of skin) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4462"^^xsd:string) AnnotationAssertion( "parakeratotic skin papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7380"^^xsd:string) AnnotationAssertion(rdfs:label "squamous cell papilloma of skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphohistiocytoid mesothelioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27779"^^xsd:string) AnnotationAssertion( "RDO:9002754"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7381"^^xsd:string) AnnotationAssertion(rdfs:label "lymphohistiocytoid mesothelioma"^^xsd:string) SubClassOf( ) # Class: (pulmonary vein leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11107057"^^xsd:string) "A leiomyosarcoma that is located_in the pulmonary vein. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5374"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the pulmonary vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7388"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary vein leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary artery leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22214627"^^xsd:string) "A leiomyosarcoma that is located_in the pulmonary artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5373"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the pulmonary artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7389"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary artery leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (superior vena cava leiomyosarcoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/"^^xsd:string) "A leiomyosarcoma that is located_in the superior vena cava. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6745"^^xsd:string) AnnotationAssertion( "leiomyosarcoma of the superior vena cava"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7390"^^xsd:string) AnnotationAssertion(rdfs:label "superior vena cava leiomyosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral primitive neuroectodermal tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4970"^^xsd:string) AnnotationAssertion( "RDO:9004164"^^xsd:string) AnnotationAssertion( "PNET of cerebrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7398"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral primitive neuroectodermal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hematopoietic system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hematopathology"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK1741/"^^xsd:string) "A disease of anatomical entity that has_material_basis_in hematopoietic cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005803"^^xsd:string) AnnotationAssertion( "EFO:0010283"^^xsd:string) AnnotationAssertion( "ICD10CM:D75.9"^^xsd:string) AnnotationAssertion( "ICD9CM:289.9"^^xsd:string) AnnotationAssertion( "MESH:D006402"^^xsd:string) AnnotationAssertion( "NCI:C26323"^^xsd:string) AnnotationAssertion( "Blood Disease"^^xsd:string) AnnotationAssertion( "Hematological Disease"^^xsd:string) AnnotationAssertion( "blood diseases"^^xsd:string) AnnotationAssertion( "blood disorder"^^xsd:string) AnnotationAssertion( "blood dyscrasia"^^xsd:string) AnnotationAssertion( "disease of haematopoietic system"^^xsd:string) AnnotationAssertion( "disease of hematopoietic system"^^xsd:string) AnnotationAssertion( "disease of the blood and blood-forming organs"^^xsd:string) AnnotationAssertion( "haematopoietic system disease"^^xsd:string) AnnotationAssertion( "hematologic disease"^^xsd:string) AnnotationAssertion( "hematologic diseases"^^xsd:string) AnnotationAssertion( "hematological diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:74"^^xsd:string) AnnotationAssertion(rdfs:label "hematopoietic system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nijmegen breakage syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/3277755"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9042920"^^xsd:string) "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:251260"^^xsd:string) AnnotationAssertion( "GARD:3904"^^xsd:string) AnnotationAssertion( "MESH:D049932"^^xsd:string) AnnotationAssertion( "NCI:C4692"^^xsd:string) AnnotationAssertion( "ORDO:647"^^xsd:string) AnnotationAssertion( "At-V1"^^xsd:string) AnnotationAssertion( "Berlin Breakage Syndrome"^^xsd:string) AnnotationAssertion( "Immunodeficiency, Microcephaly, And Chromosomal Instability"^^xsd:string) AnnotationAssertion( "MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "NBS"^^xsd:string) AnnotationAssertion( "Seemanova syndrome"^^xsd:string) AnnotationAssertion( "Seemanova syndrome 2"^^xsd:string) AnnotationAssertion( "Seemanova syndrome II"^^xsd:string) AnnotationAssertion( "Seemanova syndrome type 2"^^xsd:string) AnnotationAssertion( "ataxia-telangiectasia variant 1"^^xsd:string) AnnotationAssertion( "ataxia-telangiectasia variant V1"^^xsd:string) AnnotationAssertion( "autosomal recessive nonsyndromal microcephaly with normal intelligence"^^xsd:string) AnnotationAssertion( "immunodeficiency-microcephaly-chromosomal instability syndrome"^^xsd:string) AnnotationAssertion( "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies"^^xsd:string) AnnotationAssertion( "microcephaly-immunodeficiency-lymphoreticuloma syndrome"^^xsd:string) AnnotationAssertion( "AT-V2"^^xsd:string) AnnotationAssertion( "ATAXIA-TELANGIECTASIA VARIANT V2"^^xsd:string) AnnotationAssertion( "BBS"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7400"^^xsd:string) AnnotationAssertion(rdfs:label "Nijmegen breakage syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colonic L-cell glucagon-like peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27447"^^xsd:string) AnnotationAssertion( "RDO:9002031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7401"^^xsd:string) AnnotationAssertion(rdfs:label "colonic L-cell glucagon-like peptide producing tumor"^^xsd:string) SubClassOf( ) # Class: (L-cell glucagon-like peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27448"^^xsd:string) AnnotationAssertion( "RDO:9004101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7402"^^xsd:string) AnnotationAssertion(rdfs:label "L-cell glucagon-like peptide producing tumor"^^xsd:string) SubClassOf( ) # Class: (vulvar keratoacanthoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24719870"^^xsd:string) "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C128167"^^xsd:string) AnnotationAssertion( "vulvar keratoacanthoma-like carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7408"^^xsd:string) AnnotationAssertion(rdfs:comment "DO: NCI retired concept, vulvar keratoacanthoma-like carcinoma."^^xsd:string) AnnotationAssertion(rdfs:label "vulvar keratoacanthoma"^^xsd:string) SubClassOf( ) # Class: (vulvar non-keratinizing squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/"^^xsd:string) "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7409"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar non-keratinizing squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (ovarian endometrioid cystadenofibroma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/514560"^^xsd:string) "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27288"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7411"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian endometrioid cystadenofibroma"^^xsd:string) SubClassOf( ) # Class: (cutaneous anthrax) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anthrax#Skin"^^xsd:string) "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8158"^^xsd:string) AnnotationAssertion( "ICD10CM:A22.0"^^xsd:string) AnnotationAssertion( "ICD9CM:022.0"^^xsd:string) AnnotationAssertion( "MESH:C531621"^^xsd:string) AnnotationAssertion( "anthrax, skin type"^^xsd:string) AnnotationAssertion( "skin anthrax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7426"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous anthrax"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (anthrax disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Anthrax"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/001325.htm"^^xsd:string) Annotation( "https://www.cdc.gov/anthrax/basics/index.html"^^xsd:string) Annotation( "https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000778"^^xsd:string) AnnotationAssertion( "GARD:8157"^^xsd:string) AnnotationAssertion( "ICD10CM:A22"^^xsd:string) AnnotationAssertion( "ICD9CM:022"^^xsd:string) AnnotationAssertion( "MESH:D000881"^^xsd:string) AnnotationAssertion( "NCI:C84565"^^xsd:string) AnnotationAssertion( "anthrax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7427"^^xsd:string) AnnotationAssertion(rdfs:label "anthrax disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pineal region germinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7428"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region germinoma"^^xsd:string) SubClassOf( ) # Class: (childhood brain germinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Germinoma"^^xsd:string) "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6207"^^xsd:string) AnnotationAssertion( "germinoma of the pediatric brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7429"^^xsd:string) AnnotationAssertion(rdfs:label "childhood brain germinoma"^^xsd:string) SubClassOf( ) # Class: (dermatographia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatographic_urticaria"^^xsd:string) Annotation( "http://www.dermnetnz.org/reactions/urticaria.html"^^xsd:string) "A physical urticaria induced by stroking of the skin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:125635"^^xsd:string) AnnotationAssertion( "EFO:1000685"^^xsd:string) AnnotationAssertion( "ICD10CM:L50.3"^^xsd:string) AnnotationAssertion( "ICD9CM:708.3"^^xsd:string) AnnotationAssertion( "MESH:C536612"^^xsd:string) AnnotationAssertion( "NCI:C111885"^^xsd:string) AnnotationAssertion( "DDU"^^xsd:string) AnnotationAssertion( "dermatographic urticaria"^^xsd:string) AnnotationAssertion( "dermo-distortive urticaria"^^xsd:string) AnnotationAssertion( "dermodistortive urticaria"^^xsd:string) AnnotationAssertion( "dermographism"^^xsd:string) AnnotationAssertion( "familial dermatographism"^^xsd:string) AnnotationAssertion( "familial dermographism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:743"^^xsd:string) AnnotationAssertion(rdfs:label "dermatographia"^^xsd:string) SubClassOf( ) # Class: (childhood germ cell brain tumor) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string) "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5795"^^xsd:string) AnnotationAssertion( "childhood germ cell brain tumour"^^xsd:string) AnnotationAssertion( "germ cell neoplasm of the paediatric brain"^^xsd:string) AnnotationAssertion( "germ cell neoplasm of the pediatric brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7430"^^xsd:string) AnnotationAssertion(rdfs:label "childhood germ cell brain tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyvesicular vitelline pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39930"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7435"^^xsd:string) AnnotationAssertion(rdfs:label "polyvesicular vitelline pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid uterine corpus endometrioid adenocarcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma"^^xsd:string) "An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27850"^^xsd:string) AnnotationAssertion( "RDO:9002087"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7436"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid uterine corpus endometrioid adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (uterus perivascular epithelioid cell tumor) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusPEComa.html"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24698426"^^xsd:string) "A perivascular epithelioid cell tumor that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40180"^^xsd:string) AnnotationAssertion( "uterine corpus PEComa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7437"^^xsd:string) AnnotationAssertion(rdfs:label "uterus perivascular epithelioid cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ovarian clear cell cystadenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22747504"^^xsd:string) "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7980"^^xsd:string) AnnotationAssertion( "RDO:9002510"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7438"^^xsd:string) AnnotationAssertion(rdfs:label "ovarian clear cell cystadenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (polyp of middle ear) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H74.4"^^xsd:string) AnnotationAssertion( "MONDO:0004223"^^xsd:string) AnnotationAssertion( "NCI:C6933"^^xsd:string) AnnotationAssertion( "middle ear polyp"^^xsd:string) AnnotationAssertion( "polyp of the middle ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7439"^^xsd:string) AnnotationAssertion(rdfs:label "polyp of middle ear"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic metabolic polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35602"^^xsd:string) AnnotationAssertion( "RDO:9004835"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7441"^^xsd:string) AnnotationAssertion(rdfs:label "chronic metabolic polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (monoclonal gammopathy of uncertain significance) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362"^^xsd:string) "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000203"^^xsd:string) AnnotationAssertion( "EFO:1000836"^^xsd:string) AnnotationAssertion( "GARD:7034"^^xsd:string) AnnotationAssertion( "MESH:D008998"^^xsd:string) AnnotationAssertion( "NCI:C3996"^^xsd:string) AnnotationAssertion( "Benign Monoclonal Gammopathies"^^xsd:string) AnnotationAssertion( "Benign Monoclonal Gammopathy"^^xsd:string) AnnotationAssertion( "MGUS"^^xsd:string) AnnotationAssertion( "monoclonal gammopathy"^^xsd:string) AnnotationAssertion( "monoclonal gammopathy of undetermined significance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7442"^^xsd:string) AnnotationAssertion(rdfs:label "monoclonal gammopathy of uncertain significance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (epididymis adenomatoid tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19893140"^^xsd:string) "A male reproductive organ benign neoplasm that is located_in the epididymis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6382"^^xsd:string) AnnotationAssertion( "benign epididymal epithelial mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenomatoid neoplasm of the epididymis"^^xsd:string) AnnotationAssertion( "DOID:745"^^xsd:string) AnnotationAssertion(rdfs:label "epididymis adenomatoid tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (enterobiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh"^^xsd:string) "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007254"^^xsd:string) AnnotationAssertion( "ICD10CM:B80"^^xsd:string) AnnotationAssertion( "MESH:D017229"^^xsd:string) AnnotationAssertion( "Enterobiases"^^xsd:string) AnnotationAssertion( "Enterobius vermicularis Infection"^^xsd:string) AnnotationAssertion( "Enterobius vermicularis Infections"^^xsd:string) AnnotationAssertion( "oxyuris vermicularis infection"^^xsd:string) AnnotationAssertion( "threadworm infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Pinworm infection"^^xsd:string) AnnotationAssertion( "DOID:7457"^^xsd:string) AnnotationAssertion(rdfs:label "enterobiasis"^^xsd:string) SubClassOf( ) # Class: (acantholytic variant squamous cell breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/"^^xsd:string) "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001969"^^xsd:string) AnnotationAssertion( "NCI:C40359"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7459"^^xsd:string) AnnotationAssertion(rdfs:label "acantholytic variant squamous cell breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (adenomatoid tumor) AnnotationAssertion(Annotation( "MESH:D018254"^^xsd:string) "A small, circumscribed, benign tumor of the genital tract, composed of small glandlike spaces lined by flattened or cuboidal mesothelium-like cells. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "ICD10CM:D19.9"^^xsd:string) AnnotationAssertion( "ICDO:9054/0"^^xsd:string) AnnotationAssertion( "MESH:D018254"^^xsd:string) AnnotationAssertion( "NCI:C3762"^^xsd:string) AnnotationAssertion( "adenomatoid tumors"^^xsd:string) AnnotationAssertion( "adenomatoid tumour"^^xsd:string) AnnotationAssertion( "benign localised epithelial mesothelioma"^^xsd:string) AnnotationAssertion( "benign localized epithelial mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:746"^^xsd:string) AnnotationAssertion(rdfs:label "adenomatoid tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (spindle cell variant squamous cell breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25822766"^^xsd:string) "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40358"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7460"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell variant squamous cell breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (large cell keratinizing variant squamous cell breast carcinoma) AnnotationAssertion(Annotation( "https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486"^^xsd:string) "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7461"^^xsd:string) AnnotationAssertion(rdfs:label "large cell keratinizing variant squamous cell breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood pleomorphic rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8901/3"^^xsd:string) AnnotationAssertion( "NCI:C7959"^^xsd:string) AnnotationAssertion( "RDO:9003904"^^xsd:string) AnnotationAssertion( "childhood anaplastic rhabdomyosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7463"^^xsd:string) AnnotationAssertion(rdfs:label "childhood pleomorphic rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (chronic NK-cell lymphocytosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8624463"^^xsd:string) "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C39591"^^xsd:string) AnnotationAssertion( "NK-cell large granular Lymphocyte Lymphocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7465"^^xsd:string) AnnotationAssertion(rdfs:label "chronic NK-cell lymphocytosis"^^xsd:string) SubClassOf( ) # Class: (malignant pleural mesothelioma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mesothelioma"^^xsd:string) "A pleural cancer that has_material_basis_in mesothelium cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000770"^^xsd:string) AnnotationAssertion( "EFO:1000486"^^xsd:string) AnnotationAssertion( "ICD10CM:C45.0"^^xsd:string) AnnotationAssertion( "NCI:C7376"^^xsd:string) AnnotationAssertion( "malignant mesothelioma of pleura"^^xsd:string) AnnotationAssertion( "Pleural Sarcomatoid Mesothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7474"^^xsd:string) AnnotationAssertion(rdfs:label "malignant pleural mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (diverticulitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Diverticulitis"^^xsd:string) "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001460"^^xsd:string) AnnotationAssertion( "MESH:D004238"^^xsd:string) AnnotationAssertion( "NCI:C26752"^^xsd:string) AnnotationAssertion( "diverticulitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7475"^^xsd:string) AnnotationAssertion(rdfs:label "diverticulitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (duodenal somatostatinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27407"^^xsd:string) AnnotationAssertion( "duodenal delta cell somatostatin producing tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7479"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal somatostatinoma"^^xsd:string) SubClassOf( ) # Class: (large cell carcinoma with rhabdoid phenotype) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8014/3"^^xsd:string) AnnotationAssertion( "NCI:C6876"^^xsd:string) AnnotationAssertion( "large cell lung carcinoma with rhabdoid phenotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7480"^^xsd:string) AnnotationAssertion(rdfs:label "large cell carcinoma with rhabdoid phenotype"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (petrous apex meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5271"^^xsd:string) AnnotationAssertion( "RDO:9004630"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5271"^^xsd:string) "meningioma of the Petrous Ridge"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7482"^^xsd:string) AnnotationAssertion(rdfs:label "petrous apex meningioma"^^xsd:string) SubClassOf( ) # Class: (cervical keratinizing squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11688467"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/31651557"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40187"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7483"^^xsd:string) AnnotationAssertion(rdfs:label "cervical keratinizing squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (posterior urethra cancer) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer"^^xsd:string) "A female urethral cancer located_in the posterior urethra. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C7640"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7640"^^xsd:string) "Posterior urethral malignant tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7488"^^xsd:string) AnnotationAssertion(rdfs:label "posterior urethra cancer"^^xsd:string) SubClassOf( ) # Class: (Osgood-Schlatter's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm"^^xsd:string) "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M92.52"^^xsd:string) AnnotationAssertion( "NCI:C34874"^^xsd:string) AnnotationAssertion( "Osgood-Schlatter disease"^^xsd:string) AnnotationAssertion( "juvenile osteochondrosis of tibial tubercle"^^xsd:string) AnnotationAssertion( "osteochondritis of tibial tubercle"^^xsd:string) AnnotationAssertion( "osteochondrosis of proximal tibia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7489"^^xsd:string) AnnotationAssertion(rdfs:label "Osgood-Schlatter's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (active peptic ulcer disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "GI Bleeding"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:749"^^xsd:string) AnnotationAssertion(rdfs:label "active peptic ulcer disease"^^xsd:string) SubClassOf( ) # Class: (vulvar proximal-type epithelioid sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40319"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7491"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar proximal-type epithelioid sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central epithelioid sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27472"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7492"^^xsd:string) AnnotationAssertion(rdfs:label "central epithelioid sarcoma"^^xsd:string) SubClassOf( ) # Class: (brain ependymoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ependyma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string) "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3861"^^xsd:string) AnnotationAssertion( "ependymal tumor of brain"^^xsd:string) AnnotationAssertion( "ependymoma of brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7497"^^xsd:string) AnnotationAssertion(rdfs:label "brain ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphatic system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphatic_disease"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html"^^xsd:string) "An immune system disease that is located_in the lymphatic system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007352"^^xsd:string) AnnotationAssertion( "MESH:D008206"^^xsd:string) AnnotationAssertion( "disease of lympoid system"^^xsd:string) AnnotationAssertion( "disorder of lymph node and lymphatics"^^xsd:string) AnnotationAssertion( "disorder of lymphatic system"^^xsd:string) AnnotationAssertion( "disorder of lymphoid system"^^xsd:string) AnnotationAssertion( "lymphangiopathy"^^xsd:string) AnnotationAssertion( "lymphatic disease"^^xsd:string) AnnotationAssertion( "lymphatic diseases"^^xsd:string) AnnotationAssertion( "lymphatic disorder"^^xsd:string) AnnotationAssertion( "lymphatism"^^xsd:string) AnnotationAssertion( "lympoid system disease"^^xsd:string) AnnotationAssertion( "status lymphaticus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:75"^^xsd:string) AnnotationAssertion(rdfs:label "lymphatic system disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peptic ulcer disease) AnnotationAssertion(Annotation( "MESH:D010437"^^xsd:string) "Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)."^^xsd:string) AnnotationAssertion( "ICD10CM:K27"^^xsd:string) AnnotationAssertion( "ICD9CM:533"^^xsd:string) AnnotationAssertion( "MESH:D010437"^^xsd:string) AnnotationAssertion( "MONDO:0004247"^^xsd:string) AnnotationAssertion( "NCI:C3318"^^xsd:string) AnnotationAssertion( "Gastroduodenal Ulcer"^^xsd:string) AnnotationAssertion( "Marginal Ulcer"^^xsd:string) AnnotationAssertion( "Marginal Ulcers"^^xsd:string) AnnotationAssertion( "acute peptic ulcer with hemorrhage"^^xsd:string) AnnotationAssertion( "acute peptic ulcer with hemorrhage and perforation"^^xsd:string) AnnotationAssertion( "acute peptic ulcer without hemorrhage and without perforation"^^xsd:string) AnnotationAssertion( "gastroduodenal ulcers"^^xsd:string) AnnotationAssertion( "peptic ulcer"^^xsd:string) AnnotationAssertion( "peptic ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF"^^xsd:string) AnnotationAssertion( "DOID:750"^^xsd:string) AnnotationAssertion(rdfs:label "peptic ulcer disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (childhood infratentorial ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9041"^^xsd:string) AnnotationAssertion( "pediatric infratentorial ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7501"^^xsd:string) AnnotationAssertion(rdfs:label "childhood infratentorial ependymoma"^^xsd:string) SubClassOf( ) # Class: (childhood supratentorial ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008495"^^xsd:string) AnnotationAssertion( "NCI:C9043"^^xsd:string) AnnotationAssertion( "paediatric cerebral ependymoma"^^xsd:string) AnnotationAssertion( "paediatric supratentorial ependymoblastoma"^^xsd:string) AnnotationAssertion( "paediatric supratentorial ependymoma"^^xsd:string) AnnotationAssertion( "pediatric cerebral ependymoma"^^xsd:string) AnnotationAssertion( "pediatric supratentorial ependymoblastoma"^^xsd:string) AnnotationAssertion( "pediatric supratentorial ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7502"^^xsd:string) AnnotationAssertion(rdfs:label "childhood supratentorial ependymoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic bile duct papillary adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20690568"^^xsd:string) "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5849"^^xsd:string) AnnotationAssertion( "papillary adenoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7503"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct papillary adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (small intestine benign neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000538"^^xsd:string) AnnotationAssertion( "EFO:1000539"^^xsd:string) AnnotationAssertion( "NCI:C3600"^^xsd:string) AnnotationAssertion( "NCI:C4432"^^xsd:string) AnnotationAssertion( "neoplasm of small intestine"^^xsd:string) AnnotationAssertion( "small intestinal neoplasm"^^xsd:string) AnnotationAssertion( "Small Intestinal Tubular Adenoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Tubulovillous Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7505"^^xsd:string) AnnotationAssertion(rdfs:label "small intestine benign neoplasm"^^xsd:string) SubClassOf( ) # Class: (small intestinal L-cell glucagon-like peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27452"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7506"^^xsd:string) AnnotationAssertion(rdfs:label "small intestinal L-cell glucagon-like peptide producing tumor"^^xsd:string) SubClassOf( ) # Class: (breast intraductal papillomatosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23640929"^^xsd:string) "A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:1634"^^xsd:string) AnnotationAssertion( "NCI:C5201"^^xsd:string) AnnotationAssertion( "breast papillomatosis"^^xsd:string) AnnotationAssertion( "intraductal papillomatosis of the breast"^^xsd:string) AnnotationAssertion( "papillomatosis of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7511"^^xsd:string) AnnotationAssertion(rdfs:label "breast intraductal papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wolffian adnexal neoplasm) AnnotationAssertion( "MESH:C536741"^^xsd:string) AnnotationAssertion( "NCI:C40141"^^xsd:string) AnnotationAssertion( "Female adnexal tumor of probable Wolffian origin"^^xsd:string) AnnotationAssertion( "Wolffian adenoma"^^xsd:string) AnnotationAssertion( "Wolffian adnexal tumor"^^xsd:string) AnnotationAssertion( "Wolffian tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7514"^^xsd:string) AnnotationAssertion(rdfs:label "Wolffian adnexal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lumbar spinal canal and spinal cord meningioma) AnnotationAssertion( "NCI:C5298"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5298"^^xsd:string) "meningioma of Lumbar Spinal canal and Spinal Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7515"^^xsd:string) AnnotationAssertion(rdfs:label "lumbar spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) # Class: (childhood central nervous system mixed germ cell tumor) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string) "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9085/3"^^xsd:string) AnnotationAssertion( "NCI:C27403"^^xsd:string) AnnotationAssertion( "RDO:9003460"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7516"^^xsd:string) AnnotationAssertion(rdfs:label "childhood central nervous system mixed germ cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (inhibited female orgasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F52.31"^^xsd:string) AnnotationAssertion( "ICD9CM:302.73"^^xsd:string) AnnotationAssertion( "NCI:C34958"^^xsd:string) AnnotationAssertion( "female orgasmic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7518"^^xsd:string) AnnotationAssertion(rdfs:label "inhibited female orgasm"^^xsd:string) SubClassOf( ) # Class: (endocervical carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2067992"^^xsd:string) "A cervix carcinoma that is located_in the endocervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "carcinoma of endocervix"^^xsd:string) AnnotationAssertion( "carcinoma of the endocervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7519"^^xsd:string) AnnotationAssertion(rdfs:label "endocervical carcinoma"^^xsd:string) SubClassOf( ) # Class: (peptic ulcer perforation) AnnotationAssertion(Annotation( "MESH:D010439"^^xsd:string) "Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY."^^xsd:string) AnnotationAssertion( "EFO:1001389"^^xsd:string) AnnotationAssertion( "MESH:D010439"^^xsd:string) AnnotationAssertion( "MONDO:0004260"^^xsd:string) AnnotationAssertion( "acute peptic ulcer with perforation"^^xsd:string) AnnotationAssertion( "peptic ulcer perforations"^^xsd:string) AnnotationAssertion( "peptic ulcer with perforation"^^xsd:string) AnnotationAssertion( "perforated peptic ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:752"^^xsd:string) AnnotationAssertion(rdfs:label "peptic ulcer perforation"^^xsd:string) SubClassOf( ) # Class: (periductal breast myoepitheliosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23533258"^^xsd:string) "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40388"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7520"^^xsd:string) AnnotationAssertion(rdfs:label "periductal breast myoepitheliosis"^^xsd:string) SubClassOf( ) # Class: (breast myoepitheliosis) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1709559"^^xsd:string) "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40385"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7521"^^xsd:string) AnnotationAssertion(rdfs:label "breast myoepitheliosis"^^xsd:string) SubClassOf( ) # Class: (childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773"^^xsd:string) "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6773"^^xsd:string) AnnotationAssertion( "childhood infratentorial ependymoblastoma"^^xsd:string) AnnotationAssertion( "pediatric infratentorial ependymoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7522"^^xsd:string) AnnotationAssertion(rdfs:label "childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute gonococcal endometritis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Endometritis"^^xsd:string) "An acute endometritis that is caused by gonorrhea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:098.16"^^xsd:string) AnnotationAssertion( "acute gonorrhea of uterus"^^xsd:string) AnnotationAssertion( "gonococcal endometritis"^^xsd:string) AnnotationAssertion( "uterus - acute gonorrhoea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7527"^^xsd:string) AnnotationAssertion(rdfs:label "acute gonococcal endometritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute endometritis) AnnotationAssertion(Annotation( "https://librepathology.org/wiki/Endometritis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23537790"^^xsd:string) "An endometritis that is characterized by onset within the past 1 - 3 days. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27022"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7528"^^xsd:string) AnnotationAssertion(rdfs:label "acute endometritis"^^xsd:string) SubClassOf( ) # Class: (anal gland adenocarcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adenocarcinoma"^^xsd:string) "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5609"^^xsd:string) AnnotationAssertion( "RDO:9004686"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128655006"^^xsd:string) "adenocarcinoma of anal ducts"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5609"^^xsd:string) "anal glands adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "adenocarcinoma of anal gland"^^xsd:string) AnnotationAssertion( "DOID:7531"^^xsd:string) AnnotationAssertion(rdfs:label "anal gland adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (squamous papillomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8060/0"^^xsd:string) AnnotationAssertion( "NCI:C9009"^^xsd:string) AnnotationAssertion( "RDO:9004103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7532"^^xsd:string) AnnotationAssertion(rdfs:label "squamous papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subareolar duct papillomatosis) AnnotationAssertion( "NCI:C9008"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7533"^^xsd:string) AnnotationAssertion(rdfs:label "subareolar duct papillomatosis"^^xsd:string) SubClassOf( ) # Class: (breast cystic hypersecretory carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/"^^xsd:string) "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium. (DO)"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6869"^^xsd:string) "cystic hypersecretory duct carcinoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cystic hypersecretory carcinoma of the breast"^^xsd:string) AnnotationAssertion( "DOID:7537"^^xsd:string) AnnotationAssertion(rdfs:label "breast cystic hypersecretory carcinoma"^^xsd:string) SubClassOf( ) # Class: (breast ductal adenoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25862065"^^xsd:string) "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40384"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7538"^^xsd:string) AnnotationAssertion(rdfs:label "breast ductal adenoma"^^xsd:string) SubClassOf( ) # Class: (pregnancy adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25835417"^^xsd:string) "A breast adenoma that occurs during pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9473"^^xsd:string) AnnotationAssertion( "lactating adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7539"^^xsd:string) AnnotationAssertion(rdfs:label "pregnancy adenoma"^^xsd:string) SubClassOf( ) # Class: (bladder tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.12"^^xsd:string) AnnotationAssertion( "ICD9CM:016.1"^^xsd:string) AnnotationAssertion( "tuberculosis of bladder"^^xsd:string) AnnotationAssertion( "tuberculous cystitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:754"^^xsd:string) AnnotationAssertion(rdfs:label "bladder tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast apocrine adenoma) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17936522"^^xsd:string) "A breast adenoma that is characterized by apocine differentiation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40383"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7540"^^xsd:string) AnnotationAssertion(rdfs:label "breast apocrine adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed epithelial/mesenchymal metaplastic breast carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/"^^xsd:string) "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40364"^^xsd:string) AnnotationAssertion( "RDO:9001812"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7541"^^xsd:string) AnnotationAssertion(rdfs:label "mixed epithelial/mesenchymal metaplastic breast carcinoma"^^xsd:string) SubClassOf( ) # Class: (osteosarcoma arising in bone Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6469"^^xsd:string) AnnotationAssertion( "osteosarcoma arising in bone Paget disease"^^xsd:string) AnnotationAssertion( "osteosarcoma arising in osseous Paget's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7542"^^xsd:string) AnnotationAssertion(rdfs:label "osteosarcoma arising in bone Paget's disease"^^xsd:string) SubClassOf( ) # Class: (ceruminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6088"^^xsd:string) AnnotationAssertion( "ceruminous adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7549"^^xsd:string) AnnotationAssertion(rdfs:label "ceruminoma"^^xsd:string) SubClassOf( ) # Class: (gonorrhea) AnnotationAssertion(Annotation( "http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm"^^xsd:string) "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A54"^^xsd:string) AnnotationAssertion( "ICD9CM:098"^^xsd:string) AnnotationAssertion( "MESH:D006069"^^xsd:string) AnnotationAssertion( "NCI:C35730"^^xsd:string) AnnotationAssertion( "NCI:C92950"^^xsd:string) AnnotationAssertion( "chronic gonococcal infectious disease of lower genitourinary tract"^^xsd:string) AnnotationAssertion( "chronic gonococcal infectious disease of upper genitourinary tract"^^xsd:string) AnnotationAssertion( "gonorrheas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7551"^^xsd:string) AnnotationAssertion(rdfs:label "gonorrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (infiltrating bladder urothelial carcinoma sarcomatoid variant) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000303"^^xsd:string) AnnotationAssertion( "NCI:C39824"^^xsd:string) AnnotationAssertion( "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements"^^xsd:string) AnnotationAssertion( "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7553"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating bladder urothelial carcinoma sarcomatoid variant"^^xsd:string) SubClassOf( ) # Class: (glossopharyngeal motor neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27212"^^xsd:string) AnnotationAssertion( "glossopharyngeal motor neuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7558"^^xsd:string) AnnotationAssertion(rdfs:label "glossopharyngeal motor neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (asymmetric motor neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27953"^^xsd:string) AnnotationAssertion( "RDO:9003097"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7559"^^xsd:string) AnnotationAssertion(rdfs:label "asymmetric motor neuropathy"^^xsd:string) SubClassOf( ) # Class: (vulvar eccrine porocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/"^^xsd:string) "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40306"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7565"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar eccrine porocarcinoma"^^xsd:string) SubClassOf( ) # Class: (eccrine porocarcinoma) AnnotationAssertion(Annotation( "MESH:D057090"^^xsd:string) "A rare malignant neoplasm of the sweat glands. It most often develops as a form of degenerative progression from a benign ECCRINE POROMA."^^xsd:string) AnnotationAssertion( "RDO:0007777"^^xsd:string) AnnotationAssertion( "EFO:1000229"^^xsd:string) AnnotationAssertion( "GARD:7431"^^xsd:string) AnnotationAssertion( "MESH:D057090"^^xsd:string) AnnotationAssertion( "NCI:C5560"^^xsd:string) AnnotationAssertion( "Eccrine Porocarcinomas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254708001"^^xsd:string) "Eccrine porocarcinoma of skin"^^xsd:string) AnnotationAssertion( "Malignant Eccrine Poroma"^^xsd:string) AnnotationAssertion( "Malignant Eccrine Poromas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128685001"^^xsd:string) "Porocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7566"^^xsd:string) AnnotationAssertion(rdfs:label "eccrine porocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vulvar clear cell hidradenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/8428700/"^^xsd:string) "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40307"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7567"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar clear cell hidradenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (malignant cystic nephroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8959/3"^^xsd:string) AnnotationAssertion( "malignant multilocular cystic nephroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7571"^^xsd:string) AnnotationAssertion(rdfs:label "malignant cystic nephroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic intraductal papillary-colloid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004285"^^xsd:string) AnnotationAssertion( "NCI:C5725"^^xsd:string) AnnotationAssertion( "ORDO:424058"^^xsd:string) AnnotationAssertion( "intraductal papillary-mucinous carcinoma of pancreas"^^xsd:string) AnnotationAssertion( "pancreatic intraductal papillary-mucinous carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7574"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic intraductal papillary-colloid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic intraductal papillary-mucinous neoplasm) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342"^^xsd:string) "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "pancreatic intraductal neoplasms"^^xsd:string) AnnotationAssertion( "NCI:C38342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7575"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic intraductal papillary-mucinous neoplasm"^^xsd:string) SubClassOf( ) # Class: (pancreatic foamy gland adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37256"^^xsd:string) AnnotationAssertion( "RDO:9002960"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7577"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic foamy gland adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (breast scirrhous carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/"^^xsd:string) "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7362"^^xsd:string) AnnotationAssertion( "infiltrating carcinoma of breast with fibrotic stroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "scirrhous carcinoma of breast"^^xsd:string) AnnotationAssertion( "DOID:7578"^^xsd:string) AnnotationAssertion(rdfs:label "breast scirrhous carcinoma"^^xsd:string) SubClassOf( ) # Class: (situs inversus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Situs_inversus"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/4883/situs-inversus"^^xsd:string) "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. (DO)"^^xsd:string) AnnotationAssertion( "GARD:4883"^^xsd:string) AnnotationAssertion( "ICD10CM:Q89.3"^^xsd:string) AnnotationAssertion( "ICD9CM:759.3"^^xsd:string) AnnotationAssertion( "MESH:D012857"^^xsd:string) AnnotationAssertion( "NCI:C87121"^^xsd:string) AnnotationAssertion( "complete transposition"^^xsd:string) AnnotationAssertion( "laterality sequence"^^xsd:string) AnnotationAssertion( "situs inversus totalis"^^xsd:string) AnnotationAssertion( "situs inversus viscerum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:758"^^xsd:string) AnnotationAssertion(rdfs:label "situs inversus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glottis verrucous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8189"^^xsd:string) AnnotationAssertion( "glottic verrucous carcinoma"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of glottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7583"^^xsd:string) AnnotationAssertion(rdfs:label "glottis verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subglottis verrucous carcinoma) AnnotationAssertion( "NCI:C8190"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of subglottis"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of the subglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7584"^^xsd:string) AnnotationAssertion(rdfs:label "subglottis verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (subglottis squamous cell carcinoma) AnnotationAssertion( "Epidermoid carcinoma of the Subglottis."^^xsd:string) AnnotationAssertion( "NCI:C8187"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the subglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7585"^^xsd:string) AnnotationAssertion(rdfs:label "subglottis squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (supraglottis verrucous carcinoma) AnnotationAssertion( "NCI:C8191"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8191"^^xsd:string) "verrucous carcinoma of Supraglottis"^^xsd:string) AnnotationAssertion( "verrucous carcinoma of the supraglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7586"^^xsd:string) AnnotationAssertion(rdfs:label "supraglottis verrucous carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (supraglottis squamous cell carcinoma) AnnotationAssertion( "NCI:C4945"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4945"^^xsd:string) "Epidermoid carcinoma of the Supraglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7587"^^xsd:string) AnnotationAssertion(rdfs:label "supraglottis squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gestational ovarian choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/"^^xsd:string) "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40442"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7591"^^xsd:string) AnnotationAssertion(rdfs:label "gestational ovarian choriocarcinoma"^^xsd:string) SubClassOf( ) # Class: (asbestos-related lung carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27925"^^xsd:string) AnnotationAssertion( "RDO:9002009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7596"^^xsd:string) AnnotationAssertion(rdfs:label "asbestos-related lung carcinoma"^^xsd:string) SubClassOf( ) # Class: (cervical lymphoepithelioma-like carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28217683"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7598"^^xsd:string) AnnotationAssertion(rdfs:label "cervical lymphoepithelioma-like carcinoma"^^xsd:string) SubClassOf( ) # Class: (lymphoepithelioma-like thymic carcinoma) AnnotationAssertion( "NCI:C7998"^^xsd:string) AnnotationAssertion( "lymphoepithelioma-like carcinoma of the thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7599"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoepithelioma-like thymic carcinoma"^^xsd:string) SubClassOf( ) # Class: (stomach disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Stomach_disease"^^xsd:string) "A gastrointestinal system disease that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009608"^^xsd:string) AnnotationAssertion( "MESH:D013272"^^xsd:string) AnnotationAssertion( "NCI:C26886"^^xsd:string) AnnotationAssertion( "Gastric Disease"^^xsd:string) AnnotationAssertion( "Gastric Diseases"^^xsd:string) AnnotationAssertion( "gastropathy"^^xsd:string) AnnotationAssertion( "stomach diseases"^^xsd:string) AnnotationAssertion( "stomach disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:76"^^xsd:string) AnnotationAssertion(rdfs:label "stomach disease"^^xsd:string) SubClassOf( ) # Class: (infiltrating bladder lymphoepithelioma-like carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000302"^^xsd:string) AnnotationAssertion( "NCI:C39821"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7600"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating bladder lymphoepithelioma-like carcinoma"^^xsd:string) SubClassOf( ) # Class: (conventional osteosarcoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/osteosarcoma"^^xsd:string) "A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. (DO)"^^xsd:string) AnnotationAssertion( "DOID:3378"^^xsd:string) AnnotationAssertion( "EFO:1000327"^^xsd:string) AnnotationAssertion( "ICDO:9195/3"^^xsd:string) AnnotationAssertion( "NCI:C35870"^^xsd:string) AnnotationAssertion( "COS"^^xsd:string) AnnotationAssertion( "conventional central osteosarcoma"^^xsd:string) AnnotationAssertion( "intracortical osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "intracortical osteosarcoma"^^xsd:string) AnnotationAssertion( "medullary osteosarcoma"^^xsd:string) AnnotationAssertion( "Low Grade Central Osteosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7602"^^xsd:string) AnnotationAssertion(rdfs:label "conventional osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (fibrosarcomatous osteosarcoma) AnnotationAssertion( "NCI:C4020"^^xsd:string) AnnotationAssertion( "fibroblastic osteosarcoma"^^xsd:string) AnnotationAssertion( "fibrosarcomatous osteogenic sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7603"^^xsd:string) AnnotationAssertion(rdfs:label "fibrosarcomatous osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (chief cell adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8321/0"^^xsd:string) AnnotationAssertion( "NCI:C4154"^^xsd:string) AnnotationAssertion( "RDO:9003924"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4154"^^xsd:string) "Chief cell adenoma of Parathyroid gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7607"^^xsd:string) AnnotationAssertion(rdfs:label "chief cell adenoma"^^xsd:string) SubClassOf( ) # Class: (parathyroid adenoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Parathyroid_adenoma"^^xsd:string) "A parathyroid gland benign neoplam that is located_in the parathyroid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001087"^^xsd:string) AnnotationAssertion( "NCI:C156757"^^xsd:string) AnnotationAssertion( "adenoma of parathyroid"^^xsd:string) AnnotationAssertion( "adenoma of the parathyroid gland"^^xsd:string) AnnotationAssertion( "parathyroid adenomas"^^xsd:string) AnnotationAssertion( "parathyroid adenoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7608"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parathyroid transitional clear cell adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7993"^^xsd:string) AnnotationAssertion( "RDO:9003926"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7993"^^xsd:string) "Clear cell adenoma of the Parathyroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7609"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid transitional clear cell adenoma"^^xsd:string) SubClassOf( ) # Class: (mixed cell type adenoma of parathyroid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7994"^^xsd:string) AnnotationAssertion( "RDO:9003927"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C7994"^^xsd:string) "mixed cell type adenoma of the Parathyroid gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7610"^^xsd:string) AnnotationAssertion(rdfs:label "mixed cell type adenoma of parathyroid"^^xsd:string) SubClassOf( ) # Class: (parathyroid oncocytic adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27393"^^xsd:string) AnnotationAssertion( "RDO:9003929"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7611"^^xsd:string) AnnotationAssertion(rdfs:label "parathyroid oncocytic adenoma"^^xsd:string) SubClassOf( ) # Class: (childhood intracortical osteosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9195/3"^^xsd:string) AnnotationAssertion( "NCI:C6590"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7612"^^xsd:string) AnnotationAssertion(rdfs:label "childhood intracortical osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (sarcomatosis of the meninges) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4334"^^xsd:string) AnnotationAssertion( "meningeal sarcomatosis"^^xsd:string) AnnotationAssertion( "sarcomatosis of meninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7613"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatosis of the meninges"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (meninges sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4073"^^xsd:string) AnnotationAssertion( "meningeal sarcoma"^^xsd:string) AnnotationAssertion( "sarcoma of meninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7614"^^xsd:string) AnnotationAssertion(rdfs:label "meninges sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcomatosis) AnnotationAssertion(Annotation( "https://www.merriam-webster.com/dictionary/sarcomatosis"^^xsd:string) "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8800/9"^^xsd:string) AnnotationAssertion( "NCI:C4243"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7615"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatosis"^^xsd:string) SubClassOf( ) # Class: (adult embryonal tumor with multilayered rosettes, C19MC-altered) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/"^^xsd:string) "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8290"^^xsd:string) AnnotationAssertion( "adult ependymoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7631"^^xsd:string) AnnotationAssertion(rdfs:label "adult embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string) SubClassOf( ) # Class: (Cowper gland carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cowper_gland"^^xsd:string) "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7632"^^xsd:string) AnnotationAssertion(rdfs:label "Cowper gland carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (macular holes) AnnotationAssertion( "EFO:1001028"^^xsd:string) AnnotationAssertion( "NCI:C34795"^^xsd:string) AnnotationAssertion( "macular hole"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7633"^^xsd:string) AnnotationAssertion(rdfs:label "macular holes"^^xsd:string) SubClassOf( ) # Class: (suprasellar meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7634"^^xsd:string) AnnotationAssertion(rdfs:label "suprasellar meningioma"^^xsd:string) SubClassOf( ) # Class: (Gasserian ganglion meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6779"^^xsd:string) AnnotationAssertion( "meningioma of Gasserian ganglion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7635"^^xsd:string) AnnotationAssertion(rdfs:label "Gasserian ganglion meningioma"^^xsd:string) SubClassOf( ) # Class: (malignant granular cell skin tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5614"^^xsd:string) AnnotationAssertion( "RDO:9002985"^^xsd:string) AnnotationAssertion( "malignant granular cell skin neoplasm"^^xsd:string) AnnotationAssertion( "malignant granular cell skin tumour"^^xsd:string) AnnotationAssertion( "malignant granular cell tumor of skin"^^xsd:string) AnnotationAssertion( "malignant granular cell tumour of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7639"^^xsd:string) AnnotationAssertion(rdfs:label "malignant granular cell skin tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholangiolocellular carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41617"^^xsd:string) AnnotationAssertion( "RDO:9002874"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7642"^^xsd:string) AnnotationAssertion(rdfs:label "cholangiolocellular carcinoma"^^xsd:string) SubClassOf( ) # Class: (acantholytic squamous cell skin carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4460"^^xsd:string) AnnotationAssertion( "acantholytic squamous cell carcinoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7643"^^xsd:string) AnnotationAssertion(rdfs:label "acantholytic squamous cell skin carcinoma"^^xsd:string) SubClassOf( ) # Class: (multiple spinal canal and spinal cord meningioma) AnnotationAssertion( "NCI:C5275"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5275"^^xsd:string) "Multiple meningiomas of the Spinal canal and Spinal Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7646"^^xsd:string) AnnotationAssertion(rdfs:label "multiple spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) # Class: (pulmonary type ovarian small cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23896708"^^xsd:string) "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40440"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7650"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary type ovarian small cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (small-cell carcinoma of the ovary of hypercalcemic type) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/"^^xsd:string) "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40439"^^xsd:string) AnnotationAssertion( "hypercalcemic type ovarian small cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7651"^^xsd:string) AnnotationAssertion(rdfs:label "small-cell carcinoma of the ovary of hypercalcemic type"^^xsd:string) SubClassOf( ) # Class: (adult infiltrating astrocytic neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8289"^^xsd:string) AnnotationAssertion( "adult infiltrating astrocytic tumor"^^xsd:string) AnnotationAssertion( "adult infiltrating astrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7656"^^xsd:string) AnnotationAssertion(rdfs:label "adult infiltrating astrocytic neoplasm"^^xsd:string) SubClassOf( ) # Class: (endometrial mixed adenocarcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html"^^xsd:string) "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40153"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7664"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial mixed adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (non-gestational ovarian choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20090265"^^xsd:string) "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39991"^^xsd:string) AnnotationAssertion( "RDO:9005067"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7665"^^xsd:string) AnnotationAssertion(rdfs:label "non-gestational ovarian choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (muscular atrophy) AnnotationAssertion(Annotation( "MESH:D009133"^^xsd:string) "Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation."^^xsd:string) AnnotationAssertion( "EFO:0009851"^^xsd:string) AnnotationAssertion( "EFO:0009912"^^xsd:string) AnnotationAssertion( "MESH:D009133"^^xsd:string) AnnotationAssertion( "NCI:C94834"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:728.2"^^xsd:string) "Amyotrophia"^^xsd:string) AnnotationAssertion( "Muscle Atrophies"^^xsd:string) AnnotationAssertion( "Muscle Atrophy"^^xsd:string) AnnotationAssertion( "Muscular Atrophies"^^xsd:string) AnnotationAssertion( "Neurogenic Muscular Atrophies"^^xsd:string) AnnotationAssertion( "Neurogenic Muscular Atrophy"^^xsd:string) AnnotationAssertion( "Neurotrophic Muscular Atrophies"^^xsd:string) AnnotationAssertion( "Neurotrophic Muscular Atrophy"^^xsd:string) AnnotationAssertion( "muscle wasting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:767"^^xsd:string) AnnotationAssertion(rdfs:label "muscular atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (testicular fibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39951"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7675"^^xsd:string) AnnotationAssertion(rdfs:label "testicular fibroma"^^xsd:string) SubClassOf( ) # Class: (testicular thecoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39952"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7676"^^xsd:string) AnnotationAssertion(rdfs:label "testicular thecoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sphenoid sinus inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6841"^^xsd:string) AnnotationAssertion( "Inverted papilloma of the sphenoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7678"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoid sinus inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sphenoid sinus Schneiderian papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6838"^^xsd:string) AnnotationAssertion( "Schneiderian papilloma of the sphenoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7679"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoid sinus Schneiderian papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retinoblastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/retinoblastoma"^^xsd:string) "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. (DO)"^^xsd:string) AnnotationAssertion( "MIM:180200"^^xsd:string) AnnotationAssertion( "EFO:0002923"^^xsd:string) AnnotationAssertion( "EFO:0005717"^^xsd:string) AnnotationAssertion( "GARD:7563"^^xsd:string) AnnotationAssertion( "ICDO:9510/3"^^xsd:string) AnnotationAssertion( "MESH:D012175"^^xsd:string) AnnotationAssertion( "NCI:C42596"^^xsd:string) AnnotationAssertion( "NCI:C6956"^^xsd:string) AnnotationAssertion( "NCI:C7541"^^xsd:string) AnnotationAssertion( "ORDO:790"^^xsd:string) AnnotationAssertion( "RB"^^xsd:string) AnnotationAssertion( "RB - retinoblastoma"^^xsd:string) AnnotationAssertion( "RB1"^^xsd:string) AnnotationAssertion( "Retinal Glioblastoma"^^xsd:string) AnnotationAssertion( "Retinal Glioblastomas"^^xsd:string) AnnotationAssertion( "Retinal Glioma"^^xsd:string) AnnotationAssertion( "Retinal Gliomas"^^xsd:string) AnnotationAssertion( "Retinal Neuroblastoma"^^xsd:string) AnnotationAssertion( "Retinal Neuroblastomas"^^xsd:string) AnnotationAssertion( "eye cancer, retinoblastoma"^^xsd:string) AnnotationAssertion( "neuroblastoma of retina"^^xsd:string) AnnotationAssertion( "retinoblastomas"^^xsd:string) AnnotationAssertion( "sporadic retinoblastoma"^^xsd:string) AnnotationAssertion( "sporadic retinoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:768"^^xsd:string) AnnotationAssertion(rdfs:label "retinoblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maxillary sinus adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6240"^^xsd:string) AnnotationAssertion( "adenocarcinoma of maxillary sinus"^^xsd:string) AnnotationAssertion( "adenocarcinoma of the maxillary sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7684"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic non-invasive intraductal papillary-mucinous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7685"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic non-invasive intraductal papillary-mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (leptomeninges sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8312"^^xsd:string) AnnotationAssertion( "RDO:9004626"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:78303004"^^xsd:string) "Leptomeningeal sarcoma"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C8312"^^xsd:string) "sarcoma of Leptomeninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7689"^^xsd:string) AnnotationAssertion(rdfs:label "leptomeninges sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuroblastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/types/neuroblastoma"^^xsd:string) "An autonomic nervous system neoplasm that derives_from immature nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:256700"^^xsd:string) AnnotationAssertion( "MIM:613015"^^xsd:string) AnnotationAssertion( "MIM:613016"^^xsd:string) AnnotationAssertion( "MIM:613017"^^xsd:string) AnnotationAssertion( "MIM:616792"^^xsd:string) AnnotationAssertion( "EFO:0000621"^^xsd:string) AnnotationAssertion( "GARD:7185"^^xsd:string) AnnotationAssertion( "ICD-O:M9500/3"^^xsd:string) AnnotationAssertion( "MESH:D009447"^^xsd:string) AnnotationAssertion( "NCI:C121567"^^xsd:string) AnnotationAssertion( "NCI:C21993"^^xsd:string) AnnotationAssertion( "NCI:C3270"^^xsd:string) AnnotationAssertion( "ORDO:635"^^xsd:string) AnnotationAssertion( "neuroblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NBLST1"^^xsd:string) AnnotationAssertion( "NBLST4"^^xsd:string) AnnotationAssertion( "NBLST5"^^xsd:string) AnnotationAssertion( "NBLST6"^^xsd:string) AnnotationAssertion( "NBLST7"^^xsd:string) AnnotationAssertion( "neuroblastoma susceptibility"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:769"^^xsd:string) AnnotationAssertion(rdfs:label "neuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (abdominal aortic aneurysm) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aortic_aneurysm"^^xsd:string) "An aortic aneurysm that is located_in the abdominal aorta. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004214"^^xsd:string) AnnotationAssertion( "GARD:9181"^^xsd:string) AnnotationAssertion( "MESH:D017544"^^xsd:string) AnnotationAssertion( "MIM:PS100070"^^xsd:string) AnnotationAssertion( "NCI:C27000"^^xsd:string) AnnotationAssertion( "AAA"^^xsd:string) AnnotationAssertion( "Abdominal Aortic Aneurysms"^^xsd:string) AnnotationAssertion( "sporadic abdominal aortic aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "familial abdominal aortic aneurysm"^^xsd:string) AnnotationAssertion( "DOID:7693"^^xsd:string) AnnotationAssertion(rdfs:label "abdominal aortic aneurysm"^^xsd:string) SubClassOf( ) # Class: (bladder urachal adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39843"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7694"^^xsd:string) AnnotationAssertion(rdfs:label "bladder urachal adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung hilum cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "malignant tumor of lung hilum"^^xsd:string) AnnotationAssertion( "primary malignant neoplasm of hilus of lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7696"^^xsd:string) AnnotationAssertion(rdfs:label "lung hilum cancer"^^xsd:string) SubClassOf( ) # Class: (pancreatic ACTH hormone producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27466"^^xsd:string) AnnotationAssertion( "RDO:9004597"^^xsd:string) AnnotationAssertion( "pancreatic ACTH hormone producing tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27466"^^xsd:string) "pancreatic Adrenocorticotropic Hormone Producing tumor"^^xsd:string) AnnotationAssertion( "pancreatic Adrenocorticotropic Hormone Producing tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7697"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic ACTH hormone producing tumor"^^xsd:string) SubClassOf( ) # Class: (non-functioning pancreatic endocrine tumor) AnnotationAssertion( "MESH:C536126"^^xsd:string) AnnotationAssertion( "NCI:C45837"^^xsd:string) AnnotationAssertion( "RDO:0001571"^^xsd:string) AnnotationAssertion( "Non-functioning endocrine pancreatic tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7698"^^xsd:string) AnnotationAssertion(rdfs:label "non-functioning pancreatic endocrine tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Human_gastrointestinal_tract"^^xsd:string) "A disease of anatomical entity that is located_in the gastrointestinal tract. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9005183"^^xsd:string) AnnotationAssertion( "EFO:0000405"^^xsd:string) AnnotationAssertion( "EFO:0010282"^^xsd:string) AnnotationAssertion( "ICD10CM:K92.9"^^xsd:string) AnnotationAssertion( "ICD9CM:520-579.99"^^xsd:string) AnnotationAssertion( "MESH:D004066"^^xsd:string) AnnotationAssertion( "MESH:D005767"^^xsd:string) AnnotationAssertion( "Cholera Infantum"^^xsd:string) AnnotationAssertion( "Functional Gastrointestinal Disorder"^^xsd:string) AnnotationAssertion( "GIT disease"^^xsd:string) AnnotationAssertion( "Gastrointestinal Diseases"^^xsd:string) AnnotationAssertion( "alimentary system disease"^^xsd:string) AnnotationAssertion( "digestive system disease"^^xsd:string) AnnotationAssertion( "digestive system diseases"^^xsd:string) AnnotationAssertion( "digestive system disorder"^^xsd:string) AnnotationAssertion( "functional gastrointestinal disorders"^^xsd:string) AnnotationAssertion( "gastroenteropathy"^^xsd:string) AnnotationAssertion( "gastrointestinal disease"^^xsd:string) AnnotationAssertion( "gastrointestinal disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:77"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "gastrointestinal system disease"^^xsd:string) SubClassOf( ) # Class: (rectum signet ring adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9168"^^xsd:string) AnnotationAssertion( "RDO:9004663"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9168"^^xsd:string) "Signet Ring cell adenocarcinoma of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7707"^^xsd:string) AnnotationAssertion(rdfs:label "rectum signet ring adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perianal skin Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7476"^^xsd:string) AnnotationAssertion( "perianal skin Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7708"^^xsd:string) AnnotationAssertion(rdfs:label "perianal skin Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retinal cell cancer) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/medical/retinal_cancer.htm"^^xsd:string) "A malignant neoplasm that derives_from the retina. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7061"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:771"^^xsd:string) AnnotationAssertion(rdfs:label "retinal cell cancer"^^xsd:string) SubClassOf( ) # Class: (tuberculum sellae meningioma) AnnotationAssertion( "meningioma of the Tuberculum Sellae"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5284"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5284"^^xsd:string) "meningioma of the Tuberculum Sellae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7713"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculum sellae meningioma"^^xsd:string) SubClassOf( ) # Class: (mixed ductal-endocrine carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6879"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7716"^^xsd:string) AnnotationAssertion(rdfs:label "mixed ductal-endocrine carcinoma"^^xsd:string) SubClassOf( ) # Class: (colloid carcinoma of the pancreas) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37214"^^xsd:string) AnnotationAssertion( "RDO:9002827"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7717"^^xsd:string) AnnotationAssertion(rdfs:label "colloid carcinoma of the pancreas"^^xsd:string) SubClassOf( ) # Class: (osteoclast-like giant cell neoplasm of the pancreas) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000607"^^xsd:string) AnnotationAssertion( "RDO:9002828"^^xsd:string) AnnotationAssertion( "osteoclast-like giant cell neoplasm of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7718"^^xsd:string) AnnotationAssertion(rdfs:label "osteoclast-like giant cell neoplasm of the pancreas"^^xsd:string) SubClassOf( ) # Class: (epilepsy with generalized tonic-clonic seizures) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28276060"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28842445"^^xsd:string) "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007262"^^xsd:string) AnnotationAssertion( "MESH:D004830"^^xsd:string) AnnotationAssertion( "NCI:C3022"^^xsd:string) AnnotationAssertion( "Cryptogenic Tonic Clonic Epilepsy"^^xsd:string) AnnotationAssertion( "Epilepsy, Tonic-Clonic"^^xsd:string) AnnotationAssertion( "Familial Tonic Clonic Epilepsy"^^xsd:string) AnnotationAssertion( "Familial Tonic-Clonic Epilepsies"^^xsd:string) AnnotationAssertion( "GENERALIZED TONIC-CLONIC SEIZURES"^^xsd:string) AnnotationAssertion( "Grand Mal Convulsion"^^xsd:string) AnnotationAssertion( "Grand Mal Convulsions"^^xsd:string) AnnotationAssertion( "Grand Mal Epilepsy"^^xsd:string) AnnotationAssertion( "Grand Mal Seizure Disorder"^^xsd:string) AnnotationAssertion( "Major Epilepsies"^^xsd:string) AnnotationAssertion( "Major Epilepsy"^^xsd:string) AnnotationAssertion( "Major Motor Seizure Disorder"^^xsd:string) AnnotationAssertion( "Symptomatic Tonic Clonic Epilepsy"^^xsd:string) AnnotationAssertion( "Symptomatic Tonic-Clonic Epilepsies"^^xsd:string) AnnotationAssertion( "Tonic Clonic Convulsion"^^xsd:string) AnnotationAssertion( "Tonic Clonic Convulsion Disorder"^^xsd:string) AnnotationAssertion( "Tonic Clonic Convulsion Syndrome"^^xsd:string) AnnotationAssertion( "Tonic Clonic Convulsions"^^xsd:string) AnnotationAssertion( "Tonic Clonic Seizure Disorder"^^xsd:string) AnnotationAssertion( "Tonic Clonic Seizure Syndrome"^^xsd:string) AnnotationAssertion( "Tonic-Clonic Convulsion Disorders"^^xsd:string) AnnotationAssertion( "Tonic-Clonic Convulsion Syndromes"^^xsd:string) AnnotationAssertion( "Tonic-Clonic Epilepsies"^^xsd:string) AnnotationAssertion( "Tonic-Clonic Seizure Disorders"^^xsd:string) AnnotationAssertion( "cryptogenic tonic-clonic epilepsies"^^xsd:string) AnnotationAssertion( "tonic-clonic epileptic seizures"^^xsd:string) AnnotationAssertion( "tonic-clonic seizure syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7725"^^xsd:string) AnnotationAssertion(rdfs:label "epilepsy with generalized tonic-clonic seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acinar cell cystadenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8551/3"^^xsd:string) AnnotationAssertion( "NCI:C5727"^^xsd:string) AnnotationAssertion( "pancreatic acinar cell cystadenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7729"^^xsd:string) AnnotationAssertion(rdfs:label "acinar cell cystadenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood malignant hemangiopericytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9150/3"^^xsd:string) AnnotationAssertion( "NCI:C8090"^^xsd:string) AnnotationAssertion( "malignant pediatric hemangiopericytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7731"^^xsd:string) AnnotationAssertion(rdfs:label "childhood malignant hemangiopericytoma"^^xsd:string) SubClassOf( ) # Class: (childhood malignant schwannoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9560/3"^^xsd:string) AnnotationAssertion( "NCI:C8094"^^xsd:string) AnnotationAssertion( "pediatric MPNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7732"^^xsd:string) AnnotationAssertion(rdfs:label "childhood malignant schwannoma"^^xsd:string) SubClassOf( ) # Class: (signet ring cell intrahepatic cholangiocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7733"^^xsd:string) AnnotationAssertion(rdfs:label "signet ring cell intrahepatic cholangiocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pancreatic colloid cystadenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5718"^^xsd:string) AnnotationAssertion( "RDO:9004097"^^xsd:string) AnnotationAssertion( "mucinous cystadenoma of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7735"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic colloid cystadenoma"^^xsd:string) SubClassOf( ) # Class: (retinal telangiectasia) AnnotationAssertion(Annotation( "MESH:D058456"^^xsd:string) "A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels."^^xsd:string) AnnotationAssertion( "MIM:300216"^^xsd:string) AnnotationAssertion( "ICD9CM:362.15"^^xsd:string) AnnotationAssertion( "MESH:D058456"^^xsd:string) AnnotationAssertion( "retinal telangiectases"^^xsd:string) AnnotationAssertion( "retinal telangiectasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7736"^^xsd:string) AnnotationAssertion(rdfs:label "retinal telangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (retina lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4365"^^xsd:string) AnnotationAssertion( "lymphoma of retina"^^xsd:string) AnnotationAssertion( "retinal lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:774"^^xsd:string) AnnotationAssertion(rdfs:label "retina lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood extraocular retinoblastoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7"^^xsd:string) "An extraocular retinoblastoma that effects children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9510/3"^^xsd:string) AnnotationAssertion( "NCI:C9048"^^xsd:string) AnnotationAssertion( "pediatric extraocular retinoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7747"^^xsd:string) AnnotationAssertion(rdfs:label "childhood extraocular retinoblastoma"^^xsd:string) SubClassOf( ) # Class: (intraocular lymphoma) AnnotationAssertion(Annotation( "MESH:D064090"^^xsd:string) "A form of malignant cancer which occurs within the eyeball."^^xsd:string) AnnotationAssertion( "MESH:D064090"^^xsd:string) AnnotationAssertion( "NCI:C9184"^^xsd:string) AnnotationAssertion( "intraocular lymphomas"^^xsd:string) AnnotationAssertion( "primary intraocular lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:775"^^xsd:string) AnnotationAssertion(rdfs:label "intraocular lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult brain ependymoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ependyma"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Ependymoma"^^xsd:string) "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C9372"^^xsd:string) AnnotationAssertion( "RDO:9002180"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7750"^^xsd:string) AnnotationAssertion(rdfs:label "adult brain ependymoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic biliary papillomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21988050/"^^xsd:string) "A biliary papillomatosis located_in an extrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7124"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7752"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic biliary papillomatosis"^^xsd:string) SubClassOf( ) # Class: (neonatal leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845"^^xsd:string) "A childhood leukemia that occurs during the neonatal period. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7756"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal leukemia"^^xsd:string) SubClassOf( ) # Class: (childhood leukemia) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html"^^xsd:string) "A leukemia that occurs in children. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9800/3"^^xsd:string) AnnotationAssertion( "NCI:C4989"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7757"^^xsd:string) AnnotationAssertion(rdfs:label "childhood leukemia"^^xsd:string) SubClassOf( ) # Class: (childhood multilocular cystic kidney neoplasm) AnnotationAssertion(Annotation( "http://radiographics.rsna.org/content/15/3/653.abstract"^^xsd:string) "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6566"^^xsd:string) AnnotationAssertion( "RDO:9005136"^^xsd:string) AnnotationAssertion( "childhood renal Wilms cancer"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6566"^^xsd:string) "pediatric Multilocular cystic renal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "benign Multilocular cystic renal tumor"^^xsd:string) AnnotationAssertion( "DOID:7762"^^xsd:string) AnnotationAssertion(rdfs:label "childhood multilocular cystic kidney neoplasm"^^xsd:string) SubClassOf( ) # Class: (carcinoma of supraglottis) AnnotationAssertion( "NCI:C5973"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5973"^^xsd:string) "Supraglottic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7763"^^xsd:string) AnnotationAssertion(rdfs:label "carcinoma of supraglottis"^^xsd:string) SubClassOf( ) # Class: (subglottis carcinoma) AnnotationAssertion( "NCI:C5972"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:372104008"^^xsd:string) "carcinoma of subglottis"^^xsd:string) AnnotationAssertion( "subglottic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7764"^^xsd:string) AnnotationAssertion(rdfs:label "subglottis carcinoma"^^xsd:string) SubClassOf( ) # Class: (Coats disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6121"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.02"^^xsd:string) AnnotationAssertion( "ICD9CM:362.12"^^xsd:string) AnnotationAssertion( "Coats' disease"^^xsd:string) AnnotationAssertion( "Coats' syndrome"^^xsd:string) AnnotationAssertion( "exudative retinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7765"^^xsd:string) AnnotationAssertion(rdfs:label "Coats disease"^^xsd:string) SubClassOf( ) # Class: (delusional disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Delusional_disorder"^^xsd:string) "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F22"^^xsd:string) AnnotationAssertion( "ICD9CM:297.1"^^xsd:string) AnnotationAssertion( "NCI:C94379"^^xsd:string) AnnotationAssertion( "delusional disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:778"^^xsd:string) AnnotationAssertion(rdfs:label "delusional disorder"^^xsd:string) SubClassOf( ) # Class: (breast osteosarcoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Osteosarcoma"^^xsd:string) "A breast sarcoma that arises from bone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5189"^^xsd:string) AnnotationAssertion( "osteogenic sarcoma of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7787"^^xsd:string) AnnotationAssertion(rdfs:label "breast osteosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult spinal cord ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27399"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7788"^^xsd:string) AnnotationAssertion(rdfs:label "adult spinal cord ependymoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (placenta disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Placenta_disease"^^xsd:string) "A uterine disease that is located_in the placenta. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007441"^^xsd:string) AnnotationAssertion( "GARD:7402"^^xsd:string) AnnotationAssertion( "ICD10CM:O43"^^xsd:string) AnnotationAssertion( "ICD9CM:646.9"^^xsd:string) AnnotationAssertion( "MESH:D010922"^^xsd:string) AnnotationAssertion( "NCI:C26857"^^xsd:string) AnnotationAssertion( "NCI:C27619"^^xsd:string) AnnotationAssertion( "NCI:C34941"^^xsd:string) AnnotationAssertion( "NCI:C35169"^^xsd:string) AnnotationAssertion( "Placenta Disorder"^^xsd:string) AnnotationAssertion( "Placental Disease"^^xsd:string) AnnotationAssertion( "placenta diseases"^^xsd:string) AnnotationAssertion( "placenta disorders"^^xsd:string) AnnotationAssertion( "placental diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:780"^^xsd:string) AnnotationAssertion(rdfs:label "placenta disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult spinal cord glioblastoma multiforme) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27183"^^xsd:string) AnnotationAssertion( "RDO:9002183"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:276829003"^^xsd:string) "Glioblastoma multiforme of spinal cord"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C27183"^^xsd:string) "adult Spinal Cord Glioblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7806"^^xsd:string) AnnotationAssertion(rdfs:label "adult spinal cord glioblastoma multiforme"^^xsd:string) SubClassOf( ) # Class: (choroid necrotic melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6865"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7807"^^xsd:string) AnnotationAssertion(rdfs:label "choroid necrotic melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (necrotic uveal melanoma) AnnotationAssertion(Annotation( "https://www.nature.com/articles/eye2016275"^^xsd:string) "An uveal melanoma characterized by the presence of tumor cell necrosis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7990"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7808"^^xsd:string) AnnotationAssertion(rdfs:label "necrotic uveal melanoma"^^xsd:string) SubClassOf( ) # Class: (mixed astrocytoma-ependymoma-oligodendroglioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8272"^^xsd:string) AnnotationAssertion( "RDO:9002184"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7817"^^xsd:string) AnnotationAssertion(rdfs:label "mixed astrocytoma-ependymoma-oligodendroglioma"^^xsd:string) SubClassOf( ) # Class: (petroclival meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5278"^^xsd:string) AnnotationAssertion( "RDO:9005047"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7818"^^xsd:string) AnnotationAssertion(rdfs:label "petroclival meningioma"^^xsd:string) SubClassOf( ) # Class: (sphenoorbital meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5285"^^xsd:string) AnnotationAssertion( "RDO:9005048"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7819"^^xsd:string) AnnotationAssertion(rdfs:label "sphenoorbital meningioma"^^xsd:string) SubClassOf( ) # Class: (renal infectious disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N15.9"^^xsd:string) AnnotationAssertion( "ICD9CM:590"^^xsd:string) AnnotationAssertion( "RDO:9003106"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:782"^^xsd:string) AnnotationAssertion(rdfs:label "renal infectious disease"^^xsd:string) SubClassOf( ) # Class: (sphenocavernous meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5313"^^xsd:string) AnnotationAssertion( "RDO:9005049"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7820"^^xsd:string) AnnotationAssertion(rdfs:label "sphenocavernous meningioma"^^xsd:string) SubClassOf( ) # Class: (spinal multifocal clear cell meningioma) AnnotationAssertion( "Multifocal Clear cell meningioma of Spine."^^xsd:string) AnnotationAssertion( "NCI:C5287"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5287"^^xsd:string) "Multifocal Clear cell meningioma of Spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7824"^^xsd:string) AnnotationAssertion(rdfs:label "spinal multifocal clear cell meningioma"^^xsd:string) SubClassOf( ) # Class: (chronic toxic polyneuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35603"^^xsd:string) AnnotationAssertion( "RDO:9004836"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7825"^^xsd:string) AnnotationAssertion(rdfs:label "chronic toxic polyneuropathy"^^xsd:string) SubClassOf( ) # Class: (adult papillary meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8293"^^xsd:string) AnnotationAssertion( "RDO:9004718"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7826"^^xsd:string) AnnotationAssertion(rdfs:label "adult papillary meningioma"^^xsd:string) SubClassOf( ) # Class: (adult extraosseous osteosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/11786582/"^^xsd:string) "An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7827"^^xsd:string) AnnotationAssertion(rdfs:label "adult extraosseous osteosarcoma"^^xsd:string) SubClassOf( ) # Class: (end stage renal disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK499861/"^^xsd:string) "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009909"^^xsd:string) AnnotationAssertion( "ICD9CM:585.6"^^xsd:string) AnnotationAssertion( "MESH:D007676"^^xsd:string) AnnotationAssertion( "ESRD"^^xsd:string) AnnotationAssertion( "STAGE 5 CHRONIC KIDNEY DISEASE"^^xsd:string) AnnotationAssertion( "chronic kidney failure"^^xsd:string) AnnotationAssertion( "end stage kidney disease"^^xsd:string) AnnotationAssertion( "end stage renal failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:783"^^xsd:string) AnnotationAssertion(rdfs:label "end stage renal disease"^^xsd:string) SubClassOf( ) # Class: (infiltrating nipple syringomatous adenoma) AnnotationAssertion(Annotation( "https://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html"^^xsd:string) "A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40363"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7839"^^xsd:string) AnnotationAssertion(rdfs:label "infiltrating nipple syringomatous adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic kidney disease) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK499861/"^^xsd:string) "A kidney failure that is characterized by the gradual loss of kidney function. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003884"^^xsd:string) AnnotationAssertion( "EFO:0021433"^^xsd:string) AnnotationAssertion( "ICD10CM:N18.9"^^xsd:string) AnnotationAssertion( "MESH:D051436"^^xsd:string) AnnotationAssertion( "NCI:C9438"^^xsd:string) AnnotationAssertion( "CKD"^^xsd:string) AnnotationAssertion( "CRF"^^xsd:string) AnnotationAssertion( "chronic kidney diseases"^^xsd:string) AnnotationAssertion( "chronic kidney insufficiencies"^^xsd:string) AnnotationAssertion( "chronic kidney insufficiency"^^xsd:string) AnnotationAssertion( "chronic renal disease"^^xsd:string) AnnotationAssertion( "chronic renal diseases"^^xsd:string) AnnotationAssertion( "chronic renal failure"^^xsd:string) AnnotationAssertion( "chronic renal failure syndrome"^^xsd:string) AnnotationAssertion( "chronic renal insufficiencies"^^xsd:string) AnnotationAssertion( "chronic renal insufficiency"^^xsd:string) AnnotationAssertion( "congenital chronic kidney disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:784"^^xsd:string) AnnotationAssertion(rdfs:label "chronic kidney disease"^^xsd:string) SubClassOf( ) # Class: (pancreatic non-functioning delta cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C28333"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7840"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic non-functioning delta cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood embryonal tumor with multilayered rosettes, C19MC-altered) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203"^^xsd:string) "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M9392/3"^^xsd:string) AnnotationAssertion( "NCI:C115203"^^xsd:string) AnnotationAssertion( "childhood cerebral ependymoblastoma"^^xsd:string) AnnotationAssertion( "pediatric cerebral ependymoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7841"^^xsd:string) AnnotationAssertion(rdfs:label "childhood embryonal tumor with multilayered rosettes, C19MC-altered"^^xsd:string) SubClassOf( ) # Class: (female breast carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Breast_cancer"^^xsd:string) "A breast carcinoma that is manifested in the female breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C2918"^^xsd:string) AnnotationAssertion( "carcinoma of female breast"^^xsd:string) AnnotationAssertion( "mammary carcinoma of female breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7843"^^xsd:string) AnnotationAssertion(rdfs:label "female breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (interdigitating dendritic cell sarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma"^^xsd:string) "A histiocytic and dendritic cell cancer that effect dendritic cells. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007329"^^xsd:string) AnnotationAssertion( "ICDO:9757/3"^^xsd:string) AnnotationAssertion( "MESH:D054739"^^xsd:string) AnnotationAssertion( "NCI:C9282"^^xsd:string) AnnotationAssertion( "interdigitating cell sarcoma"^^xsd:string) AnnotationAssertion( "interdigitating cell sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7848"^^xsd:string) AnnotationAssertion(rdfs:label "interdigitating dendritic cell sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dendritic cell sarcoma) AnnotationAssertion(Annotation( "http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/"^^xsd:string) "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "NCI:C27260"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7849"^^xsd:string) AnnotationAssertion(rdfs:label "dendritic cell sarcoma"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pancreatic intraductal papillary-mucinous adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7851"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic intraductal papillary-mucinous adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (laryngeal disease) AnnotationAssertion(Annotation( "MESH:D007818"^^xsd:string) "Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing."^^xsd:string) AnnotationAssertion( "EFO:0009673"^^xsd:string) AnnotationAssertion( "EFO:1000227"^^xsd:string) AnnotationAssertion( "ICD10CM:J38.7"^^xsd:string) AnnotationAssertion( "ICD10CM:S12.8"^^xsd:string) AnnotationAssertion( "ICD9CM:478.70"^^xsd:string) AnnotationAssertion( "MESH:D007818"^^xsd:string) AnnotationAssertion( "NCI:C26810"^^xsd:string) AnnotationAssertion( "Larynx Disease"^^xsd:string) AnnotationAssertion( "laryngeal diseases"^^xsd:string) AnnotationAssertion( "larynx diseases"^^xsd:string) AnnotationAssertion( "Dysplasia of Larynx"^^xsd:string) AnnotationAssertion( "Laryngeal Perichondritis"^^xsd:string) AnnotationAssertion( "laryngeal perichondritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:786"^^xsd:string) AnnotationAssertion(rdfs:label "laryngeal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult central nervous system germinoma) AnnotationAssertion( "NCI:C5792"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5792"^^xsd:string) "germinoma of the adult central nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7867"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system germinoma"^^xsd:string) SubClassOf( ) # Class: (maxillary sinus inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6840"^^xsd:string) AnnotationAssertion( "inverted papilloma of the maxillary sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7868"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adult xanthogranuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27514"^^xsd:string) AnnotationAssertion( "RDO:9004432"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7875"^^xsd:string) AnnotationAssertion(rdfs:label "adult xanthogranuloma"^^xsd:string) SubClassOf( ) # Class: (uterine corpus atypical polypoid adenomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23590013"^^xsd:string) "An atypical polypoid adenomyoma that is located_in the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40235"^^xsd:string) AnnotationAssertion( "RDO:9002566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7878"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus atypical polypoid adenomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (luteoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/"^^xsd:string) "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000434"^^xsd:string) AnnotationAssertion( "ICDO:8610/0"^^xsd:string) AnnotationAssertion( "MESH:D018311"^^xsd:string) AnnotationAssertion( "NCI:C40445"^^xsd:string) AnnotationAssertion( "Gestational Luteoma"^^xsd:string) AnnotationAssertion( "Luteinoma"^^xsd:string) AnnotationAssertion( "Luteoma of Pregnancy"^^xsd:string) AnnotationAssertion( "gestational luteomas"^^xsd:string) AnnotationAssertion( "leuteoma of pregnancy"^^xsd:string) AnnotationAssertion( "luteomas"^^xsd:string) AnnotationAssertion( "pregnancy luteoma"^^xsd:string) AnnotationAssertion( "pregnancy luteomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7880"^^xsd:string) AnnotationAssertion(rdfs:label "luteoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (testicular spermatocytic seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7891"^^xsd:string) AnnotationAssertion(rdfs:label "testicular spermatocytic seminoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mite infestation) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mite"^^xsd:string) "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B88.9"^^xsd:string) AnnotationAssertion( "ICD9CM:133"^^xsd:string) AnnotationAssertion( "MESH:D008924"^^xsd:string) AnnotationAssertion( "acariasis"^^xsd:string) AnnotationAssertion( "mange"^^xsd:string) AnnotationAssertion( "mite infestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7894"^^xsd:string) AnnotationAssertion(rdfs:label "mite infestation"^^xsd:string) SubClassOf( ) # Class: (ocular hypotension) AnnotationAssertion(Annotation( "MESH:D015814"^^xsd:string) "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)."^^xsd:string) AnnotationAssertion( "ICD10CM:H44.4"^^xsd:string) AnnotationAssertion( "ICD9CM:360.3"^^xsd:string) AnnotationAssertion( "MESH:D015814"^^xsd:string) AnnotationAssertion( "NCI:C172147"^^xsd:string) AnnotationAssertion( "hypotony of eye"^^xsd:string) AnnotationAssertion( "ocular hypotony"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:790"^^xsd:string) AnnotationAssertion(rdfs:label "ocular hypotension"^^xsd:string) SubClassOf( ) # Class: (adult extraskeletal myxoid chondrosarcoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35144048/"^^xsd:string) "An extraskeletal myxoid chondrosarcoma occurring in adults. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:6495"^^xsd:string) AnnotationAssertion( "NCI:C7924"^^xsd:string) AnnotationAssertion( "adult extraosseous chondrosarcoma"^^xsd:string) AnnotationAssertion( "adult myxoid chondrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7902"^^xsd:string) AnnotationAssertion(rdfs:comment "DO: adult myxoid chondrosarcoma Retired NCI concept."^^xsd:string) AnnotationAssertion(rdfs:label "adult extraskeletal myxoid chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (intracranial chondrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5462"^^xsd:string) AnnotationAssertion( "RDO:9004151"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7903"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial chondrosarcoma"^^xsd:string) SubClassOf( ) # Class: (mixed astrocytoma-ependymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8271"^^xsd:string) AnnotationAssertion( "RDO:9002185"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7907"^^xsd:string) AnnotationAssertion(rdfs:label "mixed astrocytoma-ependymoma"^^xsd:string) SubClassOf( ) # Class: (maxillary sinus squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25674251"^^xsd:string) "A squamous cell carcinoma that is located_in the maxillary sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6064"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of the maxillofacial sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7910"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus squamous cell carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed oligodendroglioma-astrocytoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0000630"^^xsd:string) AnnotationAssertion( "NCI:C129323"^^xsd:string) AnnotationAssertion( "NCI:C4050"^^xsd:string) AnnotationAssertion( "RDO:9004137"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4050"^^xsd:string) "WHO grade II mixed glioma"^^xsd:string) AnnotationAssertion( "oligoastrocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7912"^^xsd:string) AnnotationAssertion(rdfs:label "mixed oligodendroglioma-astrocytoma"^^xsd:string) SubClassOf( ) # Class: (cervical spinal canal and spinal cord meningioma) AnnotationAssertion( "NCI:C5296"^^xsd:string) AnnotationAssertion( "meningioma of the cervical Spinal canal and Spinal Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7915"^^xsd:string) AnnotationAssertion(rdfs:label "cervical spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) # Class: (mediastinal psammomatous neurilemmoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636"^^xsd:string) "A mediastinal neurilemmoma characterized by the presence of psammoma bodies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6636"^^xsd:string) AnnotationAssertion( "benign mediastinal psammomatous neurilemmoma"^^xsd:string) AnnotationAssertion( "benign psammomatous schwannoma of mediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7921"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinal psammomatous neurilemmoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (epithelial malignant thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000583"^^xsd:string) AnnotationAssertion( "NCI:C7997"^^xsd:string) AnnotationAssertion( "epithelial thymoma"^^xsd:string) AnnotationAssertion( "squamoid thymoma"^^xsd:string) AnnotationAssertion( "well differentiated thymic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7926"^^xsd:string) AnnotationAssertion(rdfs:label "epithelial malignant thymoma"^^xsd:string) SubClassOf( ) # Class: (malignant type A thymoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7999"^^xsd:string) AnnotationAssertion( "RDO:9003749"^^xsd:string) AnnotationAssertion( "Thymoma, medullary, malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7927"^^xsd:string) AnnotationAssertion(rdfs:label "malignant type A thymoma"^^xsd:string) SubClassOf( ) # Class: (testis refractory cancer) AnnotationAssertion( "NCI:C9077"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9077"^^xsd:string) "Refractory testicular carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7928"^^xsd:string) AnnotationAssertion(rdfs:label "testis refractory cancer"^^xsd:string) SubClassOf( ) # Class: (glandular-alveolar pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39926"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7930"^^xsd:string) AnnotationAssertion(rdfs:label "glandular-alveolar pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (refractory T lymphoblastic leukemia/lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8696"^^xsd:string) AnnotationAssertion( "precursor T-lymphoblastic lymphoma/leukemia refractory"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7936"^^xsd:string) AnnotationAssertion(rdfs:label "refractory T lymphoblastic leukemia/lymphoma"^^xsd:string) SubClassOf( ) # Class: (Barrett's adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001939"^^xsd:string) AnnotationAssertion( "NCI:C7027"^^xsd:string) AnnotationAssertion( "RDO:9002303"^^xsd:string) AnnotationAssertion( "Barrett adenocarcinoma"^^xsd:string) AnnotationAssertion( "adenocarcinoma Arising in Barrett's Mucosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7941"^^xsd:string) AnnotationAssertion(rdfs:label "Barrett's adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (adult central nervous system mixed germ cell tumor) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq"^^xsd:string) "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27402"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7945"^^xsd:string) AnnotationAssertion(rdfs:label "adult central nervous system mixed germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (stroma-dominant and stroma-poor composite ganglioneuroblastoma) AnnotationAssertion( "NCI:C42060"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7949"^^xsd:string) AnnotationAssertion(rdfs:label "stroma-dominant and stroma-poor composite ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma) AnnotationAssertion( "NCI:C42059"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7951"^^xsd:string) AnnotationAssertion(rdfs:label "Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma"^^xsd:string) SubClassOf( ) # Class: (nipple duct carcinoma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=45963"^^xsd:string) "A nipple carcinoma that is located_in the nipple duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27234"^^xsd:string) AnnotationAssertion( "RDO:9001815"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7953"^^xsd:string) AnnotationAssertion(rdfs:label "nipple duct carcinoma"^^xsd:string) SubClassOf( ) # Class: (sarcomatoid penile squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6984"^^xsd:string) AnnotationAssertion( "sarcomatous carcinoma of the penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7958"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatoid penile squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (duodenal gastrinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000224"^^xsd:string) AnnotationAssertion( "NCI:C5731"^^xsd:string) AnnotationAssertion( "Duodenal Gastrin-Producing Neuroendocrine Tumor"^^xsd:string) AnnotationAssertion( "duodenal G-cell gastrin producing tumor"^^xsd:string) AnnotationAssertion( "gastrinoma of duodenum"^^xsd:string) AnnotationAssertion( "malignant duodenal gastrinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7959"^^xsd:string) AnnotationAssertion(rdfs:label "duodenal gastrinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant spiradenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5117"^^xsd:string) AnnotationAssertion( "malignant eccrine spiradenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7960"^^xsd:string) AnnotationAssertion(rdfs:label "malignant spiradenoma"^^xsd:string) SubClassOf( ) # Class: (cervical non-keratinizing squamous cell carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7961"^^xsd:string) AnnotationAssertion(rdfs:label "cervical non-keratinizing squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (tamoxifen-related endometrial lesion) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/"^^xsd:string) "An endometrial disease that is caused by tamoxifen exposure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40159"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7962"^^xsd:string) AnnotationAssertion(rdfs:label "tamoxifen-related endometrial lesion"^^xsd:string) SubClassOf( ) # Class: (lipid-cell variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39828"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7967"^^xsd:string) AnnotationAssertion(rdfs:label "lipid-cell variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (plasmacytoid variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39823"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7968"^^xsd:string) AnnotationAssertion(rdfs:label "plasmacytoid variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (nested variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39819"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7969"^^xsd:string) AnnotationAssertion(rdfs:label "nested variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (microcystic variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39820"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7971"^^xsd:string) AnnotationAssertion(rdfs:label "microcystic variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (lymphoma-like variant infiltrating bladder urothelial carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39822"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7972"^^xsd:string) AnnotationAssertion(rdfs:label "lymphoma-like variant infiltrating bladder urothelial carcinoma"^^xsd:string) SubClassOf( ) # Class: (breast malignant eccrine spiradenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10770427"^^xsd:string) "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5180"^^xsd:string) AnnotationAssertion( "RDO:9001816"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5180"^^xsd:string) "malignant Eccrine Spiradenoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7983"^^xsd:string) AnnotationAssertion(rdfs:label "breast malignant eccrine spiradenoma"^^xsd:string) SubClassOf( ) # Class: (sclerosing breast papilloma) AnnotationAssertion(Annotation( "http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25650849"^^xsd:string) "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C27944"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7984"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing breast papilloma"^^xsd:string) SubClassOf( ) # Class: (cerebral falx meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5267"^^xsd:string) AnnotationAssertion( "falcine meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7986"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral falx meningioma"^^xsd:string) SubClassOf( ) # Class: (varicose veins) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/varicoseveins.html"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health/health-topics/topics/vv/"^^xsd:string) "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:192200"^^xsd:string) AnnotationAssertion( "ICD10CM:I83.90"^^xsd:string) AnnotationAssertion( "MESH:D014648"^^xsd:string) AnnotationAssertion( "NCI:C35114"^^xsd:string) AnnotationAssertion( "Varices"^^xsd:string) AnnotationAssertion( "Varicose Vein"^^xsd:string) AnnotationAssertion( "Varix"^^xsd:string) AnnotationAssertion( "venous ectasia"^^xsd:string) AnnotationAssertion( "venous varices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:799"^^xsd:string) AnnotationAssertion(rdfs:label "varicose veins"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system osteosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7994"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system osteosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (familial glomangioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5350"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7996"^^xsd:string) AnnotationAssertion(rdfs:label "familial glomangioma"^^xsd:string) SubClassOf( ) # Class: (thyrotoxicosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22394559"^^xsd:string) "A thyroid gland disease that is characterized by excess thyroid hormone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009190"^^xsd:string) AnnotationAssertion( "ICD10CM:E05.9"^^xsd:string) AnnotationAssertion( "ICD9CM:242"^^xsd:string) AnnotationAssertion( "MESH:D013971"^^xsd:string) AnnotationAssertion( "NCI:C61469"^^xsd:string) AnnotationAssertion( "thyrotoxicoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7997"^^xsd:string) AnnotationAssertion(rdfs:label "thyrotoxicosis"^^xsd:string) SubClassOf( ) # Class: (hyperthyroidism) AnnotationAssertion(Annotation( "https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism"^^xsd:string) "A thyroid gland disease that involves an over production of thyroid hormone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009189"^^xsd:string) AnnotationAssertion( "MESH:D006980"^^xsd:string) AnnotationAssertion( "NCI:C113145"^^xsd:string) AnnotationAssertion( "NCI:C3123"^^xsd:string) AnnotationAssertion( "ORDO:99819"^^xsd:string) AnnotationAssertion( "hyperthyroid"^^xsd:string) AnnotationAssertion( "hyperthyroids"^^xsd:string) AnnotationAssertion( "overactive thyroid"^^xsd:string) AnnotationAssertion( "primary hyperthyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:7998"^^xsd:string) AnnotationAssertion(rdfs:label "hyperthyroidism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (frontal convexity meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5292"^^xsd:string) AnnotationAssertion( "RDO:9004708"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8000"^^xsd:string) AnnotationAssertion(rdfs:label "frontal convexity meningioma"^^xsd:string) SubClassOf( ) # Class: (supraglottis neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6793"^^xsd:string) AnnotationAssertion( "neoplasm of supraglottis"^^xsd:string) AnnotationAssertion( "supraglottic tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8002"^^xsd:string) AnnotationAssertion(rdfs:label "supraglottis neoplasm"^^xsd:string) SubClassOf( ) # Class: (alveoli adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4140"^^xsd:string) AnnotationAssertion( "adenoma of alveoli"^^xsd:string) AnnotationAssertion( "adenoma of the alveoli"^^xsd:string) AnnotationAssertion( "alveolar adenoma"^^xsd:string) AnnotationAssertion( "alveolar adenoma (morphologic abnormality)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8003"^^xsd:string) AnnotationAssertion(rdfs:label "alveoli adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (skin meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5277"^^xsd:string) AnnotationAssertion( "primary meningioma of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8006"^^xsd:string) AnnotationAssertion(rdfs:label "skin meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancoast tumor) AnnotationAssertion( "A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand."^^xsd:string) AnnotationAssertion( "EFO:1001080"^^xsd:string) AnnotationAssertion( "MESH:D010178"^^xsd:string) AnnotationAssertion( "NCI:C27710"^^xsd:string) AnnotationAssertion( "NCI:C55815"^^xsd:string) AnnotationAssertion( "NCI:C7527"^^xsd:string) AnnotationAssertion( "Pancoast syndrome"^^xsd:string) AnnotationAssertion( "Pancoast tumour"^^xsd:string) AnnotationAssertion( "Pancoast's syndrome"^^xsd:string) AnnotationAssertion( "Pancoast's tumour"^^xsd:string) AnnotationAssertion( "Pancoasts Syndrome"^^xsd:string) AnnotationAssertion( "malignant Superior Sulcus tumour"^^xsd:string) AnnotationAssertion( "malignant superior sulcus tumor"^^xsd:string) AnnotationAssertion( "pulmonary sulcus tumor"^^xsd:string) AnnotationAssertion( "pulmonary sulcus tumour"^^xsd:string) AnnotationAssertion( "superior pulmonary sulcus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8007"^^xsd:string) AnnotationAssertion(rdfs:label "Pancoast tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (penis mixed squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39959"^^xsd:string) AnnotationAssertion( "RDO:9002249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8009"^^xsd:string) AnnotationAssertion(rdfs:label "penis mixed squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (hemarthrosis) AnnotationAssertion(Annotation( "MESH:D006395"^^xsd:string) "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia."^^xsd:string) AnnotationAssertion( "EFO:1001344"^^xsd:string) AnnotationAssertion( "ICD10CM:M25.0"^^xsd:string) AnnotationAssertion( "ICD9CM:719.1"^^xsd:string) AnnotationAssertion( "MESH:D006395"^^xsd:string) AnnotationAssertion( "Hemarthroses"^^xsd:string) AnnotationAssertion( "haemarthrosis of shoulder joint"^^xsd:string) AnnotationAssertion( "haemarthrosis of the ankle and foot"^^xsd:string) AnnotationAssertion( "haemarthrosis of the pelvic region and thigh"^^xsd:string) AnnotationAssertion( "hemarthrosis involving ankle and foot"^^xsd:string) AnnotationAssertion( "hemarthrosis involving forearm"^^xsd:string) AnnotationAssertion( "hemarthrosis involving hand"^^xsd:string) AnnotationAssertion( "hemarthrosis involving lower leg"^^xsd:string) AnnotationAssertion( "hemarthrosis involving pelvic region and thigh"^^xsd:string) AnnotationAssertion( "hemarthrosis involving shoulder region"^^xsd:string) AnnotationAssertion( "hemarthrosis involving upper arm"^^xsd:string) AnnotationAssertion( "hemarthrosis of ankle and/or foot"^^xsd:string) AnnotationAssertion( "hemarthrosis of forearm"^^xsd:string) AnnotationAssertion( "hemarthrosis of hand"^^xsd:string) AnnotationAssertion( "hemarthrosis of lower leg"^^xsd:string) AnnotationAssertion( "hemarthrosis of shoulder"^^xsd:string) AnnotationAssertion( "hemarthrosis of shoulder region"^^xsd:string) AnnotationAssertion( "hemarthrosis of the ankle and foot"^^xsd:string) AnnotationAssertion( "hemarthrosis of the ankle and/or foot"^^xsd:string) AnnotationAssertion( "hemarthrosis of the forearm"^^xsd:string) AnnotationAssertion( "hemarthrosis of the hand"^^xsd:string) AnnotationAssertion( "hemarthrosis of the lower leg"^^xsd:string) AnnotationAssertion( "hemarthrosis of the pelvic region and thigh"^^xsd:string) AnnotationAssertion( "hemarthrosis of the shoulder region"^^xsd:string) AnnotationAssertion( "hemarthrosis of the upper arm"^^xsd:string) AnnotationAssertion( "hemarthrosis of upper arm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:801"^^xsd:string) AnnotationAssertion(rdfs:label "hemarthrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign pericardial teratoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6744"^^xsd:string) AnnotationAssertion( "RDO:9005075"^^xsd:string) AnnotationAssertion( "mature teratoma of pericardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8012"^^xsd:string) AnnotationAssertion(rdfs:label "benign pericardial teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (penis papillary carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22367299"^^xsd:string) "A papillary carcinoma that is located_in the penis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6983"^^xsd:string) AnnotationAssertion( "squamous carcinoma of penis, papillary type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8013"^^xsd:string) AnnotationAssertion(rdfs:label "penis papillary carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glomangiomyoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8713/0"^^xsd:string) AnnotationAssertion( "NCI:C4223"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8020"^^xsd:string) AnnotationAssertion(rdfs:label "glomangiomyoma"^^xsd:string) SubClassOf( ) # Class: (liver fibrosarcoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fibrosarcoma"^^xsd:string) "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8022"^^xsd:string) AnnotationAssertion(rdfs:label "liver fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myxoid liposarcoma of the ovary) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20407326"^^xsd:string) "A myxoid liposarcoma that is located_in the ovary. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5235"^^xsd:string) AnnotationAssertion( "RDO:9004291"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5235"^^xsd:string) "Myxoid Liposarcoma of Ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8023"^^xsd:string) AnnotationAssertion(rdfs:label "myxoid liposarcoma of the ovary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastric signet ring cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000524"^^xsd:string) AnnotationAssertion( "NCI:C5250"^^xsd:string) AnnotationAssertion( "RDO:9002474"^^xsd:string) AnnotationAssertion( "Signet Ring cell adenocarcinoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8025"^^xsd:string) AnnotationAssertion(rdfs:label "gastric signet ring cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sporadic breast cancer) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer"^^xsd:string) "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8029"^^xsd:string) AnnotationAssertion(rdfs:label "sporadic breast cancer"^^xsd:string) SubClassOf( ) # Class: (periocular meningioma) AnnotationAssertion( "A meningioma that affects the periocular region. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004439"^^xsd:string) AnnotationAssertion( "NCI:C6777"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8030"^^xsd:string) AnnotationAssertion(rdfs:label "periocular meningioma"^^xsd:string) SubClassOf( ) # Class: (pineal region meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6756"^^xsd:string) AnnotationAssertion( "pineal meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8031"^^xsd:string) AnnotationAssertion(rdfs:label "pineal region meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood ovarian embryonal carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma"^^xsd:string) "An ovarian embryonal carcinoma that occurs in childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6546"^^xsd:string) AnnotationAssertion( "RDO:9004158"^^xsd:string) AnnotationAssertion( "childhood embryonal carcinoma of the ovary"^^xsd:string) AnnotationAssertion( "pediatric embryonal carcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8036"^^xsd:string) AnnotationAssertion(rdfs:label "childhood ovarian embryonal carcinoma"^^xsd:string) SubClassOf( ) # Class: (testis polyembryoma) AnnotationAssertion( "NCI:C40962"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C40962"^^xsd:string) "Polyembryoma of testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8042"^^xsd:string) AnnotationAssertion(rdfs:label "testis polyembryoma"^^xsd:string) SubClassOf( ) # Class: (chest wall parachordoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/24135242/"^^xsd:string) "A parachordoma arising from the chest wall. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6720"^^xsd:string) AnnotationAssertion( "parachordoma of the chest wall"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8043"^^xsd:string) AnnotationAssertion(rdfs:label "chest wall parachordoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bladder tubulo-cystic clear cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8050"^^xsd:string) AnnotationAssertion(rdfs:label "bladder tubulo-cystic clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (bladder papillary clear cell adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39848"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8051"^^xsd:string) AnnotationAssertion(rdfs:label "bladder papillary clear cell adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (olfactory groove meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6771"^^xsd:string) AnnotationAssertion( "meningioma of the olfactory groove"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8057"^^xsd:string) AnnotationAssertion(rdfs:label "olfactory groove meningioma"^^xsd:string) SubClassOf( ) # Class: (pituitary stalk meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5311"^^xsd:string) AnnotationAssertion( "meningioma of the pituitary stalk"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8058"^^xsd:string) AnnotationAssertion(rdfs:label "pituitary stalk meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontal sinus inverted papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6842"^^xsd:string) AnnotationAssertion( "inverted papilloma of the frontal sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8060"^^xsd:string) AnnotationAssertion(rdfs:label "frontal sinus inverted papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intraductal breast myoepitheliosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1709559"^^xsd:string) "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40387"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8068"^^xsd:string) AnnotationAssertion(rdfs:label "intraductal breast myoepitheliosis"^^xsd:string) SubClassOf( ) # Class: (carotid artery occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:433.10"^^xsd:string) AnnotationAssertion( "RDO:9002143"^^xsd:string) AnnotationAssertion( "Occlusion and stenosis of carotid artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:807"^^xsd:string) AnnotationAssertion(rdfs:label "carotid artery occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcomatous intrahepatic cholangiocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41620"^^xsd:string) AnnotationAssertion( "RDO:9002878"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8072"^^xsd:string) AnnotationAssertion(rdfs:label "sarcomatous intrahepatic cholangiocarcinoma"^^xsd:string) SubClassOf( ) # Class: (childhood central nervous system germinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8078"^^xsd:string) AnnotationAssertion(rdfs:label "childhood central nervous system germinoma"^^xsd:string) SubClassOf( ) # Class: (myxomatous pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39929"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8081"^^xsd:string) AnnotationAssertion(rdfs:label "myxomatous pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (cellular congenital mesoblastic nephroma) AnnotationAssertion( "NCI:C39815"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8082"^^xsd:string) AnnotationAssertion(rdfs:label "cellular congenital mesoblastic nephroma"^^xsd:string) SubClassOf( ) # Class: (classic congenital mesoblastic nephroma) AnnotationAssertion( "NCI:C39814"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8083"^^xsd:string) AnnotationAssertion(rdfs:label "classic congenital mesoblastic nephroma"^^xsd:string) SubClassOf( ) # Class: (cocaine abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cocaine_Abuse"^^xsd:string) "A substance abuse that involves the recurring use of cocaine despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F14.1"^^xsd:string) AnnotationAssertion( "ICD9CM:305.6"^^xsd:string) AnnotationAssertion( "cocaine use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:809"^^xsd:string) AnnotationAssertion(rdfs:label "cocaine abuse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maxillary sinus Schneiderian papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6839"^^xsd:string) AnnotationAssertion( "Schneiderian papilloma of the maxillary sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8093"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus Schneiderian papilloma"^^xsd:string) SubClassOf( ) # Class: (bladder mixed adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39839"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8096"^^xsd:string) AnnotationAssertion(rdfs:label "bladder mixed adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (bladder hepatoid adenocarcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39838"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8097"^^xsd:string) AnnotationAssertion(rdfs:label "bladder hepatoid adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fetal adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4160"^^xsd:string) AnnotationAssertion( "Microfollicular adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8102"^^xsd:string) AnnotationAssertion(rdfs:label "fetal adenoma"^^xsd:string) SubClassOf( ) # Class: (vaginal tubulovillous adenoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23202776"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25672089"^^xsd:string) "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:6809"^^xsd:string) AnnotationAssertion( "NCI:C40258"^^xsd:string) AnnotationAssertion( "vaginal tubular adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8104"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal tubulovillous adenoma"^^xsd:string) SubClassOf( ) # Class: (extrahepatic bile duct cystadenoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/25830005/"^^xsd:string) "A bile duct cystadenoma located_in an extrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5851"^^xsd:string) AnnotationAssertion( "cystadenoma of the extrahepatic bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8105"^^xsd:string) AnnotationAssertion(rdfs:label "extrahepatic bile duct cystadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cellular phase chronic idiopathic myelofibrosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41237"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8106"^^xsd:string) AnnotationAssertion(rdfs:label "cellular phase chronic idiopathic myelofibrosis"^^xsd:string) SubClassOf( ) # Class: (fibroepithelial polyp of urethra) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000700"^^xsd:string) AnnotationAssertion( "NCI:C6170"^^xsd:string) AnnotationAssertion( "RDO:9003692"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6170"^^xsd:string) "urethral Fibroepithelial polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8108"^^xsd:string) AnnotationAssertion(rdfs:label "fibroepithelial polyp of urethra"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrogenic adenoma of the urethra) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7416"^^xsd:string) AnnotationAssertion( "nephrogenic adenoma of urethra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8109"^^xsd:string) AnnotationAssertion(rdfs:label "nephrogenic adenoma of the urethra"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipodystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25690482"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25833179"^^xsd:string) "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000727"^^xsd:string) AnnotationAssertion( "ICD9CM:272.6"^^xsd:string) AnnotationAssertion( "MESH:D008060"^^xsd:string) AnnotationAssertion( "NCI:C97093"^^xsd:string) AnnotationAssertion( "lipodystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:811"^^xsd:string) AnnotationAssertion(rdfs:label "lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (periampullary adenocarcinoma) AnnotationAssertion( "Periampullary adenocarcinoma is a cancer that forms near the ampulla of Vater."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2010-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27322"^^xsd:string) AnnotationAssertion( "RDO:9000002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8110"^^xsd:string) AnnotationAssertion(rdfs:label "periampullary adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (neuronitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neuroinflammation"^^xsd:string) "A central nervous system disease that is characterized by neuron inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C34847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8117"^^xsd:string) AnnotationAssertion(rdfs:label "neuronitis"^^xsd:string) SubClassOf( ) # Class: (mature gastric teratoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22953284"^^xsd:string) "A mature teratoma that has_material_basis_in gastric tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5260"^^xsd:string) AnnotationAssertion( "mature teratoma of stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8118"^^xsd:string) AnnotationAssertion(rdfs:label "mature gastric teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anal canal Paget's disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7477"^^xsd:string) AnnotationAssertion( "Paget's disease of anal canal"^^xsd:string) AnnotationAssertion( "Paget's disease of the anal canal"^^xsd:string) AnnotationAssertion( "anal canal Paget disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8119"^^xsd:string) AnnotationAssertion(rdfs:label "anal canal Paget's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pseudovascular skin squamous cell carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27542"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8122"^^xsd:string) AnnotationAssertion(rdfs:label "pseudovascular skin squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (osteochondrosis) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/osteochondrosis"^^xsd:string) "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008575"^^xsd:string) AnnotationAssertion( "EFO:0008577"^^xsd:string) AnnotationAssertion( "ICD10CM:M92"^^xsd:string) AnnotationAssertion( "ICD10CM:M93.9"^^xsd:string) AnnotationAssertion( "ICD9CM:732.6"^^xsd:string) AnnotationAssertion( "MESH:D055034"^^xsd:string) AnnotationAssertion( "NCI:C34879"^^xsd:string) AnnotationAssertion( "Juvenile Osteochondrosis"^^xsd:string) AnnotationAssertion( "Koehler disease"^^xsd:string) AnnotationAssertion( "Koehler's Disease"^^xsd:string) AnnotationAssertion( "Koehlers Disease"^^xsd:string) AnnotationAssertion( "Navicular Osteochondrosis"^^xsd:string) AnnotationAssertion( "apophysitis"^^xsd:string) AnnotationAssertion( "epiphyseal necrosis"^^xsd:string) AnnotationAssertion( "epiphysitis"^^xsd:string) AnnotationAssertion( "navicular osteochondroses"^^xsd:string) AnnotationAssertion( "osteochondritis juvenilis"^^xsd:string) AnnotationAssertion( "osteochondroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8125"^^xsd:string) AnnotationAssertion(rdfs:label "osteochondrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (septic arthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Septic_arthritis"^^xsd:string) Annotation( "http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm"^^xsd:string) "An arthritis that involves infection by a pathogen located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001351"^^xsd:string) AnnotationAssertion( "GARD:6781"^^xsd:string) AnnotationAssertion( "ICD10CM:M00"^^xsd:string) AnnotationAssertion( "ICD9CM:711.90"^^xsd:string) AnnotationAssertion( "ICD9CM:711.91"^^xsd:string) AnnotationAssertion( "ICD9CM:711.92"^^xsd:string) AnnotationAssertion( "ICD9CM:711.93"^^xsd:string) AnnotationAssertion( "ICD9CM:711.94"^^xsd:string) AnnotationAssertion( "ICD9CM:711.95"^^xsd:string) AnnotationAssertion( "ICD9CM:711.96"^^xsd:string) AnnotationAssertion( "ICD9CM:711.97"^^xsd:string) AnnotationAssertion( "MESH:D001170"^^xsd:string) AnnotationAssertion( "NCI:C26700"^^xsd:string) AnnotationAssertion( "Bacterial Arthritides"^^xsd:string) AnnotationAssertion( "Bacterial Arthritis"^^xsd:string) AnnotationAssertion( "Suppurative Arthritis"^^xsd:string) AnnotationAssertion( "infectious arthritis"^^xsd:string) AnnotationAssertion( "viral arthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:813"^^xsd:string) AnnotationAssertion(rdfs:label "septic arthritis"^^xsd:string) SubClassOf( ) # Class: (breast columnar cell mucinous carcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29658333"^^xsd:string) "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:5996"^^xsd:string) AnnotationAssertion( "NCI:C40355"^^xsd:string) AnnotationAssertion( "Columnar Cell Change of the Breast"^^xsd:string) AnnotationAssertion( "blunt duct adenosis of breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8130"^^xsd:string) AnnotationAssertion(rdfs:label "breast columnar cell mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (epiglottis cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C10.1"^^xsd:string) AnnotationAssertion( "ICD9CM:146.4"^^xsd:string) AnnotationAssertion( "NCI:C35697"^^xsd:string) AnnotationAssertion( "NCI:C4836"^^xsd:string) AnnotationAssertion( "epiglottic cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of epiglottis"^^xsd:string) AnnotationAssertion( "malignant tumor of epiglottis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8133"^^xsd:string) AnnotationAssertion(rdfs:label "epiglottis cancer"^^xsd:string) SubClassOf( ) # Class: (gallbladder lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5734"^^xsd:string) AnnotationAssertion( "RDO:9003185"^^xsd:string) AnnotationAssertion( "lymphoma of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8135"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thymus clear cell carcinoma) AnnotationAssertion( "Clear cell carcinoma of the Thymus"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6462"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6462"^^xsd:string) "Clear cell carcinoma of the Thymus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8137"^^xsd:string) AnnotationAssertion(rdfs:label "thymus clear cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (thymus sarcomatoid carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000577"^^xsd:string) AnnotationAssertion( "NCI:C6463"^^xsd:string) AnnotationAssertion( "thymic carcinosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8138"^^xsd:string) AnnotationAssertion(rdfs:label "thymus sarcomatoid carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (adrenal gland ganglioneuroblastoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7646"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8140"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland ganglioneuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C37204"^^xsd:string) AnnotationAssertion( "CLL/SLL with Unmutated IGVH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8144"^^xsd:string) AnnotationAssertion(rdfs:label "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma"^^xsd:string) SubClassOf( ) # Class: (malignant childhood germ cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6541"^^xsd:string) AnnotationAssertion( "malignant pediatric germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8149"^^xsd:string) AnnotationAssertion(rdfs:label "malignant childhood germ cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (pancreatic invasive intraductal papillary-mucinous carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5726"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8150"^^xsd:string) AnnotationAssertion(rdfs:label "pancreatic invasive intraductal papillary-mucinous carcinoma"^^xsd:string) SubClassOf( ) # Class: (appendiceal L-cell glucagon-like peptide producing tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27445"^^xsd:string) AnnotationAssertion( "appendiceal L-cell glucagon-like peptide producing tumour"^^xsd:string) AnnotationAssertion( "malignant appendiceal L-cell glucagon-like peptide producing tumor"^^xsd:string) AnnotationAssertion( "malignant appendiceal L-cell glucagon-like peptide producing tumour"^^xsd:string) AnnotationAssertion( "malignant appendiceal glucagonoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8151"^^xsd:string) AnnotationAssertion(rdfs:label "appendiceal L-cell glucagon-like peptide producing tumor"^^xsd:string) SubClassOf( ) # Class: (fibroosseous pseudotumor of digits) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6573"^^xsd:string) AnnotationAssertion( "Fibroosseous Digital Pseudotumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8153"^^xsd:string) AnnotationAssertion(rdfs:label "fibroosseous pseudotumor of digits"^^xsd:string) SubClassOf( ) # Class: (complement component 5 deficiency) AnnotationAssertion(Annotation( "http://omim.org/entry/609536"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/gene/C5"^^xsd:string) "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. (DO)"^^xsd:string) AnnotationAssertion( "MIM:609536"^^xsd:string) AnnotationAssertion( "C5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537005"^^xsd:string) AnnotationAssertion( "NCI:C9469"^^xsd:string) AnnotationAssertion( "C5 deficiency"^^xsd:string) AnnotationAssertion( "C5D"^^xsd:string) AnnotationAssertion( "Leiner disease"^^xsd:string) AnnotationAssertion( "dysfunction of the fifth component of complement (C5)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8158"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 5 deficiency"^^xsd:string) SubClassOf( ) # Class: (oncocytic carcinoma of the thyroid) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946"^^xsd:string) "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000592"^^xsd:string) AnnotationAssertion( "MESH:C536913"^^xsd:string) AnnotationAssertion( "MIM:607464"^^xsd:string) AnnotationAssertion( "MONDO:0006465"^^xsd:string) AnnotationAssertion( "NCI:C4946"^^xsd:string) AnnotationAssertion( "Hurthle cell carcinoma of the thyroid"^^xsd:string) AnnotationAssertion( "Hurthle cell thyroid neoplasia"^^xsd:string) AnnotationAssertion( "Oncocytic (Hurthle-cell) carcinoma"^^xsd:string) AnnotationAssertion( "follicular thyroid cancer, Hurthle cell type"^^xsd:string) AnnotationAssertion( "thyroid Hurthle cell carcinoma"^^xsd:string) AnnotationAssertion( "thyroid gland Hurthle cell carcinoma"^^xsd:string) AnnotationAssertion( "thyroid gland oncocytic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8161"^^xsd:string) AnnotationAssertion(rdfs:label "oncocytic carcinoma of the thyroid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid Hurthle cell adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6042"^^xsd:string) AnnotationAssertion( "benign oncocytoma of the thyroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8162"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid Hurthle cell adenoma"^^xsd:string) SubClassOf( ) # Class: (gallbladder melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5735"^^xsd:string) AnnotationAssertion( "RDO:9001863"^^xsd:string) AnnotationAssertion( "malignant melanoma of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8167"^^xsd:string) AnnotationAssertion(rdfs:label "gallbladder melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (interstitial myocarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35786"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:817"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial myocarditis"^^xsd:string) SubClassOf( ) # Class: (fibroepithelial polyp of the anus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000699"^^xsd:string) AnnotationAssertion( "NCI:C5604"^^xsd:string) AnnotationAssertion( "RDO:9003691"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5604"^^xsd:string) "Fibroepithelial polyp of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8170"^^xsd:string) AnnotationAssertion(rdfs:label "fibroepithelial polyp of the anus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endocervical type cervical adenomyoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/cervixadenomyoma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23805464"^^xsd:string) "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40232"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8177"^^xsd:string) AnnotationAssertion(rdfs:label "endocervical type cervical adenomyoma"^^xsd:string) SubClassOf( ) # Class: (endometrial type cervical adenomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8685218"^^xsd:string) "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40233"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8178"^^xsd:string) AnnotationAssertion(rdfs:label "endometrial type cervical adenomyoma"^^xsd:string) SubClassOf( ) # Class: (cervical atypical polypoid adenomyoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23805464"^^xsd:string) "A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40234"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8179"^^xsd:string) AnnotationAssertion(rdfs:label "cervical atypical polypoid adenomyoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube gestational choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/24219747"^^xsd:string) "A gestational choriocarcinoma that is located_in the fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6278"^^xsd:string) AnnotationAssertion( "RDO:9005088"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6278"^^xsd:string) "Gestational Choriocarcinoma of the fallopian tube"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8186"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube gestational choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gestational uterine corpus choriocarcinoma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/gestational-choriocarcinoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16114202"^^xsd:string) "A gestational choriocarcinoma that is located_in the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8187"^^xsd:string) AnnotationAssertion(rdfs:label "gestational uterine corpus choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus choriocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16720931"^^xsd:string) "A choriocarcinoma that is located_in the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27246"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8188"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus choriocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mediastinitis) AnnotationAssertion(Annotation( "http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext"^^xsd:string) "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J98.51"^^xsd:string) AnnotationAssertion( "ICD9CM:519.2"^^xsd:string) AnnotationAssertion( "MESH:D008480"^^xsd:string) AnnotationAssertion( "NCI:C26827"^^xsd:string) AnnotationAssertion( "mediastinitides"^^xsd:string) AnnotationAssertion( "mediastinum inflammation"^^xsd:string) AnnotationAssertion( "mediastinum inflammations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:819"^^xsd:string) AnnotationAssertion(rdfs:label "mediastinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (papillary pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39928"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8193"^^xsd:string) AnnotationAssertion(rdfs:label "papillary pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (hepatoid pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39931"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8195"^^xsd:string) AnnotationAssertion(rdfs:label "hepatoid pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (myotonic cataract) AnnotationAssertion(Annotation( "https://www.nature.com/articles/s41433-018-0161-9"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25037086"^^xsd:string) "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:366.43"^^xsd:string) AnnotationAssertion( "NCI:C34833"^^xsd:string) AnnotationAssertion( "RDO:9002188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:82"^^xsd:string) AnnotationAssertion(rdfs:label "myotonic cataract"^^xsd:string) SubClassOf( ) # Class: (myocarditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myocarditis"^^xsd:string) "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009609"^^xsd:string) AnnotationAssertion( "GARD:7137"^^xsd:string) AnnotationAssertion( "ICD10CM:I51.4"^^xsd:string) AnnotationAssertion( "ICD9CM:429.0"^^xsd:string) AnnotationAssertion( "MESH:D009205"^^xsd:string) AnnotationAssertion( "NCI:C34831"^^xsd:string) AnnotationAssertion( "Carditis"^^xsd:string) AnnotationAssertion( "Myocardial Inflammation"^^xsd:string) AnnotationAssertion( "Myocarditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:820"^^xsd:string) AnnotationAssertion(rdfs:label "myocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tertiary syphilis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis"^^xsd:string) "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:A52"^^xsd:string) AnnotationAssertion( "ICD9CM:097.0"^^xsd:string) AnnotationAssertion( "MESH:C536774"^^xsd:string) AnnotationAssertion( "NCI:C128414"^^xsd:string) AnnotationAssertion( "Late syphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8200"^^xsd:string) AnnotationAssertion(rdfs:label "tertiary syphilis"^^xsd:string) SubClassOf( ) # Class: (sacral spinal canal and spinal cord meningioma) AnnotationAssertion( "meningioma of the Sacral Spinal canal and Spinal Cord"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5299"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5299"^^xsd:string) "meningioma of the Sacral Spinal canal and Spinal Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8203"^^xsd:string) AnnotationAssertion(rdfs:label "sacral spinal canal and spinal cord meningioma"^^xsd:string) SubClassOf( ) # Class: (hilar lung carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7454"^^xsd:string) AnnotationAssertion( "lung hilum carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8207"^^xsd:string) AnnotationAssertion(rdfs:label "hilar lung carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung superior sulcus carcinoma) AnnotationAssertion( "NCI:C7779"^^xsd:string) AnnotationAssertion( "superior sulcus carcinoma of lung"^^xsd:string) AnnotationAssertion( "superior sulcus carcinoma of the lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8208"^^xsd:string) AnnotationAssertion(rdfs:label "lung superior sulcus carcinoma"^^xsd:string) SubClassOf( ) # Class: (fallopian tube cystadenofibroma) AnnotationAssertion(Annotation( "http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26549083"^^xsd:string) "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40114"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8211"^^xsd:string) AnnotationAssertion(rdfs:label "fallopian tube cystadenofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parapharyngeal meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5303"^^xsd:string) AnnotationAssertion( "Primary Parapharyngeal Meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8216"^^xsd:string) AnnotationAssertion(rdfs:label "parapharyngeal meningioma"^^xsd:string) SubClassOf( ) # Class: (upper clivus meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5290"^^xsd:string) AnnotationAssertion( "RDO:9005051"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5290"^^xsd:string) "meningioma of the Upper Clivus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8221"^^xsd:string) AnnotationAssertion(rdfs:label "upper clivus meningioma"^^xsd:string) SubClassOf( ) # Class: (penile urethral cancer) AnnotationAssertion( "NCI:C39868"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8223"^^xsd:string) AnnotationAssertion(rdfs:label "penile urethral cancer"^^xsd:string) SubClassOf( ) # Class: (central breast papilloma) AnnotationAssertion(Annotation( "https://radiopaedia.org/articles/intraductal-papilloma-of-breast"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21310798"^^xsd:string) "A breast duct papilloma that is located_in a major duct. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36087"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C36087"^^xsd:string) "large duct breast papilloma"^^xsd:string) AnnotationAssertion( "solitary intraductal breast papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8224"^^xsd:string) AnnotationAssertion(rdfs:label "central breast papilloma"^^xsd:string) SubClassOf( ) # Class: (microscopic breast papilloma) AnnotationAssertion( "NCI:C36088"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8225"^^xsd:string) AnnotationAssertion(rdfs:label "microscopic breast papilloma"^^xsd:string) SubClassOf( ) # Class: (atypical breast papilloma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20407326"^^xsd:string) "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36089"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8227"^^xsd:string) AnnotationAssertion(rdfs:label "atypical breast papilloma"^^xsd:string) SubClassOf( ) # Class: (periapical periodontitis) AnnotationAssertion(Annotation( "MESH:D010485"^^xsd:string) "Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS."^^xsd:string) AnnotationAssertion( "EFO:1001391"^^xsd:string) AnnotationAssertion( "ICD10CM:K04.5"^^xsd:string) AnnotationAssertion( "MESH:D010485"^^xsd:string) AnnotationAssertion( "RDO:0006315"^^xsd:string) AnnotationAssertion( "Acute Nonsuppurative Periodontitides"^^xsd:string) AnnotationAssertion( "Acute Nonsuppurative Periodontitis"^^xsd:string) AnnotationAssertion( "Apical Periodontitides"^^xsd:string) AnnotationAssertion( "Apical Periodontitis"^^xsd:string) AnnotationAssertion( "Periapical Periodontitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:823"^^xsd:string) AnnotationAssertion(rdfs:label "periapical periodontitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intrahepatic biliary papillomatosis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26885145/"^^xsd:string) "A biliary papillomatosis located_in an intrahepatic bile duct. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7125"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8230"^^xsd:string) AnnotationAssertion(rdfs:label "intrahepatic biliary papillomatosis"^^xsd:string) SubClassOf( ) # Class: (inflammatory liposarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6508"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8233"^^xsd:string) AnnotationAssertion(rdfs:label "inflammatory liposarcoma"^^xsd:string) SubClassOf( ) # Class: (lower clivus meningioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5288"^^xsd:string) AnnotationAssertion( "RDO:9005050"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5288"^^xsd:string) "meningioma of the lower Clivus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8239"^^xsd:string) AnnotationAssertion(rdfs:label "lower clivus meningioma"^^xsd:string) SubClassOf( ) # Class: (periodontitis) AnnotationAssertion(Annotation( "MESH:D010518"^^xsd:string) "Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)"^^xsd:string) AnnotationAssertion( "EFO:0000649"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.3"^^xsd:string) AnnotationAssertion( "MESH:D010518"^^xsd:string) AnnotationAssertion( "NCI:C34918"^^xsd:string) AnnotationAssertion( "chronic pericementitis"^^xsd:string) AnnotationAssertion( "pericementitides"^^xsd:string) AnnotationAssertion( "pericementitis"^^xsd:string) AnnotationAssertion( "periodontitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:824"^^xsd:string) AnnotationAssertion(rdfs:label "periodontitis"^^xsd:string) SubClassOf( ) # Class: (meningeal melanomatosis) AnnotationAssertion(Annotation( "https://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/"^^xsd:string) "A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8728/3"^^xsd:string) AnnotationAssertion( "NCI:C6891"^^xsd:string) AnnotationAssertion( "leptomeningeal melanomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8243"^^xsd:string) AnnotationAssertion(rdfs:label "meningeal melanomatosis"^^xsd:string) SubClassOf( ) # Class: (adult pleomorphic rhabdomyosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8901/3"^^xsd:string) AnnotationAssertion( "NCI:C27369"^^xsd:string) AnnotationAssertion( "pleomorphic rhabdomyosarcoma, adult type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8251"^^xsd:string) AnnotationAssertion(rdfs:label "adult pleomorphic rhabdomyosarcoma"^^xsd:string) SubClassOf( ) # Class: (chronic rhinitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh"^^xsd:string) "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J31.0"^^xsd:string) AnnotationAssertion( "ICD9CM:472.0"^^xsd:string) AnnotationAssertion( "NCI:C34479"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8252"^^xsd:string) AnnotationAssertion(rdfs:label "chronic rhinitis"^^xsd:string) SubClassOf( ) # Class: (vulva fibroepithelial polyp) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000777"^^xsd:string) AnnotationAssertion( "NCI:C6857"^^xsd:string) AnnotationAssertion( "RDO:9003693"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6857"^^xsd:string) "Vulval Fibroepithelial polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8255"^^xsd:string) AnnotationAssertion(rdfs:label "vulva fibroepithelial polyp"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (olfactory neural tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8256"^^xsd:string) AnnotationAssertion(rdfs:label "olfactory neural tumor"^^xsd:string) SubClassOf( ) # Class: (bulbomembranous urethral cancer) AnnotationAssertion( "NCI:C39869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8259"^^xsd:string) AnnotationAssertion(rdfs:label "bulbomembranous urethral cancer"^^xsd:string) SubClassOf( ) # Class: (ureter tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/28087922"^^xsd:string) "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:016.2"^^xsd:string) AnnotationAssertion( "MONDO:0004517"^^xsd:string) AnnotationAssertion( "tuberculosis of ureter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:827"^^xsd:string) AnnotationAssertion(rdfs:label "ureter tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (anterior urethra cancer) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer"^^xsd:string) "A female urethral cancer located_in the anterior urethra. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004518"^^xsd:string) AnnotationAssertion( "NCI:C7641"^^xsd:string) AnnotationAssertion( "anterior urethral malignant tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8272"^^xsd:string) AnnotationAssertion(rdfs:label "anterior urethra cancer"^^xsd:string) SubClassOf( ) # Class: (synovial angioma) AnnotationAssertion( "NCI:C6525"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6525"^^xsd:string) "hemangioma of Synovium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8274"^^xsd:string) AnnotationAssertion(rdfs:label "synovial angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intratubular embryonal carcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11900581"^^xsd:string) "An embryonal testis carcinoma that is located within a tubule. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7325"^^xsd:string) AnnotationAssertion( "RDO:9003732"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8275"^^xsd:string) AnnotationAssertion(rdfs:label "intratubular embryonal carcinoma"^^xsd:string) SubClassOf( ) # Class: (adult epithelioid sarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7944"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8282"^^xsd:string) AnnotationAssertion(rdfs:label "adult epithelioid sarcoma"^^xsd:string) SubClassOf( ) # Class: (peritonitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm"^^xsd:string) "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008588"^^xsd:string) AnnotationAssertion( "ICD9CM:567.8"^^xsd:string) AnnotationAssertion( "MESH:D010538"^^xsd:string) AnnotationAssertion( "Primary Peritonitis"^^xsd:string) AnnotationAssertion( "Retractile mesenteritis"^^xsd:string) AnnotationAssertion( "Secondary Peritonitis"^^xsd:string) AnnotationAssertion( "acute generalized peritonitis"^^xsd:string) AnnotationAssertion( "primary bacterial peritonitis"^^xsd:string) AnnotationAssertion( "sclerosing mesenteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8283"^^xsd:string) AnnotationAssertion(rdfs:label "peritonitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (clear cell squamous cell skin carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4459"^^xsd:string) AnnotationAssertion( "clear cell squamous cell carcinoma of skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8288"^^xsd:string) AnnotationAssertion(rdfs:label "clear cell squamous cell skin carcinoma"^^xsd:string) SubClassOf( ) # Class: (atypical follicular adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8330/1"^^xsd:string) AnnotationAssertion( "NCI:C27729"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8292"^^xsd:string) AnnotationAssertion(rdfs:label "atypical follicular adenoma"^^xsd:string) SubClassOf( ) # Class: (scabies) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm"^^xsd:string) "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B86"^^xsd:string) AnnotationAssertion( "ICD9CM:133.0"^^xsd:string) AnnotationAssertion( "MESH:D012532"^^xsd:string) AnnotationAssertion( "NCI:C34998"^^xsd:string) AnnotationAssertion( "Sarcoptic Mange"^^xsd:string) AnnotationAssertion( "infestation by Sarcoptes scabiei"^^xsd:string) AnnotationAssertion( "infestation by Sarcoptes scabiei var hominis"^^xsd:string) AnnotationAssertion( "sarcoptic itch"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8295"^^xsd:string) AnnotationAssertion(rdfs:label "scabies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cataract) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cataract"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/10414631"^^xsd:string) "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001059"^^xsd:string) AnnotationAssertion( "ICD10CM:H26"^^xsd:string) AnnotationAssertion( "ICD9CM:366.8"^^xsd:string) AnnotationAssertion( "MESH:D002386"^^xsd:string) AnnotationAssertion( "MIM:PS116200"^^xsd:string) AnnotationAssertion( "MONDO:0005129"^^xsd:string) AnnotationAssertion( "Lens Opacification"^^xsd:string) AnnotationAssertion( "cataracts"^^xsd:string) AnnotationAssertion( "lens opacities"^^xsd:string) AnnotationAssertion( "lens opacity"^^xsd:string) AnnotationAssertion( "membranous cataract"^^xsd:string) AnnotationAssertion( "membranous cataracts"^^xsd:string) AnnotationAssertion( "pseudoaphakia"^^xsd:string) AnnotationAssertion( "pseudoaphakias"^^xsd:string) AnnotationAssertion( "CONGENITAL NUCLEAR CATARACT"^^xsd:string) AnnotationAssertion( "CORTICAL PULVERULENT CATARACT"^^xsd:string) AnnotationAssertion( "congenital cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:83"^^xsd:string) AnnotationAssertion(rdfs:label "cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mixed endometrial stromal and smooth muscle tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25755804"^^xsd:string) "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40178"^^xsd:string) AnnotationAssertion( "stromomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8302"^^xsd:string) AnnotationAssertion(rdfs:label "mixed endometrial stromal and smooth muscle tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital granular cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8303"^^xsd:string) AnnotationAssertion(rdfs:label "congenital granular cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymph node palisaded myofibroblastoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html"^^xsd:string) "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6584"^^xsd:string) AnnotationAssertion( "palisaded myofibroblastoma of the lymph node"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8304"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node palisaded myofibroblastoma"^^xsd:string) SubClassOf( ) # Class: (nonossifying fibromyxoid tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6583"^^xsd:string) AnnotationAssertion( "RDO:9005124"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6583"^^xsd:string) "Nonossifying Fibromyxoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8305"^^xsd:string) AnnotationAssertion(rdfs:label "nonossifying fibromyxoid tumor"^^xsd:string) SubClassOf( ) # Class: (early invasive cervical adenocarcinoma) AnnotationAssertion(Annotation( "https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma"^^xsd:string) "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C36096"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8307"^^xsd:string) AnnotationAssertion(rdfs:label "early invasive cervical adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (sclerosing adenosis of breast) AnnotationAssertion(Annotation( "https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html"^^xsd:string) "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5205"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5205"^^xsd:string) "Sclerosing breast Adenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8310"^^xsd:string) AnnotationAssertion(rdfs:label "sclerosing adenosis of breast"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (auditory system cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ear"^^xsd:string) "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3000"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:833"^^xsd:string) AnnotationAssertion(rdfs:label "auditory system cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perineural angioma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6526"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8331"^^xsd:string) AnnotationAssertion(rdfs:label "perineural angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (microglandular adenosis of breast) AnnotationAssertion( "NCI:C5199"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8335"^^xsd:string) AnnotationAssertion(rdfs:label "microglandular adenosis of breast"^^xsd:string) SubClassOf( ) # Class: (childhood choriocarcinoma of the ovary) AnnotationAssertion(Annotation( "https://www.sciencedirect.com/science/article/pii/S1875957211000349"^^xsd:string) "A choriocarcinoma of the ovary that is present during childhood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6549"^^xsd:string) AnnotationAssertion( "RDO:9004208"^^xsd:string) AnnotationAssertion( "childhood ovarian choriocarcinoma"^^xsd:string) AnnotationAssertion( "hildhood choriocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "pediatric choriocarcinoma of ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8336"^^xsd:string) AnnotationAssertion(rdfs:label "childhood choriocarcinoma of the ovary"^^xsd:string) SubClassOf( ) # Class: (appendicitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis"^^xsd:string) "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107700"^^xsd:string) AnnotationAssertion( "EFO:0007149"^^xsd:string) AnnotationAssertion( "ICD10CM:K37"^^xsd:string) AnnotationAssertion( "ICD9CM:540-543.99"^^xsd:string) AnnotationAssertion( "MESH:D001064"^^xsd:string) AnnotationAssertion( "NCI:C35145"^^xsd:string) AnnotationAssertion( "Perforated Appendicitis"^^xsd:string) AnnotationAssertion( "acute appendicitis"^^xsd:string) AnnotationAssertion( "acute appendicitis with generalized peritonitis"^^xsd:string) AnnotationAssertion( "acute appendicitis with peritoneal abscess"^^xsd:string) AnnotationAssertion( "ruptured appendicitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8337"^^xsd:string) AnnotationAssertion(rdfs:label "appendicitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (villoglandular variant cervical mucinous adenocarcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/uterusvilloglandular.html"^^xsd:string) "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000170"^^xsd:string) AnnotationAssertion( "NCI:C40208"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8338"^^xsd:string) AnnotationAssertion(rdfs:label "villoglandular variant cervical mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (intestinal variant cervical mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/"^^xsd:string) "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40203"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8339"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal variant cervical mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (endocervical type cervical mucinous adenocarcinoma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22990556/"^^xsd:string) "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICDO:8482/3"^^xsd:string) AnnotationAssertion( "Mucinous adenocarcinoma, endocervical type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8340"^^xsd:string) AnnotationAssertion(rdfs:label "endocervical type cervical mucinous adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (aortic malignant tumor) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14681654"^^xsd:string) "A vascular cancer that is located_in the aorta. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5375"^^xsd:string) AnnotationAssertion( "aortic malignant neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8352"^^xsd:string) AnnotationAssertion(rdfs:label "aortic malignant tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epithelioid malignant peripheral nerve sheath tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000245"^^xsd:string) AnnotationAssertion( "NCI:C6561"^^xsd:string) AnnotationAssertion( "epithelioid MPNST"^^xsd:string) AnnotationAssertion( "malignant epithelioid neoplasm of the peripheral nerve sheath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8353"^^xsd:string) AnnotationAssertion(rdfs:label "epithelioid malignant peripheral nerve sheath tumor"^^xsd:string) SubClassOf( ) # Class: (complement component 3 deficiency) AnnotationAssertion(Annotation( "https://www.omim.org/entry/613779"^^xsd:string) "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. (DO)"^^xsd:string) AnnotationAssertion( "MIM:613779"^^xsd:string) AnnotationAssertion( "OMIA:000155"^^xsd:string) AnnotationAssertion( "MESH:C565169"^^xsd:string) AnnotationAssertion( "NCI:C9468"^^xsd:string) AnnotationAssertion( "ORDO:280133"^^xsd:string) AnnotationAssertion( "C3 deficiency"^^xsd:string) AnnotationAssertion( "C3 deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "C3D"^^xsd:string) AnnotationAssertion( "complement component 3 deficiency, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8354"^^xsd:string) AnnotationAssertion(rdfs:label "complement component 3 deficiency"^^xsd:string) SubClassOf( ) # Class: (pseudoglandular variant testicular seminoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40958"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8358"^^xsd:string) AnnotationAssertion(rdfs:label "pseudoglandular variant testicular seminoma"^^xsd:string) SubClassOf( ) # Class: (glassy cell variant cervical adenosquamous carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/14749637"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15318016"^^xsd:string) "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C40212"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8361"^^xsd:string) AnnotationAssertion(rdfs:label "glassy cell variant cervical adenosquamous carcinoma"^^xsd:string) SubClassOf( ) # Class: (enteric pattern testicular yolk sac tumor) AnnotationAssertion( "NCI:C39932"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8362"^^xsd:string) AnnotationAssertion(rdfs:label "enteric pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (chordoid meningioma) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/36692061/"^^xsd:string) "A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000176"^^xsd:string) AnnotationAssertion( "NCI:C6908"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8368"^^xsd:string) AnnotationAssertion(rdfs:label "chordoid meningioma"^^xsd:string) SubClassOf( ) # Class: (adult malignant schwannoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7814"^^xsd:string) AnnotationAssertion( "adult MPNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8369"^^xsd:string) AnnotationAssertion(rdfs:label "adult malignant schwannoma"^^xsd:string) SubClassOf( ) # Class: (lumbar plexus neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5824"^^xsd:string) AnnotationAssertion( "tumor of lumbar plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8389"^^xsd:string) AnnotationAssertion(rdfs:label "lumbar plexus neoplasm"^^xsd:string) SubClassOf( ) # Class: (reticular pattern testicular yolk sac tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39923"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8392"^^xsd:string) AnnotationAssertion(rdfs:label "reticular pattern testicular yolk sac tumor"^^xsd:string) SubClassOf( ) # Class: (adult type testicular granulosa cell tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C39946"^^xsd:string) AnnotationAssertion( "RDO:9003645"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8394"^^xsd:string) AnnotationAssertion(rdfs:label "adult type testicular granulosa cell tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteoarthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteoarthritis"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osteoarthritis/DS00019"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm"^^xsd:string) "An arthritis that has_material_basis_in worn out cartilage located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "MIM:140600"^^xsd:string) AnnotationAssertion( "MIM:165720"^^xsd:string) AnnotationAssertion( "MIM:607850"^^xsd:string) AnnotationAssertion( "MIM:610839"^^xsd:string) AnnotationAssertion( "MIM:612400"^^xsd:string) AnnotationAssertion( "MIM:612401"^^xsd:string) AnnotationAssertion( "EFO:0002506"^^xsd:string) AnnotationAssertion( "EFO:1000788"^^xsd:string) AnnotationAssertion( "ICD9CM:715.3"^^xsd:string) AnnotationAssertion( "MESH:D010003"^^xsd:string) AnnotationAssertion( "MONDO:0005178"^^xsd:string) AnnotationAssertion( "NCI:C3293"^^xsd:string) AnnotationAssertion( "DIPOA"^^xsd:string) AnnotationAssertion( "Degenerative Arthritis"^^xsd:string) AnnotationAssertion( "GOA1"^^xsd:string) AnnotationAssertion( "OA"^^xsd:string) AnnotationAssertion( "OADIP"^^xsd:string) AnnotationAssertion( "OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS"^^xsd:string) AnnotationAssertion( "OSTEOARTHRITIS OF KNEE/HIP"^^xsd:string) AnnotationAssertion( "OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA"^^xsd:string) AnnotationAssertion( "Osteoarthroses"^^xsd:string) AnnotationAssertion( "Osteoarthrosis"^^xsd:string) AnnotationAssertion( "degenerative arthritides"^^xsd:string) AnnotationAssertion( "degenerative joint disease"^^xsd:string) AnnotationAssertion( "hypertrophic arthritis"^^xsd:string) AnnotationAssertion( "osteoarthritides"^^xsd:string) AnnotationAssertion( "osteoarthrosis and allied disorder"^^xsd:string) AnnotationAssertion( "osteoarthrosis deformans"^^xsd:string) AnnotationAssertion( "HAND OSTEOARTHRITIS"^^xsd:string) AnnotationAssertion( "HOA HEBERDEN NODES"^^xsd:string) AnnotationAssertion( "osteoarthritis, toe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "OS1"^^xsd:string) AnnotationAssertion( "OS2"^^xsd:string) AnnotationAssertion( "OS3"^^xsd:string) AnnotationAssertion( "OS4"^^xsd:string) AnnotationAssertion( "OS5"^^xsd:string) AnnotationAssertion( "OS6"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 1"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 2"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 3"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 4"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 5"^^xsd:string) AnnotationAssertion( "osteoarthritis susceptibility 6"^^xsd:string) AnnotationAssertion( "DOID:8398"^^xsd:string) AnnotationAssertion(rdfs:label "osteoarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (trombiculiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Trombiculosis"^^xsd:string) "A mite infestation that involves rash caused by Leptotrombidium deliense. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007526"^^xsd:string) AnnotationAssertion( "MESH:D014323"^^xsd:string) AnnotationAssertion( "trombiculiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8399"^^xsd:string) AnnotationAssertion(rdfs:label "trombiculiasis"^^xsd:string) SubClassOf( ) # Class: (osteochondritis dissecans) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Osteochondritis_dissecans"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741"^^xsd:string) "An ischemic bone disease that results_in necrosis located_in epiphysis. (DO)"^^xsd:string) AnnotationAssertion( "GARD:12703"^^xsd:string) AnnotationAssertion( "ICD10CM:M93.2"^^xsd:string) AnnotationAssertion( "ICD9CM:732.7"^^xsd:string) AnnotationAssertion( "MESH:D010008"^^xsd:string) AnnotationAssertion( "NCI:C34877"^^xsd:string) AnnotationAssertion( "NCI:C34878"^^xsd:string) AnnotationAssertion( "OCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:84"^^xsd:string) AnnotationAssertion(rdfs:label "osteochondritis dissecans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cork-handlers' disease) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf"^^xsd:string) "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.3"^^xsd:string) AnnotationAssertion( "ICD9CM:495.3"^^xsd:string) AnnotationAssertion( "cork-handlers' disease or lung"^^xsd:string) AnnotationAssertion( "cork-handlers' lung"^^xsd:string) AnnotationAssertion( "suberosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:840"^^xsd:string) AnnotationAssertion(rdfs:label "cork-handlers' disease"^^xsd:string) SubClassOf( ) # Class: (malignant cornea melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4553"^^xsd:string) AnnotationAssertion( "malignant corneal melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of cornea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8400"^^xsd:string) AnnotationAssertion(rdfs:label "malignant cornea melanoma"^^xsd:string) SubClassOf( ) # Class: (Meckel's diverticulitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17021300"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/17579156"^^xsd:string) "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27300"^^xsd:string) AnnotationAssertion( "RDO:9003928"^^xsd:string) AnnotationAssertion( "Meckel diverticulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8408"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel's diverticulitis"^^xsd:string) SubClassOf( ) # Class: (microinvasive cervical squamous cell carcinoma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html"^^xsd:string) "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C36094"^^xsd:string) AnnotationAssertion( "early invasive cervical squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8409"^^xsd:string) AnnotationAssertion(rdfs:label "microinvasive cervical squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (extrinsic allergic alveolitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch051/ch051b.html"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm"^^xsd:string) "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001321"^^xsd:string) AnnotationAssertion( "GARD:12"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.9"^^xsd:string) AnnotationAssertion( "ICD9CM:495"^^xsd:string) AnnotationAssertion( "MESH:D000542"^^xsd:string) AnnotationAssertion( "NCI:C34369"^^xsd:string) AnnotationAssertion( "extrinsic allergic alveolitides"^^xsd:string) AnnotationAssertion( "hypersensitivity pneumonitides"^^xsd:string) AnnotationAssertion( "hypersensitivity pneumonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:841"^^xsd:string) AnnotationAssertion(rdfs:label "extrinsic allergic alveolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (childhood kidney angiomyolipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD-O:M8860/0"^^xsd:string) AnnotationAssertion( "NCI:C6565"^^xsd:string) AnnotationAssertion( "pediatric renal angiomyolipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8410"^^xsd:string) AnnotationAssertion(rdfs:label "childhood kidney angiomyolipoma"^^xsd:string) SubClassOf( ) # Class: (kidney angiomyolipoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9000764"^^xsd:string) AnnotationAssertion( "MESH:C567682"^^xsd:string) AnnotationAssertion( "EFO:1000312"^^xsd:string) AnnotationAssertion( "NCI:C3888"^^xsd:string) AnnotationAssertion( "angiomyolipoma of kidney"^^xsd:string) AnnotationAssertion( "renal angiomyolipoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Renal TSC2 Angiomyolipomas, Modifier of"^^xsd:string) AnnotationAssertion( "DOID:8411"^^xsd:string) AnnotationAssertion(rdfs:label "kidney angiomyolipoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carcinoma arising in nasal papillomatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27389"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8415"^^xsd:string) AnnotationAssertion(rdfs:label "carcinoma arising in nasal papillomatosis"^^xsd:string) SubClassOf( ) # Class: (congenital fibrosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4244"^^xsd:string) AnnotationAssertion( "infantile fibrosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8418"^^xsd:string) AnnotationAssertion(rdfs:label "congenital fibrosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colloid adenoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4161"^^xsd:string) AnnotationAssertion( "macrofollicular adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8419"^^xsd:string) AnnotationAssertion(rdfs:label "colloid adenoma"^^xsd:string) SubClassOf( ) # Class: (malignant glandular tumor of peripheral nerve sheath) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6560"^^xsd:string) AnnotationAssertion( "glandular MPNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8420"^^xsd:string) AnnotationAssertion(rdfs:label "malignant glandular tumor of peripheral nerve sheath"^^xsd:string) SubClassOf( ) # Class: (follicular infundibulum tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4469"^^xsd:string) AnnotationAssertion( "follicular infundibulum tumour"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4469"^^xsd:string) "neoplasm of the Follicular Infundibulum"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:254694002"^^xsd:string) "tumor of follicular infundibulum"^^xsd:string) AnnotationAssertion( "tumour of follicular infundibulum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8426"^^xsd:string) AnnotationAssertion(rdfs:label "follicular infundibulum tumor"^^xsd:string) SubClassOf( ) # Class: (retinal melanoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8601"^^xsd:string) AnnotationAssertion( "malignant retinal melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8427"^^xsd:string) AnnotationAssertion(rdfs:label "retinal melanoma"^^xsd:string) SubClassOf( ) # Class: (breast apocrine carcinoma in situ) AnnotationAssertion(Annotation( "http://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23771415"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25374127"^^xsd:string) "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C5140"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C5140"^^xsd:string) "Apocrine carcinoma in situ of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8428"^^xsd:string) AnnotationAssertion(rdfs:label "breast apocrine carcinoma in situ"^^xsd:string) SubClassOf( ) # Class: (physiological polycythemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C27311"^^xsd:string) AnnotationAssertion( "RDO:9002588"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8431"^^xsd:string) AnnotationAssertion(rdfs:label "physiological polycythemia"^^xsd:string) SubClassOf( ) # Class: (polycythemia) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera"^^xsd:string) Annotation( "https://www.nhlbi.nih.gov/health-topics/polycythemia-vera"^^xsd:string) "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:000809"^^xsd:string) AnnotationAssertion( "EFO:0005804"^^xsd:string) AnnotationAssertion( "MESH:D011086"^^xsd:string) AnnotationAssertion( "NCI:C26863"^^xsd:string) AnnotationAssertion( "Erythrocytosis"^^xsd:string) AnnotationAssertion( "erythrocythemia"^^xsd:string) AnnotationAssertion( "erythrocytoses"^^xsd:string) AnnotationAssertion( "polycythemias"^^xsd:string) AnnotationAssertion( "ERYTHROCYTOSIS, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN G (Pest)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN INKSTER"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN J (Buda)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN PUTTELANGE"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SAN DIEGO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SHERWOOD FOREST"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN SOUTH MILWAUKEE"^^xsd:string) AnnotationAssertion( "hemoglobin TAK"^^xsd:string) AnnotationAssertion( "DOID:8432"^^xsd:string) AnnotationAssertion(rdfs:label "polycythemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (thyroid malformation) AnnotationAssertion(Annotation( "MESH:D050033"^^xsd:string) "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM."^^xsd:string) AnnotationAssertion( "MESH:D050033"^^xsd:string) AnnotationAssertion( "NCI:C27331"^^xsd:string) AnnotationAssertion( "Ectopic Thyroid"^^xsd:string) AnnotationAssertion( "Thyroid Agenesis"^^xsd:string) AnnotationAssertion( "Thyroid Dysgenesis"^^xsd:string) AnnotationAssertion( "ectopic thyroids"^^xsd:string) AnnotationAssertion( "thyroid hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8433"^^xsd:string) AnnotationAssertion(rdfs:label "thyroid malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestinal obstruction) AnnotationAssertion(Annotation( "MESH:D007415"^^xsd:string) "Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL."^^xsd:string) AnnotationAssertion( "ICD10CM:K56.60"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.609"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.69"^^xsd:string) AnnotationAssertion( "ICD9CM:560.9"^^xsd:string) AnnotationAssertion( "MESH:D007415"^^xsd:string) AnnotationAssertion( "NCI:C9175"^^xsd:string) AnnotationAssertion( "Intestinal Obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8437"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal obstruction"^^xsd:string) SubClassOf( ) # Class: (afferent loop syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32638230/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK546609/"^^xsd:string) Annotation( "https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157"^^xsd:string) "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000799"^^xsd:string) AnnotationAssertion( "MESH:D000343"^^xsd:string) AnnotationAssertion( "afferent limb syndrome"^^xsd:string) AnnotationAssertion( "afferent loop syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8438"^^xsd:string) AnnotationAssertion(rdfs:label "afferent loop syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (postgastrectomy syndrome) AnnotationAssertion(Annotation( "MESH:D011178"^^xsd:string) "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies."^^xsd:string) AnnotationAssertion( "ICD9CM:564.2"^^xsd:string) AnnotationAssertion( "MESH:D011178"^^xsd:string) AnnotationAssertion( "postgastrectomy syndromes"^^xsd:string) AnnotationAssertion( "postgastric surgery syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8439"^^xsd:string) AnnotationAssertion(rdfs:label "postgastrectomy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ileus) AnnotationAssertion(Annotation( "MESH:D045823"^^xsd:string) "A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced."^^xsd:string) AnnotationAssertion( "MESH:D045823"^^xsd:string) AnnotationAssertion( "NCI:C37979"^^xsd:string) AnnotationAssertion( "ileus of intestine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8440"^^xsd:string) AnnotationAssertion(rdfs:label "ileus"^^xsd:string) SubClassOf( ) # Class: (paralytic ileus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.0"^^xsd:string) AnnotationAssertion( "ICD9CM:560.1"^^xsd:string) AnnotationAssertion( "NCI:C93045"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8442"^^xsd:string) AnnotationAssertion(rdfs:label "paralytic ileus"^^xsd:string) SubClassOf( ) # Class: (brachial plexus lesion) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Brachial_plexus_injury"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html"^^xsd:string) "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:353.0"^^xsd:string) AnnotationAssertion( "brachial plexus lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8443"^^xsd:string) AnnotationAssertion(rdfs:label "brachial plexus lesion"^^xsd:string) SubClassOf( ) # Class: (intestinal volvulus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/20549505"^^xsd:string) "An intestinal obstruction characterized by abnormal rotation of the intestines. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193250"^^xsd:string) AnnotationAssertion( "EFO:1000989"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.2"^^xsd:string) AnnotationAssertion( "ICD9CM:560.2"^^xsd:string) AnnotationAssertion( "MESH:D045822"^^xsd:string) AnnotationAssertion( "NCI:C98963"^^xsd:string) AnnotationAssertion( "Volvulus"^^xsd:string) AnnotationAssertion( "familial intestinal malrotation"^^xsd:string) AnnotationAssertion( "intestine volvulus"^^xsd:string) AnnotationAssertion( "twist of intestine, bowel, or colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8445"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal volvulus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intussusception) AnnotationAssertion(Annotation( "MESH:D007443"^^xsd:string) "A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON."^^xsd:string) AnnotationAssertion( "MIM:147710"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.1"^^xsd:string) AnnotationAssertion( "ICD9CM:560.0"^^xsd:string) AnnotationAssertion( "MESH:D007443"^^xsd:string) AnnotationAssertion( "NCI:C113484"^^xsd:string) AnnotationAssertion( "Intestinal Invagination"^^xsd:string) AnnotationAssertion( "Intussusceptions"^^xsd:string) AnnotationAssertion( "Intususception"^^xsd:string) AnnotationAssertion( "intestinal invaginations"^^xsd:string) AnnotationAssertion( "intussusception of intestine"^^xsd:string) AnnotationAssertion( "intususceptions"^^xsd:string) AnnotationAssertion( "invagination of intestine or colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8446"^^xsd:string) AnnotationAssertion(rdfs:label "intussusception"^^xsd:string) SubClassOf( ) # Class: (intestinal impaction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.4"^^xsd:string) AnnotationAssertion( "ICD10CM:K56.49"^^xsd:string) AnnotationAssertion( "ICD9CM:560.39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8448"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal impaction"^^xsd:string) SubClassOf( ) # Class: (cyclothymic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F34.0"^^xsd:string) AnnotationAssertion( "ICD9CM:301.13"^^xsd:string) AnnotationAssertion( "MESH:D003527"^^xsd:string) AnnotationAssertion( "Cyclothymic Disorders"^^xsd:string) AnnotationAssertion( "Cyclothymic Personalities"^^xsd:string) AnnotationAssertion( "Cyclothymic Personality"^^xsd:string) AnnotationAssertion( "affective personality disorder"^^xsd:string) AnnotationAssertion( "cycloid personality"^^xsd:string) AnnotationAssertion( "cyclothymia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:845"^^xsd:string) AnnotationAssertion(rdfs:label "cyclothymic disorder"^^xsd:string) SubClassOf( ) # Class: (riboflavin deficiency) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK470460/"^^xsd:string) "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615026"^^xsd:string) AnnotationAssertion( "ICD10CM:E53.0"^^xsd:string) AnnotationAssertion( "ICD9CM:266.0"^^xsd:string) AnnotationAssertion( "MESH:D012257"^^xsd:string) AnnotationAssertion( "RBFVD"^^xsd:string) AnnotationAssertion( "RTD1"^^xsd:string) AnnotationAssertion( "ariboflavinosis"^^xsd:string) AnnotationAssertion( "riboflavin deficiencies"^^xsd:string) AnnotationAssertion( "riboflavin transporter deficiency type 1"^^xsd:string) AnnotationAssertion( "vitamin B2 deficiency"^^xsd:string) AnnotationAssertion( "MATERNAL RIBOFLAVIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8454"^^xsd:string) AnnotationAssertion(rdfs:label "riboflavin deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyridoxine deficiency anemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK470579/"^^xsd:string) "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E53.1"^^xsd:string) AnnotationAssertion( "ICD9CM:266.1"^^xsd:string) AnnotationAssertion( "MESH:D026681"^^xsd:string) AnnotationAssertion( "NCI:C85221"^^xsd:string) AnnotationAssertion( "pyridoxine deficiency"^^xsd:string) AnnotationAssertion( "vitamin B6 deficiencies"^^xsd:string) AnnotationAssertion( "vitamin B6 deficiency"^^xsd:string) AnnotationAssertion( "vitamin B6 deficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8455"^^xsd:string) AnnotationAssertion(rdfs:label "pyridoxine deficiency anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choline deficiency disease) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/"^^xsd:string) "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D002796"^^xsd:string) AnnotationAssertion( "choline deficiencies"^^xsd:string) AnnotationAssertion( "choline deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8456"^^xsd:string) AnnotationAssertion(rdfs:label "choline deficiency disease"^^xsd:string) SubClassOf( ) # Class: (pellagra) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/16207585"^^xsd:string) "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008570"^^xsd:string) AnnotationAssertion( "GARD:10014"^^xsd:string) AnnotationAssertion( "ICD9CM:265.2"^^xsd:string) AnnotationAssertion( "MESH:D010383"^^xsd:string) AnnotationAssertion( "Pellagras"^^xsd:string) AnnotationAssertion( "niacin deficiency"^^xsd:string) AnnotationAssertion( "niacin-tryptophan deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8457"^^xsd:string) AnnotationAssertion(rdfs:label "pellagra"^^xsd:string) SubClassOf( ) # Class: (Aicardi syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aicardi_syndrome"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/aicardi-syndrome"^^xsd:string) "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. (DO)"^^xsd:string) AnnotationAssertion( "MIM:304050"^^xsd:string) AnnotationAssertion( "EFO:0000247"^^xsd:string) AnnotationAssertion( "GARD:5764"^^xsd:string) AnnotationAssertion( "MESH:D058540"^^xsd:string) AnnotationAssertion( "MONDO:0010568"^^xsd:string) AnnotationAssertion( "NCI:C35256"^^xsd:string) AnnotationAssertion( "ORDO:50"^^xsd:string) AnnotationAssertion( "AIC"^^xsd:string) AnnotationAssertion( "Agenesis of Corpus Callosum with Chorioretinal Abnormality"^^xsd:string) AnnotationAssertion( "Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities"^^xsd:string) AnnotationAssertion( "Aicardi's Syndrome"^^xsd:string) AnnotationAssertion( "Callosal Agenesis and Ocular Abnormalities"^^xsd:string) AnnotationAssertion( "chorioretinal anomalies with ACC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8461"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (corneal ulcer) AnnotationAssertion(Annotation( "MESH:D003320"^^xsd:string) "Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection."^^xsd:string) AnnotationAssertion( "ICD10CM:H16.0"^^xsd:string) AnnotationAssertion( "ICD9CM:370.0"^^xsd:string) AnnotationAssertion( "MESH:D003320"^^xsd:string) AnnotationAssertion( "NCI:C50515"^^xsd:string) AnnotationAssertion( "Ulcerative Keratitides"^^xsd:string) AnnotationAssertion( "Ulcerative Keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8463"^^xsd:string) AnnotationAssertion(rdfs:label "corneal ulcer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (flat retinoschisis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:361.11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8464"^^xsd:string) AnnotationAssertion(rdfs:label "flat retinoschisis"^^xsd:string) SubClassOf( ) # Class: (retinoschisis) AnnotationAssertion(Annotation( "MESH:D041441"^^xsd:string) "A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis."^^xsd:string) AnnotationAssertion( "ICD10CM:H33.10"^^xsd:string) AnnotationAssertion( "ICD9CM:361.10"^^xsd:string) AnnotationAssertion( "MESH:D041441"^^xsd:string) AnnotationAssertion( "NCI:C85046"^^xsd:string) AnnotationAssertion( "Degenerative Retinoschises"^^xsd:string) AnnotationAssertion( "Degenerative Retinoschisis"^^xsd:string) AnnotationAssertion( "Juvenile Retinoschises"^^xsd:string) AnnotationAssertion( "Juvenile Retinoschisis"^^xsd:string) AnnotationAssertion( "RS"^^xsd:string) AnnotationAssertion( "Retinoschises"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8465"^^xsd:string) AnnotationAssertion(rdfs:label "retinoschisis"^^xsd:string) SubClassOf( ) # Class: (retinal degeneration) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation)"^^xsd:string) "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001297"^^xsd:string) AnnotationAssertion( "OMIA:001346"^^xsd:string) AnnotationAssertion( "OMIA:001521"^^xsd:string) AnnotationAssertion( "OMIA:001572"^^xsd:string) AnnotationAssertion( "OMIA:001984"^^xsd:string) AnnotationAssertion( "MESH:D012162"^^xsd:string) AnnotationAssertion( "NCI:C34979"^^xsd:string) AnnotationAssertion( "degeneration of retina"^^xsd:string) AnnotationAssertion( "retina degeneration"^^xsd:string) AnnotationAssertion( "retinal degenerations"^^xsd:string) AnnotationAssertion( "PRA"^^xsd:string) AnnotationAssertion( "PRA 1"^^xsd:string) AnnotationAssertion( "PRA 2"^^xsd:string) AnnotationAssertion( "autosomal dominant PRA"^^xsd:string) AnnotationAssertion( "early retinal degeneration"^^xsd:string) AnnotationAssertion( "generalized PRA"^^xsd:string) AnnotationAssertion( "progressive retinal atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8466"^^xsd:string) AnnotationAssertion(rdfs:label "retinal degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (influenza) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch198/ch198d.html"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/2003/fs211/en/"^^xsd:string) "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007328"^^xsd:string) AnnotationAssertion( "ICD10CM:J11.1"^^xsd:string) AnnotationAssertion( "ICD9CM:487"^^xsd:string) AnnotationAssertion( "NCI:C53482"^^xsd:string) AnnotationAssertion( "Grippe"^^xsd:string) AnnotationAssertion( "Influenza with other manifestations"^^xsd:string) AnnotationAssertion( "flu"^^xsd:string) AnnotationAssertion( "influenza with non-respiratory manifestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8469"^^xsd:string) AnnotationAssertion(rdfs:label "influenza"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (localized scleroderma) AnnotationAssertion(Annotation( "MESH:D012594"^^xsd:string) "A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules."^^xsd:string) AnnotationAssertion( "EFO:1001361"^^xsd:string) AnnotationAssertion( "GARD:7058"^^xsd:string) AnnotationAssertion( "ICD10CM:L94.0"^^xsd:string) AnnotationAssertion( "ICD9CM:701.0"^^xsd:string) AnnotationAssertion( "MESH:D012594"^^xsd:string) AnnotationAssertion( "NCI:C72069"^^xsd:string) AnnotationAssertion( "Circumscribed Scleroderma"^^xsd:string) AnnotationAssertion( "Frontal Linear Scleroderma en Coup de Sabre"^^xsd:string) AnnotationAssertion( "Linear Scleroderma"^^xsd:string) AnnotationAssertion( "Morphea"^^xsd:string) AnnotationAssertion( "Morpheas"^^xsd:string) AnnotationAssertion( "circumscribed or localised scleroderma"^^xsd:string) AnnotationAssertion( "circumscribed or localized scleroderma"^^xsd:string) AnnotationAssertion( "localised morphea"^^xsd:string) AnnotationAssertion( "localised morphoea"^^xsd:string) AnnotationAssertion( "localised scleroderma"^^xsd:string) AnnotationAssertion( "localized morphea"^^xsd:string) AnnotationAssertion( "localized sclerodermas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8472"^^xsd:string) AnnotationAssertion(rdfs:label "localized scleroderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Whipple disease) AnnotationAssertion(Annotation( "MESH:D008061"^^xsd:string) "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS."^^xsd:string) AnnotationAssertion( "EFO:0000775"^^xsd:string) AnnotationAssertion( "GARD:7889"^^xsd:string) AnnotationAssertion( "ICD10CM:K90.81"^^xsd:string) AnnotationAssertion( "ICD9CM:040.2"^^xsd:string) AnnotationAssertion( "MESH:D008061"^^xsd:string) AnnotationAssertion( "NCI:C85228"^^xsd:string) AnnotationAssertion( "Intestinal Lipodystrophy"^^xsd:string) AnnotationAssertion( "Whipple's disease"^^xsd:string) AnnotationAssertion( "Whipples disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8476"^^xsd:string) AnnotationAssertion(rdfs:label "Whipple disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (actinomycosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Actinomycosis"^^xsd:string) "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007128"^^xsd:string) AnnotationAssertion( "GARD:5728"^^xsd:string) AnnotationAssertion( "ICD10CM:A42"^^xsd:string) AnnotationAssertion( "ICD9CM:039.9"^^xsd:string) AnnotationAssertion( "MESH:D000196"^^xsd:string) AnnotationAssertion( "NCI:C34350"^^xsd:string) AnnotationAssertion( "Actinomyces Infection"^^xsd:string) AnnotationAssertion( "Actinomyces Infections"^^xsd:string) AnnotationAssertion( "Actinomycoses"^^xsd:string) AnnotationAssertion( "Madura foot due to Actinomadura"^^xsd:string) AnnotationAssertion( "actinomycotic infection"^^xsd:string) AnnotationAssertion( "actinomycotic madura foot"^^xsd:string) AnnotationAssertion( "actinomycotic mycetema"^^xsd:string) AnnotationAssertion( "actinomycotic mycetoma of foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "actinomycetoma"^^xsd:string) AnnotationAssertion( "boil"^^xsd:string) AnnotationAssertion( "DOID:8478"^^xsd:string) AnnotationAssertion(rdfs:label "actinomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (arthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Arthritis"^^xsd:string) Annotation( "http://www.arthritis.org/"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm"^^xsd:string) Annotation( "https://www.cdc.gov/arthritis/index.htm"^^xsd:string) "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005856"^^xsd:string) AnnotationAssertion( "ICD10CM:M19.90"^^xsd:string) AnnotationAssertion( "MESH:D001168"^^xsd:string) AnnotationAssertion( "NCI:C2883"^^xsd:string) AnnotationAssertion( "Arthritides"^^xsd:string) AnnotationAssertion( "Polyarthritides"^^xsd:string) AnnotationAssertion( "Polyarthritis"^^xsd:string) AnnotationAssertion( "inflammatory disorder of joint"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:848"^^xsd:string) AnnotationAssertion(rdfs:label "arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rheumatic myocarditis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I01.9"^^xsd:string) AnnotationAssertion( "ICD10CM:M05.3"^^xsd:string) AnnotationAssertion( "ICD9CM:391.9"^^xsd:string) AnnotationAssertion( "ICD9CM:398.0"^^xsd:string) AnnotationAssertion( "NCI:C34985"^^xsd:string) AnnotationAssertion( "Rheumatic degeneration of myocardium"^^xsd:string) AnnotationAssertion( "active rheumatic fever with myocarditis"^^xsd:string) AnnotationAssertion( "acute rheumatic carditis"^^xsd:string) AnnotationAssertion( "acute rheumatic myocarditis"^^xsd:string) AnnotationAssertion( "rheumatic fever with myocarditis"^^xsd:string) AnnotationAssertion( "rheumatoid myocarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8481"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatic myocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (transient retinal arterial occlusion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H34.0"^^xsd:string) AnnotationAssertion( "ICD9CM:362.34"^^xsd:string) AnnotationAssertion( "NCI:C35193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8482"^^xsd:string) AnnotationAssertion(rdfs:label "transient retinal arterial occlusion"^^xsd:string) SubClassOf( ) # Class: (retinal artery occlusion) AnnotationAssertion(Annotation( "MESH:D015356"^^xsd:string) "Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye."^^xsd:string) AnnotationAssertion( "EFO:1001154"^^xsd:string) AnnotationAssertion( "MESH:D015356"^^xsd:string) AnnotationAssertion( "NCI:C34978"^^xsd:string) AnnotationAssertion( "Retinal Artery Occlusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8483"^^xsd:string) AnnotationAssertion(rdfs:label "retinal artery occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (maple bark strippers' lung) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/2735559"^^xsd:string) "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J67.6"^^xsd:string) AnnotationAssertion( "ICD9CM:495.6"^^xsd:string) AnnotationAssertion( "alveolitis due to cryptostroma corticale"^^xsd:string) AnnotationAssertion( "maple bark disease"^^xsd:string) AnnotationAssertion( "maple bark stripper's disease"^^xsd:string) AnnotationAssertion( "maple bark stripper's lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8484"^^xsd:string) AnnotationAssertion(rdfs:label "maple bark strippers' lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mucormycosis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm"^^xsd:string) "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007380"^^xsd:string) AnnotationAssertion( "MESH:D009091"^^xsd:string) AnnotationAssertion( "disseminated mucormycosis"^^xsd:string) AnnotationAssertion( "mucormycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8485"^^xsd:string) AnnotationAssertion(rdfs:label "mucormycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyhydramnios) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Polyhydramnios"^^xsd:string) "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:O40"^^xsd:string) AnnotationAssertion( "ICD9CM:657.0"^^xsd:string) AnnotationAssertion( "MESH:D006831"^^xsd:string) AnnotationAssertion( "NCI:C92848"^^xsd:string) AnnotationAssertion( "Hydramnios"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8488"^^xsd:string) AnnotationAssertion(rdfs:label "polyhydramnios"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rheumatoid arthritis interstitial lung disease) AnnotationAssertion(Annotation( "https://err.ersjournals.com/content/30/160/210011"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29119259"^^xsd:string) "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:714.81"^^xsd:string) AnnotationAssertion( "rheumatoid lung"^^xsd:string) AnnotationAssertion( "rheumatoid lung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:849"^^xsd:string) AnnotationAssertion(rdfs:label "rheumatoid arthritis interstitial lung disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary night blindness) AnnotationAssertion( "OMIA:001876"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.63"^^xsd:string) AnnotationAssertion( "ICD9CM:368.61"^^xsd:string) AnnotationAssertion( "MESH:C537743"^^xsd:string) AnnotationAssertion( "Oguchi disease"^^xsd:string) AnnotationAssertion( "Oguchi's disease"^^xsd:string) AnnotationAssertion( "Stationary night blindness, Oguchi type"^^xsd:string) AnnotationAssertion( "congenital night blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8498"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary night blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (night blindness) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Nyctalopia"^^xsd:string) "A retinal disease that is characterized by difficulty or the inability to see in relatively low light. (DO)"^^xsd:string) AnnotationAssertion( "NYX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.6"^^xsd:string) AnnotationAssertion( "ICD9CM:368.6"^^xsd:string) AnnotationAssertion( "MESH:D009755"^^xsd:string) AnnotationAssertion( "MIM:310500"^^xsd:string) AnnotationAssertion( "NCI:C34850"^^xsd:string) AnnotationAssertion( "NCI:C37997"^^xsd:string) AnnotationAssertion( "nyctalopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8499"^^xsd:string) AnnotationAssertion(rdfs:label "night blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung disease) AnnotationAssertion(Annotation( "http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm"^^xsd:string) "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003818"^^xsd:string) AnnotationAssertion( "EFO:0009910"^^xsd:string) AnnotationAssertion( "ICD10CM:J98.4"^^xsd:string) AnnotationAssertion( "MESH:D008171"^^xsd:string) AnnotationAssertion( "NCI:C3198"^^xsd:string) AnnotationAssertion( "LUNG DISEASE, NON-SPECIFIC"^^xsd:string) AnnotationAssertion( "Pulmonary Disease"^^xsd:string) AnnotationAssertion( "Pulmonary Diseases"^^xsd:string) AnnotationAssertion( "lung diseases"^^xsd:string) AnnotationAssertion( "CHRONIC LUNG DISEASE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:850"^^xsd:string) AnnotationAssertion(rdfs:label "lung disease"^^xsd:string) SubClassOf( ) # Class: (hereditary retinal dystrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.7"^^xsd:string) AnnotationAssertion( "NCI:C35194"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8500"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary retinal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fundus dystrophy) AnnotationAssertion(Annotation( "MESH:D058499"^^xsd:string) "A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues."^^xsd:string) AnnotationAssertion( "MESH:D058499"^^xsd:string) AnnotationAssertion( "NCI:C35625"^^xsd:string) AnnotationAssertion( "Retinal Dystrophy"^^xsd:string) AnnotationAssertion( "retinal dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8501"^^xsd:string) AnnotationAssertion(rdfs:label "fundus dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bullous skin disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Dermatitis_herpetiformis"^^xsd:string) "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008598"^^xsd:string) AnnotationAssertion( "EFO:1000673"^^xsd:string) AnnotationAssertion( "bullous dermatoses"^^xsd:string) AnnotationAssertion( "bullous skin diseases"^^xsd:string) AnnotationAssertion( "autoimmune bullous skin disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8502"^^xsd:string) AnnotationAssertion(rdfs:label "bullous skin disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (impetigo herpetiformis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Impetigo_herpetiformis"^^xsd:string) "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000715"^^xsd:string) AnnotationAssertion( "ICD10CM:L40.1"^^xsd:string) AnnotationAssertion( "ICD9CM:694.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8503"^^xsd:string) AnnotationAssertion(rdfs:label "impetigo herpetiformis"^^xsd:string) SubClassOf( ) # Class: (impetigo) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352"^^xsd:string) "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000714"^^xsd:string) AnnotationAssertion( "ICD10CM:L01.0"^^xsd:string) AnnotationAssertion( "ICD9CM:684"^^xsd:string) AnnotationAssertion( "MESH:D007169"^^xsd:string) AnnotationAssertion( "NCI:C99088"^^xsd:string) AnnotationAssertion( "impetigo contagiosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8504"^^xsd:string) AnnotationAssertion(rdfs:label "impetigo"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dermatitis herpetiformis) AnnotationAssertion(Annotation( "MESH:D003874"^^xsd:string) "Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis."^^xsd:string) AnnotationAssertion( "EFO:1000684"^^xsd:string) AnnotationAssertion( "GARD:1917"^^xsd:string) AnnotationAssertion( "ICD10CM:L13.0"^^xsd:string) AnnotationAssertion( "ICD9CM:694.0"^^xsd:string) AnnotationAssertion( "MESH:D003874"^^xsd:string) AnnotationAssertion( "NCI:C26742"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:694.0"^^xsd:string) "Dermatosis herpetiformis"^^xsd:string) AnnotationAssertion( "Duhring Disease"^^xsd:string) AnnotationAssertion( "Duhring's Disease"^^xsd:string) AnnotationAssertion( "Duhrings Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8505"^^xsd:string) AnnotationAssertion(rdfs:label "dermatitis herpetiformis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bullous pemphigoid) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/bullous-pemphigoid/"^^xsd:string) "A pemphigoid that is characterized by large blisters. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007187"^^xsd:string) AnnotationAssertion( "EFO:0008597"^^xsd:string) AnnotationAssertion( "EFO:0008598"^^xsd:string) AnnotationAssertion( "GARD:5972"^^xsd:string) AnnotationAssertion( "ICD10CM:L12"^^xsd:string) AnnotationAssertion( "ICD10CM:L12.0"^^xsd:string) AnnotationAssertion( "ICD10CM:L12.9"^^xsd:string) AnnotationAssertion( "ICD9CM:694.5"^^xsd:string) AnnotationAssertion( "MESH:D010391"^^xsd:string) AnnotationAssertion( "NCI:C84389"^^xsd:string) AnnotationAssertion( "autoimmune bullous skin disease"^^xsd:string) AnnotationAssertion( "anti-p200 pemphigoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8506"^^xsd:string) AnnotationAssertion(rdfs:label "bullous pemphigoid"^^xsd:string) SubClassOf( ) # Class: (juvenile dermatitis herpetiformis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000719"^^xsd:string) AnnotationAssertion( "ICD10CM:L12.2"^^xsd:string) AnnotationAssertion( "ICD9CM:694.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8507"^^xsd:string) AnnotationAssertion(rdfs:label "juvenile dermatitis herpetiformis"^^xsd:string) SubClassOf( ) # Class: (subcorneal pustular dermatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000771"^^xsd:string) AnnotationAssertion( "ICD10CM:L13.1"^^xsd:string) AnnotationAssertion( "ICD9CM:694.1"^^xsd:string) AnnotationAssertion( "Sneddon Wilkinson Disease"^^xsd:string) AnnotationAssertion( "Sneddon-Wilkinson disease or syndrome"^^xsd:string) AnnotationAssertion( "Subcorneal Pustular Dermatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8508"^^xsd:string) AnnotationAssertion(rdfs:label "subcorneal pustular dermatosis"^^xsd:string) SubClassOf( ) # Class: (Bartholin's duct cyst) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12887119"^^xsd:string) "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N75.0"^^xsd:string) AnnotationAssertion( "ICD9CM:616.2"^^xsd:string) AnnotationAssertion( "NCI:C26706"^^xsd:string) AnnotationAssertion( "RDO:9004595"^^xsd:string) AnnotationAssertion( "Bartholin duct cyst"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:57044006"^^xsd:string) "Bartholin's cyst"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:155982004"^^xsd:string) "Cyst of Bartholin's gland"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C26706"^^xsd:string) "cyst of Bartholin's gland duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:851"^^xsd:string) AnnotationAssertion(rdfs:label "Bartholin's duct cyst"^^xsd:string) SubClassOf( ) # Class: (puerperal pulmonary embolism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:O88.21"^^xsd:string) AnnotationAssertion( "ICD9CM:673"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8512"^^xsd:string) AnnotationAssertion(rdfs:label "puerperal pulmonary embolism"^^xsd:string) SubClassOf( ) # Class: (acute pulmonary heart disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:415"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8514"^^xsd:string) AnnotationAssertion(rdfs:label "acute pulmonary heart disease"^^xsd:string) SubClassOf( ) # Class: (Cor pulmonale) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cor_pulmonale"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Heart_disease"^^xsd:string) "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:I27.81"^^xsd:string) AnnotationAssertion( "MESH:D011660"^^xsd:string) AnnotationAssertion( "cardiopulmonary disease"^^xsd:string) AnnotationAssertion( "pulmonary heart disease"^^xsd:string) AnnotationAssertion( "pulmonary heart diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8515"^^xsd:string) AnnotationAssertion(rdfs:label "Cor pulmonale"^^xsd:string) SubClassOf( ) # Class: (pulmonary embolism and infarction) AnnotationAssertion(Annotation( "MESH:D054060"^^xsd:string) "NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung."^^xsd:string) AnnotationAssertion( "EFO:1001408"^^xsd:string) AnnotationAssertion( "ICD9CM:415.1"^^xsd:string) AnnotationAssertion( "MESH:D054060"^^xsd:string) AnnotationAssertion( "Pulmonary Infarction"^^xsd:string) AnnotationAssertion( "Pulmonary Infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8516"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary embolism and infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute cor pulmonale) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I26.09"^^xsd:string) AnnotationAssertion( "ICD9CM:415"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8517"^^xsd:string) AnnotationAssertion(rdfs:label "acute cor pulmonale"^^xsd:string) SubClassOf( ) # Class: (barbiturate abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Barbiturate"^^xsd:string) "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F13.11"^^xsd:string) AnnotationAssertion( "ICD9CM:305.43"^^xsd:string) AnnotationAssertion( "barbiturate use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8519"^^xsd:string) AnnotationAssertion(rdfs:label "barbiturate abuse"^^xsd:string) SubClassOf( ) # Class: (monocytic leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Monocytic_leukemia"^^xsd:string) "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C93.Z"^^xsd:string) AnnotationAssertion( "ICD9CM:206.8"^^xsd:string) AnnotationAssertion( "NCI:C21894"^^xsd:string) AnnotationAssertion( "RDO:9002322"^^xsd:string) AnnotationAssertion( "Schilling's leukaemia"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2004-2820"^^xsd:string) "Schilling's leukemia"^^xsd:string) AnnotationAssertion( "monocytic leukaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8527"^^xsd:string) AnnotationAssertion(rdfs:label "monocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (ulcer of lower limbs) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer"^^xsd:string) "A chronic ulcer of skin where the ulcer is not a decubitus ulcer. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007068"^^xsd:string) AnnotationAssertion( "Ulcer of ankle"^^xsd:string) AnnotationAssertion( "Ulcer of calf"^^xsd:string) AnnotationAssertion( "Ulcer of heel and midfoot"^^xsd:string) AnnotationAssertion( "Ulcer of thigh"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8529"^^xsd:string) AnnotationAssertion(rdfs:label "ulcer of lower limbs"^^xsd:string) SubClassOf( ) # Class: (polymyalgia rheumatica) AnnotationAssertion(Annotation( "https://medlineplus.gov/polymyalgiarheumatica.html"^^xsd:string) "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008518"^^xsd:string) AnnotationAssertion( "ICD10CM:M35.3"^^xsd:string) AnnotationAssertion( "ICD9CM:725"^^xsd:string) AnnotationAssertion( "MESH:D011111"^^xsd:string) AnnotationAssertion( "NCI:C85018"^^xsd:string) AnnotationAssertion( "Forestier Certonciny Syndrome"^^xsd:string) AnnotationAssertion( "Peri-Extra-Articular Rheumatism"^^xsd:string) AnnotationAssertion( "Rhizomelic Pseudopolyarthritides"^^xsd:string) AnnotationAssertion( "Rhizomelic Pseudopolyarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:853"^^xsd:string) AnnotationAssertion(rdfs:label "polymyalgia rheumatica"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypopharynx cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypopharynx"^^xsd:string) "A pharynx cancer that is located_in the hypopharynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002938"^^xsd:string) AnnotationAssertion( "EFO:0007321"^^xsd:string) AnnotationAssertion( "GARD:9334"^^xsd:string) AnnotationAssertion( "ICD10CM:C13"^^xsd:string) AnnotationAssertion( "ICD10CM:C13.2"^^xsd:string) AnnotationAssertion( "ICD9CM:148"^^xsd:string) AnnotationAssertion( "ICD9CM:148.3"^^xsd:string) AnnotationAssertion( "NCI:C7190"^^xsd:string) AnnotationAssertion( "hypopharyngeal cancer"^^xsd:string) AnnotationAssertion( "hypopharyngeal cancers"^^xsd:string) AnnotationAssertion( "malignant hypopharyngeal tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of hypopharynx"^^xsd:string) AnnotationAssertion( "malignant tumor of hypopharynx"^^xsd:string) AnnotationAssertion( "malignant tumour of hypopharynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8533"^^xsd:string) AnnotationAssertion(rdfs:label "hypopharynx cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (gastroesophageal reflux disease) AnnotationAssertion(Annotation( "MESH:D005764"^^xsd:string) "Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER."^^xsd:string) AnnotationAssertion( "MIM:109350"^^xsd:string) AnnotationAssertion( "EFO:0003948"^^xsd:string) AnnotationAssertion( "ICD10CM:K21"^^xsd:string) AnnotationAssertion( "ICD10CM:K21.9"^^xsd:string) AnnotationAssertion( "ICD9CM:530.81"^^xsd:string) AnnotationAssertion( "MESH:D005764"^^xsd:string) AnnotationAssertion( "NCI:C26781"^^xsd:string) AnnotationAssertion( "Esophageal Reflux"^^xsd:string) AnnotationAssertion( "GASTROESOPHAGEAL REFLUX, PEDIATRIC"^^xsd:string) AnnotationAssertion( "GER"^^xsd:string) AnnotationAssertion( "GERD"^^xsd:string) AnnotationAssertion( "GERD - gastro-esophageal reflux disease"^^xsd:string) AnnotationAssertion( "Gastric Acid Reflux"^^xsd:string) AnnotationAssertion( "Gastric Acid Reflux Disease"^^xsd:string) AnnotationAssertion( "Gastro Esophageal Reflux"^^xsd:string) AnnotationAssertion( "acid reflux"^^xsd:string) AnnotationAssertion( "gastresophageal reflux"^^xsd:string) AnnotationAssertion( "gastro-oesophageal reflux"^^xsd:string) AnnotationAssertion( "gastroesophageal reflux"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8534"^^xsd:string) AnnotationAssertion(rdfs:label "gastroesophageal reflux disease"^^xsd:string) SubClassOf( ) # Class: (herpes zoster) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Herpes_zoster"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm"^^xsd:string) "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006510"^^xsd:string) AnnotationAssertion( "ICD10CM:B02"^^xsd:string) AnnotationAssertion( "ICD9CM:053"^^xsd:string) AnnotationAssertion( "MESH:D006562"^^xsd:string) AnnotationAssertion( "NCI:C71079"^^xsd:string) AnnotationAssertion( "herpes zona"^^xsd:string) AnnotationAssertion( "shingles"^^xsd:string) AnnotationAssertion( "zona"^^xsd:string) AnnotationAssertion( "zoster"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8536"^^xsd:string) AnnotationAssertion(rdfs:label "herpes zoster"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (reticulosarcoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0005287"^^xsd:string) AnnotationAssertion( "ICD9CM:200.0"^^xsd:string) AnnotationAssertion( "MIM:267730"^^xsd:string) AnnotationAssertion( "NCI:C134780"^^xsd:string) AnnotationAssertion( "NCI:C27824"^^xsd:string) AnnotationAssertion( "histiocytic lymphoma"^^xsd:string) AnnotationAssertion( "large-cell lymphoma"^^xsd:string) AnnotationAssertion( "large-cell lymphomas"^^xsd:string) AnnotationAssertion( "reticulosarcomas"^^xsd:string) AnnotationAssertion( "reticulum cell sarcoma"^^xsd:string) AnnotationAssertion( "reticulum-cell sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8538"^^xsd:string) AnnotationAssertion(rdfs:label "reticulosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (collagen disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Connective_tissue_disease"^^xsd:string) "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D003095"^^xsd:string) AnnotationAssertion( "NCI:C27204"^^xsd:string) AnnotationAssertion( "collagen diseases"^^xsd:string) AnnotationAssertion( "collagen disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:854"^^xsd:string) AnnotationAssertion(rdfs:label "collagen disease"^^xsd:string) SubClassOf( ) # Class: (Sezary's disease) AnnotationAssertion(Annotation( "MESH:D012751"^^xsd:string) "A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)."^^xsd:string) AnnotationAssertion( "EFO:1000785"^^xsd:string) AnnotationAssertion( "GARD:7629"^^xsd:string) AnnotationAssertion( "ICD10CM:C84.1"^^xsd:string) AnnotationAssertion( "ICD9CM:202.2"^^xsd:string) AnnotationAssertion( "MESH:D012751"^^xsd:string) AnnotationAssertion( "NCI:C3366"^^xsd:string) AnnotationAssertion( "Sezary Erythroderma"^^xsd:string) AnnotationAssertion( "Sezary Lymphoma"^^xsd:string) AnnotationAssertion( "Sezary disease"^^xsd:string) AnnotationAssertion( "Sezary syndrome"^^xsd:string) AnnotationAssertion( "Sezary's Lymphoma"^^xsd:string) AnnotationAssertion( "Sezarys Lymphoma"^^xsd:string) AnnotationAssertion( "SEZARY SYNDROME, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8541"^^xsd:string) AnnotationAssertion(rdfs:label "Sezary's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hodgkin's lymphoma, lymphocytic-histiocytic predominance) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C81.4"^^xsd:string) AnnotationAssertion( "ICD9CM:201.4"^^xsd:string) AnnotationAssertion( "NCI:C6913"^^xsd:string) AnnotationAssertion( "RDO:9004173"^^xsd:string) AnnotationAssertion( "Hodgkin lymphoma, lymphocyte-rich"^^xsd:string) AnnotationAssertion( "Hodgkin lymphoma, lymphocytic-histiocytic predominance"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:128799007"^^xsd:string) "Hodgkin's disease, lymphocyte predominance"^^xsd:string) AnnotationAssertion( "Lymphocyte Rich Hodgkin's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8543"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's lymphoma, lymphocytic-histiocytic predominance"^^xsd:string) SubClassOf( ) # Class: (chronic fatigue syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome"^^xsd:string) "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004540"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.32"^^xsd:string) AnnotationAssertion( "ICD10CM:R53.82"^^xsd:string) AnnotationAssertion( "ICD9CM:780.71"^^xsd:string) AnnotationAssertion( "MESH:D015673"^^xsd:string) AnnotationAssertion( "MONDO:0005404"^^xsd:string) AnnotationAssertion( "NCI:C3037"^^xsd:string) AnnotationAssertion( "ORDO:1983"^^xsd:string) AnnotationAssertion( "CFS"^^xsd:string) AnnotationAssertion( "Chronic Fatigue Disorder"^^xsd:string) AnnotationAssertion( "Chronic Fatigue Fibromyalgia Syndrome"^^xsd:string) AnnotationAssertion( "Chronic Fatigue Syndromes"^^xsd:string) AnnotationAssertion( "Infectious Mononucleosis Like Syndrome, Chronic"^^xsd:string) AnnotationAssertion( "Myalgic Encephalomyelitis"^^xsd:string) AnnotationAssertion( "chronic fatigue and immune dysfunction syndrome"^^xsd:string) AnnotationAssertion( "chronic fatigue disorders"^^xsd:string) AnnotationAssertion( "chronic fatigue-fibromyalgia syndromes"^^xsd:string) AnnotationAssertion( "myalgic encephalitis"^^xsd:string) AnnotationAssertion( "myalgic encephalomyelitis/chronic fatigue syndrome"^^xsd:string) AnnotationAssertion( "postviral fatigue syndrome"^^xsd:string) AnnotationAssertion( "postviral fatigue syndromes"^^xsd:string) AnnotationAssertion( "royal free disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8544"^^xsd:string) AnnotationAssertion(rdfs:label "chronic fatigue syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (malignant hyperthermia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Malignant_hyperthermia"^^xsd:string) "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). (DO)"^^xsd:string) AnnotationAssertion( "MESH:C535694"^^xsd:string) AnnotationAssertion( "MESH:C535695"^^xsd:string) AnnotationAssertion( "MESH:C535696"^^xsd:string) AnnotationAssertion( "MESH:C535697"^^xsd:string) AnnotationAssertion( "MESH:C535698"^^xsd:string) AnnotationAssertion( "MESH:C535699"^^xsd:string) AnnotationAssertion( "MIM:145600"^^xsd:string) AnnotationAssertion( "MIM:154275"^^xsd:string) AnnotationAssertion( "MIM:154276"^^xsd:string) AnnotationAssertion( "MIM:600467"^^xsd:string) AnnotationAssertion( "MIM:601887"^^xsd:string) AnnotationAssertion( "MIM:601888"^^xsd:string) AnnotationAssertion( "OMIA:000621"^^xsd:string) AnnotationAssertion( "GARD:6964"^^xsd:string) AnnotationAssertion( "ICD10CM:T88.3"^^xsd:string) AnnotationAssertion( "ICD9CM:995.86"^^xsd:string) AnnotationAssertion( "MESH:D008305"^^xsd:string) AnnotationAssertion( "MIM:PS145600"^^xsd:string) AnnotationAssertion( "NCI:C84869"^^xsd:string) AnnotationAssertion( "ORDO:423"^^xsd:string) AnnotationAssertion( "MALIGNANT HYPERTHERMIA OF ANESTHESIA"^^xsd:string) AnnotationAssertion( "MHS"^^xsd:string) AnnotationAssertion( "anesthesia hyperthermia"^^xsd:string) AnnotationAssertion( "anesthesia hyperthermias"^^xsd:string) AnnotationAssertion( "anesthesia related hyperthermia"^^xsd:string) AnnotationAssertion( "anesthesia related hyperthermias"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia due to anesthesia"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexias"^^xsd:string) AnnotationAssertion( "malignant hyperthermia equivocal with halothane"^^xsd:string) AnnotationAssertion( "malignant hyperthermias"^^xsd:string) AnnotationAssertion( "EXERCISE-INDUCED MALIGNANT HYPERTHERMIA"^^xsd:string) AnnotationAssertion( "KING-DENBOROUGH SYNDROME"^^xsd:string) AnnotationAssertion( "MH King syndrome"^^xsd:string) AnnotationAssertion( "Malignant hyperthermia and exertional rhabdomyolosis"^^xsd:string) AnnotationAssertion( "hyperthermia of anesthesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MHS1"^^xsd:string) AnnotationAssertion( "MHS2"^^xsd:string) AnnotationAssertion( "MHS3"^^xsd:string) AnnotationAssertion( "MHS4"^^xsd:string) AnnotationAssertion( "MHS5"^^xsd:string) AnnotationAssertion( "MHS6"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia susceptibility type 2"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia susceptibility type 3"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia susceptibility type 4"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia susceptibility type 5"^^xsd:string) AnnotationAssertion( "malignant hyperpyrexia susceptibility type 6"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 1"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 2"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 3"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 4"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 5"^^xsd:string) AnnotationAssertion( "malignant hyperthermia susceptibility type 6"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "malignant hyperthermia, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "DOID:8545"^^xsd:string) AnnotationAssertion(rdfs:label "malignant hyperthermia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic ulcer of skin) AnnotationAssertion(Annotation( "MESH:D012883"^^xsd:string) "An ULCER of the skin and underlying tissues."^^xsd:string) AnnotationAssertion( "EFO:0007066"^^xsd:string) AnnotationAssertion( "ICD10CM:L98.4"^^xsd:string) AnnotationAssertion( "ICD9CM:707"^^xsd:string) AnnotationAssertion( "MESH:D012883"^^xsd:string) AnnotationAssertion( "callous ulcer"^^xsd:string) AnnotationAssertion( "indolent ulcer"^^xsd:string) AnnotationAssertion( "skin ulcer"^^xsd:string) AnnotationAssertion( "skin ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8549"^^xsd:string) AnnotationAssertion(rdfs:label "chronic ulcer of skin"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic myeloid leukemia) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46755"^^xsd:string) "A myeloid leukemia that is characterized by over production of white blood cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608232"^^xsd:string) AnnotationAssertion( "ABL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ABL1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "EFO:0000339"^^xsd:string) AnnotationAssertion( "EFO:0000340"^^xsd:string) AnnotationAssertion( "GARD:6105"^^xsd:string) AnnotationAssertion( "ICD9CM:205.1"^^xsd:string) AnnotationAssertion( "ICDO:9863/3"^^xsd:string) AnnotationAssertion( "MESH:D015464"^^xsd:string) AnnotationAssertion( "NCI:C3174"^^xsd:string) AnnotationAssertion( "ORDO:521"^^xsd:string) AnnotationAssertion( "CML"^^xsd:string) AnnotationAssertion( "CML - chronic myelogenous leukemia"^^xsd:string) AnnotationAssertion( "Chronic Myeloid Leukemias"^^xsd:string) AnnotationAssertion( "PH1-positive myeloid leukemia"^^xsd:string) AnnotationAssertion( "PH1-positive myeloid leukemias"^^xsd:string) AnnotationAssertion( "Ph1-positive myelogenous leukemia"^^xsd:string) AnnotationAssertion( "Ph1-positive myelogenous leukemias"^^xsd:string) AnnotationAssertion( "Philadelphia-positive myeloid leukemia"^^xsd:string) AnnotationAssertion( "chronic granulocytic leukaemia"^^xsd:string) AnnotationAssertion( "chronic granulocytic leukemia"^^xsd:string) AnnotationAssertion( "chronic granulocytic leukemias"^^xsd:string) AnnotationAssertion( "chronic myelocytic leukemia"^^xsd:string) AnnotationAssertion( "chronic myelocytic leukemias"^^xsd:string) AnnotationAssertion( "chronic myelogenous leukaemia"^^xsd:string) AnnotationAssertion( "chronic myelogenous leukemia"^^xsd:string) AnnotationAssertion( "chronic myelogenous leukemia, BCR-ABL positive"^^xsd:string) AnnotationAssertion( "chronic myelogenous leukemias"^^xsd:string) AnnotationAssertion( "chronic myeloid leukaemia"^^xsd:string) AnnotationAssertion( "CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB"^^xsd:string) AnnotationAssertion( "Philadelphia chromosome-positive leukemia, resistant to imatinib"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8552"^^xsd:string) AnnotationAssertion(rdfs:label "chronic myeloid leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyoderma gangrenosum) AnnotationAssertion(Annotation( "MESH:D017511"^^xsd:string) "An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown."^^xsd:string) AnnotationAssertion( "EFO:0006835"^^xsd:string) AnnotationAssertion( "EFO:0009009"^^xsd:string) AnnotationAssertion( "GARD:7510"^^xsd:string) AnnotationAssertion( "ICD10CM:L88"^^xsd:string) AnnotationAssertion( "ICD9CM:686.01"^^xsd:string) AnnotationAssertion( "MESH:D017511"^^xsd:string) AnnotationAssertion( "PASH syndrome"^^xsd:string) AnnotationAssertion( "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8553"^^xsd:string) AnnotationAssertion(rdfs:label "pyoderma gangrenosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vallecula cancer) AnnotationAssertion( "ICD10CM:C10.0"^^xsd:string) AnnotationAssertion( "ICD9CM:146.3"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363395000"^^xsd:string) "malignant tumor of vallecula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8556"^^xsd:string) AnnotationAssertion(rdfs:label "vallecula cancer"^^xsd:string) SubClassOf( ) # Class: (oropharynx cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=446523"^^xsd:string) "A pharynx cancer that is located_in the oropharynx. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001931"^^xsd:string) AnnotationAssertion( "ICD10CM:C10"^^xsd:string) AnnotationAssertion( "ICD10CM:C10.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C10.3"^^xsd:string) AnnotationAssertion( "ICD10CM:C10.8"^^xsd:string) AnnotationAssertion( "ICD9CM:146"^^xsd:string) AnnotationAssertion( "ICD9CM:146.5"^^xsd:string) AnnotationAssertion( "ICD9CM:146.6"^^xsd:string) AnnotationAssertion( "ICD9CM:146.7"^^xsd:string) AnnotationAssertion( "NCI:C7398"^^xsd:string) AnnotationAssertion( "Oropharnyx Cancer"^^xsd:string) AnnotationAssertion( "Oropharnyx Cancers"^^xsd:string) AnnotationAssertion( "Oropharyngeal Cancers"^^xsd:string) AnnotationAssertion( "cancer of oropharnyx"^^xsd:string) AnnotationAssertion( "cancer of the oropharynx"^^xsd:string) AnnotationAssertion( "malignant neoplasm of oropharynx"^^xsd:string) AnnotationAssertion( "malignant oropharyngeal tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of oropharynx"^^xsd:string) AnnotationAssertion( "malignant tumour of mesopharynx"^^xsd:string) AnnotationAssertion( "oropharyngeal cancer"^^xsd:string) AnnotationAssertion( "oropharyngeal carcinoma"^^xsd:string) AnnotationAssertion( "oropharynx cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8557"^^xsd:string) AnnotationAssertion(rdfs:label "oropharynx cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (biotinidase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241"^^xsd:string) "A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C565365"^^xsd:string) AnnotationAssertion( "MIM:253260"^^xsd:string) AnnotationAssertion( "GARD:894"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.810"^^xsd:string) AnnotationAssertion( "MESH:D028921"^^xsd:string) AnnotationAssertion( "NCI:C84598"^^xsd:string) AnnotationAssertion( "BTD deficiencies"^^xsd:string) AnnotationAssertion( "BTD deficiency"^^xsd:string) AnnotationAssertion( "biotinidase deficiencies"^^xsd:string) AnnotationAssertion( "deficiency of biotinidase"^^xsd:string) AnnotationAssertion( "juvenile-onset multiple carboxylase deficiency"^^xsd:string) AnnotationAssertion( "late onset biotin responsive multiple carboxylase deficiency"^^xsd:string) AnnotationAssertion( "late onset multiple carboxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:856"^^xsd:string) AnnotationAssertion(rdfs:label "biotinidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lip cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001019"^^xsd:string) AnnotationAssertion( "ICD10CM:C00"^^xsd:string) AnnotationAssertion( "ICD9CM:140"^^xsd:string) AnnotationAssertion( "ICD9CM:140.6"^^xsd:string) AnnotationAssertion( "ICD9CM:140.8"^^xsd:string) AnnotationAssertion( "NCI:C7485"^^xsd:string) AnnotationAssertion( "malignant neoplasm of commissure of lip"^^xsd:string) AnnotationAssertion( "malignant neoplasm of external lip, not specified as upper or lower"^^xsd:string) AnnotationAssertion( "malignant neoplasm of labial commissure of lip"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lip"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lip, external"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lip, inner aspect"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lip, vermilion border"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower lip, buccal aspect"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower lip, inner aspect"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower lip, mucosa"^^xsd:string) AnnotationAssertion( "malignant neoplasm of lower lip, oral aspect"^^xsd:string) AnnotationAssertion( "malignant neoplasm of oral aspect of lip, not specified whether upper or lower"^^xsd:string) AnnotationAssertion( "malignant neoplasm of other sites of lip"^^xsd:string) AnnotationAssertion( "malignant neoplasm of vermilion border of lip"^^xsd:string) AnnotationAssertion( "malignant tumor of commissure of lip"^^xsd:string) AnnotationAssertion( "malignant tumor of labial mucosa"^^xsd:string) AnnotationAssertion( "malignant tumor of lip"^^xsd:string) AnnotationAssertion( "malignant tumor of lower labial mucosa"^^xsd:string) AnnotationAssertion( "malignant tumor of the lip"^^xsd:string) AnnotationAssertion( "malignant tumour of labial commissure"^^xsd:string) AnnotationAssertion( "malignant tumour of lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8564"^^xsd:string) AnnotationAssertion(rdfs:label "lip cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (herpes simplex) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Herpes_simplex"^^xsd:string) Annotation( "https://www.aad.org/public/diseases/a-z/herpes-simplex-overview"^^xsd:string) "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009339"^^xsd:string) AnnotationAssertion( "EFO:1002022"^^xsd:string) AnnotationAssertion( "ICD10CM:B00.9"^^xsd:string) AnnotationAssertion( "ICD9CM:054"^^xsd:string) AnnotationAssertion( "MESH:D006561"^^xsd:string) AnnotationAssertion( "NCI:C155871"^^xsd:string) AnnotationAssertion( "Herpesvirus hominis disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Herpes simplex virus 2 seropositivity"^^xsd:string) AnnotationAssertion( "DOID:8566"^^xsd:string) AnnotationAssertion(rdfs:label "herpes simplex"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hodgkin's lymphoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22835602"^^xsd:string) "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236000"^^xsd:string) AnnotationAssertion( "EFO:0000183"^^xsd:string) AnnotationAssertion( "EFO:0000346"^^xsd:string) AnnotationAssertion( "EFO:1000548"^^xsd:string) AnnotationAssertion( "GARD:2714"^^xsd:string) AnnotationAssertion( "ICD10CM:C81"^^xsd:string) AnnotationAssertion( "ICD9CM:201"^^xsd:string) AnnotationAssertion( "MESH:D006689"^^xsd:string) AnnotationAssertion( "NCI:C9357"^^xsd:string) AnnotationAssertion( "ORDO:98293"^^xsd:string) AnnotationAssertion( "CHL"^^xsd:string) AnnotationAssertion( "HL"^^xsd:string) AnnotationAssertion( "Hodgkin disease"^^xsd:string) AnnotationAssertion( "Hodgkin lymphoma"^^xsd:string) AnnotationAssertion( "Hodgkin's Disease"^^xsd:string) AnnotationAssertion( "Hodgkin's sarcoma"^^xsd:string) AnnotationAssertion( "Hodgkins Disease"^^xsd:string) AnnotationAssertion( "Hodgkins Lymphoma"^^xsd:string) AnnotationAssertion( "LYMPHOMA, HODGKIN, CLASSIC"^^xsd:string) AnnotationAssertion( "Lymphocyte Depletion Hodgkin's Lymphoma"^^xsd:string) AnnotationAssertion( "Lymphocyte Rich Classical Hodgkin's Lymphoma"^^xsd:string) AnnotationAssertion( "Malignant Granuloma"^^xsd:string) AnnotationAssertion( "Malignant Granulomas"^^xsd:string) AnnotationAssertion( "adult Hodgkin lymphoma"^^xsd:string) AnnotationAssertion( "malignant lymphogranuloma"^^xsd:string) AnnotationAssertion( "malignant lymphogranulomas"^^xsd:string) AnnotationAssertion( "nodular lymphocyte predominant Hodgkin's lymphoma"^^xsd:string) AnnotationAssertion( "nodular sclerosing Hodgkin's lymphoma"^^xsd:string) AnnotationAssertion( "stage I subdiaphragmatic Hodgkin lymphoma"^^xsd:string) AnnotationAssertion( "stage II subdiaphragmatic Hodgkin lymphoma"^^xsd:string) AnnotationAssertion( "Splenic Hodgkin Lymphoma"^^xsd:string) AnnotationAssertion( "classical Hodgkin's lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8567"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's lymphoma"^^xsd:string) SubClassOf( ) # Class: (infectious mononucleosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Infectious_mononucleosis"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/diseases/ebv.htm"^^xsd:string) "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007326"^^xsd:string) AnnotationAssertion( "ICD10CM:B27"^^xsd:string) AnnotationAssertion( "ICD9CM:075"^^xsd:string) AnnotationAssertion( "MESH:D007244"^^xsd:string) AnnotationAssertion( "NCI:C34726"^^xsd:string) AnnotationAssertion( "Filatov's disease"^^xsd:string) AnnotationAssertion( "Glandular Fever"^^xsd:string) AnnotationAssertion( "Pfeiffer's disease"^^xsd:string) AnnotationAssertion( "gammaherpesviral mononucleosis"^^xsd:string) AnnotationAssertion( "monocytic angina"^^xsd:string) AnnotationAssertion( "mononucleosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8568"^^xsd:string) AnnotationAssertion(rdfs:label "infectious mononucleosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (multiple carboxylase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148"^^xsd:string) "An amino acid metabolic disorder that involves failures of carboxylation enzymes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:3824"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.81"^^xsd:string) AnnotationAssertion( "MESH:D009100"^^xsd:string) AnnotationAssertion( "Combined Carboxylase Deficiency"^^xsd:string) AnnotationAssertion( "combined carboxylase deficiencies"^^xsd:string) AnnotationAssertion( "multiple carboxylase deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:857"^^xsd:string) AnnotationAssertion(rdfs:label "multiple carboxylase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lichen nitidus) AnnotationAssertion(Annotation( "MESH:D017513"^^xsd:string) "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses."^^xsd:string) AnnotationAssertion( "EFO:1000725"^^xsd:string) AnnotationAssertion( "ICD10CM:L44.1"^^xsd:string) AnnotationAssertion( "ICD9CM:697.1"^^xsd:string) AnnotationAssertion( "MESH:D017513"^^xsd:string) AnnotationAssertion( "RDO:0007048"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:697.1"^^xsd:string) "Pinkus' disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8573"^^xsd:string) AnnotationAssertion(rdfs:label "lichen nitidus"^^xsd:string) SubClassOf( ) # Class: (lichen disease) AnnotationAssertion(Annotation( "MESH:D017512"^^xsd:string) "Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)"^^xsd:string) AnnotationAssertion( "EFO:1000724"^^xsd:string) AnnotationAssertion( "ICD10CM:L28.0"^^xsd:string) AnnotationAssertion( "ICD9CM:697.9"^^xsd:string) AnnotationAssertion( "MESH:D017512"^^xsd:string) AnnotationAssertion( "Licheniform Eruption"^^xsd:string) AnnotationAssertion( "Lichenoid Eruption"^^xsd:string) AnnotationAssertion( "licheniform eruptions"^^xsd:string) AnnotationAssertion( "lichenoid eruptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8574"^^xsd:string) AnnotationAssertion(rdfs:label "lichen disease"^^xsd:string) SubClassOf( ) # Class: (ulcerative colitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ulcerative_colitis"^^xsd:string) Annotation( "https://meshb.nlm.nih.gov/record/ui?ui=D003093"^^xsd:string) "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000729"^^xsd:string) AnnotationAssertion( "EFO:0005623"^^xsd:string) AnnotationAssertion( "ICD10CM:K51"^^xsd:string) AnnotationAssertion( "ICD9CM:556"^^xsd:string) AnnotationAssertion( "ICD9CM:556.5"^^xsd:string) AnnotationAssertion( "MESH:D003093"^^xsd:string) AnnotationAssertion( "NCI:C2952"^^xsd:string) AnnotationAssertion( "Idiopathic Proctocolitis"^^xsd:string) AnnotationAssertion( "colitis gravis"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease, ulcerative colitis type"^^xsd:string) AnnotationAssertion( "distal colitis"^^xsd:string) AnnotationAssertion( "left-sided ulcerative colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8577"^^xsd:string) AnnotationAssertion(rdfs:label "ulcerative colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (soft palate cancer) AnnotationAssertion( "ICD10CM:C05.1"^^xsd:string) AnnotationAssertion( "ICD9CM:145.3"^^xsd:string) AnnotationAssertion( "NCI:C3529"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363388009"^^xsd:string) "malignant tumor of soft palate"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3529"^^xsd:string) "malignant tumor of the soft Palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8578"^^xsd:string) AnnotationAssertion(rdfs:label "soft palate cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Burkitt lymphoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45203"^^xsd:string) "A mature B-cell neoplasm of B-cells found in the germinal center. (DO)"^^xsd:string) AnnotationAssertion( "MIM:113970"^^xsd:string) AnnotationAssertion( "EFO:0000309"^^xsd:string) AnnotationAssertion( "EFO:1000182"^^xsd:string) AnnotationAssertion( "EFO:1000533"^^xsd:string) AnnotationAssertion( "EFO:1001954"^^xsd:string) AnnotationAssertion( "GARD:5973"^^xsd:string) AnnotationAssertion( "ICD10CM:C83.7"^^xsd:string) AnnotationAssertion( "ICD9CM:200.2"^^xsd:string) AnnotationAssertion( "ICDO:9687/3"^^xsd:string) AnnotationAssertion( "MESH:D002051"^^xsd:string) AnnotationAssertion( "NCI:C2912"^^xsd:string) AnnotationAssertion( "NCI:C7400"^^xsd:string) AnnotationAssertion( "ORDO:543"^^xsd:string) AnnotationAssertion( "African lymphoma"^^xsd:string) AnnotationAssertion( "BL"^^xsd:string) AnnotationAssertion( "Burkitt Cell Leukemia"^^xsd:string) AnnotationAssertion( "Burkitt Leukemia"^^xsd:string) AnnotationAssertion( "Burkitt Tumor"^^xsd:string) AnnotationAssertion( "Burkitt lymphoma/leukaemia"^^xsd:string) AnnotationAssertion( "Burkitt's Leukemia"^^xsd:string) AnnotationAssertion( "Burkitt's Lymphoma"^^xsd:string) AnnotationAssertion( "Burkitt's Tumor"^^xsd:string) AnnotationAssertion( "Burkitt's tumor or lymphoma"^^xsd:string) AnnotationAssertion( "Burkitts Leukemia"^^xsd:string) AnnotationAssertion( "Burkitts Lymphoma"^^xsd:string) AnnotationAssertion( "Burkitts Tumor"^^xsd:string) AnnotationAssertion( "L3 Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "L3 lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "lymphoblastic leukemia, Burkitt-type"^^xsd:string) AnnotationAssertion( "malignant lymphoma, Burkitt's type"^^xsd:string) AnnotationAssertion( "small non-cleaved cell lymphoma, Burkitt's type"^^xsd:string) AnnotationAssertion( "Colon Burkitt Lymphoma"^^xsd:string) AnnotationAssertion( "Epstein-Barr virus-related Burkitts lymphoma"^^xsd:string) AnnotationAssertion( "Small Intestinal Burkitt Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8584"^^xsd:string) AnnotationAssertion(rdfs:label "Burkitt lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (holocarboxylase synthetase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency"^^xsd:string) "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:253270"^^xsd:string) AnnotationAssertion( "GARD:2721"^^xsd:string) AnnotationAssertion( "ICD10CM:D81.818"^^xsd:string) AnnotationAssertion( "MESH:D028922"^^xsd:string) AnnotationAssertion( "NCI:C98842"^^xsd:string) AnnotationAssertion( "NCI:C99247"^^xsd:string) AnnotationAssertion( "Early Onset Biotin Responsive Multiple Carboxylase Deficiency"^^xsd:string) AnnotationAssertion( "Early Onset Combined Carboxylase Deficiency"^^xsd:string) AnnotationAssertion( "HLCS Deficiencies"^^xsd:string) AnnotationAssertion( "HLCS Deficiency"^^xsd:string) AnnotationAssertion( "Holocarboxylase Synthetase Deficiencies"^^xsd:string) AnnotationAssertion( "Infantile Multiple Carboxylase Deficiency"^^xsd:string) AnnotationAssertion( "Multiple Carboxylase Deficiency, Early Onset"^^xsd:string) AnnotationAssertion( "Multiple Carboxylase Deficiency, Neonatal Form"^^xsd:string) AnnotationAssertion( "biotin-(propionyl-CoA-carboxylase) ligase deficiency"^^xsd:string) AnnotationAssertion( "multiple carboxylase deficiency - neonatal onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:859"^^xsd:string) AnnotationAssertion(rdfs:label "holocarboxylase synthetase deficiency"^^xsd:string) SubClassOf( ) # Class: (acute vascular insufficiency of intestine) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:557.0"^^xsd:string) AnnotationAssertion( "NCI:C34356"^^xsd:string) AnnotationAssertion( "RDO:9004392"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:155766009"^^xsd:string) "acute GIT vascular insuffic."^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:266519001"^^xsd:string) "acute gastrointestinal tract vascular insuffic."^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C34356"^^xsd:string) "acute intestinal Ischemia"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:196998009"^^xsd:string) "acute intestinal vascular insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8590"^^xsd:string) AnnotationAssertion(rdfs:label "acute vascular insufficiency of intestine"^^xsd:string) SubClassOf( ) # Class: (chronic monocytic leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C93.1"^^xsd:string) AnnotationAssertion( "ICD9CM:206.1"^^xsd:string) AnnotationAssertion( "NCI:C34774"^^xsd:string) AnnotationAssertion( "RDO:9002325"^^xsd:string) AnnotationAssertion( "chronic monocytic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8593"^^xsd:string) AnnotationAssertion(rdfs:label "chronic monocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (scarlet fever) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever"^^xsd:string) "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007477"^^xsd:string) AnnotationAssertion( "ICD10CM:A38"^^xsd:string) AnnotationAssertion( "ICD9CM:034"^^xsd:string) AnnotationAssertion( "ICD9CM:034.1"^^xsd:string) AnnotationAssertion( "MESH:D012541"^^xsd:string) AnnotationAssertion( "NCI:C94575"^^xsd:string) AnnotationAssertion( "scarlatina"^^xsd:string) AnnotationAssertion( "scarlet fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8596"^^xsd:string) AnnotationAssertion(rdfs:label "scarlet fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (upper gum cancer) AnnotationAssertion( "ICD10CM:C03.0"^^xsd:string) AnnotationAssertion( "ICD9CM:143.0"^^xsd:string) AnnotationAssertion( "malignant tumor of upper gingiva"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:94114005"^^xsd:string) "malignant tumour of upper gum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8601"^^xsd:string) AnnotationAssertion(rdfs:label "upper gum cancer"^^xsd:string) SubClassOf( ) # Class: (gum cancer) AnnotationAssertion( "EFO:0005557"^^xsd:string) AnnotationAssertion( "ICD10CM:C03"^^xsd:string) AnnotationAssertion( "ICD9CM:143"^^xsd:string) AnnotationAssertion( "NCI:C9317"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9317"^^xsd:string) "malignant Gingival tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of gum"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187650006"^^xsd:string) "malignant neoplasm of other sites of gum"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363382005"^^xsd:string) "malignant tumor of gum"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93819009"^^xsd:string) "malignant tumour of gingiva"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8602"^^xsd:string) AnnotationAssertion(rdfs:label "gum cancer"^^xsd:string) SubClassOf( ) # Class: (herpetic whitlow) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Herpetic_whitlow"^^xsd:string) "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:054.6"^^xsd:string) AnnotationAssertion( "NCI:C128402"^^xsd:string) AnnotationAssertion( "RDO:9002365"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:054.6"^^xsd:string) "Herpetic felon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8607"^^xsd:string) AnnotationAssertion(rdfs:label "herpetic whitlow"^^xsd:string) SubClassOf( ) # Class: (Peyronie's disease) AnnotationAssertion(Annotation( "MESH:D010411"^^xsd:string) "A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both."^^xsd:string) AnnotationAssertion( "MIM:171000"^^xsd:string) AnnotationAssertion( "EFO:1000466"^^xsd:string) AnnotationAssertion( "GARD:7379"^^xsd:string) AnnotationAssertion( "ICD10CM:N48.6"^^xsd:string) AnnotationAssertion( "ICD9CM:607.85"^^xsd:string) AnnotationAssertion( "MESH:D010411"^^xsd:string) AnnotationAssertion( "NCI:C3316"^^xsd:string) AnnotationAssertion( "Penile Fibromatosis"^^xsd:string) AnnotationAssertion( "Peyronie Disease"^^xsd:string) AnnotationAssertion( "Peyronie's fibromatosis"^^xsd:string) AnnotationAssertion( "Peyronies disease"^^xsd:string) AnnotationAssertion( "fibrous cavernitides"^^xsd:string) AnnotationAssertion( "fibrous cavernitis"^^xsd:string) AnnotationAssertion( "induratio penis plastica"^^xsd:string) AnnotationAssertion( "penile induration"^^xsd:string) AnnotationAssertion( "plastic induration of the penis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8616"^^xsd:string) AnnotationAssertion(rdfs:label "Peyronie's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (oral cavity cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Oral_cancer"^^xsd:string) "A gastrointestinal system cancer that is located_in the oral cavity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005570"^^xsd:string) AnnotationAssertion( "GARD:9360"^^xsd:string) AnnotationAssertion( "ICD10CM:C04"^^xsd:string) AnnotationAssertion( "ICD10CM:C04.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C04.1"^^xsd:string) AnnotationAssertion( "ICD9CM:144"^^xsd:string) AnnotationAssertion( "ICD9CM:144.0"^^xsd:string) AnnotationAssertion( "ICD9CM:144.1"^^xsd:string) AnnotationAssertion( "NCI:C9318"^^xsd:string) AnnotationAssertion( "malignant neoplasm of floor of mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8618"^^xsd:string) AnnotationAssertion(rdfs:label "oral cavity cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (recurrent hypersomnia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypersomnia"^^xsd:string) "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005246"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.13"^^xsd:string) AnnotationAssertion( "ICD9CM:327.13"^^xsd:string) AnnotationAssertion( "MESH:D006970"^^xsd:string) AnnotationAssertion( "DOES (Disorders of Excessive Somnolence)"^^xsd:string) AnnotationAssertion( "Excessive Somnolence Disorder"^^xsd:string) AnnotationAssertion( "Hypersomnia"^^xsd:string) AnnotationAssertion( "Hypersomnias"^^xsd:string) AnnotationAssertion( "Hypersomnolence"^^xsd:string) AnnotationAssertion( "Hypersomnolence Disorder"^^xsd:string) AnnotationAssertion( "Hypersomnolence Disorders"^^xsd:string) AnnotationAssertion( "Primary Hypersomnolence Disorder"^^xsd:string) AnnotationAssertion( "Primary Hypersomnolence Disorders"^^xsd:string) AnnotationAssertion( "Recurrent Hypersomnias"^^xsd:string) AnnotationAssertion( "disorders of excessive somnolence"^^xsd:string) AnnotationAssertion( "excessive somnolence disorders"^^xsd:string) AnnotationAssertion( "primary recurrent hypersomnia"^^xsd:string) AnnotationAssertion( "secondary hypersomnolence disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8619"^^xsd:string) AnnotationAssertion(rdfs:label "recurrent hypersomnia"^^xsd:string) SubClassOf( ) # Class: (diplegia of upper limb) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G83.0"^^xsd:string) AnnotationAssertion( "ICD9CM:344.2"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:54099005"^^xsd:string) "Diplegia of upper limbs"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:344.2"^^xsd:string) "Diplegia, upper"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:862"^^xsd:string) AnnotationAssertion(rdfs:label "diplegia of upper limb"^^xsd:string) SubClassOf( ) # Class: (measles) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Measles"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002025"^^xsd:string) AnnotationAssertion( "GARD:3434"^^xsd:string) AnnotationAssertion( "ICD10CM:B05"^^xsd:string) AnnotationAssertion( "ICD9CM:055"^^xsd:string) AnnotationAssertion( "MESH:D008457"^^xsd:string) AnnotationAssertion( "NCI:C96406"^^xsd:string) AnnotationAssertion( "morbilli"^^xsd:string) AnnotationAssertion( "rubeola"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8622"^^xsd:string) AnnotationAssertion(rdfs:label "measles"^^xsd:string) SubClassOf( ) # Class: (Hodgkin's lymphoma, lymphocytic depletion) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C81.3"^^xsd:string) AnnotationAssertion( "ICD9CM:201.7"^^xsd:string) AnnotationAssertion( "NCI:C9283"^^xsd:string) AnnotationAssertion( "RDO:9004175"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:112687003"^^xsd:string) "Hodgkin lymphoma, lymphocyte depletion"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:118610003"^^xsd:string) "Hodgkin's disease, lymphocytic depletion"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:188584004"^^xsd:string) "Hodgkin's lymphocytic depletion of unspecified site"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9283"^^xsd:string) "Lymphocyte-Depleted Classical Hodgkin Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8628"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's lymphoma, lymphocytic depletion"^^xsd:string) SubClassOf( ) # Class: (nervous system disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nervous_system"^^xsd:string) "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000618"^^xsd:string) AnnotationAssertion( "ICD9CM:349.9"^^xsd:string) AnnotationAssertion( "MESH:D009422"^^xsd:string) AnnotationAssertion( "NCI:C26835"^^xsd:string) AnnotationAssertion( "nervous system diseases"^^xsd:string) AnnotationAssertion( "nervous system disorder"^^xsd:string) AnnotationAssertion( "nervous system disorders"^^xsd:string) AnnotationAssertion( "neurologic disorder"^^xsd:string) AnnotationAssertion( "neurologic disorders"^^xsd:string) AnnotationAssertion( "neurological disorder"^^xsd:string) AnnotationAssertion( "neurological disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:863"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "nervous system disease"^^xsd:string) SubClassOf( ) # Class: (upper lip cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C00.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C00.3"^^xsd:string) AnnotationAssertion( "ICD9CM:140.0"^^xsd:string) AnnotationAssertion( "ICD9CM:140.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8630"^^xsd:string) AnnotationAssertion(rdfs:label "upper lip cancer"^^xsd:string) SubClassOf( ) # Class: (Kaposi's sarcoma) AnnotationAssertion(Annotation( "http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma"^^xsd:string) "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). (DO)"^^xsd:string) AnnotationAssertion( "MIM:148000"^^xsd:string) AnnotationAssertion( "EFO:0000558"^^xsd:string) AnnotationAssertion( "EFO:0002613"^^xsd:string) AnnotationAssertion( "GARD:6814"^^xsd:string) AnnotationAssertion( "ICD10CM:C46"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.1"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.3"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.4"^^xsd:string) AnnotationAssertion( "ICD10CM:C46.5"^^xsd:string) AnnotationAssertion( "ICD9CM:176"^^xsd:string) AnnotationAssertion( "ICD9CM:176.0"^^xsd:string) AnnotationAssertion( "ICD9CM:176.1"^^xsd:string) AnnotationAssertion( "ICD9CM:176.2"^^xsd:string) AnnotationAssertion( "ICD9CM:176.3"^^xsd:string) AnnotationAssertion( "ICD9CM:176.4"^^xsd:string) AnnotationAssertion( "ICD9CM:176.5"^^xsd:string) AnnotationAssertion( "MESH:D012514"^^xsd:string) AnnotationAssertion( "MONDO:0005055"^^xsd:string) AnnotationAssertion( "NCI:C27500"^^xsd:string) AnnotationAssertion( "NCI:C3550"^^xsd:string) AnnotationAssertion( "NCI:C3551"^^xsd:string) AnnotationAssertion( "NCI:C4578"^^xsd:string) AnnotationAssertion( "NCI:C4579"^^xsd:string) AnnotationAssertion( "NCI:C5363"^^xsd:string) AnnotationAssertion( "NCI:C5523"^^xsd:string) AnnotationAssertion( "NCI:C5529"^^xsd:string) AnnotationAssertion( "NCI:C5602"^^xsd:string) AnnotationAssertion( "NCI:C5706"^^xsd:string) AnnotationAssertion( "NCI:C5842"^^xsd:string) AnnotationAssertion( "NCI:C6377"^^xsd:string) AnnotationAssertion( "NCI:C6749"^^xsd:string) AnnotationAssertion( "NCI:C7006"^^xsd:string) AnnotationAssertion( "NCI:C9087"^^xsd:string) AnnotationAssertion( "Kaposi sarcoma"^^xsd:string) AnnotationAssertion( "Kaposis sarcoma"^^xsd:string) AnnotationAssertion( "multiple idiopathic pigmented hemangiosarcoma"^^xsd:string) AnnotationAssertion( "African lymphadenopathic Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of anus"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of central nervous system"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of conjunctiva"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of cornea"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of esophagus"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of gastrointestinal sites"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of heart"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of lung"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of lymph nodes"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of palate"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of penis"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of skin"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of soft tissue"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of soft tissues"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of the CNS"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of the gallbladder"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma of the prostate"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma, lung"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma, skin"^^xsd:string) AnnotationAssertion( "MCD"^^xsd:string) AnnotationAssertion( "anal Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "cardiac Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "central nervous system Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "conjunctival Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "corneal Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "cutaneous Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "esophageal Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "gallbladder Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "gastric Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "iatrogenic Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "intestinal Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "lymph node Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "lymphadenopathic Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "palate Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "penis Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "prostate Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "pulmonary Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "soft tissue Kaposi's sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Kaposi sarcoma, susceptibility to"^^xsd:string) AnnotationAssertion( "Kaposi's sarcoma-associated herpesvirus (KSHV)"^^xsd:string) AnnotationAssertion( "MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:8632"^^xsd:string) AnnotationAssertion(rdfs:label "Kaposi's sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic intestinal vascular insufficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:557.1"^^xsd:string) AnnotationAssertion( "CMI - chronic mesenteric ischaemia"^^xsd:string) AnnotationAssertion( "chronic mesenteric ischemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8633"^^xsd:string) AnnotationAssertion(rdfs:label "chronic intestinal vascular insufficiency"^^xsd:string) SubClassOf( ) # Class: (prostate carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25046199"^^xsd:string) "An in situ carcinoma that is located_in the prostate. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0002621"^^xsd:string) AnnotationAssertion( "EFO:1000283"^^xsd:string) AnnotationAssertion( "ICD10CM:D07.5"^^xsd:string) AnnotationAssertion( "ICD9CM:233.4"^^xsd:string) AnnotationAssertion( "MESH:D019048"^^xsd:string) AnnotationAssertion( "NCI:C3642"^^xsd:string) AnnotationAssertion( "Intraepithelial Prostatic Neoplasias"^^xsd:string) AnnotationAssertion( "Prostatic Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "Prostatic Intraepithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Prostatic Intraepithelial Neoplasms"^^xsd:string) AnnotationAssertion( "carcinoma in situ of prostate"^^xsd:string) AnnotationAssertion( "Grade III Prostatic Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "PIN III"^^xsd:string) AnnotationAssertion( "grade III PIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8634"^^xsd:string) AnnotationAssertion(rdfs:label "prostate carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uvula cancer) AnnotationAssertion( "ICD10CM:C05.2"^^xsd:string) AnnotationAssertion( "ICD9CM:145.4"^^xsd:string) AnnotationAssertion( "NCI:C35177"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35177"^^xsd:string) "malignant Uvular tumor"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363389001"^^xsd:string) "malignant tumor of uvula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8635"^^xsd:string) AnnotationAssertion(rdfs:label "uvula cancer"^^xsd:string) SubClassOf( ) # Class: (phlebitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phlebitis"^^xsd:string) "A vein disease that is characterized by inflammation of a vein. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001395"^^xsd:string) AnnotationAssertion( "ICD10CM:I80"^^xsd:string) AnnotationAssertion( "MESH:D010689"^^xsd:string) AnnotationAssertion( "NCI:C38003"^^xsd:string) AnnotationAssertion( "periphlebitides"^^xsd:string) AnnotationAssertion( "periphlebitis"^^xsd:string) AnnotationAssertion( "phlebitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:864"^^xsd:string) AnnotationAssertion(rdfs:label "phlebitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hodgkin's paragranuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004176"^^xsd:string) AnnotationAssertion( "Hodgkin paragranuloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8642"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's paragranuloma"^^xsd:string) SubClassOf( ) # Class: (duodenitis) AnnotationAssertion(Annotation( "MESH:D004382"^^xsd:string) "Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER."^^xsd:string) AnnotationAssertion( "ICD10CM:K29.8"^^xsd:string) AnnotationAssertion( "ICD9CM:535.6"^^xsd:string) AnnotationAssertion( "MESH:D004382"^^xsd:string) AnnotationAssertion( "NCI:C94409"^^xsd:string) AnnotationAssertion( "Erosive Duodenitis"^^xsd:string) AnnotationAssertion( "hemorrhagic duodenitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8643"^^xsd:string) AnnotationAssertion(rdfs:label "duodenitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastroduodenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:535.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8644"^^xsd:string) AnnotationAssertion(rdfs:label "gastroduodenitis"^^xsd:string) SubClassOf( ) # Class: (subacute delirium) AnnotationAssertion(Annotation( "MESH:D003693"^^xsd:string) "A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)"^^xsd:string) AnnotationAssertion( "EFO:0009267"^^xsd:string) AnnotationAssertion( "ICD9CM:293.1"^^xsd:string) AnnotationAssertion( "MESH:D003693"^^xsd:string) AnnotationAssertion( "Delirium of Mixed Origin"^^xsd:string) AnnotationAssertion( "Mixed Origin Delirium"^^xsd:string) AnnotationAssertion( "delirium"^^xsd:string) AnnotationAssertion( "mixed origin deliriums"^^xsd:string) AnnotationAssertion( "subacute deliriums"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8645"^^xsd:string) AnnotationAssertion(rdfs:label "subacute delirium"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (substance-induced psychosis) AnnotationAssertion(Annotation( "MESH:D011605"^^xsd:string) "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance."^^xsd:string) AnnotationAssertion( "ICD9CM:293.89"^^xsd:string) AnnotationAssertion( "MESH:D011605"^^xsd:string) AnnotationAssertion( "RDO:0006434"^^xsd:string) AnnotationAssertion( "Drug Psychoses"^^xsd:string) AnnotationAssertion( "Toxic Psychoses"^^xsd:string) AnnotationAssertion( "substance-induced psychoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8646"^^xsd:string) AnnotationAssertion(rdfs:label "substance-induced psychosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tongue cancer) AnnotationAssertion(Annotation( "MESH:D014062"^^xsd:string) "Tumors or cancer of the TONGUE."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "GARD:7779"^^xsd:string) AnnotationAssertion( "ICD10CM:C01"^^xsd:string) AnnotationAssertion( "ICD10CM:C02.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C02.1"^^xsd:string) AnnotationAssertion( "ICD10CM:C02.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C02.4"^^xsd:string) AnnotationAssertion( "ICD10CM:C02.9"^^xsd:string) AnnotationAssertion( "ICD9CM:141"^^xsd:string) AnnotationAssertion( "ICD9CM:141.0"^^xsd:string) AnnotationAssertion( "ICD9CM:141.1"^^xsd:string) AnnotationAssertion( "ICD9CM:141.2"^^xsd:string) AnnotationAssertion( "ICD9CM:141.3"^^xsd:string) AnnotationAssertion( "ICD9CM:141.5"^^xsd:string) AnnotationAssertion( "ICD9CM:141.6"^^xsd:string) AnnotationAssertion( "NCI:C3524"^^xsd:string) AnnotationAssertion( "NCI:C9345"^^xsd:string) AnnotationAssertion( "cancer of tongue"^^xsd:string) AnnotationAssertion( "malignant neoplasm of tongue"^^xsd:string) AnnotationAssertion( "malignant tongue neoplasm"^^xsd:string) AnnotationAssertion( "malignant tumor of tongue"^^xsd:string) AnnotationAssertion( "tongue cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8649"^^xsd:string) AnnotationAssertion(rdfs:label "tongue cancer"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (vasculitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vasculitis"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/vas/"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/vasculitis.html"^^xsd:string) "A vascular disease that is characterized by inflammation of the blood vessels. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006803"^^xsd:string) AnnotationAssertion( "GARD:9565"^^xsd:string) AnnotationAssertion( "MESH:D014657"^^xsd:string) AnnotationAssertion( "NCI:C26912"^^xsd:string) AnnotationAssertion( "Angiitides"^^xsd:string) AnnotationAssertion( "Angiitis"^^xsd:string) AnnotationAssertion( "Vasculitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:865"^^xsd:string) AnnotationAssertion(rdfs:label "vasculitis"^^xsd:string) SubClassOf( ) # Class: (Hodgkin's granuloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "Hodgkin granuloma"^^xsd:string) AnnotationAssertion( "Hodgkins granuloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8651"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's granuloma"^^xsd:string) SubClassOf( ) # Class: (Hodgkin's lymphoma, mixed cellularity) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1002031"^^xsd:string) AnnotationAssertion( "ICD10CM:C81.2"^^xsd:string) AnnotationAssertion( "ICD9CM:201.6"^^xsd:string) AnnotationAssertion( "NCI:C3517"^^xsd:string) AnnotationAssertion( "RDO:9004180"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:41529000"^^xsd:string) "Hodgkin lymphoma, mixed cellularity"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3517"^^xsd:string) "MCHL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hodgkin's disease, mixed cellularity"^^xsd:string) AnnotationAssertion( "DOID:8654"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's lymphoma, mixed cellularity"^^xsd:string) SubClassOf( ) # Class: (chickenpox) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/chickenpox.html"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007204"^^xsd:string) AnnotationAssertion( "ICD10CM:B01.9"^^xsd:string) AnnotationAssertion( "ICD9CM:052"^^xsd:string) AnnotationAssertion( "MESH:D002644"^^xsd:string) AnnotationAssertion( "NCI:C97132"^^xsd:string) AnnotationAssertion( "chicken pox"^^xsd:string) AnnotationAssertion( "varicella"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8659"^^xsd:string) AnnotationAssertion(rdfs:label "chickenpox"^^xsd:string) SubClassOf( ) # Class: (vein disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vein#Venous_diseases"^^xsd:string) "A vascular disease that is located_in a vein. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I82"^^xsd:string) AnnotationAssertion( "ICD9CM:453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:866"^^xsd:string) AnnotationAssertion(rdfs:label "vein disease"^^xsd:string) SubClassOf( ) # Class: (postcricoid region cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C13.0"^^xsd:string) AnnotationAssertion( "ICD9CM:148.0"^^xsd:string) AnnotationAssertion( "NCI:C9323"^^xsd:string) AnnotationAssertion( "malignant postcricoid tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of pharyngoesophageal junction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8660"^^xsd:string) AnnotationAssertion(rdfs:label "postcricoid region cancer"^^xsd:string) SubClassOf( ) # Class: (lip carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/"^^xsd:string) "An oral cavity carcinoma in situ that is located_in the lip. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D00.0"^^xsd:string) AnnotationAssertion( "ICD9CM:230.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8661"^^xsd:string) AnnotationAssertion(rdfs:label "lip carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (aryepiglottic fold cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C13.1"^^xsd:string) AnnotationAssertion( "ICD9CM:148.2"^^xsd:string) AnnotationAssertion( "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold"^^xsd:string) AnnotationAssertion( "malignant tumor aryepiglottic fold - hypopharyngeal aspect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8663"^^xsd:string) AnnotationAssertion(rdfs:label "aryepiglottic fold cancer"^^xsd:string) SubClassOf( ) # Class: (maxillary sinus cholesteatoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1503726"^^xsd:string) "A cholesteatoma located_in paranasal sinus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000731"^^xsd:string) AnnotationAssertion( "NCI:C35868"^^xsd:string) AnnotationAssertion( "RDO:9003151"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:867"^^xsd:string) AnnotationAssertion(rdfs:label "maxillary sinus cholesteatoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eating disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Eating_disorder"^^xsd:string) "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005203"^^xsd:string) AnnotationAssertion( "ICD10CM:F50"^^xsd:string) AnnotationAssertion( "ICD9CM:307.50"^^xsd:string) AnnotationAssertion( "MESH:D001068"^^xsd:string) AnnotationAssertion( "NCI:C89332"^^xsd:string) AnnotationAssertion( "Appetite Disorder"^^xsd:string) AnnotationAssertion( "Eating Disorders"^^xsd:string) AnnotationAssertion( "Feeding Disorder"^^xsd:string) AnnotationAssertion( "Feeding and Eating Disorders"^^xsd:string) AnnotationAssertion( "appetite disorders"^^xsd:string) AnnotationAssertion( "feeding disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8670"^^xsd:string) AnnotationAssertion(rdfs:label "eating disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (viral exanthem) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000776"^^xsd:string) AnnotationAssertion( "ICD9CM:057.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8672"^^xsd:string) AnnotationAssertion(rdfs:label "viral exanthem"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perinatal necrotizing enterocolitis) AnnotationAssertion(Annotation( "MESH:D020345"^^xsd:string) "ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT."^^xsd:string) AnnotationAssertion( "EFO:0003928"^^xsd:string) AnnotationAssertion( "ICD10CM:K55.3"^^xsd:string) AnnotationAssertion( "ICD10CM:K55.30"^^xsd:string) AnnotationAssertion( "MESH:D020345"^^xsd:string) AnnotationAssertion( "NEC"^^xsd:string) AnnotationAssertion( "necrotizing enterocolitis"^^xsd:string) AnnotationAssertion( "necrotizing enterocolitis in fetus or newborn"^^xsd:string) AnnotationAssertion( "perinatal necrotising enterocolitis"^^xsd:string) AnnotationAssertion( "pseudomembranous enterocolitis in newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8677"^^xsd:string) AnnotationAssertion(rdfs:label "perinatal necrotizing enterocolitis"^^xsd:string) SubClassOf( ) # Class: (alcoholic gastritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K29.2"^^xsd:string) AnnotationAssertion( "ICD9CM:535.3"^^xsd:string) AnnotationAssertion( "NCI:C26977"^^xsd:string) AnnotationAssertion( "Alcoholic gastritis, with hemorrhage"^^xsd:string) AnnotationAssertion( "Alcoholic gastritis, without mention of hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8680"^^xsd:string) AnnotationAssertion(rdfs:label "alcoholic gastritis"^^xsd:string) SubClassOf( ) # Class: (paraneoplastic polyneuropathy) AnnotationAssertion(Annotation( "MESH:D020364"^^xsd:string) "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)"^^xsd:string) AnnotationAssertion( "RDO:9002725"^^xsd:string) AnnotationAssertion( "EFO:1001085"^^xsd:string) AnnotationAssertion( "ICD9CM:357.3"^^xsd:string) AnnotationAssertion( "MESH:D020364"^^xsd:string) AnnotationAssertion( "NCI:C3981"^^xsd:string) AnnotationAssertion( "RDO:0007402"^^xsd:string) AnnotationAssertion( "Paraneoplastic Neuropathies"^^xsd:string) AnnotationAssertion( "Paraneoplastic Neuropathy"^^xsd:string) AnnotationAssertion( "Paraneoplastic Peripheral Neuropathies"^^xsd:string) AnnotationAssertion( "Paraneoplastic Peripheral Neuropathy"^^xsd:string) AnnotationAssertion( "Paraneoplastic Polyneuropathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8681"^^xsd:string) AnnotationAssertion(rdfs:label "paraneoplastic polyneuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (myeloid sarcoma) AnnotationAssertion(Annotation( "MESH:D023981"^^xsd:string) "An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA."^^xsd:string) AnnotationAssertion( "EFO:1001052"^^xsd:string) AnnotationAssertion( "GARD:12763"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.3"^^xsd:string) AnnotationAssertion( "ICDO:9930/3"^^xsd:string) AnnotationAssertion( "MESH:D023981"^^xsd:string) AnnotationAssertion( "NCI:C3520"^^xsd:string) AnnotationAssertion( "NCI:C35815"^^xsd:string) AnnotationAssertion( "Chloroma"^^xsd:string) AnnotationAssertion( "Extramedullary Myeloid Cell Tumor"^^xsd:string) AnnotationAssertion( "Granulocytic Sarcoma"^^xsd:string) AnnotationAssertion( "Granulocytic Sarcomas"^^xsd:string) AnnotationAssertion( "chloromas"^^xsd:string) AnnotationAssertion( "extramedullary myeloid tumor"^^xsd:string) AnnotationAssertion( "myeloid sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8683"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (skin carcinoma in situ) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string) "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D04"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.0"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.2"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.3"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.4"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.6"^^xsd:string) AnnotationAssertion( "ICD10CM:D04.7"^^xsd:string) AnnotationAssertion( "ICD9CM:232"^^xsd:string) AnnotationAssertion( "ICD9CM:232.0"^^xsd:string) AnnotationAssertion( "ICD9CM:232.2"^^xsd:string) AnnotationAssertion( "ICD9CM:232.3"^^xsd:string) AnnotationAssertion( "ICD9CM:232.4"^^xsd:string) AnnotationAssertion( "ICD9CM:232.5"^^xsd:string) AnnotationAssertion( "ICD9CM:232.6"^^xsd:string) AnnotationAssertion( "ICD9CM:232.7"^^xsd:string) AnnotationAssertion( "MONDO:0004641"^^xsd:string) AnnotationAssertion( "NCI:C3640"^^xsd:string) AnnotationAssertion( "carcinoma in situ of skin"^^xsd:string) AnnotationAssertion( "cutaneous carcinoma in situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8687"^^xsd:string) AnnotationAssertion(rdfs:label "skin carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tonsillar pillar cancer) AnnotationAssertion( "ICD10CM:C09.1"^^xsd:string) AnnotationAssertion( "ICD9CM:146.2"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:94103007"^^xsd:string) "malignant neoplasm of tonsillar pillar"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:146.2"^^xsd:string) "malignant neoplasm of tonsillar pillars, posterior"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:187675005"^^xsd:string) "malignant tumor of tonsillar pillar"^^xsd:string) AnnotationAssertion( "malignant tumour of tonsillar pillar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8688"^^xsd:string) AnnotationAssertion(rdfs:label "tonsillar pillar cancer"^^xsd:string) SubClassOf( ) # Class: (anorexia nervosa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Anorexia_nervosa"^^xsd:string) "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. (DO)"^^xsd:string) AnnotationAssertion( "MIM:606788"^^xsd:string) AnnotationAssertion( "EFO:0004215"^^xsd:string) AnnotationAssertion( "ICD10CM:F50.0"^^xsd:string) AnnotationAssertion( "ICD9CM:307.1"^^xsd:string) AnnotationAssertion( "MESH:D000856"^^xsd:string) AnnotationAssertion( "MONDO:0005351"^^xsd:string) AnnotationAssertion( "NCI:C34387"^^xsd:string) AnnotationAssertion( "AN"^^xsd:string) AnnotationAssertion( "ANON"^^xsd:string) AnnotationAssertion( "ANON1"^^xsd:string) AnnotationAssertion( "Anorexia Nervosas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANOREXIA NERVOSA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:8689"^^xsd:string) AnnotationAssertion(rdfs:label "anorexia nervosa"^^xsd:string) SubClassOf( ) # Class: (cholesteatoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cholesteatoma"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26223725"^^xsd:string) "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000675"^^xsd:string) AnnotationAssertion( "GARD:10422"^^xsd:string) AnnotationAssertion( "ICD10CM:H71.9"^^xsd:string) AnnotationAssertion( "ICD9CM:385.30"^^xsd:string) AnnotationAssertion( "MESH:D002781"^^xsd:string) AnnotationAssertion( "NCI:C2944"^^xsd:string) AnnotationAssertion( "cholesteatomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:869"^^xsd:string) AnnotationAssertion(rdfs:label "cholesteatoma"^^xsd:string) SubClassOf( ) # Class: (mycosis fungoides) AnnotationAssertion(Annotation( "MESH:D009182"^^xsd:string) "A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected."^^xsd:string) AnnotationAssertion( "MIM:254400"^^xsd:string) AnnotationAssertion( "EFO:1001051"^^xsd:string) AnnotationAssertion( "GARD:3863"^^xsd:string) AnnotationAssertion( "ICD10CM:C84.0"^^xsd:string) AnnotationAssertion( "ICD9CM:202.1"^^xsd:string) AnnotationAssertion( "ICDO:9700/3"^^xsd:string) AnnotationAssertion( "MESH:D009182"^^xsd:string) AnnotationAssertion( "NCI:C3246"^^xsd:string) AnnotationAssertion( "MF"^^xsd:string) AnnotationAssertion( "mycosis fungoides lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8691"^^xsd:string) AnnotationAssertion(rdfs:label "mycosis fungoides"^^xsd:string) SubClassOf( ) # Class: (myeloid leukemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Myeloid_leukemia"^^xsd:string) "A leukemia that is located_in myeloid tissue. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001573"^^xsd:string) AnnotationAssertion( "GARD:8226"^^xsd:string) AnnotationAssertion( "ICD10CM:C92"^^xsd:string) AnnotationAssertion( "ICD9CM:205"^^xsd:string) AnnotationAssertion( "ICDO:9860/3"^^xsd:string) AnnotationAssertion( "MESH:D007951"^^xsd:string) AnnotationAssertion( "NCI:C21889"^^xsd:string) AnnotationAssertion( "NCI:C3172"^^xsd:string) AnnotationAssertion( "Granulocytic Leukemia"^^xsd:string) AnnotationAssertion( "Myelocytic Leukemia"^^xsd:string) AnnotationAssertion( "Myelocytic Leukemias"^^xsd:string) AnnotationAssertion( "Myelogenous Leukemia"^^xsd:string) AnnotationAssertion( "granulocytic leukemias"^^xsd:string) AnnotationAssertion( "leukaemia myelogenous"^^xsd:string) AnnotationAssertion( "myelogenous leukemias"^^xsd:string) AnnotationAssertion( "myeloid granulocytic leukaemia"^^xsd:string) AnnotationAssertion( "myeloid granulocytic leukemia"^^xsd:string) AnnotationAssertion( "myeloid leukaemia"^^xsd:string) AnnotationAssertion( "myeloid leukemias"^^xsd:string) AnnotationAssertion( "non-lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "chronic myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8692"^^xsd:string) AnnotationAssertion(rdfs:label "myeloid leukemia"^^xsd:string) SubClassOf( ) # Class: (subacute monocytic leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:206.2"^^xsd:string) AnnotationAssertion( "RDO:9002326"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8696"^^xsd:string) AnnotationAssertion(rdfs:label "subacute monocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (neuropathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29"^^xsd:string) "A nervous system disease that is located_in nerves or nerve cells. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003100"^^xsd:string) AnnotationAssertion( "EFO:0004149"^^xsd:string) AnnotationAssertion( "ICD10CM:G62.9"^^xsd:string) AnnotationAssertion( "NCI:C4731"^^xsd:string) AnnotationAssertion( "peripheral neuropathy"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE AXONAL HEREDITARY MOTOR AND SENSORY NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:870"^^xsd:string) AnnotationAssertion(rdfs:label "neuropathy"^^xsd:string) SubClassOf( ) # Class: (cheek mucosa cancer) AnnotationAssertion( "ICD10CM:C06.0"^^xsd:string) AnnotationAssertion( "ICD9CM:145.0"^^xsd:string) AnnotationAssertion( "NCI:C9320"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:93735006"^^xsd:string) "malignant neoplasm of buccal mucosa"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:145.0"^^xsd:string) "malignant neoplasm of cheek, inner aspect"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C9320"^^xsd:string) "malignant neoplasm of the Buccal Mucosa"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363386008"^^xsd:string) "malignant tumor of buccal mucosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8702"^^xsd:string) AnnotationAssertion(rdfs:label "cheek mucosa cancer"^^xsd:string) SubClassOf( ) # Class: (genital herpes) AnnotationAssertion(Annotation( "http://www.cdc.gov/std/herpes/stdfact-herpes.htm"^^xsd:string) "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007282"^^xsd:string) AnnotationAssertion( "ICD9CM:054.1"^^xsd:string) AnnotationAssertion( "MESH:D006558"^^xsd:string) AnnotationAssertion( "NCI:C14364"^^xsd:string) AnnotationAssertion( "Genital Herpes Simplex"^^xsd:string) AnnotationAssertion( "Herpes Genitalis"^^xsd:string) AnnotationAssertion( "Herpes Simplex Virus Genital Infection"^^xsd:string) AnnotationAssertion( "herpes genitalia"^^xsd:string) AnnotationAssertion( "venereal herpes"^^xsd:string) AnnotationAssertion( "virus-genital herpes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8704"^^xsd:string) AnnotationAssertion(rdfs:label "genital herpes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurofibromatosis) AnnotationAssertion(Annotation( "MESH:D017253"^^xsd:string) "A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)"^^xsd:string) AnnotationAssertion( "EFO:0003092"^^xsd:string) AnnotationAssertion( "EFO:0008514"^^xsd:string) AnnotationAssertion( "GARD:10420"^^xsd:string) AnnotationAssertion( "ICD10CM:Q85.0"^^xsd:string) AnnotationAssertion( "ICD9CM:237.7"^^xsd:string) AnnotationAssertion( "MESH:D017253"^^xsd:string) AnnotationAssertion( "NCI:C6727"^^xsd:string) AnnotationAssertion( "ORDO:634518"^^xsd:string) AnnotationAssertion( "Multiple Neurofibroma"^^xsd:string) AnnotationAssertion( "multiple neurofibromas"^^xsd:string) AnnotationAssertion( "neurofibromatoses"^^xsd:string) AnnotationAssertion( "neurofibromatosis syndrome"^^xsd:string) AnnotationAssertion( "neurofibromatosis syndromes"^^xsd:string) AnnotationAssertion( "NEUROFIBROMATOSIS TYPE 6"^^xsd:string) AnnotationAssertion( "neurofibromatosis 3"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 3"^^xsd:string) AnnotationAssertion( "neurofibromatosis type 4"^^xsd:string) AnnotationAssertion( "neurofibromatosis type IV"^^xsd:string) AnnotationAssertion( "type IV neurofibromatosis of Riccardi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8712"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (decubitus ulcer) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/37590857/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK553107/"^^xsd:string) "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007067"^^xsd:string) AnnotationAssertion( "ICD10CM:L89"^^xsd:string) AnnotationAssertion( "ICD9CM:707.0"^^xsd:string) AnnotationAssertion( "MESH:D003668"^^xsd:string) AnnotationAssertion( "NCI:C50706"^^xsd:string) AnnotationAssertion( "Bed Sore"^^xsd:string) AnnotationAssertion( "Bedsore"^^xsd:string) AnnotationAssertion( "Bedsores"^^xsd:string) AnnotationAssertion( "Decubitus Ulcers"^^xsd:string) AnnotationAssertion( "Pressure Sore"^^xsd:string) AnnotationAssertion( "Pressure Sores"^^xsd:string) AnnotationAssertion( "Pressure Ulcer"^^xsd:string) AnnotationAssertion( "bed sores"^^xsd:string) AnnotationAssertion( "decubitus (pressure) ulcer"^^xsd:string) AnnotationAssertion( "decubitus ulcer any site"^^xsd:string) AnnotationAssertion( "pressure ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8717"^^xsd:string) AnnotationAssertion(rdfs:label "decubitus ulcer"^^xsd:string) SubClassOf( ) # Class: (in situ carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string) "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D09.9"^^xsd:string) AnnotationAssertion( "ICD9CM:230-234.99"^^xsd:string) AnnotationAssertion( "MESH:D002278"^^xsd:string) AnnotationAssertion( "NCI:C2917"^^xsd:string) AnnotationAssertion( "Intraepithelial Carcinoma"^^xsd:string) AnnotationAssertion( "Intraepithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Intraepithelial Neoplasms"^^xsd:string) AnnotationAssertion( "Preinvasive Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8719"^^xsd:string) AnnotationAssertion(rdfs:label "in situ carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vascular dementia) AnnotationAssertion(Annotation( "http://www.mayoclinic.com/health/vascular-dementia/DS00934"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm"^^xsd:string) "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004718"^^xsd:string) AnnotationAssertion( "ICD10CM:F01"^^xsd:string) AnnotationAssertion( "ICD9CM:290.4"^^xsd:string) AnnotationAssertion( "MESH:D015140"^^xsd:string) AnnotationAssertion( "NCI:C34522"^^xsd:string) AnnotationAssertion( "NCI:C34525"^^xsd:string) AnnotationAssertion( "Arteriosclerotic Dementia"^^xsd:string) AnnotationAssertion( "Binswanger Disease"^^xsd:string) AnnotationAssertion( "Binswanger Encephalopathy"^^xsd:string) AnnotationAssertion( "Binswanger's Disease"^^xsd:string) AnnotationAssertion( "Binswanger's Encephalopathy"^^xsd:string) AnnotationAssertion( "Binswangers Disease"^^xsd:string) AnnotationAssertion( "Chronic Progressive Subcortical Encephalopathy"^^xsd:string) AnnotationAssertion( "Encephalopathy, Binswangers"^^xsd:string) AnnotationAssertion( "Multi Infarct Dementia"^^xsd:string) AnnotationAssertion( "Subcortical Arteriosclerotic Encephalopathies"^^xsd:string) AnnotationAssertion( "Subcortical Arteriosclerotic Encephalopathy"^^xsd:string) AnnotationAssertion( "Subcortical Leukoencephalopathies"^^xsd:string) AnnotationAssertion( "Subcortical Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "Subcortical Vascular Dementia"^^xsd:string) AnnotationAssertion( "acute onset vascular dementia"^^xsd:string) AnnotationAssertion( "arteriosclerotic dementias"^^xsd:string) AnnotationAssertion( "multifocal dementia"^^xsd:string) AnnotationAssertion( "subcortical vascular dementias"^^xsd:string) AnnotationAssertion( "vascular dementias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8725"^^xsd:string) AnnotationAssertion(rdfs:label "vascular dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (milker's nodule) AnnotationAssertion(Annotation( "http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf"^^xsd:string) "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007370"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.04"^^xsd:string) AnnotationAssertion( "ICD9CM:051.9"^^xsd:string) AnnotationAssertion( "MESH:D011213"^^xsd:string) AnnotationAssertion( "Milker Nodes"^^xsd:string) AnnotationAssertion( "Milker's Node"^^xsd:string) AnnotationAssertion( "Milker's Nodes"^^xsd:string) AnnotationAssertion( "Milkers Nodes"^^xsd:string) AnnotationAssertion( "Poxviridae Infection"^^xsd:string) AnnotationAssertion( "Poxviridae Infections"^^xsd:string) AnnotationAssertion( "Poxvirus Infection"^^xsd:string) AnnotationAssertion( "Poxvirus Infections"^^xsd:string) AnnotationAssertion( "milker nodule"^^xsd:string) AnnotationAssertion( "milkers' node"^^xsd:string) AnnotationAssertion( "paravaccinia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pseudocowpox"^^xsd:string) AnnotationAssertion( "DOID:8729"^^xsd:string) AnnotationAssertion(rdfs:label "milker's nodule"^^xsd:string) SubClassOf( ) # Class: (anaerobic pneumonia) AnnotationAssertion(Annotation( "http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg"^^xsd:string) "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:482.81"^^xsd:string) AnnotationAssertion( "RDO:9003298"^^xsd:string) AnnotationAssertion( "pneumonia due to anaerobes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:873"^^xsd:string) AnnotationAssertion(rdfs:label "anaerobic pneumonia"^^xsd:string) SubClassOf( ) # Class: (carotid body cancer) AnnotationAssertion(Annotation( "http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm"^^xsd:string) "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C75.4"^^xsd:string) AnnotationAssertion( "ICD9CM:194.5"^^xsd:string) AnnotationAssertion( "NCI:C3574"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3574"^^xsd:string) "malignant Carotid body Paraganglioma"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:16822006"^^xsd:string) "malignant carotid body tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cancer of carotid body"^^xsd:string) AnnotationAssertion( "DOID:8731"^^xsd:string) AnnotationAssertion(rdfs:label "carotid body cancer"^^xsd:string) SubClassOf( ) # Class: (smallpox) AnnotationAssertion(Annotation( "http://www.who.int/csr/disease/smallpox/en/"^^xsd:string) "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7444"^^xsd:string) AnnotationAssertion( "ICD10CM:B03"^^xsd:string) AnnotationAssertion( "ICD9CM:050"^^xsd:string) AnnotationAssertion( "MESH:D012899"^^xsd:string) AnnotationAssertion( "NCI:C35027"^^xsd:string) AnnotationAssertion( "ordinary smallpox"^^xsd:string) AnnotationAssertion( "variola"^^xsd:string) AnnotationAssertion( "variolas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8736"^^xsd:string) AnnotationAssertion(rdfs:label "smallpox"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leukoplakia of penis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001015"^^xsd:string) AnnotationAssertion( "ICD10CM:N48.0"^^xsd:string) AnnotationAssertion( "ICD9CM:607.0"^^xsd:string) AnnotationAssertion( "NCI:C3151"^^xsd:string) AnnotationAssertion( "kraurosis of penis"^^xsd:string) AnnotationAssertion( "penile leukoplakia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8738"^^xsd:string) AnnotationAssertion(rdfs:label "leukoplakia of penis"^^xsd:string) SubClassOf( ) # Class: (bacterial pneumonia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Bacterial_pneumonia"^^xsd:string) "A pneumonia involving inflammation of the lungs caused by bacteria. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001272"^^xsd:string) AnnotationAssertion( "ICD10CM:J15.9"^^xsd:string) AnnotationAssertion( "ICD9CM:482.9"^^xsd:string) AnnotationAssertion( "MESH:D018410"^^xsd:string) AnnotationAssertion( "NCI:C26704"^^xsd:string) AnnotationAssertion( "Bacterial Pneumonias"^^xsd:string) AnnotationAssertion( "gram-negative pneumonia"^^xsd:string) AnnotationAssertion( "pneumonia due to other gram-negative bacteria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:874"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seborrheic dermatitis) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm"^^xsd:string) "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000764"^^xsd:string) AnnotationAssertion( "ICD10CM:L21"^^xsd:string) AnnotationAssertion( "ICD9CM:690.1"^^xsd:string) AnnotationAssertion( "MESH:D012628"^^xsd:string) AnnotationAssertion( "NCI:C111888"^^xsd:string) AnnotationAssertion( "Dermatitis Seborrheica"^^xsd:string) AnnotationAssertion( "Seborrhea"^^xsd:string) AnnotationAssertion( "Seborrheic Dermatitides"^^xsd:string) AnnotationAssertion( "Seborrhoeic dermatitis"^^xsd:string) AnnotationAssertion( "Seborrhoeic eczema"^^xsd:string) AnnotationAssertion( "skin seborrheic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8741"^^xsd:string) AnnotationAssertion(rdfs:label "seborrheic dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (erythema infectiosum) AnnotationAssertion(Annotation( "MESH:D016731"^^xsd:string) "Contagious infection with human B19 Parvovirus most commonly seen in school age children and characterized by fever, headache, and rashes of the face, trunk, and extremities. It is often confused with rubella."^^xsd:string) AnnotationAssertion( "EFO:1000693"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.3"^^xsd:string) AnnotationAssertion( "ICD9CM:057.0"^^xsd:string) AnnotationAssertion( "MESH:D016731"^^xsd:string) AnnotationAssertion( "NCI:C84695"^^xsd:string) AnnotationAssertion( "Fifth Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8743"^^xsd:string) AnnotationAssertion(rdfs:label "erythema infectiosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (gastric mucosal hypertrophy) AnnotationAssertion(Annotation( "MESH:D005758"^^xsd:string) "GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS."^^xsd:string) AnnotationAssertion( "MIM:137280"^^xsd:string) AnnotationAssertion( "RDO:0005652"^^xsd:string) AnnotationAssertion( "EFO:1000946"^^xsd:string) AnnotationAssertion( "ICD10CM:K29.6"^^xsd:string) AnnotationAssertion( "ICD9CM:535.2"^^xsd:string) AnnotationAssertion( "MESH:D005758"^^xsd:string) AnnotationAssertion( "NCI:C67277"^^xsd:string) AnnotationAssertion( "Gastritis, Hypertrophic"^^xsd:string) AnnotationAssertion( "Giant Hypertrophic Gastritis"^^xsd:string) AnnotationAssertion( "Menetrier Disease"^^xsd:string) AnnotationAssertion( "Menetrier's Disease"^^xsd:string) AnnotationAssertion( "Menetriers disease"^^xsd:string) AnnotationAssertion( "familial giant hypertrophic gastritis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:235665008"^^xsd:string) "giant rugal hypertrophy of stomach"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:413219009"^^xsd:string) "hypertrophic gastropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8757"^^xsd:string) AnnotationAssertion(rdfs:label "gastric mucosal hypertrophy"^^xsd:string) SubClassOf( ) # Class: (pyomyositis) AnnotationAssertion(Annotation( "MESH:D052880"^^xsd:string) "An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS."^^xsd:string) AnnotationAssertion( "EFO:1001409"^^xsd:string) AnnotationAssertion( "GARD:4614"^^xsd:string) AnnotationAssertion( "ICD10CM:M60.0"^^xsd:string) AnnotationAssertion( "ICD9CM:040.81"^^xsd:string) AnnotationAssertion( "MESH:D052880"^^xsd:string) AnnotationAssertion( "NCI:C128382"^^xsd:string) AnnotationAssertion( "Tropical Myositis"^^xsd:string) AnnotationAssertion( "tropical pyomyositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:876"^^xsd:string) AnnotationAssertion(rdfs:label "pyomyositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute megakaryocytic leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26228843/"^^xsd:string) Annotation( "https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf"^^xsd:string) "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003025"^^xsd:string) AnnotationAssertion( "EFO:1001932"^^xsd:string) AnnotationAssertion( "GARD:524"^^xsd:string) AnnotationAssertion( "ICD10CM:C94.2"^^xsd:string) AnnotationAssertion( "ICD9CM:207.2"^^xsd:string) AnnotationAssertion( "ICDO:9910/3"^^xsd:string) AnnotationAssertion( "MESH:D007947"^^xsd:string) AnnotationAssertion( "NCI:C3170"^^xsd:string) AnnotationAssertion( "Acute Megakaryocytic Leukemias"^^xsd:string) AnnotationAssertion( "acute megakaryoblastic leukaemia, FAB M7"^^xsd:string) AnnotationAssertion( "acute megakaryoblastic leukemia"^^xsd:string) AnnotationAssertion( "acute megakaryoblastic leukemia, FAB M7"^^xsd:string) AnnotationAssertion( "acute megakaryoblastic leukemias"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M7"^^xsd:string) AnnotationAssertion( "megakaryocytic leukemia"^^xsd:string) AnnotationAssertion( "megakaryocytic leukemias"^^xsd:string) AnnotationAssertion( "megakaryocytic myelosis"^^xsd:string) AnnotationAssertion( "thrombocytic leukaemia"^^xsd:string) AnnotationAssertion( "adult acute megakaryoblastic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8761"^^xsd:string) AnnotationAssertion(rdfs:label "acute megakaryocytic leukemia"^^xsd:string) SubClassOf( ) # Class: (contagious pustular dermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Orf_%28disease%29"^^xsd:string) Annotation( "http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007222"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.02"^^xsd:string) AnnotationAssertion( "ICD9CM:051.2"^^xsd:string) AnnotationAssertion( "MESH:D004474"^^xsd:string) AnnotationAssertion( "Orf"^^xsd:string) AnnotationAssertion( "Orf virus infection"^^xsd:string) AnnotationAssertion( "contagious ecthyma"^^xsd:string) AnnotationAssertion( "contagious pustular dermatitides"^^xsd:string) AnnotationAssertion( "ecthyma contagiosum"^^xsd:string) AnnotationAssertion( "scabby mouth"^^xsd:string) AnnotationAssertion( "sheep pox"^^xsd:string) AnnotationAssertion( "thistle disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8771"^^xsd:string) AnnotationAssertion(rdfs:label "contagious pustular dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Crohn's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chron%27s_disease"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Crohns-Disease"^^xsd:string) "An intestinal disease that involves inflammation located_in intestine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:266600"^^xsd:string) AnnotationAssertion( "EFO:0000384"^^xsd:string) AnnotationAssertion( "EFO:0005625"^^xsd:string) AnnotationAssertion( "GARD:10232"^^xsd:string) AnnotationAssertion( "MESH:D003424"^^xsd:string) AnnotationAssertion( "NCI:C2965"^^xsd:string) AnnotationAssertion( "Crohn disease"^^xsd:string) AnnotationAssertion( "Crohn's disease of colon"^^xsd:string) AnnotationAssertion( "Crohn's disease of large bowel"^^xsd:string) AnnotationAssertion( "Crohn's enteritis"^^xsd:string) AnnotationAssertion( "Crohns disease"^^xsd:string) AnnotationAssertion( "granulomatous colitis"^^xsd:string) AnnotationAssertion( "granulomatous enteritis"^^xsd:string) AnnotationAssertion( "inflammatory bowel disease 1"^^xsd:string) AnnotationAssertion( "regional enteritis"^^xsd:string) AnnotationAssertion( "regional ileitides"^^xsd:string) AnnotationAssertion( "regional ileitis"^^xsd:string) AnnotationAssertion( "terminal ileitis"^^xsd:string) AnnotationAssertion( "oral Crohn's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CROHN DISEASE, ASSOCIATION WITH"^^xsd:string) AnnotationAssertion( "INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:8778"^^xsd:string) AnnotationAssertion(rdfs:label "Crohn's disease"^^xsd:string) SubClassOf( ) # Class: (rubella) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rubella"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1002026"^^xsd:string) AnnotationAssertion( "GARD:4742"^^xsd:string) AnnotationAssertion( "ICD10CM:B06.9"^^xsd:string) AnnotationAssertion( "ICD9CM:056"^^xsd:string) AnnotationAssertion( "MESH:D012409"^^xsd:string) AnnotationAssertion( "NCI:C85051"^^xsd:string) AnnotationAssertion( "German Measles"^^xsd:string) AnnotationAssertion( "Rubellas"^^xsd:string) AnnotationAssertion( "Three Day Measle"^^xsd:string) AnnotationAssertion( "Three Day Measles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8781"^^xsd:string) AnnotationAssertion(rdfs:label "rubella"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (disseminated chorioretinitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H30.1"^^xsd:string) AnnotationAssertion( "ICD9CM:363.1"^^xsd:string) AnnotationAssertion( "RDO:9003513"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8787"^^xsd:string) AnnotationAssertion(rdfs:label "disseminated chorioretinitis"^^xsd:string) SubClassOf( ) # Class: (breast carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/26431342"^^xsd:string) "An in situ carcinoma that is located_in the breast. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000221"^^xsd:string) AnnotationAssertion( "ICD10CM:D05"^^xsd:string) AnnotationAssertion( "ICD9CM:233.0"^^xsd:string) AnnotationAssertion( "MESH:D000071960"^^xsd:string) AnnotationAssertion( "carcinoma in situ of breast"^^xsd:string) AnnotationAssertion( "non-infiltrating carcinoma of breast"^^xsd:string) AnnotationAssertion( "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8791"^^xsd:string) AnnotationAssertion(rdfs:label "breast carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eye carcinoma in situ) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Carcinoma_in_situ"^^xsd:string) "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D09.2"^^xsd:string) AnnotationAssertion( "ICD9CM:234.0"^^xsd:string) AnnotationAssertion( "carcinoma in situ of eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8792"^^xsd:string) AnnotationAssertion(rdfs:label "eye carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lung carcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html"^^xsd:string) "An in situ carcinoma that is located_in the lung. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D02.2"^^xsd:string) AnnotationAssertion( "ICD9CM:231.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8800"^^xsd:string) AnnotationAssertion(rdfs:label "lung carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (trachea carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/"^^xsd:string) "An in situ carcinoma that is located_in the trachea. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D02.1"^^xsd:string) AnnotationAssertion( "ICD9CM:231.1"^^xsd:string) AnnotationAssertion( "NCI:C3639"^^xsd:string) AnnotationAssertion( "RDO:9003583"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3639"^^xsd:string) "Tracheal carcinoma In situ"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:92772005"^^xsd:string) "carcinoma in situ of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8802"^^xsd:string) AnnotationAssertion(rdfs:label "trachea carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intermediate coronary syndrome) AnnotationAssertion(Annotation( "MESH:D000789"^^xsd:string) "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION."^^xsd:string) AnnotationAssertion( "EFO:0020925"^^xsd:string) AnnotationAssertion( "EFO:1000985"^^xsd:string) AnnotationAssertion( "ICD10CM:I20.0"^^xsd:string) AnnotationAssertion( "ICD9CM:411.1"^^xsd:string) AnnotationAssertion( "MESH:D000789"^^xsd:string) AnnotationAssertion( "MONDO:0006805"^^xsd:string) AnnotationAssertion( "NCI:C66911"^^xsd:string) AnnotationAssertion( "Myocardial Preinfarction Syndrome"^^xsd:string) AnnotationAssertion( "Preinfarction Angina"^^xsd:string) AnnotationAssertion( "Preinfarction Anginas"^^xsd:string) AnnotationAssertion( "Unstable Angina Pectori"^^xsd:string) AnnotationAssertion( "Unstable Angina Pectoris"^^xsd:string) AnnotationAssertion( "angina at rest"^^xsd:string) AnnotationAssertion( "anginal chest pain at rest"^^xsd:string) AnnotationAssertion( "impending infarction"^^xsd:string) AnnotationAssertion( "myocardial preinfarction syndromes"^^xsd:string) AnnotationAssertion( "unstable angina"^^xsd:string) AnnotationAssertion( "unstable anginas"^^xsd:string) AnnotationAssertion( "worsening angina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8805"^^xsd:string) AnnotationAssertion(rdfs:label "intermediate coronary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heterophyiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.8"^^xsd:string) AnnotationAssertion( "ICD9CM:121.6"^^xsd:string) AnnotationAssertion( "NCI:C128389"^^xsd:string) AnnotationAssertion( "heterophyes infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:882"^^xsd:string) AnnotationAssertion(rdfs:label "heterophyiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (colon carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/622667"^^xsd:string) "An intestine carcinoma in situ that is located_in the colon. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D01.0"^^xsd:string) AnnotationAssertion( "ICD9CM:230.3"^^xsd:string) AnnotationAssertion( "carcinoma in situ of colon"^^xsd:string) AnnotationAssertion( "stage 0 colonic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8826"^^xsd:string) AnnotationAssertion(rdfs:label "colon carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parasitic helminthiasis infectious disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Helminth"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Helminthiasis"^^xsd:string) "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001342"^^xsd:string) AnnotationAssertion( "ICD10CM:B83.9"^^xsd:string) AnnotationAssertion( "ICD9CM:120-129.99"^^xsd:string) AnnotationAssertion( "MESH:D006373"^^xsd:string) AnnotationAssertion( "NCI:C84751"^^xsd:string) AnnotationAssertion( "helminth infection"^^xsd:string) AnnotationAssertion( "helminthiases"^^xsd:string) AnnotationAssertion( "helminthiasis"^^xsd:string) AnnotationAssertion( "helminthosis"^^xsd:string) AnnotationAssertion( "nematomorpha infection"^^xsd:string) AnnotationAssertion( "nematomorpha infections"^^xsd:string) AnnotationAssertion( "worm infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:883"^^xsd:string) AnnotationAssertion(rdfs:label "parasitic helminthiasis infectious disease"^^xsd:string) SubClassOf( ) # Class: (Hodgkin's lymphoma, nodular sclerosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0004708"^^xsd:string) AnnotationAssertion( "ICD10CM:C81.1"^^xsd:string) AnnotationAssertion( "ICD9CM:201.5"^^xsd:string) AnnotationAssertion( "NCI:C3518"^^xsd:string) AnnotationAssertion( "RDO:9004182"^^xsd:string) AnnotationAssertion( "Classical Hodgkin lymphoma, nodular sclerosis"^^xsd:string) AnnotationAssertion( "Hodgkin lymphoma, nodular sclerosis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:188564003"^^xsd:string) "Hodgkin's disease, nodular sclerosis of unspecified site"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3518"^^xsd:string) "NSHL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hodgkin's disease, nodular sclerosis"^^xsd:string) AnnotationAssertion( "DOID:8838"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin's lymphoma, nodular sclerosis"^^xsd:string) SubClassOf( ) # Class: (metagonimiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:121.5"^^xsd:string) AnnotationAssertion( "NCI:C128390"^^xsd:string) AnnotationAssertion( "infection by metagonimus yokogawai"^^xsd:string) AnnotationAssertion( "metagonimiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:884"^^xsd:string) AnnotationAssertion(rdfs:label "metagonimiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (sublingual gland cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sublingual_gland"^^xsd:string) "A salivary gland cancer that is located_in the sublingual gland. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:C08.1"^^xsd:string) AnnotationAssertion( "ICD9CM:142.2"^^xsd:string) AnnotationAssertion( "NCI:C3527"^^xsd:string) AnnotationAssertion( "malignant tumor of sublingual gland"^^xsd:string) AnnotationAssertion( "malignant tumor of the sublingual gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8849"^^xsd:string) AnnotationAssertion(rdfs:label "sublingual gland cancer"^^xsd:string) SubClassOf( ) # Class: (fascioliasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001324"^^xsd:string) AnnotationAssertion( "GARD:6428"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.3"^^xsd:string) AnnotationAssertion( "ICD9CM:121.3"^^xsd:string) AnnotationAssertion( "MESH:D005211"^^xsd:string) AnnotationAssertion( "NCI:C128387"^^xsd:string) AnnotationAssertion( "Fasciola hepatica infection"^^xsd:string) AnnotationAssertion( "Fascioliases"^^xsd:string) AnnotationAssertion( "infection by Fasciola"^^xsd:string) AnnotationAssertion( "liver flukes"^^xsd:string) AnnotationAssertion( "sheep liver fluke infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:885"^^xsd:string) AnnotationAssertion(rdfs:label "fascioliasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (salivary gland cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=446528"^^xsd:string) "An oral cavity cancer that is located_in the salivary gland. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C08"^^xsd:string) AnnotationAssertion( "ICD9CM:142.8"^^xsd:string) AnnotationAssertion( "cancer of salivary gland"^^xsd:string) AnnotationAssertion( "malignant neoplasm of salivary gland"^^xsd:string) AnnotationAssertion( "malignant tumor of the salivary gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8850"^^xsd:string) AnnotationAssertion(rdfs:label "salivary gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lupus erythematosus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29366725"^^xsd:string) "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:L93"^^xsd:string) AnnotationAssertion( "ICD9CM:695.4"^^xsd:string) AnnotationAssertion( "NCI:C27153"^^xsd:string) AnnotationAssertion( "lupus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8857"^^xsd:string) AnnotationAssertion(rdfs:label "lupus erythematosus"^^xsd:string) SubClassOf( ) # Class: (tonsil cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1001214"^^xsd:string) AnnotationAssertion( "ICD10CM:C09"^^xsd:string) AnnotationAssertion( "ICD9CM:146.0"^^xsd:string) AnnotationAssertion( "NCI:C7404"^^xsd:string) AnnotationAssertion( "cancer of tonsil"^^xsd:string) AnnotationAssertion( "malignant neoplasm of palatine tonsil"^^xsd:string) AnnotationAssertion( "malignant neoplasm of tonsil, faucial"^^xsd:string) AnnotationAssertion( "malignant tonsillar tumor"^^xsd:string) AnnotationAssertion( "malignant tumor of tonsil"^^xsd:string) AnnotationAssertion( "tonsil cancers"^^xsd:string) AnnotationAssertion( "tonsillar cancer"^^xsd:string) AnnotationAssertion( "tonsillar cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8858"^^xsd:string) AnnotationAssertion(rdfs:label "tonsil cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary subvalvular stenosis) AnnotationAssertion(Annotation( "MESH:D011662"^^xsd:string) "Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort."^^xsd:string) AnnotationAssertion( "EFO:1001137"^^xsd:string) AnnotationAssertion( "ICD10CM:Q24.3"^^xsd:string) AnnotationAssertion( "ICD9CM:746.83"^^xsd:string) AnnotationAssertion( "MESH:D011662"^^xsd:string) AnnotationAssertion( "NCI:C34961"^^xsd:string) AnnotationAssertion( "RDO:0006440"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C34961"^^xsd:string) "Congenital Infundibular Stenosis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:3192005"^^xsd:string) "Infundibular pulmonic stenosis"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:746.83"^^xsd:string) "Infundibular pulmonic stenosis, congenital"^^xsd:string) AnnotationAssertion( "Obstructive Subaortic Conus"^^xsd:string) AnnotationAssertion( "Pulmonary Infundibular Stenoses"^^xsd:string) AnnotationAssertion( "Pulmonary Infundibular Stenosis"^^xsd:string) AnnotationAssertion( "Pulmonary Subvalvular Stenoses"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:746.83"^^xsd:string) "Subvalvular pulmonic stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8861"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary subvalvular stenosis"^^xsd:string) SubClassOf( ) # Class: (acute monocytic leukemia) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861"^^xsd:string) "A monocytic leukemia where the majority of monocytic cells are promonocytes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:151380"^^xsd:string) AnnotationAssertion( "EFO:0000221"^^xsd:string) AnnotationAssertion( "EFO:1001944"^^xsd:string) AnnotationAssertion( "GARD:525"^^xsd:string) AnnotationAssertion( "ICD9CM:206.0"^^xsd:string) AnnotationAssertion( "ICDO:9891/3"^^xsd:string) AnnotationAssertion( "MESH:D007948"^^xsd:string) AnnotationAssertion( "NCI:C7171"^^xsd:string) AnnotationAssertion( "Acute Monoblastic Leukemias"^^xsd:string) AnnotationAssertion( "Myeloid Leukemia, Acute, M5"^^xsd:string) AnnotationAssertion( "Schilling-type myeloid leukemia"^^xsd:string) AnnotationAssertion( "acute monoblastic leukemia"^^xsd:string) AnnotationAssertion( "acute monoblastic leukemia and acute monocytic leukemia"^^xsd:string) AnnotationAssertion( "acute monocytic leukaemia"^^xsd:string) AnnotationAssertion( "acute monocytic leukaemia without mention of remission"^^xsd:string) AnnotationAssertion( "acute monocytic leukemia without mention of remission"^^xsd:string) AnnotationAssertion( "acute monocytic leukemia, FAB M5"^^xsd:string) AnnotationAssertion( "acute monocytic leukemia, morphology"^^xsd:string) AnnotationAssertion( "acute monocytic leukemias"^^xsd:string) AnnotationAssertion( "childhood acute monocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8864"^^xsd:string) AnnotationAssertion(rdfs:label "acute monocytic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (actinic keratosis) AnnotationAssertion(Annotation( "MESH:D055623"^^xsd:string) "White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA."^^xsd:string) AnnotationAssertion( "EFO:0002496"^^xsd:string) AnnotationAssertion( "ICD10CM:L57.0"^^xsd:string) AnnotationAssertion( "ICD9CM:702.0"^^xsd:string) AnnotationAssertion( "ICDO:8070/0"^^xsd:string) AnnotationAssertion( "MESH:D055623"^^xsd:string) AnnotationAssertion( "NCI:C3148"^^xsd:string) AnnotationAssertion( "Actinic Keratoses"^^xsd:string) AnnotationAssertion( "SK - solar keratosis"^^xsd:string) AnnotationAssertion( "Solar Keratosis"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3148"^^xsd:string) "actinic (Solar) Keratosis"^^xsd:string) AnnotationAssertion( "senile hyperkeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8866"^^xsd:string) AnnotationAssertion(rdfs:label "actinic keratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (molluscum contagiosum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Molluscum_contagiosum"^^xsd:string) Annotation( "http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm"^^xsd:string) "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007375"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.1"^^xsd:string) AnnotationAssertion( "ICD9CM:078.0"^^xsd:string) AnnotationAssertion( "MESH:D008976"^^xsd:string) AnnotationAssertion( "NCI:C155872"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8867"^^xsd:string) AnnotationAssertion(rdfs:label "molluscum contagiosum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neuromyelitis optica) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neuromyelitis_optica"^^xsd:string) Annotation( "http://rarediseases.org/rare-diseases/neuromyelitis-optica/"^^xsd:string) "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004256"^^xsd:string) AnnotationAssertion( "EFO:0009584"^^xsd:string) AnnotationAssertion( "EFO:0009585"^^xsd:string) AnnotationAssertion( "GARD:6267"^^xsd:string) AnnotationAssertion( "ICD10CM:G36.0"^^xsd:string) AnnotationAssertion( "ICD9CM:341.0"^^xsd:string) AnnotationAssertion( "MESH:D009471"^^xsd:string) AnnotationAssertion( "NCI:C84934"^^xsd:string) AnnotationAssertion( "ORDO:71211"^^xsd:string) AnnotationAssertion( "Devic disease"^^xsd:string) AnnotationAssertion( "Devic neuromyelitis optica"^^xsd:string) AnnotationAssertion( "Devic neuromyelitis opticas"^^xsd:string) AnnotationAssertion( "Devic syndrome"^^xsd:string) AnnotationAssertion( "Devic's disease"^^xsd:string) AnnotationAssertion( "Devic's neuromyelitis optica"^^xsd:string) AnnotationAssertion( "Devic's syndrome"^^xsd:string) AnnotationAssertion( "Devics Neuromyelitis Optica"^^xsd:string) AnnotationAssertion( "Devics disease"^^xsd:string) AnnotationAssertion( "Devics syndrome"^^xsd:string) AnnotationAssertion( "NMO spectrum disorder"^^xsd:string) AnnotationAssertion( "neuromyelitis optica (NMO) spectrum disorder"^^xsd:string) AnnotationAssertion( "neuromyelitis optica spectrum disorder"^^xsd:string) AnnotationAssertion( "AQP4-IgG-negative neuromyelitis optica"^^xsd:string) AnnotationAssertion( "AQP4-IgG-positive neuromyelitis optica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8869"^^xsd:string) AnnotationAssertion(rdfs:label "neuromyelitis optica"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (penis carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8126803"^^xsd:string) "An in situ carcinoma that is located_in the penis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D07.4"^^xsd:string) AnnotationAssertion( "ICD9CM:233.5"^^xsd:string) AnnotationAssertion( "NCI:C27790"^^xsd:string) AnnotationAssertion( "Bowen's disease of penis"^^xsd:string) AnnotationAssertion( "Queyrat's erythroplasia"^^xsd:string) AnnotationAssertion( "carcinoma in situ of penis"^^xsd:string) AnnotationAssertion( "grade III squamous Intraepithelial lesion of penis"^^xsd:string) AnnotationAssertion( "penile intraepithelial neoplasia grade III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8872"^^xsd:string) AnnotationAssertion(rdfs:label "penis carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fasciolopsiasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. (DO)"^^xsd:string) AnnotationAssertion( "Trematode Infection"^^xsd:string) AnnotationAssertion( "Trematode Infections"^^xsd:string) AnnotationAssertion( "ICD10CM:B66.5"^^xsd:string) AnnotationAssertion( "ICD9CM:121.4"^^xsd:string) AnnotationAssertion( "MESH:D014201"^^xsd:string) AnnotationAssertion( "NCI:C128388"^^xsd:string) AnnotationAssertion( "fasciolopsiases"^^xsd:string) AnnotationAssertion( "infection by Fasciolopsis buski"^^xsd:string) AnnotationAssertion( "infectious disease by Fasciolopsis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:888"^^xsd:string) AnnotationAssertion(rdfs:label "fasciolopsiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rosacea) AnnotationAssertion(Annotation( "MESH:D012393"^^xsd:string) "A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."^^xsd:string) AnnotationAssertion( "EFO:1000760"^^xsd:string) AnnotationAssertion( "ICD10CM:L71"^^xsd:string) AnnotationAssertion( "ICD10CM:L71.9"^^xsd:string) AnnotationAssertion( "ICD9CM:695.3"^^xsd:string) AnnotationAssertion( "MESH:D012393"^^xsd:string) AnnotationAssertion( "NCI:C97136"^^xsd:string) AnnotationAssertion( "Acne Rosacea"^^xsd:string) AnnotationAssertion( "Erythematotelangiectatic Rosacea"^^xsd:string) AnnotationAssertion( "Granulomatous Rosacea"^^xsd:string) AnnotationAssertion( "Ocular Rosacea"^^xsd:string) AnnotationAssertion( "Papulopustular Rosacea"^^xsd:string) AnnotationAssertion( "Phymatous Rosacea"^^xsd:string) AnnotationAssertion( "acne erythematosa"^^xsd:string) AnnotationAssertion( "acne roscea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8881"^^xsd:string) AnnotationAssertion(rdfs:label "rosacea"^^xsd:string) SubClassOf( ) # Class: (lower lip cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C00.1"^^xsd:string) AnnotationAssertion( "ICD9CM:140.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8883"^^xsd:string) AnnotationAssertion(rdfs:label "lower lip cancer"^^xsd:string) SubClassOf( ) # Class: (chorioretinitis) AnnotationAssertion(Annotation( "MESH:D002825"^^xsd:string) "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body."^^xsd:string) AnnotationAssertion( "GARD:6060"^^xsd:string) AnnotationAssertion( "ICD9CM:363.20"^^xsd:string) AnnotationAssertion( "MESH:D002825"^^xsd:string) AnnotationAssertion( "NCI:C110923"^^xsd:string) AnnotationAssertion( "Chorioretinitides"^^xsd:string) AnnotationAssertion( "Choroidoretinitis"^^xsd:string) AnnotationAssertion( "Retinochoroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8886"^^xsd:string) AnnotationAssertion(rdfs:label "chorioretinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pityriasis rosea) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405"^^xsd:string) "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000756"^^xsd:string) AnnotationAssertion( "ICD10CM:L42"^^xsd:string) AnnotationAssertion( "ICD9CM:696.3"^^xsd:string) AnnotationAssertion( "MESH:D017515"^^xsd:string) AnnotationAssertion( "NCI:C26855"^^xsd:string) AnnotationAssertion( "pityriasis circinata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8892"^^xsd:string) AnnotationAssertion(rdfs:label "pityriasis rosea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (psoriasis) AnnotationAssertion(Annotation( "https://www.cdc.gov/psoriasis/index.htm"^^xsd:string) "A skin disease that is characterized by patches of thick red skin and silvery scales. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000676"^^xsd:string) AnnotationAssertion( "GARD:10262"^^xsd:string) AnnotationAssertion( "ICD10CM:L40"^^xsd:string) AnnotationAssertion( "MESH:D011565"^^xsd:string) AnnotationAssertion( "MIM:PS177900"^^xsd:string) AnnotationAssertion( "NCI:C3346"^^xsd:string) AnnotationAssertion( "PALMOPLANTAR PUSTULOSIS"^^xsd:string) AnnotationAssertion( "Psoriases"^^xsd:string) AnnotationAssertion( "palmoplantaris pustulosis"^^xsd:string) AnnotationAssertion( "pustular psoriasis 2"^^xsd:string) AnnotationAssertion( "pustular psoriasis of palms and soles"^^xsd:string) AnnotationAssertion( "pustulosis of palms and soles"^^xsd:string) AnnotationAssertion( "pustulosis palmaris et plantaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PSORIASIS, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "DOID:8893"^^xsd:string) AnnotationAssertion(rdfs:label "psoriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mitochondrial encephalomyopathy) AnnotationAssertion(Annotation( "MESH:D017237"^^xsd:string) "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)"^^xsd:string) AnnotationAssertion( "MESH:D017237"^^xsd:string) AnnotationAssertion( "RDO:0003323"^^xsd:string) AnnotationAssertion( "mitochondrial encephalomyopathies"^^xsd:string) AnnotationAssertion( "ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:890"^^xsd:string) AnnotationAssertion(rdfs:label "mitochondrial encephalomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (progressive myoclonus epilepsy) AnnotationAssertion(Annotation( "http://pn.bmj.com/content/15/3/164.long"^^xsd:string) "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)"^^xsd:string) AnnotationAssertion( "MIM:310370"^^xsd:string) AnnotationAssertion( "EFO:0020039"^^xsd:string) AnnotationAssertion( "GARD:7140"^^xsd:string) AnnotationAssertion( "MESH:D020191"^^xsd:string) AnnotationAssertion( "MIM:PS254800"^^xsd:string) AnnotationAssertion( "NCI:C7636"^^xsd:string) AnnotationAssertion( "Biotin Responsive Encephalopathy"^^xsd:string) AnnotationAssertion( "Biotin-Responsive Encephalopathies"^^xsd:string) AnnotationAssertion( "Familial Progressive Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "May White syndrome"^^xsd:string) AnnotationAssertion( "NOD"^^xsd:string) AnnotationAssertion( "PME"^^xsd:string) AnnotationAssertion( "atypical inclusion body disease"^^xsd:string) AnnotationAssertion( "atypical inclusion-body diseases"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsies"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "progressive myoclonus epilepsies"^^xsd:string) AnnotationAssertion( "neuronal ceroid-lipofuscinosis, dominant/recessive"^^xsd:string) AnnotationAssertion( "neuronal ceroid-lipofuscinosis, recessive"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:891"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tinea nigra) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html"^^xsd:string) "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.1"^^xsd:string) AnnotationAssertion( "ICD9CM:111.1"^^xsd:string) AnnotationAssertion( "MESH:C000656904"^^xsd:string) AnnotationAssertion( "infection by cladosporium werneckii"^^xsd:string) AnnotationAssertion( "keratomycosis nigricans"^^xsd:string) AnnotationAssertion( "tinea palmaris nigra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "microsporosis nigra"^^xsd:string) AnnotationAssertion( "DOID:8912"^^xsd:string) AnnotationAssertion(rdfs:label "tinea nigra"^^xsd:string) SubClassOf( ) # Class: (dermatophytosis) AnnotationAssertion(Annotation( "http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html"^^xsd:string) "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007510"^^xsd:string) AnnotationAssertion( "ICD10CM:B35"^^xsd:string) AnnotationAssertion( "ICD9CM:110"^^xsd:string) AnnotationAssertion( "MESH:D014005"^^xsd:string) AnnotationAssertion( "NCI:C26745"^^xsd:string) AnnotationAssertion( "Epidermophytoses"^^xsd:string) AnnotationAssertion( "Epidermophytosis"^^xsd:string) AnnotationAssertion( "Ringworm"^^xsd:string) AnnotationAssertion( "Tineas"^^xsd:string) AnnotationAssertion( "Trichophytoses"^^xsd:string) AnnotationAssertion( "dermatophytoses"^^xsd:string) AnnotationAssertion( "tinea"^^xsd:string) AnnotationAssertion( "trichophytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8913"^^xsd:string) AnnotationAssertion(rdfs:label "dermatophytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leukoplakia of vagina) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Leukoplakia"^^xsd:string) "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N89.4"^^xsd:string) AnnotationAssertion( "ICD9CM:623.1"^^xsd:string) AnnotationAssertion( "NCI:C3663"^^xsd:string) AnnotationAssertion( "vaginal leukoplakia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8920"^^xsd:string) AnnotationAssertion(rdfs:label "leukoplakia of vagina"^^xsd:string) SubClassOf( ) # Class: (skin melanoma) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/melanoma"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Melanoma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=45135"^^xsd:string) "A skin cancer that has_material_basis_in melanocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000389"^^xsd:string) AnnotationAssertion( "ICD10CM:C43.9"^^xsd:string) AnnotationAssertion( "ICD9CM:172.9"^^xsd:string) AnnotationAssertion( "NCI:C3510"^^xsd:string) AnnotationAssertion( "cutaneous malignant melanoma"^^xsd:string) AnnotationAssertion( "cutaneous melanoma"^^xsd:string) AnnotationAssertion( "hereditary dysplastic nevus syndrome"^^xsd:string) AnnotationAssertion( "malignant ear melanoma"^^xsd:string) AnnotationAssertion( "malignant lip melanoma"^^xsd:string) AnnotationAssertion( "malignant lower limb melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of ear and/or external auricular canal"^^xsd:string) AnnotationAssertion( "malignant melanoma of skin"^^xsd:string) AnnotationAssertion( "malignant neck melanoma"^^xsd:string) AnnotationAssertion( "malignant scalp melanoma"^^xsd:string) AnnotationAssertion( "malignant trunk melanoma"^^xsd:string) AnnotationAssertion( "malignant melanoma of skin of lower limb"^^xsd:string) AnnotationAssertion( "malignant melanoma of skin of trunk except scrotum"^^xsd:string) AnnotationAssertion( "malignant melanoma of skin of upper limb"^^xsd:string) AnnotationAssertion( "malignant upper limb melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8923"^^xsd:string) AnnotationAssertion(rdfs:label "skin melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (autoimmune thrombocytopenic purpura) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/immune-thrombocytopenia/"^^xsd:string) "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. (DO)"^^xsd:string) AnnotationAssertion( "MIM:188030"^^xsd:string) AnnotationAssertion( "EFO:0007160"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.3"^^xsd:string) AnnotationAssertion( "ICD9CM:287.31"^^xsd:string) AnnotationAssertion( "MESH:D016553"^^xsd:string) AnnotationAssertion( "NCI:C3446"^^xsd:string) AnnotationAssertion( "ORDO:3002"^^xsd:string) AnnotationAssertion( "AITP"^^xsd:string) AnnotationAssertion( "Autoimmune Thrombocytopenia"^^xsd:string) AnnotationAssertion( "ITP"^^xsd:string) AnnotationAssertion( "Idiopathic Thrombocytopenic Purpuras"^^xsd:string) AnnotationAssertion( "Immune Thrombocytopenia"^^xsd:string) AnnotationAssertion( "Immune Thrombocytopenias"^^xsd:string) AnnotationAssertion( "Immune Thrombocytopenic Purpura"^^xsd:string) AnnotationAssertion( "Werlhof disease"^^xsd:string) AnnotationAssertion( "Werlhof's disease"^^xsd:string) AnnotationAssertion( "Werlhofs disease"^^xsd:string) AnnotationAssertion( "autoimmune thrombocytopenias"^^xsd:string) AnnotationAssertion( "autoimmune thrombocytopenic purpuras"^^xsd:string) AnnotationAssertion( "idiopathic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "immune thrombocytopenic purpuras"^^xsd:string) AnnotationAssertion( "primary thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "chronic idiopathic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ideopath thrombocytopenic pur"^^xsd:string) AnnotationAssertion( "idiopathic purpura"^^xsd:string) AnnotationAssertion( "DOID:8924"^^xsd:string) AnnotationAssertion(rdfs:label "autoimmune thrombocytopenic purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary thrombocytopenia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:287.39"^^xsd:string) AnnotationAssertion( "RDO:9003715"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8925"^^xsd:string) AnnotationAssertion(rdfs:label "primary thrombocytopenia"^^xsd:string) SubClassOf( ) # Class: (learning disability) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Learning_disability"^^xsd:string) Annotation( "http://www.ldonline.org/ldbasics/whatisld"^^xsd:string) "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F81.9"^^xsd:string) AnnotationAssertion( "MESH:D007859"^^xsd:string) AnnotationAssertion( "NCI:C89334"^^xsd:string) AnnotationAssertion( "Developmental Academic Disorder"^^xsd:string) AnnotationAssertion( "Developmental Academic Disorders"^^xsd:string) AnnotationAssertion( "Developmental Disorders of Scholastic Skills"^^xsd:string) AnnotationAssertion( "Learning Disabilities"^^xsd:string) AnnotationAssertion( "Learning Disorder"^^xsd:string) AnnotationAssertion( "Learning Disorders"^^xsd:string) AnnotationAssertion( "Learning Disturbance"^^xsd:string) AnnotationAssertion( "Learning Disturbances"^^xsd:string) AnnotationAssertion( "academic skill disorder"^^xsd:string) AnnotationAssertion( "adult learning disorder"^^xsd:string) AnnotationAssertion( "adult learning disorders"^^xsd:string) AnnotationAssertion( "scholastic skills development disorders"^^xsd:string) AnnotationAssertion( "specific learning disability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8927"^^xsd:string) AnnotationAssertion(rdfs:label "learning disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (atrophic gastritis) AnnotationAssertion(Annotation( "MESH:D005757"^^xsd:string) "GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis."^^xsd:string) AnnotationAssertion( "EFO:1000826"^^xsd:string) AnnotationAssertion( "ICD10CM:K29.4"^^xsd:string) AnnotationAssertion( "ICD9CM:535.1"^^xsd:string) AnnotationAssertion( "MESH:D005757"^^xsd:string) AnnotationAssertion( "NCI:C7405"^^xsd:string) AnnotationAssertion( "atrophic gastritides"^^xsd:string) AnnotationAssertion( "gastric atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8929"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic gastritis"^^xsd:string) SubClassOf( ) # Class: (Wilson disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/32279718/"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Wilson-Disease"^^xsd:string) "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)"^^xsd:string) AnnotationAssertion( "MIM:277900"^^xsd:string) AnnotationAssertion( "OMIA:001071"^^xsd:string) AnnotationAssertion( "OMIA:001988"^^xsd:string) AnnotationAssertion( "GARD:7893"^^xsd:string) AnnotationAssertion( "ICD10CM:E83.01"^^xsd:string) AnnotationAssertion( "MESH:D006527"^^xsd:string) AnnotationAssertion( "NCI:C84756"^^xsd:string) AnnotationAssertion( "Hepato Neurologic Wilson Disease"^^xsd:string) AnnotationAssertion( "Hepatocerebral Degeneration"^^xsd:string) AnnotationAssertion( "Hepatolenticular Degeneration Syndrome"^^xsd:string) AnnotationAssertion( "Kinnier Wilson Disease"^^xsd:string) AnnotationAssertion( "Kinnier-Wilson Diseases"^^xsd:string) AnnotationAssertion( "Neurohepatic Degeneration"^^xsd:string) AnnotationAssertion( "WD"^^xsd:string) AnnotationAssertion( "WND"^^xsd:string) AnnotationAssertion( "Westphal Strumpell syndrome"^^xsd:string) AnnotationAssertion( "Westphal pseudosclerosis"^^xsd:string) AnnotationAssertion( "Wilson's disease"^^xsd:string) AnnotationAssertion( "Wilsons disease"^^xsd:string) AnnotationAssertion( "cerebral pseudoscleroses"^^xsd:string) AnnotationAssertion( "cerebral pseudosclerosis"^^xsd:string) AnnotationAssertion( "copper storage disease"^^xsd:string) AnnotationAssertion( "hepatic form of Wilson disease"^^xsd:string) AnnotationAssertion( "hepato-neurologic Wilson diseases"^^xsd:string) AnnotationAssertion( "hepatocerebral degenerations"^^xsd:string) AnnotationAssertion( "hepatolenticular degeneration"^^xsd:string) AnnotationAssertion( "neurohepatic degenerations"^^xsd:string) AnnotationAssertion( "progressive lenticular degeneration"^^xsd:string) AnnotationAssertion( "pseudosclerosis"^^xsd:string) AnnotationAssertion( "Wilson disease, COMMD1 type"^^xsd:string) AnnotationAssertion( "Wilson disease, hepatic form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:893"^^xsd:string) AnnotationAssertion(rdfs:label "Wilson disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (retromolar area cancer) AnnotationAssertion( "ICD10CM:C06.2"^^xsd:string) AnnotationAssertion( "ICD9CM:145.6"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363391009"^^xsd:string) "malignant tumor of retromolar area"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8930"^^xsd:string) AnnotationAssertion(rdfs:label "retromolar area cancer"^^xsd:string) SubClassOf( ) # Class: (Evans' syndrome) AnnotationAssertion( "GARD:6389"^^xsd:string) AnnotationAssertion( "ICD10CM:D69.41"^^xsd:string) AnnotationAssertion( "ICD9CM:287.32"^^xsd:string) AnnotationAssertion( "MESH:C536380"^^xsd:string) AnnotationAssertion( "NCI:C61284"^^xsd:string) AnnotationAssertion( "Autoimmune hemolytic anemia and autoimmune thrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8931"^^xsd:string) AnnotationAssertion(rdfs:label "Evans' syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (plantar fascial fibromatosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Plantar_fibromatosis"^^xsd:string) "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000481"^^xsd:string) AnnotationAssertion( "ICD10CM:M72.2"^^xsd:string) AnnotationAssertion( "ICD9CM:728.71"^^xsd:string) AnnotationAssertion( "MESH:D000071380"^^xsd:string) AnnotationAssertion( "NCI:C4680"^^xsd:string) AnnotationAssertion( "Dupuytren's contracture of foot"^^xsd:string) AnnotationAssertion( "Ledderhose Disease"^^xsd:string) AnnotationAssertion( "Ledderhose's Disease"^^xsd:string) AnnotationAssertion( "plantar fibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8936"^^xsd:string) AnnotationAssertion(rdfs:label "plantar fascial fibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Waldeyer's ring cancer) AnnotationAssertion( "ICD10CM:C14.2"^^xsd:string) AnnotationAssertion( "ICD9CM:149.1"^^xsd:string) AnnotationAssertion( "Waldeyer ring cancer"^^xsd:string) AnnotationAssertion( "malignant neoplasm of Waldeyer's ring"^^xsd:string) AnnotationAssertion( "malignant tumor of Waldeyer's ring"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8937"^^xsd:string) AnnotationAssertion(rdfs:label "Waldeyer's ring cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (seborrheic infantile dermatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cradle_cap"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm"^^xsd:string) "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000765"^^xsd:string) AnnotationAssertion( "ICD10CM:L21.0"^^xsd:string) AnnotationAssertion( "ICD9CM:690.11"^^xsd:string) AnnotationAssertion( "complement 5 dysfunction"^^xsd:string) AnnotationAssertion( "cradle cap"^^xsd:string) AnnotationAssertion( "generalized seborrheic dermatitis of infants"^^xsd:string) AnnotationAssertion( "infantile seborrhoeic dermatitis"^^xsd:string) AnnotationAssertion( "pityriasis capitis"^^xsd:string) AnnotationAssertion( "seborrhea capitis"^^xsd:string) AnnotationAssertion( "seborrhea sicca"^^xsd:string) AnnotationAssertion( "seborrhoea capitis"^^xsd:string) AnnotationAssertion( "seborrhoeic dermatitis of scalp"^^xsd:string) AnnotationAssertion( "seborrhoeic eczema of scalp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8941"^^xsd:string) AnnotationAssertion(rdfs:label "seborrheic infantile dermatitis"^^xsd:string) SubClassOf( ) # Class: (lattice corneal dystrophy) AnnotationAssertion(Annotation( "https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm"^^xsd:string) Annotation( "https://www.omim.org/entry/122200"^^xsd:string) "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. (DO)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "LCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "familial amyloid neuropathy, Finnish type"^^xsd:string) AnnotationAssertion( "DOID:8943"^^xsd:string) AnnotationAssertion(rdfs:label "lattice corneal dystrophy"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (severe nonproliferative diabetic retinopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:362.06"^^xsd:string) AnnotationAssertion( "RDO:9002151"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:390720006"^^xsd:string) "High risk non proliferative diabetic retinopathy"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:312905005"^^xsd:string) "Severe NPDR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8946"^^xsd:string) AnnotationAssertion(rdfs:label "severe nonproliferative diabetic retinopathy"^^xsd:string) SubClassOf( ) # Class: (diabetic retinopathy) AnnotationAssertion(Annotation( "MESH:D003930"^^xsd:string) "Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION."^^xsd:string) AnnotationAssertion( "diabetic eye disease"^^xsd:string) AnnotationAssertion( "EFO:0003770"^^xsd:string) AnnotationAssertion( "EFO:0009486"^^xsd:string) AnnotationAssertion( "ICD9CM:362.0"^^xsd:string) AnnotationAssertion( "MESH:D003930"^^xsd:string) AnnotationAssertion( "NCI:C34538"^^xsd:string) AnnotationAssertion( "diabetic retinopathies"^^xsd:string) AnnotationAssertion( "retinal abnormality - diabetes-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8947"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic retinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sideroblastic anemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sideroblastic_anemia"^^xsd:string) "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003812"^^xsd:string) AnnotationAssertion( "GARD:667"^^xsd:string) AnnotationAssertion( "ICD10CM:D64.3"^^xsd:string) AnnotationAssertion( "ICD9CM:285.0"^^xsd:string) AnnotationAssertion( "MESH:D000756"^^xsd:string) AnnotationAssertion( "MIM:PS300751"^^xsd:string) AnnotationAssertion( "NCI:C36078"^^xsd:string) AnnotationAssertion( "hypochromic anemia with iron loading"^^xsd:string) AnnotationAssertion( "sideroblastic anemias"^^xsd:string) AnnotationAssertion( "RARS"^^xsd:string) AnnotationAssertion( "RARS-T"^^xsd:string) AnnotationAssertion( "SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC"^^xsd:string) AnnotationAssertion( "refractory anaemia with ringed sideroblasts"^^xsd:string) AnnotationAssertion( "refractory anaemia with sideroblasts"^^xsd:string) AnnotationAssertion( "refractory anemia with ring sideroblasts and thrombocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8955"^^xsd:string) AnnotationAssertion(rdfs:label "sideroblastic anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cowpox) AnnotationAssertion(Annotation( "https://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov"^^xsd:string) "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007225"^^xsd:string) AnnotationAssertion( "ICD10CM:B08.010"^^xsd:string) AnnotationAssertion( "ICD9CM:051.01"^^xsd:string) AnnotationAssertion( "MESH:D015605"^^xsd:string) AnnotationAssertion( "cow pox"^^xsd:string) AnnotationAssertion( "yaba"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8956"^^xsd:string) AnnotationAssertion(rdfs:label "cowpox"^^xsd:string) SubClassOf( ) # Class: (metal metabolism disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism"^^xsd:string) "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008664"^^xsd:string) AnnotationAssertion( "Metal Metabolism, Inborn Error"^^xsd:string) AnnotationAssertion( "Metal Metabolism, Inborn Errors"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:4000-0215"^^xsd:string) "inborn metal metabolism disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:896"^^xsd:string) AnnotationAssertion(rdfs:label "metal metabolism disorder"^^xsd:string) SubClassOf( ) # Class: (tonsillar fossa cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C09.0"^^xsd:string) AnnotationAssertion( "ICD9CM:146.1"^^xsd:string) AnnotationAssertion( "malignant neoplasm of tonsillar fossa"^^xsd:string) AnnotationAssertion( "malignant tumor of tonsillar fossa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8969"^^xsd:string) AnnotationAssertion(rdfs:label "tonsillar fossa cancer"^^xsd:string) SubClassOf( ) # Class: (subacute sclerosing panencephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis"^^xsd:string) "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. (DO)"^^xsd:string) AnnotationAssertion( "MIM:260470"^^xsd:string) AnnotationAssertion( "EFO:0007502"^^xsd:string) AnnotationAssertion( "GARD:7708"^^xsd:string) AnnotationAssertion( "ICD10CM:A81.1"^^xsd:string) AnnotationAssertion( "ICD9CM:046.2"^^xsd:string) AnnotationAssertion( "MESH:D013344"^^xsd:string) AnnotationAssertion( "NCI:C85171"^^xsd:string) AnnotationAssertion( "SSPE"^^xsd:string) AnnotationAssertion( "Van Bogaert leukoencephalitis"^^xsd:string) AnnotationAssertion( "Van Bogaert's leukoencephalitis"^^xsd:string) AnnotationAssertion( "Van Bogaert's sclerosing leukoencephalitis"^^xsd:string) AnnotationAssertion( "Van Bogaerts leukoencephalitis"^^xsd:string) AnnotationAssertion( "immunosuppressive measles encephalitis"^^xsd:string) AnnotationAssertion( "inclusion body encephalitis, measles"^^xsd:string) AnnotationAssertion( "subacute sclerosing leukoencephalitides"^^xsd:string) AnnotationAssertion( "subacute sclerosing leukoencephalitis"^^xsd:string) AnnotationAssertion( "subacute sclerosing leukoencephalopathy"^^xsd:string) AnnotationAssertion( "subacute sclerosing panencephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8970"^^xsd:string) AnnotationAssertion(rdfs:label "subacute sclerosing panencephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (autosomal dominant polycystic kidney disease) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease"^^xsd:string) "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001496"^^xsd:string) AnnotationAssertion( "GARD:7419"^^xsd:string) AnnotationAssertion( "ICD10CM:Q61.3"^^xsd:string) AnnotationAssertion( "ICD9CM:753.12"^^xsd:string) AnnotationAssertion( "MESH:D016891"^^xsd:string) AnnotationAssertion( "NCI:C84578"^^xsd:string) AnnotationAssertion( "ORDO:730"^^xsd:string) AnnotationAssertion( "ADPKD"^^xsd:string) AnnotationAssertion( "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1"^^xsd:string) AnnotationAssertion( "adult polycystic kidney disease"^^xsd:string) AnnotationAssertion( "congenital biliary ectasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:898"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal dominant polycystic kidney disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (narcolepsy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Narcolepsy"^^xsd:string) "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. (DO)"^^xsd:string) AnnotationAssertion( "MIM:605841"^^xsd:string) AnnotationAssertion( "MIM:609039"^^xsd:string) AnnotationAssertion( "MIM:612417"^^xsd:string) AnnotationAssertion( "MIM:612851"^^xsd:string) AnnotationAssertion( "MIM:614223"^^xsd:string) AnnotationAssertion( "OMIA:000703"^^xsd:string) AnnotationAssertion( "EFO:0005855"^^xsd:string) AnnotationAssertion( "GARD:7162"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.41"^^xsd:string) AnnotationAssertion( "ICD9CM:347.0"^^xsd:string) AnnotationAssertion( "MESH:D009290"^^xsd:string) AnnotationAssertion( "MIM:PS161400"^^xsd:string) AnnotationAssertion( "NCI:C84489"^^xsd:string) AnnotationAssertion( "ORDO:2073"^^xsd:string) AnnotationAssertion( "Gelineau Syndrome"^^xsd:string) AnnotationAssertion( "Gelineau's Syndrome"^^xsd:string) AnnotationAssertion( "Gelineau's syndromes"^^xsd:string) AnnotationAssertion( "Gelineaus Syndrome"^^xsd:string) AnnotationAssertion( "Narcoleptic Syndrome"^^xsd:string) AnnotationAssertion( "Narcoleptic Syndromes"^^xsd:string) AnnotationAssertion( "paroxysmal sleep"^^xsd:string) AnnotationAssertion( "NARCOLEPSY 2, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NARCOLEPSY 3"^^xsd:string) AnnotationAssertion( "NRCLP2"^^xsd:string) AnnotationAssertion( "NRCLP3"^^xsd:string) AnnotationAssertion( "NRCLP4"^^xsd:string) AnnotationAssertion( "NRCLP5"^^xsd:string) AnnotationAssertion( "NRCLP6"^^xsd:string) AnnotationAssertion( "Narcolepsy, without cataplexy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NARCOLEPSY 4, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NARCOLEPSY 5, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NARCOLEPSY 6, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:8986"^^xsd:string) AnnotationAssertion(rdfs:label "narcolepsy"^^xsd:string) SubClassOf( ) # Class: (choledochal cyst) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/35212316/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK557762/"^^xsd:string) "A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "MIM:603003"^^xsd:string) AnnotationAssertion( "GARD:9229"^^xsd:string) AnnotationAssertion( "ICD10CM:Q44.4"^^xsd:string) AnnotationAssertion( "MESH:D015529"^^xsd:string) AnnotationAssertion( "NCI:C2943"^^xsd:string) AnnotationAssertion( "ORDO:480501"^^xsd:string) AnnotationAssertion( "Bile Duct Cyst"^^xsd:string) AnnotationAssertion( "Choledochal Cyst, Type I"^^xsd:string) AnnotationAssertion( "Choledochal Cyst, Type II"^^xsd:string) AnnotationAssertion( "Choledochal Cyst, Type III"^^xsd:string) AnnotationAssertion( "Choledochal Cyst, Type IV"^^xsd:string) AnnotationAssertion( "Choledochal Cyst, Type V"^^xsd:string) AnnotationAssertion( "Choledochal Cysts"^^xsd:string) AnnotationAssertion( "Choledochal Diverticulum"^^xsd:string) AnnotationAssertion( "Choledochal Diverticulums"^^xsd:string) AnnotationAssertion( "Choledochocele"^^xsd:string) AnnotationAssertion( "Choledochoceles"^^xsd:string) AnnotationAssertion( "Common Bile Duct Cyst"^^xsd:string) AnnotationAssertion( "Congenital Choledochal Cyst"^^xsd:string) AnnotationAssertion( "Congenital Choledochal Cysts"^^xsd:string) AnnotationAssertion( "Cysts, Common Bile Duct"^^xsd:string) AnnotationAssertion( "Diverticulum Choledochal Cyst"^^xsd:string) AnnotationAssertion( "Diverticulum Choledochal Cysts"^^xsd:string) AnnotationAssertion( "Intrahepatic Choledochal Cyst"^^xsd:string) AnnotationAssertion( "Intrahepatic Choledochal Cysts"^^xsd:string) AnnotationAssertion( "Multiple Choledochal Cyst"^^xsd:string) AnnotationAssertion( "bile duct cysts"^^xsd:string) AnnotationAssertion( "biliary cyst"^^xsd:string) AnnotationAssertion( "multiple choledochal cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:899"^^xsd:string) AnnotationAssertion(rdfs:label "choledochal cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cervix uteri carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/"^^xsd:string) "An uterus carcinoma in situ that is located_in the uterine cervix. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D06"^^xsd:string) AnnotationAssertion( "ICD9CM:233.1"^^xsd:string) AnnotationAssertion( "MESH:D002578"^^xsd:string) AnnotationAssertion( "NCI:C3782"^^xsd:string) AnnotationAssertion( "NCI:C4000"^^xsd:string) AnnotationAssertion( "CIN III"^^xsd:string) AnnotationAssertion( "CIN III - carcinoma in situ of cervix"^^xsd:string) AnnotationAssertion( "CIN III - severe dyskaryosis"^^xsd:string) AnnotationAssertion( "Cervical Intraepithelial Neoplasia, Grade III"^^xsd:string) AnnotationAssertion( "Cervical Intraepithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Cervical Intraepithelial Neoplasms"^^xsd:string) AnnotationAssertion( "carcinoma in situ of cervix"^^xsd:string) AnnotationAssertion( "carcinoma in situ of uterine cervix"^^xsd:string) AnnotationAssertion( "carcinoma of cervix stage 0"^^xsd:string) AnnotationAssertion( "cervical intraepithelial neoplasia"^^xsd:string) AnnotationAssertion( "cervical intraepithelial neoplasia grade III with severe dysplasia"^^xsd:string) AnnotationAssertion( "cervix Ca in situ"^^xsd:string) AnnotationAssertion( "severe dysplasia of cervix"^^xsd:string) AnnotationAssertion( "severe dysplasia of the cervix uteri"^^xsd:string) AnnotationAssertion( "squamous intraepithelial neoplasia, grade III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:8991"^^xsd:string) AnnotationAssertion(rdfs:label "cervix uteri carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polycythemia vera) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polycythemia_vera"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850"^^xsd:string) "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. (DO)"^^xsd:string) AnnotationAssertion( "DOID:11868"^^xsd:string) AnnotationAssertion( "MIM:263300"^^xsd:string) AnnotationAssertion( "EFO:0002429"^^xsd:string) AnnotationAssertion( "GARD:7422"^^xsd:string) AnnotationAssertion( "ICD10CM:D45"^^xsd:string) AnnotationAssertion( "ICD9CM:207.1"^^xsd:string) AnnotationAssertion( "ICD9CM:238.4"^^xsd:string) AnnotationAssertion( "ICDO:9950/3"^^xsd:string) AnnotationAssertion( "MESH:D011087"^^xsd:string) AnnotationAssertion( "NCI:C3336"^^xsd:string) AnnotationAssertion( "Osler-Vaquez disease"^^xsd:string) AnnotationAssertion( "Osler-Vaquez syndrome"^^xsd:string) AnnotationAssertion( "PRV"^^xsd:string) AnnotationAssertion( "PV"^^xsd:string) AnnotationAssertion( "chronic erythremia"^^xsd:string) AnnotationAssertion( "erythremia"^^xsd:string) AnnotationAssertion( "erythremias"^^xsd:string) AnnotationAssertion( "polycythaemia rubra vera"^^xsd:string) AnnotationAssertion( "polycythemia ruba vera"^^xsd:string) AnnotationAssertion( "polycythemia ruba veras"^^xsd:string) AnnotationAssertion( "polycythemia rubra vera"^^xsd:string) AnnotationAssertion( "polycythemia rubra veras"^^xsd:string) AnnotationAssertion( "proliferative polycythaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN VILLEJUIF"^^xsd:string) AnnotationAssertion( "DOID:8997"^^xsd:string) AnnotationAssertion(rdfs:label "polycythemia vera"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (degenerative disc disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Degenerative_disc_disease"^^xsd:string) Annotation( "http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx"^^xsd:string) "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004994"^^xsd:string) AnnotationAssertion( "EFO:0009537"^^xsd:string) AnnotationAssertion( "MESH:D055959"^^xsd:string) AnnotationAssertion( "NCI:C27156"^^xsd:string) AnnotationAssertion( "Degenerative Intervertebral Disc"^^xsd:string) AnnotationAssertion( "Degenerative Intervertebral Disk"^^xsd:string) AnnotationAssertion( "Disc Degeneration"^^xsd:string) AnnotationAssertion( "Disc Degenerations"^^xsd:string) AnnotationAssertion( "Disc Degradation"^^xsd:string) AnnotationAssertion( "Disc Degradations"^^xsd:string) AnnotationAssertion( "Disk Degeneration"^^xsd:string) AnnotationAssertion( "Disk Degenerations"^^xsd:string) AnnotationAssertion( "Disk Degradation"^^xsd:string) AnnotationAssertion( "Disk Degradations"^^xsd:string) AnnotationAssertion( "Intervertebral Disc Degeneration"^^xsd:string) AnnotationAssertion( "Intervertebral Disc Degenerations"^^xsd:string) AnnotationAssertion( "degenerative intervertebral discs"^^xsd:string) AnnotationAssertion( "degenerative intervertebral disks"^^xsd:string) AnnotationAssertion( "intervertebral disc degradation"^^xsd:string) AnnotationAssertion( "intervertebral disk degeneration"^^xsd:string) AnnotationAssertion( "intervertebral disk degenerations"^^xsd:string) AnnotationAssertion( "vertebral disc disease"^^xsd:string) AnnotationAssertion( "cervical disc degenerative disease"^^xsd:string) AnnotationAssertion( "lumbar disc degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:90"^^xsd:string) AnnotationAssertion(rdfs:label "degenerative disc disease"^^xsd:string) SubClassOf( ) # Class: (hepatopulmonary syndrome) AnnotationAssertion(Annotation( "MESH:D020065"^^xsd:string) "A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)."^^xsd:string) AnnotationAssertion( "EFO:1001346"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.81"^^xsd:string) AnnotationAssertion( "ICD9CM:573.5"^^xsd:string) AnnotationAssertion( "MESH:D020065"^^xsd:string) AnnotationAssertion( "Hepato Pulmonary Syndrome"^^xsd:string) AnnotationAssertion( "Hepato-Pulmonary Syndromes"^^xsd:string) AnnotationAssertion( "Hepatopulmonary Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:900"^^xsd:string) AnnotationAssertion(rdfs:label "hepatopulmonary syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leukemia L1210) AnnotationAssertion(Annotation( "MESH:D007939"^^xsd:string) "An experimental LYMPHOCYTIC LEUKEMIA of mice."^^xsd:string) AnnotationAssertion( "MESH:D007939"^^xsd:string) AnnotationAssertion( "Leukemia L 1210"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000002"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemia L1210"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Optic Atrophy with Demyelinating Disease of CNS) AnnotationAssertion( "MESH:C563496"^^xsd:string) AnnotationAssertion( "RDO:0012738"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000004"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy with Demyelinating Disease of CNS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Supraventricular Tachycardia) AnnotationAssertion(Annotation( "MESH:D013617"^^xsd:string) "A generic expression for any tachycardia that originates above the BUNDLE OF HIS."^^xsd:string) AnnotationAssertion( "MESH:D013617"^^xsd:string) AnnotationAssertion( "Supraventricular Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000006"^^xsd:string) AnnotationAssertion(rdfs:label "Supraventricular Tachycardia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 1, Monosomy 1p32) AnnotationAssertion( "MESH:C535594"^^xsd:string) AnnotationAssertion( "RDO:0000812"^^xsd:string) AnnotationAssertion( "Deletion 1p32"^^xsd:string) AnnotationAssertion( "Monosomy 1p32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000009"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1p32"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Gallbladder Neoplasms) AnnotationAssertion(Annotation( "MESH:D005706"^^xsd:string) "Tumors or cancer of the gallbladder."^^xsd:string) AnnotationAssertion( "EFO:0004606"^^xsd:string) AnnotationAssertion( "MESH:D005706"^^xsd:string) AnnotationAssertion( "gallbladder neoplasm"^^xsd:string) AnnotationAssertion( "tumor of the gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000011"^^xsd:string) AnnotationAssertion(rdfs:label "Gallbladder Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fracture Dislocation) AnnotationAssertion(Annotation( "MESH:D000072039"^^xsd:string) "Fracture of a bone near an articulation with concomitant dislocation of that joint."^^xsd:string) AnnotationAssertion( "MESH:D000072039"^^xsd:string) AnnotationAssertion( "Dislocation Fractures"^^xsd:string) AnnotationAssertion( "Fracture Dislocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000012"^^xsd:string) AnnotationAssertion(rdfs:label "Fracture Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Peritoneal Carcinomatosis) AnnotationAssertion(Annotation( "ISBN-13:978-0781733908"^^xsd:string) Annotation( "https://www.webmd.com"^^xsd:string) "This neoplastic disease most often develops when other abdominal epithelial tumors spread to the peritoneum, leading to multiple new tumors on the surface of this membrane. Peritoneal carcinomatosis generally means that abdominal cancer is in an advanced stage. There are also very rare cases of primary peritoneal carcinomatosis, which begins in the peritoneum itself."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-21T18:13:26Z"^^xsd:string) AnnotationAssertion( "PMID:28439450"^^xsd:string) AnnotationAssertion( "Carcinomatosis of peritoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000016"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Carcinomatosis"^^xsd:string) SubClassOf( ) # Class: (Devriendt syndrome) AnnotationAssertion( "MIM:610136"^^xsd:string) AnnotationAssertion( "MESH:C535947"^^xsd:string) AnnotationAssertion( "RDO:0001326"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000017"^^xsd:string) AnnotationAssertion(rdfs:label "Devriendt syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Coronary Vessel Anomalies) AnnotationAssertion(Annotation( "MESH:D003330"^^xsd:string) "Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others."^^xsd:string) AnnotationAssertion( "MESH:D003330"^^xsd:string) AnnotationAssertion( "Coronary Vessel Anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000018"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Vessel Anomalies"^^xsd:string) SubClassOf( ) # Class: (Attention Deficit-Hyperactivity Disorder 8) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T11:35:37Z"^^xsd:string) AnnotationAssertion( "MIM:619957"^^xsd:string) AnnotationAssertion( "ADHD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000019"^^xsd:string) AnnotationAssertion(rdfs:label "Attention Deficit-Hyperactivity Disorder 8"^^xsd:string) SubClassOf( ) # Class: (Fabry Disease, Cardiac Variant) AnnotationAssertion(Annotation( "MESH:C567062"^^xsd:string) "A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008"^^xsd:string) AnnotationAssertion( "MESH:C567062"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000020"^^xsd:string) AnnotationAssertion(rdfs:label "Fabry Disease, Cardiac Variant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Plantar Fibromatosis) AnnotationAssertion( "RDO:0013822"^^xsd:string) AnnotationAssertion( "MESH:C565084"^^xsd:string) AnnotationAssertion( "Plantar fibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ledderhose disease"^^xsd:string) AnnotationAssertion( "DOID:9000021"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Plantar Fibromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals) AnnotationAssertion( "MIM:609655"^^xsd:string) AnnotationAssertion( "MESH:C536894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000022"^^xsd:string) AnnotationAssertion(rdfs:label "Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Camurati Engelmann Disease, Type 2) AnnotationAssertion( "MIM:606631"^^xsd:string) AnnotationAssertion( "RDO:0003906"^^xsd:string) AnnotationAssertion( "RDO:0013562"^^xsd:string) AnnotationAssertion( "MESH:C537978"^^xsd:string) AnnotationAssertion( "MESH:C564689"^^xsd:string) AnnotationAssertion( "Camurati-Engelmann Disease, Type II"^^xsd:string) AnnotationAssertion( "Progressive diaphyseal dysplasia with striations of the bones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000023"^^xsd:string) AnnotationAssertion(rdfs:label "Camurati Engelmann Disease, Type 2"^^xsd:string) SubClassOf( ) # Class: (Norwalk Virus Infections) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Norwalk virus infection, resistance to"^^xsd:string) AnnotationAssertion( "SECRETOR/NONSECRETOR POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:9000024"^^xsd:string) AnnotationAssertion(rdfs:label "Norwalk Virus Infections"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Infections) AnnotationAssertion( "Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process."^^xsd:string) AnnotationAssertion( "EFO:1001456"^^xsd:string) AnnotationAssertion( "MESH:D002494"^^xsd:string) AnnotationAssertion( "Central Nervous System Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000025"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microsatellite Instability) AnnotationAssertion(Annotation( "MESH:D053842"^^xsd:string) "The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR."^^xsd:string) AnnotationAssertion( "MESH:D053842"^^xsd:string) AnnotationAssertion( "RDO:0007641"^^xsd:string) AnnotationAssertion( "Replication Error Phenotype"^^xsd:string) AnnotationAssertion( "Replication Error Phenotypes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000027"^^xsd:string) AnnotationAssertion(rdfs:label "Microsatellite Instability"^^xsd:string) SubClassOf( ) # Class: (Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia) AnnotationAssertion( "MIM:251240"^^xsd:string) AnnotationAssertion( "MESH:C565381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000028"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation) AnnotationAssertion( "MIM:204850"^^xsd:string) AnnotationAssertion( "MESH:C565958"^^xsd:string) AnnotationAssertion( "amyloidosis of gingiva and conjunctiva with impaired intellectual development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000029"^^xsd:string) AnnotationAssertion(rdfs:label "Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radial Ray Hypoplasia Choanal Atresia) AnnotationAssertion( "MIM:179270"^^xsd:string) AnnotationAssertion( "MESH:C536263"^^xsd:string) AnnotationAssertion( "Radial Ray Hypoplasia with Choanal Atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000030"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Ray Hypoplasia Choanal Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Graham-Boyle-Troxell Syndrome) AnnotationAssertion( "GARD:2557"^^xsd:string) AnnotationAssertion( "MESH:C537292"^^xsd:string) AnnotationAssertion( "MONDO:0023275"^^xsd:string) AnnotationAssertion( "ORDO:2111"^^xsd:string) AnnotationAssertion( "Cystic hamartoma of lung and kidney"^^xsd:string) AnnotationAssertion( "Cystic hamartomata of lung and kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000032"^^xsd:string) AnnotationAssertion(rdfs:label "Graham-Boyle-Troxell Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sakoda Complex) AnnotationAssertion( "MIM:610871"^^xsd:string) AnnotationAssertion( "MESH:C567055"^^xsd:string) AnnotationAssertion( "Sakoda Spectrum"^^xsd:string) AnnotationAssertion( "Sphenoethmoidal Encephalomeningocele, Agenesis of the Corpus Callosum, and Cleft Lip-Palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000033"^^xsd:string) AnnotationAssertion(rdfs:label "Sakoda Complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 10q Duplication Syndrome) AnnotationAssertion( "MESH:C537804"^^xsd:string) AnnotationAssertion( "10q Partial trisomy"^^xsd:string) AnnotationAssertion( "10q duplication syndrome"^^xsd:string) AnnotationAssertion( "Trisomy 10q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000034"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10q Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Effusion Lymphoma) AnnotationAssertion(Annotation( "MESH:D054685"^^xsd:string) "A rare neoplasm of large B-cells usually presenting as serious effusions without detectable tumor masses. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. It is associated with HUMAN HERPESVIRUS 8, most often occurring in the setting of immunodeficiency."^^xsd:string) AnnotationAssertion( "EFO:1000491"^^xsd:string) AnnotationAssertion( "MESH:D054685"^^xsd:string) AnnotationAssertion( "NCI:C6915"^^xsd:string) AnnotationAssertion( "Primary Effusion Lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000035"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Effusion Lymphoma"^^xsd:string) SubClassOf( ) # Class: (Cornual Pregnancy) AnnotationAssertion(Annotation( "MESH:D065173"^^xsd:string) "A type of pregnancy in which the EMBRYO IMPLANTATION occurs in the horn of the UTERUS instead of in the uterine cavity, i.e. at the junction of the uterus and one of the FALLOPIAN TUBES."^^xsd:string) AnnotationAssertion( "MESH:D065173"^^xsd:string) AnnotationAssertion( "Cornual Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000036"^^xsd:string) AnnotationAssertion(rdfs:label "Cornual Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Malformation 10) AnnotationAssertion( "An autosomal dominant disorder characterized by onset of lymphedema within the first year of life, primarily involving the lower extremities although it also may appear in the neck, upper extremities, and scrotum or labia majora. Caused by heterozygous mutation in the ANGPT2 gene on chromosome 8p23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-04T11:50:05Z"^^xsd:string) AnnotationAssertion( "MIM:619369"^^xsd:string) AnnotationAssertion( "LMPHM10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000037"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 10"^^xsd:string) SubClassOf( ) # Class: (Urban Schosser Spohn Syndrome) AnnotationAssertion( "MIM:158310"^^xsd:string) AnnotationAssertion( "MESH:C536476"^^xsd:string) AnnotationAssertion( "HMD"^^xsd:string) AnnotationAssertion( "Hereditary mucoepithelial dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000038"^^xsd:string) AnnotationAssertion(rdfs:label "Urban Schosser Spohn Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spinal Cord Injuries) AnnotationAssertion(Annotation( "MESH:D013119"^^xsd:string) "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)."^^xsd:string) AnnotationAssertion( "EFO:1001919"^^xsd:string) AnnotationAssertion( "MESH:D013119"^^xsd:string) AnnotationAssertion( "RDO:0006597"^^xsd:string) AnnotationAssertion( "Post Traumatic Myelopathy"^^xsd:string) AnnotationAssertion( "Post-Traumatic Myelopathies"^^xsd:string) AnnotationAssertion( "Spinal Cord Contusion"^^xsd:string) AnnotationAssertion( "Spinal Cord Contusions"^^xsd:string) AnnotationAssertion( "Spinal Cord Injury"^^xsd:string) AnnotationAssertion( "Spinal Cord Laceration"^^xsd:string) AnnotationAssertion( "Spinal Cord Lacerations"^^xsd:string) AnnotationAssertion( "Spinal Cord Transection"^^xsd:string) AnnotationAssertion( "Spinal Cord Transections"^^xsd:string) AnnotationAssertion( "Spinal Cord Trauma"^^xsd:string) AnnotationAssertion( "Spinal Cord Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Myelopathies"^^xsd:string) AnnotationAssertion( "Traumatic Myelopathy"^^xsd:string) AnnotationAssertion( "acute spinal cord injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000039"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypertrophy) AnnotationAssertion(Annotation( "MESH:D006984"^^xsd:string) "General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA)."^^xsd:string) AnnotationAssertion( "EFO:0002460"^^xsd:string) AnnotationAssertion( "MESH:D006984"^^xsd:string) AnnotationAssertion( "RDO:0001544"^^xsd:string) AnnotationAssertion( "Hypertrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000040"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophy"^^xsd:string) SubClassOf( ) # Class: (Fetal Weight) AnnotationAssertion(Annotation( "MESH:D020567"^^xsd:string) "The weight of the FETUS in utero. It is usually estimated by various formulas based on measurements made during PRENATAL ULTRASONOGRAPHY."^^xsd:string) AnnotationAssertion( "MESH:D020567"^^xsd:string) AnnotationAssertion( "RDO:0007421"^^xsd:string) AnnotationAssertion( "Fetal Body Weight"^^xsd:string) AnnotationAssertion( "Fetal Body Weights"^^xsd:string) AnnotationAssertion( "Fetal Weights"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000041"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Weight"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas) AnnotationAssertion( "MIM:600419"^^xsd:string) AnnotationAssertion( "MESH:C563940"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000043"^^xsd:string) AnnotationAssertion(rdfs:label "Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Al Gazali Hirschsprung Syndrome) AnnotationAssertion( "MIM:235760"^^xsd:string) AnnotationAssertion( "MESH:C535615"^^xsd:string) AnnotationAssertion( "Al Gazali Donnai Mueller syndrome"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features"^^xsd:string) AnnotationAssertion( "Hirschsprung's disease, hypoplastic nails, and dysmorphic facial features"^^xsd:string) AnnotationAssertion( "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000044"^^xsd:string) AnnotationAssertion(rdfs:label "Al Gazali Hirschsprung Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (De Hauwere syndrome) AnnotationAssertion( "MIM:109120"^^xsd:string) AnnotationAssertion( "MESH:C566234"^^xsd:string) AnnotationAssertion( "Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities"^^xsd:string) AnnotationAssertion( "Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000045"^^xsd:string) AnnotationAssertion(rdfs:label "De Hauwere syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Poisoning) AnnotationAssertion(Annotation( "MESH:D011041"^^xsd:string) "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent."^^xsd:string) AnnotationAssertion( "EFO:0008546"^^xsd:string) AnnotationAssertion( "MESH:D011041"^^xsd:string) AnnotationAssertion( "Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Benzene toxicity, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9000046"^^xsd:string) AnnotationAssertion(rdfs:label "Poisoning"^^xsd:string) SubClassOf( ) # Class: (Dystonia with Ringbinden) AnnotationAssertion( "MIM:224550"^^xsd:string) AnnotationAssertion( "MESH:C565608"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000047"^^xsd:string) AnnotationAssertion(rdfs:label "Dystonia with Ringbinden"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thymic Epithelial Tumor) AnnotationAssertion( "MESH:C536905"^^xsd:string) AnnotationAssertion( "Epithelial tumor of thymus"^^xsd:string) AnnotationAssertion( "Thymoma, adult"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000048"^^xsd:string) AnnotationAssertion(rdfs:label "Thymic Epithelial Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deoxyribose-5-Phosphate Aldolase Deficiency) AnnotationAssertion( "MIM:125460"^^xsd:string) AnnotationAssertion( "MESH:C565112"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000049"^^xsd:string) AnnotationAssertion(rdfs:label "Deoxyribose-5-Phosphate Aldolase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency) AnnotationAssertion( "MIM:602199"^^xsd:string) AnnotationAssertion( "MESH:C566566"^^xsd:string) AnnotationAssertion( "MCKAT deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000050"^^xsd:string) AnnotationAssertion(rdfs:label "Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY) AnnotationAssertion(Annotation( "MIM:619859"^^xsd:string) "This disease is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-07-07T10:30:35Z"^^xsd:string) AnnotationAssertion( "MIM:619859"^^xsd:string) AnnotationAssertion( "PAICSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000051"^^xsd:string) AnnotationAssertion(rdfs:label "PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Breech Presentation) AnnotationAssertion(Annotation( "MESH:D001946"^^xsd:string) "A malpresentation of the FETUS at near term or during OBSTETRIC LABOR with the fetal cephalic pole in the fundus of the UTERUS. There are three types of breech: the complete breech with flexed hips and knees; the incomplete breech with one or both hips partially or fully extended; the frank breech with flexed hips and extended knees."^^xsd:string) AnnotationAssertion( "MESH:D001946"^^xsd:string) AnnotationAssertion( "RDO:0005062"^^xsd:string) AnnotationAssertion( "Breech Fetal Presentation"^^xsd:string) AnnotationAssertion( "Breech Labor Presentation"^^xsd:string) AnnotationAssertion( "Complete Breech"^^xsd:string) AnnotationAssertion( "Frank Breech Presentation"^^xsd:string) AnnotationAssertion( "Incomplete Breech"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000052"^^xsd:string) AnnotationAssertion(rdfs:label "Breech Presentation"^^xsd:string) SubClassOf( ) # Class: (Headache) AnnotationAssertion(Annotation( "MESH:D006261"^^xsd:string) "The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS."^^xsd:string) AnnotationAssertion( "MESH:D006261"^^xsd:string) AnnotationAssertion( "Bilateral Headache"^^xsd:string) AnnotationAssertion( "Bilateral Headaches"^^xsd:string) AnnotationAssertion( "Cephalalgia"^^xsd:string) AnnotationAssertion( "Cephalalgias"^^xsd:string) AnnotationAssertion( "Cephalgia"^^xsd:string) AnnotationAssertion( "Cephalgias"^^xsd:string) AnnotationAssertion( "Cephalodynia"^^xsd:string) AnnotationAssertion( "Cephalodynias"^^xsd:string) AnnotationAssertion( "Cranial Pain"^^xsd:string) AnnotationAssertion( "Cranial Pains"^^xsd:string) AnnotationAssertion( "Generalized Headache"^^xsd:string) AnnotationAssertion( "Generalized Headaches"^^xsd:string) AnnotationAssertion( "Head Pain"^^xsd:string) AnnotationAssertion( "Head Pains"^^xsd:string) AnnotationAssertion( "Headaches"^^xsd:string) AnnotationAssertion( "Hemicrania"^^xsd:string) AnnotationAssertion( "Ocular Headache"^^xsd:string) AnnotationAssertion( "Ocular Headaches"^^xsd:string) AnnotationAssertion( "Orthostatic Headache"^^xsd:string) AnnotationAssertion( "Orthostatic Headaches"^^xsd:string) AnnotationAssertion( "Periorbital Headache"^^xsd:string) AnnotationAssertion( "Periorbital Headaches"^^xsd:string) AnnotationAssertion( "Retro Ocular Headache"^^xsd:string) AnnotationAssertion( "Retro-Ocular Headaches"^^xsd:string) AnnotationAssertion( "Sharp Headache"^^xsd:string) AnnotationAssertion( "Sharp Headaches"^^xsd:string) AnnotationAssertion( "Throbbing Headache"^^xsd:string) AnnotationAssertion( "Throbbing Headaches"^^xsd:string) AnnotationAssertion( "Unilateral Headache"^^xsd:string) AnnotationAssertion( "Unilateral Headaches"^^xsd:string) AnnotationAssertion( "Vertex Headache"^^xsd:string) AnnotationAssertion( "Vertex Headaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000053"^^xsd:string) AnnotationAssertion(rdfs:label "Headache"^^xsd:string) SubClassOf( ) # Class: (Drug-Induced Akathisia) AnnotationAssertion(Annotation( "MESH:D017109"^^xsd:string) "A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move."^^xsd:string) AnnotationAssertion( "EFO:1000903"^^xsd:string) AnnotationAssertion( "MESH:D017109"^^xsd:string) AnnotationAssertion( "Drug-Induced Acathisia"^^xsd:string) AnnotationAssertion( "Pseudoakathisia"^^xsd:string) AnnotationAssertion( "Tardive Akathisia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000054"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Akathisia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myelolipoma) AnnotationAssertion(Annotation( "MESH:D018209"^^xsd:string) "A rare benign tumor of the adrenal gland, several centimeters in diameter, composed in varying proportions of adipose tissue, lymphocytes, and primitive myeloid cells, probably a developmental abnormality. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000074"^^xsd:string) AnnotationAssertion( "MESH:D018209"^^xsd:string) AnnotationAssertion( "Myelolipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000055"^^xsd:string) AnnotationAssertion(rdfs:label "Myelolipoma"^^xsd:string) SubClassOf( ) # Class: (IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION) AnnotationAssertion( "MIM:260570"^^xsd:string) AnnotationAssertion( "CEBPE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564899"^^xsd:string) AnnotationAssertion( "IMD108"^^xsd:string) AnnotationAssertion( "Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain"^^xsd:string) AnnotationAssertion( "immunodeficiency-108 with autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000056"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism Type IB2, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:620125"^^xsd:string) "A pseudohypoaldosteronism characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. Caused by homozygous mutation in the beta subunit of the epithelial sodium channel (ENaC), SCNN1B, on chromosome 16p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-05T08:43:34Z"^^xsd:string) AnnotationAssertion( "MIM:620125"^^xsd:string) AnnotationAssertion( "PHA1B2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000057"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism Type IB2, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Keloid) AnnotationAssertion(Annotation( "MESH:D007627"^^xsd:string) "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues."^^xsd:string) AnnotationAssertion( "MIM:148100"^^xsd:string) AnnotationAssertion( "EFO:0004212"^^xsd:string) AnnotationAssertion( "MESH:D007627"^^xsd:string) AnnotationAssertion( "KLDF"^^xsd:string) AnnotationAssertion( "Keloids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "keloid formation"^^xsd:string) AnnotationAssertion( "DOID:9000058"^^xsd:string) AnnotationAssertion(rdfs:label "Keloid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Long QT Syndrome 2/5) AnnotationAssertion( "RDO:0015022"^^xsd:string) AnnotationAssertion( "MESH:C566765"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 2/5, DIGENIC"^^xsd:string) AnnotationAssertion( "LQT2/5, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000059"^^xsd:string) AnnotationAssertion(rdfs:label "Long QT Syndrome 2/5"^^xsd:string) SubClassOf( ) # Class: (Cardiac Conduction Defect, Nonspecific) AnnotationAssertion( "RDO:0015606"^^xsd:string) AnnotationAssertion( "MESH:C567557"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000060"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Conduction Defect, Nonspecific"^^xsd:string) SubClassOf( ) # Class: (Cote Katsantoni Syndrome) AnnotationAssertion( "MESH:C536449"^^xsd:string) AnnotationAssertion( "RDO:0002043"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000061"^^xsd:string) AnnotationAssertion(rdfs:label "Cote Katsantoni Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retinal Hemorrhage) AnnotationAssertion(Annotation( "MESH:D012166"^^xsd:string) "Bleeding from the vessels of the retina."^^xsd:string) AnnotationAssertion( "MESH:D012166"^^xsd:string) AnnotationAssertion( "Retinal Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000062"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Granulocytic Sarcoma) AnnotationAssertion( "EFO:1000286"^^xsd:string) AnnotationAssertion( "MESH:C536413"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000063"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Granulocytic Sarcoma"^^xsd:string) SubClassOf( ) # Class: (Cardiac Arrhythmias) AnnotationAssertion(Annotation( "MESH:D001145"^^xsd:string) "Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction."^^xsd:string) AnnotationAssertion( "MIM:115000"^^xsd:string) AnnotationAssertion( "RYR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0004269"^^xsd:string) AnnotationAssertion( "MESH:D001145"^^xsd:string) AnnotationAssertion( "Arrhythmia"^^xsd:string) AnnotationAssertion( "Arrythmia"^^xsd:string) AnnotationAssertion( "Cardiac Arrhythmia"^^xsd:string) AnnotationAssertion( "Cardiac Dysrhythmia"^^xsd:string) AnnotationAssertion( "VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000064"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Arrhythmias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 25, Autosomal Dominant) AnnotationAssertion( "MIM:617238"^^xsd:string) AnnotationAssertion( "RDO:9001499"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYP25"^^xsd:string) AnnotationAssertion( "myopia-25"^^xsd:string) AnnotationAssertion( "DOID:9000065"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 25, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Jaw Abnormalities) AnnotationAssertion(Annotation( "MESH:D007569"^^xsd:string) "Congenital absence of or defects in structures of the jaw."^^xsd:string) AnnotationAssertion( "MESH:D007569"^^xsd:string) AnnotationAssertion( "Jaw Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000066"^^xsd:string) AnnotationAssertion(rdfs:label "Jaw Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Foot Deformities) AnnotationAssertion(Annotation( "MESH:D005532"^^xsd:string) "Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth."^^xsd:string) AnnotationAssertion( "MESH:D005532"^^xsd:string) AnnotationAssertion( "congenital foot deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000067"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Foot Deformities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy) AnnotationAssertion( "MIM:300232"^^xsd:string) AnnotationAssertion( "MESH:C567065"^^xsd:string) AnnotationAssertion( "LKMCD"^^xsd:string) AnnotationAssertion( "SEMDHL"^^xsd:string) AnnotationAssertion( "X-linked SEMD with mental deterioration"^^xsd:string) AnnotationAssertion( "X-linked spondyloepimetaphyseal dysplasia with mental deterioration"^^xsd:string) AnnotationAssertion( "leukoencephalopathy with metaphyseal chondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000068"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostatic Stromal Proliferation of Uncertain Malignant Potential) AnnotationAssertion( "MESH:C537245"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000069"^^xsd:string) AnnotationAssertion(rdfs:label "Prostatic Stromal Proliferation of Uncertain Malignant Potential"^^xsd:string) SubClassOf( ) # Class: (Progressive Renal Failure with Hypertension) AnnotationAssertion( "MIM:161900"^^xsd:string) AnnotationAssertion( "RDO:0012415"^^xsd:string) AnnotationAssertion( "MESH:C562889"^^xsd:string) AnnotationAssertion( "AORF"^^xsd:string) AnnotationAssertion( "Nephritis, Familial, without Deafness or Ocular Defect"^^xsd:string) AnnotationAssertion( "Nephropathy, Familial"^^xsd:string) AnnotationAssertion( "RFH1"^^xsd:string) AnnotationAssertion( "Renal Failure, Adult-Onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000070"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Renal Failure with Hypertension"^^xsd:string) SubClassOf( ) # Class: (Signs and Symptoms) AnnotationAssertion(Annotation( "MESH:D012816"^^xsd:string) "Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient."^^xsd:string) AnnotationAssertion( "EFO:0003765"^^xsd:string) AnnotationAssertion( "MESH:D012816"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000071"^^xsd:string) AnnotationAssertion(rdfs:label "Signs and Symptoms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Metaphyseal Chondrodysplasia) AnnotationAssertion( "2018-02-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000073"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia"^^xsd:string) SubClassOf( ) # Class: (Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly) AnnotationAssertion( "MIM:602556"^^xsd:string) AnnotationAssertion( "MESH:C566524"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000074"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Lipomatosis Duodenal Stenosis) AnnotationAssertion( "MESH:C535839"^^xsd:string) AnnotationAssertion( "RDO:0001169"^^xsd:string) AnnotationAssertion( "Pancreatic lipomatosis and duodenal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000075"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Lipomatosis Duodenal Stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Closed Fractures) AnnotationAssertion(Annotation( "MESH:D005596"^^xsd:string) "Fractures in which the break in bone is not accompanied by an external wound."^^xsd:string) AnnotationAssertion( "MESH:D005596"^^xsd:string) AnnotationAssertion( "Closed Fracture"^^xsd:string) AnnotationAssertion( "Occult Fracture"^^xsd:string) AnnotationAssertion( "Occult Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000076"^^xsd:string) AnnotationAssertion(rdfs:label "Closed Fractures"^^xsd:string) SubClassOf( ) # Class: (GOMBO Syndrome) AnnotationAssertion( "MIM:233270"^^xsd:string) AnnotationAssertion( "MESH:C537284"^^xsd:string) AnnotationAssertion( "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000077"^^xsd:string) AnnotationAssertion(rdfs:label "GOMBO Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Black Hairy Tongue) AnnotationAssertion( "MESH:C538420"^^xsd:string) AnnotationAssertion( "Black tongue"^^xsd:string) AnnotationAssertion( "Lingua Nigra"^^xsd:string) AnnotationAssertion( "Lingua Villosa Nigra"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000078"^^xsd:string) AnnotationAssertion(rdfs:label "Black Hairy Tongue"^^xsd:string) SubClassOf( ) # Class: (Ancylostoma Duodenale Infection) AnnotationAssertion( "MESH:C538433"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000079"^^xsd:string) AnnotationAssertion(rdfs:label "Ancylostoma Duodenale Infection"^^xsd:string) SubClassOf( ) # Class: (Choroid Plexus Neoplasms) AnnotationAssertion(Annotation( "MESH:D016545"^^xsd:string) "Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8)"^^xsd:string) AnnotationAssertion( "MESH:D016545"^^xsd:string) AnnotationAssertion( "Choroid Plexus Tumor"^^xsd:string) AnnotationAssertion( "Choroid Plexus Tumors"^^xsd:string) AnnotationAssertion( "choroid plexus neoplasm"^^xsd:string) AnnotationAssertion( "primary choroid plexus neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000080"^^xsd:string) AnnotationAssertion(rdfs:label "Choroid Plexus Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Metastasis) AnnotationAssertion(Annotation( "MESH:D008207"^^xsd:string) "Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system."^^xsd:string) AnnotationAssertion( "EFO:0004906"^^xsd:string) AnnotationAssertion( "EFO:1001364"^^xsd:string) AnnotationAssertion( "MESH:D008207"^^xsd:string) AnnotationAssertion( "RDO:0006041"^^xsd:string) AnnotationAssertion( "Lymphatic Metastases"^^xsd:string) AnnotationAssertion( "lymph node metastatic carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000081"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Metastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Foot Deformities, Acquired) AnnotationAssertion(Annotation( "MESH:D005531"^^xsd:string) "Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth."^^xsd:string) AnnotationAssertion( "MESH:D005531"^^xsd:string) AnnotationAssertion( "RDO:0005519"^^xsd:string) AnnotationAssertion( "Acquired Foot Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000083"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Deformities, Acquired"^^xsd:string) SubClassOf( ) # Class: (Childhood-Onset Neurodegeneration with Cerebellar Atrophy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010256"^^xsd:string) AnnotationAssertion( "MIM:618276"^^xsd:string) AnnotationAssertion( "CONDCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000084"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-Onset Neurodegeneration with Cerebellar Atrophy"^^xsd:string) SubClassOf( ) # Class: (Book Syndrome) AnnotationAssertion( "MIM:112300"^^xsd:string) AnnotationAssertion( "MESH:C562993"^^xsd:string) AnnotationAssertion( "PHC Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000085"^^xsd:string) AnnotationAssertion(rdfs:label "Book Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhiny) AnnotationAssertion( "MIM:180360"^^xsd:string) AnnotationAssertion( "MESH:C566708"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000086"^^xsd:string) AnnotationAssertion(rdfs:label "Rhiny"^^xsd:string) SubClassOf( ) # Class: (Catastrophic Illness) AnnotationAssertion(Annotation( "MESH:D002388"^^xsd:string) "An acute or prolonged illness usually considered to be life-threatening or with the threat of serious residual disability. Treatment may be radical and is frequently costly."^^xsd:string) AnnotationAssertion( "MESH:D002388"^^xsd:string) AnnotationAssertion( "Catastrophic Illnesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000087"^^xsd:string) AnnotationAssertion(rdfs:label "Catastrophic Illness"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 66) AnnotationAssertion(Annotation( "MIM:619799"^^xsd:string) "Characterized by male infertility due to all sperm being round-headed (globozoospermia) and lacking the acrosome. Caused by homozygous mutation in the ZPBP gene on chromosome 7p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-24T11:28:42Z"^^xsd:string) AnnotationAssertion( "MIM:619799"^^xsd:string) AnnotationAssertion( "SPGF66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000088"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 66"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 3, Trisomy 3q) AnnotationAssertion( "MESH:C536813"^^xsd:string) AnnotationAssertion( "Duplication 3q"^^xsd:string) AnnotationAssertion( "Trisomy 3q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000090"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Trisomy 3q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male) AnnotationAssertion( "MIM:300233"^^xsd:string) AnnotationAssertion( "MESH:C564557"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000092"^^xsd:string) AnnotationAssertion(rdfs:label "Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male"^^xsd:string) SubClassOf( ) # Class: (Arakawa Syndrome 2) AnnotationAssertion( "MESH:C537426"^^xsd:string) AnnotationAssertion( "Arakawa's syndrome 2"^^xsd:string) AnnotationAssertion( "Arakawa's syndrome II"^^xsd:string) AnnotationAssertion( "Methionine synthase deficiency"^^xsd:string) AnnotationAssertion( "N5-methylhomocysteine transferase deficiency"^^xsd:string) AnnotationAssertion( "Tetrahydrofolate-methyltransferase deficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000093"^^xsd:string) AnnotationAssertion(rdfs:label "Arakawa Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Pterygium Of Conjunctiva And Cornea) AnnotationAssertion( "MIM:178000"^^xsd:string) AnnotationAssertion( "MESH:C566740"^^xsd:string) AnnotationAssertion( "RDO:0015009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000094"^^xsd:string) AnnotationAssertion(rdfs:label "Pterygium Of Conjunctiva And Cornea"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lung Agenesis) AnnotationAssertion( "MIM:265430"^^xsd:string) AnnotationAssertion( "MESH:C562992"^^xsd:string) AnnotationAssertion( "Pulmonary agenesis"^^xsd:string) AnnotationAssertion( "Unilateral lobar pulmonary agenesis"^^xsd:string) AnnotationAssertion( "congenital lung agenesis"^^xsd:string) AnnotationAssertion( "primary pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "unilateral lung agenesis"^^xsd:string) AnnotationAssertion( "experimental pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000096"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 10) AnnotationAssertion( "MIM:612267"^^xsd:string) AnnotationAssertion( "MESH:C567376"^^xsd:string) AnnotationAssertion( "SHEP10"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 10, Blond-Brown Hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000097"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mucus Inspissation of Respiratory Tract) AnnotationAssertion( "MIM:253240"^^xsd:string) AnnotationAssertion( "MESH:C565366"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000098"^^xsd:string) AnnotationAssertion(rdfs:label "Mucus Inspissation of Respiratory Tract"^^xsd:string) SubClassOf( ) # Class: (Experimental Colitis) AnnotationAssertion(Annotation( "PMID:20877947"^^xsd:string) Annotation( "PMID:30878575"^^xsd:string) Annotation( "PMID:32036253"^^xsd:string) "Colitis induced experimentally in laboratory animals by administration of various agents such as dextran sulfate sodium (DSS), 2,4,6-trinitrobenzene sulfonic acid (TNBS), or acetic acid. Experimental colitis can also be induced by a procedure like colon diversion or radiation treatment."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000099"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Colitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA) AnnotationAssertion(Annotation( "MIM:619651"^^xsd:string) "This disease is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-10T18:08:28Z"^^xsd:string) AnnotationAssertion( "MIM:619651"^^xsd:string) AnnotationAssertion( "NEDHYD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000100"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rectovaginal Fistula) AnnotationAssertion(Annotation( "MESH:D012006"^^xsd:string) "An abnormal anatomical passage between the RECTUM and the VAGINA."^^xsd:string) AnnotationAssertion( "MESH:D012006"^^xsd:string) AnnotationAssertion( "Rectovaginal Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000101"^^xsd:string) AnnotationAssertion(rdfs:label "Rectovaginal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aprosencephaly and Cerebellar Dysgenesis) AnnotationAssertion( "MIM:601374"^^xsd:string) AnnotationAssertion( "MESH:C563331"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000103"^^xsd:string) AnnotationAssertion(rdfs:label "Aprosencephaly and Cerebellar Dysgenesis"^^xsd:string) SubClassOf( ) # Class: (Glomerular Diseases) AnnotationAssertion( "A set of diseases affecting the glomeruli of the nephron, that may or may not be inflammatory."^^xsd:string) AnnotationAssertion( "EFO:1002049"^^xsd:string) AnnotationAssertion( "RDO:9000066"^^xsd:string) AnnotationAssertion( "Glomerulopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000104"^^xsd:string) AnnotationAssertion(rdfs:label "Glomerular Diseases"^^xsd:string) SubClassOf( ) # Class: (Glaucoma with Elevated Episcleral Venous Pressure) AnnotationAssertion( "MIM:137700"^^xsd:string) AnnotationAssertion( "MESH:C564235"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000105"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma with Elevated Episcleral Venous Pressure"^^xsd:string) SubClassOf( ) # Class: (Oculomotor Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061220"^^xsd:string) "Traumatic injuries to the OCULOMOTOR NERVE. This may result in various eye movement dysfunction."^^xsd:string) AnnotationAssertion( "MESH:D061220"^^xsd:string) AnnotationAssertion( "Cranial Nerve III Injury"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Contusion"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Contusions"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Injury"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Transection"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Transections"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Trauma"^^xsd:string) AnnotationAssertion( "Oculomotor Nerve Traumas"^^xsd:string) AnnotationAssertion( "Third Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Third Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Third Nerve Trauma"^^xsd:string) AnnotationAssertion( "Third-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Oculomotor Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Oculomotor Neuropathy"^^xsd:string) AnnotationAssertion( "Traumatic Third Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Third-Nerve Palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000106"^^xsd:string) AnnotationAssertion(rdfs:label "Oculomotor Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hall Riggs Mental Retardation Syndrome) AnnotationAssertion( "MIM:234250"^^xsd:string) AnnotationAssertion( "MESH:C535623"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000107"^^xsd:string) AnnotationAssertion(rdfs:label "Hall Riggs Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dermochondrocorneal Dystrophy of François) AnnotationAssertion( "MIM:221800"^^xsd:string) AnnotationAssertion( "MESH:C535375"^^xsd:string) AnnotationAssertion( "Dermochondrocorneal dystrophy"^^xsd:string) AnnotationAssertion( "Francois syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000108"^^xsd:string) AnnotationAssertion(rdfs:label "Dermochondrocorneal Dystrophy of François"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Haemophilus Infections) AnnotationAssertion(Annotation( "MESH:D006192"^^xsd:string) "Infections with bacteria of the genus HAEMOPHILUS."^^xsd:string) AnnotationAssertion( "EFO:1001127"^^xsd:string) AnnotationAssertion( "MESH:D006192"^^xsd:string) AnnotationAssertion( "RDO:0001648"^^xsd:string) AnnotationAssertion( "Haemophilus Infection"^^xsd:string) AnnotationAssertion( "Hemophilus Infection"^^xsd:string) AnnotationAssertion( "Hemophilus Infections"^^xsd:string) AnnotationAssertion( "primary Haemophilus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000109"^^xsd:string) AnnotationAssertion(rdfs:label "Haemophilus Infections"^^xsd:string) SubClassOf( ) # Class: (Congenital Chylous Ascites) AnnotationAssertion( "MIM:208300"^^xsd:string) AnnotationAssertion( "MESH:C531654"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000110"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Chylous Ascites"^^xsd:string) SubClassOf( ) # Class: (Radiation Injuries) AnnotationAssertion(Annotation( "MESH:D011832"^^xsd:string) "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES."^^xsd:string) AnnotationAssertion( "EFO:0006912"^^xsd:string) AnnotationAssertion( "EFO:0009566"^^xsd:string) AnnotationAssertion( "MESH:D011832"^^xsd:string) AnnotationAssertion( "Radiation Injury"^^xsd:string) AnnotationAssertion( "Radiation Sickness"^^xsd:string) AnnotationAssertion( "Radiation Sicknesses"^^xsd:string) AnnotationAssertion( "Radiation Syndrome"^^xsd:string) AnnotationAssertion( "Radiation Syndromes"^^xsd:string) AnnotationAssertion( "Radiation-induced nausea and vomiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000111"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Injuries"^^xsd:string) SubClassOf( ) # Class: (Alopecia Contractures Dwarfism Mental Retardation) AnnotationAssertion( "MIM:203550"^^xsd:string) AnnotationAssertion( "MESH:C537051"^^xsd:string) AnnotationAssertion( "ACD Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "Alopecia-contractures-dwarfism mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000112"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Contractures Dwarfism Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pneumococcal Meningitis) AnnotationAssertion(Annotation( "MESH:D008586"^^xsd:string) "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)"^^xsd:string) AnnotationAssertion( "EFO:1001114"^^xsd:string) AnnotationAssertion( "MESH:D008586"^^xsd:string) AnnotationAssertion( "Experimental Pneumococcal Meningitides"^^xsd:string) AnnotationAssertion( "Experimental Pneumococcal Meningitis"^^xsd:string) AnnotationAssertion( "Meningitis, Pneumococcal, Penicillin-Resistant"^^xsd:string) AnnotationAssertion( "Pneumococcal Meningitides"^^xsd:string) AnnotationAssertion( "Streptococcus pneumoniae Meningitides"^^xsd:string) AnnotationAssertion( "recurrent pneumococcal meningitis"^^xsd:string) AnnotationAssertion( "streptococcus pneumoniae meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000113"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumococcal Meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Anteversion) AnnotationAssertion(Annotation( "MESH:D060750"^^xsd:string) "Malalignment of a bone in which its head and neck is rotated excessively forward or inward."^^xsd:string) AnnotationAssertion( "EFO:1001274"^^xsd:string) AnnotationAssertion( "MESH:D060750"^^xsd:string) AnnotationAssertion( "Bone Antetorsion"^^xsd:string) AnnotationAssertion( "Bone Antetorsions"^^xsd:string) AnnotationAssertion( "Bone Anteversions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000114"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Anteversion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Posthemorrhagic Hydrocephalus) AnnotationAssertion( "Posthemorrhagic Hydrocephalus is an abnormal expansion of cavities (ventricles) within the brain that is caused by the accumulation of cerebrospinal fluid, secondary to hemorrhage into the ventricles or the subarachnoid space."^^xsd:string) AnnotationAssertion( "RDO:9000079"^^xsd:string) AnnotationAssertion( "PHH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000115"^^xsd:string) AnnotationAssertion(rdfs:label "Posthemorrhagic Hydrocephalus"^^xsd:string) SubClassOf( ) # Class: (Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss) AnnotationAssertion( "MIM:609466"^^xsd:string) AnnotationAssertion( "MESH:C536427"^^xsd:string) AnnotationAssertion( "Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000116"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Esophageal Neoplasms) AnnotationAssertion(Annotation( "MESH:D004938"^^xsd:string) "Tumors or cancer of the ESOPHAGUS."^^xsd:string) AnnotationAssertion( "MESH:D004938"^^xsd:string) AnnotationAssertion( "Esophageal Neoplasm"^^xsd:string) AnnotationAssertion( "Esophagus Neoplasm"^^xsd:string) AnnotationAssertion( "Esophagus Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000117"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paranasal Sinus Neoplasms) AnnotationAssertion(Annotation( "MESH:D010255"^^xsd:string) "Tumors or cancer of the PARANASAL SINUSES."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T07:38:16Z"^^xsd:string) AnnotationAssertion( "MESH:D010255"^^xsd:string) AnnotationAssertion( "NCI:C7488"^^xsd:string) AnnotationAssertion( "neoplasm of accessory sinus"^^xsd:string) AnnotationAssertion( "paranasal sinus neoplasms"^^xsd:string) AnnotationAssertion( "tumor of accessory sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000118"^^xsd:string) AnnotationAssertion(rdfs:label "Paranasal Sinus Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Left-Sided Gallbladder) AnnotationAssertion( "RDO:0002739"^^xsd:string) AnnotationAssertion( "MESH:C537001"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000119"^^xsd:string) AnnotationAssertion(rdfs:label "Left-Sided Gallbladder"^^xsd:string) SubClassOf( ) # Class: (Deafness Hyperuricemia Neurologic Ataxia) AnnotationAssertion( "MESH:C535995"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000120"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness Hyperuricemia Neurologic Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malocclusion) AnnotationAssertion(Annotation( "MESH:D008310"^^xsd:string) "Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)"^^xsd:string) AnnotationAssertion( "MIM:154300"^^xsd:string) AnnotationAssertion( "MESH:D008310"^^xsd:string) AnnotationAssertion( "Angle Classification"^^xsd:string) AnnotationAssertion( "Angle's Classification"^^xsd:string) AnnotationAssertion( "Angles Classification"^^xsd:string) AnnotationAssertion( "Cross Bite"^^xsd:string) AnnotationAssertion( "Cross Bites"^^xsd:string) AnnotationAssertion( "Crossbite"^^xsd:string) AnnotationAssertion( "Crossbites"^^xsd:string) AnnotationAssertion( "Crowdings, Tooth"^^xsd:string) AnnotationAssertion( "Malocclusions"^^xsd:string) AnnotationAssertion( "Tooth Crowding"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000121"^^xsd:string) AnnotationAssertion(rdfs:label "Malocclusion"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Surfactant Metabolism Dysfunction 3) AnnotationAssertion( "MIM:610921"^^xsd:string) AnnotationAssertion( "MESH:C567046"^^xsd:string) AnnotationAssertion( "NCI:C99070"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease Due To ABCA3 Deficiency"^^xsd:string) AnnotationAssertion( "PRIMARY INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD DUE TO PULMONARY SURFACTANT PROTEIN ANOMALIES"^^xsd:string) AnnotationAssertion( "SMDP3"^^xsd:string) AnnotationAssertion( "congenital pulmonary alveolar proteinosis 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000122"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Surfactant Metabolism Dysfunction 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deglutition Disorders) AnnotationAssertion(Annotation( "MESH:D003680"^^xsd:string) "Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS."^^xsd:string) AnnotationAssertion( "MESH:D003680"^^xsd:string) AnnotationAssertion( "Deglutition Disorder"^^xsd:string) AnnotationAssertion( "Dysphagia"^^xsd:string) AnnotationAssertion( "Esophageal Dysphagia"^^xsd:string) AnnotationAssertion( "Oropharyngeal Dysphagia"^^xsd:string) AnnotationAssertion( "Swallowing Disorder"^^xsd:string) AnnotationAssertion( "Swallowing Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000123"^^xsd:string) AnnotationAssertion(rdfs:label "Deglutition Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Perrault Syndrome 5) AnnotationAssertion( "MIM:616138"^^xsd:string) AnnotationAssertion( "PRLTS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000124"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Orofacial Granulomatosis) AnnotationAssertion(Annotation( "MESH:D051261"^^xsd:string) "A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease."^^xsd:string) AnnotationAssertion( "EFO:1001820"^^xsd:string) AnnotationAssertion( "MESH:D051261"^^xsd:string) AnnotationAssertion( "Orofacial Granulomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000125"^^xsd:string) AnnotationAssertion(rdfs:label "Orofacial Granulomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Knobloch Syndrome Type II) AnnotationAssertion( "MIM:618458"^^xsd:string) AnnotationAssertion( "MESH:C548030"^^xsd:string) AnnotationAssertion( "KNO2"^^xsd:string) AnnotationAssertion( "Knobloch Syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000127"^^xsd:string) AnnotationAssertion(rdfs:label "Knobloch Syndrome Type II"^^xsd:string) SubClassOf( ) # Class: (Galactorrhea-Hyperprolactinemia) AnnotationAssertion( "GARD:8400"^^xsd:string) AnnotationAssertion( "MESH:C535402"^^xsd:string) AnnotationAssertion( "Galactorrhoea-Hyperprolactinaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000128"^^xsd:string) AnnotationAssertion(rdfs:label "Galactorrhea-Hyperprolactinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pelvic Infection) AnnotationAssertion(Annotation( "MESH:D034161"^^xsd:string) "Infection involving the tissues or organs in the PELVIS."^^xsd:string) AnnotationAssertion( "MESH:D034161"^^xsd:string) AnnotationAssertion( "Pelvic Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000129"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Emerging Communicable Diseases) AnnotationAssertion(Annotation( "MESH:D021821"^^xsd:string) "Infectious diseases that are novel in their outbreak ranges (geographic and host) or transmission mode."^^xsd:string) AnnotationAssertion( "MESH:D021821"^^xsd:string) AnnotationAssertion( "Emerging Communicable Disease"^^xsd:string) AnnotationAssertion( "Emerging Infectious Disease"^^xsd:string) AnnotationAssertion( "Emerging Infectious Diseases"^^xsd:string) AnnotationAssertion( "Re-Emerging Communicable Disease"^^xsd:string) AnnotationAssertion( "Re-Emerging Communicable Diseases"^^xsd:string) AnnotationAssertion( "Re-Emerging Infectious Disease"^^xsd:string) AnnotationAssertion( "Re-Emerging Infectious Diseases"^^xsd:string) AnnotationAssertion( "Reemerging Communicable Disease"^^xsd:string) AnnotationAssertion( "Reemerging Communicable Diseases"^^xsd:string) AnnotationAssertion( "Reemerging Infectious Disease"^^xsd:string) AnnotationAssertion( "Reemerging Infectious Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000131"^^xsd:string) AnnotationAssertion(rdfs:label "Emerging Communicable Diseases"^^xsd:string) SubClassOf( ) # Class: (Ayazi Syndrome) AnnotationAssertion( "MESH:C537793"^^xsd:string) AnnotationAssertion( "choroideremia deafness obesity"^^xsd:string) AnnotationAssertion( "choroideremia with deafness and obesity"^^xsd:string) AnnotationAssertion( "choroideremia, obesity, and congenital deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000132"^^xsd:string) AnnotationAssertion(rdfs:label "Ayazi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sneezing) AnnotationAssertion(Annotation( "MESH:D012912"^^xsd:string) "The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT."^^xsd:string) AnnotationAssertion( "EFO:0004290"^^xsd:string) AnnotationAssertion( "MESH:D012912"^^xsd:string) AnnotationAssertion( "Sneezings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000133"^^xsd:string) AnnotationAssertion(rdfs:label "Sneezing"^^xsd:string) SubClassOf( ) # Class: (Chromosome 10, Monosomy 10q) AnnotationAssertion( "MESH:C538289"^^xsd:string) AnnotationAssertion( "RDO:0004251"^^xsd:string) AnnotationAssertion( "Deletion 10q"^^xsd:string) AnnotationAssertion( "Monosomy 10q"^^xsd:string) AnnotationAssertion( "Terminal deletion of chromosome 10q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000134"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10, Monosomy 10q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Osteoma of Middle Ear) AnnotationAssertion( "MIM:259650"^^xsd:string) AnnotationAssertion( "MESH:C564917"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000136"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoma of Middle Ear"^^xsd:string) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs' Endothelial, 1) AnnotationAssertion( "MIM:136800"^^xsd:string) AnnotationAssertion( "MESH:C535478"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy, Fuchs Endothelial 1"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy, Fuchs Endothelial, Early-Onset"^^xsd:string) AnnotationAssertion( "Dystrophia epithelialis corneae"^^xsd:string) AnnotationAssertion( "FECD1"^^xsd:string) AnnotationAssertion( "Fuchs' dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000137"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs' Endothelial, 1"^^xsd:string) SubClassOf( ) # Class: (Whyte Murphy Syndrome) AnnotationAssertion( "MESH:C536054"^^xsd:string) AnnotationAssertion( "Osteopathia striata associated with familial dermopathy and white forelock"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000138"^^xsd:string) AnnotationAssertion(rdfs:label "Whyte Murphy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Superior Vena Cava Syndrome) AnnotationAssertion(Annotation( "MESH:D013479"^^xsd:string) "A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms."^^xsd:string) AnnotationAssertion( "EFO:1001855"^^xsd:string) AnnotationAssertion( "MESH:D013479"^^xsd:string) AnnotationAssertion( "superior vena cava obstruction"^^xsd:string) AnnotationAssertion( "superior vena cava thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000139"^^xsd:string) AnnotationAssertion(rdfs:label "Superior Vena Cava Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Supraglottitis) AnnotationAssertion(Annotation( "MESH:D059525"^^xsd:string) "Inflammation of the EPIGLOTTIS and supraglottic structures including the PHARYNX; UVULA; base of tongue; and aryepiglottic folds. It is usually caused by HAEMOPHILUS INFLUENZAE in children but often by different organisms in adults."^^xsd:string) AnnotationAssertion( "MESH:D059525"^^xsd:string) AnnotationAssertion( "Supraglottitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000140"^^xsd:string) AnnotationAssertion(rdfs:label "Supraglottitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 58) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-11T11:54:35Z"^^xsd:string) AnnotationAssertion( "MIM:618106"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Mental Retardation 58"^^xsd:string) AnnotationAssertion( "MRD58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000141"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 58"^^xsd:string) SubClassOf( ) # Class: (Dental Calculus) AnnotationAssertion(Annotation( "MESH:D003728"^^xsd:string) "Abnormal concretion or calcified deposit that forms around the teeth or dental prostheses."^^xsd:string) AnnotationAssertion( "MESH:D003728"^^xsd:string) AnnotationAssertion( "Tartar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000142"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Calculus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deafness, Progressive High-Tone Neural) AnnotationAssertion( "MESH:C562423"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000143"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Progressive High-Tone Neural"^^xsd:string) SubClassOf( ) # Class: (Chronic Disease) AnnotationAssertion(Annotation( "MESH:D002908"^^xsd:string) "Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)"^^xsd:string) AnnotationAssertion( "EFO:0009714"^^xsd:string) AnnotationAssertion( "MESH:D002908"^^xsd:string) AnnotationAssertion( "Chronic Diseases"^^xsd:string) AnnotationAssertion( "Chronic Illness"^^xsd:string) AnnotationAssertion( "Chronic Illnesses"^^xsd:string) AnnotationAssertion( "Chronically Ill"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000144"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Disease"^^xsd:string) SubClassOf( ) # Class: (IGF1R-RELATED DISORDER) AnnotationAssertion( "MIM:270450"^^xsd:string) AnnotationAssertion( "RDO:0013649"^^xsd:string) AnnotationAssertion( "MESH:C564816"^^xsd:string) AnnotationAssertion( "IGF-I Resistance"^^xsd:string) AnnotationAssertion( "IGF1R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "INSULIN-LIKE GROWTH FACTOR I RESISTANCE"^^xsd:string) AnnotationAssertion( "Somatomedin C, Resistance To"^^xsd:string) AnnotationAssertion( "Somatomedin, End-Organ Insensitivity To"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN"^^xsd:string) AnnotationAssertion( "INSULIN-LIKE GROWTH FACTOR 1 RESISTANCE TO"^^xsd:string) AnnotationAssertion( "Insulin-Like Growth Factor I, Resistance To"^^xsd:string) AnnotationAssertion( "DOID:9000145"^^xsd:string) AnnotationAssertion(rdfs:label "IGF1R-RELATED DISORDER"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Plaque, Atherosclerotic) AnnotationAssertion(Annotation( "MESH:D058226"^^xsd:string) "Lesions formed within the walls of ARTERIES."^^xsd:string) AnnotationAssertion( "MESH:D058226"^^xsd:string) AnnotationAssertion( "RDO:0007814"^^xsd:string) AnnotationAssertion( "Arterial Fatty Streak"^^xsd:string) AnnotationAssertion( "Arterial Fatty Streaks"^^xsd:string) AnnotationAssertion( "Atheroma"^^xsd:string) AnnotationAssertion( "Atheromas"^^xsd:string) AnnotationAssertion( "Atheromatous Plaques"^^xsd:string) AnnotationAssertion( "Atherosclerotic Plaques"^^xsd:string) AnnotationAssertion( "Fibroatheroma"^^xsd:string) AnnotationAssertion( "Fibroatheromas"^^xsd:string) AnnotationAssertion( "Fibroatheromatous Plaque"^^xsd:string) AnnotationAssertion( "Fibroatheromatous Plaques"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000146"^^xsd:string) AnnotationAssertion(rdfs:label "Plaque, Atherosclerotic"^^xsd:string) SubClassOf( ) # Class: (Acute Febrile Encephalopathy) AnnotationAssertion(Annotation( "MESH:D000071072"^^xsd:string) "Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma)."^^xsd:string) AnnotationAssertion( "MESH:D000071072"^^xsd:string) AnnotationAssertion( "RDO:0016074"^^xsd:string) AnnotationAssertion( "Acute Encephalitis Syndrome"^^xsd:string) AnnotationAssertion( "Acute Encephalitis Syndromes"^^xsd:string) AnnotationAssertion( "Acute Febrile Encephalopathies"^^xsd:string) AnnotationAssertion( "Febrile Encephalopathies"^^xsd:string) AnnotationAssertion( "Febrile Encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000147"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Febrile Encephalopathy"^^xsd:string) SubClassOf( ) # Class: (Familial Hypersecretion of Adrenal Androgens) AnnotationAssertion( "MIM:145295"^^xsd:string) AnnotationAssertion( "MESH:C536845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000148"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypersecretion of Adrenal Androgens"^^xsd:string) SubClassOf( ) # Class: (Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:620009"^^xsd:string) "A disease characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-22T09:36:45Z"^^xsd:string) AnnotationAssertion( "MIM:620009"^^xsd:string) AnnotationAssertion( "KDIDAR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000149"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glycogen Storage Disease IIIA) AnnotationAssertion( "OMIA:001577"^^xsd:string) AnnotationAssertion( "MESH:C566889"^^xsd:string) AnnotationAssertion( "GSD IIIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000150"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease IIIA"^^xsd:string) SubClassOf( ) # Class: (Parietal Foramina 3) AnnotationAssertion( "MIM:609566"^^xsd:string) AnnotationAssertion( "MESH:C563697"^^xsd:string) AnnotationAssertion( "PFM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000151"^^xsd:string) AnnotationAssertion(rdfs:label "Parietal Foramina 3"^^xsd:string) SubClassOf( ) # Class: (Braddock-Carey Syndrome 2) AnnotationAssertion(Annotation( "MIM:619981"^^xsd:string) "Characterized by congenital thrombocytopenia, microcephaly, and facial dysmorphisms including Pierre-Robin sequence. Caused by homozygous mutation in the KIF15 gene on chromosome 3p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-01T08:52:27Z"^^xsd:string) AnnotationAssertion( "MIM:619981"^^xsd:string) AnnotationAssertion( "BRDCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000152"^^xsd:string) AnnotationAssertion(rdfs:label "Braddock-Carey Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Non-AIDS-Related Kaposi Sarcoma) AnnotationAssertion( "MESH:C554497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000153"^^xsd:string) AnnotationAssertion(rdfs:label "Non-AIDS-Related Kaposi Sarcoma"^^xsd:string) SubClassOf( ) # Class: (Major Affective Disorder 6) AnnotationAssertion( "MIM:611536"^^xsd:string) AnnotationAssertion( "MESH:C567075"^^xsd:string) AnnotationAssertion( "MAFD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000154"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 6"^^xsd:string) SubClassOf( ) # Class: (Burning Mouth Syndrome- Type 3) AnnotationAssertion( "MESH:C537413"^^xsd:string) AnnotationAssertion( "RDO:0003254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000155"^^xsd:string) AnnotationAssertion(rdfs:label "Burning Mouth Syndrome- Type 3"^^xsd:string) SubClassOf( ) # Class: (Metaplasia) AnnotationAssertion(Annotation( "MESH:D008679"^^xsd:string) "A condition in which there is a change of one adult cell type to another similar adult cell type."^^xsd:string) AnnotationAssertion( "EFO:1000168"^^xsd:string) AnnotationAssertion( "MESH:D008679"^^xsd:string) AnnotationAssertion( "Cervical Metaplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000156"^^xsd:string) AnnotationAssertion(rdfs:label "Metaplasia"^^xsd:string) SubClassOf( ) # Class: (Striae Distensae, Familial) AnnotationAssertion( "MIM:185200"^^xsd:string) AnnotationAssertion( "MESH:C566104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000157"^^xsd:string) AnnotationAssertion(rdfs:label "Striae Distensae, Familial"^^xsd:string) SubClassOf( ) # Class: (Spinal Epidural Hematoma) AnnotationAssertion(Annotation( "MESH:D046748"^^xsd:string) "A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY."^^xsd:string) AnnotationAssertion( "MESH:D046748"^^xsd:string) AnnotationAssertion( "Spinal Epidural Hematomas"^^xsd:string) AnnotationAssertion( "Spinal Epidural Hemorrhage"^^xsd:string) AnnotationAssertion( "Spinal Epidural Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000158"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Epidural Hematoma"^^xsd:string) SubClassOf( ) # Class: (Thumb Deformity and Alopecia) AnnotationAssertion( "MIM:188150"^^xsd:string) AnnotationAssertion( "MESH:C566054"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000159"^^xsd:string) AnnotationAssertion(rdfs:label "Thumb Deformity and Alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Recessive Nonsyndromic Deafness 120) AnnotationAssertion(Annotation( "MIM:620238"^^xsd:string) "A disease characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss. Caused by homozygous mutation in the MINAR2 gene on chromosome 5q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-06T13:38:25Z"^^xsd:string) AnnotationAssertion( "MIM:620238"^^xsd:string) AnnotationAssertion( "DFNB120"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 120"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000161"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 120"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment) AnnotationAssertion( "MIM:242530"^^xsd:string) AnnotationAssertion( "MESH:C536274"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000163"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axial Osteosclerosis) AnnotationAssertion( "MIM:166450"^^xsd:string) AnnotationAssertion( "MESH:C537792"^^xsd:string) AnnotationAssertion( "osteomesopyknosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000164"^^xsd:string) AnnotationAssertion(rdfs:label "Axial Osteosclerosis"^^xsd:string) SubClassOf( ) # Class: (Neuromuscular Manifestations) AnnotationAssertion(Annotation( "MESH:D020879"^^xsd:string) "Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves."^^xsd:string) AnnotationAssertion( "MESH:D020879"^^xsd:string) AnnotationAssertion( "Muscle Disease Manifestation"^^xsd:string) AnnotationAssertion( "Muscle Disease Manifestations"^^xsd:string) AnnotationAssertion( "Neuromuscular Manifestation"^^xsd:string) AnnotationAssertion( "Neuromuscular Signs and Symptoms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000165"^^xsd:string) AnnotationAssertion(rdfs:label "Neuromuscular Manifestations"^^xsd:string) SubClassOf( ) # Class: (Intrinsic Sleep Disorders) AnnotationAssertion(Annotation( "MESH:D020919"^^xsd:string) "Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)"^^xsd:string) AnnotationAssertion( "MESH:D020919"^^xsd:string) AnnotationAssertion( "Intrinsic Sleep Disorder"^^xsd:string) AnnotationAssertion( "Post-Traumatic Hypersomnia"^^xsd:string) AnnotationAssertion( "Posttraumatic Hypersomnia"^^xsd:string) AnnotationAssertion( "Posttraumatic Hypersomnias"^^xsd:string) AnnotationAssertion( "Sleep State Misperception"^^xsd:string) AnnotationAssertion( "post-traumatic hypersomnias"^^xsd:string) AnnotationAssertion( "sleep state misperceptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000166"^^xsd:string) AnnotationAssertion(rdfs:label "Intrinsic Sleep Disorders"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Systemic Inflammatory Response Syndrome) AnnotationAssertion(Annotation( "MESH:D018746"^^xsd:string) "A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA <36 degrees C; (2) TACHYCARDIA >90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS."^^xsd:string) AnnotationAssertion( "EFO:1001478"^^xsd:string) AnnotationAssertion( "MESH:D018746"^^xsd:string) AnnotationAssertion( "Sepsis Syndrome"^^xsd:string) AnnotationAssertion( "Sepsis Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000169"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Inflammatory Response Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ragweed Sensitivity) AnnotationAssertion( "MIM:179450"^^xsd:string) AnnotationAssertion( "MESH:C566725"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000170"^^xsd:string) AnnotationAssertion(rdfs:label "Ragweed Sensitivity"^^xsd:string) SubClassOf( ) # Class: (Yersinia enterocolitica infections) AnnotationAssertion(Annotation( "EFO:0009424"^^xsd:string) "These are infections with bacteria of the species Yersinia enterocolitica."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-06T10:15:30Z"^^xsd:string) AnnotationAssertion( "EFO:0009424"^^xsd:string) AnnotationAssertion( "Yersinia enterocolitica infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000171"^^xsd:string) AnnotationAssertion(rdfs:label "Yersinia enterocolitica infections"^^xsd:string) SubClassOf( ) # Class: (17,20-Lyase Deficiency, Isolated) AnnotationAssertion( "This disease involves decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity."^^xsd:string) AnnotationAssertion( "EFO:0009067"^^xsd:string) AnnotationAssertion( "MESH:C567076"^^xsd:string) AnnotationAssertion( "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete"^^xsd:string) AnnotationAssertion( "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial"^^xsd:string) AnnotationAssertion( "combined partial 17-alpha-hydroxylase/17,20-lyase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000172"^^xsd:string) AnnotationAssertion(rdfs:label "17,20-Lyase Deficiency, Isolated"^^xsd:string) SubClassOf( ) # Class: (Eye Burns) AnnotationAssertion(Annotation( "MESH:D005126"^^xsd:string) "Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation."^^xsd:string) AnnotationAssertion( "EFO:1001788"^^xsd:string) AnnotationAssertion( "MESH:D005126"^^xsd:string) AnnotationAssertion( "RDO:0005554"^^xsd:string) AnnotationAssertion( "Eye Burn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000173"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Burns"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Becker Nevus Syndrome) AnnotationAssertion( "MIM:604919"^^xsd:string) AnnotationAssertion( "MESH:C565735"^^xsd:string) AnnotationAssertion( "BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BECKER NEVUS, ISOLATED"^^xsd:string) AnnotationAssertion( "BN"^^xsd:string) AnnotationAssertion( "DOID:9000174"^^xsd:string) AnnotationAssertion(rdfs:label "Becker Nevus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thoracomelic Dysplasia) AnnotationAssertion( "MIM:273740"^^xsd:string) AnnotationAssertion( "MESH:C564773"^^xsd:string) AnnotationAssertion( "thoraco-limb dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000175"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME) AnnotationAssertion(Annotation( "MIM:619719"^^xsd:string) "This disease is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-18T17:04:01Z"^^xsd:string) AnnotationAssertion( "MIM:619719"^^xsd:string) AnnotationAssertion( "IDMYS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000176"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chudley-Mccullough syndrome) AnnotationAssertion( "MIM:604213"^^xsd:string) AnnotationAssertion( "MESH:C535459"^^xsd:string) AnnotationAssertion( "RDO:0000582"^^xsd:string) AnnotationAssertion( "CMCS"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 82"^^xsd:string) AnnotationAssertion( "DFNB82"^^xsd:string) AnnotationAssertion( "Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction"^^xsd:string) AnnotationAssertion( "Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts"^^xsd:string) AnnotationAssertion( "GPSM2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000177"^^xsd:string) AnnotationAssertion(rdfs:label "Chudley-Mccullough syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cystic Medial Necrosis of Aorta) AnnotationAssertion( "MESH:C536230"^^xsd:string) AnnotationAssertion( "Erdheim Cystic medial necrosis of aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000178"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Medial Necrosis of Aorta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infantile Hypertrophic Pyloric Stenosis 5) AnnotationAssertion( "MIM:612525"^^xsd:string) AnnotationAssertion( "MESH:C567283"^^xsd:string) AnnotationAssertion( "IHPS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000179"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypertrophic Pyloric Stenosis 5"^^xsd:string) SubClassOf( ) # Class: (Compassion Fatigue) AnnotationAssertion(Annotation( "MESH:D000068376"^^xsd:string) "Stress response that occurs in individuals working in care giving professions."^^xsd:string) AnnotationAssertion( "MESH:D000068376"^^xsd:string) AnnotationAssertion( "Secondary Trauma"^^xsd:string) AnnotationAssertion( "Secondary Traumas"^^xsd:string) AnnotationAssertion( "Secondary Traumatic Stress"^^xsd:string) AnnotationAssertion( "Secondary Traumatization"^^xsd:string) AnnotationAssertion( "Secondary Traumatizations"^^xsd:string) AnnotationAssertion( "Stresses, Secondary Traumatic"^^xsd:string) AnnotationAssertion( "Vicarious Trauma"^^xsd:string) AnnotationAssertion( "Vicarious Traumas"^^xsd:string) AnnotationAssertion( "Vicarious Traumatization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000180"^^xsd:string) AnnotationAssertion(rdfs:label "Compassion Fatigue"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spermatogenic Failure 68) AnnotationAssertion(Annotation( "MIM:619805"^^xsd:string) "Characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome. Caused by homozygous mutation in the C2CD6 gene on chromosome 2q33."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-24T12:00:21Z"^^xsd:string) AnnotationAssertion( "MIM:619805"^^xsd:string) AnnotationAssertion( "SPGF68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000182"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 68"^^xsd:string) SubClassOf( ) # Class: (Familial Eosinophilia) AnnotationAssertion( "MIM:131400"^^xsd:string) AnnotationAssertion( "RDO:0012312"^^xsd:string) AnnotationAssertion( "MESH:C562722"^^xsd:string) AnnotationAssertion( "EOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000183"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Eosinophilia"^^xsd:string) SubClassOf( ) # Class: (Ventricular Fibrillation) AnnotationAssertion(Annotation( "MESH:D014693"^^xsd:string) "A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST."^^xsd:string) AnnotationAssertion( "MIM:613601"^^xsd:string) AnnotationAssertion( "EFO:0004287"^^xsd:string) AnnotationAssertion( "MESH:D014693"^^xsd:string) AnnotationAssertion( "Ventricular Fibrillations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Early repolarization associated with ventricular fibrillation"^^xsd:string) AnnotationAssertion( "DOID:9000184"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Fibrillation"^^xsd:string) SubClassOf( ) # Class: (Coumarin Sensitivity) AnnotationAssertion( "MESH:C567276"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000185"^^xsd:string) AnnotationAssertion(rdfs:label "Coumarin Sensitivity"^^xsd:string) SubClassOf( ) # Class: (Ossified Ear Cartilages) AnnotationAssertion( "MIM:165670"^^xsd:string) AnnotationAssertion( "MESH:C563488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000186"^^xsd:string) AnnotationAssertion(rdfs:label "Ossified Ear Cartilages"^^xsd:string) SubClassOf( ) # Class: (Spastic Ataxia 9, Autosomal Recessive) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:09:08Z"^^xsd:string) AnnotationAssertion( "MIM:618438"^^xsd:string) AnnotationAssertion( "SPAX9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000187"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Ataxia 9, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2) AnnotationAssertion( "A disease characterized by failure to thrive apparent in infancy despite adequate caloric intake. Caused by heterozygous mutation in the ATP5F1B gene on chromosome 12q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T11:54:04Z"^^xsd:string) AnnotationAssertion( "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING"^^xsd:string) AnnotationAssertion( "MIM:620085"^^xsd:string) AnnotationAssertion( "HUMOP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000188"^^xsd:string) AnnotationAssertion(rdfs:label "HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2"^^xsd:string) SubClassOf( ) # Class: (Fallopian Tube Neoplasms) AnnotationAssertion(Annotation( "MESH:D005185"^^xsd:string) "Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk."^^xsd:string) AnnotationAssertion( "RDO:0002829"^^xsd:string) AnnotationAssertion( "MESH:D005185"^^xsd:string) AnnotationAssertion( "Fallopian Tube Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000189"^^xsd:string) AnnotationAssertion(rdfs:label "Fallopian Tube Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypophosphatemic Bone Disease) AnnotationAssertion( "MIM:146350"^^xsd:string) AnnotationAssertion( "MESH:C564145"^^xsd:string) AnnotationAssertion( "RDO:0013199"^^xsd:string) AnnotationAssertion( "HBD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000190"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophosphatemic Bone Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudophakia) AnnotationAssertion(Annotation( "MESH:D019591"^^xsd:string) "Presence of an intraocular lens after cataract extraction."^^xsd:string) AnnotationAssertion( "MESH:D019591"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000191"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudophakia"^^xsd:string) SubClassOf( ) # Class: (infectious colitis) AnnotationAssertion(Annotation( "NCI:C78359"^^xsd:string) "This disease is a viral or bacterial infectious process affecting the large intestine."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-25T14:04:08Z"^^xsd:string) AnnotationAssertion( "EFO:1000035"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000192"^^xsd:string) AnnotationAssertion(rdfs:label "infectious colitis"^^xsd:string) SubClassOf( ) # Class: (Short Stature and Facioauriculothoracic Malformations) AnnotationAssertion( "MIM:609654"^^xsd:string) AnnotationAssertion( "MESH:C566457"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000193"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature and Facioauriculothoracic Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cold Hypersensitivity) AnnotationAssertion( "MESH:C569627"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000194"^^xsd:string) AnnotationAssertion(rdfs:label "Cold Hypersensitivity"^^xsd:string) SubClassOf( ) # Class: (Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism) AnnotationAssertion( "Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera. FDLAB is caused by homozygous mutation in the ASPH gene on chromosome 8q12. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:601552"^^xsd:string) AnnotationAssertion( "MESH:C563293"^^xsd:string) AnnotationAssertion( "FDLAB"^^xsd:string) AnnotationAssertion( "SHAWAF-TRABOULSI SYNDROME"^^xsd:string) AnnotationAssertion( "Traboulsi syndrome"^^xsd:string) AnnotationAssertion( "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000195"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fibular Aplasia Ectrodactyly) AnnotationAssertion( "MIM:113310"^^xsd:string) AnnotationAssertion( "MESH:C537930"^^xsd:string) AnnotationAssertion( "Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000196"^^xsd:string) AnnotationAssertion(rdfs:label "Fibular Aplasia Ectrodactyly"^^xsd:string) SubClassOf( ) # Class: (Edema) AnnotationAssertion(Annotation( "MESH:D004487"^^xsd:string) "Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE."^^xsd:string) AnnotationAssertion( "EFO:0009373"^^xsd:string) AnnotationAssertion( "MESH:D004487"^^xsd:string) AnnotationAssertion( "Anasarca"^^xsd:string) AnnotationAssertion( "Dropsy"^^xsd:string) AnnotationAssertion( "Hydrops"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000197"^^xsd:string) AnnotationAssertion(rdfs:label "Edema"^^xsd:string) SubClassOf( ) # Class: (Erythrokeratodermia Variabilis et Progressiva 7) AnnotationAssertion( "A palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions, caused by homozygous mutation in the PERP gene on chromosome 6q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-01T14:36:35Z"^^xsd:string) AnnotationAssertion( "MIM:619209"^^xsd:string) AnnotationAssertion( "EKVP7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000198"^^xsd:string) AnnotationAssertion(rdfs:label "Erythrokeratodermia Variabilis et Progressiva 7"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leber Hereditary Optic Neuropathy, Autosomal Recessive 2) AnnotationAssertion(Annotation( "MIM:620569"^^xsd:string) "A disease characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. Caused by compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-11-10T14:47:25Z"^^xsd:string) AnnotationAssertion( "MIM:620569"^^xsd:string) AnnotationAssertion( "LHONAR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000200"^^xsd:string) AnnotationAssertion(rdfs:label "Leber Hereditary Optic Neuropathy, Autosomal Recessive 2"^^xsd:string) SubClassOf( ) # Class: (Yim Ebbin Syndrome) AnnotationAssertion( "MIM:601357"^^xsd:string) AnnotationAssertion( "MESH:C536713"^^xsd:string) AnnotationAssertion( "ACLH"^^xsd:string) AnnotationAssertion( "Amelia, cleft lip, palate, hydrocephalus, iris coloboma"^^xsd:string) AnnotationAssertion( "Brachial amelia, forebrain defects and facial clefts"^^xsd:string) AnnotationAssertion( "brachial amelia, cleft lip, and holoprosencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000201"^^xsd:string) AnnotationAssertion(rdfs:label "Yim Ebbin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Wyburn Mason's Syndrome) AnnotationAssertion( "MESH:C536752"^^xsd:string) AnnotationAssertion( "RDO:0002431"^^xsd:string) AnnotationAssertion( "Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes"^^xsd:string) AnnotationAssertion( "Wyburn Mason syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000203"^^xsd:string) AnnotationAssertion(rdfs:label "Wyburn Mason's Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Platelet-Activating Factor Acetylhydrolase Deficiency) AnnotationAssertion( "MIM:614278"^^xsd:string) AnnotationAssertion( "MESH:C566640"^^xsd:string) AnnotationAssertion( "RDO:0014946"^^xsd:string) AnnotationAssertion( "PAFAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000204"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Activating Factor Acetylhydrolase Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Subcutaneous Emphysema) AnnotationAssertion(Annotation( "MESH:D013352"^^xsd:string) "Presence of air or gas in the subcutaneous tissues of the body."^^xsd:string) AnnotationAssertion( "MESH:D013352"^^xsd:string) AnnotationAssertion( "RDO:0006636"^^xsd:string) AnnotationAssertion( "Subcutaneous Emphysemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000206"^^xsd:string) AnnotationAssertion(rdfs:label "Subcutaneous Emphysema"^^xsd:string) SubClassOf( ) # Class: (Pelvic Floor Disorders) AnnotationAssertion(Annotation( "MESH:D059952"^^xsd:string) "Injury, weakening, or PROLAPSE of the pelvic muscles, surrounding connective tissues or ligaments (PELVIC FLOOR)."^^xsd:string) AnnotationAssertion( "MESH:D059952"^^xsd:string) AnnotationAssertion( "Pelvic Floor Disease"^^xsd:string) AnnotationAssertion( "Pelvic Floor Diseases"^^xsd:string) AnnotationAssertion( "Pelvic Floor Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000207"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Floor Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auriculocondylar Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C538270"^^xsd:string) AnnotationAssertion( "MIM:PS602483"^^xsd:string) AnnotationAssertion( "Question Mark Ears Syndrome"^^xsd:string) AnnotationAssertion( "Question mark ear"^^xsd:string) AnnotationAssertion( "Question-Mark Ear Syndrome"^^xsd:string) AnnotationAssertion( "auriculo-condylar syndrome"^^xsd:string) AnnotationAssertion( "ears prominent and constricted"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000208"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculocondylar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (frontal fibrosing alopecia) AnnotationAssertion(Annotation( "EFO:0009855"^^xsd:string) "This disease is a lichenoid and scarring inflammatory skin disorder associated with widespread cutaneous inflammation and irreversible hair loss, which occurs predominantly in women of post-menopausal age."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-08T14:02:17Z"^^xsd:string) AnnotationAssertion( "EFO:0009855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000209"^^xsd:string) AnnotationAssertion(rdfs:label "frontal fibrosing alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurofibromatosis Type 5) AnnotationAssertion( "MESH:C537390"^^xsd:string) AnnotationAssertion( "RDO:0003228"^^xsd:string) AnnotationAssertion( "Neurofibromatosis type V"^^xsd:string) AnnotationAssertion( "Segmental neurofibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000210"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofibromatosis Type 5"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE) AnnotationAssertion( "MIM:617268"^^xsd:string) AnnotationAssertion( "RDO:9001505"^^xsd:string) AnnotationAssertion( "HECW2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HECW2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NDHSAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000211"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Pyropoikilocytosis) AnnotationAssertion( "GARD:4619"^^xsd:string) AnnotationAssertion( "MESH:C563004"^^xsd:string) AnnotationAssertion( "MIM:266140"^^xsd:string) AnnotationAssertion( "MONDO:0009948"^^xsd:string) AnnotationAssertion( "ORDO:98867"^^xsd:string) AnnotationAssertion( "HPP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000212"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Pyropoikilocytosis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 15q14 Deletion Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-09T11:02:44Z"^^xsd:string) AnnotationAssertion( "MIM:616898"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000213"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15q14 Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: (Myopia 7) AnnotationAssertion( "MIM:609256"^^xsd:string) AnnotationAssertion( "MESH:C563761"^^xsd:string) AnnotationAssertion( "MYP7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000214"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 7"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 12p Deletion) AnnotationAssertion( "MESH:C538301"^^xsd:string) AnnotationAssertion( "RDO:0004263"^^xsd:string) AnnotationAssertion( "Deletion 12p"^^xsd:string) AnnotationAssertion( "Monosomy 12p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000216"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 12p Deletion"^^xsd:string) SubClassOf( ) # Class: (Stomach Neoplasms) AnnotationAssertion( "Tumors or cancer of the STOMACH."^^xsd:string) AnnotationAssertion( "EFO:0003897"^^xsd:string) AnnotationAssertion( "EFO:1000273"^^xsd:string) AnnotationAssertion( "MESH:D013274"^^xsd:string) AnnotationAssertion( "gastric neoplasm"^^xsd:string) AnnotationAssertion( "gastric neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of stomach"^^xsd:string) AnnotationAssertion( "stomach neoplasm"^^xsd:string) AnnotationAssertion( "Gastric Metaplasia"^^xsd:string) AnnotationAssertion( "HDGC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000217"^^xsd:string) AnnotationAssertion(rdfs:label "Stomach Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniosynostosis with Ectopia Lentis) AnnotationAssertion( "MIM:603595"^^xsd:string) AnnotationAssertion( "MESH:C566357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000218"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis with Ectopia Lentis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Carney Complex Variant) AnnotationAssertion( "MIM:608837"^^xsd:string) AnnotationAssertion( "RDO:0012999"^^xsd:string) AnnotationAssertion( "MYH8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000219"^^xsd:string) AnnotationAssertion(rdfs:label "Carney Complex Variant"^^xsd:string) SubClassOf( ) # Class: (Coxsackievirus Infections) AnnotationAssertion(Annotation( "MESH:D003384"^^xsd:string) "A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS."^^xsd:string) AnnotationAssertion( "MIM:120050"^^xsd:string) AnnotationAssertion( "EFO:0007226"^^xsd:string) AnnotationAssertion( "MESH:D003384"^^xsd:string) AnnotationAssertion( "Coxsackie Virus Infection"^^xsd:string) AnnotationAssertion( "Coxsackie Virus Infections"^^xsd:string) AnnotationAssertion( "Coxsackievirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CB3S"^^xsd:string) AnnotationAssertion( "CXB3S"^^xsd:string) AnnotationAssertion( "Coxsackievirus B3 Susceptibility"^^xsd:string) AnnotationAssertion( "DOID:9000220"^^xsd:string) AnnotationAssertion(rdfs:label "Coxsackievirus Infections"^^xsd:string) SubClassOf( ) # Class: (Epiblepharon of Upper Lid) AnnotationAssertion( "MIM:131450"^^xsd:string) AnnotationAssertion( "MIM:131460"^^xsd:string) AnnotationAssertion( "MESH:C565051"^^xsd:string) AnnotationAssertion( "Epiblepharon of Lower Lid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000221"^^xsd:string) AnnotationAssertion(rdfs:label "Epiblepharon of Upper Lid"^^xsd:string) SubClassOf( ) # Class: (Cerebellar Degeneration-Related Autoantigen 3) AnnotationAssertion( "MIM:602197"^^xsd:string) AnnotationAssertion( "RDO:0008857"^^xsd:string) AnnotationAssertion( "CDR3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000222"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Degeneration-Related Autoantigen 3"^^xsd:string) SubClassOf( ) # Class: (Beta-Ureidopropionase Deficiency) AnnotationAssertion( "MIM:613161"^^xsd:string) AnnotationAssertion( "MESH:C563210"^^xsd:string) AnnotationAssertion( "UPB1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000223"^^xsd:string) AnnotationAssertion(rdfs:label "Beta-Ureidopropionase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laboratory Infection) AnnotationAssertion(Annotation( "MESH:D007757"^^xsd:string) "Accidentally acquired infection in laboratory workers."^^xsd:string) AnnotationAssertion( "MESH:D007757"^^xsd:string) AnnotationAssertion( "Laboratory Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000224"^^xsd:string) AnnotationAssertion(rdfs:label "Laboratory Infection"^^xsd:string) SubClassOf( ) # Class: (Hypotrichosis and Recurrent Skin Vesicles) AnnotationAssertion( "MIM:613102"^^xsd:string) AnnotationAssertion( "MESH:C567751"^^xsd:string) AnnotationAssertion( "HYPTSV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000225"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotrichosis and Recurrent Skin Vesicles"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Periodontal Cyst) AnnotationAssertion(Annotation( "MESH:D010509"^^xsd:string) "An epithelium-lined sac containing fluid; usually found at the apex of a pulp-involved tooth. The lateral type occurs less frequently along the side of the root."^^xsd:string) AnnotationAssertion( "MESH:D010509"^^xsd:string) AnnotationAssertion( "Dental Root Cyst"^^xsd:string) AnnotationAssertion( "Dental Root Cysts"^^xsd:string) AnnotationAssertion( "Dentoalveolar Cyst"^^xsd:string) AnnotationAssertion( "Dentoalveolar Cysts"^^xsd:string) AnnotationAssertion( "Lateral Cyst"^^xsd:string) AnnotationAssertion( "Lateral Cysts"^^xsd:string) AnnotationAssertion( "Periodontal Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000226"^^xsd:string) AnnotationAssertion(rdfs:label "Periodontal Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypogonadism and Testicular Atrophy) AnnotationAssertion( "MESH:C567108"^^xsd:string) AnnotationAssertion( "TESTICULAR ATROPHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000227"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadism and Testicular Atrophy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leigh Syndrome due to Mitochondrial Complex V Deficiency) AnnotationAssertion( "MESH:C564964"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000229"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome due to Mitochondrial Complex V Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hyper-IgE Recurrent Infection Syndrome 5) AnnotationAssertion( "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6R gene on chromosome 1q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-22T09:23:14Z"^^xsd:string) AnnotationAssertion( "MIM:618944"^^xsd:string) AnnotationAssertion( "HIES5"^^xsd:string) AnnotationAssertion( "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections"^^xsd:string) AnnotationAssertion( "autosomal recessive hyper-IgE recurrent infection syndrome-5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000230"^^xsd:string) AnnotationAssertion(rdfs:label "Hyper-IgE Recurrent Infection Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (plaque psoriasis) AnnotationAssertion(Annotation( "EFO:1001494"^^xsd:string) "This is is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T15:54:10Z"^^xsd:string) AnnotationAssertion( "psoriasis vulgaris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000231"^^xsd:string) AnnotationAssertion(rdfs:label "plaque psoriasis"^^xsd:string) SubClassOf( ) # Class: (Conjugated Hyperbilirubinemia Type III) AnnotationAssertion( "MIM:237550"^^xsd:string) AnnotationAssertion( "MESH:C562885"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000232"^^xsd:string) AnnotationAssertion(rdfs:label "Conjugated Hyperbilirubinemia Type III"^^xsd:string) SubClassOf( ) # Class: (PARKINSONISM WITH POLYNEUROPATHY) AnnotationAssertion(Annotation( "MIM:619279"^^xsd:string) "This disease is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-14T11:08:58Z"^^xsd:string) AnnotationAssertion( "MIM:619279"^^xsd:string) AnnotationAssertion( "NCI:C201521"^^xsd:string) AnnotationAssertion( "PKNPY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000233"^^xsd:string) AnnotationAssertion(rdfs:label "PARKINSONISM WITH POLYNEUROPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 15) AnnotationAssertion( "MIM:615770"^^xsd:string) AnnotationAssertion( "ATFB15"^^xsd:string) AnnotationAssertion( "ATRIAL FIBRILLATION 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000234"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 15"^^xsd:string) SubClassOf( ) # Class: (Malignant Hemangiopericytoma) AnnotationAssertion( "MIM:234820"^^xsd:string) AnnotationAssertion( "MESH:C562740"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000235"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Hemangiopericytoma"^^xsd:string) SubClassOf( ) # Class: (Persistent Hyperplastic Primary Vitreous, Autosomal Dominant) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:611308"^^xsd:string) AnnotationAssertion( "PHPVAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000236"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Hyperplastic Primary Vitreous, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acute-On-Chronic Liver Failure) AnnotationAssertion(Annotation( "MESH:D065290"^^xsd:string) "Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult."^^xsd:string) AnnotationAssertion( "EFO:0007949"^^xsd:string) AnnotationAssertion( "MESH:D065290"^^xsd:string) AnnotationAssertion( "RDO:0015968"^^xsd:string) AnnotationAssertion( "Acute On Chronic Liver Failure (ACLF)"^^xsd:string) AnnotationAssertion( "Acute-On-Chronic Liver Failures"^^xsd:string) AnnotationAssertion( "Acute-On-Chronic Liver Failures (ACLF)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000238"^^xsd:string) AnnotationAssertion(rdfs:label "Acute-On-Chronic Liver Failure"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements) AnnotationAssertion( "Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate. NEDISHM is caused by homozygous or compound heterozygous mutation in the ZNF142 gene on chromosome 2q35. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-11T16:02:53Z"^^xsd:string) AnnotationAssertion( "MIM:618425"^^xsd:string) AnnotationAssertion( "NEDISHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000239"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations) AnnotationAssertion( "MIM:614868"^^xsd:string) AnnotationAssertion( "MST1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "STK4 DEFICIENCY"^^xsd:string) AnnotationAssertion( "TIIAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000240"^^xsd:string) AnnotationAssertion(rdfs:label "T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations"^^xsd:string) SubClassOf( ) # Class: (Contrecoup Injury) AnnotationAssertion(Annotation( "MESH:D056886"^^xsd:string) "An injury in which the damage is located on the opposite side of the primary impact site. A blow to the back of head which results in contrecoup injury to the frontal lobes of the brain is the most common type."^^xsd:string) AnnotationAssertion( "MESH:D056886"^^xsd:string) AnnotationAssertion( "RDO:0007766"^^xsd:string) AnnotationAssertion( "Contre coup Injury"^^xsd:string) AnnotationAssertion( "Contre-coup Injuries"^^xsd:string) AnnotationAssertion( "Contrecoup Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000241"^^xsd:string) AnnotationAssertion(rdfs:label "Contrecoup Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lymphoma, AIDS-Related) AnnotationAssertion(Annotation( "MESH:D016483"^^xsd:string) "B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation."^^xsd:string) AnnotationAssertion( "EFO:1000077"^^xsd:string) AnnotationAssertion( "EFO:1001365"^^xsd:string) AnnotationAssertion( "MESH:D016483"^^xsd:string) AnnotationAssertion( "RDO:0006960"^^xsd:string) AnnotationAssertion( "AIDS Associated Lymphoma"^^xsd:string) AnnotationAssertion( "AIDS-Associated Lymphomas"^^xsd:string) AnnotationAssertion( "AIDS-Related Lymphomas"^^xsd:string) AnnotationAssertion( "HIV Related Lymphoma"^^xsd:string) AnnotationAssertion( "HIV-Related Lymphomas"^^xsd:string) AnnotationAssertion( "AIDS-Related Primary Central Nervous System Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000242"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphoma, AIDS-Related"^^xsd:string) SubClassOf( ) # Class: (cardioembolic stroke) AnnotationAssertion(Annotation( "EFO:1001976"^^xsd:string) "This is a pathological condition caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-06T10:54:24Z"^^xsd:string) AnnotationAssertion( "EFO:1001976"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000243"^^xsd:string) AnnotationAssertion(rdfs:label "cardioembolic stroke"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia-Syndactyly Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:35:29Z"^^xsd:string) AnnotationAssertion( "MIM:PS613573"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000244"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia-Syndactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Systolic Murmurs) AnnotationAssertion(Annotation( "MESH:D054160"^^xsd:string) "Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs."^^xsd:string) AnnotationAssertion( "MESH:D054160"^^xsd:string) AnnotationAssertion( "Ejection Murmur"^^xsd:string) AnnotationAssertion( "Ejection Murmurs"^^xsd:string) AnnotationAssertion( "Systolic Murmur"^^xsd:string) AnnotationAssertion( "Systolic Regurgitant Murmur"^^xsd:string) AnnotationAssertion( "Systolic Regurgitant Murmurs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000245"^^xsd:string) AnnotationAssertion(rdfs:label "Systolic Murmurs"^^xsd:string) SubClassOf( ) # Class: (Joint Loose Bodies) AnnotationAssertion(Annotation( "MESH:D007594"^^xsd:string) "Fibrous, bony, cartilaginous and osteocartilaginous fragments in a synovial joint. Major causes are osteochondritis dissecans, synovial chondromatosis, osteophytes, fractured articular surfaces and damaged menisci."^^xsd:string) AnnotationAssertion( "MESH:D007594"^^xsd:string) AnnotationAssertion( "RDO:0005925"^^xsd:string) AnnotationAssertion( "Joint Loose Body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000246"^^xsd:string) AnnotationAssertion(rdfs:label "Joint Loose Bodies"^^xsd:string) SubClassOf( ) # Class: (Panic Disorder with Joint Laxity) AnnotationAssertion( "MESH:C566835"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000247"^^xsd:string) AnnotationAssertion(rdfs:label "Panic Disorder with Joint Laxity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nephropathy, Deafness, and Hyperparathyroidism) AnnotationAssertion( "MIM:256120"^^xsd:string) AnnotationAssertion( "MESH:C536401"^^xsd:string) AnnotationAssertion( "Nephropathy-Deafness-Hyperparathyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000248"^^xsd:string) AnnotationAssertion(rdfs:label "Nephropathy, Deafness, and Hyperparathyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oculorenocerebellar Syndrome) AnnotationAssertion( "MIM:257970"^^xsd:string) AnnotationAssertion( "MESH:C537739"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000249"^^xsd:string) AnnotationAssertion(rdfs:label "Oculorenocerebellar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardioacrofacial Dysplasia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T16:52:35Z"^^xsd:string) AnnotationAssertion( "MIM:PS619142"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000250"^^xsd:string) AnnotationAssertion(rdfs:label "Cardioacrofacial Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (DNA Virus Infections) AnnotationAssertion(Annotation( "MESH:D004266"^^xsd:string) "Diseases caused by DNA VIRUSES."^^xsd:string) AnnotationAssertion( "MESH:D004266"^^xsd:string) AnnotationAssertion( "RDO:0004744"^^xsd:string) AnnotationAssertion( "DNA Virus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000251"^^xsd:string) AnnotationAssertion(rdfs:label "DNA Virus Infections"^^xsd:string) SubClassOf( ) # Class: (Allergic Rhinoconjunctivitis) AnnotationAssertion( "Conjunctivitis and rhinitis due to hypersensitivity to various allergens."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000252"^^xsd:string) AnnotationAssertion(rdfs:label "Allergic Rhinoconjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bazopoulou Kyrkanidou Syndrome) AnnotationAssertion( "MESH:C537664"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000253"^^xsd:string) AnnotationAssertion(rdfs:label "Bazopoulou Kyrkanidou Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Hereditary Motor Neuropathy, Type II) AnnotationAssertion( "RDO:0015879"^^xsd:string) AnnotationAssertion( "MESH:C580044"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000254"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Hereditary Motor Neuropathy, Type II"^^xsd:string) SubClassOf( ) # Class: (Chromosomes 1 and 2, Monosomy 2q Duplication 1p) AnnotationAssertion( "MESH:C535455"^^xsd:string) AnnotationAssertion( "RDO:0000576"^^xsd:string) AnnotationAssertion( "Deletion 2q duplication 1p"^^xsd:string) AnnotationAssertion( "Monosomy 2q duplication 1p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000255"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosomes 1 and 2, Monosomy 2q Duplication 1p"^^xsd:string) SubClassOf( ) # Class: (Duodenal Neoplasms) AnnotationAssertion(Annotation( "MESH:D004379"^^xsd:string) "Tumors or cancer of the DUODENUM."^^xsd:string) AnnotationAssertion( "RDO:0005399"^^xsd:string) AnnotationAssertion( "MESH:D004379"^^xsd:string) AnnotationAssertion( "duodenal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000256"^^xsd:string) AnnotationAssertion(rdfs:label "Duodenal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8, Monosomy 8p23 1) AnnotationAssertion( "MESH:C537827"^^xsd:string) AnnotationAssertion( "Deletion 8p23 1"^^xsd:string) AnnotationAssertion( "Monosomy 8p23 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000257"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Monosomy 8p23 1"^^xsd:string) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 4) AnnotationAssertion( "MIM:610333"^^xsd:string) AnnotationAssertion( "MESH:C563681"^^xsd:string) AnnotationAssertion( "AGS4"^^xsd:string) AnnotationAssertion( "RNASEH2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000258"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE) AnnotationAssertion( "A disease displaying severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616897"^^xsd:string) AnnotationAssertion( "RDO:9001172"^^xsd:string) AnnotationAssertion( "OCLSBG"^^xsd:string) AnnotationAssertion( "Symoens-Barnes-Gistelinck type of complex lethal osteochondrodysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000260"^^xsd:string) AnnotationAssertion(rdfs:label "OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE"^^xsd:string) SubClassOf( ) # Class: (Pseudodiastrophic Dysplasia) AnnotationAssertion( "MIM:264180"^^xsd:string) AnnotationAssertion( "MESH:C535826"^^xsd:string) AnnotationAssertion( "pseudodiastrophic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000261"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudodiastrophic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Arthrogryposis, with Mental Retardation and Characteristic Facies) AnnotationAssertion( "MIM:208081"^^xsd:string) AnnotationAssertion( "MESH:C565940"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000262"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis, with Mental Retardation and Characteristic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation Spasticity Ectrodactyly) AnnotationAssertion( "MESH:C537446"^^xsd:string) AnnotationAssertion( "RDO:0003289"^^xsd:string) AnnotationAssertion( "Ectrodactyly, spastic paraplegia and mental retardation"^^xsd:string) AnnotationAssertion( "Jancar syndrome"^^xsd:string) AnnotationAssertion( "Mental retardation, spasticity and transverse limb defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000263"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Spasticity Ectrodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypercalcemia, Infantile, 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616963"^^xsd:string) AnnotationAssertion( "HCINF2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000264"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalcemia, Infantile, 2"^^xsd:string) SubClassOf( ) # Class: (Specific Granule Deficiency) AnnotationAssertion( "MESH:C562873"^^xsd:string) AnnotationAssertion( "MIM:PS245480"^^xsd:string) AnnotationAssertion( "Lactoferrin-Deficient Neutrophils"^^xsd:string) AnnotationAssertion( "Neutrophil Lactoferrin Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000265"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Granule Deficiency"^^xsd:string) SubClassOf( ) # Class: (Lutz Richner Landolt Syndrome) AnnotationAssertion( "MIM:210550"^^xsd:string) AnnotationAssertion( "MESH:C537726"^^xsd:string) AnnotationAssertion( "Biliary malformation with renal tubular insufficiency"^^xsd:string) AnnotationAssertion( "Cholestatic jaundice and renal tubular insufficiency"^^xsd:string) AnnotationAssertion( "Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000266"^^xsd:string) AnnotationAssertion(rdfs:label "Lutz Richner Landolt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA) AnnotationAssertion( "MIM:617182"^^xsd:string) AnnotationAssertion( "LADCI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000267"^^xsd:string) AnnotationAssertion(rdfs:label "LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Robinson Miller Bensimon Syndrome) AnnotationAssertion( "MESH:C535864"^^xsd:string) AnnotationAssertion( "RDO:0001205"^^xsd:string) AnnotationAssertion( "Deafness and onychodystrophy, dominant form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000268"^^xsd:string) AnnotationAssertion(rdfs:label "Robinson Miller Bensimon Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epithelioid Hemangioendothelioma) AnnotationAssertion(Annotation( "MESH:D018323"^^xsd:string) "A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have 'borderline' aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "RDO:0007183"^^xsd:string) AnnotationAssertion( "MESH:D018323"^^xsd:string) AnnotationAssertion( "Epithelioid Hemangioendotheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000269"^^xsd:string) AnnotationAssertion(rdfs:label "Epithelioid Hemangioendothelioma"^^xsd:string) SubClassOf( ) # Class: (Congenital Central Hypoventilation Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T16:02:13Z"^^xsd:string) AnnotationAssertion( "MIM:209880"^^xsd:string) AnnotationAssertion( "CCHS1"^^xsd:string) AnnotationAssertion( "congenital central hypoventilation syndrome 1 with or without Hirschsprung disease"^^xsd:string) AnnotationAssertion( "CCHS with Hirschsprung disease"^^xsd:string) AnnotationAssertion( "HADDAD SYNDROME"^^xsd:string) AnnotationAssertion( "congenital central hypoventilation syndrome with Hirschsprung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000270"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Central Hypoventilation Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation) AnnotationAssertion(Annotation( "MIM:617011"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay."^^xsd:string) AnnotationAssertion( "MIM:617011"^^xsd:string) AnnotationAssertion( "MDFPMR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000271"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia) AnnotationAssertion( "RDO:0013590"^^xsd:string) AnnotationAssertion( "MESH:C564725"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000272"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carnevale Hernandez Castillo Syndrome) AnnotationAssertion( "MESH:C535585"^^xsd:string) AnnotationAssertion( "RDO:0000797"^^xsd:string) AnnotationAssertion( "Triphalyngeal thumbs and brachyectrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000273"^^xsd:string) AnnotationAssertion(rdfs:label "Carnevale Hernandez Castillo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Acute Myeloid Leukemia with Mutated Cebpa) AnnotationAssertion( "MESH:C580075"^^xsd:string) AnnotationAssertion( "RDO:0015886"^^xsd:string) AnnotationAssertion( "Cebpa-Dependent Familial Acute Myeloid Leukemia"^^xsd:string) AnnotationAssertion( "Familial Acute Myeloid Leukaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000274"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Acute Myeloid Leukemia with Mutated Cebpa"^^xsd:string) SubClassOf( ) # Class: (Acute Radiation Syndrome) AnnotationAssertion(Annotation( "MESH:D054508"^^xsd:string) "A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction."^^xsd:string) AnnotationAssertion( "MESH:D054508"^^xsd:string) AnnotationAssertion( "RDO:0007678"^^xsd:string) AnnotationAssertion( "Acute Radiation Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000275"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Radiation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Juvenile Amyotrophic Lateral Sclerosis) AnnotationAssertion(Annotation( "ISBN13:9780070005143"^^xsd:string) "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually before the age of 25. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-23T15:09:21Z"^^xsd:string) AnnotationAssertion( "ALSJ"^^xsd:string) AnnotationAssertion( "JALS"^^xsd:string) AnnotationAssertion( "juvenile ALS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000276"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Amyotrophic Lateral Sclerosis"^^xsd:string) SubClassOf( ) # Class: (Radiation-Induced Neoplasms) AnnotationAssertion(Annotation( "MESH:D009381"^^xsd:string) "Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation."^^xsd:string) AnnotationAssertion( "MESH:D009381"^^xsd:string) AnnotationAssertion( "Radiation Induced Cancer"^^xsd:string) AnnotationAssertion( "Radiation-Induced Cancers"^^xsd:string) AnnotationAssertion( "Radiation-Induced Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000277"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation-Induced Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adult Parathyroid Cancer) AnnotationAssertion( "RDO:0002958"^^xsd:string) AnnotationAssertion( "MESH:C537173"^^xsd:string) AnnotationAssertion( "parathyroid carcinoma, adult"^^xsd:string) AnnotationAssertion( "parathyroid neoplasm, adult"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000278"^^xsd:string) AnnotationAssertion(rdfs:label "Adult Parathyroid Cancer"^^xsd:string) SubClassOf( ) # Class: (Congenital Progeroid Syndrome, Petty Type) AnnotationAssertion( "MIM:612289"^^xsd:string) AnnotationAssertion( "MESH:C567360"^^xsd:string) AnnotationAssertion( "CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE"^^xsd:string) AnnotationAssertion( "FPS"^^xsd:string) AnnotationAssertion( "Fontaine progeroid syndrome"^^xsd:string) AnnotationAssertion( "Gorlin-Chaudhry-Moss syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000279"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Progeroid Syndrome, Petty Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ataxia-Telangiectasia Variant V2) AnnotationAssertion( "MESH:C565380"^^xsd:string) AnnotationAssertion( "RDO:0014031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000280"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia-Telangiectasia Variant V2"^^xsd:string) SubClassOf( ) # Class: (Parkinson's Disease 16) AnnotationAssertion( "MIM:613164"^^xsd:string) AnnotationAssertion( "MESH:C567726"^^xsd:string) AnnotationAssertion( "PARK16"^^xsd:string) AnnotationAssertion( "Parkinson Disease 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000281"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 16"^^xsd:string) SubClassOf( ) # Class: (IMAGEI Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618336"^^xsd:string) AnnotationAssertion( "IMAGEI"^^xsd:string) AnnotationAssertion( "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000282"^^xsd:string) AnnotationAssertion(rdfs:label "IMAGEI Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Islet Cell Adenoma) AnnotationAssertion(Annotation( "MESH:D007516"^^xsd:string) "A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM."^^xsd:string) AnnotationAssertion( "MESH:D007516"^^xsd:string) AnnotationAssertion( "NCI:C34051"^^xsd:string) AnnotationAssertion( "islet cell adenomas"^^xsd:string) AnnotationAssertion( "nesidioblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000283"^^xsd:string) AnnotationAssertion(rdfs:label "Islet Cell Adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-linked Microhydranencephaly) AnnotationAssertion( "MIM:306990"^^xsd:string) AnnotationAssertion( "MESH:C564409"^^xsd:string) AnnotationAssertion( "Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence"^^xsd:string) AnnotationAssertion( "MHACX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000284"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Microhydranencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mucopolysaccharidosis VIII) AnnotationAssertion( "MESH:C563094"^^xsd:string) AnnotationAssertion( "Diferrante Syndrome"^^xsd:string) AnnotationAssertion( "Glucosamine-6-Sulfate Sulfatase Deficiency"^^xsd:string) AnnotationAssertion( "MPS VIII"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type VIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000285"^^xsd:string) AnnotationAssertion(rdfs:label "Mucopolysaccharidosis VIII"^^xsd:string) SubClassOf( ) # Class: (Myopia 13) AnnotationAssertion( "MIM:300613"^^xsd:string) AnnotationAssertion( "MESH:C564473"^^xsd:string) AnnotationAssertion( "MYOPIA 13, X-LINKED"^^xsd:string) AnnotationAssertion( "MYP13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000286"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Muscular Dystrophy, Pectorodorsal) AnnotationAssertion( "MIM:310095"^^xsd:string) AnnotationAssertion( "RDO:0013168"^^xsd:string) AnnotationAssertion( "MESH:C564095"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Progressive, Involving Shoulder Girdle and Back"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000287"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Muscular Dystrophy, Pectorodorsal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic Intermittent Hypoxia) AnnotationAssertion( "This condition involves repetitive cycles of hypoxia and normoxia, which resembles the fluctuation of oxygen saturation in obstructive sleep apnea."^^xsd:string) AnnotationAssertion( "CIH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000288"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Intermittent Hypoxia"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES) AnnotationAssertion(Annotation( "MIM:619228"^^xsd:string) "A disease characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-08T11:14:32Z"^^xsd:string) AnnotationAssertion( "SATB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619228"^^xsd:string) AnnotationAssertion( "DEFDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000289"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stargardt Disease 3) AnnotationAssertion( "MIM:600110"^^xsd:string) AnnotationAssertion( "STARGARDT DISEASE, DOMINANT"^^xsd:string) AnnotationAssertion( "MESH:C535805"^^xsd:string) AnnotationAssertion( "Macular dystrophy with flecks, type 3"^^xsd:string) AnnotationAssertion( "Macular dystrophy, autosomal dominant, chromosome 6-linked,"^^xsd:string) AnnotationAssertion( "STGD3"^^xsd:string) AnnotationAssertion( "Stargardt-Like Macular Dystrophy, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000290"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt Disease 3"^^xsd:string) SubClassOf( ) # Class: (Athletic Injuries) AnnotationAssertion(Annotation( "MESH:D001265"^^xsd:string) "Injuries incurred during participation in competitive or non-competitive sports."^^xsd:string) AnnotationAssertion( "MESH:D001265"^^xsd:string) AnnotationAssertion( "Athletic Injury"^^xsd:string) AnnotationAssertion( "Sports Injuries"^^xsd:string) AnnotationAssertion( "Sports Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000291"^^xsd:string) AnnotationAssertion(rdfs:label "Athletic Injuries"^^xsd:string) SubClassOf( ) # Class: (Respiratory Paralysis) AnnotationAssertion(Annotation( "MESH:D012133"^^xsd:string) "Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders."^^xsd:string) AnnotationAssertion( "EFO:1001840"^^xsd:string) AnnotationAssertion( "MESH:D012133"^^xsd:string) AnnotationAssertion( "Diaphragmatic Paralysis"^^xsd:string) AnnotationAssertion( "Muscle Paralyses, Respiratory"^^xsd:string) AnnotationAssertion( "Respiratory Muscle Paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000292"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemangioendothelioma) AnnotationAssertion(Annotation( "MESH:D006390"^^xsd:string) "A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866)"^^xsd:string) AnnotationAssertion( "MESH:D006390"^^xsd:string) AnnotationAssertion( "RDO:0000320"^^xsd:string) AnnotationAssertion( "Hemangio Endothelioma"^^xsd:string) AnnotationAssertion( "Hemangio-Endotheliomas"^^xsd:string) AnnotationAssertion( "Hemangioendotheliomas"^^xsd:string) AnnotationAssertion( "Vascular Endothelioma"^^xsd:string) AnnotationAssertion( "Vascular Endotheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000293"^^xsd:string) AnnotationAssertion(rdfs:label "Hemangioendothelioma"^^xsd:string) SubClassOf( ) # Class: (Trichilemmoma) AnnotationAssertion( "A benign tumour originating from the outer root sheath of the hair follicle. (HPO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4113"^^xsd:string) AnnotationAssertion( "Tricholemmoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000294"^^xsd:string) AnnotationAssertion(rdfs:label "Trichilemmoma"^^xsd:string) SubClassOf( ) # Class: (Ring Chromosome 14 Syndrome) AnnotationAssertion( "MIM:616606"^^xsd:string) AnnotationAssertion( "MESH:C535487"^^xsd:string) AnnotationAssertion( "NCI:C185638"^^xsd:string) AnnotationAssertion( "Chromosome 14 ring"^^xsd:string) AnnotationAssertion( "Ring 14"^^xsd:string) AnnotationAssertion( "Ring 14 Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000295"^^xsd:string) AnnotationAssertion(rdfs:label "Ring Chromosome 14 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 96) AnnotationAssertion(Annotation( "MIM:619774"^^xsd:string) "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-08T11:24:31Z"^^xsd:string) AnnotationAssertion( "MIM:619774"^^xsd:string) AnnotationAssertion( "IMD96"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000296"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 96"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Jequier Kozlowski Skeletal Dysplasia) AnnotationAssertion( "MESH:C537569"^^xsd:string) AnnotationAssertion( "RDO:0003432"^^xsd:string) AnnotationAssertion( "Cloverleaf skull and bone dysplasias"^^xsd:string) AnnotationAssertion( "Facies unusual arthrogryposis advanced skeletal maturation"^^xsd:string) AnnotationAssertion( "Round face, short small nose, advanced bone age, enlarged diaphysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000297"^^xsd:string) AnnotationAssertion(rdfs:label "Jequier Kozlowski Skeletal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pathological Conditions, Signs and Symptoms) AnnotationAssertion(Annotation( "MESH:D013568"^^xsd:string) "Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome."^^xsd:string) AnnotationAssertion( "MESH:D013568"^^xsd:string) AnnotationAssertion( "symptoms and general pathology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000298"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Pathological Conditions, Signs and Symptoms"^^xsd:string) SubClassOf( ) # Class: (cardiac amyloidosis) AnnotationAssertion(Annotation( "PMID:28279425"^^xsd:string) "This is a disease in which cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-05T15:38:46Z"^^xsd:string) AnnotationAssertion( "EFO:1001984"^^xsd:string) AnnotationAssertion( "HP:0030843"^^xsd:string) AnnotationAssertion( "MP:0021148"^^xsd:string) AnnotationAssertion( "amyloid cardiomyopathy"^^xsd:string) AnnotationAssertion( "amyloid heart disease"^^xsd:string) AnnotationAssertion( "amyloid heart muscle disease"^^xsd:string) AnnotationAssertion( "amyloidosis of heart"^^xsd:string) AnnotationAssertion( "senile cardiac amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000299"^^xsd:string) AnnotationAssertion(rdfs:label "cardiac amyloidosis"^^xsd:string) SubClassOf( ) # Class: (Refractory Anemia) AnnotationAssertion(Annotation( "MESH:D000753"^^xsd:string) "A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy."^^xsd:string) AnnotationAssertion( "RDO:0004835"^^xsd:string) AnnotationAssertion( "EFO:0003802"^^xsd:string) AnnotationAssertion( "MESH:D000753"^^xsd:string) AnnotationAssertion( "NCI:C2872"^^xsd:string) AnnotationAssertion( "Refractory Anemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000300"^^xsd:string) AnnotationAssertion(rdfs:label "Refractory Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myotubular Myopathy with Abnormal Genital Development) AnnotationAssertion( "MIM:300219"^^xsd:string) AnnotationAssertion( "MESH:C564561"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000301"^^xsd:string) AnnotationAssertion(rdfs:label "Myotubular Myopathy with Abnormal Genital Development"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Restrictive Cardiomyopathy 6) AnnotationAssertion( "Characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death. Caused by compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:16:52Z"^^xsd:string) AnnotationAssertion( "MIM:619433"^^xsd:string) AnnotationAssertion( "RCM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000303"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Restrictive Cardiomyopathy 6"^^xsd:string) SubClassOf( ) # Class: (Manganese Poisoning) AnnotationAssertion(Annotation( "MESH:D020149"^^xsd:string) "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON'S DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"^^xsd:string) AnnotationAssertion( "EFO:1001808"^^xsd:string) AnnotationAssertion( "MESH:D020149"^^xsd:string) AnnotationAssertion( "RDO:0007318"^^xsd:string) AnnotationAssertion( "Manganese Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "Manganese Neurotoxicity Syndromes"^^xsd:string) AnnotationAssertion( "Nervous System Diseases, Manganese Induced"^^xsd:string) AnnotationAssertion( "Nervous System Poisoning, Manganese"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000304"^^xsd:string) AnnotationAssertion(rdfs:label "Manganese Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS) AnnotationAssertion(Annotation( "MIM:619147"^^xsd:string) "This disease is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-09T10:23:34Z"^^xsd:string) AnnotationAssertion( "MIM:619147"^^xsd:string) AnnotationAssertion( "LEPID"^^xsd:string) AnnotationAssertion( "LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000305"^^xsd:string) AnnotationAssertion(rdfs:label "LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Presbycusis) AnnotationAssertion(Annotation( "MESH:D011304"^^xsd:string) "Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies."^^xsd:string) AnnotationAssertion( "EFO:0005782"^^xsd:string) AnnotationAssertion( "MESH:D011304"^^xsd:string) AnnotationAssertion( "MONDO:0043765"^^xsd:string) AnnotationAssertion( "ARHL"^^xsd:string) AnnotationAssertion( "Age-related hearing loss"^^xsd:string) AnnotationAssertion( "Presbyacusia"^^xsd:string) AnnotationAssertion( "Presbycuses"^^xsd:string) AnnotationAssertion( "Senile deafness"^^xsd:string) AnnotationAssertion( "age-related hearing impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000307"^^xsd:string) AnnotationAssertion(rdfs:label "Presbycusis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Retroversion) AnnotationAssertion(Annotation( "MESH:D060751"^^xsd:string) "Attachment of a bone in which its head and neck is rotated excessively backward."^^xsd:string) AnnotationAssertion( "MESH:D060751"^^xsd:string) AnnotationAssertion( "Bone Retrotorsion"^^xsd:string) AnnotationAssertion( "Bone Retrotorsions"^^xsd:string) AnnotationAssertion( "Bone Retroversions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000308"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Retroversion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Growth Hormone Insensitivity with Immune Dysregulation) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-09T12:58:24Z"^^xsd:string) AnnotationAssertion( "MIM:PS245590"^^xsd:string) AnnotationAssertion( "growth hormone insensitivity syndrome with immune dysregulation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000309"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Hormone Insensitivity with Immune Dysregulation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lung Injury) AnnotationAssertion(Annotation( "MESH:D055370"^^xsd:string) "Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES."^^xsd:string) AnnotationAssertion( "MESH:D055370"^^xsd:string) AnnotationAssertion( "Lung Injuries"^^xsd:string) AnnotationAssertion( "Pulmonary Injuries"^^xsd:string) AnnotationAssertion( "Pulmonary Injury"^^xsd:string) AnnotationAssertion( "Chronic Lung Injuries"^^xsd:string) AnnotationAssertion( "Chronic Lung Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000310"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lichtenstein Syndrome) AnnotationAssertion( "MIM:246550"^^xsd:string) AnnotationAssertion( "MESH:C535894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000311"^^xsd:string) AnnotationAssertion(rdfs:label "Lichtenstein Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Decerebrate State) AnnotationAssertion(Annotation( "MESH:D003655"^^xsd:string) "A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358)"^^xsd:string) AnnotationAssertion( "MESH:D003655"^^xsd:string) AnnotationAssertion( "RDO:0005312"^^xsd:string) AnnotationAssertion( "Decerebrate Posturing"^^xsd:string) AnnotationAssertion( "Decerebrate Posturings"^^xsd:string) AnnotationAssertion( "Decerebrate Rigidity"^^xsd:string) AnnotationAssertion( "Decerebrate States"^^xsd:string) AnnotationAssertion( "Decorticate Rigidities"^^xsd:string) AnnotationAssertion( "Decorticate Rigidity"^^xsd:string) AnnotationAssertion( "Decorticate State"^^xsd:string) AnnotationAssertion( "Decorticate States"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000312"^^xsd:string) AnnotationAssertion(rdfs:label "Decerebrate State"^^xsd:string) SubClassOf( ) # Class: (Phosphaturic Mesenchymal Tumor) AnnotationAssertion(Annotation( "NCI:C67237"^^xsd:string) "This is an extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-27T15:39:15Z"^^xsd:string) AnnotationAssertion( "EFO:1000473"^^xsd:string) AnnotationAssertion( "PMT"^^xsd:string) AnnotationAssertion( "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type"^^xsd:string) AnnotationAssertion( "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000313"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphaturic Mesenchymal Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Torsion Abnormality) AnnotationAssertion(Annotation( "MESH:D014102"^^xsd:string) "An abnormal twisting or rotation of a bodily part or member on its axis."^^xsd:string) AnnotationAssertion( "MESH:D014102"^^xsd:string) AnnotationAssertion( "RDO:0006725"^^xsd:string) AnnotationAssertion( "Torsion Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000314"^^xsd:string) AnnotationAssertion(rdfs:label "Torsion Abnormality"^^xsd:string) SubClassOf( ) # Class: (Pleural Neoplasms) AnnotationAssertion(Annotation( "MESH:D010997"^^xsd:string) "Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms."^^xsd:string) AnnotationAssertion( "MESH:D010997"^^xsd:string) AnnotationAssertion( "MONDO:0021065"^^xsd:string) AnnotationAssertion( "NCI:C3332"^^xsd:string) AnnotationAssertion( "Pleural Neoplasm"^^xsd:string) AnnotationAssertion( "pleura tumor"^^xsd:string) AnnotationAssertion( "pleural cavity neoplasm"^^xsd:string) AnnotationAssertion( "pleural cavity tumor"^^xsd:string) AnnotationAssertion( "pleural tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000315"^^xsd:string) AnnotationAssertion(rdfs:label "Pleural Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (UV-Sensitive Syndrome 2) AnnotationAssertion( "ERCC8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614621"^^xsd:string) AnnotationAssertion( "NCI:C173110"^^xsd:string) AnnotationAssertion( "UVSS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000316"^^xsd:string) AnnotationAssertion(rdfs:label "UV-Sensitive Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dieterich's Disease) AnnotationAssertion( "MESH:C536172"^^xsd:string) AnnotationAssertion( "Dieterich disease"^^xsd:string) AnnotationAssertion( "avascular necrosis of the metacarpal head"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000318"^^xsd:string) AnnotationAssertion(rdfs:label "Dieterich's Disease"^^xsd:string) SubClassOf( ) # Class: (Lentigo) AnnotationAssertion(Annotation( "MESH:D007911"^^xsd:string) "Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome)."^^xsd:string) AnnotationAssertion( "MIM:150900"^^xsd:string) AnnotationAssertion( "MESH:D007911"^^xsd:string) AnnotationAssertion( "Lentigines"^^xsd:string) AnnotationAssertion( "Lentiginoses"^^xsd:string) AnnotationAssertion( "Lentiginosis"^^xsd:string) AnnotationAssertion( "Lentigos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000319"^^xsd:string) AnnotationAssertion(rdfs:label "Lentigo"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Recessive Nonsyndromic Deafness 117) AnnotationAssertion( "Nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood, caused by homozygous mutation in the CLRN2 gene on chromosome 4p15. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-03T10:35:49Z"^^xsd:string) AnnotationAssertion( "MIM:619174"^^xsd:string) AnnotationAssertion( "CLRN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 117"^^xsd:string) AnnotationAssertion( "DFNB117"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000321"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 117"^^xsd:string) SubClassOf( ) # Class: (Fitz-Hugh-Curtis Syndrome) AnnotationAssertion( "MESH:C537936"^^xsd:string) AnnotationAssertion( "Gonococcal Perihepatitis"^^xsd:string) AnnotationAssertion( "Perihepatitis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000322"^^xsd:string) AnnotationAssertion(rdfs:label "Fitz-Hugh-Curtis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Biventricular Hypertrophy) AnnotationAssertion( "Enlargement of the heart, usually indicated by a cardiothoracic ratio above 0.50, involving both heart ventricles."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "BVH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000323"^^xsd:string) AnnotationAssertion(rdfs:label "Biventricular Hypertrophy"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Limb-Girdle Myasthenia) AnnotationAssertion( "MIM:159400"^^xsd:string) AnnotationAssertion( "MESH:C563552"^^xsd:string) AnnotationAssertion( "limb-girdle myasthenia gravis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000324"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Limb-Girdle Myasthenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abscess) AnnotationAssertion(Annotation( "MESH:D000038"^^xsd:string) "Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection."^^xsd:string) AnnotationAssertion( "EFO:0003030"^^xsd:string) AnnotationAssertion( "MESH:D000038"^^xsd:string) AnnotationAssertion( "Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000325"^^xsd:string) AnnotationAssertion(rdfs:label "Abscess"^^xsd:string) SubClassOf( ) # Class: (Thrombotic Microangiopathies) AnnotationAssertion(Annotation( "MESH:D057049"^^xsd:string) "Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation."^^xsd:string) AnnotationAssertion( "MESH:D057049"^^xsd:string) AnnotationAssertion( "thrombotic microangiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000326"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombotic Microangiopathies"^^xsd:string) SubClassOf( ) # Class: (Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer) AnnotationAssertion( "MIM:246470"^^xsd:string) AnnotationAssertion( "MESH:C565441"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000327"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Uterine Retroversion) AnnotationAssertion(Annotation( "MESH:D060725"^^xsd:string) "A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications."^^xsd:string) AnnotationAssertion( "MESH:D060725"^^xsd:string) AnnotationAssertion( "Incarcerated Retroverted Uterus"^^xsd:string) AnnotationAssertion( "Retroflexed Uterus"^^xsd:string) AnnotationAssertion( "Retroverted Gravid Uterus"^^xsd:string) AnnotationAssertion( "Retroverted Uterus"^^xsd:string) AnnotationAssertion( "Tipped Uterus"^^xsd:string) AnnotationAssertion( "Uterine Retroflexion"^^xsd:string) AnnotationAssertion( "Uterine Retroflexions"^^xsd:string) AnnotationAssertion( "Uterine Retroversions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000329"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Retroversion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kahn-Kahn-Katsanis Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:42:43Z"^^xsd:string) AnnotationAssertion( "MIM:618460"^^xsd:string) AnnotationAssertion( "3K syndrome"^^xsd:string) AnnotationAssertion( "3KS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000330"^^xsd:string) AnnotationAssertion(rdfs:label "Kahn-Kahn-Katsanis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parvoviridae Infections) AnnotationAssertion(Annotation( "MESH:D010322"^^xsd:string) "Virus infections caused by the PARVOVIRIDAE."^^xsd:string) AnnotationAssertion( "MESH:D010322"^^xsd:string) AnnotationAssertion( "RDO:0004800"^^xsd:string) AnnotationAssertion( "Parvoviridae Infection"^^xsd:string) AnnotationAssertion( "Parvovirus Infection"^^xsd:string) AnnotationAssertion( "Parvovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000331"^^xsd:string) AnnotationAssertion(rdfs:label "Parvoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Hypovolemia) AnnotationAssertion(Annotation( "MESH:D020896"^^xsd:string) "An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK)."^^xsd:string) AnnotationAssertion( "MESH:D020896"^^xsd:string) AnnotationAssertion( "Hypovolemias"^^xsd:string) AnnotationAssertion( "Hypovolemic"^^xsd:string) AnnotationAssertion( "Hypovolemics"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000332"^^xsd:string) AnnotationAssertion(rdfs:label "Hypovolemia"^^xsd:string) SubClassOf( ) # Class: (Progressive Vestibulocochlear Dysfunction) AnnotationAssertion( "MIM:193005"^^xsd:string) AnnotationAssertion( "MESH:C536346"^^xsd:string) AnnotationAssertion( "Familial progressive vestibulo-cochlear dysfunction"^^xsd:string) AnnotationAssertion( "Familial progressive vestibulocochlear dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000333"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Vestibulocochlear Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Metaphyseal Dysplasia, Braun-Tinschert Type) AnnotationAssertion( "MIM:605946"^^xsd:string) AnnotationAssertion( "MESH:C565271"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000334"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Dysplasia, Braun-Tinschert Type"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 8) AnnotationAssertion( "MIM:614628"^^xsd:string) AnnotationAssertion( "KTCN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000335"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 8"^^xsd:string) SubClassOf( ) # Class: (Epispadias) AnnotationAssertion(Annotation( "MESH:D004842"^^xsd:string) "A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN."^^xsd:string) AnnotationAssertion( "MESH:D004842"^^xsd:string) AnnotationAssertion( "Epispadia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000336"^^xsd:string) AnnotationAssertion(rdfs:label "Epispadias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parental Death) AnnotationAssertion(Annotation( "MESH:D063129"^^xsd:string) "The death of the father or mother or another person in this role."^^xsd:string) AnnotationAssertion( "MESH:D063129"^^xsd:string) AnnotationAssertion( "RDO:0012111"^^xsd:string) AnnotationAssertion( "Parental Deaths"^^xsd:string) AnnotationAssertion( "Paternal Death"^^xsd:string) AnnotationAssertion( "Paternal Deaths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000337"^^xsd:string) AnnotationAssertion(rdfs:label "Parental Death"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 102) AnnotationAssertion(Annotation( "MIM:301082"^^xsd:string) "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Caused by hemizygous mutation in the SASH3 gene on chromosome Xq26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-02T12:29:40Z"^^xsd:string) AnnotationAssertion( "MIM:301082"^^xsd:string) AnnotationAssertion( "IMD102"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000339"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 102"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Concentric Annular Macular Dystrophy) AnnotationAssertion( "MIM:153870"^^xsd:string) AnnotationAssertion( "IMPG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537833"^^xsd:string) AnnotationAssertion( "BCAMD"^^xsd:string) AnnotationAssertion( "MCDCA"^^xsd:string) AnnotationAssertion( "RP91"^^xsd:string) AnnotationAssertion( "benign concentric annular macular dystrophy"^^xsd:string) AnnotationAssertion( "bull's eye maculopathy"^^xsd:string) AnnotationAssertion( "retinitis pigmentosa 91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000341"^^xsd:string) AnnotationAssertion(rdfs:label "Concentric Annular Macular Dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Vision Disorders) AnnotationAssertion(Annotation( "MESH:D014786"^^xsd:string) "Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)."^^xsd:string) AnnotationAssertion( "MESH:D014786"^^xsd:string) AnnotationAssertion( "MONDO:0021084"^^xsd:string) AnnotationAssertion( "Day Blindness"^^xsd:string) AnnotationAssertion( "Hemeralopia"^^xsd:string) AnnotationAssertion( "Macropsia"^^xsd:string) AnnotationAssertion( "Metamorphopsia"^^xsd:string) AnnotationAssertion( "Metamorphopsias"^^xsd:string) AnnotationAssertion( "Micropsia"^^xsd:string) AnnotationAssertion( "Micropsias"^^xsd:string) AnnotationAssertion( "Vision Disabilities"^^xsd:string) AnnotationAssertion( "Vision Disability"^^xsd:string) AnnotationAssertion( "Vision Disorder"^^xsd:string) AnnotationAssertion( "hemeralopias"^^xsd:string) AnnotationAssertion( "macropsias"^^xsd:string) AnnotationAssertion( "visual disorder"^^xsd:string) AnnotationAssertion( "visual disorders"^^xsd:string) AnnotationAssertion( "visual impairment"^^xsd:string) AnnotationAssertion( "visual impairments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000343"^^xsd:string) AnnotationAssertion(rdfs:label "Vision Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Periventricular Laminar Heterotopia) AnnotationAssertion( "RDO:0004674"^^xsd:string) AnnotationAssertion( "MESH:C548481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000345"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Laminar Heterotopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIt) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-21T12:14:24Z"^^xsd:string) AnnotationAssertion( "MIM:618885"^^xsd:string) AnnotationAssertion( "CDG IIt"^^xsd:string) AnnotationAssertion( "CDG2T"^^xsd:string) AnnotationAssertion( "CDGIIt"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000346"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIt"^^xsd:string) SubClassOf( ) # Class: (Multisystem Autoimmune Disease, Infantile-Onset, 1) AnnotationAssertion( "A disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. (OMIM)"^^xsd:string) AnnotationAssertion( "STAT3-RELATED CONDITIONS"^^xsd:string) AnnotationAssertion( "MIM:615952"^^xsd:string) AnnotationAssertion( "NCI:C157123"^^xsd:string) AnnotationAssertion( "ORDO:438159"^^xsd:string) AnnotationAssertion( "ADMIO1"^^xsd:string) AnnotationAssertion( "STAT3-related early-onset multisystem autoimmune disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000347"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystem Autoimmune Disease, Infantile-Onset, 1"^^xsd:string) SubClassOf( ) # Class: (Confusion) AnnotationAssertion(Annotation( "MESH:D003221"^^xsd:string) "A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation."^^xsd:string) AnnotationAssertion( "EFO:0020914"^^xsd:string) AnnotationAssertion( "MESH:D003221"^^xsd:string) AnnotationAssertion( "Bewilderment"^^xsd:string) AnnotationAssertion( "Confusional State"^^xsd:string) AnnotationAssertion( "Confusional States"^^xsd:string) AnnotationAssertion( "Disorientation"^^xsd:string) AnnotationAssertion( "Post-Ictal Confusion"^^xsd:string) AnnotationAssertion( "Reactive Confusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000348"^^xsd:string) AnnotationAssertion(rdfs:label "Confusion"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia with Kallmann Syndrome) AnnotationAssertion( "MIM:308750"^^xsd:string) AnnotationAssertion( "MESH:C536873"^^xsd:string) AnnotationAssertion( "Familial spastic paraplegia with Kallmann's syndrome"^^xsd:string) AnnotationAssertion( "Spastic Paraplegia-Kallmann Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000349"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia with Kallmann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Toxocara Canis Infection (Canine Roundworms)) AnnotationAssertion( "MESH:C531834"^^xsd:string) AnnotationAssertion( "RDO:0000227"^^xsd:string) AnnotationAssertion( "Human infection with the larvae of canine or feline roundworms"^^xsd:string) AnnotationAssertion( "Toxocara catis infection (feline roundworms)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000350"^^xsd:string) AnnotationAssertion(rdfs:label "Toxocara Canis Infection (Canine Roundworms)"^^xsd:string) SubClassOf( ) # Class: (Diarrhea 9) AnnotationAssertion(Annotation( "MIM:618168"^^xsd:string) "A form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-12-06T14:44:13Z"^^xsd:string) AnnotationAssertion( "CHRONIC DIARRHEA"^^xsd:string) AnnotationAssertion( "MIM:618168"^^xsd:string) AnnotationAssertion( "DIAR9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000351"^^xsd:string) AnnotationAssertion(rdfs:label "Diarrhea 9"^^xsd:string) SubClassOf( ) # Class: (Vascular System Injuries) AnnotationAssertion(Annotation( "MESH:D057772"^^xsd:string) "Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS."^^xsd:string) AnnotationAssertion( "MESH:D057772"^^xsd:string) AnnotationAssertion( "RDO:0007794"^^xsd:string) AnnotationAssertion( "Vascular Injuries"^^xsd:string) AnnotationAssertion( "Vascular Injury"^^xsd:string) AnnotationAssertion( "Vascular System Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000352"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular System Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Callosities) AnnotationAssertion(Annotation( "MESH:D002145"^^xsd:string) "Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D002145"^^xsd:string) AnnotationAssertion( "Callosity"^^xsd:string) AnnotationAssertion( "Corns"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000353"^^xsd:string) AnnotationAssertion(rdfs:label "Callosities"^^xsd:string) SubClassOf( ) # Class: (Fish Diseases) AnnotationAssertion(Annotation( "MESH:D005393"^^xsd:string) "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)."^^xsd:string) AnnotationAssertion( "MESH:D005393"^^xsd:string) AnnotationAssertion( "RDO:0005610"^^xsd:string) AnnotationAssertion( "Fish Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000354"^^xsd:string) AnnotationAssertion(rdfs:label "Fish Diseases"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Microcephaly and Gray Sclerae) AnnotationAssertion( "MRT55 is caused by homozygous mutation in the PUS3 gene on chromosome 11q24."^^xsd:string) AnnotationAssertion( "MIM:617051"^^xsd:string) AnnotationAssertion( "MRT55"^^xsd:string) AnnotationAssertion( "Mental Retardation, Autosomal Recessive 55"^^xsd:string) AnnotationAssertion( "NEDMIGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000355"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly and Gray Sclerae"^^xsd:string) SubClassOf( ) # Class: (Transaldolase Deficiency) AnnotationAssertion( "Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure. Transaldolase deficiency is caused by homozygous or compound heterozygous mutation in the TALDO1 gene on chromosome 11p15. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:606003"^^xsd:string) AnnotationAssertion( "MESH:C563207"^^xsd:string) AnnotationAssertion( "Eyaid syndrome"^^xsd:string) AnnotationAssertion( "TALDO deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000356"^^xsd:string) AnnotationAssertion(rdfs:label "Transaldolase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Male Breast Neoplasms) AnnotationAssertion( "Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females."^^xsd:string) AnnotationAssertion( "RDO:0007219"^^xsd:string) AnnotationAssertion( "MESH:D018567"^^xsd:string) AnnotationAssertion( "Male Breast Neoplasm"^^xsd:string) AnnotationAssertion( "Male Breast Tumor"^^xsd:string) AnnotationAssertion( "Male Breast Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000357"^^xsd:string) AnnotationAssertion(rdfs:label "Male Breast Neoplasms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY) AnnotationAssertion(Annotation( "MIM:619847"^^xsd:string) "This disease is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-28T10:21:16Z"^^xsd:string) AnnotationAssertion( "MIM:619847"^^xsd:string) AnnotationAssertion( "CONPM"^^xsd:string) AnnotationAssertion( "childhood-onset neurodegeneration with progressive microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000359"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane) AnnotationAssertion( "MIM:206300"^^xsd:string) AnnotationAssertion( "RDO:0014453"^^xsd:string) AnnotationAssertion( "MESH:C565953"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000361"^^xsd:string) AnnotationAssertion(rdfs:label "Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane"^^xsd:string) SubClassOf( ) # Class: (Adrenal Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D000310"^^xsd:string) "Tumors or cancer of the ADRENAL GLANDS."^^xsd:string) AnnotationAssertion( "RDO:0001990"^^xsd:string) AnnotationAssertion( "EFO:0003850"^^xsd:string) AnnotationAssertion( "MESH:D000310"^^xsd:string) AnnotationAssertion( "adrenal gland neoplasm"^^xsd:string) AnnotationAssertion( "adrenal neoplasm"^^xsd:string) AnnotationAssertion( "adrenal neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of adrenal gland"^^xsd:string) AnnotationAssertion( "tumor of the adrenal gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000362"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Gland Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hematuria) AnnotationAssertion(Annotation( "MESH:D006417"^^xsd:string) "Presence of blood in the urine."^^xsd:string) AnnotationAssertion( "MESH:D006417"^^xsd:string) AnnotationAssertion( "Hematurias"^^xsd:string) AnnotationAssertion( "MACROSCOPIC HEMATURIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000363"^^xsd:string) AnnotationAssertion(rdfs:label "Hematuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 92) AnnotationAssertion(Annotation( "MIM:619652"^^xsd:string) "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Caused by homozygous mutation in the REL gene on chromosome 2p16."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-14T10:19:35Z"^^xsd:string) AnnotationAssertion( "MIM:619652"^^xsd:string) AnnotationAssertion( "IMD92"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000365"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 92"^^xsd:string) SubClassOf( ) # Class: (Isolated Thyrotropin Deficiency) AnnotationAssertion( "RDO:0016057"^^xsd:string) AnnotationAssertion( "MESH:C000610012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000366"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Thyrotropin Deficiency"^^xsd:string) SubClassOf( ) # Class: (Multiple Trauma) AnnotationAssertion(Annotation( "MESH:D009104"^^xsd:string) "Multiple physical insults or injuries occurring simultaneously."^^xsd:string) AnnotationAssertion( "MESH:D009104"^^xsd:string) AnnotationAssertion( "RDO:0006151"^^xsd:string) AnnotationAssertion( "Multiple Injuries"^^xsd:string) AnnotationAssertion( "Multiple Injury"^^xsd:string) AnnotationAssertion( "Multiple Traumas"^^xsd:string) AnnotationAssertion( "Multiple Wound"^^xsd:string) AnnotationAssertion( "Multiple Wounds"^^xsd:string) AnnotationAssertion( "Polytrauma"^^xsd:string) AnnotationAssertion( "Polytraumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000367"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Trauma"^^xsd:string) SubClassOf( ) # Class: (Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets) AnnotationAssertion(Annotation( "MIM:618372"^^xsd:string) "Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa. GURDP is caused by homozygous or compound heterozygous mutation in the PLA2G4A gene on chromosome 1q31."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010263"^^xsd:string) AnnotationAssertion( "MIM:618372"^^xsd:string) AnnotationAssertion( "RDO:9001198"^^xsd:string) AnnotationAssertion( "GURDP"^^xsd:string) AnnotationAssertion( "Phospholipase A2, Group IVA, Deficiency of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000368"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Talonavicular Coalition) AnnotationAssertion( "MIM:186750"^^xsd:string) AnnotationAssertion( "MESH:C536895"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000369"^^xsd:string) AnnotationAssertion(rdfs:label "Talonavicular Coalition"^^xsd:string) SubClassOf( ) # Class: (streptococcal pharyngitis) AnnotationAssertion(Annotation( "NCI:C116003"^^xsd:string) "This is inflammation of the throat due to Streptococcus pyogenes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-02T15:38:35Z"^^xsd:string) AnnotationAssertion( "EFO:1002024"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000370"^^xsd:string) AnnotationAssertion(rdfs:label "streptococcal pharyngitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (influenza A) AnnotationAssertion(Annotation( "https://www.healthline.com"^^xsd:string) Annotation( "https://www.merriam-webster.com/"^^xsd:string) "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenza virus A, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. Because type A influenza viruses mutate quickly, creating new strains from one flu season to the next., past flu vaccinations will not prevent infection from a new strain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-21T18:43:42Z"^^xsd:string) AnnotationAssertion( "PMID:27438481"^^xsd:string) AnnotationAssertion( "Influenza caused by Influenza A virus"^^xsd:string) AnnotationAssertion( "Influenza due to Influenza A virus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000371"^^xsd:string) AnnotationAssertion(rdfs:label "influenza A"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-01T12:08:25Z"^^xsd:string) AnnotationAssertion( "TRIO-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618825"^^xsd:string) AnnotationAssertion( "MRD63"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 63 with macrocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000372"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muscle Cramp) AnnotationAssertion(Annotation( "MESH:D009120"^^xsd:string) "A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)"^^xsd:string) AnnotationAssertion( "EFO:0009846"^^xsd:string) AnnotationAssertion( "MESH:D009120"^^xsd:string) AnnotationAssertion( "Cramp"^^xsd:string) AnnotationAssertion( "Cramps"^^xsd:string) AnnotationAssertion( "Limb Cramp"^^xsd:string) AnnotationAssertion( "Limb Cramps"^^xsd:string) AnnotationAssertion( "Muscle Cramps"^^xsd:string) AnnotationAssertion( "Muscular Cramp"^^xsd:string) AnnotationAssertion( "Muscular Cramps"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000373"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Cramp"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Drowning) AnnotationAssertion(Annotation( "MESH:D004332"^^xsd:string) "Death that occurs as a result of anoxia or heart arrest, associated with immersion in liquid."^^xsd:string) AnnotationAssertion( "MESH:D004332"^^xsd:string) AnnotationAssertion( "Drownings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000375"^^xsd:string) AnnotationAssertion(rdfs:label "Drowning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cone-Rod Dystrophy and Hearing Loss 1) AnnotationAssertion(Annotation( "MIM:617236"^^xsd:string) "CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-04T11:40:22Z"^^xsd:string) AnnotationAssertion( "MIM:617236"^^xsd:string) AnnotationAssertion( "CRDHL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000376"^^xsd:string) AnnotationAssertion(rdfs:label "Cone-Rod Dystrophy and Hearing Loss 1"^^xsd:string) SubClassOf( ) # Class: (Liberfarb Syndrome) AnnotationAssertion( "A progressive disorder involving connective tissue, bone, retina, ear, and brain. Caused by homozygous mutation in the PISD gene on chromosome 22q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-02T12:49:37Z"^^xsd:string) AnnotationAssertion( "MIM:618889"^^xsd:string) AnnotationAssertion( "LIBF"^^xsd:string) AnnotationAssertion( "PISD-RELATED MITOCHONDRIAL DISEASE"^^xsd:string) AnnotationAssertion( "SEMDLIBF"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia, Liberfarb type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000377"^^xsd:string) AnnotationAssertion(rdfs:label "Liberfarb Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Anosmia) AnnotationAssertion( "MIM:107200"^^xsd:string) AnnotationAssertion( "MIM:301700"^^xsd:string) AnnotationAssertion( "MESH:C535983"^^xsd:string) AnnotationAssertion( "ANIC"^^xsd:string) AnnotationAssertion( "Isolated congenital anosmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000378"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Anosmia"^^xsd:string) SubClassOf( ) # Class: (Isolated Syringomyelia) AnnotationAssertion( "MIM:186700"^^xsd:string) AnnotationAssertion( "MESH:C566084"^^xsd:string) AnnotationAssertion( "RDO:0014546"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000379"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Syringomyelia"^^xsd:string) SubClassOf( ) # Class: (Spondylarthritis) AnnotationAssertion(Annotation( "MESH:D025241"^^xsd:string) "Inflammation of the joints of the SPINE, the intervertebral articulations."^^xsd:string) AnnotationAssertion( "MESH:D025241"^^xsd:string) AnnotationAssertion( "Spinal Arthritides"^^xsd:string) AnnotationAssertion( "Spinal Arthritis"^^xsd:string) AnnotationAssertion( "Spondylarthritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000380"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 12p Partial Deletion) AnnotationAssertion( "MESH:C538302"^^xsd:string) AnnotationAssertion( "RDO:0004264"^^xsd:string) AnnotationAssertion( "12p monosomy, partial"^^xsd:string) AnnotationAssertion( "Deletion 12p12 p11"^^xsd:string) AnnotationAssertion( "Deletion 12p13"^^xsd:string) AnnotationAssertion( "Monosomy 12p11"^^xsd:string) AnnotationAssertion( "Monosomy 12p13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000381"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 12p Partial Deletion"^^xsd:string) SubClassOf( ) # Class: (Myopia 27) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-30T10:36:12Z"^^xsd:string) AnnotationAssertion( "MIM:618827"^^xsd:string) AnnotationAssertion( "MYP27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000382"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 27"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat Syndrome 6) AnnotationAssertion(Annotation( "MIM:618347"^^xsd:string) "Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with Galloway-Mowat syndrome-6 (GAMOS6) also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported. GAMOS6 is caused by homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-12T11:44:41Z"^^xsd:string) AnnotationAssertion( "WDR4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618347"^^xsd:string) AnnotationAssertion( "GAMOS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000383"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Asymptomatic Infections) AnnotationAssertion(Annotation( "MESH:D058345"^^xsd:string) "Infections that do not exhibit symptoms."^^xsd:string) AnnotationAssertion( "MESH:D058345"^^xsd:string) AnnotationAssertion( "Asymptomatic Infection"^^xsd:string) AnnotationAssertion( "Subclinical Infection"^^xsd:string) AnnotationAssertion( "Subclinical Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000384"^^xsd:string) AnnotationAssertion(rdfs:label "Asymptomatic Infections"^^xsd:string) SubClassOf( ) # Class: (Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation) AnnotationAssertion( "MIM:602564"^^xsd:string) AnnotationAssertion( "MESH:C566519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000385"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Polyomavirus Infections) AnnotationAssertion(Annotation( "MESH:D027601"^^xsd:string) "Infections with POLYOMAVIRUS, which are often cultured from the urine of kidney transplant patients. Excretion of BK VIRUS is associated with ureteral strictures and CYSTITIS, and that of JC VIRUS with progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL)."^^xsd:string) AnnotationAssertion( "EFO:0007451"^^xsd:string) AnnotationAssertion( "MESH:D027601"^^xsd:string) AnnotationAssertion( "MONDO:0005927"^^xsd:string) AnnotationAssertion( "Polyomavirus Infection"^^xsd:string) AnnotationAssertion( "Polyomavirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000386"^^xsd:string) AnnotationAssertion(rdfs:label "Polyomavirus Infections"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS) AnnotationAssertion(Annotation( "MIM:619685"^^xsd:string) "This disease is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis. Affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-22T15:47:13Z"^^xsd:string) AnnotationAssertion( "MIM:619685"^^xsd:string) AnnotationAssertion( "NEDMSC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000387"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BOCKENHEIMER SYNDROME) AnnotationAssertion(Annotation( "ORPHA:217008"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/13063/genuine-diffuse-phlebectasia"^^xsd:string) "This is a very rare condition characterized by extensive, circumscribed venous malformations (phlebectasias) involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It may occur on one or both sides."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-03T11:35:08Z"^^xsd:string) AnnotationAssertion( "ORPHA:217008"^^xsd:string) AnnotationAssertion( "genuine diffuse phlebectasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000388"^^xsd:string) AnnotationAssertion(rdfs:label "BOCKENHEIMER SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blepharophimosis with Facial and Genital Anomalies and Mental Retardation) AnnotationAssertion( "MIM:604314"^^xsd:string) AnnotationAssertion( "MESH:C565797"^^xsd:string) AnnotationAssertion( "BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000389"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharophimosis with Facial and Genital Anomalies and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ophthalmoplegia Totalis with Ptosis and Miosis) AnnotationAssertion( "MIM:258400"^^xsd:string) AnnotationAssertion( "MESH:C564927"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000390"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmoplegia Totalis with Ptosis and Miosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Calcific Aortic Disease with Immunologic Abnormalities, Familial) AnnotationAssertion( "MIM:114065"^^xsd:string) AnnotationAssertion( "MESH:C566182"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000391"^^xsd:string) AnnotationAssertion(rdfs:label "Calcific Aortic Disease with Immunologic Abnormalities, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fluoride Poisoning) AnnotationAssertion(Annotation( "MESH:D005458"^^xsd:string) "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of FLUORIDE compounds."^^xsd:string) AnnotationAssertion( "EFO:1001328"^^xsd:string) AnnotationAssertion( "MESH:D005458"^^xsd:string) AnnotationAssertion( "Fluoride Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000392"^^xsd:string) AnnotationAssertion(rdfs:label "Fluoride Poisoning"^^xsd:string) SubClassOf( ) # Class: (Platelet Alpha/Delta Storage Pool Deficiency) AnnotationAssertion( "MESH:C566794"^^xsd:string) AnnotationAssertion( "RDO:0015040"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000393"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Alpha/Delta Storage Pool Deficiency"^^xsd:string) SubClassOf( ) # Class: (Adenomyoepithelioma) AnnotationAssertion( "A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures."^^xsd:string) AnnotationAssertion( "MESH:D055331"^^xsd:string) AnnotationAssertion( "Adenomyoepitheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000394"^^xsd:string) AnnotationAssertion(rdfs:label "Adenomyoepithelioma"^^xsd:string) SubClassOf( ) # Class: (Ascaridida Infections) AnnotationAssertion(Annotation( "MESH:D017191"^^xsd:string) "Infections with nematodes of the order ASCARIDIDA."^^xsd:string) AnnotationAssertion( "EFO:0007156"^^xsd:string) AnnotationAssertion( "MESH:D017191"^^xsd:string) AnnotationAssertion( "Ascaridida Infection"^^xsd:string) AnnotationAssertion( "Ascaridida infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000395"^^xsd:string) AnnotationAssertion(rdfs:label "Ascaridida Infections"^^xsd:string) SubClassOf( ) # Class: (Tetramelic Postaxial Oligodactyly) AnnotationAssertion( "MIM:176240"^^xsd:string) AnnotationAssertion( "MESH:C566767"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000396"^^xsd:string) AnnotationAssertion(rdfs:label "Tetramelic Postaxial Oligodactyly"^^xsd:string) SubClassOf( ) # Class: (Genetic Predisposition to Disease) AnnotationAssertion(Annotation( "MESH:D020022"^^xsd:string) "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions."^^xsd:string) AnnotationAssertion( "MESH:D020022"^^xsd:string) AnnotationAssertion( "Genetic Predisposition"^^xsd:string) AnnotationAssertion( "Genetic Predispositions"^^xsd:string) AnnotationAssertion( "Genetic Susceptibilities"^^xsd:string) AnnotationAssertion( "Genetic Susceptibility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000397"^^xsd:string) AnnotationAssertion(rdfs:label "Genetic Predisposition to Disease"^^xsd:string) SubClassOf( ) # Class: (Powell Chandra Saal Syndrome) AnnotationAssertion( "MIM:261575"^^xsd:string) AnnotationAssertion( "MESH:C538357"^^xsd:string) AnnotationAssertion( "PHAVER syndrome"^^xsd:string) AnnotationAssertion( "Vertebral, radial, congenital heart, and ear defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000398"^^xsd:string) AnnotationAssertion(rdfs:label "Powell Chandra Saal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Baraitser Rodeck Garner syndrome) AnnotationAssertion( "MESH:C537906"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000399"^^xsd:string) AnnotationAssertion(rdfs:label "Baraitser Rodeck Garner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Beardwell Syndrome) AnnotationAssertion( "MESH:C537665"^^xsd:string) AnnotationAssertion( "Familial ankylosing vertebral hyperostosis with tylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000400"^^xsd:string) AnnotationAssertion(rdfs:label "Beardwell Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alternariosis) AnnotationAssertion(Annotation( "MESH:D060487"^^xsd:string) "Opportunistic fungal infection by a member of ALTERNARIA genus."^^xsd:string) AnnotationAssertion( "EFO:1001262"^^xsd:string) AnnotationAssertion( "MESH:D060487"^^xsd:string) AnnotationAssertion( "MONDO:0044083"^^xsd:string) AnnotationAssertion( "Cutaneous Alternariosis"^^xsd:string) AnnotationAssertion( "Dermal Alternarioses"^^xsd:string) AnnotationAssertion( "Dermal Alternariosis"^^xsd:string) AnnotationAssertion( "alternarioses"^^xsd:string) AnnotationAssertion( "cutaneous alternarioses"^^xsd:string) AnnotationAssertion( "subcutaneous alternarioses"^^xsd:string) AnnotationAssertion( "subcutaneous alternariosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000401"^^xsd:string) AnnotationAssertion(rdfs:label "Alternariosis"^^xsd:string) SubClassOf( ) # Class: (Bryant-Li-Bhoj Neurodevelopmental Syndrome 2) AnnotationAssertion(Annotation( "MIM:619721"^^xsd:string) "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3B gene on chromosome 17q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-10T13:36:16Z"^^xsd:string) AnnotationAssertion( "MIM:619721"^^xsd:string) AnnotationAssertion( "BRYLIB2"^^xsd:string) AnnotationAssertion( "H3-3B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000402"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj Neurodevelopmental Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Animal Mammary Neoplasms) AnnotationAssertion(Annotation( "MESH:D015674"^^xsd:string) "Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL)."^^xsd:string) AnnotationAssertion( "MESH:D015674"^^xsd:string) AnnotationAssertion( "animal mammary neoplasm"^^xsd:string) AnnotationAssertion( "mammary neoplasm"^^xsd:string) AnnotationAssertion( "mammary neoplasms"^^xsd:string) AnnotationAssertion( "animal mammary carcinoma"^^xsd:string) AnnotationAssertion( "animal mammary carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000403"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Mammary Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemobilia) AnnotationAssertion(Annotation( "MESH:D006431"^^xsd:string) "Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms."^^xsd:string) AnnotationAssertion( "MESH:D006431"^^xsd:string) AnnotationAssertion( "Biliary Tract Hemorrhage"^^xsd:string) AnnotationAssertion( "Biliary Tract Hemorrhages"^^xsd:string) AnnotationAssertion( "Hemobilias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000404"^^xsd:string) AnnotationAssertion(rdfs:label "Hemobilia"^^xsd:string) SubClassOf( ) # Class: (Echo Virus 11 Sensitivity) AnnotationAssertion( "MIM:129150"^^xsd:string) AnnotationAssertion( "MESH:C565071"^^xsd:string) AnnotationAssertion( "RDO:0013812"^^xsd:string) AnnotationAssertion( "E11S"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000405"^^xsd:string) AnnotationAssertion(rdfs:label "Echo Virus 11 Sensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eosinophilic Asthma) AnnotationAssertion( "A severe type of asthma featuring elevated sputum and/or blood eosinophils."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001237"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000406"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Asthma"^^xsd:string) SubClassOf( ) # Class: (Wegener-Like Granulomatosis) AnnotationAssertion( "MESH:C566810"^^xsd:string) AnnotationAssertion( "RDO:0015052"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000407"^^xsd:string) AnnotationAssertion(rdfs:label "Wegener-Like Granulomatosis"^^xsd:string) SubClassOf( ) # Class: (Porokeratosis 3, Multiple Types) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK3) are caused by heterozygous mutation in the MVK gene on chromosome 12q24. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:175900"^^xsd:string) AnnotationAssertion( "MESH:C536339"^^xsd:string) AnnotationAssertion( "DSAP1"^^xsd:string) AnnotationAssertion( "POROK3"^^xsd:string) AnnotationAssertion( "disseminated superficial actinic porokeratosis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000408"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 3, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (Lopes-Maciel-Rodan Syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001710"^^xsd:string) AnnotationAssertion( "EFO:0009904"^^xsd:string) AnnotationAssertion( "MIM:617435"^^xsd:string) AnnotationAssertion( "LOMARS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000409"^^xsd:string) AnnotationAssertion(rdfs:label "Lopes-Maciel-Rodan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula) AnnotationAssertion( "MIM:609345"^^xsd:string) AnnotationAssertion( "MESH:C563731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000410"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Porokeratosis 7, Multiple Types) AnnotationAssertion( "A rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK7) are caused by heterozygous mutation in the MVD gene on chromosome 16q24. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614714"^^xsd:string) AnnotationAssertion( "POROK7"^^xsd:string) AnnotationAssertion( "multiple types of porokeratosis 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000411"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 7, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (Presenile and Senile Dementia) AnnotationAssertion( "MESH:C563254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000412"^^xsd:string) AnnotationAssertion(rdfs:label "Presenile and Senile Dementia"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 4, Intermediate) AnnotationAssertion(Annotation( "MIM:619787"^^xsd:string) "An autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Caused by homozygous or compound heterozygous mutation in the COL17A1 gene on chromosome 10q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:25:02Z"^^xsd:string) AnnotationAssertion( "COL17A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619787"^^xsd:string) AnnotationAssertion( "GABEB"^^xsd:string) AnnotationAssertion( "JEB4"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 4, Non-Herlitz Type"^^xsd:string) AnnotationAssertion( "generalized atrophic benign epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa, localisata variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000413"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 4, Intermediate"^^xsd:string) SubClassOf( ) # Class: (Horner Syndrome, Congenital) AnnotationAssertion( "MESH:C564178"^^xsd:string) AnnotationAssertion( "RDO:0013222"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000414"^^xsd:string) AnnotationAssertion(rdfs:label "Horner Syndrome, Congenital"^^xsd:string) SubClassOf( ) # Class: (Hemothorax) AnnotationAssertion(Annotation( "MESH:D006491"^^xsd:string) "Hemorrhage within the pleural cavity."^^xsd:string) AnnotationAssertion( "MESH:D006491"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000415"^^xsd:string) AnnotationAssertion(rdfs:label "Hemothorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ectodermal Dysplasia-Syndactyly Syndrome 2) AnnotationAssertion( "MIM:613576"^^xsd:string) AnnotationAssertion( "EDSS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000416"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia-Syndactyly Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, P) AnnotationAssertion( "A hereditary, autosomal dominant form of glaucoma that is characterized by cupping of the optic nerve head and visual field defects but no increase in intraocular pressure. It primarily affects younger patients and is associated with a 300 kb duplication in the q region of chromosome 12 (12q14) (MESH)"^^xsd:string) AnnotationAssertion( "MESH:C566748"^^xsd:string) AnnotationAssertion( "MIM:177700"^^xsd:string) AnnotationAssertion( "MONDO:0008328"^^xsd:string) AnnotationAssertion( "GLC1P"^^xsd:string) AnnotationAssertion( "pseudoglaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000417"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, P"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart-hand syndrome type 3) AnnotationAssertion( "GARD:2614"^^xsd:string) AnnotationAssertion( "MESH:C535853"^^xsd:string) AnnotationAssertion( "MIM:140450"^^xsd:string) AnnotationAssertion( "MONDO:0007702"^^xsd:string) AnnotationAssertion( "ORDO:1342"^^xsd:string) AnnotationAssertion( "atriodigital dysplasia type 3"^^xsd:string) AnnotationAssertion( "brachydactyly and intraventricular conduction defect"^^xsd:string) AnnotationAssertion( "cardiomelic syndrome type 3"^^xsd:string) AnnotationAssertion( "heart-hand syndrome, Spanish Type"^^xsd:string) AnnotationAssertion( "heart-limb syndrome type 3"^^xsd:string) AnnotationAssertion( "upper limb malformations and congenital cardiac anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000418"^^xsd:string) AnnotationAssertion(rdfs:label "heart-hand syndrome type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Familial Neonatal Seizures, 1) AnnotationAssertion( "MIM:121200"^^xsd:string) AnnotationAssertion( "RDO:0015728"^^xsd:string) AnnotationAssertion( "RDO:0015787"^^xsd:string) AnnotationAssertion( "KCNQ2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567744"^^xsd:string) AnnotationAssertion( "BFNS1"^^xsd:string) AnnotationAssertion( "SEIZURES, BENIGN FAMILIAL NEONATAL, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Benign Familial Neonatal Convulsions 1, and/or Myokymia"^^xsd:string) AnnotationAssertion( "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME"^^xsd:string) AnnotationAssertion( "EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA"^^xsd:string) AnnotationAssertion( "benign familial neonatal seizures 1, and/or myokymia"^^xsd:string) AnnotationAssertion( "DOID:9000419"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Neonatal Seizures, 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis) AnnotationAssertion( "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618363"^^xsd:string) AnnotationAssertion( "SSASKS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000420"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Erosive Arthropathy) AnnotationAssertion( "MIM:605935"^^xsd:string) AnnotationAssertion( "MESH:C565273"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000421"^^xsd:string) AnnotationAssertion(rdfs:label "Erosive Arthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Hepatitis D) AnnotationAssertion(Annotation( "MESH:D019701"^^xsd:string) "INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS in conjunction with HEPATITIS B VIRUS and lasting six months or more."^^xsd:string) AnnotationAssertion( "MESH:D019701"^^xsd:string) AnnotationAssertion( "chronic delta hepatitides"^^xsd:string) AnnotationAssertion( "chronic delta hepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000422"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Hepatitis D"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aspermia) AnnotationAssertion(Annotation( "MESH:D053714"^^xsd:string) "A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen."^^xsd:string) AnnotationAssertion( "MESH:D053714"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000423"^^xsd:string) AnnotationAssertion(rdfs:label "Aspermia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fronto-Facio-Nasal Dysplasia) AnnotationAssertion( "MIM:229400"^^xsd:string) AnnotationAssertion( "MESH:C538063"^^xsd:string) AnnotationAssertion( "Fronto-facio-nasal dysostosis"^^xsd:string) AnnotationAssertion( "Frontofacionasal Dysostosis"^^xsd:string) AnnotationAssertion( "Frontofacionasal Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000425"^^xsd:string) AnnotationAssertion(rdfs:label "Fronto-Facio-Nasal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (XYY Karyotype) AnnotationAssertion(Annotation( "MESH:D014997"^^xsd:string) "Abnormal genetic constitution in males characterized by an extra Y chromosome."^^xsd:string) AnnotationAssertion( "MESH:D014997"^^xsd:string) AnnotationAssertion( "XYY Karyotypes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000426"^^xsd:string) AnnotationAssertion(rdfs:label "XYY Karyotype"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation) AnnotationAssertion( "MESH:C537424"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000427"^^xsd:string) AnnotationAssertion(rdfs:label "Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 7) AnnotationAssertion( "MIM:610321"^^xsd:string) AnnotationAssertion( "MESH:C565201"^^xsd:string) AnnotationAssertion( "HPC7"^^xsd:string) AnnotationAssertion( "Prostate Cancer Aggressiveness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000428"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 7"^^xsd:string) SubClassOf( ) # Class: (Nuclear Type Mitochondrial Complex I Deficiency 37) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-16T13:14:00Z"^^xsd:string) AnnotationAssertion( "MIM:619272"^^xsd:string) AnnotationAssertion( "MC1DN37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000429"^^xsd:string) AnnotationAssertion(rdfs:label "Nuclear Type Mitochondrial Complex I Deficiency 37"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Platelet-Type Bleeding Disorder 24) AnnotationAssertion(Annotation( "MIM:619271"^^xsd:string) "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. Caused by heterozygous mutation in the ITGA3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-14T14:31:01Z"^^xsd:string) AnnotationAssertion( "MIM:619271"^^xsd:string) AnnotationAssertion( "BDPLT24"^^xsd:string) AnnotationAssertion( "Glanzmann thrombasthenia-like with macrothrombocytopenia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000430"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Type Bleeding Disorder 24"^^xsd:string) SubClassOf( ) # Class: (Mannose-Binding Protein Deficiency) AnnotationAssertion( "MIM:614372"^^xsd:string) AnnotationAssertion( "MESH:C563602"^^xsd:string) AnnotationAssertion( "LCAPD1"^^xsd:string) AnnotationAssertion( "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1"^^xsd:string) AnnotationAssertion( "MBL Deficiency"^^xsd:string) AnnotationAssertion( "MBL2 Deficiency"^^xsd:string) AnnotationAssertion( "MBLD"^^xsd:string) AnnotationAssertion( "MBP Deficiency"^^xsd:string) AnnotationAssertion( "Mannose-Binding Lectin Deficiency"^^xsd:string) AnnotationAssertion( "Mannose-Binding Lectin Protein Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000431"^^xsd:string) AnnotationAssertion(rdfs:label "Mannose-Binding Protein Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Geniospasm) AnnotationAssertion( "MIM:190100"^^xsd:string) AnnotationAssertion( "MESH:C537682"^^xsd:string) AnnotationAssertion( "GSM1"^^xsd:string) AnnotationAssertion( "Geniospasm 1"^^xsd:string) AnnotationAssertion( "Hereditary geniospasm"^^xsd:string) AnnotationAssertion( "Trembling chin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000432"^^xsd:string) AnnotationAssertion(rdfs:label "Geniospasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Copper Toxicosis) AnnotationAssertion( "MESH:C565846"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000433"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Copper Toxicosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ray Peterson Scott Syndrome) AnnotationAssertion( "MESH:C535292"^^xsd:string) AnnotationAssertion( "RDO:0000315"^^xsd:string) AnnotationAssertion( "Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities"^^xsd:string) AnnotationAssertion( "Pelvic hypoplasia, and arthrogrypotic changes in the lower limbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000434"^^xsd:string) AnnotationAssertion(rdfs:label "Ray Peterson Scott Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears) AnnotationAssertion( "MIM:278200"^^xsd:string) AnnotationAssertion( "MESH:C536746"^^xsd:string) AnnotationAssertion( "Salamon Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000435"^^xsd:string) AnnotationAssertion(rdfs:label "Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urofacial Syndrome 2) AnnotationAssertion( "MIM:615112"^^xsd:string) AnnotationAssertion( "UFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000436"^^xsd:string) AnnotationAssertion(rdfs:label "Urofacial Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Astley-Kendall Syndrome) AnnotationAssertion( "MESH:C535392"^^xsd:string) AnnotationAssertion( "RDO:0000488"^^xsd:string) AnnotationAssertion( "Astley-Kendall dysplasia"^^xsd:string) AnnotationAssertion( "Short limbed dwarfism with extensive stippling"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000437"^^xsd:string) AnnotationAssertion(rdfs:label "Astley-Kendall Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Subarachnoid Hemorrhage) AnnotationAssertion(Annotation( "MESH:D013345"^^xsd:string) "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status."^^xsd:string) AnnotationAssertion( "EFO:0000713"^^xsd:string) AnnotationAssertion( "MESH:D013345"^^xsd:string) AnnotationAssertion( "NCI:C50757"^^xsd:string) AnnotationAssertion( "Aneurysmal Subarachnoid Hemorrhage"^^xsd:string) AnnotationAssertion( "Aneurysmal Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "Intracranial Subarachnoid Hemorrhage"^^xsd:string) AnnotationAssertion( "Intracranial Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "Perinatal Subarachnoid Hemorrhage"^^xsd:string) AnnotationAssertion( "Perinatal Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "SAH (Subarachnoid Hemorrhage)"^^xsd:string) AnnotationAssertion( "SAHs (Subarachnoid Hemorrhage)"^^xsd:string) AnnotationAssertion( "Spontaneous Subarachnoid Hemorrhage"^^xsd:string) AnnotationAssertion( "Spontaneous Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000438"^^xsd:string) AnnotationAssertion(rdfs:label "Subarachnoid Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Schizophrenia Spectrum and Other Psychotic Disorders) AnnotationAssertion(Annotation( "MESH:D019967"^^xsd:string) "Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5)"^^xsd:string) AnnotationAssertion( "MESH:D019967"^^xsd:string) AnnotationAssertion( "RDO:0005104"^^xsd:string) AnnotationAssertion( "Schizophrenia and Disorders with Psychotic Features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000439"^^xsd:string) AnnotationAssertion(rdfs:label "Schizophrenia Spectrum and Other Psychotic Disorders"^^xsd:string) SubClassOf( ) # Class: (Dens in Dente) AnnotationAssertion(Annotation( "MESH:D003719"^^xsd:string) "Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge."^^xsd:string) AnnotationAssertion( "MESH:D003719"^^xsd:string) AnnotationAssertion( "Dens in Dentes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000440"^^xsd:string) AnnotationAssertion(rdfs:label "Dens in Dente"^^xsd:string) SubClassOf( ) # Class: (Butyrylcholinesterase Deficiency) AnnotationAssertion( "MIM:617936"^^xsd:string) AnnotationAssertion( "MESH:C537417"^^xsd:string) AnnotationAssertion( "Cholinesterase 2 Deficiency"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF BUTYRYLCHOLINE ESTERASE"^^xsd:string) AnnotationAssertion( "Pseudocholinesterase E1 deficiency"^^xsd:string) AnnotationAssertion( "Pseudocholinesterase deficiency"^^xsd:string) AnnotationAssertion( "acylcholine acylhydrolase deficiency"^^xsd:string) AnnotationAssertion( "postanesthetic apnea"^^xsd:string) AnnotationAssertion( "succinylcholine sensitivity"^^xsd:string) AnnotationAssertion( "suxamethonium sensitivity"^^xsd:string) AnnotationAssertion( "BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BCHE QUANTITATIVE H VARIANT"^^xsd:string) AnnotationAssertion( "BCHE*FS126"^^xsd:string) AnnotationAssertion( "BCHE, Dibucaine-Resistant I"^^xsd:string) AnnotationAssertion( "BCHE, H VARIANT"^^xsd:string) AnnotationAssertion( "BCHE, J VARIANT"^^xsd:string) AnnotationAssertion( "DOID:9000441"^^xsd:string) AnnotationAssertion(rdfs:label "Butyrylcholinesterase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 10) AnnotationAssertion( "MIM:617168"^^xsd:string) AnnotationAssertion( "AAT10"^^xsd:string) AnnotationAssertion( "AORTIC ANEURYSM, FAMILIAL THORACIC 10"^^xsd:string) AnnotationAssertion( "LOX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LOX-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "LOX-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "thoracic aortic aneurysm with or without aortic dissection"^^xsd:string) AnnotationAssertion( "thoracic aortic aneurysm-10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000442"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 10"^^xsd:string) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Autism and Macrocephaly) AnnotationAssertion(Annotation( "MIM:615032"^^xsd:string) "Characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Caused by heterozygous mutation in the CHD8 gene on chromosome 14q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-11T16:09:15Z"^^xsd:string) AnnotationAssertion( "MIM:615032"^^xsd:string) AnnotationAssertion( "AUTS18"^^xsd:string) AnnotationAssertion( "CHD8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IDDAM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 18"^^xsd:string) AnnotationAssertion( "DOID:9000443"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Autism and Macrocephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Azotemia) AnnotationAssertion(Annotation( "MESH:D053099"^^xsd:string) "A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA."^^xsd:string) AnnotationAssertion( "MESH:D053099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000445"^^xsd:string) AnnotationAssertion(rdfs:label "Azotemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Systemic Autoinflammatory Disease with Vasculitis) AnnotationAssertion(Annotation( "MIM:620376"^^xsd:string) "An autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP). Caused by heterozygous mutation in the LYN gene on chromosome 8q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T14:58:18Z"^^xsd:string) AnnotationAssertion( "MIM:620376"^^xsd:string) AnnotationAssertion( "LAVLI syndrome"^^xsd:string) AnnotationAssertion( "LYN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SAIDV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000447"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Autoinflammatory Disease with Vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlipidemia, Combined, 2) AnnotationAssertion( "MIM:604499"^^xsd:string) AnnotationAssertion( "MESH:C565766"^^xsd:string) AnnotationAssertion( "FCHL2"^^xsd:string) AnnotationAssertion( "HYPLIP2"^^xsd:string) AnnotationAssertion( "Hyperlipidemia, Familial Combined, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000448"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipidemia, Combined, 2"^^xsd:string) SubClassOf( ) # Class: (Foix-Chavany-Marie Syndrome) AnnotationAssertion( "GARD:2351"^^xsd:string) AnnotationAssertion( "MESH:C537069"^^xsd:string) AnnotationAssertion( "MONDO:0023171"^^xsd:string) AnnotationAssertion( "ORDO:2048"^^xsd:string) AnnotationAssertion( "Facio-Labio-Pharyngo-Glosso-Laryngo-Brachial Paralysis"^^xsd:string) AnnotationAssertion( "Facio-Pharyngo-Glossal Diplegia with Automatic-Voluntary Movement Dissociation"^^xsd:string) AnnotationAssertion( "anterior opercular syndrome"^^xsd:string) AnnotationAssertion( "bilateral anterior opercular syndrome"^^xsd:string) AnnotationAssertion( "congenital Foix-Chavany-Marie syndrome"^^xsd:string) AnnotationAssertion( "pseudobulbar paralysis, cortical type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000449"^^xsd:string) AnnotationAssertion(rdfs:label "Foix-Chavany-Marie Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Daish Hardman Lamont Syndrome) AnnotationAssertion( "MIM:236660"^^xsd:string) AnnotationAssertion( "MESH:C535770"^^xsd:string) AnnotationAssertion( "Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000450"^^xsd:string) AnnotationAssertion(rdfs:label "Daish Hardman Lamont Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Body Remains) AnnotationAssertion(Annotation( "MESH:D000071298"^^xsd:string) "The physical entity of a deceased human or animal."^^xsd:string) AnnotationAssertion( "MESH:D000071298"^^xsd:string) AnnotationAssertion( "Animal Remains"^^xsd:string) AnnotationAssertion( "Human Remains"^^xsd:string) AnnotationAssertion( "Skeletal Remains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000451"^^xsd:string) AnnotationAssertion(rdfs:label "Body Remains"^^xsd:string) SubClassOf( ) # Class: (Piriformis Muscle Syndrome) AnnotationAssertion(Annotation( "MESH:D055958"^^xsd:string) "A chronic PELVIC PAIN characterized by pain deep in the buttock that may radiate to posterior aspects of the leg. It is caused by the piriformis muscle compressing or irritating the SCIATIC NERVE due to trauma, hypertrophy, inflammation or anatomic variations."^^xsd:string) AnnotationAssertion( "MESH:D055958"^^xsd:string) AnnotationAssertion( "Piriformis Muscle Syndromes"^^xsd:string) AnnotationAssertion( "Piriformis syndrome"^^xsd:string) AnnotationAssertion( "Piriformis syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000452"^^xsd:string) AnnotationAssertion(rdfs:label "Piriformis Muscle Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3 Duplication Syndrome) AnnotationAssertion( "MESH:C536803"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000453"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3 Duplication Syndrome"^^xsd:string) SubClassOf( ) # Class: (Methylmalonyl-CoA Epimerase Deficiency) AnnotationAssertion( "MIM:251120"^^xsd:string) AnnotationAssertion( "MESH:C565386"^^xsd:string) AnnotationAssertion( "Methylmalonyl-CoA Racemase Deficiency"^^xsd:string) AnnotationAssertion( "METHYLMALONIC ACIDURIA III"^^xsd:string) AnnotationAssertion( "METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000454"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonyl-CoA Epimerase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Mousa Al din Al Nassar Syndrome) AnnotationAssertion( "MIM:271320"^^xsd:string) AnnotationAssertion( "MESH:C536989"^^xsd:string) AnnotationAssertion( "Bedouin spastic ataxia syndrome"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000455"^^xsd:string) AnnotationAssertion(rdfs:label "Mousa Al din Al Nassar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dysgeusia) AnnotationAssertion(Annotation( "MESH:D004408"^^xsd:string) "A condition characterized by alterations of the sense of taste which may range from mild to severe, including gross distortions of taste quality."^^xsd:string) AnnotationAssertion( "MESH:D004408"^^xsd:string) AnnotationAssertion( "Altered Taste"^^xsd:string) AnnotationAssertion( "Distorted Taste"^^xsd:string) AnnotationAssertion( "Dysgeusias"^^xsd:string) AnnotationAssertion( "Parageusia"^^xsd:string) AnnotationAssertion( "Parageusias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000456"^^xsd:string) AnnotationAssertion(rdfs:label "Dysgeusia"^^xsd:string) SubClassOf( ) # Class: (Germ Cell and Embryonal Neoplasms) AnnotationAssertion(Annotation( "MESH:D009373"^^xsd:string) "Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS."^^xsd:string) AnnotationAssertion( "MESH:D009373"^^xsd:string) AnnotationAssertion( "Germ Cell and Embryonic Neoplasms"^^xsd:string) AnnotationAssertion( "Neoplasms, Embryonal and Mixed"^^xsd:string) AnnotationAssertion( "germ cell and embryonal neoplasm"^^xsd:string) AnnotationAssertion( "Embryonal Neoplasms"^^xsd:string) AnnotationAssertion( "Germ Cell Neoplasms"^^xsd:string) AnnotationAssertion( "Germ Cell Tumor"^^xsd:string) AnnotationAssertion( "Germ Cell Tumors"^^xsd:string) AnnotationAssertion( "embryo neoplasm"^^xsd:string) AnnotationAssertion( "embryonal neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "CSP2005:2016-0850"^^xsd:string) "germ cell neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:28307001"^^xsd:string) "germ cell tumour"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000457"^^xsd:string) AnnotationAssertion(rdfs:label "Germ Cell and Embryonal Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Rickettsiaceae Infections) AnnotationAssertion(Annotation( "MESH:D012288"^^xsd:string) "Infections with bacteria of the family RICKETTSIACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001128"^^xsd:string) AnnotationAssertion( "MESH:D012288"^^xsd:string) AnnotationAssertion( "Rickettsiaceae Infection"^^xsd:string) AnnotationAssertion( "Rickettsialpox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000458"^^xsd:string) AnnotationAssertion(rdfs:label "Rickettsiaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Acholinesterasemia) AnnotationAssertion( "MESH:C566750"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000459"^^xsd:string) AnnotationAssertion(rdfs:label "Acholinesterasemia"^^xsd:string) SubClassOf( ) # Class: (Diaphragmatic Hernia 3) AnnotationAssertion( "MIM:610187"^^xsd:string) AnnotationAssertion( "MESH:C565710"^^xsd:string) AnnotationAssertion( "DIH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000460"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia 3"^^xsd:string) SubClassOf( ) # Class: (Hutchinson's Melanotic Freckle) AnnotationAssertion(Annotation( "MESH:D018327"^^xsd:string) "A cellular subtype of malignant melanoma. It is a pigmented lesion composed of melanocytes occurring on sun-exposed skin, usually the face and neck. The melanocytes are commonly multinucleated with a 'starburst' appearance. It is considered by many to be the in situ phase of lentigo maligna melanoma."^^xsd:string) AnnotationAssertion( "MESH:D018327"^^xsd:string) AnnotationAssertion( "RDO:0007185"^^xsd:string) AnnotationAssertion( "Hutchinson Melanotic Freckle"^^xsd:string) AnnotationAssertion( "Hutchinsons Melanotic Freckle"^^xsd:string) AnnotationAssertion( "Lentigo Maligna"^^xsd:string) AnnotationAssertion( "Malignant Lentigo"^^xsd:string) AnnotationAssertion( "Malignant Lentigos"^^xsd:string) AnnotationAssertion( "Melanotic Freckle"^^xsd:string) AnnotationAssertion( "Melanotic Freckles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000461"^^xsd:string) AnnotationAssertion(rdfs:label "Hutchinson's Melanotic Freckle"^^xsd:string) SubClassOf( ) # Class: (Giant Axonal Neuropathy) AnnotationAssertion(Annotation( "MESH:D056768"^^xsd:string) "Rare disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS)."^^xsd:string) AnnotationAssertion( "RDO:0007756"^^xsd:string) AnnotationAssertion( "MESH:D056768"^^xsd:string) AnnotationAssertion( "MIM:PS256850"^^xsd:string) AnnotationAssertion( "NCI:C84728"^^xsd:string) AnnotationAssertion( "GAN"^^xsd:string) AnnotationAssertion( "Giant Axonal Neuropathy (GAN)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000462"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Axonal Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment) AnnotationAssertion(Annotation( "MIM:618480"^^xsd:string) "An autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-06T10:12:19Z"^^xsd:string) AnnotationAssertion( "MIM:618480"^^xsd:string) AnnotationAssertion( "DHPS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDSSWI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000463"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Desulfovibrionaceae Infections) AnnotationAssertion(Annotation( "MESH:D045824"^^xsd:string) "Infections with bacteria of the family Desulfovibrionaceae."^^xsd:string) AnnotationAssertion( "EFO:1000875"^^xsd:string) AnnotationAssertion( "MESH:D045824"^^xsd:string) AnnotationAssertion( "Bilophila Infection"^^xsd:string) AnnotationAssertion( "Bilophila Infections"^^xsd:string) AnnotationAssertion( "Desulfovibrio Infection"^^xsd:string) AnnotationAssertion( "Desulfovibrio Infections"^^xsd:string) AnnotationAssertion( "Desulfovibrionaceae Infection"^^xsd:string) AnnotationAssertion( "Lawsonia Infection"^^xsd:string) AnnotationAssertion( "Lawsonia Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000464"^^xsd:string) AnnotationAssertion(rdfs:label "Desulfovibrionaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Coinfection) AnnotationAssertion(Annotation( "MESH:D060085"^^xsd:string) "Simultaneous infection of a host organism by two or more pathogens. In virology, coinfection commonly refers to simultaneous infection of a single cell by two or more different viruses."^^xsd:string) AnnotationAssertion( "EFO:0010716"^^xsd:string) AnnotationAssertion( "MESH:D060085"^^xsd:string) AnnotationAssertion( "Co infection"^^xsd:string) AnnotationAssertion( "Coinfections"^^xsd:string) AnnotationAssertion( "Mixed Infection"^^xsd:string) AnnotationAssertion( "Mixed Infections"^^xsd:string) AnnotationAssertion( "Polymicrobial Infection"^^xsd:string) AnnotationAssertion( "Polymicrobial Infections"^^xsd:string) AnnotationAssertion( "Secondary Infection"^^xsd:string) AnnotationAssertion( "co-infections"^^xsd:string) AnnotationAssertion( "secondary infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000465"^^xsd:string) AnnotationAssertion(rdfs:label "Coinfection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Somatic) AnnotationAssertion( "Tumors or cancer of the prostate caused by somatic mutations."^^xsd:string) AnnotationAssertion( "RDO:9000712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000466"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Somatic"^^xsd:string) SubClassOf( ) # Class: (Marden-Walker Syndrome) AnnotationAssertion( "MIM:248700"^^xsd:string) AnnotationAssertion( "MESH:C535910"^^xsd:string) AnnotationAssertion( "Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly"^^xsd:string) AnnotationAssertion( "Connective Tissue Disorder, Marden-Walker Type"^^xsd:string) AnnotationAssertion( "Generalized connective tissue syndrome"^^xsd:string) AnnotationAssertion( "MWKS"^^xsd:string) AnnotationAssertion( "MWS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000467"^^xsd:string) AnnotationAssertion(rdfs:label "Marden-Walker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sucrosuria, Hiatus Hernia and Mental Retardation) AnnotationAssertion( "MIM:272000"^^xsd:string) AnnotationAssertion( "MESH:C564792"^^xsd:string) AnnotationAssertion( "SUCROSURIA, HIATUS HERNIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000468"^^xsd:string) AnnotationAssertion(rdfs:label "Sucrosuria, Hiatus Hernia and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Viral Myocarditis) AnnotationAssertion( "An uncommon inflammatory disorder of the myocardium caused by a virus."^^xsd:string) AnnotationAssertion( "VMC"^^xsd:string) AnnotationAssertion( "CVMC"^^xsd:string) AnnotationAssertion( "chronic viral myocarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000469"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Myocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Echogenic Bowel) AnnotationAssertion(Annotation( "MESH:D058535"^^xsd:string) "A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup."^^xsd:string) AnnotationAssertion( "MESH:D058535"^^xsd:string) AnnotationAssertion( "Echogenic Bowels"^^xsd:string) AnnotationAssertion( "Hyperechogenic Bowel"^^xsd:string) AnnotationAssertion( "Hyperechogenic Bowels"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000470"^^xsd:string) AnnotationAssertion(rdfs:label "Echogenic Bowel"^^xsd:string) SubClassOf( ) # Class: (Vibrio Vulnificus Infection) AnnotationAssertion( "MESH:C536348"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000471"^^xsd:string) AnnotationAssertion(rdfs:label "Vibrio Vulnificus Infection"^^xsd:string) SubClassOf( ) # Class: (Disproportionate Short Stature with Ptosis and Valvular Heart Lesions) AnnotationAssertion( "MIM:126190"^^xsd:string) AnnotationAssertion( "MESH:C565094"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000472"^^xsd:string) AnnotationAssertion(rdfs:label "Disproportionate Short Stature with Ptosis and Valvular Heart Lesions"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Visceral Neuropathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-11T07:50:51Z"^^xsd:string) AnnotationAssertion( "MIM:PS243180"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000473"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Visceral Neuropathy"^^xsd:string) SubClassOf( ) # Class: (Hashimoto's Encephalitis) AnnotationAssertion( "MESH:C535841"^^xsd:string) AnnotationAssertion( "Autoimmune encephalitis"^^xsd:string) AnnotationAssertion( "Hashimoto's encephalopathy"^^xsd:string) AnnotationAssertion( "Steroid-responsive encephalopathy associated with autoimmune thyroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000474"^^xsd:string) AnnotationAssertion(rdfs:label "Hashimoto's Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (REM Sleep Parasomnias) AnnotationAssertion(Annotation( "MESH:D020923"^^xsd:string) "Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER."^^xsd:string) AnnotationAssertion( "MESH:D020923"^^xsd:string) AnnotationAssertion( "REM Sleep Parasomnia"^^xsd:string) AnnotationAssertion( "REM Sleep Related Sinus Arrest"^^xsd:string) AnnotationAssertion( "Rapid Eye Movement Sleep Parasomnias"^^xsd:string) AnnotationAssertion( "Sleep Related Painful Erections"^^xsd:string) AnnotationAssertion( "Sleep-Related Painful Erection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000475"^^xsd:string) AnnotationAssertion(rdfs:label "REM Sleep Parasomnias"^^xsd:string) SubClassOf( ) # Class: (Acrootoocular Syndrome) AnnotationAssertion( "GARD:4559"^^xsd:string) AnnotationAssertion( "MESH:C564866"^^xsd:string) AnnotationAssertion( "MIM:264475"^^xsd:string) AnnotationAssertion( "MONDO:0009920"^^xsd:string) AnnotationAssertion( "ORDO:2980"^^xsd:string) AnnotationAssertion( "Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies"^^xsd:string) AnnotationAssertion( "pseudopapilledema-blepharophimosis-hand anomalies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000476"^^xsd:string) AnnotationAssertion(rdfs:label "Acrootoocular Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Endocrine Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014383"^^xsd:string) "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS."^^xsd:string) AnnotationAssertion( "RDO:0006761"^^xsd:string) AnnotationAssertion( "EFO:1000917"^^xsd:string) AnnotationAssertion( "MESH:D014383"^^xsd:string) AnnotationAssertion( "Endocrine Tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000477"^^xsd:string) AnnotationAssertion(rdfs:label "Endocrine Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, C) AnnotationAssertion( "MIM:601682"^^xsd:string) AnnotationAssertion( "MESH:C566641"^^xsd:string) AnnotationAssertion( "GLC1C"^^xsd:string) AnnotationAssertion( "primary open angle glaucoma 1, C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000478"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, C"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Muscular Atrophy with Microcephaly and Mental Subnormality) AnnotationAssertion( "MIM:271110"^^xsd:string) AnnotationAssertion( "MESH:C564806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000481"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy with Microcephaly and Mental Subnormality"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tarlov Cysts) AnnotationAssertion(Annotation( "MESH:D052958"^^xsd:string) "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself."^^xsd:string) AnnotationAssertion( "EFO:1001858"^^xsd:string) AnnotationAssertion( "MESH:D052958"^^xsd:string) AnnotationAssertion( "Perineural Cyst"^^xsd:string) AnnotationAssertion( "Perineural Cysts"^^xsd:string) AnnotationAssertion( "Perineurial Cyst"^^xsd:string) AnnotationAssertion( "Perineurial Cysts"^^xsd:string) AnnotationAssertion( "Sacral Perineural Cyst"^^xsd:string) AnnotationAssertion( "Sacral Perineural Cysts"^^xsd:string) AnnotationAssertion( "Sacral Tarlov Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000482"^^xsd:string) AnnotationAssertion(rdfs:label "Tarlov Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Angina Pectoris) AnnotationAssertion(Annotation( "MESH:D000787"^^xsd:string) "The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION."^^xsd:string) AnnotationAssertion( "EFO:0003913"^^xsd:string) AnnotationAssertion( "MESH:D000787"^^xsd:string) AnnotationAssertion( "Angor Pectoris"^^xsd:string) AnnotationAssertion( "Stenocardia"^^xsd:string) AnnotationAssertion( "Stenocardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000483"^^xsd:string) AnnotationAssertion(rdfs:label "Angina Pectoris"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Consciousness Disorders) AnnotationAssertion(Annotation( "MESH:D003244"^^xsd:string) "Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition."^^xsd:string) AnnotationAssertion( "MESH:D003244"^^xsd:string) AnnotationAssertion( "Altered Level of Consciousness"^^xsd:string) AnnotationAssertion( "Consciousness Disorder"^^xsd:string) AnnotationAssertion( "Consciousness, Level Altered"^^xsd:string) AnnotationAssertion( "Consciousness, Level Depressed"^^xsd:string) AnnotationAssertion( "Depressed Level of Consciousness"^^xsd:string) AnnotationAssertion( "Semiconsciousness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000484"^^xsd:string) AnnotationAssertion(rdfs:label "Consciousness Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Xq21 Deletion Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T13:27:20Z"^^xsd:string) AnnotationAssertion( "MIM:303110"^^xsd:string) AnnotationAssertion( "Xq21 deletion syndrome"^^xsd:string) AnnotationAssertion( "choroideremia, deafness, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000485"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq21 Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: (Nanophthalmos 1) AnnotationAssertion( "MIM:600165"^^xsd:string) AnnotationAssertion( "MESH:C563983"^^xsd:string) AnnotationAssertion( "Microphthalmos, Simple, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "NNO1"^^xsd:string) AnnotationAssertion( "Nanophthalmia 1"^^xsd:string) AnnotationAssertion( "Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma"^^xsd:string) AnnotationAssertion( "Nanophthalmos, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000486"^^xsd:string) AnnotationAssertion(rdfs:label "Nanophthalmos 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age) AnnotationAssertion( "MIM:602472"^^xsd:string) AnnotationAssertion( "MESH:C566543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000487"^^xsd:string) AnnotationAssertion(rdfs:label "Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progeria Syndrome, Childhood-Onset) AnnotationAssertion( "MESH:C567661"^^xsd:string) AnnotationAssertion( "Hutchinson-Gilford progeria syndrome, childhood-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000488"^^xsd:string) AnnotationAssertion(rdfs:label "Progeria Syndrome, Childhood-Onset"^^xsd:string) SubClassOf( ) # Class: (Diffuse Axonal Injury) AnnotationAssertion(Annotation( "MESH:D020833"^^xsd:string) "A relatively common sequela of blunt head injury, characterized by a global disruption of axons throughout the brain. Associated clinical features may include NEUROBEHAVIORAL MANIFESTATIONS; PERSISTENT VEGETATIVE STATE; DEMENTIA; and other disorders."^^xsd:string) AnnotationAssertion( "MESH:D020833"^^xsd:string) AnnotationAssertion( "DAI (Diffuse Axonal Injury)"^^xsd:string) AnnotationAssertion( "Diffuse Axonal Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000489"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Axonal Injury"^^xsd:string) SubClassOf( ) # Class: (Chromosome 18, Trisomy 18p) AnnotationAssertion( "MESH:C538307"^^xsd:string) AnnotationAssertion( "Duplication 18p"^^xsd:string) AnnotationAssertion( "Trisomy 18p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000490"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18, Trisomy 18p"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Isolated Hypoparathyroidism 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-15T11:15:51Z"^^xsd:string) AnnotationAssertion( "MIM:146200"^^xsd:string) AnnotationAssertion( "FIH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000492"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Isolated Hypoparathyroidism 1"^^xsd:string) SubClassOf( ) # Class: (Menke-Hennekam Syndrome 2) AnnotationAssertion( "Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-25T12:23:39Z"^^xsd:string) AnnotationAssertion( "EFO:0010253"^^xsd:string) AnnotationAssertion( "MIM:618333"^^xsd:string) AnnotationAssertion( "MKHK2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000493"^^xsd:string) AnnotationAssertion(rdfs:label "Menke-Hennekam Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Santos Mateus Leal Syndrome) AnnotationAssertion( "MESH:C537235"^^xsd:string) AnnotationAssertion( "Hirschsprung disease, deafness and polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000494"^^xsd:string) AnnotationAssertion(rdfs:label "Santos Mateus Leal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tremor) AnnotationAssertion(Annotation( "MESH:D014202"^^xsd:string) "Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."^^xsd:string) AnnotationAssertion( "MESH:D014202"^^xsd:string) AnnotationAssertion( "Action Tremor"^^xsd:string) AnnotationAssertion( "Action Tremors"^^xsd:string) AnnotationAssertion( "Coarse Tremor"^^xsd:string) AnnotationAssertion( "Coarse Tremors"^^xsd:string) AnnotationAssertion( "Continuous Tremor"^^xsd:string) AnnotationAssertion( "Continuous Tremors"^^xsd:string) AnnotationAssertion( "Darkness Tremor"^^xsd:string) AnnotationAssertion( "Darkness Tremors"^^xsd:string) AnnotationAssertion( "Fine Tremor"^^xsd:string) AnnotationAssertion( "Fine Tremors"^^xsd:string) AnnotationAssertion( "Intention Tremor"^^xsd:string) AnnotationAssertion( "Intention Tremors"^^xsd:string) AnnotationAssertion( "Intermittent Tremor"^^xsd:string) AnnotationAssertion( "Intermittent Tremors"^^xsd:string) AnnotationAssertion( "Involuntary Quiver"^^xsd:string) AnnotationAssertion( "Involuntary Quivers"^^xsd:string) AnnotationAssertion( "Limb Tremor"^^xsd:string) AnnotationAssertion( "Limb Tremors"^^xsd:string) AnnotationAssertion( "Massive Tremor"^^xsd:string) AnnotationAssertion( "Massive Tremors"^^xsd:string) AnnotationAssertion( "Muscle Tremor"^^xsd:string) AnnotationAssertion( "Muscle Tremors"^^xsd:string) AnnotationAssertion( "Neonatal Tremor"^^xsd:string) AnnotationAssertion( "Neonatal Tremors"^^xsd:string) AnnotationAssertion( "Nerve Tremor"^^xsd:string) AnnotationAssertion( "Nerve Tremors"^^xsd:string) AnnotationAssertion( "Passive Tremor"^^xsd:string) AnnotationAssertion( "Passive Tremors"^^xsd:string) AnnotationAssertion( "Perioral Tremor"^^xsd:string) AnnotationAssertion( "Perioral Tremors"^^xsd:string) AnnotationAssertion( "Persistent Tremor"^^xsd:string) AnnotationAssertion( "Persistent Tremors"^^xsd:string) AnnotationAssertion( "Pill Rolling Tremor"^^xsd:string) AnnotationAssertion( "Pill Rolling Tremors"^^xsd:string) AnnotationAssertion( "Rest Tremor"^^xsd:string) AnnotationAssertion( "Rest Tremors"^^xsd:string) AnnotationAssertion( "Resting Tremor"^^xsd:string) AnnotationAssertion( "Resting Tremors"^^xsd:string) AnnotationAssertion( "Saturnine Tremor"^^xsd:string) AnnotationAssertion( "Saturnine Tremors"^^xsd:string) AnnotationAssertion( "Semirhythmic Tremor"^^xsd:string) AnnotationAssertion( "Semirhythmic Tremors"^^xsd:string) AnnotationAssertion( "Senile Tremor"^^xsd:string) AnnotationAssertion( "Senile Tremors"^^xsd:string) AnnotationAssertion( "Static Tremor"^^xsd:string) AnnotationAssertion( "Static Tremors"^^xsd:string) AnnotationAssertion( "Tremors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000495"^^xsd:string) AnnotationAssertion(rdfs:label "Tremor"^^xsd:string) SubClassOf( ) # Class: (Illusions) AnnotationAssertion(Annotation( "MESH:D007088"^^xsd:string) "The misinterpretation of a real external, sensory experience."^^xsd:string) AnnotationAssertion( "MESH:D007088"^^xsd:string) AnnotationAssertion( "Auditory Illusion"^^xsd:string) AnnotationAssertion( "Auditory Illusions"^^xsd:string) AnnotationAssertion( "Autokinetic Effect"^^xsd:string) AnnotationAssertion( "Autokinetic Effects"^^xsd:string) AnnotationAssertion( "Autokinetic Illusion"^^xsd:string) AnnotationAssertion( "Autokinetic Illusions"^^xsd:string) AnnotationAssertion( "Illusion"^^xsd:string) AnnotationAssertion( "Kinesthetic Illusion"^^xsd:string) AnnotationAssertion( "Kinesthetic Illusions"^^xsd:string) AnnotationAssertion( "Tactile Illusion"^^xsd:string) AnnotationAssertion( "Tactile Illusions"^^xsd:string) AnnotationAssertion( "Visual Illusion"^^xsd:string) AnnotationAssertion( "Visual Illusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000496"^^xsd:string) AnnotationAssertion(rdfs:label "Illusions"^^xsd:string) SubClassOf( ) # Class: (Dilated Cardiomyopathy with Left Ventricular Noncompaction) AnnotationAssertion( "MESH:C565277"^^xsd:string) AnnotationAssertion( "Left ventricular noncompaction cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000497"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy with Left Ventricular Noncompaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Emaciation) AnnotationAssertion(Annotation( "MESH:D004614"^^xsd:string) "Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION)."^^xsd:string) AnnotationAssertion( "MESH:D004614"^^xsd:string) AnnotationAssertion( "Emaciations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000498"^^xsd:string) AnnotationAssertion(rdfs:label "Emaciation"^^xsd:string) SubClassOf( ) # Class: (Alcoholic Intoxication) AnnotationAssertion(Annotation( "MESH:D000435"^^xsd:string) "An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES."^^xsd:string) AnnotationAssertion( "MESH:D000435"^^xsd:string) AnnotationAssertion( "Drunkenness"^^xsd:string) AnnotationAssertion( "Drunkennesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000499"^^xsd:string) AnnotationAssertion(rdfs:label "Alcoholic Intoxication"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Torovirus Infections) AnnotationAssertion(Annotation( "MESH:D018176"^^xsd:string) "Infections with viruses of the genus TOROVIRUS, family CORONAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007514"^^xsd:string) AnnotationAssertion( "MESH:D018176"^^xsd:string) AnnotationAssertion( "Torovirus Infection"^^xsd:string) AnnotationAssertion( "Torovirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000501"^^xsd:string) AnnotationAssertion(rdfs:label "Torovirus Infections"^^xsd:string) SubClassOf( ) # Class: (DK Phocomelia Syndrome) AnnotationAssertion( "MIM:223340"^^xsd:string) AnnotationAssertion( "MESH:C565618"^^xsd:string) AnnotationAssertion( "Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations"^^xsd:string) AnnotationAssertion( "Von Voss-Cherstvoy Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000502"^^xsd:string) AnnotationAssertion(rdfs:label "DK Phocomelia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nasal Obstruction) AnnotationAssertion(Annotation( "MESH:D015508"^^xsd:string) "Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY."^^xsd:string) AnnotationAssertion( "MESH:D015508"^^xsd:string) AnnotationAssertion( "Bilateral Nasal Obstruction"^^xsd:string) AnnotationAssertion( "Nasal Airway Obstruction"^^xsd:string) AnnotationAssertion( "Nasal Blockage"^^xsd:string) AnnotationAssertion( "Nasal Blockages"^^xsd:string) AnnotationAssertion( "Nasal Obstructions"^^xsd:string) AnnotationAssertion( "Unilateral Nasal Obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000503"^^xsd:string) AnnotationAssertion(rdfs:label "Nasal Obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Beta-Amino Acids, Renal Transport of) AnnotationAssertion( "MIM:109660"^^xsd:string) AnnotationAssertion( "RDO:0007892"^^xsd:string) AnnotationAssertion( "AABT"^^xsd:string) AnnotationAssertion( "TAURINE RENAL REABSORPTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000504"^^xsd:string) AnnotationAssertion(rdfs:label "Beta-Amino Acids, Renal Transport of"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies) AnnotationAssertion( "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617452"^^xsd:string) AnnotationAssertion( "IDDFSDA"^^xsd:string) AnnotationAssertion( "OTUD6B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000505"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lactate Dehydrogenase Deficiency) AnnotationAssertion( "ABNORMAL LACTATE DEHYDROGENASE LEVEL"^^xsd:string) AnnotationAssertion( "MESH:C580233"^^xsd:string) AnnotationAssertion( "Deficiency of Lactate Dehydrogenase"^^xsd:string) AnnotationAssertion( "Lactate Dehydrogenase Subunit Deficiencies"^^xsd:string) AnnotationAssertion( "Ldh Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000506"^^xsd:string) AnnotationAssertion(rdfs:label "Lactate Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Sacral Hemangiomas Multiple Congenital Abnormalities) AnnotationAssertion( "MESH:C537222"^^xsd:string) AnnotationAssertion( "RDO:0003012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000507"^^xsd:string) AnnotationAssertion(rdfs:label "Sacral Hemangiomas Multiple Congenital Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Cataract 3) AnnotationAssertion( "MESH:C564452"^^xsd:string) AnnotationAssertion( "MCOPCT3"^^xsd:string) AnnotationAssertion( "congenital cataract with microcornea and microphthalmia"^^xsd:string) AnnotationAssertion( "microphthalmia and cataract 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000508"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Cataract 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leigh Syndrome due to Mitochondrial Complex II Deficiency) AnnotationAssertion( "MESH:C564961"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000510"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome due to Mitochondrial Complex II Deficiency"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken Syndrome 4) AnnotationAssertion( "MIM:606996"^^xsd:string) AnnotationAssertion( "MESH:C537581"^^xsd:string) AnnotationAssertion( "SLSN4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000511"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination) AnnotationAssertion( "NEDMEHM is caused by compound heterozygous mutation in the MTHFS gene on chromosome 15q25. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-28T15:19:30Z"^^xsd:string) AnnotationAssertion( "MIM:618367"^^xsd:string) AnnotationAssertion( "MONDO:0032705"^^xsd:string) AnnotationAssertion( "MTHFS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDMEHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000512"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Atrial Premature Complexes) AnnotationAssertion(Annotation( "MESH:D018880"^^xsd:string) "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE."^^xsd:string) AnnotationAssertion( "EFO:0009277"^^xsd:string) AnnotationAssertion( "MESH:D018880"^^xsd:string) AnnotationAssertion( "RDO:0007240"^^xsd:string) AnnotationAssertion( "Atrial Ectopic Beat"^^xsd:string) AnnotationAssertion( "Atrial Ectopic Beats"^^xsd:string) AnnotationAssertion( "Atrial Extrasystole"^^xsd:string) AnnotationAssertion( "Atrial Extrasystoles"^^xsd:string) AnnotationAssertion( "Atrial Premature Complex"^^xsd:string) AnnotationAssertion( "Atrial Premature Complices"^^xsd:string) AnnotationAssertion( "Premature Atrial Beat"^^xsd:string) AnnotationAssertion( "Premature Atrial Beats"^^xsd:string) AnnotationAssertion( "Premature Atrial Contraction"^^xsd:string) AnnotationAssertion( "Premature Atrial Contractions"^^xsd:string) AnnotationAssertion( "Premature Supraventricular Beat"^^xsd:string) AnnotationAssertion( "Premature Supraventricular Beats"^^xsd:string) AnnotationAssertion( "supraventricular ectopy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000514"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Premature Complexes"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis, Spastic Quadriplegia, and Mental Retardation) AnnotationAssertion( "MIM:614457"^^xsd:string) AnnotationAssertion( "ISQMR"^^xsd:string) AnnotationAssertion( "Ichthyosis, spastic quadriplegia, and impaired intellectual development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000515"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis, Spastic Quadriplegia, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lachiewicz Sibley Syndrome) AnnotationAssertion( "MESH:C538131"^^xsd:string) AnnotationAssertion( "Hereditary renal disease and preauricular pits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000516"^^xsd:string) AnnotationAssertion(rdfs:label "Lachiewicz Sibley Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Proteus Infections) AnnotationAssertion(Annotation( "MESH:D011512"^^xsd:string) "Infections with bacteria of the genus PROTEUS."^^xsd:string) AnnotationAssertion( "EFO:1001130"^^xsd:string) AnnotationAssertion( "MESH:D011512"^^xsd:string) AnnotationAssertion( "Proteus Infection"^^xsd:string) AnnotationAssertion( "Proteus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000517"^^xsd:string) AnnotationAssertion(rdfs:label "Proteus Infections"^^xsd:string) SubClassOf( ) # Class: (Parasitemia) AnnotationAssertion(Annotation( "MESH:D018512"^^xsd:string) "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018512"^^xsd:string) AnnotationAssertion( "parasitemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000518"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 6, Trisomy 6q) AnnotationAssertion( "MESH:C537812"^^xsd:string) AnnotationAssertion( "RDO:0003716"^^xsd:string) AnnotationAssertion( "Duplication 6q"^^xsd:string) AnnotationAssertion( "Trisomy 6q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000519"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Trisomy 6q"^^xsd:string) SubClassOf( ) # Class: (Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial) AnnotationAssertion( "MIM:261650"^^xsd:string) AnnotationAssertion( "MESH:C564890"^^xsd:string) AnnotationAssertion( "PCK2 deficiency"^^xsd:string) AnnotationAssertion( "PCK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PEPCK2 deficiency"^^xsd:string) AnnotationAssertion( "Phosphoenolpyruvate Carboxykinase 2 Deficiency"^^xsd:string) AnnotationAssertion( "PCK2-RELATED NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000520"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Invasive Candidiasis) AnnotationAssertion(Annotation( "MESH:D058365"^^xsd:string) "An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement."^^xsd:string) AnnotationAssertion( "EFO:1001283"^^xsd:string) AnnotationAssertion( "MESH:D058365"^^xsd:string) AnnotationAssertion( "Invasive Candidiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000522"^^xsd:string) AnnotationAssertion(rdfs:label "Invasive Candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Generalized Epidermolysis Bullosa Simplex 1B) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-27T16:14:38Z"^^xsd:string) AnnotationAssertion( "MIM:131900"^^xsd:string) AnnotationAssertion( "EBS1B"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Simplex Kobner"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Simplex, Koebner Type"^^xsd:string) AnnotationAssertion( "generalized intermediate epidermolysis bullosa simplex 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000523"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epidermolysis Bullosa Simplex 1B"^^xsd:string) SubClassOf( ) # Class: (Generalized Arterial Calcification of Infancy, 2) AnnotationAssertion( "MIM:614473"^^xsd:string) AnnotationAssertion( "GACI2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000524"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Arterial Calcification of Infancy, 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Myopathy 11) AnnotationAssertion(Annotation( "MIM:619967"^^xsd:string) "An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. Caused by homozygous or compound heterozygous mutation in the HACD1 gene on chromosome 10p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-27T14:16:51Z"^^xsd:string) AnnotationAssertion( "MIM:619967"^^xsd:string) AnnotationAssertion( "MONDO:0859264"^^xsd:string) AnnotationAssertion( "CMYO11"^^xsd:string) AnnotationAssertion( "CMYP11"^^xsd:string) AnnotationAssertion( "MYONP"^^xsd:string) AnnotationAssertion( "Nonprogressive Congenital Myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000525"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myopathy 11"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619475"^^xsd:string) "This disease is characterized by global developmental delay apparent from early childhood with intellectual disability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-18T14:18:18Z"^^xsd:string) AnnotationAssertion( "MIM:619475"^^xsd:string) AnnotationAssertion( "DDISBA"^^xsd:string) AnnotationAssertion( "SPTBN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000526"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tracheal Agenesis) AnnotationAssertion( "MESH:C536975"^^xsd:string) AnnotationAssertion( "Congenital tracheal agenesis"^^xsd:string) AnnotationAssertion( "Congenital tracheal stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000527"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheal Agenesis"^^xsd:string) SubClassOf( ) # Class: (Coronary Disease) AnnotationAssertion(Annotation( "MESH:D003327"^^xsd:string) "An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels."^^xsd:string) AnnotationAssertion( "MIM:300464"^^xsd:string) AnnotationAssertion( "MIM:607339"^^xsd:string) AnnotationAssertion( "MIM:608316"^^xsd:string) AnnotationAssertion( "MIM:608318"^^xsd:string) AnnotationAssertion( "MIM:608901"^^xsd:string) AnnotationAssertion( "MIM:610938"^^xsd:string) AnnotationAssertion( "MIM:611139"^^xsd:string) AnnotationAssertion( "MIM:612030"^^xsd:string) AnnotationAssertion( "MIM:614466"^^xsd:string) AnnotationAssertion( "MESH:D003327"^^xsd:string) AnnotationAssertion( "CHD"^^xsd:string) AnnotationAssertion( "Coronary Diseases"^^xsd:string) AnnotationAssertion( "coronary heart disease"^^xsd:string) AnnotationAssertion( "coronary heart diseases"^^xsd:string) AnnotationAssertion( "CORONARY ARTERY DISEASE, EARLY-ONSET"^^xsd:string) AnnotationAssertion( "THREE VESSEL CORONARY DISEASE"^^xsd:string) AnnotationAssertion( "chronic coronary heart disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CHDS1"^^xsd:string) AnnotationAssertion( "CHDS2"^^xsd:string) AnnotationAssertion( "CHDS3"^^xsd:string) AnnotationAssertion( "CHDS4"^^xsd:string) AnnotationAssertion( "CHDS5"^^xsd:string) AnnotationAssertion( "CHDS6"^^xsd:string) AnnotationAssertion( "CHDS7"^^xsd:string) AnnotationAssertion( "CHDS8"^^xsd:string) AnnotationAssertion( "CHDS9"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8"^^xsd:string) AnnotationAssertion( "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9"^^xsd:string) AnnotationAssertion( "Coronary artery disease, susceptibility to"^^xsd:string) AnnotationAssertion( "Coronary heart disease in familial hypercholesterolemia, protection against"^^xsd:string) AnnotationAssertion( "DOID:9000528"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Disease"^^xsd:string) SubClassOf( ) # Class: (Humeral Fractures) AnnotationAssertion(Annotation( "MESH:D006810"^^xsd:string) "Fractures of the HUMERUS."^^xsd:string) AnnotationAssertion( "EFO:0003943"^^xsd:string) AnnotationAssertion( "MESH:D006810"^^xsd:string) AnnotationAssertion( "RDO:0005818"^^xsd:string) AnnotationAssertion( "Humeral Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000529"^^xsd:string) AnnotationAssertion(rdfs:label "Humeral Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ENDOVE SYNDROME, LIMB-BRAIN TYPE) AnnotationAssertion(Annotation( "MIM:619218"^^xsd:string) "This is a disease characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands have four short, malformed fingers, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brain stem."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-08T12:01:30Z"^^xsd:string) AnnotationAssertion( "MIM:619218"^^xsd:string) AnnotationAssertion( "EN1 SYNDROME"^^xsd:string) AnnotationAssertion( "ENDOVESLB"^^xsd:string) AnnotationAssertion( "Limb-brain ENDOVE syndrome"^^xsd:string) AnnotationAssertion( "MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES"^^xsd:string) AnnotationAssertion( "MLEHFB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000530"^^xsd:string) AnnotationAssertion(rdfs:label "ENDOVE SYNDROME, LIMB-BRAIN TYPE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 18, Trisomy 18q) AnnotationAssertion(Annotation( "MESH:C538308"^^xsd:string) "Duplication of the long (q) arm of chromosome 18. Affected children may have various abnormalities that include intra-uterine growth retardation, craniofacial abnormalities, heart malformations; and psychomotor delay."^^xsd:string) AnnotationAssertion( "MESH:C538308"^^xsd:string) AnnotationAssertion( "Duplication 18q"^^xsd:string) AnnotationAssertion( "Trisomy 18q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000531"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18, Trisomy 18q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chronic Motor Tics) AnnotationAssertion( "MESH:C563241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000533"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Motor Tics"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2) AnnotationAssertion( "MIM:614441"^^xsd:string) AnnotationAssertion( "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2/ENTEROPATHY SYNDROME"^^xsd:string) AnnotationAssertion( "PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "PDP, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "PHOAR2"^^xsd:string) AnnotationAssertion( "PHOAR2-ENTEROPATHY SYNDROME"^^xsd:string) AnnotationAssertion( "PHOAR2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000535"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (EPSTEIN-BARR VIRUS INSERTION SITE 1) AnnotationAssertion( "MIM:132850"^^xsd:string) AnnotationAssertion( "RDO:0007978"^^xsd:string) AnnotationAssertion( "EBVS1"^^xsd:string) AnnotationAssertion( "EPSTEIN-BARR VIRUS INTEGRATION SITE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000538"^^xsd:string) AnnotationAssertion(rdfs:label "EPSTEIN-BARR VIRUS INSERTION SITE 1"^^xsd:string) SubClassOf( ) # Class: (Cleft Palate, Proliferative Retinopathy, and Developmental Delay) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-02T09:37:00Z"^^xsd:string) AnnotationAssertion( "MIM:619074"^^xsd:string) AnnotationAssertion( "CPPRDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000539"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Palate, Proliferative Retinopathy, and Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (HIV Wasting Syndrome) AnnotationAssertion(Annotation( "MESH:D019247"^^xsd:string) "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)."^^xsd:string) AnnotationAssertion( "EFO:0007312"^^xsd:string) AnnotationAssertion( "MESH:D019247"^^xsd:string) AnnotationAssertion( "AIDS Wasting Syndrome"^^xsd:string) AnnotationAssertion( "HIV Wasting Disease"^^xsd:string) AnnotationAssertion( "Slim Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000540"^^xsd:string) AnnotationAssertion(rdfs:label "HIV Wasting Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chondrodysplasia Calcificans Metaphysealis) AnnotationAssertion( "MIM:215050"^^xsd:string) AnnotationAssertion( "MESH:C565855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000541"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrodysplasia Calcificans Metaphysealis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Animal Lameness) AnnotationAssertion(Annotation( "MESH:D007794"^^xsd:string) "A departure from the normal gait in animals."^^xsd:string) AnnotationAssertion( "MESH:D007794"^^xsd:string) AnnotationAssertion( "Animal gait disorder"^^xsd:string) AnnotationAssertion( "Animal gait disorders"^^xsd:string) AnnotationAssertion( "Animal lamenesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000542"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Lameness"^^xsd:string) SubClassOf( ) # Class: (Death) AnnotationAssertion(Annotation( "MESH:D003643"^^xsd:string) "Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions."^^xsd:string) AnnotationAssertion( "EFO:0009434"^^xsd:string) AnnotationAssertion( "EFO:0030050"^^xsd:string) AnnotationAssertion( "EFO:0030051"^^xsd:string) AnnotationAssertion( "MESH:D003643"^^xsd:string) AnnotationAssertion( "RDO:0004928"^^xsd:string) AnnotationAssertion( "Cardiac Death"^^xsd:string) AnnotationAssertion( "DEATH IN EARLY ADULTHOOD"^^xsd:string) AnnotationAssertion( "death by undetermined cause"^^xsd:string) AnnotationAssertion( "death from disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Determination of Death"^^xsd:string) AnnotationAssertion( "Near-Death Experience"^^xsd:string) AnnotationAssertion( "DOID:9000543"^^xsd:string) AnnotationAssertion(rdfs:label "Death"^^xsd:string) SubClassOf( ) # Class: (Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis) AnnotationAssertion( "MIM:600907"^^xsd:string) AnnotationAssertion( "MESH:C563430"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000544"^^xsd:string) AnnotationAssertion(rdfs:label "Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ectromelia) AnnotationAssertion(Annotation( "MESH:D004480"^^xsd:string) "Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia."^^xsd:string) AnnotationAssertion( "MESH:D004480"^^xsd:string) AnnotationAssertion( "Amelia"^^xsd:string) AnnotationAssertion( "Fused Legs and Feet"^^xsd:string) AnnotationAssertion( "Hemimelia"^^xsd:string) AnnotationAssertion( "Mermaid Malformation"^^xsd:string) AnnotationAssertion( "Mermaid Syndrome"^^xsd:string) AnnotationAssertion( "Phocomelia"^^xsd:string) AnnotationAssertion( "Sirenomelia"^^xsd:string) AnnotationAssertion( "Sirenomelia Sequence"^^xsd:string) AnnotationAssertion( "sirenomelia sequences"^^xsd:string) AnnotationAssertion( "sirenomelus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000545"^^xsd:string) AnnotationAssertion(rdfs:label "Ectromelia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CEBALID Syndrome) AnnotationAssertion(Annotation( "MIM:618774"^^xsd:string) "A complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-12T17:37:30Z"^^xsd:string) AnnotationAssertion( "MN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618774"^^xsd:string) AnnotationAssertion( "CEBALID"^^xsd:string) AnnotationAssertion( "MCTT"^^xsd:string) AnnotationAssertion( "MN1 C-terminal truncation syndrome"^^xsd:string) AnnotationAssertion( "craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000547"^^xsd:string) AnnotationAssertion(rdfs:label "CEBALID Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Drug-induced Anemia) AnnotationAssertion( "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin caused by the ingestion of some medication."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "Anemia caused by medication"^^xsd:string) AnnotationAssertion( "Anemia due to medication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000548"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-induced Anemia"^^xsd:string) SubClassOf( ) # Class: (Tetraploidy) AnnotationAssertion(Annotation( "MESH:D057891"^^xsd:string) "The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES."^^xsd:string) AnnotationAssertion( "MESH:D057891"^^xsd:string) AnnotationAssertion( "Tetraploid"^^xsd:string) AnnotationAssertion( "Tetraploidies"^^xsd:string) AnnotationAssertion( "Tetraploids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000549"^^xsd:string) AnnotationAssertion(rdfs:label "Tetraploidy"^^xsd:string) SubClassOf( ) # Class: (Epidermolytic Hyperkeratosis, Late-Onset) AnnotationAssertion( "MESH:C566187"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000550"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolytic Hyperkeratosis, Late-Onset"^^xsd:string) SubClassOf( ) # Class: (Atrial Septal Defect Sinus Venosus) AnnotationAssertion( "MESH:C548009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000551"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Septal Defect Sinus Venosus"^^xsd:string) SubClassOf( ) # Class: (Cap Myopathy) AnnotationAssertion( "MESH:C579969"^^xsd:string) AnnotationAssertion( "Cap Disease"^^xsd:string) AnnotationAssertion( "Congenital Myopathy with Caps"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000552"^^xsd:string) AnnotationAssertion(rdfs:label "Cap Myopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acute Cholinergic Dysautonomia) AnnotationAssertion( "MESH:C535672"^^xsd:string) AnnotationAssertion( "RDO:0000924"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000554"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Cholinergic Dysautonomia"^^xsd:string) SubClassOf( ) # Class: (Vulvar Lichen Sclerosus) AnnotationAssertion(Annotation( "MESH:D007724"^^xsd:string) "Atrophy and shriveling of the SKIN of the VULVA that is characterized by the whitish LICHEN SCLEROSUS appearance, inflammation, and PRURITUS."^^xsd:string) AnnotationAssertion( "EFO:1000623"^^xsd:string) AnnotationAssertion( "MESH:D007724"^^xsd:string) AnnotationAssertion( "NCI:C27723"^^xsd:string) AnnotationAssertion( "RDO:0005941"^^xsd:string) AnnotationAssertion( "Kraurosis Vulvae"^^xsd:string) AnnotationAssertion( "Lichen Sclerosus of Vulva"^^xsd:string) AnnotationAssertion( "Vulva Lichen Sclerosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000555"^^xsd:string) AnnotationAssertion(rdfs:label "Vulvar Lichen Sclerosus"^^xsd:string) SubClassOf( ) # Class: (White Platelet Syndrome) AnnotationAssertion( "MESH:C536702"^^xsd:string) AnnotationAssertion( "RDO:0002358"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000556"^^xsd:string) AnnotationAssertion(rdfs:label "White Platelet Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia 1) AnnotationAssertion( "MIM:313900"^^xsd:string) AnnotationAssertion( "MESH:C564052"^^xsd:string) AnnotationAssertion( "THC"^^xsd:string) AnnotationAssertion( "THC1"^^xsd:string) AnnotationAssertion( "X-Linked Thrombocytopenia"^^xsd:string) AnnotationAssertion( "X-linked thrombocytopenia 1"^^xsd:string) AnnotationAssertion( "XLT"^^xsd:string) AnnotationAssertion( "X-linked thrombocytopenia, intermittent"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000557"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mucinous Cystadenoma) AnnotationAssertion(Annotation( "MESH:D018291"^^xsd:string) "A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential."^^xsd:string) AnnotationAssertion( "EFO:1001048"^^xsd:string) AnnotationAssertion( "MESH:D018291"^^xsd:string) AnnotationAssertion( "Mucinous Cystadenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000558"^^xsd:string) AnnotationAssertion(rdfs:label "Mucinous Cystadenoma"^^xsd:string) SubClassOf( ) # Class: (Glyoxalase II Deficiency) AnnotationAssertion( "MIM:614033"^^xsd:string) AnnotationAssertion( "MESH:C564215"^^xsd:string) AnnotationAssertion( "hydroxyacyl glutathione hydrolase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000559"^^xsd:string) AnnotationAssertion(rdfs:label "Glyoxalase II Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Male Pseudohermaphroditism due to Defective LH Molecule) AnnotationAssertion( "MIM:152780"^^xsd:string) AnnotationAssertion( "MESH:C535692"^^xsd:string) AnnotationAssertion( "RDO:0000951"^^xsd:string) AnnotationAssertion( "Male Pseudohermaphroditism due to Defective LH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000562"^^xsd:string) AnnotationAssertion(rdfs:label "Male Pseudohermaphroditism due to Defective LH Molecule"^^xsd:string) SubClassOf( ) # Class: (FLOTCH Syndrome) AnnotationAssertion( "MESH:C537065"^^xsd:string) AnnotationAssertion( "Friedel Heid Grosshans syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000563"^^xsd:string) AnnotationAssertion(rdfs:label "FLOTCH Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prehypertension) AnnotationAssertion(Annotation( "MESH:D058246"^^xsd:string) "Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg."^^xsd:string) AnnotationAssertion( "MESH:D058246"^^xsd:string) AnnotationAssertion( "Pre Hypertension"^^xsd:string) AnnotationAssertion( "Pre-Hypertensions"^^xsd:string) AnnotationAssertion( "Prehypertensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000564"^^xsd:string) AnnotationAssertion(rdfs:label "Prehypertension"^^xsd:string) SubClassOf( ) # Class: (Stargardt Disease 4) AnnotationAssertion( "MIM:603786"^^xsd:string) AnnotationAssertion( "Stargardt disease, dominant"^^xsd:string) AnnotationAssertion( "MESH:C535521"^^xsd:string) AnnotationAssertion( "STGD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000565"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt Disease 4"^^xsd:string) SubClassOf( ) # Class: (Bifid Nose with or without Anorectal and Renal Anomalies) AnnotationAssertion( "MIM:608980"^^xsd:string) AnnotationAssertion( "MESH:C567672"^^xsd:string) AnnotationAssertion( "BNAR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000566"^^xsd:string) AnnotationAssertion(rdfs:label "Bifid Nose with or without Anorectal and Renal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypercalciuric Hypercalcemia) AnnotationAssertion( "MESH:C563373"^^xsd:string) AnnotationAssertion( "RDO:0012647"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000567"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalciuric Hypercalcemia"^^xsd:string) SubClassOf( ) # Class: (Analbuminemia) AnnotationAssertion( "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616000"^^xsd:string) AnnotationAssertion( "NCI:C124851"^^xsd:string) AnnotationAssertion( "ANALBA"^^xsd:string) AnnotationAssertion( "analbuminemia Baghdad"^^xsd:string) AnnotationAssertion( "analbuminemia Roma"^^xsd:string) AnnotationAssertion( "analbuminemia, American Indian type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000568"^^xsd:string) AnnotationAssertion(rdfs:label "Analbuminemia"^^xsd:string) SubClassOf( ) # Class: (Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria) AnnotationAssertion( "MIM:239199"^^xsd:string) AnnotationAssertion( "MESH:C565496"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000569"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria"^^xsd:string) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-06T10:10:45Z"^^xsd:string) AnnotationAssertion( "MIM:601800"^^xsd:string) AnnotationAssertion( "EYCL1"^^xsd:string) AnnotationAssertion( "EYE COLOR 1"^^xsd:string) AnnotationAssertion( "EYE COLOR, GREEN/BLUE"^^xsd:string) AnnotationAssertion( "GEY"^^xsd:string) AnnotationAssertion( "SHEP3"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN"^^xsd:string) AnnotationAssertion( "Melanoma, cutaneous malignant, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000570"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AIDS-Related Opportunistic Infections) AnnotationAssertion(Annotation( "MESH:D017088"^^xsd:string) "Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus."^^xsd:string) AnnotationAssertion( "MESH:D017088"^^xsd:string) AnnotationAssertion( "RDO:0007023"^^xsd:string) AnnotationAssertion( "AIDS-Related Opportunistic Infection"^^xsd:string) AnnotationAssertion( "HIV Related Opportunistic Infections"^^xsd:string) AnnotationAssertion( "HIV-Related Opportunistic Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000571"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS-Related Opportunistic Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive) AnnotationAssertion( "MIM:256840"^^xsd:string) AnnotationAssertion( "RDO:0013737"^^xsd:string) AnnotationAssertion( "MESH:C564948"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000572"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 80) AnnotationAssertion(Annotation( "MIM:620222"^^xsd:string) "Male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Caused by homozygous mutation in the DRC1 gene on chromosome 2p23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T09:51:37Z"^^xsd:string) AnnotationAssertion( "DRC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620222"^^xsd:string) AnnotationAssertion( "SPGF80"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000573"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 80"^^xsd:string) SubClassOf( ) # Class: (Sao Paulo MCA/MR Syndrome) AnnotationAssertion( "MESH:C563119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000574"^^xsd:string) AnnotationAssertion(rdfs:label "Sao Paulo MCA/MR Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Signs and Symptoms) AnnotationAssertion(Annotation( "MESH:D012818"^^xsd:string) "Respiratory system manifestations of diseases of the respiratory tract or of other organs."^^xsd:string) AnnotationAssertion( "MESH:D012818"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000575"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Signs and Symptoms"^^xsd:string) SubClassOf( ) # Class: (Imperforate Hymen) AnnotationAssertion( "MIM:237100"^^xsd:string) AnnotationAssertion( "MESH:C562397"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000576"^^xsd:string) AnnotationAssertion(rdfs:label "Imperforate Hymen"^^xsd:string) SubClassOf( ) # Class: (Bronchopulmonary Sequestration) AnnotationAssertion(Annotation( "MESH:D001998"^^xsd:string) "A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung."^^xsd:string) AnnotationAssertion( "MESH:D001998"^^xsd:string) AnnotationAssertion( "RDO:0005075"^^xsd:string) AnnotationAssertion( "Bronchopulmonary Sequestrations"^^xsd:string) AnnotationAssertion( "Pulmonary Sequestration"^^xsd:string) AnnotationAssertion( "Pulmonary Sequestrations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000577"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchopulmonary Sequestration"^^xsd:string) SubClassOf( ) # Class: (SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE) AnnotationAssertion(Annotation( "MIM:618598"^^xsd:string) "An autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-11T11:40:28Z"^^xsd:string) AnnotationAssertion( "EFO:0010567"^^xsd:string) AnnotationAssertion( "MIM:618598"^^xsd:string) AnnotationAssertion( "SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "STAHP"^^xsd:string) AnnotationAssertion( "progressive spastic tetraplegia and axial hypotonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000578"^^xsd:string) AnnotationAssertion(rdfs:label "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY) AnnotationAssertion(Annotation( "MIM:619844"^^xsd:string) "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-27T13:59:45Z"^^xsd:string) AnnotationAssertion( "MIM:619844"^^xsd:string) AnnotationAssertion( "IDDPN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000579"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan) AnnotationAssertion( "MIM:203600"^^xsd:string) AnnotationAssertion( "MESH:C537052"^^xsd:string) AnnotationAssertion( "Moynahan alopecia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000580"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cantalamessa Baldini Ambrosi Syndrome) AnnotationAssertion( "MESH:C537981"^^xsd:string) AnnotationAssertion( "RDO:0003910"^^xsd:string) AnnotationAssertion( "Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000581"^^xsd:string) AnnotationAssertion(rdfs:label "Cantalamessa Baldini Ambrosi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Reticulocytosis) AnnotationAssertion(Annotation( "MESH:D045262"^^xsd:string) "An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA."^^xsd:string) AnnotationAssertion( "MESH:D045262"^^xsd:string) AnnotationAssertion( "Reticulocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN LAS PALMAS"^^xsd:string) AnnotationAssertion( "DOID:9000582"^^xsd:string) AnnotationAssertion(rdfs:label "Reticulocytosis"^^xsd:string) SubClassOf( ) # Class: (Trigger Finger Disorder) AnnotationAssertion(Annotation( "MESH:D052582"^^xsd:string) "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)."^^xsd:string) AnnotationAssertion( "MIM:190410"^^xsd:string) AnnotationAssertion( "MESH:D052582"^^xsd:string) AnnotationAssertion( "Flexor Tendon Entrapment"^^xsd:string) AnnotationAssertion( "Snapping Finger"^^xsd:string) AnnotationAssertion( "Snapping Fingers"^^xsd:string) AnnotationAssertion( "Trigger Digit"^^xsd:string) AnnotationAssertion( "Trigger Digits"^^xsd:string) AnnotationAssertion( "Trigger Thumb"^^xsd:string) AnnotationAssertion( "flexor tendon entrapments"^^xsd:string) AnnotationAssertion( "trigger thumbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000583"^^xsd:string) AnnotationAssertion(rdfs:label "Trigger Finger Disorder"^^xsd:string) SubClassOf( ) # Class: (Onycholysis) AnnotationAssertion(Annotation( "MESH:D054039"^^xsd:string) "Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury."^^xsd:string) AnnotationAssertion( "MESH:D054039"^^xsd:string) AnnotationAssertion( "RDO:0007644"^^xsd:string) AnnotationAssertion( "Onycholyses"^^xsd:string) AnnotationAssertion( "Photo onycholysis"^^xsd:string) AnnotationAssertion( "Photo-onycholyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000584"^^xsd:string) AnnotationAssertion(rdfs:label "Onycholysis"^^xsd:string) SubClassOf( ) # Class: (Intervertebral Disc Disease) AnnotationAssertion( "MIM:603932"^^xsd:string) AnnotationAssertion( "EFO:1002005"^^xsd:string) AnnotationAssertion( "MESH:C535531"^^xsd:string) AnnotationAssertion( "IDD"^^xsd:string) AnnotationAssertion( "LDD"^^xsd:string) AnnotationAssertion( "LUMBAR DISC DISEASE"^^xsd:string) AnnotationAssertion( "lumbar disc degeneration, susceptibility to"^^xsd:string) AnnotationAssertion( "lumbar disc herniation, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "intervertebral disc disease, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9000585"^^xsd:string) AnnotationAssertion(rdfs:label "Intervertebral Disc Disease"^^xsd:string) SubClassOf( ) # Class: (Vocal Cord Paralysis) AnnotationAssertion(Annotation( "MESH:D014826"^^xsd:string) "Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA."^^xsd:string) AnnotationAssertion( "MESH:D014826"^^xsd:string) AnnotationAssertion( "Acquired Vocal Cord Palsy"^^xsd:string) AnnotationAssertion( "Bilateral Vocal Cord Paresis"^^xsd:string) AnnotationAssertion( "Congenital Vocal Cord Palsy"^^xsd:string) AnnotationAssertion( "Laryngeal Paralyses"^^xsd:string) AnnotationAssertion( "Laryngeal Paralysis"^^xsd:string) AnnotationAssertion( "Partial Paralysis (Paresis) Vocal Cords"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Nerve Palsy"^^xsd:string) AnnotationAssertion( "Total Vocal Cord Paralysis"^^xsd:string) AnnotationAssertion( "Unilateral Vocal Cord Paralysis"^^xsd:string) AnnotationAssertion( "Unilateral Vocal Cord Paresis"^^xsd:string) AnnotationAssertion( "Vocal Cord Palsies"^^xsd:string) AnnotationAssertion( "Vocal Cord Palsy"^^xsd:string) AnnotationAssertion( "Vocal Cord Paralyses"^^xsd:string) AnnotationAssertion( "Vocal Cord Pareses"^^xsd:string) AnnotationAssertion( "Vocal Cord Paresis"^^xsd:string) AnnotationAssertion( "Vocal Fold Palsies"^^xsd:string) AnnotationAssertion( "Vocal Fold Palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000586"^^xsd:string) AnnotationAssertion(rdfs:label "Vocal Cord Paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia Associated with Colobomatous Cyst) AnnotationAssertion( "MESH:C537463"^^xsd:string) AnnotationAssertion( "Microphthalmos bilateral, colobomatous orbital cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000587"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia Associated with Colobomatous Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-01T12:26:04Z"^^xsd:string) AnnotationAssertion( "MIM:PS607250"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000588"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immotile Cilia Syndrome, due to Defective Radial Spokes) AnnotationAssertion( "MIM:242670"^^xsd:string) AnnotationAssertion( "MESH:C536286"^^xsd:string) AnnotationAssertion( "Cilia with defective radial spokes"^^xsd:string) AnnotationAssertion( "Ciliary Dyskinesia With Defective Radial Spokes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000589"^^xsd:string) AnnotationAssertion(rdfs:label "Immotile Cilia Syndrome, due to Defective Radial Spokes"^^xsd:string) SubClassOf( ) # Class: (Dyspnea) AnnotationAssertion(Annotation( "MESH:D004417"^^xsd:string) "Difficult or labored breathing."^^xsd:string) AnnotationAssertion( "EFO:0009727"^^xsd:string) AnnotationAssertion( "MESH:D004417"^^xsd:string) AnnotationAssertion( "Breath Shortness"^^xsd:string) AnnotationAssertion( "Breath Shortnesses"^^xsd:string) AnnotationAssertion( "Breathlessness"^^xsd:string) AnnotationAssertion( "Breathlessnesses"^^xsd:string) AnnotationAssertion( "Dyspneas"^^xsd:string) AnnotationAssertion( "Shortness of Breath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000590"^^xsd:string) AnnotationAssertion(rdfs:label "Dyspnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Nongoitrous Hypothyroidism) AnnotationAssertion( "MESH:C000603735"^^xsd:string) AnnotationAssertion( "RTSH"^^xsd:string) AnnotationAssertion( "TSH resistance"^^xsd:string) AnnotationAssertion( "congenital hypothyroidism due to TSH resistance"^^xsd:string) AnnotationAssertion( "hypothyroidism due to unresponsiveness to thyrotropin"^^xsd:string) AnnotationAssertion( "resistance to thyroid-stimulating hormone"^^xsd:string) AnnotationAssertion( "resistance to thyrotropin"^^xsd:string) AnnotationAssertion( "thyrotropin resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000591"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Nongoitrous Hypothyroidism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1) AnnotationAssertion(Annotation( "MIM:301108"^^xsd:string) "An X-linked syndromic disorder that is phenotypically more severe in males than females. Caused by hemizygous or heterozygous mutation in the DKC1 gene on chromosome Xq28."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:33:21Z"^^xsd:string) AnnotationAssertion( "DKC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:301108"^^xsd:string) AnnotationAssertion( "CHINE1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000594"^^xsd:string) AnnotationAssertion(rdfs:label "Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1"^^xsd:string) SubClassOf( ) # Class: (Lacerations) AnnotationAssertion(Annotation( "MESH:D022125"^^xsd:string) "Torn, ragged, mangled wounds."^^xsd:string) AnnotationAssertion( "MESH:D022125"^^xsd:string) AnnotationAssertion( "RDO:0007464"^^xsd:string) AnnotationAssertion( "Laceration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000595"^^xsd:string) AnnotationAssertion(rdfs:label "Lacerations"^^xsd:string) SubClassOf( ) # Class: (Isolated Noncompaction of the Ventricular Myocardium) AnnotationAssertion(Annotation( "MESH:D056830"^^xsd:string) "Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen."^^xsd:string) AnnotationAssertion( "EFO:1001802"^^xsd:string) AnnotationAssertion( "MESH:D056830"^^xsd:string) AnnotationAssertion( "RDO:0007762"^^xsd:string) AnnotationAssertion( "Isolated Non-compaction of the Ventricular Myocardium"^^xsd:string) AnnotationAssertion( "Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked"^^xsd:string) AnnotationAssertion( "Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000596"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Noncompaction of the Ventricular Myocardium"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites) AnnotationAssertion( "MIM:141700"^^xsd:string) AnnotationAssertion( "MESH:C564197"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000597"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites"^^xsd:string) SubClassOf( ) # Class: (Cranial Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D020209"^^xsd:string) "Dysfunction of one or more cranial nerves causally related to a traumatic injury. Penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA; NECK INJURIES; and trauma to the facial region are conditions associated with cranial nerve injuries."^^xsd:string) AnnotationAssertion( "MESH:D020209"^^xsd:string) AnnotationAssertion( "Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Traumatic Cranial Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Cranial Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000598"^^xsd:string) AnnotationAssertion(rdfs:label "Cranial Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperbilirubinemia, Transient Familial Neonatal) AnnotationAssertion( "MIM:237900"^^xsd:string) AnnotationAssertion( "MESH:C562692"^^xsd:string) AnnotationAssertion( "RDO:0012294"^^xsd:string) AnnotationAssertion( "HBLRTFN"^^xsd:string) AnnotationAssertion( "LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000599"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperbilirubinemia, Transient Familial Neonatal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atresia of Small Intestine) AnnotationAssertion( "MESH:C538260"^^xsd:string) AnnotationAssertion( "Congenital atresia of the small intestine"^^xsd:string) AnnotationAssertion( "Small intestine atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000600"^^xsd:string) AnnotationAssertion(rdfs:label "Atresia of Small Intestine"^^xsd:string) SubClassOf( ) # Class: (Mental Fatigue) AnnotationAssertion(Annotation( "MESH:D005222"^^xsd:string) "A condition of low alertness or cognitive impairment, usually associated with prolonged mental activities or stress."^^xsd:string) AnnotationAssertion( "MESH:D005222"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000601"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Fatigue"^^xsd:string) SubClassOf( ) # Class: (Oocyte Maturation Defect 4) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617743"^^xsd:string) AnnotationAssertion( "NCI:C188145"^^xsd:string) AnnotationAssertion( "OOMD4"^^xsd:string) AnnotationAssertion( "OZEMA4"^^xsd:string) AnnotationAssertion( "Oocyte/zygote/embryo maturation arrest 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000602"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte Maturation Defect 4"^^xsd:string) SubClassOf( ) # Class: (Cardiomyopathy Associated with Myopathy and Sudden Death) AnnotationAssertion( "MIM:212130"^^xsd:string) AnnotationAssertion( "MESH:C565881"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000603"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiomyopathy Associated with Myopathy and Sudden Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Moderate Minicore Myopathy, with Hand Involvement) AnnotationAssertion( "RDO:0014591"^^xsd:string) AnnotationAssertion( "MESH:C566147"^^xsd:string) AnnotationAssertion( "moderate multicore myopathy, with hand involvement"^^xsd:string) AnnotationAssertion( "moderate multiminicore disease, with hand involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000604"^^xsd:string) AnnotationAssertion(rdfs:label "Moderate Minicore Myopathy, with Hand Involvement"^^xsd:string) SubClassOf( ) # Class: (Preleukemias) AnnotationAssertion(Annotation( "MESH:D011289"^^xsd:string) "Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria."^^xsd:string) AnnotationAssertion( "MESH:D011289"^^xsd:string) AnnotationAssertion( "preleukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000605"^^xsd:string) AnnotationAssertion(rdfs:label "Preleukemias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities) AnnotationAssertion( "MIM:608814"^^xsd:string) AnnotationAssertion( "MESH:C537879"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000606"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1p31 p22) AnnotationAssertion( "MESH:C535593"^^xsd:string) AnnotationAssertion( "RDO:0000811"^^xsd:string) AnnotationAssertion( "Deletion 1p31 p22"^^xsd:string) AnnotationAssertion( "Monosomy 1p31 p22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000607"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1p31 p22"^^xsd:string) SubClassOf( ) # Class: (Viral Conjunctivitis) AnnotationAssertion(Annotation( "MESH:D003236"^^xsd:string) "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection."^^xsd:string) AnnotationAssertion( "EFO:0008571"^^xsd:string) AnnotationAssertion( "MESH:D003236"^^xsd:string) AnnotationAssertion( "Viral Conjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000608"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus) AnnotationAssertion( "MIM:616192"^^xsd:string) AnnotationAssertion( "ACPHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000609"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Obstetric Labor Complications) AnnotationAssertion(Annotation( "MESH:D007744"^^xsd:string) "Medical problems associated with OBSTETRIC LABOR, such as BREECH PRESENTATION; PREMATURE OBSTETRIC LABOR; HEMORRHAGE; or others. These complications can affect the well-being of the mother, the FETUS, or both."^^xsd:string) AnnotationAssertion( "MESH:D007744"^^xsd:string) AnnotationAssertion( "Labor Complication"^^xsd:string) AnnotationAssertion( "Labor Complications"^^xsd:string) AnnotationAssertion( "Obstetric Labor Complication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000610"^^xsd:string) AnnotationAssertion(rdfs:label "Obstetric Labor Complications"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cardiac Allograft Vasculopathy) AnnotationAssertion( "Development of coronary artery disease in the arteries of the transplanted heart."^^xsd:string) AnnotationAssertion( "CAV"^^xsd:string) AnnotationAssertion( "cardiac transplant vasculopathy"^^xsd:string) AnnotationAssertion( "transplant coronary artery disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000612"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Allograft Vasculopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyaline Membrane Disease) AnnotationAssertion(Annotation( "MESH:D006819"^^xsd:string) "A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS)."^^xsd:string) AnnotationAssertion( "MESH:C566881"^^xsd:string) AnnotationAssertion( "MIM:267450"^^xsd:string) AnnotationAssertion( "RDO:0000286"^^xsd:string) AnnotationAssertion( "RDO:0015097"^^xsd:string) AnnotationAssertion( "MESH:D006819"^^xsd:string) AnnotationAssertion( "Hyaline Membrane Diseases"^^xsd:string) AnnotationAssertion( "RDS of prematurity"^^xsd:string) AnnotationAssertion( "RESPIRATORY DISTRESS ASSOCIATED WITH PREMATURITY"^^xsd:string) AnnotationAssertion( "respiratory distress syndrome in premature infants"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000613"^^xsd:string) AnnotationAssertion(rdfs:label "Hyaline Membrane Disease"^^xsd:string) SubClassOf( ) # Class: (upper tract urothelial carcinoma) AnnotationAssertion(Annotation( "UBERON:0000365"^^xsd:string) Annotation( "https://www.merriam-webster.com"^^xsd:string) "This is carcinoma that derives from transitional epithelial cells (urothelium) in the renal pelvis or ureters."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-09-23T11:30:10Z"^^xsd:string) AnnotationAssertion( "upper tract transitional cell carcinoma"^^xsd:string) AnnotationAssertion( "upper urinary tract urothelial carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000614"^^xsd:string) AnnotationAssertion(rdfs:label "upper tract urothelial carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619103"^^xsd:string) "A syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-01-18T13:22:55Z"^^xsd:string) AnnotationAssertion( "MIM:619103"^^xsd:string) AnnotationAssertion( "NEDFASB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000615"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Anadysplasia 1) AnnotationAssertion( "MESH:C567545"^^xsd:string) AnnotationAssertion( "MANDP1"^^xsd:string) AnnotationAssertion( "METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "Metaphyseal anadysplasia 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000616"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Anadysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Myelocerebellar Disorder) AnnotationAssertion( "MIM:159550"^^xsd:string) AnnotationAssertion( "MESH:C563233"^^xsd:string) AnnotationAssertion( "NCI:C176909"^^xsd:string) AnnotationAssertion( "RDO:0012567"^^xsd:string) AnnotationAssertion( "ATXPC"^^xsd:string) AnnotationAssertion( "Ataxia-Pancytopenia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000617"^^xsd:string) AnnotationAssertion(rdfs:label "Myelocerebellar Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Surgical Shock) AnnotationAssertion(Annotation( "MESH:D012773"^^xsd:string) "A type of shock that occurs as a result of a surgical procedure."^^xsd:string) AnnotationAssertion( "EFO:0007686"^^xsd:string) AnnotationAssertion( "MESH:D012773"^^xsd:string) AnnotationAssertion( "Surgical Shocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000618"^^xsd:string) AnnotationAssertion(rdfs:label "Surgical Shock"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uncombable Hair Syndrome 1) AnnotationAssertion(Annotation( "MIM:191480"^^xsd:string) "Characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. caused by homozygous or compound heterozygous mutation in the PADI3 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-31T07:52:13Z"^^xsd:string) AnnotationAssertion( "MIM:191480"^^xsd:string) AnnotationAssertion( "PADI3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UHS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000619"^^xsd:string) AnnotationAssertion(rdfs:label "Uncombable Hair Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Bleeding Disorder Due To P2rx1 Defect) AnnotationAssertion( "MESH:C576084"^^xsd:string) AnnotationAssertion( "RDO:0015782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000620"^^xsd:string) AnnotationAssertion(rdfs:label "Bleeding Disorder Due To P2rx1 Defect"^^xsd:string) SubClassOf( ) # Class: (Generalized Epidermolysis Bullosa Simplex 2D) AnnotationAssertion(Annotation( "MIM:619599"^^xsd:string) "This disease is characterized by widespread intraepidermal skin blistering and erosions from birth."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T12:32:16Z"^^xsd:string) AnnotationAssertion( "MIM:619599"^^xsd:string) AnnotationAssertion( "EBS2D"^^xsd:string) AnnotationAssertion( "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D"^^xsd:string) AnnotationAssertion( "EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000621"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epidermolysis Bullosa Simplex 2D"^^xsd:string) SubClassOf( ) # Class: (Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1) AnnotationAssertion( "MIM:259100"^^xsd:string) AnnotationAssertion( "PDP, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "PHO, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "PHOAR1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CRANIOOSTEOARTHROPATHY"^^xsd:string) AnnotationAssertion( "CURRARINO IDIOPATHIC OSTEOARTHROPATHY"^^xsd:string) AnnotationAssertion( "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD"^^xsd:string) AnnotationAssertion( "DOID:9000622"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1"^^xsd:string) SubClassOf( ) # Class: (panic disorder with agoraphobia) AnnotationAssertion(Annotation( "NCI:C97194"^^xsd:string) "This is a disorder in which an individual experiences recurrent, unexpected panic attacks, persistent concern about having additional panic attacks, and agoraphobia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-13T11:00:50Z"^^xsd:string) AnnotationAssertion( "EFO:0009509"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000623"^^xsd:string) AnnotationAssertion(rdfs:label "panic disorder with agoraphobia"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 1I) AnnotationAssertion(Annotation( "MIM:619742"^^xsd:string) "A neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. Caused by heterozygous mutation in the POLR3B gene on chromosome 12q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-15T16:15:57Z"^^xsd:string) AnnotationAssertion( "MIM:619742"^^xsd:string) AnnotationAssertion( "CMT1I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1I"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, type 1I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000624"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 1I"^^xsd:string) SubClassOf( ) # Class: (Nonseminomatous Germ Cell Tumor) AnnotationAssertion( "MESH:C537844"^^xsd:string) AnnotationAssertion( "Non-seminomatous germ-cell tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000625"^^xsd:string) AnnotationAssertion(rdfs:label "Nonseminomatous Germ Cell Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Laryngeal Web) AnnotationAssertion( "MIM:150360"^^xsd:string) AnnotationAssertion( "MESH:C563636"^^xsd:string) AnnotationAssertion( "Congenital Anterior Glottic Web"^^xsd:string) AnnotationAssertion( "Subglottic Bar"^^xsd:string) AnnotationAssertion( "Subglottic Web"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000626"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Laryngeal Web"^^xsd:string) SubClassOf( ) # Class: (hemorrhagic stroke) AnnotationAssertion(Annotation( "NCI:C95803"^^xsd:string) "This is an acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-24T16:14:23Z"^^xsd:string) AnnotationAssertion( "EFO:0020921"^^xsd:string) AnnotationAssertion( "Hemorrhagic Cerebrovascular Accident"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000627"^^xsd:string) AnnotationAssertion(rdfs:label "hemorrhagic stroke"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities) AnnotationAssertion(Annotation( "MIM:620113"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by growth retardation, dysmorphic facies, and corpus callosum abnormalities, apparent from infancy. Caused by homozygous mutation in the FRA10AC1 gene on chromosome 10q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-07T07:51:57Z"^^xsd:string) AnnotationAssertion( "MIM:620113"^^xsd:string) AnnotationAssertion( "NEDGFC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000628"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Preauricular Tag, Isolated, Autosomal Dominant, 1) AnnotationAssertion( "A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face."^^xsd:string) AnnotationAssertion( "DOID:9002696"^^xsd:string) AnnotationAssertion( "MIM:610420"^^xsd:string) AnnotationAssertion( "MESH:C566904"^^xsd:string) AnnotationAssertion( "PREAURICULAR SKIN TAG"^^xsd:string) AnnotationAssertion( "accessory auricle"^^xsd:string) AnnotationAssertion( "accessory tragus"^^xsd:string) AnnotationAssertion( "preauricular appendage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000629"^^xsd:string) AnnotationAssertion(rdfs:label "Preauricular Tag, Isolated, Autosomal Dominant, 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lymphoblastic Transformation, Intrinsic Defect in) AnnotationAssertion( "MIM:247450"^^xsd:string) AnnotationAssertion( "MESH:C565431"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000630"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphoblastic Transformation, Intrinsic Defect in"^^xsd:string) SubClassOf( ) # Class: (Hyper-Beta-Alaninemia) AnnotationAssertion( "MIM:237400"^^xsd:string) AnnotationAssertion( "MESH:C562684"^^xsd:string) AnnotationAssertion( "Hyperalaninemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000631"^^xsd:string) AnnotationAssertion(rdfs:label "Hyper-Beta-Alaninemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lowry Wood Syndrome) AnnotationAssertion( "MIM:226960"^^xsd:string) AnnotationAssertion( "MESH:C537038"^^xsd:string) AnnotationAssertion( "LWS"^^xsd:string) AnnotationAssertion( "epiphyseal dysplasia, microcephaly and nystagmus"^^xsd:string) AnnotationAssertion( "multiple epiphyseal dysplasia with microcephaly and retinal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000632"^^xsd:string) AnnotationAssertion(rdfs:label "Lowry Wood Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Interstitial Pregnancy) AnnotationAssertion(Annotation( "MESH:D065167"^^xsd:string) "A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus."^^xsd:string) AnnotationAssertion( "MESH:D065167"^^xsd:string) AnnotationAssertion( "Interstitial Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000633"^^xsd:string) AnnotationAssertion(rdfs:label "Interstitial Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Amelogenesis Imperfecta Hypomaturation Type) AnnotationAssertion( "MESH:C536606"^^xsd:string) AnnotationAssertion( "RDO:0002236"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000634"^^xsd:string) AnnotationAssertion(rdfs:label "Amelogenesis Imperfecta Hypomaturation Type"^^xsd:string) SubClassOf( ) # Class: (Platelet Signal Processing Defect) AnnotationAssertion( "MIM:173590"^^xsd:string) AnnotationAssertion( "MESH:C566796"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000635"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Signal Processing Defect"^^xsd:string) SubClassOf( ) # Class: (USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT) AnnotationAssertion(Annotation( "MIM:619467"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-14T14:41:44Z"^^xsd:string) AnnotationAssertion( "MIM:619467"^^xsd:string) AnnotationAssertion( "USRISD"^^xsd:string) AnnotationAssertion( "autosomal dominant Usmani-Riazzudin syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000636"^^xsd:string) AnnotationAssertion(rdfs:label "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618603"^^xsd:string) "A disease characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T17:21:53Z"^^xsd:string) AnnotationAssertion( "EFO:0010568"^^xsd:string) AnnotationAssertion( "MIM:618603"^^xsd:string) AnnotationAssertion( "NEDHIB"^^xsd:string) AnnotationAssertion( "POLR2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000637"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8, Partial Trisomy) AnnotationAssertion( "MESH:C537941"^^xsd:string) AnnotationAssertion( "RDO:0003863"^^xsd:string) AnnotationAssertion( "Partial trisomy 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000638"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Partial Trisomy"^^xsd:string) SubClassOf( ) # Class: (COACH Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T10:41:20Z"^^xsd:string) AnnotationAssertion( "MIM:216360"^^xsd:string) AnnotationAssertion( "COACH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000639"^^xsd:string) AnnotationAssertion(rdfs:label "COACH Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Giant Cell Granuloma) AnnotationAssertion( "A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw."^^xsd:string) AnnotationAssertion( "MESH:D006101"^^xsd:string) AnnotationAssertion( "Giant Cell Epulis"^^xsd:string) AnnotationAssertion( "Giant Cell Granulomas"^^xsd:string) AnnotationAssertion( "giant cell epulides"^^xsd:string) AnnotationAssertion( "peripheral giant cell granuloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000640"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Cell Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pain) AnnotationAssertion(Annotation( "MESH:D010146"^^xsd:string) "An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS."^^xsd:string) AnnotationAssertion( "EFO:0003843"^^xsd:string) AnnotationAssertion( "MESH:D010146"^^xsd:string) AnnotationAssertion( "Ache"^^xsd:string) AnnotationAssertion( "Burning Pain"^^xsd:string) AnnotationAssertion( "Crushing Pain"^^xsd:string) AnnotationAssertion( "Crushing Pains"^^xsd:string) AnnotationAssertion( "Migratory Pain"^^xsd:string) AnnotationAssertion( "Migratory Pains"^^xsd:string) AnnotationAssertion( "Physical Suffering"^^xsd:string) AnnotationAssertion( "Physical Sufferings"^^xsd:string) AnnotationAssertion( "Radiating Pain"^^xsd:string) AnnotationAssertion( "Radiating Pains"^^xsd:string) AnnotationAssertion( "aches"^^xsd:string) AnnotationAssertion( "burning pains"^^xsd:string) AnnotationAssertion( "splitting pain"^^xsd:string) AnnotationAssertion( "splitting pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000641"^^xsd:string) AnnotationAssertion(rdfs:label "Pain"^^xsd:string) SubClassOf( ) # Class: (Lymphedema and Cerebral Arteriovenous Anomaly) AnnotationAssertion( "MIM:152900"^^xsd:string) AnnotationAssertion( "MESH:C563612"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000642"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphedema and Cerebral Arteriovenous Anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Hyperaldosteronism, Type III) AnnotationAssertion( "GARD:12362"^^xsd:string) AnnotationAssertion( "MIM:613677"^^xsd:string) AnnotationAssertion( "MONDO:0013359"^^xsd:string) AnnotationAssertion( "ORDO:251274"^^xsd:string) AnnotationAssertion( "FH III"^^xsd:string) AnnotationAssertion( "FH3"^^xsd:string) AnnotationAssertion( "HALD3"^^xsd:string) AnnotationAssertion( "familial hyperaldosteronism type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000644"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperaldosteronism, Type III"^^xsd:string) SubClassOf( ) # Class: (Rotavirus Infections) AnnotationAssertion(Annotation( "MESH:D012400"^^xsd:string) "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice."^^xsd:string) AnnotationAssertion( "RDO:0006509"^^xsd:string) AnnotationAssertion( "EFO:0002622"^^xsd:string) AnnotationAssertion( "MESH:D012400"^^xsd:string) AnnotationAssertion( "Rotavirus Infection"^^xsd:string) AnnotationAssertion( "Rotavirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000645"^^xsd:string) AnnotationAssertion(rdfs:label "Rotavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia 49) AnnotationAssertion(Annotation( "MIM:619806"^^xsd:string) "An autosomal dominant neurologic disorder characterized initially by gait abnormalities, gaze-evoked nystagmus, and hyperreflexia. Caused by heterozygous mutation in the SAMD9L gene on chromosome 7q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T12:08:51Z"^^xsd:string) AnnotationAssertion( "MIM:619806"^^xsd:string) AnnotationAssertion( "SCA49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000646"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 49"^^xsd:string) SubClassOf( ) # Class: (Acute Erythroleukemia) AnnotationAssertion( "EFO:0000218"^^xsd:string) AnnotationAssertion( "MESH:C535673"^^xsd:string) AnnotationAssertion( "RDO:0000926"^^xsd:string) AnnotationAssertion( "Acute erythroleukemia - M6a subtype"^^xsd:string) AnnotationAssertion( "Acute erythroleukemia - M6b subtype"^^xsd:string) AnnotationAssertion( "Acute myeloid leukemia FAB-M6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000647"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Erythroleukemia"^^xsd:string) SubClassOf( ) # Class: (Malformed Nails) AnnotationAssertion(Annotation( "MESH:D009264"^^xsd:string) "Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails."^^xsd:string) AnnotationAssertion( "MESH:D009264"^^xsd:string) AnnotationAssertion( "Abnormal Nail"^^xsd:string) AnnotationAssertion( "Malformed Nail"^^xsd:string) AnnotationAssertion( "Nail Abnormalities"^^xsd:string) AnnotationAssertion( "Nail Abnormality"^^xsd:string) AnnotationAssertion( "abnormal nails"^^xsd:string) AnnotationAssertion( "pachyonychia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000648"^^xsd:string) AnnotationAssertion(rdfs:label "Malformed Nails"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal Thyroid Hormone Metabolism 2) AnnotationAssertion(Annotation( "MIM:619855"^^xsd:string) "Characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Caused by heterozygous mutation in the DIO1 gene on chromosome 1p32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-26T10:47:11Z"^^xsd:string) AnnotationAssertion( "MIM:619855"^^xsd:string) AnnotationAssertion( "THMA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000651"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Thyroid Hormone Metabolism 2"^^xsd:string) SubClassOf( ) # Class: (Cardiac Conduction Disease with or without Dilated Cardiomyopathy) AnnotationAssertion( "CCDD is caused by heterozygous mutation in the TNNI3K gene (613932) on chromosome 1p31. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616117"^^xsd:string) AnnotationAssertion( "RDO:9000809"^^xsd:string) AnnotationAssertion( "CCDD"^^xsd:string) AnnotationAssertion( "TNNI3K-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000652"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Conduction Disease with or without Dilated Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lactic Aciduria due to D-Lactic Acid) AnnotationAssertion( "DLACD is caused by homozygous mutation in the LDHD gene on chromosome 16q23. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:245450"^^xsd:string) AnnotationAssertion( "MESH:C565446"^^xsd:string) AnnotationAssertion( "D-LACTIC ACIDURIA"^^xsd:string) AnnotationAssertion( "D-lactic aciduria with gout"^^xsd:string) AnnotationAssertion( "DLACD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000653"^^xsd:string) AnnotationAssertion(rdfs:label "Lactic Aciduria due to D-Lactic Acid"^^xsd:string) SubClassOf( ) # Class: (Aortic Aneurysm, Familial Abdominal 1) AnnotationAssertion( "MIM:100070"^^xsd:string) AnnotationAssertion( "RDO:0007862"^^xsd:string) AnnotationAssertion( "RDO:0013932"^^xsd:string) AnnotationAssertion( "MESH:C565230"^^xsd:string) AnnotationAssertion( "AAA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000654"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Aneurysm, Familial Abdominal 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Penetrating Wounds) AnnotationAssertion(Annotation( "MESH:D014950"^^xsd:string) "Wounds caused by objects penetrating the skin."^^xsd:string) AnnotationAssertion( "MESH:D014950"^^xsd:string) AnnotationAssertion( "Penetrating Wound"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000656"^^xsd:string) AnnotationAssertion(rdfs:label "Penetrating Wounds"^^xsd:string) SubClassOf( ) # Class: (Glassy Cell Carcinoma of the Cervix) AnnotationAssertion( "MESH:C536823"^^xsd:string) AnnotationAssertion( "RDO:0002516"^^xsd:string) AnnotationAssertion( "Glassy cell adenocarcinoma of the uterine cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000657"^^xsd:string) AnnotationAssertion(rdfs:label "Glassy Cell Carcinoma of the Cervix"^^xsd:string) SubClassOf( ) # Class: (Leigh Syndrome due to Mitochondrial Complex IV Deficiency) AnnotationAssertion( "EFO:0009135"^^xsd:string) AnnotationAssertion( "MESH:C564963"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000658"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome due to Mitochondrial Complex IV Deficiency"^^xsd:string) SubClassOf( ) # Class: (Heavy Metal Toxicity) AnnotationAssertion( "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of HEAVY METALS. Acute and chronic exposures can cause ANEMIA; KIDNEY and LIVER damage; PULMONARY EDEMA; MEMORY LOSS and behavioral changes; bone deformities in children; and MISCARRIAGE or PREMATURE LABOR in pregnant women. (MESH)"^^xsd:string) AnnotationAssertion( "EFO:1001518"^^xsd:string) AnnotationAssertion( "MESH:D000075322"^^xsd:string) AnnotationAssertion( "chronic heavy metal poisoning"^^xsd:string) AnnotationAssertion( "heavy metal poisoning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000659"^^xsd:string) AnnotationAssertion(rdfs:label "Heavy Metal Toxicity"^^xsd:string) SubClassOf( ) # Class: (Choristoma) AnnotationAssertion(Annotation( "MESH:D002828"^^xsd:string) "A mass of histologically normal tissue present in an abnormal location."^^xsd:string) AnnotationAssertion( "MESH:D002828"^^xsd:string) AnnotationAssertion( "Aberrant Tissue"^^xsd:string) AnnotationAssertion( "Aberrant Tissues"^^xsd:string) AnnotationAssertion( "Choristomas"^^xsd:string) AnnotationAssertion( "Ectopic Tissue"^^xsd:string) AnnotationAssertion( "Ectopic Tissues"^^xsd:string) AnnotationAssertion( "Heterotopic Tissue"^^xsd:string) AnnotationAssertion( "Heterotopic Tissues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000660"^^xsd:string) AnnotationAssertion(rdfs:label "Choristoma"^^xsd:string) SubClassOf( ) # Class: (Le Marec Bracq Picaud Syndrome) AnnotationAssertion( "A very rare syndrome characterized mainly by a large head, short arms and clubfoot."^^xsd:string) AnnotationAssertion( "MESH:C536997"^^xsd:string) AnnotationAssertion( "RDO:0002734"^^xsd:string) AnnotationAssertion( "Complex malformation syndrome with brachymesomelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000661"^^xsd:string) AnnotationAssertion(rdfs:label "Le Marec Bracq Picaud Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Warburg-Cinotti Syndrome) AnnotationAssertion(Annotation( "MIM:618175"^^xsd:string) "A disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-17T18:43:56Z"^^xsd:string) AnnotationAssertion( "EFO:0010166"^^xsd:string) AnnotationAssertion( "MIM:618175"^^xsd:string) AnnotationAssertion( "WRCN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000662"^^xsd:string) AnnotationAssertion(rdfs:label "Warburg-Cinotti Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Thoracic Aortic Aneurysm 4) AnnotationAssertion( "MIM:132900"^^xsd:string) AnnotationAssertion( "MESH:C537784"^^xsd:string) AnnotationAssertion( "AAT4"^^xsd:string) AnnotationAssertion( "Aortic aneurysm-aortic dissection and patent ductus arteriosus"^^xsd:string) AnnotationAssertion( "FAA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000664"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Raine Syndrome) AnnotationAssertion( "DOID:9002952"^^xsd:string) AnnotationAssertion( "MESH:C564916"^^xsd:string) AnnotationAssertion( "MIM:259775"^^xsd:string) AnnotationAssertion( "MESH:C535282"^^xsd:string) AnnotationAssertion( "CSOCC"^^xsd:string) AnnotationAssertion( "FAM20C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Lethal osteosclerotic bone dysplasia"^^xsd:string) AnnotationAssertion( "RNS"^^xsd:string) AnnotationAssertion( "sclerosing osteomalacia with cerebral calcification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000666"^^xsd:string) AnnotationAssertion(rdfs:label "Raine Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Plasminogen Deficiency) AnnotationAssertion( "MESH:C580017"^^xsd:string) AnnotationAssertion( "RDO:0015877"^^xsd:string) AnnotationAssertion( "Hypoplasminogenemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000667"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Plasminogen Deficiency"^^xsd:string) SubClassOf( ) # Class: (Nizon-Isidor Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T16:04:37Z"^^xsd:string) AnnotationAssertion( "MIM:618872"^^xsd:string) AnnotationAssertion( "MED12L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NIZIDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000668"^^xsd:string) AnnotationAssertion(rdfs:label "Nizon-Isidor Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ventricular Dysfunction, Right) AnnotationAssertion(Annotation( "MESH:D018497"^^xsd:string) "A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall."^^xsd:string) AnnotationAssertion( "MESH:D018497"^^xsd:string) AnnotationAssertion( "RDO:0007214"^^xsd:string) AnnotationAssertion( "Right Ventricular Dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000669"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Dysfunction, Right"^^xsd:string) SubClassOf( ) # Class: (Ileal Neoplasms) AnnotationAssertion(Annotation( "MESH:D007078"^^xsd:string) "Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-16T06:22:01Z"^^xsd:string) AnnotationAssertion( "EFO:1000981"^^xsd:string) AnnotationAssertion( "MESH:D007078"^^xsd:string) AnnotationAssertion( "NCI:C3130"^^xsd:string) AnnotationAssertion( "ileal neoplasm"^^xsd:string) AnnotationAssertion( "ileal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000670"^^xsd:string) AnnotationAssertion(rdfs:label "Ileal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thakker Donnai Syndrome) AnnotationAssertion( "MESH:C536503"^^xsd:string) AnnotationAssertion( "Dysmorphic facial features and multiple structural abnormalities"^^xsd:string) AnnotationAssertion( "Dysmorphism multiple structural anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000671"^^xsd:string) AnnotationAssertion(rdfs:label "Thakker Donnai Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunoblastic Large-Cell Lymphoma) AnnotationAssertion(Annotation( "MESH:D016400"^^xsd:string) "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan."^^xsd:string) AnnotationAssertion( "MESH:D016400"^^xsd:string) AnnotationAssertion( "Diffuse Immunoblastic Lymphosarcoma"^^xsd:string) AnnotationAssertion( "Diffuse Immunoblastic Lymphosarcomas"^^xsd:string) AnnotationAssertion( "Immunoblastic Large-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "Immunoblastic Sarcoma"^^xsd:string) AnnotationAssertion( "Immunoblastic Sarcomas"^^xsd:string) AnnotationAssertion( "Immunoblastoma"^^xsd:string) AnnotationAssertion( "Immunoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000672"^^xsd:string) AnnotationAssertion(rdfs:label "Immunoblastic Large-Cell Lymphoma"^^xsd:string) SubClassOf( ) # Class: (Actinomycetales Infections) AnnotationAssertion(Annotation( "MESH:D000193"^^xsd:string) "Infections with bacteria of the order ACTINOMYCETALES."^^xsd:string) AnnotationAssertion( "EFO:1001122"^^xsd:string) AnnotationAssertion( "MESH:D000193"^^xsd:string) AnnotationAssertion( "RDO:0004726"^^xsd:string) AnnotationAssertion( "Actinomycetales Infection"^^xsd:string) AnnotationAssertion( "Actinomycete Infection"^^xsd:string) AnnotationAssertion( "Actinomycete Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000673"^^xsd:string) AnnotationAssertion(rdfs:label "Actinomycetales Infections"^^xsd:string) SubClassOf( ) # Class: (Agenesis of Gallbladder) AnnotationAssertion( "MIM:137040"^^xsd:string) AnnotationAssertion( "MESH:C562564"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000674"^^xsd:string) AnnotationAssertion(rdfs:label "Agenesis of Gallbladder"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Sparse Hair Mental Retardation Seizures) AnnotationAssertion( "MESH:C537545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000675"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Sparse Hair Mental Retardation Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tumor Predisposition Syndrome 2) AnnotationAssertion(Annotation( "MIM:619975"^^xsd:string) "An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. Caused by homozygous or compound heterozygous germline mutation in the MBD4 gene on chromosome 3q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-08T11:22:37Z"^^xsd:string) AnnotationAssertion( "MIM:619975"^^xsd:string) AnnotationAssertion( "MANS"^^xsd:string) AnnotationAssertion( "MBD4-ASSOCIATED NEOPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "TPDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000676"^^xsd:string) AnnotationAssertion(rdfs:label "Tumor Predisposition Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome, Beasley Cohen Type) AnnotationAssertion( "MIM:608763"^^xsd:string) AnnotationAssertion( "MESH:C536199"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000677"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome, Beasley Cohen Type"^^xsd:string) SubClassOf( ) # Class: (Duker Weiss Siber syndrome) AnnotationAssertion( "RDO:0000991"^^xsd:string) AnnotationAssertion( "MESH:C535719"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000678"^^xsd:string) AnnotationAssertion(rdfs:label "Duker Weiss Siber syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leigh Syndrome due to Mitochondrial Complex III Deficiency) AnnotationAssertion( "MESH:C564962"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000679"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome due to Mitochondrial Complex III Deficiency"^^xsd:string) SubClassOf( ) # Class: (Subacute Necrotizing Encephalopathy of Leigh, Infantile) AnnotationAssertion( "MESH:C538590"^^xsd:string) AnnotationAssertion( "RDO:0004518"^^xsd:string) AnnotationAssertion( "Leigh's necrotizing encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000680"^^xsd:string) AnnotationAssertion(rdfs:label "Subacute Necrotizing Encephalopathy of Leigh, Infantile"^^xsd:string) SubClassOf( ) # Class: (Elimination Disorders) AnnotationAssertion(Annotation( "MESH:D019960"^^xsd:string) "Excretory-related psychiatric disorders usually diagnosed in infancy or childhood."^^xsd:string) AnnotationAssertion( "MESH:D019960"^^xsd:string) AnnotationAssertion( "RDO:0005480"^^xsd:string) AnnotationAssertion( "Elimination Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000681"^^xsd:string) AnnotationAssertion(rdfs:label "Elimination Disorders"^^xsd:string) SubClassOf( ) # Class: (Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome) AnnotationAssertion( "VSX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614195"^^xsd:string) AnnotationAssertion( "RDO:9000256"^^xsd:string) AnnotationAssertion( "CAASDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000682"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness) AnnotationAssertion( "MIM:267300"^^xsd:string) AnnotationAssertion( "MESH:C562897"^^xsd:string) AnnotationAssertion( "DRTA2"^^xsd:string) AnnotationAssertion( "RTA with progressive deafness"^^xsd:string) AnnotationAssertion( "Renal Tubular Acidosis with Progressive Nerve Deafness"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis with progressive deafness"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis with progressive nerve deafness"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis with progressive sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "renal tubular acidosis, autosomal recessive, with progressive nerve deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000683"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Porcine Reproductive and Respiratory Syndrome) AnnotationAssertion(Annotation( "MESH:D019318"^^xsd:string) "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)"^^xsd:string) AnnotationAssertion( "MESH:D019318"^^xsd:string) AnnotationAssertion( "RDO:0007269"^^xsd:string) AnnotationAssertion( "Blue Eared Pig Disease"^^xsd:string) AnnotationAssertion( "Mystery Swine Disease"^^xsd:string) AnnotationAssertion( "PRRS"^^xsd:string) AnnotationAssertion( "Porcine Epidemic Abortion and Respiratory Syndrome"^^xsd:string) AnnotationAssertion( "Swine Infertility and Respiratory Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000684"^^xsd:string) AnnotationAssertion(rdfs:label "Porcine Reproductive and Respiratory Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chondromatosis) AnnotationAssertion(Annotation( "MESH:D018210"^^xsd:string) "Multiple formation of chondromas. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018210"^^xsd:string) AnnotationAssertion( "Chondromatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000685"^^xsd:string) AnnotationAssertion(rdfs:label "Chondromatosis"^^xsd:string) SubClassOf( ) # Class: (Striatonigral Degeneration, Childhood-Onset) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617054"^^xsd:string) AnnotationAssertion( "LENK-PLOSKI SYNDROME"^^xsd:string) AnnotationAssertion( "SNDC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000686"^^xsd:string) AnnotationAssertion(rdfs:label "Striatonigral Degeneration, Childhood-Onset"^^xsd:string) SubClassOf( ) # Class: (Torticollis Keloids Cryptorchidism Renal Dysplasia) AnnotationAssertion( "MIM:314300"^^xsd:string) AnnotationAssertion( "MESH:C536970"^^xsd:string) AnnotationAssertion( "Goeminne syndrome"^^xsd:string) AnnotationAssertion( "TKC"^^xsd:string) AnnotationAssertion( "TKCR"^^xsd:string) AnnotationAssertion( "TKCR SYNDROME"^^xsd:string) AnnotationAssertion( "Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000687"^^xsd:string) AnnotationAssertion(rdfs:label "Torticollis Keloids Cryptorchidism Renal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia) AnnotationAssertion( "MIM:605040"^^xsd:string) AnnotationAssertion( "MESH:C565729"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000691"^^xsd:string) AnnotationAssertion(rdfs:label "Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia"^^xsd:string) SubClassOf( ) # Class: (Megarbane Syndrome) AnnotationAssertion( "MIM:606527"^^xsd:string) AnnotationAssertion( "MESH:C536145"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000692"^^xsd:string) AnnotationAssertion(rdfs:label "Megarbane Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Complex III Deficiency Nuclear Type 10) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-17T11:06:05Z"^^xsd:string) AnnotationAssertion( "MIM:618775"^^xsd:string) AnnotationAssertion( "MC3DN10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000693"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex III Deficiency Nuclear Type 10"^^xsd:string) SubClassOf( ) # Class: (Brain Stem Hemorrhage, Traumatic) AnnotationAssertion(Annotation( "MESH:D020203"^^xsd:string) "Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA."^^xsd:string) AnnotationAssertion( "EFO:1001276"^^xsd:string) AnnotationAssertion( "MESH:D020203"^^xsd:string) AnnotationAssertion( "RDO:0007343"^^xsd:string) AnnotationAssertion( "Post Traumatic Brain Stem Hemorrhage"^^xsd:string) AnnotationAssertion( "Post Traumatic Brainstem Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Brain Stem Hematoma"^^xsd:string) AnnotationAssertion( "Traumatic Brainstem Hematoma"^^xsd:string) AnnotationAssertion( "Traumatic Brainstem Hematomas"^^xsd:string) AnnotationAssertion( "Traumatic Brainstem Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Bulbar Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Medullary Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Midbrain Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Pontine Hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000694"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Stem Hemorrhage, Traumatic"^^xsd:string) SubClassOf( ) # Class: (Sharma Kapoor Ramji Syndrome) AnnotationAssertion( "MESH:C537595"^^xsd:string) AnnotationAssertion( "RDO:0003466"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000695"^^xsd:string) AnnotationAssertion(rdfs:label "Sharma Kapoor Ramji Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Citrulline Transport Defect) AnnotationAssertion( "MIM:215720"^^xsd:string) AnnotationAssertion( "MESH:C536207"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000696"^^xsd:string) AnnotationAssertion(rdfs:label "Citrulline Transport Defect"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oculopalatocerebral Syndrome) AnnotationAssertion( "MIM:257910"^^xsd:string) AnnotationAssertion( "MESH:C564935"^^xsd:string) AnnotationAssertion( "RDO:0013727"^^xsd:string) AnnotationAssertion( "OPC DWARFISM"^^xsd:string) AnnotationAssertion( "Oculopalatocerebral Dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000698"^^xsd:string) AnnotationAssertion(rdfs:label "Oculopalatocerebral Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B) AnnotationAssertion( "RDO:0001510"^^xsd:string) AnnotationAssertion( "MESH:C536083"^^xsd:string) AnnotationAssertion( "Apolipoprotein B 100, Familial Ligand Defective"^^xsd:string) AnnotationAssertion( "apolipoprotein B 100, familial defective"^^xsd:string) AnnotationAssertion( "hypercholesterolemia due to arg3500 mutation of Apo B-100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000699"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B"^^xsd:string) SubClassOf( ) # Class: (Feline Leukemia) AnnotationAssertion(Annotation( "MESH:D016582"^^xsd:string) "A neoplastic disease of cats frequently associated with feline leukemia virus infection."^^xsd:string) AnnotationAssertion( "MESH:D016582"^^xsd:string) AnnotationAssertion( "Feline Leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000700"^^xsd:string) AnnotationAssertion(rdfs:label "Feline Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acetyl-Coa Carboxylase Deficiency) AnnotationAssertion( "MIM:613933"^^xsd:string) AnnotationAssertion( "MESH:C562678"^^xsd:string) AnnotationAssertion( "ACACA Deficiency"^^xsd:string) AnnotationAssertion( "ACACAD"^^xsd:string) AnnotationAssertion( "ACC1 Deficiency"^^xsd:string) AnnotationAssertion( "acetyl-CoA carboxylase-alpha deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000701"^^xsd:string) AnnotationAssertion(rdfs:label "Acetyl-Coa Carboxylase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Stuve-Wiedemann Syndrome 2) AnnotationAssertion(Annotation( "MIM:619751"^^xsd:string) "This disease is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-28T16:42:55Z"^^xsd:string) AnnotationAssertion( "MIM:619751"^^xsd:string) AnnotationAssertion( "STWS2"^^xsd:string) AnnotationAssertion( "STÜVE-WIEDEMANN SYNDROME 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000702"^^xsd:string) AnnotationAssertion(rdfs:label "Stuve-Wiedemann Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification) AnnotationAssertion( "MIM:210050"^^xsd:string) AnnotationAssertion( "MESH:C565905"^^xsd:string) AnnotationAssertion( "Cerebral Aneurysm-Cirrhosis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000703"^^xsd:string) AnnotationAssertion(rdfs:label "Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lingual Thyroids) AnnotationAssertion(Annotation( "MESH:D046151"^^xsd:string) "A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM."^^xsd:string) AnnotationAssertion( "EFO:1001803"^^xsd:string) AnnotationAssertion( "MESH:D046151"^^xsd:string) AnnotationAssertion( "lingual thyroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000704"^^xsd:string) AnnotationAssertion(rdfs:label "Lingual Thyroids"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nonfunctional L-Gulonolactone Oxidase) AnnotationAssertion( "MESH:C565486"^^xsd:string) AnnotationAssertion( "nonfunctional gulo"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000706"^^xsd:string) AnnotationAssertion(rdfs:label "Nonfunctional L-Gulonolactone Oxidase"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 16) AnnotationAssertion( "MIM:617234"^^xsd:string) AnnotationAssertion( "OZEMA16"^^xsd:string) AnnotationAssertion( "PREMBL2"^^xsd:string) AnnotationAssertion( "Preimplantation Embryonic Lethality 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000708"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 16"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Ochronosis) AnnotationAssertion( "MESH:C537862"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000709"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Ochronosis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 7 Ring Syndrome) AnnotationAssertion( "MESH:C537813"^^xsd:string) AnnotationAssertion( "Ring chromosome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000710"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7 Ring Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000711"^^xsd:string) AnnotationAssertion(rdfs:label "Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trochlea of the Humerus, Aplasia of) AnnotationAssertion( "MIM:191000"^^xsd:string) AnnotationAssertion( "MESH:C566022"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000712"^^xsd:string) AnnotationAssertion(rdfs:label "Trochlea of the Humerus, Aplasia of"^^xsd:string) SubClassOf( ) # Class: (Surgical Wound) AnnotationAssertion(Annotation( "MESH:D000072836"^^xsd:string) "An incision made during a surgical procedure."^^xsd:string) AnnotationAssertion( "MESH:D000072836"^^xsd:string) AnnotationAssertion( "Surgical Incision"^^xsd:string) AnnotationAssertion( "Surgical Incisions"^^xsd:string) AnnotationAssertion( "Surgical Wounds"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000713"^^xsd:string) AnnotationAssertion(rdfs:label "Surgical Wound"^^xsd:string) SubClassOf( ) # Class: (COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS) AnnotationAssertion( "MIM:617306"^^xsd:string) AnnotationAssertion( "COMMAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000714"^^xsd:string) AnnotationAssertion(rdfs:label "COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Suppressor of Tumorigenicity 3) AnnotationAssertion( "RDO:0008191"^^xsd:string) AnnotationAssertion( "MIM:191181"^^xsd:string) AnnotationAssertion( "CCTS"^^xsd:string) AnnotationAssertion( "CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN"^^xsd:string) AnnotationAssertion( "ST3"^^xsd:string) AnnotationAssertion( "TSHL"^^xsd:string) AnnotationAssertion( "TUMOR-SUPPRESSOR GENE, HELA CELL TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000715"^^xsd:string) AnnotationAssertion(rdfs:label "Suppressor of Tumorigenicity 3"^^xsd:string) SubClassOf( ) # Class: (Immersion Foot) AnnotationAssertion(Annotation( "MESH:D007102"^^xsd:string) "A condition of the feet produced by prolonged exposure of the feet to water. Exposure for 48 hours or more to warm water causes tropical immersion foot or warm-water immersion foot common in Vietnam where troops were exposed to prolonged or repeated wading in paddy fields or streams. Trench foot results from prolonged exposure to cold, without actual freezing. It was common in trench warfare during World War I, when soldiers stood, sometimes for hours, in trenches with a few inches of cold water in them. (Andrews' Diseases of the Skin, 8th ed, p27)"^^xsd:string) AnnotationAssertion( "MESH:D007102"^^xsd:string) AnnotationAssertion( "Immersion Feet"^^xsd:string) AnnotationAssertion( "Trench Feet"^^xsd:string) AnnotationAssertion( "Trench Foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000716"^^xsd:string) AnnotationAssertion(rdfs:label "Immersion Foot"^^xsd:string) SubClassOf( ) # Class: (Familial Multiple Coagulation Factor Deficiency I) AnnotationAssertion( "MIM:227300"^^xsd:string) AnnotationAssertion( "MIM:227310"^^xsd:string) AnnotationAssertion( "MESH:C565577"^^xsd:string) AnnotationAssertion( "F5F8D"^^xsd:string) AnnotationAssertion( "F5F8D1"^^xsd:string) AnnotationAssertion( "FMFD I"^^xsd:string) AnnotationAssertion( "FMFD1"^^xsd:string) AnnotationAssertion( "Factor V And Factor VIII, Combined Deficiency Of"^^xsd:string) AnnotationAssertion( "Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor"^^xsd:string) AnnotationAssertion( "MCFD1"^^xsd:string) AnnotationAssertion( "multiple coagulation factor deficiency I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000717"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Coagulation Factor Deficiency I"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ovalocytosis, Hereditary Hemolytic) AnnotationAssertion( "MESH:C563480"^^xsd:string) AnnotationAssertion( "RDO:0012725"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000718"^^xsd:string) AnnotationAssertion(rdfs:label "Ovalocytosis, Hereditary Hemolytic"^^xsd:string) SubClassOf( ) # Class: (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-28T13:25:32Z"^^xsd:string) AnnotationAssertion( "MIM:249210"^^xsd:string) AnnotationAssertion( "MMIHS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000719"^^xsd:string) AnnotationAssertion(rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Tetramelic Monodactyly) AnnotationAssertion( "MIM:187510"^^xsd:string) AnnotationAssertion( "GARD:3707"^^xsd:string) AnnotationAssertion( "MESH:C566066"^^xsd:string) AnnotationAssertion( "MONDO:0008544"^^xsd:string) AnnotationAssertion( "ORDO:2564"^^xsd:string) AnnotationAssertion( "Sommer-Hines syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000720"^^xsd:string) AnnotationAssertion(rdfs:label "Tetramelic Monodactyly"^^xsd:string) SubClassOf( ) # Class: (Chromosome 2, Trisomy 2p13 p21) AnnotationAssertion( "MESH:C535365"^^xsd:string) AnnotationAssertion( "RDO:0000447"^^xsd:string) AnnotationAssertion( "Duplication 2p13 p21"^^xsd:string) AnnotationAssertion( "Trisomy 2p13 p21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000721"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Trisomy 2p13 p21"^^xsd:string) SubClassOf( ) # Class: (Animal Hepatitis) AnnotationAssertion(Annotation( "MESH:D006520"^^xsd:string) "INFLAMMATION of the LIVER in non-human animals."^^xsd:string) AnnotationAssertion( "MESH:D006520"^^xsd:string) AnnotationAssertion( "animal hepatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000722"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Female Urogenital Diseases and Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D005261"^^xsd:string) "Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY."^^xsd:string) AnnotationAssertion( "MESH:D005261"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000723"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Female Urogenital Diseases and Pregnancy Complications"^^xsd:string) SubClassOf( ) # Class: (Corneodermatoosseous Syndrome) AnnotationAssertion( "MIM:122440"^^xsd:string) AnnotationAssertion( "MESH:C536444"^^xsd:string) AnnotationAssertion( "CDO syndrome"^^xsd:string) AnnotationAssertion( "Epithelial corneal dystrophy and short stature"^^xsd:string) AnnotationAssertion( "Epithelial corneal dystrophy with skin and skeletal changes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000724"^^xsd:string) AnnotationAssertion(rdfs:label "Corneodermatoosseous Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies) AnnotationAssertion( "MIM:614416"^^xsd:string) AnnotationAssertion( "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"^^xsd:string) AnnotationAssertion( "RHFCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000725"^^xsd:string) AnnotationAssertion(rdfs:label "Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bardet-Biedl Syndrome 2/6, Digenic) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000726"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl Syndrome 2/6, Digenic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Syncope) AnnotationAssertion(Annotation( "MESH:D013575"^^xsd:string) "A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"^^xsd:string) AnnotationAssertion( "MESH:D013575"^^xsd:string) AnnotationAssertion( "Cardiogenic Syncope"^^xsd:string) AnnotationAssertion( "Cardiogenic Syncopes"^^xsd:string) AnnotationAssertion( "Carotid Sinus Syncope"^^xsd:string) AnnotationAssertion( "Carotid Sinus Syncopes"^^xsd:string) AnnotationAssertion( "Convulsive Syncope"^^xsd:string) AnnotationAssertion( "Convulsive Syncopes"^^xsd:string) AnnotationAssertion( "Deglutitional Syncope"^^xsd:string) AnnotationAssertion( "Deglutitional Syncopes"^^xsd:string) AnnotationAssertion( "Drop Attack"^^xsd:string) AnnotationAssertion( "Drop Attacks"^^xsd:string) AnnotationAssertion( "Effort Syncope"^^xsd:string) AnnotationAssertion( "Effort Syncopes"^^xsd:string) AnnotationAssertion( "Fainting"^^xsd:string) AnnotationAssertion( "Hyperventilation Syncope"^^xsd:string) AnnotationAssertion( "Hyperventilation Syncopes"^^xsd:string) AnnotationAssertion( "Micturition Syncope"^^xsd:string) AnnotationAssertion( "Micturition Syncopes"^^xsd:string) AnnotationAssertion( "Postural Syncope"^^xsd:string) AnnotationAssertion( "Postural Syncopes"^^xsd:string) AnnotationAssertion( "Presyncope"^^xsd:string) AnnotationAssertion( "Presyncopes"^^xsd:string) AnnotationAssertion( "Situational Syncope"^^xsd:string) AnnotationAssertion( "Situational Syncopes"^^xsd:string) AnnotationAssertion( "Stokes-Adams Syncope"^^xsd:string) AnnotationAssertion( "Stokes-Adams Syncopes"^^xsd:string) AnnotationAssertion( "Syncopal Episode"^^xsd:string) AnnotationAssertion( "Syncopal Episodes"^^xsd:string) AnnotationAssertion( "Syncopal Vertigo"^^xsd:string) AnnotationAssertion( "Syncopes"^^xsd:string) AnnotationAssertion( "Tussive Syncope"^^xsd:string) AnnotationAssertion( "Tussive Syncopes"^^xsd:string) AnnotationAssertion( "Vertigos, Syncopal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000727"^^xsd:string) AnnotationAssertion(rdfs:label "Syncope"^^xsd:string) SubClassOf( ) # Class: (Traumatic Shock) AnnotationAssertion(Annotation( "MESH:D012774"^^xsd:string) "Shock produced as a result of trauma."^^xsd:string) AnnotationAssertion( "MESH:D012774"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000728"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Shock"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-15T14:24:00Z"^^xsd:string) AnnotationAssertion( "ClinVar:VCV000983267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000729"^^xsd:string) AnnotationAssertion(rdfs:label "OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Al-Gazali Syndrome) AnnotationAssertion( "MIM:609465"^^xsd:string) AnnotationAssertion( "MESH:C536817"^^xsd:string) AnnotationAssertion( "ALGAZ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000730"^^xsd:string) AnnotationAssertion(rdfs:label "Al-Gazali Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cone-Rod Dystrophy and Hearing Loss) AnnotationAssertion( "EFO:0009151"^^xsd:string) AnnotationAssertion( "MIM:PS617236"^^xsd:string) AnnotationAssertion( "CRDHL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000732"^^xsd:string) AnnotationAssertion(rdfs:label "Cone-Rod Dystrophy and Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 40) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging. Caused by compound heterozygous mutation in the IFT74 gene on chromosome 9p21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-27T16:47:15Z"^^xsd:string) AnnotationAssertion( "MIM:619582"^^xsd:string) AnnotationAssertion( "JBTS40"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000733"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 40"^^xsd:string) SubClassOf( ) # Class: (Oligomenorrhea) AnnotationAssertion(Annotation( "MESH:D009839"^^xsd:string) "Abnormally infrequent menstruation."^^xsd:string) AnnotationAssertion( "MESH:D009839"^^xsd:string) AnnotationAssertion( "Oligomenorrheas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000734"^^xsd:string) AnnotationAssertion(rdfs:label "Oligomenorrhea"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 4q- Syndrome) AnnotationAssertion( "MESH:C537639"^^xsd:string) AnnotationAssertion( "Chromosome 4 Long Arm Deletion"^^xsd:string) AnnotationAssertion( "Chromosome 4, monosomy 4q"^^xsd:string) AnnotationAssertion( "Deletion 4q"^^xsd:string) AnnotationAssertion( "Monosomy 4q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000736"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4q- Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Anemia without Thrombocytopenia) AnnotationAssertion( "RDO:0013397"^^xsd:string) AnnotationAssertion( "MESH:C564429"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000737"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Anemia without Thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY) AnnotationAssertion(Annotation( "MIM:619234"^^xsd:string) "This is a disease characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-15T12:31:02Z"^^xsd:string) AnnotationAssertion( "MIM:619234"^^xsd:string) AnnotationAssertion( "POLR3GL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SOFM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000738"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Burkholderia Infections) AnnotationAssertion(Annotation( "MESH:D019121"^^xsd:string) "Infections with bacteria of the genus BURKHOLDERIA."^^xsd:string) AnnotationAssertion( "EFO:1001280"^^xsd:string) AnnotationAssertion( "MESH:D019121"^^xsd:string) AnnotationAssertion( "Burkholderia Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000739"^^xsd:string) AnnotationAssertion(rdfs:label "Burkholderia Infections"^^xsd:string) SubClassOf( ) # Class: (ST Elevation Myocardial Infarction) AnnotationAssertion(Annotation( "MESH:D000072657"^^xsd:string) "A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION)."^^xsd:string) AnnotationAssertion( "EFO:0008585"^^xsd:string) AnnotationAssertion( "MESH:D000072657"^^xsd:string) AnnotationAssertion( "RDO:0016116"^^xsd:string) AnnotationAssertion( "ST Elevated Myocardial Infarction"^^xsd:string) AnnotationAssertion( "ST Segment Elevation Myocardial Infarction"^^xsd:string) AnnotationAssertion( "STEMI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000740"^^xsd:string) AnnotationAssertion(rdfs:label "ST Elevation Myocardial Infarction"^^xsd:string) SubClassOf( ) # Class: (Chromate Resistance) AnnotationAssertion( "MIM:118840"^^xsd:string) AnnotationAssertion( "MESH:C566125"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000741"^^xsd:string) AnnotationAssertion(rdfs:label "Chromate Resistance"^^xsd:string) SubClassOf( ) # Class: (Free Sialic Acid Storage Disease) AnnotationAssertion( "MESH:C538523"^^xsd:string) AnnotationAssertion( "N-acetylneuraminic acid (NANA) storage disease (NSD)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000742"^^xsd:string) AnnotationAssertion(rdfs:label "Free Sialic Acid Storage Disease"^^xsd:string) SubClassOf( ) # Class: (Microphthalmia/Coloboma 10) AnnotationAssertion( "OMIA:002151"^^xsd:string) AnnotationAssertion( "MIM:616428"^^xsd:string) AnnotationAssertion( "MCOPCB10"^^xsd:string) AnnotationAssertion( "isolated microphthalmia and/or coloboma 10"^^xsd:string) AnnotationAssertion( "isolated microphthalmia with coloboma 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000743"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 10"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIr) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-22T08:44:21Z"^^xsd:string) AnnotationAssertion( "MIM:301045"^^xsd:string) AnnotationAssertion( "CDG IIr"^^xsd:string) AnnotationAssertion( "CDG2R"^^xsd:string) AnnotationAssertion( "CDGIIR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000744"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIr"^^xsd:string) SubClassOf( ) # Class: (Focal Facial Dermal Dysplasia) AnnotationAssertion(Annotation( "MESH:D000090303"^^xsd:string) "A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-08T14:24:39Z"^^xsd:string) AnnotationAssertion( "MESH:D000090303"^^xsd:string) AnnotationAssertion( "MIM:PS136500"^^xsd:string) AnnotationAssertion( "Facial Ectodermal Dysplasia"^^xsd:string) AnnotationAssertion( "Facial Ectodermal Dysplasias"^^xsd:string) AnnotationAssertion( "Focal Facial Dermal Dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000745"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Facial Dermal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Treponemal Infections) AnnotationAssertion( "Infections with bacteria of the genus TREPONEMA."^^xsd:string) AnnotationAssertion( "RDO:0004382"^^xsd:string) AnnotationAssertion( "EFO:1001217"^^xsd:string) AnnotationAssertion( "MESH:D014211"^^xsd:string) AnnotationAssertion( "Treponemal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000746"^^xsd:string) AnnotationAssertion(rdfs:label "Treponemal Infections"^^xsd:string) SubClassOf( ) # Class: (Pneumorrhachis) AnnotationAssertion(Annotation( "MESH:D063205"^^xsd:string) "Presence of air or gas within the spinal canal cavity (EPIDURAL SPACE; or SUBARACHNOID SPACE). It may result from traumatic injuries, emphysema, infection and other conditions. It can also develop as a complication of various SURGICAL PROCEDURES (e.g., MYELOGRAPHY)."^^xsd:string) AnnotationAssertion( "MESH:D063205"^^xsd:string) AnnotationAssertion( "RDO:0012115"^^xsd:string) AnnotationAssertion( "Epidural Pneumorrhachi"^^xsd:string) AnnotationAssertion( "Epidural Pneumorrhachis"^^xsd:string) AnnotationAssertion( "Pneumorrhachi"^^xsd:string) AnnotationAssertion( "Subarachnoid Pneumorrhachi"^^xsd:string) AnnotationAssertion( "Subarachnoid Pneumorrhachis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000747"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumorrhachis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cloverleaf Skull Micromelia Thoracic Dysplasia) AnnotationAssertion( "MIM:156830"^^xsd:string) AnnotationAssertion( "MESH:C536429"^^xsd:string) AnnotationAssertion( "Micromelic bone dysplasia with cloverleaf skull"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000749"^^xsd:string) AnnotationAssertion(rdfs:label "Cloverleaf Skull Micromelia Thoracic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Waardenburg Syndrome Type 2F) AnnotationAssertion(Annotation( "MIM:619947"^^xsd:string) "Waardenburg Syndrome characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Caused by homozygous mutation in the KITLG gene on chromosome 12q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-06T10:40:27Z"^^xsd:string) AnnotationAssertion( "MIM:619947"^^xsd:string) AnnotationAssertion( "WS2F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000750"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg Syndrome Type 2F"^^xsd:string) SubClassOf( ) # Class: (Absence of Tibia) AnnotationAssertion( "MIM:275220"^^xsd:string) AnnotationAssertion( "MESH:C535563"^^xsd:string) AnnotationAssertion( "RDO:0000758"^^xsd:string) AnnotationAssertion( "Bilateral absence of the tibia"^^xsd:string) AnnotationAssertion( "THM"^^xsd:string) AnnotationAssertion( "Tibial hemimelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000751"^^xsd:string) AnnotationAssertion(rdfs:label "Absence of Tibia"^^xsd:string) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:227220"^^xsd:string) AnnotationAssertion( "RDO:9001117"^^xsd:string) AnnotationAssertion( "BEY2"^^xsd:string) AnnotationAssertion( "BROWN EYE COLOR 2"^^xsd:string) AnnotationAssertion( "EYCL3"^^xsd:string) AnnotationAssertion( "EYE COLOR 3"^^xsd:string) AnnotationAssertion( "EYE COLOR, BLUE/NONBLUE"^^xsd:string) AnnotationAssertion( "EYE COLOR, BROWN/BLUE"^^xsd:string) AnnotationAssertion( "HAIR COLOR 3"^^xsd:string) AnnotationAssertion( "HCL3"^^xsd:string) AnnotationAssertion( "SHEP1"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000752"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Hypertrophic Pyloric Stenosis 3) AnnotationAssertion( "MIM:612017"^^xsd:string) AnnotationAssertion( "MESH:C567435"^^xsd:string) AnnotationAssertion( "IHPS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000754"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypertrophic Pyloric Stenosis 3"^^xsd:string) SubClassOf( ) # Class: (Asrar Facharzt Haque Syndrome) AnnotationAssertion( "MESH:C535391"^^xsd:string) AnnotationAssertion( "RDO:0000484"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000755"^^xsd:string) AnnotationAssertion(rdfs:label "Asrar Facharzt Haque Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Persistent Polyclonal B-Cell Lymphocytosis) AnnotationAssertion( "MIM:606445"^^xsd:string) AnnotationAssertion( "MESH:C564707"^^xsd:string) AnnotationAssertion( "PPBL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000756"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Polyclonal B-Cell Lymphocytosis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 20, Deletion 20p) AnnotationAssertion( "MESH:C535370"^^xsd:string) AnnotationAssertion( "Deletion 20p"^^xsd:string) AnnotationAssertion( "Monosomy 20p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000757"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 20, Deletion 20p"^^xsd:string) SubClassOf( ) # Class: (Myopathy, Cataract, Hypogonadism Syndrome) AnnotationAssertion( "RDO:0012801"^^xsd:string) AnnotationAssertion( "MESH:C563578"^^xsd:string) AnnotationAssertion( "Ocular Myopathy with Hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000758"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy, Cataract, Hypogonadism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Avian Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014379"^^xsd:string) "A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells."^^xsd:string) AnnotationAssertion( "EFO:1001440"^^xsd:string) AnnotationAssertion( "MESH:D014379"^^xsd:string) AnnotationAssertion( "Avian Tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000759"^^xsd:string) AnnotationAssertion(rdfs:label "Avian Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ovarian Dysgenesis 9) AnnotationAssertion(Annotation( "MIM:619665"^^xsd:string) "Characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Caused by homozygous mutation in the SPIDR gene on chromosome 8q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-22T09:30:15Z"^^xsd:string) AnnotationAssertion( "MIM:619665"^^xsd:string) AnnotationAssertion( "ODG9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000760"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Dysgenesis 9"^^xsd:string) SubClassOf( ) # Class: (Deoxyguanosine Kinase Deficiency) AnnotationAssertion( "MESH:C580039"^^xsd:string) AnnotationAssertion( "RDO:0015878"^^xsd:string) AnnotationAssertion( "Dguok-Related Mitochondrial Dna Depletion Syndrome"^^xsd:string) AnnotationAssertion( "Hepatocerebral Mitochondrial Dna Depletion Syndrome"^^xsd:string) AnnotationAssertion( "Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000761"^^xsd:string) AnnotationAssertion(rdfs:label "Deoxyguanosine Kinase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 88) AnnotationAssertion(Annotation( "MIM:619630"^^xsd:string) "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. Caused by homozygous mutation in the TBX21 gene on chromosome 17q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-30T10:50:21Z"^^xsd:string) AnnotationAssertion( "MIM:619630"^^xsd:string) AnnotationAssertion( "IMD88"^^xsd:string) AnnotationAssertion( "immunodeficiency 88, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000762"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 88"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Focal Facial Dermal Dysplasia 4) AnnotationAssertion( "MIM:614974"^^xsd:string) AnnotationAssertion( "FFDD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000763"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Facial Dermal Dysplasia 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy) AnnotationAssertion( "MIM:606183"^^xsd:string) AnnotationAssertion( "MESH:C565252"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000765"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Incisional Hernia) AnnotationAssertion(Annotation( "MESH:D000069290"^^xsd:string) "Protrusion of tissue at or near the site of an incision from a previous surgery."^^xsd:string) AnnotationAssertion( "MESH:D000069290"^^xsd:string) AnnotationAssertion( "Incisional Hernias"^^xsd:string) AnnotationAssertion( "Postoperative Hernia"^^xsd:string) AnnotationAssertion( "Postoperative Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000766"^^xsd:string) AnnotationAssertion(rdfs:label "Incisional Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8, Trisomy 8q) AnnotationAssertion( "MESH:C538020"^^xsd:string) AnnotationAssertion( "RDO:0003954"^^xsd:string) AnnotationAssertion( "Duplication 8q"^^xsd:string) AnnotationAssertion( "Trisomy 8q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000767"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Trisomy 8q"^^xsd:string) SubClassOf( ) # Class: (Ruptured Aneurysm) AnnotationAssertion(Annotation( "MESH:D017542"^^xsd:string) "The tearing or bursting of the weakened wall of the aneurysmal sac, usually heralded by sudden worsening pain. The great danger of a ruptured aneurysm is the large amount of blood spilling into the surrounding tissues and cavities, causing HEMORRHAGIC SHOCK."^^xsd:string) AnnotationAssertion( "MESH:D017542"^^xsd:string) AnnotationAssertion( "Ruptured Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000768"^^xsd:string) AnnotationAssertion(rdfs:label "Ruptured Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Parotid Neoplasms) AnnotationAssertion( "Tumors or cancer of the PAROTID GLAND."^^xsd:string) AnnotationAssertion( "EFO:0003873"^^xsd:string) AnnotationAssertion( "MESH:D010307"^^xsd:string) AnnotationAssertion( "parotid neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000769"^^xsd:string) AnnotationAssertion(rdfs:label "Parotid Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Giant Cell Carcinoma) AnnotationAssertion( "An epithelial neoplasm characterized by unusually large anaplastic cells. It is highly malignant with fulminant clinical course, bizarre histologic appearance and poor prognosis. It is most common in the lung and thyroid. (From Stedman, 25th ed & Segen, Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "RDO:0007162"^^xsd:string) AnnotationAssertion( "MESH:D018286"^^xsd:string) AnnotationAssertion( "giant cell carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000770"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Cell Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Diverticulosis of Bowel, Hernia, and Retinal Detachment) AnnotationAssertion( "MIM:223330"^^xsd:string) AnnotationAssertion( "MESH:C565619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000771"^^xsd:string) AnnotationAssertion(rdfs:label "Diverticulosis of Bowel, Hernia, and Retinal Detachment"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bronchial Hyperreactivity) AnnotationAssertion(Annotation( "MESH:D016535"^^xsd:string) "Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory."^^xsd:string) AnnotationAssertion( "MESH:D016535"^^xsd:string) AnnotationAssertion( "Bronchial Hyperreactivities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000772"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchial Hyperreactivity"^^xsd:string) SubClassOf( ) # Class: (Congenital Facial Linear Porokeratosis) AnnotationAssertion( "RDO:0004563"^^xsd:string) AnnotationAssertion( "MESH:C538641"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000773"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Facial Linear Porokeratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brain Death) AnnotationAssertion(Annotation( "MESH:D001926"^^xsd:string) "A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9)"^^xsd:string) AnnotationAssertion( "MESH:D001926"^^xsd:string) AnnotationAssertion( "Brain Dead"^^xsd:string) AnnotationAssertion( "Brain Deads"^^xsd:string) AnnotationAssertion( "Coma Depasse"^^xsd:string) AnnotationAssertion( "Irreversible Coma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000774"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Death"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Conduction Aphasia) AnnotationAssertion(Annotation( "MESH:D018886"^^xsd:string) "A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. (From Adams et al., Principles of Neurology, 6th ed, p482; Brain & Bannister, Clinical Neurology, 7th ed, p142; Kandel et al., Principles of Neural Science, 3d ed, p848)"^^xsd:string) AnnotationAssertion( "MESH:D018886"^^xsd:string) AnnotationAssertion( "Associative Aphasia"^^xsd:string) AnnotationAssertion( "Associative Aphasias"^^xsd:string) AnnotationAssertion( "Associative Dysphasia"^^xsd:string) AnnotationAssertion( "Associative Dysphasias"^^xsd:string) AnnotationAssertion( "Conduction Aphasias"^^xsd:string) AnnotationAssertion( "Conduction Dysphasia"^^xsd:string) AnnotationAssertion( "Conduction Dysphasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000775"^^xsd:string) AnnotationAssertion(rdfs:label "Conduction Aphasia"^^xsd:string) SubClassOf( ) # Class: (Hyperglycinemia, Lactic Acidosis, and Seizures) AnnotationAssertion( "MIM:614462"^^xsd:string) AnnotationAssertion( "HGCLAS"^^xsd:string) AnnotationAssertion( "PDHLD"^^xsd:string) AnnotationAssertion( "PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000776"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperglycinemia, Lactic Acidosis, and Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Cardiomyopathy) AnnotationAssertion( "A group of diseases in which the dominant feature is the involvement of the cardiac muscle, associated with abnormal mitochondria function."^^xsd:string) AnnotationAssertion( "Mitochondrial cardiomyopathies"^^xsd:string) AnnotationAssertion( "EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000777"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects) AnnotationAssertion( "MIM:603642"^^xsd:string) AnnotationAssertion( "MESH:C566351"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000778"^^xsd:string) AnnotationAssertion(rdfs:label "Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypospadias 1, X-Linked) AnnotationAssertion( "MIM:300633"^^xsd:string) AnnotationAssertion( "MESH:C567482"^^xsd:string) AnnotationAssertion( "Hysp1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000779"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias 1, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hexokinase Deficiency Hemolytic Anemia) AnnotationAssertion( "MESH:C562995"^^xsd:string) AnnotationAssertion( "RDO:0012464"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000780"^^xsd:string) AnnotationAssertion(rdfs:label "Hexokinase Deficiency Hemolytic Anemia"^^xsd:string) SubClassOf( ) # Class: (Cyanosis) AnnotationAssertion(Annotation( "MESH:D003490"^^xsd:string) "A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule."^^xsd:string) AnnotationAssertion( "MESH:D003490"^^xsd:string) AnnotationAssertion( "Cyanoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DENVER"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN FREIBURG"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (FREIBURG)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN REISSMANN ET AL."^^xsd:string) AnnotationAssertion( "Hemoglobin Kansas"^^xsd:string) AnnotationAssertion( "DOID:9000781"^^xsd:string) AnnotationAssertion(rdfs:label "Cyanosis"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism) AnnotationAssertion( "MIM:118301"^^xsd:string) AnnotationAssertion( "MESH:C538079"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000782"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities) AnnotationAssertion( "MIM:600461"^^xsd:string) AnnotationAssertion( "MESH:C563935"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000783"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fibrosis) AnnotationAssertion(Annotation( "MESH:D005355"^^xsd:string) "Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury."^^xsd:string) AnnotationAssertion( "EFO:0006890"^^xsd:string) AnnotationAssertion( "MESH:D005355"^^xsd:string) AnnotationAssertion( "fibroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000784"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrosis"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2) AnnotationAssertion( "MIM:614743"^^xsd:string) AnnotationAssertion( "PFBMFT2"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000785"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2"^^xsd:string) SubClassOf( ) # Class: (Cleft Palate with Ankyloglossia) AnnotationAssertion( "MESH:C564442"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000786"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Palate with Ankyloglossia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tachycardia, Atrioventricular Nodal Reentry) AnnotationAssertion(Annotation( "MESH:D013611"^^xsd:string) "Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute."^^xsd:string) AnnotationAssertion( "MESH:D013611"^^xsd:string) AnnotationAssertion( "AV Nodal Reentrant Tachycardia"^^xsd:string) AnnotationAssertion( "Atrioventricular Nodal Reentrant Tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000787"^^xsd:string) AnnotationAssertion(rdfs:label "Tachycardia, Atrioventricular Nodal Reentry"^^xsd:string) SubClassOf( ) # Class: (Preauricular Fistulae, Congenital) AnnotationAssertion( "MIM:128700"^^xsd:string) AnnotationAssertion( "MESH:C563015"^^xsd:string) AnnotationAssertion( "Ear Pits"^^xsd:string) AnnotationAssertion( "PAFC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000788"^^xsd:string) AnnotationAssertion(rdfs:label "Preauricular Fistulae, Congenital"^^xsd:string) SubClassOf( ) # Class: (Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus) AnnotationAssertion( "MIM:615458"^^xsd:string) AnnotationAssertion( "ADAMTS18-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MMCAT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000789"^^xsd:string) AnnotationAssertion(rdfs:label "Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postoperative Complications) AnnotationAssertion(Annotation( "MESH:D011183"^^xsd:string) "Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery."^^xsd:string) AnnotationAssertion( "MESH:D011183"^^xsd:string) AnnotationAssertion( "Postoperative Complication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000790"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Complications"^^xsd:string) SubClassOf( ) # Class: (Mouth Breathing) AnnotationAssertion(Annotation( "MESH:D009058"^^xsd:string) "Abnormal breathing through the mouth, usually associated with obstructive disorders of the nasal passages."^^xsd:string) AnnotationAssertion( "MESH:D009058"^^xsd:string) AnnotationAssertion( "Mouth Breathings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000791"^^xsd:string) AnnotationAssertion(rdfs:label "Mouth Breathing"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Methemoglobinemia, Beta-Globin Type) AnnotationAssertion( "MIM:617971"^^xsd:string) AnnotationAssertion( "MESH:C564192"^^xsd:string) AnnotationAssertion( "erythremia, beta-globin type"^^xsd:string) AnnotationAssertion( "methemoglobinemia, beta type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN DEACONESS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (AKITA)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (HYDE PARK)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (MILWAUKEE 1)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (MILWAUKEE 2)"^^xsd:string) AnnotationAssertion( "hemoglobin Athens-Georgia"^^xsd:string) AnnotationAssertion( "hemoglobin Birmingham (USA)"^^xsd:string) AnnotationAssertion( "hemoglobin D (Granada)"^^xsd:string) AnnotationAssertion( "hemoglobin M (Radom)"^^xsd:string) AnnotationAssertion( "hemoglobin Sendagi"^^xsd:string) AnnotationAssertion( "hemoglobin Warsaw"^^xsd:string) AnnotationAssertion( "DOID:9000792"^^xsd:string) AnnotationAssertion(rdfs:label "Methemoglobinemia, Beta-Globin Type"^^xsd:string) SubClassOf( ) # Class: (Fine-Lubinsky Syndrome) AnnotationAssertion( "MIM:601353"^^xsd:string) AnnotationAssertion( "MESH:C537933"^^xsd:string) AnnotationAssertion( "Brachycephaly, deafness, cataract and mental retardation"^^xsd:string) AnnotationAssertion( "Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development"^^xsd:string) AnnotationAssertion( "Brachycephaly, deafness, cataract, microstomia, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000793"^^xsd:string) AnnotationAssertion(rdfs:label "Fine-Lubinsky Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sporadic Creutzfeldt-Jakob Disease) AnnotationAssertion( "EFO:1000656"^^xsd:string) AnnotationAssertion( "MESH:C565143"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000794"^^xsd:string) AnnotationAssertion(rdfs:label "Sporadic Creutzfeldt-Jakob Disease"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 104) AnnotationAssertion(Annotation( "MIM:608971"^^xsd:string) "An autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-05T12:21:07Z"^^xsd:string) AnnotationAssertion( "MIM:608971"^^xsd:string) AnnotationAssertion( "IL7R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD104"^^xsd:string) AnnotationAssertion( "Immunodeficiency 104, severe combined"^^xsd:string) AnnotationAssertion( "immunodeficiency 104"^^xsd:string) AnnotationAssertion( "severe combined immunodeficiency 104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000795"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 104"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 84) AnnotationAssertion(Annotation( "MIM:619810"^^xsd:string) "This disease is characterized by slowly progressive nonsyndromic sensorineural hearing loss."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-13T14:53:48Z"^^xsd:string) AnnotationAssertion( "MIM:619810"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL DOMINANT 84"^^xsd:string) AnnotationAssertion( "DFNA84"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness-84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000796"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 84"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (High Serum Cholesterol, Familial) AnnotationAssertion( "MESH:C538646"^^xsd:string) AnnotationAssertion( "Hyperlipidema, Familial"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia, type 2 A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000798"^^xsd:string) AnnotationAssertion(rdfs:label "High Serum Cholesterol, Familial"^^xsd:string) SubClassOf( ) # Class: (Nodular Lymphocytic Vasculitis) AnnotationAssertion( "MIM:192310"^^xsd:string) AnnotationAssertion( "MESH:C566008"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000799"^^xsd:string) AnnotationAssertion(rdfs:label "Nodular Lymphocytic Vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Iris Dysplasia Hypertelorism Deafness) AnnotationAssertion( "MESH:C535537"^^xsd:string) AnnotationAssertion( "RDO:0000710"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000800"^^xsd:string) AnnotationAssertion(rdfs:label "Iris Dysplasia Hypertelorism Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 21, Tetrasomy 21q) AnnotationAssertion( "MESH:C536793"^^xsd:string) AnnotationAssertion( "RDO:0002484"^^xsd:string) AnnotationAssertion( "Tetrasomy 21q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000801"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 21, Tetrasomy 21q"^^xsd:string) SubClassOf( ) # Class: (Lingual Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061222"^^xsd:string) "Traumatic injuries to the LINGUAL NERVE. It may be a complication following dental treatments."^^xsd:string) AnnotationAssertion( "MESH:D061222"^^xsd:string) AnnotationAssertion( "RDO:0010059"^^xsd:string) AnnotationAssertion( "Lingual Nerve Contusion"^^xsd:string) AnnotationAssertion( "Lingual Nerve Contusions"^^xsd:string) AnnotationAssertion( "Lingual Nerve Injury"^^xsd:string) AnnotationAssertion( "Lingual Nerve Transection"^^xsd:string) AnnotationAssertion( "Lingual Nerve Transections"^^xsd:string) AnnotationAssertion( "Lingual Neuropathy, Traumatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000802"^^xsd:string) AnnotationAssertion(rdfs:label "Lingual Nerve Injuries"^^xsd:string) SubClassOf( ) # Class: (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5) AnnotationAssertion( "A form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization. Caused by heterozygous mutation in the ACTG2 gene on chromosome 2p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:19:50Z"^^xsd:string) AnnotationAssertion( "EFO:0020038"^^xsd:string) AnnotationAssertion( "MIM:619431"^^xsd:string) AnnotationAssertion( "MMIHS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000803"^^xsd:string) AnnotationAssertion(rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Seizures and Language Delay) AnnotationAssertion(Annotation( "MIM:619000"^^xsd:string) "This disease is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-18T10:13:51Z"^^xsd:string) AnnotationAssertion( "MIM:619000"^^xsd:string) AnnotationAssertion( "IDDSELD"^^xsd:string) AnnotationAssertion( "SETD1B-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "SETD1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000804"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Seizures and Language Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Femoral Neoplasms) AnnotationAssertion( "New abnormal growth of tissue in the FEMUR."^^xsd:string) AnnotationAssertion( "RDO:0005591"^^xsd:string) AnnotationAssertion( "MESH:D005266"^^xsd:string) AnnotationAssertion( "femoral neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of femur"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000805"^^xsd:string) AnnotationAssertion(rdfs:label "Femoral Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Metaphyseal Anadysplasia 2) AnnotationAssertion( "MIM:613073"^^xsd:string) AnnotationAssertion( "MESH:C567771"^^xsd:string) AnnotationAssertion( "MANDP2"^^xsd:string) AnnotationAssertion( "METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000806"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Anadysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Megaduodenum) AnnotationAssertion( "MESH:C536139"^^xsd:string) AnnotationAssertion( "RDO:0001591"^^xsd:string) AnnotationAssertion( "Fetal megacystis"^^xsd:string) AnnotationAssertion( "Megacystis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000807"^^xsd:string) AnnotationAssertion(rdfs:label "Megaduodenum"^^xsd:string) SubClassOf( ) # Class: (Hypercholesterolemia) AnnotationAssertion(Annotation( "MESH:D006937"^^xsd:string) "A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population."^^xsd:string) AnnotationAssertion( "MESH:D006937"^^xsd:string) AnnotationAssertion( "Elevated Cholesterols"^^xsd:string) AnnotationAssertion( "High Cholesterol Level"^^xsd:string) AnnotationAssertion( "High Cholesterol Levels"^^xsd:string) AnnotationAssertion( "Hypercholesteremia"^^xsd:string) AnnotationAssertion( "Hypercholesteremias"^^xsd:string) AnnotationAssertion( "elevated cholesterol"^^xsd:string) AnnotationAssertion( "hypercholesterolaemia"^^xsd:string) AnnotationAssertion( "hypercholesterolemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9000808"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercholesterolemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (HYPERTRIGLYCERIDEMIA 1) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-13T13:04:54Z"^^xsd:string) AnnotationAssertion( "MIM:145750"^^xsd:string) AnnotationAssertion( "Familial Hypertriglyceridemia"^^xsd:string) AnnotationAssertion( "HYPERTRIGLYCERIDEMIA, FAMILIAL"^^xsd:string) AnnotationAssertion( "HYTG1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000810"^^xsd:string) AnnotationAssertion(rdfs:label "HYPERTRIGLYCERIDEMIA 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acroosteolysis Dominant Type) AnnotationAssertion( "MESH:C535663"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000812"^^xsd:string) AnnotationAssertion(rdfs:label "Acroosteolysis Dominant Type"^^xsd:string) SubClassOf( ) # Class: (Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation) AnnotationAssertion( "MIM:270950"^^xsd:string) AnnotationAssertion( "MESH:C564808"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000813"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mucopolysaccharidosis X) AnnotationAssertion(Annotation( "MIM:619698"^^xsd:string) "An autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature, and skeletal, cardiac and ophthalmologic abnormalities. Caused by homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-10T10:20:27Z"^^xsd:string) AnnotationAssertion( "MIM:619698"^^xsd:string) AnnotationAssertion( "ARSK deficiency"^^xsd:string) AnnotationAssertion( "MPS10"^^xsd:string) AnnotationAssertion( "arylsulfatase K deficiency"^^xsd:string) AnnotationAssertion( "mucopolysaccharidosis type X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000814"^^xsd:string) AnnotationAssertion(rdfs:label "Mucopolysaccharidosis X"^^xsd:string) SubClassOf( ) # Class: (Aortic Calcification) AnnotationAssertion( "Calcification of the aorta involves early deposition of calcium in the formation of an atherosclerotic plaque."^^xsd:string) AnnotationAssertion( "EFO:0004859"^^xsd:string) AnnotationAssertion( "EFO:0010274"^^xsd:string) AnnotationAssertion( "aorta calcification"^^xsd:string) AnnotationAssertion( "aortic artery calcification"^^xsd:string) AnnotationAssertion( "abdominal aortic artery calcification"^^xsd:string) AnnotationAssertion( "abdominal aortic calcification"^^xsd:string) AnnotationAssertion( "thoracic aortic artery calcification"^^xsd:string) AnnotationAssertion( "thoracic aortic calcification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AAC"^^xsd:string) AnnotationAssertion( "DOID:9000815"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic Pericardial Effusion) AnnotationAssertion( "MIM:260900"^^xsd:string) AnnotationAssertion( "MESH:C564895"^^xsd:string) AnnotationAssertion( "cholesterol pericarditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000816"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Pericardial Effusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Disease Attributes) AnnotationAssertion(Annotation( "MESH:D020969"^^xsd:string) "Clinical characteristics of disease or illness."^^xsd:string) AnnotationAssertion( "MESH:D020969"^^xsd:string) AnnotationAssertion( "Disease Attribute"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000817"^^xsd:string) AnnotationAssertion(rdfs:label "Disease Attributes"^^xsd:string) SubClassOf( ) # Class: (vitreous prolapse) AnnotationAssertion(Annotation( "EFO:0008625"^^xsd:string) "This disease involves prolapse of the vitreous material through a defect in the zonule around the lens and into the anterior chamber."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-13T17:05:03Z"^^xsd:string) AnnotationAssertion( "EFO:0008625"^^xsd:string) AnnotationAssertion( "intraocular content prolapse"^^xsd:string) AnnotationAssertion( "prolapse of the intraocular contents"^^xsd:string) AnnotationAssertion( "prolapse of vitreous body"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000818"^^xsd:string) AnnotationAssertion(rdfs:label "vitreous prolapse"^^xsd:string) SubClassOf( ) # Class: (Stickler Syndrome, Type VI) AnnotationAssertion(Annotation( "MIM:620022"^^xsd:string) "A disease characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. Caused by homozygous or compound heterozygous mutation in the COL9A3 gene on chromosome 20q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-06T08:42:23Z"^^xsd:string) AnnotationAssertion( "MIM:620022"^^xsd:string) AnnotationAssertion( "STL6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000819"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler Syndrome, Type VI"^^xsd:string) SubClassOf( ) # Class: (GSD IV, Classic Hepatic) AnnotationAssertion( "MESH:C565539"^^xsd:string) AnnotationAssertion( "RDO:0014147"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000820"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Classic Hepatic"^^xsd:string) SubClassOf( ) # Class: (Myocardial Bridging) AnnotationAssertion(Annotation( "MESH:D054084"^^xsd:string) "A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Systolic contractions of the muscle bridge can lead to narrowing of coronary artery; coronary compression; MYOCARDIAL ISCHEMIA; MYOCARDIAL INFARCTION; and SUDDEN CARDIAC DEATH."^^xsd:string) AnnotationAssertion( "MESH:D054084"^^xsd:string) AnnotationAssertion( "RDO:0007656"^^xsd:string) AnnotationAssertion( "Myocardial Bridgings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000821"^^xsd:string) AnnotationAssertion(rdfs:label "Myocardial Bridging"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull) AnnotationAssertion( "MIM:601163"^^xsd:string) AnnotationAssertion( "MESH:C563380"^^xsd:string) AnnotationAssertion( "Froster syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000823"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dysautonomia Like Disorder) AnnotationAssertion( "MIM:224000"^^xsd:string) AnnotationAssertion( "MESH:C535728"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000824"^^xsd:string) AnnotationAssertion(rdfs:label "Dysautonomia Like Disorder"^^xsd:string) SubClassOf( ) # Class: (Neurothekeoma) AnnotationAssertion(Annotation( "MESH:D018321"^^xsd:string) "A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000394"^^xsd:string) AnnotationAssertion( "MESH:D018321"^^xsd:string) AnnotationAssertion( "Nerve Sheath Myxoma"^^xsd:string) AnnotationAssertion( "Nerve Sheath Myxomas"^^xsd:string) AnnotationAssertion( "Neurotheceoma"^^xsd:string) AnnotationAssertion( "Neurotheceomas"^^xsd:string) AnnotationAssertion( "Neurothecoma"^^xsd:string) AnnotationAssertion( "Neurothecomas"^^xsd:string) AnnotationAssertion( "Neurothekeomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000825"^^xsd:string) AnnotationAssertion(rdfs:label "Neurothekeoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sternocostoclavicular Hyperostosis) AnnotationAssertion(Annotation( "MESH:D015218"^^xsd:string) "A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. It is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in Japan. Careful diagnosis is required to distinguish it from psoriatic arthritis, OSTEITIS DEFORMANS, and other diseases. Spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. Bone imaging is especially useful for diagnosis. It was originally described by Sonozaki in 1974."^^xsd:string) AnnotationAssertion( "RDO:0006854"^^xsd:string) AnnotationAssertion( "MESH:D015218"^^xsd:string) AnnotationAssertion( "Sternocostoclavicular Hyperostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000826"^^xsd:string) AnnotationAssertion(rdfs:label "Sternocostoclavicular Hyperostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Retinal Dysplasia) AnnotationAssertion( "MIM:312550"^^xsd:string) AnnotationAssertion( "RDO:0008712"^^xsd:string) AnnotationAssertion( "PRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000827"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Retinal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Human Spumaretrovirus Infection) AnnotationAssertion( "MESH:C536069"^^xsd:string) AnnotationAssertion( "RDO:0001492"^^xsd:string) AnnotationAssertion( "Human spumaretroviridae infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000828"^^xsd:string) AnnotationAssertion(rdfs:label "Human Spumaretrovirus Infection"^^xsd:string) SubClassOf( ) # Class: (Acute Rheumatism) AnnotationAssertion( "MESH:C538407"^^xsd:string) AnnotationAssertion( "RDO:0004385"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000829"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Rheumatism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypokinesia) AnnotationAssertion(Annotation( "MESH:D018476"^^xsd:string) "Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D018476"^^xsd:string) AnnotationAssertion( "Antiorthostatic Hypokinesia"^^xsd:string) AnnotationAssertion( "Antiorthostatic Hypokinesias"^^xsd:string) AnnotationAssertion( "Bradykinesia"^^xsd:string) AnnotationAssertion( "Bradykinesias"^^xsd:string) AnnotationAssertion( "Hypodynamia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000831"^^xsd:string) AnnotationAssertion(rdfs:label "Hypokinesia"^^xsd:string) SubClassOf( ) # Class: (Congenital Neuropathy with Arthrogryposis Multiplex) AnnotationAssertion( "MIM:162370"^^xsd:string) AnnotationAssertion( "MESH:C535714"^^xsd:string) AnnotationAssertion( "Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000832"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Neuropathy with Arthrogryposis Multiplex"^^xsd:string) SubClassOf( ) # Class: (X Chromosome, Trisomy Xp3) AnnotationAssertion( "MESH:C536756"^^xsd:string) AnnotationAssertion( "RDO:0002436"^^xsd:string) AnnotationAssertion( "Duplication Xp3"^^xsd:string) AnnotationAssertion( "Trisomy Xp3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000833"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Trisomy Xp3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chitty Hall Baraitser Syndrome) AnnotationAssertion( "MIM:601351"^^xsd:string) AnnotationAssertion( "MESH:C535928"^^xsd:string) AnnotationAssertion( "Deafness, femoral epiphyseal dysplasia, short stature and developmental delay"^^xsd:string) AnnotationAssertion( "Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000834"^^xsd:string) AnnotationAssertion(rdfs:label "Chitty Hall Baraitser Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anterior Diaphragmatic Hernia) AnnotationAssertion( "MIM:306950"^^xsd:string) AnnotationAssertion( "MESH:C564413"^^xsd:string) AnnotationAssertion( "DIH5"^^xsd:string) AnnotationAssertion( "Diaphragmatic hernia 5, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000835"^^xsd:string) AnnotationAssertion(rdfs:label "Anterior Diaphragmatic Hernia"^^xsd:string) SubClassOf( ) # Class: (Diaphanospondylodysostosis) AnnotationAssertion( "MIM:608022"^^xsd:string) AnnotationAssertion( "MESH:C564305"^^xsd:string) AnnotationAssertion( "defect in vertebral ossification with nephrogenic rests"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000836"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphanospondylodysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Esophageal Stenosis) AnnotationAssertion(Annotation( "MESH:D004940"^^xsd:string) "A stricture of the ESOPHAGUS. Most are acquired but can be congenital."^^xsd:string) AnnotationAssertion( "MESH:D004940"^^xsd:string) AnnotationAssertion( "Esophageal Stenoses"^^xsd:string) AnnotationAssertion( "Esophageal Stricture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000837"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Stenosis"^^xsd:string) SubClassOf( ) # Class: (Growth Mental Deficiency Syndrome of Myhre) AnnotationAssertion( "MIM:139210"^^xsd:string) AnnotationAssertion( "MESH:C537620"^^xsd:string) AnnotationAssertion( "NCI:C123815"^^xsd:string) AnnotationAssertion( "LAPS"^^xsd:string) AnnotationAssertion( "Laps Syndrome"^^xsd:string) AnnotationAssertion( "Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature"^^xsd:string) AnnotationAssertion( "MYHRS"^^xsd:string) AnnotationAssertion( "Myhre syndrome"^^xsd:string) AnnotationAssertion( "HERITABLE THORACIC AORTIC DISEASE"^^xsd:string) AnnotationAssertion( "HERITABLE THORACIC AORTIC DISEASE WITHOUT JUVENILE POLYPOSIS AND HEREDITARY HEMORRHAGIC TELANGIECTASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000838"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Mental Deficiency Syndrome of Myhre"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ichthyosis Hystrix Gravior) AnnotationAssertion( "MIM:146600"^^xsd:string) AnnotationAssertion( "MESH:C536087"^^xsd:string) AnnotationAssertion( "IHL"^^xsd:string) AnnotationAssertion( "Lambert type ichthyosis"^^xsd:string) AnnotationAssertion( "Lambert type ichthyosis hystrix"^^xsd:string) AnnotationAssertion( "Lambert type of ichthyosis hystrix"^^xsd:string) AnnotationAssertion( "Porcupine man"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000839"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Hystrix Gravior"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Herpes Simplex Encephalitis 7) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616532"^^xsd:string) AnnotationAssertion( "IIAE7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "DOID:9000840"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Simplex Encephalitis 7"^^xsd:string) SubClassOf( ) # Class: (Community-Acquired Infections) AnnotationAssertion(Annotation( "MESH:D017714"^^xsd:string) "Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility."^^xsd:string) AnnotationAssertion( "MESH:D017714"^^xsd:string) AnnotationAssertion( "RDO:0007072"^^xsd:string) AnnotationAssertion( "Community-Acquired Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000841"^^xsd:string) AnnotationAssertion(rdfs:label "Community-Acquired Infections"^^xsd:string) SubClassOf( ) # Class: (Proteostasis Deficiencies) AnnotationAssertion(Annotation( "MESH:D057165"^^xsd:string) "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins."^^xsd:string) AnnotationAssertion( "MESH:D057165"^^xsd:string) AnnotationAssertion( "Protein Folding Disease"^^xsd:string) AnnotationAssertion( "Protein Folding Disorder"^^xsd:string) AnnotationAssertion( "Protein Folding Disorders"^^xsd:string) AnnotationAssertion( "Protein Misfolding Disease"^^xsd:string) AnnotationAssertion( "Protein Misfolding Diseases"^^xsd:string) AnnotationAssertion( "Protein Misfolding Disorder"^^xsd:string) AnnotationAssertion( "Protein Misfolding Disorders"^^xsd:string) AnnotationAssertion( "Proteostasis Deficiency"^^xsd:string) AnnotationAssertion( "Proteostasis Dysfunction"^^xsd:string) AnnotationAssertion( "protein folding diseases"^^xsd:string) AnnotationAssertion( "proteostasis dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000842"^^xsd:string) AnnotationAssertion(rdfs:label "Proteostasis Deficiencies"^^xsd:string) SubClassOf( ) # Class: (Acne Conglobata) AnnotationAssertion(Annotation( "MESH:D000069316"^^xsd:string) "Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement."^^xsd:string) AnnotationAssertion( "MESH:D000069316"^^xsd:string) AnnotationAssertion( "Acne Conglobatas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000843"^^xsd:string) AnnotationAssertion(rdfs:label "Acne Conglobata"^^xsd:string) SubClassOf( ) # Class: (Oculopharyngeal Muscular Dystrophy 2) AnnotationAssertion(Annotation( "MIM:620460"^^xsd:string) "An autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Caused by heterozygous mutation in the HNRNPA2B1 gene on chromosome 7p15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-04T10:00:38Z"^^xsd:string) AnnotationAssertion( "MIM:620460"^^xsd:string) AnnotationAssertion( "OPMD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000844"^^xsd:string) AnnotationAssertion(rdfs:label "Oculopharyngeal Muscular Dystrophy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Say Syndrome) AnnotationAssertion( "MIM:181180"^^xsd:string) AnnotationAssertion( "MESH:C536621"^^xsd:string) AnnotationAssertion( "Say Barber Hobbs syndrome"^^xsd:string) AnnotationAssertion( "cleft palate large ears small head"^^xsd:string) AnnotationAssertion( "cleft palate, microcephaly, large ears, and short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000846"^^xsd:string) AnnotationAssertion(rdfs:label "Say Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Burnett Schwartz Berberian Syndrome) AnnotationAssertion( "MESH:C537412"^^xsd:string) AnnotationAssertion( "RDO:0003253"^^xsd:string) AnnotationAssertion( "Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2"^^xsd:string) AnnotationAssertion( "Atrophodermia Reticulata Symmetrica Faciei"^^xsd:string) AnnotationAssertion( "Atrophodermia reticulata"^^xsd:string) AnnotationAssertion( "Atrophodermia vermiculata"^^xsd:string) AnnotationAssertion( "Folliculitis ulerythematosa"^^xsd:string) AnnotationAssertion( "Folliculitis ulerythematosa reticulata"^^xsd:string) AnnotationAssertion( "Honeycomb atrophy"^^xsd:string) AnnotationAssertion( "Keratosis Pilaris Atrophicans Facies"^^xsd:string) AnnotationAssertion( "Keratosis pilaris"^^xsd:string) AnnotationAssertion( "Ulerythema ophryogenes"^^xsd:string) AnnotationAssertion( "Ulerythema ophryogenes with multiple congenital anomalies"^^xsd:string) AnnotationAssertion( "Ulerythema ophryogenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000847"^^xsd:string) AnnotationAssertion(rdfs:label "Burnett Schwartz Berberian Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 1H) AnnotationAssertion(Annotation( "MIM:619764"^^xsd:string) "An autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T10:19:50Z"^^xsd:string) AnnotationAssertion( "MIM:619764"^^xsd:string) AnnotationAssertion( "CMT1H"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 1H"^^xsd:string) AnnotationAssertion( "HNARMD"^^xsd:string) AnnotationAssertion( "demyelinating Charcot-Marie-Tooth disease type 1H"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, IH"^^xsd:string) AnnotationAssertion( "hereditary neuropathy with or without age-related macular degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000848"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 1H"^^xsd:string) SubClassOf( ) # Class: (Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome) AnnotationAssertion( "MIM:616108"^^xsd:string) AnnotationAssertion( "RDO:9001211"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000849"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 1A, Intermediate) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:18:59Z"^^xsd:string) AnnotationAssertion( "MIM:226650"^^xsd:string) AnnotationAssertion( "JEB1A"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 1A, generalized intermediate"^^xsd:string) AnnotationAssertion( "junctional epidermolysis bullosa 1A, non-Herlitz type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000850"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 1A, Intermediate"^^xsd:string) SubClassOf( ) # Class: (Congenital Cerebral Granulomas) AnnotationAssertion( "MIM:306300"^^xsd:string) AnnotationAssertion( "MESH:C537294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000851"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Cerebral Granulomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Severe Congenital Neutropenia 9, Autosomal Dominant) AnnotationAssertion(Annotation( "MIM:619813"^^xsd:string) "Characterized by onset of neutropenia in the first years of life. Caused by heterozygous mutation in the CLPB gene on chromosome 11q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-12T14:34:15Z"^^xsd:string) AnnotationAssertion( "MIM:619813"^^xsd:string) AnnotationAssertion( "SCN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000852"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Congenital Neutropenia 9, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Acropectoral Syndrome) AnnotationAssertion( "MIM:605967"^^xsd:string) AnnotationAssertion( "MESH:C535664"^^xsd:string) AnnotationAssertion( "RDO:0000913"^^xsd:string) AnnotationAssertion( "ACRP SYNDROME"^^xsd:string) AnnotationAssertion( "ACRPS"^^xsd:string) AnnotationAssertion( "DUNDAR ACROPECTORAL SYNDROME"^^xsd:string) AnnotationAssertion( "Syndactyly, preaxial polydactyly, and sternal deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000853"^^xsd:string) AnnotationAssertion(rdfs:label "Acropectoral Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 7) AnnotationAssertion( "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:9001627"^^xsd:string) AnnotationAssertion( "MIM:616286"^^xsd:string) AnnotationAssertion( "LCCS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000854"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Experimental Radiation Injuries) AnnotationAssertion(Annotation( "MESH:D011833"^^xsd:string) "Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals."^^xsd:string) AnnotationAssertion( "MESH:D011833"^^xsd:string) AnnotationAssertion( "Experimental Radiation Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000855"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Radiation Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FG Syndrome 5) AnnotationAssertion( "MIM:300581"^^xsd:string) AnnotationAssertion( "MESH:C564480"^^xsd:string) AnnotationAssertion( "FGS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000856"^^xsd:string) AnnotationAssertion(rdfs:label "FG Syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 17 Trisomy) AnnotationAssertion( "MESH:C538044"^^xsd:string) AnnotationAssertion( "NCI:C37865"^^xsd:string) AnnotationAssertion( "Chromosome 17 duplication"^^xsd:string) AnnotationAssertion( "Trisomy 17"^^xsd:string) AnnotationAssertion( "Trisomy 17 mosaicism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000857"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17 Trisomy"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 4) AnnotationAssertion( "RDO:9000194"^^xsd:string) AnnotationAssertion( "MIM:615007"^^xsd:string) AnnotationAssertion( "IBGC4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000858"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 4"^^xsd:string) SubClassOf( ) # Class: (Infectious Skin Diseases) AnnotationAssertion(Annotation( "MESH:D012874"^^xsd:string) "Skin diseases caused by bacteria, fungi, parasites, or viruses."^^xsd:string) AnnotationAssertion( "RDO:0005153"^^xsd:string) AnnotationAssertion( "MESH:D012874"^^xsd:string) AnnotationAssertion( "Infectious Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000859"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Skin Diseases"^^xsd:string) SubClassOf( ) # Class: (Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency) AnnotationAssertion( "MIM:125890"^^xsd:string) AnnotationAssertion( "MESH:C565099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000860"^^xsd:string) AnnotationAssertion(rdfs:label "Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glaucoma 1, Open Angle, N) AnnotationAssertion( "MIM:611274"^^xsd:string) AnnotationAssertion( "MESH:C566977"^^xsd:string) AnnotationAssertion( "GLC1N"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000862"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, N"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression) AnnotationAssertion( "MESH:C567267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000863"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression"^^xsd:string) SubClassOf( ) # Class: (Lymphokine Deficiency) AnnotationAssertion( "MIM:247650"^^xsd:string) AnnotationAssertion( "MESH:C565428"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000864"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphokine Deficiency"^^xsd:string) SubClassOf( ) # Class: (Amastia) AnnotationAssertion( "MESH:C562989"^^xsd:string) AnnotationAssertion( "MIM:PS113700"^^xsd:string) AnnotationAssertion( "absent breasts and nipples"^^xsd:string) AnnotationAssertion( "complete absence of breasts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "amazia"^^xsd:string) AnnotationAssertion( "athelia"^^xsd:string) AnnotationAssertion( "DOID:9000865"^^xsd:string) AnnotationAssertion(rdfs:label "Amastia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mauriac Syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome"^^xsd:string) AnnotationAssertion( "Mauriac's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000866"^^xsd:string) AnnotationAssertion(rdfs:label "Mauriac Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 86) AnnotationAssertion( "An autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Caused by homozygous mutation in the SPPL2A gene on chromosome 15q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-15T14:31:16Z"^^xsd:string) AnnotationAssertion( "MIM:619549"^^xsd:string) AnnotationAssertion( "IMD86"^^xsd:string) AnnotationAssertion( "immunodeficiency 86, mycobacteriosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000868"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 86"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cole Disease) AnnotationAssertion( "MIM:615522"^^xsd:string) AnnotationAssertion( "COLED"^^xsd:string) AnnotationAssertion( "GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000869"^^xsd:string) AnnotationAssertion(rdfs:label "Cole Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glossopharyngeal Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061287"^^xsd:string) "Traumatic injuries to the GLOSSOPHARYNGEAL NERVE."^^xsd:string) AnnotationAssertion( "RDO:0010068"^^xsd:string) AnnotationAssertion( "MESH:D061287"^^xsd:string) AnnotationAssertion( "Cranial Nerve IX Injury"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Contusion"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Contusions"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Injury"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Transection"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Transections"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Trauma"^^xsd:string) AnnotationAssertion( "Glossopharyngeal Nerve Traumas"^^xsd:string) AnnotationAssertion( "Ninth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Ninth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Ninth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Ninth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Glossopharyngeal Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Glossopharyngeal Neuropathy"^^xsd:string) AnnotationAssertion( "Traumatic Ninth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Ninth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000871"^^xsd:string) AnnotationAssertion(rdfs:label "Glossopharyngeal Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 6C) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-09T09:47:33Z"^^xsd:string) AnnotationAssertion( "MIM:618511"^^xsd:string) AnnotationAssertion( "CMT6C"^^xsd:string) AnnotationAssertion( "HMSN VIC"^^xsd:string) AnnotationAssertion( "HMSN6C"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type VIC"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type VIC, with optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000872"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 6C"^^xsd:string) SubClassOf( ) # Class: (Adenoviridae Infections) AnnotationAssertion(Annotation( "MESH:D000257"^^xsd:string) "Virus diseases caused by the ADENOVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:1001259"^^xsd:string) AnnotationAssertion( "MESH:D000257"^^xsd:string) AnnotationAssertion( "RDO:0004743"^^xsd:string) AnnotationAssertion( "Adenoviridae Infection"^^xsd:string) AnnotationAssertion( "Adenovirus Infection"^^xsd:string) AnnotationAssertion( "Adenovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000873"^^xsd:string) AnnotationAssertion(rdfs:label "Adenoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Hyperparathyroidism, Neonatal Severe Primary) AnnotationAssertion( "MIM:239200"^^xsd:string) AnnotationAssertion( "MESH:C563375"^^xsd:string) AnnotationAssertion( "NCI:C131853"^^xsd:string) AnnotationAssertion( "HYPERPARATHYROIDISM, NEONATAL SEVERE"^^xsd:string) AnnotationAssertion( "NHPT"^^xsd:string) AnnotationAssertion( "NSHPT"^^xsd:string) AnnotationAssertion( "NSPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000874"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperparathyroidism, Neonatal Severe Primary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fructose Metabolism, Inborn Errors) AnnotationAssertion(Annotation( "MESH:D015318"^^xsd:string) "Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test."^^xsd:string) AnnotationAssertion( "MESH:D015318"^^xsd:string) AnnotationAssertion( "RDO:0004002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000875"^^xsd:string) AnnotationAssertion(rdfs:label "Fructose Metabolism, Inborn Errors"^^xsd:string) SubClassOf( ) # Class: (DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619955"^^xsd:string) "This disease is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-06T11:54:16Z"^^xsd:string) AnnotationAssertion( "MIM:619955"^^xsd:string) AnnotationAssertion( "DWOPNED"^^xsd:string) AnnotationAssertion( "PLXNA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PLXNA1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000876"^^xsd:string) AnnotationAssertion(rdfs:label "DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Rhinosinusitis, Allergic Fungal) AnnotationAssertion( "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to an allergic reaction to aerosolized environmental fungi, usually of the dematiaceous species, in an immunocompetent host."^^xsd:string) AnnotationAssertion( "AFRS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AFS"^^xsd:string) AnnotationAssertion( "Allergic Fungal Sinusitis"^^xsd:string) AnnotationAssertion( "DOID:9000877"^^xsd:string) AnnotationAssertion(rdfs:label "Rhinosinusitis, Allergic Fungal"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Negative Rheumatoid Factor Polyarthritis) AnnotationAssertion( "MESH:C538347"^^xsd:string) AnnotationAssertion( "RDO:0004314"^^xsd:string) AnnotationAssertion( "RF-ve CP"^^xsd:string) AnnotationAssertion( "Rheumatoid factor negative erosive chronic polyarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000879"^^xsd:string) AnnotationAssertion(rdfs:label "Negative Rheumatoid Factor Polyarthritis"^^xsd:string) SubClassOf( ) # Class: (Cataract Ataxia Deafness) AnnotationAssertion( "MIM:212710"^^xsd:string) AnnotationAssertion( "MESH:C538283"^^xsd:string) AnnotationAssertion( "Begeer syndrome"^^xsd:string) AnnotationAssertion( "Cataract ataxia deafness syndrome"^^xsd:string) AnnotationAssertion( "Cataract-ataxia-deafness-retardation syndrome"^^xsd:string) AnnotationAssertion( "Polyneuropathy-Cataract-Deafness Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000880"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract Ataxia Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudohypoparathyroidism Type IC) AnnotationAssertion( "MIM:612462"^^xsd:string) AnnotationAssertion( "RDO:0004656"^^xsd:string) AnnotationAssertion( "MESH:C548076"^^xsd:string) AnnotationAssertion( "PHP IC"^^xsd:string) AnnotationAssertion( "PHP1C"^^xsd:string) AnnotationAssertion( "Pseudohypoparathyroidism Type 1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000882"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoparathyroidism Type IC"^^xsd:string) SubClassOf( ) # Class: (Familial Reactive Perforating Collagenosis) AnnotationAssertion( "MIM:216700"^^xsd:string) AnnotationAssertion( "MESH:C565687"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000883"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Reactive Perforating Collagenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rhabdomyolysis) AnnotationAssertion(Annotation( "MESH:D012206"^^xsd:string) "Necrosis or disintegration of skeletal muscle often followed by myoglobinuria."^^xsd:string) AnnotationAssertion( "MIM:620235"^^xsd:string) AnnotationAssertion( "EFO:0003867"^^xsd:string) AnnotationAssertion( "MESH:D012206"^^xsd:string) AnnotationAssertion( "OBSCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Rhabdomyolyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RHABDO1"^^xsd:string) AnnotationAssertion( "Rhabdomyolysis, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:9000884"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabdomyolysis"^^xsd:string) SubClassOf( ) # Class: (Macrosomia with Lethal Microphthalmia) AnnotationAssertion( "MIM:248110"^^xsd:string) AnnotationAssertion( "MESH:C537830"^^xsd:string) AnnotationAssertion( "Macrosomia microphthalmia cleft palate"^^xsd:string) AnnotationAssertion( "Teebi Al-Saleh Hassoon syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000885"^^xsd:string) AnnotationAssertion(rdfs:label "Macrosomia with Lethal Microphthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Roifman-Chitayat Syndrome) AnnotationAssertion( "Thios disease is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections."^^xsd:string) AnnotationAssertion( "MIM:613328"^^xsd:string) AnnotationAssertion( "MESH:C567641"^^xsd:string) AnnotationAssertion( "ROCHIS"^^xsd:string) AnnotationAssertion( "ROIFMAN-CHITAYAT SYNDROME, DIGENIC"^^xsd:string) AnnotationAssertion( "combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000886"^^xsd:string) AnnotationAssertion(rdfs:label "Roifman-Chitayat Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Muscular Dystrophy, Animal) AnnotationAssertion(Annotation( "MESH:D009137"^^xsd:string) "MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals."^^xsd:string) AnnotationAssertion( "MESH:D009137"^^xsd:string) AnnotationAssertion( "RDO:0006157"^^xsd:string) AnnotationAssertion( "Animal Muscular Dystrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000887"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Animal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pregnancy in Diabetics) AnnotationAssertion(Annotation( "MESH:D011254"^^xsd:string) "The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy."^^xsd:string) AnnotationAssertion( "MESH:D011254"^^xsd:string) AnnotationAssertion( "RDO:0002156"^^xsd:string) AnnotationAssertion( "Pregnancy in Diabete"^^xsd:string) AnnotationAssertion( "Pregnancy in Diabetes"^^xsd:string) AnnotationAssertion( "Pregnancy in Diabetic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000888"^^xsd:string) AnnotationAssertion(rdfs:label "Pregnancy in Diabetics"^^xsd:string) SubClassOf( ) # Class: (Escherichia Coli Meningitis) AnnotationAssertion(Annotation( "MESH:D020814"^^xsd:string) "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)"^^xsd:string) AnnotationAssertion( "EFO:1000929"^^xsd:string) AnnotationAssertion( "MESH:D020814"^^xsd:string) AnnotationAssertion( "Escherichia coli Meningitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000889"^^xsd:string) AnnotationAssertion(rdfs:label "Escherichia Coli Meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones) AnnotationAssertion( "MIM:157800"^^xsd:string) AnnotationAssertion( "MESH:C563572"^^xsd:string) AnnotationAssertion( "NCI:C188216"^^xsd:string) AnnotationAssertion( "CARDIOSPONDYLOCARPOFACIAL SYNDROME"^^xsd:string) AnnotationAssertion( "CSCF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000890"^^xsd:string) AnnotationAssertion(rdfs:label "Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Bilateral Parotidomegaly) AnnotationAssertion( "MIM:168800"^^xsd:string) AnnotationAssertion( "MESH:C566821"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000891"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Bilateral Parotidomegaly"^^xsd:string) SubClassOf( ) # Class: (Fetal Distress) AnnotationAssertion(Annotation( "MESH:D005316"^^xsd:string) "A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters."^^xsd:string) AnnotationAssertion( "MESH:D005316"^^xsd:string) AnnotationAssertion( "Nonreassuring Fetal Status"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000892"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Distress"^^xsd:string) SubClassOf( ) # Class: (High-Frequency Deafness, Sensorineural, X-Linked) AnnotationAssertion( "MESH:C564432"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000893"^^xsd:string) AnnotationAssertion(rdfs:label "High-Frequency Deafness, Sensorineural, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Skin Neoplasms, Epithelial) AnnotationAssertion( "A benign proliferation or tumor of epithelial origin in the skin."^^xsd:string) AnnotationAssertion( "RDO:9000114"^^xsd:string) AnnotationAssertion( "Benign epithelial neoplasm of skin"^^xsd:string) AnnotationAssertion( "Benign tumor of surface epithelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000894"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Skin Neoplasms, Epithelial"^^xsd:string) SubClassOf( ) # Class: (Preterm Intraventricular Hemorrhage) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-09T11:27:14Z"^^xsd:string) AnnotationAssertion( "ClinVar:VCV001077148.1"^^xsd:string) AnnotationAssertion( "GRADE 1 PRETERM INTRAVENTRICULAR HEMORRHAGE"^^xsd:string) AnnotationAssertion( "GRADE I PRETERM INTRAVENTRICULAR HEMORRHAGE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000895"^^xsd:string) AnnotationAssertion(rdfs:label "Preterm Intraventricular Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Larsen-Like Syndromes) AnnotationAssertion( "MIM:608545"^^xsd:string) AnnotationAssertion( "RDO:0013043"^^xsd:string) AnnotationAssertion( "MESH:C563914"^^xsd:string) AnnotationAssertion( "LRSL"^^xsd:string) AnnotationAssertion( "Larsen-Like Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000896"^^xsd:string) AnnotationAssertion(rdfs:label "Larsen-Like Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME) AnnotationAssertion(Annotation( "MIM:618974"^^xsd:string) "A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development with language delay, and mild dysmorphic features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-14T17:26:44Z"^^xsd:string) AnnotationAssertion( "MIM:618974"^^xsd:string) AnnotationAssertion( "LIGOWS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000897"^^xsd:string) AnnotationAssertion(rdfs:label "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism) AnnotationAssertion( "MIM:601217"^^xsd:string) AnnotationAssertion( "MESH:C563370"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000898"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Axonal Type 2II) AnnotationAssertion(Annotation( "MIM:620068"^^xsd:string) "An autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Caused by heterozygous mutation in the SLC12A6 gene on chromosome 15q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-10T15:29:52Z"^^xsd:string) AnnotationAssertion( "MIM:620068"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II"^^xsd:string) AnnotationAssertion( "CMT2II"^^xsd:string) AnnotationAssertion( "SLC12A6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000899"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Axonal Type 2II"^^xsd:string) SubClassOf( ) # Class: (Delusional Parasitosis) AnnotationAssertion(Annotation( "MESH:D063726"^^xsd:string) "A delusional disorder of belief in infestation by insects or other parasites. This FORMICATION is typically accompanied by dermatological manifestation such as PRURITUS that may lead to self-mutilation in order to remove the perceived parasites. It can be either primary or secondary to a somatic or psychiatric condition."^^xsd:string) AnnotationAssertion( "MESH:D063726"^^xsd:string) AnnotationAssertion( "Delusional Parasitoses"^^xsd:string) AnnotationAssertion( "Delusory Parasitoses"^^xsd:string) AnnotationAssertion( "Delusory Parasitosis"^^xsd:string) AnnotationAssertion( "Dermatozoic Delusion"^^xsd:string) AnnotationAssertion( "Dermatozoic Delusions"^^xsd:string) AnnotationAssertion( "Ekbom Delusional Parasitoses"^^xsd:string) AnnotationAssertion( "Ekbom Delusional Parasitosis"^^xsd:string) AnnotationAssertion( "Ekbom Delusory Parasitoses"^^xsd:string) AnnotationAssertion( "Ekbom Delusory Parasitosis"^^xsd:string) AnnotationAssertion( "Ekbom Dermatozoic Delusion"^^xsd:string) AnnotationAssertion( "Ekbom Dermatozoic Delusions"^^xsd:string) AnnotationAssertion( "Ekbom Psychogenic Parasitoses"^^xsd:string) AnnotationAssertion( "Ekbom Psychogenic Parasitosis"^^xsd:string) AnnotationAssertion( "Psychogenic Parasitoses"^^xsd:string) AnnotationAssertion( "Psychogenic Parasitosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000900"^^xsd:string) AnnotationAssertion(rdfs:label "Delusional Parasitosis"^^xsd:string) SubClassOf( ) # Class: (Inert Gas Narcosis) AnnotationAssertion(Annotation( "MESH:D007222"^^xsd:string) "Progressive mental disturbances and unconsciousness due to breathing mixtures of oxygen and inert gases (argon, helium, xenon, krypton, and atmospheric nitrogen) at high pressure."^^xsd:string) AnnotationAssertion( "MESH:D007222"^^xsd:string) AnnotationAssertion( "Depth Intoxication"^^xsd:string) AnnotationAssertion( "Depth Intoxications"^^xsd:string) AnnotationAssertion( "Inert Gas Narcoses"^^xsd:string) AnnotationAssertion( "Nitrogen Narcoses"^^xsd:string) AnnotationAssertion( "Nitrogen Narcosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000901"^^xsd:string) AnnotationAssertion(rdfs:label "Inert Gas Narcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Surgical Blood Loss) AnnotationAssertion(Annotation( "MESH:D016063"^^xsd:string) "Loss of blood during a surgical procedure."^^xsd:string) AnnotationAssertion( "MESH:D016063"^^xsd:string) AnnotationAssertion( "Surgical Hemorrhage"^^xsd:string) AnnotationAssertion( "surgical blood losses"^^xsd:string) AnnotationAssertion( "surgical hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000902"^^xsd:string) AnnotationAssertion(rdfs:label "Surgical Blood Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Methemoglobin Reductase Deficiency) AnnotationAssertion( "MIM:250700"^^xsd:string) AnnotationAssertion( "MESH:C563171"^^xsd:string) AnnotationAssertion( "NADPH-dependent methemoglobin reductase deficiency"^^xsd:string) AnnotationAssertion( "TPNH-methemoglobin reductase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000903"^^xsd:string) AnnotationAssertion(rdfs:label "Methemoglobin Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Yemenite Deaf-Blind Hypopigmentation Syndrome) AnnotationAssertion( "MIM:601706"^^xsd:string) AnnotationAssertion( "MESH:C536771"^^xsd:string) AnnotationAssertion( "RDO:0002453"^^xsd:string) AnnotationAssertion( "Warburg Thomsen syndrome"^^xsd:string) AnnotationAssertion( "Yemenite (Warburg) deaf-blind hypopigmentation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000904"^^xsd:string) AnnotationAssertion(rdfs:label "Yemenite Deaf-Blind Hypopigmentation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tenorio Syndrome) AnnotationAssertion( "A syndrome characterized by overgrowth, macrocephaly, and intellectual disability. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616260"^^xsd:string) AnnotationAssertion( "OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "RNF125-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TNORS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000905"^^xsd:string) AnnotationAssertion(rdfs:label "Tenorio Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oropharyngeal Neoplasms) AnnotationAssertion(Annotation( "MESH:D009959"^^xsd:string) "Tumors or cancer of the OROPHARYNX."^^xsd:string) AnnotationAssertion( "RDO:0006247"^^xsd:string) AnnotationAssertion( "MESH:D009959"^^xsd:string) AnnotationAssertion( "Oropharyngeal Neoplasm"^^xsd:string) AnnotationAssertion( "oropharynx neoplasm"^^xsd:string) AnnotationAssertion( "oropharynx neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000906"^^xsd:string) AnnotationAssertion(rdfs:label "Oropharyngeal Neoplasms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Gastric Fistula) AnnotationAssertion(Annotation( "MESH:D005747"^^xsd:string) "Abnormal passage communicating with the STOMACH."^^xsd:string) AnnotationAssertion( "MESH:D005747"^^xsd:string) AnnotationAssertion( "Stomach Fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000908"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Fistula"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Elliptocytosis, Atypical) AnnotationAssertion( "MESH:C565598"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000910"^^xsd:string) AnnotationAssertion(rdfs:label "Elliptocytosis, Atypical"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 60) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-18T09:02:08Z"^^xsd:string) AnnotationAssertion( "EFO:0010566"^^xsd:string) AnnotationAssertion( "MIM:618587"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Mental Retardation 60"^^xsd:string) AnnotationAssertion( "MRD60"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 60 with seizures"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 60 with seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000911"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 60"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate) AnnotationAssertion(Annotation( "MIM:618384"^^xsd:string) "An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-13T13:31:43Z"^^xsd:string) AnnotationAssertion( "EFO:0010262"^^xsd:string) AnnotationAssertion( "MIM:618384"^^xsd:string) AnnotationAssertion( "ARLIAK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000912"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 18 Ring) AnnotationAssertion( "MESH:C538304"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000913"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18 Ring"^^xsd:string) SubClassOf( ) # Class: (Pachyonychia Congenita 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615726"^^xsd:string) AnnotationAssertion( "PC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000914"^^xsd:string) AnnotationAssertion(rdfs:label "Pachyonychia Congenita 3"^^xsd:string) SubClassOf( ) # Class: (Angiofibroma) AnnotationAssertion(Annotation( "MESH:D018322"^^xsd:string) "A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001761"^^xsd:string) AnnotationAssertion( "MESH:D018322"^^xsd:string) AnnotationAssertion( "Angiofibromas"^^xsd:string) AnnotationAssertion( "ANGIOFIBROMA, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000915"^^xsd:string) AnnotationAssertion(rdfs:label "Angiofibroma"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group D) AnnotationAssertion( "MESH:C566388"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000916"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group D"^^xsd:string) SubClassOf( ) # Class: (Amoebic Dysentery due to Entamoeba Histolytica) AnnotationAssertion( "MESH:C539067"^^xsd:string) AnnotationAssertion( "RDO:0004603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000917"^^xsd:string) AnnotationAssertion(rdfs:label "Amoebic Dysentery due to Entamoeba Histolytica"^^xsd:string) SubClassOf( ) # Class: (Disease Progression) AnnotationAssertion(Annotation( "MESH:D018450"^^xsd:string) "The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis."^^xsd:string) AnnotationAssertion( "MESH:D018450"^^xsd:string) AnnotationAssertion( "Disease Exacerbation"^^xsd:string) AnnotationAssertion( "Disease Progressions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000918"^^xsd:string) AnnotationAssertion(rdfs:label "Disease Progression"^^xsd:string) SubClassOf( ) # Class: (Tranebjaerg Svejgaard syndrome) AnnotationAssertion( "RDO:0002715"^^xsd:string) AnnotationAssertion( "MESH:C536978"^^xsd:string) AnnotationAssertion( "X-linked mental retardation associated with psoriasis"^^xsd:string) AnnotationAssertion( "mental retardation X-linked, Tranebjaerg type seizures and psoriasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000919"^^xsd:string) AnnotationAssertion(rdfs:label "Tranebjaerg Svejgaard syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anterior Cruciate Ligament Injuries) AnnotationAssertion(Annotation( "MESH:D000070598"^^xsd:string) "Sprain or tear injuries to the ANTERIOR CRUCIATE LIGAMENT of the knee."^^xsd:string) AnnotationAssertion( "MESH:D000070598"^^xsd:string) AnnotationAssertion( "RDO:0016061"^^xsd:string) AnnotationAssertion( "ACL Injuries"^^xsd:string) AnnotationAssertion( "ACL Injury"^^xsd:string) AnnotationAssertion( "ACL Tear"^^xsd:string) AnnotationAssertion( "ACL Tears"^^xsd:string) AnnotationAssertion( "Anterior Cruciate Ligament Injury"^^xsd:string) AnnotationAssertion( "Anterior Cruciate Ligament Tear"^^xsd:string) AnnotationAssertion( "Anterior Cruciate Ligament Tears"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000920"^^xsd:string) AnnotationAssertion(rdfs:label "Anterior Cruciate Ligament Injuries"^^xsd:string) SubClassOf( ) # Class: (Crush Syndrome) AnnotationAssertion(Annotation( "MESH:D003444"^^xsd:string) "Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia."^^xsd:string) AnnotationAssertion( "EFO:1001299"^^xsd:string) AnnotationAssertion( "MESH:D003444"^^xsd:string) AnnotationAssertion( "RDO:0005298"^^xsd:string) AnnotationAssertion( "Crush Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000921"^^xsd:string) AnnotationAssertion(rdfs:label "Crush Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 5, Trisomy 5pter p13 3) AnnotationAssertion( "MESH:C537649"^^xsd:string) AnnotationAssertion( "RDO:0003526"^^xsd:string) AnnotationAssertion( "Duplication 5pter p13.3"^^xsd:string) AnnotationAssertion( "Trisomy 5pter p13 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000922"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 5, Trisomy 5pter p13 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 12) AnnotationAssertion( "RDO:9000721"^^xsd:string) AnnotationAssertion( "JBTS12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000923"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gastrointestinal Motility Disorders) AnnotationAssertion( "Disorders affecting the motor function of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "ESOPHAGEAL AND COLONIC DYSMOTILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000924"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrointestinal Motility Disorders"^^xsd:string) SubClassOf( ) # Class: (McPherson Robertson Cammarano Syndrome) AnnotationAssertion( "MESH:C538161"^^xsd:string) AnnotationAssertion( "RDO:0004101"^^xsd:string) AnnotationAssertion( "Dominantly inherited ptosis, strabismus and ectopic pupils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000925"^^xsd:string) AnnotationAssertion(rdfs:label "McPherson Robertson Cammarano Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visceroatrial Heterotaxy, Autosomal Recessive) AnnotationAssertion( "MESH:C566864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000926"^^xsd:string) AnnotationAssertion(rdfs:label "Visceroatrial Heterotaxy, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Alveolar Bone Loss) AnnotationAssertion(Annotation( "MESH:D016301"^^xsd:string) "Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE."^^xsd:string) AnnotationAssertion( "MESH:D016301"^^xsd:string) AnnotationAssertion( "RDO:0006950"^^xsd:string) AnnotationAssertion( "Alveolar Bone Atrophies"^^xsd:string) AnnotationAssertion( "Alveolar Bone Atrophy"^^xsd:string) AnnotationAssertion( "Alveolar Bone Losses"^^xsd:string) AnnotationAssertion( "Alveolar Process Atrophies"^^xsd:string) AnnotationAssertion( "Alveolar Process Atrophy"^^xsd:string) AnnotationAssertion( "Alveolar Resorption"^^xsd:string) AnnotationAssertion( "Alveolar Resorptions"^^xsd:string) AnnotationAssertion( "Periodontal Bone Loss"^^xsd:string) AnnotationAssertion( "Periodontal Bone Losses"^^xsd:string) AnnotationAssertion( "Periodontal Resorption"^^xsd:string) AnnotationAssertion( "Periodontal Resorptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000927"^^xsd:string) AnnotationAssertion(rdfs:label "Alveolar Bone Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Central Nervous System Helminthiasis) AnnotationAssertion(Annotation( "MESH:D020809"^^xsd:string) "Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)."^^xsd:string) AnnotationAssertion( "RDO:0007306"^^xsd:string) AnnotationAssertion( "EFO:1001773"^^xsd:string) AnnotationAssertion( "MESH:D020809"^^xsd:string) AnnotationAssertion( "Cerebral Helminthiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000928"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Helminthiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hallux Rigidus) AnnotationAssertion(Annotation( "MESH:D020859"^^xsd:string) "A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion."^^xsd:string) AnnotationAssertion( "MESH:D020859"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000929"^^xsd:string) AnnotationAssertion(rdfs:label "Hallux Rigidus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dental Pulp Exposure) AnnotationAssertion(Annotation( "MESH:D003789"^^xsd:string) "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment."^^xsd:string) AnnotationAssertion( "EFO:1001782"^^xsd:string) AnnotationAssertion( "MESH:D003789"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000930"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Pulp Exposure"^^xsd:string) SubClassOf( ) # Class: (Ophthalmoplegic Migraine) AnnotationAssertion(Annotation( "MESH:D060486"^^xsd:string) "Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are involved with DIPLOPIA and BLEPHAROPTOSIS."^^xsd:string) AnnotationAssertion( "RDO:0010040"^^xsd:string) AnnotationAssertion( "MESH:D060486"^^xsd:string) AnnotationAssertion( "Ophthalmoplegic Migraine Syndrome"^^xsd:string) AnnotationAssertion( "Ophthalmoplegic Migraine Syndromes"^^xsd:string) AnnotationAssertion( "Ophthalmoplegic Migraines"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000931"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmoplegic Migraine"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (African Horse Sickness) AnnotationAssertion(Annotation( "MESH:D000355"^^xsd:string) "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck."^^xsd:string) AnnotationAssertion( "MESH:D000355"^^xsd:string) AnnotationAssertion( "RDO:0004769"^^xsd:string) AnnotationAssertion( "African Horse Sicknesses"^^xsd:string) AnnotationAssertion( "African Horsesickness"^^xsd:string) AnnotationAssertion( "African Horsesicknesses"^^xsd:string) AnnotationAssertion( "Equine Plague"^^xsd:string) AnnotationAssertion( "Equine Plagues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000932"^^xsd:string) AnnotationAssertion(rdfs:label "African Horse Sickness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leukemoid Reaction) AnnotationAssertion(Annotation( "MESH:D007955"^^xsd:string) "A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001014"^^xsd:string) AnnotationAssertion( "MESH:D007955"^^xsd:string) AnnotationAssertion( "Leukemoid Reactions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000933"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemoid Reaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sprains and Strains) AnnotationAssertion(Annotation( "MESH:D013180"^^xsd:string) "A collective term for muscle and ligament injuries without dislocation or fracture. A sprain is a joint injury in which some of the fibers of a supporting ligament are ruptured but the continuity of the ligament remains intact. A strain is an overstretching or overexertion of some part of the musculature."^^xsd:string) AnnotationAssertion( "EFO:0005135"^^xsd:string) AnnotationAssertion( "EFO:0009582"^^xsd:string) AnnotationAssertion( "MESH:D013180"^^xsd:string) AnnotationAssertion( "Sprain"^^xsd:string) AnnotationAssertion( "Strain"^^xsd:string) AnnotationAssertion( "sprains"^^xsd:string) AnnotationAssertion( "strains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000934"^^xsd:string) AnnotationAssertion(rdfs:label "Sprains and Strains"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d) AnnotationAssertion( "RDO:0014663"^^xsd:string) AnnotationAssertion( "MESH:C566261"^^xsd:string) AnnotationAssertion( "DYSBETALIPOPROTEINEMIA DUE TO APOE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000936"^^xsd:string) AnnotationAssertion(rdfs:label "Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d"^^xsd:string) SubClassOf( ) # Class: (breast hyperplasia) AnnotationAssertion(Annotation( "EFO:0008492"^^xsd:string) "This refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-27T10:55:33Z"^^xsd:string) AnnotationAssertion( "EFO:0008492"^^xsd:string) AnnotationAssertion( "mammary hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000937"^^xsd:string) AnnotationAssertion(rdfs:label "breast hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Sudden Infant Death with Dysgenesis of the Testes Syndrome) AnnotationAssertion( "MIM:608800"^^xsd:string) AnnotationAssertion( "MESH:C563856"^^xsd:string) AnnotationAssertion( "SIDDT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000938"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Infant Death with Dysgenesis of the Testes Syndrome"^^xsd:string) SubClassOf( ) # Class: (Split Hand, Split Foot, Nystagmus) AnnotationAssertion( "MIM:183800"^^xsd:string) AnnotationAssertion( "MESH:C537319"^^xsd:string) AnnotationAssertion( "Karsch-Neugebauer syndrome"^^xsd:string) AnnotationAssertion( "Nystagmus-Split Hand Syndrome"^^xsd:string) AnnotationAssertion( "Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000939"^^xsd:string) AnnotationAssertion(rdfs:label "Split Hand, Split Foot, Nystagmus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytosis, Benign Familial Microcytic) AnnotationAssertion( "MESH:C566596"^^xsd:string) AnnotationAssertion( "RDO:0014909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000940"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytosis, Benign Familial Microcytic"^^xsd:string) SubClassOf( ) # Class: (Elliptocytosis 2) AnnotationAssertion( "MIM:130600"^^xsd:string) AnnotationAssertion( "MESH:C565058"^^xsd:string) AnnotationAssertion( "EL2"^^xsd:string) AnnotationAssertion( "Elliptocytosis, Rhesus-Unlinked Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000941"^^xsd:string) AnnotationAssertion(rdfs:label "Elliptocytosis 2"^^xsd:string) SubClassOf( ) # Class: (Actinic Prurigo) AnnotationAssertion( "MIM:174770"^^xsd:string) AnnotationAssertion( "MESH:C566780"^^xsd:string) AnnotationAssertion( "Polymorphic Light Eruption, Hereditary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000942"^^xsd:string) AnnotationAssertion(rdfs:label "Actinic Prurigo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 11) AnnotationAssertion( "RDO:9001625"^^xsd:string) AnnotationAssertion( "MIM:617194"^^xsd:string) AnnotationAssertion( "GLDN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LCCS11"^^xsd:string) AnnotationAssertion( "lethal congenital contracture arthrogryposis-11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000943"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 11"^^xsd:string) SubClassOf( ) # Class: (Primary Congenital Glaucoma 3, C) AnnotationAssertion( "MIM:613085"^^xsd:string) AnnotationAssertion( "GLC3C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000944"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Congenital Glaucoma 3, C"^^xsd:string) SubClassOf( ) # Class: (Ventilator-Induced Lung Injury) AnnotationAssertion(Annotation( "MESH:D055397"^^xsd:string) "Lung damage that is caused by the adverse effects of PULMONARY VENTILATOR usage. The high frequency and tidal volumes produced by a mechanical ventilator can cause alveolar disruption and PULMONARY EDEMA."^^xsd:string) AnnotationAssertion( "MESH:D055397"^^xsd:string) AnnotationAssertion( "RDO:0005074"^^xsd:string) AnnotationAssertion( "Ventilator-Induced Lung Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000945"^^xsd:string) AnnotationAssertion(rdfs:label "Ventilator-Induced Lung Injury"^^xsd:string) SubClassOf( ) # Class: (Schilbach-Rott Syndrome) AnnotationAssertion( "MIM:164220"^^xsd:string) AnnotationAssertion( "MESH:C563509"^^xsd:string) AnnotationAssertion( "SBRS"^^xsd:string) AnnotationAssertion( "blepharofacioskeletal syndrome"^^xsd:string) AnnotationAssertion( "cleft palate, hypotelorism, and hypospadias"^^xsd:string) AnnotationAssertion( "ocular hypotelorism, submucosal cleft palate, and hypospadias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000946"^^xsd:string) AnnotationAssertion(rdfs:label "Schilbach-Rott Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM) AnnotationAssertion( "MIM:300123"^^xsd:string) AnnotationAssertion( "MESH:C567485"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, X-LINKED, WITH PANHYPOPITUITARISM"^^xsd:string) AnnotationAssertion( "X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY"^^xsd:string) AnnotationAssertion( "X-Linked Mental Retardation with Panhypopituitarism"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder with isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "MRGH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000947"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central nervous system toxicity) AnnotationAssertion(Annotation( "EFO:0011047"^^xsd:string) "This disease state involves injury to the central nervous system or damage to its function. The damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, dyskinesia, tremor, convulsions and Parkinson's disease."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-12T15:52:52Z"^^xsd:string) AnnotationAssertion( "EFO:0011047"^^xsd:string) AnnotationAssertion( "CNS toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000948"^^xsd:string) AnnotationAssertion(rdfs:label "central nervous system toxicity"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES) AnnotationAssertion(Annotation( "MIM:617991"^^xsd:string) "A disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-18T16:29:29Z"^^xsd:string) AnnotationAssertion( "MIM:617991"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM"^^xsd:string) AnnotationAssertion( "DIDOD"^^xsd:string) AnnotationAssertion( "PHIP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PHIP-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000949"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome) AnnotationAssertion(Annotation( "MIM:618343"^^xsd:string) "An autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-06T08:08:14Z"^^xsd:string) AnnotationAssertion( "COL3A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618343"^^xsd:string) AnnotationAssertion( "PMGEDSV"^^xsd:string) AnnotationAssertion( "Polymicrogyria with or without vascular-type EDS"^^xsd:string) AnnotationAssertion( "POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000950"^^xsd:string) AnnotationAssertion(rdfs:label "Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis) AnnotationAssertion( "MIM:614224"^^xsd:string) AnnotationAssertion( "RAMSVPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "retinal arterial macroaneurysm with supravascular pulmonic stenosis"^^xsd:string) AnnotationAssertion( "DOID:9000951"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycine Encephalopathy 2) AnnotationAssertion(Annotation( "MIM:620398"^^xsd:string) "A glycine encephalopathy caused by homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-14T14:37:11Z"^^xsd:string) AnnotationAssertion( "MIM:620398"^^xsd:string) AnnotationAssertion( "GCE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000953"^^xsd:string) AnnotationAssertion(rdfs:label "Glycine Encephalopathy 2"^^xsd:string) SubClassOf( ) # Class: (Parakeratosis) AnnotationAssertion(Annotation( "MESH:D010241"^^xsd:string) "Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "OMIA:001373"^^xsd:string) AnnotationAssertion( "MESH:D010241"^^xsd:string) AnnotationAssertion( "Parakeratoses"^^xsd:string) AnnotationAssertion( "Nasal parakeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000954"^^xsd:string) AnnotationAssertion(rdfs:label "Parakeratosis"^^xsd:string) SubClassOf( ) # Class: (Acute Otitis Media) AnnotationAssertion( "Acute inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE."^^xsd:string) AnnotationAssertion( "RDO:9000526"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000955"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Otitis Media"^^xsd:string) SubClassOf( ) # Class: (Hyperlipoproteinemia Type II, and Deafness) AnnotationAssertion( "MIM:144300"^^xsd:string) AnnotationAssertion( "MESH:C564170"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000956"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipoproteinemia Type II, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymphatic malformation 6) AnnotationAssertion( "A form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. (OMIM)"^^xsd:string) AnnotationAssertion( "PIEZO1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009153"^^xsd:string) AnnotationAssertion( "MIM:616843"^^xsd:string) AnnotationAssertion( "DIFFUSE LYMPHATIC MALFORMATION"^^xsd:string) AnnotationAssertion( "GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU"^^xsd:string) AnnotationAssertion( "Hereditary Lymphedema III"^^xsd:string) AnnotationAssertion( "LMPH3"^^xsd:string) AnnotationAssertion( "LMPHM6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000957"^^xsd:string) AnnotationAssertion(rdfs:label "lymphatic malformation 6"^^xsd:string) SubClassOf( ) # Class: (Popliteal Cyst) AnnotationAssertion(Annotation( "MESH:D011151"^^xsd:string) "A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint."^^xsd:string) AnnotationAssertion( "MIM:175750"^^xsd:string) AnnotationAssertion( "MESH:D011151"^^xsd:string) AnnotationAssertion( "Baker Cyst"^^xsd:string) AnnotationAssertion( "Baker cysts"^^xsd:string) AnnotationAssertion( "Baker's Cyst"^^xsd:string) AnnotationAssertion( "popliteal cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000958"^^xsd:string) AnnotationAssertion(rdfs:label "Popliteal Cyst"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tubal Pregnancy) AnnotationAssertion(Annotation( "MESH:D011274"^^xsd:string) "The most common (>96%) type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the FALLOPIAN TUBE, usually in the ampullary region where FERTILIZATION takes place."^^xsd:string) AnnotationAssertion( "MESH:D011274"^^xsd:string) AnnotationAssertion( "Tubal Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000960"^^xsd:string) AnnotationAssertion(rdfs:label "Tubal Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Pseudoachondroplastic Dysplasia 2) AnnotationAssertion( "MESH:C535820"^^xsd:string) AnnotationAssertion( "RDO:0001138"^^xsd:string) AnnotationAssertion( "Recessive pseudoachondroplasia"^^xsd:string) AnnotationAssertion( "Spondyloepiphyseal dysplasia pseudoachondroplastic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000961"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoachondroplastic Dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Snoring) AnnotationAssertion(Annotation( "MESH:D012913"^^xsd:string) "Rough, noisy breathing during sleep, due to vibration of the uvula and soft palate."^^xsd:string) AnnotationAssertion( "MESH:D012913"^^xsd:string) AnnotationAssertion( "Snorings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000962"^^xsd:string) AnnotationAssertion(rdfs:label "Snoring"^^xsd:string) SubClassOf( ) # Class: (Hereditary Epistaxis) AnnotationAssertion( "MIM:132500"^^xsd:string) AnnotationAssertion( "MESH:C562751"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000963"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Epistaxis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin) AnnotationAssertion( "MIM:601039"^^xsd:string) AnnotationAssertion( "MESH:C563402"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000964"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neoplasm Metastasis) AnnotationAssertion(Annotation( "MESH:D009362"^^xsd:string) "The transfer of a neoplasm from one organ or part of the body to another remote from the primary site."^^xsd:string) AnnotationAssertion( "EFO:0009708"^^xsd:string) AnnotationAssertion( "EFO:0009709"^^xsd:string) AnnotationAssertion( "EFO:0010941"^^xsd:string) AnnotationAssertion( "MESH:D009362"^^xsd:string) AnnotationAssertion( "Metastases"^^xsd:string) AnnotationAssertion( "Metastasis"^^xsd:string) AnnotationAssertion( "Neoplasm Metastases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000965"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm Metastasis"^^xsd:string) SubClassOf( ) # Class: (Night Terrors) AnnotationAssertion(Annotation( "MESH:D020184"^^xsd:string) "A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391)"^^xsd:string) AnnotationAssertion( "MESH:D020184"^^xsd:string) AnnotationAssertion( "RDO:0007330"^^xsd:string) AnnotationAssertion( "Adult Night Terror"^^xsd:string) AnnotationAssertion( "Adult Night Terrors"^^xsd:string) AnnotationAssertion( "Adult Pavor Nocturnus"^^xsd:string) AnnotationAssertion( "Childhood Night Terror"^^xsd:string) AnnotationAssertion( "Childhood Night Terrors"^^xsd:string) AnnotationAssertion( "Childhood Pavor Nocturnus"^^xsd:string) AnnotationAssertion( "Pavor Nocturnus"^^xsd:string) AnnotationAssertion( "Primary Night Terror"^^xsd:string) AnnotationAssertion( "Primary Night Terrors"^^xsd:string) AnnotationAssertion( "Secondary Night Terror"^^xsd:string) AnnotationAssertion( "Secondary Night Terrors"^^xsd:string) AnnotationAssertion( "Sleep Terror"^^xsd:string) AnnotationAssertion( "Sleep Terror Disorder"^^xsd:string) AnnotationAssertion( "Sleep Terrors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000966"^^xsd:string) AnnotationAssertion(rdfs:label "Night Terrors"^^xsd:string) SubClassOf( ) # Class: (Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development) AnnotationAssertion( "MIM:609579"^^xsd:string) AnnotationAssertion( "MESH:C566511"^^xsd:string) AnnotationAssertion( "Scaphocephaly, Maxillary Retrusion, and Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000967"^^xsd:string) AnnotationAssertion(rdfs:label "Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Thymoma) AnnotationAssertion( "MIM:274230"^^xsd:string) AnnotationAssertion( "MESH:C564767"^^xsd:string) AnnotationAssertion( "Thymic Neoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000968"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thymoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Focal Nodular Hyperplasia) AnnotationAssertion(Annotation( "MESH:D020518"^^xsd:string) "Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen."^^xsd:string) AnnotationAssertion( "MESH:D020518"^^xsd:string) AnnotationAssertion( "RDO:0007416"^^xsd:string) AnnotationAssertion( "Focal Nodular Hyperplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000970"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Nodular Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis Hystrix) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-28T09:57:49Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000971"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Hystrix"^^xsd:string) SubClassOf( ) # Class: (Fever) AnnotationAssertion(Annotation( "MESH:D005334"^^xsd:string) "An abnormal elevation of body temperature, usually as a result of a pathologic process."^^xsd:string) AnnotationAssertion( "MESH:D005334"^^xsd:string) AnnotationAssertion( "Fevers"^^xsd:string) AnnotationAssertion( "Hyperthermia"^^xsd:string) AnnotationAssertion( "Hyperthermias"^^xsd:string) AnnotationAssertion( "Pyrexia"^^xsd:string) AnnotationAssertion( "Pyrexias"^^xsd:string) AnnotationAssertion( "EPISODIC FEVER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000972"^^xsd:string) AnnotationAssertion(rdfs:label "Fever"^^xsd:string) SubClassOf( ) # Class: (Maternally Inherited Leigh Syndrome) AnnotationAssertion( "MESH:C536035"^^xsd:string) AnnotationAssertion( "RDO:0001449"^^xsd:string) AnnotationAssertion( "Leigh disease, maternally inherited"^^xsd:string) AnnotationAssertion( "Subacute necrotizing encephalomyelopathy maternally inherited"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000973"^^xsd:string) AnnotationAssertion(rdfs:label "Maternally Inherited Leigh Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Generalized Exanthematous Pustulosis) AnnotationAssertion(Annotation( "MESH:D056150"^^xsd:string) "Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of antibiotics (e.g., BETA-LACTAMS)."^^xsd:string) AnnotationAssertion( "MESH:D056150"^^xsd:string) AnnotationAssertion( "RDO:0007737"^^xsd:string) AnnotationAssertion( "Acute Localized Exanthematous Pustulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000974"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Generalized Exanthematous Pustulosis"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Krakow Type) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T15:23:43Z"^^xsd:string) AnnotationAssertion( "MIM:618162"^^xsd:string) AnnotationAssertion( "IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE"^^xsd:string) AnnotationAssertion( "SEMDK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000975"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Krakow Type"^^xsd:string) SubClassOf( ) # Class: (Trichoscyphodysplasia) AnnotationAssertion( "RDO:0002175"^^xsd:string) AnnotationAssertion( "MESH:C536557"^^xsd:string) AnnotationAssertion( "Cupped metaphyses and cone-shaped epiphyses with alopecia"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia"^^xsd:string) AnnotationAssertion( "metaphyseal chondrodysplasia with ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000976"^^xsd:string) AnnotationAssertion(rdfs:label "Trichoscyphodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Halitosis) AnnotationAssertion(Annotation( "MESH:D006209"^^xsd:string) "An offensive, foul breath odor resulting from a variety of causes such as poor oral hygiene, dental or oral infections, or the ingestion of certain foods."^^xsd:string) AnnotationAssertion( "MESH:D006209"^^xsd:string) AnnotationAssertion( "Halitoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000977"^^xsd:string) AnnotationAssertion(rdfs:label "Halitosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (49,XXXXX Syndrome) AnnotationAssertion( "MESH:C535319"^^xsd:string) AnnotationAssertion( "NCI:C89802"^^xsd:string) AnnotationAssertion( "Chromosome X pentasomy"^^xsd:string) AnnotationAssertion( "Chromosome XXXXX syndrome"^^xsd:string) AnnotationAssertion( "Penta-X syndrome"^^xsd:string) AnnotationAssertion( "Pentasomy X"^^xsd:string) AnnotationAssertion( "Pentasomy X syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000979"^^xsd:string) AnnotationAssertion(rdfs:label "49,XXXXX Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Martsolf Syndrome 2) AnnotationAssertion( "An autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Caused by homozygous mutation in the gene encoding the catalytic subunit of RAB3 GTPase-activating protein (RAB3GAP1) on chromosome 2q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-08T15:08:14Z"^^xsd:string) AnnotationAssertion( "RAB3GAP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RAB3GAP1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619420"^^xsd:string) AnnotationAssertion( "MARTS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000980"^^xsd:string) AnnotationAssertion(rdfs:label "Martsolf Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Dyskeratosis Congenita) AnnotationAssertion( "MESH:C565079"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000981"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Dyskeratosis Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pyruvate Dehydrogenase E1 Alpha Deficiency) AnnotationAssertion( "MESH:C564071"^^xsd:string) AnnotationAssertion( "Lactic Acidemia, Thiamine Responsive"^^xsd:string) AnnotationAssertion( "pyruvate decarboxylase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000982"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Dehydrogenase E1 Alpha Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Encephalocele) AnnotationAssertion(Annotation( "MESH:D004677"^^xsd:string) "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur."^^xsd:string) AnnotationAssertion( "MESH:D004677"^^xsd:string) AnnotationAssertion( "Acquired Encephalocele"^^xsd:string) AnnotationAssertion( "Acquired Encephaloceles"^^xsd:string) AnnotationAssertion( "Bifid Cranium"^^xsd:string) AnnotationAssertion( "Bifid Craniums"^^xsd:string) AnnotationAssertion( "Cephalocele"^^xsd:string) AnnotationAssertion( "Cephaloceles"^^xsd:string) AnnotationAssertion( "Cerebellar Hernia"^^xsd:string) AnnotationAssertion( "Cerebellar Hernias"^^xsd:string) AnnotationAssertion( "Cerebellar Herniation"^^xsd:string) AnnotationAssertion( "Cerebellar Herniations"^^xsd:string) AnnotationAssertion( "Cerebral Hernia"^^xsd:string) AnnotationAssertion( "Cerebral Hernias"^^xsd:string) AnnotationAssertion( "Cranial Meningoencephalocele"^^xsd:string) AnnotationAssertion( "Cranial Meningoencephaloceles"^^xsd:string) AnnotationAssertion( "Craniocele"^^xsd:string) AnnotationAssertion( "Cranioceles"^^xsd:string) AnnotationAssertion( "Cranium Bifidum"^^xsd:string) AnnotationAssertion( "Cranium Bifidums"^^xsd:string) AnnotationAssertion( "Encephaloceles"^^xsd:string) AnnotationAssertion( "Frontal Encephalocele"^^xsd:string) AnnotationAssertion( "Frontal Encephaloceles"^^xsd:string) AnnotationAssertion( "Notoencephalocele"^^xsd:string) AnnotationAssertion( "Notoencephaloceles"^^xsd:string) AnnotationAssertion( "Occipital Encephalocele"^^xsd:string) AnnotationAssertion( "Occipital Encephaloceles"^^xsd:string) AnnotationAssertion( "Sincipital Encephalocele"^^xsd:string) AnnotationAssertion( "Sincipital Encephaloceles"^^xsd:string) AnnotationAssertion( "Tonsillar Hernia"^^xsd:string) AnnotationAssertion( "Tonsillar Hernias"^^xsd:string) AnnotationAssertion( "Tonsillar Herniation"^^xsd:string) AnnotationAssertion( "Tonsillar Herniations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000983"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ventricular Flutter) AnnotationAssertion(Annotation( "MESH:D054141"^^xsd:string) "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. If untreated, ventricular flutter typically progresses to VENTRICULAR FIBRILLATION."^^xsd:string) AnnotationAssertion( "MESH:D054141"^^xsd:string) AnnotationAssertion( "Ventricular Flutters"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000984"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Flutter"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Selective Tooth Agenesis, X-Linked, 1) AnnotationAssertion( "MIM:313500"^^xsd:string) AnnotationAssertion( "RDO:0015238"^^xsd:string) AnnotationAssertion( "MESH:C567060"^^xsd:string) AnnotationAssertion( "Hypodontia-Oligodontia, X-Linked, 1"^^xsd:string) AnnotationAssertion( "STHAGX1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000986"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis, X-Linked, 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebroretinal Microangiopathy with Calcifications and Cysts 3) AnnotationAssertion(Annotation( "MIM:620368"^^xsd:string) "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Caused by homozygous mutation in the POT1 gene on chromosome 7q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-12T09:17:05Z"^^xsd:string) AnnotationAssertion( "MIM:620368"^^xsd:string) AnnotationAssertion( "CRMCC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000987"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebroretinal Microangiopathy with Calcifications and Cysts 3"^^xsd:string) SubClassOf( ) # Class: (Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2) AnnotationAssertion( "An autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Caused by homozygous or compound heterozygous mutation in the YARS1 gene on chromosome 1p35. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-09T10:59:29Z"^^xsd:string) AnnotationAssertion( "MIM:619418"^^xsd:string) AnnotationAssertion( "IMNEPD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000988"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pneumococcal Infections) AnnotationAssertion(Annotation( "MESH:D011008"^^xsd:string) "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE."^^xsd:string) AnnotationAssertion( "EFO:0000772"^^xsd:string) AnnotationAssertion( "MESH:D011008"^^xsd:string) AnnotationAssertion( "Pneumococcal Infection"^^xsd:string) AnnotationAssertion( "Streptococcus pneumoniae Infection"^^xsd:string) AnnotationAssertion( "Streptococcus pneumoniae Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000989"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumococcal Infections"^^xsd:string) SubClassOf( ) # Class: (Experimental Nervous System Autoimmune Disease) AnnotationAssertion(Annotation( "MESH:D020721"^^xsd:string) "Experimental animal models for human AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM. They include GUILLAIN-BARRE SYNDROME (see NEURITIS, AUTOIMMUNE, EXPERIMENTAL); MYASTHENIA GRAVIS (see MYASTHENIA GRAVIS, AUTOIMMUNE, EXPERIMENTAL); and MULTIPLE SCLEROSIS (see ENCEPHALOMYELITIS, AUTOIMMUNE, EXPERIMENTAL)."^^xsd:string) AnnotationAssertion( "MESH:D020721"^^xsd:string) AnnotationAssertion( "Autoimmune Experimental Myositis"^^xsd:string) AnnotationAssertion( "Nervous System Autoimmune Disease Models"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000990"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Nervous System Autoimmune Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SULEIMAN-EL-HATTAB SYNDROME) AnnotationAssertion(Annotation( "MIM:618950"^^xsd:string) "This is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-11-13T10:48:28Z"^^xsd:string) AnnotationAssertion( "MIM:618950"^^xsd:string) AnnotationAssertion( "SULEHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000991"^^xsd:string) AnnotationAssertion(rdfs:label "SULEIMAN-EL-HATTAB SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (necrotizing soft tissue infection) AnnotationAssertion(Annotation( "PMID:26880104"^^xsd:string) "A bacterial infection of any layer within the soft tissue compartments associated with necrosis. The condition is often accompanied by septic shock, and the extensive inflammatory response is thought to be a primary cause of mortality."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-18T17:29:45Z"^^xsd:string) AnnotationAssertion( "PMID:26880104"^^xsd:string) AnnotationAssertion( "NSTI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000992"^^xsd:string) AnnotationAssertion(rdfs:label "necrotizing soft tissue infection"^^xsd:string) SubClassOf( ) # Class: (Tetraamelia Multiple Malformations) AnnotationAssertion( "MESH:C536500"^^xsd:string) AnnotationAssertion( "Zimmer Taub Sova syndrome"^^xsd:string) AnnotationAssertion( "Zimmer phocomelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000993"^^xsd:string) AnnotationAssertion(rdfs:label "Tetraamelia Multiple Malformations"^^xsd:string) SubClassOf( ) # Class: (Choroid Neoplasms) AnnotationAssertion( "Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)."^^xsd:string) AnnotationAssertion( "MESH:D002830"^^xsd:string) AnnotationAssertion( "choroid neoplasm"^^xsd:string) AnnotationAssertion( "choroidal neoplasm"^^xsd:string) AnnotationAssertion( "choroidal neoplasms"^^xsd:string) AnnotationAssertion( "choroidal tumor"^^xsd:string) AnnotationAssertion( "neoplasm of choroid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000994"^^xsd:string) AnnotationAssertion(rdfs:label "Choroid Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Undritz Anomaly) AnnotationAssertion( "MIM:191500"^^xsd:string) AnnotationAssertion( "MESH:C566014"^^xsd:string) AnnotationAssertion( "Hypersegmentation of Nuclei of Polymorphonuclear Leukocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000995"^^xsd:string) AnnotationAssertion(rdfs:label "Undritz Anomaly"^^xsd:string) SubClassOf( ) # Class: (Chest Trauma) AnnotationAssertion( "An injury of the chest due to physical damage caused by an extrinsic agent."^^xsd:string) AnnotationAssertion( "Traumatic injury to chest"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Blunt injury to chest"^^xsd:string) AnnotationAssertion( "Blunt injury to thorax"^^xsd:string) AnnotationAssertion( "DOID:9000996"^^xsd:string) AnnotationAssertion(rdfs:label "Chest Trauma"^^xsd:string) SubClassOf( ) # Class: (Tsukahara Syndrome) AnnotationAssertion( "MIM:603438"^^xsd:string) AnnotationAssertion( "MESH:C566376"^^xsd:string) AnnotationAssertion( "Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000997"^^xsd:string) AnnotationAssertion(rdfs:label "Tsukahara Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brain Injuries) AnnotationAssertion(Annotation( "MESH:D001930"^^xsd:string) "Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits."^^xsd:string) AnnotationAssertion( "MESH:D001930"^^xsd:string) AnnotationAssertion( "Acute Brain Injuries"^^xsd:string) AnnotationAssertion( "Acute Brain Injury"^^xsd:string) AnnotationAssertion( "Brain Injury"^^xsd:string) AnnotationAssertion( "Brain Laceration"^^xsd:string) AnnotationAssertion( "Brain Lacerations"^^xsd:string) AnnotationAssertion( "Focal Brain Injuries"^^xsd:string) AnnotationAssertion( "Focal Brain Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000998"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2) AnnotationAssertion(Annotation( "MIM:616801"^^xsd:string) "A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy."^^xsd:string) AnnotationAssertion( "MIM:616801"^^xsd:string) AnnotationAssertion( "HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME"^^xsd:string) AnnotationAssertion( "IHPRF2"^^xsd:string) AnnotationAssertion( "UNC80-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UNC80-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9000999"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2"^^xsd:string) SubClassOf( ) # Class: (Panniculitis, Lupus Erythematosus) AnnotationAssertion(Annotation( "MESH:D015435"^^xsd:string) "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45."^^xsd:string) AnnotationAssertion( "MESH:D015435"^^xsd:string) AnnotationAssertion( "RDO:0006869"^^xsd:string) AnnotationAssertion( "Lupus Erythematosus Panniculitides"^^xsd:string) AnnotationAssertion( "Lupus Erythematosus Profundus"^^xsd:string) AnnotationAssertion( "Lupus Panniculitides"^^xsd:string) AnnotationAssertion( "Lupus Panniculitis"^^xsd:string) AnnotationAssertion( "Lupus Profundus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001000"^^xsd:string) AnnotationAssertion(rdfs:label "Panniculitis, Lupus Erythematosus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Davis Lafer Syndrome) AnnotationAssertion( "MESH:C535989"^^xsd:string) AnnotationAssertion( "Mental retardation unusual facies Davis Lafer type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001001"^^xsd:string) AnnotationAssertion(rdfs:label "Davis Lafer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES) AnnotationAssertion(Annotation( "MIM:618659"^^xsd:string) "A global neurodevelopmental disorder with highly variable features. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-14T16:17:48Z"^^xsd:string) AnnotationAssertion( "MIM:618659"^^xsd:string) AnnotationAssertion( "EFO:0010659"^^xsd:string) AnnotationAssertion( "NEDDFSA"^^xsd:string) AnnotationAssertion( "ZMIZ1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001002"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis, with Normal Red Cell Morphology) AnnotationAssertion( "MESH:C566911"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001003"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis, with Normal Red Cell Morphology"^^xsd:string) SubClassOf( ) # Class: (Chronic Periodontitis) AnnotationAssertion(Annotation( "MESH:D055113"^^xsd:string) "Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people."^^xsd:string) AnnotationAssertion( "MIM:260950"^^xsd:string) AnnotationAssertion( "EFO:0006343"^^xsd:string) AnnotationAssertion( "MESH:D055113"^^xsd:string) AnnotationAssertion( "adult periodontitides"^^xsd:string) AnnotationAssertion( "adult periodontitis"^^xsd:string) AnnotationAssertion( "chronic periodontitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001004"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Periodontitis"^^xsd:string) SubClassOf( ) # Class: (Complex Cortical Dysplasia with Other Brain Malformations 9) AnnotationAssertion(Annotation( "MIM:618174"^^xsd:string) "A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T17:59:21Z"^^xsd:string) AnnotationAssertion( "MIM:618174"^^xsd:string) AnnotationAssertion( "CDCBM9"^^xsd:string) AnnotationAssertion( "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001005"^^xsd:string) AnnotationAssertion(rdfs:label "Complex Cortical Dysplasia with Other Brain Malformations 9"^^xsd:string) SubClassOf( ) # Class: (Necrotizing Pneumonia) AnnotationAssertion(Annotation( "MESH:D000071067"^^xsd:string) "Severe complication of pneumonia characterized by liquefaction of lung tissue."^^xsd:string) AnnotationAssertion( "MESH:D000071067"^^xsd:string) AnnotationAssertion( "Necrotizing Pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001006"^^xsd:string) AnnotationAssertion(rdfs:label "Necrotizing Pneumonia"^^xsd:string) SubClassOf( ) # Class: (X-Linked Macular Dystrophy) AnnotationAssertion( "MIM:309100"^^xsd:string) AnnotationAssertion( "MESH:C564110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001007"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Macular Dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diverticulum) AnnotationAssertion(Annotation( "MESH:D004240"^^xsd:string) "A pouch or sac developed from a tubular or saccular organ, such as the GASTROINTESTINAL TRACT."^^xsd:string) AnnotationAssertion( "MESH:D004240"^^xsd:string) AnnotationAssertion( "Diverticula"^^xsd:string) AnnotationAssertion( "Diverticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001008"^^xsd:string) AnnotationAssertion(rdfs:label "Diverticulum"^^xsd:string) SubClassOf( ) # Class: (Adult Pancreatic Cancer) AnnotationAssertion( "MESH:C535836"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001009"^^xsd:string) AnnotationAssertion(rdfs:label "Adult Pancreatic Cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eye adnexa disease) AnnotationAssertion(Annotation( "https://www.mrverity.com/adnexal-disorders/what-is-adnexal-disease/"^^xsd:string) "This encompasses disorders of the eyelids, tear drainage and orbital tissues."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-25T16:14:33Z"^^xsd:string) AnnotationAssertion( "EFO:0009546"^^xsd:string) AnnotationAssertion( "disorder of ocular adnexa"^^xsd:string) AnnotationAssertion( "eye adnexa disorder"^^xsd:string) AnnotationAssertion( "ocular adnexa disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001010"^^xsd:string) AnnotationAssertion(rdfs:label "eye adnexa disease"^^xsd:string) SubClassOf( ) # Class: (Bovine Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014380"^^xsd:string) "An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals."^^xsd:string) AnnotationAssertion( "EFO:1001441"^^xsd:string) AnnotationAssertion( "MESH:D014380"^^xsd:string) AnnotationAssertion( "Bovine Tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001011"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Therapy-Related Myeloid Neoplasm) AnnotationAssertion(Annotation( "NCI:C27912"^^xsd:string) "This term covers acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-29T15:21:42Z"^^xsd:string) AnnotationAssertion( "EFO:1000575"^^xsd:string) AnnotationAssertion( "NCI:C27912"^^xsd:string) AnnotationAssertion( "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related"^^xsd:string) AnnotationAssertion( "therapy-related AML and MDS"^^xsd:string) AnnotationAssertion( "therapy-related acute myeloid leukemia and myelodysplastic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001012"^^xsd:string) AnnotationAssertion(rdfs:label "Therapy-Related Myeloid Neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diurnal Enuresis) AnnotationAssertion(Annotation( "MESH:D053207"^^xsd:string) "Involuntary discharge of URINE during the daytime while one is awake."^^xsd:string) AnnotationAssertion( "MESH:D053207"^^xsd:string) AnnotationAssertion( "RDO:0007613"^^xsd:string) AnnotationAssertion( "Daytime Urinary Incontinence"^^xsd:string) AnnotationAssertion( "Daytime Wetting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001013"^^xsd:string) AnnotationAssertion(rdfs:label "Diurnal Enuresis"^^xsd:string) SubClassOf( ) # Class: (Midline Granulomatosis) AnnotationAssertion( "MESH:C538667"^^xsd:string) AnnotationAssertion( "RDO:0004586"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001014"^^xsd:string) AnnotationAssertion(rdfs:label "Midline Granulomatosis"^^xsd:string) SubClassOf( ) # Class: (Intestinal Fistula) AnnotationAssertion(Annotation( "MESH:D007412"^^xsd:string) "An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS)."^^xsd:string) AnnotationAssertion( "MESH:D007412"^^xsd:string) AnnotationAssertion( "Cholecystoduodenal Fistula"^^xsd:string) AnnotationAssertion( "Colovesical Fistula"^^xsd:string) AnnotationAssertion( "Enterocutaneous Fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001015"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acquired Ichthyosis) AnnotationAssertion( "MESH:C538175"^^xsd:string) AnnotationAssertion( "Fish scale disease, acquired"^^xsd:string) AnnotationAssertion( "Ichthyosis acquisita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001016"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Ichthyosis"^^xsd:string) SubClassOf( ) # Class: (Pemphigus and Fogo Selvagem) AnnotationAssertion( "MESH:C535551"^^xsd:string) AnnotationAssertion( "RDO:0000733"^^xsd:string) AnnotationAssertion( "Brazilian pemphigus"^^xsd:string) AnnotationAssertion( "Brazilian pemphigus foliaceus"^^xsd:string) AnnotationAssertion( "Endemic pemphigus foliaceus"^^xsd:string) AnnotationAssertion( "South American pemphigus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001017"^^xsd:string) AnnotationAssertion(rdfs:label "Pemphigus and Fogo Selvagem"^^xsd:string) SubClassOf( ) # Class: (Mouth Abnormalities) AnnotationAssertion(Annotation( "MESH:D009056"^^xsd:string) "Congenital absence of or defects in structures of the mouth."^^xsd:string) AnnotationAssertion( "MESH:D009056"^^xsd:string) AnnotationAssertion( "Mouth Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001018"^^xsd:string) AnnotationAssertion(rdfs:label "Mouth Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Typhlitis) AnnotationAssertion(Annotation( "MESH:D053706"^^xsd:string) "Necrotizing inflammation of the CECUM ('typhlon' in Greek), sometimes spreading to the APPENDIX and/or the ILEUM. Symptoms include ABDOMINAL PAIN and DIARRHEA. Its pathogenesis is multifactorial. Typhlitis is often associated with NEUTROPENIA and chemotherapy in immunocompromised individuals (IMMUNOCOMPROMISED HOST)."^^xsd:string) AnnotationAssertion( "MESH:D053706"^^xsd:string) AnnotationAssertion( "Cecitis"^^xsd:string) AnnotationAssertion( "Neutropenic Typhlitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001019"^^xsd:string) AnnotationAssertion(rdfs:label "Typhlitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eye Manifestations) AnnotationAssertion(Annotation( "MESH:D005132"^^xsd:string) "Ocular disorders attendant upon non-ocular disease or injury."^^xsd:string) AnnotationAssertion( "MESH:D005132"^^xsd:string) AnnotationAssertion( "Eye Manifestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001020"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Manifestations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Disorder of Glycosylation with Defective Fucosylation) AnnotationAssertion( "An autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T13:49:39Z"^^xsd:string) AnnotationAssertion( "MIM:PS618005"^^xsd:string) AnnotationAssertion( "CDGF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001022"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation with Defective Fucosylation"^^xsd:string) SubClassOf( ) # Class: (Absence of Septum Pellucidum) AnnotationAssertion( "MESH:C535562"^^xsd:string) AnnotationAssertion( "RDO:0000757"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001023"^^xsd:string) AnnotationAssertion(rdfs:label "Absence of Septum Pellucidum"^^xsd:string) SubClassOf( ) # Class: (Calabro Syndrome) AnnotationAssertion( "MESH:C537960"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001024"^^xsd:string) AnnotationAssertion(rdfs:label "Calabro Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency) AnnotationAssertion( "MIM:165150"^^xsd:string) AnnotationAssertion( "MESH:C563498"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001025"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Surfactant Metabolism Dysfunction 1) AnnotationAssertion( "MIM:265120"^^xsd:string) AnnotationAssertion( "MESH:C566882"^^xsd:string) AnnotationAssertion( "NCI:C99068"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease Due To Surfactant Protein B Deficiency"^^xsd:string) AnnotationAssertion( "SMDP1"^^xsd:string) AnnotationAssertion( "congenital pulmonary alveolar proteinosis 1"^^xsd:string) AnnotationAssertion( "nonspecific interstitial lung disease due to surfactant protein B deficiency"^^xsd:string) AnnotationAssertion( "RAB5B-ASSOCIATED SURFACTANT DYSFUNCTION DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001026"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Surfactant Metabolism Dysfunction 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tropical Calcific Pancreatitis) AnnotationAssertion( "MIM:608189"^^xsd:string) AnnotationAssertion( "MESH:C564276"^^xsd:string) AnnotationAssertion( "RDO:0013298"^^xsd:string) AnnotationAssertion( "TCP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001027"^^xsd:string) AnnotationAssertion(rdfs:label "Tropical Calcific Pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Scalp Defects, Postaxial Polydactyly) AnnotationAssertion( "MIM:181250"^^xsd:string) AnnotationAssertion( "MESH:C536622"^^xsd:string) AnnotationAssertion( "congenital scalp defects associated with postaxial polydactyly"^^xsd:string) AnnotationAssertion( "scalp defects and postaxial polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001028"^^xsd:string) AnnotationAssertion(rdfs:label "Scalp Defects, Postaxial Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Essential Athrombia) AnnotationAssertion( "MIM:209050"^^xsd:string) AnnotationAssertion( "MESH:C565927"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001029"^^xsd:string) AnnotationAssertion(rdfs:label "Essential Athrombia"^^xsd:string) SubClassOf( ) # Class: (Multiple Primary Neoplasms) AnnotationAssertion(Annotation( "MESH:D009378"^^xsd:string) "Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites."^^xsd:string) AnnotationAssertion( "RDO:0005711"^^xsd:string) AnnotationAssertion( "MESH:D009378"^^xsd:string) AnnotationAssertion( "Synchronous Multiple Primary Neoplasms"^^xsd:string) AnnotationAssertion( "Synchronous Neoplasm"^^xsd:string) AnnotationAssertion( "multiple primary neoplasm"^^xsd:string) AnnotationAssertion( "synchronous neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001030"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Primary Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Retrognathia) AnnotationAssertion(Annotation( "MESH:D063173"^^xsd:string) "A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead."^^xsd:string) AnnotationAssertion( "MESH:D063173"^^xsd:string) AnnotationAssertion( "Mandibular Retroposition"^^xsd:string) AnnotationAssertion( "Mandibular Retropositions"^^xsd:string) AnnotationAssertion( "Mandibular Retrusion"^^xsd:string) AnnotationAssertion( "Mandibular Retrusions"^^xsd:string) AnnotationAssertion( "Maxillary Retroposition"^^xsd:string) AnnotationAssertion( "Maxillary Retropositions"^^xsd:string) AnnotationAssertion( "Maxillary Retrusion"^^xsd:string) AnnotationAssertion( "Maxillary Retrusions"^^xsd:string) AnnotationAssertion( "Retrognathias"^^xsd:string) AnnotationAssertion( "Retrognathism"^^xsd:string) AnnotationAssertion( "Retrognathisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001031"^^xsd:string) AnnotationAssertion(rdfs:label "Retrognathia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Friedreich Ataxia Congenital Glaucoma) AnnotationAssertion( "MIM:229310"^^xsd:string) AnnotationAssertion( "MESH:C538061"^^xsd:string) AnnotationAssertion( "Congenital glaucoma and Friedreich ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001033"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich Ataxia Congenital Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Odontodysplasia) AnnotationAssertion(Annotation( "MESH:D018126"^^xsd:string) "A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)"^^xsd:string) AnnotationAssertion( "MESH:D018126"^^xsd:string) AnnotationAssertion( "Ghost Teeth"^^xsd:string) AnnotationAssertion( "Ghost Tooth"^^xsd:string) AnnotationAssertion( "Odontogenesis Imperfecta"^^xsd:string) AnnotationAssertion( "Odontogenic Dysplasia"^^xsd:string) AnnotationAssertion( "odontodysplasias"^^xsd:string) AnnotationAssertion( "odontogenic dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001034"^^xsd:string) AnnotationAssertion(rdfs:label "Odontodysplasia"^^xsd:string) SubClassOf( ) # Class: (Hypercalciuria, Childhood Idiopathic) AnnotationAssertion( "MESH:C536082"^^xsd:string) AnnotationAssertion( "RDO:0001508"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001035"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalciuria, Childhood Idiopathic"^^xsd:string) SubClassOf( ) # Class: (Penetrating Head Injuries) AnnotationAssertion(Annotation( "MESH:D020197"^^xsd:string) "Head injuries which feature compromise of the skull and dura mater. These may result from gunshot wounds (WOUNDS, GUNSHOT), stab wounds (WOUNDS, STAB), and other forms of trauma."^^xsd:string) AnnotationAssertion( "MESH:D020197"^^xsd:string) AnnotationAssertion( "Penetrating Brain Injuries"^^xsd:string) AnnotationAssertion( "Penetrating Brain Injury"^^xsd:string) AnnotationAssertion( "Penetrating Cranial Trauma"^^xsd:string) AnnotationAssertion( "Penetrating Cranial Traumas"^^xsd:string) AnnotationAssertion( "Penetrating Craniocerebral Trauma"^^xsd:string) AnnotationAssertion( "Penetrating Craniocerebral Traumas"^^xsd:string) AnnotationAssertion( "Penetrating Head Injury"^^xsd:string) AnnotationAssertion( "Penetrating Head Trauma"^^xsd:string) AnnotationAssertion( "Penetrating Head Traumas"^^xsd:string) AnnotationAssertion( "Penetrating Missile Injuries, Head"^^xsd:string) AnnotationAssertion( "cortical stab injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001036"^^xsd:string) AnnotationAssertion(rdfs:label "Penetrating Head Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (GSD IV, Neuromuscular Form, Congenital) AnnotationAssertion( "MESH:C565542"^^xsd:string) AnnotationAssertion( "RDO:0014150"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001038"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Neuromuscular Form, Congenital"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukocytosis) AnnotationAssertion(Annotation( "MESH:D007964"^^xsd:string) "A transient increase in the number of leukocytes in a body fluid."^^xsd:string) AnnotationAssertion( "MESH:D007964"^^xsd:string) AnnotationAssertion( "Leukocytoses"^^xsd:string) AnnotationAssertion( "Pleocytoses"^^xsd:string) AnnotationAssertion( "Pleocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001039"^^xsd:string) AnnotationAssertion(rdfs:label "Leukocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sinus Node Disease and Myopia) AnnotationAssertion( "MIM:182190"^^xsd:string) AnnotationAssertion( "MESH:C566690"^^xsd:string) AnnotationAssertion( "SSS-Myopia Syndrome"^^xsd:string) AnnotationAssertion( "Sick Sinus Syndrome and Myopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001040"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Node Disease and Myopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Asphyxia) AnnotationAssertion(Annotation( "MESH:D001237"^^xsd:string) "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life."^^xsd:string) AnnotationAssertion( "EFO:0009446"^^xsd:string) AnnotationAssertion( "MESH:D001237"^^xsd:string) AnnotationAssertion( "Asphyxias"^^xsd:string) AnnotationAssertion( "Suffocation"^^xsd:string) AnnotationAssertion( "Suffocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001041"^^xsd:string) AnnotationAssertion(rdfs:label "Asphyxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Seizures and Brain Abnormalities) AnnotationAssertion(Annotation( "MIM:619517"^^xsd:string) "An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Caused by homozygous mutation in the CLCN3 gene on chromosome 4q33."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-21T16:11:15Z"^^xsd:string) AnnotationAssertion( "MIM:619517"^^xsd:string) AnnotationAssertion( "NEDSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001042"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Seizures and Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Medically Unexplained Symptoms) AnnotationAssertion(Annotation( "MESH:D000071896"^^xsd:string) "Persistent health symptoms which remain unexplained after a complete medical evaluation. A cluster of symptoms that consistently appear together but without a known cause are referred to as a MEDICALLY UNEXPLAINED SYNDROME (MUS)."^^xsd:string) AnnotationAssertion( "MESH:D000071896"^^xsd:string) AnnotationAssertion( "RDO:0016110"^^xsd:string) AnnotationAssertion( "Medically Unexplained Symptom"^^xsd:string) AnnotationAssertion( "Somatic Symptom"^^xsd:string) AnnotationAssertion( "Somatic Symptoms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001043"^^xsd:string) AnnotationAssertion(rdfs:label "Medically Unexplained Symptoms"^^xsd:string) SubClassOf( ) # Class: (Choroidal Neovascularization) AnnotationAssertion(Annotation( "MESH:D020256"^^xsd:string) "A pathological process consisting of the formation of new blood vessels in the CHOROID."^^xsd:string) AnnotationAssertion( "MESH:D020256"^^xsd:string) AnnotationAssertion( "RDO:0007376"^^xsd:string) AnnotationAssertion( "Choroid Neovascularization"^^xsd:string) AnnotationAssertion( "Choroid Neovascularizations"^^xsd:string) AnnotationAssertion( "Choroidal Neovascularizations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001044"^^xsd:string) AnnotationAssertion(rdfs:label "Choroidal Neovascularization"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Monosomy 3p2) AnnotationAssertion( "MESH:C536806"^^xsd:string) AnnotationAssertion( "RDO:0002498"^^xsd:string) AnnotationAssertion( "Chromosome 3 distal deletion"^^xsd:string) AnnotationAssertion( "Chromosome 3, deletion of distal 3p"^^xsd:string) AnnotationAssertion( "Chromosome 3, distal 3p monosomy"^^xsd:string) AnnotationAssertion( "Monosomy 3p2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001045"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3p2"^^xsd:string) SubClassOf( ) # Class: (Desbuquois Dysplasia 2) AnnotationAssertion( "Desbuquois dysplasia-2 (DBQD2) is caused by homozygous or compound heterozygous mutation in the XYLT1 gene on chromosome 16p12."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615777"^^xsd:string) AnnotationAssertion( "Baratela-Scott syndrome"^^xsd:string) AnnotationAssertion( "DBQD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001046"^^xsd:string) AnnotationAssertion(rdfs:label "Desbuquois Dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Slipped Capital Femoral Epiphyses) AnnotationAssertion(Annotation( "MESH:D060048"^^xsd:string) "A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."^^xsd:string) AnnotationAssertion( "MIM:182260"^^xsd:string) AnnotationAssertion( "MESH:D060048"^^xsd:string) AnnotationAssertion( "Adolescent Coxa Vara"^^xsd:string) AnnotationAssertion( "Bilateral Slipped Capital Femoral Epiphyses"^^xsd:string) AnnotationAssertion( "Bilateral Slipped Capital Femoral Epiphysis"^^xsd:string) AnnotationAssertion( "Epiphysiolysis Capitis Femoris"^^xsd:string) AnnotationAssertion( "Slipped Capital Femoral Epiphysis"^^xsd:string) AnnotationAssertion( "Unilateral Slipped Capital Femoral Epiphyses"^^xsd:string) AnnotationAssertion( "adolescent coxa varas"^^xsd:string) AnnotationAssertion( "unilateral slipped capital femoral epiphysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001047"^^xsd:string) AnnotationAssertion(rdfs:label "Slipped Capital Femoral Epiphyses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nociceptive Pain) AnnotationAssertion(Annotation( "MESH:D059226"^^xsd:string) "Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN."^^xsd:string) AnnotationAssertion( "MESH:D059226"^^xsd:string) AnnotationAssertion( "Nociceptive Pains"^^xsd:string) AnnotationAssertion( "Somatic Pain"^^xsd:string) AnnotationAssertion( "Somatic Pains"^^xsd:string) AnnotationAssertion( "Tissue Pain"^^xsd:string) AnnotationAssertion( "Tissue Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001048"^^xsd:string) AnnotationAssertion(rdfs:label "Nociceptive Pain"^^xsd:string) SubClassOf( ) # Class: (Staphylococcal Pneumonia) AnnotationAssertion(Annotation( "MESH:D011023"^^xsd:string) "Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS."^^xsd:string) AnnotationAssertion( "EFO:0007496"^^xsd:string) AnnotationAssertion( "EFO:0008556"^^xsd:string) AnnotationAssertion( "MESH:D011023"^^xsd:string) AnnotationAssertion( "Staphylococcal Pneumonias"^^xsd:string) AnnotationAssertion( "Staphylococcus Aureus Pneumonia"^^xsd:string) AnnotationAssertion( "Staphylococcus Aureus Pneumonias"^^xsd:string) AnnotationAssertion( "Methicillin-Resistant Staphylococcus Aureus Pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001049"^^xsd:string) AnnotationAssertion(rdfs:label "Staphylococcal Pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Short QT Syndrome 2) AnnotationAssertion( "MIM:609621"^^xsd:string) AnnotationAssertion( "MESH:C566505"^^xsd:string) AnnotationAssertion( "KCNQ1-related short QT syndrome"^^xsd:string) AnnotationAssertion( "SHORT QT SYNDROME TYPE 2"^^xsd:string) AnnotationAssertion( "SQT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001050"^^xsd:string) AnnotationAssertion(rdfs:label "Short QT Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Seroma) AnnotationAssertion(Annotation( "MESH:D049291"^^xsd:string) "Tumor-like sterile accumulation of serum in a tissue, organ, or cavity. It results from a tissue insult and is the product of tissue inflammation. It most commonly occurs following MASTECTOMY."^^xsd:string) AnnotationAssertion( "MESH:D049291"^^xsd:string) AnnotationAssertion( "Seromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001051"^^xsd:string) AnnotationAssertion(rdfs:label "Seroma"^^xsd:string) SubClassOf( ) # Class: (Spondylospinal Thoracic Dysostosis) AnnotationAssertion( "MIM:601809"^^xsd:string) AnnotationAssertion( "MESH:C566622"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001052"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylospinal Thoracic Dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Injuries) AnnotationAssertion(Annotation( "MESH:D005151"^^xsd:string) "General or unspecified injuries to the soft tissue or bony portions of the face."^^xsd:string) AnnotationAssertion( "MESH:D005151"^^xsd:string) AnnotationAssertion( "RDO:0005558"^^xsd:string) AnnotationAssertion( "Facial Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001053"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Injuries"^^xsd:string) SubClassOf( ) # Class: (Chromosome 2, Monosomy 2q24) AnnotationAssertion( "MESH:C538316"^^xsd:string) AnnotationAssertion( "RDO:0004278"^^xsd:string) AnnotationAssertion( "Deletion 2q24"^^xsd:string) AnnotationAssertion( "Monosomy 2q24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001054"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Monosomy 2q24"^^xsd:string) SubClassOf( ) # Class: (Oculoauriculofrontonasal Syndrome) AnnotationAssertion( "MIM:601452"^^xsd:string) AnnotationAssertion( "MESH:C537865"^^xsd:string) AnnotationAssertion( "oculoauriculofrontonasal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001055"^^xsd:string) AnnotationAssertion(rdfs:label "Oculoauriculofrontonasal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Holoprosencephaly 14) AnnotationAssertion(Annotation( "MIM:619895"^^xsd:string) "An autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum. Caused by homozygous mutation in PLCH1 gene on chromosome 3q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-31T08:12:18Z"^^xsd:string) AnnotationAssertion( "MIM:619895"^^xsd:string) AnnotationAssertion( "HPE14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001056"^^xsd:string) AnnotationAssertion(rdfs:label "Holoprosencephaly 14"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related) AnnotationAssertion( "MESH:C567370"^^xsd:string) AnnotationAssertion( "RDO:0015458"^^xsd:string) AnnotationAssertion( "Arcii"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001057"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related"^^xsd:string) SubClassOf( ) # Class: (Solar Urticaria) AnnotationAssertion( "Chromophore-dependent photodermatosis triggered by UV and visible light."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:12:55Z"^^xsd:string) AnnotationAssertion( "MESH:D000092130"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001058"^^xsd:string) AnnotationAssertion(rdfs:label "Solar Urticaria"^^xsd:string) SubClassOf( ) # Class: (Inhibition of Lymphoblastic Transformation) AnnotationAssertion( "MIM:247430"^^xsd:string) AnnotationAssertion( "MESH:C565433"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001059"^^xsd:string) AnnotationAssertion(rdfs:label "Inhibition of Lymphoblastic Transformation"^^xsd:string) SubClassOf( ) # Class: (JOUBERT SYNDROME 35) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-12-06T15:50:34Z"^^xsd:string) AnnotationAssertion( "MIM:618161"^^xsd:string) AnnotationAssertion( "JBTS35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001060"^^xsd:string) AnnotationAssertion(rdfs:label "JOUBERT SYNDROME 35"^^xsd:string) SubClassOf( ) # Class: (Atypical Krabbe Disease due to Saposin A Deficiency) AnnotationAssertion( "MIM:611722"^^xsd:string) AnnotationAssertion( "MESH:C567097"^^xsd:string) AnnotationAssertion( "KRBSAPA"^^xsd:string) AnnotationAssertion( "Saposin A Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001061"^^xsd:string) AnnotationAssertion(rdfs:label "Atypical Krabbe Disease due to Saposin A Deficiency"^^xsd:string) SubClassOf( ) # Class: (Normal Tension Glaucoma) AnnotationAssertion( "RDO:0009042"^^xsd:string) AnnotationAssertion( "MIM:606657"^^xsd:string) AnnotationAssertion( "NPG"^^xsd:string) AnnotationAssertion( "NTG"^^xsd:string) AnnotationAssertion( "Normal Tension Glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Normal Pressure Glaucoma, Susceptibility To"^^xsd:string) AnnotationAssertion( "Normal Tension Glaucoma, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9001062"^^xsd:string) AnnotationAssertion(rdfs:label "Normal Tension Glaucoma"^^xsd:string) SubClassOf( ) # Class: (Viral Skin Diseases) AnnotationAssertion(Annotation( "MESH:D017193"^^xsd:string) "Skin diseases caused by viruses."^^xsd:string) AnnotationAssertion( "MESH:D017193"^^xsd:string) AnnotationAssertion( "RDO:0005546"^^xsd:string) AnnotationAssertion( "Viral Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001063"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Skin Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hao-Fountain Syndrome) AnnotationAssertion( "This disease is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-16T12:25:58Z"^^xsd:string) AnnotationAssertion( "MIM:616863"^^xsd:string) AnnotationAssertion( "HAFOUS"^^xsd:string) AnnotationAssertion( "HAO-FOUNTAIN SYNDROME DUE TO USP7 MUTATION"^^xsd:string) AnnotationAssertion( "USP7-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chromosome 16p13.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "DOID:9001064"^^xsd:string) AnnotationAssertion(rdfs:label "Hao-Fountain Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noncirrhotic Portal Hypertension 1) AnnotationAssertion( "An autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Caused by homozygous mutation in the DGUOK gene on chromosome 2p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T16:09:45Z"^^xsd:string) AnnotationAssertion( "MIM:617068"^^xsd:string) AnnotationAssertion( "NCPH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001065"^^xsd:string) AnnotationAssertion(rdfs:label "Noncirrhotic Portal Hypertension 1"^^xsd:string) SubClassOf( ) # Class: (Laryngocele) AnnotationAssertion(Annotation( "MESH:D059608"^^xsd:string) "Congenital anomalous dilitation of the laryngeal saccule that may extend internally into the airway or externally through the thyrohyoid membrane."^^xsd:string) AnnotationAssertion( "MESH:D059608"^^xsd:string) AnnotationAssertion( "Laryngoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001066"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Macrocytosis) AnnotationAssertion( "MIM:600084"^^xsd:string) AnnotationAssertion( "RDO:0013107"^^xsd:string) AnnotationAssertion( "MESH:C564004"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001067"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Macrocytosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bardet-Biedl Syndrome 6/10, Digenic) AnnotationAssertion( "RDO:9001091"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001069"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl Syndrome 6/10, Digenic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schofer Beetz Bohl Syndrome) AnnotationAssertion( "MESH:C535949"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001070"^^xsd:string) AnnotationAssertion(rdfs:label "Schofer Beetz Bohl Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abducens Nerve Injury) AnnotationAssertion(Annotation( "MESH:D020222"^^xsd:string) "Traumatic injury to the abducens, or sixth, cranial nerve. Injury to this nerve results in lateral rectus muscle weakness or paralysis. The nerve may be damaged by closed or penetrating CRANIOCEREBRAL TRAUMA or by facial trauma involving the orbit."^^xsd:string) AnnotationAssertion( "RDO:0007359"^^xsd:string) AnnotationAssertion( "MESH:D020222"^^xsd:string) AnnotationAssertion( "Abducens Nerve Injuries"^^xsd:string) AnnotationAssertion( "Abducens Nerve Trauma"^^xsd:string) AnnotationAssertion( "Abducens Nerve Traumas"^^xsd:string) AnnotationAssertion( "Cranial Nerve VI Injury"^^xsd:string) AnnotationAssertion( "Sixth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Sixth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Sixth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Sixth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Abducens Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Abducens Neuropathy"^^xsd:string) AnnotationAssertion( "Traumatic Sixth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Sixth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001072"^^xsd:string) AnnotationAssertion(rdfs:label "Abducens Nerve Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Precocious Graying of Hair) AnnotationAssertion( "MIM:139100"^^xsd:string) AnnotationAssertion( "MESH:C564209"^^xsd:string) AnnotationAssertion( "premature white hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001073"^^xsd:string) AnnotationAssertion(rdfs:label "Precocious Graying of Hair"^^xsd:string) SubClassOf( ) # Class: (Posterior Leukoencephalopathy Syndrome) AnnotationAssertion(Annotation( "MESH:D054038"^^xsd:string) "A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)."^^xsd:string) AnnotationAssertion( "EFO:1001829"^^xsd:string) AnnotationAssertion( "MESH:D054038"^^xsd:string) AnnotationAssertion( "Posterior leukoencephalopathy syndromes"^^xsd:string) AnnotationAssertion( "Posterior reversible encephalopathy syndrome"^^xsd:string) AnnotationAssertion( "Posterior reversible leukoencephalopathy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001074"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Leukoencephalopathy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebelloparenchymal Disorder VI) AnnotationAssertion( "MESH:C563564"^^xsd:string) AnnotationAssertion( "RDO:0012789"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001075"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebelloparenchymal Disorder VI"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Injuries) AnnotationAssertion(Annotation( "MESH:D013124"^^xsd:string) "Injuries involving the vertebral column."^^xsd:string) AnnotationAssertion( "MESH:D013124"^^xsd:string) AnnotationAssertion( "Spinal Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001077"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Injuries"^^xsd:string) SubClassOf( ) # Class: (Fibrocartilaginous Embolism) AnnotationAssertion( "MESH:C537927"^^xsd:string) AnnotationAssertion( "Nucleus pulposus embolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001078"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrocartilaginous Embolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rinderpest) AnnotationAssertion(Annotation( "MESH:D012301"^^xsd:string) "A viral disease of cloven-hoofed animals caused by MORBILLIVIRUS. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010."^^xsd:string) AnnotationAssertion( "MESH:D012301"^^xsd:string) AnnotationAssertion( "Cattle Plague"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001079"^^xsd:string) AnnotationAssertion(rdfs:label "Rinderpest"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Robinow Sorauf Syndrome) AnnotationAssertion( "MIM:180750"^^xsd:string) AnnotationAssertion( "MESH:C537183"^^xsd:string) AnnotationAssertion( "acrocephalosyndactyly, Robinow-Sorauf type"^^xsd:string) AnnotationAssertion( "craniosynostosis-bifid hallux syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001080"^^xsd:string) AnnotationAssertion(rdfs:label "Robinow Sorauf Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Erythema Chronicum Migrans) AnnotationAssertion(Annotation( "MESH:D015787"^^xsd:string) "A deep type of gyrate erythema that follows a bite by an ixodid tick; it is a stage-1 manifestation of LYME DISEASE. The site of the bite is characterized by a red papule that expands peripherally as a nonscaling, palpable band that clears centrally. This condition is often associated with systemic symptoms such as chills, fever, headache, malaise, nausea, vomiting, fatigue, backache, and stiff neck."^^xsd:string) AnnotationAssertion( "MESH:D015787"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001081"^^xsd:string) AnnotationAssertion(rdfs:label "Erythema Chronicum Migrans"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ectodermal Dysplasia with Natal Teeth, Turnpenny Type) AnnotationAssertion( "MIM:601345"^^xsd:string) AnnotationAssertion( "MESH:C563347"^^xsd:string) AnnotationAssertion( "ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001082"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia with Natal Teeth, Turnpenny Type"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Woolly Hair) AnnotationAssertion( "MESH:C564735"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "autosomal recessive woolly hair 1, with or without hypotrichosis"^^xsd:string) AnnotationAssertion( "DOID:9001083"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Woolly Hair"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Supranuclear Palsy 2) AnnotationAssertion( "MIM:609454"^^xsd:string) AnnotationAssertion( "MESH:C563717"^^xsd:string) AnnotationAssertion( "PSNP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001084"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Supranuclear Palsy 2"^^xsd:string) SubClassOf( ) # Class: (wrist fractures) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-20T12:33:53Z"^^xsd:string) AnnotationAssertion( "EFO:0009515"^^xsd:string) AnnotationAssertion( "carpal fractures"^^xsd:string) AnnotationAssertion( "wrist fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001085"^^xsd:string) AnnotationAssertion(rdfs:label "wrist fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Ataxia and Neurosensory Deafness) AnnotationAssertion( "MIM:212850"^^xsd:string) AnnotationAssertion( "MESH:C565869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001086"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia and Neurosensory Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Opsoclonus-Myoclonus Syndrome) AnnotationAssertion(Annotation( "MESH:D053578"^^xsd:string) "A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system."^^xsd:string) AnnotationAssertion( "EFO:1001383"^^xsd:string) AnnotationAssertion( "MESH:D053578"^^xsd:string) AnnotationAssertion( "RDO:0000685"^^xsd:string) AnnotationAssertion( "Dancing Eyes Dancing Feet Syndrome"^^xsd:string) AnnotationAssertion( "Infants Myoclonic Encephalopathies"^^xsd:string) AnnotationAssertion( "Infants Myoclonic Encephalopathy"^^xsd:string) AnnotationAssertion( "Kinsbourne Syndrome"^^xsd:string) AnnotationAssertion( "Myoclonic Encephalopathy of Infants"^^xsd:string) AnnotationAssertion( "Opsoclonus Myoclonus"^^xsd:string) AnnotationAssertion( "Opsoclonus Myoclonus Ataxia"^^xsd:string) AnnotationAssertion( "Paraneoplastic Opsoclonus Myoclonus Ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001087"^^xsd:string) AnnotationAssertion(rdfs:label "Opsoclonus-Myoclonus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Aggrecan Type) AnnotationAssertion( "MIM:612813"^^xsd:string) AnnotationAssertion( "MESH:C567558"^^xsd:string) AnnotationAssertion( "RDO:0015607"^^xsd:string) AnnotationAssertion( "SEMD, Aggrecan Type"^^xsd:string) AnnotationAssertion( "SEMDAG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001088"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Aggrecan Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Ataxia and Hypergonadotropic Hypogonadism) AnnotationAssertion( "MIM:605672"^^xsd:string) AnnotationAssertion( "MESH:C565308"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001089"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia and Hypergonadotropic Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Question Mark Ears, Isolated) AnnotationAssertion( "MIM:612798"^^xsd:string) AnnotationAssertion( "AURICULAR CLEFT, CONGENITAL"^^xsd:string) AnnotationAssertion( "COSMAN DEFORMITY OF THE AURICLE"^^xsd:string) AnnotationAssertion( "EARS, PROMINENT AND CONSTRICTED"^^xsd:string) AnnotationAssertion( "QME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001090"^^xsd:string) AnnotationAssertion(rdfs:label "Question Mark Ears, Isolated"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:618653"^^xsd:string) "An autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-09T18:27:09Z"^^xsd:string) AnnotationAssertion( "MIM:618653"^^xsd:string) AnnotationAssertion( "EFO:0010651"^^xsd:string) AnnotationAssertion( "IDDILF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001091"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities) AnnotationAssertion( "MIM:617425"^^xsd:string) AnnotationAssertion( "ISDNA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001094"^^xsd:string) AnnotationAssertion(rdfs:label "Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Koone Rizzo Elias Syndrome) AnnotationAssertion( "MESH:C537023"^^xsd:string) AnnotationAssertion( "RDO:0002775"^^xsd:string) AnnotationAssertion( "Ichthyosis, mental retardation and asymptomatic spasticity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001095"^^xsd:string) AnnotationAssertion(rdfs:label "Koone Rizzo Elias Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gorlin Chaudhry Moss Syndrome) AnnotationAssertion( "MESH:C537290"^^xsd:string) AnnotationAssertion( "Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies"^^xsd:string) AnnotationAssertion( "GCM syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001096"^^xsd:string) AnnotationAssertion(rdfs:label "Gorlin Chaudhry Moss Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Absence of Tibia with Congenital Deafness) AnnotationAssertion( "MIM:275230"^^xsd:string) AnnotationAssertion( "MESH:C564764"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001097"^^xsd:string) AnnotationAssertion(rdfs:label "Absence of Tibia with Congenital Deafness"^^xsd:string) SubClassOf( ) # Class: (Optic Nerve Aplasia, Bilateral) AnnotationAssertion( "MESH:C563493"^^xsd:string) AnnotationAssertion( "RDO:0012736"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001098"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Nerve Aplasia, Bilateral"^^xsd:string) SubClassOf( ) # Class: (Hydranencephaly with Renal Aplasia-Dysplasia) AnnotationAssertion( "MESH:C565507"^^xsd:string) AnnotationAssertion( "RDO:0014123"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001099"^^xsd:string) AnnotationAssertion(rdfs:label "Hydranencephaly with Renal Aplasia-Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Gemignani Syndrome) AnnotationAssertion( "MESH:C537678"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001101"^^xsd:string) AnnotationAssertion(rdfs:label "Gemignani Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radiodermatitis) AnnotationAssertion(Annotation( "MESH:D011855"^^xsd:string) "A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation."^^xsd:string) AnnotationAssertion( "MESH:D011855"^^xsd:string) AnnotationAssertion( "Radiation Induced Dermatitis"^^xsd:string) AnnotationAssertion( "Radiation Recall Dermatitides"^^xsd:string) AnnotationAssertion( "Radiation Recall Dermatitis"^^xsd:string) AnnotationAssertion( "Radiation Recall Reaction"^^xsd:string) AnnotationAssertion( "Radiation Recall Reactions"^^xsd:string) AnnotationAssertion( "Radiation-Induced Dermatitides"^^xsd:string) AnnotationAssertion( "Radiodermatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001102"^^xsd:string) AnnotationAssertion(rdfs:label "Radiodermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Heat Stress Disorders) AnnotationAssertion(Annotation( "MESH:D018882"^^xsd:string) "A group of conditions that develop due to overexposure or overexertion in excessive environmental heat."^^xsd:string) AnnotationAssertion( "MESH:D018882"^^xsd:string) AnnotationAssertion( "Heat Cramp"^^xsd:string) AnnotationAssertion( "Heat Cramps"^^xsd:string) AnnotationAssertion( "Heat Stress Disorder"^^xsd:string) AnnotationAssertion( "Heat Stress Syndrome"^^xsd:string) AnnotationAssertion( "Heat Stress Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001103"^^xsd:string) AnnotationAssertion(rdfs:label "Heat Stress Disorders"^^xsd:string) SubClassOf( ) # Class: (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2) AnnotationAssertion( "Characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. Caused by homozygous or compound heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-28T13:28:27Z"^^xsd:string) AnnotationAssertion( "MIM:619351"^^xsd:string) AnnotationAssertion( "MMIHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001104"^^xsd:string) AnnotationAssertion(rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE) AnnotationAssertion(Annotation( "MIM:618973"^^xsd:string) "An autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year of life. Affected individuals show growth retardation with decreasing head circumference and poor feeding. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-15T13:00:54Z"^^xsd:string) AnnotationAssertion( "MIM:618973"^^xsd:string) AnnotationAssertion( "NERIB"^^xsd:string) AnnotationAssertion( "SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY SMVT DEFICIENCY"^^xsd:string) AnnotationAssertion( "infantile-onset biotin-responsive neurodegeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001105"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE"^^xsd:string) SubClassOf( ) # Class: (Congenital Muscular Dystrophy plus Mental Retardation) AnnotationAssertion( "RDO:0014121"^^xsd:string) AnnotationAssertion( "MESH:C565505"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001106"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy plus Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death) AnnotationAssertion( "MIM:208910"^^xsd:string) AnnotationAssertion( "MESH:C565930"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001107"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Anorexia) AnnotationAssertion(Annotation( "MESH:D000855"^^xsd:string) "The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA."^^xsd:string) AnnotationAssertion( "MESH:D000855"^^xsd:string) AnnotationAssertion( "Anorexias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001109"^^xsd:string) AnnotationAssertion(rdfs:label "Anorexia"^^xsd:string) SubClassOf( ) # Class: (Hermansky-Pudlak Syndrome 11) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-01T18:19:20Z"^^xsd:string) AnnotationAssertion( "MIM:619172"^^xsd:string) AnnotationAssertion( "HPS11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001110"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak Syndrome 11"^^xsd:string) SubClassOf( ) # Class: (Blast Injuries) AnnotationAssertion(Annotation( "MESH:D001753"^^xsd:string) "Injuries resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D001753"^^xsd:string) AnnotationAssertion( "Blast Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001111"^^xsd:string) AnnotationAssertion(rdfs:label "Blast Injuries"^^xsd:string) SubClassOf( ) # Class: (Nievergelt Syndrome) AnnotationAssertion( "MIM:163400"^^xsd:string) AnnotationAssertion( "MESH:C536120"^^xsd:string) AnnotationAssertion( "Mesomelic Dysplasia, Nievergelt Type"^^xsd:string) AnnotationAssertion( "Mesomelic dwarfism Nievergelt type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001112"^^xsd:string) AnnotationAssertion(rdfs:label "Nievergelt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stab Wounds) AnnotationAssertion(Annotation( "MESH:D014951"^^xsd:string) "Penetrating wounds caused by a pointed object."^^xsd:string) AnnotationAssertion( "MESH:D014951"^^xsd:string) AnnotationAssertion( "Stab Wound"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001113"^^xsd:string) AnnotationAssertion(rdfs:label "Stab Wounds"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies) AnnotationAssertion(Annotation( "MIM:619750"^^xsd:string) "A systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. caused by heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-24T09:53:37Z"^^xsd:string) AnnotationAssertion( "MIM:619750"^^xsd:string) AnnotationAssertion( "IMD94"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001114"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Orbital Fractures) AnnotationAssertion(Annotation( "MESH:D009917"^^xsd:string) "Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma."^^xsd:string) AnnotationAssertion( "EFO:0009611"^^xsd:string) AnnotationAssertion( "MESH:D009917"^^xsd:string) AnnotationAssertion( "Blow Out Fractures"^^xsd:string) AnnotationAssertion( "Blow-Out Fracture"^^xsd:string) AnnotationAssertion( "Orbital Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001115"^^xsd:string) AnnotationAssertion(rdfs:label "Orbital Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation with Spastic Paraplegia) AnnotationAssertion( "MIM:309640"^^xsd:string) AnnotationAssertion( "MESH:C564099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001116"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation with Spastic Paraplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 8) AnnotationAssertion( "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Caused by homozygous or compound heterozygous mutation in the LSM11 gene on chromosome 5q33. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T10:47:23Z"^^xsd:string) AnnotationAssertion( "MIM:619486"^^xsd:string) AnnotationAssertion( "AGS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001117"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Equinus Deformity) AnnotationAssertion(Annotation( "MESH:D004863"^^xsd:string) "Plantar declination of the foot."^^xsd:string) AnnotationAssertion( "MESH:D004863"^^xsd:string) AnnotationAssertion( "Equinus Contracture"^^xsd:string) AnnotationAssertion( "Equinus Contractures"^^xsd:string) AnnotationAssertion( "Equinus Deformities"^^xsd:string) AnnotationAssertion( "Talipes Equinovalgus"^^xsd:string) AnnotationAssertion( "Talipes Equinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001118"^^xsd:string) AnnotationAssertion(rdfs:label "Equinus Deformity"^^xsd:string) SubClassOf( ) # Class: (chondromyxoid fibroma) AnnotationAssertion(Annotation( "NCI:C3830"^^xsd:string) "This tumor is an uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-10T18:08:06Z"^^xsd:string) AnnotationAssertion( "EFO:0000332"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001119"^^xsd:string) AnnotationAssertion(rdfs:label "chondromyxoid fibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Platybasia) AnnotationAssertion(Annotation( "MESH:D010985"^^xsd:string) "A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D010985"^^xsd:string) AnnotationAssertion( "Basilar Impression"^^xsd:string) AnnotationAssertion( "Basilar Impressions"^^xsd:string) AnnotationAssertion( "Platybasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001121"^^xsd:string) AnnotationAssertion(rdfs:label "Platybasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Onat Syndrome) AnnotationAssertion( "MIM:271960"^^xsd:string) AnnotationAssertion( "MESH:C537749"^^xsd:string) AnnotationAssertion( "Subaortic stenosis short stature syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001122"^^xsd:string) AnnotationAssertion(rdfs:label "Onat Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Preeclampsia/Eclampsia 2) AnnotationAssertion( "MIM:609402"^^xsd:string) AnnotationAssertion( "MESH:C563726"^^xsd:string) AnnotationAssertion( "PEE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001123"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclampsia/Eclampsia 2"^^xsd:string) SubClassOf( ) # Class: (Chromosome 4 Short Arm Deletion) AnnotationAssertion( "MESH:C537637"^^xsd:string) AnnotationAssertion( "Chromosome 4p deletion"^^xsd:string) AnnotationAssertion( "Deletion 4p"^^xsd:string) AnnotationAssertion( "Monosomy 4p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001124"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4 Short Arm Deletion"^^xsd:string) SubClassOf( ) # Class: (Vohwinkel Syndrome, Variant Form) AnnotationAssertion( "MIM:604117"^^xsd:string) AnnotationAssertion( "MESH:C565826"^^xsd:string) AnnotationAssertion( "RDO:0014364"^^xsd:string) AnnotationAssertion( "LORICRIN KERATODERMA"^^xsd:string) AnnotationAssertion( "Mutilating Keratoderma with Ichthyosis"^^xsd:string) AnnotationAssertion( "Vohwinkel Syndrome with Ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001125"^^xsd:string) AnnotationAssertion(rdfs:label "Vohwinkel Syndrome, Variant Form"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Porokeratosis 2, Palmar, Plantar, and Disseminated Type) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs. POROK2 maps to chromosome 12q24. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:175850"^^xsd:string) AnnotationAssertion( "MESH:C536338"^^xsd:string) AnnotationAssertion( "POROK2"^^xsd:string) AnnotationAssertion( "PPPD"^^xsd:string) AnnotationAssertion( "PPPD1"^^xsd:string) AnnotationAssertion( "Porokeratosis Punctata Palmaris et Plantaris"^^xsd:string) AnnotationAssertion( "porokeratosis palmaris et plantaris disseminata"^^xsd:string) AnnotationAssertion( "porokeratosis, palmar, plantar, and disseminated"^^xsd:string) AnnotationAssertion( "porokeratosis, palmar, plantar, and disseminated 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001127"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 2, Palmar, Plantar, and Disseminated Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Usher Syndrome, Type 2B) AnnotationAssertion( "MESH:C536491"^^xsd:string) AnnotationAssertion( "RDO:0002093"^^xsd:string) AnnotationAssertion( "USHER SYNDROME, TYPE IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001128"^^xsd:string) AnnotationAssertion(rdfs:label "Usher Syndrome, Type 2B"^^xsd:string) SubClassOf( ) # Class: (Alcohol Withdrawal Delirium) AnnotationAssertion(Annotation( "MESH:D000430"^^xsd:string) "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)"^^xsd:string) AnnotationAssertion( "EFO:1000800"^^xsd:string) AnnotationAssertion( "MESH:D000430"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Associated Autonomic Hyperactivity"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Hallucinosis"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Induced Delirium Tremens"^^xsd:string) AnnotationAssertion( "Delirium Tremens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001129"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol Withdrawal Delirium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Limb-Girdle Myasthenia, with Tubular Aggregates) AnnotationAssertion( "RDO:0014787"^^xsd:string) AnnotationAssertion( "MESH:C566434"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001130"^^xsd:string) AnnotationAssertion(rdfs:label "Limb-Girdle Myasthenia, with Tubular Aggregates"^^xsd:string) SubClassOf( ) # Class: (stress-related disorder) AnnotationAssertion(Annotation( "EFO:0010098"^^xsd:string) "This is a mental health disorder that is the result of an atypical response to both short and long-term anxiety due to physical, mental, or emotional stress."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-27T10:18:20Z"^^xsd:string) AnnotationAssertion( "EFO:0010098"^^xsd:string) AnnotationAssertion( "stress-related disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001131"^^xsd:string) AnnotationAssertion(rdfs:label "stress-related disorder"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Nonsyndromic Deafness 82) AnnotationAssertion(Annotation( "MIM:619804"^^xsd:string) "Characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Caused by heterozygous mutation in the ATP2B2 gene on chromosome 3p26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-25T12:19:34Z"^^xsd:string) AnnotationAssertion( "ATP2B2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619804"^^xsd:string) AnnotationAssertion( "ATP2B2-RELATED PROGRESSIVE HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "DFNA82"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001133"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 82"^^xsd:string) SubClassOf( ) # Class: (Cryptomicrotia Brachydactyly Syndrome) AnnotationAssertion( "MIM:123560"^^xsd:string) AnnotationAssertion( "MESH:C536219"^^xsd:string) AnnotationAssertion( "Cryptomicrotia brachydactyly syndrome excess fingertip arch"^^xsd:string) AnnotationAssertion( "Tonoki Ohura Niikawa syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001134"^^xsd:string) AnnotationAssertion(rdfs:label "Cryptomicrotia Brachydactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Systemic Necrotizing Angiitis) AnnotationAssertion( "MESH:C536779"^^xsd:string) AnnotationAssertion( "Systemic necrotizing angitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001135"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Necrotizing Angiitis"^^xsd:string) SubClassOf( ) # Class: (Familial Cerebral Cavernous Malformation) AnnotationAssertion( "GARD:13641"^^xsd:string) AnnotationAssertion( "MESH:C536610"^^xsd:string) AnnotationAssertion( "MONDO:0031037"^^xsd:string) AnnotationAssertion( "Familial cavernous hemangioma"^^xsd:string) AnnotationAssertion( "Familial cerebral cavernous angioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001136"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cerebral Cavernous Malformation"^^xsd:string) SubClassOf( ) # Class: (Mesomelic Dysplasia, Camera Type) AnnotationAssertion( "MIM:611886"^^xsd:string) AnnotationAssertion( "MESH:C567503"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001137"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Dysplasia, Camera Type"^^xsd:string) SubClassOf( ) # Class: (Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract) AnnotationAssertion( "MIM:226985"^^xsd:string) AnnotationAssertion( "MESH:C565584"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001138"^^xsd:string) AnnotationAssertion(rdfs:label "Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Androgenetic Alopecia 2) AnnotationAssertion( "MIM:300710"^^xsd:string) AnnotationAssertion( "RDO:0015536"^^xsd:string) AnnotationAssertion( "MESH:C567473"^^xsd:string) AnnotationAssertion( "AGA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001139"^^xsd:string) AnnotationAssertion(rdfs:label "Androgenetic Alopecia 2"^^xsd:string) SubClassOf( ) # Class: (Familial Partial Lipodystrophy Type 7) AnnotationAssertion( "MIM:606721"^^xsd:string) AnnotationAssertion( "MESH:C564669"^^xsd:string) AnnotationAssertion( "FPLD7"^^xsd:string) AnnotationAssertion( "LCCNS"^^xsd:string) AnnotationAssertion( "Lipodystrophy with Congenital Cataracts and Neurodegeneration"^^xsd:string) AnnotationAssertion( "PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001140"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Partial Lipodystrophy Type 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 66) AnnotationAssertion(Annotation( "MIM:619910"^^xsd:string) "Characterized by global developmental delay with mild to moderately impaired intellectual development and mild speech delay. Caused by heterozygous mutation in the ATP2B1 gene on chromosome 12q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-13T11:22:27Z"^^xsd:string) AnnotationAssertion( "MIM:619910"^^xsd:string) AnnotationAssertion( "MRD66"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 66"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001141"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 66"^^xsd:string) SubClassOf( ) # Class: (Drug-Induced Agranulocytosis) AnnotationAssertion( "Agranulocytosis related to ingestion of a specific medication (e.g.:clozapine). "^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001180"^^xsd:string) AnnotationAssertion( "clozapine-induced agranulocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001142"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Agranulocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intertrigo) AnnotationAssertion(Annotation( "MESH:D007402"^^xsd:string) "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation."^^xsd:string) AnnotationAssertion( "MESH:D007402"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001143"^^xsd:string) AnnotationAssertion(rdfs:label "Intertrigo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Headache Disorders) AnnotationAssertion(Annotation( "MESH:D051270"^^xsd:string) "Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes."^^xsd:string) AnnotationAssertion( "RDO:0006127"^^xsd:string) AnnotationAssertion( "MESH:D051270"^^xsd:string) AnnotationAssertion( "Alarm Clock Headache"^^xsd:string) AnnotationAssertion( "Benign Cough Headache"^^xsd:string) AnnotationAssertion( "Benign Cough Headaches"^^xsd:string) AnnotationAssertion( "Benign Exertional Headache"^^xsd:string) AnnotationAssertion( "Benign Exertional Headaches"^^xsd:string) AnnotationAssertion( "Cough Headache"^^xsd:string) AnnotationAssertion( "Hypnic Headache"^^xsd:string) AnnotationAssertion( "Hypnic Headache Syndrome"^^xsd:string) AnnotationAssertion( "Hypnic Headache Syndromes"^^xsd:string) AnnotationAssertion( "Ice Pick Headache"^^xsd:string) AnnotationAssertion( "Ice-Pick Headaches"^^xsd:string) AnnotationAssertion( "Primary Cough Headache"^^xsd:string) AnnotationAssertion( "Primary Exertional Headache"^^xsd:string) AnnotationAssertion( "Primary Headache Disorder"^^xsd:string) AnnotationAssertion( "Primary Stabbing Headache"^^xsd:string) AnnotationAssertion( "Primary Thunderclap Headache"^^xsd:string) AnnotationAssertion( "Stabbing Headache"^^xsd:string) AnnotationAssertion( "alarm clock headaches"^^xsd:string) AnnotationAssertion( "thunderclap headache"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001144"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Headache Disorders"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 1B, Severe) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:14:07Z"^^xsd:string) AnnotationAssertion( "MIM:226700"^^xsd:string) AnnotationAssertion( "JEB1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001145"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 1B, Severe"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-13T12:27:18Z"^^xsd:string) AnnotationAssertion( "MIM:618879"^^xsd:string) AnnotationAssertion( "GPIBD22"^^xsd:string) AnnotationAssertion( "NEDHCAS"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001146"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) AnnotationAssertion( "MIM:600142"^^xsd:string) AnnotationAssertion( "MESH:C563990"^^xsd:string) AnnotationAssertion( "NCI:C202018"^^xsd:string) AnnotationAssertion( "CARASIL"^^xsd:string) AnnotationAssertion( "CARASIL SYNDROME"^^xsd:string) AnnotationAssertion( "Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease"^^xsd:string) AnnotationAssertion( "Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension"^^xsd:string) AnnotationAssertion( "HTRA1-RELATED CEREBRAL SMALL VESSEL DISEASE"^^xsd:string) AnnotationAssertion( "MAEDA Syndrome"^^xsd:string) AnnotationAssertion( "Nemoto Disease"^^xsd:string) AnnotationAssertion( "progressive subcortical vascular encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001147"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Esophageal Perforation) AnnotationAssertion(Annotation( "MESH:D004939"^^xsd:string) "An opening or hole in the ESOPHAGUS that is caused by TRAUMA, injury, or pathological process."^^xsd:string) AnnotationAssertion( "MESH:D004939"^^xsd:string) AnnotationAssertion( "Esophageal Perforations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001148"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Perforation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES) AnnotationAssertion(Annotation( "MIM:618622"^^xsd:string) "An autosomal recessive disorder characterized by severe global developmental delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-11-12T14:56:34Z"^^xsd:string) AnnotationAssertion( "EFO:0010631"^^xsd:string) AnnotationAssertion( "MIM:618622"^^xsd:string) AnnotationAssertion( "NEDMABA"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE CEREBRUM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001150"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pili Torti Onychodysplasia) AnnotationAssertion( "MESH:C537399"^^xsd:string) AnnotationAssertion( "Twisted hair with nail dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001151"^^xsd:string) AnnotationAssertion(rdfs:label "Pili Torti Onychodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block) AnnotationAssertion( "MIM:609438"^^xsd:string) AnnotationAssertion( "MESH:C537452"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001152"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (FG Syndrome 4) AnnotationAssertion( "This disease is an X-linked recessive intellectual developmental disorder characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-17T12:57:19Z"^^xsd:string) AnnotationAssertion( "CASK-related disorder"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, CASK-related"^^xsd:string) AnnotationAssertion( "EFO:0010954"^^xsd:string) AnnotationAssertion( "MIM:300422"^^xsd:string) AnnotationAssertion( "FGS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "X-linked intellectual developmental disorder, with or without nystagmus"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with nystagmus"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with or without nystagmus"^^xsd:string) AnnotationAssertion( "DOID:9001153"^^xsd:string) AnnotationAssertion(rdfs:label "FG Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Flat Umbilicus Familial) AnnotationAssertion( "MIM:609164"^^xsd:string) AnnotationAssertion( "MESH:C537059"^^xsd:string) AnnotationAssertion( "Flat umbilicus autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001154"^^xsd:string) AnnotationAssertion(rdfs:label "Flat Umbilicus Familial"^^xsd:string) SubClassOf( ) # Class: (Myasthenia Gravis with Thymus Hyperplasia) AnnotationAssertion( "MIM:607085"^^xsd:string) AnnotationAssertion( "MESH:C564628"^^xsd:string) AnnotationAssertion( "RDO:0013523"^^xsd:string) AnnotationAssertion( "MYAS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001155"^^xsd:string) AnnotationAssertion(rdfs:label "Myasthenia Gravis with Thymus Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Oculootofacial Dysplasia) AnnotationAssertion( "MESH:C563682"^^xsd:string) AnnotationAssertion( "RDO:0012877"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001156"^^xsd:string) AnnotationAssertion(rdfs:label "Oculootofacial Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Saito Kuba Tsuruta Syndrome) AnnotationAssertion( "MIM:228940"^^xsd:string) AnnotationAssertion( "MESH:C537226"^^xsd:string) AnnotationAssertion( "Fibulo ulnar hypoplasia renal anomalies"^^xsd:string) AnnotationAssertion( "Fibuloulnar aplasia or hypoplasia with renal abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001158"^^xsd:string) AnnotationAssertion(rdfs:label "Saito Kuba Tsuruta Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Dyskeratotic Comedones) AnnotationAssertion( "MIM:120450"^^xsd:string) AnnotationAssertion( "MESH:C562838"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001159"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Dyskeratotic Comedones"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Bullae Causing Pneumothorax) AnnotationAssertion( "MIM:265200"^^xsd:string) AnnotationAssertion( "MESH:C564863"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001160"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Bullae Causing Pneumothorax"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autoinflammatory Disease, Familial, Behcet-Like-3) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-15T12:46:03Z"^^xsd:string) AnnotationAssertion( "MIM:618287"^^xsd:string) AnnotationAssertion( "AIFBL3"^^xsd:string) AnnotationAssertion( "CMCU"^^xsd:string) AnnotationAssertion( "RELA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "chronic mucocutaneous ulceration"^^xsd:string) AnnotationAssertion( "chronic mucocutaneous ulcerations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001161"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammatory Disease, Familial, Behcet-Like-3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness) AnnotationAssertion( "MESH:C565306"^^xsd:string) AnnotationAssertion( "RDO:0013981"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001162"^^xsd:string) AnnotationAssertion(rdfs:label "Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinsonism-Dystonia, Childhood-Onset, 3) AnnotationAssertion(Annotation( "MIM:619738"^^xsd:string) "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T13:02:56Z"^^xsd:string) AnnotationAssertion( "WARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WARS2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619738"^^xsd:string) AnnotationAssertion( "PKDYS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001163"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinsonism-Dystonia, Childhood-Onset, 3"^^xsd:string) SubClassOf( ) # Class: (Proctocolitis) AnnotationAssertion(Annotation( "MESH:D011350"^^xsd:string) "Inflammation of the RECTUM and the distal portion of the COLON."^^xsd:string) AnnotationAssertion( "EFO:1001223"^^xsd:string) AnnotationAssertion( "MESH:D011350"^^xsd:string) AnnotationAssertion( "Hemorrhagic Proctocolitis"^^xsd:string) AnnotationAssertion( "Hemorrhagic Rectocolitis"^^xsd:string) AnnotationAssertion( "Proctosigmoiditis"^^xsd:string) AnnotationAssertion( "Rectocolitis"^^xsd:string) AnnotationAssertion( "Rectosigmoiditis"^^xsd:string) AnnotationAssertion( "Ulcerative Proctocolitides"^^xsd:string) AnnotationAssertion( "Ulcerative Proctocolitis"^^xsd:string) AnnotationAssertion( "Ulcerative Rectocolitides"^^xsd:string) AnnotationAssertion( "Ulcerative Rectocolitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001164"^^xsd:string) AnnotationAssertion(rdfs:label "Proctocolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pemphigus herpetiformis) AnnotationAssertion(Annotation( "EFO:0008606"^^xsd:string) "This is a rare autoimmune bullous skin disorder that is considered a clinical variant of pemphigus. Classically, it combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-16T17:46:54Z"^^xsd:string) AnnotationAssertion( "EFO:0008606"^^xsd:string) AnnotationAssertion( "PH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001165"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus herpetiformis"^^xsd:string) SubClassOf( ) # Class: (atypical femoral fracture) AnnotationAssertion(Annotation( "EFO:0009960"^^xsd:string) "This is a stress or insufficency fracture occurring in the femoral shaft, typically in response to long-term antiresorptive treatment. The term 'atypical' refers to the deviant transverse pattern on the fracture-line on radiographs of the affected femur."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-13T10:18:53Z"^^xsd:string) AnnotationAssertion( "EFO:0009960"^^xsd:string) AnnotationAssertion( "bisphosphonate-related proximal femoral fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001166"^^xsd:string) AnnotationAssertion(rdfs:label "atypical femoral fracture"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM) AnnotationAssertion(Annotation( "MIM:619244"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-14T10:49:24Z"^^xsd:string) AnnotationAssertion( "MIM:619244"^^xsd:string) AnnotationAssertion( "NEDCAFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001167"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ridges-off-the-end Syndrome) AnnotationAssertion( "MIM:125550"^^xsd:string) AnnotationAssertion( "MESH:C531754"^^xsd:string) AnnotationAssertion( "Dermal Ridges-Off-The-End"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001169"^^xsd:string) AnnotationAssertion(rdfs:label "Ridges-off-the-end Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stoll Alembik Dott Syndrome) AnnotationAssertion( "MESH:C537497"^^xsd:string) AnnotationAssertion( "Ventricular extrasystoles with syncope, perodactyly, and robin sequence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001170"^^xsd:string) AnnotationAssertion(rdfs:label "Stoll Alembik Dott Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acrorenal Syndrome Recessive) AnnotationAssertion( "MIM:201310"^^xsd:string) AnnotationAssertion( "RDO:0000916"^^xsd:string) AnnotationAssertion( "MESH:C535666"^^xsd:string) AnnotationAssertion( "Acrorenal syndrome autosomal recessive"^^xsd:string) AnnotationAssertion( "Curran syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001171"^^xsd:string) AnnotationAssertion(rdfs:label "Acrorenal Syndrome Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-08T17:29:07Z"^^xsd:string) AnnotationAssertion( "CMH19"^^xsd:string) AnnotationAssertion( "cardiomyopathy familial hypertrophic 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001172"^^xsd:string) AnnotationAssertion(rdfs:label "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19"^^xsd:string) SubClassOf( ) # Class: (ACTH Syndrome, Ectopic) AnnotationAssertion(Annotation( "MESH:D000182"^^xsd:string) "Symptom complex due to ACTH production by non-pituitary neoplasms."^^xsd:string) AnnotationAssertion( "EFO:1001256"^^xsd:string) AnnotationAssertion( "MESH:D000182"^^xsd:string) AnnotationAssertion( "RDO:0004721"^^xsd:string) AnnotationAssertion( "Ectopic ACTH Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001173"^^xsd:string) AnnotationAssertion(rdfs:label "ACTH Syndrome, Ectopic"^^xsd:string) SubClassOf( ) # Class: (Nakajo Syndrome) AnnotationAssertion( "MESH:C538334"^^xsd:string) AnnotationAssertion( "Nodular Erythema With Digital Changes"^^xsd:string) AnnotationAssertion( "Nodular erythema digital changes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001174"^^xsd:string) AnnotationAssertion(rdfs:label "Nakajo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ganglioneuromatosis of the Alimentary Tract) AnnotationAssertion( "MESH:C563519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001175"^^xsd:string) AnnotationAssertion(rdfs:label "Ganglioneuromatosis of the Alimentary Tract"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperamylasemia) AnnotationAssertion(Annotation( "MESH:D034321"^^xsd:string) "A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes."^^xsd:string) AnnotationAssertion( "EFO:1000969"^^xsd:string) AnnotationAssertion( "MESH:D034321"^^xsd:string) AnnotationAssertion( "RDO:0007485"^^xsd:string) AnnotationAssertion( "Macroamylasemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001176"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperamylasemia"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Fungal Infections) AnnotationAssertion(Annotation( "MESH:D020314"^^xsd:string) "MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME)."^^xsd:string) AnnotationAssertion( "MESH:D020314"^^xsd:string) AnnotationAssertion( "RDO:0007016"^^xsd:string) AnnotationAssertion( "Central Nervous System Mycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001177"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Fungal Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Carcinoma 256, Walker) AnnotationAssertion(Annotation( "MESH:D002279"^^xsd:string) "A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D002279"^^xsd:string) AnnotationAssertion( "Walker Carcinosarcoma 256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001178"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinoma 256, Walker"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isotretinoin Embryopathy Like Syndrome) AnnotationAssertion( "MIM:243440"^^xsd:string) AnnotationAssertion( "MESH:C535542"^^xsd:string) AnnotationAssertion( "Isotretinoin teratogen syndrome"^^xsd:string) AnnotationAssertion( "Microtia aortic arch syndrome"^^xsd:string) AnnotationAssertion( "Syndrome of microtia and aortic arch anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001179"^^xsd:string) AnnotationAssertion(rdfs:label "Isotretinoin Embryopathy Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Duodenal Ulcer, Hyperpepsinogenemic I) AnnotationAssertion( "MIM:126850"^^xsd:string) AnnotationAssertion( "MESH:C565086"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001180"^^xsd:string) AnnotationAssertion(rdfs:label "Duodenal Ulcer, Hyperpepsinogenemic I"^^xsd:string) SubClassOf( ) # Class: (Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism) AnnotationAssertion( "MIM:300845"^^xsd:string) AnnotationAssertion( "CHROMOSOME XQ28 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB"^^xsd:string) AnnotationAssertion( "MYMY4"^^xsd:string) AnnotationAssertion( "syndromic Moyamoya disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001181"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa Inversa) AnnotationAssertion( "MESH:C535958"^^xsd:string) AnnotationAssertion( "MONDO:0019308"^^xsd:string) AnnotationAssertion( "ORDO:79405"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa Inversa Dystrophica"^^xsd:string) AnnotationAssertion( "JEB inversa"^^xsd:string) AnnotationAssertion( "JEB-I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001182"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa Inversa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bhaskar Jagannathan Syndrome) AnnotationAssertion( "MESH:C535437"^^xsd:string) AnnotationAssertion( "RDO:0000547"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001183"^^xsd:string) AnnotationAssertion(rdfs:label "Bhaskar Jagannathan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Widow's Peak Syndrome) AnnotationAssertion( "MIM:314570"^^xsd:string) AnnotationAssertion( "MESH:C564040"^^xsd:string) AnnotationAssertion( "Widow's Peak, Ptosis, and Skeletal Anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001184"^^xsd:string) AnnotationAssertion(rdfs:label "Widow's Peak Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Coloboma of Macula with Type B Brachydactyly) AnnotationAssertion( "MIM:120400"^^xsd:string) AnnotationAssertion( "MESH:C535969"^^xsd:string) AnnotationAssertion( "Apical dystrophy"^^xsd:string) AnnotationAssertion( "Coloboma of Macula - Type B Brachydactyly"^^xsd:string) AnnotationAssertion( "Sorsby syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001185"^^xsd:string) AnnotationAssertion(rdfs:label "Coloboma of Macula with Type B Brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinitis Pigmentosa 93) AnnotationAssertion(Annotation( "MIM:619845"^^xsd:string) "Characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Caused by compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-21T15:06:20Z"^^xsd:string) AnnotationAssertion( "MIM:619845"^^xsd:string) AnnotationAssertion( "RP93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001186"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 93"^^xsd:string) SubClassOf( ) # Class: (Horse Diseases) AnnotationAssertion(Annotation( "MESH:D006734"^^xsd:string) "Diseases of domestic and wild horses of the species Equus caballus."^^xsd:string) AnnotationAssertion( "MESH:D006734"^^xsd:string) AnnotationAssertion( "Equine Disease"^^xsd:string) AnnotationAssertion( "Equine Diseases"^^xsd:string) AnnotationAssertion( "Horse Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001187"^^xsd:string) AnnotationAssertion(rdfs:label "Horse Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Drug Overdose) AnnotationAssertion(Annotation( "MESH:D062787"^^xsd:string) "Accidental or deliberate use of a medication or street drug in excess of normal dosage."^^xsd:string) AnnotationAssertion( "RDO:0012108"^^xsd:string) AnnotationAssertion( "EFO:0020911"^^xsd:string) AnnotationAssertion( "EFO:0020924"^^xsd:string) AnnotationAssertion( "MESH:D062787"^^xsd:string) AnnotationAssertion( "Drug Overdoses"^^xsd:string) AnnotationAssertion( "intentional overdose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001189"^^xsd:string) AnnotationAssertion(rdfs:label "Drug Overdose"^^xsd:string) SubClassOf( ) # Class: (Macrodactyly of the Hand) AnnotationAssertion( "MESH:C537720"^^xsd:string) AnnotationAssertion( "RDO:0003609"^^xsd:string) AnnotationAssertion( "Megalodactylism of the hand"^^xsd:string) AnnotationAssertion( "Megalodactyly of the hand"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001190"^^xsd:string) AnnotationAssertion(rdfs:label "Macrodactyly of the Hand"^^xsd:string) SubClassOf( ) # Class: (Cadmium Poisoning) AnnotationAssertion(Annotation( "MESH:D002105"^^xsd:string) "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis."^^xsd:string) AnnotationAssertion( "EFO:1001768"^^xsd:string) AnnotationAssertion( "MESH:D002105"^^xsd:string) AnnotationAssertion( "RDO:0005092"^^xsd:string) AnnotationAssertion( "Cadmium Poisonings"^^xsd:string) AnnotationAssertion( "Itai Itai"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001191"^^xsd:string) AnnotationAssertion(rdfs:label "Cadmium Poisoning"^^xsd:string) SubClassOf( ) # Class: (Alpha-2-Deficient Collagen Disease) AnnotationAssertion( "MIM:203760"^^xsd:string) AnnotationAssertion( "MESH:C565963"^^xsd:string) AnnotationAssertion( "Meigel Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001192"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-2-Deficient Collagen Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Anadysplasia) AnnotationAssertion( "MESH:C537351"^^xsd:string) AnnotationAssertion( "Early-onset regressive form of metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001193"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Anadysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Teebi Kaurah Syndrome) AnnotationAssertion( "MESH:C536948"^^xsd:string) AnnotationAssertion( "RDO:0002677"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001195"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi Kaurah Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nervous System Heredodegenerative Disorders) AnnotationAssertion(Annotation( "MESH:D020271"^^xsd:string) "Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems."^^xsd:string) AnnotationAssertion( "MESH:D020271"^^xsd:string) AnnotationAssertion( "Degenerative Disease, Nervous System, Hereditary"^^xsd:string) AnnotationAssertion( "Degenerative Hereditary Disorders, Nervous System"^^xsd:string) AnnotationAssertion( "Hereditary Neurodegenerative Disease"^^xsd:string) AnnotationAssertion( "Hereditary Neurodegenerative Diseases"^^xsd:string) AnnotationAssertion( "INHERITED NEURODEGENERATIVE DISORDER"^^xsd:string) AnnotationAssertion( "Nervous System Degenerative Hereditary Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001196"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Heredodegenerative Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Unilateral Deafness with Delayed Endolymphatic Hydrops) AnnotationAssertion( "MIM:612097"^^xsd:string) AnnotationAssertion( "MESH:C567420"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001197"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Deafness with Delayed Endolymphatic Hydrops"^^xsd:string) SubClassOf( ) # Class: (Hypophosphatemic Rickets, Autosomal Recessive, 2) AnnotationAssertion( "MIM:613312"^^xsd:string) AnnotationAssertion( "MESH:C567647"^^xsd:string) AnnotationAssertion( "ARHR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001198"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophosphatemic Rickets, Autosomal Recessive, 2"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat Syndrome 7) AnnotationAssertion(Annotation( "MIM:618348"^^xsd:string) "Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome. GAMOS7 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-12T12:03:52Z"^^xsd:string) AnnotationAssertion( "MIM:618348"^^xsd:string) AnnotationAssertion( "GAMOS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001199"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat Syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Xylosidase Deficiency) AnnotationAssertion( "MIM:278900"^^xsd:string) AnnotationAssertion( "MESH:C564730"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001200"^^xsd:string) AnnotationAssertion(rdfs:label "Xylosidase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Methemoglobinemia, Alpha-Globin Type) AnnotationAssertion( "MIM:617973"^^xsd:string) AnnotationAssertion( "MESH:C564194"^^xsd:string) AnnotationAssertion( "ERYTHREMIA, ALPHA-GLOBIN TYPE"^^xsd:string) AnnotationAssertion( "methemoglobinemia, alpha type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (IWATE)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (KANKAKEE)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (OLDENBURG)"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (SENDAI)"^^xsd:string) AnnotationAssertion( "DOID:9001201"^^xsd:string) AnnotationAssertion(rdfs:label "Methemoglobinemia, Alpha-Globin Type"^^xsd:string) SubClassOf( ) # Class: (Aryl Hydrocarbon Hydroxylase Inducibility) AnnotationAssertion( "MIM:108340"^^xsd:string) AnnotationAssertion( "MESH:C566250"^^xsd:string) AnnotationAssertion( "AHH Inducibility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001202"^^xsd:string) AnnotationAssertion(rdfs:label "Aryl Hydrocarbon Hydroxylase Inducibility"^^xsd:string) SubClassOf( ) # Class: (Turnpenny-Fry Syndrome) AnnotationAssertion(Annotation( "MIM:618371"^^xsd:string) "Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. TPFS is caused by heterozygous mutation in the PCGF2 gene on chromosome 17q12."^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-29T12:30:47Z"^^xsd:string) AnnotationAssertion( "MIM:618371"^^xsd:string) AnnotationAssertion( "NEUROCARDIOSKELETAL SYNDROME"^^xsd:string) AnnotationAssertion( "PCGF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001203"^^xsd:string) AnnotationAssertion(rdfs:label "Turnpenny-Fry Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dyspepsia) AnnotationAssertion( "Impaired digestion, especially after eating."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T08:01:43Z"^^xsd:string) AnnotationAssertion( "DOID:2321"^^xsd:string) AnnotationAssertion( "EFO:0008533"^^xsd:string) AnnotationAssertion( "MESH:D004415"^^xsd:string) AnnotationAssertion( "NCI:C26756"^^xsd:string) AnnotationAssertion( "Dyspepsia, indigestion"^^xsd:string) AnnotationAssertion( "Indigestion"^^xsd:string) AnnotationAssertion( "dyspepsias"^^xsd:string) AnnotationAssertion( "indigestions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001204"^^xsd:string) AnnotationAssertion(rdfs:label "Dyspepsia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Orchitis) AnnotationAssertion( "EAO"^^xsd:string) AnnotationAssertion( "autoimmune aspermatogenic orchitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001205"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Orchitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CoQ-Responsive OXPHOS Deficiency) AnnotationAssertion( "MIM:608158"^^xsd:string) AnnotationAssertion( "MESH:C535470"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001206"^^xsd:string) AnnotationAssertion(rdfs:label "CoQ-Responsive OXPHOS Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Disseminated Hemangiomatosis) AnnotationAssertion( "MESH:C566283"^^xsd:string) AnnotationAssertion( "RDO:0014679"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001207"^^xsd:string) AnnotationAssertion(rdfs:label "Disseminated Hemangiomatosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cohen-Gibson Syndrome) AnnotationAssertion( "An overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617561"^^xsd:string) AnnotationAssertion( "COGIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001209"^^xsd:string) AnnotationAssertion(rdfs:label "Cohen-Gibson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteoarthritis with Mild Chondrodysplasia) AnnotationAssertion( "MIM:604864"^^xsd:string) AnnotationAssertion( "MESH:C565740"^^xsd:string) AnnotationAssertion( "NCI:C202115"^^xsd:string) AnnotationAssertion( "RDO:0014298"^^xsd:string) AnnotationAssertion( "NAMAQUALAND HIP DYSPLASIA"^^xsd:string) AnnotationAssertion( "NHD"^^xsd:string) AnnotationAssertion( "OSCDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001210"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoarthritis with Mild Chondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cerebral venous thrombosis) AnnotationAssertion(Annotation( "HP:0005305"^^xsd:string) "This disease involves formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-09-26T13:03:09Z"^^xsd:string) AnnotationAssertion( "CVT"^^xsd:string) AnnotationAssertion( "cerebral vein thrombosis"^^xsd:string) AnnotationAssertion( "thrombosis of cerebral vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001211"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral venous thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XX Gonadal Dysgenesis Epibulbar Dermoid) AnnotationAssertion( "MESH:C535316"^^xsd:string) AnnotationAssertion( "RDO:0000363"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001212"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX Gonadal Dysgenesis Epibulbar Dermoid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT) AnnotationAssertion(Annotation( "MIM:191800"^^xsd:string) "An autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-11T10:28:54Z"^^xsd:string) AnnotationAssertion( "CHRNA3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:191800"^^xsd:string) AnnotationAssertion( "ACONTRACTILE DETRUSOR"^^xsd:string) AnnotationAssertion( "BAIPRCK"^^xsd:string) AnnotationAssertion( "URINARY BLADDER, ATONY OF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001213"^^xsd:string) AnnotationAssertion(rdfs:label "BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sick Sinus Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T15:47:04Z"^^xsd:string) AnnotationAssertion( "MIM:614090"^^xsd:string) AnnotationAssertion( "SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "SSS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001215"^^xsd:string) AnnotationAssertion(rdfs:label "Sick Sinus Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia) AnnotationAssertion( "MESH:C564704"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001216"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Apudoma) AnnotationAssertion(Annotation( "MESH:D001079"^^xsd:string) "A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification."^^xsd:string) AnnotationAssertion( "MESH:D001079"^^xsd:string) AnnotationAssertion( "Apudomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001218"^^xsd:string) AnnotationAssertion(rdfs:label "Apudoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (respiratory toxicity) AnnotationAssertion(Annotation( "EFO:0011060"^^xsd:string) "This is toxicity that impairs the respiratory system or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-20T15:06:19Z"^^xsd:string) AnnotationAssertion( "EFO:0011060"^^xsd:string) AnnotationAssertion( "lung toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001219"^^xsd:string) AnnotationAssertion(rdfs:label "respiratory toxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X Chromosome, Trisomy Xpter Xq13) AnnotationAssertion( "MESH:C536731"^^xsd:string) AnnotationAssertion( "RDO:0002397"^^xsd:string) AnnotationAssertion( "Duplication Xpter Xq13"^^xsd:string) AnnotationAssertion( "Trisomy Xpter Xq13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001220"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Trisomy Xpter Xq13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia Paris-Trousseau Type) AnnotationAssertion( "MIM:188025"^^xsd:string) AnnotationAssertion( "MESH:C538617"^^xsd:string) AnnotationAssertion( "RDO:0004544"^^xsd:string) AnnotationAssertion( "CHROMOSOME 11q23 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "TCPT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001221"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia Paris-Trousseau Type"^^xsd:string) SubClassOf( ) # Class: (Renal-Hepatic-Pancreatic Dysplasia 2) AnnotationAssertion( "MIM:615415"^^xsd:string) AnnotationAssertion( "RHPD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001222"^^xsd:string) AnnotationAssertion(rdfs:label "Renal-Hepatic-Pancreatic Dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Chromosome 10, Uniparental Disomy of) AnnotationAssertion( "MESH:C538292"^^xsd:string) AnnotationAssertion( "Mosaic trisomy 10"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001223"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10, Uniparental Disomy of"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Striae Distensae) AnnotationAssertion(Annotation( "MESH:D057896"^^xsd:string) "Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems."^^xsd:string) AnnotationAssertion( "MESH:D057896"^^xsd:string) AnnotationAssertion( "Stretch Mark"^^xsd:string) AnnotationAssertion( "Stretch Marks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001224"^^xsd:string) AnnotationAssertion(rdfs:label "Striae Distensae"^^xsd:string) SubClassOf( ) # Class: (Sclerotylosis) AnnotationAssertion( "Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation. HRZ is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:0003383"^^xsd:string) AnnotationAssertion( "MESH:C537526"^^xsd:string) AnnotationAssertion( "MIM:181600"^^xsd:string) AnnotationAssertion( "HRZ"^^xsd:string) AnnotationAssertion( "Huriez syndrome"^^xsd:string) AnnotationAssertion( "KERATODERMA WITH SCLEROATROPHY OF THE EXTREMITIES"^^xsd:string) AnnotationAssertion( "Scleroatrophic and keratotic dermatosis of limbs"^^xsd:string) AnnotationAssertion( "TYS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001225"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerotylosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related) AnnotationAssertion( "RDO:0012638"^^xsd:string) AnnotationAssertion( "MESH:C563358"^^xsd:string) AnnotationAssertion( "DOID:9001820"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001227"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fungemia) AnnotationAssertion(Annotation( "MESH:D016469"^^xsd:string) "The presence of fungi circulating in the blood. Opportunistic fungal sepsis is seen most often in immunosuppressed patients with severe neutropenia or in postoperative patients with intravenous catheters and usually follows prolonged antibiotic therapy."^^xsd:string) AnnotationAssertion( "MESH:D016469"^^xsd:string) AnnotationAssertion( "RDO:0006958"^^xsd:string) AnnotationAssertion( "Fungemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001228"^^xsd:string) AnnotationAssertion(rdfs:label "Fungemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arthrogryposis Epileptic Seizures Migrational Brain Disorder) AnnotationAssertion( "MESH:C537442"^^xsd:string) AnnotationAssertion( "RDO:0003285"^^xsd:string) AnnotationAssertion( "Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001229"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis Epileptic Seizures Migrational Brain Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Universal Melanosis) AnnotationAssertion( "MESH:C563594"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001230"^^xsd:string) AnnotationAssertion(rdfs:label "Universal Melanosis"^^xsd:string) SubClassOf( ) # Class: (Sessile Serrated Polyposis Cancer Syndrome) AnnotationAssertion( "A rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617108"^^xsd:string) AnnotationAssertion( "MONDO:0014919"^^xsd:string) AnnotationAssertion( "RNF43-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SSPCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001231"^^xsd:string) AnnotationAssertion(rdfs:label "Sessile Serrated Polyposis Cancer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pili Annulati) AnnotationAssertion( "MIM:180600"^^xsd:string) AnnotationAssertion( "MESH:C537187"^^xsd:string) AnnotationAssertion( "Ringed hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001232"^^xsd:string) AnnotationAssertion(rdfs:label "Pili Annulati"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Prenatal Exposure Delayed Effects) AnnotationAssertion(Annotation( "MESH:D011297"^^xsd:string) "The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH."^^xsd:string) AnnotationAssertion( "MESH:D011297"^^xsd:string) AnnotationAssertion( "RDO:0006410"^^xsd:string) AnnotationAssertion( "Late Effects, Prenatal Exposure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001234"^^xsd:string) AnnotationAssertion(rdfs:label "Prenatal Exposure Delayed Effects"^^xsd:string) SubClassOf( ) # Class: (Pruritus Ani) AnnotationAssertion(Annotation( "MESH:D011538"^^xsd:string) "Intense chronic itching in the anal area."^^xsd:string) AnnotationAssertion( "MESH:D011538"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001235"^^xsd:string) AnnotationAssertion(rdfs:label "Pruritus Ani"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Endarteritis) AnnotationAssertion(Annotation( "MESH:D004692"^^xsd:string) "Inflammation of the inner endothelial lining (TUNICA INTIMA) of an artery."^^xsd:string) AnnotationAssertion( "EFO:0009084"^^xsd:string) AnnotationAssertion( "MESH:D004692"^^xsd:string) AnnotationAssertion( "RDO:0005481"^^xsd:string) AnnotationAssertion( "Endarteritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001236"^^xsd:string) AnnotationAssertion(rdfs:label "Endarteritis"^^xsd:string) SubClassOf( ) # Class: (Malignant Atrophic Papulosis) AnnotationAssertion(Annotation( "MESH:D054853"^^xsd:string) "Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown."^^xsd:string) AnnotationAssertion( "MIM:602248"^^xsd:string) AnnotationAssertion( "MESH:D054853"^^xsd:string) AnnotationAssertion( "Degos Disease"^^xsd:string) AnnotationAssertion( "Degos Syndrome"^^xsd:string) AnnotationAssertion( "Degos's Malignant Atrophic Papulosis"^^xsd:string) AnnotationAssertion( "Erythrokeratoderma en cocardes"^^xsd:string) AnnotationAssertion( "Kohlmeier-Degos Disease"^^xsd:string) AnnotationAssertion( "Malignant Atrophic Papuloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001237"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Atrophic Papulosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Growth Hormone Excess) AnnotationAssertion( "MESH:C531600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001238"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Hormone Excess"^^xsd:string) SubClassOf( ) # Class: (Delayed Puberty) AnnotationAssertion(Annotation( "MESH:D011628"^^xsd:string) "The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not."^^xsd:string) AnnotationAssertion( "MESH:D011628"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001239"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Puberty"^^xsd:string) SubClassOf( ) # Class: (Peripheral Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D059348"^^xsd:string) "Injuries to the PERIPHERAL NERVES."^^xsd:string) AnnotationAssertion( "EFO:0009510"^^xsd:string) AnnotationAssertion( "MESH:D059348"^^xsd:string) AnnotationAssertion( "Peripheral Nerve Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001240"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bronchial Neoplasms) AnnotationAssertion(Annotation( "MESH:D001984"^^xsd:string) "Tumors or cancer of the BRONCHI."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T09:15:38Z"^^xsd:string) AnnotationAssertion( "EFO:1000849"^^xsd:string) AnnotationAssertion( "MESH:D001984"^^xsd:string) AnnotationAssertion( "bronchial neoplasm"^^xsd:string) AnnotationAssertion( "bronchial neoplasms"^^xsd:string) AnnotationAssertion( "bronchus neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of bronchus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001241"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchial Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alopecia, Hypogonadism, Extrapyramidal Disorder) AnnotationAssertion( "MESH:C537053"^^xsd:string) AnnotationAssertion( "Progressive extrapyramidal disorder with primary hypogonadism and alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001242"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia, Hypogonadism, Extrapyramidal Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Arteriovenous Fistulas) AnnotationAssertion( "MIM:265140"^^xsd:string) AnnotationAssertion( "MESH:C562404"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001243"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Arteriovenous Fistulas"^^xsd:string) SubClassOf( ) # Class: (Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis) AnnotationAssertion(Annotation( "MIM:620138"^^xsd:string) "An autosomal recessive disorder of skeletal muscle characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-05T08:37:33Z"^^xsd:string) AnnotationAssertion( "MIM:620138"^^xsd:string) AnnotationAssertion( "MMCKR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001244"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 2A, Intermediate) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:38:49Z"^^xsd:string) AnnotationAssertion( "MIM:619783"^^xsd:string) AnnotationAssertion( "JEB2A"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 2A, Generalized Intermediate"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 2A, Non-Herlitz Type"^^xsd:string) AnnotationAssertion( "intermediate junctional epidermolysis bullosa 2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001245"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 2A, Intermediate"^^xsd:string) SubClassOf( ) # Class: (Non-Filarial Lymphedema) AnnotationAssertion(Annotation( "MESH:D062846"^^xsd:string) "A form of elephantiasis caused by soil particles which penetrate the skin of the foot. It is limited to tropical regions with soils of high volcanic content."^^xsd:string) AnnotationAssertion( "MESH:D062846"^^xsd:string) AnnotationAssertion( "RDO:0012110"^^xsd:string) AnnotationAssertion( "Non-Filarial Lymphedemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001246"^^xsd:string) AnnotationAssertion(rdfs:label "Non-Filarial Lymphedema"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat Syndrome 9) AnnotationAssertion(Annotation( "MIM:619603"^^xsd:string) "An autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. Caused by homozygous mutation in the GON7 gene on chromosome 14q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-10T13:43:35Z"^^xsd:string) AnnotationAssertion( "MIM:619603"^^xsd:string) AnnotationAssertion( "GAMOS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001247"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat Syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency) AnnotationAssertion( "MIM:615425"^^xsd:string) AnnotationAssertion( "EBS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EBSB2"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex, autosomal recessive 2"^^xsd:string) AnnotationAssertion( "DOID:9001248"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Bernard-Soulier Syndrome Type A1) AnnotationAssertion( "MESH:C565548"^^xsd:string) AnnotationAssertion( "Bernard-Soulier syndrome type A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001249"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier Syndrome Type A1"^^xsd:string) SubClassOf( ) # Class: (Transient Neonatal Diabetes Mellitus, 3) AnnotationAssertion( "MIM:610582"^^xsd:string) AnnotationAssertion( "MESH:C566432"^^xsd:string) AnnotationAssertion( "TNDM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001250"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Diabetes Mellitus, 3"^^xsd:string) SubClassOf( ) # Class: (Microspherophakia) AnnotationAssertion( "MESH:C563255"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001251"^^xsd:string) AnnotationAssertion(rdfs:label "Microspherophakia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glutaric Aciduria 2) AnnotationAssertion( "MESH:C536834"^^xsd:string) AnnotationAssertion( "GLUTARIC ACIDEMIA TYPE 2A"^^xsd:string) AnnotationAssertion( "Glutaric acidemia 2 A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001253"^^xsd:string) AnnotationAssertion(rdfs:label "Glutaric Aciduria 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex 5D with Nail Dystrophy) AnnotationAssertion( "MIM:616487"^^xsd:string) AnnotationAssertion( "EBS5D"^^xsd:string) AnnotationAssertion( "EBSND"^^xsd:string) AnnotationAssertion( "autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex with nail dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001254"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 5D with Nail Dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kabuki Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-19T15:17:15Z"^^xsd:string) AnnotationAssertion( "KMT2D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KMT2D-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:147920"^^xsd:string) AnnotationAssertion( "KABUK1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001255"^^xsd:string) AnnotationAssertion(rdfs:label "Kabuki Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Nabais Sa-de Vries Syndrome, Type 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-15T14:42:29Z"^^xsd:string) AnnotationAssertion( "MIM:618828"^^xsd:string) AnnotationAssertion( "NEDMIDF"^^xsd:string) AnnotationAssertion( "NSDVS1"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with microcephaly and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001256"^^xsd:string) AnnotationAssertion(rdfs:label "Nabais Sa-de Vries Syndrome, Type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bent Bone Dysplasia Syndrome 1) AnnotationAssertion( "GARD:10965"^^xsd:string) AnnotationAssertion( "MIM:614592"^^xsd:string) AnnotationAssertion( "MONDO:0013815"^^xsd:string) AnnotationAssertion( "ORDO:313855"^^xsd:string) AnnotationAssertion( "BBDS1"^^xsd:string) AnnotationAssertion( "FGFR2-related bent bone dysplasia"^^xsd:string) AnnotationAssertion( "perinatal lethal bent bone dysplasia"^^xsd:string) AnnotationAssertion( "DISTINCT BENT BONE DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001258"^^xsd:string) AnnotationAssertion(rdfs:label "Bent Bone Dysplasia Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Blepharophimosis with Ptosis, Syndactyly, and Short Stature) AnnotationAssertion( "MIM:210745"^^xsd:string) AnnotationAssertion( "MESH:C536235"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001259"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharophimosis with Ptosis, Syndactyly, and Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CHITAYAT SYNDROME) AnnotationAssertion( "A rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617180"^^xsd:string) AnnotationAssertion( "CHYTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001260"^^xsd:string) AnnotationAssertion(rdfs:label "CHITAYAT SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ileal Diseases) AnnotationAssertion(Annotation( "MESH:D007077"^^xsd:string) "Pathological development in the ILEUM including the ILEOCECAL VALVE."^^xsd:string) AnnotationAssertion( "MESH:D007077"^^xsd:string) AnnotationAssertion( "RDO:0005874"^^xsd:string) AnnotationAssertion( "Ileal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001261"^^xsd:string) AnnotationAssertion(rdfs:label "Ileal Diseases"^^xsd:string) SubClassOf( ) # Class: (Deletion 13q Syndrome, Partial) AnnotationAssertion( "MESH:C535449"^^xsd:string) AnnotationAssertion( "RDO:0000569"^^xsd:string) AnnotationAssertion( "13q- syndrome, partial"^^xsd:string) AnnotationAssertion( "Chromosome 13, partial monosomy 13q"^^xsd:string) AnnotationAssertion( "Monosomy 13q, partial"^^xsd:string) AnnotationAssertion( "Partial monosomy of the long arm of chromosome 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001262"^^xsd:string) AnnotationAssertion(rdfs:label "Deletion 13q Syndrome, Partial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial DNA Depletion Syndrome, MNGIE Type) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-19T13:34:59Z"^^xsd:string) AnnotationAssertion( "MEPOP"^^xsd:string) AnnotationAssertion( "MNGIE"^^xsd:string) AnnotationAssertion( "MNGIE phenotype"^^xsd:string) AnnotationAssertion( "MNGIE syndrome"^^xsd:string) AnnotationAssertion( "POLIP"^^xsd:string) AnnotationAssertion( "POLIP syndrome"^^xsd:string) AnnotationAssertion( "mitochondrial neurogastrointestinal encephalopathy"^^xsd:string) AnnotationAssertion( "myoneurogastrointestinal encephalopathy syndrome"^^xsd:string) AnnotationAssertion( "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001263"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial DNA Depletion Syndrome, MNGIE Type"^^xsd:string) SubClassOf( ) # Class: (Respiratory Aspiration) AnnotationAssertion(Annotation( "MESH:D053120"^^xsd:string) "Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA."^^xsd:string) AnnotationAssertion( "EFO:1001839"^^xsd:string) AnnotationAssertion( "MESH:D053120"^^xsd:string) AnnotationAssertion( "RDO:0007607"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001264"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Aspiration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aneurysm of Interventricular Septum) AnnotationAssertion( "MIM:105805"^^xsd:string) AnnotationAssertion( "MESH:C563239"^^xsd:string) AnnotationAssertion( "MONDO:0007112"^^xsd:string) AnnotationAssertion( "ORDO:99092"^^xsd:string) AnnotationAssertion( "interventricular septum aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001265"^^xsd:string) AnnotationAssertion(rdfs:label "Aneurysm of Interventricular Septum"^^xsd:string) SubClassOf( ) # Class: (Benign Non-Infected Urachal Cyst) AnnotationAssertion( "MESH:C531841"^^xsd:string) AnnotationAssertion( "Giant urachal cyst"^^xsd:string) AnnotationAssertion( "Infected urachal cyst"^^xsd:string) AnnotationAssertion( "Inflamed urachal cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001266"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Non-Infected Urachal Cyst"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 3A, Intermediate) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:10:08Z"^^xsd:string) AnnotationAssertion( "MIM:619785"^^xsd:string) AnnotationAssertion( "JEB3A"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 3A, Generalized Intermediate"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 3A, Non-Herlitz Type"^^xsd:string) AnnotationAssertion( "intermediate junctional epidermolysis bullosa 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001267"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 3A, Intermediate"^^xsd:string) SubClassOf( ) # Class: (Embolism and Thrombosis) AnnotationAssertion(Annotation( "MESH:D016769"^^xsd:string) "A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream."^^xsd:string) AnnotationAssertion( "MESH:D016769"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001268"^^xsd:string) AnnotationAssertion(rdfs:label "Embolism and Thrombosis"^^xsd:string) SubClassOf( ) # Class: (Double Inguinal Hernia) AnnotationAssertion( "MIM:142350"^^xsd:string) AnnotationAssertion( "MESH:C563164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001269"^^xsd:string) AnnotationAssertion(rdfs:label "Double Inguinal Hernia"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet) AnnotationAssertion( "MIM:129540"^^xsd:string) AnnotationAssertion( "MESH:C565067"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001270"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth) AnnotationAssertion( "MIM:243185"^^xsd:string) AnnotationAssertion( "MESH:C538341"^^xsd:string) AnnotationAssertion( "Natal teeth, intestinal pseudoobstruction and patent ductus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001271"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hoyeraal Hreidarsson Syndrome) AnnotationAssertion( "RDO:0001490"^^xsd:string) AnnotationAssertion( "MESH:C536068"^^xsd:string) AnnotationAssertion( "HHS"^^xsd:string) AnnotationAssertion( "cerebellar hypoplasia with pancytopenia"^^xsd:string) AnnotationAssertion( "prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001272"^^xsd:string) AnnotationAssertion(rdfs:label "Hoyeraal Hreidarsson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Efavirenz, Poor Metabolism of) AnnotationAssertion( "RDO:0016153"^^xsd:string) AnnotationAssertion( "MIM:614546"^^xsd:string) AnnotationAssertion( "Efavirenz central nervous system toxicity, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001273"^^xsd:string) AnnotationAssertion(rdfs:label "Efavirenz, Poor Metabolism of"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diabetes Mellitus, Congenital Autoimmune) AnnotationAssertion( "MIM:605026"^^xsd:string) AnnotationAssertion( "MESH:C565730"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001274"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetes Mellitus, Congenital Autoimmune"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 7) AnnotationAssertion( "MIM:612240"^^xsd:string) AnnotationAssertion( "MESH:C567389"^^xsd:string) AnnotationAssertion( "ATFB7"^^xsd:string) AnnotationAssertion( "Atrial fibrillation, familial, 7"^^xsd:string) AnnotationAssertion( "KCNA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ALTERED POTASSIUM CHANNEL FUNCTION"^^xsd:string) AnnotationAssertion( "DOID:9001275"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 7"^^xsd:string) SubClassOf( ) # Class: (Failure to Thrive) AnnotationAssertion(Annotation( "MESH:D005183"^^xsd:string) "A condition of substandard growth or diminished capacity to maintain normal function."^^xsd:string) AnnotationAssertion( "MESH:D005183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001276"^^xsd:string) AnnotationAssertion(rdfs:label "Failure to Thrive"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly) AnnotationAssertion( "MESH:C565563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001277"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hashimoto-Pritzker Syndrome) AnnotationAssertion( "MESH:C535843"^^xsd:string) AnnotationAssertion( "Hashimoto-Pritzker disease"^^xsd:string) AnnotationAssertion( "Hashimoto-Pritzker histiocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001278"^^xsd:string) AnnotationAssertion(rdfs:label "Hashimoto-Pritzker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (47, XYY Syndrome) AnnotationAssertion( "MESH:C535317"^^xsd:string) AnnotationAssertion( "NCI:C85237"^^xsd:string) AnnotationAssertion( "Jacob's syndrome"^^xsd:string) AnnotationAssertion( "XYY syndrome"^^xsd:string) AnnotationAssertion( "YY syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001280"^^xsd:string) AnnotationAssertion(rdfs:label "47, XYY Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Crush Injuries) AnnotationAssertion(Annotation( "MESH:D000071576"^^xsd:string) "Excessive compression of parts of the body that causes muscle swelling, fracture, and/or neurological disturbances in the affected areas. Crush injury with systemic manifestations is referred to as CRUSH SYNDROME."^^xsd:string) AnnotationAssertion( "EFO:0009504"^^xsd:string) AnnotationAssertion( "MESH:D000071576"^^xsd:string) AnnotationAssertion( "RDO:0016109"^^xsd:string) AnnotationAssertion( "Crush Fracture"^^xsd:string) AnnotationAssertion( "Crush Fractures"^^xsd:string) AnnotationAssertion( "Crush Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001281"^^xsd:string) AnnotationAssertion(rdfs:label "Crush Injuries"^^xsd:string) SubClassOf( ) # Class: (Cerebral Cavernous Malformation 4) AnnotationAssertion( "Cerebral cavernous malformations caused by somatic mutation in the PIK3CA gene on chromosome 3q26. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-15T14:16:31Z"^^xsd:string) AnnotationAssertion( "MIM:619538"^^xsd:string) AnnotationAssertion( "CCM4"^^xsd:string) AnnotationAssertion( "cerebral cavernous malformations 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001282"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Cavernous Malformation 4"^^xsd:string) SubClassOf( ) # Class: (RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT) AnnotationAssertion( "MIM:616722"^^xsd:string) AnnotationAssertion( "RDO:9000402"^^xsd:string) AnnotationAssertion( "RDICC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001283"^^xsd:string) AnnotationAssertion(rdfs:label "RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Monkey Diseases) AnnotationAssertion(Annotation( "MESH:D008992"^^xsd:string) "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES)."^^xsd:string) AnnotationAssertion( "MESH:D008992"^^xsd:string) AnnotationAssertion( "Monkey Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001284"^^xsd:string) AnnotationAssertion(rdfs:label "Monkey Diseases"^^xsd:string) SubClassOf( ) # Class: (Alcoholic Liver Diseases) AnnotationAssertion(Annotation( "MESH:D008108"^^xsd:string) "Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS."^^xsd:string) AnnotationAssertion( "EFO:0008573"^^xsd:string) AnnotationAssertion( "MESH:D008108"^^xsd:string) AnnotationAssertion( "alcoholic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001285"^^xsd:string) AnnotationAssertion(rdfs:label "Alcoholic Liver Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Contractures, Torticollis, and Malignant Hyperthermia) AnnotationAssertion( "MIM:217150"^^xsd:string) AnnotationAssertion( "MESH:C565679"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001286"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Contractures, Torticollis, and Malignant Hyperthermia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome Type 4) AnnotationAssertion( "EDS IV"^^xsd:string) AnnotationAssertion( "EDS4"^^xsd:string) AnnotationAssertion( "Ehlers Danlos Syndrome, Type IV"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome, Type 4 Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001287"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome Type 4"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:619503"^^xsd:string) "This disease is characterized by global developmental delay and hypotonia apparent from birth."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T13:24:55Z"^^xsd:string) AnnotationAssertion( "DOID:9000697"^^xsd:string) AnnotationAssertion( "GNB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619503"^^xsd:string) AnnotationAssertion( "NEDHYDF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001288"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trehalase Deficiency) AnnotationAssertion( "MIM:612119"^^xsd:string) AnnotationAssertion( "MESH:C562603"^^xsd:string) AnnotationAssertion( "RDO:0012247"^^xsd:string) AnnotationAssertion( "ALPHA, ALPHA-TREHALASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "Trehalose Intolerance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001289"^^xsd:string) AnnotationAssertion(rdfs:label "Trehalase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prolactin Deficiency with Obesity and Enlarged Testes) AnnotationAssertion( "MIM:264120"^^xsd:string) AnnotationAssertion( "MESH:C564870"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001290"^^xsd:string) AnnotationAssertion(rdfs:label "Prolactin Deficiency with Obesity and Enlarged Testes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cranial Epidural Hematoma) AnnotationAssertion(Annotation( "MESH:D006407"^^xsd:string) "Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include HEADACHE; VOMITING; HEMIPARESIS; and impaired mental function."^^xsd:string) AnnotationAssertion( "MESH:D006407"^^xsd:string) AnnotationAssertion( "Cranial Epidural Hematomas"^^xsd:string) AnnotationAssertion( "Cranial Epidural Hemorrhage"^^xsd:string) AnnotationAssertion( "Cranial Epidural Hemorrhages"^^xsd:string) AnnotationAssertion( "Cranial Extradural Hematoma"^^xsd:string) AnnotationAssertion( "Cranial Extradural Hematomas"^^xsd:string) AnnotationAssertion( "Cranial Extradural Hemorrhage"^^xsd:string) AnnotationAssertion( "Cranial Extradural Hemorrhages"^^xsd:string) AnnotationAssertion( "Intracranial Epidural Hematoma"^^xsd:string) AnnotationAssertion( "Intracranial Epidural Hematomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001291"^^xsd:string) AnnotationAssertion(rdfs:label "Cranial Epidural Hematoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Odontohypophosphatasia) AnnotationAssertion( "MESH:C564146"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "low alkaline phosphatase"^^xsd:string) AnnotationAssertion( "DOID:9001292"^^xsd:string) AnnotationAssertion(rdfs:label "Odontohypophosphatasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620073"^^xsd:string) "This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-13T12:11:58Z"^^xsd:string) AnnotationAssertion( "MIM:620073"^^xsd:string) AnnotationAssertion( "NEDDFSB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001294"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Achlorhydria) AnnotationAssertion(Annotation( "MESH:D000126"^^xsd:string) "A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion."^^xsd:string) AnnotationAssertion( "MESH:D000126"^^xsd:string) AnnotationAssertion( "Achylia Gastrica"^^xsd:string) AnnotationAssertion( "Hypochlorhydria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001295"^^xsd:string) AnnotationAssertion(rdfs:label "Achlorhydria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ear Neoplasms) AnnotationAssertion(Annotation( "MESH:D004428"^^xsd:string) "Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR)."^^xsd:string) AnnotationAssertion( "RDO:0005423"^^xsd:string) AnnotationAssertion( "MESH:D004428"^^xsd:string) AnnotationAssertion( "Auricular Neoplasms"^^xsd:string) AnnotationAssertion( "Cancer of Ear"^^xsd:string) AnnotationAssertion( "Cancer of Ear Auricle"^^xsd:string) AnnotationAssertion( "Cancer of the Ear"^^xsd:string) AnnotationAssertion( "Ear Auricle Cancer"^^xsd:string) AnnotationAssertion( "Ear Auricle Cancers"^^xsd:string) AnnotationAssertion( "Ear Auricle Neoplasm"^^xsd:string) AnnotationAssertion( "Ear Auricle Neoplasms"^^xsd:string) AnnotationAssertion( "Ear Cancer"^^xsd:string) AnnotationAssertion( "Ear Neoplasm"^^xsd:string) AnnotationAssertion( "Neoplasms of Ear Auricle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001296"^^xsd:string) AnnotationAssertion(rdfs:label "Ear Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal) AnnotationAssertion( "MESH:C567597"^^xsd:string) AnnotationAssertion( "Xx Male Syndrome, Sry-Negative"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001297"^^xsd:string) AnnotationAssertion(rdfs:label "46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal"^^xsd:string) SubClassOf( ) # Class: (pneumococcal bacteremia) AnnotationAssertion(Annotation( "EFO:1001925"^^xsd:string) "This disease is caused by the presence of pneumococcus bacteria in the blood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-06T13:41:27Z"^^xsd:string) AnnotationAssertion( "EFO:1001925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001298"^^xsd:string) AnnotationAssertion(rdfs:label "pneumococcal bacteremia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retained Placenta) AnnotationAssertion(Annotation( "MESH:D018457"^^xsd:string) "A placenta that fails to be expelled after BIRTH of the FETUS. A PLACENTA is retained when the UTERUS fails to contract after the delivery of its content, or when the placenta is abnormally attached to the MYOMETRIUM."^^xsd:string) AnnotationAssertion( "MESH:D018457"^^xsd:string) AnnotationAssertion( "Retained Placentas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001299"^^xsd:string) AnnotationAssertion(rdfs:label "Retained Placenta"^^xsd:string) SubClassOf( ) # Class: (Alternating Hemiplegia of Childhood 2) AnnotationAssertion( "Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi- or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment. Alternating hemiplegia of childhood-2 (AHC2) is caused by heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614820"^^xsd:string) AnnotationAssertion( "AHC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001300"^^xsd:string) AnnotationAssertion(rdfs:label "Alternating Hemiplegia of Childhood 2"^^xsd:string) SubClassOf( ) # Class: (Ketoadipicaciduria) AnnotationAssertion( "MESH:C565453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001301"^^xsd:string) AnnotationAssertion(rdfs:label "Ketoadipicaciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myokymia 1) AnnotationAssertion( "MESH:C567174"^^xsd:string) AnnotationAssertion( "RDO:0015321"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001302"^^xsd:string) AnnotationAssertion(rdfs:label "Myokymia 1"^^xsd:string) SubClassOf( ) # Class: (Hydroa Vacciniforme, Familial) AnnotationAssertion( "MIM:603794"^^xsd:string) AnnotationAssertion( "MESH:C536077"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001303"^^xsd:string) AnnotationAssertion(rdfs:label "Hydroa Vacciniforme, Familial"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 85) AnnotationAssertion( "An autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Caused by heterozygous mutation in the TOM1 gene on chromosome 22q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-03T12:03:10Z"^^xsd:string) AnnotationAssertion( "MIM:619510"^^xsd:string) AnnotationAssertion( "IMD85"^^xsd:string) AnnotationAssertion( "immunodeficiency 85 and autoimmunity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001304"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 85"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neuroblastoma 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-11T11:29:38Z"^^xsd:string) AnnotationAssertion( "MIM:613013"^^xsd:string) AnnotationAssertion( "NBLST2"^^xsd:string) AnnotationAssertion( "neuroblastoma with Hirschsprung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "neuroblastoma, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:9001305"^^xsd:string) AnnotationAssertion(rdfs:label "Neuroblastoma 2"^^xsd:string) SubClassOf( ) # Class: (Gillessen-Kaesbach-Nishimura Dysplasia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:263210"^^xsd:string) AnnotationAssertion( "RDO:0013697"^^xsd:string) AnnotationAssertion( "RDO:9000745"^^xsd:string) AnnotationAssertion( "MESH:C564881"^^xsd:string) AnnotationAssertion( "GIKANIS"^^xsd:string) AnnotationAssertion( "Gillessen-Kaesbach-Nishimura skeletal dysplasia"^^xsd:string) AnnotationAssertion( "Gillessen-Kaesbach-Nishimura syndrome"^^xsd:string) AnnotationAssertion( "autosomal recessive polycystic kidney disease, with microbrachycephaly, hypertelorism, and brachymelia"^^xsd:string) AnnotationAssertion( "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001306"^^xsd:string) AnnotationAssertion(rdfs:label "Gillessen-Kaesbach-Nishimura Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Karandikar Maria Kamble Syndrome) AnnotationAssertion( "MESH:C537009"^^xsd:string) AnnotationAssertion( "Cataract mental retardation anal atresia urinary defects"^^xsd:string) AnnotationAssertion( "Congenital cataract with multiple congenital anomalies in a sibship"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001307"^^xsd:string) AnnotationAssertion(rdfs:label "Karandikar Maria Kamble Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wittwer Syndrome) AnnotationAssertion( "MESH:C536737"^^xsd:string) AnnotationAssertion( "MESH:C536760"^^xsd:string) AnnotationAssertion( "X-Linked Mental Retardation Type Wittwer"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndrome, Wittwer type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001308"^^xsd:string) AnnotationAssertion(rdfs:label "Wittwer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ichthyosis Prematurity Syndrome) AnnotationAssertion( "MIM:608649"^^xsd:string) AnnotationAssertion( "OMIA:001973"^^xsd:string) AnnotationAssertion( "MESH:C536271"^^xsd:string) AnnotationAssertion( "RDO:0001786"^^xsd:string) AnnotationAssertion( "IPS"^^xsd:string) AnnotationAssertion( "Ichthyosis congenita IV"^^xsd:string) AnnotationAssertion( "Ichthyosis, SLC27A4-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001309"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Prematurity Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tobacco Use Disorder) AnnotationAssertion(Annotation( "MESH:D014029"^^xsd:string) "Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included."^^xsd:string) AnnotationAssertion( "MESH:D014029"^^xsd:string) AnnotationAssertion( "Nicotine Use Disorder"^^xsd:string) AnnotationAssertion( "Nicotine Use Disorders"^^xsd:string) AnnotationAssertion( "Tobacco Dependence"^^xsd:string) AnnotationAssertion( "Tobacco Dependences"^^xsd:string) AnnotationAssertion( "Tobacco Use Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001310"^^xsd:string) AnnotationAssertion(rdfs:label "Tobacco Use Disorder"^^xsd:string) SubClassOf( ) # Class: (Lichen Planus Follicularis) AnnotationAssertion( "EFO:0009856"^^xsd:string) AnnotationAssertion( "MESH:C535892"^^xsd:string) AnnotationAssertion( "RDO:0001255"^^xsd:string) AnnotationAssertion( "Follicular lichen planus tumidus"^^xsd:string) AnnotationAssertion( "Lichen planus follicularis tumidus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001311"^^xsd:string) AnnotationAssertion(rdfs:label "Lichen Planus Follicularis"^^xsd:string) SubClassOf( ) # Class: (Tardive Dyskinesia) AnnotationAssertion(Annotation( "MESH:D000071057"^^xsd:string) "Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE)."^^xsd:string) AnnotationAssertion( "MIM:272620"^^xsd:string) AnnotationAssertion( "MESH:D000071057"^^xsd:string) AnnotationAssertion( "Tardive Dyskinesias"^^xsd:string) AnnotationAssertion( "Tardive Dystonia"^^xsd:string) AnnotationAssertion( "Tardive Dystonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001312"^^xsd:string) AnnotationAssertion(rdfs:label "Tardive Dyskinesia"^^xsd:string) SubClassOf( ) # Class: (Gm2-Gangliosidosis, Adult Chronic Type) AnnotationAssertion( "MESH:C564784"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Gm2-Gangliosidosis, Adult"^^xsd:string) AnnotationAssertion( "Gm2-Gangliosidosis, Adult-Onset"^^xsd:string) AnnotationAssertion( "DOID:9001313"^^xsd:string) AnnotationAssertion(rdfs:label "Gm2-Gangliosidosis, Adult Chronic Type"^^xsd:string) SubClassOf( ) # Class: (Systemic Lupus Erythematosus 17) AnnotationAssertion(Annotation( "MIM:301080"^^xsd:string) "An X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Caused by heterozygous mutation in the TLR7 gene on chromosome Xp22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-11T16:39:54Z"^^xsd:string) AnnotationAssertion( "MIM:301080"^^xsd:string) AnnotationAssertion( "SLEB17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001314"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Lupus Erythematosus 17"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY) AnnotationAssertion(Annotation( "MIM:619616"^^xsd:string) "This disease is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-10T17:53:34Z"^^xsd:string) AnnotationAssertion( "SPATA5L1-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619616"^^xsd:string) AnnotationAssertion( "NEDHLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001315"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bernard-Soulier Syndrome, Type C) AnnotationAssertion( "MESH:C565550"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001316"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier Syndrome, Type C"^^xsd:string) SubClassOf( ) # Class: (Hydroa Vacciniforme) AnnotationAssertion(Annotation( "MESH:D006837"^^xsd:string) "A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006837"^^xsd:string) AnnotationAssertion( "RDO:0001503"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001317"^^xsd:string) AnnotationAssertion(rdfs:label "Hydroa Vacciniforme"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nasal Alar Collapse, Bilateral) AnnotationAssertion( "MIM:161470"^^xsd:string) AnnotationAssertion( "MESH:C563533"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001318"^^xsd:string) AnnotationAssertion(rdfs:label "Nasal Alar Collapse, Bilateral"^^xsd:string) SubClassOf( ) # Class: (Branchial Arch Syndrome X-Linked) AnnotationAssertion( "MIM:301950"^^xsd:string) AnnotationAssertion( "MESH:C537102"^^xsd:string) AnnotationAssertion( "Mandibulofacial Dysostosis, Toriello Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001319"^^xsd:string) AnnotationAssertion(rdfs:label "Branchial Arch Syndrome X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 7) AnnotationAssertion( "MIM:613271"^^xsd:string) AnnotationAssertion( "MESH:C567674"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET"^^xsd:string) AnnotationAssertion( "FCD4 LOCUS"^^xsd:string) AnnotationAssertion( "FECD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001320"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 7"^^xsd:string) SubClassOf( ) # Class: (Der Kaloustian Mcintosh Silver Syndrome) AnnotationAssertion( "MESH:C538217"^^xsd:string) AnnotationAssertion( "RDO:0004164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001321"^^xsd:string) AnnotationAssertion(rdfs:label "Der Kaloustian Mcintosh Silver Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sclerocornea, Autosomal Dominant) AnnotationAssertion( "MIM:181700"^^xsd:string) AnnotationAssertion( "RDO:0014977"^^xsd:string) AnnotationAssertion( "MESH:C566692"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001322"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerocornea, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Arrhenoblastoma--Thyroid Adenoma) AnnotationAssertion( "MESH:C566256"^^xsd:string) AnnotationAssertion( "RDO:0011978"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001323"^^xsd:string) AnnotationAssertion(rdfs:label "Arrhenoblastoma--Thyroid Adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Powell Venencie Gordon syndrome) AnnotationAssertion( "MESH:C538358"^^xsd:string) AnnotationAssertion( "Keratoderma and spastic paralysis"^^xsd:string) AnnotationAssertion( "Punctate keratoderma and spastic paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001324"^^xsd:string) AnnotationAssertion(rdfs:label "Powell Venencie Gordon syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rett Syndrome, Atypical) AnnotationAssertion( "MESH:C567576"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001325"^^xsd:string) AnnotationAssertion(rdfs:label "Rett Syndrome, Atypical"^^xsd:string) SubClassOf( ) # Class: (Nevus, Epithelioid and Spindle Cell) AnnotationAssertion(Annotation( "MESH:D018332"^^xsd:string) "A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000925"^^xsd:string) AnnotationAssertion( "MESH:D018332"^^xsd:string) AnnotationAssertion( "Spitz Nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001326"^^xsd:string) AnnotationAssertion(rdfs:label "Nevus, Epithelioid and Spindle Cell"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 70) AnnotationAssertion(Annotation( "MIM:619828"^^xsd:string) "Characterized by male infertility due to azoospermia or sperm immotility and necrozoospermia. Caused by homozygous mutation in the PDHA2 gene on chromosome 4q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T11:44:26Z"^^xsd:string) AnnotationAssertion( "MIM:619828"^^xsd:string) AnnotationAssertion( "SPGF70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001327"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 70"^^xsd:string) SubClassOf( ) # Class: (Familial Gigantiform Cementoma) AnnotationAssertion( "MIM:137575"^^xsd:string) AnnotationAssertion( "MESH:C563017"^^xsd:string) AnnotationAssertion( "familial multiple cementomas"^^xsd:string) AnnotationAssertion( "periapical cemental dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001328"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Gigantiform Cementoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tumor Predisposition Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-08T10:59:09Z"^^xsd:string) AnnotationAssertion( "TPDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001329"^^xsd:string) AnnotationAssertion(rdfs:label "Tumor Predisposition Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Urinary Incontinence, Stress) AnnotationAssertion(Annotation( "MESH:D014550"^^xsd:string) "Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency."^^xsd:string) AnnotationAssertion( "MESH:D014550"^^xsd:string) AnnotationAssertion( "RDO:0006792"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001330"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Incontinence, Stress"^^xsd:string) SubClassOf( ) # Class: (Skull Neoplasms) AnnotationAssertion( "Neoplasms of the bony part of the skull."^^xsd:string) AnnotationAssertion( "MESH:D012888"^^xsd:string) AnnotationAssertion( "Skull Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001331"^^xsd:string) AnnotationAssertion(rdfs:label "Skull Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Earache) AnnotationAssertion(Annotation( "MESH:D004433"^^xsd:string) "Pain in the ear."^^xsd:string) AnnotationAssertion( "MESH:D004433"^^xsd:string) AnnotationAssertion( "Earaches"^^xsd:string) AnnotationAssertion( "Otalgia"^^xsd:string) AnnotationAssertion( "Otalgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001332"^^xsd:string) AnnotationAssertion(rdfs:label "Earache"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypokalemic Periodic Paralysis, Type 2) AnnotationAssertion( "MIM:613345"^^xsd:string) AnnotationAssertion( "MESH:C567635"^^xsd:string) AnnotationAssertion( "HOKPP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001333"^^xsd:string) AnnotationAssertion(rdfs:label "Hypokalemic Periodic Paralysis, Type 2"^^xsd:string) SubClassOf( ) # Class: (Huntington's Disease-Like 3) AnnotationAssertion( "MIM:604802"^^xsd:string) AnnotationAssertion( "MESH:C565747"^^xsd:string) AnnotationAssertion( "RDO:0014303"^^xsd:string) AnnotationAssertion( "HDL3"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like 3"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001334"^^xsd:string) AnnotationAssertion(rdfs:label "Huntington's Disease-Like 3"^^xsd:string) SubClassOf( ) # Class: (Chromosome 17, Trisomy 17p) AnnotationAssertion( "MESH:C538048"^^xsd:string) AnnotationAssertion( "Duplication 17p"^^xsd:string) AnnotationAssertion( "Trisomy 17p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001335"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17, Trisomy 17p"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Childhood-Onset Spasticity with Hyperglycinemia) AnnotationAssertion( "An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616859"^^xsd:string) AnnotationAssertion( "SPAHGC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001337"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-Onset Spasticity with Hyperglycinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vulvodynia) AnnotationAssertion(Annotation( "MESH:D056650"^^xsd:string) "Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities."^^xsd:string) AnnotationAssertion( "MESH:D056650"^^xsd:string) AnnotationAssertion( "Generalized Vulvodynia"^^xsd:string) AnnotationAssertion( "Vestibulodynia"^^xsd:string) AnnotationAssertion( "Vestibulodynias"^^xsd:string) AnnotationAssertion( "generalized vulvodynias"^^xsd:string) AnnotationAssertion( "vulvodynias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001338"^^xsd:string) AnnotationAssertion(rdfs:label "Vulvodynia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mesomelia-Synostoses Syndrome) AnnotationAssertion( "MIM:600383"^^xsd:string) AnnotationAssertion( "MESH:C537348"^^xsd:string) AnnotationAssertion( "RDO:0003178"^^xsd:string) AnnotationAssertion( "CHROMOSOME 8q13 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE"^^xsd:string) AnnotationAssertion( "MESOMELIC DYSPLASIA, SYNDROMIC"^^xsd:string) AnnotationAssertion( "Mesomelia synostoses"^^xsd:string) AnnotationAssertion( "Verloes-David syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001340"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelia-Synostoses Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chloracne) AnnotationAssertion(Annotation( "MESH:D054506"^^xsd:string) "ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants."^^xsd:string) AnnotationAssertion( "EFO:1001777"^^xsd:string) AnnotationAssertion( "MESH:D054506"^^xsd:string) AnnotationAssertion( "Chloracnes"^^xsd:string) AnnotationAssertion( "Chlorine Acne"^^xsd:string) AnnotationAssertion( "Chlorine Acnes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001341"^^xsd:string) AnnotationAssertion(rdfs:label "Chloracne"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Hypotonia with Psychomotor Retardation) AnnotationAssertion( "MIM:616816"^^xsd:string) AnnotationAssertion( "IHPMR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001343"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypotonia with Psychomotor Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pigmented Purpuric Eruption) AnnotationAssertion( "MIM:172900"^^xsd:string) AnnotationAssertion( "MESH:C537186"^^xsd:string) AnnotationAssertion( "Familial Schamberg's disease"^^xsd:string) AnnotationAssertion( "Familial pigmented purpuric eruption"^^xsd:string) AnnotationAssertion( "Schamberg purpura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001344"^^xsd:string) AnnotationAssertion(rdfs:label "Pigmented Purpuric Eruption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Okur-Chung Neurodevelopmental Syndrome) AnnotationAssertion( "An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617062"^^xsd:string) AnnotationAssertion( "CSNK2A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OCNDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CSNK2A1- RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "DOID:9001345"^^xsd:string) AnnotationAssertion(rdfs:label "Okur-Chung Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis) AnnotationAssertion( "MIM:615704"^^xsd:string) AnnotationAssertion( "POIKTMP"^^xsd:string) AnnotationAssertion( "Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001346"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leg Ulcer) AnnotationAssertion(Annotation( "MESH:D007871"^^xsd:string) "Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes."^^xsd:string) AnnotationAssertion( "MESH:D007871"^^xsd:string) AnnotationAssertion( "Leg Ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001347"^^xsd:string) AnnotationAssertion(rdfs:label "Leg Ulcer"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Stomatognathic Diseases) AnnotationAssertion(Annotation( "MESH:D009057"^^xsd:string) "General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx."^^xsd:string) AnnotationAssertion( "MESH:D009057"^^xsd:string) AnnotationAssertion( "Dental Disease"^^xsd:string) AnnotationAssertion( "Mouth and Tooth Diseases"^^xsd:string) AnnotationAssertion( "dental diseases"^^xsd:string) AnnotationAssertion( "stomatognathic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001349"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Stomatognathic Diseases"^^xsd:string) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 1) AnnotationAssertion( "MIM:225750"^^xsd:string) AnnotationAssertion( "NCI:C165501"^^xsd:string) AnnotationAssertion( "AGS1"^^xsd:string) AnnotationAssertion( "Aicardi-Goutieres Syndrome 1, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001350"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Rubella Syndrome, Congenital) AnnotationAssertion(Annotation( "MESH:D012410"^^xsd:string) "Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:0007218"^^xsd:string) AnnotationAssertion( "MESH:D012410"^^xsd:string) AnnotationAssertion( "RDO:0006512"^^xsd:string) AnnotationAssertion( "Congenital Rubella Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001351"^^xsd:string) AnnotationAssertion(rdfs:label "Rubella Syndrome, Congenital"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Periodontal Pocket) AnnotationAssertion(Annotation( "MESH:D010514"^^xsd:string) "An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption."^^xsd:string) AnnotationAssertion( "EFO:1001393"^^xsd:string) AnnotationAssertion( "MESH:D010514"^^xsd:string) AnnotationAssertion( "Periodontal Pockets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001352"^^xsd:string) AnnotationAssertion(rdfs:label "Periodontal Pocket"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 11) AnnotationAssertion( "MESH:C566634"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001353"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 11"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY) AnnotationAssertion(Annotation( "MIM:619090"^^xsd:string) "A complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-02-12T11:17:36Z"^^xsd:string) AnnotationAssertion( "MORC2-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619090"^^xsd:string) AnnotationAssertion( "DIGFAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001354"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome) AnnotationAssertion( "RDO:0013944"^^xsd:string) AnnotationAssertion( "MESH:C565249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001355"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay) AnnotationAssertion( "MIM:601347"^^xsd:string) AnnotationAssertion( "MESH:C563345"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001356"^^xsd:string) AnnotationAssertion(rdfs:label "Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Rotator Cuff Tear Arthropathy) AnnotationAssertion(Annotation( "MESH:D000070656"^^xsd:string) "Rapidly destructive shoulder joint and bone disease found mainly in elderly, and predominantly in women. It is characterized by SHOULDER PAIN; JOINT INSTABILITY; and the presence of crystalline CALCIUM PHOSPHATES in the SYNOVIAL FLUID. It is associated with ROTATOR CUFF INJURIES."^^xsd:string) AnnotationAssertion( "MESH:D000070656"^^xsd:string) AnnotationAssertion( "Cuff Tear Arthropathy"^^xsd:string) AnnotationAssertion( "Milwaukee Shoulder"^^xsd:string) AnnotationAssertion( "Milwaukee Shoulder Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001358"^^xsd:string) AnnotationAssertion(rdfs:label "Rotator Cuff Tear Arthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal) AnnotationAssertion( "MIM:610644"^^xsd:string) AnnotationAssertion( "RDO:0009447"^^xsd:string) AnnotationAssertion( "RDO:0014259"^^xsd:string) AnnotationAssertion( "MESH:C565693"^^xsd:string) AnnotationAssertion( "PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL"^^xsd:string) AnnotationAssertion( "PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001360"^^xsd:string) AnnotationAssertion(rdfs:label "Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Fistula) AnnotationAssertion(Annotation( "MESH:D010185"^^xsd:string) "Abnormal passage communicating with the PANCREAS."^^xsd:string) AnnotationAssertion( "MESH:D010185"^^xsd:string) AnnotationAssertion( "Pancreatic Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001361"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malignant Teratocarcinosarcoma) AnnotationAssertion( "MESH:C535701"^^xsd:string) AnnotationAssertion( "RDO:0000962"^^xsd:string) AnnotationAssertion( "Paranasal sinus teratocarcinosarcoma"^^xsd:string) AnnotationAssertion( "Paranasal sinus teratocarcinosarcoma (type)"^^xsd:string) AnnotationAssertion( "Sinonasal teratocarcinosarcoma"^^xsd:string) AnnotationAssertion( "Sinonasal teratocarcinosarcoma (type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001362"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Teratocarcinosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heavy Metal Poisoning, Nervous System) AnnotationAssertion(Annotation( "MESH:D020260"^^xsd:string) "Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries."^^xsd:string) AnnotationAssertion( "EFO:1001815"^^xsd:string) AnnotationAssertion( "MESH:D020260"^^xsd:string) AnnotationAssertion( "RDO:0007319"^^xsd:string) AnnotationAssertion( "Poisoning, Heavy Metals, Nervous System"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001363"^^xsd:string) AnnotationAssertion(rdfs:label "Heavy Metal Poisoning, Nervous System"^^xsd:string) SubClassOf( ) # Class: (Aortic Arch Syndromes) AnnotationAssertion(Annotation( "MESH:D001015"^^xsd:string) "Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots."^^xsd:string) AnnotationAssertion( "MESH:D001015"^^xsd:string) AnnotationAssertion( "Aortic Arch Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001364"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Arch Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amebic Liver Abscess) AnnotationAssertion(Annotation( "MESH:D008101"^^xsd:string) "Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA."^^xsd:string) AnnotationAssertion( "MESH:D008101"^^xsd:string) AnnotationAssertion( "Abscess, Amebic, Hepatic"^^xsd:string) AnnotationAssertion( "Amoebic Hepatic Abscess"^^xsd:string) AnnotationAssertion( "Amoebic Hepatic Abscesses"^^xsd:string) AnnotationAssertion( "Amoebic Liver Abscess"^^xsd:string) AnnotationAssertion( "Amoebic Liver Abscesses"^^xsd:string) AnnotationAssertion( "Hepatic Amebiasis"^^xsd:string) AnnotationAssertion( "Hepatic Amoebiasis"^^xsd:string) AnnotationAssertion( "Hepatic Entamoebiases"^^xsd:string) AnnotationAssertion( "amebic liver abscesses"^^xsd:string) AnnotationAssertion( "hepatic entamoebiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001365"^^xsd:string) AnnotationAssertion(rdfs:label "Amebic Liver Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Psychomotor Agitation) AnnotationAssertion(Annotation( "MESH:D011595"^^xsd:string) "A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions."^^xsd:string) AnnotationAssertion( "MESH:D011595"^^xsd:string) AnnotationAssertion( "Akathisia"^^xsd:string) AnnotationAssertion( "Psychomotor Excitement"^^xsd:string) AnnotationAssertion( "Psychomotor Hyperactivity"^^xsd:string) AnnotationAssertion( "Psychomotor Restlessness"^^xsd:string) AnnotationAssertion( "Restlessness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001366"^^xsd:string) AnnotationAssertion(rdfs:label "Psychomotor Agitation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-22T15:38:52Z"^^xsd:string) AnnotationAssertion( "EFO:0010657"^^xsd:string) AnnotationAssertion( "MIM:618707"^^xsd:string) AnnotationAssertion( "ITO-RAYMOND SYNDROME"^^xsd:string) AnnotationAssertion( "NEDALVS"^^xsd:string) AnnotationAssertion( "WASF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WASF1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001367"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Uncombable Hair Syndrome 2) AnnotationAssertion( "A condition characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617251"^^xsd:string) AnnotationAssertion( "UHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001368"^^xsd:string) AnnotationAssertion(rdfs:label "Uncombable Hair Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Multiple Epiphyseal Dysplasia with Robin Phenotype) AnnotationAssertion( "MIM:601560"^^xsd:string) AnnotationAssertion( "MESH:C563291"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001369"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Epiphyseal Dysplasia with Robin Phenotype"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Eosinophilia) AnnotationAssertion(Annotation( "MESH:D004802"^^xsd:string) "Abnormal increase of EOSINOPHILS in the blood, tissues or organs."^^xsd:string) AnnotationAssertion( "MESH:D004802"^^xsd:string) AnnotationAssertion( "Eosinophilias"^^xsd:string) AnnotationAssertion( "Tropical Eosinophilia"^^xsd:string) AnnotationAssertion( "Tropical Eosinophilias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001371"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilia"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 114) AnnotationAssertion(Annotation( "MIM:620603"^^xsd:string) "An autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Caused by homozygous mutation in the SLC19A1 gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:21:27Z"^^xsd:string) AnnotationAssertion( "MIM:620603"^^xsd:string) AnnotationAssertion( "IMD114"^^xsd:string) AnnotationAssertion( "Immunodeficiency 114, folate-responsive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001372"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 114"^^xsd:string) SubClassOf( ) # Class: (Sonoda Syndrome) AnnotationAssertion( "MIM:270460"^^xsd:string) AnnotationAssertion( "GARD:4905"^^xsd:string) AnnotationAssertion( "MESH:C536680"^^xsd:string) AnnotationAssertion( "MONDO:0010039"^^xsd:string) AnnotationAssertion( "ORDO:1355"^^xsd:string) AnnotationAssertion( "ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT"^^xsd:string) AnnotationAssertion( "congenital heart defect with round face and developmental delay syndrome"^^xsd:string) AnnotationAssertion( "congenital heart defect-round face-developmental delay syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001373"^^xsd:string) AnnotationAssertion(rdfs:label "Sonoda Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primate Diseases) AnnotationAssertion(Annotation( "MESH:D018419"^^xsd:string) "Diseases of animals within the order PRIMATES. This term includes diseases of Haplorhini and Strepsirhini."^^xsd:string) AnnotationAssertion( "MESH:D018419"^^xsd:string) AnnotationAssertion( "Primate Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001374"^^xsd:string) AnnotationAssertion(rdfs:label "Primate Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Papillary Cystadenoma) AnnotationAssertion(Annotation( "MESH:D018292"^^xsd:string) "A benign neoplasm of the ovary."^^xsd:string) AnnotationAssertion( "MESH:D018292"^^xsd:string) AnnotationAssertion( "Papillary Cystadenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001376"^^xsd:string) AnnotationAssertion(rdfs:label "Papillary Cystadenoma"^^xsd:string) SubClassOf( ) # Class: (Bridged Sella Turcica) AnnotationAssertion( "MIM:182200"^^xsd:string) AnnotationAssertion( "MESH:C566689"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001377"^^xsd:string) AnnotationAssertion(rdfs:label "Bridged Sella Turcica"^^xsd:string) SubClassOf( ) # Class: (Nuclear Type Mitochondrial Complex I Deficiency 36) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-01T18:23:04Z"^^xsd:string) AnnotationAssertion( "MIM:619170"^^xsd:string) AnnotationAssertion( "MC1DN36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001378"^^xsd:string) AnnotationAssertion(rdfs:label "Nuclear Type Mitochondrial Complex I Deficiency 36"^^xsd:string) SubClassOf( ) # Class: (Lissencephaly and Agenesis of Corpus Callosum) AnnotationAssertion( "MESH:C531731"^^xsd:string) AnnotationAssertion( "RDO:0000150"^^xsd:string) AnnotationAssertion( "Subcortical laminar heterotopia, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001379"^^xsd:string) AnnotationAssertion(rdfs:label "Lissencephaly and Agenesis of Corpus Callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Absent Eyebrows and Eyelashes with Mental Retardation) AnnotationAssertion( "MIM:200130"^^xsd:string) AnnotationAssertion( "MESH:C563111"^^xsd:string) AnnotationAssertion( "Pseudoprogeria Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001380"^^xsd:string) AnnotationAssertion(rdfs:label "Absent Eyebrows and Eyelashes with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Combined Congenital Deficiency of Intrinsic Factor and R Binder) AnnotationAssertion( "MIM:243320"^^xsd:string) AnnotationAssertion( "MESH:C565461"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001382"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Congenital Deficiency of Intrinsic Factor and R Binder"^^xsd:string) SubClassOf( ) # Class: (Atelosteogenesis Type 1) AnnotationAssertion( "MIM:108720"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "MESH:C535396"^^xsd:string) AnnotationAssertion( "AO1"^^xsd:string) AnnotationAssertion( "AOI"^^xsd:string) AnnotationAssertion( "atelosteogenesis type I"^^xsd:string) AnnotationAssertion( "giant cell chondrodysplasia"^^xsd:string) AnnotationAssertion( "spondylohumerofemoral hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001383"^^xsd:string) AnnotationAssertion(rdfs:label "Atelosteogenesis Type 1"^^xsd:string) SubClassOf( ) # Class: (Kaposiform Hemangioendothelioma) AnnotationAssertion( "MESH:C537007"^^xsd:string) AnnotationAssertion( "Congenital cutaneous multifocal kaposiform hemangioendothelioma"^^xsd:string) AnnotationAssertion( "Kaposiform hemangio-endothelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001384"^^xsd:string) AnnotationAssertion(rdfs:label "Kaposiform Hemangioendothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Complement Factor D Deficiency) AnnotationAssertion( "MIM:613912"^^xsd:string) AnnotationAssertion( "MESH:C565027"^^xsd:string) AnnotationAssertion( "CFD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CFDD"^^xsd:string) AnnotationAssertion( "Factor D Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001385"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Factor D Deficiency"^^xsd:string) SubClassOf( ) # Class: (Albinism) AnnotationAssertion(Annotation( "MESH:D000417"^^xsd:string) "General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair."^^xsd:string) AnnotationAssertion( "MESH:D000417"^^xsd:string) AnnotationAssertion( "NCI:C84543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001386"^^xsd:string) AnnotationAssertion(rdfs:label "Albinism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhabditida Infections) AnnotationAssertion(Annotation( "MESH:D017196"^^xsd:string) "Infections with nematodes of the order RHABDITIDA."^^xsd:string) AnnotationAssertion( "EFO:0007468"^^xsd:string) AnnotationAssertion( "MESH:D017196"^^xsd:string) AnnotationAssertion( "Rhabditida Infection"^^xsd:string) AnnotationAssertion( "Rhabditida infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001387"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabditida Infections"^^xsd:string) SubClassOf( ) # Class: (CHROMOSOME 2p16.3 DELETION SYNDROME) AnnotationAssertion( "MIM:614332"^^xsd:string) AnnotationAssertion( "RDO:9001543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001388"^^xsd:string) AnnotationAssertion(rdfs:label "CHROMOSOME 2p16.3 DELETION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Testis Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the testes, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "Testicular Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Testicular Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Testis Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001390"^^xsd:string) AnnotationAssertion(rdfs:label "Testis Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bryant-Li-Bhoj Neurodevelopmental Syndrome 1) AnnotationAssertion(Annotation( "MIM:619720"^^xsd:string) "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3A gene on chromosome 1q42."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-10T13:41:56Z"^^xsd:string) AnnotationAssertion( "H3-3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "H3F3A-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:619720"^^xsd:string) AnnotationAssertion( "BRYLIB1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001391"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj Neurodevelopmental Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Herpes Simplex Encephalitis 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614849"^^xsd:string) AnnotationAssertion( "IIAE5"^^xsd:string) AnnotationAssertion( "TRAF3 HAPLOINSUFFICIENCY"^^xsd:string) AnnotationAssertion( "TRAF3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "Herpes Simplex Encephalitis, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "DOID:9001392"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Simplex Encephalitis 3"^^xsd:string) SubClassOf( ) # Class: (Patternless Dermal Ridges) AnnotationAssertion( "MIM:125540"^^xsd:string) AnnotationAssertion( "MESH:C565109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001393"^^xsd:string) AnnotationAssertion(rdfs:label "Patternless Dermal Ridges"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Walker Dyson Syndrome) AnnotationAssertion( "MESH:C536568"^^xsd:string) AnnotationAssertion( "RDO:0002188"^^xsd:string) AnnotationAssertion( "Aniridia associated with mental retardation and other eye abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001395"^^xsd:string) AnnotationAssertion(rdfs:label "Walker Dyson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis) AnnotationAssertion( "MIM:605756"^^xsd:string) AnnotationAssertion( "MESH:C565295"^^xsd:string) AnnotationAssertion( "hypergonadotropic gonadal dysgenesis, XX type, with short stature and recurrent metabolic acidosis"^^xsd:string) AnnotationAssertion( "hypergonadotropic ovarian dysgenesis with short stature and recurrent metabolic acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001396"^^xsd:string) AnnotationAssertion(rdfs:label "Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (5-Hydroxytryptamine Oxygenase Regulator) AnnotationAssertion( "MIM:143460"^^xsd:string) AnnotationAssertion( "RDO:0008008"^^xsd:string) AnnotationAssertion( "HTOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001397"^^xsd:string) AnnotationAssertion(rdfs:label "5-Hydroxytryptamine Oxygenase Regulator"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease Polydactyly Heart Disease) AnnotationAssertion( "MESH:C538120"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001398"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease Polydactyly Heart Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-16T09:21:20Z"^^xsd:string) AnnotationAssertion( "MIM:618316"^^xsd:string) AnnotationAssertion( "IDDCDF"^^xsd:string) AnnotationAssertion( "TMEM94-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001399"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aliivibrio Infections) AnnotationAssertion(Annotation( "MESH:D059707"^^xsd:string) "Infections with bacteria of the genus ALIIVIBRIO."^^xsd:string) AnnotationAssertion( "MESH:D059707"^^xsd:string) AnnotationAssertion( "Aliivibrio Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001400"^^xsd:string) AnnotationAssertion(rdfs:label "Aliivibrio Infections"^^xsd:string) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 9) AnnotationAssertion( "An autosomal dominant neurologic disorder characterized as a malformation of cortical development caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-30T07:52:46Z"^^xsd:string) AnnotationAssertion( "MAP1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618918"^^xsd:string) AnnotationAssertion( "PVNH9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001401"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 9"^^xsd:string) SubClassOf( ) # Class: (Acro-Osteolysis) AnnotationAssertion(Annotation( "MESH:D030981"^^xsd:string) "A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME."^^xsd:string) AnnotationAssertion( "MIM:102400"^^xsd:string) AnnotationAssertion( "MESH:D030981"^^xsd:string) AnnotationAssertion( "acro-osteolysis syndrome"^^xsd:string) AnnotationAssertion( "acro-osteolysis syndromes"^^xsd:string) AnnotationAssertion( "acroosteolysis"^^xsd:string) AnnotationAssertion( "acroosteolysis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001402"^^xsd:string) AnnotationAssertion(rdfs:label "Acro-Osteolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aphalangia Syndactyly Microcephaly) AnnotationAssertion( "MESH:C537787"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001404"^^xsd:string) AnnotationAssertion(rdfs:label "Aphalangia Syndactyly Microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Henipavirus Infections) AnnotationAssertion(Annotation( "MESH:D045464"^^xsd:string) "Infections with viruses of the genus HENIPAVIRUS, family PARAMYXOVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007300"^^xsd:string) AnnotationAssertion( "MESH:D045464"^^xsd:string) AnnotationAssertion( "RDO:0007514"^^xsd:string) AnnotationAssertion( "Henipavirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001406"^^xsd:string) AnnotationAssertion(rdfs:label "Henipavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Microphthalmos Blindness) AnnotationAssertion( "MESH:C537541"^^xsd:string) AnnotationAssertion( "RDO:0003400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001407"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Microphthalmos Blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dilated Cardiomyopathy 2J) AnnotationAssertion(Annotation( "MIM:620635"^^xsd:string) "A disease characterized by onset of heart failure within the first year of life, with severely reduced left ventricular ejection fractions. Caused by homozygous or compound heterozygous mutation in the FLII gene on chromosome 17p11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:54:57Z"^^xsd:string) AnnotationAssertion( "MIM:620635"^^xsd:string) AnnotationAssertion( "CMD2J"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001408"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 2J"^^xsd:string) SubClassOf( ) # Class: (Female Genital Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014384"^^xsd:string) "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)."^^xsd:string) AnnotationAssertion( "EFO:1000935"^^xsd:string) AnnotationAssertion( "MESH:D014384"^^xsd:string) AnnotationAssertion( "Female genital tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001409"^^xsd:string) AnnotationAssertion(rdfs:label "Female Genital Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acquired CJD) AnnotationAssertion( "MESH:C538481"^^xsd:string) AnnotationAssertion( "Sporadic CJD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001410"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired CJD"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Genetic Anticipation) AnnotationAssertion(Annotation( "MESH:D020132"^^xsd:string) "The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)"^^xsd:string) AnnotationAssertion( "MESH:D020132"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001411"^^xsd:string) AnnotationAssertion(rdfs:label "Genetic Anticipation"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, F) AnnotationAssertion( "MIM:603383"^^xsd:string) AnnotationAssertion( "primary open angle glaucoma, adult-onset"^^xsd:string) AnnotationAssertion( "MESH:C566383"^^xsd:string) AnnotationAssertion( "GLC1F"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001412"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, F"^^xsd:string) SubClassOf( ) # Class: (Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness) AnnotationAssertion( "MIM:264140"^^xsd:string) AnnotationAssertion( "MESH:C562894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001413"^^xsd:string) AnnotationAssertion(rdfs:label "Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurosyphilis) AnnotationAssertion(Annotation( "MESH:D009494"^^xsd:string) "Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)"^^xsd:string) AnnotationAssertion( "MESH:D009494"^^xsd:string) AnnotationAssertion( "General Paralyses"^^xsd:string) AnnotationAssertion( "General Paralysis"^^xsd:string) AnnotationAssertion( "General Pareses"^^xsd:string) AnnotationAssertion( "General Paresis"^^xsd:string) AnnotationAssertion( "General Paresis of the Insane"^^xsd:string) AnnotationAssertion( "Gummatous Neurosyphilis"^^xsd:string) AnnotationAssertion( "Juvenile Neurosyphilis"^^xsd:string) AnnotationAssertion( "Juvenile Pareses"^^xsd:string) AnnotationAssertion( "Juvenile Paresis"^^xsd:string) AnnotationAssertion( "Neurosyphilis, Symptomatic"^^xsd:string) AnnotationAssertion( "Paretic Neurosyphilis"^^xsd:string) AnnotationAssertion( "Secondary Neurosyphilis"^^xsd:string) AnnotationAssertion( "central nervous system syphilis"^^xsd:string) AnnotationAssertion( "syphilis, CNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001414"^^xsd:string) AnnotationAssertion(rdfs:label "Neurosyphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mycobacterium Infections) AnnotationAssertion(Annotation( "MESH:D009164"^^xsd:string) "Infections with bacteria of the genus MYCOBACTERIUM."^^xsd:string) AnnotationAssertion( "EFO:0009429"^^xsd:string) AnnotationAssertion( "MESH:D009164"^^xsd:string) AnnotationAssertion( "Mycobacterial Disease"^^xsd:string) AnnotationAssertion( "mycobacterium infection"^^xsd:string) AnnotationAssertion( "RECURRENT MYCOBACTERIAL INFECTIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Mycobacterial Disease, Mendelian Susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9001415"^^xsd:string) AnnotationAssertion(rdfs:label "Mycobacterium Infections"^^xsd:string) SubClassOf( ) # Class: (Juvenile-Onset Scleroderma) AnnotationAssertion( "MESH:C543759"^^xsd:string) AnnotationAssertion( "juvenile scleroderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001416"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile-Onset Scleroderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Femoral Neck Fractures) AnnotationAssertion(Annotation( "MESH:D005265"^^xsd:string) "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES."^^xsd:string) AnnotationAssertion( "EFO:1001792"^^xsd:string) AnnotationAssertion( "MESH:D005265"^^xsd:string) AnnotationAssertion( "femoral neck fracture"^^xsd:string) AnnotationAssertion( "femur neck fracture"^^xsd:string) AnnotationAssertion( "femur neck fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001417"^^xsd:string) AnnotationAssertion(rdfs:label "Femoral Neck Fractures"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES) AnnotationAssertion(Annotation( "MIM:301066"^^xsd:string) "This disease is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. The disorder affects both males and females."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-08T14:20:40Z"^^xsd:string) AnnotationAssertion( "MIM:301066"^^xsd:string) AnnotationAssertion( "MRXSPF"^^xsd:string) AnnotationAssertion( "X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001418"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fructose and Galactose Intolerance) AnnotationAssertion( "MESH:C565558"^^xsd:string) AnnotationAssertion( "MIM:229500"^^xsd:string) AnnotationAssertion( "MONDO:0009248"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001419"^^xsd:string) AnnotationAssertion(rdfs:label "Fructose and Galactose Intolerance"^^xsd:string) SubClassOf( ) # Class: (Cutaneous Hemangiomatosis with Associated Features) AnnotationAssertion( "MIM:234800"^^xsd:string) AnnotationAssertion( "MESH:C562438"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001420"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Hemangiomatosis with Associated Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diaphragmatic Hernia, Traumatic) AnnotationAssertion(Annotation( "MESH:D006549"^^xsd:string) "The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN."^^xsd:string) AnnotationAssertion( "RDO:0005787"^^xsd:string) AnnotationAssertion( "EFO:1001861"^^xsd:string) AnnotationAssertion( "MESH:D006549"^^xsd:string) AnnotationAssertion( "Traumatic Diaphragmatic Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001421"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia, Traumatic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Radial Heads, Posterior Dislocation Of) AnnotationAssertion( "MIM:179200"^^xsd:string) AnnotationAssertion( "MESH:C566728"^^xsd:string) AnnotationAssertion( "Congenital Posterior Dislocation of the Radial Head"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001422"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Heads, Posterior Dislocation Of"^^xsd:string) SubClassOf( ) # Class: (Combined Exocrine Pancreatic Insufficiency) AnnotationAssertion( "RDO:0013711"^^xsd:string) AnnotationAssertion( "MESH:C564907"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001423"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Exocrine Pancreatic Insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperleucine-Isoleucinemia) AnnotationAssertion( "MIM:238340"^^xsd:string) AnnotationAssertion( "MESH:C562674"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001424"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperleucine-Isoleucinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Triphalangeal Thumb) AnnotationAssertion( "MESH:C573898"^^xsd:string) AnnotationAssertion( "RDO:0015779"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001425"^^xsd:string) AnnotationAssertion(rdfs:label "Triphalangeal Thumb"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Geographic Atrophy) AnnotationAssertion(Annotation( "MESH:D057092"^^xsd:string) "A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates."^^xsd:string) AnnotationAssertion( "EFO:1001492"^^xsd:string) AnnotationAssertion( "MESH:D057092"^^xsd:string) AnnotationAssertion( "Dry Macular Degeneration"^^xsd:string) AnnotationAssertion( "Dry Macular Degenerations"^^xsd:string) AnnotationAssertion( "Geographic Atrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001427"^^xsd:string) AnnotationAssertion(rdfs:label "Geographic Atrophy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Cortisol Resistance) AnnotationAssertion( "RDO:0000270"^^xsd:string) AnnotationAssertion( "MESH:C535280"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001429"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Cortisol Resistance"^^xsd:string) SubClassOf( ) # Class: (Maroteaux Fonfria Syndrome) AnnotationAssertion( "MESH:C536023"^^xsd:string) AnnotationAssertion( "RDO:0001434"^^xsd:string) AnnotationAssertion( "Apert syndrome with polydactyly of hands and feet"^^xsd:string) AnnotationAssertion( "Apparent Apert syndrome with polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001430"^^xsd:string) AnnotationAssertion(rdfs:label "Maroteaux Fonfria Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (internalizing disorder) AnnotationAssertion(Annotation( "EFO:0020971"^^xsd:string) "This disease is a type of mental or behavioral disorder, typically in children and young adults, with symptoms including depression, anxiety and withdrawal."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-05T11:26:10Z"^^xsd:string) AnnotationAssertion( "EFO:0020971"^^xsd:string) AnnotationAssertion( "internalizing behavior"^^xsd:string) AnnotationAssertion( "internalizing symptoms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001431"^^xsd:string) AnnotationAssertion(rdfs:label "internalizing disorder"^^xsd:string) SubClassOf( ) # Class: (Oculocutaneous Albinism Type VIII) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-29T14:16:28Z"^^xsd:string) AnnotationAssertion( "MIM:619165"^^xsd:string) AnnotationAssertion( "OCA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001432"^^xsd:string) AnnotationAssertion(rdfs:label "Oculocutaneous Albinism Type VIII"^^xsd:string) SubClassOf( ) # Class: (Multiple Eruptive Milia) AnnotationAssertion( "MIM:157400"^^xsd:string) AnnotationAssertion( "MESH:C562823"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001433"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Eruptive Milia"^^xsd:string) SubClassOf( ) # Class: (Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome) AnnotationAssertion( "Characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Caused by heterozygous mutation in the TRIM8 gene on chromosome 10q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T16:53:38Z"^^xsd:string) AnnotationAssertion( "MIM:619428"^^xsd:string) AnnotationAssertion( "FSGSNEDS"^^xsd:string) AnnotationAssertion( "TRIM8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001434"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant) AnnotationAssertion( "RDO:0014213"^^xsd:string) AnnotationAssertion( "MESH:C565626"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001435"^^xsd:string) AnnotationAssertion(rdfs:label "Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 68) AnnotationAssertion( "An autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:612260"^^xsd:string) AnnotationAssertion( "MESH:C567379"^^xsd:string) AnnotationAssertion( "MYD88 deficiency"^^xsd:string) AnnotationAssertion( "MYD88D"^^xsd:string) AnnotationAssertion( "Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001436"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 68"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aplasia or Hypoplasia of Breasts and/or Nipples 2) AnnotationAssertion( "MIM:616001"^^xsd:string) AnnotationAssertion( "BNAH2"^^xsd:string) AnnotationAssertion( "aplasia or hypoplasia of the breasts and/or nipples-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001437"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia or Hypoplasia of Breasts and/or Nipples 2"^^xsd:string) SubClassOf( ) # Class: (Pseudoatrophoderma Colli) AnnotationAssertion( "MIM:177350"^^xsd:string) AnnotationAssertion( "MESH:C562909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001438"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoatrophoderma Colli"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oculopharyngeal Myopathy with Leukoencephalopathy 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-23T12:37:17Z"^^xsd:string) AnnotationAssertion( "MIM:618637"^^xsd:string) AnnotationAssertion( "OPML1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001440"^^xsd:string) AnnotationAssertion(rdfs:label "Oculopharyngeal Myopathy with Leukoencephalopathy 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adenomatous Polyps) AnnotationAssertion(Annotation( "MESH:D018256"^^xsd:string) "Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018256"^^xsd:string) AnnotationAssertion( "Adenomatous Polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001441"^^xsd:string) AnnotationAssertion(rdfs:label "Adenomatous Polyps"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ho Kaufman Mcalister Syndrome) AnnotationAssertion( "MESH:C538325"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001442"^^xsd:string) AnnotationAssertion(rdfs:label "Ho Kaufman Mcalister Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypercapnia) AnnotationAssertion(Annotation( "MESH:D006935"^^xsd:string) "A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood."^^xsd:string) AnnotationAssertion( "MESH:D006935"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001443"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercapnia"^^xsd:string) SubClassOf( ) # Class: (Moyamoya Disease 5) AnnotationAssertion( "MIM:614042"^^xsd:string) AnnotationAssertion( "MYMY5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001444"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 5"^^xsd:string) SubClassOf( ) # Class: (Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features) AnnotationAssertion( "neurodevelopmental and congenital anomalies"^^xsd:string) AnnotationAssertion( "MIM:616728"^^xsd:string) AnnotationAssertion( "CPRF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001445"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mesial Movement of Teeth) AnnotationAssertion(Annotation( "MESH:D008644"^^xsd:string) "Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher's Clinical Dental Terminology, 4th ed)"^^xsd:string) AnnotationAssertion( "MESH:D008644"^^xsd:string) AnnotationAssertion( "RDO:0006118"^^xsd:string) AnnotationAssertion( "Mesial Drift of Teeth"^^xsd:string) AnnotationAssertion( "Mesial Migration of Teeth"^^xsd:string) AnnotationAssertion( "Teeth Mesial Drift"^^xsd:string) AnnotationAssertion( "Teeth Mesial Migration"^^xsd:string) AnnotationAssertion( "Teeth Mesial Movement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001446"^^xsd:string) AnnotationAssertion(rdfs:label "Mesial Movement of Teeth"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia with Hypotrichosis) AnnotationAssertion( "MIM:183849"^^xsd:string) AnnotationAssertion( "MESH:C535783"^^xsd:string) AnnotationAssertion( "Whyte Petersen McAlister syndrome"^^xsd:string) AnnotationAssertion( "Whyte syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001447"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia with Hypotrichosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Thrombomodulin Anomalies) AnnotationAssertion( "MESH:C536900"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001448"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thrombomodulin Anomalies"^^xsd:string) SubClassOf( ) # Class: (Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction) AnnotationAssertion(Annotation( "MIM:619482"^^xsd:string) "This disease is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-15T13:30:54Z"^^xsd:string) AnnotationAssertion( "MIM:619482"^^xsd:string) AnnotationAssertion( "CCHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001449"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy) AnnotationAssertion( "MIM:239840"^^xsd:string) AnnotationAssertion( "MESH:C565492"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001450"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acrodysostosis 1, with or without Hormone Resistance) AnnotationAssertion( "MIM:101800"^^xsd:string) AnnotationAssertion( "ACRDYS1"^^xsd:string) AnnotationAssertion( "ADOHR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001451"^^xsd:string) AnnotationAssertion(rdfs:label "Acrodysostosis 1, with or without Hormone Resistance"^^xsd:string) SubClassOf( ) # Class: (Chromosome 8, Monosomy 8p) AnnotationAssertion( "MESH:C537825"^^xsd:string) AnnotationAssertion( "Deletion 8p"^^xsd:string) AnnotationAssertion( "Monosomy 8p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001452"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Monosomy 8p"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Partial Trisomy 3q Syndrome) AnnotationAssertion( "MESH:C537635"^^xsd:string) AnnotationAssertion( "RDO:0003511"^^xsd:string) AnnotationAssertion( "Chromosome 3, Distal 3q2 Trisomy"^^xsd:string) AnnotationAssertion( "Chromosome 3, Trisomy 3q2"^^xsd:string) AnnotationAssertion( "Partial Duplication 3q Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001454"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Trisomy 3q Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Helminthiasis) AnnotationAssertion( "MESH:C531698"^^xsd:string) AnnotationAssertion( "RDO:0000118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001455"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Helminthiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Malalignment) AnnotationAssertion(Annotation( "MESH:D017760"^^xsd:string) "Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin."^^xsd:string) AnnotationAssertion( "MESH:D017760"^^xsd:string) AnnotationAssertion( "Bone Malalignments"^^xsd:string) AnnotationAssertion( "Bone Malposition"^^xsd:string) AnnotationAssertion( "Bone Malpositions"^^xsd:string) AnnotationAssertion( "Bone Misalignment"^^xsd:string) AnnotationAssertion( "Bone Misalignments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001456"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Malalignment"^^xsd:string) SubClassOf( ) # Class: (Dyssegmental Dysplasia, Rolland-Desbuquois Type) AnnotationAssertion( "MIM:224400"^^xsd:string) AnnotationAssertion( "MESH:C537999"^^xsd:string) AnnotationAssertion( "Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type"^^xsd:string) AnnotationAssertion( "Dyssegmental dwarfism, Rolland-Desbuquois type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001457"^^xsd:string) AnnotationAssertion(rdfs:label "Dyssegmental Dysplasia, Rolland-Desbuquois Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypophosphatemic Rickets) AnnotationAssertion(Annotation( "MESH:D063730"^^xsd:string) "A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism."^^xsd:string) AnnotationAssertion( "MESH:D063730"^^xsd:string) AnnotationAssertion( "Acquired Vitamin D Resistant Rickets"^^xsd:string) AnnotationAssertion( "Hypocalcemic Vitamin D Resistant Rickets"^^xsd:string) AnnotationAssertion( "Hypophosphatemia, Vitamin D-Resistant Rickets"^^xsd:string) AnnotationAssertion( "Hypophosphatemic Ricket"^^xsd:string) AnnotationAssertion( "Hypophosphatemic Vitamin D Resistant Rickets"^^xsd:string) AnnotationAssertion( "Vitamin D-Resistant Rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001458"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophosphatemic Rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation Associated with Psoriasis) AnnotationAssertion( "MIM:309480"^^xsd:string) AnnotationAssertion( "MESH:C564107"^^xsd:string) AnnotationAssertion( "Mental Retardation and Psoriasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001459"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Associated with Psoriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (22q11 Deletion Syndrome) AnnotationAssertion(Annotation( "MESH:D058165"^^xsd:string) "Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome."^^xsd:string) AnnotationAssertion( "MESH:D058165"^^xsd:string) AnnotationAssertion( "22q11 Deletion Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001460"^^xsd:string) AnnotationAssertion(rdfs:label "22q11 Deletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autonomic Dysreflexia) AnnotationAssertion(Annotation( "MESH:D020211"^^xsd:string) "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)"^^xsd:string) AnnotationAssertion( "EFO:1001762"^^xsd:string) AnnotationAssertion( "MESH:D020211"^^xsd:string) AnnotationAssertion( "Autonomic Dysreflexias"^^xsd:string) AnnotationAssertion( "Autonomic Hyperreflexia"^^xsd:string) AnnotationAssertion( "Autonomic Hyperreflexias"^^xsd:string) AnnotationAssertion( "Spinal Autonomic Dysreflexia"^^xsd:string) AnnotationAssertion( "Spinal Autonomic Dysreflexias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001461"^^xsd:string) AnnotationAssertion(rdfs:label "Autonomic Dysreflexia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meibomian Gland Dysfunction) AnnotationAssertion( "A chronic dysfunction of MEIBOMIAN GLANDS characterized by altered tear film stability and function due to a decrease or alteration in lipid quality/content in meibum. It is often associated with evaporative-type DRY EYE SYNDROME. (MESH)"^^xsd:string) AnnotationAssertion( "MESH:D000080343"^^xsd:string) AnnotationAssertion( "MG dysfunction"^^xsd:string) AnnotationAssertion( "MGD"^^xsd:string) AnnotationAssertion( "posterior blepharitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001462"^^xsd:string) AnnotationAssertion(rdfs:label "Meibomian Gland Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Shaheen Syndrome) AnnotationAssertion( "COG6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615328"^^xsd:string) AnnotationAssertion( "SHNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001463"^^xsd:string) AnnotationAssertion(rdfs:label "Shaheen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Weill-Marchesani Syndrome 2) AnnotationAssertion( "MIM:608328"^^xsd:string) AnnotationAssertion( "MESH:C537679"^^xsd:string) AnnotationAssertion( "GEMMS"^^xsd:string) AnnotationAssertion( "GEMSS Syndrome"^^xsd:string) AnnotationAssertion( "Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome"^^xsd:string) AnnotationAssertion( "Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome"^^xsd:string) AnnotationAssertion( "WMS2"^^xsd:string) AnnotationAssertion( "Weill Marchesani syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001464"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic venous hypertension) AnnotationAssertion(Annotation( "EFO:0010675"^^xsd:string) "Chronic venous insufficiency is a result of venous hypertension which is secondary to venous valvular reflux in deep or superficial veins."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-05T15:29:53Z"^^xsd:string) AnnotationAssertion( "EFO:0010675"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001465"^^xsd:string) AnnotationAssertion(rdfs:label "chronic venous hypertension"^^xsd:string) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Hirschsprung Disease Ganglioneuroblastoma) AnnotationAssertion( "MESH:C538119"^^xsd:string) AnnotationAssertion( "Neuroblastoma with Hirschsprung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001466"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease Ganglioneuroblastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Livedo Reticularis) AnnotationAssertion(Annotation( "MESH:D054068"^^xsd:string) "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming."^^xsd:string) AnnotationAssertion( "EFO:1001804"^^xsd:string) AnnotationAssertion( "MESH:D054068"^^xsd:string) AnnotationAssertion( "RDO:0007650"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001467"^^xsd:string) AnnotationAssertion(rdfs:label "Livedo Reticularis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neglected Diseases) AnnotationAssertion(Annotation( "MESH:D058069"^^xsd:string) "Diseases that are underfunded and have low name recognition but are major burdens in less developed countries. The World Health Organization has designated six tropical infectious diseases as being neglected in industrialized countries that are endemic in many developing countries (HELMINTHIASIS; LEPROSY; LYMPHATIC FILARIASIS; ONCHOCERCIASIS; SCHISTOSOMIASIS; and TRACHOMA)."^^xsd:string) AnnotationAssertion( "MESH:D058069"^^xsd:string) AnnotationAssertion( "Neglected Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001468"^^xsd:string) AnnotationAssertion(rdfs:label "Neglected Diseases"^^xsd:string) SubClassOf( ) # Class: (Acrogeria, Gottron Type) AnnotationAssertion( "MIM:201200"^^xsd:string) AnnotationAssertion( "MESH:C538187"^^xsd:string) AnnotationAssertion( "Acrometageria"^^xsd:string) AnnotationAssertion( "Metageria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001469"^^xsd:string) AnnotationAssertion(rdfs:label "Acrogeria, Gottron Type"^^xsd:string) SubClassOf( ) # Class: (Ciguatera Poisoning) AnnotationAssertion(Annotation( "MESH:D036841"^^xsd:string) "Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances."^^xsd:string) AnnotationAssertion( "EFO:1001291"^^xsd:string) AnnotationAssertion( "MESH:D036841"^^xsd:string) AnnotationAssertion( "Ciguatera"^^xsd:string) AnnotationAssertion( "Ciguatera Fish Poisoning"^^xsd:string) AnnotationAssertion( "Ciguatera Fish Poisonings"^^xsd:string) AnnotationAssertion( "Ciguatera Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001470"^^xsd:string) AnnotationAssertion(rdfs:label "Ciguatera Poisoning"^^xsd:string) SubClassOf( ) # Class: (Anorectal Malformations) AnnotationAssertion(Annotation( "MESH:D000071056"^^xsd:string) "Congenital defects in the anus and the rectum often involving the urinary and genital tracts."^^xsd:string) AnnotationAssertion( "MIM:107100"^^xsd:string) AnnotationAssertion( "MESH:D000071056"^^xsd:string) AnnotationAssertion( "MONDO:0019938"^^xsd:string) AnnotationAssertion( "anorectal anomalies"^^xsd:string) AnnotationAssertion( "anorectal anomaly"^^xsd:string) AnnotationAssertion( "anorectal atresia"^^xsd:string) AnnotationAssertion( "anorectal atresias"^^xsd:string) AnnotationAssertion( "anorectal malformation"^^xsd:string) AnnotationAssertion( "anorectal stenoses"^^xsd:string) AnnotationAssertion( "anorectal stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001471"^^xsd:string) AnnotationAssertion(rdfs:label "Anorectal Malformations"^^xsd:string) SubClassOf( ) # Class: (Nasal Polyps) AnnotationAssertion(Annotation( "MESH:D009298"^^xsd:string) "Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations."^^xsd:string) AnnotationAssertion( "EFO:1000391"^^xsd:string) AnnotationAssertion( "MESH:D009298"^^xsd:string) AnnotationAssertion( "RDO:0001584"^^xsd:string) AnnotationAssertion( "Nasal Polyp"^^xsd:string) AnnotationAssertion( "Nasal Polyposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001472"^^xsd:string) AnnotationAssertion(rdfs:label "Nasal Polyps"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Severe Chronic Neutropenia) AnnotationAssertion( "MESH:C535815"^^xsd:string) AnnotationAssertion( "benign familial leukopenia"^^xsd:string) AnnotationAssertion( "chronic familial neutropenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001473"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Chronic Neutropenia"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements) AnnotationAssertion(Annotation( "MIM:618497"^^xsd:string) "An autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-16T12:55:55Z"^^xsd:string) AnnotationAssertion( "EFO:0010276"^^xsd:string) AnnotationAssertion( "MIM:618497"^^xsd:string) AnnotationAssertion( "CACNA1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDNEH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001474"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gastrocutaneous Syndrome) AnnotationAssertion( "MIM:137270"^^xsd:string) AnnotationAssertion( "MESH:C535651"^^xsd:string) AnnotationAssertion( "peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001475"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrocutaneous Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Yuan-Harel-Lupski Syndrome) AnnotationAssertion(Annotation( "MIM:616652"^^xsd:string) "A complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. Caused by a contiguous gene duplication of chromosome 17p12-p11.2, including the PMP22 and RAI1 genes."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-27T15:13:48Z"^^xsd:string) AnnotationAssertion( "MIM:616652"^^xsd:string) AnnotationAssertion( "YUHAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001476"^^xsd:string) AnnotationAssertion(rdfs:label "Yuan-Harel-Lupski Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Khalifa Graham Syndrome) AnnotationAssertion( "MIM:600159"^^xsd:string) AnnotationAssertion( "MESH:C535831"^^xsd:string) AnnotationAssertion( "pterygium colli and mental retardation with facial and digital anomalies"^^xsd:string) AnnotationAssertion( "pterygium colli, mental retardation, digital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001477"^^xsd:string) AnnotationAssertion(rdfs:label "Khalifa Graham Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Giant Mammary Hamartoma) AnnotationAssertion( "MESH:C536818"^^xsd:string) AnnotationAssertion( "RDO:0002510"^^xsd:string) AnnotationAssertion( "Giant hamartoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001478"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Mammary Hamartoma"^^xsd:string) SubClassOf( ) # Class: (Cerebral Toxoplasmosis) AnnotationAssertion(Annotation( "MESH:D016781"^^xsd:string) "Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)"^^xsd:string) AnnotationAssertion( "EFO:0007200"^^xsd:string) AnnotationAssertion( "MESH:D016781"^^xsd:string) AnnotationAssertion( "Central Nervous System Toxoplasmosis"^^xsd:string) AnnotationAssertion( "Cerebral Toxoplasmoses"^^xsd:string) AnnotationAssertion( "Intracranial Toxoplasmosis"^^xsd:string) AnnotationAssertion( "Neurotoxoplasmosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001479"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Toxoplasmosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Muscle Rigidity) AnnotationAssertion(Annotation( "MESH:D009127"^^xsd:string) "Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)"^^xsd:string) AnnotationAssertion( "MESH:D009127"^^xsd:string) AnnotationAssertion( "Catatonic Rigidity"^^xsd:string) AnnotationAssertion( "Cogwheel Rigidities"^^xsd:string) AnnotationAssertion( "Cogwheel Rigidity"^^xsd:string) AnnotationAssertion( "Extensor Rigidity"^^xsd:string) AnnotationAssertion( "Extrapyramidal Rigidity"^^xsd:string) AnnotationAssertion( "Gegenhalten"^^xsd:string) AnnotationAssertion( "Gegenhaltens"^^xsd:string) AnnotationAssertion( "Muscular Rigidity"^^xsd:string) AnnotationAssertion( "Nuchal Rigidity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001480"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Rigidity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Axonal Type 2FF) AnnotationAssertion( "An autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Caused by heterozygous mutation in the CADM3 gene on chromosome 1q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-20T10:10:05Z"^^xsd:string) AnnotationAssertion( "MIM:619519"^^xsd:string) AnnotationAssertion( "CMT2FF"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2FF"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2FF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001481"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Axonal Type 2FF"^^xsd:string) SubClassOf( ) # Class: (Inhalation Burns) AnnotationAssertion(Annotation( "MESH:D002059"^^xsd:string) "Burns of the respiratory tract caused by heat or inhaled chemicals."^^xsd:string) AnnotationAssertion( "MESH:D002059"^^xsd:string) AnnotationAssertion( "Inhalation Burn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001482"^^xsd:string) AnnotationAssertion(rdfs:label "Inhalation Burns"^^xsd:string) SubClassOf( ) # Class: (Distal Arthrogryposis Type 2B4) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-26T12:00:12Z"^^xsd:string) AnnotationAssertion( "DA2B4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001483"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis Type 2B4"^^xsd:string) SubClassOf( ) # Class: (Chromosome 13 Ring) AnnotationAssertion( "MESH:C538303"^^xsd:string) AnnotationAssertion( "RDO:0004265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001484"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13 Ring"^^xsd:string) SubClassOf( ) # Class: (Sacral Agenesis Syndrome) AnnotationAssertion( "MESH:C566762"^^xsd:string) AnnotationAssertion( "hereditary sacral agenesis with presacral mass, anterior meningocele, and-or teratoma, and anorectal malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001485"^^xsd:string) AnnotationAssertion(rdfs:label "Sacral Agenesis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radio Renal Syndrome) AnnotationAssertion( "MIM:179280"^^xsd:string) AnnotationAssertion( "MESH:C536267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001486"^^xsd:string) AnnotationAssertion(rdfs:label "Radio Renal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facies) AnnotationAssertion(Annotation( "MESH:D019066"^^xsd:string) "The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)"^^xsd:string) AnnotationAssertion( "MESH:D019066"^^xsd:string) AnnotationAssertion( "facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001487"^^xsd:string) AnnotationAssertion(rdfs:label "Facies"^^xsd:string) SubClassOf( ) # Class: (Human Influenza) AnnotationAssertion(Annotation( "MESH:D007251"^^xsd:string) "An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia."^^xsd:string) AnnotationAssertion( "MIM:614680"^^xsd:string) AnnotationAssertion( "EFO:0001669"^^xsd:string) AnnotationAssertion( "EFO:0007328"^^xsd:string) AnnotationAssertion( "MESH:D007251"^^xsd:string) AnnotationAssertion( "Human Flu"^^xsd:string) AnnotationAssertion( "Human Influenzas"^^xsd:string) AnnotationAssertion( "INFLUENZA, SEVERE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Influenza in Human"^^xsd:string) AnnotationAssertion( "Influenza in Humans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001488"^^xsd:string) AnnotationAssertion(rdfs:label "Human Influenza"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rudiger Syndrome) AnnotationAssertion( "MIM:268650"^^xsd:string) AnnotationAssertion( "MESH:C562912"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001489"^^xsd:string) AnnotationAssertion(rdfs:label "Rudiger Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fallot Complex with Severe Mental and Growth Retardation) AnnotationAssertion( "MIM:601127"^^xsd:string) AnnotationAssertion( "MESH:C536608"^^xsd:string) AnnotationAssertion( "Bindewald Ulmer Muller syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001490"^^xsd:string) AnnotationAssertion(rdfs:label "Fallot Complex with Severe Mental and Growth Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sarcoma 37) AnnotationAssertion(Annotation( "MESH:D012511"^^xsd:string) "An experimental sarcoma of mice."^^xsd:string) AnnotationAssertion( "MESH:D012511"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001491"^^xsd:string) AnnotationAssertion(rdfs:label "Sarcoma 37"^^xsd:string) SubClassOf( ) # Class: (Lowry Maclean syndrome) AnnotationAssertion( "MIM:600252"^^xsd:string) AnnotationAssertion( "MESH:C537037"^^xsd:string) AnnotationAssertion( "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001492"^^xsd:string) AnnotationAssertion(rdfs:label "Lowry Maclean syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alpha-Fetoprotein Deficiency) AnnotationAssertion( "MIM:615969"^^xsd:string) AnnotationAssertion( "MESH:C566300"^^xsd:string) AnnotationAssertion( "AFPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001493"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Fetoprotein Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cataract, Lamellar 2) AnnotationAssertion( "MESH:C566481"^^xsd:string) AnnotationAssertion( "RDO:0014823"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001495"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Lamellar 2"^^xsd:string) SubClassOf( ) # Class: (Sanderson Fraser Syndrome) AnnotationAssertion( "MESH:C537232"^^xsd:string) AnnotationAssertion( "Proptosis, Robin association, clenched hands, and multiple abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001496"^^xsd:string) AnnotationAssertion(rdfs:label "Sanderson Fraser Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tay-Sachs Disease, Juvenile) AnnotationAssertion( "MESH:C564782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001497"^^xsd:string) AnnotationAssertion(rdfs:label "Tay-Sachs Disease, Juvenile"^^xsd:string) SubClassOf( ) # Class: (DNA Degradation, Necrotic) AnnotationAssertion(Annotation( "MESH:D053836"^^xsd:string) "The random catabolism of DNA accompaning the irreversible damage to tissue which leads to the pathological death of one or more cells."^^xsd:string) AnnotationAssertion( "MESH:D053836"^^xsd:string) AnnotationAssertion( "RDO:0007640"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001498"^^xsd:string) AnnotationAssertion(rdfs:label "DNA Degradation, Necrotic"^^xsd:string) SubClassOf( ) # Class: (Orthomyxoviridae Infections) AnnotationAssertion(Annotation( "MESH:D009976"^^xsd:string) "Virus diseases caused by the ORTHOMYXOVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007411"^^xsd:string) AnnotationAssertion( "MESH:D009976"^^xsd:string) AnnotationAssertion( "RDO:0005628"^^xsd:string) AnnotationAssertion( "Orthomyxoviridae Infection"^^xsd:string) AnnotationAssertion( "Orthomyxoviridae infectious disease"^^xsd:string) AnnotationAssertion( "Orthomyxovirus Infection"^^xsd:string) AnnotationAssertion( "Orthomyxovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001499"^^xsd:string) AnnotationAssertion(rdfs:label "Orthomyxoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Sd(a) POLYAGGLUTINATION SYNDROME) AnnotationAssertion(Annotation( "MIM:615018"^^xsd:string) "This condition is a result of a patient with low Sid antigen (Sd(a+) strength being transfused with blood of high Sid antigen strength (Sd(a++). Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but red cell agglutination and a transfusion reaction can occur if the donor blood has cells showing strong Sd(a++) expression."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-03T10:46:31Z"^^xsd:string) AnnotationAssertion( "MIM:615018"^^xsd:string) AnnotationAssertion( "SDPS"^^xsd:string) AnnotationAssertion( "Sd(a-) PHENOTYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BLOOD GROUP, SID SYSTEM"^^xsd:string) AnnotationAssertion( "DOID:9001500"^^xsd:string) AnnotationAssertion(rdfs:label "Sd(a) POLYAGGLUTINATION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal) AnnotationAssertion( "MESH:C563463"^^xsd:string) AnnotationAssertion( "MIM:608836"^^xsd:string) AnnotationAssertion( "MONDO:0012136"^^xsd:string) AnnotationAssertion( "CPT II Deficiency, Lethal Neonatal"^^xsd:string) AnnotationAssertion( "CPT2 Deficiency, Lethal Neonatal"^^xsd:string) AnnotationAssertion( "Carnitine Palmitoyltransferase II Deficiency, Antenatal"^^xsd:string) AnnotationAssertion( "Carnitine Palmitoyltransferase II Deficiency, Neonatal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001501"^^xsd:string) AnnotationAssertion(rdfs:label "Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Microtia) AnnotationAssertion(Annotation( "MESH:D065817"^^xsd:string) "Malformation of external portion of EAR AURICLE."^^xsd:string) AnnotationAssertion( "RDO:0015947"^^xsd:string) AnnotationAssertion( "MESH:D065817"^^xsd:string) AnnotationAssertion( "NCI:C180842"^^xsd:string) AnnotationAssertion( "Anotia"^^xsd:string) AnnotationAssertion( "Anotias"^^xsd:string) AnnotationAssertion( "Congenital Microtias"^^xsd:string) AnnotationAssertion( "microtia"^^xsd:string) AnnotationAssertion( "microtias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001502"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Microtia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION) AnnotationAssertion(Annotation( "MIM:618797"^^xsd:string) "This disease is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-11T15:48:00Z"^^xsd:string) AnnotationAssertion( "MIM:618797"^^xsd:string) AnnotationAssertion( "NEDHRIT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001503"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Transient Erythroblastopenia of Childhood) AnnotationAssertion( "MIM:227050"^^xsd:string) AnnotationAssertion( "MESH:C536980"^^xsd:string) AnnotationAssertion( "RDO:0002718"^^xsd:string) AnnotationAssertion( "Erythroblastopenia, transient"^^xsd:string) AnnotationAssertion( "Familial transient erythroblastopenia of childhood"^^xsd:string) AnnotationAssertion( "TEC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001504"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Erythroblastopenia of Childhood"^^xsd:string) SubClassOf( ) # Class: (Anal Fissure) AnnotationAssertion(Annotation( "MESH:D005401"^^xsd:string) "A painful linear ulcer at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal. (Dorland, 27th ed & Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D005401"^^xsd:string) AnnotationAssertion( "anal ulcer"^^xsd:string) AnnotationAssertion( "anal ulcers"^^xsd:string) AnnotationAssertion( "fissure in ano"^^xsd:string) AnnotationAssertion( "nontraumatic tear of anus"^^xsd:string) AnnotationAssertion( "solitary anal ulcer"^^xsd:string) AnnotationAssertion( "ulcer of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001505"^^xsd:string) AnnotationAssertion(rdfs:label "Anal Fissure"^^xsd:string) SubClassOf( ) # Class: (Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas) AnnotationAssertion( "MIM:603643"^^xsd:string) AnnotationAssertion( "MESH:C536666"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001506"^^xsd:string) AnnotationAssertion(rdfs:label "Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nairobi Sheep Disease) AnnotationAssertion(Annotation( "MESH:D009265"^^xsd:string) "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis."^^xsd:string) AnnotationAssertion( "MESH:D009265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001508"^^xsd:string) AnnotationAssertion(rdfs:label "Nairobi Sheep Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deltaretrovirus Infections) AnnotationAssertion(Annotation( "MESH:D006800"^^xsd:string) "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)."^^xsd:string) AnnotationAssertion( "EFO:1001303"^^xsd:string) AnnotationAssertion( "MESH:D006800"^^xsd:string) AnnotationAssertion( "RDO:0005817"^^xsd:string) AnnotationAssertion( "BLV Infection"^^xsd:string) AnnotationAssertion( "BLV Infections"^^xsd:string) AnnotationAssertion( "Deltaretrovirus Infection"^^xsd:string) AnnotationAssertion( "HTLV BLV Infections"^^xsd:string) AnnotationAssertion( "HTLV Infection"^^xsd:string) AnnotationAssertion( "HTLV Infections"^^xsd:string) AnnotationAssertion( "HTLV-BLV Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001509"^^xsd:string) AnnotationAssertion(rdfs:label "Deltaretrovirus Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Funnel Chest) AnnotationAssertion(Annotation( "MESH:D005660"^^xsd:string) "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax."^^xsd:string) AnnotationAssertion( "MIM:169300"^^xsd:string) AnnotationAssertion( "MESH:D005660"^^xsd:string) AnnotationAssertion( "funnel chests"^^xsd:string) AnnotationAssertion( "pectus excavatum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001510"^^xsd:string) AnnotationAssertion(rdfs:label "Funnel Chest"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pili Torti) AnnotationAssertion( "MIM:261900"^^xsd:string) AnnotationAssertion( "MESH:C562485"^^xsd:string) AnnotationAssertion( "Twisted Hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001511"^^xsd:string) AnnotationAssertion(rdfs:label "Pili Torti"^^xsd:string) SubClassOf( ) # Class: (Familial Amyloid Polyneuropathies) AnnotationAssertion( "Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN."^^xsd:string) AnnotationAssertion( "DOID:8943"^^xsd:string) AnnotationAssertion( "MESH:D028227"^^xsd:string) AnnotationAssertion( "NCI:C84554"^^xsd:string) AnnotationAssertion( "Amyloid Neuropathy Type 1"^^xsd:string) AnnotationAssertion( "Appalachian Type Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "British Type Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Familial Amyloid Neuropathy, Andrade Type"^^xsd:string) AnnotationAssertion( "Familial Amyloid Polyneuropathies"^^xsd:string) AnnotationAssertion( "Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Familial Portuguese Polyneuritic Amyloidosis"^^xsd:string) AnnotationAssertion( "Hereditary Neuropathic Amyloidoses"^^xsd:string) AnnotationAssertion( "Hereditary Neuropathic Amyloidosis"^^xsd:string) AnnotationAssertion( "Iowa Type Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Jewish Type Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Neuropathic Amyloid Syndrome"^^xsd:string) AnnotationAssertion( "Neuropathic Amyloid Syndromes"^^xsd:string) AnnotationAssertion( "Portuguese Polyneuritic Amyloidoses"^^xsd:string) AnnotationAssertion( "Portuguese Polyneuritic Amyloidosis"^^xsd:string) AnnotationAssertion( "Portuguese Type Familial Amyloid Neuropathy"^^xsd:string) AnnotationAssertion( "Swiss Type Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Type I Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Type II Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Type III Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Type V Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Type VI Familial Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Wohlwill Andrade Syndrome"^^xsd:string) AnnotationAssertion( "Wohlwill Corino Andrade syndrome"^^xsd:string) AnnotationAssertion( "familial amyloid neuropathies"^^xsd:string) AnnotationAssertion( "Familial Amyloid Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001512"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Amyloid Polyneuropathies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Asthenozoospermia) AnnotationAssertion(Annotation( "MESH:D053627"^^xsd:string) "A condition in which the percentage of motile sperm is abnormally low."^^xsd:string) AnnotationAssertion( "MESH:D053627"^^xsd:string) AnnotationAssertion( "Astheno Teratozoospermia"^^xsd:string) AnnotationAssertion( "Astheno Teratozoospermias"^^xsd:string) AnnotationAssertion( "Asthenoteratozoospermia"^^xsd:string) AnnotationAssertion( "Asthenoteratozoospermias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001513"^^xsd:string) AnnotationAssertion(rdfs:label "Asthenozoospermia"^^xsd:string) SubClassOf( ) # Class: (Hypophosphatemic Rickets, Autosomal Recessive, 1) AnnotationAssertion( "MIM:241520"^^xsd:string) AnnotationAssertion( "MESH:C562792"^^xsd:string) AnnotationAssertion( "ARHP"^^xsd:string) AnnotationAssertion( "ARHR"^^xsd:string) AnnotationAssertion( "ARHR1"^^xsd:string) AnnotationAssertion( "Hypophosphatemia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001514"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophosphatemic Rickets, Autosomal Recessive, 1"^^xsd:string) SubClassOf( ) # Class: (Angioma Serpiginosum, Autosomal Dominant) AnnotationAssertion( "MIM:106050"^^xsd:string) AnnotationAssertion( "RDO:0001926"^^xsd:string) AnnotationAssertion( "MESH:C536365"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001515"^^xsd:string) AnnotationAssertion(rdfs:label "Angioma Serpiginosum, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 6) AnnotationAssertion( "MIM:611788"^^xsd:string) AnnotationAssertion( "MESH:C567085"^^xsd:string) AnnotationAssertion( "AAT6"^^xsd:string) AnnotationAssertion( "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001516"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kapur Toriello Syndrome) AnnotationAssertion( "MIM:244300"^^xsd:string) AnnotationAssertion( "MESH:C537008"^^xsd:string) AnnotationAssertion( "Cleft lip palate, facial, eye, heart and intestinal anomalies"^^xsd:string) AnnotationAssertion( "Long columella with cleft lip-palate and eye, heart, and intestinal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001517"^^xsd:string) AnnotationAssertion(rdfs:label "Kapur Toriello Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dibasic Amino Aciduria I) AnnotationAssertion( "MIM:222690"^^xsd:string) AnnotationAssertion( "MESH:C567132"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001518"^^xsd:string) AnnotationAssertion(rdfs:label "Dibasic Amino Aciduria I"^^xsd:string) SubClassOf( ) # Class: (Acneiform Eruptions) AnnotationAssertion(Annotation( "MESH:D017486"^^xsd:string) "Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)"^^xsd:string) AnnotationAssertion( "MESH:D017486"^^xsd:string) AnnotationAssertion( "RDO:0004710"^^xsd:string) AnnotationAssertion( "Acneiform Eruption"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001519"^^xsd:string) AnnotationAssertion(rdfs:label "Acneiform Eruptions"^^xsd:string) SubClassOf( ) # Class: (Symmetric Acroleukopathy) AnnotationAssertion( "MIM:102000"^^xsd:string) AnnotationAssertion( "MESH:C566322"^^xsd:string) AnnotationAssertion( "MONDO:0007049"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001520"^^xsd:string) AnnotationAssertion(rdfs:label "Symmetric Acroleukopathy"^^xsd:string) SubClassOf( ) # Class: (Subdural Hematoma) AnnotationAssertion(Annotation( "MESH:D006408"^^xsd:string) "Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."^^xsd:string) AnnotationAssertion( "MESH:D006408"^^xsd:string) AnnotationAssertion( "Subdural Hemorrhage"^^xsd:string) AnnotationAssertion( "Subdural Hemorrhages"^^xsd:string) AnnotationAssertion( "Traumatic Subdural Hematoma"^^xsd:string) AnnotationAssertion( "subdural hematomas"^^xsd:string) AnnotationAssertion( "traumatic subdural hematomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001521"^^xsd:string) AnnotationAssertion(rdfs:label "Subdural Hematoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Symptom Flare Up) AnnotationAssertion(Annotation( "MESH:D000067251"^^xsd:string) "A transient exacerbation of symptoms of an existing disease or condition."^^xsd:string) AnnotationAssertion( "MESH:D000067251"^^xsd:string) AnnotationAssertion( "Acute Symptom Flare"^^xsd:string) AnnotationAssertion( "Acute Symptom Flares"^^xsd:string) AnnotationAssertion( "Symptom Flare-ups"^^xsd:string) AnnotationAssertion( "Symptom Flareup"^^xsd:string) AnnotationAssertion( "Symptom Flareups"^^xsd:string) AnnotationAssertion( "Symptom Flaring Up"^^xsd:string) AnnotationAssertion( "Symptom Flaring Ups"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001522"^^xsd:string) AnnotationAssertion(rdfs:label "Symptom Flare Up"^^xsd:string) SubClassOf( ) # Class: (Familial Multiple Coagulation Factor Deficiency IV) AnnotationAssertion( "MIM:134430"^^xsd:string) AnnotationAssertion( "MESH:C565025"^^xsd:string) AnnotationAssertion( "FMFD IV"^^xsd:string) AnnotationAssertion( "Factor VII and Factor VIII, Combined Deficiency"^^xsd:string) AnnotationAssertion( "MCFD4"^^xsd:string) AnnotationAssertion( "Multiple Coagulation Factor Deficiency IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001523"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Coagulation Factor Deficiency IV"^^xsd:string) SubClassOf( ) # Class: (Kyphomelic Dysplasia) AnnotationAssertion( "MIM:211350"^^xsd:string) AnnotationAssertion( "MESH:C538128"^^xsd:string) AnnotationAssertion( "congenital bowing with short bones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001524"^^xsd:string) AnnotationAssertion(rdfs:label "Kyphomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types, 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-18T12:39:58Z"^^xsd:string) AnnotationAssertion( "MIM:618780"^^xsd:string) AnnotationAssertion( "CHTD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001525"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Scapuloperoneal Muscular Dystrophy) AnnotationAssertion( "MIM:300695"^^xsd:string) AnnotationAssertion( "GARD:7608"^^xsd:string) AnnotationAssertion( "MESH:C567481"^^xsd:string) AnnotationAssertion( "MONDO:0010400"^^xsd:string) AnnotationAssertion( "ORDO:431272"^^xsd:string) AnnotationAssertion( "SPM"^^xsd:string) AnnotationAssertion( "Scapuloperoneal Myopathy, FHL1-Related"^^xsd:string) AnnotationAssertion( "X-Linked Dominant Scapuloperoneal Myopathy"^^xsd:string) AnnotationAssertion( "X-linked SPMD"^^xsd:string) AnnotationAssertion( "X-linked scapuloperoneal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001526"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Scapuloperoneal Muscular Dystrophy"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypomyelinating Neuropathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-09T10:52:51Z"^^xsd:string) AnnotationAssertion( "MIM:PS605253"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001527"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypomyelinating Neuropathy"^^xsd:string) SubClassOf( ) # Class: (ARTERIAL DISSECTION) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000059"^^xsd:string) AnnotationAssertion( "NCI:C99704"^^xsd:string) AnnotationAssertion( "RDO:9005210"^^xsd:string) AnnotationAssertion( "cervical artery dissection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PREDISPOSITION TO DISSECTION"^^xsd:string) AnnotationAssertion( "DOID:9001528"^^xsd:string) AnnotationAssertion(rdfs:label "ARTERIAL DISSECTION"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance) AnnotationAssertion( "MIM:612947"^^xsd:string) AnnotationAssertion( "MESH:C567849"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001529"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Succinyl-CoA:3-oxoacid CoA transferase deficiency) AnnotationAssertion( "MIM:245050"^^xsd:string) AnnotationAssertion( "MESH:C537527"^^xsd:string) AnnotationAssertion( "3-oxoacid CoA transferase deficiency"^^xsd:string) AnnotationAssertion( "Ketoacidosis due to SCOT deficiency"^^xsd:string) AnnotationAssertion( "SCOT deficiency"^^xsd:string) AnnotationAssertion( "SCOTD"^^xsd:string) AnnotationAssertion( "Succinyl-Coa 3-Oxoacid Transferase Deficiency"^^xsd:string) AnnotationAssertion( "Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency"^^xsd:string) AnnotationAssertion( "succinyl-CoA:acetoacetate transferase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001530"^^xsd:string) AnnotationAssertion(rdfs:label "Succinyl-CoA:3-oxoacid CoA transferase deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma) AnnotationAssertion( "MIM:107550"^^xsd:string) AnnotationAssertion( "MESH:C566271"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001532"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Flatulence) AnnotationAssertion(Annotation( "MESH:D005414"^^xsd:string) "Production or presence of gas in the gastrointestinal tract which may be expelled through the anus."^^xsd:string) AnnotationAssertion( "EFO:0009669"^^xsd:string) AnnotationAssertion( "MESH:D005414"^^xsd:string) AnnotationAssertion( "Flatus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001533"^^xsd:string) AnnotationAssertion(rdfs:label "Flatulence"^^xsd:string) SubClassOf( ) # Class: (Congenital Amputation) AnnotationAssertion( "MESH:C565682"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001534"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Amputation"^^xsd:string) SubClassOf( ) # Class: (Cytophagaceae Infections) AnnotationAssertion(Annotation( "MESH:D045827"^^xsd:string) "Infections with bacteria of the family CYTOPHAGACEAE."^^xsd:string) AnnotationAssertion( "MESH:D045827"^^xsd:string) AnnotationAssertion( "Cytophagaceae Infection"^^xsd:string) AnnotationAssertion( "Flexibacteraceae Infection"^^xsd:string) AnnotationAssertion( "Flexibacteraceae Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001535"^^xsd:string) AnnotationAssertion(rdfs:label "Cytophagaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Pseudo-TORCH Syndrome 2) AnnotationAssertion(Annotation( "MIM:617397"^^xsd:string) "An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617397"^^xsd:string) AnnotationAssertion( "PTORCH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001536"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudo-TORCH Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Presumed Ocular Histoplasmosis Syndrome) AnnotationAssertion( "A triad of symptoms including discrete atrophic choroidal scars in the macula or midperiphery known as histo spots, peripapillary atrophy, and choroidal neovascularization. The presumed association with histoplasmosis is mostly due to overlapping epidemiology."^^xsd:string) AnnotationAssertion( "RDO:9000076"^^xsd:string) AnnotationAssertion( "POHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001537"^^xsd:string) AnnotationAssertion(rdfs:label "Presumed Ocular Histoplasmosis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 9) AnnotationAssertion( "RDO:9001629"^^xsd:string) AnnotationAssertion( "MIM:616503"^^xsd:string) AnnotationAssertion( "LCCS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001538"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Stickler Syndrome, Type IV) AnnotationAssertion( "MIM:614134"^^xsd:string) AnnotationAssertion( "COL9A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL9A1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C565177"^^xsd:string) AnnotationAssertion( "STICKLER SYNDROME, RECESSIVE"^^xsd:string) AnnotationAssertion( "STICKLER SYNDROME, TYPE 4"^^xsd:string) AnnotationAssertion( "STL4"^^xsd:string) AnnotationAssertion( "Stickler Syndrome, Autosomal Recessive, COL9A1-Related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001539"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler Syndrome, Type IV"^^xsd:string) SubClassOf( ) # Class: (Snijders Blok-Campeau Syndrome) AnnotationAssertion( "Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable. SNIBCPS is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-28T16:02:03Z"^^xsd:string) AnnotationAssertion( "EFO:0010643"^^xsd:string) AnnotationAssertion( "MIM:618205"^^xsd:string) AnnotationAssertion( "CHD3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "IDDMSF"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES"^^xsd:string) AnnotationAssertion( "SNIBCPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001540"^^xsd:string) AnnotationAssertion(rdfs:label "Snijders Blok-Campeau Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2) AnnotationAssertion( "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618321"^^xsd:string) AnnotationAssertion( "PEBEL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001541"^^xsd:string) AnnotationAssertion(rdfs:label "Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2"^^xsd:string) SubClassOf( ) # Class: (Albuminuria) AnnotationAssertion(Annotation( "MESH:D000419"^^xsd:string) "The presence of albumin in the urine, an indicator of KIDNEY DISEASES."^^xsd:string) AnnotationAssertion( "EFO:0004285"^^xsd:string) AnnotationAssertion( "MESH:D000419"^^xsd:string) AnnotationAssertion( "Albuminurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001542"^^xsd:string) AnnotationAssertion(rdfs:label "Albuminuria"^^xsd:string) SubClassOf( ) # Class: (Combined Oxidative Phosphorylation Deficiency 58) AnnotationAssertion(Annotation( "MIM:620451"^^xsd:string) "An autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect. Caused by homozygous or compound heterozygous mutation in the TEFM gene on chromosome 17q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-28T11:37:59Z"^^xsd:string) AnnotationAssertion( "MIM:620451"^^xsd:string) AnnotationAssertion( "COXPD58"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001543"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Oxidative Phosphorylation Deficiency 58"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Flood Factor Deficiency) AnnotationAssertion( "MIM:136150"^^xsd:string) AnnotationAssertion( "MESH:C565009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001545"^^xsd:string) AnnotationAssertion(rdfs:label "Flood Factor Deficiency"^^xsd:string) SubClassOf( ) # Class: (Moyamoya Disease 3) AnnotationAssertion( "MIM:608796"^^xsd:string) AnnotationAssertion( "MESH:C536993"^^xsd:string) AnnotationAssertion( "MYMY3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001546"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 3"^^xsd:string) SubClassOf( ) # Class: (Tibial Fractures) AnnotationAssertion(Annotation( "MESH:D013978"^^xsd:string) "Fractures of the TIBIA."^^xsd:string) AnnotationAssertion( "EFO:0003944"^^xsd:string) AnnotationAssertion( "MESH:D013978"^^xsd:string) AnnotationAssertion( "Segond Fracture"^^xsd:string) AnnotationAssertion( "Tibial Fracture"^^xsd:string) AnnotationAssertion( "Tillaux Fracture"^^xsd:string) AnnotationAssertion( "Toddler Fracture"^^xsd:string) AnnotationAssertion( "Toddler's Fracture"^^xsd:string) AnnotationAssertion( "Toddlers Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001547"^^xsd:string) AnnotationAssertion(rdfs:label "Tibial Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism, Type IID) AnnotationAssertion( "RDO:9000658"^^xsd:string) AnnotationAssertion( "MIM:614495"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPERKALEMIC HYPERTENSION"^^xsd:string) AnnotationAssertion( "FHHT"^^xsd:string) AnnotationAssertion( "KLHL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PHA2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001548"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism, Type IID"^^xsd:string) SubClassOf( ) # Class: (Aniridia 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617142"^^xsd:string) AnnotationAssertion( "AN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001549"^^xsd:string) AnnotationAssertion(rdfs:label "Aniridia 3"^^xsd:string) SubClassOf( ) # Class: (Bethlem Myopathy 1A) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "COL6A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL6A1-related disorder"^^xsd:string) AnnotationAssertion( "MIM:158810"^^xsd:string) AnnotationAssertion( "MONDO:0024530"^^xsd:string) AnnotationAssertion( "NCI:C126688"^^xsd:string) AnnotationAssertion( "BTHLM1"^^xsd:string) AnnotationAssertion( "BTHLM1A"^^xsd:string) AnnotationAssertion( "Bethlem myopathy 1"^^xsd:string) AnnotationAssertion( "Bethlem myopathy 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001550"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem Myopathy 1A"^^xsd:string) SubClassOf( ) # Class: (Atrial Ectopic Tachycardia) AnnotationAssertion(Annotation( "MESH:D013612"^^xsd:string) "Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer."^^xsd:string) AnnotationAssertion( "MESH:D013612"^^xsd:string) AnnotationAssertion( "Atrial Ectopic Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001551"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Ectopic Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Acanthamoeba Keratitis) AnnotationAssertion(Annotation( "MESH:D015823"^^xsd:string) "Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness."^^xsd:string) AnnotationAssertion( "EFO:0007126"^^xsd:string) AnnotationAssertion( "MESH:D015823"^^xsd:string) AnnotationAssertion( "Acanthamoeba Keratitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001552"^^xsd:string) AnnotationAssertion(rdfs:label "Acanthamoeba Keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spinal Cord Compression) AnnotationAssertion(Annotation( "MESH:D013117"^^xsd:string) "Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence."^^xsd:string) AnnotationAssertion( "EFO:1001845"^^xsd:string) AnnotationAssertion( "MESH:D013117"^^xsd:string) AnnotationAssertion( "Compressive Myelopathy"^^xsd:string) AnnotationAssertion( "Conus Medullaris Syndrome"^^xsd:string) AnnotationAssertion( "Conus Medullaris Syndromes"^^xsd:string) AnnotationAssertion( "Extramedullary Spinal Cord Compression"^^xsd:string) AnnotationAssertion( "Spinal Cord Compressions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001553"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Compression"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Postaxial Polydactyly, Type A3) AnnotationAssertion( "MIM:607324"^^xsd:string) AnnotationAssertion( "RDO:0013497"^^xsd:string) AnnotationAssertion( "MESH:C564590"^^xsd:string) AnnotationAssertion( "PAPA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001555"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A3"^^xsd:string) SubClassOf( ) # Class: (Neonatal Inflammatory Skin and Bowel Disease 1) AnnotationAssertion( "MIM:614328"^^xsd:string) AnnotationAssertion( "ADAM17-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NISBD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001556"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Inflammatory Skin and Bowel Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 21 Monosomy) AnnotationAssertion( "MESH:C537108"^^xsd:string) AnnotationAssertion( "Monosomy 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001557"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 21 Monosomy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aphakic Bullous Keratopathy) AnnotationAssertion( "A blister-like swelling of the cornea in an aphakic eye, that is an eye without a lens."^^xsd:string) AnnotationAssertion( "ABK"^^xsd:string) AnnotationAssertion( "Aphakic corneal edema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001559"^^xsd:string) AnnotationAssertion(rdfs:label "Aphakic Bullous Keratopathy"^^xsd:string) SubClassOf( ) # Class: (Somatic Sebaceous Tumors) AnnotationAssertion( "MIM:153245"^^xsd:string) AnnotationAssertion( "MESH:C563610"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001560"^^xsd:string) AnnotationAssertion(rdfs:label "Somatic Sebaceous Tumors"^^xsd:string) SubClassOf( ) # Class: (Pseudovaginal Perineoscrotal Hypospadias) AnnotationAssertion( "MIM:264600"^^xsd:string) AnnotationAssertion( "MESH:C535830"^^xsd:string) AnnotationAssertion( "RDO:0001155"^^xsd:string) AnnotationAssertion( "3-OXO-5 ALPHA-STEROID DELTA 4-DEHYDROGENASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "5-Alpha Reductase Deficiency"^^xsd:string) AnnotationAssertion( "Familial Incomplete Male Pseudohermaphroditism, Type 2"^^xsd:string) AnnotationAssertion( "Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency"^^xsd:string) AnnotationAssertion( "PPSH"^^xsd:string) AnnotationAssertion( "Steroid 5-Alpha-Reductase Deficiency"^^xsd:string) AnnotationAssertion( "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001561"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudovaginal Perineoscrotal Hypospadias"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ring Chromosome 4 Syndrome) AnnotationAssertion( "MESH:C537636"^^xsd:string) AnnotationAssertion( "RDO:0003512"^^xsd:string) AnnotationAssertion( "Ring 4, Chromosome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001562"^^xsd:string) AnnotationAssertion(rdfs:label "Ring Chromosome 4 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Monocyte Chemotactic Disorder) AnnotationAssertion( "MIM:252250"^^xsd:string) AnnotationAssertion( "MESH:C565371"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001563"^^xsd:string) AnnotationAssertion(rdfs:label "Monocyte Chemotactic Disorder"^^xsd:string) SubClassOf( ) # Class: (Vibrio Infections) AnnotationAssertion(Annotation( "MESH:D014735"^^xsd:string) "Infections with bacteria of the genus VIBRIO."^^xsd:string) AnnotationAssertion( "EFO:1001235"^^xsd:string) AnnotationAssertion( "MESH:D014735"^^xsd:string) AnnotationAssertion( "Vibrio Infection"^^xsd:string) AnnotationAssertion( "Vibrio infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001564"^^xsd:string) AnnotationAssertion(rdfs:label "Vibrio Infections"^^xsd:string) SubClassOf( ) # Class: (Unilateral Adactylia) AnnotationAssertion( "MIM:102650"^^xsd:string) AnnotationAssertion( "MESH:C562417"^^xsd:string) AnnotationAssertion( "Unilateral Terminal Transverse Defects of Hand"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001565"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Adactylia"^^xsd:string) SubClassOf( ) # Class: (Atrophia Maculosa Varioliformis Cutis, Familial) AnnotationAssertion( "MIM:601341"^^xsd:string) AnnotationAssertion( "MESH:C563349"^^xsd:string) AnnotationAssertion( "AMVC"^^xsd:string) AnnotationAssertion( "Varioliform Macular Atrophy of the Skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001566"^^xsd:string) AnnotationAssertion(rdfs:label "Atrophia Maculosa Varioliformis Cutis, Familial"^^xsd:string) SubClassOf( ) # Class: (Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency) AnnotationAssertion( "RDO:0014036"^^xsd:string) AnnotationAssertion( "MESH:C565387"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001567"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Familial Antiphospholipid Syndrome) AnnotationAssertion( "MIM:107320"^^xsd:string) AnnotationAssertion( "MESH:C531622"^^xsd:string) AnnotationAssertion( "Lupus anticoagulant, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001568"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Antiphospholipid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Epidermodysplasia Verruciformis 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618307"^^xsd:string) AnnotationAssertion( "EV4"^^xsd:string) AnnotationAssertion( "epidermodysplasia verruciformis, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001570"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis 4"^^xsd:string) SubClassOf( ) # Class: (Tooth Mobility) AnnotationAssertion(Annotation( "MESH:D014086"^^xsd:string) "Horizontal and, to a lesser degree, axial movement of a tooth in response to normal forces, as in occlusion. It refers also to the movability of a tooth resulting from loss of all or a portion of its attachment and supportive apparatus, as seen in periodontitis, occlusal trauma, and periodontosis. (From Jablonski, Dictionary of Dentistry, 1992, p507 & Boucher's Clinical Dental Terminology, 4th ed, p313)"^^xsd:string) AnnotationAssertion( "MESH:D014086"^^xsd:string) AnnotationAssertion( "Tooth Mobilities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001571"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Mobility"^^xsd:string) SubClassOf( ) # Class: (Hairy Palms and Soles) AnnotationAssertion( "MIM:139650"^^xsd:string) AnnotationAssertion( "MESH:C535620"^^xsd:string) AnnotationAssertion( "Circumscribed hairy dysembryoplasia of palms"^^xsd:string) AnnotationAssertion( "Hairy cutaneous malformations of palms and soles"^^xsd:string) AnnotationAssertion( "Thickened hair-bearing skin on the palms of both hands"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001572"^^xsd:string) AnnotationAssertion(rdfs:label "Hairy Palms and Soles"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Experimental Liver Cirrhosis) AnnotationAssertion(Annotation( "MESH:D008106"^^xsd:string) "Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS."^^xsd:string) AnnotationAssertion( "RDO:0006022"^^xsd:string) AnnotationAssertion( "MESH:D008106"^^xsd:string) AnnotationAssertion( "Experimental Hepatic Cirrhosis"^^xsd:string) AnnotationAssertion( "Experimental Hepatic Fibrosis"^^xsd:string) AnnotationAssertion( "Experimental Liver Cirrhoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001573"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Liver Cirrhosis"^^xsd:string) SubClassOf( ) # Class: (Crystalline Aculeiform Cataract) AnnotationAssertion( "RDO:0014601"^^xsd:string) AnnotationAssertion( "MESH:C566162"^^xsd:string) AnnotationAssertion( "aculeiform cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001574"^^xsd:string) AnnotationAssertion(rdfs:label "Crystalline Aculeiform Cataract"^^xsd:string) SubClassOf( ) # Class: (IRIS COLOBOMA) AnnotationAssertion(Annotation( "DOID:12270"^^xsd:string) "This is an eye disease characterized by missing pieces of tissue in structures that form the iris."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-12T12:03:37Z"^^xsd:string) AnnotationAssertion( "HP:0000612"^^xsd:string) AnnotationAssertion( "MP:0010714"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001575"^^xsd:string) AnnotationAssertion(rdfs:label "IRIS COLOBOMA"^^xsd:string) SubClassOf( ) # Class: (CARDIAC VALVULAR DYSPLASIA 2) AnnotationAssertion(Annotation( "MIM:620067"^^xsd:string) "This disease is characterized primarily by congenital stenosis and insufficiency of the semilunar valves."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-05T11:57:47Z"^^xsd:string) AnnotationAssertion( "MIM:620067"^^xsd:string) AnnotationAssertion( "CVDP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001576"^^xsd:string) AnnotationAssertion(rdfs:label "CARDIAC VALVULAR DYSPLASIA 2"^^xsd:string) SubClassOf( ) # Class: (Infantile Hypertrophic Pyloric Stenosis 2) AnnotationAssertion( "MIM:610260"^^xsd:string) AnnotationAssertion( "MESH:C565208"^^xsd:string) AnnotationAssertion( "IHPS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001577"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypertrophic Pyloric Stenosis 2"^^xsd:string) SubClassOf( ) # Class: (Alcohol Induced Encephalopathy) AnnotationAssertion( "MESH:C538669"^^xsd:string) AnnotationAssertion( "Korsakoff's amnesic syndrome"^^xsd:string) AnnotationAssertion( "Transketolase defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001578"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol Induced Encephalopathy"^^xsd:string) SubClassOf( ) # Class: (Neurogenic Inflammation) AnnotationAssertion(Annotation( "MESH:D020078"^^xsd:string) "Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury."^^xsd:string) AnnotationAssertion( "MESH:D020078"^^xsd:string) AnnotationAssertion( "Neurogenic Inflammations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001579"^^xsd:string) AnnotationAssertion(rdfs:label "Neurogenic Inflammation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cyclic Vomiting Syndrome) AnnotationAssertion( "MIM:500007"^^xsd:string) AnnotationAssertion( "MESH:C536228"^^xsd:string) AnnotationAssertion( "cyclical vomiting"^^xsd:string) AnnotationAssertion( "cyclical vomiting syndrome"^^xsd:string) AnnotationAssertion( "familial cyclic vomiting syndrome"^^xsd:string) AnnotationAssertion( "periodic vomiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001580"^^xsd:string) AnnotationAssertion(rdfs:label "Cyclic Vomiting Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Constipation) AnnotationAssertion( "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-01T12:19:25Z"^^xsd:string) AnnotationAssertion( "DOID:2089"^^xsd:string) AnnotationAssertion( "ICD10CM:K59.0"^^xsd:string) AnnotationAssertion( "ICD9CM:564.0"^^xsd:string) AnnotationAssertion( "MESH:D003248"^^xsd:string) AnnotationAssertion( "NCI:C37930"^^xsd:string) AnnotationAssertion( "Colonic Inertia"^^xsd:string) AnnotationAssertion( "Dyschezia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001581"^^xsd:string) AnnotationAssertion(rdfs:comment "DO: reviewed 10/2022 & determined to be a symptom"^^xsd:string) AnnotationAssertion(rdfs:label "Constipation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bohring Syndrome) AnnotationAssertion( "MIM:605039"^^xsd:string) AnnotationAssertion( "ASXL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537419"^^xsd:string) AnnotationAssertion( "BOPS"^^xsd:string) AnnotationAssertion( "Bohring-Opitz syndrome"^^xsd:string) AnnotationAssertion( "C-like syndrome"^^xsd:string) AnnotationAssertion( "Opitz trigonocephaly-like syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001582"^^xsd:string) AnnotationAssertion(rdfs:label "Bohring Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Melanosis) AnnotationAssertion(Annotation( "MESH:D008548"^^xsd:string) "Disorders of increased melanin pigmentation that develop without preceding inflammatory disease."^^xsd:string) AnnotationAssertion( "EFO:0003963"^^xsd:string) AnnotationAssertion( "MESH:D008548"^^xsd:string) AnnotationAssertion( "Chloasma"^^xsd:string) AnnotationAssertion( "Chloasmas"^^xsd:string) AnnotationAssertion( "Freckle"^^xsd:string) AnnotationAssertion( "Freckles"^^xsd:string) AnnotationAssertion( "Melanism"^^xsd:string) AnnotationAssertion( "Melanoses"^^xsd:string) AnnotationAssertion( "Melasma"^^xsd:string) AnnotationAssertion( "Melasmas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001583"^^xsd:string) AnnotationAssertion(rdfs:label "Melanosis"^^xsd:string) SubClassOf( ) # Class: (Cerebral Sarcoma) AnnotationAssertion( "MIM:117600"^^xsd:string) AnnotationAssertion( "MESH:C537946"^^xsd:string) AnnotationAssertion( "Familial cerebral sarcomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001584"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Sarcoma"^^xsd:string) SubClassOf( ) # Class: (Intraventricular Hemorrhage) AnnotationAssertion( "Bleeding into the ventricular system of the brain."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001270"^^xsd:string) AnnotationAssertion( "IVH"^^xsd:string) AnnotationAssertion( "intraventricular bleeding"^^xsd:string) AnnotationAssertion( "ventricular hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001585"^^xsd:string) AnnotationAssertion(rdfs:label "Intraventricular Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Experimental Liver Neoplasms) AnnotationAssertion(Annotation( "MESH:D008114"^^xsd:string) "Experimentally induced tumors of the LIVER."^^xsd:string) AnnotationAssertion( "MESH:D008114"^^xsd:string) AnnotationAssertion( "Experimental Hepatomas"^^xsd:string) AnnotationAssertion( "Experimental Liver Neoplasm"^^xsd:string) AnnotationAssertion( "Morris Hepatoma"^^xsd:string) AnnotationAssertion( "Novikoff hepatoma"^^xsd:string) AnnotationAssertion( "experimental hepatoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001586"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Liver Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 1) AnnotationAssertion( "MIM:614675"^^xsd:string) AnnotationAssertion( "BMFF"^^xsd:string) AnnotationAssertion( "BMFS1"^^xsd:string) AnnotationAssertion( "BONE MARROW FAILURE, FAMILIAL"^^xsd:string) AnnotationAssertion( "SRP72-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001587"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Electric Injuries) AnnotationAssertion(Annotation( "MESH:D004556"^^xsd:string) "Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock."^^xsd:string) AnnotationAssertion( "MESH:D004556"^^xsd:string) AnnotationAssertion( "Accidental Electrocution"^^xsd:string) AnnotationAssertion( "Accidental Electrocutions"^^xsd:string) AnnotationAssertion( "Electric Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001588"^^xsd:string) AnnotationAssertion(rdfs:label "Electric Injuries"^^xsd:string) SubClassOf( ) # Class: (Feingold Syndrome 2) AnnotationAssertion( "MIM:614326"^^xsd:string) AnnotationAssertion( "FGLDS2"^^xsd:string) AnnotationAssertion( "brachydactyly with short stature and microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001589"^^xsd:string) AnnotationAssertion(rdfs:label "Feingold Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ciliary Motility Disorders) AnnotationAssertion(Annotation( "MESH:D002925"^^xsd:string) "Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms."^^xsd:string) AnnotationAssertion( "MESH:D002925"^^xsd:string) AnnotationAssertion( "ICS"^^xsd:string) AnnotationAssertion( "ciliary dyskinesia"^^xsd:string) AnnotationAssertion( "ciliary dyskinesias"^^xsd:string) AnnotationAssertion( "ciliary motility disorder"^^xsd:string) AnnotationAssertion( "immotile cilia syndrome"^^xsd:string) AnnotationAssertion( "immotile cilia syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001591"^^xsd:string) AnnotationAssertion(rdfs:label "Ciliary Motility Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pathological Protein Aggregation) AnnotationAssertion(Annotation( "MESH:D066263"^^xsd:string) "A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER'S DISEASE; PARKINSON'S DISEASE; HUNTINGTON'S DISEASE; and TYPE 2 DIABETES MELLITUS."^^xsd:string) AnnotationAssertion( "MESH:D066263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001592"^^xsd:string) AnnotationAssertion(rdfs:label "Pathological Protein Aggregation"^^xsd:string) SubClassOf( ) # Class: (Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:001683"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001593"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis"^^xsd:string) SubClassOf( ) # Class: (Paucibacillary Leprosy) AnnotationAssertion(Annotation( "MESH:D056005"^^xsd:string) "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy."^^xsd:string) AnnotationAssertion( "EFO:1001358"^^xsd:string) AnnotationAssertion( "MESH:D056005"^^xsd:string) AnnotationAssertion( "Borderline Tuberculoid"^^xsd:string) AnnotationAssertion( "Borderline Tuberculoids"^^xsd:string) AnnotationAssertion( "Indeterminate Tuberculoid"^^xsd:string) AnnotationAssertion( "Indeterminate Tuberculoids"^^xsd:string) AnnotationAssertion( "Paucibacillary Leprosies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001594"^^xsd:string) AnnotationAssertion(rdfs:label "Paucibacillary Leprosy"^^xsd:string) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 6) AnnotationAssertion( "RDO:9001626"^^xsd:string) AnnotationAssertion( "MIM:616248"^^xsd:string) AnnotationAssertion( "LCCS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001595"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T12:22:20Z"^^xsd:string) AnnotationAssertion( "PPP3CA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618265"^^xsd:string) AnnotationAssertion( "ACCIID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001596"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Odontoma) AnnotationAssertion(Annotation( "MESH:D009810"^^xsd:string) "A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)"^^xsd:string) AnnotationAssertion( "MESH:D009810"^^xsd:string) AnnotationAssertion( "Ameloblastic Fibro-odontoma"^^xsd:string) AnnotationAssertion( "Ameloblastic Fibro-odontomas"^^xsd:string) AnnotationAssertion( "Compound Odontoma"^^xsd:string) AnnotationAssertion( "Compound Odontomas"^^xsd:string) AnnotationAssertion( "Fibro Odontoma"^^xsd:string) AnnotationAssertion( "Fibro-Odontomas"^^xsd:string) AnnotationAssertion( "Fibroodontoma"^^xsd:string) AnnotationAssertion( "Fibroodontomas"^^xsd:string) AnnotationAssertion( "Odontomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001598"^^xsd:string) AnnotationAssertion(rdfs:label "Odontoma"^^xsd:string) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 6) AnnotationAssertion( "Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients. OOMD6 is caused by homozygous mutation in the ZP2 gene on chromosome 16p12. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-12T11:52:33Z"^^xsd:string) AnnotationAssertion( "MIM:618353"^^xsd:string) AnnotationAssertion( "OOMD6"^^xsd:string) AnnotationAssertion( "OZEMA6"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001599"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 6"^^xsd:string) SubClassOf( ) # Class: (Wounds and Injuries) AnnotationAssertion(Annotation( "MESH:D014947"^^xsd:string) "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity."^^xsd:string) AnnotationAssertion( "EFO:0000546"^^xsd:string) AnnotationAssertion( "EFO:0009623"^^xsd:string) AnnotationAssertion( "MESH:D014947"^^xsd:string) AnnotationAssertion( "Injuries"^^xsd:string) AnnotationAssertion( "Injuries, Wounds"^^xsd:string) AnnotationAssertion( "Injury"^^xsd:string) AnnotationAssertion( "Injury and Wounds"^^xsd:string) AnnotationAssertion( "Research Related Injuries"^^xsd:string) AnnotationAssertion( "Research-Related Injury"^^xsd:string) AnnotationAssertion( "Trauma"^^xsd:string) AnnotationAssertion( "Traumas"^^xsd:string) AnnotationAssertion( "Wound"^^xsd:string) AnnotationAssertion( "Wounds"^^xsd:string) AnnotationAssertion( "Wounds, Injury"^^xsd:string) AnnotationAssertion( "nose injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001600"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Wounds and Injuries"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pulmonary Adenomatosis) AnnotationAssertion(Annotation( "MESH:D018255"^^xsd:string) "A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001258"^^xsd:string) AnnotationAssertion( "MESH:D018255"^^xsd:string) AnnotationAssertion( "Pulmonary Adenomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001602"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Adenomatosis"^^xsd:string) SubClassOf( ) # Class: (Hypertriglyceridemia, Transient Infantile) AnnotationAssertion( "MIM:614480"^^xsd:string) AnnotationAssertion( "MONDO:0013771"^^xsd:string) AnnotationAssertion( "ORDO:300293"^^xsd:string) AnnotationAssertion( "GPD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HTGTI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001603"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertriglyceridemia, Transient Infantile"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sexual Infantilism) AnnotationAssertion(Annotation( "MESH:D050035"^^xsd:string) "The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY."^^xsd:string) AnnotationAssertion( "MESH:D050035"^^xsd:string) AnnotationAssertion( "RDO:0007565"^^xsd:string) AnnotationAssertion( "Genital Infantilism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001604"^^xsd:string) AnnotationAssertion(rdfs:label "Sexual Infantilism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A2) AnnotationAssertion( "MIM:602085"^^xsd:string) AnnotationAssertion( "RDO:0014900"^^xsd:string) AnnotationAssertion( "MESH:C566585"^^xsd:string) AnnotationAssertion( "Papa2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001605"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A2"^^xsd:string) SubClassOf( ) # Class: (Acute Anterior Uveitis) AnnotationAssertion( "Having a sudden onset, sharp rise, and short course of anterior uveitis."^^xsd:string) AnnotationAssertion( "AAU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001606"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Anterior Uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypopharyngeal Neoplasms) AnnotationAssertion(Annotation( "MESH:D007012"^^xsd:string) "Tumors or cancer of the HYPOPHARYNX."^^xsd:string) AnnotationAssertion( "MESH:D007012"^^xsd:string) AnnotationAssertion( "NCI:C3127"^^xsd:string) AnnotationAssertion( "hypopharyngeal neoplasm"^^xsd:string) AnnotationAssertion( "hypopharyngeal tumor"^^xsd:string) AnnotationAssertion( "hypopharynx neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001607"^^xsd:string) AnnotationAssertion(rdfs:label "Hypopharyngeal Neoplasms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopathy due to Malate-Aspartate Shuttle Defect) AnnotationAssertion( "MIM:254960"^^xsd:string) AnnotationAssertion( "MESH:C564973"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001609"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy due to Malate-Aspartate Shuttle Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome) AnnotationAssertion( "MIM:617241"^^xsd:string) AnnotationAssertion( "LICS"^^xsd:string) AnnotationAssertion( "lung disease, immunodeficiency, and chromosome breakage syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001610"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Urogenital Abnormalities) AnnotationAssertion(Annotation( "MESH:D014564"^^xsd:string) "Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female."^^xsd:string) AnnotationAssertion( "MESH:C564424"^^xsd:string) AnnotationAssertion( "MIM:305690"^^xsd:string) AnnotationAssertion( "MESH:D014564"^^xsd:string) AnnotationAssertion( "Genitourinary Abnormalities"^^xsd:string) AnnotationAssertion( "Genitourinary Abnormality"^^xsd:string) AnnotationAssertion( "INHERITED GENITOURINARY TRACT ANOMALIES"^^xsd:string) AnnotationAssertion( "genitourinary tract anomalies"^^xsd:string) AnnotationAssertion( "urogenital abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001611"^^xsd:string) AnnotationAssertion(rdfs:label "Urogenital Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spermatogenic Failure 84) AnnotationAssertion(Annotation( "MIM:620409"^^xsd:string) "A male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including irregular-caliber, bent, coiled, absent, or short tails, resulting in severely reduced motility. Caused by homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-06T12:53:03Z"^^xsd:string) AnnotationAssertion( "MIM:620409"^^xsd:string) AnnotationAssertion( "SPGF84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001613"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 84"^^xsd:string) SubClassOf( ) # Class: (Chronic Tubulointerstitial Nephropathy) AnnotationAssertion( "MIM:551200"^^xsd:string) AnnotationAssertion( "MESH:C564016"^^xsd:string) AnnotationAssertion( "tubulointerstitial nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001614"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Tubulointerstitial Nephropathy"^^xsd:string) SubClassOf( ) # Class: (Maxillary Sinus Neoplasms) AnnotationAssertion(Annotation( "MESH:D008444"^^xsd:string) "Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T07:56:39Z"^^xsd:string) AnnotationAssertion( "EFO:1001035"^^xsd:string) AnnotationAssertion( "MESH:D008444"^^xsd:string) AnnotationAssertion( "NCI:C3219"^^xsd:string) AnnotationAssertion( "maxillary sinus neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of maxillary sinus"^^xsd:string) AnnotationAssertion( "tumor of maxillofacial sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001615"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillary Sinus Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Port-Wine Stain) AnnotationAssertion(Annotation( "MESH:D019339"^^xsd:string) "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)"^^xsd:string) AnnotationAssertion( "MESH:D019339"^^xsd:string) AnnotationAssertion( "RDO:0001132"^^xsd:string) AnnotationAssertion( "Nevus Flammeus"^^xsd:string) AnnotationAssertion( "Port-Wine Stains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001616"^^xsd:string) AnnotationAssertion(rdfs:label "Port-Wine Stain"^^xsd:string) SubClassOf( ) # Class: (Congenital Nephrotic Syndrome with or without Ocular Abnormalities) AnnotationAssertion( "RDO:0012970"^^xsd:string) AnnotationAssertion( "MESH:C563805"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001617"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Nephrotic Syndrome with or without Ocular Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Deafness with Total Albinism) AnnotationAssertion( "MIM:220900"^^xsd:string) AnnotationAssertion( "MESH:C565646"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001619"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Deafness with Total Albinism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukoaraiosis) AnnotationAssertion(Annotation( "MESH:D049292"^^xsd:string) "Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS."^^xsd:string) AnnotationAssertion( "MESH:D049292"^^xsd:string) AnnotationAssertion( "Leukoaraioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001620"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoaraiosis"^^xsd:string) SubClassOf( ) # Class: (Focal Segmental Glomerulosclerosis 4) AnnotationAssertion( "MIM:612551"^^xsd:string) AnnotationAssertion( "FSGS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Focal Segmental Glomerulosclerosis 4, Susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9001621"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Segmental Glomerulosclerosis 4"^^xsd:string) SubClassOf( ) # Class: (Chiari-Frommel Syndrome) AnnotationAssertion(Annotation( "MESH:D002640"^^xsd:string) "A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING."^^xsd:string) AnnotationAssertion( "MESH:D002640"^^xsd:string) AnnotationAssertion( "Frommel disease"^^xsd:string) AnnotationAssertion( "Frommel's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001622"^^xsd:string) AnnotationAssertion(rdfs:label "Chiari-Frommel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (JOINT LAXITY, SHORT STATURE, AND MYOPIA) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617662"^^xsd:string) AnnotationAssertion( "GZF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "JLSM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001623"^^xsd:string) AnnotationAssertion(rdfs:label "JOINT LAXITY, SHORT STATURE, AND MYOPIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Spermatogenic Failure 4) AnnotationAssertion(Annotation( "MIM:301077"^^xsd:string) "Characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Caused by hemizygous mutation in the GCNA gene on chromosome Xq13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-12T14:06:08Z"^^xsd:string) AnnotationAssertion( "MIM:301077"^^xsd:string) AnnotationAssertion( "SPGFX4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001624"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Spermatogenic Failure 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 17 Deletion) AnnotationAssertion( "MESH:C538045"^^xsd:string) AnnotationAssertion( "17p- Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 17p Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Deletion 17p Syndrome"^^xsd:string) AnnotationAssertion( "Interstitial deletion 17p"^^xsd:string) AnnotationAssertion( "Partial Monosomy 17p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001626"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17 Deletion"^^xsd:string) SubClassOf( ) # Class: (Pathologic Constriction) AnnotationAssertion(Annotation( "MESH:D003251"^^xsd:string) "The condition of an anatomical structure's being constricted beyond normal dimensions."^^xsd:string) AnnotationAssertion( "EFO:0006818"^^xsd:string) AnnotationAssertion( "MESH:D003251"^^xsd:string) AnnotationAssertion( "Stenoses"^^xsd:string) AnnotationAssertion( "Stenosis"^^xsd:string) AnnotationAssertion( "pathologic constrictions"^^xsd:string) AnnotationAssertion( "pathological constriction"^^xsd:string) AnnotationAssertion( "stricture"^^xsd:string) AnnotationAssertion( "strictures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001627"^^xsd:string) AnnotationAssertion(rdfs:label "Pathologic Constriction"^^xsd:string) SubClassOf( ) # Class: (Bilateral Atresia of External Auditory Canal with Congenital Vertical Talus) AnnotationAssertion( "MIM:108760"^^xsd:string) AnnotationAssertion( "MESH:C566245"^^xsd:string) AnnotationAssertion( "Atresia of External Auditory Canal and Conduction Deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001628"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Atresia of External Auditory Canal with Congenital Vertical Talus"^^xsd:string) SubClassOf( ) # Class: (5 Alpha Fluorouracil Toxicity) AnnotationAssertion( "MESH:C531667"^^xsd:string) AnnotationAssertion( "RDO:0000098"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001629"^^xsd:string) AnnotationAssertion(rdfs:label "5 Alpha Fluorouracil Toxicity"^^xsd:string) SubClassOf( ) # Class: (Allesthesia) AnnotationAssertion(Annotation( "MESH:D066190"^^xsd:string) "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus."^^xsd:string) AnnotationAssertion( "MESH:D066190"^^xsd:string) AnnotationAssertion( "RDO:0015991"^^xsd:string) AnnotationAssertion( "Allachesthesia"^^xsd:string) AnnotationAssertion( "Allachesthesias"^^xsd:string) AnnotationAssertion( "Allesthesias"^^xsd:string) AnnotationAssertion( "Allochiria"^^xsd:string) AnnotationAssertion( "Allochirias"^^xsd:string) AnnotationAssertion( "Alloesthesia"^^xsd:string) AnnotationAssertion( "Alloesthesias"^^xsd:string) AnnotationAssertion( "Dyschiria"^^xsd:string) AnnotationAssertion( "Dyschirias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001630"^^xsd:string) AnnotationAssertion(rdfs:label "Allesthesia"^^xsd:string) SubClassOf( ) # Class: (Hypochromic Microcytic Anemia with Iron Overload) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T12:43:52Z"^^xsd:string) AnnotationAssertion( "MESH:C567144"^^xsd:string) AnnotationAssertion( "MIM:PS206100"^^xsd:string) AnnotationAssertion( "microcytic anemia and hepatic iron overload"^^xsd:string) AnnotationAssertion( "microcytic anemia with liver iron overload"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001631"^^xsd:string) AnnotationAssertion(rdfs:label "Hypochromic Microcytic Anemia with Iron Overload"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 4, Trisomy 4q32.1-q32.2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T12:10:31Z"^^xsd:string) AnnotationAssertion( "MIM:613603"^^xsd:string) AnnotationAssertion( "Chromosome 4q32.1-q32.2 triplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001633"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Trisomy 4q32.1-q32.2"^^xsd:string) SubClassOf( ) # Class: (Meckel Syndrome 9) AnnotationAssertion( "MIM:614209"^^xsd:string) AnnotationAssertion( "MKS9"^^xsd:string) AnnotationAssertion( "Meckel Syndrome, Type 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001634"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel Syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 93) AnnotationAssertion(Annotation( "MIM:619705"^^xsd:string) "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-27T09:54:19Z"^^xsd:string) AnnotationAssertion( "MIM:619705"^^xsd:string) AnnotationAssertion( "IMD93"^^xsd:string) AnnotationAssertion( "immunodeficiency 93 and hypertrophic cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001635"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 93"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Darier Disease, Segmental) AnnotationAssertion( "MESH:C565126"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001636"^^xsd:string) AnnotationAssertion(rdfs:label "Darier Disease, Segmental"^^xsd:string) SubClassOf( ) # Class: (Malignant Neurogenic Muscular Atrophy) AnnotationAssertion( "MIM:158650"^^xsd:string) AnnotationAssertion( "MESH:C563559"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001637"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Neurogenic Muscular Atrophy"^^xsd:string) SubClassOf( ) # Class: (Seborrhea-Like Dermatitis with Psoriasiform Elements) AnnotationAssertion( "MIM:610227"^^xsd:string) AnnotationAssertion( "MESH:C565217"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001638"^^xsd:string) AnnotationAssertion(rdfs:label "Seborrhea-Like Dermatitis with Psoriasiform Elements"^^xsd:string) SubClassOf( ) # Class: (Knobloch Syndrome Type III) AnnotationAssertion( "MESH:C548031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001639"^^xsd:string) AnnotationAssertion(rdfs:label "Knobloch Syndrome Type III"^^xsd:string) SubClassOf( ) # Class: (X Chromosome, Duplication Xq13 1 q21 1) AnnotationAssertion( "MESH:C536753"^^xsd:string) AnnotationAssertion( "RDO:0002433"^^xsd:string) AnnotationAssertion( "Duplication Xq13 1 q21 1"^^xsd:string) AnnotationAssertion( "Trisomy Xq13 1 q21 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001640"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Duplication Xq13 1 q21 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair) AnnotationAssertion( "MIM:164680"^^xsd:string) AnnotationAssertion( "MESH:C563506"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001641"^^xsd:string) AnnotationAssertion(rdfs:label "Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Polyps) AnnotationAssertion(Annotation( "MESH:D007417"^^xsd:string) "Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base."^^xsd:string) AnnotationAssertion( "EFO:0003855"^^xsd:string) AnnotationAssertion( "EFO:1000091"^^xsd:string) AnnotationAssertion( "EFO:1000194"^^xsd:string) AnnotationAssertion( "EFO:1000502"^^xsd:string) AnnotationAssertion( "MESH:D007417"^^xsd:string) AnnotationAssertion( "MONDO:0021392"^^xsd:string) AnnotationAssertion( "Intestinal Polyp"^^xsd:string) AnnotationAssertion( "Appendix Hyperplastic Polyp"^^xsd:string) AnnotationAssertion( "Colorectal Juvenile Polyp"^^xsd:string) AnnotationAssertion( "Rectal Hyperplastic Polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001642"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Polyps"^^xsd:string) SubClassOf( ) # Class: (CD59 Deficiency) AnnotationAssertion( "MIM:612300"^^xsd:string) AnnotationAssertion( "MESH:C567355"^^xsd:string) AnnotationAssertion( "RDO:0015446"^^xsd:string) AnnotationAssertion( "HACD59"^^xsd:string) AnnotationAssertion( "HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001643"^^xsd:string) AnnotationAssertion(rdfs:label "CD59 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Acne Inversa 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:05:13Z"^^xsd:string) AnnotationAssertion( "MIM:613736"^^xsd:string) AnnotationAssertion( "MONDO:0013397"^^xsd:string) AnnotationAssertion( "ACNINV2"^^xsd:string) AnnotationAssertion( "familial acne inversa 2, with or without Dowling-Degos disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001644"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Acne Inversa 2"^^xsd:string) SubClassOf( ) # Class: (Coronaviridae Infections) AnnotationAssertion(Annotation( "MESH:D003333"^^xsd:string) "Virus diseases caused by CORONAVIRIDAE."^^xsd:string) AnnotationAssertion( "MIM:122460"^^xsd:string) AnnotationAssertion( "EFO:0007223"^^xsd:string) AnnotationAssertion( "MESH:D003333"^^xsd:string) AnnotationAssertion( "RDO:0005282"^^xsd:string) AnnotationAssertion( "CORONAVIRUS 229E SUSCEPTIBILITY"^^xsd:string) AnnotationAssertion( "CVS"^^xsd:string) AnnotationAssertion( "Coronaviridae Infection"^^xsd:string) AnnotationAssertion( "Coronaviridae infectious disease"^^xsd:string) AnnotationAssertion( "HCVS"^^xsd:string) AnnotationAssertion( "HUMAN CORONAVIRUS SENSITIVITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001645"^^xsd:string) AnnotationAssertion(rdfs:label "Coronaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Specific Language Impairment 3) AnnotationAssertion( "MIM:607134"^^xsd:string) AnnotationAssertion( "SLI3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001646"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Language Impairment 3"^^xsd:string) SubClassOf( ) # Class: (HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS) AnnotationAssertion( "MIM:614187"^^xsd:string) AnnotationAssertion( "RDO:0010100"^^xsd:string) AnnotationAssertion( "HPPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001647"^^xsd:string) AnnotationAssertion(rdfs:label "HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Methylenetetrahydrofolate Reductase Deficiency) AnnotationAssertion( "MIM:236250"^^xsd:string) AnnotationAssertion( "MESH:C537357"^^xsd:string) AnnotationAssertion( "NCI:C84524"^^xsd:string) AnnotationAssertion( "GENERALIZED CEREBRAL ATROPHY/HYPOPLASIA"^^xsd:string) AnnotationAssertion( "HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY"^^xsd:string) AnnotationAssertion( "Homocystinuria due to MTHFR Deficiency"^^xsd:string) AnnotationAssertion( "MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001648"^^xsd:string) AnnotationAssertion(rdfs:label "Methylenetetrahydrofolate Reductase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development) AnnotationAssertion( "Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the glutaminase (GLS) gene was found. GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71) and a syndrome of global developmental delay and progressive ataxia (GDPAG). (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T07:55:13Z"^^xsd:string) AnnotationAssertion( "MIM:618339"^^xsd:string) AnnotationAssertion( "CASGID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001649"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pregnancy-Induced Hypertension) AnnotationAssertion(Annotation( "MESH:D046110"^^xsd:string) "A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions."^^xsd:string) AnnotationAssertion( "MESH:D046110"^^xsd:string) AnnotationAssertion( "MONDO:0024664"^^xsd:string) AnnotationAssertion( "PIH"^^xsd:string) AnnotationAssertion( "Pregnancy Transient Hypertension"^^xsd:string) AnnotationAssertion( "gestational hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "pregnancy-induced hypertension, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9001650"^^xsd:string) AnnotationAssertion(rdfs:label "Pregnancy-Induced Hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Piussan Lenaerts Mathieu syndrome) AnnotationAssertion( "MESH:C537511"^^xsd:string) AnnotationAssertion( "Thumb ankylosis with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001651"^^xsd:string) AnnotationAssertion(rdfs:label "Piussan Lenaerts Mathieu syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Calcium Oxalate Nephrolithiasis 1) AnnotationAssertion( "A calcium oxalate nephrolithiasis caused by compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T14:39:56Z"^^xsd:string) AnnotationAssertion( "MIM:167030"^^xsd:string) AnnotationAssertion( "CAON1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001652"^^xsd:string) AnnotationAssertion(rdfs:label "Calcium Oxalate Nephrolithiasis 1"^^xsd:string) SubClassOf( ) # Class: (Nocturia) AnnotationAssertion(Annotation( "MESH:D053158"^^xsd:string) "Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS)."^^xsd:string) AnnotationAssertion( "MESH:D053158"^^xsd:string) AnnotationAssertion( "Nycturia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001653"^^xsd:string) AnnotationAssertion(rdfs:label "Nocturia"^^xsd:string) SubClassOf( ) # Class: (Colonic Atresia) AnnotationAssertion( "MIM:303650"^^xsd:string) AnnotationAssertion( "MESH:C562562"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001654"^^xsd:string) AnnotationAssertion(rdfs:label "Colonic Atresia"^^xsd:string) SubClassOf( ) # Class: (GSD IV, Neuromuscular Form, Childhood) AnnotationAssertion( "MESH:C565543"^^xsd:string) AnnotationAssertion( "RDO:0014151"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001655"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Neuromuscular Form, Childhood"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alien Hand Syndrome) AnnotationAssertion(Annotation( "MESH:D055964"^^xsd:string) "An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)."^^xsd:string) AnnotationAssertion( "EFO:1001261"^^xsd:string) AnnotationAssertion( "MESH:D055964"^^xsd:string) AnnotationAssertion( "Alien Hand Syndromes"^^xsd:string) AnnotationAssertion( "Anarchic Hand Syndrome"^^xsd:string) AnnotationAssertion( "Anarchic Hand Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001656"^^xsd:string) AnnotationAssertion(rdfs:label "Alien Hand Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sertoli Cell-Only Syndrome, Type II) AnnotationAssertion( "RDO:0013131"^^xsd:string) AnnotationAssertion( "MESH:C564032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001657"^^xsd:string) AnnotationAssertion(rdfs:label "Sertoli Cell-Only Syndrome, Type II"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (limb reperfusion injury) AnnotationAssertion(Annotation( "PMID:36495512"^^xsd:string) Annotation( "UBERON:0002101"^^xsd:string) "This is adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to one or more limbs, including swelling; hemorrhage; necrosis; and damage from free radicals. A limb is a paired appendage that is evolved from a paired fin."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-08-03T15:35:52Z"^^xsd:string) AnnotationAssertion( "forelimb reperfusion injury"^^xsd:string) AnnotationAssertion( "hindlimb reperfusion injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001659"^^xsd:string) AnnotationAssertion(rdfs:label "limb reperfusion injury"^^xsd:string) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Digeorge Syndrome/Velocardiofacial Syndrome Complex 2) AnnotationAssertion( "MIM:601362"^^xsd:string) AnnotationAssertion( "MESH:C563337"^^xsd:string) AnnotationAssertion( "DGS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001660"^^xsd:string) AnnotationAssertion(rdfs:label "Digeorge Syndrome/Velocardiofacial Syndrome Complex 2"^^xsd:string) SubClassOf( ) # Class: (Taste Disorders) AnnotationAssertion(Annotation( "MESH:D013651"^^xsd:string) "Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."^^xsd:string) AnnotationAssertion( "MESH:D013651"^^xsd:string) AnnotationAssertion( "Metallic Taste"^^xsd:string) AnnotationAssertion( "Metallic Tastes"^^xsd:string) AnnotationAssertion( "Primary Taste Disorder"^^xsd:string) AnnotationAssertion( "Primary Taste Disorders"^^xsd:string) AnnotationAssertion( "Secondary Taste Disorder"^^xsd:string) AnnotationAssertion( "Secondary Taste Disorders"^^xsd:string) AnnotationAssertion( "Taste Disorder"^^xsd:string) AnnotationAssertion( "Taste Disorder, Anterior Tongue"^^xsd:string) AnnotationAssertion( "Taste Disorder, Posterior Tongue"^^xsd:string) AnnotationAssertion( "Taste Disorder, Primary, Bitter"^^xsd:string) AnnotationAssertion( "Taste Disorder, Primary, Salt"^^xsd:string) AnnotationAssertion( "Taste Disorder, Primary, Sweet"^^xsd:string) AnnotationAssertion( "Taste Disorder, Secondary, Bitter"^^xsd:string) AnnotationAssertion( "Taste Disorder, Secondary, Salt"^^xsd:string) AnnotationAssertion( "Taste Disorder, Secondary, Sweet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001661"^^xsd:string) AnnotationAssertion(rdfs:label "Taste Disorders"^^xsd:string) SubClassOf( ) # Class: (Infratentorial Neoplasms) AnnotationAssertion(Annotation( "MESH:D015192"^^xsd:string) "Intracranial tumors originating in the region of the brain inferior to the tentorium cerebelli, which contains the cerebellum, fourth ventricle, cerebellopontine angle, brain stem, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS)."^^xsd:string) AnnotationAssertion( "MESH:D015192"^^xsd:string) AnnotationAssertion( "Infratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Infratentorial Tumor"^^xsd:string) AnnotationAssertion( "Infratentorial Tumors"^^xsd:string) AnnotationAssertion( "Malignant Infratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Infratentorial Neoplasms"^^xsd:string) AnnotationAssertion( "Posterior Fossa Neoplasm"^^xsd:string) AnnotationAssertion( "Posterior Fossa Neoplasms"^^xsd:string) AnnotationAssertion( "Posterior Fossa Tumor"^^xsd:string) AnnotationAssertion( "Posterior Fossa Tumors"^^xsd:string) AnnotationAssertion( "benign infratentorial neoplasm"^^xsd:string) AnnotationAssertion( "benign infratentorial neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001662"^^xsd:string) AnnotationAssertion(rdfs:label "Infratentorial Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Twinning due to Superfetation) AnnotationAssertion( "MIM:191250"^^xsd:string) AnnotationAssertion( "MESH:C566018"^^xsd:string) AnnotationAssertion( "Superfetation Twinning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001663"^^xsd:string) AnnotationAssertion(rdfs:label "Twinning due to Superfetation"^^xsd:string) SubClassOf( ) # Class: (OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619318"^^xsd:string) "This is a disease characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, astructural cardiac defects, deafness, and severe developmental delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-18T11:16:56Z"^^xsd:string) AnnotationAssertion( "MIM:619318"^^xsd:string) AnnotationAssertion( "OGIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001664"^^xsd:string) AnnotationAssertion(rdfs:label "OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aneurysm) AnnotationAssertion(Annotation( "MESH:D000783"^^xsd:string) "Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics."^^xsd:string) AnnotationAssertion( "EFO:0009659"^^xsd:string) AnnotationAssertion( "MESH:D000783"^^xsd:string) AnnotationAssertion( "Aneurysms"^^xsd:string) AnnotationAssertion( "Fusiform Aneurysm"^^xsd:string) AnnotationAssertion( "Fusiform Aneurysms"^^xsd:string) AnnotationAssertion( "Saccular Aneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001665"^^xsd:string) AnnotationAssertion(rdfs:label "Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Acanthocheilonemiasis) AnnotationAssertion(Annotation( "MESH:D063485"^^xsd:string) "A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies."^^xsd:string) AnnotationAssertion( "MESH:D063485"^^xsd:string) AnnotationAssertion( "RDO:0012119"^^xsd:string) AnnotationAssertion( "Acanthocheilonemiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001666"^^xsd:string) AnnotationAssertion(rdfs:label "Acanthocheilonemiasis"^^xsd:string) SubClassOf( ) # Class: (Finger Injuries) AnnotationAssertion(Annotation( "MESH:D005383"^^xsd:string) "General or unspecified injuries involving the fingers."^^xsd:string) AnnotationAssertion( "MESH:D005383"^^xsd:string) AnnotationAssertion( "RDO:0005606"^^xsd:string) AnnotationAssertion( "Finger Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001667"^^xsd:string) AnnotationAssertion(rdfs:label "Finger Injuries"^^xsd:string) SubClassOf( ) # Class: (Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2) AnnotationAssertion( "HGPPS2 is caused by homozygous mutation in the DCC gene on chromosome 18q21. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617542"^^xsd:string) AnnotationAssertion( "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "HGPPS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001668"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2"^^xsd:string) SubClassOf( ) # Class: (Synovial Cyst) AnnotationAssertion(Annotation( "MESH:D013581"^^xsd:string) "Non-neoplastic tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint through the JOINT CAPSULE into the periarticular tissues. They are filled with SYNOVIAL FLUID with a smooth and translucent appearance. A synovial cyst can develop from any joint, but most commonly at the back of the knee, where it is known as POPLITEAL CYST."^^xsd:string) AnnotationAssertion( "MESH:D013581"^^xsd:string) AnnotationAssertion( "Synovial Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001669"^^xsd:string) AnnotationAssertion(rdfs:label "Synovial Cyst"^^xsd:string) SubClassOf( ) # Class: (Rajab Interstitial Lung Disease with Brain Calcifications 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-09T08:03:33Z"^^xsd:string) AnnotationAssertion( "MIM:619013"^^xsd:string) AnnotationAssertion( "RILDBC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001670"^^xsd:string) AnnotationAssertion(rdfs:label "Rajab Interstitial Lung Disease with Brain Calcifications 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (pancolitis) AnnotationAssertion(Annotation( "DOID:0060180"^^xsd:string) Annotation( "HP:0033256"^^xsd:string) "This is an inflammatory bowel disease that involves the entire colon."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-24T14:24:27Z"^^xsd:string) AnnotationAssertion( "EFO:0005626"^^xsd:string) AnnotationAssertion( "universal colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001672"^^xsd:string) AnnotationAssertion(rdfs:label "pancolitis"^^xsd:string) SubClassOf( ) # Class: (leptomeningeal metastasis) AnnotationAssertion(Annotation( "EFO:1001012"^^xsd:string) "This is the transfer of a malignant neoplasm that has spread from its original site of growth to the leptomeninges around the brain or spinal cord."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-12T13:25:33Z"^^xsd:string) AnnotationAssertion( "EFO:1001012"^^xsd:string) AnnotationAssertion( "metastatic tumor to the Leptomeninges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001673"^^xsd:string) AnnotationAssertion(rdfs:label "leptomeningeal metastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Thermosensitive Neuropathy) AnnotationAssertion( "MIM:602107"^^xsd:string) AnnotationAssertion( "MESH:C566575"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001674"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Thermosensitive Neuropathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopia 9) AnnotationAssertion( "MIM:609258"^^xsd:string) AnnotationAssertion( "MESH:C563759"^^xsd:string) AnnotationAssertion( "MYP9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001676"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 9"^^xsd:string) SubClassOf( ) # Class: (Krauss Herman Holmes Syndrome) AnnotationAssertion( "MESH:C537618"^^xsd:string) AnnotationAssertion( "Telecanthus, hypertelorism, strabismus, and pes cavus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001677"^^xsd:string) AnnotationAssertion(rdfs:label "Krauss Herman Holmes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 7) AnnotationAssertion( "A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617201"^^xsd:string) AnnotationAssertion( "NEDD4L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PVNH7"^^xsd:string) AnnotationAssertion( "Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001678"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 7"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Collagenopathy, Type 2 Alpha 1) AnnotationAssertion( "MESH:C535964"^^xsd:string) AnnotationAssertion( "Cartilage collagen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001679"^^xsd:string) AnnotationAssertion(rdfs:label "Collagenopathy, Type 2 Alpha 1"^^xsd:string) SubClassOf( ) # Class: (SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS) AnnotationAssertion( "MESH:C580095"^^xsd:string) AnnotationAssertion( "MIM:165800"^^xsd:string) AnnotationAssertion( "MONDO:0100462"^^xsd:string) AnnotationAssertion( "Familial Osteochondritis Dissecans"^^xsd:string) AnnotationAssertion( "OD"^^xsd:string) AnnotationAssertion( "SHORT STATURE AND ADVANCED BONE AGE"^^xsd:string) AnnotationAssertion( "SSOAOD"^^xsd:string) AnnotationAssertion( "OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS"^^xsd:string) AnnotationAssertion( "SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS"^^xsd:string) AnnotationAssertion( "SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001680"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primrose Syndrome) AnnotationAssertion( "MIM:259050"^^xsd:string) AnnotationAssertion( "MESH:C536420"^^xsd:string) AnnotationAssertion( "PRIMS"^^xsd:string) AnnotationAssertion( "ossified ear cartilages with mental deficiency, muscle wasting, and bony changes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001681"^^xsd:string) AnnotationAssertion(rdfs:label "Primrose Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nose Deformities, Acquired) AnnotationAssertion(Annotation( "MESH:D009667"^^xsd:string) "Abnormalities of the nose acquired after birth from injury or disease."^^xsd:string) AnnotationAssertion( "MESH:D009667"^^xsd:string) AnnotationAssertion( "RDO:0000568"^^xsd:string) AnnotationAssertion( "Acquired Nasal Deformities"^^xsd:string) AnnotationAssertion( "Acquired Nasal Deformity"^^xsd:string) AnnotationAssertion( "Acquired Nose Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001682"^^xsd:string) AnnotationAssertion(rdfs:label "Nose Deformities, Acquired"^^xsd:string) SubClassOf( ) # Class: (Digestive System Abnormalities) AnnotationAssertion(Annotation( "MESH:D004065"^^xsd:string) "Congenital structural abnormalities of the DIGESTIVE SYSTEM."^^xsd:string) AnnotationAssertion( "MESH:D004065"^^xsd:string) AnnotationAssertion( "RDO:0000418"^^xsd:string) AnnotationAssertion( "Digestive System Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001683"^^xsd:string) AnnotationAssertion(rdfs:label "Digestive System Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malformations of Cortical Development, Group III) AnnotationAssertion(Annotation( "MESH:D065704"^^xsd:string) "Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias."^^xsd:string) AnnotationAssertion( "MESH:D065704"^^xsd:string) AnnotationAssertion( "RDO:0015981"^^xsd:string) AnnotationAssertion( "Cortical Malformations, Group III"^^xsd:string) AnnotationAssertion( "Malformations Due to Abnormal Postmigrational Development"^^xsd:string) AnnotationAssertion( "Malformations Secondary to Abnormal Postmigrational Development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001684"^^xsd:string) AnnotationAssertion(rdfs:label "Malformations of Cortical Development, Group III"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Coloboma 6) AnnotationAssertion( "MIM:613703"^^xsd:string) AnnotationAssertion( "MCOPCB6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001685"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma 6"^^xsd:string) SubClassOf( ) # Class: (Acute Coronary Syndrome) AnnotationAssertion(Annotation( "MESH:D054058"^^xsd:string) "An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION."^^xsd:string) AnnotationAssertion( "EFO:0005672"^^xsd:string) AnnotationAssertion( "MESH:D054058"^^xsd:string) AnnotationAssertion( "acute coronary syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "factor XII polymorphism"^^xsd:string) AnnotationAssertion( "DOID:9001686"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Coronary Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pubic Symphysis Diastasis) AnnotationAssertion(Annotation( "MESH:D046548"^^xsd:string) "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes."^^xsd:string) AnnotationAssertion( "EFO:1001833"^^xsd:string) AnnotationAssertion( "MESH:D046548"^^xsd:string) AnnotationAssertion( "RDO:0007531"^^xsd:string) AnnotationAssertion( "Diastasis Symphysis Pubis"^^xsd:string) AnnotationAssertion( "Pubic Symphysis Diastases"^^xsd:string) AnnotationAssertion( "Symphysis Pubis Diastases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001687"^^xsd:string) AnnotationAssertion(rdfs:label "Pubic Symphysis Diastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cerebellar Neoplasms) AnnotationAssertion(Annotation( "MESH:D002528"^^xsd:string) "Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)"^^xsd:string) AnnotationAssertion( "MESH:D002528"^^xsd:string) AnnotationAssertion( "NCI:C191764"^^xsd:string) AnnotationAssertion( "Benign Cerebellar Neoplasm"^^xsd:string) AnnotationAssertion( "Cerebellar Neoplasm"^^xsd:string) AnnotationAssertion( "Cerebellar Tumor"^^xsd:string) AnnotationAssertion( "Cerebellar Tumors"^^xsd:string) AnnotationAssertion( "Cerebellum Primary Neoplasm"^^xsd:string) AnnotationAssertion( "benign cerebellar neoplasms"^^xsd:string) AnnotationAssertion( "cerebellum primary neoplasms"^^xsd:string) AnnotationAssertion( "primary cerebellar neoplasm"^^xsd:string) AnnotationAssertion( "primary cerebellar neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001689"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 30) AnnotationAssertion(Annotation( "MIM:620183"^^xsd:string) "A disease characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-04T13:43:24Z"^^xsd:string) AnnotationAssertion( "MIM:620183"^^xsd:string) AnnotationAssertion( "MCPH30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001690"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 30"^^xsd:string) SubClassOf( ) # Class: (Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency) AnnotationAssertion( "MIM:608406"^^xsd:string) AnnotationAssertion( "MESH:C564244"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001691"^^xsd:string) AnnotationAssertion(rdfs:label "Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 46) AnnotationAssertion( "Characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. Caused by homozygous mutation in the STK36 gene on chromosome 2q35. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:10:58Z"^^xsd:string) AnnotationAssertion( "MIM:619436"^^xsd:string) AnnotationAssertion( "CILD46"^^xsd:string) AnnotationAssertion( "STK36-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001692"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 46"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken Syndrome 9) AnnotationAssertion( "An autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616629"^^xsd:string) AnnotationAssertion( "SLSN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001693"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 9"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:618709"^^xsd:string) "A highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-14T16:28:42Z"^^xsd:string) AnnotationAssertion( "MIM:618709"^^xsd:string) AnnotationAssertion( "EFO:0010661"^^xsd:string) AnnotationAssertion( "DLL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDBAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001694"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Synovial Chondromatosis) AnnotationAssertion(Annotation( "MESH:D015838"^^xsd:string) "Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing loose bodies. When the loose bodies undergo secondary calcification, the condition is called synovial osteochondromatosis."^^xsd:string) AnnotationAssertion( "EFO:1000557"^^xsd:string) AnnotationAssertion( "MESH:D015838"^^xsd:string) AnnotationAssertion( "Henderson Jones Syndrome"^^xsd:string) AnnotationAssertion( "Reichel Syndrome"^^xsd:string) AnnotationAssertion( "Reichel's Syndrome"^^xsd:string) AnnotationAssertion( "Reichels Syndrome"^^xsd:string) AnnotationAssertion( "Synovial Chondromatoses"^^xsd:string) AnnotationAssertion( "Synovial Chondrometaplasia"^^xsd:string) AnnotationAssertion( "Synovial Chondrometaplasias"^^xsd:string) AnnotationAssertion( "Synovial Osteochondromatoses"^^xsd:string) AnnotationAssertion( "Synovial Osteochondromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001695"^^xsd:string) AnnotationAssertion(rdfs:label "Synovial Chondromatosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies) AnnotationAssertion( "MIM:602196"^^xsd:string) AnnotationAssertion( "MESH:C535775"^^xsd:string) AnnotationAssertion( "Campomelic dysplasia, mild"^^xsd:string) AnnotationAssertion( "SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001697"^^xsd:string) AnnotationAssertion(rdfs:label "Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alpha-Mannosidosis, Type 1) AnnotationAssertion( "A mild form recognized after age ten years with absence of skeletal abnormalities, muscle problems (myopathy), and slow progression. (GARD)"^^xsd:string) AnnotationAssertion( "RDO:0002209"^^xsd:string) AnnotationAssertion( "MESH:C536584"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001698"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Mannosidosis, Type 1"^^xsd:string) SubClassOf( ) # Class: (gangrene) AnnotationAssertion(Annotation( "MESH:D005734"^^xsd:string) "Death and putrefaction of tissue usually due to a loss of blood supply."^^xsd:string) AnnotationAssertion( "EFO:0008574"^^xsd:string) AnnotationAssertion( "MESH:D005734"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001699"^^xsd:string) AnnotationAssertion(rdfs:label "gangrene"^^xsd:string) SubClassOf( ) # Class: (Thoracolaryngopelvic Dysplasia) AnnotationAssertion( "MIM:187760"^^xsd:string) AnnotationAssertion( "MESH:C536517"^^xsd:string) AnnotationAssertion( "Autosomal dominant thoracolaryngopelvic dysplasia"^^xsd:string) AnnotationAssertion( "Barnes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001700"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracolaryngopelvic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pellagra like Syndrome) AnnotationAssertion( "MIM:260650"^^xsd:string) AnnotationAssertion( "MESH:C538352"^^xsd:string) AnnotationAssertion( "Pellagra-like rash with neurologic manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001701"^^xsd:string) AnnotationAssertion(rdfs:label "Pellagra like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tucker Syndrome) AnnotationAssertion( "MIM:193240"^^xsd:string) AnnotationAssertion( "MESH:C536923"^^xsd:string) AnnotationAssertion( "congenital bilateral recurrent nerve paralysis and ptosis"^^xsd:string) AnnotationAssertion( "ptosis vocal cord paralysis"^^xsd:string) AnnotationAssertion( "vocal cord paralysis and ptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001702"^^xsd:string) AnnotationAssertion(rdfs:label "Tucker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Congenital Ichthyosis 12) AnnotationAssertion( "MIM:617320"^^xsd:string) AnnotationAssertion( "RDO:9001604"^^xsd:string) AnnotationAssertion( "ARCI12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001703"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Congenital Ichthyosis 12"^^xsd:string) SubClassOf( ) # Class: (Pili Torti, Developmental Delay, Neurological Abnormalities) AnnotationAssertion( "MIM:261990"^^xsd:string) AnnotationAssertion( "MESH:C537398"^^xsd:string) AnnotationAssertion( "abnormal hair, joint laxity, and developmental delay"^^xsd:string) AnnotationAssertion( "pili torti and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001704"^^xsd:string) AnnotationAssertion(rdfs:label "Pili Torti, Developmental Delay, Neurological Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 11q Partial Deletion) AnnotationAssertion( "MESH:C538296"^^xsd:string) AnnotationAssertion( "RDO:0004258"^^xsd:string) AnnotationAssertion( "Deletion 11q partial"^^xsd:string) AnnotationAssertion( "Monosomy 11q partial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001705"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 11q Partial Deletion"^^xsd:string) SubClassOf( ) # Class: (Edentulous Jaw) AnnotationAssertion(Annotation( "MESH:D007575"^^xsd:string) "The total absence of teeth from either the mandible or the maxilla, but not both. Total absence of teeth from both is MOUTH, EDENTULOUS. Partial absence of teeth in either is JAW, EDENTULOUS, PARTIALLY."^^xsd:string) AnnotationAssertion( "MESH:D007575"^^xsd:string) AnnotationAssertion( "Edentulous Jaws"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001706"^^xsd:string) AnnotationAssertion(rdfs:label "Edentulous Jaw"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BULIMIA NERVOSA 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-01T10:51:22Z"^^xsd:string) AnnotationAssertion( "BULN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "DOID:9001707"^^xsd:string) AnnotationAssertion(rdfs:label "BULIMIA NERVOSA 2"^^xsd:string) SubClassOf( ) # Class: (Hemorrhagic Shock) AnnotationAssertion(Annotation( "MESH:D012771"^^xsd:string) "Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA."^^xsd:string) AnnotationAssertion( "MESH:D012771"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001708"^^xsd:string) AnnotationAssertion(rdfs:label "Hemorrhagic Shock"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zoster Sine Herpete) AnnotationAssertion(Annotation( "MESH:D031368"^^xsd:string) "HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult."^^xsd:string) AnnotationAssertion( "EFO:1001453"^^xsd:string) AnnotationAssertion( "MESH:D031368"^^xsd:string) AnnotationAssertion( "RDO:0007480"^^xsd:string) AnnotationAssertion( "Zoster Sine Eruptione"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001709"^^xsd:string) AnnotationAssertion(rdfs:label "Zoster Sine Herpete"^^xsd:string) SubClassOf( ) # Class: (CANOMAD Syndrome) AnnotationAssertion( "MESH:C537980"^^xsd:string) AnnotationAssertion( "RDO:0003909"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001710"^^xsd:string) AnnotationAssertion(rdfs:label "CANOMAD Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Central Cord Syndrome) AnnotationAssertion(Annotation( "MESH:D020210"^^xsd:string) "A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent."^^xsd:string) AnnotationAssertion( "EFO:1001772"^^xsd:string) AnnotationAssertion( "MESH:D020210"^^xsd:string) AnnotationAssertion( "Central Cord Injury Syndrome"^^xsd:string) AnnotationAssertion( "Central Spinal Cord Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001711"^^xsd:string) AnnotationAssertion(rdfs:label "Central Cord Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities) AnnotationAssertion( "An early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder or Angelman syndrome. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-10T15:29:17Z"^^xsd:string) AnnotationAssertion( "MIM:618859"^^xsd:string) AnnotationAssertion( "NEDASB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001712"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spatial Visualization, Aptitude For) AnnotationAssertion( "MIM:313000"^^xsd:string) AnnotationAssertion( "RDO:0008715"^^xsd:string) AnnotationAssertion( "VISUOSPATIAL/PERCEPTUAL ABILITIES"^^xsd:string) AnnotationAssertion( "VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001713"^^xsd:string) AnnotationAssertion(rdfs:label "Spatial Visualization, Aptitude For"^^xsd:string) SubClassOf( ) # Class: (Ankle Injuries) AnnotationAssertion(Annotation( "MESH:D016512"^^xsd:string) "Harm or hurt to the ankle or ankle joint usually inflicted by an external source."^^xsd:string) AnnotationAssertion( "EFO:1002021"^^xsd:string) AnnotationAssertion( "MESH:D016512"^^xsd:string) AnnotationAssertion( "Ankle Injury"^^xsd:string) AnnotationAssertion( "Ankle Sprain"^^xsd:string) AnnotationAssertion( "Ankle Sprains"^^xsd:string) AnnotationAssertion( "Syndesmotic Injuries"^^xsd:string) AnnotationAssertion( "Syndesmotic Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001714"^^xsd:string) AnnotationAssertion(rdfs:label "Ankle Injuries"^^xsd:string) SubClassOf( ) # Class: (3-Hydroxyacyl-CoA Dehydrogenase Deficiency) AnnotationAssertion( "MIM:231530"^^xsd:string) AnnotationAssertion( "MESH:C535310"^^xsd:string) AnnotationAssertion( "3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF 3-HYDROXYACYL-COA DEHYDROGENASE"^^xsd:string) AnnotationAssertion( "HAD Deficiency"^^xsd:string) AnnotationAssertion( "HADH Deficiency"^^xsd:string) AnnotationAssertion( "HADHSC Deficiency"^^xsd:string) AnnotationAssertion( "L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency"^^xsd:string) AnnotationAssertion( "M-SCHAD Deficiency"^^xsd:string) AnnotationAssertion( "SCHAD Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001715"^^xsd:string) AnnotationAssertion(rdfs:label "3-Hydroxyacyl-CoA Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hip Contracture) AnnotationAssertion(Annotation( "MESH:D006616"^^xsd:string) "Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006616"^^xsd:string) AnnotationAssertion( "Hip Contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001716"^^xsd:string) AnnotationAssertion(rdfs:label "Hip Contracture"^^xsd:string) SubClassOf( ) # Class: (Telfer Sugar Jaeger Syndrome) AnnotationAssertion( "MIM:172850"^^xsd:string) AnnotationAssertion( "MESH:C536955"^^xsd:string) AnnotationAssertion( "Piebald trait neurologic defects"^^xsd:string) AnnotationAssertion( "White forelock and leukoderma with neurological impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001717"^^xsd:string) AnnotationAssertion(rdfs:label "Telfer Sugar Jaeger Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Veterinary Abortion) AnnotationAssertion(Annotation( "MESH:D000034"^^xsd:string) "Premature expulsion of the FETUS in animals."^^xsd:string) AnnotationAssertion( "MESH:D000034"^^xsd:string) AnnotationAssertion( "Veterinary Abortions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001718"^^xsd:string) AnnotationAssertion(rdfs:label "Veterinary Abortion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Salter-Harris Fractures) AnnotationAssertion(Annotation( "MESH:D000072042"^^xsd:string) "Fractures involving a GROWTH PLATE."^^xsd:string) AnnotationAssertion( "MESH:D000072042"^^xsd:string) AnnotationAssertion( "Growth Plate Fracture"^^xsd:string) AnnotationAssertion( "Growth Plate Fractures"^^xsd:string) AnnotationAssertion( "Growth Plate Injuries"^^xsd:string) AnnotationAssertion( "Growth Plate Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001719"^^xsd:string) AnnotationAssertion(rdfs:label "Salter-Harris Fractures"^^xsd:string) SubClassOf( ) # Class: (Anhaptoglobinemia) AnnotationAssertion( "MIM:614081"^^xsd:string) AnnotationAssertion( "RDO:9000701"^^xsd:string) AnnotationAssertion( "AHP"^^xsd:string) AnnotationAssertion( "Ahaptoglobinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001720"^^xsd:string) AnnotationAssertion(rdfs:label "Anhaptoglobinemia"^^xsd:string) SubClassOf( ) # Class: (Warburton Anyane Yeboa Syndrome) AnnotationAssertion( "MESH:C536682"^^xsd:string) AnnotationAssertion( "RDO:0002327"^^xsd:string) AnnotationAssertion( "Mosaic variegated aneuplody microcephaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001721"^^xsd:string) AnnotationAssertion(rdfs:label "Warburton Anyane Yeboa Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dysarthria) AnnotationAssertion(Annotation( "MESH:D004401"^^xsd:string) "Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)"^^xsd:string) AnnotationAssertion( "MESH:D004401"^^xsd:string) AnnotationAssertion( "Dysarthoses"^^xsd:string) AnnotationAssertion( "Dysarthosis"^^xsd:string) AnnotationAssertion( "Dysarthrias"^^xsd:string) AnnotationAssertion( "Flaccid Dysarthria"^^xsd:string) AnnotationAssertion( "Flaccid Dysarthrias"^^xsd:string) AnnotationAssertion( "Guttural Dysarthria"^^xsd:string) AnnotationAssertion( "Guttural Dysarthrias"^^xsd:string) AnnotationAssertion( "Mixed Dysarthria"^^xsd:string) AnnotationAssertion( "Mixed Dysarthrias"^^xsd:string) AnnotationAssertion( "Scanning Dysarthria"^^xsd:string) AnnotationAssertion( "Scanning Dysarthrias"^^xsd:string) AnnotationAssertion( "Spastic Dysarthria"^^xsd:string) AnnotationAssertion( "Spastic Dysarthrias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001722"^^xsd:string) AnnotationAssertion(rdfs:label "Dysarthria"^^xsd:string) SubClassOf( ) # Class: (Sitosterolemia 2) AnnotationAssertion( "This disease is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-20T11:30:02Z"^^xsd:string) AnnotationAssertion( "MIM:618666"^^xsd:string) AnnotationAssertion( "ABCG5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "STSL2"^^xsd:string) AnnotationAssertion( "phytosterolemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001723"^^xsd:string) AnnotationAssertion(rdfs:label "Sitosterolemia 2"^^xsd:string) SubClassOf( ) # Class: (Fusobacterium Infections) AnnotationAssertion( "Infections with bacteria of the genus FUSOBACTERIUM."^^xsd:string) AnnotationAssertion( "EFO:1000943"^^xsd:string) AnnotationAssertion( "MESH:D005674"^^xsd:string) AnnotationAssertion( "Fusobacterium Infection"^^xsd:string) AnnotationAssertion( "Fusobacterium infectious disease"^^xsd:string) AnnotationAssertion( "Necrobacilloses"^^xsd:string) AnnotationAssertion( "Necrobacillosis"^^xsd:string) AnnotationAssertion( "Sphaerophorus Infection"^^xsd:string) AnnotationAssertion( "Sphaerophorus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001724"^^xsd:string) AnnotationAssertion(rdfs:label "Fusobacterium Infections"^^xsd:string) SubClassOf( ) # Class: (Retina Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the retina, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "PMID:32452260"^^xsd:string) AnnotationAssertion( "RIRI"^^xsd:string) AnnotationAssertion( "Retinal Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001725"^^xsd:string) AnnotationAssertion(rdfs:label "Retina Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wasting Syndrome) AnnotationAssertion(Annotation( "MESH:D019282"^^xsd:string) "A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism."^^xsd:string) AnnotationAssertion( "MESH:D019282"^^xsd:string) AnnotationAssertion( "Wasting Disease"^^xsd:string) AnnotationAssertion( "Wasting Diseases"^^xsd:string) AnnotationAssertion( "Wasting Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001726"^^xsd:string) AnnotationAssertion(rdfs:label "Wasting Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (French Type Sialuria) AnnotationAssertion( "MESH:C537332"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001727"^^xsd:string) AnnotationAssertion(rdfs:label "French Type Sialuria"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Median-Ulnar Nerve Communications) AnnotationAssertion( "MIM:155150"^^xsd:string) AnnotationAssertion( "MESH:C563598"^^xsd:string) AnnotationAssertion( "Martin-Gruber Median-Ulnar Anastomosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001729"^^xsd:string) AnnotationAssertion(rdfs:label "Median-Ulnar Nerve Communications"^^xsd:string) SubClassOf( ) # Class: (Salivary Calculi) AnnotationAssertion(Annotation( "MESH:D020792"^^xsd:string) "The presence of calculi in a salivary duct or gland."^^xsd:string) AnnotationAssertion( "MESH:D020792"^^xsd:string) AnnotationAssertion( "Salivary Calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001730"^^xsd:string) AnnotationAssertion(rdfs:label "Salivary Calculi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cluster Headache, Familial) AnnotationAssertion( "MIM:119915"^^xsd:string) AnnotationAssertion( "MESH:C566117"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001731"^^xsd:string) AnnotationAssertion(rdfs:label "Cluster Headache, Familial"^^xsd:string) SubClassOf( ) # Class: (Nephrosialidosis) AnnotationAssertion( "MIM:256150"^^xsd:string) AnnotationAssertion( "MESH:C562606"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001732"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrosialidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tinnitus) AnnotationAssertion(Annotation( "MESH:D014012"^^xsd:string) "A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D014012"^^xsd:string) AnnotationAssertion( "Clicking Tinnitus"^^xsd:string) AnnotationAssertion( "Leudet Tinnitus"^^xsd:string) AnnotationAssertion( "Leudet's Tinnitus"^^xsd:string) AnnotationAssertion( "Noise Induced Tinnitus"^^xsd:string) AnnotationAssertion( "Objective Tinnitus"^^xsd:string) AnnotationAssertion( "Pulsatile Tinnitus"^^xsd:string) AnnotationAssertion( "Ringing Buzzing Tinnitus"^^xsd:string) AnnotationAssertion( "Spontaneous Oto Acoustic Emission Tinnitus"^^xsd:string) AnnotationAssertion( "Subjective Tinnitus"^^xsd:string) AnnotationAssertion( "Tensor Palatini Induced Tinnitus"^^xsd:string) AnnotationAssertion( "Tensor Tympani Induced Tinnitus"^^xsd:string) AnnotationAssertion( "Tinnitus of Vascular Origin"^^xsd:string) AnnotationAssertion( "Tinnitus, Leudets"^^xsd:string) AnnotationAssertion( "Vascular Origin Tinnitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001733"^^xsd:string) AnnotationAssertion(rdfs:label "Tinnitus"^^xsd:string) SubClassOf( ) # Class: (Neurocutaneous Syndromes) AnnotationAssertion(Annotation( "MESH:D020752"^^xsd:string) "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."^^xsd:string) AnnotationAssertion( "MESH:D020752"^^xsd:string) AnnotationAssertion( "Neurocutaneous Disorder"^^xsd:string) AnnotationAssertion( "Neurocutaneous Disorders"^^xsd:string) AnnotationAssertion( "Neurocutaneous Syndrome"^^xsd:string) AnnotationAssertion( "Neuroectodermal Dysplasia Syndrome"^^xsd:string) AnnotationAssertion( "Neuroectodermal Dysplasia Syndromes"^^xsd:string) AnnotationAssertion( "Phacomatoses"^^xsd:string) AnnotationAssertion( "Phacomatosis"^^xsd:string) AnnotationAssertion( "Phakomatoses"^^xsd:string) AnnotationAssertion( "Phakomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001734"^^xsd:string) AnnotationAssertion(rdfs:label "Neurocutaneous Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 4) AnnotationAssertion( "MESH:C567300"^^xsd:string) AnnotationAssertion( "RDO:0015412"^^xsd:string) AnnotationAssertion( "SHEP4"^^xsd:string) AnnotationAssertion( "SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001735"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Speech Impairment and with or without Seizures) AnnotationAssertion(Annotation( "MIM:620114"^^xsd:string) "A phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-21T14:44:15Z"^^xsd:string) AnnotationAssertion( "MIM:620114"^^xsd:string) AnnotationAssertion( "CACNA1I-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001736"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Speech Impairment and with or without Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sideroblastic Anemia 5) AnnotationAssertion( "An autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. Caused by compound heterozygous mutation in the HSCB gene on chromosome 22q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-20T10:26:09Z"^^xsd:string) AnnotationAssertion( "MIM:619523"^^xsd:string) AnnotationAssertion( "SIDBA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001737"^^xsd:string) AnnotationAssertion(rdfs:label "Sideroblastic Anemia 5"^^xsd:string) SubClassOf( ) # Class: (Hypercalciuria) AnnotationAssertion(Annotation( "MESH:D053565"^^xsd:string) "Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day."^^xsd:string) AnnotationAssertion( "MESH:D053565"^^xsd:string) AnnotationAssertion( "RDO:0001509"^^xsd:string) AnnotationAssertion( "Hypercalciuria, childhood, self-limiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001738"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalciuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Johnston Aarons Schelley Syndrome) AnnotationAssertion( "MIM:208158"^^xsd:string) AnnotationAssertion( "MESH:C535883"^^xsd:string) AnnotationAssertion( "Arthrogryposis with Hyperkeratosis"^^xsd:string) AnnotationAssertion( "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001739"^^xsd:string) AnnotationAssertion(rdfs:label "Johnston Aarons Schelley Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blue Nevus) AnnotationAssertion(Annotation( "MESH:D018329"^^xsd:string) "Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP."^^xsd:string) AnnotationAssertion( "EFO:1000841"^^xsd:string) AnnotationAssertion( "MESH:D018329"^^xsd:string) AnnotationAssertion( "Blue Nevi"^^xsd:string) AnnotationAssertion( "Cellular Blue Nevi"^^xsd:string) AnnotationAssertion( "Cellular Blue Nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001740"^^xsd:string) AnnotationAssertion(rdfs:label "Blue Nevus"^^xsd:string) SubClassOf( ) # Class: (Symphalangism with Multiple Anomalies of Hands and Feet) AnnotationAssertion( "MIM:185750"^^xsd:string) AnnotationAssertion( "MESH:C566098"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001741"^^xsd:string) AnnotationAssertion(rdfs:label "Symphalangism with Multiple Anomalies of Hands and Feet"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemospermia) AnnotationAssertion(Annotation( "MESH:D051516"^^xsd:string) "Blood in the SEMEN, usually due to INFLAMMATION of the PROSTATE, the SEMINAL VESICLES, or both."^^xsd:string) AnnotationAssertion( "MESH:D051516"^^xsd:string) AnnotationAssertion( "Hematospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001742"^^xsd:string) AnnotationAssertion(rdfs:label "Hemospermia"^^xsd:string) SubClassOf( ) # Class: (Cataract 49) AnnotationAssertion( "Characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. Caused by heterozygous mutation in the PANK4 gene on chromosome 1p36. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T12:12:09Z"^^xsd:string) AnnotationAssertion( "MIM:619593"^^xsd:string) AnnotationAssertion( "CTRCT49"^^xsd:string) AnnotationAssertion( "posterior cataract 49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001743"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract 49"^^xsd:string) SubClassOf( ) # Class: (Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions) AnnotationAssertion( "MIM:603393"^^xsd:string) AnnotationAssertion( "MESH:C566378"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001744"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions"^^xsd:string) SubClassOf( ) # Class: (Fasciculation) AnnotationAssertion(Annotation( "MESH:D005207"^^xsd:string) "Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)"^^xsd:string) AnnotationAssertion( "MESH:D005207"^^xsd:string) AnnotationAssertion( "Benign Fasciculation"^^xsd:string) AnnotationAssertion( "Fasciculations"^^xsd:string) AnnotationAssertion( "Muscular Fasciculation"^^xsd:string) AnnotationAssertion( "Muscular Fasciculations"^^xsd:string) AnnotationAssertion( "Skeletal Muscle Fasciculation"^^xsd:string) AnnotationAssertion( "Skeletal Muscle Fasciculations"^^xsd:string) AnnotationAssertion( "Tongue Fasciculation"^^xsd:string) AnnotationAssertion( "benign fasciculations"^^xsd:string) AnnotationAssertion( "tongue fasciculations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001745"^^xsd:string) AnnotationAssertion(rdfs:label "Fasciculation"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation with Defective Fucosylation 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618324"^^xsd:string) AnnotationAssertion( "CDGF2"^^xsd:string) AnnotationAssertion( "FCSK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001746"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation with Defective Fucosylation 2"^^xsd:string) SubClassOf( ) # Class: (Ventricular Dysfunction, Left) AnnotationAssertion(Annotation( "MESH:D018487"^^xsd:string) "A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall."^^xsd:string) AnnotationAssertion( "MESH:D018487"^^xsd:string) AnnotationAssertion( "RDO:0007210"^^xsd:string) AnnotationAssertion( "Left Ventricular Dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001747"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Dysfunction, Left"^^xsd:string) SubClassOf( ) # Class: (Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy) AnnotationAssertion( "MIM:607674"^^xsd:string) AnnotationAssertion( "MESH:C564353"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001748"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chemotherapy-Related Cognitive Impairment) AnnotationAssertion( "The diminished or impaired mental and/or intellectual function associated with the chemical treatment of cancer. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T21:11:11Z"^^xsd:string) AnnotationAssertion( "MESH:D000084202"^^xsd:string) AnnotationAssertion( "Chemo-Fog"^^xsd:string) AnnotationAssertion( "Chemobrain"^^xsd:string) AnnotationAssertion( "Chemotherapy-Induced Cognitive Dysfunction"^^xsd:string) AnnotationAssertion( "Chemotherapy-Induced Cognitive Impairment"^^xsd:string) AnnotationAssertion( "Chemotherapy-Related Cognitive Dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001749"^^xsd:string) AnnotationAssertion(rdfs:label "Chemotherapy-Related Cognitive Impairment"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glucose-Galactose Malabsorption) AnnotationAssertion( "MIM:606824"^^xsd:string) AnnotationAssertion( "MESH:C562602"^^xsd:string) AnnotationAssertion( "RDO:0012246"^^xsd:string) AnnotationAssertion( "CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION"^^xsd:string) AnnotationAssertion( "Carbohydrate Intolerance"^^xsd:string) AnnotationAssertion( "Complex Carbohydrate Intolerance"^^xsd:string) AnnotationAssertion( "GGM"^^xsd:string) AnnotationAssertion( "GM"^^xsd:string) AnnotationAssertion( "Monosaccharide Malabsorption"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001750"^^xsd:string) AnnotationAssertion(rdfs:label "Glucose-Galactose Malabsorption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans) AnnotationAssertion( "MIM:610549"^^xsd:string) AnnotationAssertion( "RDO:0012305"^^xsd:string) AnnotationAssertion( "EFO:1001503"^^xsd:string) AnnotationAssertion( "MESH:C562710"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A"^^xsd:string) AnnotationAssertion( "INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS"^^xsd:string) AnnotationAssertion( "IRAN, Type A"^^xsd:string) AnnotationAssertion( "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001751"^^xsd:string) AnnotationAssertion(rdfs:label "Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Shoulder Dislocation) AnnotationAssertion(Annotation( "MESH:D012783"^^xsd:string) "Displacement of the HUMERUS from the SCAPULA."^^xsd:string) AnnotationAssertion( "MESH:D012783"^^xsd:string) AnnotationAssertion( "Glenohumeral Dislocation"^^xsd:string) AnnotationAssertion( "Glenohumeral Subluxation"^^xsd:string) AnnotationAssertion( "Glenohumeral Subluxations"^^xsd:string) AnnotationAssertion( "glenohumeral dislocations"^^xsd:string) AnnotationAssertion( "shoulder dislocations"^^xsd:string) AnnotationAssertion( "SHOULDER SUBLUXATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001752"^^xsd:string) AnnotationAssertion(rdfs:label "Shoulder Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Moloney Syndrome) AnnotationAssertion( "MESH:C535810"^^xsd:string) AnnotationAssertion( "Choroidal atrophy alopecia"^^xsd:string) AnnotationAssertion( "Regional choroidal atrophy and alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001754"^^xsd:string) AnnotationAssertion(rdfs:label "Moloney Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Haspeslagh Fryns Muelenaere Syndrome) AnnotationAssertion( "MIM:177980"^^xsd:string) AnnotationAssertion( "MESH:C535844"^^xsd:string) AnnotationAssertion( "Haspeslagh syndrome"^^xsd:string) AnnotationAssertion( "distinctive craniofacial features with pterygia and mental retardation"^^xsd:string) AnnotationAssertion( "mental retardation with pterygia, shortness and distinct facial appearance"^^xsd:string) AnnotationAssertion( "pterygia, impaired intellectual development, and distinctive craniofacial features"^^xsd:string) AnnotationAssertion( "pterygia, mental retardation, and distinctive craniofacial features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001755"^^xsd:string) AnnotationAssertion(rdfs:label "Haspeslagh Fryns Muelenaere Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyphema) AnnotationAssertion(Annotation( "MESH:D006988"^^xsd:string) "Bleeding in the anterior chamber of the eye."^^xsd:string) AnnotationAssertion( "MESH:D006988"^^xsd:string) AnnotationAssertion( "Hyphemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001756"^^xsd:string) AnnotationAssertion(rdfs:label "Hyphema"^^xsd:string) SubClassOf( ) # Class: (Patel Bixler Syndrome) AnnotationAssertion( "MESH:C536306"^^xsd:string) AnnotationAssertion( "Alopecia, dysplastic nails, palmar and plantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "Palmoplantar hyperkeratosis and alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001757"^^xsd:string) AnnotationAssertion(rdfs:label "Patel Bixler Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malunited Fractures) AnnotationAssertion(Annotation( "MESH:D017759"^^xsd:string) "Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed)"^^xsd:string) AnnotationAssertion( "EFO:0010684"^^xsd:string) AnnotationAssertion( "MESH:D017759"^^xsd:string) AnnotationAssertion( "Crossunited Fracture"^^xsd:string) AnnotationAssertion( "Crossunited Fractures"^^xsd:string) AnnotationAssertion( "Fracture Malunion"^^xsd:string) AnnotationAssertion( "Fracture Malunions"^^xsd:string) AnnotationAssertion( "Fracture, Abnormal Union"^^xsd:string) AnnotationAssertion( "Fractures, Abnormal Union"^^xsd:string) AnnotationAssertion( "Malunited Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001758"^^xsd:string) AnnotationAssertion(rdfs:label "Malunited Fractures"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis Congenita with Biliary Atresia) AnnotationAssertion( "MIM:242400"^^xsd:string) AnnotationAssertion( "MESH:C562886"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001759"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Congenita with Biliary Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dandruff) AnnotationAssertion( "Excessive shedding of dry scaly material from the scalp in humans."^^xsd:string) AnnotationAssertion( "MESH:D063807"^^xsd:string) AnnotationAssertion( "Scurf"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001760"^^xsd:string) AnnotationAssertion(rdfs:label "Dandruff"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 87) AnnotationAssertion(Annotation( "MIM:620281"^^xsd:string) "A nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct, caused by heterozygous mutation in the PI4KB gene on chromosome 1q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-14T10:14:36Z"^^xsd:string) AnnotationAssertion( "MIM:620281"^^xsd:string) AnnotationAssertion( "DFNA87"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 87"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001761"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 87"^^xsd:string) SubClassOf( ) # Class: (Partial Atrioventricular Canal) AnnotationAssertion( "MESH:C536112"^^xsd:string) AnnotationAssertion( "RDO:0001551"^^xsd:string) AnnotationAssertion( "Atrial Septal Defect, Primum Type"^^xsd:string) AnnotationAssertion( "Partial AVSD"^^xsd:string) AnnotationAssertion( "Partial atrioventricular septal defects"^^xsd:string) AnnotationAssertion( "Partial common atrioventricular canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001762"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Atrioventricular Canal"^^xsd:string) SubClassOf( ) # Class: (Spinal Dysplasia, Anhalt Type) AnnotationAssertion( "MIM:601344"^^xsd:string) AnnotationAssertion( "MESH:C563348"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001763"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Dysplasia, Anhalt Type"^^xsd:string) SubClassOf( ) # Class: (Ausems Wittebol-Post Hennekam Syndrome) AnnotationAssertion( "MESH:C538272"^^xsd:string) AnnotationAssertion( "Cleft lip with progressive retinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001764"^^xsd:string) AnnotationAssertion(rdfs:label "Ausems Wittebol-Post Hennekam Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aloi Tomasini Isaia Syndrome) AnnotationAssertion( "MESH:C537049"^^xsd:string) AnnotationAssertion( "Basal cell nevus, anodontia, abnormal bone mineralization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001765"^^xsd:string) AnnotationAssertion(rdfs:label "Aloi Tomasini Isaia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infantile Hypertrophic Pyloric Stenosis 4) AnnotationAssertion( "MIM:300711"^^xsd:string) AnnotationAssertion( "MESH:C567472"^^xsd:string) AnnotationAssertion( "IHPS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001766"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypertrophic Pyloric Stenosis 4"^^xsd:string) SubClassOf( ) # Class: (Unilateral Hearing Loss) AnnotationAssertion(Annotation( "MESH:D046088"^^xsd:string) "Partial or complete hearing loss in one ear."^^xsd:string) AnnotationAssertion( "MIM:125000"^^xsd:string) AnnotationAssertion( "MESH:D046088"^^xsd:string) AnnotationAssertion( "unilateral deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001767"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (Photoparoxysmal Response 2) AnnotationAssertion( "RDO:0009332"^^xsd:string) AnnotationAssertion( "MIM:609572"^^xsd:string) AnnotationAssertion( "PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY"^^xsd:string) AnnotationAssertion( "PPR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001768"^^xsd:string) AnnotationAssertion(rdfs:label "Photoparoxysmal Response 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis) AnnotationAssertion( "A syndrome that includes subnormal intellectual functioning, intermittent inability to perform smoothly coordinated voluntary movements, and congenital, persistent flexure or contracture of a joint."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-05-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000517"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001769"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME) AnnotationAssertion(Annotation( "MIM:619356"^^xsd:string) "This disease is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-16T15:54:20Z"^^xsd:string) AnnotationAssertion( "MIM:619356"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 24"^^xsd:string) AnnotationAssertion( "GPIBD24"^^xsd:string) AnnotationAssertion( "OORS"^^xsd:string) AnnotationAssertion( "OORS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001770"^^xsd:string) AnnotationAssertion(rdfs:label "ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Polycystic Liver Disease 1) AnnotationAssertion( "MIM:174050"^^xsd:string) AnnotationAssertion( "Isolated autosomal dominant polycystic liver disease"^^xsd:string) AnnotationAssertion( "Isolated polycystic liver disease"^^xsd:string) AnnotationAssertion( "PCLD1"^^xsd:string) AnnotationAssertion( "polycystic liver disease 1 with or without kidney cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001771"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Liver Disease 1"^^xsd:string) SubClassOf( ) # Class: (Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum) AnnotationAssertion( "MIM:273050"^^xsd:string) AnnotationAssertion( "MESH:C536952"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001772"^^xsd:string) AnnotationAssertion(rdfs:label "Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arroyo Garcia Cimadevilla Syndrome) AnnotationAssertion( "MESH:C537439"^^xsd:string) AnnotationAssertion( "Bilateral anophthalmia, esophageal atresia, and right cryptorchidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001773"^^xsd:string) AnnotationAssertion(rdfs:label "Arroyo Garcia Cimadevilla Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neural Deafness with Atypical Atopic Dermatitis) AnnotationAssertion( "MIM:221700"^^xsd:string) AnnotationAssertion( "MESH:C565639"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001774"^^xsd:string) AnnotationAssertion(rdfs:label "Neural Deafness with Atypical Atopic Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Margins of Excision) AnnotationAssertion(Annotation( "MESH:D000072662"^^xsd:string) "The edges of tissue removed in a surgery for assessment of the effectiveness of a surgical procedure in achieving the local control of a neoplasm and the adequacy of tumor removal. When the margin is negative or not involved by tumor (e.g., CANCER) it suggests all of the tumor has been removed by the surgery."^^xsd:string) AnnotationAssertion( "MESH:D000072662"^^xsd:string) AnnotationAssertion( "RDO:0016120"^^xsd:string) AnnotationAssertion( "Excision Margin"^^xsd:string) AnnotationAssertion( "Excision Margins"^^xsd:string) AnnotationAssertion( "Negative Surgical Margin"^^xsd:string) AnnotationAssertion( "Negative Surgical Margins"^^xsd:string) AnnotationAssertion( "Positive Surgical Margin"^^xsd:string) AnnotationAssertion( "Positive Surgical Margins"^^xsd:string) AnnotationAssertion( "Resection Margin"^^xsd:string) AnnotationAssertion( "Resection Margins"^^xsd:string) AnnotationAssertion( "Surgical Margin"^^xsd:string) AnnotationAssertion( "Surgical Margins"^^xsd:string) AnnotationAssertion( "Tumor Free Margins"^^xsd:string) AnnotationAssertion( "Tumor-Free Margin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001775"^^xsd:string) AnnotationAssertion(rdfs:label "Margins of Excision"^^xsd:string) SubClassOf( ) # Class: (Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type) AnnotationAssertion( "MIM:600122"^^xsd:string) AnnotationAssertion( "MESH:C535693"^^xsd:string) AnnotationAssertion( "Verloes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001776"^^xsd:string) AnnotationAssertion(rdfs:label "Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Subdural Effusion) AnnotationAssertion(Annotation( "MESH:D013353"^^xsd:string) "Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions."^^xsd:string) AnnotationAssertion( "EFO:1001429"^^xsd:string) AnnotationAssertion( "MESH:D013353"^^xsd:string) AnnotationAssertion( "Subdural Cerebrospinal Fluid Effusion"^^xsd:string) AnnotationAssertion( "Subdural Cerebrospinal Fluid Leakage"^^xsd:string) AnnotationAssertion( "Subdural Hygroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001777"^^xsd:string) AnnotationAssertion(rdfs:label "Subdural Effusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zerres Rietschel Majewski Syndrome) AnnotationAssertion( "MESH:C536724"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001778"^^xsd:string) AnnotationAssertion(rdfs:label "Zerres Rietschel Majewski Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lymphocytosis) AnnotationAssertion(Annotation( "MESH:D008218"^^xsd:string) "Excess of normal lymphocytes in the blood or in any effusion."^^xsd:string) AnnotationAssertion( "MESH:D008218"^^xsd:string) AnnotationAssertion( "Lymphocytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001779"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphocytosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Wilms Tumor 5) AnnotationAssertion( "Susceptibility to Wilms tumor can be caused by mutation in the POU6F2 gene on chromosome 7p14. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:601583"^^xsd:string) AnnotationAssertion( "MESH:C536707"^^xsd:string) AnnotationAssertion( "WT5"^^xsd:string) AnnotationAssertion( "WTSL"^^xsd:string) AnnotationAssertion( "Wilms Tumor and Radial Bilateral Aplasia"^^xsd:string) AnnotationAssertion( "bilateral radial aplasia with Wilms tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001781"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor 5"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction) AnnotationAssertion( "MIM:613870"^^xsd:string) AnnotationAssertion( "MESH:C563939"^^xsd:string) AnnotationAssertion( "HCAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001782"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sackey Sakati Aur Syndrome) AnnotationAssertion( "MESH:C537219"^^xsd:string) AnnotationAssertion( "Aur syndrome"^^xsd:string) AnnotationAssertion( "Multiple dysmorphic features and pancytopenia"^^xsd:string) AnnotationAssertion( "Pancytopenia multiple congenital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001783"^^xsd:string) AnnotationAssertion(rdfs:label "Sackey Sakati Aur Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brachymetapody-Anodontia-Hypotrichosis-Albinoidism) AnnotationAssertion( "MIM:211370"^^xsd:string) AnnotationAssertion( "MESH:C565893"^^xsd:string) AnnotationAssertion( "anodontia-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "oculoosteocutaneous syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001784"^^xsd:string) AnnotationAssertion(rdfs:label "Brachymetapody-Anodontia-Hypotrichosis-Albinoidism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Shared Paranoid Disorder) AnnotationAssertion(Annotation( "MESH:D012753"^^xsd:string) "A condition in which closely related persons, usually in the same family, share the same delusions."^^xsd:string) AnnotationAssertion( "MESH:D012753"^^xsd:string) AnnotationAssertion( "Folie a Deux"^^xsd:string) AnnotationAssertion( "Folie a Trois"^^xsd:string) AnnotationAssertion( "Shared Paranoid Disorders"^^xsd:string) AnnotationAssertion( "Shared Psychotic Disorder"^^xsd:string) AnnotationAssertion( "Shared Psychotic Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001785"^^xsd:string) AnnotationAssertion(rdfs:label "Shared Paranoid Disorder"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 112) AnnotationAssertion(Annotation( "MIM:620449"^^xsd:string) "An autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Caused by homozygous mutation in the MAP3K14 gene on chromosome 17q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-28T11:45:12Z"^^xsd:string) AnnotationAssertion( "MIM:620449"^^xsd:string) AnnotationAssertion( "IMD112"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001786"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 112"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Gingival Hemorrhage) AnnotationAssertion(Annotation( "MESH:D005884"^^xsd:string) "The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY."^^xsd:string) AnnotationAssertion( "MESH:D005884"^^xsd:string) AnnotationAssertion( "RDO:0003542"^^xsd:string) AnnotationAssertion( "Gingival Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001788"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypomelia Mullerian Duct Anomalies) AnnotationAssertion( "MIM:146160"^^xsd:string) AnnotationAssertion( "MESH:C537155"^^xsd:string) AnnotationAssertion( "Hypomelia with Mullerian Duct Anomalies"^^xsd:string) AnnotationAssertion( "Limb-uterus syndrome"^^xsd:string) AnnotationAssertion( "Severe upper limb hypoplasia and Mullerian duct anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001789"^^xsd:string) AnnotationAssertion(rdfs:label "Hypomelia Mullerian Duct Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Long QT Syndrome 1/2) AnnotationAssertion( "MESH:C566006"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 1/2, DIGENIC"^^xsd:string) AnnotationAssertion( "LQT1/2, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001790"^^xsd:string) AnnotationAssertion(rdfs:label "Long QT Syndrome 1/2"^^xsd:string) SubClassOf( ) # Class: (Puerperal Disorders) AnnotationAssertion(Annotation( "MESH:D011644"^^xsd:string) "Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans."^^xsd:string) AnnotationAssertion( "EFO:0009683"^^xsd:string) AnnotationAssertion( "MESH:D011644"^^xsd:string) AnnotationAssertion( "Puerperal Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001791"^^xsd:string) AnnotationAssertion(rdfs:label "Puerperal Disorders"^^xsd:string) SubClassOf( ) # Class: (Orofaciodigital Syndrome 12) AnnotationAssertion( "MESH:C548034"^^xsd:string) AnnotationAssertion( "Moran-Barroso syndrome"^^xsd:string) AnnotationAssertion( "OFD12"^^xsd:string) AnnotationAssertion( "OFDS 12"^^xsd:string) AnnotationAssertion( "oral-facial-digital syndrome 12"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome XII"^^xsd:string) AnnotationAssertion( "orofaciodigital syndrome type 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001792"^^xsd:string) AnnotationAssertion(rdfs:label "Orofaciodigital Syndrome 12"^^xsd:string) SubClassOf( ) # Class: (Generalized Epilepsy) AnnotationAssertion(Annotation( "MESH:D004829"^^xsd:string) "Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"^^xsd:string) AnnotationAssertion( "EFO:0005917"^^xsd:string) AnnotationAssertion( "MESH:D004829"^^xsd:string) AnnotationAssertion( "Akinetic Epilepsy"^^xsd:string) AnnotationAssertion( "Atonic Epilepsies"^^xsd:string) AnnotationAssertion( "Atonic Epilepsy"^^xsd:string) AnnotationAssertion( "Convulsive Generalized Seizure Disorder"^^xsd:string) AnnotationAssertion( "EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "GENERALIZED-ONSET SEIZURE"^^xsd:string) AnnotationAssertion( "Generalized Convulsive Epilepsies"^^xsd:string) AnnotationAssertion( "Generalized Convulsive Epilepsy"^^xsd:string) AnnotationAssertion( "Generalized Epilepsies"^^xsd:string) AnnotationAssertion( "Generalized Nonconvulsive Epilepsy"^^xsd:string) AnnotationAssertion( "Generalized Nonconvulsive Seizure Disorder"^^xsd:string) AnnotationAssertion( "Generalized Onset Seizure Disorder"^^xsd:string) AnnotationAssertion( "Generalized Seizure Disorder"^^xsd:string) AnnotationAssertion( "Generalized Seizure Disorders"^^xsd:string) AnnotationAssertion( "Symptomatic Generalized Epilepsy"^^xsd:string) AnnotationAssertion( "Tonic Epilepsies"^^xsd:string) AnnotationAssertion( "akinetic epilepsies"^^xsd:string) AnnotationAssertion( "tonic epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001793"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epilepsy"^^xsd:string) SubClassOf( ) # Class: (Cholestasis with Gallstone, Ataxia, and Visual Disturbance) AnnotationAssertion( "MIM:214980"^^xsd:string) AnnotationAssertion( "MESH:C565856"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001794"^^xsd:string) AnnotationAssertion(rdfs:label "Cholestasis with Gallstone, Ataxia, and Visual Disturbance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lathyrism) AnnotationAssertion(Annotation( "MESH:D007842"^^xsd:string) "A paralytic condition of the legs caused by ingestion of lathyrogens, especially BETA-AMINOPROPIONITRILE or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus LATHYRUS."^^xsd:string) AnnotationAssertion( "MESH:D007842"^^xsd:string) AnnotationAssertion( "Neurolathyrism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001795"^^xsd:string) AnnotationAssertion(rdfs:label "Lathyrism"^^xsd:string) SubClassOf( ) # Class: (Mesodermal Mixed Tumor) AnnotationAssertion(Annotation( "MESH:D018199"^^xsd:string) "A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)"^^xsd:string) AnnotationAssertion( "RDO:0007103"^^xsd:string) AnnotationAssertion( "EFO:1001371"^^xsd:string) AnnotationAssertion( "MESH:D018199"^^xsd:string) AnnotationAssertion( "Mesodermal Mixed Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001796"^^xsd:string) AnnotationAssertion(rdfs:label "Mesodermal Mixed Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Inherited Thyroxine-Binding Globulin Deficiency) AnnotationAssertion( "RDO:0015900"^^xsd:string) AnnotationAssertion( "MESH:C580199"^^xsd:string) AnnotationAssertion( "Tbg Deficiency"^^xsd:string) AnnotationAssertion( "TBG-PDJ"^^xsd:string) AnnotationAssertion( "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "THYROXINE-BINDING GLOBULIN, VARIANT P"^^xsd:string) AnnotationAssertion( "DOID:9001797"^^xsd:string) AnnotationAssertion(rdfs:label "Inherited Thyroxine-Binding Globulin Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant) AnnotationAssertion( "MESH:C567296"^^xsd:string) AnnotationAssertion( "MIM:115300"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001798"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Congenital Facial Paresis) AnnotationAssertion( "MESH:C563309"^^xsd:string) AnnotationAssertion( "RDO:0001953"^^xsd:string) AnnotationAssertion( "RDO:0012605"^^xsd:string) AnnotationAssertion( "MESH:C536386"^^xsd:string) AnnotationAssertion( "MIM:PS601471"^^xsd:string) AnnotationAssertion( "Congenital Facial Palsy, Unilateral or Bilateral"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001799"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Congenital Facial Paresis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IMAGAWA-MATSUMOTO SYNDROME) AnnotationAssertion(Annotation( "MIM:618786"^^xsd:string) "A disease characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-13T18:07:54Z"^^xsd:string) AnnotationAssertion( "MIM:618786"^^xsd:string) AnnotationAssertion( "IMMAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001800"^^xsd:string) AnnotationAssertion(rdfs:label "IMAGAWA-MATSUMOTO SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 17, Autosomal Dominant) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:608367"^^xsd:string) AnnotationAssertion( "MYOPIA 4"^^xsd:string) AnnotationAssertion( "MYP17"^^xsd:string) AnnotationAssertion( "MYP4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001801"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 17, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Hereditary Hemorrhagic Telangiectasia, Type 4) AnnotationAssertion( "MIM:610655"^^xsd:string) AnnotationAssertion( "MESH:C565691"^^xsd:string) AnnotationAssertion( "HHT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001802"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hemorrhagic Telangiectasia, Type 4"^^xsd:string) SubClassOf( ) # Class: (GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy) AnnotationAssertion( "MESH:C565544"^^xsd:string) AnnotationAssertion( "RDO:0014152"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001803"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:619602"^^xsd:string) "This is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-04T17:43:48Z"^^xsd:string) AnnotationAssertion( "MIM:619602"^^xsd:string) AnnotationAssertion( "FARIMPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001804"^^xsd:string) AnnotationAssertion(rdfs:label "FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short-Rib Thoracic Dysplasia 17 with or without Polydactyly) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001730"^^xsd:string) AnnotationAssertion( "MIM:617405"^^xsd:string) AnnotationAssertion( "SRTD17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001805"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Rib Thoracic Dysplasia 17 with or without Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Connective Tissue Nevus) AnnotationAssertion( "MESH:C562737"^^xsd:string) AnnotationAssertion( "RDO:0012324"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001806"^^xsd:string) AnnotationAssertion(rdfs:label "Connective Tissue Nevus"^^xsd:string) SubClassOf( ) # Class: (Retinoschisis of Fovea) AnnotationAssertion( "MIM:268080"^^xsd:string) AnnotationAssertion( "MESH:C538369"^^xsd:string) AnnotationAssertion( "familial foveal retinoschisis"^^xsd:string) AnnotationAssertion( "foveal retinoschisis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001807"^^xsd:string) AnnotationAssertion(rdfs:label "Retinoschisis of Fovea"^^xsd:string) SubClassOf( ) # Class: (SEDOHEPTULOKINASE DEFICIENCY) AnnotationAssertion( "An autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617213"^^xsd:string) AnnotationAssertion( "RDO:9001544"^^xsd:string) AnnotationAssertion( "ISOLATED SEDOHEPTULOKINASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "SHPKD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001808"^^xsd:string) AnnotationAssertion(rdfs:label "SEDOHEPTULOKINASE DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Urinary Retention) AnnotationAssertion(Annotation( "MESH:D016055"^^xsd:string) "Inability to empty the URINARY BLADDER with voiding (URINATION)."^^xsd:string) AnnotationAssertion( "MESH:D016055"^^xsd:string) AnnotationAssertion( "RDO:0006936"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001809"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Retention"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CONGENITAL DISORDER OF DEGLYCOSYLATION 2) AnnotationAssertion(Annotation( "MIM:619775"^^xsd:string) "This disease is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-04-22T12:18:12Z"^^xsd:string) AnnotationAssertion( "MIM:619775"^^xsd:string) AnnotationAssertion( "CDDG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001812"^^xsd:string) AnnotationAssertion(rdfs:label "CONGENITAL DISORDER OF DEGLYCOSYLATION 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology) AnnotationAssertion( "MIM:605055"^^xsd:string) AnnotationAssertion( "MESH:C565728"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001813"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology"^^xsd:string) SubClassOf( ) # Class: (NEUROOCULORENAL SYNDROME) AnnotationAssertion(Annotation( "MIM:620305"^^xsd:string) "This disease is an autosomal recessive developmental disorder with highly variable clinical manifestations involving multiple organ systems. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-06-20T09:24:43Z"^^xsd:string) AnnotationAssertion( "MIM:620305"^^xsd:string) AnnotationAssertion( "NORS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001814"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROOCULORENAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypertrophy of Masticatory Muscles) AnnotationAssertion( "MIM:154850"^^xsd:string) AnnotationAssertion( "MESH:C563600"^^xsd:string) AnnotationAssertion( "Masseter Muscle Hypertrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001815"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophy of Masticatory Muscles"^^xsd:string) SubClassOf( ) # Class: (Epidermitis, Exudative, of Swine) AnnotationAssertion(Annotation( "MESH:D004818"^^xsd:string) "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)"^^xsd:string) AnnotationAssertion( "MESH:D004818"^^xsd:string) AnnotationAssertion( "RDO:0005505"^^xsd:string) AnnotationAssertion( "Exudative Dermatitis of Swine"^^xsd:string) AnnotationAssertion( "Greasy Pig Disease"^^xsd:string) AnnotationAssertion( "Swine Exudative Dermatitides"^^xsd:string) AnnotationAssertion( "Swine Exudative Dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001816"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermitis, Exudative, of Swine"^^xsd:string) SubClassOf( ) # Class: (Lopes Gorlin Syndrome) AnnotationAssertion( "MIM:600269"^^xsd:string) AnnotationAssertion( "MESH:C537036"^^xsd:string) AnnotationAssertion( "Short Tarsus with Absence of Lower Eyelashes"^^xsd:string) AnnotationAssertion( "Short tarsus absence of lower eyelashes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001817"^^xsd:string) AnnotationAssertion(rdfs:label "Lopes Gorlin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive) AnnotationAssertion( "MIM:256855"^^xsd:string) AnnotationAssertion( "MESH:C564947"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease with Excessive Myelin Folding, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001818"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pulmonary Arterial Hypertension) AnnotationAssertion(Annotation( "MESH:D000081029"^^xsd:string) "A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T12:09:22Z"^^xsd:string) AnnotationAssertion( "EFO:0001361"^^xsd:string) AnnotationAssertion( "EFO:0001362"^^xsd:string) AnnotationAssertion( "EFO:0009054"^^xsd:string) AnnotationAssertion( "EFO:0009192"^^xsd:string) AnnotationAssertion( "EFO:0009194"^^xsd:string) AnnotationAssertion( "EFO:0009195"^^xsd:string) AnnotationAssertion( "EFO:0009197"^^xsd:string) AnnotationAssertion( "EFO:0009198"^^xsd:string) AnnotationAssertion( "MESH:D000081029"^^xsd:string) AnnotationAssertion( "PAH"^^xsd:string) AnnotationAssertion( "Drug- or toxin-induced pulmonary arterial hypertension"^^xsd:string) AnnotationAssertion( "PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONGENITAL HEART DISEASE"^^xsd:string) AnnotationAssertion( "Pulmonary arterial hypertension associated with HIV infection"^^xsd:string) AnnotationAssertion( "Pulmonary arterial hypertension associated with chronic hemolytic anemia"^^xsd:string) AnnotationAssertion( "Pulmonary arterial hypertension associated with portal hypertension"^^xsd:string) AnnotationAssertion( "Pulmonary arterial hypertension associated with schistosomiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001820"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Arterial Hypertension"^^xsd:string) SubClassOf( ) # Class: (Psychogenic Polydipsia) AnnotationAssertion(Annotation( "MESH:D059607"^^xsd:string) "A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION."^^xsd:string) AnnotationAssertion( "MESH:D059607"^^xsd:string) AnnotationAssertion( "Primary Polydipsia"^^xsd:string) AnnotationAssertion( "Primary Polydipsias"^^xsd:string) AnnotationAssertion( "Psychogenic Polydipsias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001821"^^xsd:string) AnnotationAssertion(rdfs:label "Psychogenic Polydipsia"^^xsd:string) SubClassOf( ) # Class: (Acquired Protein S Deficiency) AnnotationAssertion( "MESH:C567077"^^xsd:string) AnnotationAssertion( "RDO:0015254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001822"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Protein S Deficiency"^^xsd:string) SubClassOf( ) # Class: (Commotio Cordis) AnnotationAssertion(Annotation( "MESH:D056104"^^xsd:string) "A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation."^^xsd:string) AnnotationAssertion( "EFO:1001781"^^xsd:string) AnnotationAssertion( "MESH:D056104"^^xsd:string) AnnotationAssertion( "RDO:0007733"^^xsd:string) AnnotationAssertion( "Cardiac Concussion"^^xsd:string) AnnotationAssertion( "Cardiac Concussions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001823"^^xsd:string) AnnotationAssertion(rdfs:label "Commotio Cordis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noonan Syndrome 14) AnnotationAssertion(Annotation( "MIM:619745"^^xsd:string) "A recessive developmental disorder within the RASopathy clinical spectrum. Caused by homozygous mutation in the SPRED2 gene on chromosome 2p14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-11T14:11:52Z"^^xsd:string) AnnotationAssertion( "MIM:619745"^^xsd:string) AnnotationAssertion( "MONDO:0030679"^^xsd:string) AnnotationAssertion( "NS14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001824"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan Syndrome 14"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Universal Muscular Hypoplasia of Krabbe) AnnotationAssertion( "MIM:159100"^^xsd:string) AnnotationAssertion( "MESH:C563553"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001826"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Universal Muscular Hypoplasia of Krabbe"^^xsd:string) SubClassOf( ) # Class: (Critical Illness) AnnotationAssertion(Annotation( "MESH:D016638"^^xsd:string) "A disease or state in which death is possible or imminent."^^xsd:string) AnnotationAssertion( "MESH:D016638"^^xsd:string) AnnotationAssertion( "Critical Illnesses"^^xsd:string) AnnotationAssertion( "Critically Ill"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001827"^^xsd:string) AnnotationAssertion(rdfs:label "Critical Illness"^^xsd:string) SubClassOf( ) # Class: (Cardiac Form of Generalized Glycogenosis) AnnotationAssertion( "RDO:0002540"^^xsd:string) AnnotationAssertion( "MESH:C536839"^^xsd:string) AnnotationAssertion( "cardiomegalia glycogenica diffusa"^^xsd:string) AnnotationAssertion( "generalized glycogenosis, cardiac form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001828"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Form of Generalized Glycogenosis"^^xsd:string) SubClassOf( ) # Class: (Cerebrovascular Trauma) AnnotationAssertion(Annotation( "MESH:D020214"^^xsd:string) "Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES; VERTEBRAL ARTERIES; MENINGEAL ARTERIES; CEREBRAL ARTERIES; veins, and venous sinuses."^^xsd:string) AnnotationAssertion( "EFO:0006791"^^xsd:string) AnnotationAssertion( "MESH:D020214"^^xsd:string) AnnotationAssertion( "RDO:0007347"^^xsd:string) AnnotationAssertion( "Brain Vascular Injury"^^xsd:string) AnnotationAssertion( "Brain Vascular Trauma"^^xsd:string) AnnotationAssertion( "Vascular Brain Injuries"^^xsd:string) AnnotationAssertion( "Vascular Traumas, Brain"^^xsd:string) AnnotationAssertion( "vascular brain injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001829"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrovascular Trauma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,Xy Gonadal Dysgenesis, Complete, Sry-Related) AnnotationAssertion( "MESH:C567574"^^xsd:string) AnnotationAssertion( "Gonadal Dysgenesis, Xy Female Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001830"^^xsd:string) AnnotationAssertion(rdfs:label "46,Xy Gonadal Dysgenesis, Complete, Sry-Related"^^xsd:string) SubClassOf( ) # Class: (Lichen Sclerosus et Atrophicus) AnnotationAssertion(Annotation( "MESH:D018459"^^xsd:string) "A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease."^^xsd:string) AnnotationAssertion( "MIM:151590"^^xsd:string) AnnotationAssertion( "MESH:D018459"^^xsd:string) AnnotationAssertion( "Lichen Sclerosis"^^xsd:string) AnnotationAssertion( "Lichen Sclerosis et Atrophicus"^^xsd:string) AnnotationAssertion( "lichen scleroses"^^xsd:string) AnnotationAssertion( "lichen sclerosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001831"^^xsd:string) AnnotationAssertion(rdfs:label "Lichen Sclerosus et Atrophicus"^^xsd:string) SubClassOf( ) # Class: (Uterine Inertia) AnnotationAssertion(Annotation( "MESH:D014593"^^xsd:string) "Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony."^^xsd:string) AnnotationAssertion( "EFO:1001863"^^xsd:string) AnnotationAssertion( "MESH:D014593"^^xsd:string) AnnotationAssertion( "Uterine Atony"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001832"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Inertia"^^xsd:string) SubClassOf( ) # Class: (Myopia 23, Autosomal Recessive) AnnotationAssertion( "RDO:9001112"^^xsd:string) AnnotationAssertion( "MIM:615431"^^xsd:string) AnnotationAssertion( "MYP23"^^xsd:string) AnnotationAssertion( "RARE ISOLATED MYOPIA"^^xsd:string) AnnotationAssertion( "myopia-23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001833"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 23, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Peritoneal Neoplasms) AnnotationAssertion(Annotation( "MESH:D010534"^^xsd:string) "Tumors or cancer of the PERITONEUM."^^xsd:string) AnnotationAssertion( "RDO:0006115"^^xsd:string) AnnotationAssertion( "EFO:1001100"^^xsd:string) AnnotationAssertion( "MESH:D010534"^^xsd:string) AnnotationAssertion( "peritoneal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001834"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features) AnnotationAssertion( "MIM:613124"^^xsd:string) AnnotationAssertion( "MESH:C567731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001835"^^xsd:string) AnnotationAssertion(rdfs:label "Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardiac Conduction Defect) AnnotationAssertion( "EFO:0005304"^^xsd:string) AnnotationAssertion( "EFO:1001497"^^xsd:string) AnnotationAssertion( "MIM:115080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001836"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Conduction Defect"^^xsd:string) SubClassOf( ) # Class: (Transfusion Reaction) AnnotationAssertion(Annotation( "MESH:D065227"^^xsd:string) "Complications of BLOOD TRANSFUSION."^^xsd:string) AnnotationAssertion( "MESH:D065227"^^xsd:string) AnnotationAssertion( "RDO:0015967"^^xsd:string) AnnotationAssertion( "Acute Hemolytic Transfusion Reaction"^^xsd:string) AnnotationAssertion( "Delayed Hemolytic Transfusion Reaction"^^xsd:string) AnnotationAssertion( "Hemolytic Transfusion Reaction"^^xsd:string) AnnotationAssertion( "Hemolytic Transfusion Reactions"^^xsd:string) AnnotationAssertion( "Transfusion Reactions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOMBROCK BLOOD GROUP"^^xsd:string) AnnotationAssertion( "DOMBROCK-NULL PHENOTYPE"^^xsd:string) AnnotationAssertion( "DOID:9001837"^^xsd:string) AnnotationAssertion(rdfs:label "Transfusion Reaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cleidocranial Dysplasia, Recessive Form) AnnotationAssertion( "MIM:216330"^^xsd:string) AnnotationAssertion( "MESH:C565843"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001839"^^xsd:string) AnnotationAssertion(rdfs:label "Cleidocranial Dysplasia, Recessive Form"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 78 with Autoimmunity and Developmental Delay) AnnotationAssertion( "An autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Caused by homozygous or compound heterozygous mutation in the TPP2 gene on chromosome 13q33. (OMIM)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-16T15:11:46Z"^^xsd:string) AnnotationAssertion( "MIM:619220"^^xsd:string) AnnotationAssertion( "IMD78"^^xsd:string) AnnotationAssertion( "TPP2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001840"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 78 with Autoimmunity and Developmental Delay"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Syphilitic Myelopathy (tabes dorsalis)) AnnotationAssertion( "MESH:C536776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001841"^^xsd:string) AnnotationAssertion(rdfs:label "Syphilitic Myelopathy (tabes dorsalis)"^^xsd:string) SubClassOf( ) # Class: (Kaler Garrity Stern Syndrome) AnnotationAssertion( "MIM:259690"^^xsd:string) AnnotationAssertion( "MESH:C537706"^^xsd:string) AnnotationAssertion( "Osteopenia and sparse hair"^^xsd:string) AnnotationAssertion( "Osteopenia mental retardation sparse hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001842"^^xsd:string) AnnotationAssertion(rdfs:label "Kaler Garrity Stern Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Selective Tooth Agenesis 8) AnnotationAssertion( "MIM:617073"^^xsd:string) AnnotationAssertion( "STHAG8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001843"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 8"^^xsd:string) SubClassOf( ) # Class: (Angular Pregnancy) AnnotationAssertion(Annotation( "MESH:D065170"^^xsd:string) "A rare type of abnormal pregnancy in which EMBRYO IMPLANTATION occurs at a lateral angle of the UTERUS, medial to the uterotubal junction and the ROUND LIGAMENT OF UTERUS."^^xsd:string) AnnotationAssertion( "MESH:D065170"^^xsd:string) AnnotationAssertion( "Angular Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001844"^^xsd:string) AnnotationAssertion(rdfs:label "Angular Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Hypogonadotropic Hypogonadism 25 with Anosmia) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-04-02T17:24:03Z"^^xsd:string) AnnotationAssertion( "MIM:618841"^^xsd:string) AnnotationAssertion( "HH25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001845"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadotropic Hypogonadism 25 with Anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schizoaffective Disorder, Depressive Type) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000393"^^xsd:string) AnnotationAssertion( "Schizophreniform psychosis, depressive type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001846"^^xsd:string) AnnotationAssertion(rdfs:label "Schizoaffective Disorder, Depressive Type"^^xsd:string) SubClassOf( ) # Class: (Unilateral Breast Neoplasms) AnnotationAssertion(Annotation( "MESH:D000069584"^^xsd:string) "Tumors or cancer found specifically in one human BREAST, but not in both."^^xsd:string) AnnotationAssertion( "MESH:D000069584"^^xsd:string) AnnotationAssertion( "Breast Neoplasm, Unilateral"^^xsd:string) AnnotationAssertion( "Left Sided Breast Cancer"^^xsd:string) AnnotationAssertion( "Left Sided Breast Neoplasm"^^xsd:string) AnnotationAssertion( "Left Sided Breast Neoplasms"^^xsd:string) AnnotationAssertion( "Right Sided Breast Cancer"^^xsd:string) AnnotationAssertion( "Right Sided Breast Neoplasm"^^xsd:string) AnnotationAssertion( "Right-Sided Breast Cancers"^^xsd:string) AnnotationAssertion( "left-sided breast cancers"^^xsd:string) AnnotationAssertion( "right sided breast neoplasms"^^xsd:string) AnnotationAssertion( "unilateral breast cancer"^^xsd:string) AnnotationAssertion( "unilateral breast cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001847"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Breast Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Extensor Tendons of Fingers, Anomalous Insertion of) AnnotationAssertion( "MIM:187390"^^xsd:string) AnnotationAssertion( "MESH:C566068"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001848"^^xsd:string) AnnotationAssertion(rdfs:label "Extensor Tendons of Fingers, Anomalous Insertion of"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Craniosynostosis, Philadelphia Type) AnnotationAssertion( "MESH:C563368"^^xsd:string) AnnotationAssertion( "RDO:0012643"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001851"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis, Philadelphia Type"^^xsd:string) SubClassOf( ) # Class: (Stomatodynia) AnnotationAssertion( "MESH:C531639"^^xsd:string) AnnotationAssertion( "RDO:0000065"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001852"^^xsd:string) AnnotationAssertion(rdfs:label "Stomatodynia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Prosopagnosia) AnnotationAssertion( "MIM:610382"^^xsd:string) AnnotationAssertion( "MESH:C537242"^^xsd:string) AnnotationAssertion( "congenital prosopagnosia"^^xsd:string) AnnotationAssertion( "face blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001855"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Prosopagnosia"^^xsd:string) SubClassOf( ) # Class: (Spondylocostal Dysostosis 4, Autosomal Dominant) AnnotationAssertion( "RDO:0013874"^^xsd:string) AnnotationAssertion( "MESH:C565149"^^xsd:string) AnnotationAssertion( "Spondylocostal Dysplasia, Dominant Form"^^xsd:string) AnnotationAssertion( "Spondylothoracic Dysostosis, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001856"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylocostal Dysostosis 4, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Intestinal Type Adenocarcinoma) AnnotationAssertion(Annotation( "NCI:C4126"^^xsd:string) "This is an adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-09T15:56:09Z"^^xsd:string) AnnotationAssertion( "EFO:1000304"^^xsd:string) AnnotationAssertion( "Adenocarcinoma, intestinal type"^^xsd:string) AnnotationAssertion( "Carcinoma, intestinal type"^^xsd:string) AnnotationAssertion( "Intestinal Type Carcinoma"^^xsd:string) AnnotationAssertion( "Intestinal-Type Adenocarcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001857"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Type Adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Lathosterolosis) AnnotationAssertion( "MIM:607330"^^xsd:string) AnnotationAssertion( "MESH:C537880"^^xsd:string) AnnotationAssertion( "3-beta-hydroxysteroid-delta(5)-desaturase deficiency"^^xsd:string) AnnotationAssertion( "Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase"^^xsd:string) AnnotationAssertion( "SC5D deficiency"^^xsd:string) AnnotationAssertion( "Sterol C5-Desaturase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001858"^^xsd:string) AnnotationAssertion(rdfs:label "Lathosterolosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Thrombocytopenia Absent Ulnar Syndrome) AnnotationAssertion( "MESH:C536944"^^xsd:string) AnnotationAssertion( "RDO:0002672"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001860"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia Absent Ulnar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618748"^^xsd:string) "A disease characterized by onset of hypotonia and variably impaired global developmental delay in infancy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-13T17:58:06Z"^^xsd:string) AnnotationAssertion( "MIM:618748"^^xsd:string) AnnotationAssertion( "IDDHBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001861"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crigler Najjar Syndrome, Type 2) AnnotationAssertion( "MIM:606785"^^xsd:string) AnnotationAssertion( "MESH:C536213"^^xsd:string) AnnotationAssertion( "RDO:0001695"^^xsd:string) AnnotationAssertion( "Crigler-Najjar Syndrome, Type II"^^xsd:string) AnnotationAssertion( "HBLRCN2"^^xsd:string) AnnotationAssertion( "HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001862"^^xsd:string) AnnotationAssertion(rdfs:label "Crigler Najjar Syndrome, Type 2"^^xsd:string) SubClassOf( ) # Class: (PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-16T18:17:12Z"^^xsd:string) AnnotationAssertion( "MIM:262190"^^xsd:string) AnnotationAssertion( "MENDENHALL SYNDROME"^^xsd:string) AnnotationAssertion( "PINEAL HYPERPLASIA AND DIABETES MELLITUS SYNDROME"^^xsd:string) AnnotationAssertion( "RABSON-MENDENHALL SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001863"^^xsd:string) AnnotationAssertion(rdfs:label "PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chudley-Rozdilsky Syndrome) AnnotationAssertion( "MIM:253320"^^xsd:string) AnnotationAssertion( "MESH:C535458"^^xsd:string) AnnotationAssertion( "Chudley syndrome"^^xsd:string) AnnotationAssertion( "MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001864"^^xsd:string) AnnotationAssertion(rdfs:label "Chudley-Rozdilsky Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myeloid Leukemia, Accelerated Phase) AnnotationAssertion(Annotation( "MESH:D015465"^^xsd:string) "The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001755"^^xsd:string) AnnotationAssertion( "MESH:D015465"^^xsd:string) AnnotationAssertion( "Leukemia, Myelogenous, Aggressive Phase"^^xsd:string) AnnotationAssertion( "Leukemia, Myeloid, Aggressive-Phase"^^xsd:string) AnnotationAssertion( "Myelogenous Leukemia, Chronic, Aggressive Phase"^^xsd:string) AnnotationAssertion( "Myeloid Leukemia, Chronic, Accelerated Phase"^^xsd:string) AnnotationAssertion( "Myeloid Leukemia, Chronic, Aggressive Phase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001865"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloid Leukemia, Accelerated Phase"^^xsd:string) SubClassOf( ) # Class: (Pyogenic Granuloma) AnnotationAssertion(Annotation( "MESH:D017789"^^xsd:string) "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma."^^xsd:string) AnnotationAssertion( "EFO:0010830"^^xsd:string) AnnotationAssertion( "MESH:D017789"^^xsd:string) AnnotationAssertion( "Angiogranuloma"^^xsd:string) AnnotationAssertion( "Angiogranulomas"^^xsd:string) AnnotationAssertion( "Granuloma Pyogenicum"^^xsd:string) AnnotationAssertion( "Granuloma Telangiecticum"^^xsd:string) AnnotationAssertion( "Lobular Capillary Hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001866"^^xsd:string) AnnotationAssertion(rdfs:label "Pyogenic Granuloma"^^xsd:string) SubClassOf( ) # Class: (Occupational Injuries) AnnotationAssertion(Annotation( "MESH:D060051"^^xsd:string) "Injuries sustained from incidents in the course of work-related activities."^^xsd:string) AnnotationAssertion( "MESH:D060051"^^xsd:string) AnnotationAssertion( "RDO:0010032"^^xsd:string) AnnotationAssertion( "Occupational Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001867"^^xsd:string) AnnotationAssertion(rdfs:label "Occupational Injuries"^^xsd:string) SubClassOf( ) # Class: (Short QT Syndrome 3) AnnotationAssertion( "MIM:609622"^^xsd:string) AnnotationAssertion( "MESH:C566504"^^xsd:string) AnnotationAssertion( "SHORT QT SYNDROME TYPE 3"^^xsd:string) AnnotationAssertion( "SQT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001868"^^xsd:string) AnnotationAssertion(rdfs:label "Short QT Syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia) AnnotationAssertion( "MIM:608624"^^xsd:string) AnnotationAssertion( "MESH:C563896"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001869"^^xsd:string) AnnotationAssertion(rdfs:label "Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay) AnnotationAssertion(Annotation( "MIM:619884"^^xsd:string) "Characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable. Caused by heterozygous mutation in the COPB2 gene on chromosome 3q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-31T07:44:09Z"^^xsd:string) AnnotationAssertion( "COPB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619884"^^xsd:string) AnnotationAssertion( "OPDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001870"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant) AnnotationAssertion( "MESH:C538534"^^xsd:string) AnnotationAssertion( "RDO:0004478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001871"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Ulna Fractures) AnnotationAssertion(Annotation( "MESH:D014458"^^xsd:string) "Fractures of the larger bone of the forearm."^^xsd:string) AnnotationAssertion( "EFO:0003950"^^xsd:string) AnnotationAssertion( "MESH:D014458"^^xsd:string) AnnotationAssertion( "Ulna Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001872"^^xsd:string) AnnotationAssertion(rdfs:label "Ulna Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Camptodactyly Taurinuria) AnnotationAssertion( "MESH:C537972"^^xsd:string) AnnotationAssertion( "Camptodactyly with Taurinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001873"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Taurinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudouridinuria and Mental Defect) AnnotationAssertion( "MIM:264500"^^xsd:string) AnnotationAssertion( "MESH:C564864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001874"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudouridinuria and Mental Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency) AnnotationAssertion( "MIM:200900"^^xsd:string) AnnotationAssertion( "MESH:C565984"^^xsd:string) AnnotationAssertion( "SLSD with SCID"^^xsd:string) AnnotationAssertion( "so-called achondroplasia and severe combined immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001875"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bardet-Biedl Syndrome 2/4, Digenic) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001189"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001876"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl Syndrome 2/4, Digenic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly) AnnotationAssertion( "MIM:133750"^^xsd:string) AnnotationAssertion( "MESH:C565032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001877"^^xsd:string) AnnotationAssertion(rdfs:label "Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Disorders of Environmental Origin) AnnotationAssertion(Annotation( "MESH:D007280"^^xsd:string) "Disorders caused by external forces rather than by physiologic dysfunction or by pathogens."^^xsd:string) AnnotationAssertion( "MESH:D007280"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001878"^^xsd:string) AnnotationAssertion(rdfs:label "Disorders of Environmental Origin"^^xsd:string) SubClassOf( ) # Class: (Androgenetic Alopecia 3) AnnotationAssertion( "MIM:612421"^^xsd:string) AnnotationAssertion( "RDO:0015425"^^xsd:string) AnnotationAssertion( "MESH:C567317"^^xsd:string) AnnotationAssertion( "AGA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001879"^^xsd:string) AnnotationAssertion(rdfs:label "Androgenetic Alopecia 3"^^xsd:string) SubClassOf( ) # Class: (Testicular Microlithiasis) AnnotationAssertion( "MIM:610441"^^xsd:string) AnnotationAssertion( "MESH:C566478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001880"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Microlithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME) AnnotationAssertion(Annotation( "MIM:618805"^^xsd:string) "This is is a multisystem disease with possible issues including cataract, developmental delay, liver dysfunction, microcytic anemia, and cerebellar hypoplasia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-11-01T12:15:01Z"^^xsd:string) AnnotationAssertion( "MIM:618805"^^xsd:string) AnnotationAssertion( "TKFCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001881"^^xsd:string) AnnotationAssertion(rdfs:label "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Macleod Fraser syndrome) AnnotationAssertion( "MESH:C537715"^^xsd:string) AnnotationAssertion( "RDO:0003603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001882"^^xsd:string) AnnotationAssertion(rdfs:label "Macleod Fraser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Adenolymphoma) AnnotationAssertion(Annotation( "MESH:D000235"^^xsd:string) "A benign tumor characterized histologically by tall columnar epithelium within a lymphoid tissue stroma. It is usually found in the salivary glands, especially the parotid."^^xsd:string) AnnotationAssertion( "EFO:1000625"^^xsd:string) AnnotationAssertion( "MESH:D000235"^^xsd:string) AnnotationAssertion( "Papillary Cystadenoma Lymphomatosum"^^xsd:string) AnnotationAssertion( "Warthin Tumor"^^xsd:string) AnnotationAssertion( "adenolymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001884"^^xsd:string) AnnotationAssertion(rdfs:label "Adenolymphoma"^^xsd:string) SubClassOf( ) # Class: (Nuclear Type Mitochondrial Complex I Deficiency 38) AnnotationAssertion( "Characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. Caused by homozygous mutation in the DNAJC30 gene on chromosome 7q11. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-23T10:49:02Z"^^xsd:string) AnnotationAssertion( "MIM:619382"^^xsd:string) AnnotationAssertion( "LHONAR"^^xsd:string) AnnotationAssertion( "LHONAR1"^^xsd:string) AnnotationAssertion( "Leber hereditary optic neuropathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "Leber hereditary optic neuropathy, autosomal recessive 1"^^xsd:string) AnnotationAssertion( "MC1DN38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001885"^^xsd:string) AnnotationAssertion(rdfs:label "Nuclear Type Mitochondrial Complex I Deficiency 38"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hyperferritinemia) AnnotationAssertion( "A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-19T15:30:08Z"^^xsd:string) AnnotationAssertion( "MESH:D000085583"^^xsd:string) AnnotationAssertion( "Dysmetabolic Hyperferritinemia"^^xsd:string) AnnotationAssertion( "Elevated Serum Ferritin"^^xsd:string) AnnotationAssertion( "Raised Serum Ferritin"^^xsd:string) AnnotationAssertion( "Ultrahyperferritinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001887"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperferritinemia"^^xsd:string) SubClassOf( ) # Class: (Hypothalamic Obesity) AnnotationAssertion(Annotation( "PMID:19202508"^^xsd:string) "Involves intractable weight gain after hypothalamic damage"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-02T13:51:06Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001888"^^xsd:string) AnnotationAssertion(rdfs:label "Hypothalamic Obesity"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia with Abnormal Dentition) AnnotationAssertion( "MIM:601668"^^xsd:string) AnnotationAssertion( "RDO:0014949"^^xsd:string) AnnotationAssertion( "MESH:C566644"^^xsd:string) AnnotationAssertion( "SEMDAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001889"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia with Abnormal Dentition"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auditory Neuropathy) AnnotationAssertion( "MESH:C538268"^^xsd:string) AnnotationAssertion( "MIM:PS609129"^^xsd:string) AnnotationAssertion( "Auditory dys-synchrony"^^xsd:string) AnnotationAssertion( "Familial auditory neuropathy"^^xsd:string) AnnotationAssertion( "Progressive auditory neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001890"^^xsd:string) AnnotationAssertion(rdfs:label "Auditory Neuropathy"^^xsd:string) SubClassOf( ) # Class: (Atrial Septal Defect, Secundum Type) AnnotationAssertion( "MESH:C566241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001891"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Septal Defect, Secundum Type"^^xsd:string) SubClassOf( ) # Class: (Viljoen Kallis Voges Syndrome) AnnotationAssertion( "MESH:C536349"^^xsd:string) AnnotationAssertion( "RDO:0001900"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001892"^^xsd:string) AnnotationAssertion(rdfs:label "Viljoen Kallis Voges Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium) AnnotationAssertion( "MESH:C535790"^^xsd:string) AnnotationAssertion( "RDO:0001097"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001893"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunoglobulin A Deficiency 2) AnnotationAssertion( "MIM:609529"^^xsd:string) AnnotationAssertion( "MESH:C536291"^^xsd:string) AnnotationAssertion( "RDO:0001815"^^xsd:string) AnnotationAssertion( "IGAD2"^^xsd:string) AnnotationAssertion( "Iga, selective deficiency of, taci-related"^^xsd:string) AnnotationAssertion( "Immunoglobulin a, selective deficiency of, taci-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001895"^^xsd:string) AnnotationAssertion(rdfs:label "Immunoglobulin A Deficiency 2"^^xsd:string) SubClassOf( ) # Class: (Cervical Vertebral Dysplasia) AnnotationAssertion( "MIM:118005"^^xsd:string) AnnotationAssertion( "MESH:C566140"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001896"^^xsd:string) AnnotationAssertion(rdfs:label "Cervical Vertebral Dysplasia"^^xsd:string) SubClassOf( ) # Class: (MOTOR NEURON ATROPHY) AnnotationAssertion(Annotation( "HP:0007373"^^xsd:string) Annotation( "MP:0000938"^^xsd:string) "Wasting and degeneration of motor neurons causing retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-11-03T15:22:18Z"^^xsd:string) AnnotationAssertion( "Motor neuron degeneration"^^xsd:string) AnnotationAssertion( "loss of motor neurons"^^xsd:string) AnnotationAssertion( "motoneuron degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001897"^^xsd:string) AnnotationAssertion(rdfs:label "MOTOR NEURON ATROPHY"^^xsd:string) SubClassOf( ) # Class: (Aughton Syndrome) AnnotationAssertion( "MIM:221950"^^xsd:string) AnnotationAssertion( "MESH:C538269"^^xsd:string) AnnotationAssertion( "Dextrocardia with unusual facies and microphthalmia"^^xsd:string) AnnotationAssertion( "Dextrocardia, microphthalmia, cleft palate, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001898"^^xsd:string) AnnotationAssertion(rdfs:label "Aughton Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Triglyceride Storage Disease, Type I) AnnotationAssertion( "MIM:190420"^^xsd:string) AnnotationAssertion( "MESH:C566031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001899"^^xsd:string) AnnotationAssertion(rdfs:label "Triglyceride Storage Disease, Type I"^^xsd:string) SubClassOf( ) # Class: (Arnold-Chiari Malformation) AnnotationAssertion(Annotation( "MESH:D001139"^^xsd:string) "A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)"^^xsd:string) AnnotationAssertion( "MIM:118420"^^xsd:string) AnnotationAssertion( "MIM:207950"^^xsd:string) AnnotationAssertion( "MESH:D001139"^^xsd:string) AnnotationAssertion( "NCI:C84570"^^xsd:string) AnnotationAssertion( "Arnold Chiari Deformity"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation Type I"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation Type II"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation Type III"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation Type IV"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation, Type 1"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation, Type 2"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation, Type 3"^^xsd:string) AnnotationAssertion( "Arnold Chiari Malformation, Type 4"^^xsd:string) AnnotationAssertion( "Arnold Chiari Syndrome"^^xsd:string) AnnotationAssertion( "Chiari Malformation Type 2"^^xsd:string) AnnotationAssertion( "Chiari Malformation Type I"^^xsd:string) AnnotationAssertion( "Chiari Malformation Type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001900"^^xsd:string) AnnotationAssertion(rdfs:label "Arnold-Chiari Malformation"^^xsd:string) SubClassOf( ) # Class: (Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia) AnnotationAssertion( "MIM:113610"^^xsd:string) AnnotationAssertion( "MESH:C566188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001901"^^xsd:string) AnnotationAssertion(rdfs:label "Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cutaneous nodular amyloidosis) AnnotationAssertion(Annotation( "ORPHA:137810"^^xsd:string) "This disease is the rarest form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-23T15:14:34Z"^^xsd:string) AnnotationAssertion( "EFO:1001882"^^xsd:string) AnnotationAssertion( "PLCNA"^^xsd:string) AnnotationAssertion( "primary localized cutaneous nodular amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001902"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous nodular amyloidosis"^^xsd:string) SubClassOf( ) # Class: (Petty Laxova Wiedemann Syndrome) AnnotationAssertion( "MESH:C537886"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001903"^^xsd:string) AnnotationAssertion(rdfs:label "Petty Laxova Wiedemann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sinus Histiocytosis) AnnotationAssertion(Annotation( "MESH:D015618"^^xsd:string) "Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy."^^xsd:string) AnnotationAssertion( "RDO:0000487"^^xsd:string) AnnotationAssertion( "MESH:D015618"^^xsd:string) AnnotationAssertion( "Destombes Rosai Dorfman Syndrome"^^xsd:string) AnnotationAssertion( "Rosai Dorfman Disease"^^xsd:string) AnnotationAssertion( "Sinus Histiocytoses"^^xsd:string) AnnotationAssertion( "Sinus Histiocytosis with Massive Lymphadenopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001904"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Histiocytosis"^^xsd:string) SubClassOf( ) # Class: (Hereditary Motor and Sensory Neuropathy, Okinawa Type) AnnotationAssertion( "MIM:604484"^^xsd:string) AnnotationAssertion( "MESH:C535717"^^xsd:string) AnnotationAssertion( "HMSNO"^^xsd:string) AnnotationAssertion( "HMSNP"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, proximal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001905"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Motor and Sensory Neuropathy, Okinawa Type"^^xsd:string) SubClassOf( ) # Class: (Hereditary Hemorrhagic Telangiectasia, Type 5) AnnotationAssertion( "MIM:615506"^^xsd:string) AnnotationAssertion( "HHT5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001906"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hemorrhagic Telangiectasia, Type 5"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia, Optic Atrophy, and Dementia) AnnotationAssertion( "MIM:182830"^^xsd:string) AnnotationAssertion( "MESH:C566679"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001907"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia, Optic Atrophy, and Dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Diaphragmatic Hernia 4) AnnotationAssertion(Annotation( "MIM:620025"^^xsd:string) "An autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Caused by compound heterozygous mutation in the ALDH1A2 gene on chromosome 15q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-06T09:21:20Z"^^xsd:string) AnnotationAssertion( "MIM:620025"^^xsd:string) AnnotationAssertion( "DIH4"^^xsd:string) AnnotationAssertion( "Diaphragmatic hernia 4, with cardiovascular defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001909"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia 4"^^xsd:string) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 12) AnnotationAssertion(Annotation( "MIM:620010"^^xsd:string) "A disease characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-22T09:32:38Z"^^xsd:string) AnnotationAssertion( "MIM:620010"^^xsd:string) AnnotationAssertion( "CHOLESTASIS, ISOLATED LOW-GGT"^^xsd:string) AnnotationAssertion( "PFIC12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001910"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 12"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis and Dental Anomalies) AnnotationAssertion( "MIM:614188"^^xsd:string) AnnotationAssertion( "MONDO:0013615"^^xsd:string) AnnotationAssertion( "ORDO:284149"^^xsd:string) AnnotationAssertion( "CRSDA"^^xsd:string) AnnotationAssertion( "Kreiborg-Pakistani syndrome"^^xsd:string) AnnotationAssertion( "craniosynostosis-dental anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001911"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis and Dental Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis) AnnotationAssertion( "MIM:613075"^^xsd:string) AnnotationAssertion( "MESH:C567770"^^xsd:string) AnnotationAssertion( "MACS syndrome"^^xsd:string) AnnotationAssertion( "RIN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "tall forehead, sparse hair, skin hyperextensibility, and scoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001912"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Soft Tissue Injuries) AnnotationAssertion(Annotation( "MESH:D017695"^^xsd:string) "Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as 'soft tissue injuries of the hand'."^^xsd:string) AnnotationAssertion( "MESH:D017695"^^xsd:string) AnnotationAssertion( "RDO:0007069"^^xsd:string) AnnotationAssertion( "Soft Tissue Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001913"^^xsd:string) AnnotationAssertion(rdfs:label "Soft Tissue Injuries"^^xsd:string) SubClassOf( ) # Class: (Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa) AnnotationAssertion( "MIM:610319"^^xsd:string) AnnotationAssertion( "MESH:C537610"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001914"^^xsd:string) AnnotationAssertion(rdfs:label "Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature with Nonspecific Skeletal Abnormalities) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616255"^^xsd:string) AnnotationAssertion( "MONDO:0014551"^^xsd:string) AnnotationAssertion( "SNSK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001915"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature with Nonspecific Skeletal Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fetal Death) AnnotationAssertion(Annotation( "MESH:D005313"^^xsd:string) "Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH."^^xsd:string) AnnotationAssertion( "MESH:D005313"^^xsd:string) AnnotationAssertion( "RDO:0004621"^^xsd:string) AnnotationAssertion( "Fetal Deaths"^^xsd:string) AnnotationAssertion( "Fetal Demise"^^xsd:string) AnnotationAssertion( "Fetal Mummification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001916"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA) AnnotationAssertion(Annotation( "MIM:618195"^^xsd:string) "A disease characterized by mild to moderate intellectual disability and typical features of RP."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-09T18:17:51Z"^^xsd:string) AnnotationAssertion( "MIM:618195"^^xsd:string) AnnotationAssertion( "IDDRP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001917"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Exostoses of Heel) AnnotationAssertion( "MIM:133600"^^xsd:string) AnnotationAssertion( "MESH:C563167"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001918"^^xsd:string) AnnotationAssertion(rdfs:label "Exostoses of Heel"^^xsd:string) SubClassOf( ) # Class: (Vascular Neoplasms) AnnotationAssertion(Annotation( "MESH:D019043"^^xsd:string) "Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA."^^xsd:string) AnnotationAssertion( "MESH:D019043"^^xsd:string) AnnotationAssertion( "RDO:0002750"^^xsd:string) AnnotationAssertion( "Vascular Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001919"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia/Coloboma 9) AnnotationAssertion( "MIM:615145"^^xsd:string) AnnotationAssertion( "MCOPC9"^^xsd:string) AnnotationAssertion( "MCOPCB9"^^xsd:string) AnnotationAssertion( "isolated microphthalmia with coloboma 9"^^xsd:string) AnnotationAssertion( "MCOPS15"^^xsd:string) AnnotationAssertion( "microphthalmia, syndromic 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001920"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 9"^^xsd:string) SubClassOf( ) # Class: (AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME) AnnotationAssertion(Annotation( "MIM:619858"^^xsd:string) "This disease is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-10T12:25:41Z"^^xsd:string) AnnotationAssertion( "MIM:619858"^^xsd:string) AnnotationAssertion( "AIPCS"^^xsd:string) AnnotationAssertion( "DNASE2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001921"^^xsd:string) AnnotationAssertion(rdfs:label "AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microspherophakia with Hernia) AnnotationAssertion( "MIM:157150"^^xsd:string) AnnotationAssertion( "MESH:C537468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001922"^^xsd:string) AnnotationAssertion(rdfs:label "Microspherophakia with Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Foveal Hypoplasia) AnnotationAssertion( "MESH:C565005"^^xsd:string) AnnotationAssertion( "MIM:PS136520"^^xsd:string) AnnotationAssertion( "Isolated Foveal Hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001923"^^xsd:string) AnnotationAssertion(rdfs:label "Foveal Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE) AnnotationAssertion(Annotation( "MIM:619598"^^xsd:string) "This disease is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-14T15:35:54Z"^^xsd:string) AnnotationAssertion( "MIM:619598"^^xsd:string) AnnotationAssertion( "Ain-Naz type of rhizomelic dysplasia"^^xsd:string) AnnotationAssertion( "RHZDAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001924"^^xsd:string) AnnotationAssertion(rdfs:label "RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE"^^xsd:string) SubClassOf( ) # Class: (Fecal Impaction) AnnotationAssertion(Annotation( "MESH:D005244"^^xsd:string) "Formation of a firm impassable mass of stool in the RECTUM or distal COLON."^^xsd:string) AnnotationAssertion( "MESH:D005244"^^xsd:string) AnnotationAssertion( "Fecalith"^^xsd:string) AnnotationAssertion( "Impacted Feces"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001925"^^xsd:string) AnnotationAssertion(rdfs:label "Fecal Impaction"^^xsd:string) SubClassOf( ) # Class: (Dilated Cardiomyopathy 2I) AnnotationAssertion(Annotation( "MIM:620462"^^xsd:string) "A disease characterized by early-onset severe congestive heart failure. Caused by homozygous mutation in the CAP2 gene on chromosome 6p22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-08-04T09:57:15Z"^^xsd:string) AnnotationAssertion( "MIM:620462"^^xsd:string) AnnotationAssertion( "CMD2I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001926"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 2I"^^xsd:string) SubClassOf( ) # Class: (Dentin Dysplasia with Sclerotic Bones) AnnotationAssertion( "MIM:125440"^^xsd:string) AnnotationAssertion( "MESH:C538213"^^xsd:string) AnnotationAssertion( "dentin dysplasia, sclerotic bones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001927"^^xsd:string) AnnotationAssertion(rdfs:label "Dentin Dysplasia with Sclerotic Bones"^^xsd:string) SubClassOf( ) # Class: (osteogenesis imperfecta type 22) AnnotationAssertion(Annotation( "MIM:619795"^^xsd:string) "Osteogenesis imperfecta caused by homozygous mutation in the CCDC134 on chromosome 22q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-24T10:50:48Z"^^xsd:string) AnnotationAssertion( "MIM:619795"^^xsd:string) AnnotationAssertion( "OI22"^^xsd:string) AnnotationAssertion( "osteogenesis imperfecta type XXII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001928"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 22"^^xsd:string) SubClassOf( ) # Class: (Hypoglossal Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061228"^^xsd:string) "Traumatic injuries to the HYPOGLOSSAL NERVE."^^xsd:string) AnnotationAssertion( "MESH:D061228"^^xsd:string) AnnotationAssertion( "Cranial Nerve XII Injury"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Contusion"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Contusions"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Injury"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Transection"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Transections"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Trauma"^^xsd:string) AnnotationAssertion( "Hypoglossal Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Hypoglossal Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Hypoglossal Neuropathy"^^xsd:string) AnnotationAssertion( "Traumatic Twelfth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Twelfth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Twelfth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Twelfth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Twelfth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Twelfth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001929"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoglossal Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Choroid Hemorrhage) AnnotationAssertion(Annotation( "MESH:D002832"^^xsd:string) "Hemorrhage from the vessels of the choroid."^^xsd:string) AnnotationAssertion( "MESH:D002832"^^xsd:string) AnnotationAssertion( "Choroidal Hemorrhage"^^xsd:string) AnnotationAssertion( "Choroidal Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001930"^^xsd:string) AnnotationAssertion(rdfs:label "Choroid Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Pulmonary Emphysema) AnnotationAssertion( "MIM:130700"^^xsd:string) AnnotationAssertion( "MESH:C565057"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001931"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Pulmonary Emphysema"^^xsd:string) SubClassOf( ) # Class: (Abdominal Injuries) AnnotationAssertion(Annotation( "MESH:D000007"^^xsd:string) "General or unspecified injuries involving organs in the abdominal cavity."^^xsd:string) AnnotationAssertion( "EFO:0009502"^^xsd:string) AnnotationAssertion( "MESH:D000007"^^xsd:string) AnnotationAssertion( "Abdominal Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001932"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Injuries"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neonatal Sepsis) AnnotationAssertion(Annotation( "MESH:D000071074"^^xsd:string) "Blood infection that occurs in an infant younger than 90 days old. Early-onset sepsis is seen in the first week of life and most often appears within 24 hours of birth. Late-onset occurs after 1 week and before 3 months of age."^^xsd:string) AnnotationAssertion( "MESH:D000071074"^^xsd:string) AnnotationAssertion( "Neonatal Early Onset Sepsis"^^xsd:string) AnnotationAssertion( "Neonatal Early-Onset Sepses"^^xsd:string) AnnotationAssertion( "Neonatal Late Onset Sepsis"^^xsd:string) AnnotationAssertion( "Neonatal Late-Onset Sepses"^^xsd:string) AnnotationAssertion( "Neonatal Sepses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001934"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Sepsis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Michels Caskey Syndrome) AnnotationAssertion( "MESH:C537576"^^xsd:string) AnnotationAssertion( "MONDO:0043131"^^xsd:string) AnnotationAssertion( "Mullerian aplasia with hypoplastic thumbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001935"^^xsd:string) AnnotationAssertion(rdfs:label "Michels Caskey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bobble-Head Doll Syndrome) AnnotationAssertion( "MESH:C536241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001936"^^xsd:string) AnnotationAssertion(rdfs:label "Bobble-Head Doll Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemolytic Anemia due to Elevated Adenosine Deaminase) AnnotationAssertion( "MIM:301083"^^xsd:string) AnnotationAssertion( "MESH:C566314"^^xsd:string) AnnotationAssertion( "HAEADA"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Elevated Erythrocyte ADA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001937"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolytic Anemia due to Elevated Adenosine Deaminase"^^xsd:string) SubClassOf( ) # Class: (BADS syndrome) AnnotationAssertion( "MESH:C562663"^^xsd:string) AnnotationAssertion( "Black Locks with Albinism and Deafness Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001938"^^xsd:string) AnnotationAssertion(rdfs:label "BADS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bartsocas-Papas Syndrome 1) AnnotationAssertion( "MIM:263650"^^xsd:string) AnnotationAssertion( "MESH:C564874"^^xsd:string) AnnotationAssertion( "NCI:C168990"^^xsd:string) AnnotationAssertion( "Aslan multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "BPS1"^^xsd:string) AnnotationAssertion( "multiple pterygium syndrome, Aslan type"^^xsd:string) AnnotationAssertion( "popliteal pterygium syndrome, Bartsocas-Papas type 1, multiple"^^xsd:string) AnnotationAssertion( "popliteal pterygium syndrome, lethal type"^^xsd:string) AnnotationAssertion( "popliteal pterygium, lethal type"^^xsd:string) AnnotationAssertion( "pterygium syndrome, Aslan type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001939"^^xsd:string) AnnotationAssertion(rdfs:label "Bartsocas-Papas Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Megalencephalic Leukoencephalopathy with Subcortical Cysts 3) AnnotationAssertion(Annotation( "MIM:620447"^^xsd:string) "A neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Caused by heterozygous mutation in the GPRC5B gene on chromosome 16p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-25T09:55:56Z"^^xsd:string) AnnotationAssertion( "MIM:620447"^^xsd:string) AnnotationAssertion( "MLC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001940"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephalic Leukoencephalopathy with Subcortical Cysts 3"^^xsd:string) SubClassOf( ) # Class: (RECON PROGEROID SYNDROME) AnnotationAssertion(Annotation( "MIM:620370"^^xsd:string) "This disease is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-07-21T10:26:17Z"^^xsd:string) AnnotationAssertion( "MIM:620370"^^xsd:string) AnnotationAssertion( "RECON"^^xsd:string) AnnotationAssertion( "RECQL-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001941"^^xsd:string) AnnotationAssertion(rdfs:label "RECON PROGEROID SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Rajab Interstitial Lung Disease with Brain Calcifications) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-25T11:57:33Z"^^xsd:string) AnnotationAssertion( "MIM:PS613658"^^xsd:string) AnnotationAssertion( "RILDBC"^^xsd:string) AnnotationAssertion( "Rajab interstitial lung disease with brain calcifications"^^xsd:string) AnnotationAssertion( "Rajab syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001942"^^xsd:string) AnnotationAssertion(rdfs:label "Rajab Interstitial Lung Disease with Brain Calcifications"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Macrosomia Adiposa Congenita) AnnotationAssertion( "MIM:248100"^^xsd:string) AnnotationAssertion( "MESH:C565425"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001943"^^xsd:string) AnnotationAssertion(rdfs:label "Macrosomia Adiposa Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Histiocytic Dermatoarthritis) AnnotationAssertion( "MIM:142730"^^xsd:string) AnnotationAssertion( "MESH:C564183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001944"^^xsd:string) AnnotationAssertion(rdfs:label "Histiocytic Dermatoarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Childhood Absence Epilepsy 6) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-25T08:15:41Z"^^xsd:string) AnnotationAssertion( "MIM:611942"^^xsd:string) AnnotationAssertion( "ECA6"^^xsd:string) AnnotationAssertion( "EIG6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6"^^xsd:string) AnnotationAssertion( "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6"^^xsd:string) AnnotationAssertion( "DOID:9001945"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Absence Epilepsy 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skin Abnormalities) AnnotationAssertion(Annotation( "MESH:D012868"^^xsd:string) "Congenital structural abnormalities of the skin."^^xsd:string) AnnotationAssertion( "MESH:D012868"^^xsd:string) AnnotationAssertion( "Skin Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001946"^^xsd:string) AnnotationAssertion(rdfs:label "Skin Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hennekam Lymphangiectasia-Lymphedema Syndrome 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000431"^^xsd:string) AnnotationAssertion( "FAT4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616006"^^xsd:string) AnnotationAssertion( "HKLLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001947"^^xsd:string) AnnotationAssertion(rdfs:label "Hennekam Lymphangiectasia-Lymphedema Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Accessory Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061227"^^xsd:string) "Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation."^^xsd:string) AnnotationAssertion( "MESH:D061227"^^xsd:string) AnnotationAssertion( "Accessory Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Accessory Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Accessory Nerve Contusion"^^xsd:string) AnnotationAssertion( "Accessory Nerve Contusions"^^xsd:string) AnnotationAssertion( "Accessory Nerve Injury"^^xsd:string) AnnotationAssertion( "Accessory Nerve Transection"^^xsd:string) AnnotationAssertion( "Accessory Nerve Transections"^^xsd:string) AnnotationAssertion( "Accessory Nerve Trauma"^^xsd:string) AnnotationAssertion( "Accessory Nerve Traumas"^^xsd:string) AnnotationAssertion( "Cranial Nerve XI Injury"^^xsd:string) AnnotationAssertion( "Eleventh Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Eleventh Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Eleventh Nerve Trauma"^^xsd:string) AnnotationAssertion( "Eleventh-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Spinal Accessory Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Spinal Accessory Nerve Contusion"^^xsd:string) AnnotationAssertion( "Spinal Accessory Nerve Injury"^^xsd:string) AnnotationAssertion( "Spinal Accessory Nerve Transection"^^xsd:string) AnnotationAssertion( "Spinal Accessory Nerve Trauma"^^xsd:string) AnnotationAssertion( "Spinal Accessory Neuropathy, Traumatic"^^xsd:string) AnnotationAssertion( "Traumatic Accessory Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Accessory Neuropathy"^^xsd:string) AnnotationAssertion( "Traumatic Eleventh Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Eleventh-Nerve Palsies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001948"^^xsd:string) AnnotationAssertion(rdfs:label "Accessory Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fungal Eye Infections) AnnotationAssertion(Annotation( "MESH:D015821"^^xsd:string) "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses."^^xsd:string) AnnotationAssertion( "MESH:D015821"^^xsd:string) AnnotationAssertion( "Fungal Ocular Infection"^^xsd:string) AnnotationAssertion( "Fungal Ocular Infections"^^xsd:string) AnnotationAssertion( "Ocular Mycoses"^^xsd:string) AnnotationAssertion( "Ocular Mycosis"^^xsd:string) AnnotationAssertion( "Ocular Mycotic Infection"^^xsd:string) AnnotationAssertion( "Ocular Mycotic Infections"^^xsd:string) AnnotationAssertion( "Oculomycoses"^^xsd:string) AnnotationAssertion( "fungal eye infection"^^xsd:string) AnnotationAssertion( "oculomycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001949"^^xsd:string) AnnotationAssertion(rdfs:label "Fungal Eye Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ribbonlike Corneal Degeneration with Deafness) AnnotationAssertion( "MIM:121450"^^xsd:string) AnnotationAssertion( "MESH:C565157"^^xsd:string) AnnotationAssertion( "Band Keratopathy with Deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001950"^^xsd:string) AnnotationAssertion(rdfs:label "Ribbonlike Corneal Degeneration with Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Symphalangism) AnnotationAssertion( "MIM:185700"^^xsd:string) AnnotationAssertion( "HP:0100263"^^xsd:string) AnnotationAssertion( "MESH:C566099"^^xsd:string) AnnotationAssertion( "MONDO:0008509"^^xsd:string) AnnotationAssertion( "ORDO:3248"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001951"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Symphalangism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Tract Fistula) AnnotationAssertion(Annotation( "MESH:D016156"^^xsd:string) "An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs."^^xsd:string) AnnotationAssertion( "MESH:D016156"^^xsd:string) AnnotationAssertion( "Respiratory Tract Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001952"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Tract Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pneumovirus Infections) AnnotationAssertion(Annotation( "MESH:D018186"^^xsd:string) "Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans."^^xsd:string) AnnotationAssertion( "EFO:1001401"^^xsd:string) AnnotationAssertion( "MESH:D018186"^^xsd:string) AnnotationAssertion( "pneumovirus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001953"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumovirus Infections"^^xsd:string) SubClassOf( ) # Class: (Thoracic Injuries) AnnotationAssertion(Annotation( "MESH:D013898"^^xsd:string) "General or unspecified injuries to the chest area."^^xsd:string) AnnotationAssertion( "MESH:D013898"^^xsd:string) AnnotationAssertion( "Chest Injuries"^^xsd:string) AnnotationAssertion( "Chest Injury"^^xsd:string) AnnotationAssertion( "Thoracic Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001954"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracic Injuries"^^xsd:string) SubClassOf( ) # Class: (Diabetic Gastroparesis) AnnotationAssertion( "Chronic delayed gastric emptying associated with DIABETES MELLITUS and characterized by a triad of postprandial symptoms: nausea, vomiting, and abdominal distension."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "diabetic gatrointestinal disorder"^^xsd:string) AnnotationAssertion( "DOID:9001955"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Gastroparesis"^^xsd:string) SubClassOf( ) # Class: (Darier Disease, Acral Hemorrhagic Type) AnnotationAssertion( "MESH:C565125"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001956"^^xsd:string) AnnotationAssertion(rdfs:label "Darier Disease, Acral Hemorrhagic Type"^^xsd:string) SubClassOf( ) # Class: (Keratosis Palmoplantaris with Periodontopathia and Onychogryposis) AnnotationAssertion( "MIM:245010"^^xsd:string) AnnotationAssertion( "MESH:C537627"^^xsd:string) AnnotationAssertion( "RDO:0003499"^^xsd:string) AnnotationAssertion( "Cochin Jewish disorder"^^xsd:string) AnnotationAssertion( "HMS"^^xsd:string) AnnotationAssertion( "Haim-Munk syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001957"^^xsd:string) AnnotationAssertion(rdfs:label "Keratosis Palmoplantaris with Periodontopathia and Onychogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 77) AnnotationAssertion( "An immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Caused by heterozygous mutation in the MPEG1 gene on chromosome 11q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-22T11:14:24Z"^^xsd:string) AnnotationAssertion( "MIM:619223"^^xsd:string) AnnotationAssertion( "IMD77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001958"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 77"^^xsd:string) SubClassOf( ) # Class: (Cold Injury) AnnotationAssertion(Annotation( "MESH:D000067390"^^xsd:string) "A physical injury caused by exposure of the body to extremely low ambient temperatures that may lead to loss of body parts, or in extreme cases, death. Examples of cold injury are FROSTBITE and CHILBLAINS."^^xsd:string) AnnotationAssertion( "MESH:D000067390"^^xsd:string) AnnotationAssertion( "Cold Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001959"^^xsd:string) AnnotationAssertion(rdfs:label "Cold Injury"^^xsd:string) SubClassOf( ) # Class: (Robin Sequence with Distinctive Facial Appearance and Brachydactyly) AnnotationAssertion( "MIM:608670"^^xsd:string) AnnotationAssertion( "MESH:C563880"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001960"^^xsd:string) AnnotationAssertion(rdfs:label "Robin Sequence with Distinctive Facial Appearance and Brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperkalemia) AnnotationAssertion(Annotation( "MESH:D006947"^^xsd:string) "Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006947"^^xsd:string) AnnotationAssertion( "Hyperkalemias"^^xsd:string) AnnotationAssertion( "Hyperpotassemia"^^xsd:string) AnnotationAssertion( "Hyperpotassemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001961"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkalemia"^^xsd:string) SubClassOf( ) # Class: (Avian Sarcoma) AnnotationAssertion(Annotation( "MESH:D001357"^^xsd:string) "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses."^^xsd:string) AnnotationAssertion( "MESH:D001357"^^xsd:string) AnnotationAssertion( "Avian sarcomas"^^xsd:string) AnnotationAssertion( "Rous sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001962"^^xsd:string) AnnotationAssertion(rdfs:label "Avian Sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant) AnnotationAssertion( "MIM:165199"^^xsd:string) AnnotationAssertion( "MESH:C563497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001964"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Furukawa Takagi Nakao Syndrome) AnnotationAssertion( "MESH:C538193"^^xsd:string) AnnotationAssertion( "RDO:0004135"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001965"^^xsd:string) AnnotationAssertion(rdfs:label "Furukawa Takagi Nakao Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GABRIELE-DE VRIES SYNDROME) AnnotationAssertion( "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617557"^^xsd:string) AnnotationAssertion( "NCI:C165531"^^xsd:string) AnnotationAssertion( "GADEVS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001966"^^xsd:string) AnnotationAssertion(rdfs:label "GABRIELE-DE VRIES SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ulna Metaphyseal Dysplasia Syndrome) AnnotationAssertion( "MIM:191420"^^xsd:string) AnnotationAssertion( "MESH:C536935"^^xsd:string) AnnotationAssertion( "Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna"^^xsd:string) AnnotationAssertion( "Metaphyseal Chondrodysplasia, Rosenberg Type"^^xsd:string) AnnotationAssertion( "Metaphyseal chondroplasia Rosenberg type"^^xsd:string) AnnotationAssertion( "Rosenberg Lohr syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001967"^^xsd:string) AnnotationAssertion(rdfs:label "Ulna Metaphyseal Dysplasia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hot Flashes) AnnotationAssertion(Annotation( "MESH:D019584"^^xsd:string) "A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)"^^xsd:string) AnnotationAssertion( "MESH:D019584"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001968"^^xsd:string) AnnotationAssertion(rdfs:label "Hot Flashes"^^xsd:string) SubClassOf( ) # Class: (O'Donnell-Luria-Rodan Syndrome) AnnotationAssertion(Annotation( "MIM:618512"^^xsd:string) "A neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-16T14:34:29Z"^^xsd:string) AnnotationAssertion( "EFO:0010277"^^xsd:string) AnnotationAssertion( "MIM:618512"^^xsd:string) AnnotationAssertion( "KMT2E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ODLURO"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE CEREBELLAR VERMIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001969"^^xsd:string) AnnotationAssertion(rdfs:label "O'Donnell-Luria-Rodan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 67) AnnotationAssertion(Annotation( "MIM:619803"^^xsd:string) "Characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome. Caused by homozygous mutation in the CCDC62 gene on chromosome 12q24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-24T12:02:58Z"^^xsd:string) AnnotationAssertion( "MIM:619803"^^xsd:string) AnnotationAssertion( "SPGF67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001970"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 67"^^xsd:string) SubClassOf( ) # Class: (Kotzot-Richter Syndrome) AnnotationAssertion( "MESH:C537025"^^xsd:string) AnnotationAssertion( "Albinism with immune and hematologic defects"^^xsd:string) AnnotationAssertion( "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001971"^^xsd:string) AnnotationAssertion(rdfs:label "Kotzot-Richter Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myokymia with Neonatal Epilepsy) AnnotationAssertion( "MESH:C536099"^^xsd:string) AnnotationAssertion( "BFNC-Myokymia syndrome"^^xsd:string) AnnotationAssertion( "Convulsions, benign familial neonatal with Myokymia"^^xsd:string) AnnotationAssertion( "Epilepsy, benign neonatal, with Myokymia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001973"^^xsd:string) AnnotationAssertion(rdfs:label "Myokymia with Neonatal Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Major Affective Disorder 3) AnnotationAssertion( "MIM:609633"^^xsd:string) AnnotationAssertion( "MESH:C566501"^^xsd:string) AnnotationAssertion( "BPEO"^^xsd:string) AnnotationAssertion( "Bipolar Affective Disorder, Early-Onset"^^xsd:string) AnnotationAssertion( "MAFD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001974"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 3"^^xsd:string) SubClassOf( ) # Class: (Arterivirus Infections) AnnotationAssertion(Annotation( "MESH:D018174"^^xsd:string) "Infections caused by viruses of the genus ARTERIVIRUS."^^xsd:string) AnnotationAssertion( "EFO:0007152"^^xsd:string) AnnotationAssertion( "MESH:D018174"^^xsd:string) AnnotationAssertion( "RDO:0007092"^^xsd:string) AnnotationAssertion( "Arterivirus Infection"^^xsd:string) AnnotationAssertion( "Arterivirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001975"^^xsd:string) AnnotationAssertion(rdfs:label "Arterivirus Infections"^^xsd:string) SubClassOf( ) # Class: (Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:619461"^^xsd:string) "This disease is characterized by severe generalized muscle weakness apparent from birth. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T11:16:49Z"^^xsd:string) AnnotationAssertion( "SYT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619461"^^xsd:string) AnnotationAssertion( "CMS7B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001976"^^xsd:string) AnnotationAssertion(rdfs:label "Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Corpse Dismemberment) AnnotationAssertion(Annotation( "MESH:D056146"^^xsd:string) "Disjoining the limbs or other parts of a corpse, often in association with criminal acts."^^xsd:string) AnnotationAssertion( "MESH:D056146"^^xsd:string) AnnotationAssertion( "Cadaver Dismemberment"^^xsd:string) AnnotationAssertion( "Cadaver Dismemberments"^^xsd:string) AnnotationAssertion( "Corpse Dismemberments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001977"^^xsd:string) AnnotationAssertion(rdfs:label "Corpse Dismemberment"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Amaurosis Hypertrichosis) AnnotationAssertion( "MIM:204110"^^xsd:string) AnnotationAssertion( "MESH:C536604"^^xsd:string) AnnotationAssertion( "Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis"^^xsd:string) AnnotationAssertion( "Cone-rod congenital amaurosis associated with congenital hypertrichosis"^^xsd:string) AnnotationAssertion( "cone-rod type congenital amaurosis with congenital hypertrichosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001979"^^xsd:string) AnnotationAssertion(rdfs:label "Amaurosis Hypertrichosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Feline Infectious Peritonitis) AnnotationAssertion(Annotation( "MESH:D016766"^^xsd:string) "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (CORONAVIRUS, FELINE). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis."^^xsd:string) AnnotationAssertion( "MESH:D016766"^^xsd:string) AnnotationAssertion( "Feline Infectious Peritonitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001980"^^xsd:string) AnnotationAssertion(rdfs:label "Feline Infectious Peritonitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Weight Loss) AnnotationAssertion(Annotation( "MESH:D015431"^^xsd:string) "Decrease in existing BODY WEIGHT."^^xsd:string) AnnotationAssertion( "MESH:D015431"^^xsd:string) AnnotationAssertion( "Weight Losses"^^xsd:string) AnnotationAssertion( "Weight Reduction"^^xsd:string) AnnotationAssertion( "Weight Reductions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001981"^^xsd:string) AnnotationAssertion(rdfs:label "Weight Loss"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified) AnnotationAssertion( "MIM:130090"^^xsd:string) AnnotationAssertion( "MESH:C562424"^^xsd:string) AnnotationAssertion( "EDS, unspecified"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Friedman-Harrod Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001982"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified"^^xsd:string) SubClassOf( ) # Class: (Harderoporphyria) AnnotationAssertion( "MIM:618892"^^xsd:string) AnnotationAssertion( "MESH:C562816"^^xsd:string) AnnotationAssertion( "HARPO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001983"^^xsd:string) AnnotationAssertion(rdfs:label "Harderoporphyria"^^xsd:string) SubClassOf( ) # Class: (Fetal Diseases) AnnotationAssertion(Annotation( "MESH:D005315"^^xsd:string) "Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES."^^xsd:string) AnnotationAssertion( "MESH:D005315"^^xsd:string) AnnotationAssertion( "Embryopathies"^^xsd:string) AnnotationAssertion( "Embryopathy"^^xsd:string) AnnotationAssertion( "Fetal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001984"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Transmissible Enteritis, of Turkeys) AnnotationAssertion(Annotation( "MESH:D004753"^^xsd:string) "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a CORONAVIRUS."^^xsd:string) AnnotationAssertion( "MESH:D004753"^^xsd:string) AnnotationAssertion( "Bluecomb of Turkeys"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001985"^^xsd:string) AnnotationAssertion(rdfs:label "Transmissible Enteritis, of Turkeys"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Dysalbuminemic Hyperthyroxinemia) AnnotationAssertion(Annotation( "MESH:D050010"^^xsd:string) "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4."^^xsd:string) AnnotationAssertion( "MESH:C566305"^^xsd:string) AnnotationAssertion( "MIM:615999"^^xsd:string) AnnotationAssertion( "MESH:D050010"^^xsd:string) AnnotationAssertion( "FDAH"^^xsd:string) AnnotationAssertion( "FDH"^^xsd:string) AnnotationAssertion( "dysalbuminemic hyperthyroxinemia"^^xsd:string) AnnotationAssertion( "euthyroid hyperthyroxinemia 1"^^xsd:string) AnnotationAssertion( "dysalbuminemic hypertriiodothyroninemia"^^xsd:string) AnnotationAssertion( "familial dysalbuminemic hypertriiodothyroninemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001986"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Dysalbuminemic Hyperthyroxinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trichostasis Spinulosa) AnnotationAssertion( "MESH:C536558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001987"^^xsd:string) AnnotationAssertion(rdfs:label "Trichostasis Spinulosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhabdoid Tumor Predisposition Syndrome 2) AnnotationAssertion( "MIM:613325"^^xsd:string) AnnotationAssertion( "SMARCA4-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "SMARCA4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567643"^^xsd:string) AnnotationAssertion( "RDO:0015659"^^xsd:string) AnnotationAssertion( "RTPS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001988"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabdoid Tumor Predisposition Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Folate-Sensitive Neural Tube Defects) AnnotationAssertion( "MIM:601634"^^xsd:string) AnnotationAssertion( "MTHFD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536409"^^xsd:string) AnnotationAssertion( "NTDFS"^^xsd:string) AnnotationAssertion( "folate-sensitive neural tube defect"^^xsd:string) AnnotationAssertion( "NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Neural tube defects, folate-sensitive, susceptibility to"^^xsd:string) AnnotationAssertion( "SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9001989"^^xsd:string) AnnotationAssertion(rdfs:label "Folate-Sensitive Neural Tube Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meckel Syndrome 14) AnnotationAssertion(Annotation( "MIM:619879"^^xsd:string) "A lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Caused by homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-13T13:56:42Z"^^xsd:string) AnnotationAssertion( "MIM:619879"^^xsd:string) AnnotationAssertion( "MKS14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001990"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel Syndrome 14"^^xsd:string) SubClassOf( ) # Class: (Renal-Hepatic-Pancreatic Dysplasia 1) AnnotationAssertion( "MIM:208540"^^xsd:string) AnnotationAssertion( "RHPD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001991"^^xsd:string) AnnotationAssertion(rdfs:label "Renal-Hepatic-Pancreatic Dysplasia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Monosomy 3q21 23) AnnotationAssertion( "MESH:C536809"^^xsd:string) AnnotationAssertion( "Deletion 3q21 23"^^xsd:string) AnnotationAssertion( "Monosomy 3q21 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001992"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3q21 23"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa 76) AnnotationAssertion( "MIM:617123"^^xsd:string) AnnotationAssertion( "RP76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001993"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 76"^^xsd:string) SubClassOf( ) # Class: (Synpolydactyly 2) AnnotationAssertion( "MIM:608180"^^xsd:string) AnnotationAssertion( "MESH:C564278"^^xsd:string) AnnotationAssertion( "SPD2"^^xsd:string) AnnotationAssertion( "SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001994"^^xsd:string) AnnotationAssertion(rdfs:label "Synpolydactyly 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Actinic Cheilitis) AnnotationAssertion( "MESH:C535669"^^xsd:string) AnnotationAssertion( "Actinic cheilosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001995"^^xsd:string) AnnotationAssertion(rdfs:label "Actinic Cheilitis"^^xsd:string) SubClassOf( ) # Class: (Sensorineural Deafness with Mild Renal Dysfunction) AnnotationAssertion( "MESH:C567544"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001996"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Deafness with Mild Renal Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pdgfra-Associated Chronic Eosinophilic Leukemia) AnnotationAssertion( "RDO:0015915"^^xsd:string) AnnotationAssertion( "MESH:C580364"^^xsd:string) AnnotationAssertion( "Pdgfra-associated myeloproliferative neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001997"^^xsd:string) AnnotationAssertion(rdfs:label "Pdgfra-Associated Chronic Eosinophilic Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies) AnnotationAssertion( "MIM:601027"^^xsd:string) AnnotationAssertion( "MESH:C563403"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001998"^^xsd:string) AnnotationAssertion(rdfs:label "Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Agenesis of Corpus Callosum) AnnotationAssertion(Annotation( "MESH:D061085"^^xsd:string) "Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity."^^xsd:string) AnnotationAssertion( "MIM:217990"^^xsd:string) AnnotationAssertion( "MESH:D061085"^^xsd:string) AnnotationAssertion( "Absence of Corpus Callosum"^^xsd:string) AnnotationAssertion( "Corpus Callosum Absence"^^xsd:string) AnnotationAssertion( "Corpus Callosum Ageneses"^^xsd:string) AnnotationAssertion( "Corpus Callosum Agenesis"^^xsd:string) AnnotationAssertion( "Corpus Callosum Dysgenesis"^^xsd:string) AnnotationAssertion( "Corpus Callosum Hypogenesis"^^xsd:string) AnnotationAssertion( "Corpus Callosum Malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9001999"^^xsd:string) AnnotationAssertion(rdfs:label "Agenesis of Corpus Callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Steinfeld Syndrome) AnnotationAssertion( "MIM:184705"^^xsd:string) AnnotationAssertion( "MESH:C566655"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002000"^^xsd:string) AnnotationAssertion(rdfs:label "Steinfeld Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Central Hypoventilation Syndrome 3) AnnotationAssertion( "An autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Caused by homozygous mutation in the LBX1 gene on chromosome 10q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T12:35:12Z"^^xsd:string) AnnotationAssertion( "MIM:619483"^^xsd:string) AnnotationAssertion( "CCHS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002001"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Central Hypoventilation Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Opportunistic Infections) AnnotationAssertion(Annotation( "MESH:D009894"^^xsd:string) "An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression."^^xsd:string) AnnotationAssertion( "MESH:D009894"^^xsd:string) AnnotationAssertion( "Opportunistic Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002002"^^xsd:string) AnnotationAssertion(rdfs:label "Opportunistic Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Three M Syndrome 3) AnnotationAssertion( "MIM:614205"^^xsd:string) AnnotationAssertion( "3M Syndrome 3"^^xsd:string) AnnotationAssertion( "3M3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002003"^^xsd:string) AnnotationAssertion(rdfs:label "Three M Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Caudal Duplication Anomaly) AnnotationAssertion( "MIM:607864"^^xsd:string) AnnotationAssertion( "MESH:C564315"^^xsd:string) AnnotationAssertion( "RDO:0013323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002004"^^xsd:string) AnnotationAssertion(rdfs:label "Caudal Duplication Anomaly"^^xsd:string) SubClassOf( ) # Class: (Deficiency of Plasma Clot Retraction Factor) AnnotationAssertion( "MIM:262800"^^xsd:string) AnnotationAssertion( "MESH:C564885"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002005"^^xsd:string) AnnotationAssertion(rdfs:label "Deficiency of Plasma Clot Retraction Factor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Typical Teratoid Rhabdoid Tumor) AnnotationAssertion( "RDO:0016033"^^xsd:string) AnnotationAssertion( "MESH:C000597569"^^xsd:string) AnnotationAssertion( "Teratoid Rhabdoid Tumor"^^xsd:string) AnnotationAssertion( "Teratoma Rhabdoid Tumor"^^xsd:string) AnnotationAssertion( "Typical Teratoma Rhabdoid Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002006"^^xsd:string) AnnotationAssertion(rdfs:label "Typical Teratoid Rhabdoid Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hersh Podruch Weisskopf Syndrome) AnnotationAssertion( "MESH:C538114"^^xsd:string) AnnotationAssertion( "PMID:4039753"^^xsd:string) AnnotationAssertion( "Toluene embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002007"^^xsd:string) AnnotationAssertion(rdfs:label "Hersh Podruch Weisskopf Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BROWN SYNDROME) AnnotationAssertion(Annotation( "MIM:616407"^^xsd:string) "This disease is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-10T12:37:28Z"^^xsd:string) AnnotationAssertion( "MIM:616407"^^xsd:string) AnnotationAssertion( "BRWNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002008"^^xsd:string) AnnotationAssertion(rdfs:label "BROWN SYNDROME"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Bile Acid Malabsorption 2) AnnotationAssertion( "An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. Caused by homozygous mutation in the SLC51B gene on chromosome 15q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T10:32:12Z"^^xsd:string) AnnotationAssertion( "MIM:619481"^^xsd:string) AnnotationAssertion( "PBAM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002010"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Bile Acid Malabsorption 2"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9) AnnotationAssertion(Annotation( "MIM:618426"^^xsd:string) "An autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-05T13:27:13Z"^^xsd:string) AnnotationAssertion( "MIM:618426"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9"^^xsd:string) AnnotationAssertion( "IIAE9"^^xsd:string) AnnotationAssertion( "DOID:9002011"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken Syndrome 3) AnnotationAssertion( "MIM:606995"^^xsd:string) AnnotationAssertion( "MESH:C564637"^^xsd:string) AnnotationAssertion( "SLSN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002012"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Post-Traumatic Headache) AnnotationAssertion(Annotation( "MESH:D051298"^^xsd:string) "Secondary headache attributed to TRAUMA of the HEAD and/or the NECK."^^xsd:string) AnnotationAssertion( "MESH:D051298"^^xsd:string) AnnotationAssertion( "RDO:0007578"^^xsd:string) AnnotationAssertion( "Cervicogenic Headache"^^xsd:string) AnnotationAssertion( "Cervicogenic Headaches"^^xsd:string) AnnotationAssertion( "Post-Traumatic Headaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002014"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Traumatic Headache"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 13) AnnotationAssertion( "MIM:611928"^^xsd:string) AnnotationAssertion( "MESH:C567456"^^xsd:string) AnnotationAssertion( "HPC13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002015"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 13"^^xsd:string) SubClassOf( ) # Class: (SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE) AnnotationAssertion(Annotation( "MIM:617974"^^xsd:string) "A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-18T13:36:47Z"^^xsd:string) AnnotationAssertion( "MIM:617974"^^xsd:string) AnnotationAssertion( "SEMDDR"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia of the Di Rocco type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002016"^^xsd:string) AnnotationAssertion(rdfs:label "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE"^^xsd:string) SubClassOf( ) # Class: (Folate-Responsive Megaloblastic Anemia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T13:18:45Z"^^xsd:string) AnnotationAssertion( "MIM:601775"^^xsd:string) AnnotationAssertion( "MEGAF"^^xsd:string) AnnotationAssertion( "folate level in erythrocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002017"^^xsd:string) AnnotationAssertion(rdfs:label "Folate-Responsive Megaloblastic Anemia"^^xsd:string) SubClassOf( ) # Class: (Pneumocephalus) AnnotationAssertion(Annotation( "MESH:D011007"^^xsd:string) "Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions."^^xsd:string) AnnotationAssertion( "EFO:1001398"^^xsd:string) AnnotationAssertion( "MESH:D011007"^^xsd:string) AnnotationAssertion( "RDO:0006366"^^xsd:string) AnnotationAssertion( "Cranial Airocele"^^xsd:string) AnnotationAssertion( "Cranial Airoceles"^^xsd:string) AnnotationAssertion( "Cranial Pneumocyst"^^xsd:string) AnnotationAssertion( "Cranial Pneumocysts"^^xsd:string) AnnotationAssertion( "Epidural Pneumocephalus"^^xsd:string) AnnotationAssertion( "Intracranial Gas"^^xsd:string) AnnotationAssertion( "Pressure Pneumocephalus"^^xsd:string) AnnotationAssertion( "Tension Pneumocephalus"^^xsd:string) AnnotationAssertion( "Traumatic Pneumocephalus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002018"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumocephalus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Granuloma) AnnotationAssertion(Annotation( "MESH:D006099"^^xsd:string) "A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents."^^xsd:string) AnnotationAssertion( "EFO:0009462"^^xsd:string) AnnotationAssertion( "MESH:D006099"^^xsd:string) AnnotationAssertion( "NCI:C3064"^^xsd:string) AnnotationAssertion( "Granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002019"^^xsd:string) AnnotationAssertion(rdfs:label "Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Health Wellness 1) AnnotationAssertion( "MIM:603663"^^xsd:string) AnnotationAssertion( "RDO:0008896"^^xsd:string) AnnotationAssertion( "MHW1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002020"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Health Wellness 1"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined) AnnotationAssertion( "MIM:302900"^^xsd:string) AnnotationAssertion( "MESH:C564446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002021"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Smooth Muscle Neoplasm) AnnotationAssertion(Annotation( "NCI:C6510"^^xsd:string) "This is a benign mesenchymal neoplasm arising from smooth muscle tissue."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-12T15:28:17Z"^^xsd:string) AnnotationAssertion( "EFO:1000121"^^xsd:string) AnnotationAssertion( "Benign Smooth Muscle Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002022"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Smooth Muscle Neoplasm"^^xsd:string) SubClassOf( ) # Class: (Leukotriene C4 Synthase Deficiency) AnnotationAssertion( "MIM:614037"^^xsd:string) AnnotationAssertion( "MESH:C565439"^^xsd:string) AnnotationAssertion( "LTC4 Synthase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002023"^^xsd:string) AnnotationAssertion(rdfs:label "Leukotriene C4 Synthase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hydrocephalus, Skeletal Anomalies, and Mental Disturbance) AnnotationAssertion( "MESH:C563413"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002024"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrocephalus, Skeletal Anomalies, and Mental Disturbance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Visceral Myopathy) AnnotationAssertion( "MESH:C562574"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002025"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Visceral Myopathy"^^xsd:string) SubClassOf( ) # Class: (Eagle Syndrome) AnnotationAssertion( "MESH:C538010"^^xsd:string) AnnotationAssertion( "Eagle's syndrome"^^xsd:string) AnnotationAssertion( "Elongated styloid process syndrome"^^xsd:string) AnnotationAssertion( "Styloid-stylohoid syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002026"^^xsd:string) AnnotationAssertion(rdfs:label "Eagle Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA) AnnotationAssertion( "MIM:617021"^^xsd:string) AnnotationAssertion( "HLASA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002027"^^xsd:string) AnnotationAssertion(rdfs:label "HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tuberculosis, Male Genital) AnnotationAssertion(Annotation( "MESH:D014389"^^xsd:string) "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)."^^xsd:string) AnnotationAssertion( "EFO:1001030"^^xsd:string) AnnotationAssertion( "MESH:D014389"^^xsd:string) AnnotationAssertion( "RDO:0006768"^^xsd:string) AnnotationAssertion( "Male Genital Tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002028"^^xsd:string) AnnotationAssertion(rdfs:label "Tuberculosis, Male Genital"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Indolylacroyl Glycinuria with Mental Retardation) AnnotationAssertion( "MIM:243050"^^xsd:string) AnnotationAssertion( "MESH:C565466"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002029"^^xsd:string) AnnotationAssertion(rdfs:label "Indolylacroyl Glycinuria with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CIMDAG SYNDROME) AnnotationAssertion(Annotation( "MIM:619273"^^xsd:string) "This disease is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-13T11:23:28Z"^^xsd:string) AnnotationAssertion( "MIM:619273"^^xsd:string) AnnotationAssertion( "CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION"^^xsd:string) AnnotationAssertion( "CIMDAG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002030"^^xsd:string) AnnotationAssertion(rdfs:label "CIMDAG SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Frontotemporal Lobar Degeneration) AnnotationAssertion(Annotation( "MESH:D057174"^^xsd:string) "Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA."^^xsd:string) AnnotationAssertion( "MESH:D057174"^^xsd:string) AnnotationAssertion( "FTLD"^^xsd:string) AnnotationAssertion( "FTLDs"^^xsd:string) AnnotationAssertion( "Frontotemporal Lobar Degenerations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002031"^^xsd:string) AnnotationAssertion(rdfs:label "Frontotemporal Lobar Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prodromal Symptoms) AnnotationAssertion(Annotation( "MESH:D062706"^^xsd:string) "Clinical or physiological indicators that precede the onset of disease."^^xsd:string) AnnotationAssertion( "MESH:D062706"^^xsd:string) AnnotationAssertion( "Prodromal Characteristic"^^xsd:string) AnnotationAssertion( "Prodromal Period"^^xsd:string) AnnotationAssertion( "Prodromal Periods"^^xsd:string) AnnotationAssertion( "Prodromal Sign"^^xsd:string) AnnotationAssertion( "Prodromal Signs"^^xsd:string) AnnotationAssertion( "Prodromal Stage"^^xsd:string) AnnotationAssertion( "Prodromal Stages"^^xsd:string) AnnotationAssertion( "Prodromal State"^^xsd:string) AnnotationAssertion( "Prodromal States"^^xsd:string) AnnotationAssertion( "Prodromal Symptom"^^xsd:string) AnnotationAssertion( "Prodromal Syndrome"^^xsd:string) AnnotationAssertion( "prodromal characteristics"^^xsd:string) AnnotationAssertion( "prodromal syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002032"^^xsd:string) AnnotationAssertion(rdfs:label "Prodromal Symptoms"^^xsd:string) SubClassOf( ) # Class: (Knobloch Syndrome) AnnotationAssertion( "GARD:380"^^xsd:string) AnnotationAssertion( "MESH:C537209"^^xsd:string) AnnotationAssertion( "MIM:PS267750"^^xsd:string) AnnotationAssertion( "KNO"^^xsd:string) AnnotationAssertion( "Passos-Bueno syndrome"^^xsd:string) AnnotationAssertion( "Retinal Detachment and Occipital Encephalocele"^^xsd:string) AnnotationAssertion( "retinal detachment, occipital encephalocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002033"^^xsd:string) AnnotationAssertion(rdfs:label "Knobloch Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Cutis Laxa) AnnotationAssertion( "MESH:C536225"^^xsd:string) AnnotationAssertion( "recessive cutis laxa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002034"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Cutis Laxa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly) AnnotationAssertion( "MIM:608885"^^xsd:string) AnnotationAssertion( "MESH:C563840"^^xsd:string) AnnotationAssertion( "GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS"^^xsd:string) AnnotationAssertion( "SDCHCN"^^xsd:string) AnnotationAssertion( "Stomatin-Deficient Cryohydrocytosis with Neurologic Defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002035"^^xsd:string) AnnotationAssertion(rdfs:label "Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chondrocalcinosis 1) AnnotationAssertion( "MIM:600668"^^xsd:string) AnnotationAssertion( "MESH:C535938"^^xsd:string) AnnotationAssertion( "CCAL1"^^xsd:string) AnnotationAssertion( "CPPDD1"^^xsd:string) AnnotationAssertion( "Chondrocalcinosis with early-onset osteoarthritis"^^xsd:string) AnnotationAssertion( "calcium pyrophosphate dihydrate deposition disease 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002036"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrocalcinosis 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermodysplasia Verruciformis, X-Linked) AnnotationAssertion( "MIM:305350"^^xsd:string) AnnotationAssertion( "MESH:C564430"^^xsd:string) AnnotationAssertion( "EDV2"^^xsd:string) AnnotationAssertion( "EDVX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002037"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 10) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-08T11:11:49Z"^^xsd:string) AnnotationAssertion( "MIM:619176"^^xsd:string) AnnotationAssertion( "OOMD10"^^xsd:string) AnnotationAssertion( "OZEMA10"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002039"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 10"^^xsd:string) SubClassOf( ) # Class: (RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS) AnnotationAssertion( "MIM:616959"^^xsd:string) AnnotationAssertion( "RDO:9001201"^^xsd:string) AnnotationAssertion( "RPEM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002040"^^xsd:string) AnnotationAssertion(rdfs:label "RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS"^^xsd:string) SubClassOf( ) # Class: (Poor Metabolism of Thiopurines, 2) AnnotationAssertion( "A severe hematopoietic toxicity upon treatment of patients with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-05-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616903"^^xsd:string) AnnotationAssertion( "THPM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002041"^^xsd:string) AnnotationAssertion(rdfs:label "Poor Metabolism of Thiopurines, 2"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 69) AnnotationAssertion(Annotation( "MIM:619826"^^xsd:string) "Characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome. Caused by homozygous mutation in the gametogenetin gene (GGN) on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T10:27:47Z"^^xsd:string) AnnotationAssertion( "MIM:619826"^^xsd:string) AnnotationAssertion( "SPGF69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002042"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 69"^^xsd:string) SubClassOf( ) # Class: (Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline) AnnotationAssertion(Annotation( "MIM:618868"^^xsd:string) "An autosomal recessive progressive disorder with onset of symptoms in the first decade."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-04T13:05:22Z"^^xsd:string) AnnotationAssertion( "MIM:618868"^^xsd:string) AnnotationAssertion( "CONATOC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002043"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ansell Bywaters Elderking Syndrome) AnnotationAssertion( "MESH:C537773"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002044"^^xsd:string) AnnotationAssertion(rdfs:label "Ansell Bywaters Elderking Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Aspiration of Gastric Contents) AnnotationAssertion(Annotation( "MESH:D063466"^^xsd:string) "Inhaling refluxed gastric or duodenal contents."^^xsd:string) AnnotationAssertion( "MESH:D063466"^^xsd:string) AnnotationAssertion( "RDO:0012118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002045"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Aspiration of Gastric Contents"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries) AnnotationAssertion( "MIM:159050"^^xsd:string) AnnotationAssertion( "RDO:0012781"^^xsd:string) AnnotationAssertion( "MESH:C563554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002046"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-07T10:01:25Z"^^xsd:string) AnnotationAssertion( "MIM:263450"^^xsd:string) AnnotationAssertion( "PAPA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002047"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A5"^^xsd:string) SubClassOf( ) # Class: (Dentofacial Deformities) AnnotationAssertion(Annotation( "MESH:D063169"^^xsd:string) "An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital."^^xsd:string) AnnotationAssertion( "MESH:D063169"^^xsd:string) AnnotationAssertion( "Dentofacial Abnormalities"^^xsd:string) AnnotationAssertion( "Dentofacial Abnormality"^^xsd:string) AnnotationAssertion( "Dentofacial Deformity"^^xsd:string) AnnotationAssertion( "Dentofacial Dyplasia"^^xsd:string) AnnotationAssertion( "Dentofacial Dyplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002048"^^xsd:string) AnnotationAssertion(rdfs:label "Dentofacial Deformities"^^xsd:string) SubClassOf( ) # Class: (Anophthalmia) AnnotationAssertion(Annotation( "MESH:D000853"^^xsd:string) "Congenital absence of the eye or eyes."^^xsd:string) AnnotationAssertion( "MESH:D000853"^^xsd:string) AnnotationAssertion( "anophthalmias"^^xsd:string) AnnotationAssertion( "anophthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002049"^^xsd:string) AnnotationAssertion(rdfs:label "Anophthalmia"^^xsd:string) SubClassOf( ) # Class: (Flavobacteriaceae Infections) AnnotationAssertion(Annotation( "MESH:D045826"^^xsd:string) "Infections with bacteria of the family FLAVOBACTERIACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001327"^^xsd:string) AnnotationAssertion( "MESH:D045826"^^xsd:string) AnnotationAssertion( "Flavobacteriaceae Infection"^^xsd:string) AnnotationAssertion( "Flavobacteriaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002050"^^xsd:string) AnnotationAssertion(rdfs:label "Flavobacteriaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Sandhoff Disease, Juvenile Type) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002051"^^xsd:string) AnnotationAssertion(rdfs:label "Sandhoff Disease, Juvenile Type"^^xsd:string) SubClassOf( ) # Class: (Neoplasms by Histologic Type) AnnotationAssertion(Annotation( "MESH:D009370"^^xsd:string) "A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers."^^xsd:string) AnnotationAssertion( "MESH:D009370"^^xsd:string) AnnotationAssertion( "RDO:0005983"^^xsd:string) AnnotationAssertion( "Histological Type of Neoplasm"^^xsd:string) AnnotationAssertion( "Histological Types of Neoplasms"^^xsd:string) AnnotationAssertion( "Neoplasm Histological Type"^^xsd:string) AnnotationAssertion( "Neoplasm Histological Types"^^xsd:string) AnnotationAssertion( "Neoplasms Histological Type"^^xsd:string) AnnotationAssertion( "Neoplasms Histological Types"^^xsd:string) AnnotationAssertion( "Neoplasms by Histological Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002052"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasms by Histologic Type"^^xsd:string) SubClassOf( ) # Class: (Furunculosis) AnnotationAssertion(Annotation( "MESH:D005667"^^xsd:string) "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA."^^xsd:string) AnnotationAssertion( "MESH:D005667"^^xsd:string) AnnotationAssertion( "Boils"^^xsd:string) AnnotationAssertion( "Furuncle"^^xsd:string) AnnotationAssertion( "Furuncles"^^xsd:string) AnnotationAssertion( "Furunculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002053"^^xsd:string) AnnotationAssertion(rdfs:label "Furunculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bilateral Temporal Lobe Disorder) AnnotationAssertion( "MESH:C538521"^^xsd:string) AnnotationAssertion( "Memory loss, extreme sexual behavior, placidity, and visual distractibility"^^xsd:string) AnnotationAssertion( "Post-encephalitic Kluver Bucy syndrome"^^xsd:string) AnnotationAssertion( "Post-traumatic Kluver Bucy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002054"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Temporal Lobe Disorder"^^xsd:string) SubClassOf( ) # Class: (Chronic Allograft Nephropathy) AnnotationAssertion( "Chronic, progressive, and irreversible loss of function in a transplanted kidney. It is a multifactorial process associated with progressive interstitial fibrosis and tubular atrophy."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002055"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Allograft Nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arterial Injury) AnnotationAssertion( "Damage to an artery caused by blunt force, penetrating trauma, or iatrogenic manipulation."^^xsd:string) AnnotationAssertion( "RDO:9000059"^^xsd:string) AnnotationAssertion( "arterial injuries"^^xsd:string) AnnotationAssertion( "artery injuries"^^xsd:string) AnnotationAssertion( "artery injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002056"^^xsd:string) AnnotationAssertion(rdfs:label "Arterial Injury"^^xsd:string) SubClassOf( ) # Class: (Arthrogryposis Multiplex Congenita Whistling Face) AnnotationAssertion( "MIM:208155"^^xsd:string) AnnotationAssertion( "MESH:C538401"^^xsd:string) AnnotationAssertion( "ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION"^^xsd:string) AnnotationAssertion( "Arthrogryposis Multiplex Congenita With Whistling Face"^^xsd:string) AnnotationAssertion( "Illium syndrome"^^xsd:string) AnnotationAssertion( "Illum Syndrome"^^xsd:string) AnnotationAssertion( "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002057"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis Multiplex Congenita Whistling Face"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Fragility) AnnotationAssertion(Annotation( "MESH:D002873"^^xsd:string) "Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations."^^xsd:string) AnnotationAssertion( "MESH:D002873"^^xsd:string) AnnotationAssertion( "RDO:0005216"^^xsd:string) AnnotationAssertion( "Chromosomal Fragility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002058"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Fragility"^^xsd:string) SubClassOf( ) # Class: (Developmental and Epileptic Encephalopathy 112) AnnotationAssertion(Annotation( "MIM:620537"^^xsd:string) "An autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Caused by heterozygous mutation in the KCNH5 gene on chromosome 14q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-17T09:17:32Z"^^xsd:string) AnnotationAssertion( "MIM:620537"^^xsd:string) AnnotationAssertion( "DEE112"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002059"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental and Epileptic Encephalopathy 112"^^xsd:string) SubClassOf( ) # Class: (BOUDIN-MORTIER SYNDROME) AnnotationAssertion(Annotation( "MIM:619543"^^xsd:string) "This is a disease characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-14T15:58:32Z"^^xsd:string) AnnotationAssertion( "MIM:619543"^^xsd:string) AnnotationAssertion( "BOMOS"^^xsd:string) AnnotationAssertion( "TALL STATURE AND LONG DIGITS WITH EXTRA EPIPHYSES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002060"^^xsd:string) AnnotationAssertion(rdfs:label "BOUDIN-MORTIER SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudo-TORCH Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-29T15:18:57Z"^^xsd:string) AnnotationAssertion( "MIM:PS251290"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002061"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudo-TORCH Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Erythrokeratodermia Variabilis, Autosomal Recessive) AnnotationAssertion( "MESH:C566391"^^xsd:string) AnnotationAssertion( "RDO:0014758"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002062"^^xsd:string) AnnotationAssertion(rdfs:label "Erythrokeratodermia Variabilis, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Familial Autoinflammatory Syndrome, with or without Immunodeficiency) AnnotationAssertion( "Characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Caused by heterozygous mutation in the SOCS1 gene on chromosome 16p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-23T11:15:10Z"^^xsd:string) AnnotationAssertion( "MIM:619375"^^xsd:string) AnnotationAssertion( "AISIMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002063"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Autoinflammatory Syndrome, with or without Immunodeficiency"^^xsd:string) SubClassOf( ) # Class: (Parkinson's Disease 12) AnnotationAssertion( "MIM:300557"^^xsd:string) AnnotationAssertion( "MESH:C564486"^^xsd:string) AnnotationAssertion( "RDO:0013432"^^xsd:string) AnnotationAssertion( "PARK12"^^xsd:string) AnnotationAssertion( "Parkinson Disease 12"^^xsd:string) AnnotationAssertion( "Parkinson Disease, X-Linked"^^xsd:string) AnnotationAssertion( "Parkinson's Disease, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002064"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 12) AnnotationAssertion( "MIM:614050"^^xsd:string) AnnotationAssertion( "ATFB12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002065"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 12"^^xsd:string) SubClassOf( ) # Class: (Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities) AnnotationAssertion(Annotation( "MIM:620240"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay and muscle weakness apparent in infancy. Caused by homozygous mutation in the GOLGA2 gene on chromosome 9q34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-10T09:16:53Z"^^xsd:string) AnnotationAssertion( "MIM:620240"^^xsd:string) AnnotationAssertion( "DEDHMB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002066"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cyclic Vomiting Syndrome with Neuromuscular Disease) AnnotationAssertion( "MESH:C564022"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002067"^^xsd:string) AnnotationAssertion(rdfs:label "Cyclic Vomiting Syndrome with Neuromuscular Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abnormal Thyroid Hormone Metabolism 1) AnnotationAssertion( "MIM:609698"^^xsd:string) AnnotationAssertion( "MESH:C566454"^^xsd:string) AnnotationAssertion( "Abnormal Thyroid Hormone Metabolism"^^xsd:string) AnnotationAssertion( "THMA"^^xsd:string) AnnotationAssertion( "THMA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002068"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Thyroid Hormone Metabolism 1"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 37) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T13:56:19Z"^^xsd:string) AnnotationAssertion( "MIM:618533"^^xsd:string) AnnotationAssertion( "DFNA37"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002069"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 37"^^xsd:string) SubClassOf( ) # Class: (Sick Sinus Syndrome 4) AnnotationAssertion( "Characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Caused by heterozygous mutation in the GNB2 gene on chromosome 7q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T15:50:16Z"^^xsd:string) AnnotationAssertion( "GNB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619464"^^xsd:string) AnnotationAssertion( "SSS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002070"^^xsd:string) AnnotationAssertion(rdfs:label "Sick Sinus Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Specific Language Impairment 1) AnnotationAssertion( "MIM:606711"^^xsd:string) AnnotationAssertion( "SLI1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002071"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Language Impairment 1"^^xsd:string) SubClassOf( ) # Class: (Winship Viljoen Leary Syndrome) AnnotationAssertion( "MIM:251220"^^xsd:string) AnnotationAssertion( "MESH:C536711"^^xsd:string) AnnotationAssertion( "Microcephaly cardiomyopathy"^^xsd:string) AnnotationAssertion( "Microcephaly with cardiomyopathy"^^xsd:string) AnnotationAssertion( "Microcephaly with mental retardation and dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "Microcephaly-cardiomyopathy syndrome"^^xsd:string) AnnotationAssertion( "Severe microcephaly and self-limiting dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "Severe microcephaly with mental retardation and dilated cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002072"^^xsd:string) AnnotationAssertion(rdfs:label "Winship Viljoen Leary Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pelizaeus-Merzbacher like Brain Sclerosis) AnnotationAssertion( "MIM:213900"^^xsd:string) AnnotationAssertion( "MESH:C536318"^^xsd:string) AnnotationAssertion( "Cerebral sclerosis similar to Pelizaeus-Merzbacher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002073"^^xsd:string) AnnotationAssertion(rdfs:label "Pelizaeus-Merzbacher like Brain Sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (3-Hydroxyisobutyric Aciduria) AnnotationAssertion( "MIM:236795"^^xsd:string) AnnotationAssertion( "MESH:C535312"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002074"^^xsd:string) AnnotationAssertion(rdfs:label "3-Hydroxyisobutyric Aciduria"^^xsd:string) SubClassOf( ) # Class: (Saccharopinuria) AnnotationAssertion( "MIM:268700"^^xsd:string) AnnotationAssertion( "MESH:C537218"^^xsd:string) AnnotationAssertion( "HYPERLYSINEMIA, TYPE II"^^xsd:string) AnnotationAssertion( "alpha aminoadipic semialdehyde deficiency disease"^^xsd:string) AnnotationAssertion( "alpha-aminoadipic semialdehyde synthase deficiency"^^xsd:string) AnnotationAssertion( "saccharopine dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "saccharopine dehydrogenase deficiency disease"^^xsd:string) AnnotationAssertion( "saccharopinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002075"^^xsd:string) AnnotationAssertion(rdfs:label "Saccharopinuria"^^xsd:string) SubClassOf( ) # Class: (USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE) AnnotationAssertion(Annotation( "MIM:619548"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, spasticity, and behavioral abnormalities, most commonly aggressive behavior."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-14T15:23:30Z"^^xsd:string) AnnotationAssertion( "DOID:9006164"^^xsd:string) AnnotationAssertion( "MIM:619548"^^xsd:string) AnnotationAssertion( "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "USRISR"^^xsd:string) AnnotationAssertion( "autosomal recessive Usmani-Riazzudin syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002076"^^xsd:string) AnnotationAssertion(rdfs:label "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2) AnnotationAssertion( "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617086"^^xsd:string) AnnotationAssertion( "MONDO:0014905"^^xsd:string) AnnotationAssertion( "ORDO:485421"^^xsd:string) AnnotationAssertion( "EMPF2"^^xsd:string) AnnotationAssertion( "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome"^^xsd:string) AnnotationAssertion( "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002077"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2"^^xsd:string) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 8) AnnotationAssertion( "A neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T17:03:00Z"^^xsd:string) AnnotationAssertion( "MIM:618185"^^xsd:string) AnnotationAssertion( "PVNH8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002078"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 8"^^xsd:string) SubClassOf( ) # Class: (Paresis) AnnotationAssertion(Annotation( "MESH:D010291"^^xsd:string) "A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS."^^xsd:string) AnnotationAssertion( "MESH:D010291"^^xsd:string) AnnotationAssertion( "Brachial Pareses"^^xsd:string) AnnotationAssertion( "Brachial Paresis"^^xsd:string) AnnotationAssertion( "Crural Pareses"^^xsd:string) AnnotationAssertion( "Crural Paresis"^^xsd:string) AnnotationAssertion( "Hemipareses"^^xsd:string) AnnotationAssertion( "Hemiparesis"^^xsd:string) AnnotationAssertion( "Lower Extremity Pareses"^^xsd:string) AnnotationAssertion( "Lower Extremity Paresis"^^xsd:string) AnnotationAssertion( "Monopareses"^^xsd:string) AnnotationAssertion( "Monoparesis"^^xsd:string) AnnotationAssertion( "Muscle Pareses"^^xsd:string) AnnotationAssertion( "Muscle Paresis"^^xsd:string) AnnotationAssertion( "Muscular Pareses"^^xsd:string) AnnotationAssertion( "Muscular Paresis"^^xsd:string) AnnotationAssertion( "Pareses"^^xsd:string) AnnotationAssertion( "Upper Extremity Pareses"^^xsd:string) AnnotationAssertion( "Upper Extremity Paresis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002079"^^xsd:string) AnnotationAssertion(rdfs:label "Paresis"^^xsd:string) SubClassOf( ) # Class: (Anterior Cervical Hypertrichosis) AnnotationAssertion( "MIM:600457"^^xsd:string) AnnotationAssertion( "MESH:C538390"^^xsd:string) AnnotationAssertion( "Hairy throat"^^xsd:string) AnnotationAssertion( "Hairy throat syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002080"^^xsd:string) AnnotationAssertion(rdfs:label "Anterior Cervical Hypertrichosis"^^xsd:string) SubClassOf( ) # Class: (Long QT Syndrome 2/3) AnnotationAssertion( "RDO:0014376"^^xsd:string) AnnotationAssertion( "MESH:C565841"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 2/3, DIGENIC"^^xsd:string) AnnotationAssertion( "LQT2/3, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002081"^^xsd:string) AnnotationAssertion(rdfs:label "Long QT Syndrome 2/3"^^xsd:string) SubClassOf( ) # Class: (Prolonged Pregnancy) AnnotationAssertion(Annotation( "MESH:D011273"^^xsd:string) "A term used to describe pregnancies that exceed the upper limit of a normal gestational period. In humans, a prolonged pregnancy is defined as one that extends beyond 42 weeks (294 days) after the first day of the last menstrual period (MENSTRUATION), or birth with gestational age of 41 weeks or more."^^xsd:string) AnnotationAssertion( "EFO:0009681"^^xsd:string) AnnotationAssertion( "MESH:D011273"^^xsd:string) AnnotationAssertion( "Prolonged Pregnancies"^^xsd:string) AnnotationAssertion( "post term pregnancy"^^xsd:string) AnnotationAssertion( "post-term pregnancy"^^xsd:string) AnnotationAssertion( "postterm pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002082"^^xsd:string) AnnotationAssertion(rdfs:label "Prolonged Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Branchiootic Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-24T14:10:59Z"^^xsd:string) AnnotationAssertion( "MIM:602588"^^xsd:string) AnnotationAssertion( "BO syndrome 1"^^xsd:string) AnnotationAssertion( "BOS1"^^xsd:string) AnnotationAssertion( "anterior segment anomalies with or without cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002083"^^xsd:string) AnnotationAssertion(rdfs:label "Branchiootic Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Chromosome 5, Trisomy 5p) AnnotationAssertion( "MESH:C537648"^^xsd:string) AnnotationAssertion( "RDO:0003525"^^xsd:string) AnnotationAssertion( "Chromosome 5, Trisomy 5p, Complete (5p11-pter)"^^xsd:string) AnnotationAssertion( "Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter)"^^xsd:string) AnnotationAssertion( "Chromosome 5p syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002084"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 5, Trisomy 5p"^^xsd:string) SubClassOf( ) # Class: (Congenital Cholesteatoma) AnnotationAssertion( "MIM:604183"^^xsd:string) AnnotationAssertion( "MESH:C562858"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002085"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Cholesteatoma"^^xsd:string) SubClassOf( ) # Class: (Split-Hand-Foot Malformation with Long Bone Deficiency 1) AnnotationAssertion( "MIM:119100"^^xsd:string) AnnotationAssertion( "RDO:0002020"^^xsd:string) AnnotationAssertion( "MESH:C536425"^^xsd:string) AnnotationAssertion( "Cleft Hand And Absent Tibia"^^xsd:string) AnnotationAssertion( "Cleft hand absent tibia"^^xsd:string) AnnotationAssertion( "Ectrodactyly with aplasia of long bones"^^xsd:string) AnnotationAssertion( "SHFLD"^^xsd:string) AnnotationAssertion( "SHFLD1"^^xsd:string) AnnotationAssertion( "Split-hand-foot malformation with long bone deficiency"^^xsd:string) AnnotationAssertion( "aplasia of tibia with ectrodactyly"^^xsd:string) AnnotationAssertion( "tibial aplasia with split-hand-split-foot deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002086"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Hand-Foot Malformation with Long Bone Deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Silicotuberculosis) AnnotationAssertion(Annotation( "MESH:D012830"^^xsd:string) "Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis."^^xsd:string) AnnotationAssertion( "MESH:D012830"^^xsd:string) AnnotationAssertion( "silicotuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002087"^^xsd:string) AnnotationAssertion(rdfs:label "Silicotuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tumor Predisposition Syndrome 1) AnnotationAssertion( "This is a condition in which individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors."^^xsd:string) AnnotationAssertion( "MIM:614327"^^xsd:string) AnnotationAssertion( "BAP1 Cancer Syndrome"^^xsd:string) AnnotationAssertion( "BAP1 TUMOR PREDISPOSITION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS"^^xsd:string) AnnotationAssertion( "DOID:9002089"^^xsd:string) AnnotationAssertion(rdfs:label "Tumor Predisposition Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Galactorrhea) AnnotationAssertion(Annotation( "MESH:D005687"^^xsd:string) "Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA."^^xsd:string) AnnotationAssertion( "MIM:230300"^^xsd:string) AnnotationAssertion( "MESH:D005687"^^xsd:string) AnnotationAssertion( "Galactorrheas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002090"^^xsd:string) AnnotationAssertion(rdfs:label "Galactorrhea"^^xsd:string) SubClassOf( ) # Class: (Paragangliomas 5) AnnotationAssertion( "MIM:614165"^^xsd:string) AnnotationAssertion( "PGL5"^^xsd:string) AnnotationAssertion( "PPGL5"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002091"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 5"^^xsd:string) SubClassOf( ) # Class: (Tubular Aggregate Myopathies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-18T19:20:14Z"^^xsd:string) AnnotationAssertion( "GARD:3884"^^xsd:string) AnnotationAssertion( "ORDO:2593"^^xsd:string) AnnotationAssertion( "TAM"^^xsd:string) AnnotationAssertion( "myopathy with tubular aggregates"^^xsd:string) AnnotationAssertion( "tubular aggregate myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002092"^^xsd:string) AnnotationAssertion(rdfs:label "Tubular Aggregate Myopathies"^^xsd:string) SubClassOf( ) # Class: (Lysine Intolerance) AnnotationAssertion( "MESH:C563201"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002093"^^xsd:string) AnnotationAssertion(rdfs:label "Lysine Intolerance"^^xsd:string) SubClassOf( ) # Class: (HIV Enteropathy) AnnotationAssertion(Annotation( "MESH:D019053"^^xsd:string) "A syndrome characterized by chronic, well-established DIARRHEA (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an HIV-positive individual. It is thought to be due to direct or indirect effects of HIV on the enteric mucosa. HIV enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)"^^xsd:string) AnnotationAssertion( "EFO:0007311"^^xsd:string) AnnotationAssertion( "MESH:D019053"^^xsd:string) AnnotationAssertion( "AIDS Associated Enteropathy"^^xsd:string) AnnotationAssertion( "AIDS Enteropathies"^^xsd:string) AnnotationAssertion( "AIDS Enteropathy"^^xsd:string) AnnotationAssertion( "AIDS-Associated Enteropathies"^^xsd:string) AnnotationAssertion( "HIV Associated Enteropathy"^^xsd:string) AnnotationAssertion( "HIV Enteropathies"^^xsd:string) AnnotationAssertion( "HIV-Associated Enteropathies"^^xsd:string) AnnotationAssertion( "Idiopathic AIDS Enteropathies"^^xsd:string) AnnotationAssertion( "Idiopathic AIDS Enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002094"^^xsd:string) AnnotationAssertion(rdfs:label "HIV Enteropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619470"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T15:15:55Z"^^xsd:string) AnnotationAssertion( "MIM:619470"^^xsd:string) AnnotationAssertion( "NEDMOSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002095"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: (Foot Injuries) AnnotationAssertion(Annotation( "MESH:D018409"^^xsd:string) "General or unspecified injuries involving the foot."^^xsd:string) AnnotationAssertion( "MESH:D018409"^^xsd:string) AnnotationAssertion( "Foot Injury"^^xsd:string) AnnotationAssertion( "Turf Toe"^^xsd:string) AnnotationAssertion( "Turf Toes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002096"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Injuries"^^xsd:string) SubClassOf( ) # Class: (High Cardiac Output) AnnotationAssertion(Annotation( "MESH:D016534"^^xsd:string) "A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE."^^xsd:string) AnnotationAssertion( "MESH:D016534"^^xsd:string) AnnotationAssertion( "High Cardiac Outputs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002097"^^xsd:string) AnnotationAssertion(rdfs:label "High Cardiac Output"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tick-Borne Diseases) AnnotationAssertion(Annotation( "MESH:D017282"^^xsd:string) "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic."^^xsd:string) AnnotationAssertion( "MESH:D017282"^^xsd:string) AnnotationAssertion( "Tick Borne Infections"^^xsd:string) AnnotationAssertion( "Tick-Borne Disease"^^xsd:string) AnnotationAssertion( "Tick-Borne Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002098"^^xsd:string) AnnotationAssertion(rdfs:label "Tick-Borne Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thalamic Degeneration Symmetrical Infantile) AnnotationAssertion( "MIM:273490"^^xsd:string) AnnotationAssertion( "MESH:C536504"^^xsd:string) AnnotationAssertion( "Thalamic Degeneration, Symmetric Infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002099"^^xsd:string) AnnotationAssertion(rdfs:label "Thalamic Degeneration Symmetrical Infantile"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (chemotherapy-induced alopecia) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-12T12:42:02Z"^^xsd:string) AnnotationAssertion( "EFO:0005400"^^xsd:string) AnnotationAssertion( "chemotherapy-induced hair loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002102"^^xsd:string) AnnotationAssertion(rdfs:label "chemotherapy-induced alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spontaneous Perforation) AnnotationAssertion(Annotation( "MESH:D000072663"^^xsd:string) "A pathological hole in an organ, blood vessel or other soft part of the body, occurring in the absence of external force."^^xsd:string) AnnotationAssertion( "MESH:D000072663"^^xsd:string) AnnotationAssertion( "Spontaneous Perforations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002103"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Perforation"^^xsd:string) SubClassOf( ) # Class: (Chromosome 21, Monosomy 21q22) AnnotationAssertion( "MESH:C537110"^^xsd:string) AnnotationAssertion( "Deletion 21q22"^^xsd:string) AnnotationAssertion( "Monosomy 21q22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002104"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 21, Monosomy 21q22"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pneumococcal Pneumonia) AnnotationAssertion(Annotation( "MESH:D011018"^^xsd:string) "A febrile disease caused by STREPTOCOCCUS PNEUMONIAE."^^xsd:string) AnnotationAssertion( "EFO:1001474"^^xsd:string) AnnotationAssertion( "MESH:D011018"^^xsd:string) AnnotationAssertion( "Pneumococcal Pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002106"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumococcal Pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53) AnnotationAssertion( "MESH:C538201"^^xsd:string) AnnotationAssertion( "RDO:0004144"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002107"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53"^^xsd:string) SubClassOf( ) # Class: (Camptodactyly Vertebral Fusion) AnnotationAssertion( "MESH:C537973"^^xsd:string) AnnotationAssertion( "Camptodactyly and sacral vertebral fusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002108"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Vertebral Fusion"^^xsd:string) SubClassOf( ) # Class: (STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS) AnnotationAssertion(Annotation( "MIM:618736"^^xsd:string) "A disease characterized by small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-17T14:49:11Z"^^xsd:string) AnnotationAssertion( "MIM:618736"^^xsd:string) AnnotationAssertion( "BAIDCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002109"^^xsd:string) AnnotationAssertion(rdfs:label "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Laryngismus) AnnotationAssertion(Annotation( "MESH:D007826"^^xsd:string) "A disorder in which the adductor muscles of the VOCAL CORDS exhibit increased activity leading to laryngeal spasm. Laryngismus causes closure of the VOCAL FOLDS and airflow obstruction during inspiration."^^xsd:string) AnnotationAssertion( "MESH:D007826"^^xsd:string) AnnotationAssertion( "Laryngeal Spasm"^^xsd:string) AnnotationAssertion( "Laryngeal Spasms"^^xsd:string) AnnotationAssertion( "Laryngospasm"^^xsd:string) AnnotationAssertion( "Laryngospasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002110"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngismus"^^xsd:string) SubClassOf( ) # Class: (Dyssomnias) AnnotationAssertion(Annotation( "MESH:D020920"^^xsd:string) "A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)"^^xsd:string) AnnotationAssertion( "MESH:D020920"^^xsd:string) AnnotationAssertion( "Adjustment Sleep Disorder"^^xsd:string) AnnotationAssertion( "Adjustment Sleep Disorders"^^xsd:string) AnnotationAssertion( "Dyssomnia"^^xsd:string) AnnotationAssertion( "Environmental Sleep Disorder"^^xsd:string) AnnotationAssertion( "Environmental Sleep Disorders"^^xsd:string) AnnotationAssertion( "Extrinsic Sleep Disorder"^^xsd:string) AnnotationAssertion( "Extrinsic Sleep Disorders"^^xsd:string) AnnotationAssertion( "Limit Setting Sleep Disorder"^^xsd:string) AnnotationAssertion( "Limit-Setting Sleep Disorders"^^xsd:string) AnnotationAssertion( "Nocturnal Eating Drinking Syndrome"^^xsd:string) AnnotationAssertion( "Nocturnal Eating-Drinking Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002111"^^xsd:string) AnnotationAssertion(rdfs:label "Dyssomnias"^^xsd:string) SubClassOf( ) # Class: (Wiedemann-Steiner syndrome) AnnotationAssertion( "This disease is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back."^^xsd:string) AnnotationAssertion( "MESH:C565358"^^xsd:string) AnnotationAssertion( "MIM:605130"^^xsd:string) AnnotationAssertion( "Growth Deficiency and Mental Retardation with Facial Dysmorphism"^^xsd:string) AnnotationAssertion( "KMT2A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WDSTS"^^xsd:string) AnnotationAssertion( "hairy elbows, short stature, facial dysmorphism, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002112"^^xsd:string) AnnotationAssertion(rdfs:label "Wiedemann-Steiner syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive Myoclonic Epilepsy 2B) AnnotationAssertion( "MESH:C564976"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002113"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Myoclonic Epilepsy 2B"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Axonal Type 2HH) AnnotationAssertion( "An autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. Caused by heterozygous mutation in the JAG1 gene on chromosome 20p12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-27T16:51:00Z"^^xsd:string) AnnotationAssertion( "MIM:619574"^^xsd:string) AnnotationAssertion( "CMT2HH"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2HH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002114"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Axonal Type 2HH"^^xsd:string) SubClassOf( ) # Class: (Cutis Verticis Gyrata and Mental Deficiency) AnnotationAssertion( "MIM:219300"^^xsd:string) AnnotationAssertion( "MESH:C565661"^^xsd:string) AnnotationAssertion( "cutis verticis gyrata and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002115"^^xsd:string) AnnotationAssertion(rdfs:label "Cutis Verticis Gyrata and Mental Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenitally Corrected Transposition of the Great Arteries) AnnotationAssertion( "MESH:D000080041"^^xsd:string) AnnotationAssertion( "Congenitally Corrected TGA"^^xsd:string) AnnotationAssertion( "Congenitally Corrected TGAs"^^xsd:string) AnnotationAssertion( "Congenitally corrected transposition of the great vessels"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002116"^^xsd:string) AnnotationAssertion(rdfs:label "Congenitally Corrected Transposition of the Great Arteries"^^xsd:string) SubClassOf( ) # Class: (Hypoalphalipoproteinemias) AnnotationAssertion(Annotation( "MESH:D052456"^^xsd:string) "Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS."^^xsd:string) AnnotationAssertion( "DOID:9002708"^^xsd:string) AnnotationAssertion( "MIM:605201"^^xsd:string) AnnotationAssertion( "RDO:0004371"^^xsd:string) AnnotationAssertion( "MESH:D052456"^^xsd:string) AnnotationAssertion( "FHA"^^xsd:string) AnnotationAssertion( "FHD"^^xsd:string) AnnotationAssertion( "Familial Hypoalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "Familial Hypoalphalipoproteinemias"^^xsd:string) AnnotationAssertion( "HDL Cholesterol, Low Serum"^^xsd:string) AnnotationAssertion( "HDL Lipoprotein Deficiency Disease"^^xsd:string) AnnotationAssertion( "HDLC"^^xsd:string) AnnotationAssertion( "HDLD"^^xsd:string) AnnotationAssertion( "HIGH DENSITY LIPOPROTEIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "Hypo alpha Lipoproteinemia"^^xsd:string) AnnotationAssertion( "Hypoalphalipoproteinemia"^^xsd:string) AnnotationAssertion( "familial alpha lipoprotein deficiency disease"^^xsd:string) AnnotationAssertion( "hypo alpha lipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PLTP POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:9002117"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoalphalipoproteinemias"^^xsd:string) SubClassOf( ) # Class: (Lectin Complement Activation Pathway Defects) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-08T11:30:08Z"^^xsd:string) AnnotationAssertion( "MIM:PS614372"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002118"^^xsd:string) AnnotationAssertion(rdfs:label "Lectin Complement Activation Pathway Defects"^^xsd:string) SubClassOf( ) # Class: (Malignant Hypothermia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "Hypothermia due to anesthetic"^^xsd:string) AnnotationAssertion( "Malignant hypothermia due to anesthesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002119"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Hypothermia"^^xsd:string) SubClassOf( ) # Class: (Congenital Mydriasis) AnnotationAssertion( "MIM:159420"^^xsd:string) AnnotationAssertion( "HP:0007932"^^xsd:string) AnnotationAssertion( "MESH:C563221"^^xsd:string) AnnotationAssertion( "BILATERAL CONGENITAL MYDRIASIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002120"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Mydriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinocerebellar Ataxias) AnnotationAssertion(Annotation( "MESH:D020754"^^xsd:string) "A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"^^xsd:string) AnnotationAssertion( "EFO:0002624"^^xsd:string) AnnotationAssertion( "MESH:D020754"^^xsd:string) AnnotationAssertion( "cerebellar degeneration with slow eye movements"^^xsd:string) AnnotationAssertion( "dominantly inherited spinocerebellar ataxias"^^xsd:string) AnnotationAssertion( "dominantly-inherited spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophies"^^xsd:string) AnnotationAssertion( "spinocerebellar atrophy"^^xsd:string) AnnotationAssertion( "SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13"^^xsd:string) AnnotationAssertion( "SPINOCEREBELLAR ATAXIA, DOMINANT"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002121"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nanophthalmos 2) AnnotationAssertion( "MIM:609549"^^xsd:string) AnnotationAssertion( "MESH:C563700"^^xsd:string) AnnotationAssertion( "NNO2"^^xsd:string) AnnotationAssertion( "Nanophthalmia 2"^^xsd:string) AnnotationAssertion( "Nanophthalmos, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002122"^^xsd:string) AnnotationAssertion(rdfs:label "Nanophthalmos 2"^^xsd:string) SubClassOf( ) # Class: (Familial Hypobetalipoproteinemia, Apolipoprotein B) AnnotationAssertion(Annotation( "MESH:D052476"^^xsd:string) "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption."^^xsd:string) AnnotationAssertion( "EFO:1001789"^^xsd:string) AnnotationAssertion( "MESH:D052476"^^xsd:string) AnnotationAssertion( "RDO:0007592"^^xsd:string) AnnotationAssertion( "Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type"^^xsd:string) AnnotationAssertion( "Apolipoprotein B Deficiencies"^^xsd:string) AnnotationAssertion( "Apolipoprotein B Deficiency"^^xsd:string) AnnotationAssertion( "Apolipoprotein B Deficiency Disease"^^xsd:string) AnnotationAssertion( "Hypobetalipoproteinemia, Familial, Apo B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002123"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypobetalipoproteinemia, Apolipoprotein B"^^xsd:string) SubClassOf( ) # Class: (IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA) AnnotationAssertion(Annotation( "MIM:618042"^^xsd:string) "This disease is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-07-07T17:14:36Z"^^xsd:string) AnnotationAssertion( "MIM:618042"^^xsd:string) AnnotationAssertion( "IMD100"^^xsd:string) AnnotationAssertion( "OAS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PAPHG"^^xsd:string) AnnotationAssertion( "PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002124"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hip Socket Neuropathy) AnnotationAssertion( "MESH:C531783"^^xsd:string) AnnotationAssertion( "RDO:0000198"^^xsd:string) AnnotationAssertion( "Deep gluteal syndrome"^^xsd:string) AnnotationAssertion( "Pseudosciatica"^^xsd:string) AnnotationAssertion( "Wallet sciatica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002125"^^xsd:string) AnnotationAssertion(rdfs:label "Hip Socket Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Osteosclerosis with Ichthyosis and Premature Ovarian Failure) AnnotationAssertion( "MIM:609993"^^xsd:string) AnnotationAssertion( "MESH:C536064"^^xsd:string) AnnotationAssertion( "Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002126"^^xsd:string) AnnotationAssertion(rdfs:label "Osteosclerosis with Ichthyosis and Premature Ovarian Failure"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteofibrous Dysplasia) AnnotationAssertion( "DOID:9006748"^^xsd:string) AnnotationAssertion( "MESH:C563787"^^xsd:string) AnnotationAssertion( "MIM:607278"^^xsd:string) AnnotationAssertion( "MESH:C563276"^^xsd:string) AnnotationAssertion( "OFD"^^xsd:string) AnnotationAssertion( "OSFD"^^xsd:string) AnnotationAssertion( "bowing of tibia with pseudarthrosis and pectus excavatum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "osteofibrous dysplasia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9002127"^^xsd:string) AnnotationAssertion(rdfs:label "Osteofibrous Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adrenogenital Syndrome) AnnotationAssertion(Annotation( "MESH:D047808"^^xsd:string) "Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children."^^xsd:string) AnnotationAssertion( "MESH:D047808"^^xsd:string) AnnotationAssertion( "RDO:0004758"^^xsd:string) AnnotationAssertion( "Adrenogenital Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002128"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenogenital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Candidiasis, Familial, 6) AnnotationAssertion( "familial chronic mucocutaneous candidiasis, autosomal dominant"^^xsd:string) AnnotationAssertion( "MIM:613956"^^xsd:string) AnnotationAssertion( "CANDF6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002129"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 6"^^xsd:string) SubClassOf( ) # Class: (Bisphosphonate-Associated Osteonecrosis of the Jaw) AnnotationAssertion(Annotation( "MESH:D059266"^^xsd:string) "Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process."^^xsd:string) AnnotationAssertion( "MESH:D059266"^^xsd:string) AnnotationAssertion( "RDO:0010003"^^xsd:string) AnnotationAssertion( "Bisphosphonate Associated Osteonecrosis"^^xsd:string) AnnotationAssertion( "Bisphosphonate Associated Osteonecrosis of the Jaws"^^xsd:string) AnnotationAssertion( "Bisphosphonate Induced Osteonecrosis of the Jaw"^^xsd:string) AnnotationAssertion( "Bisphosphonate Induced Osteonecrosis of the Jaws"^^xsd:string) AnnotationAssertion( "Bisphosphonate Osteonecroses"^^xsd:string) AnnotationAssertion( "Bisphosphonate Osteonecrosis"^^xsd:string) AnnotationAssertion( "Bisphosphonate Related Osteonecrosis of the Jaw"^^xsd:string) AnnotationAssertion( "Bisphosphonate-Associated Osteonecroses"^^xsd:string) AnnotationAssertion( "Osteonecrosis of the Jaws, Bisphosphonate Related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002130"^^xsd:string) AnnotationAssertion(rdfs:label "Bisphosphonate-Associated Osteonecrosis of the Jaw"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Disorder of Glycosylation Type IIw) AnnotationAssertion( "An autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. Caused by a heterozygous mutation in the G6PT1 gene, which encodes glucose-6-phosphate translocase, on chromosome 11q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-16T14:59:07Z"^^xsd:string) AnnotationAssertion( "MIM:619525"^^xsd:string) AnnotationAssertion( "CDG2W"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002132"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIw"^^xsd:string) SubClassOf( ) # Class: (Singleton-Merten Syndrome 2) AnnotationAssertion( "A syndrome with variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616298"^^xsd:string) AnnotationAssertion( "SGMRT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002133"^^xsd:string) AnnotationAssertion(rdfs:label "Singleton-Merten Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Heart Murmurs) AnnotationAssertion(Annotation( "MESH:D006337"^^xsd:string) "Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc)."^^xsd:string) AnnotationAssertion( "MESH:D006337"^^xsd:string) AnnotationAssertion( "Cardiac Murmur"^^xsd:string) AnnotationAssertion( "Cardiac Murmurs"^^xsd:string) AnnotationAssertion( "Diastolic Murmur"^^xsd:string) AnnotationAssertion( "Diastolic Murmurs"^^xsd:string) AnnotationAssertion( "Heart Murmur"^^xsd:string) AnnotationAssertion( "Innocent Murmur"^^xsd:string) AnnotationAssertion( "Innocent Murmurs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002134"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Murmurs"^^xsd:string) SubClassOf( ) # Class: (Congenital Infantile Lactic Acidosis due to LAD Deficiency) AnnotationAssertion( "MIM:246900"^^xsd:string) AnnotationAssertion( "MESH:C573012"^^xsd:string) AnnotationAssertion( "DLD deficiency"^^xsd:string) AnnotationAssertion( "DLD-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "DLDD"^^xsd:string) AnnotationAssertion( "E3 Deficiency"^^xsd:string) AnnotationAssertion( "Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to"^^xsd:string) AnnotationAssertion( "dihydrolipoamide dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, type 3"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002135"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Infantile Lactic Acidosis due to LAD Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infectious Ectromelia) AnnotationAssertion(Annotation( "MESH:D004482"^^xsd:string) "A viral infection of mice, causing edema and necrosis followed by limb loss."^^xsd:string) AnnotationAssertion( "EFO:0007325"^^xsd:string) AnnotationAssertion( "MESH:D004482"^^xsd:string) AnnotationAssertion( "Mouse Pox"^^xsd:string) AnnotationAssertion( "Mousepox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002137"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Ectromelia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Cord Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the spinal cord, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "spinal cord ischemia-reperfusion injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002138"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Systemic Autoinflammatory Disease, X-Linked) AnnotationAssertion(Annotation( "MIM:301081"^^xsd:string) "Thuis disease is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Laboratory studies show hypogammaglobulinemia, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-07-29T10:27:09Z"^^xsd:string) AnnotationAssertion( "MIM:301081"^^xsd:string) AnnotationAssertion( "SAIDX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002139"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Autoinflammatory Disease, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microtia, Meatal Atresia and Conductive Deafness) AnnotationAssertion( "MIM:251800"^^xsd:string) AnnotationAssertion( "MESH:C537469"^^xsd:string) AnnotationAssertion( "Familial microtia and meatal atresia"^^xsd:string) AnnotationAssertion( "Familial microtia with meatal atresia and conductive deafness"^^xsd:string) AnnotationAssertion( "Gupta Patton syndrome"^^xsd:string) AnnotationAssertion( "Microtia meatal atresia deafness dominant"^^xsd:string) AnnotationAssertion( "Microtia with meatal atresia and conductive deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002140"^^xsd:string) AnnotationAssertion(rdfs:label "Microtia, Meatal Atresia and Conductive Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anaplasia) AnnotationAssertion(Annotation( "MESH:D000708"^^xsd:string) "Loss of structural differentiation and useful function of neoplastic cells."^^xsd:string) AnnotationAssertion( "MESH:D000708"^^xsd:string) AnnotationAssertion( "Anaplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002141"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Visceral Heterotaxy 2, Autosomal) AnnotationAssertion( "MIM:605376"^^xsd:string) AnnotationAssertion( "HTX"^^xsd:string) AnnotationAssertion( "HTX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002143"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 2, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Endoleak) AnnotationAssertion(Annotation( "MESH:D057867"^^xsd:string) "Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (BLOOD VESSEL PROSTHESIS IMPLANTATION). It is associated with pressurization, expansion, and eventual rupture of the aneurysm."^^xsd:string) AnnotationAssertion( "MESH:D057867"^^xsd:string) AnnotationAssertion( "Endoleaks"^^xsd:string) AnnotationAssertion( "Perigraft Leak"^^xsd:string) AnnotationAssertion( "Perigraft Leaks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002144"^^xsd:string) AnnotationAssertion(rdfs:label "Endoleak"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Triphalangeal Thumbs with Brachyectrodactyly) AnnotationAssertion( "MIM:190680"^^xsd:string) AnnotationAssertion( "MESH:C536564"^^xsd:string) AnnotationAssertion( "Triphalangeal Thumbs Brachyectrodactyly"^^xsd:string) AnnotationAssertion( "Triphalangeal thumb and brachy-ectrodactyly syndrome"^^xsd:string) AnnotationAssertion( "Triphalangeal thumb and brachyectrodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002145"^^xsd:string) AnnotationAssertion(rdfs:label "Triphalangeal Thumbs with Brachyectrodactyly"^^xsd:string) SubClassOf( ) # Class: (Subungual Exostoses) AnnotationAssertion( "MIM:603656"^^xsd:string) AnnotationAssertion( "MESH:C535723"^^xsd:string) AnnotationAssertion( "Dupuytren subungual exostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002146"^^xsd:string) AnnotationAssertion(rdfs:label "Subungual Exostoses"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dysmyelination with Jaundice) AnnotationAssertion( "MIM:224250"^^xsd:string) AnnotationAssertion( "MESH:C565610"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002147"^^xsd:string) AnnotationAssertion(rdfs:label "Dysmyelination with Jaundice"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aspergillus Niger Infection) AnnotationAssertion( "MESH:C535390"^^xsd:string) AnnotationAssertion( "Aspergillus niger infection, pulmonary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002148"^^xsd:string) AnnotationAssertion(rdfs:label "Aspergillus Niger Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (RNA Virus Infections) AnnotationAssertion(Annotation( "MESH:D012327"^^xsd:string) "Diseases caused by RNA VIRUSES."^^xsd:string) AnnotationAssertion( "MESH:D012327"^^xsd:string) AnnotationAssertion( "RNA Virus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002150"^^xsd:string) AnnotationAssertion(rdfs:label "RNA Virus Infections"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 74) AnnotationAssertion(Annotation( "MIM:619937"^^xsd:string) "Characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Caused by homozygous mutation in the MSH5 gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-30T16:16:58Z"^^xsd:string) AnnotationAssertion( "MIM:619937"^^xsd:string) AnnotationAssertion( "SPGF74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002151"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 74"^^xsd:string) SubClassOf( ) # Class: (IFAP Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-15T09:53:20Z"^^xsd:string) AnnotationAssertion( "GARD:2952"^^xsd:string) AnnotationAssertion( "MIM:PS308205"^^xsd:string) AnnotationAssertion( "ORDO:2273"^^xsd:string) AnnotationAssertion( "Ichthyosis Follicularis Atrichia Photophobia Syndrome"^^xsd:string) AnnotationAssertion( "ichthyosis follicularis, atrichia, and photophobia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002152"^^xsd:string) AnnotationAssertion(rdfs:label "IFAP Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Allograft Dysfunction) AnnotationAssertion( "Chronic and progressive pathophysiological changes associated with solid organ transplantation."^^xsd:string) AnnotationAssertion( "CAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002153"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Allograft Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crossed Polysyndactyly) AnnotationAssertion( "MIM:175690"^^xsd:string) AnnotationAssertion( "MESH:C566773"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002154"^^xsd:string) AnnotationAssertion(rdfs:label "Crossed Polysyndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Breakthrough Pain) AnnotationAssertion(Annotation( "MESH:D059390"^^xsd:string) "Acute pain that comes on rapidly despite the use of pain medication."^^xsd:string) AnnotationAssertion( "MESH:D059390"^^xsd:string) AnnotationAssertion( "RDO:0010016"^^xsd:string) AnnotationAssertion( "Breakthrough Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002155"^^xsd:string) AnnotationAssertion(rdfs:label "Breakthrough Pain"^^xsd:string) SubClassOf( ) # Class: (Takao VCF Syndrome) AnnotationAssertion( "MESH:C566051"^^xsd:string) AnnotationAssertion( "Conotruncal Anomaly Face Syndrome"^^xsd:string) AnnotationAssertion( "Conotruncal Anomaly Face Syndrome (CTAF)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002156"^^xsd:string) AnnotationAssertion(rdfs:label "Takao VCF Syndrome"^^xsd:string) SubClassOf( ) # Class: (Erythremia, Alpha-Globin Type) AnnotationAssertion( "MESH:C564195"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002157"^^xsd:string) AnnotationAssertion(rdfs:label "Erythremia, Alpha-Globin Type"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 11, Autosomal) AnnotationAssertion(Annotation( "MIM:619608"^^xsd:string) "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-09T14:26:18Z"^^xsd:string) AnnotationAssertion( "MIM:619608"^^xsd:string) AnnotationAssertion( "HTX11"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy 11 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002158"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 11, Autosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Liver Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the liver, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "Hepatic Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Hepatic Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Liver Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002159"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Barotrauma) AnnotationAssertion(Annotation( "MESH:D001469"^^xsd:string) "Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach."^^xsd:string) AnnotationAssertion( "MESH:D001469"^^xsd:string) AnnotationAssertion( "Barotraumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002160"^^xsd:string) AnnotationAssertion(rdfs:label "Barotrauma"^^xsd:string) SubClassOf( ) # Class: (Gender Dysphoria) AnnotationAssertion(Annotation( "MESH:D000068116"^^xsd:string) "A marked difference between the individual’s expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)"^^xsd:string) AnnotationAssertion( "MESH:D000068116"^^xsd:string) AnnotationAssertion( "RDO:0016008"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002161"^^xsd:string) AnnotationAssertion(rdfs:label "Gender Dysphoria"^^xsd:string) SubClassOf( ) # Class: (Carotid Body Tumor) AnnotationAssertion(Annotation( "MESH:D002345"^^xsd:string) "Benign paraganglioma at the bifurcation of the COMMON CAROTID ARTERIES. It can encroach on the parapharyngeal space and produce dysphagia, pain, and cranial nerve palsies."^^xsd:string) AnnotationAssertion( "EFO:1000108"^^xsd:string) AnnotationAssertion( "MESH:D002345"^^xsd:string) AnnotationAssertion( "Benign Carotid Body Paraganglioma"^^xsd:string) AnnotationAssertion( "Carotid Body Paraganglioma"^^xsd:string) AnnotationAssertion( "carotid body paragangliomas"^^xsd:string) AnnotationAssertion( "carotid body tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "carotid body paraganglioma, somatic"^^xsd:string) AnnotationAssertion( "DOID:9002162"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Body Tumor"^^xsd:string) SubClassOf( ) # Class: (Silver-Russell Syndrome 3) AnnotationAssertion( "MIM:616489"^^xsd:string) AnnotationAssertion( "GRDF"^^xsd:string) AnnotationAssertion( "IGF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SRS3"^^xsd:string) AnnotationAssertion( "severe growth restriction with distinctive facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002163"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell Syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Diabetic Nephropathies) AnnotationAssertion(Annotation( "MESH:D003928"^^xsd:string) "KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE."^^xsd:string) AnnotationAssertion( "EFO:0000401"^^xsd:string) AnnotationAssertion( "EFO:0004996"^^xsd:string) AnnotationAssertion( "EFO:0004997"^^xsd:string) AnnotationAssertion( "MESH:D003928"^^xsd:string) AnnotationAssertion( "NCI:C84417"^^xsd:string) AnnotationAssertion( "Diabetic Kidney Disease"^^xsd:string) AnnotationAssertion( "Diabetic Kidney Diseases"^^xsd:string) AnnotationAssertion( "Diabetic Nephropathy"^^xsd:string) AnnotationAssertion( "Intracapillary Glomerulosclerosis"^^xsd:string) AnnotationAssertion( "Kimmelstiel Wilson disease"^^xsd:string) AnnotationAssertion( "Kimmelstiel Wilson syndrome"^^xsd:string) AnnotationAssertion( "diabetic glomerulosclerosis"^^xsd:string) AnnotationAssertion( "nodular glomerulosclerosis"^^xsd:string) AnnotationAssertion( "type 1 diabetes nephropathy"^^xsd:string) AnnotationAssertion( "type 2 diabetes nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "diabetic nephropathy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9002165"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Nephropathies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudoangiomatous Stromal Hyperplasia) AnnotationAssertion( "MESH:C535824"^^xsd:string) AnnotationAssertion( "RDO:0001142"^^xsd:string) AnnotationAssertion( "Mammary pseudoangiomatous stromal hyperplasia"^^xsd:string) AnnotationAssertion( "Pseudoangiomatous stromal hyperplasia of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002166"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoangiomatous Stromal Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Conducted Energy Weapon Injuries) AnnotationAssertion(Annotation( "MESH:D057667"^^xsd:string) "The injuries caused by conducted energy weapons such as stun guns, shock batons, and cattle prods."^^xsd:string) AnnotationAssertion( "MESH:D057667"^^xsd:string) AnnotationAssertion( "RDO:0007789"^^xsd:string) AnnotationAssertion( "Stun Gun Injuries"^^xsd:string) AnnotationAssertion( "Stun Gun Injury"^^xsd:string) AnnotationAssertion( "TASER Injuries"^^xsd:string) AnnotationAssertion( "TASER Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002168"^^xsd:string) AnnotationAssertion(rdfs:label "Conducted Energy Weapon Injuries"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Experimental Neoplasms) AnnotationAssertion(Annotation( "MESH:D009374"^^xsd:string) "Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms."^^xsd:string) AnnotationAssertion( "MESH:D009374"^^xsd:string) AnnotationAssertion( "Experimental Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002170"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diencephalic-Mesencephalic Junction Dysplasia Syndromes) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T11:49:24Z"^^xsd:string) AnnotationAssertion( "MIM:PS251280"^^xsd:string) AnnotationAssertion( "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA"^^xsd:string) AnnotationAssertion( "diencephalic-mesencephalic junction dysplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002171"^^xsd:string) AnnotationAssertion(rdfs:label "Diencephalic-Mesencephalic Junction Dysplasia Syndromes"^^xsd:string) SubClassOf( ) # Class: (Sacral Meningocele Conotruncal Heart Defects) AnnotationAssertion( "MESH:C537223"^^xsd:string) AnnotationAssertion( "Kousseff syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002172"^^xsd:string) AnnotationAssertion(rdfs:label "Sacral Meningocele Conotruncal Heart Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 23) AnnotationAssertion(Annotation( "MIM:620639"^^xsd:string) "This disease is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-09T10:09:35Z"^^xsd:string) AnnotationAssertion( "MIM:620639"^^xsd:string) AnnotationAssertion( "OI23"^^xsd:string) AnnotationAssertion( "OSTEOGENESIS IMPERFECTA, TYPE XXIII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002173"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 23"^^xsd:string) SubClassOf( ) # Class: (Disease Susceptibility) AnnotationAssertion(Annotation( "MESH:D004198"^^xsd:string) "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases."^^xsd:string) AnnotationAssertion( "MESH:D004198"^^xsd:string) AnnotationAssertion( "Diatheses"^^xsd:string) AnnotationAssertion( "Diathesis"^^xsd:string) AnnotationAssertion( "Disease Susceptibilities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002174"^^xsd:string) AnnotationAssertion(rdfs:label "Disease Susceptibility"^^xsd:string) SubClassOf( ) # Class: (Deafness with Anhidrotic Ectodermal Dysplasia) AnnotationAssertion( "MIM:125050"^^xsd:string) AnnotationAssertion( "MESH:C565119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002175"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness with Anhidrotic Ectodermal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paroxysmal Hemicrania) AnnotationAssertion(Annotation( "MESH:D051302"^^xsd:string) "A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)."^^xsd:string) AnnotationAssertion( "EFO:1001822"^^xsd:string) AnnotationAssertion( "MESH:D051302"^^xsd:string) AnnotationAssertion( "RDO:0007580"^^xsd:string) AnnotationAssertion( "Chronic Paroxysmal Hemicrania"^^xsd:string) AnnotationAssertion( "Chronic Paroxysmal Hemicranias"^^xsd:string) AnnotationAssertion( "Episodic Paroxysmal Hemicrania"^^xsd:string) AnnotationAssertion( "Episodic Paroxysmal Hemicranias"^^xsd:string) AnnotationAssertion( "Paroxysmal Hemicranias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002176"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Hemicrania"^^xsd:string) SubClassOf( ) # Class: (Walbaum Titran Durieux Crepin Syndrome) AnnotationAssertion( "MESH:C536566"^^xsd:string) AnnotationAssertion( "RDO:0002185"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002177"^^xsd:string) AnnotationAssertion(rdfs:label "Walbaum Titran Durieux Crepin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Reticuloendotheliosis, X-Linked) AnnotationAssertion( "MIM:312500"^^xsd:string) AnnotationAssertion( "MESH:C538362"^^xsd:string) AnnotationAssertion( "RDO:0004334"^^xsd:string) AnnotationAssertion( "Reticuloendotheliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002178"^^xsd:string) AnnotationAssertion(rdfs:label "Reticuloendotheliosis, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glomerular Hyperfiltration) AnnotationAssertion( "An increase in the glomerular filtration rate (GFR) that is associated with type 1 diabetes mellitus, pregnancy, kidney diseases, blood disorders, obesity, and others."^^xsd:string) AnnotationAssertion( "RDO:9000067"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002179"^^xsd:string) AnnotationAssertion(rdfs:label "Glomerular Hyperfiltration"^^xsd:string) SubClassOf( ) # Class: (Familial Hyperchylomicronemia Syndrome) AnnotationAssertion( "MESH:C538489"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002180"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperchylomicronemia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cafe au lait Spots, Multiple) AnnotationAssertion( "MIM:114030"^^xsd:string) AnnotationAssertion( "MESH:C537421"^^xsd:string) AnnotationAssertion( "RDO:0003264"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002182"^^xsd:string) AnnotationAssertion(rdfs:label "Cafe au lait Spots, Multiple"^^xsd:string) SubClassOf( ) # Class: (Heterotopic Pregnancy) AnnotationAssertion(Annotation( "MESH:D063192"^^xsd:string) "MULTIPLE PREGNANCY with EMBRYO IMPLANTATION occuring at different locations, involving both an intrauterine site and an extrauterine (ECTOPIC PREGNANCY) site."^^xsd:string) AnnotationAssertion( "MESH:D063192"^^xsd:string) AnnotationAssertion( "Heterotopic Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002183"^^xsd:string) AnnotationAssertion(rdfs:label "Heterotopic Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Megalencephaly with Dysmyelination) AnnotationAssertion( "MIM:249240"^^xsd:string) AnnotationAssertion( "MESH:C565408"^^xsd:string) AnnotationAssertion( "Megalencephaly with Diffuse White Matter Hypodensity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002184"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly with Dysmyelination"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sclerosing Bone Dysplasia, Mental Retardation) AnnotationAssertion( "MESH:C537523"^^xsd:string) AnnotationAssertion( "mixed sclerosing bone dysplasia and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002185"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerosing Bone Dysplasia, Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2) AnnotationAssertion( "An overgrowth syndrome comprising megalencephaly, hydrocephalus, polymicrogyria, and sometimes polydactyly. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001230"^^xsd:string) AnnotationAssertion( "MIM:615937"^^xsd:string) AnnotationAssertion( "MPPH2"^^xsd:string) AnnotationAssertion( "megalancephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002186"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypoinsulinemia) AnnotationAssertion( "A decreased concentration of insulin in the blood."^^xsd:string) AnnotationAssertion( "RDO:9000335"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002188"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoinsulinemia"^^xsd:string) SubClassOf( ) # Class: (High Myopia) AnnotationAssertion( "This is a severe form of myopia in which the eyeball stretches and becomes too long. This can lead to holes or tears in the retina and further complications."^^xsd:string) AnnotationAssertion( "severe myopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002189"^^xsd:string) AnnotationAssertion(rdfs:label "High Myopia"^^xsd:string) SubClassOf( ) # Class: (Meckel Syndrome 12) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "KIF14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616258"^^xsd:string) AnnotationAssertion( "MKS12"^^xsd:string) AnnotationAssertion( "Meckel Syndrome, Type 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002190"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel Syndrome 12"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thymic Aplasia with Fetal Death) AnnotationAssertion( "MIM:274210"^^xsd:string) AnnotationAssertion( "MESH:C564768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002191"^^xsd:string) AnnotationAssertion(rdfs:label "Thymic Aplasia with Fetal Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urticaria, Familial Localized Heat) AnnotationAssertion( "MIM:191950"^^xsd:string) AnnotationAssertion( "MESH:C566011"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002192"^^xsd:string) AnnotationAssertion(rdfs:label "Urticaria, Familial Localized Heat"^^xsd:string) SubClassOf( ) # Class: (Myopia 8) AnnotationAssertion( "MIM:609257"^^xsd:string) AnnotationAssertion( "MESH:C563760"^^xsd:string) AnnotationAssertion( "MYP8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002193"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 8"^^xsd:string) SubClassOf( ) # Class: (Nonmedullary Thyroid Carcinoma, with or without Cell Oxyphilia) AnnotationAssertion( "MIM:603386"^^xsd:string) AnnotationAssertion( "MESH:C537842"^^xsd:string) AnnotationAssertion( "RDO:0003751"^^xsd:string) AnnotationAssertion( "TCO"^^xsd:string) AnnotationAssertion( "TCO1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002194"^^xsd:string) AnnotationAssertion(rdfs:label "Nonmedullary Thyroid Carcinoma, with or without Cell Oxyphilia"^^xsd:string) SubClassOf( ) # Class: (Atrial Dilation and Standstill) AnnotationAssertion( "atrial dilated cardiomyopathy with atrial standstill"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atrial standstill"^^xsd:string) AnnotationAssertion( "DOID:9002195"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Dilation and Standstill"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Diarrhea 11) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-15T11:08:11Z"^^xsd:string) AnnotationAssertion( "MIM:618662"^^xsd:string) AnnotationAssertion( "DIAR11"^^xsd:string) AnnotationAssertion( "IDIS"^^xsd:string) AnnotationAssertion( "congenital malabsorptive diarrhea 11"^^xsd:string) AnnotationAssertion( "intractable diarrhea of infancy syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002198"^^xsd:string) AnnotationAssertion(rdfs:label "Diarrhea 11"^^xsd:string) SubClassOf( ) # Class: (Paragangliomas 1) AnnotationAssertion( "MIM:168000"^^xsd:string) AnnotationAssertion( "PGL1"^^xsd:string) AnnotationAssertion( "PPGL1"^^xsd:string) AnnotationAssertion( "Paragangliomas, Familial Nonchromaffin, 1"^^xsd:string) AnnotationAssertion( "familial paragangliomas, 1"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002199"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 1"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A9) AnnotationAssertion( "A disease characterized by one or more posterior or postaxial digits. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T16:57:23Z"^^xsd:string) AnnotationAssertion( "EFO:0010250"^^xsd:string) AnnotationAssertion( "MIM:618219"^^xsd:string) AnnotationAssertion( "MONDO:0032603"^^xsd:string) AnnotationAssertion( "PAPA9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002200"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A9"^^xsd:string) SubClassOf( ) # Class: (Maxillary Neoplasms) AnnotationAssertion( "Cancer or tumors of the MAXILLA or upper jaw."^^xsd:string) AnnotationAssertion( "EFO:0007360"^^xsd:string) AnnotationAssertion( "MESH:D008441"^^xsd:string) AnnotationAssertion( "maxillary neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002201"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillary Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Opsismodysplasia) AnnotationAssertion( "Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges."^^xsd:string) AnnotationAssertion( "MIM:258480"^^xsd:string) AnnotationAssertion( "MESH:C537122"^^xsd:string) AnnotationAssertion( "OPSMD"^^xsd:string) AnnotationAssertion( "DELAYED SKELETAL MATURATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002202"^^xsd:string) AnnotationAssertion(rdfs:label "Opsismodysplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudorabies) AnnotationAssertion(Annotation( "MESH:D011557"^^xsd:string) "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals."^^xsd:string) AnnotationAssertion( "EFO:0007457"^^xsd:string) AnnotationAssertion( "MESH:D011557"^^xsd:string) AnnotationAssertion( "Aujeszky Disease"^^xsd:string) AnnotationAssertion( "Aujeszky's Disease"^^xsd:string) AnnotationAssertion( "Aujeszkys Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002204"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudorabies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 2) AnnotationAssertion( "MIM:608097"^^xsd:string) AnnotationAssertion( "RDO:0013309"^^xsd:string) AnnotationAssertion( "MESH:C564292"^^xsd:string) AnnotationAssertion( "ARPHM"^^xsd:string) AnnotationAssertion( "PVNH2"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopia with Microcephaly, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Periventricular heterotopia with microcephaly"^^xsd:string) AnnotationAssertion( "Periventricular heterotopia, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002205"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 2"^^xsd:string) SubClassOf( ) # Class: (Double Nail for Fifth Toe) AnnotationAssertion( "MIM:126500"^^xsd:string) AnnotationAssertion( "EFO:0007879"^^xsd:string) AnnotationAssertion( "MESH:C565090"^^xsd:string) AnnotationAssertion( "petaloid toenail"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002206"^^xsd:string) AnnotationAssertion(rdfs:label "Double Nail for Fifth Toe"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Renal Aminoacidurias) AnnotationAssertion(Annotation( "MESH:D000608"^^xsd:string) "A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved."^^xsd:string) AnnotationAssertion( "EFO:1001149"^^xsd:string) AnnotationAssertion( "MESH:D000608"^^xsd:string) AnnotationAssertion( "AMINOACIDURIA"^^xsd:string) AnnotationAssertion( "Renal Aminoaciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002207"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Aminoacidurias"^^xsd:string) SubClassOf( ) # Class: (Familial Hyperbeta- and Prebetalipoproteinemia) AnnotationAssertion( "MESH:C566262"^^xsd:string) AnnotationAssertion( "RDO:0014664"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002208"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperbeta- and Prebetalipoproteinemia"^^xsd:string) SubClassOf( ) # Class: (Skull Fractures) AnnotationAssertion(Annotation( "MESH:D012887"^^xsd:string) "Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)."^^xsd:string) AnnotationAssertion( "EFO:1001425"^^xsd:string) AnnotationAssertion( "MESH:D012887"^^xsd:string) AnnotationAssertion( "Linear Skull Fracture"^^xsd:string) AnnotationAssertion( "Linear Skull Fractures"^^xsd:string) AnnotationAssertion( "Non Depressed Skull Fracture"^^xsd:string) AnnotationAssertion( "Non-Depressed Skull Fractures"^^xsd:string) AnnotationAssertion( "Skull Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002209"^^xsd:string) AnnotationAssertion(rdfs:label "Skull Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Granulosa Cell Tumor of the Ovary) AnnotationAssertion( "EFO:0006461"^^xsd:string) AnnotationAssertion( "MESH:C537296"^^xsd:string) AnnotationAssertion( "ORDO:99915"^^xsd:string) AnnotationAssertion( "GCT of the ovary"^^xsd:string) AnnotationAssertion( "Granulosa theca cell tumor"^^xsd:string) AnnotationAssertion( "adult granulosa cell tumor of the ovary"^^xsd:string) AnnotationAssertion( "granulosa theca cell tumor of the ovary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002210"^^xsd:string) AnnotationAssertion(rdfs:label "Granulosa Cell Tumor of the Ovary"^^xsd:string) SubClassOf( ) # Class: (Hyperalgesia) AnnotationAssertion(Annotation( "MESH:D006930"^^xsd:string) "An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve."^^xsd:string) AnnotationAssertion( "MESH:D006930"^^xsd:string) AnnotationAssertion( "Allodynia"^^xsd:string) AnnotationAssertion( "Allodynias, Tactile"^^xsd:string) AnnotationAssertion( "Allodynias, Thermal"^^xsd:string) AnnotationAssertion( "Hyperalgesia, Primary"^^xsd:string) AnnotationAssertion( "Hyperalgesia, Secondary"^^xsd:string) AnnotationAssertion( "Hyperalgesias"^^xsd:string) AnnotationAssertion( "Hyperalgesias, Mechanical"^^xsd:string) AnnotationAssertion( "Hyperalgesias, Primary"^^xsd:string) AnnotationAssertion( "Hyperalgesias, Secondary"^^xsd:string) AnnotationAssertion( "Hyperalgesias, Tactile"^^xsd:string) AnnotationAssertion( "Hyperalgesias, Thermal"^^xsd:string) AnnotationAssertion( "Hyperalgesic Sensations"^^xsd:string) AnnotationAssertion( "Mechanical Allodynia"^^xsd:string) AnnotationAssertion( "Mechanical Allodynias"^^xsd:string) AnnotationAssertion( "Mechanical Hyperalgesia"^^xsd:string) AnnotationAssertion( "Tactile Allodynia"^^xsd:string) AnnotationAssertion( "Tactile Hyperalgesia"^^xsd:string) AnnotationAssertion( "Thermal Allodynia"^^xsd:string) AnnotationAssertion( "Thermal Hyperalgesia"^^xsd:string) AnnotationAssertion( "pain hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002211"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperalgesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (PICA Syndrome) AnnotationAssertion( "MESH:C538664"^^xsd:string) AnnotationAssertion( "vertebral artery syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002212"^^xsd:string) AnnotationAssertion(rdfs:label "PICA Syndrome"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Abnormalities) AnnotationAssertion(Annotation( "MESH:D044148"^^xsd:string) "Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels."^^xsd:string) AnnotationAssertion( "MESH:D044148"^^xsd:string) AnnotationAssertion( "Lymphatic Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002213"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Absent Duct of Santorini) AnnotationAssertion( "MESH:C535567"^^xsd:string) AnnotationAssertion( "absent accessory pancreatic duct of Santorini"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002214"^^xsd:string) AnnotationAssertion(rdfs:label "Absent Duct of Santorini"^^xsd:string) SubClassOf( ) # Class: (Baetz-Greenwalt Syndrome) AnnotationAssertion( "MESH:C537795"^^xsd:string) AnnotationAssertion( "Hypoplastic right-sided heart complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002215"^^xsd:string) AnnotationAssertion(rdfs:label "Baetz-Greenwalt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Central Nervous System Protozoal Infections) AnnotationAssertion(Annotation( "MESH:D020808"^^xsd:string) "Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts."^^xsd:string) AnnotationAssertion( "MESH:D020808"^^xsd:string) AnnotationAssertion( "RDO:0000264"^^xsd:string) AnnotationAssertion( "Amebic Meningoencephalitides"^^xsd:string) AnnotationAssertion( "Amebic Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Cerebral Protozoal Infection"^^xsd:string) AnnotationAssertion( "Cerebral Protozoal Infections"^^xsd:string) AnnotationAssertion( "Infection, Central Nervous System, Protozoal"^^xsd:string) AnnotationAssertion( "Protozoal Meningoencephalitides"^^xsd:string) AnnotationAssertion( "Protozoal Meningoencephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002216"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Protozoal Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dermal Ridges, Nelson Syndrome) AnnotationAssertion( "MIM:125530"^^xsd:string) AnnotationAssertion( "MESH:C565110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002217"^^xsd:string) AnnotationAssertion(rdfs:label "Dermal Ridges, Nelson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Choroid Plexus Calcification with Mental Retardation) AnnotationAssertion( "MIM:215480"^^xsd:string) AnnotationAssertion( "MESH:C535357"^^xsd:string) AnnotationAssertion( "choroid plexus calcification and mental retardation"^^xsd:string) AnnotationAssertion( "choroido-cerebral calcification syndrome with retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002219"^^xsd:string) AnnotationAssertion(rdfs:label "Choroid Plexus Calcification with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Forney Robinson Pascoe Syndrome) AnnotationAssertion( "MESH:C537269"^^xsd:string) AnnotationAssertion( "Congenital heart disease, deafness, and skeletal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002220"^^xsd:string) AnnotationAssertion(rdfs:label "Forney Robinson Pascoe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperplasia) AnnotationAssertion(Annotation( "MESH:D006965"^^xsd:string) "An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells."^^xsd:string) AnnotationAssertion( "EFO:0000536"^^xsd:string) AnnotationAssertion( "EFO:1000199"^^xsd:string) AnnotationAssertion( "EFO:1000259"^^xsd:string) AnnotationAssertion( "MESH:D006965"^^xsd:string) AnnotationAssertion( "NCI:C3113"^^xsd:string) AnnotationAssertion( "RDO:0001143"^^xsd:string) AnnotationAssertion( "Hyperplasias"^^xsd:string) AnnotationAssertion( "Columnar Cell Hyperplasia of the Breast"^^xsd:string) AnnotationAssertion( "Flat Urothelial Hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002221"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Acrodysplasia Scoliosis) AnnotationAssertion( "RDO:0004123"^^xsd:string) AnnotationAssertion( "MESH:C538180"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002222"^^xsd:string) AnnotationAssertion(rdfs:label "Acrodysplasia Scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diffuse Palmoplantar Keratoderma) AnnotationAssertion(Annotation( "MESH:D015776"^^xsd:string) "An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present."^^xsd:string) AnnotationAssertion( "MESH:D015776"^^xsd:string) AnnotationAssertion( "MONDO:0017666"^^xsd:string) AnnotationAssertion( "ORDO:307141"^^xsd:string) AnnotationAssertion( "Diffuse PPK"^^xsd:string) AnnotationAssertion( "Diffuse keratosis palmoplantaris"^^xsd:string) AnnotationAssertion( "Diffuse palmoplantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "Keratosis Palmaris et Plantaris Familiaris"^^xsd:string) AnnotationAssertion( "Thost Unna Syndrome"^^xsd:string) AnnotationAssertion( "Tylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002223"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Palmoplantar Keratoderma"^^xsd:string) SubClassOf( ) # Class: (Rotator Cuff Injuries) AnnotationAssertion(Annotation( "MESH:D000070636"^^xsd:string) "Injuries to the ROTATOR CUFF of the shoulder joint."^^xsd:string) AnnotationAssertion( "EFO:1001250"^^xsd:string) AnnotationAssertion( "MESH:D000070636"^^xsd:string) AnnotationAssertion( "Glenoid Labral Tear"^^xsd:string) AnnotationAssertion( "Glenoid Labral Tears"^^xsd:string) AnnotationAssertion( "Rotator Cuff Injury"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tear"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tears"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tendinitides"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tendinitis"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tendinoses"^^xsd:string) AnnotationAssertion( "Rotator Cuff Tendinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002224"^^xsd:string) AnnotationAssertion(rdfs:label "Rotator Cuff Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Dyserythropoietic Anemia Type IIIb) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-24T10:57:01Z"^^xsd:string) AnnotationAssertion( "MIM:619789"^^xsd:string) AnnotationAssertion( "CDA type IIIb"^^xsd:string) AnnotationAssertion( "CDAN3B"^^xsd:string) AnnotationAssertion( "congenital dyserythropoietic anemia type IIIb, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002225"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Dyserythropoietic Anemia Type IIIb"^^xsd:string) SubClassOf( ) # Class: (Localized Epidermolysis Bullosa Simplex 2C) AnnotationAssertion( "This is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T12:21:37Z"^^xsd:string) AnnotationAssertion( "MIM:619594"^^xsd:string) AnnotationAssertion( "MONDO:0030527"^^xsd:string) AnnotationAssertion( "EBS2C"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 2C, Weber-Cockayne type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 2C, localized, modifier of"^^xsd:string) AnnotationAssertion( "DOID:9002226"^^xsd:string) AnnotationAssertion(rdfs:label "Localized Epidermolysis Bullosa Simplex 2C"^^xsd:string) SubClassOf( ) # Class: (B-Cell Chronic Lymphocytic Leukemia) AnnotationAssertion(Annotation( "MESH:D015451"^^xsd:string) "A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease."^^xsd:string) AnnotationAssertion( "MIM:109543"^^xsd:string) AnnotationAssertion( "MIM:151400"^^xsd:string) AnnotationAssertion( "MIM:609630"^^xsd:string) AnnotationAssertion( "MIM:612557"^^xsd:string) AnnotationAssertion( "MIM:612558"^^xsd:string) AnnotationAssertion( "MIM:612559"^^xsd:string) AnnotationAssertion( "MESH:D015451"^^xsd:string) AnnotationAssertion( "NCI:C7540"^^xsd:string) AnnotationAssertion( "BCLL"^^xsd:string) AnnotationAssertion( "CLL Lymphoplasmacytoid Lymphoma"^^xsd:string) AnnotationAssertion( "CLL Lymphoplasmacytoid Lymphomas"^^xsd:string) AnnotationAssertion( "Chronic B-Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "Chronic Lymphoblastic Leukemia"^^xsd:string) AnnotationAssertion( "Chronic Lymphoblastic Leukemias"^^xsd:string) AnnotationAssertion( "DBM"^^xsd:string) AnnotationAssertion( "Diffuse Well Differentiated Lymphocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Disrupted In B-Cell Malignancy"^^xsd:string) AnnotationAssertion( "Lymphocytic Lymphoma"^^xsd:string) AnnotationAssertion( "Lymphocytic Lymphomas"^^xsd:string) AnnotationAssertion( "Lymphoma, Small Lymphocytic, Plasmacytoid"^^xsd:string) AnnotationAssertion( "Small Cell Lymphoma"^^xsd:string) AnnotationAssertion( "Small-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "chronic B-cell leukemia"^^xsd:string) AnnotationAssertion( "chronic B-cell leukemias"^^xsd:string) AnnotationAssertion( "chronic B-lymphocytic leukemias"^^xsd:string) AnnotationAssertion( "low-grade B-cell malignancy"^^xsd:string) AnnotationAssertion( "small lymphocytic lymphoma"^^xsd:string) AnnotationAssertion( "small lymphocytic lymphomas"^^xsd:string) AnnotationAssertion( "well-differentiated lymphocytic lymphoma"^^xsd:string) AnnotationAssertion( "well-differentiated lymphocytic lymphomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CLLS1"^^xsd:string) AnnotationAssertion( "CLLS2"^^xsd:string) AnnotationAssertion( "CLLS3"^^xsd:string) AnnotationAssertion( "CLLS4"^^xsd:string) AnnotationAssertion( "CLLS5"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukemia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukemia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukemia, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukemia, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "chronic lymphocytic leukemia, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "DOID:9002227"^^xsd:string) AnnotationAssertion(rdfs:label "B-Cell Chronic Lymphocytic Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cystic renal cell carcinoma) AnnotationAssertion(Annotation( "EFO:0006388"^^xsd:string) "This type of tumor includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-19T11:41:21Z"^^xsd:string) AnnotationAssertion( "EFO:0006388"^^xsd:string) AnnotationAssertion( "cystic renal cell carcinoma of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002228"^^xsd:string) AnnotationAssertion(rdfs:label "cystic renal cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (Oculodental Syndrome Rutherfurd Syndrome) AnnotationAssertion( "MIM:180900"^^xsd:string) AnnotationAssertion( "MESH:C537732"^^xsd:string) AnnotationAssertion( "Rutherfurd syndrome"^^xsd:string) AnnotationAssertion( "corneal dystrophy with gum hypertrophy"^^xsd:string) AnnotationAssertion( "gingival hypertrophy corneal dystrophy"^^xsd:string) AnnotationAssertion( "gingival hypertrophy with corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002229"^^xsd:string) AnnotationAssertion(rdfs:label "Oculodental Syndrome Rutherfurd Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY) AnnotationAssertion( "An autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. GRIDHH is caused by compound heterozygous mutation in the IARS gene on chromosome 9q21. (OMIM)"^^xsd:string) AnnotationAssertion( "EFO:0009155"^^xsd:string) AnnotationAssertion( "MIM:617093"^^xsd:string) AnnotationAssertion( "RDO:9001591"^^xsd:string) AnnotationAssertion( "GRIDHH"^^xsd:string) AnnotationAssertion( "IARS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002230"^^xsd:string) AnnotationAssertion(rdfs:label "GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fetal Growth Retardation) AnnotationAssertion(Annotation( "MESH:D005317"^^xsd:string) "The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE."^^xsd:string) AnnotationAssertion( "EFO:0000495"^^xsd:string) AnnotationAssertion( "MESH:D005317"^^xsd:string) AnnotationAssertion( "IUGR"^^xsd:string) AnnotationAssertion( "Intrauterine Growth Retardation"^^xsd:string) AnnotationAssertion( "intrauterine growth restriction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002231"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Growth Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Attenuated Adenomatous Polyposis Coli) AnnotationAssertion( "RDO:0015032"^^xsd:string) AnnotationAssertion( "MESH:C566778"^^xsd:string) AnnotationAssertion( "Brain Tumor-Polyposis Syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002232"^^xsd:string) AnnotationAssertion(rdfs:label "Attenuated Adenomatous Polyposis Coli"^^xsd:string) SubClassOf( ) # Class: (Al Gazali Aziz Salem Syndrome) AnnotationAssertion( "GARD:583"^^xsd:string) AnnotationAssertion( "MESH:C535613"^^xsd:string) AnnotationAssertion( "ORDO:2865"^^xsd:string) AnnotationAssertion( "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease"^^xsd:string) AnnotationAssertion( "short stature, webbed neck, heart disease"^^xsd:string) AnnotationAssertion( "short stature-webbed neck-heart disease syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002233"^^xsd:string) AnnotationAssertion(rdfs:label "Al Gazali Aziz Salem Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pituitary Neoplasms) AnnotationAssertion(Annotation( "MESH:D010911"^^xsd:string) "Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA."^^xsd:string) AnnotationAssertion( "MESH:D010911"^^xsd:string) AnnotationAssertion( "NCI:C132194"^^xsd:string) AnnotationAssertion( "Pituitary Tumor"^^xsd:string) AnnotationAssertion( "neoplasm of pituitary gland"^^xsd:string) AnnotationAssertion( "pituitary gland neoplasm"^^xsd:string) AnnotationAssertion( "pituitary neoplasm"^^xsd:string) AnnotationAssertion( "pituitary tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002234"^^xsd:string) AnnotationAssertion(rdfs:label "Pituitary Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhabdomyolysis, Cerivastatin-Induced) AnnotationAssertion( "MIM:618018"^^xsd:string) AnnotationAssertion( "MESH:C563387"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "altered drug metabolism, CYP2C8-related"^^xsd:string) AnnotationAssertion( "DOID:9002235"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabdomyolysis, Cerivastatin-Induced"^^xsd:string) SubClassOf( ) # Class: (Infection with Mycobacterium Marinum) AnnotationAssertion( "MESH:C535526"^^xsd:string) AnnotationAssertion( "RDO:0000688"^^xsd:string) AnnotationAssertion( "Fish tank granuloma"^^xsd:string) AnnotationAssertion( "Mycobacterium marinum Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002236"^^xsd:string) AnnotationAssertion(rdfs:label "Infection with Mycobacterium Marinum"^^xsd:string) SubClassOf( ) # Class: (Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type) AnnotationAssertion( "MIM:156230"^^xsd:string) AnnotationAssertion( "MESH:C563589"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002237"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spondylometaphyseal Dysplasia, X-Linked) AnnotationAssertion( "MIM:313420"^^xsd:string) AnnotationAssertion( "MESH:C563124"^^xsd:string) AnnotationAssertion( "SMDXL"^^xsd:string) AnnotationAssertion( "Spondylometaphyseal Dysplasia, Richmond Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002238"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylometaphyseal Dysplasia, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Estrogen Resistance) AnnotationAssertion( "EFO:0009042"^^xsd:string) AnnotationAssertion( "MIM:615363"^^xsd:string) AnnotationAssertion( "RDO:9000919"^^xsd:string) AnnotationAssertion( "ESTROGEN INSENSITIVITY"^^xsd:string) AnnotationAssertion( "ESTRR"^^xsd:string) AnnotationAssertion( "Estrogen resistance syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002239"^^xsd:string) AnnotationAssertion(rdfs:label "Estrogen Resistance"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Omphalocele Exstrophy Imperforate Anus) AnnotationAssertion( "MESH:C537748"^^xsd:string) AnnotationAssertion( "RDO:0003641"^^xsd:string) AnnotationAssertion( "OEIS complex"^^xsd:string) AnnotationAssertion( "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects"^^xsd:string) AnnotationAssertion( "Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002241"^^xsd:string) AnnotationAssertion(rdfs:label "Omphalocele Exstrophy Imperforate Anus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Arthrogryposis Type 11) AnnotationAssertion(Annotation( "MIM:620019"^^xsd:string) "An autosomal dominant disorder characterized mainly by camptodactyly. Caused by heterozygous mutation in the MET gene on chromosome 7q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-26T13:27:14Z"^^xsd:string) AnnotationAssertion( "MIM:620019"^^xsd:string) AnnotationAssertion( "DA11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002242"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis Type 11"^^xsd:string) SubClassOf( ) # Class: (Leg, Absence Deformity of, with Congenital Cataract) AnnotationAssertion( "MIM:246000"^^xsd:string) AnnotationAssertion( "MESH:C565442"^^xsd:string) AnnotationAssertion( "RDO:0014078"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002243"^^xsd:string) AnnotationAssertion(rdfs:label "Leg, Absence Deformity of, with Congenital Cataract"^^xsd:string) SubClassOf( ) # Class: (Feingold Trainer Syndrome) AnnotationAssertion( "MESH:C536179"^^xsd:string) AnnotationAssertion( "Unusual facies, cleft palate, short stature, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002244"^^xsd:string) AnnotationAssertion(rdfs:label "Feingold Trainer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Neoplasms) AnnotationAssertion(Annotation( "MESH:D007414"^^xsd:string) "Tumors or cancer of the INTESTINES."^^xsd:string) AnnotationAssertion( "MESH:D007414"^^xsd:string) AnnotationAssertion( "Cancer of Intestines"^^xsd:string) AnnotationAssertion( "Cancer of the Intestines"^^xsd:string) AnnotationAssertion( "Intestinal Neoplasm"^^xsd:string) AnnotationAssertion( "Intestines Neoplasm"^^xsd:string) AnnotationAssertion( "Intestines Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002245"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 17, Deletion 17q23 q24) AnnotationAssertion( "MESH:C538047"^^xsd:string) AnnotationAssertion( "RDO:0003981"^^xsd:string) AnnotationAssertion( "Deletion 17q23 q24"^^xsd:string) AnnotationAssertion( "Monosomy 17q23 q24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002246"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17, Deletion 17q23 q24"^^xsd:string) SubClassOf( ) # Class: (Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly) AnnotationAssertion( "MIM:611733"^^xsd:string) AnnotationAssertion( "MESH:C567093"^^xsd:string) AnnotationAssertion( "Dauwerse Peters Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002247"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES) AnnotationAssertion( "MIM:617175"^^xsd:string) AnnotationAssertion( "NCI:C164155"^^xsd:string) AnnotationAssertion( "RDO:9001303"^^xsd:string) AnnotationAssertion( "RDEOA"^^xsd:string) AnnotationAssertion( "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002248"^^xsd:string) AnnotationAssertion(rdfs:label "RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES"^^xsd:string) SubClassOf( ) # Class: (Coronary-Subclavian Steal Syndrome) AnnotationAssertion(Annotation( "MESH:D058686"^^xsd:string) "A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution."^^xsd:string) AnnotationAssertion( "EFO:1001297"^^xsd:string) AnnotationAssertion( "MESH:D058686"^^xsd:string) AnnotationAssertion( "RDO:0007847"^^xsd:string) AnnotationAssertion( "Syndromes, Coronary-Subclavian Steal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002249"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary-Subclavian Steal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 11p, Partial Deletion) AnnotationAssertion( "MESH:C538295"^^xsd:string) AnnotationAssertion( "RDO:0004257"^^xsd:string) AnnotationAssertion( "Deletion 11p 11p12"^^xsd:string) AnnotationAssertion( "Deletion 11p13"^^xsd:string) AnnotationAssertion( "Monosomy 11 p11 p12"^^xsd:string) AnnotationAssertion( "Partial deletion 11p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002250"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 11p, Partial Deletion"^^xsd:string) SubClassOf( ) # Class: (Prenatal Cortical Hyperostosis, Lethal) AnnotationAssertion( "MESH:C566184"^^xsd:string) AnnotationAssertion( "RDO:0014619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002251"^^xsd:string) AnnotationAssertion(rdfs:label "Prenatal Cortical Hyperostosis, Lethal"^^xsd:string) SubClassOf( ) # Class: (Scapulohumeroperoneal Myopathy) AnnotationAssertion( "An autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616852"^^xsd:string) AnnotationAssertion( "SHPM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002252"^^xsd:string) AnnotationAssertion(rdfs:label "Scapulohumeroperoneal Myopathy"^^xsd:string) SubClassOf( ) # Class: (Rambaud Galian Syndrome) AnnotationAssertion( "MESH:C535283"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002253"^^xsd:string) AnnotationAssertion(rdfs:label "Rambaud Galian Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dilatation, Pathologic) AnnotationAssertion(Annotation( "MESH:D004108"^^xsd:string) "The condition of an anatomical structure's being dilated beyond normal dimensions."^^xsd:string) AnnotationAssertion( "MESH:D004108"^^xsd:string) AnnotationAssertion( "RDO:0005369"^^xsd:string) AnnotationAssertion( "Ectasia"^^xsd:string) AnnotationAssertion( "Pathologic Dilatations"^^xsd:string) AnnotationAssertion( "Pathological Dilatation"^^xsd:string) AnnotationAssertion( "Pathological Dilatations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002254"^^xsd:string) AnnotationAssertion(rdfs:label "Dilatation, Pathologic"^^xsd:string) SubClassOf( ) # Class: (Acanthosis Nigricans Muscle Cramps Acral Enlargement) AnnotationAssertion( "MIM:200170"^^xsd:string) AnnotationAssertion( "RDO:0001402"^^xsd:string) AnnotationAssertion( "MESH:C536000"^^xsd:string) AnnotationAssertion( "Acanthosis Nigricans With Muscle Cramps And Acral Enlargement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002255"^^xsd:string) AnnotationAssertion(rdfs:label "Acanthosis Nigricans Muscle Cramps Acral Enlargement"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Furunculous Myiasis) AnnotationAssertion( "MESH:C538194"^^xsd:string) AnnotationAssertion( "Furuncular myiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002256"^^xsd:string) AnnotationAssertion(rdfs:label "Furunculous Myiasis"^^xsd:string) SubClassOf( ) # Class: (Shprintzen Omphalocele Syndrome) AnnotationAssertion( "MIM:182210"^^xsd:string) AnnotationAssertion( "MESH:C537329"^^xsd:string) AnnotationAssertion( "Laryngeal and pharyngeal hypoplasia with omphalocele"^^xsd:string) AnnotationAssertion( "OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS"^^xsd:string) AnnotationAssertion( "Pharynx and larynx hypoplasia with omphalocele"^^xsd:string) AnnotationAssertion( "Shprintzen-Goldberg omphalocele syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002257"^^xsd:string) AnnotationAssertion(rdfs:label "Shprintzen Omphalocele Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glucose-6-Phosphate Translocase Deficiency) AnnotationAssertion( "MESH:C536831"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002258"^^xsd:string) AnnotationAssertion(rdfs:label "Glucose-6-Phosphate Translocase Deficiency"^^xsd:string) SubClassOf( ) # Class: (mitral annular calcification) AnnotationAssertion(Annotation( "EFO:0005262"^^xsd:string) "This is degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-24T15:51:10Z"^^xsd:string) AnnotationAssertion( "EFO:0005262"^^xsd:string) AnnotationAssertion( "MAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002259"^^xsd:string) AnnotationAssertion(rdfs:label "mitral annular calcification"^^xsd:string) SubClassOf( ) # Class: (testicular dysgenesis syndrome) AnnotationAssertion(Annotation( "EFO:0004893"^^xsd:string) "This is a syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-16T10:10:43Z"^^xsd:string) AnnotationAssertion( "EFO:0004893"^^xsd:string) AnnotationAssertion( "TDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002260"^^xsd:string) AnnotationAssertion(rdfs:label "testicular dysgenesis syndrome"^^xsd:string) SubClassOf( ) # Class: (Permanent Neonatal Diabetes Mellitus 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-01T10:38:22Z"^^xsd:string) AnnotationAssertion( "MIM:606176"^^xsd:string) AnnotationAssertion( "PNDM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002261"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus 1"^^xsd:string) SubClassOf( ) # Class: (Orbital Neoplasms) AnnotationAssertion(Annotation( "MESH:D009918"^^xsd:string) "Neoplasms of the bony orbit and contents except the eyeball."^^xsd:string) AnnotationAssertion( "MESH:D009918"^^xsd:string) AnnotationAssertion( "Orbital Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002262"^^xsd:string) AnnotationAssertion(rdfs:label "Orbital Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cornea Plana 2) AnnotationAssertion( "MIM:217300"^^xsd:string) AnnotationAssertion( "MESH:C565677"^^xsd:string) AnnotationAssertion( "CNA2"^^xsd:string) AnnotationAssertion( "CORNEA PLANA 2, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002263"^^xsd:string) AnnotationAssertion(rdfs:label "Cornea Plana 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Zonal Occult Outer Retinopathy) AnnotationAssertion( "MESH:C538223"^^xsd:string) AnnotationAssertion( "RDO:0004172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002264"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Zonal Occult Outer Retinopathy"^^xsd:string) SubClassOf( ) # Class: (Kidney Neoplasms) AnnotationAssertion(Annotation( "MESH:D007680"^^xsd:string) "Tumors or cancers of the KIDNEY."^^xsd:string) AnnotationAssertion( "RDO:0002884"^^xsd:string) AnnotationAssertion( "EFO:0003865"^^xsd:string) AnnotationAssertion( "EFO:1000381"^^xsd:string) AnnotationAssertion( "MESH:D007680"^^xsd:string) AnnotationAssertion( "Kidney Neoplasm"^^xsd:string) AnnotationAssertion( "renal neoplasm"^^xsd:string) AnnotationAssertion( "renal neoplasms"^^xsd:string) AnnotationAssertion( "Mixed Epithelial Stromal Tumor of the Kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002265"^^xsd:string) AnnotationAssertion(rdfs:label "Kidney Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Minicore Myopathy, Antenatal Onset, with Arthrogryposis) AnnotationAssertion( "MESH:C537474"^^xsd:string) AnnotationAssertion( "RDO:0003320"^^xsd:string) AnnotationAssertion( "Multicore myopathy, antenatal onset, with arthrogryposis"^^xsd:string) AnnotationAssertion( "Multiminicore myopathy, antenatal onset, with arthrogryposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002266"^^xsd:string) AnnotationAssertion(rdfs:label "Minicore Myopathy, Antenatal Onset, with Arthrogryposis"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T17:50:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010563"^^xsd:string) AnnotationAssertion( "MIM:618577"^^xsd:string) AnnotationAssertion( "NEDBAF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002267"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hand and Foot Deformity with Flat Facies) AnnotationAssertion( "MIM:139750"^^xsd:string) AnnotationAssertion( "MESH:C535626"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002268"^^xsd:string) AnnotationAssertion(rdfs:label "Hand and Foot Deformity with Flat Facies"^^xsd:string) SubClassOf( ) # Class: (Mthfr Deficiency, Thermolabile Type) AnnotationAssertion( "MESH:C565512"^^xsd:string) AnnotationAssertion( "RDO:0014126"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002269"^^xsd:string) AnnotationAssertion(rdfs:label "Mthfr Deficiency, Thermolabile Type"^^xsd:string) SubClassOf( ) # Class: (Kocher-Debre-Semelaigne Syndrome) AnnotationAssertion( "MESH:C537211"^^xsd:string) AnnotationAssertion( "RDO:0003001"^^xsd:string) AnnotationAssertion( "Kocher Debre Semelaigne disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002270"^^xsd:string) AnnotationAssertion(rdfs:label "Kocher-Debre-Semelaigne Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dourine) AnnotationAssertion(Annotation( "MESH:D004313"^^xsd:string) "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia."^^xsd:string) AnnotationAssertion( "EFO:0007240"^^xsd:string) AnnotationAssertion( "MESH:D004313"^^xsd:string) AnnotationAssertion( "Dourines"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002271"^^xsd:string) AnnotationAssertion(rdfs:label "Dourine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Small Fiber Neuropathy) AnnotationAssertion(Annotation( "MESH:D000071075"^^xsd:string) "Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS)."^^xsd:string) AnnotationAssertion( "MESH:D000071075"^^xsd:string) AnnotationAssertion( "NCI:C125389"^^xsd:string) AnnotationAssertion( "Small Fibre Neuropathies"^^xsd:string) AnnotationAssertion( "Small Fibre Neuropathy"^^xsd:string) AnnotationAssertion( "small fiber neuropathies"^^xsd:string) AnnotationAssertion( "small nerve fiber neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002272"^^xsd:string) AnnotationAssertion(rdfs:label "Small Fiber Neuropathy"^^xsd:string) SubClassOf( ) # Class: (Open Bite) AnnotationAssertion(Annotation( "MESH:D024343"^^xsd:string) "A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed."^^xsd:string) AnnotationAssertion( "MESH:D024343"^^xsd:string) AnnotationAssertion( "Apertognathia"^^xsd:string) AnnotationAssertion( "Nonocclusion"^^xsd:string) AnnotationAssertion( "Openbite"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002273"^^xsd:string) AnnotationAssertion(rdfs:label "Open Bite"^^xsd:string) SubClassOf( ) # Class: (Renal Colic) AnnotationAssertion(Annotation( "MESH:D056844"^^xsd:string) "A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA."^^xsd:string) AnnotationAssertion( "EFO:1001412"^^xsd:string) AnnotationAssertion( "MESH:D056844"^^xsd:string) AnnotationAssertion( "Acute Renal Colic"^^xsd:string) AnnotationAssertion( "Acute Renal Colics"^^xsd:string) AnnotationAssertion( "Renal Colics"^^xsd:string) AnnotationAssertion( "Ureteral Colic"^^xsd:string) AnnotationAssertion( "Ureteral Colics"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002274"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Colic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Uridine-Cytidineuria) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:59:52Z"^^xsd:string) AnnotationAssertion( "MIM:618477"^^xsd:string) AnnotationAssertion( "MONDO:0032773"^^xsd:string) AnnotationAssertion( "URCTU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002276"^^xsd:string) AnnotationAssertion(rdfs:label "Uridine-Cytidineuria"^^xsd:string) SubClassOf( ) # Class: (Dandy-Walker Malformation with Postaxial Polydactyly) AnnotationAssertion( "MIM:220220"^^xsd:string) AnnotationAssertion( "MESH:C535771"^^xsd:string) AnnotationAssertion( "DWM with Postaxial Polydactyly"^^xsd:string) AnnotationAssertion( "Dandy Walker Malformation Postaxial Polydactyly"^^xsd:string) AnnotationAssertion( "Pierquin syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002277"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy-Walker Malformation with Postaxial Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metabolic Bone Diseases) AnnotationAssertion(Annotation( "MESH:D001851"^^xsd:string) "Diseases that affect the METABOLIC PROCESSES of BONE TISSUE."^^xsd:string) AnnotationAssertion( "RDO:0001042"^^xsd:string) AnnotationAssertion( "MESH:D001851"^^xsd:string) AnnotationAssertion( "Metabolic Bone Disease"^^xsd:string) AnnotationAssertion( "osteopenia"^^xsd:string) AnnotationAssertion( "osteopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002278"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Bone Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Permanent Neonatal Diabetes Mellitus 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-01T09:56:33Z"^^xsd:string) AnnotationAssertion( "MIM:618857"^^xsd:string) AnnotationAssertion( "PNDM3"^^xsd:string) AnnotationAssertion( "diabetes mellitus, permanent neonatal 3, with or without neurologic features"^^xsd:string) AnnotationAssertion( "DEND2"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002279"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus 3"^^xsd:string) SubClassOf( ) # Class: (Retinal Arterial Macroaneurysm) AnnotationAssertion(Annotation( "MESH:D000080346"^^xsd:string) "An acquired dilation of the retinal artery often associated with systemic HYPERTENSION."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T12:37:50Z"^^xsd:string) AnnotationAssertion( "MESH:D000080346"^^xsd:string) AnnotationAssertion( "Retinal Macroaneurysm"^^xsd:string) AnnotationAssertion( "Retinal Arteriolar Macroaneurysm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ruptured Retinal Arterial Macroaneurysm"^^xsd:string) AnnotationAssertion( "DOID:9002280"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Arterial Macroaneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Monocyte Esterase Deficiency) AnnotationAssertion( "MIM:618057"^^xsd:string) AnnotationAssertion( "MESH:C566173"^^xsd:string) AnnotationAssertion( "altered drug metabolism, CES1-related"^^xsd:string) AnnotationAssertion( "carboxylesterase 1 deficiency"^^xsd:string) AnnotationAssertion( "monocyte carboxylesterase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002282"^^xsd:string) AnnotationAssertion(rdfs:label "Monocyte Esterase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Allergic Asthma) AnnotationAssertion( "Allergic asthma that is induced in experimental animals."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002283"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Allergic Asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 16, Uniparental Disomy) AnnotationAssertion( "MESH:C538043"^^xsd:string) AnnotationAssertion( "RDO:0003977"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002284"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 16, Uniparental Disomy"^^xsd:string) SubClassOf( ) # Class: (Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus) AnnotationAssertion( "RDO:0002479"^^xsd:string) AnnotationAssertion( "MESH:C536790"^^xsd:string) AnnotationAssertion( "Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002285"^^xsd:string) AnnotationAssertion(rdfs:label "Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Respiratory Tract Granuloma) AnnotationAssertion(Annotation( "MESH:D015769"^^xsd:string) "Granulomatous disorders affecting one or more sites in the respiratory tract."^^xsd:string) AnnotationAssertion( "RDO:0005699"^^xsd:string) AnnotationAssertion( "MESH:D015769"^^xsd:string) AnnotationAssertion( "Respiratory Tract Granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002287"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Tract Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hoxha-Aliu syndrome) AnnotationAssertion(Annotation( "MIM:620662"^^xsd:string) "This disease is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-29T10:50:54Z"^^xsd:string) AnnotationAssertion( "ERI1-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:620662"^^xsd:string) AnnotationAssertion( "HXAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002288"^^xsd:string) AnnotationAssertion(rdfs:label "Hoxha-Aliu syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinitis Pigmentosa 96) AnnotationAssertion( "A disease characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Caused by heterozygous mutation in the SAG gene on chromosome 2q37."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-02T09:29:13Z"^^xsd:string) AnnotationAssertion( "MIM:620228"^^xsd:string) AnnotationAssertion( "RP96"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002289"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 96"^^xsd:string) SubClassOf( ) # Class: (Cadaver) AnnotationAssertion(Annotation( "MESH:D002102"^^xsd:string) "A dead body, usually a human body."^^xsd:string) AnnotationAssertion( "MESH:D002102"^^xsd:string) AnnotationAssertion( "Cadavers"^^xsd:string) AnnotationAssertion( "Corpse"^^xsd:string) AnnotationAssertion( "Corpses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002290"^^xsd:string) AnnotationAssertion(rdfs:label "Cadaver"^^xsd:string) SubClassOf( ) # Class: (Hereditary Angioedema 6) AnnotationAssertion( "An autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. Caused by heterozygous mutation in the KNG1 gene on chromosome 3q27. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T11:59:20Z"^^xsd:string) AnnotationAssertion( "MIM:619363"^^xsd:string) AnnotationAssertion( "HAE6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002291"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angioedema 6"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bilateral Amastia with Ureteral Triplication and Dysmorphism) AnnotationAssertion( "MIM:104350"^^xsd:string) AnnotationAssertion( "MESH:C566295"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002294"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Amastia with Ureteral Triplication and Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Poor Drug Metabolism, CYP2D6-Related) AnnotationAssertion( "MIM:608902"^^xsd:string) AnnotationAssertion( "EFO:0009161"^^xsd:string) AnnotationAssertion( "MESH:C563835"^^xsd:string) AnnotationAssertion( "CODEINE, ULTRARAPID METABOLISM OF"^^xsd:string) AnnotationAssertion( "DEBRISOQUINE, POOR METABOLISM OF"^^xsd:string) AnnotationAssertion( "DEBRISOQUINE, ULTRARAPID METABOLISM OF"^^xsd:string) AnnotationAssertion( "DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED"^^xsd:string) AnnotationAssertion( "NORTRIPTYLINE, POOR METABOLISM OF"^^xsd:string) AnnotationAssertion( "poor metabolism of sparteine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002295"^^xsd:string) AnnotationAssertion(rdfs:label "Poor Drug Metabolism, CYP2D6-Related"^^xsd:string) SubClassOf( ) # Class: (Acquired Hypoprothrombinemia) AnnotationAssertion( "MESH:C538174"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002296"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Hypoprothrombinemia"^^xsd:string) SubClassOf( ) # Class: (OCULOMOTOR-ABDUCENS SYNKINESIS) AnnotationAssertion(Annotation( "MIM:619215"^^xsd:string) "This disease is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of extraocular muscles and suggest synkinesis of the oculomotor and abducens nerves."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-13T14:14:56Z"^^xsd:string) AnnotationAssertion( "MIM:619215"^^xsd:string) AnnotationAssertion( "OCABSN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002297"^^xsd:string) AnnotationAssertion(rdfs:label "OCULOMOTOR-ABDUCENS SYNKINESIS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy) AnnotationAssertion( "MIM:605115"^^xsd:string) AnnotationAssertion( "MESH:C565359"^^xsd:string) AnnotationAssertion( "RDO:0014015"^^xsd:string) AnnotationAssertion( "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002298"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 86) AnnotationAssertion(Annotation( "MIM:620280"^^xsd:string) "A late-onset progressive hearing loss through p53 (TP53)-mediated hair cell apoptosis. Caused by heterozygous mutation in the THOC1 gene on chromosome 18p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-14T10:16:58Z"^^xsd:string) AnnotationAssertion( "MIM:620280"^^xsd:string) AnnotationAssertion( "DFNA86"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 86"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002299"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 86"^^xsd:string) SubClassOf( ) # Class: (Hypoglobulinemia and Absent B Cells) AnnotationAssertion( "MESH:C565765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002300"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoglobulinemia and Absent B Cells"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities) AnnotationAssertion(Annotation( "MIM:619173"^^xsd:string) "A disease characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Caused by heterozygous mutation in the CLCN6 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T15:22:21Z"^^xsd:string) AnnotationAssertion( "MIM:619173"^^xsd:string) AnnotationAssertion( "CLCN6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CONRIBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002301"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Generalized Severe Epidermolysis Bullosa Simplex 1A) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T11:55:03Z"^^xsd:string) AnnotationAssertion( "MIM:131760"^^xsd:string) AnnotationAssertion( "EBS1A"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 1A, Dowling-Meara type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002302"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Severe Epidermolysis Bullosa Simplex 1A"^^xsd:string) SubClassOf( ) # Class: (Polyglucosan Body Myopathy 2) AnnotationAssertion(Annotation( "MIM:616199"^^xsd:string) "This disease is is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. The disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616199"^^xsd:string) AnnotationAssertion( "PGBM2"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY TYPE 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002303"^^xsd:string) AnnotationAssertion(rdfs:label "Polyglucosan Body Myopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostatic Neoplasms) AnnotationAssertion(Annotation( "MESH:D011471"^^xsd:string) "Tumors or cancer of the PROSTATE."^^xsd:string) AnnotationAssertion( "MESH:D011471"^^xsd:string) AnnotationAssertion( "prostate neoplasm"^^xsd:string) AnnotationAssertion( "prostate neoplasms"^^xsd:string) AnnotationAssertion( "prostatic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002304"^^xsd:string) AnnotationAssertion(rdfs:label "Prostatic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (War-Related Injuries) AnnotationAssertion(Annotation( "MESH:D000067398"^^xsd:string) "WOUNDS and INJURIES and PSYCHOLOGICAL TRAUMA sustained during WAR."^^xsd:string) AnnotationAssertion( "MESH:D000067398"^^xsd:string) AnnotationAssertion( "War Related Trauma"^^xsd:string) AnnotationAssertion( "War-Related Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002305"^^xsd:string) AnnotationAssertion(rdfs:label "War-Related Injuries"^^xsd:string) SubClassOf( ) # Class: (Aggressive Periodontitis, 2) AnnotationAssertion( "MIM:608526"^^xsd:string) AnnotationAssertion( "MESH:C566946"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002306"^^xsd:string) AnnotationAssertion(rdfs:label "Aggressive Periodontitis, 2"^^xsd:string) SubClassOf( ) # Class: (Mandibulofacial Dysostosis Syndrome, Bauru Type) AnnotationAssertion( "MIM:604830"^^xsd:string) AnnotationAssertion( "MESH:C565744"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002307"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibulofacial Dysostosis Syndrome, Bauru Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nonodontogenic Cysts) AnnotationAssertion(Annotation( "MESH:D009631"^^xsd:string) "Cysts formed from epithelial inclusions in the lines of fusion of the embryonic processes which form the jaws. They include nasopalatine or incisive canal cyst, incisive papilla cyst, globulomaxillary cyst, median palatal cyst, median alveolar cyst, median mandibular cyst, and nasoalveolar cyst."^^xsd:string) AnnotationAssertion( "MESH:D009631"^^xsd:string) AnnotationAssertion( "RDO:0006223"^^xsd:string) AnnotationAssertion( "Nonodontogenic Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002309"^^xsd:string) AnnotationAssertion(rdfs:label "Nonodontogenic Cysts"^^xsd:string) SubClassOf( ) # Class: (Split-Hand/Foot Malformation with Long Bone Deficiency 3) AnnotationAssertion( "MIM:612576"^^xsd:string) AnnotationAssertion( "RDO:0015373"^^xsd:string) AnnotationAssertion( "MESH:C567245"^^xsd:string) AnnotationAssertion( "CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "SHFLD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002310"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Hand/Foot Malformation with Long Bone Deficiency 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Myocarditis) AnnotationAssertion(Annotation( "PMID:11274001"^^xsd:string) Annotation( "PMID:15546794"^^xsd:string) "Experimental autoimmune myocarditis is a model of inflammatory heart disease and subsequent dilated cardiomyopathy (DCM). Inoculation with purified cardiac myosin combined with FREUND'S ADJUVANT triggers the disease in rats and mice."^^xsd:string) AnnotationAssertion( "EAM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002311"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Myocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atrial Remodeling) AnnotationAssertion(Annotation( "MESH:D064752"^^xsd:string) "Long-term changes in the electrophysiological parameters and/or anatomical structures of the HEART ATRIA that result from prolonged changes in atrial rate, often associated with ATRIAL FIBRILLATION or long periods of intense EXERCISE."^^xsd:string) AnnotationAssertion( "MESH:D064752"^^xsd:string) AnnotationAssertion( "Atrial Cardiac Remodeling"^^xsd:string) AnnotationAssertion( "Atrial Myocardial Remodeling"^^xsd:string) AnnotationAssertion( "Atrium Remodeling"^^xsd:string) AnnotationAssertion( "Electrical Remodeling"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002312"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Remodeling"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6) AnnotationAssertion(Annotation( "MIM:620647"^^xsd:string) "A disease characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle. Caused by homozygous mutation in the RRM1 gene on chromosome 11p15."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-18T11:05:44Z"^^xsd:string) AnnotationAssertion( "MIM:620647"^^xsd:string) AnnotationAssertion( "PEOB6"^^xsd:string) AnnotationAssertion( "RRM1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002313"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6"^^xsd:string) SubClassOf( ) # Class: (Acute Traumatic Coagulopathy) AnnotationAssertion( "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism arises from physical trauma."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001269"^^xsd:string) AnnotationAssertion( "ACOTS"^^xsd:string) AnnotationAssertion( "ATC"^^xsd:string) AnnotationAssertion( "COT"^^xsd:string) AnnotationAssertion( "Coagulopathy of trauma"^^xsd:string) AnnotationAssertion( "acute coagulopathy of trauma-shock"^^xsd:string) AnnotationAssertion( "trauma-induced coagulopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002314"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Traumatic Coagulopathy"^^xsd:string) SubClassOf( ) # Class: (Kidney Calculi) AnnotationAssertion(Annotation( "MESH:D007669"^^xsd:string) "Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE."^^xsd:string) AnnotationAssertion( "MESH:D007669"^^xsd:string) AnnotationAssertion( "Kidney Stone"^^xsd:string) AnnotationAssertion( "Kidney Stones"^^xsd:string) AnnotationAssertion( "Nephrolith"^^xsd:string) AnnotationAssertion( "Renal Calculi"^^xsd:string) AnnotationAssertion( "kidney calculus"^^xsd:string) AnnotationAssertion( "renal calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002315"^^xsd:string) AnnotationAssertion(rdfs:label "Kidney Calculi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myoclonus, Cerebellar Ataxia, and Deafness) AnnotationAssertion( "MIM:159800"^^xsd:string) AnnotationAssertion( "MESH:C563549"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002316"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonus, Cerebellar Ataxia, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anthophobia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T12:44:44Z"^^xsd:string) AnnotationAssertion( "MESH:C000719190"^^xsd:string) AnnotationAssertion( "Botanophobia"^^xsd:string) AnnotationAssertion( "Fear of flowers"^^xsd:string) AnnotationAssertion( "Fear of plants"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002317"^^xsd:string) AnnotationAssertion(rdfs:label "Anthophobia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glanzmann Thrombasthenia 1) AnnotationAssertion(Annotation( "MIM:273800"^^xsd:string) "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B) on chromosome 17q21.31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-25T13:34:23Z"^^xsd:string) AnnotationAssertion( "MIM:273800"^^xsd:string) AnnotationAssertion( "BDPLT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002319"^^xsd:string) AnnotationAssertion(rdfs:label "Glanzmann Thrombasthenia 1"^^xsd:string) SubClassOf( ) # Class: (Neurobehavioral Manifestations) AnnotationAssertion(Annotation( "MESH:D019954"^^xsd:string) "Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information."^^xsd:string) AnnotationAssertion( "EFO:0004364"^^xsd:string) AnnotationAssertion( "MESH:D019954"^^xsd:string) AnnotationAssertion( "Cognitive Manifestation"^^xsd:string) AnnotationAssertion( "Cognitive Manifestations"^^xsd:string) AnnotationAssertion( "Cognitive Symptom"^^xsd:string) AnnotationAssertion( "Cognitive Symptoms"^^xsd:string) AnnotationAssertion( "Neurobehavioral Manifestation"^^xsd:string) AnnotationAssertion( "Neurobehavioral Signs and Symptoms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002320"^^xsd:string) AnnotationAssertion(rdfs:label "Neurobehavioral Manifestations"^^xsd:string) SubClassOf( ) # Class: (Teratozoospermia) AnnotationAssertion( "Presence of spermatozoa with abnormal morphology over 85 % in sperm."^^xsd:string) AnnotationAssertion( "EFO:0002625"^^xsd:string) AnnotationAssertion( "MESH:D000072660"^^xsd:string) AnnotationAssertion( "abnormal spermatozoa"^^xsd:string) AnnotationAssertion( "abnormal spermatozoas"^^xsd:string) AnnotationAssertion( "teratospermia"^^xsd:string) AnnotationAssertion( "teratospermias"^^xsd:string) AnnotationAssertion( "teratozoospermias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002321"^^xsd:string) AnnotationAssertion(rdfs:label "Teratozoospermia"^^xsd:string) SubClassOf( ) # Class: (Shy-Drager Syndrome) AnnotationAssertion(Annotation( "MESH:D012791"^^xsd:string) "A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)"^^xsd:string) AnnotationAssertion( "MESH:D012791"^^xsd:string) AnnotationAssertion( "Dysautonomic Orthostatic Hypotension"^^xsd:string) AnnotationAssertion( "Idiopathic Orthostatic Hypotension, Shy Drager Type"^^xsd:string) AnnotationAssertion( "dysautonomia-orthostatic hypotension syndrome"^^xsd:string) AnnotationAssertion( "dysautonomia-orthostatic hypotension syndromes"^^xsd:string) AnnotationAssertion( "progressive autonomic failure"^^xsd:string) AnnotationAssertion( "progressive autonomic failures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002322"^^xsd:string) AnnotationAssertion(rdfs:label "Shy-Drager Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schaap Taylor Baraitser Syndrome) AnnotationAssertion( "MESH:C536626"^^xsd:string) AnnotationAssertion( "RDO:0002262"^^xsd:string) AnnotationAssertion( "Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002323"^^xsd:string) AnnotationAssertion(rdfs:label "Schaap Taylor Baraitser Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retroperitoneal Liposarcoma) AnnotationAssertion( "MESH:C538370"^^xsd:string) AnnotationAssertion( "Giant pelvic retroperitoneal liposarcoma"^^xsd:string) AnnotationAssertion( "Pelvic retroperitoneal liposarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002324"^^xsd:string) AnnotationAssertion(rdfs:label "Retroperitoneal Liposarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Male Hypogonadism with Mental Retardation and Skeletal Anomalies) AnnotationAssertion( "MIM:307500"^^xsd:string) AnnotationAssertion( "MESH:C564406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002325"^^xsd:string) AnnotationAssertion(rdfs:label "Male Hypogonadism with Mental Retardation and Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Night Blindness Skeletal Anomalies Unusual Facies) AnnotationAssertion( "MESH:C536121"^^xsd:string) AnnotationAssertion( "RDO:0001563"^^xsd:string) AnnotationAssertion( "Hunter Thomson Reed syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002326"^^xsd:string) AnnotationAssertion(rdfs:label "Night Blindness Skeletal Anomalies Unusual Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperparathyroidism 2) AnnotationAssertion( "MIM:145001"^^xsd:string) AnnotationAssertion( "MESH:C563273"^^xsd:string) AnnotationAssertion( "Familial Cystic Parathyroid Adenomatosis"^^xsd:string) AnnotationAssertion( "Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas"^^xsd:string) AnnotationAssertion( "HRPT2"^^xsd:string) AnnotationAssertion( "HYPERPARATHYROIDISM 2 WITH JAW TUMORS"^^xsd:string) AnnotationAssertion( "Hpt-Jt"^^xsd:string) AnnotationAssertion( "Hyperparathyroidism-Jaw Tumor Syndrome"^^xsd:string) AnnotationAssertion( "HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC"^^xsd:string) AnnotationAssertion( "HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002327"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperparathyroidism 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619699"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-14T17:17:02Z"^^xsd:string) AnnotationAssertion( "MIM:619699"^^xsd:string) AnnotationAssertion( "FERBON"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002328"^^xsd:string) AnnotationAssertion(rdfs:label "FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adams-Oliver Syndrome 4) AnnotationAssertion( "MIM:615297"^^xsd:string) AnnotationAssertion( "AOS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002329"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Familial Primary Cryofibrinogenemia) AnnotationAssertion( "MIM:123540"^^xsd:string) AnnotationAssertion( "MESH:C565142"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002330"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Primary Cryofibrinogenemia"^^xsd:string) SubClassOf( ) # Class: (Knee Osteoarthritis) AnnotationAssertion(Annotation( "MESH:D020370"^^xsd:string) "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)"^^xsd:string) AnnotationAssertion( "EFO:0004616"^^xsd:string) AnnotationAssertion( "MESH:D020370"^^xsd:string) AnnotationAssertion( "osteoarthritis of knee"^^xsd:string) AnnotationAssertion( "osteoarthritis of knees"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002331"^^xsd:string) AnnotationAssertion(rdfs:label "Knee Osteoarthritis"^^xsd:string) SubClassOf( ) # Class: (Treft Sanborn Carey Syndrome) AnnotationAssertion( "MESH:C536544"^^xsd:string) AnnotationAssertion( "RDO:0002159"^^xsd:string) AnnotationAssertion( "Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002332"^^xsd:string) AnnotationAssertion(rdfs:label "Treft Sanborn Carey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Acroscyphodysplasia) AnnotationAssertion( "MIM:250215"^^xsd:string) AnnotationAssertion( "MESH:C537350"^^xsd:string) AnnotationAssertion( "cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly"^^xsd:string) AnnotationAssertion( "wedge-shaped epiphyses of knees"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002333"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Acroscyphodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bassoe Syndrome) AnnotationAssertion( "MESH:C537661"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002334"^^xsd:string) AnnotationAssertion(rdfs:label "Bassoe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lymphangiectasis) AnnotationAssertion(Annotation( "MESH:D008200"^^xsd:string) "A transient dilatation of the lymphatic vessels."^^xsd:string) AnnotationAssertion( "EFO:1001025"^^xsd:string) AnnotationAssertion( "MESH:D008200"^^xsd:string) AnnotationAssertion( "RDO:0003619"^^xsd:string) AnnotationAssertion( "Lymphangiectases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002335"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphangiectasis"^^xsd:string) SubClassOf( ) # Class: (Renal, Genital, and Middle Ear Anomalies) AnnotationAssertion( "MIM:267400"^^xsd:string) AnnotationAssertion( "MESH:C564849"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002336"^^xsd:string) AnnotationAssertion(rdfs:label "Renal, Genital, and Middle Ear Anomalies"^^xsd:string) SubClassOf( ) # Class: (Aortic Aneurysm, Familial Abdominal 4) AnnotationAssertion( "MIM:614375"^^xsd:string) AnnotationAssertion( "AAA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002337"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Aneurysm, Familial Abdominal 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NADH Cytochrome B5 Reductase Deficiency) AnnotationAssertion( "MIM:250800"^^xsd:string) AnnotationAssertion( "OMIA:002131"^^xsd:string) AnnotationAssertion( "RDO:0003749"^^xsd:string) AnnotationAssertion( "MESH:C537841"^^xsd:string) AnnotationAssertion( "CYB5R3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HEREDITARY METHEMOGLOBINEMIA"^^xsd:string) AnnotationAssertion( "Methemoglobinemia due to deficiency of methemoglobin reductase"^^xsd:string) AnnotationAssertion( "Methemoglobinemia, Congenital, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "NADH diaphorase deficiency"^^xsd:string) AnnotationAssertion( "NADH methemoglobin reductase deficiency"^^xsd:string) AnnotationAssertion( "NADH-dependent methemoglobin reductase deficiency"^^xsd:string) AnnotationAssertion( "diaphorase deficiency"^^xsd:string) AnnotationAssertion( "methemoglobinaemia, CYB5R3-related"^^xsd:string) AnnotationAssertion( "methemoglobinemia, type I"^^xsd:string) AnnotationAssertion( "METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I"^^xsd:string) AnnotationAssertion( "METHEMOGLOBINEMIA, TYPE II"^^xsd:string) AnnotationAssertion( "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I"^^xsd:string) AnnotationAssertion( "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002339"^^xsd:string) AnnotationAssertion(rdfs:label "NADH Cytochrome B5 Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia 32) AnnotationAssertion( "MIM:613909"^^xsd:string) AnnotationAssertion( "SCA32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002340"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 32"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Multiple Exostoses with Spastic Tetraparesis) AnnotationAssertion( "MIM:158345"^^xsd:string) AnnotationAssertion( "MESH:C563566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002342"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Exostoses with Spastic Tetraparesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Corneal Cerebellar Syndrome) AnnotationAssertion( "MIM:271310"^^xsd:string) AnnotationAssertion( "MESH:C535472"^^xsd:string) AnnotationAssertion( "Corneal dystrophy with spinocerebellar degeneration"^^xsd:string) AnnotationAssertion( "Der kaloustian Jarudi Khoury syndrome"^^xsd:string) AnnotationAssertion( "Spinocerebellar degeneration and corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002343"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Cerebellar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gunshot Wounds) AnnotationAssertion(Annotation( "MESH:D014948"^^xsd:string) "Disruption of structural continuity of the body as a result of the discharge of firearms."^^xsd:string) AnnotationAssertion( "MESH:D014948"^^xsd:string) AnnotationAssertion( "Gunshot Wound"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002344"^^xsd:string) AnnotationAssertion(rdfs:label "Gunshot Wounds"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pharyngeal Neoplasms) AnnotationAssertion(Annotation( "MESH:D010610"^^xsd:string) "Tumors or cancer of the PHARYNX."^^xsd:string) AnnotationAssertion( "MESH:D010610"^^xsd:string) AnnotationAssertion( "pharyngeal neoplasm"^^xsd:string) AnnotationAssertion( "pharynx neoplasm"^^xsd:string) AnnotationAssertion( "pharynx neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002346"^^xsd:string) AnnotationAssertion(rdfs:label "Pharyngeal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MASP2 Deficiency) AnnotationAssertion( "MIM:613791"^^xsd:string) AnnotationAssertion( "MESH:C565360"^^xsd:string) AnnotationAssertion( "LCAPD2"^^xsd:string) AnnotationAssertion( "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002347"^^xsd:string) AnnotationAssertion(rdfs:label "MASP2 Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Charcot-Marie-Tooth Disease Type 1J) AnnotationAssertion(Annotation( "MIM:620111"^^xsd:string) "An autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. Caused by heterozygous mutation in the ITPR3 gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-04T16:19:40Z"^^xsd:string) AnnotationAssertion( "MIM:620111"^^xsd:string) AnnotationAssertion( "CMT1J"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, demyelinating, type 1J"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy, demyelinating, type 1J"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002349"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 1J"^^xsd:string) SubClassOf( ) # Class: (Hereditary Hemorrhagic Telangiectasia, Type 1) AnnotationAssertion( "Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:187300"^^xsd:string) AnnotationAssertion( "ENG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HHT1"^^xsd:string) AnnotationAssertion( "Haemorrhagic Telangiectasia 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002350"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hemorrhagic Telangiectasia, Type 1"^^xsd:string) SubClassOf( ) # Class: (Lipomyelomeningocele) AnnotationAssertion( "MIM:609537"^^xsd:string) AnnotationAssertion( "MESH:C537030"^^xsd:string) AnnotationAssertion( "Familial lipomyelomeningocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002351"^^xsd:string) AnnotationAssertion(rdfs:label "Lipomyelomeningocele"^^xsd:string) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 6) AnnotationAssertion( "MIM:613270"^^xsd:string) AnnotationAssertion( "MESH:C567675"^^xsd:string) AnnotationAssertion( "MONDO:0013206"^^xsd:string) AnnotationAssertion( "FECD6"^^xsd:string) AnnotationAssertion( "corneal dystrophy, Fuchs endothelial, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002352"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 6"^^xsd:string) SubClassOf( ) # Class: (Erythrocyte Lactate Transporter Defect) AnnotationAssertion( "MIM:245340"^^xsd:string) AnnotationAssertion( "MESH:C565449"^^xsd:string) AnnotationAssertion( "RDO:0014082"^^xsd:string) AnnotationAssertion( "Lactate Transporter Defect, Myopathy due to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002353"^^xsd:string) AnnotationAssertion(rdfs:label "Erythrocyte Lactate Transporter Defect"^^xsd:string) SubClassOf( ) # Class: (Pityriasis Lichenoides) AnnotationAssertion(Annotation( "MESH:D017514"^^xsd:string) "A subgroup of PARAPSORIASIS itself divided into acute and chronic forms. The acute form is characterized by the abrupt onset of a generalized, reddish-brown, maculopapular eruption. Lesions may be vesicular, hemorrhagic, crusted, or necrotic. Histologically the disease is characterized by epidermal necrolysis. The chronic form shows milder skin changes with necrosis."^^xsd:string) AnnotationAssertion( "RDO:0002849"^^xsd:string) AnnotationAssertion( "MESH:D017514"^^xsd:string) AnnotationAssertion( "Acute Pityriasis Lichenoides"^^xsd:string) AnnotationAssertion( "Chronic Pityriasis Lichenoides"^^xsd:string) AnnotationAssertion( "Habermann Disease"^^xsd:string) AnnotationAssertion( "Habermann's Disease"^^xsd:string) AnnotationAssertion( "Habermanns Disease"^^xsd:string) AnnotationAssertion( "Mucha Habermann Disease"^^xsd:string) AnnotationAssertion( "Pityriasis Lichenoides Chronica"^^xsd:string) AnnotationAssertion( "Pityriasis Lichenoides et Varioliformis Acuta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002354"^^xsd:string) AnnotationAssertion(rdfs:label "Pityriasis Lichenoides"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fetal Trimethadione Syndrome) AnnotationAssertion( "MESH:C537798"^^xsd:string) AnnotationAssertion( "RDO:0003702"^^xsd:string) AnnotationAssertion( "Trimethadione embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002355"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Trimethadione Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614731"^^xsd:string) AnnotationAssertion( "HPC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002356"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 2"^^xsd:string) SubClassOf( ) # Class: (Transient Antero-Apical Dyskinesia) AnnotationAssertion( "MESH:C538679"^^xsd:string) AnnotationAssertion( "RDO:0004599"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002357"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Antero-Apical Dyskinesia"^^xsd:string) SubClassOf( ) # Class: (Chromosome 12, 12p Trisomy) AnnotationAssertion( "MESH:C538299"^^xsd:string) AnnotationAssertion( "Duplication 12p"^^xsd:string) AnnotationAssertion( "Trisomy 12p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002358"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 12, 12p Trisomy"^^xsd:string) SubClassOf( ) # Class: (Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration) AnnotationAssertion( "MIM:225755"^^xsd:string) AnnotationAssertion( "MESH:C565594"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002359"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cone Rod Dystrophy Amelogenesis Imperfecta) AnnotationAssertion( "MESH:C535976"^^xsd:string) AnnotationAssertion( "RDO:0001369"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002360"^^xsd:string) AnnotationAssertion(rdfs:label "Cone Rod Dystrophy Amelogenesis Imperfecta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bazex-Dupre-Christol Syndrome) AnnotationAssertion( "MIM:301845"^^xsd:string) AnnotationAssertion( "MESH:C537663"^^xsd:string) AnnotationAssertion( "BDCS"^^xsd:string) AnnotationAssertion( "BZX"^^xsd:string) AnnotationAssertion( "Bazex syndrome"^^xsd:string) AnnotationAssertion( "Follicular atrophoderma and basal cell carcinomas"^^xsd:string) AnnotationAssertion( "Follicular atrophoderma-basal cell carcinoma syndrome"^^xsd:string) AnnotationAssertion( "Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002361"^^xsd:string) AnnotationAssertion(rdfs:label "Bazex-Dupre-Christol Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperkinesis) AnnotationAssertion(Annotation( "MESH:D006948"^^xsd:string) "Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders."^^xsd:string) AnnotationAssertion( "MESH:D006948"^^xsd:string) AnnotationAssertion( "Generalized Hyperkinesia"^^xsd:string) AnnotationAssertion( "Generalized Hyperkinesias"^^xsd:string) AnnotationAssertion( "Hyperkinesia"^^xsd:string) AnnotationAssertion( "Hyperkinetic Movement"^^xsd:string) AnnotationAssertion( "Hyperkinetic Movements"^^xsd:string) AnnotationAssertion( "Motor Hyperactivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002362"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkinesis"^^xsd:string) SubClassOf( ) # Class: (Nonphotosensitive Trichothiodystrophy 8) AnnotationAssertion(Annotation( "MIM:619691"^^xsd:string) "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by compound heterozygous mutation in the AARS1 gene on chromosome 16q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-06T14:37:44Z"^^xsd:string) AnnotationAssertion( "MIM:619691"^^xsd:string) AnnotationAssertion( "TTD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002363"^^xsd:string) AnnotationAssertion(rdfs:label "Nonphotosensitive Trichothiodystrophy 8"^^xsd:string) SubClassOf( ) # Class: (Stoll Levy Francfort Syndrome) AnnotationAssertion( "MIM:171480"^^xsd:string) AnnotationAssertion( "MESH:C537498"^^xsd:string) AnnotationAssertion( "Facioauriculoradial dysplasia"^^xsd:string) AnnotationAssertion( "Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002364"^^xsd:string) AnnotationAssertion(rdfs:label "Stoll Levy Francfort Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ovarian Granulosa Cell Tumor) AnnotationAssertion(Annotation( "EFO:1000421"^^xsd:string) "This is a granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-01T14:41:25Z"^^xsd:string) AnnotationAssertion( "EFO:1000421"^^xsd:string) AnnotationAssertion( "NCI:C6261"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002365"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Granulosa Cell Tumor"^^xsd:string) SubClassOf( ) # Class: (Protozoan Encephalitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002366"^^xsd:string) AnnotationAssertion(rdfs:label "Protozoan Encephalitis"^^xsd:string) SubClassOf( ) # Class: (Diamond-Blackfan Anemia 21) AnnotationAssertion(Annotation( "MIM:620072"^^xsd:string) "An autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability. Caused by homozygous or compound heterozygous mutations in the HEATR3 gene on chromosome 16q12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-13T10:02:05Z"^^xsd:string) AnnotationAssertion( "MIM:620072"^^xsd:string) AnnotationAssertion( "DBA21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002367"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan Anemia 21"^^xsd:string) SubClassOf( ) # Class: (Cutis Marmorata Telangiectatica Congenita) AnnotationAssertion( "MIM:219250"^^xsd:string) AnnotationAssertion( "MESH:C536226"^^xsd:string) AnnotationAssertion( "CMTC"^^xsd:string) AnnotationAssertion( "Hereditary cutis marmorata telangiectatica congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002368"^^xsd:string) AnnotationAssertion(rdfs:label "Cutis Marmorata Telangiectatica Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteogenesis imperfecta type 2C) AnnotationAssertion( "RDO:9000752"^^xsd:string) AnnotationAssertion( "Osteogenesis Imperfecta, Type 2C"^^xsd:string) AnnotationAssertion( "Osteogenesis Imperfecta, Type IIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002369"^^xsd:string) AnnotationAssertion(rdfs:label "osteogenesis imperfecta type 2C"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia-Syndactyly Syndrome 1) AnnotationAssertion( "MIM:613573"^^xsd:string) AnnotationAssertion( "EDSS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002370"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia-Syndactyly Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Cardiotoxicity) AnnotationAssertion(Annotation( "MESH:D066126"^^xsd:string) "Damage to the heart or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION."^^xsd:string) AnnotationAssertion( "EFO:1001482"^^xsd:string) AnnotationAssertion( "MESH:D066126"^^xsd:string) AnnotationAssertion( "Cardiac Toxicities"^^xsd:string) AnnotationAssertion( "Cardiac Toxicity"^^xsd:string) AnnotationAssertion( "Cardiotoxicities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002371"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiotoxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radius Absent Anogenital Anomalies) AnnotationAssertion( "MIM:312190"^^xsd:string) AnnotationAssertion( "MESH:C535281"^^xsd:string) AnnotationAssertion( "Radial Aplasia And Anogenital Anomalies"^^xsd:string) AnnotationAssertion( "Radial aplasia, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002372"^^xsd:string) AnnotationAssertion(rdfs:label "Radius Absent Anogenital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 83) AnnotationAssertion(Annotation( "MIM:620354"^^xsd:string) "A male infertility due to asthenozoospermia. Caused by homozygous mutation in the DNALI1 gene on chromosome 1p34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-28T09:51:57Z"^^xsd:string) AnnotationAssertion( "MIM:620354"^^xsd:string) AnnotationAssertion( "SPGF83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002373"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 83"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coronary Artery Disease, Autosomal Dominant 2) AnnotationAssertion( "MIM:610947"^^xsd:string) AnnotationAssertion( "LRP6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567045"^^xsd:string) AnnotationAssertion( "ADCAD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002374"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Artery Disease, Autosomal Dominant 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Childhood Myocerebrohepatopathy Spectrum) AnnotationAssertion( "MESH:C579990"^^xsd:string) AnnotationAssertion( "RDO:0015869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002375"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Myocerebrohepatopathy Spectrum"^^xsd:string) SubClassOf( ) # Class: (Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant) AnnotationAssertion( "MIM:608257"^^xsd:string) AnnotationAssertion( "MESH:C564267"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002376"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Supravalvar Aortic Stenosis, Eisenberg Type) AnnotationAssertion( "MESH:C538461"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002377"^^xsd:string) AnnotationAssertion(rdfs:label "Supravalvar Aortic Stenosis, Eisenberg Type"^^xsd:string) SubClassOf( ) # Class: (Urethral Neoplasms) AnnotationAssertion(Annotation( "MESH:D014523"^^xsd:string) "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males."^^xsd:string) AnnotationAssertion( "RDO:0006788"^^xsd:string) AnnotationAssertion( "EFO:0003846"^^xsd:string) AnnotationAssertion( "MESH:D014523"^^xsd:string) AnnotationAssertion( "Urethral Neoplasm"^^xsd:string) AnnotationAssertion( "urethra neoplasm"^^xsd:string) AnnotationAssertion( "urethra neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002378"^^xsd:string) AnnotationAssertion(rdfs:label "Urethral Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Deficiency of Pulmonary Surfactant Protein B) AnnotationAssertion( "MESH:C553654"^^xsd:string) AnnotationAssertion( "RDO:0009971"^^xsd:string) AnnotationAssertion( "Congenital Surfactant Protein-B Deficiency"^^xsd:string) AnnotationAssertion( "Pulmonary Surfactant Protein B, Deficiency of"^^xsd:string) AnnotationAssertion( "Surfactant Protein B Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002379"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Deficiency of Pulmonary Surfactant Protein B"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Progressive Familial Intrahepatic Cholestasis 9) AnnotationAssertion(Annotation( "MIM:619849"^^xsd:string) "An autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the ZFYVE19 gene on chromosome 15q15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T11:48:31Z"^^xsd:string) AnnotationAssertion( "MIM:619849"^^xsd:string) AnnotationAssertion( "PFIC9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002381"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 9"^^xsd:string) SubClassOf( ) # Class: (Alopecia Universalis, Onychodystrophy, Vitiligo) AnnotationAssertion( "RDO:0002816"^^xsd:string) AnnotationAssertion( "MESH:C537056"^^xsd:string) AnnotationAssertion( "Alopecia universalis, onychodystrophy, and total vitiligo"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002382"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Universalis, Onychodystrophy, Vitiligo"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lamb-Shaffer Syndrome) AnnotationAssertion( "A neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000386"^^xsd:string) AnnotationAssertion( "MIM:616803"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LAMSHF"^^xsd:string) AnnotationAssertion( "DOID:9002383"^^xsd:string) AnnotationAssertion(rdfs:label "Lamb-Shaffer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Limb-Mammary Syndrome) AnnotationAssertion( "MIM:603543"^^xsd:string) AnnotationAssertion( "MESH:C535903"^^xsd:string) AnnotationAssertion( "LMS"^^xsd:string) AnnotationAssertion( "mammary hypoplasia, ectrodactyly, and other hand-foot anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002385"^^xsd:string) AnnotationAssertion(rdfs:label "Limb-Mammary Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (FG Syndrome 2) AnnotationAssertion(Annotation( "MIM:300321"^^xsd:string) "The phenotypic spectrum and severity of this disease is wide, but the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-17T13:16:31Z"^^xsd:string) AnnotationAssertion( "MIM:300321"^^xsd:string) AnnotationAssertion( "FGS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002387"^^xsd:string) AnnotationAssertion(rdfs:label "FG Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Chromosome 13q Trisomy) AnnotationAssertion( "MESH:C535485"^^xsd:string) AnnotationAssertion( "Duplication 13q"^^xsd:string) AnnotationAssertion( "Trisomy 13q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002388"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13q Trisomy"^^xsd:string) SubClassOf( ) # Class: (Costocoracoid Ligament Congenitally Short) AnnotationAssertion( "MIM:122580"^^xsd:string) AnnotationAssertion( "MESH:C536448"^^xsd:string) AnnotationAssertion( "Congenital shortness of the costocoracoid ligament"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002389"^^xsd:string) AnnotationAssertion(rdfs:label "Costocoracoid Ligament Congenitally Short"^^xsd:string) SubClassOf( ) # Class: (Primary Cutaneous Anaplastic Large Cell Lymphoma) AnnotationAssertion(Annotation( "MESH:D054446"^^xsd:string) "Anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 ANTIGEN. It is characterized by solitary nodules or ulcerated tumors."^^xsd:string) AnnotationAssertion( "MESH:D054446"^^xsd:string) AnnotationAssertion( "Primary Cutaneous CD30 positive Large T Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002390"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Cutaneous Anaplastic Large Cell Lymphoma"^^xsd:string) SubClassOf( ) # Class: (Arterial Dissection with Lentiginosis) AnnotationAssertion( "MIM:600459"^^xsd:string) AnnotationAssertion( "MESH:C563937"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002391"^^xsd:string) AnnotationAssertion(rdfs:label "Arterial Dissection with Lentiginosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Isolated Prolactin Deficiency) AnnotationAssertion( "MIM:264110"^^xsd:string) AnnotationAssertion( "MESH:C562708"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002393"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Prolactin Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTERSTITIAL LUNG AND LIVER DISEASE) AnnotationAssertion(Annotation( "MIM:615486"^^xsd:string) "An autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T10:44:53Z"^^xsd:string) AnnotationAssertion( "MIM:615486"^^xsd:string) AnnotationAssertion( "ILLD"^^xsd:string) AnnotationAssertion( "PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002394"^^xsd:string) AnnotationAssertion(rdfs:label "INTERSTITIAL LUNG AND LIVER DISEASE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypothermia) AnnotationAssertion(Annotation( "MESH:D007035"^^xsd:string) "Lower than normal body temperature, especially in warm-blooded animals."^^xsd:string) AnnotationAssertion( "MESH:D007035"^^xsd:string) AnnotationAssertion( "Accidental Hypothermia"^^xsd:string) AnnotationAssertion( "Accidental Hypothermias"^^xsd:string) AnnotationAssertion( "Hypothermias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002395"^^xsd:string) AnnotationAssertion(rdfs:label "Hypothermia"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia 50) AnnotationAssertion(Annotation( "MIM:620158"^^xsd:string) "An autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Caused by heterozygous mutation in the NPTX1 gene on chromosome 17q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-21T15:33:40Z"^^xsd:string) AnnotationAssertion( "MIM:620158"^^xsd:string) AnnotationAssertion( "SCA50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002396"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 50"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation, Type I/IIx) AnnotationAssertion( "Untyped and unclassified cases of Congenital Disorder of Glycosylation. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:212067"^^xsd:string) AnnotationAssertion( "RDO:0012390"^^xsd:string) AnnotationAssertion( "MESH:C562844"^^xsd:string) AnnotationAssertion( "CDG-x"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002397"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation, Type I/IIx"^^xsd:string) SubClassOf( ) # Class: (ANOREXIA NERVOSA 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-26T10:33:27Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002398"^^xsd:string) AnnotationAssertion(rdfs:label "ANOREXIA NERVOSA 2"^^xsd:string) SubClassOf( ) # Class: (Takotsubo Cardiomyopathy) AnnotationAssertion(Annotation( "MESH:D054549"^^xsd:string) "A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress."^^xsd:string) AnnotationAssertion( "EFO:1002000"^^xsd:string) AnnotationAssertion( "MESH:D054549"^^xsd:string) AnnotationAssertion( "NCI:C85181"^^xsd:string) AnnotationAssertion( "RDO:0004600"^^xsd:string) AnnotationAssertion( "Apical Ballooning Syndrome"^^xsd:string) AnnotationAssertion( "Broken Heart Syndrome"^^xsd:string) AnnotationAssertion( "Left Ventricular Apical Ballooning Syndrome"^^xsd:string) AnnotationAssertion( "Stress Cardiomyopathy"^^xsd:string) AnnotationAssertion( "Syndromes, Broken Heart"^^xsd:string) AnnotationAssertion( "Tako tsubo Cardiomyopathy"^^xsd:string) AnnotationAssertion( "Tako tsubo Syndrome"^^xsd:string) AnnotationAssertion( "Tako-tsubo Syndromes"^^xsd:string) AnnotationAssertion( "Takotsubo Syndrome"^^xsd:string) AnnotationAssertion( "Transient Apical Ballooning Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002399"^^xsd:string) AnnotationAssertion(rdfs:label "Takotsubo Cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy) AnnotationAssertion( "MIM:207740"^^xsd:string) AnnotationAssertion( "MESH:C565945"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002400"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Slowed Nerve Conduction Velocity, Autosomal Dominant) AnnotationAssertion( "MIM:608236"^^xsd:string) AnnotationAssertion( "OMIA:001917"^^xsd:string) AnnotationAssertion( "MESH:C564269"^^xsd:string) AnnotationAssertion( "RDO:0013292"^^xsd:string) AnnotationAssertion( "SNCV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002402"^^xsd:string) AnnotationAssertion(rdfs:label "Slowed Nerve Conduction Velocity, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome) AnnotationAssertion( "GARD:10341"^^xsd:string) AnnotationAssertion( "MESH:C566381"^^xsd:string) AnnotationAssertion( "MIM:PS603387"^^xsd:string) AnnotationAssertion( "MONDO:0019375"^^xsd:string) AnnotationAssertion( "ORDO:83473"^^xsd:string) AnnotationAssertion( "MPPH"^^xsd:string) AnnotationAssertion( "Meg-Pmg-Megacc Syndrome"^^xsd:string) AnnotationAssertion( "Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development"^^xsd:string) AnnotationAssertion( "Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome"^^xsd:string) AnnotationAssertion( "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"^^xsd:string) AnnotationAssertion( "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002403"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Systemic Hemosiderosis due to Aceruloplasminemia) AnnotationAssertion( "MESH:C565801"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002404"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Hemosiderosis due to Aceruloplasminemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bernard-Soulier Syndrome, Autosomal Dominant) AnnotationAssertion( "MESH:C567696"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002406"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier Syndrome, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Spinal Fractures) AnnotationAssertion(Annotation( "MESH:D016103"^^xsd:string) "Broken bones in the vertebral column."^^xsd:string) AnnotationAssertion( "EFO:0003902"^^xsd:string) AnnotationAssertion( "MESH:D016103"^^xsd:string) AnnotationAssertion( "Hangman Fracture"^^xsd:string) AnnotationAssertion( "Hangman's Fracture"^^xsd:string) AnnotationAssertion( "Hangmans Fracture"^^xsd:string) AnnotationAssertion( "Spinal Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002407"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sketetal Dysplasia Coarse Facies Mental Retardation) AnnotationAssertion( "MESH:C536671"^^xsd:string) AnnotationAssertion( "RDO:0002317"^^xsd:string) AnnotationAssertion( "Spondyloepimetaphyseal dysplasia X-linked with mental deterioration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002408"^^xsd:string) AnnotationAssertion(rdfs:label "Sketetal Dysplasia Coarse Facies Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Amniotic Band Sequence) AnnotationAssertion( "MIM:217100"^^xsd:string) AnnotationAssertion( "MESH:C531614"^^xsd:string) AnnotationAssertion( "Amniotic bands sequence"^^xsd:string) AnnotationAssertion( "Congenital constricting bands"^^xsd:string) AnnotationAssertion( "Familial amniotic bands"^^xsd:string) AnnotationAssertion( "Streeter anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002409"^^xsd:string) AnnotationAssertion(rdfs:label "Amniotic Band Sequence"^^xsd:string) SubClassOf( ) # Class: (Saul Wilkes Stevenson syndrome) AnnotationAssertion( "MESH:C536617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002410"^^xsd:string) AnnotationAssertion(rdfs:label "Saul Wilkes Stevenson syndrome"^^xsd:string) SubClassOf( ) # Class: (Crome Syndrome) AnnotationAssertion( "MIM:218900"^^xsd:string) AnnotationAssertion( "MESH:C536216"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002411"^^xsd:string) AnnotationAssertion(rdfs:label "Crome Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ovarian Dysgenesis 10) AnnotationAssertion(Annotation( "MIM:619834"^^xsd:string) "Characterized by primary amenorrhea and absent puberty. Caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-12T14:30:46Z"^^xsd:string) AnnotationAssertion( "MIM:619834"^^xsd:string) AnnotationAssertion( "ODG10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002412"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Dysgenesis 10"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619522"^^xsd:string) "This disease is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T15:28:16Z"^^xsd:string) AnnotationAssertion( "MIM:619522"^^xsd:string) AnnotationAssertion( "NECRC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002414"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension) AnnotationAssertion( "MIM:166990"^^xsd:string) AnnotationAssertion( "MESH:C563478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002415"^^xsd:string) AnnotationAssertion(rdfs:label "Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X Inactivation, Familial Skewed, 1) AnnotationAssertion( "MIM:300087"^^xsd:string) AnnotationAssertion( "MESH:C564716"^^xsd:string) AnnotationAssertion( "SXI1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002416"^^xsd:string) AnnotationAssertion(rdfs:label "X Inactivation, Familial Skewed, 1"^^xsd:string) SubClassOf( ) # Class: (Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant) AnnotationAssertion( "A form of cerebral small vessel disease (cSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T13:15:11Z"^^xsd:string) AnnotationAssertion( "MIM:618564"^^xsd:string) AnnotationAssertion( "DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE"^^xsd:string) AnnotationAssertion( "PADMAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002417"^^xsd:string) AnnotationAssertion(rdfs:label "Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 22, Monosome Mosaic) AnnotationAssertion( "MESH:C536798"^^xsd:string) AnnotationAssertion( "RDO:0002489"^^xsd:string) AnnotationAssertion( "Chromosome 22 mosaic monosomy"^^xsd:string) AnnotationAssertion( "Mosaic Monosome 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002418"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 22, Monosome Mosaic"^^xsd:string) SubClassOf( ) # Class: (Multisystem Autoimmune Disease, Infantile-Onset) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS615952"^^xsd:string) AnnotationAssertion( "RDO:9005173"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002419"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystem Autoimmune Disease, Infantile-Onset"^^xsd:string) SubClassOf( ) # Class: (BDV Syndrome) AnnotationAssertion(Annotation( "MIM:619326"^^xsd:string) "This disease is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-13T17:40:22Z"^^xsd:string) AnnotationAssertion( "MIM:619326"^^xsd:string) AnnotationAssertion( "BDV"^^xsd:string) AnnotationAssertion( "Blakemore-Durmaz-Vasileiou syndrome"^^xsd:string) AnnotationAssertion( "CPE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IDDHH"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002420"^^xsd:string) AnnotationAssertion(rdfs:label "BDV Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development) AnnotationAssertion( "An early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T17:05:56Z"^^xsd:string) AnnotationAssertion( "MIM:618124"^^xsd:string) AnnotationAssertion( "MCM3AP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PNRIID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002421"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia, Anemia, and Myelofibrosis) AnnotationAssertion( "RDO:9001733"^^xsd:string) AnnotationAssertion( "MIM:617441"^^xsd:string) AnnotationAssertion( "THAMY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002422"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia, Anemia, and Myelofibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spirochaetales Infections) AnnotationAssertion(Annotation( "MESH:D013145"^^xsd:string) "Infections with bacteria of the order SPIROCHAETALES."^^xsd:string) AnnotationAssertion( "EFO:0009567"^^xsd:string) AnnotationAssertion( "MESH:D013145"^^xsd:string) AnnotationAssertion( "RDO:0005038"^^xsd:string) AnnotationAssertion( "Spirochaetales Infection"^^xsd:string) AnnotationAssertion( "Spirochete Infection"^^xsd:string) AnnotationAssertion( "Spirochete Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002423"^^xsd:string) AnnotationAssertion(rdfs:label "Spirochaetales Infections"^^xsd:string) SubClassOf( ) # Class: (SCARF Syndrome) AnnotationAssertion( "MIM:312830"^^xsd:string) AnnotationAssertion( "MESH:C536625"^^xsd:string) AnnotationAssertion( "Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, And Facial Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002424"^^xsd:string) AnnotationAssertion(rdfs:label "SCARF Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ventricular Fibrillation, Paroxysmal Familial, 2) AnnotationAssertion( "MIM:612956"^^xsd:string) AnnotationAssertion( "MESH:C567841"^^xsd:string) AnnotationAssertion( "RDO:0012060"^^xsd:string) AnnotationAssertion( "VF2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002426"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Fibrillation, Paroxysmal Familial, 2"^^xsd:string) SubClassOf( ) # Class: (Fetal Macrosomia) AnnotationAssertion(Annotation( "MESH:D005320"^^xsd:string) "A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus."^^xsd:string) AnnotationAssertion( "MESH:D005320"^^xsd:string) AnnotationAssertion( "Fetal Macrosomias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002427"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Macrosomia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blue Rubber Bleb Nevus Syndrome) AnnotationAssertion( "MIM:112200"^^xsd:string) AnnotationAssertion( "MESH:C536240"^^xsd:string) AnnotationAssertion( "Bean syndrome"^^xsd:string) AnnotationAssertion( "Blue rubber bleb nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002428"^^xsd:string) AnnotationAssertion(rdfs:label "Blue Rubber Bleb Nevus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Colorblindness, Partial Tritanomaly) AnnotationAssertion( "MESH:C564440"^^xsd:string) AnnotationAssertion( "RDO:0013404"^^xsd:string) AnnotationAssertion( "Tritanomalous Colorblindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002429"^^xsd:string) AnnotationAssertion(rdfs:label "Colorblindness, Partial Tritanomaly"^^xsd:string) SubClassOf( ) # Class: (Tarsal Coalition) AnnotationAssertion(Annotation( "MESH:D000070604"^^xsd:string) "Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature."^^xsd:string) AnnotationAssertion( "MIM:186850"^^xsd:string) AnnotationAssertion( "MESH:D000070604"^^xsd:string) AnnotationAssertion( "Tarsal Coalitions"^^xsd:string) AnnotationAssertion( "Tarsal Fusion"^^xsd:string) AnnotationAssertion( "Tarsal Synostoses"^^xsd:string) AnnotationAssertion( "Tarsal Synostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002430"^^xsd:string) AnnotationAssertion(rdfs:label "Tarsal Coalition"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microcornea, Glaucoma, and Absent Frontal Sinuses) AnnotationAssertion( "MIM:156700"^^xsd:string) AnnotationAssertion( "MESH:C537552"^^xsd:string) AnnotationAssertion( "Hereditary microcornea, glaucoma, and absent frontal sinuses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002431"^^xsd:string) AnnotationAssertion(rdfs:label "Microcornea, Glaucoma, and Absent Frontal Sinuses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Orofaciodigital Syndrome 13) AnnotationAssertion( "MESH:C548035"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002432"^^xsd:string) AnnotationAssertion(rdfs:label "Orofaciodigital Syndrome 13"^^xsd:string) SubClassOf( ) # Class: (Schistosomiasis Japonica) AnnotationAssertion(Annotation( "MESH:D012554"^^xsd:string) "Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen."^^xsd:string) AnnotationAssertion( "EFO:1001419"^^xsd:string) AnnotationAssertion( "MESH:D012554"^^xsd:string) AnnotationAssertion( "NCI:C35001"^^xsd:string) AnnotationAssertion( "schistosoma japonicum infection"^^xsd:string) AnnotationAssertion( "schistosomiasis japonicum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002433"^^xsd:string) AnnotationAssertion(rdfs:label "Schistosomiasis Japonica"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 3) AnnotationAssertion( "MIM:608586"^^xsd:string) AnnotationAssertion( "MESH:C563900"^^xsd:string) AnnotationAssertion( "KTCN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002434"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 3"^^xsd:string) SubClassOf( ) # Class: (Metabolic Skin Diseases) AnnotationAssertion(Annotation( "MESH:D012875"^^xsd:string) "Diseases of the skin associated with underlying metabolic disorders."^^xsd:string) AnnotationAssertion( "MESH:D012875"^^xsd:string) AnnotationAssertion( "Metabolic Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002435"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Skin Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Foreign-Body Reaction) AnnotationAssertion(Annotation( "MESH:D005549"^^xsd:string) "Chronic inflammation and granuloma formation around irritating foreign bodies."^^xsd:string) AnnotationAssertion( "MESH:D005549"^^xsd:string) AnnotationAssertion( "RDO:0005626"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002438"^^xsd:string) AnnotationAssertion(rdfs:label "Foreign-Body Reaction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oliver Syndrome) AnnotationAssertion( "MIM:258200"^^xsd:string) AnnotationAssertion( "MESH:C564931"^^xsd:string) AnnotationAssertion( "postaxial polydactyly and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002439"^^xsd:string) AnnotationAssertion(rdfs:label "Oliver Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-22T08:38:09Z"^^xsd:string) AnnotationAssertion( "MIM:618848"^^xsd:string) AnnotationAssertion( "LGMDR26"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy-26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002441"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dupuytren Contracture 1) AnnotationAssertion( "MESH:C565083"^^xsd:string) AnnotationAssertion( "RDO:0013821"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002443"^^xsd:string) AnnotationAssertion(rdfs:label "Dupuytren Contracture 1"^^xsd:string) SubClassOf( ) # Class: (Madelung Deformity) AnnotationAssertion( "MESH:C562398"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002444"^^xsd:string) AnnotationAssertion(rdfs:label "Madelung Deformity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anal Sphincter Dysplasia) AnnotationAssertion( "MIM:105563"^^xsd:string) AnnotationAssertion( "MESH:C538254"^^xsd:string) AnnotationAssertion( "ASDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002445"^^xsd:string) AnnotationAssertion(rdfs:label "Anal Sphincter Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency 5) AnnotationAssertion( "MESH:C531815"^^xsd:string) AnnotationAssertion( "MESH:C567632"^^xsd:string) AnnotationAssertion( "CPHD5"^^xsd:string) AnnotationAssertion( "growth hormone deficiency with pituitary anomalies"^^xsd:string) AnnotationAssertion( "hypopituitarism and septooptic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002446"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myoectodermal Gonadal Dysgenesis Syndrome) AnnotationAssertion( "GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. GDRM is caused by homozygous mutation in the PPP2R3C gene on chromosome 14q13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-05-29T11:34:32Z"^^xsd:string) AnnotationAssertion( "DOID:9004145"^^xsd:string) AnnotationAssertion( "DOID:9007683"^^xsd:string) AnnotationAssertion( "MESH:C537019"^^xsd:string) AnnotationAssertion( "MESH:C565536"^^xsd:string) AnnotationAssertion( "MIM:618419"^^xsd:string) AnnotationAssertion( "AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS"^^xsd:string) AnnotationAssertion( "Agonadism mental retardation delayed bone age"^^xsd:string) AnnotationAssertion( "BKGK"^^xsd:string) AnnotationAssertion( "Brosnan-Kennerknecht-Guran-Koc Syndrome"^^xsd:string) AnnotationAssertion( "GDRM"^^xsd:string) AnnotationAssertion( "Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy"^^xsd:string) AnnotationAssertion( "Gonadal Dysgenesis, XY Type, with Associated Anomalies"^^xsd:string) AnnotationAssertion( "Kennerknecht Vogel Syndrome"^^xsd:string) AnnotationAssertion( "MEGD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002447"^^xsd:string) AnnotationAssertion(rdfs:label "Myoectodermal Gonadal Dysgenesis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thrombotic Thrombocytopenic Purpura, Acquired) AnnotationAssertion( "MESH:C536901"^^xsd:string) AnnotationAssertion( "Idiopathic thrombotic thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "Moschowitz syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002448"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombotic Thrombocytopenic Purpura, Acquired"^^xsd:string) SubClassOf( ) # Class: (Glomus Jugulare Tumor) AnnotationAssertion(Annotation( "MESH:D005925"^^xsd:string) "A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)"^^xsd:string) AnnotationAssertion( "EFO:1000353"^^xsd:string) AnnotationAssertion( "EFO:1001796"^^xsd:string) AnnotationAssertion( "MESH:D005925"^^xsd:string) AnnotationAssertion( "familial glomus tumors, 1"^^xsd:string) AnnotationAssertion( "glomus jugulare tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002449"^^xsd:string) AnnotationAssertion(rdfs:label "Glomus Jugulare Tumor"^^xsd:string) SubClassOf( ) # Class: (Iliotibial Band Syndrome) AnnotationAssertion(Annotation( "MESH:D058745"^^xsd:string) "An overuse injury causing lateral knee pain that results from repetitive friction of the iliotibial band over the lateral femoral epicondyle."^^xsd:string) AnnotationAssertion( "MESH:D058745"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002450"^^xsd:string) AnnotationAssertion(rdfs:label "Iliotibial Band Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Macrodactyly of the Foot) AnnotationAssertion( "MESH:C537719"^^xsd:string) AnnotationAssertion( "RDO:0003608"^^xsd:string) AnnotationAssertion( "Megalodactylism of the foot"^^xsd:string) AnnotationAssertion( "Megalodactyly of the foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002451"^^xsd:string) AnnotationAssertion(rdfs:label "Macrodactyly of the Foot"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cafe-au-Lait Spots) AnnotationAssertion(Annotation( "MESH:D019080"^^xsd:string) "Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC)."^^xsd:string) AnnotationAssertion( "MESH:D019080"^^xsd:string) AnnotationAssertion( "RDO:0000894"^^xsd:string) AnnotationAssertion( "Cafe-au-Lait Spot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002453"^^xsd:string) AnnotationAssertion(rdfs:label "Cafe-au-Lait Spots"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Peritonsillar Abscess) AnnotationAssertion(Annotation( "MESH:D000039"^^xsd:string) "An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule."^^xsd:string) AnnotationAssertion( "EFO:0007429"^^xsd:string) AnnotationAssertion( "MESH:D000039"^^xsd:string) AnnotationAssertion( "Peritonsillar Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002456"^^xsd:string) AnnotationAssertion(rdfs:label "Peritonsillar Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Arthritis) AnnotationAssertion(Annotation( "MESH:D001169"^^xsd:string) "ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN."^^xsd:string) AnnotationAssertion( "EFO:1001787"^^xsd:string) AnnotationAssertion( "MESH:D001169"^^xsd:string) AnnotationAssertion( "Adjuvant Arthritis"^^xsd:string) AnnotationAssertion( "Arthritis, Adjuvant-Induced"^^xsd:string) AnnotationAssertion( "Collagen Arthritides"^^xsd:string) AnnotationAssertion( "Collagen Arthritis"^^xsd:string) AnnotationAssertion( "Collagen-Induced Arthritides"^^xsd:string) AnnotationAssertion( "Collagen-Induced Arthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002457"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Roifman Syndrome) AnnotationAssertion( "MIM:616651"^^xsd:string) AnnotationAssertion( "MESH:C535866"^^xsd:string) AnnotationAssertion( "RFMN"^^xsd:string) AnnotationAssertion( "SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY"^^xsd:string) AnnotationAssertion( "Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002458"^^xsd:string) AnnotationAssertion(rdfs:label "Roifman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ocular sarcoidosis) AnnotationAssertion(Annotation( "EFO:0010723"^^xsd:string) "This disease is a leading cause of inflammatory eye disease. Ocular sarcoidosis can involve any part of the eye, and may cause uveitis, scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-20T13:22:38Z"^^xsd:string) AnnotationAssertion( "EFO:0010723"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002459"^^xsd:string) AnnotationAssertion(rdfs:label "ocular sarcoidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 7) AnnotationAssertion(Annotation( "MIM:619658"^^xsd:string) "An autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Caused by homozygous or compound heterozygous mutation in the USP53 gene on chromosome 4q26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-22T09:23:10Z"^^xsd:string) AnnotationAssertion( "MIM:619658"^^xsd:string) AnnotationAssertion( "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS"^^xsd:string) AnnotationAssertion( "PFIC7"^^xsd:string) AnnotationAssertion( "progressive intrahepatic cholestasis 7 with or without hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002460"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 7"^^xsd:string) SubClassOf( ) # Class: (Pruritus Vulvae) AnnotationAssertion(Annotation( "MESH:D011539"^^xsd:string) "Intense itching of the external female genitals."^^xsd:string) AnnotationAssertion( "MESH:D011539"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002461"^^xsd:string) AnnotationAssertion(rdfs:label "Pruritus Vulvae"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Symphalangism, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch) AnnotationAssertion( "MIM:606895"^^xsd:string) AnnotationAssertion( "MESH:C538148"^^xsd:string) AnnotationAssertion( "Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002462"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Symphalangism, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch"^^xsd:string) SubClassOf( ) # Class: (Premature Aging Syndrome, Okamoto Type) AnnotationAssertion( "MIM:601811"^^xsd:string) AnnotationAssertion( "MESH:C566621"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002463"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Aging Syndrome, Okamoto Type"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Hypophysitis) AnnotationAssertion(Annotation( "MESH:D000069281"^^xsd:string) "Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE)."^^xsd:string) AnnotationAssertion( "MESH:D000069281"^^xsd:string) AnnotationAssertion( "Anti PIT 1 Antibody Syndrome"^^xsd:string) AnnotationAssertion( "Anti-PIT-1 Antibody Syndromes"^^xsd:string) AnnotationAssertion( "Autoimmune Hypophysitides"^^xsd:string) AnnotationAssertion( "Idiopathic Granulomatous Hypophysitides"^^xsd:string) AnnotationAssertion( "Idiopathic Granulomatous Hypophysitis"^^xsd:string) AnnotationAssertion( "IgG4 Related Hypophysitis"^^xsd:string) AnnotationAssertion( "IgG4-Related Hypophysitides"^^xsd:string) AnnotationAssertion( "Lymphocytic Adenohypophysitides"^^xsd:string) AnnotationAssertion( "Lymphocytic Adenohypophysitis"^^xsd:string) AnnotationAssertion( "Lymphocytic Hypophysitides"^^xsd:string) AnnotationAssertion( "Lymphocytic Hypophysitis"^^xsd:string) AnnotationAssertion( "Lymphocytic Infundibuloneurohypophysitides"^^xsd:string) AnnotationAssertion( "Lymphocytic Infundibuloneurohypophysitis"^^xsd:string) AnnotationAssertion( "Lymphocytic Panhypophysitides"^^xsd:string) AnnotationAssertion( "Lymphocytic Panhypophysitis"^^xsd:string) AnnotationAssertion( "Lymphoid Hypophysitides"^^xsd:string) AnnotationAssertion( "Lymphoid Hypophysitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002464"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Hypophysitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis) AnnotationAssertion( "MIM:192050"^^xsd:string) AnnotationAssertion( "MESH:C566010"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002465"^^xsd:string) AnnotationAssertion(rdfs:label "Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis"^^xsd:string) SubClassOf( ) # Class: (Ring Chromosome 20 Syndrome) AnnotationAssertion( "RDO:0000451"^^xsd:string) AnnotationAssertion( "MESH:C535369"^^xsd:string) AnnotationAssertion( "MESH:C580424"^^xsd:string) AnnotationAssertion( "NCI:C169001"^^xsd:string) AnnotationAssertion( "RDO:0015922"^^xsd:string) AnnotationAssertion( "R(20) Syndrome"^^xsd:string) AnnotationAssertion( "Ring 20 Syndrome"^^xsd:string) AnnotationAssertion( "Ring Chromosome 20"^^xsd:string) AnnotationAssertion( "Ring Chromosome 20 Epilepsy Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002466"^^xsd:string) AnnotationAssertion(rdfs:label "Ring Chromosome 20 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mycoplasma Infections) AnnotationAssertion(Annotation( "MESH:D009175"^^xsd:string) "Infections with species of the genus MYCOPLASMA."^^xsd:string) AnnotationAssertion( "MESH:D009175"^^xsd:string) AnnotationAssertion( "Eperythrozoonoses"^^xsd:string) AnnotationAssertion( "Eperythrozoonosis"^^xsd:string) AnnotationAssertion( "Mycoplasma Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002467"^^xsd:string) AnnotationAssertion(rdfs:label "Mycoplasma Infections"^^xsd:string) SubClassOf( ) # Class: (Sleep Paralysis) AnnotationAssertion(Annotation( "MESH:D020188"^^xsd:string) "A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271)"^^xsd:string) AnnotationAssertion( "MESH:D020188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002468"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep Paralysis"^^xsd:string) SubClassOf( ) # Class: (Carpenter Syndrome 2) AnnotationAssertion( "MIM:614976"^^xsd:string) AnnotationAssertion( "CRPT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002469"^^xsd:string) AnnotationAssertion(rdfs:label "Carpenter Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome) AnnotationAssertion( "RDO:9000495"^^xsd:string) AnnotationAssertion( "MIM:615147"^^xsd:string) AnnotationAssertion( "RDCCAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002470"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 6) AnnotationAssertion( "An autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea. Caused by homozygous mutation in the SLC51A gene on chromosome 3q29. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T10:40:16Z"^^xsd:string) AnnotationAssertion( "MIM:619484"^^xsd:string) AnnotationAssertion( "PFIC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002471"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 6"^^xsd:string) SubClassOf( ) # Class: (Small Intestinal Diverticulosis) AnnotationAssertion( "MIM:223320"^^xsd:string) AnnotationAssertion( "MESH:C565620"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002472"^^xsd:string) AnnotationAssertion(rdfs:label "Small Intestinal Diverticulosis"^^xsd:string) SubClassOf( ) # Class: (Blast Crisis) AnnotationAssertion(Annotation( "MESH:D001752"^^xsd:string) "An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%."^^xsd:string) AnnotationAssertion( "EFO:1000131"^^xsd:string) AnnotationAssertion( "MESH:D001752"^^xsd:string) AnnotationAssertion( "Blast Crises"^^xsd:string) AnnotationAssertion( "Blast Phase"^^xsd:string) AnnotationAssertion( "Blast Phases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002473"^^xsd:string) AnnotationAssertion(rdfs:label "Blast Crisis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isolated Microphthalmia with Cataract 4) AnnotationAssertion( "MESH:C566480"^^xsd:string) AnnotationAssertion( "MCOPCT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002474"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Cataract 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Nephropathic Cystinosis) AnnotationAssertion( "RDO:0014234"^^xsd:string) AnnotationAssertion( "MESH:C565655"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002476"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Nephropathic Cystinosis"^^xsd:string) SubClassOf( ) # Class: (Sensorineural Deafness and Male Infertility) AnnotationAssertion( "MIM:611102"^^xsd:string) AnnotationAssertion( "MESH:C567010"^^xsd:string) AnnotationAssertion( "Chromosome 15q15.3 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "DIS"^^xsd:string) AnnotationAssertion( "Deafness-Infertility Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002477"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Deafness and Male Infertility"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Otofaciocervical Syndrome 2) AnnotationAssertion( "MIM:615560"^^xsd:string) AnnotationAssertion( "OCULO-AURICULO-VERTEBRAL SPECTRUM"^^xsd:string) AnnotationAssertion( "OFC2"^^xsd:string) AnnotationAssertion( "OTFCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002479"^^xsd:string) AnnotationAssertion(rdfs:label "Otofaciocervical Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hydrocephalus, Endocardial Fibroelastosis, and Cataracts) AnnotationAssertion( "MIM:600559"^^xsd:string) AnnotationAssertion( "MESH:C535855"^^xsd:string) AnnotationAssertion( "HEC syndrome"^^xsd:string) AnnotationAssertion( "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002480"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrocephalus, Endocardial Fibroelastosis, and Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mitochondrial Myopathy with Diabetes) AnnotationAssertion( "MIM:500002"^^xsd:string) AnnotationAssertion( "MESH:C564026"^^xsd:string) AnnotationAssertion( "Mitochondrial Myopathy, Lipid Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002482"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy with Diabetes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency) AnnotationAssertion( "MESH:C564868"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002483"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Maxillary Diseases) AnnotationAssertion(Annotation( "MESH:D008439"^^xsd:string) "Diseases involving the MAXILLA."^^xsd:string) AnnotationAssertion( "MESH:D008439"^^xsd:string) AnnotationAssertion( "Maxillary Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002484"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillary Diseases"^^xsd:string) SubClassOf( ) # Class: (Epiphyseal Dysplasia, Baumann Type) AnnotationAssertion( "MIM:610797"^^xsd:string) AnnotationAssertion( "MESH:C563664"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002485"^^xsd:string) AnnotationAssertion(rdfs:label "Epiphyseal Dysplasia, Baumann Type"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Generalized Epilepsy 18) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-14T16:20:43Z"^^xsd:string) AnnotationAssertion( "MIM:619521"^^xsd:string) AnnotationAssertion( "EIG18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 18"^^xsd:string) AnnotationAssertion( "DOID:9002486"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Generalized Epilepsy 18"^^xsd:string) SubClassOf( ) # Class: (Trueb Burg Bottani Syndrome) AnnotationAssertion( "MESH:C536565"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia with corkscrew hairs"^^xsd:string) AnnotationAssertion( "Tricho-odonto-onychodysplasia with syndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002487"^^xsd:string) AnnotationAssertion(rdfs:label "Trueb Burg Bottani Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peritoneal Fibrosis) AnnotationAssertion(Annotation( "MESH:D056627"^^xsd:string) "Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency."^^xsd:string) AnnotationAssertion( "EFO:1001394"^^xsd:string) AnnotationAssertion( "MESH:D056627"^^xsd:string) AnnotationAssertion( "RDO:0007745"^^xsd:string) AnnotationAssertion( "Encapsulating Peritoneal Scleroses"^^xsd:string) AnnotationAssertion( "Encapsulating Peritoneal Sclerosis"^^xsd:string) AnnotationAssertion( "Peritoneal Fibroses"^^xsd:string) AnnotationAssertion( "Peritoneal Fibrosing Syndrome"^^xsd:string) AnnotationAssertion( "Peritoneal Fibrosing Syndromes"^^xsd:string) AnnotationAssertion( "Peritoneal Scleroses"^^xsd:string) AnnotationAssertion( "Peritoneal Sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002488"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Genochondromatosis) AnnotationAssertion( "MIM:137360"^^xsd:string) AnnotationAssertion( "MESH:C563215"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002489"^^xsd:string) AnnotationAssertion(rdfs:label "Genochondromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Benign Recurrent Vertigo 1) AnnotationAssertion( "MIM:193007"^^xsd:string) AnnotationAssertion( "MESH:C567620"^^xsd:string) AnnotationAssertion( "BRV1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002490"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Recurrent Vertigo 1"^^xsd:string) SubClassOf( ) # Class: (Pre-Excitation Syndromes) AnnotationAssertion(Annotation( "MESH:D011226"^^xsd:string) "A group of conditions in which HEART VENTRICLE activation by the atrial impulse is faster than the normal impulse conduction from the SINOATRIAL NODE. In these pre-excitation syndromes, atrial impulses often bypass the ATRIOVENTRICULAR NODE delay and travel via ACCESSORY CONDUCTING PATHWAYS connecting the atrium directly to the BUNDLE OF HIS."^^xsd:string) AnnotationAssertion( "MESH:D011226"^^xsd:string) AnnotationAssertion( "Pre-Excitation Syndrome"^^xsd:string) AnnotationAssertion( "Preexcitation Syndrome"^^xsd:string) AnnotationAssertion( "Preexcitation Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002491"^^xsd:string) AnnotationAssertion(rdfs:label "Pre-Excitation Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auriculocondylar Syndrome 1) AnnotationAssertion( "MIM:602483"^^xsd:string) AnnotationAssertion( "ARCND1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002492"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculocondylar Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Ocular Neovascularization) AnnotationAssertion( "Formation of new blood vessels invading the cornea, the retina, or the choroid."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001268"^^xsd:string) AnnotationAssertion( "neovascularization within the eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002493"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Neovascularization"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Myopathy with Lactic Acidosis) AnnotationAssertion( "MIM:251950"^^xsd:string) AnnotationAssertion( "MESH:C537476"^^xsd:string) AnnotationAssertion( "MMLA"^^xsd:string) AnnotationAssertion( "EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002494"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy with Lactic Acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fitzsimmons Walson Mellor Syndrome) AnnotationAssertion( "MESH:C537937"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002495"^^xsd:string) AnnotationAssertion(rdfs:label "Fitzsimmons Walson Mellor Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia) AnnotationAssertion( "MESH:C565328"^^xsd:string) AnnotationAssertion( "MIM:PS605432"^^xsd:string) AnnotationAssertion( "CTRUS"^^xsd:string) AnnotationAssertion( "RUSAT"^^xsd:string) AnnotationAssertion( "congenital thrombocytopenia with radioulnar synostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002496"^^xsd:string) AnnotationAssertion(rdfs:label "Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immune Suppression) AnnotationAssertion( "MIM:146850"^^xsd:string) AnnotationAssertion( "IS"^^xsd:string) AnnotationAssertion( "ISCW"^^xsd:string) AnnotationAssertion( "ISSCW"^^xsd:string) AnnotationAssertion( "suppression of immune response to streptococcal cell wall antigen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002497"^^xsd:string) AnnotationAssertion(rdfs:label "Immune Suppression"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wallerian Degeneration) AnnotationAssertion(Annotation( "MESH:D014855"^^xsd:string) "Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH."^^xsd:string) AnnotationAssertion( "MESH:D014855"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002498"^^xsd:string) AnnotationAssertion(rdfs:label "Wallerian Degeneration"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hearing Disorders) AnnotationAssertion(Annotation( "MESH:D006311"^^xsd:string) "Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways."^^xsd:string) AnnotationAssertion( "MESH:D006311"^^xsd:string) AnnotationAssertion( "Distorted Hearing"^^xsd:string) AnnotationAssertion( "Dysacusis"^^xsd:string) AnnotationAssertion( "Hearing Disorder"^^xsd:string) AnnotationAssertion( "Paracousis"^^xsd:string) AnnotationAssertion( "Paracusis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002500"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Roseolovirus Infections) AnnotationAssertion(Annotation( "MESH:D019349"^^xsd:string) "Infection with ROSEOLOVIRUS, the most common in humans being EXANTHEMA SUBITUM, a benign disease of infants and young children."^^xsd:string) AnnotationAssertion( "EFO:0007474"^^xsd:string) AnnotationAssertion( "MESH:D019349"^^xsd:string) AnnotationAssertion( "Roseolovirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002501"^^xsd:string) AnnotationAssertion(rdfs:label "Roseolovirus Infections"^^xsd:string) SubClassOf( ) # Class: (Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts) AnnotationAssertion( "MIM:613730"^^xsd:string) AnnotationAssertion( "RDO:0009957"^^xsd:string) AnnotationAssertion( "HDBSCC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002502"^^xsd:string) AnnotationAssertion(rdfs:label "Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neutropenic Enterocolitis) AnnotationAssertion(Annotation( "MESH:D044504"^^xsd:string) "A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)."^^xsd:string) AnnotationAssertion( "RDO:0007510"^^xsd:string) AnnotationAssertion( "EFO:1001816"^^xsd:string) AnnotationAssertion( "MESH:D044504"^^xsd:string) AnnotationAssertion( "Ileocecal Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002503"^^xsd:string) AnnotationAssertion(rdfs:label "Neutropenic Enterocolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Odontogenic Cysts) AnnotationAssertion(Annotation( "MESH:D009807"^^xsd:string) "Cysts found in the jaws and arising from epithelium involved in tooth formation. They include follicular cysts (e.g., primordial cyst, dentigerous cyst, multilocular cyst), lateral periodontal cysts, and radicular cysts. They may become keratinized (odontogenic keratocysts). Follicular cysts may give rise to ameloblastomas and, in rare cases, undergo malignant transformation."^^xsd:string) AnnotationAssertion( "EFO:1000406"^^xsd:string) AnnotationAssertion( "MESH:D009807"^^xsd:string) AnnotationAssertion( "Keratocyst"^^xsd:string) AnnotationAssertion( "Keratocysts"^^xsd:string) AnnotationAssertion( "Odontogenic Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002504"^^xsd:string) AnnotationAssertion(rdfs:label "Odontogenic Cysts"^^xsd:string) SubClassOf( ) # Class: (Wilms Tumor 3) AnnotationAssertion( "MIM:194090"^^xsd:string) AnnotationAssertion( "MESH:C565991"^^xsd:string) AnnotationAssertion( "WT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002505"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor 3"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 88) AnnotationAssertion(Annotation( "MIM:620283"^^xsd:string) "A nonsyndromic postlingual progressive severe sensorineural hearing loss with tinnitus, caused by heterozygous mutation in the EPHA10 gene on chromosome 1p34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-14T10:12:31Z"^^xsd:string) AnnotationAssertion( "MIM:620283"^^xsd:string) AnnotationAssertion( "DFNA88"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002506"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 88"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Malformation 12) AnnotationAssertion(Annotation( "MIM:620014"^^xsd:string) "A disease characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Caused by homozygous or compound heterozygous mutation in the MDFIC gene on chromosome 7q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-24T09:52:53Z"^^xsd:string) AnnotationAssertion( "MIM:620014"^^xsd:string) AnnotationAssertion( "LMPHM12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002507"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 12"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 87 and Autoimmunity) AnnotationAssertion( "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Caused by homozygous mutation in the DEF6 gene on chromosome 6p21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-27T16:55:05Z"^^xsd:string) AnnotationAssertion( "MIM:619573"^^xsd:string) AnnotationAssertion( "DEF6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IMD87"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002508"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 87 and Autoimmunity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kosaki Overgrowth Syndrome) AnnotationAssertion( "Characterized by tallness, with elongated lower segment, hands, and feet, with a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals also have hyperelastic and fragile skin, plus progressive neurologic deterioration. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616592"^^xsd:string) AnnotationAssertion( "KOGS"^^xsd:string) AnnotationAssertion( "skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002509"^^xsd:string) AnnotationAssertion(rdfs:label "Kosaki Overgrowth Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Focal Epilepsy with Speech Disorder and with or without Mental Retardation) AnnotationAssertion( "MIM:245570"^^xsd:string) AnnotationAssertion( "NCI:C168598"^^xsd:string) AnnotationAssertion( "FESD"^^xsd:string) AnnotationAssertion( "focal epilepsy with speech disorder and with or without impaired intellectual development"^^xsd:string) AnnotationAssertion( "focal epilepsy with speech disorder with or without mental retardation"^^xsd:string) AnnotationAssertion( "ADRESD"^^xsd:string) AnnotationAssertion( "APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME"^^xsd:string) AnnotationAssertion( "BECTS"^^xsd:string) AnnotationAssertion( "BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES"^^xsd:string) AnnotationAssertion( "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME"^^xsd:string) AnnotationAssertion( "CSWS"^^xsd:string) AnnotationAssertion( "CSWSS"^^xsd:string) AnnotationAssertion( "DYSTONIA, INTELLECTUAL DISABILITY AND LANGUAGE IMPAIRMENT"^^xsd:string) AnnotationAssertion( "LKS"^^xsd:string) AnnotationAssertion( "RESDAD"^^xsd:string) AnnotationAssertion( "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002510"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Epilepsy with Speech Disorder and with or without Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prolonged Bleeding Time, Brachydactyly, and Mental Retardation) AnnotationAssertion( "MESH:C564207"^^xsd:string) AnnotationAssertion( "RDO:0013246"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002511"^^xsd:string) AnnotationAssertion(rdfs:label "Prolonged Bleeding Time, Brachydactyly, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postherpetic Neuralgia) AnnotationAssertion(Annotation( "MESH:D051474"^^xsd:string) "Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists."^^xsd:string) AnnotationAssertion( "RDO:0007582"^^xsd:string) AnnotationAssertion( "MESH:D051474"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002512"^^xsd:string) AnnotationAssertion(rdfs:label "Postherpetic Neuralgia"^^xsd:string) SubClassOf( ) # Class: (Hypoproteinemia) AnnotationAssertion(Annotation( "MESH:D007019"^^xsd:string) "A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA."^^xsd:string) AnnotationAssertion( "MESH:D007019"^^xsd:string) AnnotationAssertion( "Hypoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002513"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoproteinemia"^^xsd:string) SubClassOf( ) # Class: (Neointima) AnnotationAssertion(Annotation( "MESH:D058426"^^xsd:string) "The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement."^^xsd:string) AnnotationAssertion( "MESH:D058426"^^xsd:string) AnnotationAssertion( "Neointima Formation"^^xsd:string) AnnotationAssertion( "Neointimas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002514"^^xsd:string) AnnotationAssertion(rdfs:label "Neointima"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rheumatoid Nodule) AnnotationAssertion(Annotation( "MESH:D012218"^^xsd:string) "Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes."^^xsd:string) AnnotationAssertion( "MIM:180350"^^xsd:string) AnnotationAssertion( "MESH:D012218"^^xsd:string) AnnotationAssertion( "Rheumatoid Nodules"^^xsd:string) AnnotationAssertion( "Rheumatoid Noduloses"^^xsd:string) AnnotationAssertion( "Rheumatoid Nodulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002515"^^xsd:string) AnnotationAssertion(rdfs:label "Rheumatoid Nodule"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS) AnnotationAssertion(Annotation( "MIM:619653"^^xsd:string) "This disease is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-11T17:48:42Z"^^xsd:string) AnnotationAssertion( "MIM:619653"^^xsd:string) AnnotationAssertion( "NEDSTO"^^xsd:string) AnnotationAssertion( "Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002516"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Early-Onset Sarcoidosis) AnnotationAssertion( "RDO:0012902"^^xsd:string) AnnotationAssertion( "MESH:C563714"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002517"^^xsd:string) AnnotationAssertion(rdfs:label "Early-Onset Sarcoidosis"^^xsd:string) SubClassOf( ) # Class: (Infectious Myxomatosis) AnnotationAssertion(Annotation( "MESH:D009234"^^xsd:string) "Diseases caused by MYXOMA VIRUS."^^xsd:string) AnnotationAssertion( "EFO:0007327"^^xsd:string) AnnotationAssertion( "MESH:D009234"^^xsd:string) AnnotationAssertion( "Infectious Myxomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002518"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Myxomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Polyposis with Multiple Exostoses) AnnotationAssertion( "MIM:175450"^^xsd:string) AnnotationAssertion( "MESH:C566776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002519"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Polyposis with Multiple Exostoses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acrorenal Mandibular Syndrome) AnnotationAssertion( "MIM:200980"^^xsd:string) AnnotationAssertion( "MESH:C535665"^^xsd:string) AnnotationAssertion( "Acro-renal-uterine-mandibular syndrome"^^xsd:string) AnnotationAssertion( "Acrorenal-Uterine-Mandibular Syndrome"^^xsd:string) AnnotationAssertion( "Split hand and split foot with mandibular hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002520"^^xsd:string) AnnotationAssertion(rdfs:label "Acrorenal Mandibular Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Left Ventricular Noncompaction 2) AnnotationAssertion( "RDO:0009323"^^xsd:string) AnnotationAssertion( "MIM:609470"^^xsd:string) AnnotationAssertion( "LVNC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002521"^^xsd:string) AnnotationAssertion(rdfs:label "Left Ventricular Noncompaction 2"^^xsd:string) SubClassOf( ) # Class: (Embolism) AnnotationAssertion(Annotation( "MESH:D004617"^^xsd:string) "Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream."^^xsd:string) AnnotationAssertion( "MESH:D004617"^^xsd:string) AnnotationAssertion( "Embolisms"^^xsd:string) AnnotationAssertion( "Embolus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002522"^^xsd:string) AnnotationAssertion(rdfs:label "Embolism"^^xsd:string) SubClassOf( ) # Class: (Uterine Perforation) AnnotationAssertion(Annotation( "MESH:D014595"^^xsd:string) "A hole or break through the wall of the UTERUS, usually made by the placement of an instrument or INTRAUTERINE DEVICES."^^xsd:string) AnnotationAssertion( "MESH:D014595"^^xsd:string) AnnotationAssertion( "RDO:0006795"^^xsd:string) AnnotationAssertion( "Uterine Perforations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002523"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Perforation"^^xsd:string) SubClassOf( ) # Class: (Asparagine Synthetase Deficiency) AnnotationAssertion( "MIM:615574"^^xsd:string) AnnotationAssertion( "NCI:C168586"^^xsd:string) AnnotationAssertion( "ASNS Deficiency"^^xsd:string) AnnotationAssertion( "ASNS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ASNSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002524"^^xsd:string) AnnotationAssertion(rdfs:label "Asparagine Synthetase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Eye Diseases) AnnotationAssertion(Annotation( "MESH:D015785"^^xsd:string) "Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder."^^xsd:string) AnnotationAssertion( "MESH:D015785"^^xsd:string) AnnotationAssertion( "Hereditary Eye Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002525"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Eye Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Febrile Ulceronecrotic Mucha-Habermann Disease) AnnotationAssertion( "MESH:C537077"^^xsd:string) AnnotationAssertion( "Ulceronecrotic Mucha-Habermann disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002526"^^xsd:string) AnnotationAssertion(rdfs:label "Febrile Ulceronecrotic Mucha-Habermann Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Edinburgh Malformation Syndrome) AnnotationAssertion( "MIM:129850"^^xsd:string) AnnotationAssertion( "MESH:C563051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002527"^^xsd:string) AnnotationAssertion(rdfs:label "Edinburgh Malformation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deletion 6q16 q21) AnnotationAssertion( "MESH:C538207"^^xsd:string) AnnotationAssertion( "RDO:0004150"^^xsd:string) AnnotationAssertion( "Monosomy 6q16 q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002528"^^xsd:string) AnnotationAssertion(rdfs:label "Deletion 6q16 q21"^^xsd:string) SubClassOf( ) # Class: (Bacteroidaceae Infections) AnnotationAssertion(Annotation( "MESH:D016866"^^xsd:string) "Infections with bacteria of the family BACTEROIDACEAE."^^xsd:string) AnnotationAssertion( "RDO:0004970"^^xsd:string) AnnotationAssertion( "EFO:1000872"^^xsd:string) AnnotationAssertion( "MESH:D016866"^^xsd:string) AnnotationAssertion( "Bacteroidaceae Infection"^^xsd:string) AnnotationAssertion( "Bacteroidaceae infectious disease"^^xsd:string) AnnotationAssertion( "commensal Bacteroidaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002529"^^xsd:string) AnnotationAssertion(rdfs:label "Bacteroidaceae Infections"^^xsd:string) SubClassOf( ) # Class: (pontocerebellar hypoplasia type 17) AnnotationAssertion(Annotation( "MIM:619909"^^xsd:string) "A severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Caused by homozygous mutation in the PRDM13 gene on chromosome 6q16."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-13T11:35:24Z"^^xsd:string) AnnotationAssertion( "PRDM13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619909"^^xsd:string) AnnotationAssertion( "PCH17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002530"^^xsd:string) AnnotationAssertion(rdfs:label "pontocerebellar hypoplasia type 17"^^xsd:string) SubClassOf( ) # Class: (Buschke-Lowenstein Tumor) AnnotationAssertion(Annotation( "MESH:D062688"^^xsd:string) "Exophytic tumor of the anogenital region associated with HPV infections. It becomes a large cauliflower-like, hyperkeratotic, verrucous mass that is locally destructive with little atypical cells. Histologically, tumor cells are broad rete peg structures that tend to invade deeper than CONDYLOMATA ACUMINATA."^^xsd:string) AnnotationAssertion( "MESH:D062688"^^xsd:string) AnnotationAssertion( "Anogenital Type Verrucous Carcinoma"^^xsd:string) AnnotationAssertion( "Buschke Löwenstein Tumor"^^xsd:string) AnnotationAssertion( "Giant Condyloma Acuminatum"^^xsd:string) AnnotationAssertion( "Giant Condyloma Acuminatums"^^xsd:string) AnnotationAssertion( "Giant Condyloma of Buschke and Lowenstein"^^xsd:string) AnnotationAssertion( "Giant Condyloma of Buschke and Löwenstein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002531"^^xsd:string) AnnotationAssertion(rdfs:label "Buschke-Lowenstein Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neonatal Hyperbilirubinemia) AnnotationAssertion(Annotation( "MESH:D051556"^^xsd:string) "Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin."^^xsd:string) AnnotationAssertion( "MESH:D051556"^^xsd:string) AnnotationAssertion( "During Infancies, Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "Hyperbilirubinemia During Infancy"^^xsd:string) AnnotationAssertion( "Neonatal Direct Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "Neonatal Indirect Hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002532"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Hyperbilirubinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rectum Carcinoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002915"^^xsd:string) AnnotationAssertion( "MONDO:0044937"^^xsd:string) AnnotationAssertion( "NCI:C134779"^^xsd:string) AnnotationAssertion( "rectal carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002533"^^xsd:string) AnnotationAssertion(rdfs:label "Rectum Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Acne Keloid) AnnotationAssertion(Annotation( "MESH:D000153"^^xsd:string) "A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men."^^xsd:string) AnnotationAssertion( "MESH:D000153"^^xsd:string) AnnotationAssertion( "Acne Keloidalis"^^xsd:string) AnnotationAssertion( "Acne Keloids"^^xsd:string) AnnotationAssertion( "Dermatitis Papillaris Capillitii"^^xsd:string) AnnotationAssertion( "Dermatitis Papillaris Capillitius"^^xsd:string) AnnotationAssertion( "Folliculitis Keloidalis"^^xsd:string) AnnotationAssertion( "Folliculitis Keloidalis Nuchae"^^xsd:string) AnnotationAssertion( "Keloidal Acne"^^xsd:string) AnnotationAssertion( "Keloidal Acnes"^^xsd:string) AnnotationAssertion( "Lichen Keloidalis Nuchae"^^xsd:string) AnnotationAssertion( "Nuchal Keloid Acne"^^xsd:string) AnnotationAssertion( "Nuchal Keloid Acnes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002534"^^xsd:string) AnnotationAssertion(rdfs:label "Acne Keloid"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Autosomal Recessive Congenital 1) AnnotationAssertion( "MESH:C565136"^^xsd:string) AnnotationAssertion( "RDO:0013863"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002535"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Autosomal Recessive Congenital 1"^^xsd:string) SubClassOf( ) # Class: (POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:618732"^^xsd:string) "A neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development ."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-17T10:59:46Z"^^xsd:string) AnnotationAssertion( "MIM:618732"^^xsd:string) AnnotationAssertion( "CSNK2B-RELATED INTELLECTUAL DISABILITY WITH OR WITHOUT EPILEPSY"^^xsd:string) AnnotationAssertion( "POBINDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002536"^^xsd:string) AnnotationAssertion(rdfs:label "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Air Embolism) AnnotationAssertion(Annotation( "MESH:D004618"^^xsd:string) "Blocking of a blood vessel by air bubbles that enter the circulatory system, usually after TRAUMA; surgical procedures, or changes in atmospheric pressure."^^xsd:string) AnnotationAssertion( "MESH:D004618"^^xsd:string) AnnotationAssertion( "Air Embolisms"^^xsd:string) AnnotationAssertion( "Gas Embolism"^^xsd:string) AnnotationAssertion( "Gas Embolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002537"^^xsd:string) AnnotationAssertion(rdfs:label "Air Embolism"^^xsd:string) SubClassOf( ) # Class: (Gay Feinmesser Cohen Syndrome) AnnotationAssertion( "MESH:C537676"^^xsd:string) AnnotationAssertion( "Laryngeal web, congenital heart disease and low stature"^^xsd:string) AnnotationAssertion( "Subglottic bar, congenital heart disease and low stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002538"^^xsd:string) AnnotationAssertion(rdfs:label "Gay Feinmesser Cohen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glomus Tympanicum Tumor) AnnotationAssertion(Annotation( "MESH:D043604"^^xsd:string) "A rare PARAGANGLIOMA involving the GLOMUS TYMPANICUM, a collection of chemoreceptor tissue adjacent to the TYMPANIC CAVITY. It can cause TINNITUS and conductive hearing loss (HEARING LOSS, CONDUCTIVE)."^^xsd:string) AnnotationAssertion( "MESH:D043604"^^xsd:string) AnnotationAssertion( "Glomus Tympanicum Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002539"^^xsd:string) AnnotationAssertion(rdfs:label "Glomus Tympanicum Tumor"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures) AnnotationAssertion(Annotation( "MIM:617710"^^xsd:string) "An autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "WARS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WARS2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:617710"^^xsd:string) AnnotationAssertion( "NEMMLAS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES"^^xsd:string) AnnotationAssertion( "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis and with or without seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002540"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Cataract 1) AnnotationAssertion( "MIM:156850"^^xsd:string) AnnotationAssertion( "MESH:C563582"^^xsd:string) AnnotationAssertion( "CATM"^^xsd:string) AnnotationAssertion( "MCOPCT1"^^xsd:string) AnnotationAssertion( "congenital cataract with microphthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002541"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Cataract 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hidrotic Ectodermal Dysplasia, Autosomal Recessive) AnnotationAssertion( "RDO:0014876"^^xsd:string) AnnotationAssertion( "MESH:C566553"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002542"^^xsd:string) AnnotationAssertion(rdfs:label "Hidrotic Ectodermal Dysplasia, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Myopathy with Abnormal Lipid Metabolism) AnnotationAssertion( "MIM:255100"^^xsd:string) AnnotationAssertion( "MESH:C562935"^^xsd:string) AnnotationAssertion( "RDO:0012437"^^xsd:string) AnnotationAssertion( "FLAD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "LSMFLAD"^^xsd:string) AnnotationAssertion( "Lipid Storage Myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002543"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy with Abnormal Lipid Metabolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chang Davidson Carlson Syndrome) AnnotationAssertion( "RDO:0004008"^^xsd:string) AnnotationAssertion( "MESH:C538075"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002544"^^xsd:string) AnnotationAssertion(rdfs:label "Chang Davidson Carlson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Odontochondrodysplasia 2 with Hearing Loss and Diabetes) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T14:01:07Z"^^xsd:string) AnnotationAssertion( "MIM:619269"^^xsd:string) AnnotationAssertion( "ODCD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002545"^^xsd:string) AnnotationAssertion(rdfs:label "Odontochondrodysplasia 2 with Hearing Loss and Diabetes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eosinophilic Granuloma) AnnotationAssertion(Annotation( "MESH:D004803"^^xsd:string) "The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS."^^xsd:string) AnnotationAssertion( "MESH:D004803"^^xsd:string) AnnotationAssertion( "NCI:C3016"^^xsd:string) AnnotationAssertion( "eosinophilic granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002546"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sitosterolemia 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-20T11:33:45Z"^^xsd:string) AnnotationAssertion( "ABCG8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:210250"^^xsd:string) AnnotationAssertion( "STSL1"^^xsd:string) AnnotationAssertion( "Mediterranean macrothrombocytopenia-stomatocytosis"^^xsd:string) AnnotationAssertion( "Mediterranean phytosterolemia macrothrombocytopenia/stomatocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002547"^^xsd:string) AnnotationAssertion(rdfs:label "Sitosterolemia 1"^^xsd:string) SubClassOf( ) # Class: (Lipoma of the Conjunctiva) AnnotationAssertion( "MIM:151700"^^xsd:string) AnnotationAssertion( "MESH:C563620"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002548"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoma of the Conjunctiva"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shock) AnnotationAssertion(Annotation( "MESH:D012769"^^xsd:string) "A pathological condition manifested by failure to perfuse or oxygenate vital organs."^^xsd:string) AnnotationAssertion( "MESH:D012769"^^xsd:string) AnnotationAssertion( "Circulatory Collapse"^^xsd:string) AnnotationAssertion( "Circulatory Failure"^^xsd:string) AnnotationAssertion( "Hypovolemic Shock"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002549"^^xsd:string) AnnotationAssertion(rdfs:label "Shock"^^xsd:string) SubClassOf( ) # Class: (Bites and Stings) AnnotationAssertion(Annotation( "MESH:D001733"^^xsd:string) "Injuries inflicted by the TEETH or poisoning caused by VENOMS of animals."^^xsd:string) AnnotationAssertion( "MESH:D001733"^^xsd:string) AnnotationAssertion( "Bite"^^xsd:string) AnnotationAssertion( "Sting"^^xsd:string) AnnotationAssertion( "bites"^^xsd:string) AnnotationAssertion( "stings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002550"^^xsd:string) AnnotationAssertion(rdfs:label "Bites and Stings"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 76) AnnotationAssertion(Annotation( "MIM:620084"^^xsd:string) "A disease characterized by male infertility due to oligoasthenoteratozoospermia. Caused by homozygous mutation in the CCDC34 gene on chromosome 11p14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-18T08:29:36Z"^^xsd:string) AnnotationAssertion( "MIM:620084"^^xsd:string) AnnotationAssertion( "SPGF76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002551"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 76"^^xsd:string) SubClassOf( ) # Class: (Cowden-Like Syndrome) AnnotationAssertion( "RDO:0015433"^^xsd:string) AnnotationAssertion( "MESH:C567337"^^xsd:string) AnnotationAssertion( "COWDEN SYNDROME 2"^^xsd:string) AnnotationAssertion( "CWS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002552"^^xsd:string) AnnotationAssertion(rdfs:label "Cowden-Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anaplastic Plasmacytoma) AnnotationAssertion( "MESH:C537514"^^xsd:string) AnnotationAssertion( "anaplastic skeletal plasmacytoma"^^xsd:string) AnnotationAssertion( "anaplastic solitary extramedullary plasmacytoma of the cecum"^^xsd:string) AnnotationAssertion( "extramedullary anaplastic plasmacytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002553"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplastic Plasmacytoma"^^xsd:string) SubClassOf( ) # Class: (Tachycardia) AnnotationAssertion(Annotation( "MESH:D013610"^^xsd:string) "Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia."^^xsd:string) AnnotationAssertion( "MESH:D013610"^^xsd:string) AnnotationAssertion( "Tachyarrhythmia"^^xsd:string) AnnotationAssertion( "Tachyarrhythmias"^^xsd:string) AnnotationAssertion( "Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002554"^^xsd:string) AnnotationAssertion(rdfs:label "Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Cardiac, Facial, and Digital Anomalies with Developmental Delay) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T10:19:34Z"^^xsd:string) AnnotationAssertion( "MIM:618164"^^xsd:string) AnnotationAssertion( "NCI:C179868"^^xsd:string) AnnotationAssertion( "CAFDADD"^^xsd:string) AnnotationAssertion( "TRAF7-ASSOCIATED HEART DEFECT-DIGITAL ANOMALIES-FACIAL DYSMORPHISM-MOTOR AND SPEECH DELAY SYNDROME"^^xsd:string) AnnotationAssertion( "TRAF7-RELATED DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES, AND DYSMORPHIC FEATURES"^^xsd:string) AnnotationAssertion( "TRAF7-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "TRAF7-RELATED SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002555"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac, Facial, and Digital Anomalies with Developmental Delay"^^xsd:string) SubClassOf( ) # Class: (villitis) AnnotationAssertion(Annotation( "EFO:0003110"^^xsd:string) "This is an Inflammatory process that involves the chorionic villi of the placenta."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-18T13:18:38Z"^^xsd:string) AnnotationAssertion( "EFO:0003110"^^xsd:string) AnnotationAssertion( "inflammation of chorionic villi"^^xsd:string) AnnotationAssertion( "placental villitis"^^xsd:string) AnnotationAssertion( "villositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002556"^^xsd:string) AnnotationAssertion(rdfs:label "villitis"^^xsd:string) SubClassOf( ) # Class: (Inherited Blood Coagulation Disease) AnnotationAssertion( "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-23T17:57:05Z"^^xsd:string) AnnotationAssertion( "DOID:2214"^^xsd:string) AnnotationAssertion( "MESH:D025861"^^xsd:string) AnnotationAssertion( "MIM:PS277450"^^xsd:string) AnnotationAssertion( "ORDO:98429"^^xsd:string) AnnotationAssertion( "hereditary blood coagulation disorders"^^xsd:string) AnnotationAssertion( "hereditary coagulation disorder"^^xsd:string) AnnotationAssertion( "hereditary coagulation disorders"^^xsd:string) AnnotationAssertion( "inherited blood coagulation diseases"^^xsd:string) AnnotationAssertion( "inherited blood coagulation disorders"^^xsd:string) AnnotationAssertion( "inherited coagulation disorder"^^xsd:string) AnnotationAssertion( "inherited coagulation disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002557"^^xsd:string) AnnotationAssertion(rdfs:label "Inherited Blood Coagulation Disease"^^xsd:string) SubClassOf( ) # Class: (Acute Intermittent Porphyria, Nonerythroid Variant) AnnotationAssertion( "MESH:C566769"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002558"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Intermittent Porphyria, Nonerythroid Variant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Penetrating Eye Injuries) AnnotationAssertion(Annotation( "MESH:D015807"^^xsd:string) "Deeply perforating or puncturing type intraocular injuries."^^xsd:string) AnnotationAssertion( "EFO:1001323"^^xsd:string) AnnotationAssertion( "MESH:D015807"^^xsd:string) AnnotationAssertion( "Penetrating Eye Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002560"^^xsd:string) AnnotationAssertion(rdfs:label "Penetrating Eye Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sandhaus Ben-Ami Syndrome) AnnotationAssertion( "MESH:C537233"^^xsd:string) AnnotationAssertion( "Patella hypoplasia skeletal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002561"^^xsd:string) AnnotationAssertion(rdfs:label "Sandhaus Ben-Ami Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Maccario Mena Weir Syndrome) AnnotationAssertion( "RDO:0003224"^^xsd:string) AnnotationAssertion( "MESH:C537386"^^xsd:string) AnnotationAssertion( "neuroaxonal dystrophy, renal tubular acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002562"^^xsd:string) AnnotationAssertion(rdfs:label "Maccario Mena Weir Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gait Ataxia) AnnotationAssertion(Annotation( "MESH:D020234"^^xsd:string) "Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES."^^xsd:string) AnnotationAssertion( "MESH:D020234"^^xsd:string) AnnotationAssertion( "Ataxia of Gait"^^xsd:string) AnnotationAssertion( "Cerebellar Gait"^^xsd:string) AnnotationAssertion( "Cerebellar Gait Ataxia"^^xsd:string) AnnotationAssertion( "Cerebellar Gait Ataxias"^^xsd:string) AnnotationAssertion( "Cerebellar Gaits"^^xsd:string) AnnotationAssertion( "Gait Ataxias"^^xsd:string) AnnotationAssertion( "Sensory Gait Ataxia"^^xsd:string) AnnotationAssertion( "Sensory Gait Ataxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002563"^^xsd:string) AnnotationAssertion(rdfs:label "Gait Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arteritis) AnnotationAssertion(Annotation( "MESH:D001167"^^xsd:string) "INFLAMMATION of any ARTERIES."^^xsd:string) AnnotationAssertion( "EFO:0009011"^^xsd:string) AnnotationAssertion( "MESH:D001167"^^xsd:string) AnnotationAssertion( "Arterial Inflammation"^^xsd:string) AnnotationAssertion( "Arteritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002564"^^xsd:string) AnnotationAssertion(rdfs:label "Arteritis"^^xsd:string) SubClassOf( ) # Class: (Partial Epilepsy with Pericentral Spikes) AnnotationAssertion( "MIM:607221"^^xsd:string) AnnotationAssertion( "MESH:C564605"^^xsd:string) AnnotationAssertion( "EPPS"^^xsd:string) AnnotationAssertion( "PEPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002565"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Epilepsy with Pericentral Spikes"^^xsd:string) SubClassOf( ) # Class: (Gastric Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the stomach, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001728"^^xsd:string) AnnotationAssertion( "gastric ischemia/reperfusion injury"^^xsd:string) AnnotationAssertion( "stomach ischemia/reperfusion injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002566"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-31T12:25:19Z"^^xsd:string) AnnotationAssertion( "MIM:251280"^^xsd:string) AnnotationAssertion( "DMJDS1"^^xsd:string) AnnotationAssertion( "MISSBC"^^xsd:string) AnnotationAssertion( "microcephaly, seizures, spasticity, and brain calcification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002568"^^xsd:string) AnnotationAssertion(rdfs:label "Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Overweight) AnnotationAssertion(Annotation( "MESH:D050177"^^xsd:string) "A status with BODY WEIGHT that is above certain standard of acceptable or desirable weight. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal 'over fat'."^^xsd:string) AnnotationAssertion( "MESH:D050177"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002569"^^xsd:string) AnnotationAssertion(rdfs:label "Overweight"^^xsd:string) SubClassOf( ) # Class: (Mirror Movements 1) AnnotationAssertion( "MIM:157600"^^xsd:string) AnnotationAssertion( "BIMANUAL SYNERGIA"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL SPLIT BRAIN SYNDROME"^^xsd:string) AnnotationAssertion( "MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "MRMV1"^^xsd:string) AnnotationAssertion( "congenital mirror movements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002570"^^xsd:string) AnnotationAssertion(rdfs:label "Mirror Movements 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 7) AnnotationAssertion( "An autosomal dominant inflammatory disorder characterized by severe neurologic impairment. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:615846"^^xsd:string) AnnotationAssertion( "NCI:C168585"^^xsd:string) AnnotationAssertion( "AGS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002571"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Meyenburg-Altherr-Uehlinger Syndrome) AnnotationAssertion( "MESH:C537574"^^xsd:string) AnnotationAssertion( "RDO:0003438"^^xsd:string) AnnotationAssertion( "Ashkenazi syndrome"^^xsd:string) AnnotationAssertion( "Atrophic polychondritis, cartilagenous arthritic deafness syndrome"^^xsd:string) AnnotationAssertion( "Jaksch Wartenhorst's syndrome"^^xsd:string) AnnotationAssertion( "Jaksch' syndrome"^^xsd:string) AnnotationAssertion( "Von Jaksch Wartenhorst's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002572"^^xsd:string) AnnotationAssertion(rdfs:label "Meyenburg-Altherr-Uehlinger Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nerve Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D009380"^^xsd:string) "Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves."^^xsd:string) AnnotationAssertion( "RDO:0006101"^^xsd:string) AnnotationAssertion( "MESH:D009380"^^xsd:string) AnnotationAssertion( "Nerve Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "Nervous Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "Nervous Tissue Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002573"^^xsd:string) AnnotationAssertion(rdfs:label "Nerve Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 3) AnnotationAssertion( "MIM:273900"^^xsd:string) AnnotationAssertion( "MESH:C567487"^^xsd:string) AnnotationAssertion( "THC3"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, Autosomal Recessive, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002574"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 3"^^xsd:string) SubClassOf( ) # Class: (Myeloperoxidase Deficiency) AnnotationAssertion( "MIM:254600"^^xsd:string) AnnotationAssertion( "OMIA:002028"^^xsd:string) AnnotationAssertion( "MESH:C562864"^^xsd:string) AnnotationAssertion( "MPO deficiency"^^xsd:string) AnnotationAssertion( "MPOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002575"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloperoxidase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Egg-Shaped Pupil) AnnotationAssertion( "MIM:178800"^^xsd:string) AnnotationAssertion( "MESH:C566731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002576"^^xsd:string) AnnotationAssertion(rdfs:label "Egg-Shaped Pupil"^^xsd:string) SubClassOf( ) # Class: (Halo Nevus) AnnotationAssertion(Annotation( "MESH:D055882"^^xsd:string) "A benign skin lesion characterized by a zone of depigmentation surrounding the nevus."^^xsd:string) AnnotationAssertion( "MIM:234300"^^xsd:string) AnnotationAssertion( "EFO:1000958"^^xsd:string) AnnotationAssertion( "MESH:D055882"^^xsd:string) AnnotationAssertion( "Halo Nevi"^^xsd:string) AnnotationAssertion( "Leukoderma Acquisitum Centrifugum of Sutton"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002577"^^xsd:string) AnnotationAssertion(rdfs:label "Halo Nevus"^^xsd:string) SubClassOf( ) # Class: (Equine Encephalomyelitis) AnnotationAssertion(Annotation( "MESH:D004683"^^xsd:string) "A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10)"^^xsd:string) AnnotationAssertion( "MESH:D004683"^^xsd:string) AnnotationAssertion( "Equine Encephalitis"^^xsd:string) AnnotationAssertion( "Equine Encephalomyelitis Viral Infections"^^xsd:string) AnnotationAssertion( "Equine Encephalomyelitis Virus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002578"^^xsd:string) AnnotationAssertion(rdfs:label "Equine Encephalomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Palmoplantar Keratoderma, Vorner Type) AnnotationAssertion( "RDO:0012079"^^xsd:string) AnnotationAssertion( "MESH:C567914"^^xsd:string) AnnotationAssertion( "Epidermolytic Palmoplantar Keratoderma Vorner Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002579"^^xsd:string) AnnotationAssertion(rdfs:label "Palmoplantar Keratoderma, Vorner Type"^^xsd:string) SubClassOf( ) # Class: (Metatarsus Varus) AnnotationAssertion(Annotation( "MESH:D000070592"^^xsd:string) "A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel."^^xsd:string) AnnotationAssertion( "MESH:D000070592"^^xsd:string) AnnotationAssertion( "RDO:0016059"^^xsd:string) AnnotationAssertion( "In Toeing"^^xsd:string) AnnotationAssertion( "Metatarsal Varus"^^xsd:string) AnnotationAssertion( "Metatarsus Adductovarus"^^xsd:string) AnnotationAssertion( "Metatarsus Adductus"^^xsd:string) AnnotationAssertion( "Pigeon Toed"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002580"^^xsd:string) AnnotationAssertion(rdfs:label "Metatarsus Varus"^^xsd:string) SubClassOf( ) # Class: (Acrocephalopolydactylous Dysplasia) AnnotationAssertion( "MIM:200995"^^xsd:string) AnnotationAssertion( "MESH:C573722"^^xsd:string) AnnotationAssertion( "Elejalde syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002581"^^xsd:string) AnnotationAssertion(rdfs:label "Acrocephalopolydactylous Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 23) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T13:27:53Z"^^xsd:string) AnnotationAssertion( "MIM:617985"^^xsd:string) AnnotationAssertion( "MCPH23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002582"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 23"^^xsd:string) SubClassOf( ) # Class: (Camptobrachydactyly) AnnotationAssertion( "MIM:114150"^^xsd:string) AnnotationAssertion( "MESH:C537967"^^xsd:string) AnnotationAssertion( "Short foot-brachydactyly of toes, camptodactyly , brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002583"^^xsd:string) AnnotationAssertion(rdfs:label "Camptobrachydactyly"^^xsd:string) SubClassOf( ) # Class: (Benign Essential Blepharospasm) AnnotationAssertion( "MIM:606798"^^xsd:string) AnnotationAssertion( "MESH:C535428"^^xsd:string) AnnotationAssertion( "RDO:0000534"^^xsd:string) AnnotationAssertion( "Essential Blepharospasm"^^xsd:string) AnnotationAssertion( "Eyelid Twitching"^^xsd:string) AnnotationAssertion( "Primary Blepharospasm"^^xsd:string) AnnotationAssertion( "Spasm of Eyelids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002584"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Essential Blepharospasm"^^xsd:string) SubClassOf( ) # Class: (Opticocochleodentate Degeneration) AnnotationAssertion( "MIM:258700"^^xsd:string) AnnotationAssertion( "MESH:C563002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002585"^^xsd:string) AnnotationAssertion(rdfs:label "Opticocochleodentate Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postcataract Aphakia) AnnotationAssertion(Annotation( "MESH:D001036"^^xsd:string) "Absence of the crystalline lens resulting from cataract extraction."^^xsd:string) AnnotationAssertion( "RDO:0004886"^^xsd:string) AnnotationAssertion( "MESH:D001036"^^xsd:string) AnnotationAssertion( "Postcataract Aphakias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002586"^^xsd:string) AnnotationAssertion(rdfs:label "Postcataract Aphakia"^^xsd:string) SubClassOf( ) # Class: (Silver-Russell Syndrome 4) AnnotationAssertion(Annotation( "MIM:618907"^^xsd:string) "Silver-Russell syndrome caused by heterozygous mutation in the PLAG1 gene on chromosome 8q12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T13:55:11Z"^^xsd:string) AnnotationAssertion( "PLAG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618907"^^xsd:string) AnnotationAssertion( "SRS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002587"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Cardiac Septal Defects with Coarctation of the Aorta) AnnotationAssertion( "MIM:212090"^^xsd:string) AnnotationAssertion( "MESH:C565883"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002588"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Septal Defects with Coarctation of the Aorta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Fractures) AnnotationAssertion(Annotation( "MESH:D050723"^^xsd:string) "Breaks in bones."^^xsd:string) AnnotationAssertion( "EFO:0003931"^^xsd:string) AnnotationAssertion( "EFO:0009618"^^xsd:string) AnnotationAssertion( "EFO:0009622"^^xsd:string) AnnotationAssertion( "MESH:D050723"^^xsd:string) AnnotationAssertion( "Bone Fracture"^^xsd:string) AnnotationAssertion( "Broken Bone"^^xsd:string) AnnotationAssertion( "Broken Bones"^^xsd:string) AnnotationAssertion( "Recurrent fractures"^^xsd:string) AnnotationAssertion( "Spiral Fracture"^^xsd:string) AnnotationAssertion( "Spiral Fractures"^^xsd:string) AnnotationAssertion( "Torsion Fracture"^^xsd:string) AnnotationAssertion( "Torsion Fractures"^^xsd:string) AnnotationAssertion( "foot fracture"^^xsd:string) AnnotationAssertion( "fracture of pelvis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002589"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Fractures"^^xsd:string) SubClassOf( ) # Class: (Porencephaly Cerebellar Hypoplasia Malformations) AnnotationAssertion( "MIM:601322"^^xsd:string) AnnotationAssertion( "MESH:C536336"^^xsd:string) AnnotationAssertion( "Porencephaly, cerebellar hypoplasia, and internal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002590"^^xsd:string) AnnotationAssertion(rdfs:label "Porencephaly Cerebellar Hypoplasia Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Splenosis) AnnotationAssertion(Annotation( "MESH:D017890"^^xsd:string) "The spontaneous transplantation of splenic tissue to unusual sites after open splenic trauma, e.g., after automobile accidents, gunshot or stab wounds. The splenic pulp implants appear as red-blue nodules on the peritoneum, omentum, and mesentery, morphologically similar to multifocal pelvic endometriosis. (Segen, Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "MESH:D017890"^^xsd:string) AnnotationAssertion( "Splenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002591"^^xsd:string) AnnotationAssertion(rdfs:label "Splenosis"^^xsd:string) SubClassOf( ) # Class: (refractory celiac disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/refractory-celiac-disease/"^^xsd:string) "This is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-21T18:24:17Z"^^xsd:string) AnnotationAssertion( "EFO:0009266"^^xsd:string) AnnotationAssertion( "intractable celiac sprue"^^xsd:string) AnnotationAssertion( "refractory CD"^^xsd:string) AnnotationAssertion( "refractory celiac disease"^^xsd:string) AnnotationAssertion( "unresponsive celiac disease"^^xsd:string) AnnotationAssertion( "type I refractory sprue"^^xsd:string) AnnotationAssertion( "type II refractory sprue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002592"^^xsd:string) AnnotationAssertion(rdfs:label "refractory celiac disease"^^xsd:string) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 8) AnnotationAssertion( "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616287"^^xsd:string) AnnotationAssertion( "LCCS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002593"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 8"^^xsd:string) SubClassOf( ) # Class: (High Hyperopia) AnnotationAssertion( "MIM:238950"^^xsd:string) AnnotationAssertion( "MESH:C565497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002594"^^xsd:string) AnnotationAssertion(rdfs:label "High Hyperopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619854"^^xsd:string) "This disease is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-30T10:55:48Z"^^xsd:string) AnnotationAssertion( "MIM:619854"^^xsd:string) AnnotationAssertion( "NEDHISB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002595"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly) AnnotationAssertion( "NBAS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614800"^^xsd:string) AnnotationAssertion( "RDO:9001073"^^xsd:string) AnnotationAssertion( "SOPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002596"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (2-Methylacetoacetyl CoA Thiolase Deficiency) AnnotationAssertion( "MESH:C535307"^^xsd:string) AnnotationAssertion( "RDO:0000347"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002597"^^xsd:string) AnnotationAssertion(rdfs:label "2-Methylacetoacetyl CoA Thiolase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraparesis) AnnotationAssertion(Annotation( "MESH:D020336"^^xsd:string) "Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways."^^xsd:string) AnnotationAssertion( "MESH:D020336"^^xsd:string) AnnotationAssertion( "Spastic Lower Extremity Weakness"^^xsd:string) AnnotationAssertion( "Spastic Parapareses"^^xsd:string) AnnotationAssertion( "PROGRESSIVE SPASTIC PARAPARESIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002598"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraparesis"^^xsd:string) SubClassOf( ) # Class: (Basal Ganglia Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020145"^^xsd:string) "Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS."^^xsd:string) AnnotationAssertion( "MESH:D020145"^^xsd:string) AnnotationAssertion( "RDO:0007316"^^xsd:string) AnnotationAssertion( "Basal Ganglionic Hemorrhage"^^xsd:string) AnnotationAssertion( "Hematoma, Basal Ganglia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002599"^^xsd:string) AnnotationAssertion(rdfs:label "Basal Ganglia Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hydrocephalus with Cerebellar Agenesis) AnnotationAssertion( "MIM:307010"^^xsd:string) AnnotationAssertion( "MESH:C564407"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002600"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrocephalus with Cerebellar Agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Otofaciocervical Syndrome 1) AnnotationAssertion( "MIM:166780"^^xsd:string) AnnotationAssertion( "MESH:C563481"^^xsd:string) AnnotationAssertion( "OFC"^^xsd:string) AnnotationAssertion( "OFC1"^^xsd:string) AnnotationAssertion( "OTFCS"^^xsd:string) AnnotationAssertion( "Ofc Syndrome"^^xsd:string) AnnotationAssertion( "otofaciocervical syndrome"^^xsd:string) AnnotationAssertion( "otofaciocervical syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002601"^^xsd:string) AnnotationAssertion(rdfs:label "Otofaciocervical Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Chromosome 13p Duplication) AnnotationAssertion( "MESH:C535450"^^xsd:string) AnnotationAssertion( "Chromosome 13p, trisomy"^^xsd:string) AnnotationAssertion( "Duplication 13p"^^xsd:string) AnnotationAssertion( "Trisomy 13p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002602"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13p Duplication"^^xsd:string) SubClassOf( ) # Class: (Terminal Transverse Defects of Arm) AnnotationAssertion( "MESH:C565681"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002603"^^xsd:string) AnnotationAssertion(rdfs:label "Terminal Transverse Defects of Arm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reducing Body Myopathies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-18T19:29:47Z"^^xsd:string) AnnotationAssertion( "GARD:12162"^^xsd:string) AnnotationAssertion( "reducing body myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002604"^^xsd:string) AnnotationAssertion(rdfs:label "Reducing Body Myopathies"^^xsd:string) SubClassOf( ) # Class: (Delayed Hypersensitivity) AnnotationAssertion(Annotation( "MESH:D006968"^^xsd:string) "An increased reactivity to specific antigens mediated not by antibodies but by cells."^^xsd:string) AnnotationAssertion( "RDO:0002568"^^xsd:string) AnnotationAssertion( "MESH:D006968"^^xsd:string) AnnotationAssertion( "Delayed Hypersensitivities"^^xsd:string) AnnotationAssertion( "Tuberculin Type Hypersensitivity"^^xsd:string) AnnotationAssertion( "Tuberculin-Type Hypersensitivities"^^xsd:string) AnnotationAssertion( "Type IV Hypersensitivities"^^xsd:string) AnnotationAssertion( "Type IV Hypersensitivity"^^xsd:string) AnnotationAssertion( "REDUCED DELAYED HYPERSENSITIVITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002605"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Hypersensitivity"^^xsd:string) SubClassOf( ) # Class: (Mycotoxicosis) AnnotationAssertion(Annotation( "MESH:D015651"^^xsd:string) "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)."^^xsd:string) AnnotationAssertion( "MESH:D015651"^^xsd:string) AnnotationAssertion( "Fungus Poisoning"^^xsd:string) AnnotationAssertion( "Fungus Poisonings"^^xsd:string) AnnotationAssertion( "Mycotoxicoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002606"^^xsd:string) AnnotationAssertion(rdfs:label "Mycotoxicosis"^^xsd:string) SubClassOf( ) # Class: (Serotonin Syndrome) AnnotationAssertion(Annotation( "MESH:D020230"^^xsd:string) "An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor."^^xsd:string) AnnotationAssertion( "EFO:1001842"^^xsd:string) AnnotationAssertion( "MESH:D020230"^^xsd:string) AnnotationAssertion( "Serotonin Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002607"^^xsd:string) AnnotationAssertion(rdfs:label "Serotonin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Curvatures) AnnotationAssertion(Annotation( "MESH:D013121"^^xsd:string) "Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS)."^^xsd:string) AnnotationAssertion( "MESH:D013121"^^xsd:string) AnnotationAssertion( "Spinal Curvature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002608"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Curvatures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 85) AnnotationAssertion(Annotation( "MIM:620227"^^xsd:string) "Nonsyndromic progressive sensorineural hearing loss, with onset in childhood or young adulthood. Caused by heterozygous mutation in the USP48 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-30T10:11:14Z"^^xsd:string) AnnotationAssertion( "MIM:620227"^^xsd:string) AnnotationAssertion( "DFNA85"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 85"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002609"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 85"^^xsd:string) SubClassOf( ) # Class: (Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type) AnnotationAssertion( "MESH:C563527"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002610"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pelvic Dysplasia Arthrogryposis of Lower Limbs) AnnotationAssertion( "MIM:602484"^^xsd:string) AnnotationAssertion( "MESH:C535548"^^xsd:string) AnnotationAssertion( "Pelvic hypoplasia with arthrogryposis of lower limbs"^^xsd:string) AnnotationAssertion( "Pelvic hypoplasia with lower limb arthrogryposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002612"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Dysplasia Arthrogryposis of Lower Limbs"^^xsd:string) SubClassOf( ) # Class: (Al Gazali Khidr Prem Chandran Syndrome) AnnotationAssertion( "MESH:C535616"^^xsd:string) AnnotationAssertion( "Cherubism, optic atrophy and short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002613"^^xsd:string) AnnotationAssertion(rdfs:label "Al Gazali Khidr Prem Chandran Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acute Lymphoblastic Leukemia, with Lymphomatous Features) AnnotationAssertion( "MIM:247640"^^xsd:string) AnnotationAssertion( "RDO:0014067"^^xsd:string) AnnotationAssertion( "MESH:C565429"^^xsd:string) AnnotationAssertion( "LALL"^^xsd:string) AnnotationAssertion( "Lymphomatous ALL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002614"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Lymphoblastic Leukemia, with Lymphomatous Features"^^xsd:string) SubClassOf( ) # Class: (Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome) AnnotationAssertion( "MIM:607658"^^xsd:string) AnnotationAssertion( "MESH:C564357"^^xsd:string) AnnotationAssertion( "HOPP syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002615"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2) AnnotationAssertion(Annotation( "MIM:620425"^^xsd:string) "An autosomal recessive syndromic disorder characterized by onset of this constellation of features in infancy, resulting in death in early childhood. Caused by homozygous mutation in the NOP10 gene on chromosome 15q14."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:30:10Z"^^xsd:string) AnnotationAssertion( "MIM:620425"^^xsd:string) AnnotationAssertion( "CHINE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002616"^^xsd:string) AnnotationAssertion(rdfs:label "Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Brachytelephalangy Characteristic Facies Kallmann) AnnotationAssertion( "MIM:113480"^^xsd:string) AnnotationAssertion( "MESH:C537101"^^xsd:string) AnnotationAssertion( "Brachytelephalangy with Characteristic Facies and Kallmann Syndrome"^^xsd:string) AnnotationAssertion( "Characteristic craniofacial appearance and brachytelephalangy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002617"^^xsd:string) AnnotationAssertion(rdfs:label "Brachytelephalangy Characteristic Facies Kallmann"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Neurocardiogenic Syncope) AnnotationAssertion( "MIM:609289"^^xsd:string) AnnotationAssertion( "MESH:C536849"^^xsd:string) AnnotationAssertion( "Familial vasovagal syncope"^^xsd:string) AnnotationAssertion( "VVS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002618"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Neurocardiogenic Syncope"^^xsd:string) SubClassOf( ) # Class: (Complicated X-Linked Ichthyosis) AnnotationAssertion( "RDO:0015510"^^xsd:string) AnnotationAssertion( "MESH:C567443"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002619"^^xsd:string) AnnotationAssertion(rdfs:label "Complicated X-Linked Ichthyosis"^^xsd:string) SubClassOf( ) # Class: (SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION) AnnotationAssertion( "In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616541"^^xsd:string) AnnotationAssertion( "RDO:9001550"^^xsd:string) AnnotationAssertion( "SSMED"^^xsd:string) AnnotationAssertion( "XRCC4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002620"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Shellfish Poisoning) AnnotationAssertion(Annotation( "MESH:D057096"^^xsd:string) "Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved."^^xsd:string) AnnotationAssertion( "MESH:D057096"^^xsd:string) AnnotationAssertion( "Amnesic Shellfish Poisoning"^^xsd:string) AnnotationAssertion( "Amnesic Shellfish Poisonings"^^xsd:string) AnnotationAssertion( "Diarrhetic Shellfish Poisoning"^^xsd:string) AnnotationAssertion( "Diarrhetic Shellfish Poisonings"^^xsd:string) AnnotationAssertion( "Neurotoxic Shellfish Poisoning"^^xsd:string) AnnotationAssertion( "Neurotoxic Shellfish Poisonings"^^xsd:string) AnnotationAssertion( "Paralytic Shellfish Poisoning"^^xsd:string) AnnotationAssertion( "Paralytic Shellfish Poisonings"^^xsd:string) AnnotationAssertion( "Shellfish Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002622"^^xsd:string) AnnotationAssertion(rdfs:label "Shellfish Poisoning"^^xsd:string) SubClassOf( ) # Class: (HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE) AnnotationAssertion(Annotation( "MIM:301110"^^xsd:string) "This disease is an X-linked disorder with variable onset and manifestations. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. Treatment with C5 inhibitors results in improvement of renal function."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-08-25T08:40:22Z"^^xsd:string) AnnotationAssertion( "MIM:301110"^^xsd:string) AnnotationAssertion( "AHUS8"^^xsd:string) AnnotationAssertion( "atypical hemolytic uremic syndrome-8 with rhizomelic short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002623"^^xsd:string) AnnotationAssertion(rdfs:label "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE"^^xsd:string) SubClassOf( ) # Class: (Aerobic Actinomyces Infection) AnnotationAssertion( "GARD:9779"^^xsd:string) AnnotationAssertion( "MESH:C538054"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002624"^^xsd:string) AnnotationAssertion(rdfs:label "Aerobic Actinomyces Infection"^^xsd:string) SubClassOf( ) # Class: (Complement Component 4, Partial Deficiency Of) AnnotationAssertion( "MIM:120790"^^xsd:string) AnnotationAssertion( "MESH:C565168"^^xsd:string) AnnotationAssertion( "partial deficiency of complement component 4 due to dysfunctional c1 inhibitor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002625"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Component 4, Partial Deficiency Of"^^xsd:string) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 8) AnnotationAssertion(Annotation( "MIM:619662"^^xsd:string) "An autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferse presenting in the infantile period. Caused by homozygous or compound heterozygous mutation in the KIF12 gene on chromosome 9q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-22T09:33:37Z"^^xsd:string) AnnotationAssertion( "MIM:619662"^^xsd:string) AnnotationAssertion( "PFIC8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002626"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 8"^^xsd:string) SubClassOf( ) # Class: (Familial Isolated Hypoparathyroidism 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-15T11:18:42Z"^^xsd:string) AnnotationAssertion( "MIM:618883"^^xsd:string) AnnotationAssertion( "FIH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002627"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Isolated Hypoparathyroidism 2"^^xsd:string) SubClassOf( ) # Class: (Complete Absence of Bile and Pancreatic Ducts) AnnotationAssertion( "MIM:608063"^^xsd:string) AnnotationAssertion( "MESH:C564298"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002628"^^xsd:string) AnnotationAssertion(rdfs:label "Complete Absence of Bile and Pancreatic Ducts"^^xsd:string) SubClassOf( ) # Class: (Cubital Tunnel Syndrome) AnnotationAssertion(Annotation( "MESH:D020430"^^xsd:string) "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)"^^xsd:string) AnnotationAssertion( "EFO:1001301"^^xsd:string) AnnotationAssertion( "MESH:D020430"^^xsd:string) AnnotationAssertion( "RDO:0007410"^^xsd:string) AnnotationAssertion( "Cubital Tunnel Syndromes"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Compression, Cubital Tunnel"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Entrapment, Elbow"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002629"^^xsd:string) AnnotationAssertion(rdfs:label "Cubital Tunnel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa, Lethal Acantholytic) AnnotationAssertion( "MIM:609638"^^xsd:string) AnnotationAssertion( "MESH:C535493"^^xsd:string) AnnotationAssertion( "EBLA"^^xsd:string) AnnotationAssertion( "LAEB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002630"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa, Lethal Acantholytic"^^xsd:string) SubClassOf( ) # Class: (Vitelliform Macular Dystrophy 1) AnnotationAssertion( "MIM:153840"^^xsd:string) AnnotationAssertion( "MESH:C537832"^^xsd:string) AnnotationAssertion( "VMD1"^^xsd:string) AnnotationAssertion( "atypical vitelliform macular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002631"^^xsd:string) AnnotationAssertion(rdfs:label "Vitelliform Macular Dystrophy 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Premature Obstetric Labor) AnnotationAssertion(Annotation( "MESH:D007752"^^xsd:string) "Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE)."^^xsd:string) AnnotationAssertion( "MESH:D007752"^^xsd:string) AnnotationAssertion( "Premature Labor"^^xsd:string) AnnotationAssertion( "Preterm Labor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002633"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Obstetric Labor"^^xsd:string) SubClassOf( ) # Class: (DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619877"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-13T15:16:29Z"^^xsd:string) AnnotationAssertion( "MIM:619877"^^xsd:string) AnnotationAssertion( "DENNED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002634"^^xsd:string) AnnotationAssertion(rdfs:label "DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Brachymesomelia Renal Syndrome) AnnotationAssertion( "MIM:113470"^^xsd:string) AnnotationAssertion( "MESH:C537096"^^xsd:string) AnnotationAssertion( "Langer Nishino Yamaguchi syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002635"^^xsd:string) AnnotationAssertion(rdfs:label "Brachymesomelia Renal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Splenoportal Vascular Anomalies) AnnotationAssertion( "MIM:271500"^^xsd:string) AnnotationAssertion( "MESH:C562761"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002637"^^xsd:string) AnnotationAssertion(rdfs:label "Splenoportal Vascular Anomalies"^^xsd:string) SubClassOf( ) # Class: (Poor Metabolism of Proguanil) AnnotationAssertion( "MESH:C563704"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002638"^^xsd:string) AnnotationAssertion(rdfs:label "Poor Metabolism of Proguanil"^^xsd:string) SubClassOf( ) # Class: (Woods Black Norbury Syndrome) AnnotationAssertion( "MIM:300076"^^xsd:string) AnnotationAssertion( "MESH:C536743"^^xsd:string) AnnotationAssertion( "Immunoneurologic Disorder, X-Linked"^^xsd:string) AnnotationAssertion( "Neonatal death immune deficiency"^^xsd:string) AnnotationAssertion( "X-linked immunoneurological disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002639"^^xsd:string) AnnotationAssertion(rdfs:label "Woods Black Norbury Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME) AnnotationAssertion(Annotation( "ORPHA:141189"^^xsd:string) "This is a group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-06-06T08:49:45Z"^^xsd:string) AnnotationAssertion( "MONDO:0015405"^^xsd:string) AnnotationAssertion( "CAMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002640"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Marrow Neoplasms) AnnotationAssertion(Annotation( "MESH:D019046"^^xsd:string) "Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic."^^xsd:string) AnnotationAssertion( "RDO:0007250"^^xsd:string) AnnotationAssertion( "MESH:D019046"^^xsd:string) AnnotationAssertion( "bone marrow neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35370"^^xsd:string) "bone marrow tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002641"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isolated Microphthalmia with Coloboma) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS300345"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002642"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Long QT Syndrome 3/6) AnnotationAssertion( "MESH:C566334"^^xsd:string) AnnotationAssertion( "LONG QT SYNDROME 3/6, DIGENIC"^^xsd:string) AnnotationAssertion( "LQT3/6, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002643"^^xsd:string) AnnotationAssertion(rdfs:label "Long QT Syndrome 3/6"^^xsd:string) SubClassOf( ) # Class: (Premature Aging) AnnotationAssertion(Annotation( "MESH:D019588"^^xsd:string) "Changes in the organism associated with senescence, occurring at an accelerated rate."^^xsd:string) AnnotationAssertion( "RDO:0007285"^^xsd:string) AnnotationAssertion( "MESH:D019588"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002644"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Aging"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia) AnnotationAssertion( "MESH:C567412"^^xsd:string) AnnotationAssertion( "RDO:0015490"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002645"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auriculocondylar Syndrome 3) AnnotationAssertion( "MIM:615706"^^xsd:string) AnnotationAssertion( "ARCND3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002646"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculocondylar Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Megalencephaly - Cutis Marmorata Telangiectatica Congenita) AnnotationAssertion( "MIM:602501"^^xsd:string) AnnotationAssertion( "EFO:0009146"^^xsd:string) AnnotationAssertion( "MESH:C536142"^^xsd:string) AnnotationAssertion( "MCAP"^^xsd:string) AnnotationAssertion( "MCM"^^xsd:string) AnnotationAssertion( "MCMTC"^^xsd:string) AnnotationAssertion( "Macrocephaly cutis marmorata telangiectatica congenita"^^xsd:string) AnnotationAssertion( "Macrocephaly-Capillary Malformation"^^xsd:string) AnnotationAssertion( "PIK3CA-related overgrowth spectrum"^^xsd:string) AnnotationAssertion( "VASCULAR MALFORMATIONS AND OVERGROWTH"^^xsd:string) AnnotationAssertion( "megalencephaly-capillary malformation-polymicrogyria syndrome"^^xsd:string) AnnotationAssertion( "megalocephaly - cutis marmorata telangiectatica congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002647"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly - Cutis Marmorata Telangiectatica Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acrodysostosis 2, with or without Hormone Resistance) AnnotationAssertion( "MIM:614613"^^xsd:string) AnnotationAssertion( "ACRDYS2"^^xsd:string) AnnotationAssertion( "PDE4D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002649"^^xsd:string) AnnotationAssertion(rdfs:label "Acrodysostosis 2, with or without Hormone Resistance"^^xsd:string) SubClassOf( ) # Class: (Sebaceous Nevus Syndrome and Hemimegalencephaly) AnnotationAssertion( "MESH:C563339"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002650"^^xsd:string) AnnotationAssertion(rdfs:label "Sebaceous Nevus Syndrome and Hemimegalencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT) AnnotationAssertion(Annotation( "MIM:618806"^^xsd:string) "An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-20T15:51:45Z"^^xsd:string) AnnotationAssertion( "MIM:618806"^^xsd:string) AnnotationAssertion( "TLIND"^^xsd:string) AnnotationAssertion( "autosomal dominant infantile T-cell lymphopenia with or without nail dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002651"^^xsd:string) AnnotationAssertion(rdfs:label "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alpha-Thalassemia 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "Alpha plus thalassemia"^^xsd:string) AnnotationAssertion( "Alpha-thalassemia, dutch type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Alpha+ Thalassemia"^^xsd:string) AnnotationAssertion( "Alpha+ Thalassemia, NOS"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN EVANSTON"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN RIO CLARO"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN ZURICH ALBISRIEDEN"^^xsd:string) AnnotationAssertion( "DOID:9002652"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Thalassemia 2"^^xsd:string) SubClassOf( ) # Class: (Avulavirus Infections) AnnotationAssertion(Annotation( "MESH:D045463"^^xsd:string) "Infections with viruses of the genus AVULAVIRUS, family PARAMYXOVIRIDAE. This includes NEWCASTLE DISEASE and other infections of domestic fowl."^^xsd:string) AnnotationAssertion( "EFO:0007161"^^xsd:string) AnnotationAssertion( "MESH:D045463"^^xsd:string) AnnotationAssertion( "RDO:0006220"^^xsd:string) AnnotationAssertion( "Avulavirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002653"^^xsd:string) AnnotationAssertion(rdfs:label "Avulavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Intraabdominal Infections) AnnotationAssertion(Annotation( "MESH:D059413"^^xsd:string) "Infection within the PERITONEAL CAVITY. A frequent cause is an ANASTOMOTIC LEAK following surgery."^^xsd:string) AnnotationAssertion( "MESH:D059413"^^xsd:string) AnnotationAssertion( "Intra Abdominal Infections"^^xsd:string) AnnotationAssertion( "Intra-Abdominal Infection"^^xsd:string) AnnotationAssertion( "Intraabdominal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002654"^^xsd:string) AnnotationAssertion(rdfs:label "Intraabdominal Infections"^^xsd:string) SubClassOf( ) # Class: (Hyperkinetic Conduct Disorder) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002120"^^xsd:string) AnnotationAssertion( "HD & CD"^^xsd:string) AnnotationAssertion( "hyperkinetic disorder and conduct disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002655"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkinetic Conduct Disorder"^^xsd:string) SubClassOf( ) # Class: (Attention Deficit-Hyperactivity Disorder 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T11:40:00Z"^^xsd:string) AnnotationAssertion( "MIM:613003"^^xsd:string) AnnotationAssertion( "ADHD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "attention deficit-hyperactivity disorder, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "DOID:9002656"^^xsd:string) AnnotationAssertion(rdfs:label "Attention Deficit-Hyperactivity Disorder 7"^^xsd:string) SubClassOf( ) # Class: (Malocclusion and Short Stature) AnnotationAssertion( "MIM:248350"^^xsd:string) AnnotationAssertion( "MESH:C565421"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002657"^^xsd:string) AnnotationAssertion(rdfs:label "Malocclusion and Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trisomy 20p) AnnotationAssertion( "MESH:C535371"^^xsd:string) AnnotationAssertion( "Chromosome 20, duplication 20p"^^xsd:string) AnnotationAssertion( "Duplication 20p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002658"^^xsd:string) AnnotationAssertion(rdfs:label "Trisomy 20p"^^xsd:string) SubClassOf( ) # Class: (Selig Benacerraf Greene Syndrome) AnnotationAssertion( "MESH:C535840"^^xsd:string) AnnotationAssertion( "Renal dysplasia, megalocystis, and sirenomelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002659"^^xsd:string) AnnotationAssertion(rdfs:label "Selig Benacerraf Greene Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alert Fatigue, Health Personnel) AnnotationAssertion(Annotation( "MESH:D000071064"^^xsd:string) "Mental fatigue experienced by health care providers who encounter numerous alerts and reminders from the use of CLINICAL DECISION SUPPORT SYSTEMS. As the numbers of alerts and reminders designed to provide meaningful assistance to the patient care process increases, many health personnel may ignore them."^^xsd:string) AnnotationAssertion( "MESH:D000071064"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002660"^^xsd:string) AnnotationAssertion(rdfs:label "Alert Fatigue, Health Personnel"^^xsd:string) SubClassOf( ) # Class: (Diabetes Complications) AnnotationAssertion(Annotation( "MESH:D048909"^^xsd:string) "Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE."^^xsd:string) AnnotationAssertion( "MESH:D048909"^^xsd:string) AnnotationAssertion( "RDO:0001421"^^xsd:string) AnnotationAssertion( "Complications of Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "Diabetes Complication"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus Complication"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus Complications"^^xsd:string) AnnotationAssertion( "Diabetes Related Complications"^^xsd:string) AnnotationAssertion( "Diabetes-Related Complication"^^xsd:string) AnnotationAssertion( "Diabetic Complication"^^xsd:string) AnnotationAssertion( "Diabetic Complications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002661"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetes Complications"^^xsd:string) SubClassOf( ) # Class: (Curatolo Cilio Pessagno Syndrome) AnnotationAssertion( "MESH:C536701"^^xsd:string) AnnotationAssertion( "RDO:0002357"^^xsd:string) AnnotationAssertion( "White matter hypoplasia, corpus callosum agenesia, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002662"^^xsd:string) AnnotationAssertion(rdfs:label "Curatolo Cilio Pessagno Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Cancer with In Vitro Radioresistance) AnnotationAssertion( "MIM:114450"^^xsd:string) AnnotationAssertion( "RDO:0014615"^^xsd:string) AnnotationAssertion( "MESH:C566179"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002663"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cancer with In Vitro Radioresistance"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Seizures Mental Retardation Heart Disorders) AnnotationAssertion( "MESH:C537544"^^xsd:string) AnnotationAssertion( "Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002664"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Seizures Mental Retardation Heart Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bruck Syndrome 2) AnnotationAssertion( "MESH:C537407"^^xsd:string) AnnotationAssertion( "MIM:609220"^^xsd:string) AnnotationAssertion( "MONDO:0012217"^^xsd:string) AnnotationAssertion( "BRKS2"^^xsd:string) AnnotationAssertion( "PLOD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002665"^^xsd:string) AnnotationAssertion(rdfs:label "Bruck Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hypogonadotropic Hypogonadism 26 with or without Anosmia) AnnotationAssertion(Annotation( "MIM:619718"^^xsd:string) "Characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Caused by heterozygous mutation in the TCF12 gene on chromosome 15q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-27T10:03:56Z"^^xsd:string) AnnotationAssertion( "MIM:619718"^^xsd:string) AnnotationAssertion( "HH26"^^xsd:string) AnnotationAssertion( "HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002666"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadotropic Hypogonadism 26 with or without Anosmia"^^xsd:string) SubClassOf( ) # Class: (Lysine Malabsorption Syndrome) AnnotationAssertion( "MIM:247950"^^xsd:string) AnnotationAssertion( "MESH:C563080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002667"^^xsd:string) AnnotationAssertion(rdfs:label "Lysine Malabsorption Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Liver Abscess) AnnotationAssertion(Annotation( "MESH:D008100"^^xsd:string) "Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents."^^xsd:string) AnnotationAssertion( "MESH:D008100"^^xsd:string) AnnotationAssertion( "Hepatic Abscess"^^xsd:string) AnnotationAssertion( "Hepatic Abscesses"^^xsd:string) AnnotationAssertion( "Liver Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002668"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypoxia) AnnotationAssertion(Annotation( "MESH:D000860"^^xsd:string) "Sub-optimal OXYGEN levels in the ambient air of living organisms."^^xsd:string) AnnotationAssertion( "EFO:0009444"^^xsd:string) AnnotationAssertion( "MESH:D000860"^^xsd:string) AnnotationAssertion( "Oxygen Deficiencies"^^xsd:string) AnnotationAssertion( "Oxygen Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Anoxia"^^xsd:string) AnnotationAssertion( "DOID:9002669"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoxia"^^xsd:string) SubClassOf( ) # Class: (HTLV-I Infections) AnnotationAssertion(Annotation( "MESH:D015490"^^xsd:string) "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1."^^xsd:string) AnnotationAssertion( "RDO:0006891"^^xsd:string) AnnotationAssertion( "EFO:0007316"^^xsd:string) AnnotationAssertion( "MESH:D015490"^^xsd:string) AnnotationAssertion( "HTLV-I Infection"^^xsd:string) AnnotationAssertion( "Human T-lymphotropic virus 1 infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002670"^^xsd:string) AnnotationAssertion(rdfs:label "HTLV-I Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Marek Disease) AnnotationAssertion(Annotation( "MESH:D008380"^^xsd:string) "A transmissible viral disease of birds caused by avian herpesvirus 2 (HERPESVIRUS 2, GALLID) and other MARDIVIRUS. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye."^^xsd:string) AnnotationAssertion( "MESH:D008380"^^xsd:string) AnnotationAssertion( "NCI:C84884"^^xsd:string) AnnotationAssertion( "Fowl Paralyses"^^xsd:string) AnnotationAssertion( "Fowl Paralysis"^^xsd:string) AnnotationAssertion( "Marek's Disease"^^xsd:string) AnnotationAssertion( "Mareks Disease"^^xsd:string) AnnotationAssertion( "Neurolymphomatoses"^^xsd:string) AnnotationAssertion( "Neurolymphomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002673"^^xsd:string) AnnotationAssertion(rdfs:label "Marek Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laryngeal Granuloma) AnnotationAssertion(Annotation( "MESH:D006102"^^xsd:string) "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX."^^xsd:string) AnnotationAssertion( "MESH:D006102"^^xsd:string) AnnotationAssertion( "Granuloma of Larynx"^^xsd:string) AnnotationAssertion( "Laryngeal Granulomas"^^xsd:string) AnnotationAssertion( "Larynx Granuloma"^^xsd:string) AnnotationAssertion( "Larynx Granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002674"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Renal Cancer Associated 1) AnnotationAssertion( "MESH:C564169"^^xsd:string) AnnotationAssertion( "RDO:0013216"^^xsd:string) AnnotationAssertion( "Renal Carcinoma, Familial, Associated 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002675"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Renal Cancer Associated 1"^^xsd:string) SubClassOf( ) # Class: (Cerebral Hemorrhage) AnnotationAssertion(Annotation( "MESH:D002543"^^xsd:string) "Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA."^^xsd:string) AnnotationAssertion( "COL4A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL4A2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "EFO:0005669"^^xsd:string) AnnotationAssertion( "EFO:0010178"^^xsd:string) AnnotationAssertion( "EFO:0020101"^^xsd:string) AnnotationAssertion( "MESH:D002543"^^xsd:string) AnnotationAssertion( "MIM:614519"^^xsd:string) AnnotationAssertion( "NCI:C50485"^^xsd:string) AnnotationAssertion( "Cerebral Brain Hemorrhage"^^xsd:string) AnnotationAssertion( "Cerebral Brain Hemorrhages"^^xsd:string) AnnotationAssertion( "Cerebral Hemorrhages"^^xsd:string) AnnotationAssertion( "Cerebral Parenchymal Hemorrhage"^^xsd:string) AnnotationAssertion( "Cerebral Parenchymal Hemorrhages"^^xsd:string) AnnotationAssertion( "Cerebrum Hemorrhage"^^xsd:string) AnnotationAssertion( "Cerebrum Hemorrhages"^^xsd:string) AnnotationAssertion( "ICH"^^xsd:string) AnnotationAssertion( "Intracerebral Hemorrhage"^^xsd:string) AnnotationAssertion( "Intracerebral Hemorrhages"^^xsd:string) AnnotationAssertion( "parenchymal hematoma"^^xsd:string) AnnotationAssertion( "non-lobar intracerebral hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hemorrhage, intracerebral, susceptibility to"^^xsd:string) AnnotationAssertion( "STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9002676"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Colic) AnnotationAssertion(Annotation( "MESH:D003085"^^xsd:string) "A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT."^^xsd:string) AnnotationAssertion( "MESH:D003085"^^xsd:string) AnnotationAssertion( "Abdominal Cramp"^^xsd:string) AnnotationAssertion( "Abdominal Cramps"^^xsd:string) AnnotationAssertion( "Infantile Colic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002677"^^xsd:string) AnnotationAssertion(rdfs:label "Colic"^^xsd:string) SubClassOf( ) # Class: (Kumar Levick Syndrome) AnnotationAssertion( "MIM:106990"^^xsd:string) AnnotationAssertion( "MESH:C536379"^^xsd:string) AnnotationAssertion( "anonychia-onychodystrophy with brachydactyly type B and ectrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002678"^^xsd:string) AnnotationAssertion(rdfs:label "Kumar Levick Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Premature Ovarian Failure, Familial) AnnotationAssertion( "MESH:C535272"^^xsd:string) AnnotationAssertion( "Idiopathic familial premature ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002679"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Ovarian Failure, Familial"^^xsd:string) SubClassOf( ) # Class: (Zimmermann-Laband Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-12T11:38:08Z"^^xsd:string) AnnotationAssertion( "KCNH1 ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "KCNH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:135500"^^xsd:string) AnnotationAssertion( "ZLS1"^^xsd:string) AnnotationAssertion( "gingival fibromatosis with abnormal fingers, fingernails, nose and ears, and splenomegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002680"^^xsd:string) AnnotationAssertion(rdfs:label "Zimmermann-Laband Syndrome 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cardiovascular Abnormalities) AnnotationAssertion(Annotation( "MESH:D018376"^^xsd:string) "Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS."^^xsd:string) AnnotationAssertion( "EFO:0003848"^^xsd:string) AnnotationAssertion( "MESH:D018376"^^xsd:string) AnnotationAssertion( "RDO:0000746"^^xsd:string) AnnotationAssertion( "Cardiovascular Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "abnormality of cardiovascular system morphology"^^xsd:string) AnnotationAssertion( "DOID:9002682"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiovascular Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Back Injuries) AnnotationAssertion(Annotation( "MESH:D019567"^^xsd:string) "General or unspecified injuries to the posterior part of the trunk. It includes injuries to the muscles of the back."^^xsd:string) AnnotationAssertion( "MESH:D019567"^^xsd:string) AnnotationAssertion( "Back Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002683"^^xsd:string) AnnotationAssertion(rdfs:label "Back Injuries"^^xsd:string) SubClassOf( ) # Class: (Localized Epidermolysis Bullosa Simplex 1C) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T12:17:49Z"^^xsd:string) AnnotationAssertion( "MIM:131800"^^xsd:string) AnnotationAssertion( "EBS1C"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 1C, Weber-Cockayne type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002684"^^xsd:string) AnnotationAssertion(rdfs:label "Localized Epidermolysis Bullosa Simplex 1C"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4) AnnotationAssertion( "MIM:616371"^^xsd:string) AnnotationAssertion( "PFBMFT4"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002685"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4"^^xsd:string) SubClassOf( ) # Class: (Behrens Baumann Dust Syndrome) AnnotationAssertion( "MESH:C537670"^^xsd:string) AnnotationAssertion( "RDO:0003550"^^xsd:string) AnnotationAssertion( "Oculo-cerebral dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002686"^^xsd:string) AnnotationAssertion(rdfs:label "Behrens Baumann Dust Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arthrogryposis and Ectodermal Dysplasia) AnnotationAssertion( "MIM:601701"^^xsd:string) AnnotationAssertion( "MESH:C537441"^^xsd:string) AnnotationAssertion( "Alves syndrome"^^xsd:string) AnnotationAssertion( "Arthrogryposis ectodermal dysplasia other anomalies"^^xsd:string) AnnotationAssertion( "Cote Adamopoulos Pantelakis syndrome"^^xsd:string) AnnotationAssertion( "TODV syndrome"^^xsd:string) AnnotationAssertion( "Trichooculodermovertebral syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002687"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis and Ectodermal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly with Chorioretinopathy, Autosomal Dominant) AnnotationAssertion( "MESH:C563583"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002688"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Chorioretinopathy, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spontaneous Neoplasm Regression) AnnotationAssertion(Annotation( "MESH:D009365"^^xsd:string) "Disappearance of a neoplasm or neoplastic state without the intervention of therapy."^^xsd:string) AnnotationAssertion( "RDO:0006194"^^xsd:string) AnnotationAssertion( "MESH:D009365"^^xsd:string) AnnotationAssertion( "Spontaneous Neoplasm Remission"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002689"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Neoplasm Regression"^^xsd:string) SubClassOf( ) # Class: (Achondrogenesis, Type 3) AnnotationAssertion( "MESH:C536018"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002690"^^xsd:string) AnnotationAssertion(rdfs:label "Achondrogenesis, Type 3"^^xsd:string) SubClassOf( ) # Class: (Stickler Syndrome, Type V) AnnotationAssertion( "OMIA:001523"^^xsd:string) AnnotationAssertion( "COL9A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COL9A2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614284"^^xsd:string) AnnotationAssertion( "Oculoskeletal dysplasia 2"^^xsd:string) AnnotationAssertion( "STL5"^^xsd:string) AnnotationAssertion( "Stickler Syndrome, Type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002691"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler Syndrome, Type V"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cataract, Polymorphic and Lamellar) AnnotationAssertion( "MESH:C563603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002693"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Polymorphic and Lamellar"^^xsd:string) SubClassOf( ) # Class: (Synpolydactyly 3) AnnotationAssertion( "MIM:610234"^^xsd:string) AnnotationAssertion( "MESH:C565216"^^xsd:string) AnnotationAssertion( "SPD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002694"^^xsd:string) AnnotationAssertion(rdfs:label "Synpolydactyly 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cataplexy) AnnotationAssertion(Annotation( "MESH:D002385"^^xsd:string) "A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)"^^xsd:string) AnnotationAssertion( "MESH:D002385"^^xsd:string) AnnotationAssertion( "Cataleptic Attack"^^xsd:string) AnnotationAssertion( "Cataleptic Attacks"^^xsd:string) AnnotationAssertion( "Henneberg Syndrome"^^xsd:string) AnnotationAssertion( "Status Cataplexicus"^^xsd:string) AnnotationAssertion( "Tonelessness Syndrome"^^xsd:string) AnnotationAssertion( "Tonelessness Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002695"^^xsd:string) AnnotationAssertion(rdfs:label "Cataplexy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Rigor Mortis) AnnotationAssertion(Annotation( "MESH:D012298"^^xsd:string) "Muscular rigidity which develops in the cadaver usually from 4 to 10 hours after death and lasts 3 or 4 days."^^xsd:string) AnnotationAssertion( "MESH:D012298"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002698"^^xsd:string) AnnotationAssertion(rdfs:label "Rigor Mortis"^^xsd:string) SubClassOf( ) # Class: (Periapical Diseases) AnnotationAssertion(Annotation( "MESH:D010483"^^xsd:string) "Diseases of the PERIAPICAL TISSUE surrounding the root of the tooth, which is distinguished from DENTAL PULP DISEASES inside the TOOTH ROOT."^^xsd:string) AnnotationAssertion( "RDO:0006316"^^xsd:string) AnnotationAssertion( "EFO:0010688"^^xsd:string) AnnotationAssertion( "MESH:D010483"^^xsd:string) AnnotationAssertion( "Periapical Disease"^^xsd:string) AnnotationAssertion( "disease of periapical tissue"^^xsd:string) AnnotationAssertion( "periapical tissue condition"^^xsd:string) AnnotationAssertion( "periapical tissue disease"^^xsd:string) AnnotationAssertion( "periapical tissue disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002699"^^xsd:string) AnnotationAssertion(rdfs:label "Periapical Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Intradural Arachnoid Cysts) AnnotationAssertion( "MIM:182990"^^xsd:string) AnnotationAssertion( "MESH:C536878"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002701"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Intradural Arachnoid Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects) AnnotationAssertion( "MESH:C564690"^^xsd:string) AnnotationAssertion( "RDO:0013563"^^xsd:string) AnnotationAssertion( "Left Ventricular Noncompaction with Congenital Heart Defects"^^xsd:string) AnnotationAssertion( "Left Ventricular Noncompaction, Nonisolated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002702"^^xsd:string) AnnotationAssertion(rdfs:label "Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects"^^xsd:string) SubClassOf( ) # Class: (Thumb Deformity, Alopecia, Pigmentation Anomaly) AnnotationAssertion( "MESH:C536904"^^xsd:string) AnnotationAssertion( "RDO:0002625"^^xsd:string) AnnotationAssertion( "Congenital deformity of the thumb and congenital alopecia"^^xsd:string) AnnotationAssertion( "Hypotrichosis associated with congenital hypoplasia of the thumb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002703"^^xsd:string) AnnotationAssertion(rdfs:label "Thumb Deformity, Alopecia, Pigmentation Anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leukoencephalopathies) AnnotationAssertion(Annotation( "MESH:D056784"^^xsd:string) "Any of various diseases affecting the white matter of the central nervous system."^^xsd:string) AnnotationAssertion( "OMIA:000526"^^xsd:string) AnnotationAssertion( "RDO:0001248"^^xsd:string) AnnotationAssertion( "MESH:D056784"^^xsd:string) AnnotationAssertion( "CACH Syndromes"^^xsd:string) AnnotationAssertion( "CACH VWM Syndrome"^^xsd:string) AnnotationAssertion( "CACH VWM Syndromes"^^xsd:string) AnnotationAssertion( "CACH syndrome"^^xsd:string) AnnotationAssertion( "Childhood Ataxia with Diffuse Central Nervous System Hypomyelination"^^xsd:string) AnnotationAssertion( "Hypomyelination of the central nervous system"^^xsd:string) AnnotationAssertion( "Leukoencephalopathy"^^xsd:string) AnnotationAssertion( "Myelinosis Centralis Diffusa"^^xsd:string) AnnotationAssertion( "Myelinosis Centralis Diffusas"^^xsd:string) AnnotationAssertion( "White Matter Disease"^^xsd:string) AnnotationAssertion( "white matter diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002704"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathies"^^xsd:string) SubClassOf( ) # Class: (schizoaffective disorder, bipolar type) AnnotationAssertion(Annotation( "EFO:0009965"^^xsd:string) "This is a schizoaffective disorder that is distinguished by symptoms of mania, hypomania, or mixed episode"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-25T10:00:22Z"^^xsd:string) AnnotationAssertion( "EFO:0009965"^^xsd:string) AnnotationAssertion( "Schizoaffective disorder-bipolar type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002705"^^xsd:string) AnnotationAssertion(rdfs:label "schizoaffective disorder, bipolar type"^^xsd:string) SubClassOf( ) # Class: (Histidinuria, Renal Tubular Defect) AnnotationAssertion( "MIM:235830"^^xsd:string) AnnotationAssertion( "MESH:C538321"^^xsd:string) AnnotationAssertion( "Histidinuria due to a Renal Tubular Defect"^^xsd:string) AnnotationAssertion( "Renal histidinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002706"^^xsd:string) AnnotationAssertion(rdfs:label "Histidinuria, Renal Tubular Defect"^^xsd:string) SubClassOf( ) # Class: (Hallux Varus) AnnotationAssertion(Annotation( "MESH:D050488"^^xsd:string) "Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired."^^xsd:string) AnnotationAssertion( "MESH:D050488"^^xsd:string) AnnotationAssertion( "RDO:0002602"^^xsd:string) AnnotationAssertion( "Metatarsus Primus Varus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002707"^^xsd:string) AnnotationAssertion(rdfs:label "Hallux Varus"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Rubulavirus Infections) AnnotationAssertion(Annotation( "MESH:D019351"^^xsd:string) "Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE."^^xsd:string) AnnotationAssertion( "MESH:D019351"^^xsd:string) AnnotationAssertion( "RDO:0006154"^^xsd:string) AnnotationAssertion( "Rubulavirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002710"^^xsd:string) AnnotationAssertion(rdfs:label "Rubulavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Gallbladder Disease 2) AnnotationAssertion( "MIM:609918"^^xsd:string) AnnotationAssertion( "MESH:C563687"^^xsd:string) AnnotationAssertion( "GBD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002711"^^xsd:string) AnnotationAssertion(rdfs:label "Gallbladder Disease 2"^^xsd:string) SubClassOf( ) # Class: (Thymic-Renal-Anal-Lung Dysplasia) AnnotationAssertion( "Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)."^^xsd:string) AnnotationAssertion( "MIM:274265"^^xsd:string) AnnotationAssertion( "MESH:C536907"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002712"^^xsd:string) AnnotationAssertion(rdfs:label "Thymic-Renal-Anal-Lung Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gardner Morrisson Abbot Syndrome) AnnotationAssertion( "MESH:C535643"^^xsd:string) AnnotationAssertion( "Thrombocytopenia multiple congenital anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002713"^^xsd:string) AnnotationAssertion(rdfs:label "Gardner Morrisson Abbot Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type) AnnotationAssertion( "MIM:219900"^^xsd:string) AnnotationAssertion( "EFO:0009049"^^xsd:string) AnnotationAssertion( "MESH:C562683"^^xsd:string) AnnotationAssertion( "Cystinosis, Intermediate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002714"^^xsd:string) AnnotationAssertion(rdfs:label "Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Ovarian Insufficiency 20) AnnotationAssertion(Annotation( "MIM:619938"^^xsd:string) "Characterized by female infertility due to secondary amenorrhea. Caused by homozygous mutation in the MSH4 gene on chromosome 1p31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-01T12:30:30Z"^^xsd:string) AnnotationAssertion( "MIM:619938"^^xsd:string) AnnotationAssertion( "POF20"^^xsd:string) AnnotationAssertion( "premature ovarian failure 20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002716"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ovarian Insufficiency 20"^^xsd:string) SubClassOf( ) # Class: (Parvovirus Antenatal Infection) AnnotationAssertion( "MESH:C536301"^^xsd:string) AnnotationAssertion( "RDO:0001827"^^xsd:string) AnnotationAssertion( "Maternofetal infection by parvovirus"^^xsd:string) AnnotationAssertion( "Parvovirus B19 antenatal infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002717"^^xsd:string) AnnotationAssertion(rdfs:label "Parvovirus Antenatal Infection"^^xsd:string) SubClassOf( ) # Class: (Colles' Fracture) AnnotationAssertion(Annotation( "MESH:D003100"^^xsd:string) "Fracture of the lower end of the radius in which the lower fragment is displaced posteriorly."^^xsd:string) AnnotationAssertion( "MESH:D003100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002718"^^xsd:string) AnnotationAssertion(rdfs:label "Colles' Fracture"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hairy Ears, Y-Linked) AnnotationAssertion( "MIM:425500"^^xsd:string) AnnotationAssertion( "MESH:C564029"^^xsd:string) AnnotationAssertion( "Hypertrichosis Pinnae Auris, Y-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002719"^^xsd:string) AnnotationAssertion(rdfs:label "Hairy Ears, Y-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Splenomegaly) AnnotationAssertion(Annotation( "MESH:D013163"^^xsd:string) "Enlargement of the spleen."^^xsd:string) AnnotationAssertion( "MESH:D013163"^^xsd:string) AnnotationAssertion( "Enlarged Spleen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002720"^^xsd:string) AnnotationAssertion(rdfs:label "Splenomegaly"^^xsd:string) SubClassOf( ) # Class: (Hypertensive Nephrosclerosis) AnnotationAssertion( "Fibrosis of the kidney caused by chronic hypertension."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "HTNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002721"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertensive Nephrosclerosis"^^xsd:string) SubClassOf( ) # Class: (Gastric Adenocarcinoma and Proximal Polyposis of the Stomach) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-15T10:01:11Z"^^xsd:string) AnnotationAssertion( "MIM:619182"^^xsd:string) AnnotationAssertion( "MESH:C566775"^^xsd:string) AnnotationAssertion( "GAPPS"^^xsd:string) AnnotationAssertion( "fundic gland polyposis"^^xsd:string) AnnotationAssertion( "polyposis of gastric fundus without polyposis coli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002722"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Adenocarcinoma and Proximal Polyposis of the Stomach"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly, Long-Thumb Type) AnnotationAssertion( "MIM:112430"^^xsd:string) AnnotationAssertion( "MESH:C566204"^^xsd:string) AnnotationAssertion( "Long-Thumb Brachydactyly Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002724"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly, Long-Thumb Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leg Length Inequality) AnnotationAssertion(Annotation( "MESH:D007870"^^xsd:string) "A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery."^^xsd:string) AnnotationAssertion( "MESH:D007870"^^xsd:string) AnnotationAssertion( "Leg Length Inequalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002726"^^xsd:string) AnnotationAssertion(rdfs:label "Leg Length Inequality"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness) AnnotationAssertion( "MIM:226950"^^xsd:string) AnnotationAssertion( "MESH:C565585"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002727"^^xsd:string) AnnotationAssertion(rdfs:label "Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperkeratosis-Hyperpigmentation Syndrome) AnnotationAssertion( "MIM:144190"^^xsd:string) AnnotationAssertion( "MESH:C564172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002728"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkeratosis-Hyperpigmentation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meningioangiomatosis) AnnotationAssertion(Annotation( "NCI:C121967"^^xsd:string) "This is a rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-20T17:07:14Z"^^xsd:string) AnnotationAssertion( "EFO:1000371"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002729"^^xsd:string) AnnotationAssertion(rdfs:label "Meningioangiomatosis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T10:17:09Z"^^xsd:string) AnnotationAssertion( "MIM:620038"^^xsd:string) AnnotationAssertion( "NEDMHAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002730"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 7, Trisomy 7p) AnnotationAssertion( "MESH:C537819"^^xsd:string) AnnotationAssertion( "duplication 7p"^^xsd:string) AnnotationAssertion( "trisomy 7p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002732"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Trisomy 7p"^^xsd:string) SubClassOf( ) # Class: (RIV Immunoglobulin Variant Protein, Human) AnnotationAssertion( "MESH:C484001"^^xsd:string) AnnotationAssertion( "RDO:0000008"^^xsd:string) AnnotationAssertion( "protein RIV, human"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002733"^^xsd:string) AnnotationAssertion(rdfs:label "RIV Immunoglobulin Variant Protein, Human"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group H) AnnotationAssertion( "MESH:C566626"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002734"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group H"^^xsd:string) SubClassOf( ) # Class: (alcohol withdrawal syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Alcohol_withdrawal_syndrome"^^xsd:string) Annotation( "https://www.aafp.org/pubs/afp/issues/2004/0315/p1443.html"^^xsd:string) "The symptoms of this medical condition occur following a reduction in alcohol use after a period of excessive use and ranges from such minor symptoms as insomnia and tremulousness to severe complications such as withdrawal seizures and delirium tremens. Although the history and physical examination usually are sufficient to diagnose alcohol withdrawal syndrome, other conditions may present with similar symptoms."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-16T14:06:02Z"^^xsd:string) AnnotationAssertion( "AWS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002735"^^xsd:string) AnnotationAssertion(rdfs:label "alcohol withdrawal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Premature Cardiac Complexes) AnnotationAssertion(Annotation( "MESH:D005117"^^xsd:string) "A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases."^^xsd:string) AnnotationAssertion( "EFO:0009275"^^xsd:string) AnnotationAssertion( "MESH:D005117"^^xsd:string) AnnotationAssertion( "Ectopic Heartbeat"^^xsd:string) AnnotationAssertion( "Ectopic Heartbeats"^^xsd:string) AnnotationAssertion( "Extrasystole"^^xsd:string) AnnotationAssertion( "Extrasystoles"^^xsd:string) AnnotationAssertion( "Premature Beat"^^xsd:string) AnnotationAssertion( "Premature Beats"^^xsd:string) AnnotationAssertion( "Premature Cardiac Complex"^^xsd:string) AnnotationAssertion( "Premature Cardiac Complices"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002737"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Cardiac Complexes"^^xsd:string) SubClassOf( ) # Class: (Exercise-Induced Allergies) AnnotationAssertion( "Allergic reactions following a period of exercise. Elevated serum HISTAMINE and TRYPTASE levels and cutaneous MAST CELL degranulation are often associated with post-exertional allergic reactions which sometimes are triggered only in combination with prior consumption of a specific food such as wheat. Allergic symptoms produced post-exercise range from skin eruption, asthma, bronchospasm, and anaphylaxis."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:25:01Z"^^xsd:string) AnnotationAssertion( "MESH:D000092202"^^xsd:string) AnnotationAssertion( "Exercise-Induced Anaphylaxis"^^xsd:string) AnnotationAssertion( "Exercise-Induced Anaphylaxis and Urticaria"^^xsd:string) AnnotationAssertion( "Exercise-Induced Urticaria"^^xsd:string) AnnotationAssertion( "Food-Dependent Exercise-Induced Allergies"^^xsd:string) AnnotationAssertion( "Post-Exertional Allergic Reactions"^^xsd:string) AnnotationAssertion( "Wheat-Dependent Exercise-Induced Anaphylaxis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002738"^^xsd:string) AnnotationAssertion(rdfs:label "Exercise-Induced Allergies"^^xsd:string) SubClassOf( ) # Class: (Female Urogenital Diseases) AnnotationAssertion(Annotation( "MESH:D052776"^^xsd:string) "Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE)."^^xsd:string) AnnotationAssertion( "MESH:D052776"^^xsd:string) AnnotationAssertion( "RDO:0005654"^^xsd:string) AnnotationAssertion( "Female Genitourinary Disease"^^xsd:string) AnnotationAssertion( "Female Genitourinary Diseases"^^xsd:string) AnnotationAssertion( "Female Urogenital Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002739"^^xsd:string) AnnotationAssertion(rdfs:label "Female Urogenital Diseases"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1q, Duplication 1q12 q21) AnnotationAssertion( "MESH:C538312"^^xsd:string) AnnotationAssertion( "Duplication 1q12 q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002740"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1q, Duplication 1q12 q21"^^xsd:string) SubClassOf( ) # Class: (Whiplash Injuries) AnnotationAssertion(Annotation( "MESH:D014911"^^xsd:string) "Hyperextension injury to the neck, often the result of being struck from behind by a fast-moving vehicle, in an automobile accident. (From Segen, The Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "MESH:D014911"^^xsd:string) AnnotationAssertion( "Whiplash Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002741"^^xsd:string) AnnotationAssertion(rdfs:label "Whiplash Injuries"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Bacterial Infections) AnnotationAssertion(Annotation( "MESH:D020806"^^xsd:string) "Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces."^^xsd:string) AnnotationAssertion( "MESH:D020806"^^xsd:string) AnnotationAssertion( "RDO:0005051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002742"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Bacterial Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Striatal Degeneration, Autosomal Dominant 1) AnnotationAssertion( "MIM:609161"^^xsd:string) AnnotationAssertion( "ADSD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002743"^^xsd:string) AnnotationAssertion(rdfs:label "Striatal Degeneration, Autosomal Dominant 1"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis Hystrix, Curth Macklin Type) AnnotationAssertion( "Four genetic disorders of keratinization are known to have a structural defect of tonofibrils. In the Curth-Macklin form of ichthyosis hystrix (IHCM), concentric unbroken shells of abnormal tonofilaments form around the nucleus. IHCM is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:146590"^^xsd:string) AnnotationAssertion( "MESH:C536088"^^xsd:string) AnnotationAssertion( "IHCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002744"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Hystrix, Curth Macklin Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617157"^^xsd:string) AnnotationAssertion( "SBIDDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002745"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infantile Myofibromatosis 2) AnnotationAssertion( "RDO:9000897"^^xsd:string) AnnotationAssertion( "MIM:615293"^^xsd:string) AnnotationAssertion( "IMF2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002746"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Myofibromatosis 2"^^xsd:string) SubClassOf( ) # Class: (Selective Tooth Agenesis 2) AnnotationAssertion( "MIM:602639"^^xsd:string) AnnotationAssertion( "RDO:0014847"^^xsd:string) AnnotationAssertion( "MESH:C566513"^^xsd:string) AnnotationAssertion( "HYD2"^^xsd:string) AnnotationAssertion( "Hypodontia-Oligodontia 2"^^xsd:string) AnnotationAssertion( "STHAG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002747"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 2"^^xsd:string) SubClassOf( ) # Class: (Candidiasis, Familial, 1) AnnotationAssertion( "MIM:114580"^^xsd:string) AnnotationAssertion( "MESH:C567779"^^xsd:string) AnnotationAssertion( "RDO:0015741"^^xsd:string) AnnotationAssertion( "CANDF1"^^xsd:string) AnnotationAssertion( "CMCT"^^xsd:string) AnnotationAssertion( "Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, With Or Without Thyroid Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002748"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 1"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 11) AnnotationAssertion( "MIM:611955"^^xsd:string) AnnotationAssertion( "MESH:C567449"^^xsd:string) AnnotationAssertion( "HPC11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002749"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 11"^^xsd:string) SubClassOf( ) # Class: (Rosenthal-Kloepfer Syndrome) AnnotationAssertion( "MIM:102100"^^xsd:string) AnnotationAssertion( "MESH:C535654"^^xsd:string) AnnotationAssertion( "Acromegaloid changes, cutis verticis gyrata and corneal leukoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002750"^^xsd:string) AnnotationAssertion(rdfs:label "Rosenthal-Kloepfer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder, Autosomal Recessive 19) AnnotationAssertion( "MIM:614343"^^xsd:string) AnnotationAssertion( "MRT19"^^xsd:string) AnnotationAssertion( "mental retardation, autosomal recessive 19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002751"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder, Autosomal Recessive 19"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619383"^^xsd:string) "This disease is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-23T17:57:12Z"^^xsd:string) AnnotationAssertion( "MIM:619383"^^xsd:string) AnnotationAssertion( "NEDHFBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002752"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Humerofemoral Hypoplasia with Radiotibial Ray Deficiency) AnnotationAssertion(Annotation( "MIM:618022"^^xsd:string) "A severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-11T12:41:35Z"^^xsd:string) AnnotationAssertion( "MIM:618022"^^xsd:string) AnnotationAssertion( "HFHRTRD"^^xsd:string) AnnotationAssertion( "HHRRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002753"^^xsd:string) AnnotationAssertion(rdfs:label "Humerofemoral Hypoplasia with Radiotibial Ray Deficiency"^^xsd:string) SubClassOf( ) # Class: (Pseudophakic Bullous Keratopathy) AnnotationAssertion( "A blister-like swelling of the cornea in an pseudophakic eye, that is an eye with an artificial lens."^^xsd:string) AnnotationAssertion( "PBK"^^xsd:string) AnnotationAssertion( "Pseudophakic corneal edema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002754"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudophakic Bullous Keratopathy"^^xsd:string) SubClassOf( ) # Class: (Benign Ovarian Mucinous Tumor) AnnotationAssertion(Annotation( "EFO:1000115"^^xsd:string) "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-07T14:13:03Z"^^xsd:string) AnnotationAssertion( "EFO:1000115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002755"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Ovarian Mucinous Tumor"^^xsd:string) SubClassOf( ) # Class: (Euhidrotic Ectodermal Dysplasia) AnnotationAssertion( "MIM:262020"^^xsd:string) AnnotationAssertion( "MESH:C535763"^^xsd:string) AnnotationAssertion( "Kopysc Barczyk Krol syndrome"^^xsd:string) AnnotationAssertion( "Pilodental dysplasia with refractive errors"^^xsd:string) AnnotationAssertion( "Trichodental dysplasia with hyperopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002756"^^xsd:string) AnnotationAssertion(rdfs:label "Euhidrotic Ectodermal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perrault Syndrome 3) AnnotationAssertion( "MIM:614129"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE HEARING IMPAIRMENT WITH NORMAL MENSTRUAL CYCLES"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 81"^^xsd:string) AnnotationAssertion( "DFNB81"^^xsd:string) AnnotationAssertion( "PRLTS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002757"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Congenital Hydrocephalus 5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-16T15:34:02Z"^^xsd:string) AnnotationAssertion( "MIM:620241"^^xsd:string) AnnotationAssertion( "HYC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SMARCC1-ASSOCIATED DEVELOPMENTAL DYSGENESIS SYNDROME"^^xsd:string) AnnotationAssertion( "hydrocephalus, congenital, 5, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9002758"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hydrocephalus 5"^^xsd:string) SubClassOf( ) # Class: (Mediastinal Cysts) AnnotationAssertion(Annotation( "MESH:D008476"^^xsd:string) "Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus."^^xsd:string) AnnotationAssertion( "EFO:1001368"^^xsd:string) AnnotationAssertion( "MESH:D008476"^^xsd:string) AnnotationAssertion( "Pericardial Cyst"^^xsd:string) AnnotationAssertion( "Pericardial Cysts"^^xsd:string) AnnotationAssertion( "Thoracic Cyst"^^xsd:string) AnnotationAssertion( "Thoracic Cysts"^^xsd:string) AnnotationAssertion( "Thymic Cyst"^^xsd:string) AnnotationAssertion( "Thymic Cysts"^^xsd:string) AnnotationAssertion( "Tracheal Cyst"^^xsd:string) AnnotationAssertion( "Tracheal Cysts"^^xsd:string) AnnotationAssertion( "mediastinal cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002759"^^xsd:string) AnnotationAssertion(rdfs:label "Mediastinal Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Morphological and Microscopic Findings) AnnotationAssertion(Annotation( "MESH:D065308"^^xsd:string) "Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques."^^xsd:string) AnnotationAssertion( "MESH:D065308"^^xsd:string) AnnotationAssertion( "RDO:0015969"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002760"^^xsd:string) AnnotationAssertion(rdfs:label "Morphological and Microscopic Findings"^^xsd:string) SubClassOf( ) # Class: (Dyschromatosis Universalis Hereditaria 1) AnnotationAssertion( "Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. Dyschromatosis universalis hereditaria-1 (DUH1) is caused by heterozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:0015389"^^xsd:string) AnnotationAssertion( "MESH:C567273"^^xsd:string) AnnotationAssertion( "MIM:127500"^^xsd:string) AnnotationAssertion( "DUH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002761"^^xsd:string) AnnotationAssertion(rdfs:label "Dyschromatosis Universalis Hereditaria 1"^^xsd:string) SubClassOf( ) # Class: (Ovarian Neoplasms) AnnotationAssertion(Annotation( "MESH:D010051"^^xsd:string) "Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS."^^xsd:string) AnnotationAssertion( "EFO:0003893"^^xsd:string) AnnotationAssertion( "EFO:1000137"^^xsd:string) AnnotationAssertion( "EFO:1000139"^^xsd:string) AnnotationAssertion( "EFO:1000140"^^xsd:string) AnnotationAssertion( "EFO:1000433"^^xsd:string) AnnotationAssertion( "EFO:1000436"^^xsd:string) AnnotationAssertion( "MESH:D010051"^^xsd:string) AnnotationAssertion( "ovarian neoplasm"^^xsd:string) AnnotationAssertion( "ovary neoplasm"^^xsd:string) AnnotationAssertion( "ovary neoplasms"^^xsd:string) AnnotationAssertion( "tumor of the ovary"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Endometrioid Tumor"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Serous Tumor"^^xsd:string) AnnotationAssertion( "Borderline Ovarian Surface Epithelial-Stromal Tumor"^^xsd:string) AnnotationAssertion( "Ovarian Steroid Cell Tumor"^^xsd:string) AnnotationAssertion( "Ovarian Tumor of the Thecoma/Fibroma Group"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002762"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Encephalomyelitis) AnnotationAssertion(Annotation( "MESH:D004681"^^xsd:string) "An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)"^^xsd:string) AnnotationAssertion( "EFO:0001066"^^xsd:string) AnnotationAssertion( "MESH:D004681"^^xsd:string) AnnotationAssertion( "Allergic Encephalomyelitis"^^xsd:string) AnnotationAssertion( "EAE"^^xsd:string) AnnotationAssertion( "Experimental Allergic Encephalomyelitides"^^xsd:string) AnnotationAssertion( "Experimental Allergic Encephalomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002763"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Encephalomyelitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Salivary Gland Fistula) AnnotationAssertion(Annotation( "MESH:D012467"^^xsd:string) "A fistula between a salivary duct or gland and the cutaneous surface of the oral cavity."^^xsd:string) AnnotationAssertion( "MESH:D012467"^^xsd:string) AnnotationAssertion( "Salivary Gland Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002764"^^xsd:string) AnnotationAssertion(rdfs:label "Salivary Gland Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Systemic Juvenile Rheumatoid Arthritis) AnnotationAssertion( "MIM:604302"^^xsd:string) AnnotationAssertion( "EFO:1001999"^^xsd:string) AnnotationAssertion( "MESH:C565798"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002765"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Juvenile Rheumatoid Arthritis"^^xsd:string) SubClassOf( ) # Class: (Knobloch Syndrome Type I) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-26T10:47:38Z"^^xsd:string) AnnotationAssertion( "COL18A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:267750"^^xsd:string) AnnotationAssertion( "NCI:C201594"^^xsd:string) AnnotationAssertion( "KNO1"^^xsd:string) AnnotationAssertion( "Knobloch syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002766"^^xsd:string) AnnotationAssertion(rdfs:label "Knobloch Syndrome Type I"^^xsd:string) SubClassOf( ) # Class: (Microhydranencephaly) AnnotationAssertion( "MIM:605013"^^xsd:string) AnnotationAssertion( "MESH:C537555"^^xsd:string) AnnotationAssertion( "Hydranencephaly and microcephaly"^^xsd:string) AnnotationAssertion( "MHAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002767"^^xsd:string) AnnotationAssertion(rdfs:label "Microhydranencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Perrault Syndrome 2) AnnotationAssertion( "MIM:614926"^^xsd:string) AnnotationAssertion( "PRLTS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002768"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects) AnnotationAssertion( "MIM:600123"^^xsd:string) AnnotationAssertion( "MESH:C563994"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002769"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eosinophilic Synovitis) AnnotationAssertion( "MESH:C535954"^^xsd:string) AnnotationAssertion( "RDO:0001341"^^xsd:string) AnnotationAssertion( "Idiopathic eosinophilic synovitis"^^xsd:string) AnnotationAssertion( "Shulman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002770"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Synovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bryant-Li-Bhoj Neurodevelopmental Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-10T13:38:59Z"^^xsd:string) AnnotationAssertion( "MIM:PS619720"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002771"^^xsd:string) AnnotationAssertion(rdfs:label "Bryant-Li-Bhoj Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) # Class: (Acute Rhinosinusitis) AnnotationAssertion( "Acute inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a sudden onset, sharp rise, and short course."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002772"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Rhinosinusitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mitochondrial DNA Depletion Syndrome, Myopathic Form) AnnotationAssertion( "MESH:C563698"^^xsd:string) AnnotationAssertion( "Mitochondrial DNA Depletion Myopathy, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002774"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial DNA Depletion Syndrome, Myopathic Form"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cognitive Dysfunction) AnnotationAssertion(Annotation( "MESH:D060825"^^xsd:string) "Diminished or impaired mental and/or intellectual function."^^xsd:string) AnnotationAssertion( "MESH:D060825"^^xsd:string) AnnotationAssertion( "Cognitive Decline"^^xsd:string) AnnotationAssertion( "Cognitive Dysfunctions"^^xsd:string) AnnotationAssertion( "Cognitive Impairment"^^xsd:string) AnnotationAssertion( "Cognitive Impairments"^^xsd:string) AnnotationAssertion( "Mental Deterioration"^^xsd:string) AnnotationAssertion( "cognitive declines"^^xsd:string) AnnotationAssertion( "mental deteriorations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002775"^^xsd:string) AnnotationAssertion(rdfs:label "Cognitive Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Abrikosov's Tumor) AnnotationAssertion( "MESH:C535558"^^xsd:string) AnnotationAssertion( "Abrikosoff's granulous cell tumor"^^xsd:string) AnnotationAssertion( "Abrikosoff's tumor"^^xsd:string) AnnotationAssertion( "Giant granulo-cellular Abrikosov's tumor"^^xsd:string) AnnotationAssertion( "Malignant variant of Abrikosov's tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002776"^^xsd:string) AnnotationAssertion(rdfs:label "Abrikosov's Tumor"^^xsd:string) SubClassOf( ) # Class: (Brain Stem Neoplasms) AnnotationAssertion(Annotation( "MESH:D020295"^^xsd:string) "Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA."^^xsd:string) AnnotationAssertion( "EFO:1001767"^^xsd:string) AnnotationAssertion( "MESH:D020295"^^xsd:string) AnnotationAssertion( "RDO:0007387"^^xsd:string) AnnotationAssertion( "Brain Stem Neoplasm"^^xsd:string) AnnotationAssertion( "Brain Stem Tumor"^^xsd:string) AnnotationAssertion( "Brain Stem Tumors"^^xsd:string) AnnotationAssertion( "Brainstem Neoplasm"^^xsd:string) AnnotationAssertion( "Brainstem Neoplasms"^^xsd:string) AnnotationAssertion( "Brainstem Tumor"^^xsd:string) AnnotationAssertion( "Brainstem Tumors"^^xsd:string) AnnotationAssertion( "Medullary Neoplasm"^^xsd:string) AnnotationAssertion( "Medullary Neoplasms"^^xsd:string) AnnotationAssertion( "Medullary Tumor"^^xsd:string) AnnotationAssertion( "Medullary Tumors"^^xsd:string) AnnotationAssertion( "Mesencephalic Neoplasm"^^xsd:string) AnnotationAssertion( "Mesencephalic Neoplasms"^^xsd:string) AnnotationAssertion( "Midbrain Neoplasm"^^xsd:string) AnnotationAssertion( "Midbrain Neoplasms"^^xsd:string) AnnotationAssertion( "Midbrain Tumor"^^xsd:string) AnnotationAssertion( "Midbrain Tumors"^^xsd:string) AnnotationAssertion( "Pontine Neoplasm"^^xsd:string) AnnotationAssertion( "Pontine Neoplasms"^^xsd:string) AnnotationAssertion( "Pontine Tumor"^^xsd:string) AnnotationAssertion( "Pontine Tumors"^^xsd:string) AnnotationAssertion( "Primary Brain Stem Neoplasms"^^xsd:string) AnnotationAssertion( "Primary Brainstem Neoplasm"^^xsd:string) AnnotationAssertion( "Primary Brainstem Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002777"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Stem Neoplasms"^^xsd:string) SubClassOf( ) # Class: (McPherson Clemens Syndrome) AnnotationAssertion( "MIM:601165"^^xsd:string) AnnotationAssertion( "MESH:C538160"^^xsd:string) AnnotationAssertion( "Cleft Lip-Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease"^^xsd:string) AnnotationAssertion( "Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002778"^^xsd:string) AnnotationAssertion(rdfs:label "McPherson Clemens Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss) AnnotationAssertion( "MYH14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614369"^^xsd:string) AnnotationAssertion( "RDO:9000679"^^xsd:string) AnnotationAssertion( "PNMHH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002779"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Recurrent Respiratory Papillomatosis) AnnotationAssertion( "An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction."^^xsd:string) AnnotationAssertion( "MIM:618803"^^xsd:string) AnnotationAssertion( "RDO:0000328"^^xsd:string) AnnotationAssertion( "MESH:C535297"^^xsd:string) AnnotationAssertion( "JRRP"^^xsd:string) AnnotationAssertion( "Juvenile laryngeal papilloma"^^xsd:string) AnnotationAssertion( "Juvenile-onset recurrent respiratory papillomatosis"^^xsd:string) AnnotationAssertion( "Laryngeal papilloma, recurrent"^^xsd:string) AnnotationAssertion( "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL"^^xsd:string) AnnotationAssertion( "Respiratory papillomatosis"^^xsd:string) AnnotationAssertion( "congenital juvenile recurrent respiratory papillomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002780"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Respiratory Papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zoonoses) AnnotationAssertion(Annotation( "MESH:D015047"^^xsd:string) "Diseases of non-human animals that may be transmitted to HUMANS or may be transmitted from humans to non-human animals."^^xsd:string) AnnotationAssertion( "MESH:D015047"^^xsd:string) AnnotationAssertion( "Zoonotic Disease"^^xsd:string) AnnotationAssertion( "Zoonotic Diseases"^^xsd:string) AnnotationAssertion( "Zoonotic Infection"^^xsd:string) AnnotationAssertion( "Zoonotic Infections"^^xsd:string) AnnotationAssertion( "Zoonotic Infectious Disease"^^xsd:string) AnnotationAssertion( "Zoonotic Infectious Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002781"^^xsd:string) AnnotationAssertion(rdfs:label "Zoonoses"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (UV-Induced Skin Damage) AnnotationAssertion( "RDO:9000711"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Uv-induced skin damage, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9002782"^^xsd:string) AnnotationAssertion(rdfs:label "UV-Induced Skin Damage"^^xsd:string) SubClassOf( ) # Class: (Ganser Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-24T09:44:20Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002783"^^xsd:string) AnnotationAssertion(rdfs:comment "Ganser syndrome was previously classified as a factitious disorder, but DSM-IV placed the syndrome under “Dissociative Disorders Not Otherwise Specified\" (Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 2000)"^^xsd:string) AnnotationAssertion(rdfs:label "Ganser Syndrome"^^xsd:string) SubClassOf( ) # Class: (Chromosome Xq Duplication Syndrome) AnnotationAssertion( "MESH:C536732"^^xsd:string) AnnotationAssertion( "RDO:0002398"^^xsd:string) AnnotationAssertion( "Chromosome Xq trisomy"^^xsd:string) AnnotationAssertion( "Dup(Xq) syndrome"^^xsd:string) AnnotationAssertion( "Duplication Xq"^^xsd:string) AnnotationAssertion( "Trisomy Xq"^^xsd:string) AnnotationAssertion( "X chromosome, trisomy Xq"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002784"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vitamin B Deficiency) AnnotationAssertion(Annotation( "MESH:D014804"^^xsd:string) "A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat."^^xsd:string) AnnotationAssertion( "MESH:D014804"^^xsd:string) AnnotationAssertion( "Vitamin B Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002785"^^xsd:string) AnnotationAssertion(rdfs:label "Vitamin B Deficiency"^^xsd:string) SubClassOf( ) # Class: (Surgical Wound Infection) AnnotationAssertion(Annotation( "MESH:D013530"^^xsd:string) "Infection occurring at the site of a surgical incision."^^xsd:string) AnnotationAssertion( "MESH:D013530"^^xsd:string) AnnotationAssertion( "RDO:0006651"^^xsd:string) AnnotationAssertion( "Postoperative Wound Infection"^^xsd:string) AnnotationAssertion( "Postoperative Wound Infections"^^xsd:string) AnnotationAssertion( "Surgical Site Infection"^^xsd:string) AnnotationAssertion( "Surgical Site Infections"^^xsd:string) AnnotationAssertion( "Surgical Wound Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002786"^^xsd:string) AnnotationAssertion(rdfs:label "Surgical Wound Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-14T17:54:41Z"^^xsd:string) AnnotationAssertion( "MIM:618286"^^xsd:string) AnnotationAssertion( "MACID"^^xsd:string) AnnotationAssertion( "MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION"^^xsd:string) AnnotationAssertion( "acquired macrocephaly with impaired intellectual development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002787"^^xsd:string) AnnotationAssertion(rdfs:label "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lacunar Strokes) AnnotationAssertion(Annotation( "MESH:D059409"^^xsd:string) "Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss."^^xsd:string) AnnotationAssertion( "MESH:D059409"^^xsd:string) AnnotationAssertion( "Lacunar Infarct"^^xsd:string) AnnotationAssertion( "Lacunar Infarction"^^xsd:string) AnnotationAssertion( "Lacunar Infarctions"^^xsd:string) AnnotationAssertion( "Lacunar Infarcts"^^xsd:string) AnnotationAssertion( "Lacunar Syndrome"^^xsd:string) AnnotationAssertion( "lacunar stroke"^^xsd:string) AnnotationAssertion( "lacunar syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002788"^^xsd:string) AnnotationAssertion(rdfs:label "Lacunar Strokes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE) AnnotationAssertion(Annotation( "MIM:300958"^^xsd:string) "This is a disease which occurs predominantly in females, is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems."^^xsd:string) AnnotationAssertion( "MIM:300958"^^xsd:string) AnnotationAssertion( "NCI:C129931"^^xsd:string) AnnotationAssertion( "DDX3X-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DDX3X-RELATED X-LINKED INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "MRX102"^^xsd:string) AnnotationAssertion( "MRXSSB"^^xsd:string) AnnotationAssertion( "Mental Retardation, X-Linked 102"^^xsd:string) AnnotationAssertion( "X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder, Snijders Blok type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002789"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE"^^xsd:string) SubClassOf( ) # Class: (Elastosis Perforans Serpiginosa) AnnotationAssertion( "MIM:130100"^^xsd:string) AnnotationAssertion( "MESH:C536202"^^xsd:string) AnnotationAssertion( "Elastoma intrapapillare perforans verruciformis"^^xsd:string) AnnotationAssertion( "Miescher elastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002790"^^xsd:string) AnnotationAssertion(rdfs:label "Elastosis Perforans Serpiginosa"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Epilepsy, and Diabetes Syndrome) AnnotationAssertion( "MIM:PS614231"^^xsd:string) AnnotationAssertion( "MEDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002791"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Epilepsy, and Diabetes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1 Ring) AnnotationAssertion( "MESH:C535361"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002792"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1 Ring"^^xsd:string) SubClassOf( ) # Class: (Camptodactyly 1) AnnotationAssertion( "MIM:114200"^^xsd:string) AnnotationAssertion( "MESH:C567780"^^xsd:string) AnnotationAssertion( "CAMPD1"^^xsd:string) AnnotationAssertion( "Camptodactyly And Knuckle Pads"^^xsd:string) AnnotationAssertion( "CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002793"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly 1"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-13T18:33:43Z"^^xsd:string) AnnotationAssertion( "DHX37-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618731"^^xsd:string) AnnotationAssertion( "NEDBAVC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002794"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy) AnnotationAssertion( "A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:615760"^^xsd:string) AnnotationAssertion( "MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY"^^xsd:string) AnnotationAssertion( "MSCCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002795"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Benign Recurrent Vertigo 2) AnnotationAssertion( "MIM:613106"^^xsd:string) AnnotationAssertion( "MESH:C567749"^^xsd:string) AnnotationAssertion( "BRV2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002796"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Recurrent Vertigo 2"^^xsd:string) SubClassOf( ) # Class: (Florid Cystic Endosalpingiosis of the Uterus) AnnotationAssertion( "RDO:0002827"^^xsd:string) AnnotationAssertion( "MESH:C537064"^^xsd:string) AnnotationAssertion( "Cystic endosalpingiosis of the uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002797"^^xsd:string) AnnotationAssertion(rdfs:label "Florid Cystic Endosalpingiosis of the Uterus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Macrophage Activation Syndrome) AnnotationAssertion(Annotation( "MESH:D055501"^^xsd:string) "A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS."^^xsd:string) AnnotationAssertion( "EFO:1001806"^^xsd:string) AnnotationAssertion( "MESH:D055501"^^xsd:string) AnnotationAssertion( "RDO:0007709"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002798"^^xsd:string) AnnotationAssertion(rdfs:label "Macrophage Activation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Popliteal Pterygium Syndrome) AnnotationAssertion( "MESH:C535891"^^xsd:string) AnnotationAssertion( "Lewis Pashayan syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002799"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Popliteal Pterygium Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infantile Polymyoclonus) AnnotationAssertion( "MESH:C535524"^^xsd:string) AnnotationAssertion( "MIM:263550"^^xsd:string) AnnotationAssertion( "MONDO:0009896"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002800"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Polymyoclonus"^^xsd:string) SubClassOf( ) # Class: (Recurrence) AnnotationAssertion(Annotation( "MESH:D012008"^^xsd:string) "The return of a sign, symptom, or disease after a remission."^^xsd:string) AnnotationAssertion( "EFO:0004952"^^xsd:string) AnnotationAssertion( "MESH:D012008"^^xsd:string) AnnotationAssertion( "Recrudescence"^^xsd:string) AnnotationAssertion( "Recrudescences"^^xsd:string) AnnotationAssertion( "Recurrences"^^xsd:string) AnnotationAssertion( "Relapse"^^xsd:string) AnnotationAssertion( "Relapses"^^xsd:string) AnnotationAssertion( "disease recurrence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002801"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrence"^^xsd:string) SubClassOf( ) # Class: (Acidoses) AnnotationAssertion( "A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up."^^xsd:string) AnnotationAssertion( "EFO:1000014"^^xsd:string) AnnotationAssertion( "MESH:D000138"^^xsd:string) AnnotationAssertion( "acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002802"^^xsd:string) AnnotationAssertion(rdfs:label "Acidoses"^^xsd:string) SubClassOf( ) # Class: (Chronic Exertional Compartment Syndrome) AnnotationAssertion( "Compartment syndrome characterized by pain in muscle groups with elevated compartment pressures due most often exercise training in athletes. Most often encountered chronic exertional compartment syndrome is in the anterior or deep posterior compartments of the lower leg in athletes in training similar to POPLITEAL ARTERY ENTRAPMENT SYNDROME. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T21:23:05Z"^^xsd:string) AnnotationAssertion( "MESH:D000083182"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002803"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Exertional Compartment Syndrome"^^xsd:string) SubClassOf( ) # Class: (Amaurosis Fugax) AnnotationAssertion(Annotation( "MESH:D020757"^^xsd:string) "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)"^^xsd:string) AnnotationAssertion( "MESH:D020757"^^xsd:string) AnnotationAssertion( "RDO:0007423"^^xsd:string) AnnotationAssertion( "Transient Monocular Blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002804"^^xsd:string) AnnotationAssertion(rdfs:label "Amaurosis Fugax"^^xsd:string) SubClassOf( ) # Class: (Enterocolitis) AnnotationAssertion(Annotation( "MESH:D004760"^^xsd:string) "Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses."^^xsd:string) AnnotationAssertion( "MIM:226150"^^xsd:string) AnnotationAssertion( "EFO:1001481"^^xsd:string) AnnotationAssertion( "MESH:D004760"^^xsd:string) AnnotationAssertion( "enterocolitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002805"^^xsd:string) AnnotationAssertion(rdfs:label "Enterocolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acquired Pulmonary Alveolar Proteinosis) AnnotationAssertion( "MIM:610910"^^xsd:string) AnnotationAssertion( "MESH:C567049"^^xsd:string) AnnotationAssertion( "NCI:C202011"^^xsd:string) AnnotationAssertion( "Pulmonary Alveolar Lipoproteinosis, Acquired"^^xsd:string) AnnotationAssertion( "Pulmonary Alveolar Proteinosis, Autoimmune"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002806"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Pulmonary Alveolar Proteinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fryns Macrocephaly) AnnotationAssertion( "MIM:600302"^^xsd:string) AnnotationAssertion( "MESH:C563963"^^xsd:string) AnnotationAssertion( "Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002807"^^xsd:string) AnnotationAssertion(rdfs:label "Fryns Macrocephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Heart Defects, Multiple Types, 4) AnnotationAssertion( "MIM:615779"^^xsd:string) AnnotationAssertion( "CHTD4"^^xsd:string) AnnotationAssertion( "multiple types of congenital heart defects 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002809"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 4"^^xsd:string) SubClassOf( ) # Class: (Gastrointestinal Defects and Immunodeficiency Syndrome 2) AnnotationAssertion(Annotation( "MIM:619708"^^xsd:string) "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Caused by homozygous mutation in the PI4KA gene on chromosome 22q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-27T09:49:48Z"^^xsd:string) AnnotationAssertion( "MIM:619708"^^xsd:string) AnnotationAssertion( "GIDID2"^^xsd:string) AnnotationAssertion( "multiple intestinal atresia with or without leukopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002810"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrointestinal Defects and Immunodeficiency Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Facial Dysmorphism with Multiple Malformations) AnnotationAssertion( "MIM:227255"^^xsd:string) AnnotationAssertion( "MESH:C565579"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002811"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Dysmorphism with Multiple Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Elevated Adenosine Triphosphate of Erythrocytes) AnnotationAssertion(Annotation( "EFO:0005840"^^xsd:string) "Autosomal dominant phenotype characterized by increase of red blood cell ATP."^^xsd:string) AnnotationAssertion( "MIM:102900"^^xsd:string) AnnotationAssertion( "PKLR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0005840"^^xsd:string) AnnotationAssertion( "MESH:C566310"^^xsd:string) AnnotationAssertion( "PKHYP"^^xsd:string) AnnotationAssertion( "Pyruvate Kinase Hyperactivity"^^xsd:string) AnnotationAssertion( "adenosine triphosphate, elevated, of erythrocytes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002812"^^xsd:string) AnnotationAssertion(rdfs:label "Elevated Adenosine Triphosphate of Erythrocytes"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group R) AnnotationAssertion( "MESH:C566635"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002813"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group R"^^xsd:string) SubClassOf( ) # Class: (Glycogen Storage Disease IIIC) AnnotationAssertion( "MESH:C566891"^^xsd:string) AnnotationAssertion( "GSD IIIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002814"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease IIIC"^^xsd:string) SubClassOf( ) # Class: (Generalized Severe Epidermolysis Bullosa Simplex 2A) AnnotationAssertion( "An autosomal dominant skin disorder characterized by extensive intraepidermal blistering after minor mechanical stress since birth with herpetiform marginal spreading and central healing. Caused by heterozygous mutation in the KRT5 gene on chromosome 12q13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T11:51:09Z"^^xsd:string) AnnotationAssertion( "MIM:619555"^^xsd:string) AnnotationAssertion( "EBS2A"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 2A, Dowling-Meara type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002815"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Severe Epidermolysis Bullosa Simplex 2A"^^xsd:string) SubClassOf( ) # Class: (CHOPRA-AMIEL-GORDON SYNDROME) AnnotationAssertion(Annotation( "MIM:619504"^^xsd:string) "This disease is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-15T13:47:57Z"^^xsd:string) AnnotationAssertion( "MIM:619504"^^xsd:string) AnnotationAssertion( "CAGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002816"^^xsd:string) AnnotationAssertion(rdfs:label "CHOPRA-AMIEL-GORDON SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands) AnnotationAssertion( "MESH:C537354"^^xsd:string) AnnotationAssertion( "Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002817"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands"^^xsd:string) SubClassOf( ) # Class: (Degloving Injuries) AnnotationAssertion(Annotation( "MESH:D000069836"^^xsd:string) "Avulsions of the superficial tissues of SKIN and SUBCUTANEOUS TISSUE from the underlying FASCIA."^^xsd:string) AnnotationAssertion( "MESH:D000069836"^^xsd:string) AnnotationAssertion( "RDO:0016081"^^xsd:string) AnnotationAssertion( "Degloving Injury"^^xsd:string) AnnotationAssertion( "Degloving Wound"^^xsd:string) AnnotationAssertion( "Degloving Wounds"^^xsd:string) AnnotationAssertion( "Skin Avulsion"^^xsd:string) AnnotationAssertion( "Skin Avulsion Injuries"^^xsd:string) AnnotationAssertion( "Skin Avulsion Injury"^^xsd:string) AnnotationAssertion( "Skin Avulsions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002818"^^xsd:string) AnnotationAssertion(rdfs:label "Degloving Injuries"^^xsd:string) SubClassOf( ) # Class: (Coronary Occlusion) AnnotationAssertion(Annotation( "MESH:D054059"^^xsd:string) "Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS."^^xsd:string) AnnotationAssertion( "MESH:D054059"^^xsd:string) AnnotationAssertion( "Coronary Occlusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002819"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Occlusion"^^xsd:string) SubClassOf( ) # Class: (Adams Nance Syndrome) AnnotationAssertion( "MESH:C538224"^^xsd:string) AnnotationAssertion( "Tachycardia hypertension microphthalmos hyperglycinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002820"^^xsd:string) AnnotationAssertion(rdfs:label "Adams Nance Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bifid Femur with Monodactylous Ectrodactyly) AnnotationAssertion( "MIM:228250"^^xsd:string) AnnotationAssertion( "MESH:C537917"^^xsd:string) AnnotationAssertion( "Gollop-Wolfgang complex"^^xsd:string) AnnotationAssertion( "Unilateral Bifid Femur with Monodactylous Ectrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002821"^^xsd:string) AnnotationAssertion(rdfs:label "Bifid Femur with Monodactylous Ectrodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis) AnnotationAssertion( "RDO:0014665"^^xsd:string) AnnotationAssertion( "MESH:C566263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002822"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gram-Positive Bacterial Infections) AnnotationAssertion(Annotation( "MESH:D016908"^^xsd:string) "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method."^^xsd:string) AnnotationAssertion( "EFO:0000780"^^xsd:string) AnnotationAssertion( "MESH:D016908"^^xsd:string) AnnotationAssertion( "Gram-Positive Bacterial Infection"^^xsd:string) AnnotationAssertion( "Enterococcus faecalis infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002823"^^xsd:string) AnnotationAssertion(rdfs:label "Gram-Positive Bacterial Infections"^^xsd:string) SubClassOf( ) # Class: (Vaginal Fistula) AnnotationAssertion(Annotation( "MESH:D014624"^^xsd:string) "An abnormal anatomical passage that connects the VAGINA to other organs, such as the bladder (VESICOVAGINAL FISTULA) or the rectum (RECTOVAGINAL FISTULA)."^^xsd:string) AnnotationAssertion( "EFO:0009524"^^xsd:string) AnnotationAssertion( "MESH:D014624"^^xsd:string) AnnotationAssertion( "Vaginal Fistulas"^^xsd:string) AnnotationAssertion( "female genital tract fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002824"^^xsd:string) AnnotationAssertion(rdfs:label "Vaginal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leichtman Wood Rohn Syndrome) AnnotationAssertion( "MESH:C537003"^^xsd:string) AnnotationAssertion( "RDO:0002742"^^xsd:string) AnnotationAssertion( "Anophthalmia, cleft lip-palate, facial anomalies, and CNS anomalies and hypothalamic disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002825"^^xsd:string) AnnotationAssertion(rdfs:label "Leichtman Wood Rohn Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty) AnnotationAssertion( "MESH:C567168"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002826"^^xsd:string) AnnotationAssertion(rdfs:label "Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Porcine Postweaning Multisystemic Wasting Syndrome) AnnotationAssertion(Annotation( "MESH:D053570"^^xsd:string) "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by PORCINE CIRCOVIRUS infection, specifically type 2 or PCV-2."^^xsd:string) AnnotationAssertion( "EFO:1000048"^^xsd:string) AnnotationAssertion( "MESH:D053570"^^xsd:string) AnnotationAssertion( "RDO:0007625"^^xsd:string) AnnotationAssertion( "postweaning multisystemic wasting syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002827"^^xsd:string) AnnotationAssertion(rdfs:label "Porcine Postweaning Multisystemic Wasting Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Trifunctional Protein Deficiency 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T08:48:35Z"^^xsd:string) AnnotationAssertion( "MIM:620300"^^xsd:string) AnnotationAssertion( "HADHB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MTPD2"^^xsd:string) AnnotationAssertion( "trifunctional protein deficiency, type 2"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002828"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Trifunctional Protein Deficiency 2"^^xsd:string) SubClassOf( ) # Class: (Ciuffo Syndrome) AnnotationAssertion( "MIM:178650"^^xsd:string) AnnotationAssertion( "MESH:C566733"^^xsd:string) AnnotationAssertion( "Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002829"^^xsd:string) AnnotationAssertion(rdfs:label "Ciuffo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondylometaphyseal Dysplasia Pagnamenta Type) AnnotationAssertion(Annotation( "MIM:619638"^^xsd:string) "Characterized by short stature and mild platyspondyly with no disproportion between the limbs. Caused by homozygous mutation in the PRKG2 gene on chromosome 4q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-30T10:20:38Z"^^xsd:string) AnnotationAssertion( "MIM:619638"^^xsd:string) AnnotationAssertion( "SMDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002830"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylometaphyseal Dysplasia Pagnamenta Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Exertional Myalgia, Muscle Stiffness and Myoglobinuria) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002833"^^xsd:string) AnnotationAssertion(rdfs:label "Exertional Myalgia, Muscle Stiffness and Myoglobinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Herpesviridae Infections) AnnotationAssertion(Annotation( "MESH:D006566"^^xsd:string) "Virus diseases caused by the HERPESVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007309"^^xsd:string) AnnotationAssertion( "MESH:D006566"^^xsd:string) AnnotationAssertion( "RDO:0005189"^^xsd:string) AnnotationAssertion( "Herpesviridae Infection"^^xsd:string) AnnotationAssertion( "Herpesviridae infectious disease"^^xsd:string) AnnotationAssertion( "Herpesvirus Infection"^^xsd:string) AnnotationAssertion( "Herpesvirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002834"^^xsd:string) AnnotationAssertion(rdfs:label "Herpesviridae Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ape Diseases) AnnotationAssertion(Annotation( "MESH:D018420"^^xsd:string) "Diseases of chimpanzees, gorillas, and orangutans."^^xsd:string) AnnotationAssertion( "MESH:D018420"^^xsd:string) AnnotationAssertion( "RDO:0007197"^^xsd:string) AnnotationAssertion( "Ape Disease"^^xsd:string) AnnotationAssertion( "Pongidae Disease"^^xsd:string) AnnotationAssertion( "Pongidae Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002837"^^xsd:string) AnnotationAssertion(rdfs:label "Ape Diseases"^^xsd:string) SubClassOf( ) # Class: (Muscle Diastasis) AnnotationAssertion(Annotation( "MESH:D000070630"^^xsd:string) "Abnormal separation of muscles."^^xsd:string) AnnotationAssertion( "MESH:D000070630"^^xsd:string) AnnotationAssertion( "Muscle Diastases"^^xsd:string) AnnotationAssertion( "Myodiastases"^^xsd:string) AnnotationAssertion( "Myodiastasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002838"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Diastasis"^^xsd:string) SubClassOf( ) # Class: (Rahman Syndrome) AnnotationAssertion(Annotation( "MIM:617537"^^xsd:string) "This is a disease characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617537"^^xsd:string) AnnotationAssertion( "HIST1H1E-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES"^^xsd:string) AnnotationAssertion( "RMNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002839"^^xsd:string) AnnotationAssertion(rdfs:label "Rahman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Endometrial Hyperplasia without Atypia) AnnotationAssertion(Annotation( "NCI:C40157"^^xsd:string) "This disease is simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-20T12:57:20Z"^^xsd:string) AnnotationAssertion( "EFO:1000234"^^xsd:string) AnnotationAssertion( "typical endometrial hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002840"^^xsd:string) AnnotationAssertion(rdfs:label "Endometrial Hyperplasia without Atypia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Phacomatosis Pigmentovascularis) AnnotationAssertion( "MESH:C537894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002842"^^xsd:string) AnnotationAssertion(rdfs:label "Phacomatosis Pigmentovascularis"^^xsd:string) SubClassOf( ) # Class: (Waardenburg Syndrome Type 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-06T10:34:10Z"^^xsd:string) AnnotationAssertion( "NCI:C75009"^^xsd:string) AnnotationAssertion( "WS2"^^xsd:string) AnnotationAssertion( "WAARDENBURG SYNDROME TYPE 2D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002843"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg Syndrome Type 2"^^xsd:string) SubClassOf( ) # Class: (Bunion, Tailor's) AnnotationAssertion(Annotation( "MESH:D050489"^^xsd:string) "Abnormal swelling of the outer aspect of the fifth metatarsal head affecting the fifth METATARSOPHALANGEAL JOINT."^^xsd:string) AnnotationAssertion( "MESH:D050489"^^xsd:string) AnnotationAssertion( "Bunionette"^^xsd:string) AnnotationAssertion( "Bunionettes"^^xsd:string) AnnotationAssertion( "Tailor's Bunions"^^xsd:string) AnnotationAssertion( "Tailors Bunion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002844"^^xsd:string) AnnotationAssertion(rdfs:label "Bunion, Tailor's"^^xsd:string) SubClassOf( ) # Class: (Astroviridae Infections) AnnotationAssertion(Annotation( "MESH:D019350"^^xsd:string) "Infections with ASTROVIRUS, causing gastroenteritis in human infants, calves, lambs, and piglets."^^xsd:string) AnnotationAssertion( "EFO:0007158"^^xsd:string) AnnotationAssertion( "MESH:D019350"^^xsd:string) AnnotationAssertion( "RDO:0007271"^^xsd:string) AnnotationAssertion( "Astroviridae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002845"^^xsd:string) AnnotationAssertion(rdfs:label "Astroviridae Infections"^^xsd:string) SubClassOf( ) # Class: (bowenoid papulosis) AnnotationAssertion(Annotation( "PMID:28667573"^^xsd:string) "This disease is characterized by multiple maculopapular lesions that can form brownish plaques anywhere in the anogenital region. It is a rare, highly contagious sexually-transmitted infection associated with HPV-16 or other less frequent HPV subtype."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-07-07T16:19:57Z"^^xsd:string) AnnotationAssertion( "BP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002846"^^xsd:string) AnnotationAssertion(rdfs:label "bowenoid papulosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Serositis) AnnotationAssertion(Annotation( "MESH:D012700"^^xsd:string) "Inflammation of a serous membrane."^^xsd:string) AnnotationAssertion( "MESH:D012700"^^xsd:string) AnnotationAssertion( "Serositides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002847"^^xsd:string) AnnotationAssertion(rdfs:label "Serositis"^^xsd:string) SubClassOf( ) # Class: (Familial Atrial Fibrillation 9) AnnotationAssertion( "MIM:613980"^^xsd:string) AnnotationAssertion( "ATFB9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002848"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 9"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immediate Hypersensitivity) AnnotationAssertion(Annotation( "MESH:D006969"^^xsd:string) "Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability."^^xsd:string) AnnotationAssertion( "RDO:0001896"^^xsd:string) AnnotationAssertion( "MESH:D006969"^^xsd:string) AnnotationAssertion( "Atopic Hypersensitivities"^^xsd:string) AnnotationAssertion( "Atopic Hypersensitivity"^^xsd:string) AnnotationAssertion( "IgE Mediated Hypersensitivity"^^xsd:string) AnnotationAssertion( "IgE-Mediated Hypersensitivities"^^xsd:string) AnnotationAssertion( "Immediate Hypersensitivities"^^xsd:string) AnnotationAssertion( "Type I Hypersensitivities"^^xsd:string) AnnotationAssertion( "Type I Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002850"^^xsd:string) AnnotationAssertion(rdfs:label "Immediate Hypersensitivity"^^xsd:string) SubClassOf( ) # Class: (Medullary Sponge Kidney) AnnotationAssertion(Annotation( "MESH:D007691"^^xsd:string) "A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES."^^xsd:string) AnnotationAssertion( "MESH:D007691"^^xsd:string) AnnotationAssertion( "RDO:0000163"^^xsd:string) AnnotationAssertion( "Cacchi Ricci Disease"^^xsd:string) AnnotationAssertion( "Cacchi Ricci Syndrome"^^xsd:string) AnnotationAssertion( "Medullary Sponge Kidneys"^^xsd:string) AnnotationAssertion( "Precalyceal Canalicular Ectasia"^^xsd:string) AnnotationAssertion( "Precalyceal Canalicular Ectasias"^^xsd:string) AnnotationAssertion( "Sponge Kidney"^^xsd:string) AnnotationAssertion( "Sponge Kidneys"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002851"^^xsd:string) AnnotationAssertion(rdfs:label "Medullary Sponge Kidney"^^xsd:string) SubClassOf( ) # Class: (Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders) AnnotationAssertion( "MIM:604363"^^xsd:string) AnnotationAssertion( "MESH:C565786"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002852"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis) AnnotationAssertion(Annotation( "MIM:616834"^^xsd:string) "An inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols."^^xsd:string) AnnotationAssertion( "MIM:616834"^^xsd:string) AnnotationAssertion( "MCCPD"^^xsd:string) AnnotationAssertion( "MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS"^^xsd:string) AnnotationAssertion( "SC4MOL DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002853"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia) AnnotationAssertion( "MIM:613563"^^xsd:string) AnnotationAssertion( "CBL SYNDROME"^^xsd:string) AnnotationAssertion( "CBL mutation-associated syndrome"^^xsd:string) AnnotationAssertion( "NSLL"^^xsd:string) AnnotationAssertion( "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002854"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vascular Headaches) AnnotationAssertion(Annotation( "MESH:D014653"^^xsd:string) "Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS."^^xsd:string) AnnotationAssertion( "MESH:D014653"^^xsd:string) AnnotationAssertion( "RDO:0006805"^^xsd:string) AnnotationAssertion( "Vascular Cephalgia"^^xsd:string) AnnotationAssertion( "Vascular Cephalgias"^^xsd:string) AnnotationAssertion( "Vascular Headache"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002855"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Headaches"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cutaneous Telangiectasia and Cancer Syndrome, Familial) AnnotationAssertion( "ATR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614564"^^xsd:string) AnnotationAssertion( "MONDO:0013806"^^xsd:string) AnnotationAssertion( "ORDO:313846"^^xsd:string) AnnotationAssertion( "FCTCS"^^xsd:string) AnnotationAssertion( "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002856"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Telangiectasia and Cancer Syndrome, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T14:49:36Z"^^xsd:string) AnnotationAssertion( "MIM:PS616418"^^xsd:string) AnnotationAssertion( "Hypomagnesemia, Seizures, and Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002857"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sclerema Neonatorum) AnnotationAssertion(Annotation( "MESH:D012593"^^xsd:string) "A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated infants suffering from an underlying illness and manifested by a diffuse, nonpitting induration of the affected tissue. The skin becomes cold, yellowish, mottled, and inflexible."^^xsd:string) AnnotationAssertion( "MESH:D012593"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002858"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerema Neonatorum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's Disease 13) AnnotationAssertion( "RDO:0009413"^^xsd:string) AnnotationAssertion( "HTRA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565204"^^xsd:string) AnnotationAssertion( "MIM:610297"^^xsd:string) AnnotationAssertion( "RDO:0013914"^^xsd:string) AnnotationAssertion( "PARK13"^^xsd:string) AnnotationAssertion( "Parkinson Disease 13"^^xsd:string) AnnotationAssertion( "Parkinson disease 13, autosomal dominant"^^xsd:string) AnnotationAssertion( "Parkinson's disease 13, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PARKINSON DISEASE 13, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PARKINSON'S DISEASE 13, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Parkinson Disease 13, Autosomal Dominant, Susceptibility To"^^xsd:string) AnnotationAssertion( "Parkinson's Disease 13, Autosomal Dominant, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9002859"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 13"^^xsd:string) SubClassOf( ) # Class: (Cardiac Edema) AnnotationAssertion(Annotation( "MESH:D004489"^^xsd:string) "Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)."^^xsd:string) AnnotationAssertion( "EFO:1001771"^^xsd:string) AnnotationAssertion( "MESH:D004489"^^xsd:string) AnnotationAssertion( "Cardiac Edemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002860"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Edema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Capillary Malformation-Arteriovenous Malformation 2) AnnotationAssertion(Annotation( "MIM:618196"^^xsd:string) "An autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T10:13:24Z"^^xsd:string) AnnotationAssertion( "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM"^^xsd:string) AnnotationAssertion( "EPHB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EPHB4-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:618196"^^xsd:string) AnnotationAssertion( "CMAVM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002861"^^xsd:string) AnnotationAssertion(rdfs:label "Capillary Malformation-Arteriovenous Malformation 2"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis 3) AnnotationAssertion( "MIM:615314"^^xsd:string) AnnotationAssertion( "CRS3"^^xsd:string) AnnotationAssertion( "coronal craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002862"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis 3"^^xsd:string) SubClassOf( ) # Class: (Corneal Endothelial Cell Loss) AnnotationAssertion(Annotation( "MESH:D055954"^^xsd:string) "Loss of CORNEAL ENDOTHELIUM usually following intraocular surgery (e.g., cataract surgery) or due to FUCHS' ENDOTHELIAL DYSTROPHY; ANGLE-CLOSURE GLAUCOMA; IRITIS; or aging."^^xsd:string) AnnotationAssertion( "MESH:D055954"^^xsd:string) AnnotationAssertion( "RDO:0007727"^^xsd:string) AnnotationAssertion( "Corneal Endothelial Cell Damage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002863"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Endothelial Cell Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neonatal Hemochromatosis) AnnotationAssertion( "MIM:231100"^^xsd:string) AnnotationAssertion( "GARD:7172"^^xsd:string) AnnotationAssertion( "MESH:C536394"^^xsd:string) AnnotationAssertion( "MONDO:0009275"^^xsd:string) AnnotationAssertion( "NCI:C129980"^^xsd:string) AnnotationAssertion( "ORDO:446"^^xsd:string) AnnotationAssertion( "NH"^^xsd:string) AnnotationAssertion( "NHC"^^xsd:string) AnnotationAssertion( "congenital alloimmune hepatitis"^^xsd:string) AnnotationAssertion( "idiopathic neonatal hemochromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "giant cell hepatitis"^^xsd:string) AnnotationAssertion( "neonatal hepatitis"^^xsd:string) AnnotationAssertion( "DOID:9002865"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Hemochromatosis"^^xsd:string) SubClassOf( ) # Class: (Familial Multiple Coagulation Factor Deficiency II) AnnotationAssertion( "MIM:134510"^^xsd:string) AnnotationAssertion( "MESH:C565024"^^xsd:string) AnnotationAssertion( "F8F9D"^^xsd:string) AnnotationAssertion( "FMFD II"^^xsd:string) AnnotationAssertion( "Factor VIII And Factor IX, Combined Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002866"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Coagulation Factor Deficiency II"^^xsd:string) SubClassOf( ) # Class: (Myeloid Leukemia, Chronic-Phase) AnnotationAssertion(Annotation( "MESH:D015466"^^xsd:string) "The initial phase of chronic myeloid leukemia consisting of an relatively indolent period lasting from 4 to 7 years. Patients range from asymptomatic to those exhibiting ANEMIA; SPLENOMEGALY; and increased cell turnover. There are 5% or fewer blast cells in the blood and bone marrow in this phase."^^xsd:string) AnnotationAssertion( "MESH:D015466"^^xsd:string) AnnotationAssertion( "Chronic Granulocytic Leukemia, Stable Phase"^^xsd:string) AnnotationAssertion( "Chronic Myelogenous Leukemia, Chronic Phase"^^xsd:string) AnnotationAssertion( "Chronic Myeloid Leukemia, Chronic Phase"^^xsd:string) AnnotationAssertion( "Chronic Myeloid Leukemia, Stable-Phase"^^xsd:string) AnnotationAssertion( "Granulocytic Leukemia, Chronic Phase"^^xsd:string) AnnotationAssertion( "Myelogenous Leukemia, Chronic Phase"^^xsd:string) AnnotationAssertion( "Myeloid Leukemia, Stable Phase"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002867"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloid Leukemia, Chronic-Phase"^^xsd:string) SubClassOf( ) # Class: (Lactate Dehydrogenase B Deficiency) AnnotationAssertion( "MIM:614128"^^xsd:string) AnnotationAssertion( "MESH:C563641"^^xsd:string) AnnotationAssertion( "LDHBD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002868"^^xsd:string) AnnotationAssertion(rdfs:label "Lactate Dehydrogenase B Deficiency"^^xsd:string) SubClassOf( ) # Class: (Schistosomiasis Mansoni) AnnotationAssertion(Annotation( "MESH:D012555"^^xsd:string) "Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver."^^xsd:string) AnnotationAssertion( "MIM:181460"^^xsd:string) AnnotationAssertion( "EFO:1001420"^^xsd:string) AnnotationAssertion( "MESH:D012555"^^xsd:string) AnnotationAssertion( "NCI:C35002"^^xsd:string) AnnotationAssertion( "SM1"^^xsd:string) AnnotationAssertion( "Schistosoma mansoni infection"^^xsd:string) AnnotationAssertion( "Schistosoma mansoni infections"^^xsd:string) AnnotationAssertion( "schistosoma mansoni infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "schistosoma mansoni infection, susceptibility/resistance to"^^xsd:string) AnnotationAssertion( "schistosoma mansoni, intensity of infection by"^^xsd:string) AnnotationAssertion( "DOID:9002869"^^xsd:string) AnnotationAssertion(rdfs:label "Schistosomiasis Mansoni"^^xsd:string) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 20) AnnotationAssertion(Annotation( "MIM:620383"^^xsd:string) "A disease characterized by early embryonic arrest with fragmentation. Caused by homozygous or compound heterozygous mutation in the MOS gene on chromosome 8q12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T14:46:21Z"^^xsd:string) AnnotationAssertion( "MIM:620383"^^xsd:string) AnnotationAssertion( "OZEMA20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002870"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 20"^^xsd:string) SubClassOf( ) # Class: (Erythema Palmare Hereditarium) AnnotationAssertion( "MIM:133000"^^xsd:string) AnnotationAssertion( "MESH:C565041"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002871"^^xsd:string) AnnotationAssertion(rdfs:label "Erythema Palmare Hereditarium"^^xsd:string) SubClassOf( ) # Class: (Popov-Chang Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T12:23:14Z"^^xsd:string) AnnotationAssertion( "NEDISDF"^^xsd:string) AnnotationAssertion( "POPCHAS"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with impaired speech and dysmorphic features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002872"^^xsd:string) AnnotationAssertion(rdfs:label "Popov-Chang Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adrenal Incidentaloma) AnnotationAssertion( "MESH:C538238"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002873"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Incidentaloma"^^xsd:string) SubClassOf( ) # Class: (Liver Fibrocystic Disease and Polydactyly) AnnotationAssertion( "MIM:605944"^^xsd:string) AnnotationAssertion( "MESH:C565272"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002874"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Fibrocystic Disease and Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN) AnnotationAssertion(Annotation( "MIM:619769"^^xsd:string) "This disease is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-05-03T14:23:34Z"^^xsd:string) AnnotationAssertion( "MIM:619769"^^xsd:string) AnnotationAssertion( "MNDLFH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002875"^^xsd:string) AnnotationAssertion(rdfs:label "MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Pseudocyst) AnnotationAssertion(Annotation( "MESH:D010192"^^xsd:string) "Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS."^^xsd:string) AnnotationAssertion( "MESH:D010192"^^xsd:string) AnnotationAssertion( "Pancreatic Pseudocysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002876"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Pseudocyst"^^xsd:string) SubClassOf( ) # Class: (Parkinson's Disease, Mitochondrial) AnnotationAssertion( "MIM:556500"^^xsd:string) AnnotationAssertion( "MESH:C564015"^^xsd:string) AnnotationAssertion( "RDO:0013117"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Mitochondrial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002877"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease, Mitochondrial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cephalopelvic Disproportion) AnnotationAssertion(Annotation( "MESH:D052178"^^xsd:string) "A condition in which the HEAD of the FETUS is larger than the mother's PELVIS through which the fetal head must pass during a vaginal delivery."^^xsd:string) AnnotationAssertion( "MESH:D052178"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002878"^^xsd:string) AnnotationAssertion(rdfs:label "Cephalopelvic Disproportion"^^xsd:string) SubClassOf( ) # Class: (Juvenile Spring Eruption of Ears) AnnotationAssertion( "RDO:0015034"^^xsd:string) AnnotationAssertion( "MESH:C566781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002879"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Spring Eruption of Ears"^^xsd:string) SubClassOf( ) # Class: (Psoas Abscess) AnnotationAssertion(Annotation( "MESH:D016659"^^xsd:string) "Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal."^^xsd:string) AnnotationAssertion( "EFO:1001832"^^xsd:string) AnnotationAssertion( "MESH:D016659"^^xsd:string) AnnotationAssertion( "Iliopsoas Abscess"^^xsd:string) AnnotationAssertion( "Iliopsoas Abscesses"^^xsd:string) AnnotationAssertion( "Psoas Abscesses"^^xsd:string) AnnotationAssertion( "Pyogenic Iliopsoas Abscess"^^xsd:string) AnnotationAssertion( "Pyogenic Iliopsoas Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002880"^^xsd:string) AnnotationAssertion(rdfs:label "Psoas Abscess"^^xsd:string) SubClassOf( ) # Class: (Cyclic Vomiting Syndrome-Plus) AnnotationAssertion( "MESH:C564023"^^xsd:string) AnnotationAssertion( "CVS-Plus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002881"^^xsd:string) AnnotationAssertion(rdfs:label "Cyclic Vomiting Syndrome-Plus"^^xsd:string) SubClassOf( ) # Class: (Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency) AnnotationAssertion( "MIM:609016"^^xsd:string) AnnotationAssertion( "HADHA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HADHA-related disorder"^^xsd:string) AnnotationAssertion( "GARD:6867"^^xsd:string) AnnotationAssertion( "MESH:C535690"^^xsd:string) AnnotationAssertion( "NCI:C129929"^^xsd:string) AnnotationAssertion( "ORDO:5"^^xsd:string) AnnotationAssertion( "LCHAD deficiency"^^xsd:string) AnnotationAssertion( "LCHAD deficiency with maternal acute fatty liver of pregnancy"^^xsd:string) AnnotationAssertion( "deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase"^^xsd:string) AnnotationAssertion( "deficiency of long-chain acyl-CoA dehydrogenase"^^xsd:string) AnnotationAssertion( "long-chain acyl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002882"^^xsd:string) AnnotationAssertion(rdfs:label "Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Aortic Aneurysm, Giant Congenital) AnnotationAssertion( "MESH:C565758"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002883"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Aneurysm, Giant Congenital"^^xsd:string) SubClassOf( ) # Class: (Emphysema) AnnotationAssertion(Annotation( "MESH:D004646"^^xsd:string) "A pathological accumulation of air in tissues or organs."^^xsd:string) AnnotationAssertion( "MESH:D004646"^^xsd:string) AnnotationAssertion( "RDO:0005460"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Emphysema, susceptibility to"^^xsd:string) AnnotationAssertion( "PI I"^^xsd:string) AnnotationAssertion( "PI M(MALTON)"^^xsd:string) AnnotationAssertion( "PI M(MINERAL SPRINGS)"^^xsd:string) AnnotationAssertion( "PI M(PROCIDA)"^^xsd:string) AnnotationAssertion( "PI NULL(HONG KONG 1)"^^xsd:string) AnnotationAssertion( "PI Q0(HONG KONG 1)"^^xsd:string) AnnotationAssertion( "PI S"^^xsd:string) AnnotationAssertion( "DOID:9002884"^^xsd:string) AnnotationAssertion(rdfs:label "Emphysema"^^xsd:string) SubClassOf( ) # Class: (Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation) AnnotationAssertion( "MIM:603133"^^xsd:string) AnnotationAssertion( "MESH:C566408"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002885"^^xsd:string) AnnotationAssertion(rdfs:label "Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Auditory Perceptual Disorders) AnnotationAssertion(Annotation( "MESH:D001308"^^xsd:string) "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech."^^xsd:string) AnnotationAssertion( "MESH:D001308"^^xsd:string) AnnotationAssertion( "Acoustic Perceptual Disorder"^^xsd:string) AnnotationAssertion( "Acoustic Perceptual Disorders"^^xsd:string) AnnotationAssertion( "Auditory Comprehension Disorder"^^xsd:string) AnnotationAssertion( "Auditory Comprehension Disorders"^^xsd:string) AnnotationAssertion( "Auditory Inattention"^^xsd:string) AnnotationAssertion( "Auditory Inattentions"^^xsd:string) AnnotationAssertion( "Auditory Perceptual Disorder"^^xsd:string) AnnotationAssertion( "Auditory Processing Disorder"^^xsd:string) AnnotationAssertion( "Auditory Processing Disorders"^^xsd:string) AnnotationAssertion( "Psychoacoustical Disorder"^^xsd:string) AnnotationAssertion( "Psychoacoustical Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002886"^^xsd:string) AnnotationAssertion(rdfs:label "Auditory Perceptual Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Monday Morning Fever) AnnotationAssertion( "MESH:C531641"^^xsd:string) AnnotationAssertion( "RDO:0000069"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002887"^^xsd:string) AnnotationAssertion(rdfs:label "Monday Morning Fever"^^xsd:string) SubClassOf( ) # Class: (Duodenal Ulcer due to Antral G-Cell Hyperfunction) AnnotationAssertion( "MIM:126840"^^xsd:string) AnnotationAssertion( "MESH:C535721"^^xsd:string) AnnotationAssertion( "Hypergastrinemic, hyperpepsinogenemic duodenal ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002888"^^xsd:string) AnnotationAssertion(rdfs:label "Duodenal Ulcer due to Antral G-Cell Hyperfunction"^^xsd:string) SubClassOf( ) # Class: (Jaffer Beighton Syndrome) AnnotationAssertion( "MESH:C537561"^^xsd:string) AnnotationAssertion( "Arachnodactyly, joint laxity, and spondylolisthesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002889"^^xsd:string) AnnotationAssertion(rdfs:label "Jaffer Beighton Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism, Type IIA) AnnotationAssertion( "MIM:145260"^^xsd:string) AnnotationAssertion( "RDO:0013209"^^xsd:string) AnnotationAssertion( "MESH:C564160"^^xsd:string) AnnotationAssertion( "Gordon hyperkalemia-hypertension syndrome"^^xsd:string) AnnotationAssertion( "PHA2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002890"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism, Type IIA"^^xsd:string) SubClassOf( ) # Class: (Vitelliform Macular Dystrophy 2) AnnotationAssertion( "MIM:153700"^^xsd:string) AnnotationAssertion( "GARD:182"^^xsd:string) AnnotationAssertion( "MESH:C567187"^^xsd:string) AnnotationAssertion( "BMD"^^xsd:string) AnnotationAssertion( "Best Vitelliform Macular Dystrophy, Multifocal"^^xsd:string) AnnotationAssertion( "Best disease"^^xsd:string) AnnotationAssertion( "Best macular dystrophy"^^xsd:string) AnnotationAssertion( "Best vitelliform macular dystrophy"^^xsd:string) AnnotationAssertion( "Best's disease"^^xsd:string) AnnotationAssertion( "Macular Degeneration, Polymorphic Vitelline"^^xsd:string) AnnotationAssertion( "VMD2"^^xsd:string) AnnotationAssertion( "juvenile-onset vitelliform macular dystrophy"^^xsd:string) AnnotationAssertion( "vitelliform macular dystrophy type 2"^^xsd:string) AnnotationAssertion( "vitelliform macular dystrophy, early onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002891"^^xsd:string) AnnotationAssertion(rdfs:label "Vitelliform Macular Dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (Parasitic Intestinal Diseases) AnnotationAssertion(Annotation( "MESH:D007411"^^xsd:string) "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS."^^xsd:string) AnnotationAssertion( "RDO:0004972"^^xsd:string) AnnotationAssertion( "EFO:0009561"^^xsd:string) AnnotationAssertion( "MESH:D007411"^^xsd:string) AnnotationAssertion( "Parasitic Intestinal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002892"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Intestinal Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Taurodontia, Absent Teeth, Sparse Hair) AnnotationAssertion( "MIM:272980"^^xsd:string) AnnotationAssertion( "MESH:C536945"^^xsd:string) AnnotationAssertion( "Taurodontia, Absent Teeth, And Sparse Hair"^^xsd:string) AnnotationAssertion( "congenital absence of teeth with taurodontia and sparse hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002893"^^xsd:string) AnnotationAssertion(rdfs:label "Taurodontia, Absent Teeth, Sparse Hair"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (radiation-induced brain injury) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-29T15:58:40Z"^^xsd:string) AnnotationAssertion( "EFO:0009704"^^xsd:string) AnnotationAssertion( "brain injury induced by radiation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002894"^^xsd:string) AnnotationAssertion(rdfs:label "radiation-induced brain injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tay-Sachs Disease, Pseudo-AB Variant) AnnotationAssertion( "MESH:C564786"^^xsd:string) AnnotationAssertion( "RDO:0013632"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002895"^^xsd:string) AnnotationAssertion(rdfs:label "Tay-Sachs Disease, Pseudo-AB Variant"^^xsd:string) SubClassOf( ) # Class: (Follicular Hamartoma, Alopecia, Cystic Fibrosis) AnnotationAssertion( "RDO:0002839"^^xsd:string) AnnotationAssertion( "MESH:C537071"^^xsd:string) AnnotationAssertion( "Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002896"^^xsd:string) AnnotationAssertion(rdfs:label "Follicular Hamartoma, Alopecia, Cystic Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Erythremia, Beta-Globin Type) AnnotationAssertion( "MESH:C564193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002897"^^xsd:string) AnnotationAssertion(rdfs:label "Erythremia, Beta-Globin Type"^^xsd:string) SubClassOf( ) # Class: (Cerebral Ventricle Neoplasms) AnnotationAssertion(Annotation( "MESH:D002551"^^xsd:string) "Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures."^^xsd:string) AnnotationAssertion( "MESH:D002551"^^xsd:string) AnnotationAssertion( "Brain Ventricular Neoplasm"^^xsd:string) AnnotationAssertion( "Brain Ventricular Neoplasms"^^xsd:string) AnnotationAssertion( "Brain Ventricular Tumor"^^xsd:string) AnnotationAssertion( "Brain Ventricular Tumors"^^xsd:string) AnnotationAssertion( "Cerebral Ventricle Neoplasm"^^xsd:string) AnnotationAssertion( "Cerebral Ventricle Tumor"^^xsd:string) AnnotationAssertion( "Cerebral Ventricle Tumors"^^xsd:string) AnnotationAssertion( "Cerebroventricular Neoplasm"^^xsd:string) AnnotationAssertion( "Cerebroventricular Neoplasms"^^xsd:string) AnnotationAssertion( "Intraventricular Neoplasm"^^xsd:string) AnnotationAssertion( "Intraventricular Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002898"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Ventricle Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Mesothelial Neoplasms) AnnotationAssertion(Annotation( "MESH:D018301"^^xsd:string) "Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "RDO:0006122"^^xsd:string) AnnotationAssertion( "EFO:1001044"^^xsd:string) AnnotationAssertion( "MESH:D018301"^^xsd:string) AnnotationAssertion( "Mesothelial Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002899"^^xsd:string) AnnotationAssertion(rdfs:label "Mesothelial Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Tubulointerstitial Kidney Disease 2) AnnotationAssertion( "MIM:174000"^^xsd:string) AnnotationAssertion( "MESH:C536137"^^xsd:string) AnnotationAssertion( "ADMCKD1"^^xsd:string) AnnotationAssertion( "ADTKD2"^^xsd:string) AnnotationAssertion( "MCKD"^^xsd:string) AnnotationAssertion( "MCKD1"^^xsd:string) AnnotationAssertion( "MUC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Medullary cystic kidney disease 1"^^xsd:string) AnnotationAssertion( "Medullary cystic kidney disease, autosomal dominant"^^xsd:string) AnnotationAssertion( "Polycystic kidneys, medullary type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002900"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Tubulointerstitial Kidney Disease 2"^^xsd:string) SubClassOf( ) # Class: (Ovarian Fibromata) AnnotationAssertion( "MIM:166970"^^xsd:string) AnnotationAssertion( "MESH:C562391"^^xsd:string) AnnotationAssertion( "Hereditary ovarian fibroma tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002901"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Fibromata"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sulfatidosis) AnnotationAssertion(Annotation( "MESH:D052516"^^xsd:string) "A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage)."^^xsd:string) AnnotationAssertion( "MESH:D052516"^^xsd:string) AnnotationAssertion( "Sulfatidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002902"^^xsd:string) AnnotationAssertion(rdfs:label "Sulfatidosis"^^xsd:string) SubClassOf( ) # Class: (Tuftsin Deficiency) AnnotationAssertion( "MIM:191150"^^xsd:string) AnnotationAssertion( "MESH:C562872"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002903"^^xsd:string) AnnotationAssertion(rdfs:label "Tuftsin Deficiency"^^xsd:string) SubClassOf( ) # Class: (Primitive Neuroectodermal Tumors) AnnotationAssertion(Annotation( "MESH:D018242"^^xsd:string) "A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)"^^xsd:string) AnnotationAssertion( "MESH:D018242"^^xsd:string) AnnotationAssertion( "Medulloepithelioma"^^xsd:string) AnnotationAssertion( "PNET"^^xsd:string) AnnotationAssertion( "PNETs"^^xsd:string) AnnotationAssertion( "Primitive Neuroectodermal Tumor"^^xsd:string) AnnotationAssertion( "Primitive Neuroepithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Primitive Neuroepithelial Neoplasms"^^xsd:string) AnnotationAssertion( "Primitive Neuroepithelial Tumor"^^xsd:string) AnnotationAssertion( "medulloepitheliomas"^^xsd:string) AnnotationAssertion( "primitive neuroepithelial tumors"^^xsd:string) AnnotationAssertion( "spongioblastoma"^^xsd:string) AnnotationAssertion( "spongioblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002904"^^xsd:string) AnnotationAssertion(rdfs:label "Primitive Neuroectodermal Tumors"^^xsd:string) SubClassOf( ) # Class: (EDICT Syndrome) AnnotationAssertion( "MIM:614303"^^xsd:string) AnnotationAssertion( "EDICT"^^xsd:string) AnnotationAssertion( "ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME"^^xsd:string) AnnotationAssertion( "KERATOCONUS WITH CATARACT"^^xsd:string) AnnotationAssertion( "KTCNCT"^^xsd:string) AnnotationAssertion( "familial keratoconus with early-onset anterior polar cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002905"^^xsd:string) AnnotationAssertion(rdfs:label "EDICT Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Organ Failure) AnnotationAssertion(Annotation( "MESH:D009102"^^xsd:string) "A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative."^^xsd:string) AnnotationAssertion( "EFO:1001373"^^xsd:string) AnnotationAssertion( "MESH:D009102"^^xsd:string) AnnotationAssertion( "RDO:0006148"^^xsd:string) AnnotationAssertion( "MODS"^^xsd:string) AnnotationAssertion( "MOFS"^^xsd:string) AnnotationAssertion( "Multiple Organ Dysfunction Syndrome"^^xsd:string) AnnotationAssertion( "Multiple Organ Failures"^^xsd:string) AnnotationAssertion( "multiple organ failure syndrome"^^xsd:string) AnnotationAssertion( "INFANT ONSET MULTIPLE ORGAN FAILURE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002906"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Organ Failure"^^xsd:string) SubClassOf( ) # Class: (Sinus Arrhythmia) AnnotationAssertion(Annotation( "MESH:D001146"^^xsd:string) "Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds."^^xsd:string) AnnotationAssertion( "RDO:0004907"^^xsd:string) AnnotationAssertion( "MESH:D001146"^^xsd:string) AnnotationAssertion( "Sinoatrial Arrhythmia"^^xsd:string) AnnotationAssertion( "Sinoatrial Arrhythmias"^^xsd:string) AnnotationAssertion( "Sinus Arrhythmias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002907"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Arrhythmia"^^xsd:string) SubClassOf( ) # Class: (Acute Eosinophilic Leukemia) AnnotationAssertion(Annotation( "MESH:D015472"^^xsd:string) "A rare acute myeloid leukemia characterized by abnormal EOSINOPHILS in the bone marrow."^^xsd:string) AnnotationAssertion( "RDO:0006886"^^xsd:string) AnnotationAssertion( "MESH:D015472"^^xsd:string) AnnotationAssertion( "Acute Eosinophilic Leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002908"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Eosinophilic Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oxygen-Induced Retinopathy) AnnotationAssertion( "A noninflammatory disorder of the retina, involving neuronal damage induced by hypoxic conditions, that is a widely used animal model of retinopathy of prematurity (ROP)."^^xsd:string) AnnotationAssertion( "RDO:9000037"^^xsd:string) AnnotationAssertion( "OIP"^^xsd:string) AnnotationAssertion(Annotation( "PMID:20010791"^^xsd:string) "OIR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002909"^^xsd:string) AnnotationAssertion(rdfs:label "Oxygen-Induced Retinopathy"^^xsd:string) SubClassOf( ) # Class: (Hearing Loss, Noise-Induced) AnnotationAssertion(Annotation( "MESH:D006317"^^xsd:string) "Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz."^^xsd:string) AnnotationAssertion( "MIM:613035"^^xsd:string) AnnotationAssertion( "EFO:1001254"^^xsd:string) AnnotationAssertion( "EFO:1001338"^^xsd:string) AnnotationAssertion( "MESH:D006317"^^xsd:string) AnnotationAssertion( "Acoustic Trauma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Noise-induced hearing loss, association with"^^xsd:string) AnnotationAssertion( "Noise-induced hearing loss, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9002910"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Loss, Noise-Induced"^^xsd:string) SubClassOf( ) # Class: (Ruvalcaba Syndrome) AnnotationAssertion( "MIM:180870"^^xsd:string) AnnotationAssertion( "MESH:C579395"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002911"^^xsd:string) AnnotationAssertion(rdfs:label "Ruvalcaba Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fanconi Anemia Complementation Group M) AnnotationAssertion( "FANCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002912"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi Anemia Complementation Group M"^^xsd:string) SubClassOf( ) # Class: (Parturient Paresis) AnnotationAssertion(Annotation( "MESH:D010319"^^xsd:string) "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes."^^xsd:string) AnnotationAssertion( "MESH:D010319"^^xsd:string) AnnotationAssertion( "Animal Milk Fever"^^xsd:string) AnnotationAssertion( "Parturient Pareses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002913"^^xsd:string) AnnotationAssertion(rdfs:label "Parturient Paresis"^^xsd:string) SubClassOf( ) # Class: (Familial Sudden Death) AnnotationAssertion( "MESH:C566172"^^xsd:string) AnnotationAssertion( "RDO:0014610"^^xsd:string) AnnotationAssertion( "SUDDEN UNEXPLAINED DEATH IN CHILDHOOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002914"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Sudden Death"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis with Erythrokeratoderma) AnnotationAssertion(Annotation( "MIM:620507"^^xsd:string) "An autosomal dominant disorder of cornification characterized by abnormal desquamation in addition to erythematous hyperkeratotic plaques or patches. Caused by heterozygous mutation in the KLK11 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-22T10:01:15Z"^^xsd:string) AnnotationAssertion( "MIM:620507"^^xsd:string) AnnotationAssertion( "IEKD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002915"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis with Erythrokeratoderma"^^xsd:string) SubClassOf( ) # Class: (Hyperphagia) AnnotationAssertion(Annotation( "MESH:D006963"^^xsd:string) "Ingestion of a greater than optimal quantity of food."^^xsd:string) AnnotationAssertion( "MESH:D006963"^^xsd:string) AnnotationAssertion( "Overeating"^^xsd:string) AnnotationAssertion( "Polyphagia"^^xsd:string) AnnotationAssertion( "Polyphagias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002916"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphagia"^^xsd:string) SubClassOf( ) # Class: (Familial Progressive Supranuclear Palsy) AnnotationAssertion( "RDO:0004507"^^xsd:string) AnnotationAssertion( "MESH:C538572"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002917"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Progressive Supranuclear Palsy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sudden Unexpected Nocturnal Death Syndrome) AnnotationAssertion( "MESH:C531638"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002919"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Unexpected Nocturnal Death Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bullous Dystrophy, Hereditary Macular Type) AnnotationAssertion( "MIM:302000"^^xsd:string) AnnotationAssertion( "MESH:C563065"^^xsd:string) AnnotationAssertion( "EBM"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa, Macular Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002920"^^xsd:string) AnnotationAssertion(rdfs:label "Bullous Dystrophy, Hereditary Macular Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Holoprosencephaly, Recurrent Infections, and Monocytosis) AnnotationAssertion( "MIM:610680"^^xsd:string) AnnotationAssertion( "MESH:C538328"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002921"^^xsd:string) AnnotationAssertion(rdfs:label "Holoprosencephaly, Recurrent Infections, and Monocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudoarylsulfatase A Deficiency) AnnotationAssertion( "MESH:C565403"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002922"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoarylsulfatase A Deficiency"^^xsd:string) SubClassOf( ) # Class: (Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones) AnnotationAssertion( "MIM:608154"^^xsd:string) AnnotationAssertion( "MESH:C564283"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002923"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations) AnnotationAssertion( "MESH:C566153"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002924"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Narcolepsy 1) AnnotationAssertion( "MIM:161400"^^xsd:string) AnnotationAssertion( "MESH:C563534"^^xsd:string) AnnotationAssertion( "NRCLP1"^^xsd:string) AnnotationAssertion( "Narcoleptic Syndrome 1"^^xsd:string) AnnotationAssertion( "Type 1 narcolepsy"^^xsd:string) AnnotationAssertion( "NARCOLEPTIC SYNDROME 1 CATAPLEXY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002925"^^xsd:string) AnnotationAssertion(rdfs:label "Narcolepsy 1"^^xsd:string) SubClassOf( ) # Class: (Galloway-Mowat Syndrome 10) AnnotationAssertion(Annotation( "MIM:619609"^^xsd:string) "A severe autosomal recessive disorder characterized by onset of symptoms soon after birth (progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis). Caused by homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-15T12:12:58Z"^^xsd:string) AnnotationAssertion( "MIM:619609"^^xsd:string) AnnotationAssertion( "GAMOS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002926"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat Syndrome 10"^^xsd:string) SubClassOf( ) # Class: (Neck Injuries) AnnotationAssertion(Annotation( "MESH:D019838"^^xsd:string) "General or unspecified injuries to the neck. It includes injuries to the skin, muscles, and other soft tissues of the neck."^^xsd:string) AnnotationAssertion( "EFO:0009476"^^xsd:string) AnnotationAssertion( "MESH:D019838"^^xsd:string) AnnotationAssertion( "Neck Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002927"^^xsd:string) AnnotationAssertion(rdfs:label "Neck Injuries"^^xsd:string) SubClassOf( ) # Class: (Colonic Neoplasms) AnnotationAssertion(Annotation( "MESH:D003110"^^xsd:string) "Tumors of the COLON."^^xsd:string) AnnotationAssertion( "EFO:0004288"^^xsd:string) AnnotationAssertion( "EFO:1000187"^^xsd:string) AnnotationAssertion( "MESH:D003110"^^xsd:string) AnnotationAssertion( "colon neoplasm"^^xsd:string) AnnotationAssertion( "colon neoplasms"^^xsd:string) AnnotationAssertion( "colonic neoplasm"^^xsd:string) AnnotationAssertion( "colonic tumor"^^xsd:string) AnnotationAssertion( "neoplasm of colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002928"^^xsd:string) AnnotationAssertion(rdfs:label "Colonic Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Obturator Hernia) AnnotationAssertion(Annotation( "MESH:D006553"^^xsd:string) "A pelvic hernia through the obturator foramen, a large aperture in the hip bone normally covered by a membrane. Obturator hernia can lead to intestinal incarceration and INTESTINAL OBSTRUCTION."^^xsd:string) AnnotationAssertion( "MESH:D006553"^^xsd:string) AnnotationAssertion( "Obturator Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002929"^^xsd:string) AnnotationAssertion(rdfs:label "Obturator Hernia"^^xsd:string) SubClassOf( ) # Class: (Retinoblastoma-Related Osteosarcoma) AnnotationAssertion( "RDO:0014989"^^xsd:string) AnnotationAssertion( "MESH:C566714"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002930"^^xsd:string) AnnotationAssertion(rdfs:label "Retinoblastoma-Related Osteosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chondrocalcinosis due to Apatite Crystal Deposition) AnnotationAssertion( "MIM:118610"^^xsd:string) AnnotationAssertion( "MESH:C535939"^^xsd:string) AnnotationAssertion( "Familial Apatite disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002931"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrocalcinosis due to Apatite Crystal Deposition"^^xsd:string) SubClassOf( ) # Class: (Hairy Elbows) AnnotationAssertion( "MIM:139600"^^xsd:string) AnnotationAssertion( "MESH:C535618"^^xsd:string) AnnotationAssertion( "Hypertrichosis cubiti"^^xsd:string) AnnotationAssertion( "Hypertrichosis cubiti short stature"^^xsd:string) AnnotationAssertion( "MacDermot Patton Williams syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002932"^^xsd:string) AnnotationAssertion(rdfs:label "Hairy Elbows"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia) AnnotationAssertion( "NEDIDHA is caused by homozygous or compound heterozygous mutation in the DOCK3 gene (603123) on chromosome 3p21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T08:49:31Z"^^xsd:string) AnnotationAssertion( "MIM:618292"^^xsd:string) AnnotationAssertion( "NEDIDHA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002933"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 7, Monosomy 7q2) AnnotationAssertion( "MESH:C537815"^^xsd:string) AnnotationAssertion( "RDO:0003719"^^xsd:string) AnnotationAssertion( "Deletion 7q2"^^xsd:string) AnnotationAssertion( "Monosomy 7q2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002934"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Monosomy 7q2"^^xsd:string) SubClassOf( ) # Class: (Chitayat Moore Del Bigio Syndrome) AnnotationAssertion( "MESH:C535927"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002935"^^xsd:string) AnnotationAssertion(rdfs:label "Chitayat Moore Del Bigio Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bile Duct Neoplasms) AnnotationAssertion(Annotation( "MESH:D001650"^^xsd:string) "Tumors or cancer of the BILE DUCTS."^^xsd:string) AnnotationAssertion( "MESH:D001650"^^xsd:string) AnnotationAssertion( "bile duct neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002936"^^xsd:string) AnnotationAssertion(rdfs:label "Bile Duct Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Child Nutrition Disorders) AnnotationAssertion(Annotation( "MESH:D015362"^^xsd:string) "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years."^^xsd:string) AnnotationAssertion( "MESH:D015362"^^xsd:string) AnnotationAssertion( "Child Malnutrition"^^xsd:string) AnnotationAssertion( "Child Nutrition Disorder"^^xsd:string) AnnotationAssertion( "Child Overnutrition"^^xsd:string) AnnotationAssertion( "Malnutrition in Children"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002937"^^xsd:string) AnnotationAssertion(rdfs:label "Child Nutrition Disorders"^^xsd:string) SubClassOf( ) # Class: (Harding Ataxia) AnnotationAssertion( "MIM:212895"^^xsd:string) AnnotationAssertion( "MESH:C535633"^^xsd:string) AnnotationAssertion( "Ataxia, harding type"^^xsd:string) AnnotationAssertion( "Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes"^^xsd:string) AnnotationAssertion( "Cerebellar ataxia early onset with retained tendon reflex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002938"^^xsd:string) AnnotationAssertion(rdfs:label "Harding Ataxia"^^xsd:string) SubClassOf( ) # Class: (Wright Dyck Syndrome) AnnotationAssertion( "MESH:C536749"^^xsd:string) AnnotationAssertion( "RDO:0002426"^^xsd:string) AnnotationAssertion( "Hearing loss ankle anomalies and neurological regression-dementia"^^xsd:string) AnnotationAssertion( "Sensory neuropathy with deafness and dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002939"^^xsd:string) AnnotationAssertion(rdfs:label "Wright Dyck Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate) AnnotationAssertion( "MIM:609250"^^xsd:string) AnnotationAssertion( "MESH:C563765"^^xsd:string) AnnotationAssertion( "Marie Unna-Like Scalp Hypotrichosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002941"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Abdominal Chemodectomas with Cutaneous Angiolipomas) AnnotationAssertion( "MIM:118350"^^xsd:string) AnnotationAssertion( "MESH:C535552"^^xsd:string) AnnotationAssertion( "Familial abdominal chemodectomas with cutaneous angiolipomas"^^xsd:string) AnnotationAssertion( "Intraabdominal chemodectoma with cutaneous angiolipomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002942"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Chemodectomas with Cutaneous Angiolipomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:224050"^^xsd:string) AnnotationAssertion( "CAMRQ1"^^xsd:string) AnnotationAssertion( "CHMRQ1"^^xsd:string) AnnotationAssertion( "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1"^^xsd:string) AnnotationAssertion( "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002943"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Hyperzincemia and Hypercalprotectinemia) AnnotationAssertion( "MESH:C565988"^^xsd:string) AnnotationAssertion( "RDO:0014479"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002944"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperzincemia and Hypercalprotectinemia"^^xsd:string) SubClassOf( ) # Class: (Tremor of Intention, Ataxia, and Lipofuscinosis) AnnotationAssertion( "MIM:190200"^^xsd:string) AnnotationAssertion( "MESH:C566038"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002945"^^xsd:string) AnnotationAssertion(rdfs:label "Tremor of Intention, Ataxia, and Lipofuscinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia) AnnotationAssertion( "MIM:604382"^^xsd:string) AnnotationAssertion( "MESH:C565781"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002946"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 9) AnnotationAssertion( "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Caused by compound heterozygous mutation in the RNU7-1 gene on chromosome 12p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T10:44:49Z"^^xsd:string) AnnotationAssertion( "MIM:619487"^^xsd:string) AnnotationAssertion( "AGS9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002947"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 9"^^xsd:string) SubClassOf( ) # Class: (Storm Syndrome) AnnotationAssertion( "MIM:185069"^^xsd:string) AnnotationAssertion( "MESH:C566109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002948"^^xsd:string) AnnotationAssertion(rdfs:label "Storm Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dyskinesia with Orofacial Involvement, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:619647"^^xsd:string) "This disease is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-04T14:10:47Z"^^xsd:string) AnnotationAssertion( "MIM:619647"^^xsd:string) AnnotationAssertion( "Autosomal recessive dyskinesia with orofacial involvement"^^xsd:string) AnnotationAssertion( "DSKOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002949"^^xsd:string) AnnotationAssertion(rdfs:label "Dyskinesia with Orofacial Involvement, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Camera Marugo Cohen Syndrome) AnnotationAssertion( "MIM:604257"^^xsd:string) AnnotationAssertion( "MESH:C537964"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002950"^^xsd:string) AnnotationAssertion(rdfs:label "Camera Marugo Cohen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 27) AnnotationAssertion( "Characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Caused by heterozygous mutation in the LMNB2 gene on chromosome 19p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-22T17:34:14Z"^^xsd:string) AnnotationAssertion( "MIM:619180"^^xsd:string) AnnotationAssertion( "MCPH27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "DOID:9002951"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 27"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Escherichia Coli Infections) AnnotationAssertion(Annotation( "MESH:D004927"^^xsd:string) "Infections with bacteria of the species ESCHERICHIA COLI."^^xsd:string) AnnotationAssertion( "EFO:1001318"^^xsd:string) AnnotationAssertion( "MESH:D004927"^^xsd:string) AnnotationAssertion( "RDO:0005534"^^xsd:string) AnnotationAssertion( "E coli Infection"^^xsd:string) AnnotationAssertion( "E coli Infections"^^xsd:string) AnnotationAssertion( "Escherichia coli Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002953"^^xsd:string) AnnotationAssertion(rdfs:label "Escherichia Coli Infections"^^xsd:string) SubClassOf( ) # Class: (Microcephalic Osteodysplastic Primordial Dwarfism) AnnotationAssertion( "MOPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002954"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephalic Osteodysplastic Primordial Dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nerve Degeneration) AnnotationAssertion(Annotation( "MESH:D009410"^^xsd:string) "Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways."^^xsd:string) AnnotationAssertion( "MESH:D009410"^^xsd:string) AnnotationAssertion( "Nerve Degenerations"^^xsd:string) AnnotationAssertion( "Neuron Degeneration"^^xsd:string) AnnotationAssertion( "Neuron Degenerations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "striatal degeneration"^^xsd:string) AnnotationAssertion( "DOID:9002955"^^xsd:string) AnnotationAssertion(rdfs:label "Nerve Degeneration"^^xsd:string) SubClassOf( ) # Class: (X-Linked Intellectual Developmental Disorder 95) AnnotationAssertion( "MIM:300716"^^xsd:string) AnnotationAssertion( "MESH:C567470"^^xsd:string) AnnotationAssertion( "MRX95"^^xsd:string) AnnotationAssertion( "X-linked mental retardation 95"^^xsd:string) AnnotationAssertion( "XLID95"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002956"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Intellectual Developmental Disorder 95"^^xsd:string) SubClassOf( ) # Class: (CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO) AnnotationAssertion( "Carbonic anhydrase VA deficiency (CA5AD) is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement. CA5AD is caused by homozygous mutation in the CA5A gene on chromosome 16q24. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:615751"^^xsd:string) AnnotationAssertion( "CA5AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002957"^^xsd:string) AnnotationAssertion(rdfs:label "CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Solitary Fibrous Tumors) AnnotationAssertion(Annotation( "MESH:D054364"^^xsd:string) "Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites."^^xsd:string) AnnotationAssertion( "EFO:1000214"^^xsd:string) AnnotationAssertion( "MESH:D054364"^^xsd:string) AnnotationAssertion( "RDO:0007671"^^xsd:string) AnnotationAssertion( "Solitary Fibrous Tumor"^^xsd:string) AnnotationAssertion( "Dedifferentiated Solitary Fibrous Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002958"^^xsd:string) AnnotationAssertion(rdfs:label "Solitary Fibrous Tumors"^^xsd:string) SubClassOf( ) # Class: (Deficient N-Hydroxylation of Amobarbital) AnnotationAssertion( "MIM:204800"^^xsd:string) AnnotationAssertion( "MESH:C565959"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002959"^^xsd:string) AnnotationAssertion(rdfs:label "Deficient N-Hydroxylation of Amobarbital"^^xsd:string) SubClassOf( ) # Class: (Impacted Tooth) AnnotationAssertion(Annotation( "MESH:D014095"^^xsd:string) "A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures."^^xsd:string) AnnotationAssertion( "MIM:308280"^^xsd:string) AnnotationAssertion( "MESH:D014095"^^xsd:string) AnnotationAssertion( "Impacted Teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002960"^^xsd:string) AnnotationAssertion(rdfs:label "Impacted Tooth"^^xsd:string) SubClassOf( ) # Class: (Upington Disease) AnnotationAssertion( "MIM:191520"^^xsd:string) AnnotationAssertion( "MESH:C536472"^^xsd:string) AnnotationAssertion( "Familial dyschondroplasia"^^xsd:string) AnnotationAssertion( "Perthes-like hip disease, enchondromata, and ecchondromata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002961"^^xsd:string) AnnotationAssertion(rdfs:label "Upington Disease"^^xsd:string) SubClassOf( ) # Class: (Adams-Oliver Syndrome 2) AnnotationAssertion( "MIM:614219"^^xsd:string) AnnotationAssertion( "AOS2"^^xsd:string) AnnotationAssertion( "DOCK6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002962"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Intellectual Developmental Disorder 78) AnnotationAssertion(Annotation( "MIM:620237"^^xsd:string) "A neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Caused by homozygous or compound heterozygous mutation in the WDR11 gene on chromosome 10q26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-10T09:08:58Z"^^xsd:string) AnnotationAssertion( "MIM:620237"^^xsd:string) AnnotationAssertion( "MRT78"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002963"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Intellectual Developmental Disorder 78"^^xsd:string) SubClassOf( ) # Class: (Chronic Idiopathic Polyhydramnios) AnnotationAssertion( "MIM:263610"^^xsd:string) AnnotationAssertion( "MESH:C564876"^^xsd:string) AnnotationAssertion( "lactogen receptor defect of chorion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002964"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Idiopathic Polyhydramnios"^^xsd:string) SubClassOf( ) # Class: (Cerebrospinal Fluid Leak) AnnotationAssertion(Annotation( "MESH:D065634"^^xsd:string) "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)."^^xsd:string) AnnotationAssertion( "MESH:D065634"^^xsd:string) AnnotationAssertion( "RDO:0015954"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Drainage"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Drainage, Post Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Drainage, Spontaneous"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Drainage, Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Drainages"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leak, Post Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leak, Spontaneous"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leak, Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leakage"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leakage, Post Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leakage, Spontaneous"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leakage, Traumatic"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leakages"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Leaks"^^xsd:string) AnnotationAssertion( "Spinal Cerebrospinal Fluid Leak"^^xsd:string) AnnotationAssertion( "Spinal Cerebrospinal Fluid Leak, Post Traumatic"^^xsd:string) AnnotationAssertion( "Spinal Cerebrospinal Fluid Leak, Spontaneous"^^xsd:string) AnnotationAssertion( "Spinal Cerebrospinal Fluid Leak, Traumatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002965"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrospinal Fluid Leak"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Traumatic Amputation) AnnotationAssertion(Annotation( "MESH:D000673"^^xsd:string) "Loss of a limb or other bodily appendage by accidental injury."^^xsd:string) AnnotationAssertion( "MESH:D000673"^^xsd:string) AnnotationAssertion( "Traumatic Amputations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002966"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Amputation"^^xsd:string) SubClassOf( ) # Class: (Chondrodysplasia Punctata with Coagulation Factor Deficiency) AnnotationAssertion( "MESH:C564742"^^xsd:string) AnnotationAssertion( "RDO:0013603"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002967"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrodysplasia Punctata with Coagulation Factor Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muscular Dystrophy, Barnes Type) AnnotationAssertion( "MIM:158800"^^xsd:string) AnnotationAssertion( "RDO:0012783"^^xsd:string) AnnotationAssertion( "MESH:C563558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002968"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Barnes Type"^^xsd:string) SubClassOf( ) # Class: (Nevus) AnnotationAssertion(Annotation( "MESH:D009506"^^xsd:string) "A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin."^^xsd:string) AnnotationAssertion( "EFO:0000625"^^xsd:string) AnnotationAssertion( "EFO:0004200"^^xsd:string) AnnotationAssertion( "MESH:D009506"^^xsd:string) AnnotationAssertion( "RDO:0005418"^^xsd:string) AnnotationAssertion( "Nevi"^^xsd:string) AnnotationAssertion( "Skin Mole"^^xsd:string) AnnotationAssertion( "Skin Moles"^^xsd:string) AnnotationAssertion( "atypical mole"^^xsd:string) AnnotationAssertion( "dysplastic nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002969"^^xsd:string) AnnotationAssertion(rdfs:label "Nevus"^^xsd:string) SubClassOf( ) # Class: (Tetralogy of Fallot and Glaucoma) AnnotationAssertion( "MIM:187501"^^xsd:string) AnnotationAssertion( "MESH:C536501"^^xsd:string) AnnotationAssertion( "familial tetralogy of Fallot and glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002970"^^xsd:string) AnnotationAssertion(rdfs:label "Tetralogy of Fallot and Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myxomatous Mitral Valve Prolapse 2) AnnotationAssertion( "MIM:607829"^^xsd:string) AnnotationAssertion( "DCHS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DCHS1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C564326"^^xsd:string) AnnotationAssertion( "MITRAL VALVE PROLAPSE 2"^^xsd:string) AnnotationAssertion( "MITRAL VALVE PROLAPSE, MYXOMATOUS 2"^^xsd:string) AnnotationAssertion( "MMVP2"^^xsd:string) AnnotationAssertion( "MVP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002971"^^xsd:string) AnnotationAssertion(rdfs:label "Myxomatous Mitral Valve Prolapse 2"^^xsd:string) SubClassOf( ) # Class: (Trichilemmal Cyst) AnnotationAssertion( "MIM:609649"^^xsd:string) AnnotationAssertion( "MESH:C566458"^^xsd:string) AnnotationAssertion( "TRICY1"^^xsd:string) AnnotationAssertion( "pilar cyst"^^xsd:string) AnnotationAssertion( "pilar cysts"^^xsd:string) AnnotationAssertion( "tricholemmal cyst 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002972"^^xsd:string) AnnotationAssertion(rdfs:label "Trichilemmal Cyst"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T12:15:52Z"^^xsd:string) AnnotationAssertion( "MIM:619396"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7"^^xsd:string) AnnotationAssertion( "IIAE10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002973"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10"^^xsd:string) SubClassOf( ) # Class: (Weismann Netter Syndrome) AnnotationAssertion( "MIM:112350"^^xsd:string) AnnotationAssertion( "MESH:C537082"^^xsd:string) AnnotationAssertion( "Anterior bowing of legs with dwarfism"^^xsd:string) AnnotationAssertion( "Toxopachyosteose diaphysaire tibio-peroniere"^^xsd:string) AnnotationAssertion( "Toxopachyosteosis"^^xsd:string) AnnotationAssertion( "Toxopachyoteose diaphysaire tibio peroniere"^^xsd:string) AnnotationAssertion( "Weismann Netter Stuhl syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002974"^^xsd:string) AnnotationAssertion(rdfs:label "Weismann Netter Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Cardiac Lipidosis) AnnotationAssertion( "MIM:212080"^^xsd:string) AnnotationAssertion( "MESH:C565884"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002975"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cardiac Lipidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Duplication of Eyebrows with Stretchable Skin and Syndactyly) AnnotationAssertion( "MIM:227210"^^xsd:string) AnnotationAssertion( "MESH:C536383"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002976"^^xsd:string) AnnotationAssertion(rdfs:label "Duplication of Eyebrows with Stretchable Skin and Syndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ergotism) AnnotationAssertion(Annotation( "MESH:D004881"^^xsd:string) "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine."^^xsd:string) AnnotationAssertion( "MESH:D004881"^^xsd:string) AnnotationAssertion( "Ergot Poisoning"^^xsd:string) AnnotationAssertion( "Ergot Poisonings"^^xsd:string) AnnotationAssertion( "Ergotisms"^^xsd:string) AnnotationAssertion( "Saint Anthony Fire"^^xsd:string) AnnotationAssertion( "Saint Anthony's Fire"^^xsd:string) AnnotationAssertion( "Saint Anthonys Fire"^^xsd:string) AnnotationAssertion( "St. Anthony Fire"^^xsd:string) AnnotationAssertion( "St. Anthony's Fire"^^xsd:string) AnnotationAssertion( "St. Anthonys Fire"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002977"^^xsd:string) AnnotationAssertion(rdfs:label "Ergotism"^^xsd:string) SubClassOf( ) # Class: (Varicella Zoster Encephalitis) AnnotationAssertion(Annotation( "MESH:D020804"^^xsd:string) "Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)"^^xsd:string) AnnotationAssertion( "RDO:0007433"^^xsd:string) AnnotationAssertion( "EFO:1001310"^^xsd:string) AnnotationAssertion( "MESH:D020804"^^xsd:string) AnnotationAssertion( "Encephalitis, Human Herpesvirus 3"^^xsd:string) AnnotationAssertion( "Encephalitis, VZ Virus"^^xsd:string) AnnotationAssertion( "Herpes Zoster Encephalitis"^^xsd:string) AnnotationAssertion( "Herpes Zoster Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Varicella Encephalitides"^^xsd:string) AnnotationAssertion( "Varicella Encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002978"^^xsd:string) AnnotationAssertion(rdfs:label "Varicella Zoster Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anal Atresia, Hypospadias, and Penoscrotal Inversion) AnnotationAssertion( "MIM:602553"^^xsd:string) AnnotationAssertion( "MESH:C566526"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002979"^^xsd:string) AnnotationAssertion(rdfs:label "Anal Atresia, Hypospadias, and Penoscrotal Inversion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Velofacioskeletal Syndrome) AnnotationAssertion( "MIM:600736"^^xsd:string) AnnotationAssertion( "MESH:C536536"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002980"^^xsd:string) AnnotationAssertion(rdfs:label "Velofacioskeletal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Genomic Instability) AnnotationAssertion(Annotation( "MESH:D042822"^^xsd:string) "An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional."^^xsd:string) AnnotationAssertion( "MESH:D042822"^^xsd:string) AnnotationAssertion( "Genome Instabilities"^^xsd:string) AnnotationAssertion( "Genome Instability"^^xsd:string) AnnotationAssertion( "Genome Stabilities"^^xsd:string) AnnotationAssertion( "Genome Stability"^^xsd:string) AnnotationAssertion( "Genomic Instabilities"^^xsd:string) AnnotationAssertion( "Genomic Stabilities"^^xsd:string) AnnotationAssertion( "Genomic Stability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002981"^^xsd:string) AnnotationAssertion(rdfs:label "Genomic Instability"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 81) AnnotationAssertion( "Characterized by postlingual onset of slowly progressive sensorineural hearing loss. Caused by heterozygous mutation in the ELMOD3 gene on chromosome 2p11. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-26T11:44:32Z"^^xsd:string) AnnotationAssertion( "MIM:619500"^^xsd:string) AnnotationAssertion( "DFNA81"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002982"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 81"^^xsd:string) SubClassOf( ) # Class: (Distal Arthrogryposis, Type 2E) AnnotationAssertion( "MIM:121070"^^xsd:string) AnnotationAssertion( "MESH:C535384"^^xsd:string) AnnotationAssertion( "Contractures of fingers and jaw"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002983"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis, Type 2E"^^xsd:string) SubClassOf( ) # Class: (Malabsorption Syndromes) AnnotationAssertion(Annotation( "MESH:D008286"^^xsd:string) "General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients."^^xsd:string) AnnotationAssertion( "EFO:0009554"^^xsd:string) AnnotationAssertion( "MESH:D008286"^^xsd:string) AnnotationAssertion( "Malabsorption Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002984"^^xsd:string) AnnotationAssertion(rdfs:label "Malabsorption Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hapnes Boman Skeie Syndrome) AnnotationAssertion( "MESH:C536960"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002986"^^xsd:string) AnnotationAssertion(rdfs:label "Hapnes Boman Skeie Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Togaviridae Infections) AnnotationAssertion(Annotation( "MESH:D014036"^^xsd:string) "Virus diseases caused by the TOGAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007513"^^xsd:string) AnnotationAssertion( "MESH:D014036"^^xsd:string) AnnotationAssertion( "Togaviridae Disease"^^xsd:string) AnnotationAssertion( "Togaviridae Diseases"^^xsd:string) AnnotationAssertion( "Togaviridae Infection"^^xsd:string) AnnotationAssertion( "Togaviridae infectious disease"^^xsd:string) AnnotationAssertion( "Togavirus Infection"^^xsd:string) AnnotationAssertion( "Togavirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002987"^^xsd:string) AnnotationAssertion(rdfs:label "Togaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Orbital Myositis) AnnotationAssertion(Annotation( "MESH:D055622"^^xsd:string) "Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR."^^xsd:string) AnnotationAssertion( "EFO:1001819"^^xsd:string) AnnotationAssertion( "MESH:D055622"^^xsd:string) AnnotationAssertion( "orbital myositides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002988"^^xsd:string) AnnotationAssertion(rdfs:label "Orbital Myositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vasoplegia) AnnotationAssertion(Annotation( "MESH:D056987"^^xsd:string) "Condition of low SYSTEMIC VASCULAR RESISTANCE that develops secondary to other conditions such as ANAPHYLAXIS; SEPSIS; SURGICAL SHOCK; and SEPTIC SHOCK. Vasoplegia that develops during or post surgery (e.g., CARDIOPULMONARY BYPASS) is called postoperative vasoplegic syndrome or vasoplegic syndrome."^^xsd:string) AnnotationAssertion( "MESH:D056987"^^xsd:string) AnnotationAssertion( "Post operative Vasoplegic Syndrome"^^xsd:string) AnnotationAssertion( "Post-operative Vasoplegic Syndromes"^^xsd:string) AnnotationAssertion( "Postoperative Vasoplegic Syndrome"^^xsd:string) AnnotationAssertion( "Vasoplegias"^^xsd:string) AnnotationAssertion( "Vasoplegic Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002989"^^xsd:string) AnnotationAssertion(rdfs:label "Vasoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 17) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T13:03:31Z"^^xsd:string) AnnotationAssertion( "ATFB17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002990"^^xsd:string) AnnotationAssertion(rdfs:comment "is part of OMIM:611819, LQT10"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 17"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keutel Syndrome) AnnotationAssertion( "MIM:245150"^^xsd:string) AnnotationAssertion( "MESH:C536167"^^xsd:string) AnnotationAssertion( "KTLS"^^xsd:string) AnnotationAssertion( "Pulmonic stenosis, brachytelephalangism, and calcification of cartilages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002991"^^xsd:string) AnnotationAssertion(rdfs:label "Keutel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nematode Infections) AnnotationAssertion(Annotation( "MESH:D009349"^^xsd:string) "Infections by nematodes, general or unspecified."^^xsd:string) AnnotationAssertion( "EFO:0007391"^^xsd:string) AnnotationAssertion( "MESH:D009349"^^xsd:string) AnnotationAssertion( "Nematoda infectious disease"^^xsd:string) AnnotationAssertion( "Nematode Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002992"^^xsd:string) AnnotationAssertion(rdfs:label "Nematode Infections"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH) AnnotationAssertion(Annotation( "MIM:619323"^^xsd:string) "This disease is an autosomal recessive disorder with a highly variable phenotype. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. The disorder appears to comprise a continuum of evolving neurologic manifestations."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-16T15:42:39Z"^^xsd:string) AnnotationAssertion( "MIM:619323"^^xsd:string) AnnotationAssertion( "NEDSGO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002993"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pyruvate Metabolism, Inborn Errors) AnnotationAssertion(Annotation( "MESH:D015323"^^xsd:string) "Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders."^^xsd:string) AnnotationAssertion( "MESH:D015323"^^xsd:string) AnnotationAssertion( "RDO:0001760"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002994"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Metabolism, Inborn Errors"^^xsd:string) SubClassOf( ) # Class: (Conductive Stapedial Deafness with Ear Malformation and Facial Palsy) AnnotationAssertion( "MIM:124490"^^xsd:string) AnnotationAssertion( "MESH:C565123"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002995"^^xsd:string) AnnotationAssertion(rdfs:label "Conductive Stapedial Deafness with Ear Malformation and Facial Palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 13) AnnotationAssertion( "MIM:615377"^^xsd:string) AnnotationAssertion( "ATFB13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002996"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 13"^^xsd:string) SubClassOf( ) # Class: (Glossoptosis) AnnotationAssertion(Annotation( "MESH:D065710"^^xsd:string) "Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS)."^^xsd:string) AnnotationAssertion( "MESH:D065710"^^xsd:string) AnnotationAssertion( "Glossoptoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002997"^^xsd:string) AnnotationAssertion(rdfs:label "Glossoptosis"^^xsd:string) SubClassOf( ) # Class: (Weill-Marchesani Syndrome 1) AnnotationAssertion(Annotation( "MIM:277600"^^xsd:string) "This disease is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma,"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T10:38:50Z"^^xsd:string) AnnotationAssertion( "MIM:277600"^^xsd:string) AnnotationAssertion( "ADAMTS10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "WMS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002998"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Microphthalmia/Coloboma 7) AnnotationAssertion( "MIM:614497"^^xsd:string) AnnotationAssertion( "Isolated Microphthalmia with Coloboma 7"^^xsd:string) AnnotationAssertion( "MCOPC7"^^xsd:string) AnnotationAssertion( "MCOPCB7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9002999"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 7"^^xsd:string) SubClassOf( ) # Class: (Asthenia) AnnotationAssertion(Annotation( "MESH:D001247"^^xsd:string) "Clinical sign or symptom manifested as debility, or lack or loss of strength and energy."^^xsd:string) AnnotationAssertion( "EFO:0007625"^^xsd:string) AnnotationAssertion( "MESH:D001247"^^xsd:string) AnnotationAssertion( "Asthenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003000"^^xsd:string) AnnotationAssertion(rdfs:label "Asthenia"^^xsd:string) SubClassOf( ) # Class: (indeterminate colitis) AnnotationAssertion(Annotation( "EFO:1000034"^^xsd:string) "This pertains to colitis patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-02T14:51:29Z"^^xsd:string) AnnotationAssertion( "EFO:1000034"^^xsd:string) AnnotationAssertion( "colitis of indeterminate type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003001"^^xsd:string) AnnotationAssertion(rdfs:label "indeterminate colitis"^^xsd:string) SubClassOf( ) # Class: (Fetal Resorption) AnnotationAssertion(Annotation( "MESH:D005327"^^xsd:string) "The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS)."^^xsd:string) AnnotationAssertion( "MESH:D005327"^^xsd:string) AnnotationAssertion( "Fetal Resorptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003002"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Resorption"^^xsd:string) SubClassOf( ) # Class: (Skin and Connective Tissue Diseases) AnnotationAssertion( "A collective term for diseases of the skin and its appendages and of connective tissue."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "MESH:D017437"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003003"^^xsd:string) AnnotationAssertion(rdfs:label "Skin and Connective Tissue Diseases"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (MICROMELIA) AnnotationAssertion(Annotation( "HP:0002983"^^xsd:string) Annotation( "MP:0008736"^^xsd:string) "This developmental disease results in the presence of abnormally small extremities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-12T14:20:25Z"^^xsd:string) AnnotationAssertion( "Smaller or shorter than typical limbs"^^xsd:string) AnnotationAssertion( "nanomelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003004"^^xsd:string) AnnotationAssertion(rdfs:label "MICROMELIA"^^xsd:string) SubClassOf( ) # Class: (Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia) AnnotationAssertion( "MIM:211930"^^xsd:string) AnnotationAssertion( "MESH:C537974"^^xsd:string) AnnotationAssertion( "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003005"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ventricular Septal Defect 3) AnnotationAssertion( "MIM:614432"^^xsd:string) AnnotationAssertion( "MONDO:0013749"^^xsd:string) AnnotationAssertion( "VSD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003006"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Septal Defect 3"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Complex II Deficiency Nuclear Type 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-01T15:47:39Z"^^xsd:string) AnnotationAssertion( "MIM:619167"^^xsd:string) AnnotationAssertion( "MC2DN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003007"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex II Deficiency Nuclear Type 3"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Vessel Tumors) AnnotationAssertion(Annotation( "MESH:D018190"^^xsd:string) "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels."^^xsd:string) AnnotationAssertion( "EFO:1001032"^^xsd:string) AnnotationAssertion( "MESH:D018190"^^xsd:string) AnnotationAssertion( "Lymphatic Vessel Tumor"^^xsd:string) AnnotationAssertion( "malignant lymphatic vessel tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003008"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Vessel Tumors"^^xsd:string) SubClassOf( ) # Class: (Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation) AnnotationAssertion( "MESH:C565506"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003009"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 75) AnnotationAssertion(Annotation( "MIM:619949"^^xsd:string) "A disease characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage. Caused by homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-08T08:18:09Z"^^xsd:string) AnnotationAssertion( "MIM:619949"^^xsd:string) AnnotationAssertion( "SPGF75"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003010"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 75"^^xsd:string) SubClassOf( ) # Class: (CAMFAK Syndrome) AnnotationAssertion( "MIM:212540"^^xsd:string) AnnotationAssertion( "MESH:C537965"^^xsd:string) AnnotationAssertion( "Cataract-microcephaly-failure to thrive-kyphoscoliosis"^^xsd:string) AnnotationAssertion( "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003011"^^xsd:string) AnnotationAssertion(rdfs:label "CAMFAK Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rommen Mueller Sybert Syndrome) AnnotationAssertion( "MESH:C535871"^^xsd:string) AnnotationAssertion( "Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies"^^xsd:string) AnnotationAssertion( "Short stature, heart defect and craniofacial anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003012"^^xsd:string) AnnotationAssertion(rdfs:label "Rommen Mueller Sybert Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Alopecia and Brain Abnormalities) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-02T09:44:15Z"^^xsd:string) AnnotationAssertion( "MIM:619075"^^xsd:string) AnnotationAssertion( "BABS"^^xsd:string) AnnotationAssertion( "Bachmann-Bupp syndrome"^^xsd:string) AnnotationAssertion( "NEDABA"^^xsd:string) AnnotationAssertion( "Neurodevelopmental disorder with alopecia and brain imaging abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003013"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Alopecia and Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperglycemic Hyperosmolar Nonketotic Coma) AnnotationAssertion(Annotation( "MESH:D006944"^^xsd:string) "A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS."^^xsd:string) AnnotationAssertion( "MESH:D006944"^^xsd:string) AnnotationAssertion( "Hyperosmolar Hyperglycemic State"^^xsd:string) AnnotationAssertion( "Hyperosmolar Hyperglycemic States"^^xsd:string) AnnotationAssertion( "Hyperosmolar Hyperglycemic Syndrome"^^xsd:string) AnnotationAssertion( "Hyperosmolar Hyperglycemic Syndromes"^^xsd:string) AnnotationAssertion( "Hyperosmolar Nonketotic Coma"^^xsd:string) AnnotationAssertion( "Hyperosmolar Nonketotic Comas"^^xsd:string) AnnotationAssertion( "Nonketotic Hyperglycemic Coma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003014"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperglycemic Hyperosmolar Nonketotic Coma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aminoacylase 1 Deficiency) AnnotationAssertion( "MIM:609924"^^xsd:string) AnnotationAssertion( "EFO:1001981"^^xsd:string) AnnotationAssertion( "MESH:C538246"^^xsd:string) AnnotationAssertion( "RDO:0004197"^^xsd:string) AnnotationAssertion( "ACY1D"^^xsd:string) AnnotationAssertion( "Deficiency of the aminoacylase-1 enzyme"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003016"^^xsd:string) AnnotationAssertion(rdfs:label "Aminoacylase 1 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Say Barber Miller Syndrome) AnnotationAssertion( "MESH:C536618"^^xsd:string) AnnotationAssertion( "RDO:0002254"^^xsd:string) AnnotationAssertion( "Microcephaly hypogammaglobulinemia abnormal immunity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003017"^^xsd:string) AnnotationAssertion(rdfs:label "Say Barber Miller Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Halothane Hepatitis) AnnotationAssertion( "MIM:234350"^^xsd:string) AnnotationAssertion( "MESH:C562477"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003018"^^xsd:string) AnnotationAssertion(rdfs:label "Halothane Hepatitis"^^xsd:string) SubClassOf( ) # Class: (Mercaptolactate-Cysteine Disulfiduria) AnnotationAssertion( "MIM:249650"^^xsd:string) AnnotationAssertion( "MESH:C563085"^^xsd:string) AnnotationAssertion( "mixed disulfiduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003019"^^xsd:string) AnnotationAssertion(rdfs:label "Mercaptolactate-Cysteine Disulfiduria"^^xsd:string) SubClassOf( ) # Class: (Chemotherapy-Induced Febrile Neutropenia) AnnotationAssertion(Annotation( "MESH:D064146"^^xsd:string) "FEVER accompanied by a significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY."^^xsd:string) AnnotationAssertion( "MESH:D064146"^^xsd:string) AnnotationAssertion( "Chemotherapy-Induced Febrile Neutropenias"^^xsd:string) AnnotationAssertion( "Drug Induced Febrile Neutropenia"^^xsd:string) AnnotationAssertion( "Drug-Induced Febrile Neutropenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003020"^^xsd:string) AnnotationAssertion(rdfs:label "Chemotherapy-Induced Febrile Neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T08:34:04Z"^^xsd:string) AnnotationAssertion( "MIM:618284"^^xsd:string) AnnotationAssertion( "MCIDDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003021"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature-Obesity Syndrome) AnnotationAssertion( "MIM:269870"^^xsd:string) AnnotationAssertion( "MESH:C564821"^^xsd:string) AnnotationAssertion( "SSOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003022"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature-Obesity Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heart Rupture, Post-Infarction) AnnotationAssertion(Annotation( "MESH:D006342"^^xsd:string) "Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION."^^xsd:string) AnnotationAssertion( "MESH:D006342"^^xsd:string) AnnotationAssertion( "RDO:0005729"^^xsd:string) AnnotationAssertion( "Post-Infarction Cardiac Rupture"^^xsd:string) AnnotationAssertion( "Post-Infarction Cardiac Ruptures"^^xsd:string) AnnotationAssertion( "Post-Infarction Heart Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003023"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Rupture, Post-Infarction"^^xsd:string) SubClassOf( ) # Class: (Shapiro Syndrome) AnnotationAssertion( "MESH:C537594"^^xsd:string) AnnotationAssertion( "Shapiro's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003024"^^xsd:string) AnnotationAssertion(rdfs:label "Shapiro Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebroretinal Microangiopathy with Calcifications and Cysts) AnnotationAssertion( "MESH:C567401"^^xsd:string) AnnotationAssertion( "MIM:PS612199"^^xsd:string) AnnotationAssertion( "CRMCC"^^xsd:string) AnnotationAssertion( "Coats Plus Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003025"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebroretinal Microangiopathy with Calcifications and Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Alopecia X-Linked) AnnotationAssertion( "MESH:C535981"^^xsd:string) AnnotationAssertion( "Alopecia congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003026"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Alopecia X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation) AnnotationAssertion( "MIM:603572"^^xsd:string) AnnotationAssertion( "MESH:C566361"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003027"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, K) AnnotationAssertion( "MIM:608696"^^xsd:string) AnnotationAssertion( "MESH:C563873"^^xsd:string) AnnotationAssertion( "GLC1K"^^xsd:string) AnnotationAssertion( "Glaucoma, Primary Open Angle, Juvenile-Onset, 3"^^xsd:string) AnnotationAssertion( "JOAG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003028"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, K"^^xsd:string) SubClassOf( ) # Class: (Congenital Stridor) AnnotationAssertion( "RDO:0012539"^^xsd:string) AnnotationAssertion( "MESH:C563163"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003029"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Stridor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis) AnnotationAssertion( "MIM:614813"^^xsd:string) AnnotationAssertion( "SOFT"^^xsd:string) AnnotationAssertion( "SOFT Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003030"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteopetrosis and Infantile Neuroaxonal Dystrophy) AnnotationAssertion( "MESH:C536055"^^xsd:string) AnnotationAssertion( "RDO:0001470"^^xsd:string) AnnotationAssertion( "Infantile osteopetrosis and neuronal storage disease"^^xsd:string) AnnotationAssertion( "Prenatal axonal dystrophy and osteopetrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003031"^^xsd:string) AnnotationAssertion(rdfs:label "Osteopetrosis and Infantile Neuroaxonal Dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Undiagnosed Diseases) AnnotationAssertion(Annotation( "MESH:D000080842"^^xsd:string) "Rare and common diseases lacking a diagnosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T14:11:09Z"^^xsd:string) AnnotationAssertion( "MESH:D000080842"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003032"^^xsd:string) AnnotationAssertion(rdfs:label "Undiagnosed Diseases"^^xsd:string) SubClassOf( ) # Class: (Familial Joint Laxity) AnnotationAssertion( "MIM:147900"^^xsd:string) AnnotationAssertion( "MESH:C535884"^^xsd:string) AnnotationAssertion( "Articular hypermobility syndrome"^^xsd:string) AnnotationAssertion( "Familial joint instability syndrome"^^xsd:string) AnnotationAssertion( "Joint instability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003033"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Joint Laxity"^^xsd:string) SubClassOf( ) # Class: (Anti-N-Methyl-D-Aspartate Receptor Encephalitis) AnnotationAssertion(Annotation( "MESH:D060426"^^xsd:string) "Disorder characterized by symptoms of CATATONIA; HYPOVENTILATION; DYSKINESIAS; ENCEPHALITIS; and SEIZURES followed by a reduced CONSCIOUSNESS. It is often followed by a viral-like prodrome. Many cases are self-limiting and respond well to IMMUNOMODULATORY THERAPIES against the NMDA RECEPTORS antibodies."^^xsd:string) AnnotationAssertion( "MESH:D060426"^^xsd:string) AnnotationAssertion( "Anti NMDA Receptor Encephalitis"^^xsd:string) AnnotationAssertion( "Anti NMDAR Encephalitis"^^xsd:string) AnnotationAssertion( "Anti-N-Methyl-D-Aspartate Receptor Encephalitides"^^xsd:string) AnnotationAssertion( "Anti-NMDA Receptor Encephalitides"^^xsd:string) AnnotationAssertion( "Anti-NMDAR Encephalitides"^^xsd:string) AnnotationAssertion( "Non paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis"^^xsd:string) AnnotationAssertion( "Non paraneoplastic Anti NMDA Receptor Encephalitis"^^xsd:string) AnnotationAssertion( "Non paraneoplastic Anti NMDAR Encephalitis"^^xsd:string) AnnotationAssertion( "Non-paraneoplastic Anti-NMDAR Encephalitides"^^xsd:string) AnnotationAssertion( "Paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis"^^xsd:string) AnnotationAssertion( "Paraneoplastic Anti NMDA Receptor Encephalitis"^^xsd:string) AnnotationAssertion( "Paraneoplastic Anti NMDAR Encephalitis"^^xsd:string) AnnotationAssertion( "Paraneoplastic Anti-NMDAR Encephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003034"^^xsd:string) AnnotationAssertion(rdfs:label "Anti-N-Methyl-D-Aspartate Receptor Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease) AnnotationAssertion( "MIM:124950"^^xsd:string) AnnotationAssertion( "MESH:C565120"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003035"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oral Lichen Planus) AnnotationAssertion(Annotation( "MESH:D017676"^^xsd:string) "Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry)"^^xsd:string) AnnotationAssertion( "EFO:0008517"^^xsd:string) AnnotationAssertion( "MESH:D017676"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003036"^^xsd:string) AnnotationAssertion(rdfs:label "Oral Lichen Planus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Turner Syndrome-Associated Neurocognitive Phenotype) AnnotationAssertion( "MESH:C564058"^^xsd:string) AnnotationAssertion( "RDO:0013148"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003037"^^xsd:string) AnnotationAssertion(rdfs:label "Turner Syndrome-Associated Neurocognitive Phenotype"^^xsd:string) SubClassOf( ) # Class: (X Inactivation, Familial Skewed, 2) AnnotationAssertion( "MIM:300179"^^xsd:string) AnnotationAssertion( "MESH:C564572"^^xsd:string) AnnotationAssertion( "SXI2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003038"^^xsd:string) AnnotationAssertion(rdfs:label "X Inactivation, Familial Skewed, 2"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 76) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-12T11:24:09Z"^^xsd:string) AnnotationAssertion( "MIM:619164"^^xsd:string) AnnotationAssertion( "IMD76"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003039"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 76"^^xsd:string) SubClassOf( ) # Class: (Squamous Intraepithelial Lesions of the Cervix) AnnotationAssertion(Annotation( "MESH:D065310"^^xsd:string) "A cytological test finding often from PAP SMEARS that shows abnormal lesions of SQUAMOUS EPITHELIAL CELLS of the CERVIX. It is a diagnostic criterion used in the Bethesda System for UTERINE CERVICAL NEOPLASMS and represents the PAP TEST result that is abnormal. Although squamous intraepithelial lesions test result does not mean UTERINE CERVICAL NEOPLASMS it requires follow-ups (e.g., HPV DNA TESTS; and COLPOSCOPY)."^^xsd:string) AnnotationAssertion( "MESH:D065310"^^xsd:string) AnnotationAssertion( "RDO:0015971"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003040"^^xsd:string) AnnotationAssertion(rdfs:label "Squamous Intraepithelial Lesions of the Cervix"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3) AnnotationAssertion( "This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001317"^^xsd:string) AnnotationAssertion( "MIM:615938"^^xsd:string) AnnotationAssertion( "CCND2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MPPH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003041"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (male breast carcinoma) AnnotationAssertion(Annotation( "EFO:0006861"^^xsd:string) "This is a malignant neoplasm involving the male breast."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-09T17:52:54Z"^^xsd:string) AnnotationAssertion( "EFO:0006861"^^xsd:string) AnnotationAssertion( "carcinoma of the male breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003042"^^xsd:string) AnnotationAssertion(rdfs:label "male breast carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Selective Tooth Agenesis 10) AnnotationAssertion( "Agenesis of multiple teeth of the permanent dentition caused by homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-21T15:26:26Z"^^xsd:string) AnnotationAssertion( "MIM:620173"^^xsd:string) AnnotationAssertion( "STHAG10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003044"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 10"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Braddock-Carey Syndrome 1) AnnotationAssertion(Annotation( "MIM:619980"^^xsd:string) "Characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly. Is a contiguous gene deletion syndrome involving chromosome 21q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-01T08:32:40Z"^^xsd:string) AnnotationAssertion( "MIM:619980"^^xsd:string) AnnotationAssertion( "BRDCS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003046"^^xsd:string) AnnotationAssertion(rdfs:label "Braddock-Carey Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES) AnnotationAssertion(Annotation( "MIM:618727"^^xsd:string) "This disease is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-12T16:04:55Z"^^xsd:string) AnnotationAssertion( "MIM:618727"^^xsd:string) AnnotationAssertion( "EDFAOB"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003047"^^xsd:string) AnnotationAssertion(rdfs:label "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypophosphatemic Rickets and Hyperparathyroidism) AnnotationAssertion( "MIM:612089"^^xsd:string) AnnotationAssertion( "MESH:C567423"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003048"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophosphatemic Rickets and Hyperparathyroidism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Femur Head Necrosis) AnnotationAssertion(Annotation( "MESH:D005271"^^xsd:string) "Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."^^xsd:string) AnnotationAssertion( "MIM:608805"^^xsd:string) AnnotationAssertion( "MIM:617383"^^xsd:string) AnnotationAssertion( "EFO:1001930"^^xsd:string) AnnotationAssertion( "MESH:D005271"^^xsd:string) AnnotationAssertion( "NCI:C35447"^^xsd:string) AnnotationAssertion( "ANFH"^^xsd:string) AnnotationAssertion( "Aseptic Necrosis of Femur Head"^^xsd:string) AnnotationAssertion( "Avascular Necrosis Of Femoral Head, Primary"^^xsd:string) AnnotationAssertion( "Avascular Necrosis of Femur Head"^^xsd:string) AnnotationAssertion( "FEMORAL HEAD, ASEPTIC NECROSIS OF"^^xsd:string) AnnotationAssertion( "Femoral Head, Avascular Necrosis Of"^^xsd:string) AnnotationAssertion( "Femur Head Necroses"^^xsd:string) AnnotationAssertion( "Ischemic Necrosis Of Femoral Head"^^xsd:string) AnnotationAssertion( "osteonecrosis of femoral head"^^xsd:string) AnnotationAssertion( "ANFH1"^^xsd:string) AnnotationAssertion( "ANFH2"^^xsd:string) AnnotationAssertion( "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1"^^xsd:string) AnnotationAssertion( "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2"^^xsd:string) AnnotationAssertion( "idiopathic osteonecrosis of the femoral head"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003049"^^xsd:string) AnnotationAssertion(rdfs:label "Femur Head Necrosis"^^xsd:string) SubClassOf( ) # Class: (Multiple Exostoses Type I) AnnotationAssertion( "Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type I (EXT1) is caused by heterozygous mutation in the gene encoding exostosin-1 (EXT1) on chromosome 8q24. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:133700"^^xsd:string) AnnotationAssertion( "EXT"^^xsd:string) AnnotationAssertion( "EXT1"^^xsd:string) AnnotationAssertion( "hereditary multiple exostoses 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003050"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Exostoses Type I"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Multinodular Goiter 2) AnnotationAssertion( "MIM:300273"^^xsd:string) AnnotationAssertion( "MESH:C564546"^^xsd:string) AnnotationAssertion( "MNG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003052"^^xsd:string) AnnotationAssertion(rdfs:label "Multinodular Goiter 2"^^xsd:string) SubClassOf( ) # Class: (BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619534"^^xsd:string) "This disease is an autosomal recessive complex ciliopathy with multisystemic manifestations."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-07T13:59:06Z"^^xsd:string) AnnotationAssertion( "MIM:619534"^^xsd:string) AnnotationAssertion( "BRENS"^^xsd:string) AnnotationAssertion( "BRENS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003053"^^xsd:string) AnnotationAssertion(rdfs:label "BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kuster Syndrome) AnnotationAssertion( "MESH:C538126"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003054"^^xsd:string) AnnotationAssertion(rdfs:label "Kuster Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Complex II Deficiency Nuclear Type 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-01T15:43:02Z"^^xsd:string) AnnotationAssertion( "MIM:252011"^^xsd:string) AnnotationAssertion( "MC2DN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003055"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex II Deficiency Nuclear Type 1"^^xsd:string) SubClassOf( ) # Class: (Short-Rib Thoracic Dysplasia 20 with Polydactyly) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-01T10:20:43Z"^^xsd:string) AnnotationAssertion( "MIM:617925"^^xsd:string) AnnotationAssertion( "SRTD20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY, DIGENIC"^^xsd:string) AnnotationAssertion( "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC"^^xsd:string) AnnotationAssertion( "DOID:9003056"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Rib Thoracic Dysplasia 20 with Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Laryngeal Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061224"^^xsd:string) "Traumatic injuries to the LARYNGEAL NERVE."^^xsd:string) AnnotationAssertion( "MESH:D061224"^^xsd:string) AnnotationAssertion( "RDO:0010061"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Contusion"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Contusions"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Injury"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Transection"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Transections"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Trauma"^^xsd:string) AnnotationAssertion( "Laryngeal Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Laryngeal Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Laryngeal Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003057"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypodontia Oligodontia with Orofacial Cleft) AnnotationAssertion( "MESH:C566995"^^xsd:string) AnnotationAssertion( "RDO:0015185"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003058"^^xsd:string) AnnotationAssertion(rdfs:label "Hypodontia Oligodontia with Orofacial Cleft"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kifafa Seizure Disorder) AnnotationAssertion( "MIM:245180"^^xsd:string) AnnotationAssertion( "MESH:C537708"^^xsd:string) AnnotationAssertion( "Complex familial seizure disorder"^^xsd:string) AnnotationAssertion( "Vitsala"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003059"^^xsd:string) AnnotationAssertion(rdfs:label "Kifafa Seizure Disorder"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Jones Syndrome) AnnotationAssertion( "MIM:135550"^^xsd:string) AnnotationAssertion( "MESH:C535886"^^xsd:string) AnnotationAssertion( "fibromatosis gingival progressive deafness"^^xsd:string) AnnotationAssertion( "gingival fibromatosis with progressive deafness"^^xsd:string) AnnotationAssertion( "gingival fibromatosis with sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003062"^^xsd:string) AnnotationAssertion(rdfs:label "Jones Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebrohepatorenal Syndrome, Variant Types) AnnotationAssertion( "MESH:C565861"^^xsd:string) AnnotationAssertion( "Zellweger Syndrome, Variant Types"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003063"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrohepatorenal Syndrome, Variant Types"^^xsd:string) SubClassOf( ) # Class: (Bork Stender Schmidt Syndrome) AnnotationAssertion( "MIM:191482"^^xsd:string) AnnotationAssertion( "MESH:C536576"^^xsd:string) AnnotationAssertion( "Bork syndrome"^^xsd:string) AnnotationAssertion( "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003064"^^xsd:string) AnnotationAssertion(rdfs:label "Bork Stender Schmidt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia) AnnotationAssertion( "MESH:C564330"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003065"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intracranial Tuberculomas) AnnotationAssertion(Annotation( "MESH:D020306"^^xsd:string) "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals."^^xsd:string) AnnotationAssertion( "MESH:D016862"^^xsd:string) AnnotationAssertion( "intracranial tubercular abscess"^^xsd:string) AnnotationAssertion( "intracranial tuberculoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003066"^^xsd:string) AnnotationAssertion(rdfs:label "Intracranial Tuberculomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cervical Hypertrichosis with Underlying Kyphoscoliosis) AnnotationAssertion( "MIM:117850"^^xsd:string) AnnotationAssertion( "MESH:C566142"^^xsd:string) AnnotationAssertion( "Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003067"^^xsd:string) AnnotationAssertion(rdfs:label "Cervical Hypertrichosis with Underlying Kyphoscoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Frontonasal Dermoid Cysts) AnnotationAssertion( "MIM:600679"^^xsd:string) AnnotationAssertion( "MESH:C563455"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003068"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Frontonasal Dermoid Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tessadori-van Haaften Neurodevelopmental Syndrome 3) AnnotationAssertion(Annotation( "MIM:619950"^^xsd:string) "Characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. caused by heterozygous mutation in the H4C5 gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T10:56:15Z"^^xsd:string) AnnotationAssertion( "MIM:619950"^^xsd:string) AnnotationAssertion( "TEVANED3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003069"^^xsd:string) AnnotationAssertion(rdfs:label "Tessadori-van Haaften Neurodevelopmental Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature) AnnotationAssertion( "MIM:609037"^^xsd:string) AnnotationAssertion( "MESH:C563810"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003070"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postaxial Polydactyly) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-10T12:10:25Z"^^xsd:string) AnnotationAssertion( "MIM:PS174200"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE NONSYNDROMIC POSTAXIAL POLYDACTYLY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003071"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Iridocorneal Endothelial Syndrome) AnnotationAssertion(Annotation( "MESH:D057129"^^xsd:string) "A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. The abnormal cell movement plugs fluid outflow channels of the eye causing GLAUCOMA."^^xsd:string) AnnotationAssertion( "RDO:0007783"^^xsd:string) AnnotationAssertion( "MESH:D057129"^^xsd:string) AnnotationAssertion( "Dystrophy Endothelial Cornea"^^xsd:string) AnnotationAssertion( "Dystrophy Endothelial Corneas"^^xsd:string) AnnotationAssertion( "Iridocorneal Endothelial Syndromes"^^xsd:string) AnnotationAssertion( "Iris Atrophy with Corneal Edema and Glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003072"^^xsd:string) AnnotationAssertion(rdfs:label "Iridocorneal Endothelial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Organizing Pneumonia) AnnotationAssertion( "Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:04:25Z"^^xsd:string) AnnotationAssertion( "MESH:D000092124"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003073"^^xsd:string) AnnotationAssertion(rdfs:label "Organizing Pneumonia"^^xsd:string) SubClassOf( ) # Class: (Foreign Bodies) AnnotationAssertion(Annotation( "MESH:D005547"^^xsd:string) "Inanimate objects that become enclosed in the body."^^xsd:string) AnnotationAssertion( "EFO:0009525"^^xsd:string) AnnotationAssertion( "EFO:0009526"^^xsd:string) AnnotationAssertion( "MESH:D005547"^^xsd:string) AnnotationAssertion( "RDO:0004990"^^xsd:string) AnnotationAssertion( "Foreign Body"^^xsd:string) AnnotationAssertion( "Foreign Object"^^xsd:string) AnnotationAssertion( "Foreign Objects"^^xsd:string) AnnotationAssertion( "Gossypiboma"^^xsd:string) AnnotationAssertion( "Gossypibomas"^^xsd:string) AnnotationAssertion( "Retained Surgical Instrument"^^xsd:string) AnnotationAssertion( "Retained Surgical Instruments"^^xsd:string) AnnotationAssertion( "Retained Surgical Item"^^xsd:string) AnnotationAssertion( "Retained Surgical Items"^^xsd:string) AnnotationAssertion( "Retained Surgical Needle"^^xsd:string) AnnotationAssertion( "Retained Surgical Needles"^^xsd:string) AnnotationAssertion( "Retained Surgical Sponge"^^xsd:string) AnnotationAssertion( "Retained Surgical Sponges"^^xsd:string) AnnotationAssertion( "Retained Surgical Tool"^^xsd:string) AnnotationAssertion( "Retained Surgical Tools"^^xsd:string) AnnotationAssertion( "Textiloma"^^xsd:string) AnnotationAssertion( "Textilomas"^^xsd:string) AnnotationAssertion( "foreign body in gastrointestinal tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003074"^^xsd:string) AnnotationAssertion(rdfs:label "Foreign Bodies"^^xsd:string) SubClassOf( ) # Class: (Lamellar Ichthyosis, Autosomal Dominant Form) AnnotationAssertion( "MIM:146750"^^xsd:string) AnnotationAssertion( "MESH:C537263"^^xsd:string) AnnotationAssertion( "ADLI"^^xsd:string) AnnotationAssertion( "autosomal-dominant lamellar ichthyosis"^^xsd:string) AnnotationAssertion( "lamellar ichthyosis, dominant"^^xsd:string) AnnotationAssertion( "nonbullous ichthyosiform erythroderma, dominant form"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003075"^^xsd:string) AnnotationAssertion(rdfs:label "Lamellar Ichthyosis, Autosomal Dominant Form"^^xsd:string) SubClassOf( ) # Class: (Porokeratosis 9, Multiple Types) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene on chromosome 1q22 have been found to cause multiple types of porokeratosis (POROK9), which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616631"^^xsd:string) AnnotationAssertion( "MONDO:0014713"^^xsd:string) AnnotationAssertion( "POROK9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003076"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 9, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay) AnnotationAssertion( "MIM:188201"^^xsd:string) AnnotationAssertion( "MESH:C566053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003077"^^xsd:string) AnnotationAssertion(rdfs:label "Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abdominal Neoplasms) AnnotationAssertion(Annotation( "MESH:D000008"^^xsd:string) "New abnormal growth of tissue in the ABDOMEN."^^xsd:string) AnnotationAssertion( "MESH:D000008"^^xsd:string) AnnotationAssertion( "RDO:0001323"^^xsd:string) AnnotationAssertion( "Abdominal Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003078"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Dowling-Degos Disease 4) AnnotationAssertion( "POGLUT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615696"^^xsd:string) AnnotationAssertion( "DDD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003079"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos Disease 4"^^xsd:string) SubClassOf( ) # Class: (pulmonary amyloidosis) AnnotationAssertion(Annotation( "EFO:1001910"^^xsd:string) "Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-17T12:41:11Z"^^xsd:string) AnnotationAssertion( "EFO:1001910"^^xsd:string) AnnotationAssertion( "EFO:1001911"^^xsd:string) AnnotationAssertion( "amyloidosis of the lung"^^xsd:string) AnnotationAssertion( "pulmonary nodular amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003080"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary amyloidosis"^^xsd:string) SubClassOf( ) # Class: (Growth Retardation, Developmental Delay, Coarse Facies, and Early Death) AnnotationAssertion( "MIM:612938"^^xsd:string) AnnotationAssertion( "MESH:C567856"^^xsd:string) AnnotationAssertion( "GDFD"^^xsd:string) AnnotationAssertion( "GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003081"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Retardation, Developmental Delay, Coarse Facies, and Early Death"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ribbing Disease) AnnotationAssertion( "MIM:601477"^^xsd:string) AnnotationAssertion( "MESH:C537613"^^xsd:string) AnnotationAssertion( "hereditary multiple diaphyseal sclerosis"^^xsd:string) AnnotationAssertion( "multiple diaphyseal sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003082"^^xsd:string) AnnotationAssertion(rdfs:label "Ribbing Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Autosomal Recessive Microcephaly 25) AnnotationAssertion( "MCPH25 is caused by homozygous mutation in the MAP11 gene on chromosome 7q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-12T10:54:08Z"^^xsd:string) AnnotationAssertion( "MIM:618351"^^xsd:string) AnnotationAssertion( "MCPH25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003084"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 25"^^xsd:string) SubClassOf( ) # Class: (Neoplasms, Post-Traumatic) AnnotationAssertion(Annotation( "MESH:D017169"^^xsd:string) "Tumors, cancer or other neoplasms caused by or resulting from trauma or other non-radiation injuries."^^xsd:string) AnnotationAssertion( "MESH:D017169"^^xsd:string) AnnotationAssertion( "RDO:0007034"^^xsd:string) AnnotationAssertion( "Post Traumatic Cancer"^^xsd:string) AnnotationAssertion( "Post-Traumatic Cancers"^^xsd:string) AnnotationAssertion( "Post-Traumatic Malignancies"^^xsd:string) AnnotationAssertion( "Post-Traumatic Malignancy"^^xsd:string) AnnotationAssertion( "Post-Traumatic Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003085"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasms, Post-Traumatic"^^xsd:string) SubClassOf( ) # Class: (Congenital Nystagmus 8) AnnotationAssertion(Annotation( "MIM:257400"^^xsd:string) "A bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms, caused by homozygous mutation in the ROBO1 gene on chromosome 3p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-07T10:00:53Z"^^xsd:string) AnnotationAssertion( "MIM:257400"^^xsd:string) AnnotationAssertion( "NYS8"^^xsd:string) AnnotationAssertion( "congenital nystagmus 8, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003086"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Nystagmus 8"^^xsd:string) SubClassOf( ) # Class: (Al Kaissi Syndrome) AnnotationAssertion( "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9004998"^^xsd:string) AnnotationAssertion( "MIM:617694"^^xsd:string) AnnotationAssertion( "ALKAS"^^xsd:string) AnnotationAssertion( "GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003087"^^xsd:string) AnnotationAssertion(rdfs:label "Al Kaissi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1) AnnotationAssertion( "MIM:605594"^^xsd:string) AnnotationAssertion( "MESH:C565316"^^xsd:string) AnnotationAssertion( "DFNA39-Dentinogenesis Imperfecta 1 Syndrome"^^xsd:string) AnnotationAssertion( "DFNA39/DGI1 SYNDROME"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003089"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperreninemic Hypoaldosteronism, Familial, 2) AnnotationAssertion( "MIM:606984"^^xsd:string) AnnotationAssertion( "MESH:C564638"^^xsd:string) AnnotationAssertion( "FHHA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003090"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperreninemic Hypoaldosteronism, Familial, 2"^^xsd:string) SubClassOf( ) # Class: (Noonan Like Syndrome) AnnotationAssertion( "MESH:C537846"^^xsd:string) AnnotationAssertion( "NOONAN-LIKE DISORDER"^^xsd:string) AnnotationAssertion( "Noonan syndrome with pigmented villonodular synovitis"^^xsd:string) AnnotationAssertion( "Noonan-like syndrome disorder"^^xsd:string) AnnotationAssertion( "Noonan-like-multiple giant cell lesion syndrome"^^xsd:string) AnnotationAssertion( "Noonan-related syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003091"^^xsd:string) AnnotationAssertion(rdfs:label "Noonan Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency) AnnotationAssertion( "DOID:9001625"^^xsd:string) AnnotationAssertion( "MPGN II with Complement Factor H Deficiency"^^xsd:string) AnnotationAssertion( "Membranoproliferative Glomerulonephritis, Type Ii, With Complement Factor H Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003092"^^xsd:string) AnnotationAssertion(rdfs:label "Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia, Trichoodontoonychial Type) AnnotationAssertion( "MIM:129510"^^xsd:string) AnnotationAssertion( "MESH:C565068"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003093"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia, Trichoodontoonychial Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adult Refsum Disease, 1) AnnotationAssertion( "RDO:0012016"^^xsd:string) AnnotationAssertion( "MESH:C567602"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003094"^^xsd:string) AnnotationAssertion(rdfs:label "Adult Refsum Disease, 1"^^xsd:string) SubClassOf( ) # Class: (Aphonia) AnnotationAssertion(Annotation( "MESH:D001044"^^xsd:string) "Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes."^^xsd:string) AnnotationAssertion( "MESH:D001044"^^xsd:string) AnnotationAssertion( "Absence of Voice"^^xsd:string) AnnotationAssertion( "Aphonia Paralytica"^^xsd:string) AnnotationAssertion( "Functional Aphonia"^^xsd:string) AnnotationAssertion( "Functional Aphonias"^^xsd:string) AnnotationAssertion( "Nonorganic Aphonia"^^xsd:string) AnnotationAssertion( "Nonorganic Aphonias"^^xsd:string) AnnotationAssertion( "Spastic Aphonia"^^xsd:string) AnnotationAssertion( "Spastic Aphonias"^^xsd:string) AnnotationAssertion( "Voice Absence"^^xsd:string) AnnotationAssertion( "Voice Absences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003095"^^xsd:string) AnnotationAssertion(rdfs:label "Aphonia"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 4) AnnotationAssertion( "MIM:609271"^^xsd:string) AnnotationAssertion( "MESH:C563752"^^xsd:string) AnnotationAssertion( "KTCN4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003096"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 4"^^xsd:string) SubClassOf( ) # Class: (Benign Familial Hematuria 2) AnnotationAssertion( "A benign familial hematuria caused by heterozygous mutation in the COL4A3 gene on chromosome 2q36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T09:07:23Z"^^xsd:string) AnnotationAssertion( "MIM:620320"^^xsd:string) AnnotationAssertion( "BFH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003097"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Hematuria 2"^^xsd:string) SubClassOf( ) # Class: (Taurodontism) AnnotationAssertion( "MIM:272700"^^xsd:string) AnnotationAssertion( "MESH:C536946"^^xsd:string) AnnotationAssertion( "Bull teeth"^^xsd:string) AnnotationAssertion( "Large pulp chambers, in the molars"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003098"^^xsd:string) AnnotationAssertion(rdfs:label "Taurodontism"^^xsd:string) SubClassOf( ) # Class: (Gagging) AnnotationAssertion(Annotation( "MESH:D005683"^^xsd:string) "Contraction of the muscle of the PHARYNX caused by stimulation of sensory receptors on the SOFT PALATE, by psychic stimuli, or systemically by drugs."^^xsd:string) AnnotationAssertion( "MESH:D005683"^^xsd:string) AnnotationAssertion( "Pharyngeal Reflex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003099"^^xsd:string) AnnotationAssertion(rdfs:label "Gagging"^^xsd:string) SubClassOf( ) # Class: (Pancreatic Neoplasms) AnnotationAssertion( "EFO:0003860"^^xsd:string) AnnotationAssertion( "EFO:1000133"^^xsd:string) AnnotationAssertion( "NCI:C34035"^^xsd:string) AnnotationAssertion( "Pancreas Neoplasms"^^xsd:string) AnnotationAssertion( "pancreas neoplasm"^^xsd:string) AnnotationAssertion( "pancreatic neoplasm"^^xsd:string) AnnotationAssertion( "Borderline Exocrine Pancreatic Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003100"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spina Bifida, Folate-Sensitive) AnnotationAssertion( "MESH:C566648"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003101"^^xsd:string) AnnotationAssertion(rdfs:label "Spina Bifida, Folate-Sensitive"^^xsd:string) SubClassOf( ) # Class: (Parathyroid Gland Hyperplasia) AnnotationAssertion(Annotation( "NCI:C3989"^^xsd:string) "This is non-neoplastic proliferation of the parathyroid parenchymal cells in multiple parathyroid glands."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-27T10:34:51Z"^^xsd:string) AnnotationAssertion( "EFO:1000457"^^xsd:string) AnnotationAssertion( "Hyperplasia of Parathyroid"^^xsd:string) AnnotationAssertion( "Hyperplasia of the Parathyroid"^^xsd:string) AnnotationAssertion( "Parathyroid Hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003102"^^xsd:string) AnnotationAssertion(rdfs:label "Parathyroid Gland Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Intracranial Hemorrhages) AnnotationAssertion(Annotation( "MESH:D020300"^^xsd:string) "Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces."^^xsd:string) AnnotationAssertion( "EFO:0000551"^^xsd:string) AnnotationAssertion( "MESH:D020300"^^xsd:string) AnnotationAssertion( "Brain Hemorrhage"^^xsd:string) AnnotationAssertion( "Brain Hemorrhages"^^xsd:string) AnnotationAssertion( "Posterior Fossa Hemorrhage"^^xsd:string) AnnotationAssertion( "intracranial hemorrhage"^^xsd:string) AnnotationAssertion( "posterior fossa hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003104"^^xsd:string) AnnotationAssertion(rdfs:label "Intracranial Hemorrhages"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spirurida Infections) AnnotationAssertion(Annotation( "MESH:D017205"^^xsd:string) "Infections with nematodes of the order SPIRURIDA."^^xsd:string) AnnotationAssertion( "MESH:D017205"^^xsd:string) AnnotationAssertion( "Habronemiases"^^xsd:string) AnnotationAssertion( "Habronemiasis"^^xsd:string) AnnotationAssertion( "Spirurida Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003105"^^xsd:string) AnnotationAssertion(rdfs:label "Spirurida Infections"^^xsd:string) SubClassOf( ) # Class: (Renoprival Hypertension) AnnotationAssertion( "MESH:C537760"^^xsd:string) AnnotationAssertion( "RDO:0003657"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003106"^^xsd:string) AnnotationAssertion(rdfs:label "Renoprival Hypertension"^^xsd:string) SubClassOf( ) # Class: (Non Ketotic Hyperglycinemia Syndrome) AnnotationAssertion( "MESH:C000601856"^^xsd:string) AnnotationAssertion( "RDO:0016037"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003107"^^xsd:string) AnnotationAssertion(rdfs:label "Non Ketotic Hyperglycinemia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-10T14:56:54Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003108"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Familial Neonatal Seizures, 2) AnnotationAssertion( "MIM:121201"^^xsd:string) AnnotationAssertion( "RDO:0000592"^^xsd:string) AnnotationAssertion( "RDO:0015788"^^xsd:string) AnnotationAssertion( "autosomal dominant form of benign neonatal seizures"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions, dominant form"^^xsd:string) AnnotationAssertion( "benign familial neonatal seizures"^^xsd:string) AnnotationAssertion( "MESH:C535466"^^xsd:string) AnnotationAssertion( "BFNC2"^^xsd:string) AnnotationAssertion( "BFNS2"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions, 2"^^xsd:string) AnnotationAssertion( "benign neonatal epilepsy, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003109"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Neonatal Seizures, 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME) AnnotationAssertion(Annotation( "MIM:618877"^^xsd:string) "A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-10T11:10:53Z"^^xsd:string) AnnotationAssertion( "MIM:618877"^^xsd:string) AnnotationAssertion( "EIF2AK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LEUDEN"^^xsd:string) AnnotationAssertion( "LEUDEN SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003110"^^xsd:string) AnnotationAssertion(rdfs:label "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Growth Retardation, Small and Puffy Hands and Feet, and Eczema) AnnotationAssertion( "MIM:233810"^^xsd:string) AnnotationAssertion( "MESH:C565528"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003111"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Retardation, Small and Puffy Hands and Feet, and Eczema"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Human Bites) AnnotationAssertion(Annotation( "MESH:D001734"^^xsd:string) "Bites inflicted by humans."^^xsd:string) AnnotationAssertion( "MESH:D001734"^^xsd:string) AnnotationAssertion( "Human Bite"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003112"^^xsd:string) AnnotationAssertion(rdfs:label "Human Bites"^^xsd:string) SubClassOf( ) # Class: (Hearing Loss, Mixed Conductive-Sensorineural) AnnotationAssertion(Annotation( "MESH:D046089"^^xsd:string) "Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear."^^xsd:string) AnnotationAssertion( "MESH:D046089"^^xsd:string) AnnotationAssertion( "RDO:0007525"^^xsd:string) AnnotationAssertion( "Losses, Mixed Hearing"^^xsd:string) AnnotationAssertion( "Mixed Hearing Loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003113"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Loss, Mixed Conductive-Sensorineural"^^xsd:string) SubClassOf( ) # Class: (Reynolds Syndrome) AnnotationAssertion( "MIM:613471"^^xsd:string) AnnotationAssertion( "PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003114"^^xsd:string) AnnotationAssertion(rdfs:label "Reynolds Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Muscle Cramps, Familial) AnnotationAssertion( "MIM:158400"^^xsd:string) AnnotationAssertion( "MIM:218050"^^xsd:string) AnnotationAssertion( "MESH:C563563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003116"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Cramps, Familial"^^xsd:string) SubClassOf( ) # Class: (Zygomycosis) AnnotationAssertion(Annotation( "MESH:D020096"^^xsd:string) "Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification."^^xsd:string) AnnotationAssertion( "MESH:D020096"^^xsd:string) AnnotationAssertion( "RDO:0006146"^^xsd:string) AnnotationAssertion( "Entomophthoramycoses"^^xsd:string) AnnotationAssertion( "Entomophthoramycosis"^^xsd:string) AnnotationAssertion( "Phycomycoses"^^xsd:string) AnnotationAssertion( "Phycomycosis"^^xsd:string) AnnotationAssertion( "Zygomycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003117"^^xsd:string) AnnotationAssertion(rdfs:label "Zygomycosis"^^xsd:string) SubClassOf( ) # Class: (Testicular Germ Cell Tumor 1) AnnotationAssertion( "MIM:300228"^^xsd:string) AnnotationAssertion( "MESH:C564559"^^xsd:string) AnnotationAssertion( "TGCT1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003118"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Germ Cell Tumor 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nonsyndromic Oculocutaneous Albinism) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-22T15:08:06Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003119"^^xsd:string) AnnotationAssertion(rdfs:label "Nonsyndromic Oculocutaneous Albinism"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease with Type D Brachydactyly) AnnotationAssertion( "MIM:306980"^^xsd:string) AnnotationAssertion( "MESH:C538319"^^xsd:string) AnnotationAssertion( "Familial Hirschsprung's disease and type D brachydactyly"^^xsd:string) AnnotationAssertion( "Hirschsprung Disease Type D Brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003120"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease with Type D Brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thromboembolism) AnnotationAssertion(Annotation( "MESH:D013923"^^xsd:string) "Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream."^^xsd:string) AnnotationAssertion( "MESH:D013923"^^xsd:string) AnnotationAssertion( "Thromboembolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003121"^^xsd:string) AnnotationAssertion(rdfs:label "Thromboembolism"^^xsd:string) SubClassOf( ) # Class: (Rhabdomyoma) AnnotationAssertion(Annotation( "MESH:D012207"^^xsd:string) "A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)"^^xsd:string) AnnotationAssertion( "MESH:D012207"^^xsd:string) AnnotationAssertion( "Rhabdomyomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003122"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabdomyoma"^^xsd:string) SubClassOf( ) # Class: (Theodor Hertz Goodman Syndrome) AnnotationAssertion( "MESH:C536509"^^xsd:string) AnnotationAssertion( "Symphalangism, short stature, skeletal anomalies, and accessory testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003123"^^xsd:string) AnnotationAssertion(rdfs:label "Theodor Hertz Goodman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Labrune Syndrome) AnnotationAssertion( "MIM:614561"^^xsd:string) AnnotationAssertion( "MESH:C000598644"^^xsd:string) AnnotationAssertion( "LCC"^^xsd:string) AnnotationAssertion( "leukoencephalopathy, brain calcifications and cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003124"^^xsd:string) AnnotationAssertion(rdfs:label "Labrune Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Male Genital Neoplasms) AnnotationAssertion(Annotation( "MESH:D005834"^^xsd:string) "Tumor or cancer of the MALE GENITALIA."^^xsd:string) AnnotationAssertion( "RDO:0005657"^^xsd:string) AnnotationAssertion( "MESH:D005834"^^xsd:string) AnnotationAssertion( "male genital neoplasm"^^xsd:string) AnnotationAssertion( "male reproductive system neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of male genital organ"^^xsd:string) AnnotationAssertion( "tumor of male reproductive system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003125"^^xsd:string) AnnotationAssertion(rdfs:label "Male Genital Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hallucinations) AnnotationAssertion(Annotation( "MESH:D006212"^^xsd:string) "Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS."^^xsd:string) AnnotationAssertion( "MESH:D006212"^^xsd:string) AnnotationAssertion( "Auditory Hallucination"^^xsd:string) AnnotationAssertion( "Auditory Hallucinations"^^xsd:string) AnnotationAssertion( "Body Sensation Hallucination"^^xsd:string) AnnotationAssertion( "Body Sensation Hallucinations"^^xsd:string) AnnotationAssertion( "Dissociative Hallucination"^^xsd:string) AnnotationAssertion( "Dissociative Hallucinations"^^xsd:string) AnnotationAssertion( "Elementary Hallucination"^^xsd:string) AnnotationAssertion( "Elementary Hallucinations"^^xsd:string) AnnotationAssertion( "Gustatory Hallucination"^^xsd:string) AnnotationAssertion( "Gustatory Hallucinations"^^xsd:string) AnnotationAssertion( "Hallucination"^^xsd:string) AnnotationAssertion( "Hallucination of Body Sensation"^^xsd:string) AnnotationAssertion( "Hallucinations, Formed, of People"^^xsd:string) AnnotationAssertion( "Hallucinations, Internal Body Sensation"^^xsd:string) AnnotationAssertion( "Hallucinations, Visual, Formed"^^xsd:string) AnnotationAssertion( "Hallucinations, Visual, Unformed"^^xsd:string) AnnotationAssertion( "Hypnagogic Hallucination"^^xsd:string) AnnotationAssertion( "Hypnagogic Hallucinations"^^xsd:string) AnnotationAssertion( "Hypnapompic Hallucination"^^xsd:string) AnnotationAssertion( "Hypnapompic Hallucinations"^^xsd:string) AnnotationAssertion( "Kinesthetic Hallucination"^^xsd:string) AnnotationAssertion( "Kinesthetic Hallucinations"^^xsd:string) AnnotationAssertion( "Mood Congruent Hallucination"^^xsd:string) AnnotationAssertion( "Mood Congruent Hallucinations"^^xsd:string) AnnotationAssertion( "Mood Incongruent Hallucination"^^xsd:string) AnnotationAssertion( "Mood Incongruent Hallucinations"^^xsd:string) AnnotationAssertion( "Olfactory Hallucination"^^xsd:string) AnnotationAssertion( "Olfactory Hallucinations"^^xsd:string) AnnotationAssertion( "Organic Hallucination"^^xsd:string) AnnotationAssertion( "Organic Hallucinations"^^xsd:string) AnnotationAssertion( "Reflex Hallucination"^^xsd:string) AnnotationAssertion( "Reflex Hallucinations"^^xsd:string) AnnotationAssertion( "Sensory Hallucination"^^xsd:string) AnnotationAssertion( "Sensory Hallucinations"^^xsd:string) AnnotationAssertion( "Somatic Hallucination"^^xsd:string) AnnotationAssertion( "Somatic Hallucinations"^^xsd:string) AnnotationAssertion( "Tactile Hallucination"^^xsd:string) AnnotationAssertion( "Tactile Hallucinations"^^xsd:string) AnnotationAssertion( "Verbal Auditory Hallucination"^^xsd:string) AnnotationAssertion( "Verbal Auditory Hallucinations"^^xsd:string) AnnotationAssertion( "Visual Hallucination"^^xsd:string) AnnotationAssertion( "Visual Hallucinations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003126"^^xsd:string) AnnotationAssertion(rdfs:label "Hallucinations"^^xsd:string) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 11) AnnotationAssertion( "MIM:612271"^^xsd:string) AnnotationAssertion( "MESH:C567374"^^xsd:string) AnnotationAssertion( "Melanesian Blond Hair"^^xsd:string) AnnotationAssertion( "SHEP11"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003127"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 11"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ectopic Tooth Eruption) AnnotationAssertion(Annotation( "MESH:D014079"^^xsd:string) "An abnormality in the direction of a TOOTH ERUPTION."^^xsd:string) AnnotationAssertion( "MESH:D014079"^^xsd:string) AnnotationAssertion( "Ectopic Tooth Eruptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003128"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopic Tooth Eruption"^^xsd:string) SubClassOf( ) # Class: (Chromosome 3, Monosomy 3p25) AnnotationAssertion( "MESH:C536807"^^xsd:string) AnnotationAssertion( "RDO:0002499"^^xsd:string) AnnotationAssertion( "Deletion 3p25"^^xsd:string) AnnotationAssertion( "Monosomy 3p25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003129"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3p25"^^xsd:string) SubClassOf( ) # Class: (Russell-Silver Syndrome, X-Linked) AnnotationAssertion( "MIM:312780"^^xsd:string) AnnotationAssertion( "MESH:C562446"^^xsd:string) AnnotationAssertion( "Russell-Silver-Like Syndrome with Skin Pigmentation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003130"^^xsd:string) AnnotationAssertion(rdfs:label "Russell-Silver Syndrome, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myocardial Contusions) AnnotationAssertion(Annotation( "MESH:D000071956"^^xsd:string) "Bruise to the heart muscle due to blunt thoracic trauma. "^^xsd:string) AnnotationAssertion( "MESH:D000071956"^^xsd:string) AnnotationAssertion( "RDO:0016111"^^xsd:string) AnnotationAssertion( "Blunt Cardiac Injuries"^^xsd:string) AnnotationAssertion( "Blunt Cardiac Injury"^^xsd:string) AnnotationAssertion( "Cardiac Contusion"^^xsd:string) AnnotationAssertion( "Cardiac Contusions"^^xsd:string) AnnotationAssertion( "Contusio Cordis"^^xsd:string) AnnotationAssertion( "Heart Contusion"^^xsd:string) AnnotationAssertion( "Heart Contusions"^^xsd:string) AnnotationAssertion( "Myocardial Contusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003131"^^xsd:string) AnnotationAssertion(rdfs:label "Myocardial Contusions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sialorrhea) AnnotationAssertion(Annotation( "MESH:D012798"^^xsd:string) "Increased salivary flow."^^xsd:string) AnnotationAssertion( "MESH:D012798"^^xsd:string) AnnotationAssertion( "Drooling"^^xsd:string) AnnotationAssertion( "Hypersalivation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003132"^^xsd:string) AnnotationAssertion(rdfs:label "Sialorrhea"^^xsd:string) SubClassOf( ) # Class: (Hypertelorism) AnnotationAssertion(Annotation( "MESH:D006972"^^xsd:string) "Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid."^^xsd:string) AnnotationAssertion( "MIM:145400"^^xsd:string) AnnotationAssertion( "MESH:D006972"^^xsd:string) AnnotationAssertion( "Hypertelorisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003133"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertelorism"^^xsd:string) SubClassOf( ) # Class: (tracheal neoplasm) AnnotationAssertion(Annotation( "EFO:1001437"^^xsd:string) "This is a new abnormal growth of tissue that involves the trachea."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-13T14:00:25Z"^^xsd:string) AnnotationAssertion( "neoplasm of trachea"^^xsd:string) AnnotationAssertion( "trachea neoplasm"^^xsd:string) AnnotationAssertion( "trachea tumor"^^xsd:string) AnnotationAssertion( "tracheal tumor"^^xsd:string) AnnotationAssertion( "tumor of trachea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EFO:1001437"^^xsd:string) AnnotationAssertion( "DOID:9003134"^^xsd:string) AnnotationAssertion(rdfs:label "tracheal neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8, Mosaic Trisomy) AnnotationAssertion( "MESH:C537940"^^xsd:string) AnnotationAssertion( "Trisomy 8 Mosaicism"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003135"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Mosaic Trisomy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Acne Inversa 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:02:31Z"^^xsd:string) AnnotationAssertion( "MIM:142690"^^xsd:string) AnnotationAssertion( "ACNINV1"^^xsd:string) AnnotationAssertion( "NCSTN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003136"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Acne Inversa 1"^^xsd:string) SubClassOf( ) # Class: (Photophobia) AnnotationAssertion(Annotation( "MESH:D020795"^^xsd:string) "Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS."^^xsd:string) AnnotationAssertion( "MESH:D020795"^^xsd:string) AnnotationAssertion( "RDO:0001514"^^xsd:string) AnnotationAssertion( "Light Sensitivities"^^xsd:string) AnnotationAssertion( "Light Sensitivity"^^xsd:string) AnnotationAssertion( "Photophobias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003137"^^xsd:string) AnnotationAssertion(rdfs:label "Photophobia"^^xsd:string) SubClassOf( ) # Class: (Familial Multiple Coagulation Factor Deficiency VI) AnnotationAssertion( "MIM:134540"^^xsd:string) AnnotationAssertion( "MESH:C565022"^^xsd:string) AnnotationAssertion( "FMFD VI"^^xsd:string) AnnotationAssertion( "MCFD6"^^xsd:string) AnnotationAssertion( "Multiple Coagulation Factor Deficiency VI"^^xsd:string) AnnotationAssertion( "combined deficiency of factor IX and factor XI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003138"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Coagulation Factor Deficiency VI"^^xsd:string) SubClassOf( ) # Class: (Cardiac Fibrosis) AnnotationAssertion( "A pathological condition where fibrous connective tissue invades the heart, usually as a consequence of inflammation or other injury."^^xsd:string) AnnotationAssertion( "heart fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atrial fibrosis"^^xsd:string) AnnotationAssertion( "myocardial fibrosis"^^xsd:string) AnnotationAssertion( "DOID:9003139"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peptide Growth Factors Deficiency) AnnotationAssertion( "MESH:C536656"^^xsd:string) AnnotationAssertion( "RDO:0002297"^^xsd:string) AnnotationAssertion( "Hoepffner dreyer reimers syndrome"^^xsd:string) AnnotationAssertion( "Peptidic growth factors deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003140"^^xsd:string) AnnotationAssertion(rdfs:label "Peptide Growth Factors Deficiency"^^xsd:string) SubClassOf( ) # Class: (Acquired Pure Megakaryocytic Aplasia) AnnotationAssertion( "MESH:C538176"^^xsd:string) AnnotationAssertion( "RDO:0004118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003141"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Pure Megakaryocytic Aplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Massa Casaer Ceulemans Syndrome) AnnotationAssertion( "MESH:C536031"^^xsd:string) AnnotationAssertion( "RDO:0001443"^^xsd:string) AnnotationAssertion( "Arthrogryposis multiplex congenita associated with lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003142"^^xsd:string) AnnotationAssertion(rdfs:label "Massa Casaer Ceulemans Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperparathyroidism 4) AnnotationAssertion( "MIM:617343"^^xsd:string) AnnotationAssertion( "HRPT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003143"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperparathyroidism 4"^^xsd:string) SubClassOf( ) # Class: (Jejunal Diseases) AnnotationAssertion(Annotation( "MESH:D007579"^^xsd:string) "Pathological development in the JEJUNUM region of the SMALL INTESTINE."^^xsd:string) AnnotationAssertion( "MESH:D007579"^^xsd:string) AnnotationAssertion( "Jejunal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003144"^^xsd:string) AnnotationAssertion(rdfs:label "Jejunal Diseases"^^xsd:string) SubClassOf( ) # Class: (Nuchal Bleb, Familial) AnnotationAssertion( "MIM:257350"^^xsd:string) AnnotationAssertion( "RDO:0003764"^^xsd:string) AnnotationAssertion( "MESH:C537852"^^xsd:string) AnnotationAssertion( "Fetal cystic hygroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003145"^^xsd:string) AnnotationAssertion(rdfs:label "Nuchal Bleb, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uterine Rupture) AnnotationAssertion(Annotation( "MESH:D014597"^^xsd:string) "A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction."^^xsd:string) AnnotationAssertion( "MESH:D014597"^^xsd:string) AnnotationAssertion( "Uterine Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003146"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Rupture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Dwarfism with Muscle Spasms) AnnotationAssertion( "MIM:600771"^^xsd:string) AnnotationAssertion( "MESH:C563447"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003148"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Dwarfism with Muscle Spasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (2-Methylbutyryl-CoA Dehydrogenase Deficiency) AnnotationAssertion( "MIM:610006"^^xsd:string) AnnotationAssertion( "GARD:10322"^^xsd:string) AnnotationAssertion( "MESH:C566487"^^xsd:string) AnnotationAssertion( "ORDO:79157"^^xsd:string) AnnotationAssertion( "2-MBCD Deficiency"^^xsd:string) AnnotationAssertion( "2-Methylbutyryl Glycinuria"^^xsd:string) AnnotationAssertion( "2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "2-methylbutyric aciduria"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF 2-METHYLBUTYRYL-COA DEHYDROGENASE"^^xsd:string) AnnotationAssertion( "SBCAD deficiency"^^xsd:string) AnnotationAssertion( "SBCADD"^^xsd:string) AnnotationAssertion( "short-branched-chain acyl-CoA dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003149"^^xsd:string) AnnotationAssertion(rdfs:label "2-Methylbutyryl-CoA Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Brenner Tumor) AnnotationAssertion( "A smooth, solid or cystic fibroepithelial (FIBROEPITHELIAL NEOPLASMS) tumor, usually found in the OVARIES but can also be found in the adnexal region and the KIDNEYS. It consists of a fibrous stroma with nests of epithelial cells that sometimes resemble the transitional cells lining the urinary bladder. Brenner tumors generally are benign and asymptomatic. Malignant Brenner tumors have been reported."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D001948"^^xsd:string) AnnotationAssertion( "proliferative Brenner tumor"^^xsd:string) AnnotationAssertion( "benign Brenner tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003150"^^xsd:string) AnnotationAssertion(rdfs:label "Brenner Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopathy, Actin, Congenital, with Excess of Thin Myofilaments) AnnotationAssertion( "MESH:C563529"^^xsd:string) AnnotationAssertion( "RDO:0012762"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003151"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy, Actin, Congenital, with Excess of Thin Myofilaments"^^xsd:string) SubClassOf( ) # Class: (RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES) AnnotationAssertion(Annotation( "MIM:618821"^^xsd:string) "A disease characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-17T17:38:40Z"^^xsd:string) AnnotationAssertion( "MIM:618821"^^xsd:string) AnnotationAssertion( "RLSDF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003152"^^xsd:string) AnnotationAssertion(rdfs:label "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FUCOSYLTRANSFERASE 6 DEFICIENCY) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:613852"^^xsd:string) AnnotationAssertion( "RDO:9001362"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003153"^^xsd:string) AnnotationAssertion(rdfs:label "FUCOSYLTRANSFERASE 6 DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Nodding Syndrome) AnnotationAssertion(Annotation( "MESH:D064128"^^xsd:string) "Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline."^^xsd:string) AnnotationAssertion( "MESH:D064128"^^xsd:string) AnnotationAssertion( "RDO:0015832"^^xsd:string) AnnotationAssertion( "Nodding Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003154"^^xsd:string) AnnotationAssertion(rdfs:label "Nodding Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parasitic Liver Diseases) AnnotationAssertion(Annotation( "MESH:D008109"^^xsd:string) "Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA)."^^xsd:string) AnnotationAssertion( "MESH:D008109"^^xsd:string) AnnotationAssertion( "Parasitic Liver Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003155"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Liver Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 13) AnnotationAssertion( "MESH:C566625"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003156"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 13"^^xsd:string) SubClassOf( ) # Class: (Respiratory Sounds) AnnotationAssertion(Annotation( "MESH:D012135"^^xsd:string) "Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT."^^xsd:string) AnnotationAssertion( "EFO:0009715"^^xsd:string) AnnotationAssertion( "MESH:D012135"^^xsd:string) AnnotationAssertion( "RDO:0006477"^^xsd:string) AnnotationAssertion( "Breathing Sound"^^xsd:string) AnnotationAssertion( "Breathing Sounds"^^xsd:string) AnnotationAssertion( "Crackle"^^xsd:string) AnnotationAssertion( "Crackles"^^xsd:string) AnnotationAssertion( "Lung Sound"^^xsd:string) AnnotationAssertion( "Lung Sounds"^^xsd:string) AnnotationAssertion( "Pleural Rub"^^xsd:string) AnnotationAssertion( "Pleural Rubs"^^xsd:string) AnnotationAssertion( "Rale"^^xsd:string) AnnotationAssertion( "Rales"^^xsd:string) AnnotationAssertion( "Respiratory Sound"^^xsd:string) AnnotationAssertion( "Rhonchi"^^xsd:string) AnnotationAssertion( "Rhonchus"^^xsd:string) AnnotationAssertion( "Stridor"^^xsd:string) AnnotationAssertion( "Stridors"^^xsd:string) AnnotationAssertion( "Wheezing"^^xsd:string) AnnotationAssertion( "Wheezings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003157"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Sounds"^^xsd:string) SubClassOf( ) # Class: (Chromosome 6, monosomy 6q2) AnnotationAssertion( "MESH:C537809"^^xsd:string) AnnotationAssertion( "RDO:0003713"^^xsd:string) AnnotationAssertion( "Deletion 6q2"^^xsd:string) AnnotationAssertion( "Monosomy 6q2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003158"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, monosomy 6q2"^^xsd:string) SubClassOf( ) # Class: (Nonsyndromic Deafness, Modifier 1) AnnotationAssertion( "RDO:0008979"^^xsd:string) AnnotationAssertion( "MIM:605429"^^xsd:string) AnnotationAssertion( "DFNM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003159"^^xsd:string) AnnotationAssertion(rdfs:label "Nonsyndromic Deafness, Modifier 1"^^xsd:string) SubClassOf( ) # Class: (Pancytopenia and Occlusive Vascular Disease) AnnotationAssertion( "MIM:167850"^^xsd:string) AnnotationAssertion( "MESH:C566836"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003160"^^xsd:string) AnnotationAssertion(rdfs:label "Pancytopenia and Occlusive Vascular Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Sulfhemoglobinemia) AnnotationAssertion( "MIM:185460"^^xsd:string) AnnotationAssertion( "MESH:C566102"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003162"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Sulfhemoglobinemia"^^xsd:string) SubClassOf( ) # Class: (Heart Block) AnnotationAssertion(Annotation( "MESH:D006327"^^xsd:string) "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects."^^xsd:string) AnnotationAssertion( "MIM:209600"^^xsd:string) AnnotationAssertion( "MESH:D006327"^^xsd:string) AnnotationAssertion( "A V Dissociation"^^xsd:string) AnnotationAssertion( "A-V Dissociations"^^xsd:string) AnnotationAssertion( "Atrioventricular Dissociation"^^xsd:string) AnnotationAssertion( "Atrioventricular Dissociations"^^xsd:string) AnnotationAssertion( "Auriculo Ventricular Dissociation"^^xsd:string) AnnotationAssertion( "Auriculo-Ventricular Dissociations"^^xsd:string) AnnotationAssertion( "CONDUCTION DISORDER OF THE HEART"^^xsd:string) AnnotationAssertion( "Heart Blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003163"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Block"^^xsd:string) SubClassOf( ) # Class: (Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus) AnnotationAssertion( "MIM:611808"^^xsd:string) AnnotationAssertion( "MESH:C567519"^^xsd:string) AnnotationAssertion( "ETINPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003164"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Miosis) AnnotationAssertion(Annotation( "MESH:D015877"^^xsd:string) "Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA."^^xsd:string) AnnotationAssertion( "MESH:D015877"^^xsd:string) AnnotationAssertion( "Constricted Pupil"^^xsd:string) AnnotationAssertion( "Constricted Pupils"^^xsd:string) AnnotationAssertion( "Mioses"^^xsd:string) AnnotationAssertion( "Persistent Mioses"^^xsd:string) AnnotationAssertion( "Persistent Miosis"^^xsd:string) AnnotationAssertion( "Pupillary Mioses"^^xsd:string) AnnotationAssertion( "Pupillary Miosis"^^xsd:string) AnnotationAssertion( "Small Pupil"^^xsd:string) AnnotationAssertion( "Small Pupils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003165"^^xsd:string) AnnotationAssertion(rdfs:label "Miosis"^^xsd:string) SubClassOf( ) # Class: (Corticosteroid-Binding Globulin, Elevated) AnnotationAssertion( "MESH:C566934"^^xsd:string) AnnotationAssertion( "RDO:0015142"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003166"^^xsd:string) AnnotationAssertion(rdfs:label "Corticosteroid-Binding Globulin, Elevated"^^xsd:string) SubClassOf( ) # Class: (Submacular Cysticercosis) AnnotationAssertion( "MESH:C531662"^^xsd:string) AnnotationAssertion( "RDO:0000089"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003167"^^xsd:string) AnnotationAssertion(rdfs:label "Submacular Cysticercosis"^^xsd:string) SubClassOf( ) # Class: (Diarrhea prodrome + Hemolytic-Uremic Syndrome) AnnotationAssertion( "MESH:C531700"^^xsd:string) AnnotationAssertion( "Diarrhea prodrome + HUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003168"^^xsd:string) AnnotationAssertion(rdfs:label "Diarrhea prodrome + Hemolytic-Uremic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Presenile Dementia, Kraepelin Type) AnnotationAssertion( "MIM:176600"^^xsd:string) AnnotationAssertion( "MESH:C535273"^^xsd:string) AnnotationAssertion( "Catatonia of Kraepelin"^^xsd:string) AnnotationAssertion( "Kraepelin disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003169"^^xsd:string) AnnotationAssertion(rdfs:label "Presenile Dementia, Kraepelin Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mungan Syndrome) AnnotationAssertion( "MIM:611376"^^xsd:string) AnnotationAssertion( "RAD21-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C548078"^^xsd:string) AnnotationAssertion( "MGS"^^xsd:string) AnnotationAssertion( "chronic idiopathic intestinal pseudoobstruction, with Barrett esophagus and cardiac abnormalities"^^xsd:string) AnnotationAssertion( "familial visceral neuromyopathy, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003170"^^xsd:string) AnnotationAssertion(rdfs:label "Mungan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Dysautonomias) AnnotationAssertion(Annotation( "MESH:D054969"^^xsd:string) "Disorders of the AUTONOMIC NERVOUS SYSTEM occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the BLOOD PRESSURE and HEART RATE."^^xsd:string) AnnotationAssertion( "MESH:D054969"^^xsd:string) AnnotationAssertion( "dysautonomia"^^xsd:string) AnnotationAssertion( "dysautonomias"^^xsd:string) AnnotationAssertion( "primary dysautonomia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003171"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Dysautonomias"^^xsd:string) SubClassOf( ) # Class: (X-Linked Modifier for Neurofunctional Defects) AnnotationAssertion( "MIM:309840"^^xsd:string) AnnotationAssertion( "MESH:C564098"^^xsd:string) AnnotationAssertion( "Tourette Syndrome, Modifier of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003172"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Modifier for Neurofunctional Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Desmin Storage Myopathy) AnnotationAssertion( "MESH:C536103"^^xsd:string) AnnotationAssertion( "Cardiomyopathy due to desmin defect"^^xsd:string) AnnotationAssertion( "Myopathy with sarcoplasmic bodies and intermediate filaments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003173"^^xsd:string) AnnotationAssertion(rdfs:label "Desmin Storage Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Second Metatarsal-Metacarpal Syndrome) AnnotationAssertion( "MIM:269630"^^xsd:string) AnnotationAssertion( "MESH:C564824"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003174"^^xsd:string) AnnotationAssertion(rdfs:label "Second Metatarsal-Metacarpal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bartonellaceae Infections) AnnotationAssertion(Annotation( "MESH:D001476"^^xsd:string) "Infections with bacteria of the family BARTONELLACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001125"^^xsd:string) AnnotationAssertion( "MESH:D001476"^^xsd:string) AnnotationAssertion( "Bartonellaceae Infection"^^xsd:string) AnnotationAssertion( "primary Bartonellaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003175"^^xsd:string) AnnotationAssertion(rdfs:label "Bartonellaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Familial Melanoma, Malignant Intraocular) AnnotationAssertion( "MIM:155700"^^xsd:string) AnnotationAssertion( "MESH:C563596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003176"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Melanoma, Malignant Intraocular"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kowarski Syndrome) AnnotationAssertion( "MIM:262650"^^xsd:string) AnnotationAssertion( "MESH:C537505"^^xsd:string) AnnotationAssertion( "BIODEFECTIVE GROWTH HORMONE"^^xsd:string) AnnotationAssertion( "Nanism due to growth hormone qualitative anomaly"^^xsd:string) AnnotationAssertion( "Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin"^^xsd:string) AnnotationAssertion( "Pituitary dwarfism 4"^^xsd:string) AnnotationAssertion( "Pituitary dwarfism with normal immunoreactive growth hormone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003177"^^xsd:string) AnnotationAssertion(rdfs:label "Kowarski Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Platelet Disorder with Associated Myeloid Malignancy) AnnotationAssertion( "MIM:601399"^^xsd:string) AnnotationAssertion( "RDO:0012615"^^xsd:string) AnnotationAssertion( "MESH:C563324"^^xsd:string) AnnotationAssertion( "NCI:C162696"^^xsd:string) AnnotationAssertion( "FPD/AML"^^xsd:string) AnnotationAssertion( "FPDAML"^^xsd:string) AnnotationAssertion( "FPDMM"^^xsd:string) AnnotationAssertion( "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGIC CANCER PREDISPOSITION SYNDROME"^^xsd:string) AnnotationAssertion( "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME ASSOCIATED WITH RUNX1"^^xsd:string) AnnotationAssertion( "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY"^^xsd:string) AnnotationAssertion( "Platelet Disorder, Aspirin-Like"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003178"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Platelet Disorder with Associated Myeloid Malignancy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bankart Lesions) AnnotationAssertion(Annotation( "MESH:D000070896"^^xsd:string) "An anterior capsulolabral injury associated with a tear of the anteroinferior GLENOID LABRUM."^^xsd:string) AnnotationAssertion( "MESH:D000070896"^^xsd:string) AnnotationAssertion( "Bankart Fractures"^^xsd:string) AnnotationAssertion( "Bankart Lesion"^^xsd:string) AnnotationAssertion( "Bankart Tears"^^xsd:string) AnnotationAssertion( "Bony Bankart Lesion"^^xsd:string) AnnotationAssertion( "Bony Bankart Lesions"^^xsd:string) AnnotationAssertion( "Hill Sachs Lesion"^^xsd:string) AnnotationAssertion( "Hill Sachs Lesions"^^xsd:string) AnnotationAssertion( "Osseous Bankart Lesion"^^xsd:string) AnnotationAssertion( "Osseous Bankart Lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003179"^^xsd:string) AnnotationAssertion(rdfs:label "Bankart Lesions"^^xsd:string) SubClassOf( ) # Class: (Chronic Diarrhea with Villous Atrophy) AnnotationAssertion( "MIM:520100"^^xsd:string) AnnotationAssertion( "MESH:C564019"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003180"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Diarrhea with Villous Atrophy"^^xsd:string) SubClassOf( ) # Class: (Heartburn) AnnotationAssertion(Annotation( "MESH:D006356"^^xsd:string) "Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus."^^xsd:string) AnnotationAssertion( "MESH:D006356"^^xsd:string) AnnotationAssertion( "RDO:0005730"^^xsd:string) AnnotationAssertion( "Pyroses"^^xsd:string) AnnotationAssertion( "Pyrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003181"^^xsd:string) AnnotationAssertion(rdfs:label "Heartburn"^^xsd:string) SubClassOf( ) # Class: (Parenti-Mignot Neurodevelopmental Syndrome) AnnotationAssertion(Annotation( "MIM:619873"^^xsd:string) "An autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy. Caused by heterozygous mutation in the CHD5 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T13:53:58Z"^^xsd:string) AnnotationAssertion( "MIM:619873"^^xsd:string) AnnotationAssertion( "PMNDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003182"^^xsd:string) AnnotationAssertion(rdfs:label "Parenti-Mignot Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Seemanova Lesny Syndrome) AnnotationAssertion( "MESH:C537536"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003183"^^xsd:string) AnnotationAssertion(rdfs:label "Seemanova Lesny Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Campomelic Dysplasia with Autosomal Sex Reversal) AnnotationAssertion( "MESH:C564282"^^xsd:string) AnnotationAssertion( "RDO:0013301"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003184"^^xsd:string) AnnotationAssertion(rdfs:label "Campomelic Dysplasia with Autosomal Sex Reversal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinocerebellar Atrophy with Pupillary Paralysis) AnnotationAssertion( "MIM:183100"^^xsd:string) AnnotationAssertion( "MESH:C566668"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003187"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Atrophy with Pupillary Paralysis"^^xsd:string) SubClassOf( ) # Class: (Neural Crest Tumor) AnnotationAssertion( "MESH:C536408"^^xsd:string) AnnotationAssertion( "Neural crest-derived tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003188"^^xsd:string) AnnotationAssertion(rdfs:label "Neural Crest Tumor"^^xsd:string) SubClassOf( ) # Class: (Plant Poisoning) AnnotationAssertion(Annotation( "MESH:D010939"^^xsd:string) "Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage."^^xsd:string) AnnotationAssertion( "MESH:D010939"^^xsd:string) AnnotationAssertion( "Plant Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003189"^^xsd:string) AnnotationAssertion(rdfs:label "Plant Poisoning"^^xsd:string) SubClassOf( ) # Class: (Nguyen Syndrome) AnnotationAssertion( "MIM:609643"^^xsd:string) AnnotationAssertion( "MESH:C536115"^^xsd:string) AnnotationAssertion( "MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003190"^^xsd:string) AnnotationAssertion(rdfs:label "Nguyen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vascular Malformations) AnnotationAssertion(Annotation( "MESH:D054079"^^xsd:string) "A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases."^^xsd:string) AnnotationAssertion( "EFO:0006888"^^xsd:string) AnnotationAssertion( "MESH:D054079"^^xsd:string) AnnotationAssertion( "RDO:0004910"^^xsd:string) AnnotationAssertion( "Vascular Malformation"^^xsd:string) AnnotationAssertion( "GIVM"^^xsd:string) AnnotationAssertion( "gastrointestinal vascular malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003191"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Malformations"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 79) AnnotationAssertion(Annotation( "MIM:620196"^^xsd:string) "Male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation, caused by homozygous mutation in the KCNU1 gene on chromosome 8p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-10T08:26:33Z"^^xsd:string) AnnotationAssertion( "MIM:620196"^^xsd:string) AnnotationAssertion( "SPGF79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003192"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 79"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction) AnnotationAssertion( "Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers. NEDCPMD is caused by homozygous mutation in the NFASC gene on chromosome 1q32. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-15T15:34:28Z"^^xsd:string) AnnotationAssertion( "MIM:618356"^^xsd:string) AnnotationAssertion( "NEDCPMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003193"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eye Pain) AnnotationAssertion(Annotation( "MESH:D058447"^^xsd:string) "A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes."^^xsd:string) AnnotationAssertion( "MESH:D058447"^^xsd:string) AnnotationAssertion( "Eye Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003194"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Pain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Angioedema 7) AnnotationAssertion(Annotation( "MIM:619366"^^xsd:string) "An autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. Caused by heterozygous mutation in the MYOF gene on chromosome 10q24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T11:56:41Z"^^xsd:string) AnnotationAssertion( "MIM:619366"^^xsd:string) AnnotationAssertion( "HAE7"^^xsd:string) AnnotationAssertion( "MYOF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003195"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angioedema 7"^^xsd:string) SubClassOf( ) # Class: (Penile Neoplasms) AnnotationAssertion(Annotation( "MESH:D010412"^^xsd:string) "Cancers or tumors of the PENIS or of its component tissues."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T07:14:33Z"^^xsd:string) AnnotationAssertion( "EFO:1001094"^^xsd:string) AnnotationAssertion( "MESH:D010412"^^xsd:string) AnnotationAssertion( "NCI:C3317"^^xsd:string) AnnotationAssertion( "neoplasm of penis"^^xsd:string) AnnotationAssertion( "penile neoplasm"^^xsd:string) AnnotationAssertion( "penile tumor"^^xsd:string) AnnotationAssertion( "penis neoplasm"^^xsd:string) AnnotationAssertion( "penis neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003196"^^xsd:string) AnnotationAssertion(rdfs:label "Penile Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vaso-occlusive Crisis) AnnotationAssertion( "A common painful complication of sickle cell anemia in adolescents and adults."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "Hemoglobin SS disease with vasoocclusive crisis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003197"^^xsd:string) AnnotationAssertion(rdfs:label "Vaso-occlusive Crisis"^^xsd:string) SubClassOf( ) # Class: (Cardiac Papillary Fibroelastoma) AnnotationAssertion( "Primary tumors, predominantly of the CARDIAC VALVES, characterized by multiple papillary frond structures. Although histologically benign, they may result in complications (e.g., valve dysfunction, EMBOLISM; STROKE; and SUDDEN DEATH). (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T20:53:26Z"^^xsd:string) AnnotationAssertion( "MESH:D000084122"^^xsd:string) AnnotationAssertion( "Papillary Fibroelastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003198"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Papillary Fibroelastoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Systemic Vasculitis) AnnotationAssertion(Annotation( "MESH:D056647"^^xsd:string) "A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls."^^xsd:string) AnnotationAssertion( "MESH:D056647"^^xsd:string) AnnotationAssertion( "SNV"^^xsd:string) AnnotationAssertion( "Systemic Vasculitides"^^xsd:string) AnnotationAssertion( "Systemic necrotizing vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003199"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Vasculitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Westphal Disease) AnnotationAssertion( "MESH:C536694"^^xsd:string) AnnotationAssertion( "RDO:0002345"^^xsd:string) AnnotationAssertion( "Westphal variant of Huntington's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003201"^^xsd:string) AnnotationAssertion(rdfs:label "Westphal Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Hemorrhage) AnnotationAssertion( "RDO:9000749"^^xsd:string) AnnotationAssertion( "Hemorrhagic Lung"^^xsd:string) AnnotationAssertion( "Intra-Alveolar Hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003202"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intra-Articular Fractures) AnnotationAssertion(Annotation( "MESH:D057072"^^xsd:string) "Fractures of the articular surface of a bone."^^xsd:string) AnnotationAssertion( "MESH:D057072"^^xsd:string) AnnotationAssertion( "RDO:0007775"^^xsd:string) AnnotationAssertion( "Intra-Articular Fracture"^^xsd:string) AnnotationAssertion( "Intraarticular Fracture"^^xsd:string) AnnotationAssertion( "Intraarticular Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003203"^^xsd:string) AnnotationAssertion(rdfs:label "Intra-Articular Fractures"^^xsd:string) SubClassOf( ) # Class: (Neovascularization, Pathologic) AnnotationAssertion(Annotation( "MESH:D009389"^^xsd:string) "A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions."^^xsd:string) AnnotationAssertion( "MESH:D009389"^^xsd:string) AnnotationAssertion( "RDO:0003942"^^xsd:string) AnnotationAssertion( "Pathologic Angiogenesis"^^xsd:string) AnnotationAssertion( "Pathological Angiogenesis"^^xsd:string) AnnotationAssertion( "Pathological Neovascularization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003204"^^xsd:string) AnnotationAssertion(rdfs:label "Neovascularization, Pathologic"^^xsd:string) SubClassOf( ) # Class: (Heart-Hand Syndrome, Slovenian Type) AnnotationAssertion( "MIM:610140"^^xsd:string) AnnotationAssertion( "MESH:C535852"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003205"^^xsd:string) AnnotationAssertion(rdfs:label "Heart-Hand Syndrome, Slovenian Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Renal Dysplasia - Limb Defects Syndrome) AnnotationAssertion( "MIM:266910"^^xsd:string) AnnotationAssertion( "MESH:C537754"^^xsd:string) AnnotationAssertion( "Renal dysplasia, mesomelia, and radiohumeral fusion"^^xsd:string) AnnotationAssertion( "Ulbright Hodes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003206"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Dysplasia - Limb Defects Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fibrinolytic Defect) AnnotationAssertion( "MIM:134900"^^xsd:string) AnnotationAssertion( "MESH:C565017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003207"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrinolytic Defect"^^xsd:string) SubClassOf( ) # Class: (Progressive Psychomotor Deterioration) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-17T17:11:32Z"^^xsd:string) AnnotationAssertion( "HP:0002344"^^xsd:string) AnnotationAssertion( "Neurologic deterioration"^^xsd:string) AnnotationAssertion( "Progressive mental deterioration"^^xsd:string) AnnotationAssertion( "Progressive neurodegeneration"^^xsd:string) AnnotationAssertion( "Worsening neurological symptoms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003208"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Psychomotor Deterioration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bacterial Skin Diseases) AnnotationAssertion(Annotation( "MESH:D017192"^^xsd:string) "Skin diseases caused by bacteria."^^xsd:string) AnnotationAssertion( "MESH:D017192"^^xsd:string) AnnotationAssertion( "Bacterial Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003209"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Skin Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 9, Trisomy 9q) AnnotationAssertion( "MESH:C538030"^^xsd:string) AnnotationAssertion( "RDO:0003964"^^xsd:string) AnnotationAssertion( "Duplication 9q"^^xsd:string) AnnotationAssertion( "Trisomy 9q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003211"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Trisomy 9q"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 6, Autosomal) AnnotationAssertion( "MIM:614779"^^xsd:string) AnnotationAssertion( "HTX6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003212"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 6, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Familial Synovial Chondromatosis with Dwarfism) AnnotationAssertion( "MIM:186575"^^xsd:string) AnnotationAssertion( "MESH:C566087"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003213"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Synovial Chondromatosis with Dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative) AnnotationAssertion( "MESH:C563440"^^xsd:string) AnnotationAssertion( "MIM:600802"^^xsd:string) AnnotationAssertion( "MONDO:0010938"^^xsd:string) AnnotationAssertion( "ORDO:35078"^^xsd:string) AnnotationAssertion( "JAK3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative"^^xsd:string) AnnotationAssertion( "SCID, autosomal recessive, T-negative/B-positive type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003214"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative"^^xsd:string) SubClassOf( ) # Class: (Brachydactyly Type A5 Nail Dysplasia) AnnotationAssertion( "MESH:C537091"^^xsd:string) AnnotationAssertion( "RDO:0002865"^^xsd:string) AnnotationAssertion( "Absent middle phalanges of digits 2-5 with nail dysplasia"^^xsd:string) AnnotationAssertion( "Brachydactyly, Type A5, With Nail Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003215"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly Type A5 Nail Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Salivary Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D012468"^^xsd:string) "Tumors or cancer of the SALIVARY GLANDS."^^xsd:string) AnnotationAssertion( "EFO:0003826"^^xsd:string) AnnotationAssertion( "EFO:1000119"^^xsd:string) AnnotationAssertion( "MESH:D012468"^^xsd:string) AnnotationAssertion( "Salivary Gland Neoplasm"^^xsd:string) AnnotationAssertion( "Benign Salivary Gland Myoepithelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003216"^^xsd:string) AnnotationAssertion(rdfs:label "Salivary Gland Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prepapillary Vascular Loops) AnnotationAssertion( "MIM:264060"^^xsd:string) AnnotationAssertion( "MESH:C563287"^^xsd:string) AnnotationAssertion( "Preretinal Vascular Loops"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003217"^^xsd:string) AnnotationAssertion(rdfs:label "Prepapillary Vascular Loops"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Arthrogryposis, Moore Weaver Type) AnnotationAssertion( "RDO:0002506"^^xsd:string) AnnotationAssertion( "MESH:C536814"^^xsd:string) AnnotationAssertion( "Moore Weaver syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003218"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis, Moore Weaver Type"^^xsd:string) SubClassOf( ) # Class: (Invasive Pulmonary Aspergillosis) AnnotationAssertion(Annotation( "MESH:D055744"^^xsd:string) "Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs."^^xsd:string) AnnotationAssertion( "MESH:D055744"^^xsd:string) AnnotationAssertion( "Allergic Bronchopulmonary Mycoses"^^xsd:string) AnnotationAssertion( "Allergic Bronchopulmonary Mycosis"^^xsd:string) AnnotationAssertion( "Chronic Necrotizing Pulmonary Aspergillosis"^^xsd:string) AnnotationAssertion( "IPA"^^xsd:string) AnnotationAssertion( "Invasive Pulmonary Aspergilloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003219"^^xsd:string) AnnotationAssertion(rdfs:label "Invasive Pulmonary Aspergillosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency due to Ficolin 3 Deficiency) AnnotationAssertion( "MIM:613860"^^xsd:string) AnnotationAssertion( "FCN3 Deficiency"^^xsd:string) AnnotationAssertion( "Ficolin 3 Deficiency"^^xsd:string) AnnotationAssertion( "LCAPD3"^^xsd:string) AnnotationAssertion( "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003220"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency due to Ficolin 3 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Progressive Mucinous Histiocytosis) AnnotationAssertion( "MIM:142630"^^xsd:string) AnnotationAssertion( "MESH:C564186"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003221"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Mucinous Histiocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Platelet granule deficiency disorder) AnnotationAssertion( "MESH:C531691"^^xsd:string) AnnotationAssertion( "RDO:0000114"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003222"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet granule deficiency disorder"^^xsd:string) SubClassOf( ) # Class: (Corneal Graft Rejection) AnnotationAssertion( "A process in which a transplant recipient's immune system attacks the transplanted cornea. Each layer of the cornea can undergo rejection, endothelial rejection being the most severe form."^^xsd:string) AnnotationAssertion( "RDO:9000102"^^xsd:string) AnnotationAssertion( "corneal transplant rejection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003223"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Graft Rejection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features) AnnotationAssertion( "MIM:609944"^^xsd:string) AnnotationAssertion( "MESH:C536182"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003224"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME) AnnotationAssertion(Annotation( "MIM:618914"^^xsd:string) "A disease characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes, including abnormalities of fingers and toes. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-11-09T18:25:04Z"^^xsd:string) AnnotationAssertion( "MIM:618914"^^xsd:string) AnnotationAssertion( "FBXW11-RELATED NEURODEVELOPMENTAL, BRAIN, EYE, AND DIGIT ANOMALIES"^^xsd:string) AnnotationAssertion( "MIM:618914"^^xsd:string) AnnotationAssertion( "NEDJED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003225"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parotid Aplasia or Hypoplasia) AnnotationAssertion( "MESH:C566702"^^xsd:string) AnnotationAssertion( "RDO:0014981"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003226"^^xsd:string) AnnotationAssertion(rdfs:label "Parotid Aplasia or Hypoplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tooth Loss) AnnotationAssertion(Annotation( "MESH:D016388"^^xsd:string) "The failure to retain teeth as a result of disease or injury."^^xsd:string) AnnotationAssertion( "MESH:D016388"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003228"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rh-Null Disease, Amorph Type) AnnotationAssertion( "The amorph RH-null phenotype arises from mutations at the RH locus itself that silence Rh expression and cause mild to moderate hemolytic anemia. Red blood cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:111700"^^xsd:string) AnnotationAssertion( "MIM:617970"^^xsd:string) AnnotationAssertion( "MESH:C566210"^^xsd:string) AnnotationAssertion( "RH-null, amorph type"^^xsd:string) AnnotationAssertion( "RHNA"^^xsd:string) AnnotationAssertion( "amorph type of RH-null phenotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE"^^xsd:string) AnnotationAssertion( "RHESUS BLOOD GROUP, CcEe ANTIGENS"^^xsd:string) AnnotationAssertion( "DOID:9003229"^^xsd:string) AnnotationAssertion(rdfs:label "Rh-Null Disease, Amorph Type"^^xsd:string) SubClassOf( ) # Class: (Graft Occlusion, Vascular) AnnotationAssertion(Annotation( "MESH:D006083"^^xsd:string) "Obstruction of flow in biological or prosthetic vascular grafts."^^xsd:string) AnnotationAssertion( "EFO:0007051"^^xsd:string) AnnotationAssertion( "MESH:D006083"^^xsd:string) AnnotationAssertion( "RDO:0005694"^^xsd:string) AnnotationAssertion( "GCAD"^^xsd:string) AnnotationAssertion( "Graft Coronary Artery Disease"^^xsd:string) AnnotationAssertion( "Graft Restenoses, Vascular"^^xsd:string) AnnotationAssertion( "Vascular Graft Restenosis"^^xsd:string) AnnotationAssertion( "vein graft stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003230"^^xsd:string) AnnotationAssertion(rdfs:label "Graft Occlusion, Vascular"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kallmann Syndrome 5) AnnotationAssertion( "MESH:C567220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003232"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann Syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Furcation Defects) AnnotationAssertion(Annotation( "MESH:D017823"^^xsd:string) "Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption."^^xsd:string) AnnotationAssertion( "MESH:D017823"^^xsd:string) AnnotationAssertion( "RDO:0007083"^^xsd:string) AnnotationAssertion( "Furcation Defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003233"^^xsd:string) AnnotationAssertion(rdfs:label "Furcation Defects"^^xsd:string) SubClassOf( ) # Class: (Hypertensive Nephropathy) AnnotationAssertion( "MIM:608026"^^xsd:string) AnnotationAssertion( "MESH:C563161"^^xsd:string) AnnotationAssertion( "RDO:0012537"^^xsd:string) AnnotationAssertion( "HNP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003234"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertensive Nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trichodental Syndrome) AnnotationAssertion( "MIM:601453"^^xsd:string) AnnotationAssertion( "MESH:C536551"^^xsd:string) AnnotationAssertion( "Tricho-dental dysplasia"^^xsd:string) AnnotationAssertion( "Tricho-dental syndrome"^^xsd:string) AnnotationAssertion( "Trichodental dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003235"^^xsd:string) AnnotationAssertion(rdfs:label "Trichodental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sacral Plexopathy) AnnotationAssertion( "MESH:C537224"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003236"^^xsd:string) AnnotationAssertion(rdfs:label "Sacral Plexopathy"^^xsd:string) SubClassOf( ) # Class: (Cardiovascular Infections) AnnotationAssertion(Annotation( "MESH:D053821"^^xsd:string) "Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections."^^xsd:string) AnnotationAssertion( "MESH:D053821"^^xsd:string) AnnotationAssertion( "Cardiovascular Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003237"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiovascular Infections"^^xsd:string) SubClassOf( ) # Class: (Accutane Embryopathy) AnnotationAssertion( "MESH:C535670"^^xsd:string) AnnotationAssertion( "RDO:0000921"^^xsd:string) AnnotationAssertion( "Accutane-exposed pregnancies"^^xsd:string) AnnotationAssertion( "Isotretinoin (RoAccutane) embryopathy"^^xsd:string) AnnotationAssertion( "Isotretinoin embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003238"^^xsd:string) AnnotationAssertion(rdfs:label "Accutane Embryopathy"^^xsd:string) SubClassOf( ) # Class: (Femoral Facial Syndrome) AnnotationAssertion( "GARD:61"^^xsd:string) AnnotationAssertion( "MESH:C537916"^^xsd:string) AnnotationAssertion( "MIM:134780"^^xsd:string) AnnotationAssertion( "MONDO:0007604"^^xsd:string) AnnotationAssertion( "ORDO:1988"^^xsd:string) AnnotationAssertion( "FFS"^^xsd:string) AnnotationAssertion( "FHUFS"^^xsd:string) AnnotationAssertion( "Femoral dysgenesis, bilateral"^^xsd:string) AnnotationAssertion( "Femoral dysgenesis, bilateral-Robin anomaly"^^xsd:string) AnnotationAssertion( "Femoral hypoplasia-unusual facies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003239"^^xsd:string) AnnotationAssertion(rdfs:label "Femoral Facial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tay-Sachs Disease, Variant B1) AnnotationAssertion( "MESH:C564785"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEXA, Czechoslovakian Allele"^^xsd:string) AnnotationAssertion( "DOID:9003240"^^xsd:string) AnnotationAssertion(rdfs:label "Tay-Sachs Disease, Variant B1"^^xsd:string) SubClassOf( ) # Class: (MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619680"^^xsd:string) "This disease is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-08T15:23:52Z"^^xsd:string) AnnotationAssertion( "MIM:619680"^^xsd:string) AnnotationAssertion( "MASNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003241"^^xsd:string) AnnotationAssertion(rdfs:label "MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Paresthesia) AnnotationAssertion(Annotation( "MESH:D010292"^^xsd:string) "Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation."^^xsd:string) AnnotationAssertion( "MESH:D010292"^^xsd:string) AnnotationAssertion( "Distal Paresthesia"^^xsd:string) AnnotationAssertion( "Dysesthesia"^^xsd:string) AnnotationAssertion( "Dysesthesias"^^xsd:string) AnnotationAssertion( "Formication"^^xsd:string) AnnotationAssertion( "Formications"^^xsd:string) AnnotationAssertion( "Painful Paresthesia"^^xsd:string) AnnotationAssertion( "Painful Paresthesias"^^xsd:string) AnnotationAssertion( "distal paresthesias"^^xsd:string) AnnotationAssertion( "paresthesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003242"^^xsd:string) AnnotationAssertion(rdfs:label "Paresthesia"^^xsd:string) SubClassOf( ) # Class: (Watermelon Stomach Disease) AnnotationAssertion( "MESH:C538665"^^xsd:string) AnnotationAssertion( "RDO:0004584"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003243"^^xsd:string) AnnotationAssertion(rdfs:label "Watermelon Stomach Disease"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency) AnnotationAssertion( "MIM:610842"^^xsd:string) AnnotationAssertion( "GGCX-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563654"^^xsd:string) AnnotationAssertion( "RDO:0012853"^^xsd:string) AnnotationAssertion( "PXE-Like Disorder with Multiple Coagulation Factor Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003245"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Central Serous Chorioretinopathy) AnnotationAssertion(Annotation( "MESH:D056833"^^xsd:string) "A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium."^^xsd:string) AnnotationAssertion( "EFO:0009363"^^xsd:string) AnnotationAssertion( "EFO:0009784"^^xsd:string) AnnotationAssertion( "MESH:D056833"^^xsd:string) AnnotationAssertion( "RDO:0007763"^^xsd:string) AnnotationAssertion( "Central Serous Chorioretinopathies"^^xsd:string) AnnotationAssertion( "Central Serous Retinopathies"^^xsd:string) AnnotationAssertion( "Central Serous Retinopathy"^^xsd:string) AnnotationAssertion( "chronic central serous chorioretinopathy"^^xsd:string) AnnotationAssertion( "type II central serous retinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003248"^^xsd:string) AnnotationAssertion(rdfs:label "Central Serous Chorioretinopathy"^^xsd:string) SubClassOf( ) # Class: (Glycosylphosphatidylinositol Biosynthesis Defect 17) AnnotationAssertion(Annotation( "MIM:618010"^^xsd:string) "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-12-06T15:26:40Z"^^xsd:string) AnnotationAssertion( "MIM:618010"^^xsd:string) AnnotationAssertion( "GPIBD17"^^xsd:string) AnnotationAssertion( "PIGH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003249"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Biosynthesis Defect 17"^^xsd:string) SubClassOf( ) # Class: (Cardioacrofacial Dysplasia 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T16:59:19Z"^^xsd:string) AnnotationAssertion( "MIM:619143"^^xsd:string) AnnotationAssertion( "CAFD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003250"^^xsd:string) AnnotationAssertion(rdfs:label "Cardioacrofacial Dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617643"^^xsd:string) AnnotationAssertion( "RDO:9005145"^^xsd:string) AnnotationAssertion( "CADEDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003251"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axial Mesodermal Dysplasia Spectrum) AnnotationAssertion( "MESH:C537790"^^xsd:string) AnnotationAssertion( "Russell Weaver Bull syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003252"^^xsd:string) AnnotationAssertion(rdfs:label "Axial Mesodermal Dysplasia Spectrum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myxoma) AnnotationAssertion(Annotation( "MESH:D009232"^^xsd:string) "A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal tissue. It occurs frequently intramuscularly where it may be mistaken for a sarcoma. It appears also in the jaws and the skin. (From Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000087"^^xsd:string) AnnotationAssertion( "MESH:D009232"^^xsd:string) AnnotationAssertion( "Myxomas"^^xsd:string) AnnotationAssertion( "Angiomyxoma"^^xsd:string) AnnotationAssertion( "Angiomyxomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003253"^^xsd:string) AnnotationAssertion(rdfs:label "Myxoma"^^xsd:string) SubClassOf( ) # Class: (Genetic Nondisjunction) AnnotationAssertion(Annotation( "MESH:D009630"^^xsd:string) "The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none."^^xsd:string) AnnotationAssertion( "MIM:158250"^^xsd:string) AnnotationAssertion( "MESH:D009630"^^xsd:string) AnnotationAssertion( "Genetic Non Disjunction"^^xsd:string) AnnotationAssertion( "Genetic Non-Disjunctions"^^xsd:string) AnnotationAssertion( "Genetic Nondisjunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003254"^^xsd:string) AnnotationAssertion(rdfs:label "Genetic Nondisjunction"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias) AnnotationAssertion(Annotation( "MIM:619846"^^xsd:string) "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T11:51:25Z"^^xsd:string) AnnotationAssertion( "MIM:619846"^^xsd:string) AnnotationAssertion( "IMD99"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003255"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias"^^xsd:string) SubClassOf( ) # Class: (Adrenocortical Unresponsiveness to Acth with Postreceptor Defect) AnnotationAssertion( "MIM:202355"^^xsd:string) AnnotationAssertion( "MESH:C565971"^^xsd:string) AnnotationAssertion( "Familial Glucocorticoid Deficiency Due To Defect Distal To Acth Receptor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003256"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenocortical Unresponsiveness to Acth with Postreceptor Defect"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS) AnnotationAssertion(Annotation( "MIM:619576"^^xsd:string) "This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-07T14:07:40Z"^^xsd:string) AnnotationAssertion( "MIM:619576"^^xsd:string) AnnotationAssertion( "CABAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003258"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marles Greenberg Persaud Syndrome) AnnotationAssertion( "MIM:248450"^^xsd:string) AnnotationAssertion( "MESH:C536022"^^xsd:string) AnnotationAssertion( "MOTA"^^xsd:string) AnnotationAssertion( "Manitoba Oculotrichoanal Syndrome"^^xsd:string) AnnotationAssertion( "Manitoba Trichoanal syndrome"^^xsd:string) AnnotationAssertion( "Marles syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003259"^^xsd:string) AnnotationAssertion(rdfs:label "Marles Greenberg Persaud Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hemiplegic Migraine 4) AnnotationAssertion( "MIM:607516"^^xsd:string) AnnotationAssertion( "MESH:C564385"^^xsd:string) AnnotationAssertion( "FHM4"^^xsd:string) AnnotationAssertion( "MGR6"^^xsd:string) AnnotationAssertion( "familial hemiplegic migraine, type 4"^^xsd:string) AnnotationAssertion( "migraine with or without aura, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003260"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hemiplegic Migraine 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adnexal Diseases) AnnotationAssertion(Annotation( "MESH:D000291"^^xsd:string) "Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT)."^^xsd:string) AnnotationAssertion( "MESH:D000291"^^xsd:string) AnnotationAssertion( "RDO:0002411"^^xsd:string) AnnotationAssertion( "Adnexal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003261"^^xsd:string) AnnotationAssertion(rdfs:label "Adnexal Diseases"^^xsd:string) SubClassOf( ) # Class: (Sex Chromosome Disorders of Sex Development) AnnotationAssertion(Annotation( "MESH:D058533"^^xsd:string) "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM."^^xsd:string) AnnotationAssertion( "MESH:D058533"^^xsd:string) AnnotationAssertion( "RDO:0000370"^^xsd:string) AnnotationAssertion( "Sex Chromosome DSD"^^xsd:string) AnnotationAssertion( "Sex Chromosome DSDs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003262"^^xsd:string) AnnotationAssertion(rdfs:label "Sex Chromosome Disorders of Sex Development"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phosphoenolpyruvate Carboxykinase Deficiency) AnnotationAssertion( "MESH:C536654"^^xsd:string) AnnotationAssertion( "PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY"^^xsd:string) AnnotationAssertion( "Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency"^^xsd:string) AnnotationAssertion( "Phosphoenolpyruvate carboxylase deficiency"^^xsd:string) AnnotationAssertion( "Phosphopyruvate carboxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003263"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphoenolpyruvate Carboxykinase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mirhosseini-Holmes-Walton Syndrome) AnnotationAssertion( "MIM:268050"^^xsd:string) AnnotationAssertion( "MESH:C538367"^^xsd:string) AnnotationAssertion( "pigmentary retinopathy and impaired intellectual development"^^xsd:string) AnnotationAssertion( "pigmentary retinopathy and mental retardation"^^xsd:string) AnnotationAssertion( "pigmentary retinopathy, mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003264"^^xsd:string) AnnotationAssertion(rdfs:label "Mirhosseini-Holmes-Walton Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondylocamptodactyly) AnnotationAssertion( "MIM:600000"^^xsd:string) AnnotationAssertion( "MESH:C535779"^^xsd:string) AnnotationAssertion( "Camptodactyly with cervical platyspondyly"^^xsd:string) AnnotationAssertion( "Spondylo camptodactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003265"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylocamptodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Campomelia Cumming Type) AnnotationAssertion( "MIM:211890"^^xsd:string) AnnotationAssertion( "MESH:C537966"^^xsd:string) AnnotationAssertion( "Cervical lymphocele with bowed long bones"^^xsd:string) AnnotationAssertion( "Cumming syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003267"^^xsd:string) AnnotationAssertion(rdfs:label "Campomelia Cumming Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal) AnnotationAssertion( "EFO:0009144"^^xsd:string) AnnotationAssertion( "MIM:614498"^^xsd:string) AnnotationAssertion( "NCI:C154618"^^xsd:string) AnnotationAssertion( "RDO:9000509"^^xsd:string) AnnotationAssertion( "LETHAL NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "RMFSL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003268"^^xsd:string) AnnotationAssertion(rdfs:label "Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal"^^xsd:string) SubClassOf( ) # Class: (Sudden Cardiac Failure, Infantile) AnnotationAssertion( "PPA2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:617222"^^xsd:string) AnnotationAssertion( "SCFI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003269"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Cardiac Failure, Infantile"^^xsd:string) SubClassOf( ) # Class: (Microtia-Anotia) AnnotationAssertion( "MIM:600674"^^xsd:string) AnnotationAssertion( "OMIA:001952"^^xsd:string) AnnotationAssertion( "MESH:C563457"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003270"^^xsd:string) AnnotationAssertion(rdfs:label "Microtia-Anotia"^^xsd:string) SubClassOf( ) # Class: (White Dot Syndromes) AnnotationAssertion( "A group of idiopathic multifocal posterior uveitis syndromes involving the CHOROID; RETINAL PIGMENT EPITHELIUM; and RETINA. They are characterized by multiple lesions of hypoautofluorescent dots in the FUNDUS OCULI and reduced VISUAL ACUITY. Several entities including BIRDSHOT CHORIORETINOPATHY are HLA-A ANTIGENS serotype A29 positive. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T12:13:08Z"^^xsd:string) AnnotationAssertion( "MESH:D000080363"^^xsd:string) AnnotationAssertion( "APMPPE"^^xsd:string) AnnotationAssertion( "Acute Idiopathic Blind Spot Enlargement Syndrome"^^xsd:string) AnnotationAssertion( "Acute Macular Neuroretinopathy"^^xsd:string) AnnotationAssertion( "Acute Posterior Multifocal Placoid Pigment Epitheliopathy"^^xsd:string) AnnotationAssertion( "Diffuse Subretinal Fibrosis Uveitis"^^xsd:string) AnnotationAssertion( "MEWDS"^^xsd:string) AnnotationAssertion( "Multiple Evanescent White Dot Syndrome"^^xsd:string) AnnotationAssertion( "Punctate Inner Choroidopathy"^^xsd:string) AnnotationAssertion( "Serpiginous Choroiditis"^^xsd:string) AnnotationAssertion( "Serpiginous Choroidopathy"^^xsd:string) AnnotationAssertion( "White Dot syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003271"^^xsd:string) AnnotationAssertion(rdfs:label "White Dot Syndromes"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11) AnnotationAssertion(Annotation( "MIM:619441"^^xsd:string) "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. Conferred by homozygous or compound heterozygous mutation in the DBR1 gene on chromosome 3q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T14:34:54Z"^^xsd:string) AnnotationAssertion( "MIM:619441"^^xsd:string) AnnotationAssertion( "MONDO:0030334"^^xsd:string) AnnotationAssertion( "IIAE11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003272"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11"^^xsd:string) SubClassOf( ) # Class: (Chromosome 8, Trisomy) AnnotationAssertion( "MESH:C537942"^^xsd:string) AnnotationAssertion( "NCI:C36396"^^xsd:string) AnnotationAssertion( "RDO:0003864"^^xsd:string) AnnotationAssertion( "Chromosome 8 duplication"^^xsd:string) AnnotationAssertion( "Trisomy 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003273"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Fuchs Atrophia Gyrata Chorioideae et Retinae) AnnotationAssertion( "MESH:C538071"^^xsd:string) AnnotationAssertion( "RDO:0004005"^^xsd:string) AnnotationAssertion( "Fuchs gyrate atrophy"^^xsd:string) AnnotationAssertion( "Fuchs gyrate atrophy of the choroid and retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003274"^^xsd:string) AnnotationAssertion(rdfs:label "Fuchs Atrophia Gyrata Chorioideae et Retinae"^^xsd:string) SubClassOf( ) # Class: (Hypokalemic Tubulopathy and Deafness) AnnotationAssertion(Annotation( "MIM:619406"^^xsd:string) "This disease is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-23T17:03:40Z"^^xsd:string) AnnotationAssertion( "MIM:619406"^^xsd:string) AnnotationAssertion( "HKTD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003275"^^xsd:string) AnnotationAssertion(rdfs:label "Hypokalemic Tubulopathy and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spider Bites) AnnotationAssertion(Annotation( "MESH:D001098"^^xsd:string) "The effects, both local and systemic, caused by the bites of SPIDERS."^^xsd:string) AnnotationAssertion( "MESH:D001098"^^xsd:string) AnnotationAssertion( "Arachnidism"^^xsd:string) AnnotationAssertion( "Necrotic Arachnidism"^^xsd:string) AnnotationAssertion( "Spider Bite"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003276"^^xsd:string) AnnotationAssertion(rdfs:label "Spider Bites"^^xsd:string) SubClassOf( ) # Class: (Sammartino De Crecchio Syndrome) AnnotationAssertion( "MESH:C537229"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003277"^^xsd:string) AnnotationAssertion(rdfs:label "Sammartino De Crecchio Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neoplasm, Residual) AnnotationAssertion(Annotation( "MESH:D018365"^^xsd:string) "Remnant of a tumor or cancer after primary, potentially curative therapy. (Dr. Daniel Masys, written communication)"^^xsd:string) AnnotationAssertion( "MESH:D018365"^^xsd:string) AnnotationAssertion( "RDO:0007194"^^xsd:string) AnnotationAssertion( "Minimal Residual Disease"^^xsd:string) AnnotationAssertion( "Minimal Residual Diseases"^^xsd:string) AnnotationAssertion( "Residual Cancer"^^xsd:string) AnnotationAssertion( "Residual Cancers"^^xsd:string) AnnotationAssertion( "Residual Neoplasms"^^xsd:string) AnnotationAssertion( "Residual Tumor"^^xsd:string) AnnotationAssertion( "Residual Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003278"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm, Residual"^^xsd:string) SubClassOf( ) # Class: (Joint Dislocations) AnnotationAssertion(Annotation( "MESH:D004204"^^xsd:string) "Displacement of bones from their normal positions at a joint."^^xsd:string) AnnotationAssertion( "EFO:0009521"^^xsd:string) AnnotationAssertion( "MESH:D004204"^^xsd:string) AnnotationAssertion( "RDO:0001090"^^xsd:string) AnnotationAssertion( "Inferior Dislocation"^^xsd:string) AnnotationAssertion( "Inferior Dislocations"^^xsd:string) AnnotationAssertion( "Joint Dislocation"^^xsd:string) AnnotationAssertion( "Joint Subluxation"^^xsd:string) AnnotationAssertion( "Joint Subluxations"^^xsd:string) AnnotationAssertion( "Luxatio Erecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003279"^^xsd:string) AnnotationAssertion(rdfs:label "Joint Dislocations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bradypnea) AnnotationAssertion(Annotation( "EFO:0009839"^^xsd:string) "This disorder involves an abnormal decrease in the rate of breathing."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-29T14:41:35Z"^^xsd:string) AnnotationAssertion( "EFO:0009839"^^xsd:string) AnnotationAssertion( "Decreased Respiratory Rate"^^xsd:string) AnnotationAssertion( "Rate Of Respiration, Decreased"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003280"^^xsd:string) AnnotationAssertion(rdfs:label "bradypnea"^^xsd:string) SubClassOf( ) # Class: (Spontaneous Abortions) AnnotationAssertion(Annotation( "MESH:D000022"^^xsd:string) "Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference."^^xsd:string) AnnotationAssertion( "EFO:1001255"^^xsd:string) AnnotationAssertion( "EFO:1001491"^^xsd:string) AnnotationAssertion( "MESH:D000022"^^xsd:string) AnnotationAssertion( "miscarriage"^^xsd:string) AnnotationAssertion( "miscarriages"^^xsd:string) AnnotationAssertion( "spontaneous abortion"^^xsd:string) AnnotationAssertion( "tubal abortion"^^xsd:string) AnnotationAssertion( "tubal abortions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003281"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Abortions"^^xsd:string) SubClassOf( ) # Class: (Hyperproinsulinemia) AnnotationAssertion( "MIM:616214"^^xsd:string) AnnotationAssertion( "EFO:0009650"^^xsd:string) AnnotationAssertion( "MESH:C562776"^^xsd:string) AnnotationAssertion( "RDO:0012350"^^xsd:string) AnnotationAssertion( "hyperproinsulinemia, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "insulin chicago"^^xsd:string) AnnotationAssertion( "insulin los angeles"^^xsd:string) AnnotationAssertion( "insulin wakayama"^^xsd:string) AnnotationAssertion( "proinsulin kyoto"^^xsd:string) AnnotationAssertion( "proinsulin providence"^^xsd:string) AnnotationAssertion( "DOID:9003282"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperproinsulinemia"^^xsd:string) SubClassOf( ) # Class: (Transcobalamin I Deficiency) AnnotationAssertion( "MIM:193090"^^xsd:string) AnnotationAssertion( "MESH:C562798"^^xsd:string) AnnotationAssertion( "Cobalamin Pseudodeficiency due to Transcobalamin Deficiency"^^xsd:string) AnnotationAssertion( "Cobalamin R Binder Protein Deficiency"^^xsd:string) AnnotationAssertion( "TCN1 deficiency"^^xsd:string) AnnotationAssertion( "R Binder Deficiency with Lactoferrin Deficiency"^^xsd:string) AnnotationAssertion( "Transcobalamin I Deficiency with Lactoferrin Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003283"^^xsd:string) AnnotationAssertion(rdfs:label "Transcobalamin I Deficiency"^^xsd:string) SubClassOf( ) # Class: (HIV Seropositivity) AnnotationAssertion(Annotation( "MESH:D006679"^^xsd:string) "Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV)."^^xsd:string) AnnotationAssertion( "EFO:0004510"^^xsd:string) AnnotationAssertion( "MESH:D006679"^^xsd:string) AnnotationAssertion( "AIDS Seroconversion"^^xsd:string) AnnotationAssertion( "AIDS Seroconversions"^^xsd:string) AnnotationAssertion( "AIDS Seropositivities"^^xsd:string) AnnotationAssertion( "AIDS Seropositivity"^^xsd:string) AnnotationAssertion( "Anti HIV Positivity"^^xsd:string) AnnotationAssertion( "Anti-HIV Positivities"^^xsd:string) AnnotationAssertion( "HIV Antibody Positivities"^^xsd:string) AnnotationAssertion( "HIV Antibody Positivity"^^xsd:string) AnnotationAssertion( "HIV Seroconversion"^^xsd:string) AnnotationAssertion( "HIV Seroconversions"^^xsd:string) AnnotationAssertion( "HIV Seropositivities"^^xsd:string) AnnotationAssertion( "HTLV III Seroconversion"^^xsd:string) AnnotationAssertion( "HTLV III Seropositivity"^^xsd:string) AnnotationAssertion( "HTLV-III Seroconversions"^^xsd:string) AnnotationAssertion( "HTLV-III Seropositivities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003284"^^xsd:string) AnnotationAssertion(rdfs:label "HIV Seropositivity"^^xsd:string) SubClassOf( ) # Class: (Odontotrichoungual-Digital-Palmar Syndrome) AnnotationAssertion( "MIM:601957"^^xsd:string) AnnotationAssertion( "MESH:C566598"^^xsd:string) AnnotationAssertion( "OTUDP Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003285"^^xsd:string) AnnotationAssertion(rdfs:label "Odontotrichoungual-Digital-Palmar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diplopia) AnnotationAssertion(Annotation( "MESH:D004172"^^xsd:string) "A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE."^^xsd:string) AnnotationAssertion( "MESH:D004172"^^xsd:string) AnnotationAssertion( "Cortical Diplopia"^^xsd:string) AnnotationAssertion( "Cortical Diplopias"^^xsd:string) AnnotationAssertion( "Diplopias"^^xsd:string) AnnotationAssertion( "Double Vision"^^xsd:string) AnnotationAssertion( "Horizontal Diplopia"^^xsd:string) AnnotationAssertion( "Horizontal Diplopias"^^xsd:string) AnnotationAssertion( "Intermittent Diplopia"^^xsd:string) AnnotationAssertion( "Intermittent Diplopias"^^xsd:string) AnnotationAssertion( "Monocular Diplopia"^^xsd:string) AnnotationAssertion( "Monocular Diplopias"^^xsd:string) AnnotationAssertion( "Polyopsia"^^xsd:string) AnnotationAssertion( "Polyopsias"^^xsd:string) AnnotationAssertion( "Refractive Diplopia"^^xsd:string) AnnotationAssertion( "Refractive Diplopias"^^xsd:string) AnnotationAssertion( "Unilateral Diplopia"^^xsd:string) AnnotationAssertion( "Unilateral Diplopias"^^xsd:string) AnnotationAssertion( "Vertical Diplopia"^^xsd:string) AnnotationAssertion( "Vertical Diplopias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003286"^^xsd:string) AnnotationAssertion(rdfs:label "Diplopia"^^xsd:string) SubClassOf( ) # Class: (Body Weight Changes) AnnotationAssertion(Annotation( "MESH:D001836"^^xsd:string) "A clinical manifestation consisting of alterations in an individual's weight from his or her norm."^^xsd:string) AnnotationAssertion( "MESH:D001836"^^xsd:string) AnnotationAssertion( "Body Weight Change"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003287"^^xsd:string) AnnotationAssertion(rdfs:label "Body Weight Changes"^^xsd:string) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 10) AnnotationAssertion( "RDO:9001624"^^xsd:string) AnnotationAssertion( "MIM:617022"^^xsd:string) AnnotationAssertion( "LCCS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003288"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 10"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM) AnnotationAssertion(Annotation( "MIM:620250"^^xsd:string) "This disease is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-04T10:32:22Z"^^xsd:string) AnnotationAssertion( "MIM:620250"^^xsd:string) AnnotationAssertion( "NEDSSCC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003289"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Otofacioosseous-Gonadal Syndrome) AnnotationAssertion( "MIM:601976"^^xsd:string) AnnotationAssertion( "MESH:C566597"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003290"^^xsd:string) AnnotationAssertion(rdfs:label "Otofacioosseous-Gonadal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aggressive Fibromatosis) AnnotationAssertion(Annotation( "MESH:D018222"^^xsd:string) "A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018222"^^xsd:string) AnnotationAssertion( "Aggressive Fibromatoses"^^xsd:string) AnnotationAssertion( "Desmoid"^^xsd:string) AnnotationAssertion( "Desmoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003291"^^xsd:string) AnnotationAssertion(rdfs:label "Aggressive Fibromatosis"^^xsd:string) SubClassOf( ) # Class: (Intracranial Subdural Hematoma) AnnotationAssertion(Annotation( "MESH:D046648"^^xsd:string) "Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE."^^xsd:string) AnnotationAssertion( "EFO:1001801"^^xsd:string) AnnotationAssertion( "MESH:D046648"^^xsd:string) AnnotationAssertion( "cranial subdural hematoma"^^xsd:string) AnnotationAssertion( "intracranial subdural hematomas"^^xsd:string) AnnotationAssertion( "traumatic intracranial subdural hematoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003292"^^xsd:string) AnnotationAssertion(rdfs:label "Intracranial Subdural Hematoma"^^xsd:string) SubClassOf( ) # Class: (Li-Campeau Syndrome) AnnotationAssertion( "An autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Caused by homozygous or compound heterozygous mutation in the UBR7 gene on chromosome 19q32. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-19T10:22:11Z"^^xsd:string) AnnotationAssertion( "MIM:619189"^^xsd:string) AnnotationAssertion( "NCI:C201589"^^xsd:string) AnnotationAssertion( "LICAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003293"^^xsd:string) AnnotationAssertion(rdfs:label "Li-Campeau Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Heterotopic Ossification) AnnotationAssertion(Annotation( "MESH:D009999"^^xsd:string) "The development of bony substance in normally soft structures."^^xsd:string) AnnotationAssertion( "RDO:0001319"^^xsd:string) AnnotationAssertion( "MESH:D009999"^^xsd:string) AnnotationAssertion( "Ectopic Ossification"^^xsd:string) AnnotationAssertion( "Pathologic Ossification"^^xsd:string) AnnotationAssertion( "Pathological Ossification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003295"^^xsd:string) AnnotationAssertion(rdfs:label "Heterotopic Ossification"^^xsd:string) SubClassOf( ) # Class: (Chromosome 8, Trisomy 8p) AnnotationAssertion( "MESH:C538019"^^xsd:string) AnnotationAssertion( "RDO:0003953"^^xsd:string) AnnotationAssertion( "Duplication 8p"^^xsd:string) AnnotationAssertion( "Trisomy 8p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003296"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Trisomy 8p"^^xsd:string) SubClassOf( ) # Class: (HLA Class 1 Deficiency) AnnotationAssertion( "MESH:C538465"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003297"^^xsd:string) AnnotationAssertion(rdfs:label "HLA Class 1 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to) AnnotationAssertion( "MIM:614164"^^xsd:string) AnnotationAssertion( "MESH:C564217"^^xsd:string) AnnotationAssertion( "RDO:0013254"^^xsd:string) AnnotationAssertion( "GLUTATHIONE PEROXIDASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "GPXD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003298"^^xsd:string) AnnotationAssertion(rdfs:label "Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to"^^xsd:string) SubClassOf( ) # Class: (Short Limb Dwarfism Al Gazali Type) AnnotationAssertion( "MIM:601356"^^xsd:string) AnnotationAssertion( "MESH:C537598"^^xsd:string) AnnotationAssertion( "Lethal neonatal short limb dwarfism"^^xsd:string) AnnotationAssertion( "Lethal short-limb skeletal dysplasia, Al Gazali type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003299"^^xsd:string) AnnotationAssertion(rdfs:label "Short Limb Dwarfism Al Gazali Type"^^xsd:string) SubClassOf( ) # Class: (Remitting Chorea with Nystagmus and Cataracts) AnnotationAssertion( "MIM:601372"^^xsd:string) AnnotationAssertion( "MESH:C535355"^^xsd:string) AnnotationAssertion( "Familial remitting chorea, nystagmus and cataracts"^^xsd:string) AnnotationAssertion( "remitting chorea with nystagmus and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003300"^^xsd:string) AnnotationAssertion(rdfs:label "Remitting Chorea with Nystagmus and Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Micromelic Dwarfism Fryns Type) AnnotationAssertion( "MIM:601096"^^xsd:string) AnnotationAssertion( "MESH:C537556"^^xsd:string) AnnotationAssertion( "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects"^^xsd:string) AnnotationAssertion( "micromelic spondyloepimetaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003301"^^xsd:string) AnnotationAssertion(rdfs:label "Micromelic Dwarfism Fryns Type"^^xsd:string) SubClassOf( ) # Class: (Monosomy 7 Myelodysplasia and Leukemia Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-11T14:58:24Z"^^xsd:string) AnnotationAssertion( "MIM:619041"^^xsd:string) AnnotationAssertion( "M7MLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003302"^^xsd:string) AnnotationAssertion(rdfs:label "Monosomy 7 Myelodysplasia and Leukemia Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Meningism) AnnotationAssertion(Annotation( "MESH:D008580"^^xsd:string) "A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)"^^xsd:string) AnnotationAssertion( "MESH:D008580"^^xsd:string) AnnotationAssertion( "Dupre Syndrome"^^xsd:string) AnnotationAssertion( "Dupre's syndrome"^^xsd:string) AnnotationAssertion( "Dupres Syndrome"^^xsd:string) AnnotationAssertion( "Meningisms"^^xsd:string) AnnotationAssertion( "Meningismus"^^xsd:string) AnnotationAssertion( "Meningitis Like Reaction"^^xsd:string) AnnotationAssertion( "Meningitis-Like Reactions"^^xsd:string) AnnotationAssertion( "Pseudomeningitides"^^xsd:string) AnnotationAssertion( "pseudomeningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003303"^^xsd:string) AnnotationAssertion(rdfs:label "Meningism"^^xsd:string) SubClassOf( ) # Class: (Kozlowski Rafinski Klicharska Syndrome) AnnotationAssertion( "MESH:C537509"^^xsd:string) AnnotationAssertion( "Metaphyseal and epiphyseal dysplasia with unusual facies and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003304"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski Rafinski Klicharska Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Thrombophilia due to Factor VIII Defect) AnnotationAssertion(Annotation( "MIM:301071"^^xsd:string) "A disease associated with markedly elevated F8 levels and severe thrombophilia. Caused by mutation in the F8 gene on chromosome Xq28."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-28T19:29:59Z"^^xsd:string) AnnotationAssertion( "F8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:301071"^^xsd:string) AnnotationAssertion( "THPH13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003305"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Thrombophilia due to Factor VIII Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hair Defect with Photosensitivity and Mental Retardation) AnnotationAssertion( "MIM:234030"^^xsd:string) AnnotationAssertion( "MESH:C537628"^^xsd:string) AnnotationAssertion( "Calderon Gonzalez-Cantu syndrome"^^xsd:string) AnnotationAssertion( "Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003306"^^xsd:string) AnnotationAssertion(rdfs:label "Hair Defect with Photosensitivity and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sex Chromosome Aberrations) AnnotationAssertion(Annotation( "MESH:D012729"^^xsd:string) "Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT."^^xsd:string) AnnotationAssertion( "MESH:D012729"^^xsd:string) AnnotationAssertion( "RDO:0000144"^^xsd:string) AnnotationAssertion( "Sex Chromosome Aberration"^^xsd:string) AnnotationAssertion( "Sex Chromosome Abnormalities"^^xsd:string) AnnotationAssertion( "Sex Chromosome Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003307"^^xsd:string) AnnotationAssertion(rdfs:label "Sex Chromosome Aberrations"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypomyelinating Neuropathy 3) AnnotationAssertion(Annotation( "MIM:618186"^^xsd:string) "An autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development. Sural nerve biopsy shows hypomyelination of the nerve fibers. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T14:07:37Z"^^xsd:string) AnnotationAssertion( "MIM:618186"^^xsd:string) AnnotationAssertion( "CHN3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003308"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypomyelinating Neuropathy 3"^^xsd:string) SubClassOf( ) # Class: (Arm Injuries) AnnotationAssertion(Annotation( "MESH:D001134"^^xsd:string) "General or unspecified injuries involving the UPPER ARM and the FOREARM."^^xsd:string) AnnotationAssertion( "MESH:D001134"^^xsd:string) AnnotationAssertion( "RDO:0004905"^^xsd:string) AnnotationAssertion( "Arm Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003309"^^xsd:string) AnnotationAssertion(rdfs:label "Arm Injuries"^^xsd:string) SubClassOf( ) # Class: (IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION) AnnotationAssertion(Annotation( "MIM:619644"^^xsd:string) "This disease is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-08T13:54:17Z"^^xsd:string) AnnotationAssertion( "MIM:619644"^^xsd:string) AnnotationAssertion( "IMD91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003310"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION"^^xsd:string) SubClassOf( ) # Class: (Urinary Calculi) AnnotationAssertion(Annotation( "MESH:D014545"^^xsd:string) "Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID."^^xsd:string) AnnotationAssertion( "MESH:D014545"^^xsd:string) AnnotationAssertion( "Urinary Calculus"^^xsd:string) AnnotationAssertion( "Urinary Stone"^^xsd:string) AnnotationAssertion( "Urinary Stones"^^xsd:string) AnnotationAssertion( "Urinary Tract Stone"^^xsd:string) AnnotationAssertion( "Urinary Tract Stones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003311"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Calculi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency) AnnotationAssertion( "MIM:613839"^^xsd:string) AnnotationAssertion( "MESH:C565095"^^xsd:string) AnnotationAssertion( "DHFR Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003312"^^xsd:string) AnnotationAssertion(rdfs:label "Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Occipital Cortical Malformations) AnnotationAssertion( "A syndrome characterized by seizures, sometimes associated with transient visual changes."^^xsd:string) AnnotationAssertion( "RDO:9000254"^^xsd:string) AnnotationAssertion( "MIM:614115"^^xsd:string) AnnotationAssertion( "OCCM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003313"^^xsd:string) AnnotationAssertion(rdfs:label "Occipital Cortical Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Agenesis 1) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-14T15:04:45Z"^^xsd:string) AnnotationAssertion( "PDX1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:260370"^^xsd:string) AnnotationAssertion( "PAGEN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003314"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Agenesis 1"^^xsd:string) SubClassOf( ) # Class: (Lubs Syndrome) AnnotationAssertion( "MESH:C538435"^^xsd:string) AnnotationAssertion( "Pseudohermaphroditism, Incomplete Male, Type I"^^xsd:string) AnnotationAssertion( "Rosewater syndrome"^^xsd:string) AnnotationAssertion( "Type I familial incomplete male pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003315"^^xsd:string) AnnotationAssertion(rdfs:label "Lubs Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Colloid Cysts) AnnotationAssertion(Annotation( "MESH:D056364"^^xsd:string) "Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usually arise in the anterior portion of the THIRD VENTRICLE between the fornices."^^xsd:string) AnnotationAssertion( "MESH:D056364"^^xsd:string) AnnotationAssertion( "Colloid Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003316"^^xsd:string) AnnotationAssertion(rdfs:label "Colloid Cysts"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-14T15:15:49Z"^^xsd:string) AnnotationAssertion( "MIM:500013"^^xsd:string) AnnotationAssertion( "CMTMA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003317"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 1) AnnotationAssertion( "MIM:148300"^^xsd:string) AnnotationAssertion( "VSX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563649"^^xsd:string) AnnotationAssertion( "KTCN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003318"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 1"^^xsd:string) SubClassOf( ) # Class: (Pronation-Supination Of The Forearm, Impairment Of) AnnotationAssertion( "MIM:176800"^^xsd:string) AnnotationAssertion( "MESH:C566757"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003319"^^xsd:string) AnnotationAssertion(rdfs:label "Pronation-Supination Of The Forearm, Impairment Of"^^xsd:string) SubClassOf( ) # Class: (Myofibrillar Myopathy 12) AnnotationAssertion( "A severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Caused by homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T17:08:44Z"^^xsd:string) AnnotationAssertion( "MIM:619424"^^xsd:string) AnnotationAssertion( "MFM12"^^xsd:string) AnnotationAssertion( "myofibrillar myopathy 12, infantile-onset, with cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003320"^^xsd:string) AnnotationAssertion(rdfs:label "Myofibrillar Myopathy 12"^^xsd:string) SubClassOf( ) # Class: (Bacterial Keratitis) AnnotationAssertion( "Bacterial infection of the cornea which can follow from an injury or from wearing contact lenses."^^xsd:string) AnnotationAssertion( "RDO:9000039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003321"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 5) AnnotationAssertion( "MIM:611494"^^xsd:string) AnnotationAssertion( "RDO:0015140"^^xsd:string) AnnotationAssertion( "MESH:C566932"^^xsd:string) AnnotationAssertion( "ATFB5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003322"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 5"^^xsd:string) SubClassOf( ) # Class: (Multifocal Fibromuscular Dysplasia) AnnotationAssertion( "Characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Caused by heterozygous mutation in the COL5A1 gene on chromosome 9q34. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-19T11:56:39Z"^^xsd:string) AnnotationAssertion( "COL5A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619329"^^xsd:string) AnnotationAssertion( "FMDMF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003323"^^xsd:string) AnnotationAssertion(rdfs:label "Multifocal Fibromuscular Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Dysfibrinogenemia Causing Recurrent Thrombosis) AnnotationAssertion( "MESH:C565018"^^xsd:string) AnnotationAssertion( "RDO:0013776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003324"^^xsd:string) AnnotationAssertion(rdfs:label "Dysfibrinogenemia Causing Recurrent Thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency) AnnotationAssertion( "MIM:600351"^^xsd:string) AnnotationAssertion( "MESH:C563949"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003325"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perrault Syndrome 1) AnnotationAssertion( "MIM:233400"^^xsd:string) AnnotationAssertion( "HSD17B4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537286"^^xsd:string) AnnotationAssertion( "Gonadal dysgenesis, XX type, with deafness"^^xsd:string) AnnotationAssertion( "Ovarian dysgenesis with sensorineural deafness"^^xsd:string) AnnotationAssertion( "PRLTS1"^^xsd:string) AnnotationAssertion( "deficiency of 17-beta-hydroxysteroid dehydrogenase 4"^^xsd:string) AnnotationAssertion( "gonadal dysgenesis XX type deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003326"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cobblestone Lissencephaly) AnnotationAssertion(Annotation( "MESH:D054222"^^xsd:string) "The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease."^^xsd:string) AnnotationAssertion( "MESH:D054222"^^xsd:string) AnnotationAssertion( "Cobblestone Complex"^^xsd:string) AnnotationAssertion( "Cobblestone Dysplasia"^^xsd:string) AnnotationAssertion( "Cobblestone Dysplasias"^^xsd:string) AnnotationAssertion( "Cobblestone Lissencephalies"^^xsd:string) AnnotationAssertion( "Lissencephaly Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003328"^^xsd:string) AnnotationAssertion(rdfs:label "Cobblestone Lissencephaly"^^xsd:string) SubClassOf( ) # Class: (Tooth Attrition) AnnotationAssertion(Annotation( "MESH:D019217"^^xsd:string) "The wearing away of a tooth as a result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It is chiefly associated with aging. It is differentiated from TOOTH ABRASION (the pathologic wearing away of the tooth substance by friction, as brushing, bruxism, clenching, and other mechanical causes) and from TOOTH EROSION (the loss of substance caused by chemical action without bacterial action). (Jablonski, Dictionary of Dentistry, 1992, p86)"^^xsd:string) AnnotationAssertion( "MESH:D019217"^^xsd:string) AnnotationAssertion( "Dental Attrition"^^xsd:string) AnnotationAssertion( "Dental Attritions"^^xsd:string) AnnotationAssertion( "Occlusal Wear"^^xsd:string) AnnotationAssertion( "Occlusal Wears"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003329"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Attrition"^^xsd:string) SubClassOf( ) # Class: (Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia) AnnotationAssertion( "MIM:605642"^^xsd:string) AnnotationAssertion( "MESH:C565310"^^xsd:string) AnnotationAssertion( "PRN1"^^xsd:string) AnnotationAssertion( "PTCPRN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003330"^^xsd:string) AnnotationAssertion(rdfs:label "Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3) AnnotationAssertion( "A rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Caused by mutation in the LMOD1 gene on chromosome 1q32. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-03T09:53:50Z"^^xsd:string) AnnotationAssertion( "MIM:619362"^^xsd:string) AnnotationAssertion( "MMIHS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003331"^^xsd:string) AnnotationAssertion(rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 4A, Axonal Form) AnnotationAssertion( "RDO:0004605"^^xsd:string) AnnotationAssertion( "RDO:0009131"^^xsd:string) AnnotationAssertion( "MESH:C539595"^^xsd:string) AnnotationAssertion( "MIM:607706"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH WITH VOCAL CORD PARESIS"^^xsd:string) AnnotationAssertion( "CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003332"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 4A, Axonal Form"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Syndactyly Type 6) AnnotationAssertion( "A rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. (ORPHA)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-21T09:02:25Z"^^xsd:string) AnnotationAssertion( "ORDO:295012"^^xsd:string) AnnotationAssertion( "Mitten hand"^^xsd:string) AnnotationAssertion( "Syndactyly, mitten type"^^xsd:string) AnnotationAssertion( "Unilateral syndactyly of digits 2-5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003334"^^xsd:string) AnnotationAssertion(rdfs:label "Syndactyly Type 6"^^xsd:string) SubClassOf( ) # Class: (HTLV-II Infections) AnnotationAssertion(Annotation( "MESH:D015491"^^xsd:string) "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 2."^^xsd:string) AnnotationAssertion( "EFO:1001349"^^xsd:string) AnnotationAssertion( "MESH:D015491"^^xsd:string) AnnotationAssertion( "RDO:0006892"^^xsd:string) AnnotationAssertion( "HTLV-II Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003335"^^xsd:string) AnnotationAssertion(rdfs:label "HTLV-II Infections"^^xsd:string) SubClassOf( ) # Class: (Neonatal Zinc Deficiency due to Low Breast Milk Zinc) AnnotationAssertion( "MIM:608118"^^xsd:string) AnnotationAssertion( "MESH:C564286"^^xsd:string) AnnotationAssertion( "TNZD"^^xsd:string) AnnotationAssertion( "transient neonatal zinc deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "reduced zinc in breast milk"^^xsd:string) AnnotationAssertion( "DOID:9003336"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Zinc Deficiency due to Low Breast Milk Zinc"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multilocular Encephalomalacia) AnnotationAssertion( "MIM:225700"^^xsd:string) AnnotationAssertion( "MESH:C565597"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003337"^^xsd:string) AnnotationAssertion(rdfs:label "Multilocular Encephalomalacia"^^xsd:string) SubClassOf( ) # Class: (Focal Infection) AnnotationAssertion(Annotation( "MESH:D005490"^^xsd:string) "An infection at a specific location that may spread to another region of the body."^^xsd:string) AnnotationAssertion( "MESH:D005490"^^xsd:string) AnnotationAssertion( "RDO:0005617"^^xsd:string) AnnotationAssertion( "Focal Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003338"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Infection"^^xsd:string) SubClassOf( ) # Class: (Radiculoneuropathy, Fatal Neonatal) AnnotationAssertion( "MIM:266250"^^xsd:string) AnnotationAssertion( "MESH:C564857"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003339"^^xsd:string) AnnotationAssertion(rdfs:label "Radiculoneuropathy, Fatal Neonatal"^^xsd:string) SubClassOf( ) # Class: (Neonatal Alloimmune Thrombocytopenia) AnnotationAssertion(Annotation( "MESH:D054098"^^xsd:string) "A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES."^^xsd:string) AnnotationAssertion( "MESH:D054098"^^xsd:string) AnnotationAssertion( "NCI:C101200"^^xsd:string) AnnotationAssertion( "FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA"^^xsd:string) AnnotationAssertion( "NAIT"^^xsd:string) AnnotationAssertion( "Neonatal Alloimmune Thrombocytopenias"^^xsd:string) AnnotationAssertion( "Neonatal Thrombocytopenia"^^xsd:string) AnnotationAssertion( "Neonatal Thrombocytopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BAK PLATELET-SPECIFIC ANTIGEN"^^xsd:string) AnnotationAssertion( "Ca/Tu Alloantigen Polymorphism"^^xsd:string) AnnotationAssertion( "Mo Alloantigen Polymorphism"^^xsd:string) AnnotationAssertion( "PEN(a)/PEN(b) Alloantigen Polymorphism"^^xsd:string) AnnotationAssertion( "DOID:9003340"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Alloimmune Thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vesicoureteral Reflux 7) AnnotationAssertion( "MIM:615390"^^xsd:string) AnnotationAssertion( "VUR7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003341"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 7"^^xsd:string) SubClassOf( ) # Class: (Microphthalmia, Cataracts, and Iris Abnormalities) AnnotationAssertion( "MESH:C566448"^^xsd:string) AnnotationAssertion( "RDO:0014799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003342"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia, Cataracts, and Iris Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alpha-Thalassemia-2, Nondeletional) AnnotationAssertion( "A disorder characterized by reduced synthesis of the alpha chains of hemoglobin, caused not by genetic deletions, but other types of alpha hemoglobin mutations."^^xsd:string) AnnotationAssertion( "Hemoglobin H Disease, Nondeletional"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN PLASENCIA"^^xsd:string) AnnotationAssertion( "DOID:9003343"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Thalassemia-2, Nondeletional"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES) AnnotationAssertion( "An autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617532"^^xsd:string) AnnotationAssertion( "RDO:9001746"^^xsd:string) AnnotationAssertion( "IDDNPF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003344"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 12, Trisomy 12q) AnnotationAssertion( "MESH:C538300"^^xsd:string) AnnotationAssertion( "Duplication 12q"^^xsd:string) AnnotationAssertion( "Trisomy 12q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003345"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 12, Trisomy 12q"^^xsd:string) SubClassOf( ) # Class: (Distal Myopathy 7) AnnotationAssertion(Annotation( "MIM:301075"^^xsd:string) "An X-linked recessive disorder affecting only males characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. Caused by hemizygous mutation in the SMPX gene on chromosome Xp22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-18T09:35:12Z"^^xsd:string) AnnotationAssertion( "MIM:301075"^^xsd:string) AnnotationAssertion( "MPD7"^^xsd:string) AnnotationAssertion( "X-linked adult-onset distal myopathy 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003346"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Myopathy 7"^^xsd:string) SubClassOf( ) # Class: (Pediatric Ulcerative Colitis) AnnotationAssertion( "MESH:C536315"^^xsd:string) AnnotationAssertion( "RDO:0001847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003347"^^xsd:string) AnnotationAssertion(rdfs:label "Pediatric Ulcerative Colitis"^^xsd:string) SubClassOf( ) # Class: (Congenital Generalized Lipodystrophy Type 5) AnnotationAssertion(Annotation( "MIM:620680"^^xsd:string) "An autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Caused by compound heterozygous mutation in the PCYT1A gene on chromosome 3q29."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:49:33Z"^^xsd:string) AnnotationAssertion( "MIM:620680"^^xsd:string) AnnotationAssertion( "CGL5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003348"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Generalized Lipodystrophy Type 5"^^xsd:string) SubClassOf( ) # Class: (Rothmund-Thomson Syndrome Type 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-18T10:42:17Z"^^xsd:string) AnnotationAssertion( "MIM:618625"^^xsd:string) AnnotationAssertion( "RTS1"^^xsd:string) AnnotationAssertion( "Rothmund-Thomson syndrome 1"^^xsd:string) AnnotationAssertion( "poikiloderma atrophicans and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003349"^^xsd:string) AnnotationAssertion(rdfs:label "Rothmund-Thomson Syndrome Type 1"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly) AnnotationAssertion( "MIM:604211"^^xsd:string) AnnotationAssertion( "MESH:C565817"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003350"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (VDAC Deficiency) AnnotationAssertion( "MESH:C565767"^^xsd:string) AnnotationAssertion( "RDO:0014317"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003351"^^xsd:string) AnnotationAssertion(rdfs:label "VDAC Deficiency"^^xsd:string) SubClassOf( ) # Class: (Yang Deficiency) AnnotationAssertion(Annotation( "MESH:D016711"^^xsd:string) "In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)"^^xsd:string) AnnotationAssertion( "EFO:0006817"^^xsd:string) AnnotationAssertion( "MESH:D016711"^^xsd:string) AnnotationAssertion( "Yang Hsu"^^xsd:string) AnnotationAssertion( "Yang Xu"^^xsd:string) AnnotationAssertion( "Yangxu"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003352"^^xsd:string) AnnotationAssertion(rdfs:label "Yang Deficiency"^^xsd:string) SubClassOf( ) # Class: (Systemic Lupus Erythematosus 16) AnnotationAssertion( "MIM:614420"^^xsd:string) AnnotationAssertion( "SLEB16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003353"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Lupus Erythematosus 16"^^xsd:string) SubClassOf( ) # Class: (Acropectorovertebral Dysplasia) AnnotationAssertion( "MIM:102510"^^xsd:string) AnnotationAssertion( "GARD:512"^^xsd:string) AnnotationAssertion( "MESH:C566319"^^xsd:string) AnnotationAssertion( "MONDO:0007058"^^xsd:string) AnnotationAssertion( "ORDO:957"^^xsd:string) AnnotationAssertion( "ACRPV"^^xsd:string) AnnotationAssertion( "Acropectorovertebral Dysplasia, F-Form"^^xsd:string) AnnotationAssertion( "F syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003354"^^xsd:string) AnnotationAssertion(rdfs:label "Acropectorovertebral Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Trochlear Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061247"^^xsd:string) "Traumatic injuries to the TROCHLEAR NERVE."^^xsd:string) AnnotationAssertion( "MESH:D061247"^^xsd:string) AnnotationAssertion( "RDO:0010065"^^xsd:string) AnnotationAssertion( "Cranial Nerve IV Injury"^^xsd:string) AnnotationAssertion( "Fourth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Fourth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Fourth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Fourth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Fourth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Fourth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Traumatic Trochlear Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Trochlear Neuropathy"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Contusion"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Contusions"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Injury"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Transection"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Transections"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Trauma"^^xsd:string) AnnotationAssertion( "Trochlear Nerve Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003355"^^xsd:string) AnnotationAssertion(rdfs:label "Trochlear Nerve Injuries"^^xsd:string) SubClassOf( ) # Class: (Extrahepatic Portal Vein Obstruction) AnnotationAssertion( "Obstruction by a blood clot (THROMBUS) or malignant obstruction of that part of the portal vein not surrounded by liver tissue."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003356"^^xsd:string) AnnotationAssertion(rdfs:label "Extrahepatic Portal Vein Obstruction"^^xsd:string) SubClassOf( ) # Class: (Heat Exhaustion) AnnotationAssertion(Annotation( "MESH:D006359"^^xsd:string) "A clinical syndrome caused by heat stress, such as over-exertion in a hot environment or excessive exposure to sun. It is characterized by SWEATING, water (volume) depletion, salt depletion, cool clammy skin, NAUSEA, and HEADACHE."^^xsd:string) AnnotationAssertion( "MESH:D006359"^^xsd:string) AnnotationAssertion( "Heat Collapse"^^xsd:string) AnnotationAssertion( "Heat Prostration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003357"^^xsd:string) AnnotationAssertion(rdfs:label "Heat Exhaustion"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chiari Malformation Type I with Syringomyelia) AnnotationAssertion( "MESH:C566133"^^xsd:string) AnnotationAssertion( "CM1 with Syringomyelia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003359"^^xsd:string) AnnotationAssertion(rdfs:label "Chiari Malformation Type I with Syringomyelia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infectious Keratoconjunctivitis) AnnotationAssertion(Annotation( "MESH:D007639"^^xsd:string) "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is MORAXELLA (MORAXELLA) BOVIS; in sheep, MYCOPLASMA; RICKETTSIA; CHLAMYDIA; or ACHOLEPLASMA; in goats, RICKETTSIA."^^xsd:string) AnnotationAssertion( "MESH:D007639"^^xsd:string) AnnotationAssertion( "Infectious Keratoconjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003360"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Keratoconjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET) AnnotationAssertion(Annotation( "MIM:619871"^^xsd:string) "This disease is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-13T14:38:08Z"^^xsd:string) AnnotationAssertion( "MIM:619871"^^xsd:string) AnnotationAssertion( "PPPCD"^^xsd:string) AnnotationAssertion( "punctiform and polychromatic pre-Descemet corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003361"^^xsd:string) AnnotationAssertion(rdfs:label "CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET"^^xsd:string) SubClassOf( ) # Class: (Aortopulmonary Septal Defect) AnnotationAssertion(Annotation( "MESH:D001028"^^xsd:string) "A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE)."^^xsd:string) AnnotationAssertion( "MESH:D001028"^^xsd:string) AnnotationAssertion( "RDO:0004884"^^xsd:string) AnnotationAssertion( "Aorticopulmonary Septal Defect"^^xsd:string) AnnotationAssertion( "Aorticopulmonary Septal Defects"^^xsd:string) AnnotationAssertion( "Aortopulmonary Septal Defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003362"^^xsd:string) AnnotationAssertion(rdfs:label "Aortopulmonary Septal Defect"^^xsd:string) SubClassOf( ) # Class: (Basilar Skull Fracture) AnnotationAssertion(Annotation( "MESH:D020205"^^xsd:string) "Fractures which extend through the base of the SKULL, usually involving the PETROUS BONE. Battle's sign (characterized by skin discoloration due to extravasation of blood into the subcutaneous tissue behind the ear and over the mastoid process), CRANIAL NEUROPATHIES, TRAUMATIC; CAROTID-CAVERNOUS SINUS FISTULA; and CEREBROSPINAL FLUID OTORRHEA are relatively frequent sequelae of this condition. (Adams et al., Principles of Neurology, 6th ed, p876)"^^xsd:string) AnnotationAssertion( "MESH:D020205"^^xsd:string) AnnotationAssertion( "Basilar Skull Fractures"^^xsd:string) AnnotationAssertion( "Battle Sign"^^xsd:string) AnnotationAssertion( "Battle's Sign"^^xsd:string) AnnotationAssertion( "Battles Sign"^^xsd:string) AnnotationAssertion( "Frontobasilar Skull Fracture"^^xsd:string) AnnotationAssertion( "Frontobasilar Skull Fractures"^^xsd:string) AnnotationAssertion( "Skull Fracture, Basilar, Childhood"^^xsd:string) AnnotationAssertion( "Skull Fracture, Transphenoid Basilar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003363"^^xsd:string) AnnotationAssertion(rdfs:label "Basilar Skull Fracture"^^xsd:string) SubClassOf( ) # Class: (Benign Neonatal Epilepsy, 1, Atypical Severe) AnnotationAssertion( "DOID:9008252"^^xsd:string) AnnotationAssertion( "MESH:C567745"^^xsd:string) AnnotationAssertion( "MESH:C567746"^^xsd:string) AnnotationAssertion( "Benign Familial Neonatal Convulsions 1, Atypical Severe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003364"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Neonatal Epilepsy, 1, Atypical Severe"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher Syndrome Type 1B) AnnotationAssertion( "MIM:276900"^^xsd:string) AnnotationAssertion( "MESH:C536485"^^xsd:string) AnnotationAssertion( "MESH:C564755"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS"^^xsd:string) AnnotationAssertion( "USH1A"^^xsd:string) AnnotationAssertion( "USH1B"^^xsd:string) AnnotationAssertion( "USHER SYNDROME, TYPE I, FRENCH VARIETY"^^xsd:string) AnnotationAssertion( "Usher Syndrome Type IA"^^xsd:string) AnnotationAssertion( "Usher Syndrome Type IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003365"^^xsd:string) AnnotationAssertion(rdfs:label "Usher Syndrome Type 1B"^^xsd:string) SubClassOf( ) # Class: (Laryngopharyngeal Reflux) AnnotationAssertion(Annotation( "MESH:D057045"^^xsd:string) "Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX."^^xsd:string) AnnotationAssertion( "EFO:1001355"^^xsd:string) AnnotationAssertion( "MESH:D057045"^^xsd:string) AnnotationAssertion( "Gastric Regurgitation"^^xsd:string) AnnotationAssertion( "Supraesophageal Gastric Reflux"^^xsd:string) AnnotationAssertion( "Supraesophageal Gastric Reflux (SEGR)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003366"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngopharyngeal Reflux"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy) AnnotationAssertion( "MIM:608278"^^xsd:string) AnnotationAssertion( "MESH:C564264"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003367"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Strongylida Infections) AnnotationAssertion(Annotation( "MESH:D017206"^^xsd:string) "Infections with nematodes of the order STRONGYLIDA."^^xsd:string) AnnotationAssertion( "EFO:0007500"^^xsd:string) AnnotationAssertion( "MESH:D017206"^^xsd:string) AnnotationAssertion( "Stephanurus dentatus Infection"^^xsd:string) AnnotationAssertion( "Stephanurus dentatus Infections"^^xsd:string) AnnotationAssertion( "Strongylida Infection"^^xsd:string) AnnotationAssertion( "Syngamiases"^^xsd:string) AnnotationAssertion( "Syngamiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003369"^^xsd:string) AnnotationAssertion(rdfs:label "Strongylida Infections"^^xsd:string) SubClassOf( ) # Class: (Dyslipidemias) AnnotationAssertion(Annotation( "MESH:D050171"^^xsd:string) "Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL."^^xsd:string) AnnotationAssertion( "MESH:D050171"^^xsd:string) AnnotationAssertion( "Dyslipidemia"^^xsd:string) AnnotationAssertion( "Dyslipoproteinemia"^^xsd:string) AnnotationAssertion( "Dyslipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003370"^^xsd:string) AnnotationAssertion(rdfs:label "Dyslipidemias"^^xsd:string) SubClassOf( ) # Class: (Cerebroretinal Microangiopathy with Calcifications and Cysts 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-01T12:48:04Z"^^xsd:string) AnnotationAssertion( "MIM:612199"^^xsd:string) AnnotationAssertion( "CRMCC1"^^xsd:string) AnnotationAssertion( "CTC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Cerebroretinal microangiopathy with calcifications and cysts 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003371"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebroretinal Microangiopathy with Calcifications and Cysts 1"^^xsd:string) SubClassOf( ) # Class: (LESSEL-KREIENKAMP SYNDROME) AnnotationAssertion(Annotation( "MIM:619149"^^xsd:string) "A neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-02-15T10:29:08Z"^^xsd:string) AnnotationAssertion( "MIM:619149"^^xsd:string) AnnotationAssertion( "LESKRES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003372"^^xsd:string) AnnotationAssertion(rdfs:label "LESSEL-KREIENKAMP SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Uterine Cervical Neoplasms) AnnotationAssertion(Annotation( "MESH:D002583"^^xsd:string) "Tumors or cancer of the UTERINE CERVIX."^^xsd:string) AnnotationAssertion( "MIM:603956"^^xsd:string) AnnotationAssertion( "MESH:D002583"^^xsd:string) AnnotationAssertion( "cervical neoplasm"^^xsd:string) AnnotationAssertion( "cervical neoplasms"^^xsd:string) AnnotationAssertion( "cervix neoplasm"^^xsd:string) AnnotationAssertion( "cervix neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of uterine cervix"^^xsd:string) AnnotationAssertion( "tumor of the cervix uteri"^^xsd:string) AnnotationAssertion( "uterine cervical neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003373"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Cervical Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Cutis Laxa Type IIE) AnnotationAssertion( "Characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly. Caused by homozygous mutation in the LTBP1 gene on chromosome 2p22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T12:43:07Z"^^xsd:string) AnnotationAssertion( "MIM:619451"^^xsd:string) AnnotationAssertion( "ARCL2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003374"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Cutis Laxa Type IIE"^^xsd:string) SubClassOf( ) # Class: (Glutamyl Ribose-5-Phosphate Storage Disease) AnnotationAssertion( "MIM:305920"^^xsd:string) AnnotationAssertion( "MESH:C564422"^^xsd:string) AnnotationAssertion( "ADP-Ribose Protein Hydrolase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003375"^^xsd:string) AnnotationAssertion(rdfs:label "Glutamyl Ribose-5-Phosphate Storage Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Asymmetric Polymicrogyria) AnnotationAssertion( "RDO:0015673"^^xsd:string) AnnotationAssertion( "MESH:C567658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003377"^^xsd:string) AnnotationAssertion(rdfs:label "Asymmetric Polymicrogyria"^^xsd:string) SubClassOf( ) # Class: (Congenital Hemolytic Anemia with Emphysema and Cutis Laxa) AnnotationAssertion( "MESH:C562629"^^xsd:string) AnnotationAssertion( "Cutis Laxa, Emphysema, and Hemolytic Anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003378"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hemolytic Anemia with Emphysema and Cutis Laxa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radiation Nephropathy) AnnotationAssertion( "A kidney disease caused by iatrogenic or experimental insult of ionizing radiation to one or both kidneys."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003379"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pudendal Neuralgia) AnnotationAssertion(Annotation( "MESH:D060545"^^xsd:string) "Pain associated with a damaged PUDENDAL NERVE. Clinical features may include positional pain with sitting in the perineal and genital areas, sexual dysfunction and FECAL INCONTINENCE and URINARY INCONTINENCE."^^xsd:string) AnnotationAssertion( "MESH:D060545"^^xsd:string) AnnotationAssertion( "RDO:0010042"^^xsd:string) AnnotationAssertion( "Pudendal Canal Entrapment Syndrome"^^xsd:string) AnnotationAssertion( "Pudendal Nerve Entrapment"^^xsd:string) AnnotationAssertion( "Pudendal Nerve Entrapment Syndrome"^^xsd:string) AnnotationAssertion( "Pudendal Nerve Entrapments"^^xsd:string) AnnotationAssertion( "Pudendal Neuralgias"^^xsd:string) AnnotationAssertion( "Pudendal Neuropathies"^^xsd:string) AnnotationAssertion( "Pudendal Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003380"^^xsd:string) AnnotationAssertion(rdfs:label "Pudendal Neuralgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism) AnnotationAssertion( "MESH:C537453"^^xsd:string) AnnotationAssertion( "Fryns Dereymaeker Haegeman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003381"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diseases in Twins) AnnotationAssertion(Annotation( "MESH:D004200"^^xsd:string) "Disorders affecting TWINS, one or both, at any age."^^xsd:string) AnnotationAssertion( "MESH:D004200"^^xsd:string) AnnotationAssertion( "Diseases in Twin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003382"^^xsd:string) AnnotationAssertion(rdfs:label "Diseases in Twins"^^xsd:string) SubClassOf( ) # Class: (Bardet-Biedl Syndrome 1/2, Digenic) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003383"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl Syndrome 1/2, Digenic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Muscular Atrophy with Mental Retardation) AnnotationAssertion( "MIM:271109"^^xsd:string) AnnotationAssertion( "MESH:C564807"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003384"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hairy Ears) AnnotationAssertion( "MIM:139500"^^xsd:string) AnnotationAssertion( "MESH:C562484"^^xsd:string) AnnotationAssertion( "Hypertrichosis Pinnae Auris"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003385"^^xsd:string) AnnotationAssertion(rdfs:label "Hairy Ears"^^xsd:string) SubClassOf( ) # Class: (Sunburn) AnnotationAssertion(Annotation( "MESH:D013471"^^xsd:string) "An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight."^^xsd:string) AnnotationAssertion( "DOID:9008294"^^xsd:string) AnnotationAssertion( "MIM:611742"^^xsd:string) AnnotationAssertion( "EFO:0003958"^^xsd:string) AnnotationAssertion( "MESH:C567091"^^xsd:string) AnnotationAssertion( "MESH:D013471"^^xsd:string) AnnotationAssertion( "Sunburns"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Shep9"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 9, Brown-Nonbrown Eyes"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 9, Dark-Light Hair"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 9, Freckling And Burning"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 9, Red-Nonred Hair"^^xsd:string) AnnotationAssertion( "Skin/Hair/Eye Pigmentation, Variation In, 9"^^xsd:string) AnnotationAssertion( "DOID:9003386"^^xsd:string) AnnotationAssertion(rdfs:label "Sunburn"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (ALFADHEL SYNDROME) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-16T16:52:01Z"^^xsd:string) AnnotationAssertion( "MIM:620655"^^xsd:string) AnnotationAssertion( "AFDL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003388"^^xsd:string) AnnotationAssertion(rdfs:label "ALFADHEL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abnormal Karyotype) AnnotationAssertion(Annotation( "MESH:D059786"^^xsd:string) "A variation from the normal set of chromosomes characteristic of a species."^^xsd:string) AnnotationAssertion( "MESH:D059786"^^xsd:string) AnnotationAssertion( "RDO:0009996"^^xsd:string) AnnotationAssertion( "Abnormal Karyotypes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003389"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Karyotype"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 2) AnnotationAssertion( "MESH:C536519"^^xsd:string) AnnotationAssertion( "MIM:188000"^^xsd:string) AnnotationAssertion( "NCI:C129035"^^xsd:string) AnnotationAssertion( "ANKRD26-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Helmerhorst Heaton Crossen syndrome"^^xsd:string) AnnotationAssertion( "THC2"^^xsd:string) AnnotationAssertion( "Thrombocytopenia Chromosome Breakage"^^xsd:string) AnnotationAssertion( "thrombocytopenia, autosomal dominant"^^xsd:string) AnnotationAssertion( "thrombocytopenia, autosomal dominant, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003390"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hamano Tsukamoto Syndrome) AnnotationAssertion( "MESH:C535625"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003391"^^xsd:string) AnnotationAssertion(rdfs:label "Hamano Tsukamoto Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neck Pain) AnnotationAssertion(Annotation( "MESH:D019547"^^xsd:string) "Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck."^^xsd:string) AnnotationAssertion( "MESH:D019547"^^xsd:string) AnnotationAssertion( "Anterior Cervical Pain"^^xsd:string) AnnotationAssertion( "Anterior Cervical Pains"^^xsd:string) AnnotationAssertion( "Anterior Neck Pain"^^xsd:string) AnnotationAssertion( "Anterior Neck Pains"^^xsd:string) AnnotationAssertion( "Cervical Pain"^^xsd:string) AnnotationAssertion( "Cervical Pains"^^xsd:string) AnnotationAssertion( "Cervicalgia"^^xsd:string) AnnotationAssertion( "Cervicalgias"^^xsd:string) AnnotationAssertion( "Cervicodynia"^^xsd:string) AnnotationAssertion( "Cervicodynias"^^xsd:string) AnnotationAssertion( "Neck Ache"^^xsd:string) AnnotationAssertion( "Neck Aches"^^xsd:string) AnnotationAssertion( "Neck Pains"^^xsd:string) AnnotationAssertion( "Neckache"^^xsd:string) AnnotationAssertion( "Neckaches"^^xsd:string) AnnotationAssertion( "Posterior Cervical Pain"^^xsd:string) AnnotationAssertion( "Posterior Cervical Pains"^^xsd:string) AnnotationAssertion( "Posterior Neck Pain"^^xsd:string) AnnotationAssertion( "Posterior Neck Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003392"^^xsd:string) AnnotationAssertion(rdfs:label "Neck Pain"^^xsd:string) SubClassOf( ) # Class: (AIDS-Related Complex) AnnotationAssertion(Annotation( "MESH:D000386"^^xsd:string) "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS."^^xsd:string) AnnotationAssertion( "EFO:0007137"^^xsd:string) AnnotationAssertion( "MESH:D000386"^^xsd:string) AnnotationAssertion( "RDO:0004787"^^xsd:string) AnnotationAssertion( "ARC"^^xsd:string) AnnotationAssertion( "Lymphadenopathy Syndrome"^^xsd:string) AnnotationAssertion( "Lymphadenopathy Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003393"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS-Related Complex"^^xsd:string) SubClassOf( ) # Class: (Unerupted Tooth) AnnotationAssertion(Annotation( "MESH:D014097"^^xsd:string) "A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group."^^xsd:string) AnnotationAssertion( "MESH:D014097"^^xsd:string) AnnotationAssertion( "Unerupted Teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003394"^^xsd:string) AnnotationAssertion(rdfs:label "Unerupted Tooth"^^xsd:string) SubClassOf( ) # Class: (Type 2 Diabetes Mellitus 2) AnnotationAssertion( "MIM:601407"^^xsd:string) AnnotationAssertion( "MESH:C563323"^^xsd:string) AnnotationAssertion( "NIDDM2"^^xsd:string) AnnotationAssertion( "T2D2"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003395"^^xsd:string) AnnotationAssertion(rdfs:label "Type 2 Diabetes Mellitus 2"^^xsd:string) SubClassOf( ) # Class: (Multiple Noduli Cutanei with Urinary Tract Abnormalities) AnnotationAssertion( "MIM:163850"^^xsd:string) AnnotationAssertion( "MESH:C563512"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003396"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Noduli Cutanei with Urinary Tract Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Atrioventricular Septal Defect 5) AnnotationAssertion( "MIM:614474"^^xsd:string) AnnotationAssertion( "AVSD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003397"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect 5"^^xsd:string) SubClassOf( ) # Class: (Focal Facial Dermal Dysplasia 3) AnnotationAssertion( "MIM:227260"^^xsd:string) AnnotationAssertion( "Bitemporal forceps marks syndrome"^^xsd:string) AnnotationAssertion( "FFDD3"^^xsd:string) AnnotationAssertion( "Facial Ectodermal Dysplasia"^^xsd:string) AnnotationAssertion( "Focal Facial Dermal Dysplasia 3, Setleis Type"^^xsd:string) AnnotationAssertion( "Focal Facial Dermal Dysplasia, Type II"^^xsd:string) AnnotationAssertion( "Focal facial dermal dysplasia type 2"^^xsd:string) AnnotationAssertion( "Setleis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003398"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Facial Dermal Dysplasia 3"^^xsd:string) SubClassOf( ) # Class: (Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency) AnnotationAssertion( "MESH:C536837"^^xsd:string) AnnotationAssertion( "RDO:0002536"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003399"^^xsd:string) AnnotationAssertion(rdfs:label "Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Keratoactinomycosis) AnnotationAssertion( "MESH:C000598941"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003400"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoactinomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hardikar Syndrome) AnnotationAssertion( "MESH:C535632"^^xsd:string) AnnotationAssertion( "MIM:301068"^^xsd:string) AnnotationAssertion( "MONDO:0012997"^^xsd:string) AnnotationAssertion( "HDKR"^^xsd:string) AnnotationAssertion( "cholestasis-pigmentary retinopathy-cleft palate syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003401"^^xsd:string) AnnotationAssertion(rdfs:label "Hardikar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Macrosomia Obesity Macrocephaly Ocular Abnormalities) AnnotationAssertion( "MIM:157980"^^xsd:string) AnnotationAssertion( "MESH:C535812"^^xsd:string) AnnotationAssertion( "MOMO syndrome"^^xsd:string) AnnotationAssertion( "Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)"^^xsd:string) AnnotationAssertion( "Macrosomia, Obesity, Macrocephaly, And Ocular Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003402"^^xsd:string) AnnotationAssertion(rdfs:label "Macrosomia Obesity Macrocephaly Ocular Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arterio-Arterial Fistula) AnnotationAssertion(Annotation( "MESH:D001159"^^xsd:string) "Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality."^^xsd:string) AnnotationAssertion( "EFO:1001270"^^xsd:string) AnnotationAssertion( "MESH:D001159"^^xsd:string) AnnotationAssertion( "Arterio-Arterial Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003403"^^xsd:string) AnnotationAssertion(rdfs:label "Arterio-Arterial Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bornholm Eye Disease) AnnotationAssertion( "MIM:300843"^^xsd:string) AnnotationAssertion( "MESH:C564092"^^xsd:string) AnnotationAssertion( "BED"^^xsd:string) AnnotationAssertion( "MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003404"^^xsd:string) AnnotationAssertion(rdfs:label "Bornholm Eye Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Katsantoni Papadakou Lagoyanni Syndrome) AnnotationAssertion( "RDO:0002758"^^xsd:string) AnnotationAssertion( "MESH:C537012"^^xsd:string) AnnotationAssertion( "Trichodermal syndrome and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003405"^^xsd:string) AnnotationAssertion(rdfs:label "Katsantoni Papadakou Lagoyanni Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Hypoglossia) AnnotationAssertion( "RDO:0015615"^^xsd:string) AnnotationAssertion( "MESH:C567568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003406"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Hypoglossia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Prepubertal Familial Idiopathic Edema) AnnotationAssertion( "MIM:129840"^^xsd:string) AnnotationAssertion( "MESH:C565063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003408"^^xsd:string) AnnotationAssertion(rdfs:label "Prepubertal Familial Idiopathic Edema"^^xsd:string) SubClassOf( ) # Class: (Carotid-Cavernous Sinus Fistula) AnnotationAssertion(Annotation( "MESH:D020216"^^xsd:string) "An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION."^^xsd:string) AnnotationAssertion( "MESH:D020216"^^xsd:string) AnnotationAssertion( "C-C Fistula"^^xsd:string) AnnotationAssertion( "C-C Fistulas"^^xsd:string) AnnotationAssertion( "Carotid Artery Cavernous Sinus Fistula"^^xsd:string) AnnotationAssertion( "Carotid-Cavernous Sinus Fistulas"^^xsd:string) AnnotationAssertion( "Traumatic Carotid Cavernous Sinus Fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003409"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid-Cavernous Sinus Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Novelty Seeking Personality Trait) AnnotationAssertion( "MIM:601696"^^xsd:string) AnnotationAssertion( "RISK-TAKING BEHAVIOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003410"^^xsd:string) AnnotationAssertion(rdfs:label "Novelty Seeking Personality Trait"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2) AnnotationAssertion( "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects.(OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617661"^^xsd:string) AnnotationAssertion( "KYNURENINASE DEFICIENCY, COMPLETE"^^xsd:string) AnnotationAssertion( "VCRL2"^^xsd:string) AnnotationAssertion( "congenital NAD deficiency disorder 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003412"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Corynebacterium Infections) AnnotationAssertion(Annotation( "MESH:D003354"^^xsd:string) "Infections with bacteria of the genus CORYNEBACTERIUM."^^xsd:string) AnnotationAssertion( "MESH:D003354"^^xsd:string) AnnotationAssertion( "RDO:0005284"^^xsd:string) AnnotationAssertion( "Corynebacterium Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003413"^^xsd:string) AnnotationAssertion(rdfs:label "Corynebacterium Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Keratoconus 9) AnnotationAssertion( "A degenerative corneal disease with onset during adolescence, characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (OMIM)."^^xsd:string) AnnotationAssertion( "MIM:617928"^^xsd:string) AnnotationAssertion( "KTCN9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003415"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 9"^^xsd:string) SubClassOf( ) # Class: (Post-Head Injury Coma) AnnotationAssertion(Annotation( "MESH:D020207"^^xsd:string) "Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)"^^xsd:string) AnnotationAssertion( "MESH:D020207"^^xsd:string) AnnotationAssertion( "Coma, Post-Traumatic, Prolonged"^^xsd:string) AnnotationAssertion( "Post-Concussive Coma"^^xsd:string) AnnotationAssertion( "Post-Concussive Comas"^^xsd:string) AnnotationAssertion( "Post-Head Injury Comas"^^xsd:string) AnnotationAssertion( "Post-Trauma Coma"^^xsd:string) AnnotationAssertion( "Post-Trauma Comas"^^xsd:string) AnnotationAssertion( "Post-Traumatic Coma"^^xsd:string) AnnotationAssertion( "Traumatic Coma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003416"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Head Injury Coma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Menorrhagia) AnnotationAssertion(Annotation( "MESH:D008595"^^xsd:string) "Excessive uterine bleeding during MENSTRUATION."^^xsd:string) AnnotationAssertion( "EFO:0003945"^^xsd:string) AnnotationAssertion( "MESH:D008595"^^xsd:string) AnnotationAssertion( "Hypermenorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003417"^^xsd:string) AnnotationAssertion(rdfs:label "Menorrhagia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lightning Injuries) AnnotationAssertion(Annotation( "MESH:D015168"^^xsd:string) "Accidental injuries caused by brief high-voltage electrical discharges during thunderstorms. Cardiopulmonary arrest, coma and other neurologic symptoms, myocardial necrosis, and dermal burns are common. Prompt treatment of the acute sequelae, including cardiopulmonary resuscitation, is indicated for survival."^^xsd:string) AnnotationAssertion( "MESH:D015168"^^xsd:string) AnnotationAssertion( "RDO:0006847"^^xsd:string) AnnotationAssertion( "Lightning Injury"^^xsd:string) AnnotationAssertion( "Lightning Stroke"^^xsd:string) AnnotationAssertion( "Lightning Strokes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003418"^^xsd:string) AnnotationAssertion(rdfs:label "Lightning Injuries"^^xsd:string) SubClassOf( ) # Class: (Childhood-Onset Fluency Disorder) AnnotationAssertion(Annotation( "MESH:D000067454"^^xsd:string) "Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individual's age and language skills. (DSM-V)"^^xsd:string) AnnotationAssertion( "MESH:D000067454"^^xsd:string) AnnotationAssertion( "RDO:0016028"^^xsd:string) AnnotationAssertion( "Childhood-Onset Fluency Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003419"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-Onset Fluency Disorder"^^xsd:string) SubClassOf( ) # Class: (Carbon Monoxide Poisoning) AnnotationAssertion(Annotation( "MESH:D002249"^^xsd:string) "Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide."^^xsd:string) AnnotationAssertion( "MESH:D002249"^^xsd:string) AnnotationAssertion( "RDO:0005106"^^xsd:string) AnnotationAssertion( "Carbon Monoxide Poisonings"^^xsd:string) AnnotationAssertion( "Illuminating Gas Poisoning"^^xsd:string) AnnotationAssertion( "Illuminating Gas Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003420"^^xsd:string) AnnotationAssertion(rdfs:label "Carbon Monoxide Poisoning"^^xsd:string) SubClassOf( ) # Class: (Labor Pain) AnnotationAssertion(Annotation( "MESH:D048949"^^xsd:string) "Pain associated with OBSTETRIC LABOR in CHILDBIRTH. It is caused primarily by UTERINE CONTRACTION as well as pressure on the CERVIX; BLADDER; and the GASTROINTESTINAL TRACT. Labor pain mostly occurs in the ABDOMEN; the GROIN; and the BACK."^^xsd:string) AnnotationAssertion( "MESH:D048949"^^xsd:string) AnnotationAssertion( "Obstetric Pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003421"^^xsd:string) AnnotationAssertion(rdfs:label "Labor Pain"^^xsd:string) SubClassOf( ) # Class: (Thyroid Cancer, Nonmedullary, 4) AnnotationAssertion( "MIM:616534"^^xsd:string) AnnotationAssertion( "NMTC4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003422"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Cancer, Nonmedullary, 4"^^xsd:string) SubClassOf( ) # Class: (Upton Young Syndrome) AnnotationAssertion( "MESH:C536473"^^xsd:string) AnnotationAssertion( "RDO:0002066"^^xsd:string) AnnotationAssertion( "Mental retardation and multiple nevi"^^xsd:string) AnnotationAssertion( "Severe developmental delay and multiple strawberry naevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003423"^^xsd:string) AnnotationAssertion(rdfs:label "Upton Young Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Opioid-Induced Constipation) AnnotationAssertion(Annotation( "MESH:D000079689"^^xsd:string) "CONSTIPATION associated with the use of OPIOIDS."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-06T18:44:18Z"^^xsd:string) AnnotationAssertion( "MESH:D000079689"^^xsd:string) AnnotationAssertion( "Narcotic Bowel Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003424"^^xsd:string) AnnotationAssertion(rdfs:label "Opioid-Induced Constipation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS) AnnotationAssertion(Annotation( "MIM:619194"^^xsd:string) "A disease characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-03-15T13:52:31Z"^^xsd:string) AnnotationAssertion( "MIM:619194"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS"^^xsd:string) AnnotationAssertion( "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS"^^xsd:string) AnnotationAssertion( "NFSRA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003425"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glycosuria) AnnotationAssertion(Annotation( "MESH:D006029"^^xsd:string) "The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA)."^^xsd:string) AnnotationAssertion( "MESH:D006029"^^xsd:string) AnnotationAssertion( "glucosuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003426"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Periprosthetic Fractures) AnnotationAssertion(Annotation( "MESH:D057068"^^xsd:string) "Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively."^^xsd:string) AnnotationAssertion( "EFO:1001823"^^xsd:string) AnnotationAssertion( "MESH:D057068"^^xsd:string) AnnotationAssertion( "Peri Implant Fractures"^^xsd:string) AnnotationAssertion( "Peri-Implant Fracture"^^xsd:string) AnnotationAssertion( "Periprosthetic Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003427"^^xsd:string) AnnotationAssertion(rdfs:label "Periprosthetic Fractures"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques) AnnotationAssertion( "MIM:125320"^^xsd:string) AnnotationAssertion( "MESH:C565115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003429"^^xsd:string) AnnotationAssertion(rdfs:label "Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sprengel Deformity) AnnotationAssertion( "MIM:184400"^^xsd:string) AnnotationAssertion( "MESH:C535802"^^xsd:string) AnnotationAssertion( "High scapula"^^xsd:string) AnnotationAssertion( "Maladie de Sprengel familiale"^^xsd:string) AnnotationAssertion( "Sprengel's shoulder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003430"^^xsd:string) AnnotationAssertion(rdfs:label "Sprengel Deformity"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 5A, Intermediate) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:35:29Z"^^xsd:string) AnnotationAssertion( "ITGB4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619816"^^xsd:string) AnnotationAssertion( "JEB5A"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 5A, Generalized Intermediate"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 5A, Intermediate"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 5A, Non-Herlitz Type"^^xsd:string) AnnotationAssertion( "intermediate junctional epidermolysis bullosa 5A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003431"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 5A, Intermediate"^^xsd:string) SubClassOf( ) # Class: (Calloso-Genital Dysplasia) AnnotationAssertion( "GARD:1055"^^xsd:string) AnnotationAssertion( "MESH:C537962"^^xsd:string) AnnotationAssertion( "Primary amenorrhoea with coloboma and total agenesis of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003432"^^xsd:string) AnnotationAssertion(rdfs:label "Calloso-Genital Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemifacial Hyperplasia with Strabismus) AnnotationAssertion( "MIM:141350"^^xsd:string) AnnotationAssertion( "MESH:C564199"^^xsd:string) AnnotationAssertion( "Bencze Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003433"^^xsd:string) AnnotationAssertion(rdfs:label "Hemifacial Hyperplasia with Strabismus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation with Defective Fucosylation 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T12:14:04Z"^^xsd:string) AnnotationAssertion( "MIM:618005"^^xsd:string) AnnotationAssertion( "CDGF1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003434"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation with Defective Fucosylation 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CRYPTOZOOSPERMIA) AnnotationAssertion( "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made and azoospermia can be ruled out."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-09T12:48:55Z"^^xsd:string) AnnotationAssertion( "Cryptospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003436"^^xsd:string) AnnotationAssertion(rdfs:label "CRYPTOZOOSPERMIA"^^xsd:string) SubClassOf( ) # Class: (Tibia Absent Polydactyly Arachnoid Cyst) AnnotationAssertion( "MESH:C536918"^^xsd:string) AnnotationAssertion( "RDO:0002643"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003437"^^xsd:string) AnnotationAssertion(rdfs:label "Tibia Absent Polydactyly Arachnoid Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Branchial Cleft Anomalies) AnnotationAssertion( "MIM:113600"^^xsd:string) AnnotationAssertion( "MESH:C562384"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003438"^^xsd:string) AnnotationAssertion(rdfs:label "Branchial Cleft Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Osteophytosis) AnnotationAssertion(Annotation( "MESH:D013128"^^xsd:string) "Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001846"^^xsd:string) AnnotationAssertion( "MESH:D013128"^^xsd:string) AnnotationAssertion( "RDO:0005367"^^xsd:string) AnnotationAssertion( "Spinal Osteophytoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003439"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Osteophytosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nephrotic Syndrome Type 24) AnnotationAssertion( "An autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Caused by homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T13:26:31Z"^^xsd:string) AnnotationAssertion( "MIM:619263"^^xsd:string) AnnotationAssertion( "DAAM2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NPHS24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003441"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrotic Syndrome Type 24"^^xsd:string) SubClassOf( ) # Class: (Konigsmark Knox Hussels Syndrome) AnnotationAssertion( "MESH:C537214"^^xsd:string) AnnotationAssertion( "RDO:0003004"^^xsd:string) AnnotationAssertion( "Deafness optic atrophy syndrome"^^xsd:string) AnnotationAssertion( "Dominant congenital deafness and progressive optic nerve atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003442"^^xsd:string) AnnotationAssertion(rdfs:label "Konigsmark Knox Hussels Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Central Nervous System Vascular Malformations) AnnotationAssertion(Annotation( "MESH:D020785"^^xsd:string) "Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES."^^xsd:string) AnnotationAssertion( "MESH:D020785"^^xsd:string) AnnotationAssertion( "RDO:0005161"^^xsd:string) AnnotationAssertion( "Brain Capillary Telangiectasia"^^xsd:string) AnnotationAssertion( "Brain Capillary Telangiectasias"^^xsd:string) AnnotationAssertion( "Brain Vascular Malformation"^^xsd:string) AnnotationAssertion( "Brain Vascular Malformations"^^xsd:string) AnnotationAssertion( "Central Nervous System Congenital Vascular Malformations"^^xsd:string) AnnotationAssertion( "Central Nervous System Vascular Anomalies"^^xsd:string) AnnotationAssertion( "Congenital Vascular Malformations, Central Nevous System"^^xsd:string) AnnotationAssertion( "Dural Arteriovenous Fistula"^^xsd:string) AnnotationAssertion( "Dural Arteriovenous Fistulas"^^xsd:string) AnnotationAssertion( "Persistent Cerebral Embryonic Artery"^^xsd:string) AnnotationAssertion( "Pontine Capillary Telangiectasia"^^xsd:string) AnnotationAssertion( "Pontine Capillary Telangiectasias"^^xsd:string) AnnotationAssertion( "Vascular Malformations, Congenital, Nervous System"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003443"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Vascular Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Homozygous 11p15-p14 Deletion Syndrome) AnnotationAssertion( "MIM:606528"^^xsd:string) AnnotationAssertion( "MESH:C564701"^^xsd:string) AnnotationAssertion( "infantile hyperinsulinism with enteropathy and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003446"^^xsd:string) AnnotationAssertion(rdfs:label "Homozygous 11p15-p14 Deletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oxyurida Infections) AnnotationAssertion(Annotation( "MESH:D017194"^^xsd:string) "Infections with nematodes of the order OXYURIDA."^^xsd:string) AnnotationAssertion( "MESH:D017194"^^xsd:string) AnnotationAssertion( "Oxyurida Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003447"^^xsd:string) AnnotationAssertion(rdfs:label "Oxyurida Infections"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA) AnnotationAssertion(Annotation( "MIM:619286"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-14T10:59:32Z"^^xsd:string) AnnotationAssertion( "MIM:619286"^^xsd:string) AnnotationAssertion( "NEDSCAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003448"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deafness, Congenital Onychodystrophy, Recessive Form) AnnotationAssertion( "MESH:C538204"^^xsd:string) AnnotationAssertion( "RDO:0004147"^^xsd:string) AnnotationAssertion( "Deafness, Onycho-Osteodystrophy, mental Retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003449"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Congenital Onychodystrophy, Recessive Form"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nonprogressive Heart Block) AnnotationAssertion( "RDO:0014620"^^xsd:string) AnnotationAssertion( "MESH:C566185"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003450"^^xsd:string) AnnotationAssertion(rdfs:label "Nonprogressive Heart Block"^^xsd:string) SubClassOf( ) # Class: (Multiple mitochondrial dysfunctions syndrome 9A) AnnotationAssertion( "An autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617717"^^xsd:string) AnnotationAssertion( "MONDO:0060582"^^xsd:string) AnnotationAssertion( "ANOA"^^xsd:string) AnnotationAssertion( "Auditory neuropathy and optic atrophy"^^xsd:string) AnnotationAssertion( "FDXR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MMDS9A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003451"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple mitochondrial dysfunctions syndrome 9A"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 9) AnnotationAssertion( "MESH:C567031"^^xsd:string) AnnotationAssertion( "MIM:610997"^^xsd:string) AnnotationAssertion( "MONDO:0012597"^^xsd:string) AnnotationAssertion( "HPC9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003452"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 9"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive) AnnotationAssertion( "RDO:0015645"^^xsd:string) AnnotationAssertion( "MESH:C567608"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003453"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Scholte Syndrome) AnnotationAssertion( "MIM:300977"^^xsd:string) AnnotationAssertion( "MESH:C536638"^^xsd:string) AnnotationAssertion( "Early balding, patella luxation, acromicria and hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003454"^^xsd:string) AnnotationAssertion(rdfs:label "Scholte Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Teebi Shaltout Syndrome) AnnotationAssertion( "MIM:272950"^^xsd:string) AnnotationAssertion( "MESH:C536950"^^xsd:string) AnnotationAssertion( "Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003455"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi Shaltout Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein) AnnotationAssertion( "MESH:C564817"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003456"^^xsd:string) AnnotationAssertion(rdfs:label "Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Odontochondrodysplasia 1) AnnotationAssertion( "MIM:184260"^^xsd:string) AnnotationAssertion( "MESH:C535792"^^xsd:string) AnnotationAssertion( "Goldblatt syndrome"^^xsd:string) AnnotationAssertion( "ODCD1"^^xsd:string) AnnotationAssertion( "spondylometaphyseal dysplasia with dentinogenesis imperfecta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003459"^^xsd:string) AnnotationAssertion(rdfs:label "Odontochondrodysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Fraser-Like Syndrome) AnnotationAssertion( "MIM:229230"^^xsd:string) AnnotationAssertion( "MESH:C565562"^^xsd:string) AnnotationAssertion( "fused eyelids, airway anomalies, ovarian cysts, and digital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003460"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser-Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mirror Movements 2) AnnotationAssertion( "RDO:9000515"^^xsd:string) AnnotationAssertion( "MIM:614508"^^xsd:string) AnnotationAssertion( "MRMV2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003461"^^xsd:string) AnnotationAssertion(rdfs:label "Mirror Movements 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 2, Trisomy 2p) AnnotationAssertion( "MESH:C538318"^^xsd:string) AnnotationAssertion( "RDO:0004280"^^xsd:string) AnnotationAssertion( "Duplication 2p"^^xsd:string) AnnotationAssertion( "Trisomy 2p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003462"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Trisomy 2p"^^xsd:string) SubClassOf( ) # Class: (Gingival Fibromatosis 2) AnnotationAssertion( "MIM:605544"^^xsd:string) AnnotationAssertion( "MESH:C565323"^^xsd:string) AnnotationAssertion( "Fibromatosis, Gingival, Hereditary, 2"^^xsd:string) AnnotationAssertion( "GGF2"^^xsd:string) AnnotationAssertion( "GINGF2"^^xsd:string) AnnotationAssertion( "HGF2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003463"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Dysfibrinogenemia) AnnotationAssertion(Annotation( "MESH:C562727"^^xsd:string) "A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both."^^xsd:string) AnnotationAssertion( "MIM:616004"^^xsd:string) AnnotationAssertion( "DYSFIBRINOGENEMIA"^^xsd:string) AnnotationAssertion( "MESH:C562727"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FIBRINOGEN AARHUS 1"^^xsd:string) AnnotationAssertion( "FIBRINOGEN ASAHI"^^xsd:string) AnnotationAssertion( "FIBRINOGEN BALTIMORE 3"^^xsd:string) AnnotationAssertion( "FIBRINOGEN BALTIMORE 4"^^xsd:string) AnnotationAssertion( "FIBRINOGEN BERGAMO 2"^^xsd:string) AnnotationAssertion( "FIBRINOGEN CARACAS 2"^^xsd:string) AnnotationAssertion( "FIBRINOGEN CARACAS II"^^xsd:string) AnnotationAssertion( "FIBRINOGEN PETOSKEY"^^xsd:string) AnnotationAssertion( "DOID:9003464"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Dysfibrinogenemia"^^xsd:string) SubClassOf( ) # Class: (Daneman Davy Mancer Syndrome) AnnotationAssertion( "MIM:138790"^^xsd:string) AnnotationAssertion( "MESH:C535986"^^xsd:string) AnnotationAssertion( "Multinodular Goiter-Cystic Renal Disease-Digital Anomalies"^^xsd:string) AnnotationAssertion( "Multinodular goiter, cystic renal disease, and digital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003465"^^xsd:string) AnnotationAssertion(rdfs:label "Daneman Davy Mancer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardiomyopathy Hypogonadism Collagenoma Syndrome) AnnotationAssertion( "MESH:C535582"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003466"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiomyopathy Hypogonadism Collagenoma Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retinitis Pigmentosa 92) AnnotationAssertion(Annotation( "MIM:619614"^^xsd:string) "Characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Caused by homozygous mutation in the HKDC1 gene on chromosome 10q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-15T12:28:12Z"^^xsd:string) AnnotationAssertion( "MIM:619614"^^xsd:string) AnnotationAssertion( "RP92"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003467"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 92"^^xsd:string) SubClassOf( ) # Class: (Apolipoprotein E, Deficiency or Defect of) AnnotationAssertion( "RDO:0014662"^^xsd:string) AnnotationAssertion( "MESH:C566260"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003468"^^xsd:string) AnnotationAssertion(rdfs:label "Apolipoprotein E, Deficiency or Defect of"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis and Male Hypogonadism) AnnotationAssertion( "MIM:308200"^^xsd:string) AnnotationAssertion( "MESH:C537365"^^xsd:string) AnnotationAssertion( "Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation"^^xsd:string) AnnotationAssertion( "RUD SYNDROME"^^xsd:string) AnnotationAssertion( "RUDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003469"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis and Male Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Picornaviridae Infections) AnnotationAssertion(Annotation( "MESH:D010850"^^xsd:string) "Virus diseases caused by the PICORNAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007438"^^xsd:string) AnnotationAssertion( "MESH:D010850"^^xsd:string) AnnotationAssertion( "Picornaviridae Infection"^^xsd:string) AnnotationAssertion( "Picornavirus Infection"^^xsd:string) AnnotationAssertion( "Picornavirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003470"^^xsd:string) AnnotationAssertion(rdfs:label "Picornaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3) AnnotationAssertion( "MIM:608033"^^xsd:string) AnnotationAssertion( "ANE"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "IIAE3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003471"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3"^^xsd:string) SubClassOf( ) # Class: (Defect of Tricarboxylic Acid Cycle) AnnotationAssertion( "MIM:275370"^^xsd:string) AnnotationAssertion( "MESH:C564762"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003472"^^xsd:string) AnnotationAssertion(rdfs:label "Defect of Tricarboxylic Acid Cycle"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypercholanemia 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T11:54:41Z"^^xsd:string) AnnotationAssertion( "MIM:619256"^^xsd:string) AnnotationAssertion( "FHCA2"^^xsd:string) AnnotationAssertion( "NTCP deficiency"^^xsd:string) AnnotationAssertion( "SLC10A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003473"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypercholanemia 2"^^xsd:string) SubClassOf( ) # Class: (Aniridia and Absent Patella) AnnotationAssertion( "MIM:106220"^^xsd:string) AnnotationAssertion( "MESH:C566281"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003474"^^xsd:string) AnnotationAssertion(rdfs:label "Aniridia and Absent Patella"^^xsd:string) SubClassOf( ) # Class: (Hypocalciuric Hypercalcemia, Acquired) AnnotationAssertion( "RDO:0013202"^^xsd:string) AnnotationAssertion( "MESH:C564151"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003475"^^xsd:string) AnnotationAssertion(rdfs:label "Hypocalciuric Hypercalcemia, Acquired"^^xsd:string) SubClassOf( ) # Class: (Radiation-Induced Abnormalities) AnnotationAssertion(Annotation( "MESH:D000016"^^xsd:string) "Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation."^^xsd:string) AnnotationAssertion( "MESH:D000016"^^xsd:string) AnnotationAssertion( "Radiation-Induced Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003476"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation-Induced Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kleeblattschaedel Syndrome) AnnotationAssertion( "MIM:148800"^^xsd:string) AnnotationAssertion( "MESH:C536884"^^xsd:string) AnnotationAssertion( "Cloverleaf skull syndrome"^^xsd:string) AnnotationAssertion( "Kleeblattschaedel-deformity syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003477"^^xsd:string) AnnotationAssertion(rdfs:label "Kleeblattschaedel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A) AnnotationAssertion( "MIM:156310"^^xsd:string) AnnotationAssertion( "MESH:C563587"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003478"^^xsd:string) AnnotationAssertion(rdfs:label "Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A"^^xsd:string) SubClassOf( ) # Class: (Proportionate Dwarfism with Hip Dislocation) AnnotationAssertion( "MIM:223550"^^xsd:string) AnnotationAssertion( "MESH:C565614"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003479"^^xsd:string) AnnotationAssertion(rdfs:label "Proportionate Dwarfism with Hip Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia, Ataxia, and Mental Retardation) AnnotationAssertion( "MIM:607565"^^xsd:string) AnnotationAssertion( "MESH:C564378"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003480"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia, Ataxia, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Inhalant Abuse) AnnotationAssertion(Annotation( "MESH:D058545"^^xsd:string) "Illicit use of chemicals and products whose vapors can be inhaled to produce a rapid mind-altering effect. Inhalants include aerosols, gases, and volatile solvents that are often inhaled repeatedly to achieve the short-lived intoxicating effect."^^xsd:string) AnnotationAssertion( "MESH:D058545"^^xsd:string) AnnotationAssertion( "Glue Abuse"^^xsd:string) AnnotationAssertion( "Glue Abuses"^^xsd:string) AnnotationAssertion( "Glue Sniffing"^^xsd:string) AnnotationAssertion( "Glue Sniffings"^^xsd:string) AnnotationAssertion( "Inhalant Abuses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003481"^^xsd:string) AnnotationAssertion(rdfs:label "Inhalant Abuse"^^xsd:string) SubClassOf( ) # Class: (Seckel Syndrome 3) AnnotationAssertion( "MESH:C563881"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003482"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel Syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Conductive Hearing Loss) AnnotationAssertion(Annotation( "MESH:D006314"^^xsd:string) "Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES."^^xsd:string) AnnotationAssertion( "RDO:0000754"^^xsd:string) AnnotationAssertion( "MESH:D006314"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003483"^^xsd:string) AnnotationAssertion(rdfs:label "Conductive Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (Atrial Tachycardia) AnnotationAssertion(Annotation( "NCI:C35481"^^xsd:string) "This disorder is characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-29T16:17:24Z"^^xsd:string) AnnotationAssertion( "EFO:0005308"^^xsd:string) AnnotationAssertion( "ICD9:427.89"^^xsd:string) AnnotationAssertion( "MONDO:0005479"^^xsd:string) AnnotationAssertion( "NCI:C35481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003484"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Tachycardia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Breastfeeding Jaundice) AnnotationAssertion( "MESH:C565501"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003487"^^xsd:string) AnnotationAssertion(rdfs:label "Breastfeeding Jaundice"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A1) AnnotationAssertion( "MIM:174200"^^xsd:string) AnnotationAssertion( "RDO:0012159"^^xsd:string) AnnotationAssertion( "MESH:C562429"^^xsd:string) AnnotationAssertion( "GLI3-RELATED POSTAXIAL POLYDACTYLY"^^xsd:string) AnnotationAssertion( "PAPA"^^xsd:string) AnnotationAssertion( "PAPA1"^^xsd:string) AnnotationAssertion( "Postaxial Polydactyly B"^^xsd:string) AnnotationAssertion( "Postaxial Polydactyly, Type A"^^xsd:string) AnnotationAssertion( "Postaxial Polydactyly, Type A1/B"^^xsd:string) AnnotationAssertion( "Postaxial Polydactyly, Type B"^^xsd:string) AnnotationAssertion( "PAPB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003488"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A1"^^xsd:string) SubClassOf( ) # Class: (Blepharophimosis Syndrome Type 1) AnnotationAssertion( "MESH:C536233"^^xsd:string) AnnotationAssertion( "BPES with ovarian failure"^^xsd:string) AnnotationAssertion( "BPES, type I"^^xsd:string) AnnotationAssertion( "BPES, type I, autosomal recessive"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus type I"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus type I, autosomal recessive"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, epicanthus inversus type 1"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, epicanthus inversus with ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003489"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharophimosis Syndrome Type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 22, Autosomal Dominant) AnnotationAssertion( "MIM:615420"^^xsd:string) AnnotationAssertion( "RDO:9000944"^^xsd:string) AnnotationAssertion( "MYP22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003490"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 22, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Enterobacteriaceae Infections) AnnotationAssertion(Annotation( "MESH:D004756"^^xsd:string) "Infections with bacteria of the family ENTEROBACTERIACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001313"^^xsd:string) AnnotationAssertion( "MESH:D004756"^^xsd:string) AnnotationAssertion( "Enterobacteriaceae Infection"^^xsd:string) AnnotationAssertion( "Enterobacterial Infection"^^xsd:string) AnnotationAssertion( "Enterobacterial Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003491"^^xsd:string) AnnotationAssertion(rdfs:label "Enterobacteriaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 12) AnnotationAssertion(Annotation( "MIM:619697"^^xsd:string) "Characterized by female infertility due to early embryonic arrest. Caused by homozygous mutation in the FBXO43 gene on chromosome 8q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-07T11:41:18Z"^^xsd:string) AnnotationAssertion( "MIM:619697"^^xsd:string) AnnotationAssertion( "OOMD12"^^xsd:string) AnnotationAssertion( "OZEMA12"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003492"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 12"^^xsd:string) SubClassOf( ) # Class: (primary pulmonary hypertension 2) AnnotationAssertion( "MIM:615342"^^xsd:string) AnnotationAssertion( "PPH2"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003493"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 2"^^xsd:string) SubClassOf( ) # Class: (Uniparental Disomy of 13) AnnotationAssertion( "MESH:C536469"^^xsd:string) AnnotationAssertion( "Maternal uniparental disomy of chromosome 13"^^xsd:string) AnnotationAssertion( "Paternal uniparental disomy 13"^^xsd:string) AnnotationAssertion( "Paternal uniparental disomy of chromosome 13"^^xsd:string) AnnotationAssertion( "Uniparental disomy of chromosome 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003494"^^xsd:string) AnnotationAssertion(rdfs:label "Uniparental Disomy of 13"^^xsd:string) SubClassOf( ) # Class: (Diaper Rash) AnnotationAssertion(Annotation( "MESH:D003963"^^xsd:string) "A type of irritant dermatitis localized to the area in contact with a diaper and occurring most often as a reaction to prolonged contact with urine, feces, or retained soap or detergent."^^xsd:string) AnnotationAssertion( "MESH:D003963"^^xsd:string) AnnotationAssertion( "Diaper Rashes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003495"^^xsd:string) AnnotationAssertion(rdfs:label "Diaper Rash"^^xsd:string) SubClassOf( ) # Class: (Diabetic Coma) AnnotationAssertion(Annotation( "MESH:D003926"^^xsd:string) "A state of unconsciousness as a complication of diabetes mellitus. It occurs in cases of extreme HYPERGLYCEMIA or extreme HYPOGLYCEMIA as a complication of INSULIN therapy."^^xsd:string) AnnotationAssertion( "MESH:D003926"^^xsd:string) AnnotationAssertion( "Diabetic Comas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003496"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Coma"^^xsd:string) SubClassOf( ) # Class: (Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-16T09:51:57Z"^^xsd:string) AnnotationAssertion( "MYRF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618113"^^xsd:string) AnnotationAssertion( "MERS"^^xsd:string) AnnotationAssertion( "MMERV"^^xsd:string) AnnotationAssertion( "mild encephalitis/encephalopathy with reversible splenial lesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003497"^^xsd:string) AnnotationAssertion(rdfs:label "Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization"^^xsd:string) SubClassOf( ) # Class: (Prader-Willi-Like Syndrome Associated with Chromosome 6) AnnotationAssertion( "MESH:C566764"^^xsd:string) AnnotationAssertion( "RDO:0015021"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003498"^^xsd:string) AnnotationAssertion(rdfs:label "Prader-Willi-Like Syndrome Associated with Chromosome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES) AnnotationAssertion(Annotation( "MIM:619557"^^xsd:string) "This disease is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-13T14:28:06Z"^^xsd:string) AnnotationAssertion( "MIM:619557"^^xsd:string) AnnotationAssertion( "SIMHA"^^xsd:string) AnnotationAssertion( "SIMHA SYNDROME"^^xsd:string) AnnotationAssertion( "ZNF407-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003499"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Antecubital Pterygium) AnnotationAssertion( "MIM:178200"^^xsd:string) AnnotationAssertion( "MESH:C566738"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003502"^^xsd:string) AnnotationAssertion(rdfs:label "Antecubital Pterygium"^^xsd:string) SubClassOf( ) # Class: (Penis Agenesis) AnnotationAssertion( "MESH:C536649"^^xsd:string) AnnotationAssertion( "Agenesis of the penis"^^xsd:string) AnnotationAssertion( "Micropenis"^^xsd:string) AnnotationAssertion( "Penis agenesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003503"^^xsd:string) AnnotationAssertion(rdfs:label "Penis Agenesis"^^xsd:string) SubClassOf( ) # Class: (Dentin Dysplasia, Type 1) AnnotationAssertion( "DOID:9003147"^^xsd:string) AnnotationAssertion( "MESH:C538215"^^xsd:string) AnnotationAssertion( "MESH:C564144"^^xsd:string) AnnotationAssertion( "MIM:125400"^^xsd:string) AnnotationAssertion( "MONDO:0007436"^^xsd:string) AnnotationAssertion( "DENTIN DYSPLASIA, SHIELDS TYPE I"^^xsd:string) AnnotationAssertion( "DTDP1"^^xsd:string) AnnotationAssertion( "Dentin Dysplasia, Type I"^^xsd:string) AnnotationAssertion( "Hypoplasia of Teeth Roots"^^xsd:string) AnnotationAssertion( "dentin dysplasia type I, with extreme microdontia and misshapen teeth"^^xsd:string) AnnotationAssertion( "radicular dentin dysplasia"^^xsd:string) AnnotationAssertion( "rootless teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003504"^^xsd:string) AnnotationAssertion(rdfs:label "Dentin Dysplasia, Type 1"^^xsd:string) SubClassOf( ) # Class: (Venous Thromboembolism) AnnotationAssertion(Annotation( "MESH:D054556"^^xsd:string) "Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream."^^xsd:string) AnnotationAssertion( "EFO:0004286"^^xsd:string) AnnotationAssertion( "MESH:D054556"^^xsd:string) AnnotationAssertion( "VTE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "Venous thromboembolism, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9003505"^^xsd:string) AnnotationAssertion(rdfs:label "Venous Thromboembolism"^^xsd:string) SubClassOf( ) # Class: (Cholera Morbus) AnnotationAssertion(Annotation( "MESH:D017688"^^xsd:string) "An old term that is no longer used in the scientific literature. Cholera morbus refers to acute GASTROENTERITIS occurring in summer or autumn; characterized by severe cramps, diarrhea, and vomiting."^^xsd:string) AnnotationAssertion( "RDO:0007068"^^xsd:string) AnnotationAssertion( "MESH:D017688"^^xsd:string) AnnotationAssertion( "summer cholera"^^xsd:string) AnnotationAssertion( "summer choleras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003506"^^xsd:string) AnnotationAssertion(rdfs:label "Cholera Morbus"^^xsd:string) SubClassOf( ) # Class: (Premature Birth) AnnotationAssertion(Annotation( "MESH:D047928"^^xsd:string) "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)."^^xsd:string) AnnotationAssertion( "EFO:0003917"^^xsd:string) AnnotationAssertion( "EFO:0006917"^^xsd:string) AnnotationAssertion( "MESH:D047928"^^xsd:string) AnnotationAssertion( "Premature Births"^^xsd:string) AnnotationAssertion( "Preterm Birth"^^xsd:string) AnnotationAssertion( "Preterm Births"^^xsd:string) AnnotationAssertion( "spontaneous preterm birth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003507"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Birth"^^xsd:string) SubClassOf( ) # Class: (Iris Pigment Epithelium Anomalies) AnnotationAssertion( "MIM:601616"^^xsd:string) AnnotationAssertion( "MESH:C566651"^^xsd:string) AnnotationAssertion( "Cysts of Iris Pigment Epithelium"^^xsd:string) AnnotationAssertion( "Ruffles and Cysts of Iris Pigment Epithelium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003508"^^xsd:string) AnnotationAssertion(rdfs:label "Iris Pigment Epithelium Anomalies"^^xsd:string) SubClassOf( ) # Class: (External Ophthalmoplegia and Myopia) AnnotationAssertion( "MIM:311000"^^xsd:string) AnnotationAssertion( "RDO:0013162"^^xsd:string) AnnotationAssertion( "MESH:C564087"^^xsd:string) AnnotationAssertion( "Myopia-Ophthalmoplegia Syndrome"^^xsd:string) AnnotationAssertion( "OPEM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003509"^^xsd:string) AnnotationAssertion(rdfs:label "External Ophthalmoplegia and Myopia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mandibular Nerve Injuries) AnnotationAssertion( "Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of mandibular nerve is LINGUAL NERVE INJURIES. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T17:44:03Z"^^xsd:string) AnnotationAssertion( "MESH:D000080902"^^xsd:string) AnnotationAssertion( "Auriculotemporal Nerve Injuries"^^xsd:string) AnnotationAssertion( "Auriculotemporal Nerve Injury"^^xsd:string) AnnotationAssertion( "Buccal Nerve Injuries"^^xsd:string) AnnotationAssertion( "Buccal Nerve Injury"^^xsd:string) AnnotationAssertion( "Deep Temporal Nerve Injuries"^^xsd:string) AnnotationAssertion( "Deep Temporal Nerve Injury"^^xsd:string) AnnotationAssertion( "Inferior Alveolar Nerve Injuries"^^xsd:string) AnnotationAssertion( "Inferior Alveolar Nerve Injury"^^xsd:string) AnnotationAssertion( "Lateral Pterygoid Nerve Injuries"^^xsd:string) AnnotationAssertion( "Lateral Pterygoid Nerve Injury"^^xsd:string) AnnotationAssertion( "Masseteric Nerve Injuries"^^xsd:string) AnnotationAssertion( "Masseteric Nerve Injury"^^xsd:string) AnnotationAssertion( "Mental Nerve Injuries"^^xsd:string) AnnotationAssertion( "Mental Nerve Injury"^^xsd:string) AnnotationAssertion( "mandibular nerve Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003510"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Nerve Injuries"^^xsd:string) SubClassOf( ) # Class: (ischemic cardiomyopathy) AnnotationAssertion(Annotation( "EFO:0001425"^^xsd:string) "This disease is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-09T15:45:41Z"^^xsd:string) AnnotationAssertion( "EFO:0001425"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003511"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopia 10) AnnotationAssertion( "MIM:609259"^^xsd:string) AnnotationAssertion( "MESH:C563758"^^xsd:string) AnnotationAssertion( "MYP10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003513"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 10"^^xsd:string) SubClassOf( ) # Class: (Congenital Partial Atresia of Larynx) AnnotationAssertion( "MIM:150300"^^xsd:string) AnnotationAssertion( "MESH:C563637"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003514"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Partial Atresia of Larynx"^^xsd:string) SubClassOf( ) # Class: (Neonatal Pulmonary Hypertension) AnnotationAssertion( "MIM:615371"^^xsd:string) AnnotationAssertion( "PHN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM"^^xsd:string) AnnotationAssertion( "neonatal pulmonary hypertension, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9003515"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Pulmonary Hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Channelopathies) AnnotationAssertion(Annotation( "MESH:D053447"^^xsd:string) "A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS."^^xsd:string) AnnotationAssertion( "MESH:D053447"^^xsd:string) AnnotationAssertion( "Channelopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003516"^^xsd:string) AnnotationAssertion(rdfs:label "Channelopathies"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Alsing Syndrome) AnnotationAssertion( "MESH:C536588"^^xsd:string) AnnotationAssertion( "RDO:0002214"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003518"^^xsd:string) AnnotationAssertion(rdfs:label "Alsing Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pathologic Bone Demineralization) AnnotationAssertion(Annotation( "MESH:D018488"^^xsd:string) "Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)"^^xsd:string) AnnotationAssertion( "MESH:D018488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003519"^^xsd:string) AnnotationAssertion(rdfs:label "Pathologic Bone Demineralization"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycogen Storage Disease ID) AnnotationAssertion( "MESH:C562806"^^xsd:string) AnnotationAssertion( "GSD1d"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003521"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease ID"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia with Neuropathy and Poikiloderma) AnnotationAssertion( "MIM:182815"^^xsd:string) AnnotationAssertion( "MESH:C536870"^^xsd:string) AnnotationAssertion( "familial spastic paraplegia with neuropathy and poikiloderma"^^xsd:string) AnnotationAssertion( "spastic paraplegia, neuropathy, poikiloderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003522"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia with Neuropathy and Poikiloderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Canaliculitis) AnnotationAssertion(Annotation( "MESH:D000069282"^^xsd:string) "Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS."^^xsd:string) AnnotationAssertion( "MESH:D000069282"^^xsd:string) AnnotationAssertion( "Canaliculitides"^^xsd:string) AnnotationAssertion( "Lacrimal Canaliculitides"^^xsd:string) AnnotationAssertion( "Lacrimal Canaliculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003523"^^xsd:string) AnnotationAssertion(rdfs:label "Canaliculitis"^^xsd:string) SubClassOf( ) # Class: (Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay) AnnotationAssertion( "MIM:112370"^^xsd:string) AnnotationAssertion( "MESH:C566206"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003524"^^xsd:string) AnnotationAssertion(rdfs:label "Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay"^^xsd:string) SubClassOf( ) # Class: (Myopia 21, Autosomal Dominant) AnnotationAssertion( "MIM:614167"^^xsd:string) AnnotationAssertion( "MYP21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003525"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 21, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Recurrent Laryngeal Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061226"^^xsd:string) "Traumatic injuries to the RECURRENT LARYNGEAL NERVE that may result in vocal cord dysfunction."^^xsd:string) AnnotationAssertion( "MESH:D061226"^^xsd:string) AnnotationAssertion( "RDO:0010062"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Nerve Contusion"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Nerve Injury"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Nerve Transection"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Nerve Trauma"^^xsd:string) AnnotationAssertion( "Recurrent Laryngeal Neuropathy, Traumatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003526"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Laryngeal Nerve Injuries"^^xsd:string) SubClassOf( ) # Class: (Poroma) AnnotationAssertion(Annotation( "MESH:D057091"^^xsd:string) "A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin."^^xsd:string) AnnotationAssertion( "EFO:1001826"^^xsd:string) AnnotationAssertion( "MESH:D057091"^^xsd:string) AnnotationAssertion( "RDO:0007778"^^xsd:string) AnnotationAssertion( "Apocrine Poroma"^^xsd:string) AnnotationAssertion( "Apocrine Poromas"^^xsd:string) AnnotationAssertion( "Eccrine Poroma"^^xsd:string) AnnotationAssertion( "Hidracanthoma Simplex"^^xsd:string) AnnotationAssertion( "Poromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003527"^^xsd:string) AnnotationAssertion(rdfs:label "Poroma"^^xsd:string) SubClassOf( ) # Class: (Osteopetrosis Lethal) AnnotationAssertion( "MESH:C536057"^^xsd:string) AnnotationAssertion( "RDO:0001473"^^xsd:string) AnnotationAssertion( "Autosomal malignant osteopetrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003528"^^xsd:string) AnnotationAssertion(rdfs:label "Osteopetrosis Lethal"^^xsd:string) SubClassOf( ) # Class: (Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps) AnnotationAssertion( "MIM:611773"^^xsd:string) AnnotationAssertion( "GARD:10889"^^xsd:string) AnnotationAssertion( "MESH:C567088"^^xsd:string) AnnotationAssertion( "MONDO:0012726"^^xsd:string) AnnotationAssertion( "ORDO:73229"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures"^^xsd:string) AnnotationAssertion( "Hanac"^^xsd:string) AnnotationAssertion( "Hanac Syndrome"^^xsd:string) AnnotationAssertion( "Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome"^^xsd:string) AnnotationAssertion( "Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HANAC-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:9003529"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Al-Raqad Syndrome) AnnotationAssertion( "MIM:616459"^^xsd:string) AnnotationAssertion( "ARS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003530"^^xsd:string) AnnotationAssertion(rdfs:label "Al-Raqad Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)) AnnotationAssertion(Annotation( "MIM:619872"^^xsd:string) "This disease is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-24T10:51:42Z"^^xsd:string) AnnotationAssertion( "MIM:619872"^^xsd:string) AnnotationAssertion( "IMD101"^^xsd:string) AnnotationAssertion( "immunodeficiency-101 (varicella zoster virus-specific"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003532"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)"^^xsd:string) SubClassOf( ) # Class: (Graft Pancreatitis) AnnotationAssertion(Annotation( "MESH:D055589"^^xsd:string) "An inflammatory disease and serious complication of PANCREAS TRANSPLANTATION. It is caused by a premature activation of pancreatic proenzymes leading to autodigestion of the gland and can be attributed to immunological or nonimmunological causes."^^xsd:string) AnnotationAssertion( "RDO:0007712"^^xsd:string) AnnotationAssertion( "MESH:D055589"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003533"^^xsd:string) AnnotationAssertion(rdfs:label "Graft Pancreatitis"^^xsd:string) SubClassOf( ) # Class: (Erythroderma Desquamativa of Leiner) AnnotationAssertion( "MESH:C535512"^^xsd:string) AnnotationAssertion( "RDO:0000660"^^xsd:string) AnnotationAssertion( "Erythroderma Desquamativum of Infancy"^^xsd:string) AnnotationAssertion( "Generalized erythroderma, diarrhea, and failure to thrive"^^xsd:string) AnnotationAssertion( "Leiner-Moussous Desquamative Erythroderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003534"^^xsd:string) AnnotationAssertion(rdfs:label "Erythroderma Desquamativa of Leiner"^^xsd:string) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T14:09:34Z"^^xsd:string) AnnotationAssertion( "MIM:618165"^^xsd:string) AnnotationAssertion( "BMFS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003535"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 8) AnnotationAssertion( "MIM:615436"^^xsd:string) AnnotationAssertion( "AAT8"^^xsd:string) AnnotationAssertion( "PRKG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003536"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 8"^^xsd:string) SubClassOf( ) # Class: (Phosphohydroxylysinuria) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615011"^^xsd:string) AnnotationAssertion( "PHLU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003537"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphohydroxylysinuria"^^xsd:string) SubClassOf( ) # Class: (Myotonia with Skeletal Abnormalities and Mental Retardation) AnnotationAssertion( "MIM:255710"^^xsd:string) AnnotationAssertion( "MESH:C564967"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003538"^^xsd:string) AnnotationAssertion(rdfs:label "Myotonia with Skeletal Abnormalities and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperacusis) AnnotationAssertion(Annotation( "MESH:D012001"^^xsd:string) "An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition."^^xsd:string) AnnotationAssertion( "MESH:D012001"^^xsd:string) AnnotationAssertion( "Auditory Hyperesthesia"^^xsd:string) AnnotationAssertion( "Auditory Hyperesthesias"^^xsd:string) AnnotationAssertion( "Hyperacuses"^^xsd:string) AnnotationAssertion( "Hyperacusia"^^xsd:string) AnnotationAssertion( "Hyperacusias"^^xsd:string) AnnotationAssertion( "Loudness Perception Disturbance"^^xsd:string) AnnotationAssertion( "Loudness Perception Disturbances"^^xsd:string) AnnotationAssertion( "Loudness Recruitment"^^xsd:string) AnnotationAssertion( "Loudness Recruitments"^^xsd:string) AnnotationAssertion( "Phonophobia"^^xsd:string) AnnotationAssertion( "Phonophobias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003539"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperacusis"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A10) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-15T08:34:22Z"^^xsd:string) AnnotationAssertion( "MIM:618498"^^xsd:string) AnnotationAssertion( "PAPA10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003540"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A10"^^xsd:string) SubClassOf( ) # Class: (Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance) AnnotationAssertion( "MIM:162380"^^xsd:string) AnnotationAssertion( "MESH:C563517"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003541"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Keratoconus 5) AnnotationAssertion( "MIM:614622"^^xsd:string) AnnotationAssertion( "KTCN5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003542"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 5"^^xsd:string) SubClassOf( ) # Class: (Motor Neuron Disease with Dementia and Ophthalmoplegia) AnnotationAssertion( "MIM:600333"^^xsd:string) AnnotationAssertion( "MESH:C563954"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003543"^^xsd:string) AnnotationAssertion(rdfs:label "Motor Neuron Disease with Dementia and Ophthalmoplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visceral Heterotaxy 9, Autosomal) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-23T09:31:18Z"^^xsd:string) AnnotationAssertion( "MIM:618948"^^xsd:string) AnnotationAssertion( "HTX9"^^xsd:string) AnnotationAssertion( "MNS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy-9 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003544"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 9, Autosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paraneoplastic Cerebellar Degeneration) AnnotationAssertion(Annotation( "MESH:D020362"^^xsd:string) "Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686)"^^xsd:string) AnnotationAssertion( "MESH:D020362"^^xsd:string) AnnotationAssertion( "RDO:0007401"^^xsd:string) AnnotationAssertion( "Anti Yo Associated Paraneoplastic Cerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Paraneoplastic Cerebellar Syndrome"^^xsd:string) AnnotationAssertion( "Paraneoplastic Cerebellar Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003545"^^xsd:string) AnnotationAssertion(rdfs:label "Paraneoplastic Cerebellar Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Total Intestinal Aganglionosis) AnnotationAssertion(Annotation( "PMID:4045675"^^xsd:string) "A rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum."^^xsd:string) AnnotationAssertion( "MIM:202550"^^xsd:string) AnnotationAssertion( "RDO:0003993"^^xsd:string) AnnotationAssertion( "MESH:C538058"^^xsd:string) AnnotationAssertion( "Near-total intestinal aganglionosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003546"^^xsd:string) AnnotationAssertion(rdfs:label "Total Intestinal Aganglionosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infant, Newborn, Diseases) AnnotationAssertion(Annotation( "MESH:D007232"^^xsd:string) "Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts."^^xsd:string) AnnotationAssertion( "RDO:0004815"^^xsd:string) AnnotationAssertion( "perinatal disease"^^xsd:string) AnnotationAssertion( "EFO:0010238"^^xsd:string) AnnotationAssertion( "MESH:D007232"^^xsd:string) AnnotationAssertion( "Neonatal Disease"^^xsd:string) AnnotationAssertion( "Neonatal Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003548"^^xsd:string) AnnotationAssertion(rdfs:label "Infant, Newborn, Diseases"^^xsd:string) SubClassOf( ) # Class: (Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)) AnnotationAssertion( "MIM:614458"^^xsd:string) AnnotationAssertion( "THMD5"^^xsd:string) AnnotationAssertion( "episodic encephalopathy due to thiamine pyrophosphokinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003549"^^xsd:string) AnnotationAssertion(rdfs:label "Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Transverse Limb Defects with Mental Retardation and Spasticity) AnnotationAssertion( "MIM:246555"^^xsd:string) AnnotationAssertion( "MESH:C565438"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003550"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Transverse Limb Defects with Mental Retardation and Spasticity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (German Syndrome) AnnotationAssertion( "MIM:231080"^^xsd:string) AnnotationAssertion( "MESH:C562543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003551"^^xsd:string) AnnotationAssertion(rdfs:label "German Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Candidiasis, Familial, 8) AnnotationAssertion( "RDO:9000981"^^xsd:string) AnnotationAssertion( "MIM:615527"^^xsd:string) AnnotationAssertion( "CANDF8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003552"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 8"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycosylphosphatidylinositol Biosynthesis Defect 25) AnnotationAssertion(Annotation( "MIM:619985"^^xsd:string) "A glycosylphosphatidylinositol biosynthesis defect caused by homozygous mutation in the C18ORF32 gene on chromosome 18q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-08T11:10:29Z"^^xsd:string) AnnotationAssertion( "MIM:619985"^^xsd:string) AnnotationAssertion( "GPIBD25"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with hypotonia and contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003554"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Biosynthesis Defect 25"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Androgen Insensitivity Syndrome due to Coactivator Deficiency) AnnotationAssertion( "MESH:C564545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003555"^^xsd:string) AnnotationAssertion(rdfs:label "Androgen Insensitivity Syndrome due to Coactivator Deficiency"^^xsd:string) SubClassOf( ) # Class: (Floating-Betalipoproteinemia) AnnotationAssertion( "RDO:0014667"^^xsd:string) AnnotationAssertion( "MESH:C566265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003556"^^xsd:string) AnnotationAssertion(rdfs:label "Floating-Betalipoproteinemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurofibromatosis, Familial Intestinal) AnnotationAssertion( "MESH:C537391"^^xsd:string) AnnotationAssertion( "RDO:0003229"^^xsd:string) AnnotationAssertion( "Neurofibromatosis 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003558"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofibromatosis, Familial Intestinal"^^xsd:string) SubClassOf( ) # Class: (Brachyolmia Type 3) AnnotationAssertion( "MIM:113500"^^xsd:string) AnnotationAssertion( "MESH:C562963"^^xsd:string) AnnotationAssertion( "BCYM3"^^xsd:string) AnnotationAssertion( "Brachyolmia, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003559"^^xsd:string) AnnotationAssertion(rdfs:label "Brachyolmia Type 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (5-Nucleotidase Syndrome) AnnotationAssertion( "MESH:C535321"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003561"^^xsd:string) AnnotationAssertion(rdfs:label "5-Nucleotidase Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 29) AnnotationAssertion(Annotation( "MIM:620047"^^xsd:string) "A disease characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Caused by homozygous mutation in the PDCD6IP gene on chromosome 3p22"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-22T15:38:24Z"^^xsd:string) AnnotationAssertion( "MIM:620047"^^xsd:string) AnnotationAssertion( "MCPH29"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003562"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 29"^^xsd:string) SubClassOf( ) # Class: (KOHLSCHUTTER-TONZ SYNDROME-LIKE) AnnotationAssertion(Annotation( "MIM:619229"^^xsd:string) "This is a disease characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-09T10:15:12Z"^^xsd:string) AnnotationAssertion( "SATB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619229"^^xsd:string) AnnotationAssertion( "DEN HOED-DE BOER-VOISIN SYNDROME"^^xsd:string) AnnotationAssertion( "DHDBV"^^xsd:string) AnnotationAssertion( "KTZSL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003563"^^xsd:string) AnnotationAssertion(rdfs:label "KOHLSCHUTTER-TONZ SYNDROME-LIKE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myofibromatosis) AnnotationAssertion(Annotation( "MESH:D018224"^^xsd:string) "A condition characterized by multiple formations of myofibromas (LEIOMYOMA)."^^xsd:string) AnnotationAssertion( "MESH:D018224"^^xsd:string) AnnotationAssertion( "RDO:0007121"^^xsd:string) AnnotationAssertion( "Myofibromatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003564"^^xsd:string) AnnotationAssertion(rdfs:label "Myofibromatosis"^^xsd:string) SubClassOf( ) # Class: (Paratuberculosis) AnnotationAssertion(Annotation( "MESH:D010283"^^xsd:string) "A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS."^^xsd:string) AnnotationAssertion( "MESH:D010283"^^xsd:string) AnnotationAssertion( "Johne Disease"^^xsd:string) AnnotationAssertion( "Johne's Disease"^^xsd:string) AnnotationAssertion( "Johnes Disease"^^xsd:string) AnnotationAssertion( "Paratuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003565"^^xsd:string) AnnotationAssertion(rdfs:label "Paratuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mesothelioma) AnnotationAssertion(Annotation( "MESH:D008654"^^xsd:string) "A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:0000588"^^xsd:string) AnnotationAssertion( "MESH:D008654"^^xsd:string) AnnotationAssertion( "NCI:C21619"^^xsd:string) AnnotationAssertion( "Mesotheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003566"^^xsd:string) AnnotationAssertion(rdfs:label "Mesothelioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cutaneous Bullous Amyloidosis) AnnotationAssertion( "MIM:204900"^^xsd:string) AnnotationAssertion( "MESH:C562644"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003567"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Bullous Amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Congenital Dominant Non Nuclear) AnnotationAssertion( "MESH:C538284"^^xsd:string) AnnotationAssertion( "autosomal dominant nonnuclear polymorphic congenital cataract"^^xsd:string) AnnotationAssertion( "polymorphic congenital cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003568"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Congenital Dominant Non Nuclear"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kaya-Barakat-Masson Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-18T11:54:13Z"^^xsd:string) AnnotationAssertion( "MIM:619125"^^xsd:string) AnnotationAssertion( "KABAMAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003570"^^xsd:string) AnnotationAssertion(rdfs:label "Kaya-Barakat-Masson Syndrome"^^xsd:string) SubClassOf( ) # Class: (Paraproteinemias) AnnotationAssertion( "A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "MESH:D010265"^^xsd:string) AnnotationAssertion( "Monoclonal Gammapathy"^^xsd:string) AnnotationAssertion( "Monoclonal Gammopathies"^^xsd:string) AnnotationAssertion( "Monoclonal Gammopathy"^^xsd:string) AnnotationAssertion( "Paraimmunoglobulinemia"^^xsd:string) AnnotationAssertion( "Paraimmunoglobulinemias"^^xsd:string) AnnotationAssertion( "Paraproteinemia"^^xsd:string) AnnotationAssertion( "Plasma Cell Dyscrasia"^^xsd:string) AnnotationAssertion( "monoclonal gammapathies"^^xsd:string) AnnotationAssertion( "plasma cell dyscrasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003571"^^xsd:string) AnnotationAssertion(rdfs:label "Paraproteinemias"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Mandibulofacial Dysostosis with Macroblepharon and Macrostomia) AnnotationAssertion( "MIM:602562"^^xsd:string) AnnotationAssertion( "MESH:C566520"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003572"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibulofacial Dysostosis with Macroblepharon and Macrostomia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Arthrogryposis with Anterior Horn Cell Disease) AnnotationAssertion( "This disease is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy."^^xsd:string) AnnotationAssertion( "MIM:611890"^^xsd:string) AnnotationAssertion( "RDO:0015562"^^xsd:string) AnnotationAssertion( "GLE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GLE1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C567502"^^xsd:string) AnnotationAssertion( "CAAHD"^^xsd:string) AnnotationAssertion( "LAAHD"^^xsd:string) AnnotationAssertion( "lethal arthrogryposis with anterior horn cell disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "lethal arthrogryoposis with anterior horn cell disease"^^xsd:string) AnnotationAssertion( "DOID:9003573"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Arthrogryposis with Anterior Horn Cell Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Visceral Steatosis) AnnotationAssertion( "MIM:228100"^^xsd:string) AnnotationAssertion( "MESH:C536351"^^xsd:string) AnnotationAssertion( "congenital fatty liver disease"^^xsd:string) AnnotationAssertion( "fatal neonatal hepatic steatosis"^^xsd:string) AnnotationAssertion( "fatty metamorphosis of viscera"^^xsd:string) AnnotationAssertion( "white liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003574"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Visceral Steatosis"^^xsd:string) SubClassOf( ) # Class: (Insulin Coma) AnnotationAssertion(Annotation( "MESH:D007331"^^xsd:string) "Severe HYPOGLYCEMIA induced by a large dose of exogenous INSULIN resulting in a COMA or profound state of unconsciousness from which the individual cannot be aroused."^^xsd:string) AnnotationAssertion( "MESH:D007331"^^xsd:string) AnnotationAssertion( "Insulin Shock"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003575"^^xsd:string) AnnotationAssertion(rdfs:label "Insulin Coma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prognathism) AnnotationAssertion(Annotation( "MESH:D011378"^^xsd:string) "A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D011378"^^xsd:string) AnnotationAssertion( "prognathisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003576"^^xsd:string) AnnotationAssertion(rdfs:label "Prognathism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myeloid Splenomegaly) AnnotationAssertion( "MESH:C536094"^^xsd:string) AnnotationAssertion( "Idiopathic myeloid splenomegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003578"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloid Splenomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Complex Camptosynpolydactyly) AnnotationAssertion( "MIM:607539"^^xsd:string) AnnotationAssertion( "MESH:C564383"^^xsd:string) AnnotationAssertion( "CCSPD"^^xsd:string) AnnotationAssertion( "Disorganization Type Camptopolydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003579"^^xsd:string) AnnotationAssertion(rdfs:label "Complex Camptosynpolydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Congenital Glaucoma 3, D) AnnotationAssertion( "MIM:613086"^^xsd:string) AnnotationAssertion( "MESH:C567765"^^xsd:string) AnnotationAssertion( "GLC3D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003580"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Congenital Glaucoma 3, D"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Muscle Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D009379"^^xsd:string) Annotation( "MESH:D019042"^^xsd:string) "Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles."^^xsd:string) AnnotationAssertion( "MESH:D019042"^^xsd:string) AnnotationAssertion( "MESH:D009379"^^xsd:string) AnnotationAssertion( "muscle neoplasm"^^xsd:string) AnnotationAssertion( "muscle neoplasms"^^xsd:string) AnnotationAssertion( "muscle tissue neoplasm"^^xsd:string) AnnotationAssertion( "myofibroblastoma"^^xsd:string) AnnotationAssertion( "myofibroblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003582"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Tissue Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 13q33-q34 Deletion Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-11T09:19:59Z"^^xsd:string) AnnotationAssertion( "MIM:619148"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003583"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13q33-q34 Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: (Tooth Injuries) AnnotationAssertion(Annotation( "MESH:D018677"^^xsd:string) "Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION)."^^xsd:string) AnnotationAssertion( "MESH:D018677"^^xsd:string) AnnotationAssertion( "Teeth Injuries"^^xsd:string) AnnotationAssertion( "Teeth Injury"^^xsd:string) AnnotationAssertion( "Tooth Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003584"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Major Depressive Disorder 1) AnnotationAssertion( "MIM:608520"^^xsd:string) AnnotationAssertion( "MESH:C563919"^^xsd:string) AnnotationAssertion( "RDO:0013045"^^xsd:string) AnnotationAssertion( "MDD1"^^xsd:string) AnnotationAssertion( "Unipolar Depression 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003585"^^xsd:string) AnnotationAssertion(rdfs:label "Major Depressive Disorder 1"^^xsd:string) SubClassOf( ) # Class: (Pancreatitis, Sclerosing Cholangitis, and Sicca Complex) AnnotationAssertion( "MIM:260480"^^xsd:string) AnnotationAssertion( "MESH:C564906"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003586"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatitis, Sclerosing Cholangitis, and Sicca Complex"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types, 1, X-Linked) AnnotationAssertion( "MIM:306955"^^xsd:string) AnnotationAssertion( "EFO:0009136"^^xsd:string) AnnotationAssertion( "MESH:C538116"^^xsd:string) AnnotationAssertion( "HTX1"^^xsd:string) AnnotationAssertion( "Heterotaxy, Visceral, 1, X-Linked"^^xsd:string) AnnotationAssertion( "Heterotaxy, Visceral, X-Linked"^^xsd:string) AnnotationAssertion( "Laterality, X-linked"^^xsd:string) AnnotationAssertion( "dextrocardia with other cardiac malformations"^^xsd:string) AnnotationAssertion( "situs inversus, complex cardiac defects, and splenic defects, X-linked"^^xsd:string) AnnotationAssertion( "visceral heterotaxia"^^xsd:string) AnnotationAssertion( "CHTD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003587"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 1, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multisystem Autoimmune Disease, Infantile-Onset, 3) AnnotationAssertion(Annotation( "MIM:620430"^^xsd:string) "An autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Caused by homozygous mutation in the CBLB gene on chromosome 3q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:42:35Z"^^xsd:string) AnnotationAssertion( "MIM:620430"^^xsd:string) AnnotationAssertion( "MONDO:0957388"^^xsd:string) AnnotationAssertion( "ADMIO3"^^xsd:string) AnnotationAssertion( "CBLB deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003588"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystem Autoimmune Disease, Infantile-Onset, 3"^^xsd:string) SubClassOf( ) # Class: (Acromegaloid Facial Appearance Syndrome) AnnotationAssertion( "MIM:102150"^^xsd:string) AnnotationAssertion( "MESH:C535655"^^xsd:string) AnnotationAssertion( "Thick lips and oral mucosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003589"^^xsd:string) AnnotationAssertion(rdfs:label "Acromegaloid Facial Appearance Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Duane Retraction Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-02T08:45:40Z"^^xsd:string) AnnotationAssertion( "MIM:604356"^^xsd:string) AnnotationAssertion( "DURS2"^^xsd:string) AnnotationAssertion( "Duane retraction syndrome type 2"^^xsd:string) AnnotationAssertion( "Duane syndrome type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003590"^^xsd:string) AnnotationAssertion(rdfs:label "Duane Retraction Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Telecanthus) AnnotationAssertion( "MIM:187350"^^xsd:string) AnnotationAssertion( "MESH:C562941"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003591"^^xsd:string) AnnotationAssertion(rdfs:label "Telecanthus"^^xsd:string) SubClassOf( ) # Class: (Wiedemann Oldigs Oppermann Syndrome) AnnotationAssertion( "A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities."^^xsd:string) AnnotationAssertion( "MIM:142625"^^xsd:string) AnnotationAssertion( "MESH:C536705"^^xsd:string) AnnotationAssertion( "hirsutism, skeletal dysplasia, mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003592"^^xsd:string) AnnotationAssertion(rdfs:label "Wiedemann Oldigs Oppermann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 86) AnnotationAssertion(Annotation( "MIM:620499"^^xsd:string) "A male infertility due to acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. Caused by homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T10:06:35Z"^^xsd:string) AnnotationAssertion( "MIM:620499"^^xsd:string) AnnotationAssertion( "SPGF86"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003593"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 86"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Cytopathy) AnnotationAssertion(Annotation( "url:http://members.ziggo.nl/b.beukema/mitocytopathy.pdf"^^xsd:string) "Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; these include hyperthyroidism, hypothyroidism, and hyperlipidemia."^^xsd:string) AnnotationAssertion( "RDO:0004610"^^xsd:string) AnnotationAssertion( "MESH:C540770"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003594"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Cytopathy"^^xsd:string) SubClassOf( ) # Class: (DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY) AnnotationAssertion(Annotation( "MIM:619354"^^xsd:string) "This disease is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-12T10:01:47Z"^^xsd:string) AnnotationAssertion( "MIM:619354"^^xsd:string) AnnotationAssertion( "DCIDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003595"^^xsd:string) AnnotationAssertion(rdfs:label "DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome) AnnotationAssertion( "MIM:100820"^^xsd:string) AnnotationAssertion( "EFO:0007887"^^xsd:string) AnnotationAssertion( "MESH:C535300"^^xsd:string) AnnotationAssertion( "Achoo Syndrome"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome"^^xsd:string) AnnotationAssertion( "Peroutka sneeze"^^xsd:string) AnnotationAssertion( "Photic sneeze reflex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003596"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (May-Thurner Syndrome) AnnotationAssertion(Annotation( "MESH:D062108"^^xsd:string) "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation."^^xsd:string) AnnotationAssertion( "MESH:D062108"^^xsd:string) AnnotationAssertion( "RDO:0012103"^^xsd:string) AnnotationAssertion( "Cockett Syndrome"^^xsd:string) AnnotationAssertion( "Iliac Vein Compression Syndrome"^^xsd:string) AnnotationAssertion( "Iliocaval Compression Syndrome"^^xsd:string) AnnotationAssertion( "Iliocaval Compression Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003597"^^xsd:string) AnnotationAssertion(rdfs:label "May-Thurner Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, H) AnnotationAssertion( "MIM:611276"^^xsd:string) AnnotationAssertion( "MESH:C566976"^^xsd:string) AnnotationAssertion( "GLC1H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003598"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, H"^^xsd:string) SubClassOf( ) # Class: (Alves Castelo dos Santos Syndrome) AnnotationAssertion( "RDO:0002221"^^xsd:string) AnnotationAssertion( "MESH:C536593"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003599"^^xsd:string) AnnotationAssertion(rdfs:label "Alves Castelo dos Santos Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shoulder Pain) AnnotationAssertion(Annotation( "MESH:D020069"^^xsd:string) "Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin."^^xsd:string) AnnotationAssertion( "MESH:D020069"^^xsd:string) AnnotationAssertion( "Shoulder Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003600"^^xsd:string) AnnotationAssertion(rdfs:label "Shoulder Pain"^^xsd:string) SubClassOf( ) # Class: (Pseudoinflammatory Fundus Dystrophy, Finnish Type) AnnotationAssertion( "MIM:264420"^^xsd:string) AnnotationAssertion( "MESH:C535828"^^xsd:string) AnnotationAssertion( "Fundus dystrophy, pseudoinflammatory recessive form"^^xsd:string) AnnotationAssertion( "PFD, Finnish type"^^xsd:string) AnnotationAssertion( "PFD, Lavia type"^^xsd:string) AnnotationAssertion( "Pseudoinflammatory fundus dystrophy"^^xsd:string) AnnotationAssertion( "Pseudoinflammatory fundus dystrophy, Lavia type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003601"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoinflammatory Fundus Dystrophy, Finnish Type"^^xsd:string) SubClassOf( ) # Class: (Patent Ductus Arteriosus 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617035"^^xsd:string) AnnotationAssertion( "RDO:9001463"^^xsd:string) AnnotationAssertion( "PDA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003602"^^xsd:string) AnnotationAssertion(rdfs:label "Patent Ductus Arteriosus 2"^^xsd:string) SubClassOf( ) # Class: (Hemolysis) AnnotationAssertion(Annotation( "MESH:D006461"^^xsd:string) "The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity."^^xsd:string) AnnotationAssertion( "EFO:0009473"^^xsd:string) AnnotationAssertion( "MESH:D006461"^^xsd:string) AnnotationAssertion( "Extravascular Hemolyses"^^xsd:string) AnnotationAssertion( "Extravascular Hemolysis"^^xsd:string) AnnotationAssertion( "Intravascular Hemolyses"^^xsd:string) AnnotationAssertion( "Intravascular Hemolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "G6PD GIFU"^^xsd:string) AnnotationAssertion( "DOID:9003603"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolysis"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Atresia with Intact Ventricular Septum) AnnotationAssertion( "MIM:265150"^^xsd:string) AnnotationAssertion( "MESH:C562832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003604"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Atresia with Intact Ventricular Septum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, B) AnnotationAssertion( "MIM:606689"^^xsd:string) AnnotationAssertion( "GLC1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003605"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, B"^^xsd:string) SubClassOf( ) # Class: (dental phobia) AnnotationAssertion(Annotation( "EFO:1001884"^^xsd:string) "This is the fear of dentistry and of receiving dental care."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-27T15:50:10Z"^^xsd:string) AnnotationAssertion( "EFO:1001884"^^xsd:string) AnnotationAssertion( "dental anxiety"^^xsd:string) AnnotationAssertion( "dental fear"^^xsd:string) AnnotationAssertion( "dentist phobia"^^xsd:string) AnnotationAssertion( "dentophobia"^^xsd:string) AnnotationAssertion( "odontophobia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003606"^^xsd:string) AnnotationAssertion(rdfs:label "dental phobia"^^xsd:string) SubClassOf( ) # Class: (Giacheti Syndrome) AnnotationAssertion( "MIM:612917"^^xsd:string) AnnotationAssertion( "MESH:C567864"^^xsd:string) AnnotationAssertion( "Marfanoid Habitus and Specific Language and Learning Disabilities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003607"^^xsd:string) AnnotationAssertion(rdfs:label "Giacheti Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dilated Cardiomyopathy 3A) AnnotationAssertion( "MESH:C564721"^^xsd:string) AnnotationAssertion( "Cardiomyopathy, Dilated, X-Linked Fatal Infantile"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003608"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 3A"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Asthenopia) AnnotationAssertion( "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T07:18:40Z"^^xsd:string) AnnotationAssertion( "DOID:10141"^^xsd:string) AnnotationAssertion( "MESH:D001248"^^xsd:string) AnnotationAssertion( "Eye Fatigue"^^xsd:string) AnnotationAssertion( "Eyestrain"^^xsd:string) AnnotationAssertion( "accommodative strain"^^xsd:string) AnnotationAssertion( "visual fatigue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003610"^^xsd:string) AnnotationAssertion(rdfs:label "Asthenopia"^^xsd:string) SubClassOf( ) # Class: (Trachomatous Trichiasis) AnnotationAssertion( "A complication of a conjunctival and corneal infection by Chlamydia trachomatis, consisting of eyelashes abnormally turning inward and producing constant irritation caused by motion of the lids."^^xsd:string) AnnotationAssertion( "TT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003611"^^xsd:string) AnnotationAssertion(rdfs:label "Trachomatous Trichiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 12) AnnotationAssertion( "MESH:C566405"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003612"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 12"^^xsd:string) SubClassOf( ) # Class: (Laryngeal Neoplasms) AnnotationAssertion(Annotation( "MESH:D007822"^^xsd:string) "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS."^^xsd:string) AnnotationAssertion( "EFO:0003817"^^xsd:string) AnnotationAssertion( "MESH:D007822"^^xsd:string) AnnotationAssertion( "Laryngeal Neoplasm"^^xsd:string) AnnotationAssertion( "laryngeal tumor"^^xsd:string) AnnotationAssertion( "larynx neoplasm"^^xsd:string) AnnotationAssertion( "larynx neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003613"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Roy Maroteaux Kremp Syndrome) AnnotationAssertion( "MIM:250500"^^xsd:string) AnnotationAssertion( "MESH:C535875"^^xsd:string) AnnotationAssertion( "Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003614"^^xsd:string) AnnotationAssertion(rdfs:label "Roy Maroteaux Kremp Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Granuloma, Foreign-Body) AnnotationAssertion(Annotation( "MESH:D015745"^^xsd:string) "Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes."^^xsd:string) AnnotationAssertion( "MESH:D015745"^^xsd:string) AnnotationAssertion( "RDO:0006915"^^xsd:string) AnnotationAssertion( "Foreign-Body Granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003615"^^xsd:string) AnnotationAssertion(rdfs:label "Granuloma, Foreign-Body"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Carrington Syndrome) AnnotationAssertion( "RDO:0000807"^^xsd:string) AnnotationAssertion( "MESH:C535590"^^xsd:string) AnnotationAssertion( "Carrington's Disease"^^xsd:string) AnnotationAssertion( "Carrington's pulmonary eosinophilia"^^xsd:string) AnnotationAssertion( "Chronic eosinophilic pneumonia (CEP)"^^xsd:string) AnnotationAssertion( "Chronic idiopathic eosinophilic pneumonia"^^xsd:string) AnnotationAssertion( "Eosinophilic idiopathic chronic pneumopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003617"^^xsd:string) AnnotationAssertion(rdfs:label "Carrington Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (HYPERTRIGLYCERIDEMIA 2) AnnotationAssertion(Annotation( "MIM:619324"^^xsd:string) "This is a disease is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-13T13:10:35Z"^^xsd:string) AnnotationAssertion( "MIM:619324"^^xsd:string) AnnotationAssertion( "HYTG2"^^xsd:string) AnnotationAssertion( "hypertriglyceridemia-2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003618"^^xsd:string) AnnotationAssertion(rdfs:label "HYPERTRIGLYCERIDEMIA 2"^^xsd:string) SubClassOf( ) # Class: (Homocystinuria, Pyridoxine-Responsive) AnnotationAssertion( "MESH:C565513"^^xsd:string) AnnotationAssertion( "RDO:0014127"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003619"^^xsd:string) AnnotationAssertion(rdfs:label "Homocystinuria, Pyridoxine-Responsive"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Plexosarcoma) AnnotationAssertion( "MESH:C537517"^^xsd:string) AnnotationAssertion( "Gastrointestinal autonomic nerve tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003621"^^xsd:string) AnnotationAssertion(rdfs:label "Plexosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 10) AnnotationAssertion(Annotation( "MIM:619868"^^xsd:string) "An autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-09T10:47:59Z"^^xsd:string) AnnotationAssertion( "MYO5B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619868"^^xsd:string) AnnotationAssertion( "PFIC10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003622"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 10"^^xsd:string) SubClassOf( ) # Class: (Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System) AnnotationAssertion( "MESH:C565949"^^xsd:string) AnnotationAssertion( "RDO:0014449"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003623"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System"^^xsd:string) SubClassOf( ) # Class: (Refsum Disease with Increased Pipecolic Acidemia) AnnotationAssertion( "MESH:C535517"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003624"^^xsd:string) AnnotationAssertion(rdfs:label "Refsum Disease with Increased Pipecolic Acidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES) AnnotationAssertion(Annotation( "MIM:618155"^^xsd:string) "This disease is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-13T14:24:42Z"^^xsd:string) AnnotationAssertion( "MIM:618155"^^xsd:string) AnnotationAssertion( "EORVA"^^xsd:string) AnnotationAssertion( "external ophthalmoplegia with rib and vertebral anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003625"^^xsd:string) AnnotationAssertion(rdfs:label "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paragangliomas 3) AnnotationAssertion( "MIM:605373"^^xsd:string) AnnotationAssertion( "MESH:C565335"^^xsd:string) AnnotationAssertion( "PGL3"^^xsd:string) AnnotationAssertion( "PPGL3"^^xsd:string) AnnotationAssertion( "extraadrenal pheochromocytoma and cervical paraganglioma"^^xsd:string) AnnotationAssertion( "familial extraadrenal pheochromocytoma"^^xsd:string) AnnotationAssertion( "familial glomus tumors 3"^^xsd:string) AnnotationAssertion( "hereditary extraadrenal paragangliomas"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003626"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosomal Instability with Tissue-Specific Radiosensitivity) AnnotationAssertion( "MIM:215510"^^xsd:string) AnnotationAssertion( "MESH:C565848"^^xsd:string) AnnotationAssertion( "MONDO:0008983"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003627"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosomal Instability with Tissue-Specific Radiosensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Silicosiderosis) AnnotationAssertion( "MESH:C537337"^^xsd:string) AnnotationAssertion( "Hematite pneumoconiosis"^^xsd:string) AnnotationAssertion( "Iron miners lung"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003628"^^xsd:string) AnnotationAssertion(rdfs:label "Silicosiderosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jeffries-Lakhani Neurodevelopmental Syndrome) AnnotationAssertion( "An autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Caused by homozygous or compound heterozygous mutations in the CRELD1 gene on chromosome 3p25."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-05-14T09:12:36Z"^^xsd:string) AnnotationAssertion( "MIM:620771"^^xsd:string) AnnotationAssertion( "JELANS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003629"^^xsd:string) AnnotationAssertion(rdfs:label "Jeffries-Lakhani Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) # Class: (Acute Disease) AnnotationAssertion(Annotation( "MESH:D000208"^^xsd:string) "Disease having a short and relatively severe course."^^xsd:string) AnnotationAssertion( "MESH:D000208"^^xsd:string) AnnotationAssertion( "Acute Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003630"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Disease"^^xsd:string) SubClassOf( ) # Class: (Diastolic Dysfunction) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003631"^^xsd:string) AnnotationAssertion(rdfs:label "Diastolic Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Meigs Syndrome) AnnotationAssertion(Annotation( "MESH:D008539"^^xsd:string) "The triad of benign FIBROMA or other ovarian tumors with ASCITES, and HYDROTHORAX due to large PLEURAL EFFUSIONS."^^xsd:string) AnnotationAssertion( "MESH:D008539"^^xsd:string) AnnotationAssertion( "Meig Syndrome"^^xsd:string) AnnotationAssertion( "Meig's Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003632"^^xsd:string) AnnotationAssertion(rdfs:label "Meigs Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 50) AnnotationAssertion(Annotation( "MIM:620356"^^xsd:string) "A primary ciliary dyskinesia characterized by chronic sinusitis and bronchitis as well as male infertility. Caused by homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-01T09:04:08Z"^^xsd:string) AnnotationAssertion( "MIM:620356"^^xsd:string) AnnotationAssertion( "CILD50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003633"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 50"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES) AnnotationAssertion(Annotation( "MIM:619880"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-30T12:05:32Z"^^xsd:string) AnnotationAssertion( "MIM:619880"^^xsd:string) AnnotationAssertion( "NEDGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003634"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Pterygium Colli) AnnotationAssertion( "MIM:177990"^^xsd:string) AnnotationAssertion( "MESH:C566741"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003635"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Pterygium Colli"^^xsd:string) SubClassOf( ) # Class: (Absence of Nasal Bones) AnnotationAssertion( "MIM:161480"^^xsd:string) AnnotationAssertion( "MESH:C562753"^^xsd:string) AnnotationAssertion( "agenesis of nasal cartilages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003636"^^xsd:string) AnnotationAssertion(rdfs:label "Absence of Nasal Bones"^^xsd:string) SubClassOf( ) # Class: (Vestibulocochlear Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061285"^^xsd:string) "Traumatic injuries to the VESTIBULOCOCHLEAR NERVE."^^xsd:string) AnnotationAssertion( "MESH:D061285"^^xsd:string) AnnotationAssertion( "Cranial Nerve VIII Injury"^^xsd:string) AnnotationAssertion( "Eighth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Eighth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Eighth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Eighth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Eighth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Eighth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Traumatic Vestibulocochlear Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Vestibulocochlear Neuropathy"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Contusion"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Contusions"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Injury"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Transection"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Transections"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Trauma"^^xsd:string) AnnotationAssertion( "Vestibulocochlear Nerve Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003637"^^xsd:string) AnnotationAssertion(rdfs:label "Vestibulocochlear Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diabetic maculopathy) AnnotationAssertion(Annotation( "EFO:0010133"^^xsd:string) "Diabetic maculopathy is a type of diabetic retinopathy and it is a major eye complication and visual impairment amongst people with diabetes. It is a condition that affects the macula, a highly sensitive region located centrally on the retina which is responsible for sharp, clear, and accurate color vision."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-15T11:28:35Z"^^xsd:string) AnnotationAssertion( "EFO:0010133"^^xsd:string) AnnotationAssertion( "DM"^^xsd:string) AnnotationAssertion( "disorder of macula due to diabetes mellitus"^^xsd:string) AnnotationAssertion( "maculopathy due to diabetes mellitus"^^xsd:string) AnnotationAssertion( "maculopathy with diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003638"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic maculopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aorta-Pulmonary Artery Fistula) AnnotationAssertion( "MESH:C537782"^^xsd:string) AnnotationAssertion( "Aorto-pulmonary artery fistula"^^xsd:string) AnnotationAssertion( "Aortopulmonary fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003639"^^xsd:string) AnnotationAssertion(rdfs:label "Aorta-Pulmonary Artery Fistula"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Expansile Bone Lesions) AnnotationAssertion( "MIM:603439"^^xsd:string) AnnotationAssertion( "MESH:C566375"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003641"^^xsd:string) AnnotationAssertion(rdfs:label "Expansile Bone Lesions"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis, Adelaide Type) AnnotationAssertion( "MIM:600593"^^xsd:string) AnnotationAssertion( "MESH:C563471"^^xsd:string) AnnotationAssertion( "RDO:0012718"^^xsd:string) AnnotationAssertion( "CRSA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003642"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis, Adelaide Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 6) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-23T10:26:03Z"^^xsd:string) AnnotationAssertion( "MIM:618849"^^xsd:string) AnnotationAssertion( "BMFS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003643"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Fara Chlupackova Syndrome) AnnotationAssertion( "MESH:C537074"^^xsd:string) AnnotationAssertion( "RDO:0002843"^^xsd:string) AnnotationAssertion( "Familial oto-facio-cervical dysmorphia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003644"^^xsd:string) AnnotationAssertion(rdfs:label "Fara Chlupackova Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopathy with Giant Abnormal Mitochondria) AnnotationAssertion( "MIM:255140"^^xsd:string) AnnotationAssertion( "MESH:C564971"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003645"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy with Giant Abnormal Mitochondria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arterial Thrombosis) AnnotationAssertion( "The formation or presence of a blood clot (THROMBUS) within an artery."^^xsd:string) AnnotationAssertion( "RDO:9000060"^^xsd:string) AnnotationAssertion( "Artery Thrombis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003646"^^xsd:string) AnnotationAssertion(rdfs:label "Arterial Thrombosis"^^xsd:string) SubClassOf( ) # Class: (Hypospadias 2, X-Linked) AnnotationAssertion( "MIM:300758"^^xsd:string) AnnotationAssertion( "MESH:C567462"^^xsd:string) AnnotationAssertion( "Hysp2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003647"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias 2, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (N Acetyltransferase Deficiency) AnnotationAssertion( "MESH:C536107"^^xsd:string) AnnotationAssertion( "N acetyltransferase 1 deficiency"^^xsd:string) AnnotationAssertion( "NAT1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003648"^^xsd:string) AnnotationAssertion(rdfs:label "N Acetyltransferase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hand-Arm Vibration Syndrome) AnnotationAssertion(Annotation( "MESH:D053421"^^xsd:string) "An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity."^^xsd:string) AnnotationAssertion( "EFO:1001337"^^xsd:string) AnnotationAssertion( "MESH:D053421"^^xsd:string) AnnotationAssertion( "RDO:0007618"^^xsd:string) AnnotationAssertion( "Hand-Arm Vibration Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003649"^^xsd:string) AnnotationAssertion(rdfs:label "Hand-Arm Vibration Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Precocious Osteodysplasty of Danks, Mayne, and Kozlowski) AnnotationAssertion( "MIM:259270"^^xsd:string) AnnotationAssertion( "MESH:C564922"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003650"^^xsd:string) AnnotationAssertion(rdfs:label "Precocious Osteodysplasty of Danks, Mayne, and Kozlowski"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hydatidiform Mole, Recurrent, 1) AnnotationAssertion( "A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Recurrent hydatidiform mole-1 (HYDM1) is caused by homozygous or compound heterozygous mutation in the NLRP7 gene on chromosome 19q13. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:231090"^^xsd:string) AnnotationAssertion( "HYDM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003652"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole, Recurrent, 1"^^xsd:string) SubClassOf( ) # Class: (Microcephalic Osteodysplastic Primordial Dwarfism, Type III) AnnotationAssertion( "MIM:210730"^^xsd:string) AnnotationAssertion( "MESH:C537320"^^xsd:string) AnnotationAssertion( "MOPD III"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type"^^xsd:string) AnnotationAssertion( "microcephalic osteodysplastic primordial dwarfism, type 3"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type 3"^^xsd:string) AnnotationAssertion( "osteodysplastic primordial dwarfism, type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003653"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephalic Osteodysplastic Primordial Dwarfism, Type III"^^xsd:string) SubClassOf( ) # Class: (Testicular Germ Cell Tumor) AnnotationAssertion( "MIM:273300"^^xsd:string) AnnotationAssertion( "EFO:1000566"^^xsd:string) AnnotationAssertion( "MESH:C563236"^^xsd:string) AnnotationAssertion( "ORDO:363504"^^xsd:string) AnnotationAssertion( "TGCT"^^xsd:string) AnnotationAssertion( "germ cell tumor of testis"^^xsd:string) AnnotationAssertion( "EMBRYONAL CELL CARCINOMA"^^xsd:string) AnnotationAssertion( "ENDODERMAL SINUS TUMOR"^^xsd:string) AnnotationAssertion( "MALE GERM CELL TUMOR"^^xsd:string) AnnotationAssertion( "MALE GERM CELL TUMOR, SOMATIC"^^xsd:string) AnnotationAssertion( "MGCT SEMINOMA"^^xsd:string) AnnotationAssertion( "NONSEMINOMATOUS GERM CELL TUMORS"^^xsd:string) AnnotationAssertion( "SPERMATOCYTIC SEMINOMA"^^xsd:string) AnnotationAssertion( "testicular teratoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003654"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Germ Cell Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Post-Traumatic Epilepsy) AnnotationAssertion(Annotation( "MESH:D004834"^^xsd:string) "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)"^^xsd:string) AnnotationAssertion( "MESH:D004834"^^xsd:string) AnnotationAssertion( "Concussive Convulsion"^^xsd:string) AnnotationAssertion( "Concussive Convulsions"^^xsd:string) AnnotationAssertion( "Early Post Traumatic Seizures"^^xsd:string) AnnotationAssertion( "Early Post-Traumatic Seizure"^^xsd:string) AnnotationAssertion( "Impact Seizure"^^xsd:string) AnnotationAssertion( "Impact Seizures"^^xsd:string) AnnotationAssertion( "Late Post Traumatic Seizures"^^xsd:string) AnnotationAssertion( "Late Post-Traumatic Seizure"^^xsd:string) AnnotationAssertion( "Post Traumatic Seizure Disorder"^^xsd:string) AnnotationAssertion( "Post-Traumatic Epilepsies"^^xsd:string) AnnotationAssertion( "Post-Traumatic Seizure Disorders"^^xsd:string) AnnotationAssertion( "Traumatic Epilepsies"^^xsd:string) AnnotationAssertion( "Traumatic Epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003655"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Traumatic Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Achromatopsia 1) AnnotationAssertion( "Rod monochromacy"^^xsd:string) AnnotationAssertion( "Rod monochromatism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003656"^^xsd:string) AnnotationAssertion(rdfs:label "Achromatopsia 1"^^xsd:string) SubClassOf( ) # Class: (Perennial Allergic Rhinitis) AnnotationAssertion(Annotation( "MESH:D012221"^^xsd:string) "Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc."^^xsd:string) AnnotationAssertion( "EFO:1001417"^^xsd:string) AnnotationAssertion( "MESH:D012221"^^xsd:string) AnnotationAssertion( "nonseasonal allergic rhinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003657"^^xsd:string) AnnotationAssertion(rdfs:label "Perennial Allergic Rhinitis"^^xsd:string) SubClassOf( ) # Class: (Hydropneumothorax) AnnotationAssertion(Annotation( "MESH:D006872"^^xsd:string) "A collection of fluid and gas within the pleural cavity. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006872"^^xsd:string) AnnotationAssertion( "RDO:0005824"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003658"^^xsd:string) AnnotationAssertion(rdfs:label "Hydropneumothorax"^^xsd:string) SubClassOf( ) # Class: (Chromosome Xq13 Duplication Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-06T10:48:26Z"^^xsd:string) AnnotationAssertion( "MIM:301069"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003659"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq13 Duplication Syndrome"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Dystonia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORDO:254851"^^xsd:string) AnnotationAssertion( "maternally-inherited mitochondrial dystonia"^^xsd:string) AnnotationAssertion( "mitochondrial DNA-related dystonia"^^xsd:string) AnnotationAssertion( "mtDNA-related dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003660"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Dystonia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fryns Hofkens Fabry Syndrome) AnnotationAssertion( "MIM:191440"^^xsd:string) AnnotationAssertion( "MESH:C538069"^^xsd:string) AnnotationAssertion( "ulna hypoplasia"^^xsd:string) AnnotationAssertion( "ulnar hypoplasia"^^xsd:string) AnnotationAssertion( "upper limb mesomelic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003662"^^xsd:string) AnnotationAssertion(rdfs:label "Fryns Hofkens Fabry Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dohle Bodies and Leukemia) AnnotationAssertion( "MIM:223350"^^xsd:string) AnnotationAssertion( "MESH:C565617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003663"^^xsd:string) AnnotationAssertion(rdfs:label "Dohle Bodies and Leukemia"^^xsd:string) SubClassOf( ) # Class: (Salmonella Food Poisoning) AnnotationAssertion(Annotation( "MESH:D012478"^^xsd:string) "Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply."^^xsd:string) AnnotationAssertion( "EFO:0007475"^^xsd:string) AnnotationAssertion( "MESH:D012478"^^xsd:string) AnnotationAssertion( "Salmonella Food Poisonings"^^xsd:string) AnnotationAssertion( "Salmonella gastroenteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003664"^^xsd:string) AnnotationAssertion(rdfs:label "Salmonella Food Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glycogen Storage Disease XI) AnnotationAssertion( "MIM:612933"^^xsd:string) AnnotationAssertion( "MESH:C538133"^^xsd:string) AnnotationAssertion( "GSD XI"^^xsd:string) AnnotationAssertion( "GSD11"^^xsd:string) AnnotationAssertion( "lactate dehydrogenase A deficiency"^^xsd:string) AnnotationAssertion( "lactate dehydrogenase deficiency type A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003665"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease XI"^^xsd:string) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency) AnnotationAssertion(Annotation( "DOID:9406"^^xsd:string) "A pituitary gland disease characterized by the decreased secretion of two or more of the eight hormones normally produced by the pituitary gland."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T13:13:36Z"^^xsd:string) AnnotationAssertion( "EFO:0020037"^^xsd:string) AnnotationAssertion( "autosominal recessive combined pituitary hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003666"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency"^^xsd:string) SubClassOf( ) # Class: (Wiskott-Aldrich Syndrome, Autosomal Dominant Form) AnnotationAssertion( "MIM:600903"^^xsd:string) AnnotationAssertion( "MESH:C563431"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003667"^^xsd:string) AnnotationAssertion(rdfs:label "Wiskott-Aldrich Syndrome, Autosomal Dominant Form"^^xsd:string) SubClassOf( ) # Class: (Trichofolliculoma) AnnotationAssertion( "MESH:C536553"^^xsd:string) AnnotationAssertion( "RDO:0002169"^^xsd:string) AnnotationAssertion( "Congenital trichofolliculoma"^^xsd:string) AnnotationAssertion( "Recurrent trichofolliculoma"^^xsd:string) AnnotationAssertion( "Sebaceous trichofolliculoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003668"^^xsd:string) AnnotationAssertion(rdfs:label "Trichofolliculoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Low Back Pain) AnnotationAssertion(Annotation( "MESH:D017116"^^xsd:string) "Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D017116"^^xsd:string) AnnotationAssertion( "Low Back Ache"^^xsd:string) AnnotationAssertion( "Low Back Aches"^^xsd:string) AnnotationAssertion( "Low Back Pain, Posterior Compartment"^^xsd:string) AnnotationAssertion( "Low Back Pains"^^xsd:string) AnnotationAssertion( "Low Backache"^^xsd:string) AnnotationAssertion( "Low Backaches"^^xsd:string) AnnotationAssertion( "Lower Back Pain"^^xsd:string) AnnotationAssertion( "Lower Back Pains"^^xsd:string) AnnotationAssertion( "Lumbago"^^xsd:string) AnnotationAssertion( "Mechanical Low Back Pain"^^xsd:string) AnnotationAssertion( "Postural Low Back Pain"^^xsd:string) AnnotationAssertion( "Recurrent Low Back Pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003669"^^xsd:string) AnnotationAssertion(rdfs:label "Low Back Pain"^^xsd:string) SubClassOf( ) # Class: (acute synovitis) AnnotationAssertion(Annotation( "NCI:C97140"^^xsd:string) Annotation( "https://www.merriam-webster.com"^^xsd:string) "This is a connective tissue disease of sudden onset and short duration that results in inflammation of the synovial lining of a joint, causing pain and swelling."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T16:38:01Z"^^xsd:string) AnnotationAssertion( "EFO:0008998"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003670"^^xsd:string) AnnotationAssertion(rdfs:label "acute synovitis"^^xsd:string) SubClassOf( ) # Class: (Hypoventilation) AnnotationAssertion(Annotation( "MESH:D007040"^^xsd:string) "A reduction in the amount of air entering the pulmonary alveoli."^^xsd:string) AnnotationAssertion( "MESH:D007040"^^xsd:string) AnnotationAssertion( "Hypoventilations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003671"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoventilation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keratoconus 6) AnnotationAssertion( "MIM:614623"^^xsd:string) AnnotationAssertion( "KTCN6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003672"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 6"^^xsd:string) SubClassOf( ) # Class: (Sener Syndrome) AnnotationAssertion( "MIM:606156"^^xsd:string) AnnotationAssertion( "MESH:C537579"^^xsd:string) AnnotationAssertion( "frontonasal dysplasia and dilated Virchow-Robin spaces"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003673"^^xsd:string) AnnotationAssertion(rdfs:label "Sener Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chest Pain) AnnotationAssertion(Annotation( "MESH:D002637"^^xsd:string) "Pressure, burning, or numbness in the chest."^^xsd:string) AnnotationAssertion( "MESH:D002637"^^xsd:string) AnnotationAssertion( "Chest Pains"^^xsd:string) AnnotationAssertion( "Precordial Catch"^^xsd:string) AnnotationAssertion( "Precordial Catch Syndrome"^^xsd:string) AnnotationAssertion( "Texidor Twinge"^^xsd:string) AnnotationAssertion( "Texidor's Twinge"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003674"^^xsd:string) AnnotationAssertion(rdfs:label "Chest Pain"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa 78) AnnotationAssertion( "MIM:617433"^^xsd:string) AnnotationAssertion( "RP78"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003675"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 78"^^xsd:string) SubClassOf( ) # Class: (Brain Hypoxia-Ischemia) AnnotationAssertion(Annotation( "MESH:D020925"^^xsd:string) "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."^^xsd:string) AnnotationAssertion( "EFO:1000846"^^xsd:string) AnnotationAssertion( "MESH:D020925"^^xsd:string) AnnotationAssertion( "Anoxic Ischemic Encephalopathy"^^xsd:string) AnnotationAssertion( "Anoxic-Ischemic Encephalopathies"^^xsd:string) AnnotationAssertion( "Brain Anoxia Ischemia"^^xsd:string) AnnotationAssertion( "Brain Anoxia-Ischemias"^^xsd:string) AnnotationAssertion( "Brain Hypoxia-Ischemias"^^xsd:string) AnnotationAssertion( "Brain Ischemia-Anoxias"^^xsd:string) AnnotationAssertion( "Brain Ischemia-Hypoxias"^^xsd:string) AnnotationAssertion( "Cerebral Anoxia Ischemia"^^xsd:string) AnnotationAssertion( "Cerebral Anoxia-Ischemias"^^xsd:string) AnnotationAssertion( "Cerebral Hypoxia Ischemia"^^xsd:string) AnnotationAssertion( "Cerebral Hypoxia-Ischemias"^^xsd:string) AnnotationAssertion( "Cerebral Ischemia-Anoxias"^^xsd:string) AnnotationAssertion( "Cerebral Ischemia-Hypoxias"^^xsd:string) AnnotationAssertion( "Hypoxic Ischemic Encephalopathy"^^xsd:string) AnnotationAssertion( "Hypoxic-Ischemic Encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003676"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Hypoxia-Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies) AnnotationAssertion( "MIM:607131"^^xsd:string) AnnotationAssertion( "MESH:C564621"^^xsd:string) AnnotationAssertion( "AGBK"^^xsd:string) AnnotationAssertion( "Al-Gazali-Bakalinova Syndrome"^^xsd:string) AnnotationAssertion( "MMEDF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003677"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pyruvate Dehydrogenase E3-Binding Protein Deficiency) AnnotationAssertion( "MIM:245349"^^xsd:string) AnnotationAssertion( "MESH:C565447"^^xsd:string) AnnotationAssertion( "Dihydrolipoyl dehydrogenase"^^xsd:string) AnnotationAssertion( "Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex"^^xsd:string) AnnotationAssertion( "PDHXD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003678"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Dehydrogenase E3-Binding Protein Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keratitis Sicca) AnnotationAssertion( "MESH:C531719"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003679"^^xsd:string) AnnotationAssertion(rdfs:label "Keratitis Sicca"^^xsd:string) SubClassOf( ) # Class: (Plasmodium Falciparum Blood Infection Level) AnnotationAssertion( "MIM:248310"^^xsd:string) AnnotationAssertion( "RDO:0008355"^^xsd:string) AnnotationAssertion( "PFBI"^^xsd:string) AnnotationAssertion( "PLASMODIUM FALCIPARUM PARASITEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003680"^^xsd:string) AnnotationAssertion(rdfs:label "Plasmodium Falciparum Blood Infection Level"^^xsd:string) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 52) AnnotationAssertion(Annotation( "MIM:620570"^^xsd:string) "An autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects. Caused by homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-11-10T14:39:45Z"^^xsd:string) AnnotationAssertion( "MIM:620570"^^xsd:string) AnnotationAssertion( "CILD52"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia 52, with or without situs invertus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003681"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 52"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 88) AnnotationAssertion(Annotation( "MIM:620547"^^xsd:string) "A male infertility due to prepachytene meiotic arrest. Caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-24T10:36:13Z"^^xsd:string) AnnotationAssertion( "MIM:620547"^^xsd:string) AnnotationAssertion( "SPGF88"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003682"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 88"^^xsd:string) SubClassOf( ) # Class: (Accessory Pancreas) AnnotationAssertion( "MESH:C536003"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003683"^^xsd:string) AnnotationAssertion(rdfs:label "Accessory Pancreas"^^xsd:string) SubClassOf( ) # Class: (Brachyolmia Type 1, Hobaek Type) AnnotationAssertion( "MIM:271530"^^xsd:string) AnnotationAssertion( "MESH:C537099"^^xsd:string) AnnotationAssertion( "ORDO:93301"^^xsd:string) AnnotationAssertion( "BCYM1A"^^xsd:string) AnnotationAssertion( "Brachyolmia, recessive Hobaek type"^^xsd:string) AnnotationAssertion( "Brachyolmia, recessive type of Hobaek"^^xsd:string) AnnotationAssertion( "Spondylodysplasia with pure brachyolmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003684"^^xsd:string) AnnotationAssertion(rdfs:label "Brachyolmia Type 1, Hobaek Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mismatch Repair Cancer Syndrome 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-30T11:34:43Z"^^xsd:string) AnnotationAssertion( "PMS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619101"^^xsd:string) AnnotationAssertion( "MMRCS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003685"^^xsd:string) AnnotationAssertion(rdfs:label "Mismatch Repair Cancer Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Singh Chhaparwal Dhanda Syndrome) AnnotationAssertion( "MESH:C537341"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003686"^^xsd:string) AnnotationAssertion(rdfs:label "Singh Chhaparwal Dhanda Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multisystem Autoimmune Disease with Facial Dysmorphism) AnnotationAssertion( "MIM:613385"^^xsd:string) AnnotationAssertion( "ADMFD"^^xsd:string) AnnotationAssertion( "syndromic multisystem autoimmune disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003687"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystem Autoimmune Disease with Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Toxoplasma Chorioretinitis) AnnotationAssertion( "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The precipitating condition of this ophtalmologic manifestation is toxoplasmosis."^^xsd:string) AnnotationAssertion( "TR"^^xsd:string) AnnotationAssertion( "toxoplasmic retinochoroiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003688"^^xsd:string) AnnotationAssertion(rdfs:label "Toxoplasma Chorioretinitis"^^xsd:string) SubClassOf( ) # Class: (HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618493"^^xsd:string) "An autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-12T15:00:28Z"^^xsd:string) AnnotationAssertion( "MIM:618493"^^xsd:string) AnnotationAssertion( "HIDEA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003689"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Carcinoma, Lewis Lung) AnnotationAssertion(Annotation( "MESH:D018827"^^xsd:string) "A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy."^^xsd:string) AnnotationAssertion( "EFO:1001770"^^xsd:string) AnnotationAssertion( "MESH:D018827"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003690"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinoma, Lewis Lung"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rubivirus Infections) AnnotationAssertion(Annotation( "MESH:D018355"^^xsd:string) "Virus diseases caused by the RUBIVIRUS genus, of the family TOGAVIRIDAE."^^xsd:string) AnnotationAssertion( "MESH:D018355"^^xsd:string) AnnotationAssertion( "RDO:0006511"^^xsd:string) AnnotationAssertion( "Rubivirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003691"^^xsd:string) AnnotationAssertion(rdfs:label "Rubivirus Infections"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES) AnnotationAssertion(Annotation( "MIM:619922"^^xsd:string) "This disease is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-13T12:25:42Z"^^xsd:string) AnnotationAssertion( "MIM:619922"^^xsd:string) AnnotationAssertion( "NEDDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003692"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Exostoses Type II) AnnotationAssertion( "Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. Multiple hereditary exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2) on chromosome 11p11. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:133701"^^xsd:string) AnnotationAssertion( "EXT2"^^xsd:string) AnnotationAssertion( "hereditary multiple exostoses 2"^^xsd:string) AnnotationAssertion( "multiple exostoses type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003693"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Exostoses Type II"^^xsd:string) SubClassOf( ) # Class: (Cecal Neoplasms) AnnotationAssertion(Annotation( "MESH:D002430"^^xsd:string) "Tumors or cancer of the CECUM."^^xsd:string) AnnotationAssertion( "RDO:0004892"^^xsd:string) AnnotationAssertion( "EFO:0009255"^^xsd:string) AnnotationAssertion( "MESH:D002430"^^xsd:string) AnnotationAssertion( "cecal neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003694"^^xsd:string) AnnotationAssertion(rdfs:label "Cecal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypercalciuria, Absorptive, 1) AnnotationAssertion( "MIM:607258"^^xsd:string) AnnotationAssertion( "MESH:C564600"^^xsd:string) AnnotationAssertion( "HCA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003695"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalciuria, Absorptive, 1"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia, Epilepsy, Mental Retardation) AnnotationAssertion( "MIM:182610"^^xsd:string) AnnotationAssertion( "MESH:C536869"^^xsd:string) AnnotationAssertion( "Spastic Paraplegia, Epilepsy, And Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003696"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia, Epilepsy, Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ALAGILLE SYNDROME 1) AnnotationAssertion(Annotation( "MIM:118450"^^xsd:string) "This disease is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-08T14:31:22Z"^^xsd:string) AnnotationAssertion( "MIM:118450"^^xsd:string) AnnotationAssertion( "MONDO:0016862"^^xsd:string) AnnotationAssertion( "ORDO:261619"^^xsd:string) AnnotationAssertion( "ALGS1"^^xsd:string) AnnotationAssertion( "Alagille syndrome due to a JAG1 point mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003698"^^xsd:string) AnnotationAssertion(rdfs:label "ALAGILLE SYNDROME 1"^^xsd:string) SubClassOf( ) # Class: (Colloid Cysts of Third Ventricle) AnnotationAssertion( "MIM:609363"^^xsd:string) AnnotationAssertion( "MESH:C535966"^^xsd:string) AnnotationAssertion( "Neuroepithelial cysts of third ventricle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003699"^^xsd:string) AnnotationAssertion(rdfs:label "Colloid Cysts of Third Ventricle"^^xsd:string) SubClassOf( ) # Class: (Tracheobronchomalacia) AnnotationAssertion(Annotation( "MESH:D055089"^^xsd:string) "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain."^^xsd:string) AnnotationAssertion( "GARD:7791"^^xsd:string) AnnotationAssertion( "MESH:D055089"^^xsd:string) AnnotationAssertion( "Chondromalacia of Trachea and Bronchi"^^xsd:string) AnnotationAssertion( "Tracheobronchomalacias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003700"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheobronchomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Autism and Dysmorphic Facies) AnnotationAssertion(Annotation( "MIM:620021"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Caused by homozygous mutation in the PDZD8 on chromosome 10q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T14:22:32Z"^^xsd:string) AnnotationAssertion( "MIM:620021"^^xsd:string) AnnotationAssertion( "IDDADF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003701"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Autism and Dysmorphic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate) AnnotationAssertion( "MIM:601420"^^xsd:string) AnnotationAssertion( "MESH:C537547"^^xsd:string) AnnotationAssertion( "Microcephaly, facial clefting, and preaxial polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003702"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Coxa Valga) AnnotationAssertion(Annotation( "MESH:D060906"^^xsd:string) "Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental."^^xsd:string) AnnotationAssertion( "MESH:D060906"^^xsd:string) AnnotationAssertion( "Acquired Coxa Valga"^^xsd:string) AnnotationAssertion( "Acquired Coxa Valgus"^^xsd:string) AnnotationAssertion( "Congenital Coxa Valga"^^xsd:string) AnnotationAssertion( "Congenital Coxa Valgas"^^xsd:string) AnnotationAssertion( "Congenital Coxa Valgus"^^xsd:string) AnnotationAssertion( "Coxa Valgas"^^xsd:string) AnnotationAssertion( "Coxa Valgus"^^xsd:string) AnnotationAssertion( "Developmental Coxa Valga"^^xsd:string) AnnotationAssertion( "Developmental Coxa Valgas"^^xsd:string) AnnotationAssertion( "acquired coxa valgas"^^xsd:string) AnnotationAssertion( "developmental coxa valgus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003703"^^xsd:string) AnnotationAssertion(rdfs:label "Coxa Valga"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies) AnnotationAssertion(Annotation( "MIM:618608"^^xsd:string) "A disease characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-11-12T13:42:22Z"^^xsd:string) AnnotationAssertion( "EFO:0010630"^^xsd:string) AnnotationAssertion( "MIM:618608"^^xsd:string) AnnotationAssertion( "IDNADFS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003704"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sick Sinus Syndrome 1, Autosomal Recessive) AnnotationAssertion( "MIM:608567"^^xsd:string) AnnotationAssertion( "MESH:C563907"^^xsd:string) AnnotationAssertion( "FAMILIAL SICK SINUS SYNDROME"^^xsd:string) AnnotationAssertion( "SSS1"^^xsd:string) AnnotationAssertion( "Sick Sinus Syndrome, Congenital"^^xsd:string) AnnotationAssertion( "Sinus Bradycardia Syndrome, Familial"^^xsd:string) AnnotationAssertion( "Sinus Node Disease, Familial, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "congenital absence of sinus rhythm"^^xsd:string) AnnotationAssertion( "sick sinus syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003705"^^xsd:string) AnnotationAssertion(rdfs:label "Sick Sinus Syndrome 1, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Zuska's Disease) AnnotationAssertion( "MESH:C536730"^^xsd:string) AnnotationAssertion( "Lactation and squamous metaplasia of lactiferous ducts"^^xsd:string) AnnotationAssertion( "Lactiferous fistula"^^xsd:string) AnnotationAssertion( "Zuska disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003706"^^xsd:string) AnnotationAssertion(rdfs:label "Zuska's Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Koilonychia) AnnotationAssertion( "RDO:0003063"^^xsd:string) AnnotationAssertion( "MESH:C537260"^^xsd:string) AnnotationAssertion( "congenital koilonychia"^^xsd:string) AnnotationAssertion( "familial koilonychia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003708"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Koilonychia"^^xsd:string) SubClassOf( ) # Class: (Mercury Poisoning) AnnotationAssertion(Annotation( "MESH:D008630"^^xsd:string) "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS."^^xsd:string) AnnotationAssertion( "EFO:1001810"^^xsd:string) AnnotationAssertion( "MESH:D008630"^^xsd:string) AnnotationAssertion( "RDO:0006113"^^xsd:string) AnnotationAssertion( "Mercury Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003709"^^xsd:string) AnnotationAssertion(rdfs:label "Mercury Poisoning"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 62) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-28T11:10:41Z"^^xsd:string) AnnotationAssertion( "MIM:618793"^^xsd:string) AnnotationAssertion( "MRD62"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 62"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 62"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003710"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 62"^^xsd:string) SubClassOf( ) # Class: (Steatorrhea) AnnotationAssertion( "A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-21T07:31:12Z"^^xsd:string) AnnotationAssertion( "DOID:10602"^^xsd:string) AnnotationAssertion( "MESH:D045602"^^xsd:string) AnnotationAssertion( "NCI:C86917"^^xsd:string) AnnotationAssertion( "Fatty stool"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003711"^^xsd:string) AnnotationAssertion(rdfs:label "Steatorrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MERRF/MELAS Overlap Syndrome) AnnotationAssertion( "A mitochondrial encephalomyopathy which features symptoms of either MERFF or MELAS Syndrome or both."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003712"^^xsd:string) AnnotationAssertion(rdfs:label "MERRF/MELAS Overlap Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS105550"^^xsd:string) AnnotationAssertion( "ALSFTD"^^xsd:string) AnnotationAssertion( "CORTICOBASAL SYNDROME"^^xsd:string) AnnotationAssertion( "FTDALS"^^xsd:string) AnnotationAssertion( "FTDMND"^^xsd:string) AnnotationAssertion( "frontotemporal dementia and/or motor neuron disease"^^xsd:string) AnnotationAssertion( "frontotemporal dementia with motor neuron disease"^^xsd:string) AnnotationAssertion( "frontotemporal dementia-amyotrophic lateral sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003713"^^xsd:string) AnnotationAssertion(rdfs:label "Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Implant Capsular Contracture) AnnotationAssertion(Annotation( "MESH:D057910"^^xsd:string) "The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues."^^xsd:string) AnnotationAssertion( "MESH:D057910"^^xsd:string) AnnotationAssertion( "RDO:0007806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003714"^^xsd:string) AnnotationAssertion(rdfs:label "Implant Capsular Contracture"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukocyte Nuclear Appendages, Hereditary Prevalence of) AnnotationAssertion( "MIM:151500"^^xsd:string) AnnotationAssertion( "MESH:C563626"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003715"^^xsd:string) AnnotationAssertion(rdfs:label "Leukocyte Nuclear Appendages, Hereditary Prevalence of"^^xsd:string) SubClassOf( ) # Class: (Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia) AnnotationAssertion( "MIM:619248"^^xsd:string) AnnotationAssertion( "MESH:C565179"^^xsd:string) AnnotationAssertion( "VPED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003716"^^xsd:string) AnnotationAssertion(rdfs:label "Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nonischemic cardiomyopathy) AnnotationAssertion(Annotation( "EFO:0009881"^^xsd:string) "This is a form of cardiomyopathy that is are not related to known coronary artery disease."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-13T10:40:48Z"^^xsd:string) AnnotationAssertion( "EFO:0009881"^^xsd:string) AnnotationAssertion( "NICM"^^xsd:string) AnnotationAssertion( "non-ischemic cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003717"^^xsd:string) AnnotationAssertion(rdfs:label "nonischemic cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (Marchiafava-Bignami Disease) AnnotationAssertion(Annotation( "MESH:D054319"^^xsd:string) "A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well."^^xsd:string) AnnotationAssertion( "EFO:1001809"^^xsd:string) AnnotationAssertion( "MESH:D054319"^^xsd:string) AnnotationAssertion( "RDO:0007669"^^xsd:string) AnnotationAssertion( "Marchiafava Bignami Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003718"^^xsd:string) AnnotationAssertion(rdfs:label "Marchiafava-Bignami Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Vitiligo with Mental Retardation and Urethral Duplication) AnnotationAssertion( "MIM:277465"^^xsd:string) AnnotationAssertion( "MESH:C564739"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003719"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Vitiligo with Mental Retardation and Urethral Duplication"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myopia 14) AnnotationAssertion( "MIM:610320"^^xsd:string) AnnotationAssertion( "MESH:C565202"^^xsd:string) AnnotationAssertion( "MYP14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003720"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 14"^^xsd:string) SubClassOf( ) # Class: (Wis Heavy-Chain Disease Protein, Human) AnnotationAssertion( "MESH:C483997"^^xsd:string) AnnotationAssertion( "RDO:0000006"^^xsd:string) AnnotationAssertion( "gamma 3 heavy-chain disease protein WIS, human"^^xsd:string) AnnotationAssertion( "myeloma protein Wis, human"^^xsd:string) AnnotationAssertion( "protein WIS, human"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003721"^^xsd:string) AnnotationAssertion(rdfs:label "Wis Heavy-Chain Disease Protein, Human"^^xsd:string) SubClassOf( ) # Class: (Bronchial Fistula) AnnotationAssertion(Annotation( "MESH:D001983"^^xsd:string) "An abnormal passage or communication between a bronchus and another part of the body."^^xsd:string) AnnotationAssertion( "MESH:D001983"^^xsd:string) AnnotationAssertion( "Bronchial Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003722"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchial Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vesicoureteral Reflux 8) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "TNXB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615963"^^xsd:string) AnnotationAssertion( "VUR8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003723"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 8"^^xsd:string) SubClassOf( ) # Class: (Granulovacuolar Lobular Myopathy with Electrical Myotonia) AnnotationAssertion( "MIM:254950"^^xsd:string) AnnotationAssertion( "MESH:C564974"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003724"^^xsd:string) AnnotationAssertion(rdfs:label "Granulovacuolar Lobular Myopathy with Electrical Myotonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Polythelia) AnnotationAssertion( "MIM:163700"^^xsd:string) AnnotationAssertion( "MESH:C562557"^^xsd:string) AnnotationAssertion( "Accessory Nipples"^^xsd:string) AnnotationAssertion( "Polymastia"^^xsd:string) AnnotationAssertion( "Supernumerary Nipples"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003725"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Polythelia"^^xsd:string) SubClassOf( ) # Class: (Corneal Hypesthesia, Familial) AnnotationAssertion( "MIM:122450"^^xsd:string) AnnotationAssertion( "MESH:C536440"^^xsd:string) AnnotationAssertion( "Trigeminal anesthesia, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003726"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Hypesthesia, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Shashi-Pena Syndrome) AnnotationAssertion(Annotation( "MIM:617190"^^xsd:string) "A neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617190"^^xsd:string) AnnotationAssertion( "SHAPNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003728"^^xsd:string) AnnotationAssertion(rdfs:label "Shashi-Pena Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pruritic Urticarial Papules Plaques of Pregnancy) AnnotationAssertion( "MIM:178995"^^xsd:string) AnnotationAssertion( "MESH:C535817"^^xsd:string) AnnotationAssertion( "Polymorphic eruption of pregnancy"^^xsd:string) AnnotationAssertion( "Pruritic Urticarial Papules And Plaques of Pregnancy"^^xsd:string) AnnotationAssertion( "Pruritic urticarial papules and plaques of pregnancy, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003729"^^xsd:string) AnnotationAssertion(rdfs:label "Pruritic Urticarial Papules Plaques of Pregnancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chemical Burns) AnnotationAssertion(Annotation( "MESH:D002057"^^xsd:string) "Burns caused by contact with or exposure to CAUSTICS or strong ACIDS."^^xsd:string) AnnotationAssertion( "EFO:0009503"^^xsd:string) AnnotationAssertion( "MESH:D002057"^^xsd:string) AnnotationAssertion( "Chemical Burn"^^xsd:string) AnnotationAssertion( "caustic injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003730"^^xsd:string) AnnotationAssertion(rdfs:label "Chemical Burns"^^xsd:string) SubClassOf( ) # Class: (Martinez Monasterio Pinheiro Syndrome) AnnotationAssertion( "MESH:C536027"^^xsd:string) AnnotationAssertion( "Cleft lip-palate-oligodontia-syndactyly-hair alterations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003731"^^xsd:string) AnnotationAssertion(rdfs:label "Martinez Monasterio Pinheiro Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Moderate Neural Deafness) AnnotationAssertion( "MIM:221500"^^xsd:string) AnnotationAssertion( "MESH:C565640"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003732"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Moderate Neural Deafness"^^xsd:string) SubClassOf( ) # Class: (Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency) AnnotationAssertion( "MIM:201910"^^xsd:string) AnnotationAssertion( "MESH:C535979"^^xsd:string) AnnotationAssertion( "NCI:C129302"^^xsd:string) AnnotationAssertion( "21 alpha hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "21 hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "Attenuated congenital adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "CYP21 deficiency"^^xsd:string) AnnotationAssertion( "CYP21A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LOCAH"^^xsd:string) AnnotationAssertion( "Late-onset congenital adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "NCCAH"^^xsd:string) AnnotationAssertion( "adrenal gland hyperplasia III"^^xsd:string) AnnotationAssertion( "adrenal hyperplasia III"^^xsd:string) AnnotationAssertion( "non classic congenital adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING"^^xsd:string) AnnotationAssertion( "CONGENITAL ADRENAL HYPERPLASIA 1"^^xsd:string) AnnotationAssertion( "cortisol-producing adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003733"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Vesicoureteral Reflux 2) AnnotationAssertion( "MIM:610878"^^xsd:string) AnnotationAssertion( "MESH:C567053"^^xsd:string) AnnotationAssertion( "ROBO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VUR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003734"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 2"^^xsd:string) SubClassOf( ) # Class: (Splenic Hypoplasia) AnnotationAssertion( "MIM:271400"^^xsd:string) AnnotationAssertion( "MESH:C563028"^^xsd:string) AnnotationAssertion( "Asplenia"^^xsd:string) AnnotationAssertion( "Familial Asplenia"^^xsd:string) AnnotationAssertion( "ICAS"^^xsd:string) AnnotationAssertion( "Isolated Congenital Asplenia"^^xsd:string) AnnotationAssertion( "Isolated Congenital Hyposplenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003735"^^xsd:string) AnnotationAssertion(rdfs:label "Splenic Hypoplasia"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Viral Diseases) AnnotationAssertion(Annotation( "MESH:D020805"^^xsd:string) "Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces."^^xsd:string) AnnotationAssertion( "MESH:D020805"^^xsd:string) AnnotationAssertion( "Central Nervous System Viral Infections"^^xsd:string) AnnotationAssertion( "Viral CNS Infection"^^xsd:string) AnnotationAssertion( "Viral CNS Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003736"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Viral Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ascorbic Acid Deficiency) AnnotationAssertion(Annotation( "MESH:D001206"^^xsd:string) "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)"^^xsd:string) AnnotationAssertion( "EFO:1000822"^^xsd:string) AnnotationAssertion( "MESH:D001206"^^xsd:string) AnnotationAssertion( "Ascorbic Acid Deficiencies"^^xsd:string) AnnotationAssertion( "Vitamin C Deficiencies"^^xsd:string) AnnotationAssertion( "Vitamin C Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003737"^^xsd:string) AnnotationAssertion(rdfs:label "Ascorbic Acid Deficiency"^^xsd:string) SubClassOf( ) # Class: (Familial Vocal Cord Dysfunction) AnnotationAssertion( "MIM:150260"^^xsd:string) AnnotationAssertion( "MIM:308850"^^xsd:string) AnnotationAssertion( "MESH:C536354"^^xsd:string) AnnotationAssertion( "Gerhardt syndrome"^^xsd:string) AnnotationAssertion( "Plott syndrome"^^xsd:string) AnnotationAssertion( "laryngeal abductor paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003738"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Vocal Cord Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick Disease Type D) AnnotationAssertion( "MIM:257220"^^xsd:string) AnnotationAssertion( "NPC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564941"^^xsd:string) AnnotationAssertion( "Niemann Pick Disease, Nova Scotian"^^xsd:string) AnnotationAssertion( "Niemann Pick's Disease Type D"^^xsd:string) AnnotationAssertion( "Niemann-Pick Disease, Nova Scotian Type"^^xsd:string) AnnotationAssertion( "Nova Scotia Niemann Pick Disease (Type D)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003739"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick Disease Type D"^^xsd:string) SubClassOf( ) # Class: (Nerve Injuries) AnnotationAssertion( "Dysfunction of a nerve causally related to a traumatic injury."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2010-08-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "nerve injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003740"^^xsd:string) AnnotationAssertion(rdfs:label "Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 83) AnnotationAssertion(Annotation( "MIM:619808"^^xsd:string) "Characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. Caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. One such family has been reported."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T09:45:19Z"^^xsd:string) AnnotationAssertion( "MAP1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619808"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL DOMINANT 83"^^xsd:string) AnnotationAssertion( "DFNA83"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003741"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 83"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 14) AnnotationAssertion( "MIM:611958"^^xsd:string) AnnotationAssertion( "MESH:C567448"^^xsd:string) AnnotationAssertion( "HPC14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003742"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 14"^^xsd:string) SubClassOf( ) # Class: (Septic Abortions) AnnotationAssertion(Annotation( "MESH:D000031"^^xsd:string) "Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge."^^xsd:string) AnnotationAssertion( "EFO:1001177"^^xsd:string) AnnotationAssertion( "MESH:D000031"^^xsd:string) AnnotationAssertion( "septic abortion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003743"^^xsd:string) AnnotationAssertion(rdfs:label "Septic Abortions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Tract Neoplasms) AnnotationAssertion(Annotation( "MESH:D012142"^^xsd:string) "New abnormal growth of tissue in the RESPIRATORY SYSTEM."^^xsd:string) AnnotationAssertion( "EFO:0003853"^^xsd:string) AnnotationAssertion( "MESH:D012142"^^xsd:string) AnnotationAssertion( "Respiratory Tract Neoplasm"^^xsd:string) AnnotationAssertion( "respiratory system neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003744"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Tract Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Enteropathy-Associated T-Cell Lymphoma) AnnotationAssertion(Annotation( "MESH:D058527"^^xsd:string) "A primary peripheral T-cell lymphoma in the gastrointestinal tract, most often in the jejunum, associated with a history of CELIAC DISEASE or other gastrointestinal diseases."^^xsd:string) AnnotationAssertion( "EFO:1000535"^^xsd:string) AnnotationAssertion( "MESH:D058527"^^xsd:string) AnnotationAssertion( "Enteropathy-Associated T-Cell Lymphomas"^^xsd:string) AnnotationAssertion( "Small Intestinal Enteropathy-Associated T-Cell Lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003745"^^xsd:string) AnnotationAssertion(rdfs:label "Enteropathy-Associated T-Cell Lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Monophalangy of Great Toe) AnnotationAssertion( "MIM:158100"^^xsd:string) AnnotationAssertion( "MESH:C563570"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003747"^^xsd:string) AnnotationAssertion(rdfs:label "Monophalangy of Great Toe"^^xsd:string) SubClassOf( ) # Class: (Thumb Deformity) AnnotationAssertion( "MIM:188100"^^xsd:string) AnnotationAssertion( "MESH:C536903"^^xsd:string) AnnotationAssertion( "thumb absent or hypoplastic"^^xsd:string) AnnotationAssertion( "thumb hypoplastic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003748"^^xsd:string) AnnotationAssertion(rdfs:label "Thumb Deformity"^^xsd:string) SubClassOf( ) # Class: (Sick Sinus Syndrome 2, Autosomal Dominant) AnnotationAssertion( "MIM:163800"^^xsd:string) AnnotationAssertion( "MESH:C563513"^^xsd:string) AnnotationAssertion( "SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION"^^xsd:string) AnnotationAssertion( "SSS2"^^xsd:string) AnnotationAssertion( "Sinus Bradycardia Syndrome, Familial, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Sinus Node Disease, Familial, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "atrial fibrillation with bradyarrhythmia"^^xsd:string) AnnotationAssertion( "sick sinus syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003749"^^xsd:string) AnnotationAssertion(rdfs:label "Sick Sinus Syndrome 2, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Tetrasomy 15q26) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-16T12:58:23Z"^^xsd:string) AnnotationAssertion( "MIM:614846"^^xsd:string) AnnotationAssertion( "LEVY-SHANSKE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003750"^^xsd:string) AnnotationAssertion(rdfs:label "Tetrasomy 15q26"^^xsd:string) SubClassOf( ) # Class: (CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM) AnnotationAssertion(Annotation( "MIM:619761"^^xsd:string) "This disease is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-10T14:30:28Z"^^xsd:string) AnnotationAssertion( "PRDM13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619761"^^xsd:string) AnnotationAssertion( "CDIDHH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003751"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Persistent Truncus Arteriosus) AnnotationAssertion(Annotation( "MESH:D014339"^^xsd:string) "A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect."^^xsd:string) AnnotationAssertion( "MESH:D014339"^^xsd:string) AnnotationAssertion( "NCI:C98880"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003752"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Truncus Arteriosus"^^xsd:string) SubClassOf( ) # Class: (Ureteral Neoplasms) AnnotationAssertion(Annotation( "MESH:D014516"^^xsd:string) "Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom."^^xsd:string) AnnotationAssertion( "EFO:0003844"^^xsd:string) AnnotationAssertion( "MESH:D014516"^^xsd:string) AnnotationAssertion( "Neoplasms of Ureter"^^xsd:string) AnnotationAssertion( "Ureter Neoplasm"^^xsd:string) AnnotationAssertion( "Ureter Neoplasms"^^xsd:string) AnnotationAssertion( "Ureteral Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003753"^^xsd:string) AnnotationAssertion(rdfs:label "Ureteral Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:620166"^^xsd:string) "This disease is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-28T17:18:40Z"^^xsd:string) AnnotationAssertion( "MIM:620166"^^xsd:string) AnnotationAssertion( "MYOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003754"^^xsd:string) AnnotationAssertion(rdfs:label "MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) # Class: (Diffuse Neurofibrillary Tangles with Calcification) AnnotationAssertion(Annotation( "MESH:D055956"^^xsd:string) "A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr's type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE."^^xsd:string) AnnotationAssertion( "MESH:D055956"^^xsd:string) AnnotationAssertion( "Kosaka Shibayama Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003755"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Neurofibrillary Tangles with Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Achondrogenesis, Type 4) AnnotationAssertion( "MESH:C536019"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003757"^^xsd:string) AnnotationAssertion(rdfs:label "Achondrogenesis, Type 4"^^xsd:string) SubClassOf( ) # Class: (Banti's Syndrome) AnnotationAssertion( "GARD:5888"^^xsd:string) AnnotationAssertion( "MONDO:0021969"^^xsd:string) AnnotationAssertion( "Banti's disease"^^xsd:string) AnnotationAssertion( "Idiopathic congestive splenomegaly"^^xsd:string) AnnotationAssertion( "Idiopathic portal hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003758"^^xsd:string) AnnotationAssertion(rdfs:label "Banti's Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebral Hemorrhage, Traumatic) AnnotationAssertion(Annotation( "MESH:D020202"^^xsd:string) "Bleeding into one or both CEREBRAL HEMISPHERES due to TRAUMA. Hemorrhage may involve any part of the CEREBRAL CORTEX and the BASAL GANGLIA. Depending on the severity of bleeding, clinical features may include SEIZURES; APHASIA; VISION DISORDERS; MOVEMENT DISORDERS; PARALYSIS; and COMA."^^xsd:string) AnnotationAssertion( "MESH:D020202"^^xsd:string) AnnotationAssertion( "RDO:0007342"^^xsd:string) AnnotationAssertion( "Brain Hemorrhage, Cerebral, Traumatic"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Hematoma"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Hematomas"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Hemorrhages"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Intraparenchymal Hematoma"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Intraparenchymal Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Cerebral Parenchymal Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Intracerebral Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Intracerebral Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003759"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Hemorrhage, Traumatic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myalgia) AnnotationAssertion(Annotation( "MESH:D063806"^^xsd:string) "Painful sensation in the muscles."^^xsd:string) AnnotationAssertion( "MESH:D063806"^^xsd:string) AnnotationAssertion( "Muscle Pain"^^xsd:string) AnnotationAssertion( "Muscle Pains"^^xsd:string) AnnotationAssertion( "Muscle Soreness"^^xsd:string) AnnotationAssertion( "Muscle Tenderness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003760"^^xsd:string) AnnotationAssertion(rdfs:label "Myalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Defect in Hydroxylation of Diphenylhydantoin) AnnotationAssertion( "MESH:C565044"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003761"^^xsd:string) AnnotationAssertion(rdfs:label "Defect in Hydroxylation of Diphenylhydantoin"^^xsd:string) SubClassOf( ) # Class: (IgG2 Deficiency) AnnotationAssertion( "A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G2."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-05-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001177"^^xsd:string) AnnotationAssertion( "Igg2 deficiency, selective"^^xsd:string) AnnotationAssertion( "immunoglobulin IgG2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003762"^^xsd:string) AnnotationAssertion(rdfs:label "IgG2 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Renal Hypodysplasia/Aplasia 1) AnnotationAssertion( "This disease falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT)."^^xsd:string) AnnotationAssertion( "HRA"^^xsd:string) AnnotationAssertion( "RENAL ADYSPLASIA"^^xsd:string) AnnotationAssertion( "RENAL AGENESIS AND HYPODYSPLASIA"^^xsd:string) AnnotationAssertion( "RENAL APLASIA"^^xsd:string) AnnotationAssertion( "MIM:191830"^^xsd:string) AnnotationAssertion( "RHDA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003763"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypodysplasia/Aplasia 1"^^xsd:string) SubClassOf( ) # Class: (Krasnow Qazi Syndrome) AnnotationAssertion( "MESH:C537616"^^xsd:string) AnnotationAssertion( "Krasnow Qazi Yermakov syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003764"^^xsd:string) AnnotationAssertion(rdfs:label "Krasnow Qazi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Complex and Mixed Neoplasms) AnnotationAssertion(Annotation( "MESH:D018193"^^xsd:string) "Neoplasms composed of more than one type of neoplastic tissue."^^xsd:string) AnnotationAssertion( "MESH:D018193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003765"^^xsd:string) AnnotationAssertion(rdfs:label "Complex and Mixed Neoplasms"^^xsd:string) SubClassOf( ) # Class: (46, XY Disorders of Sex Development) AnnotationAssertion(Annotation( "MESH:D058490"^^xsd:string) "Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical."^^xsd:string) AnnotationAssertion( "MESH:D058490"^^xsd:string) AnnotationAssertion( "46,XY DSD"^^xsd:string) AnnotationAssertion( "Disorder of Sex Development, 46,XY"^^xsd:string) AnnotationAssertion( "Male Pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "Male Pseudohermaphroditisms"^^xsd:string) AnnotationAssertion( "DSD INCOMPLETE VIRILIZATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003766"^^xsd:string) AnnotationAssertion(rdfs:label "46, XY Disorders of Sex Development"^^xsd:string) SubClassOf( ) # Class: (Viral Sexually Transmitted Diseases) AnnotationAssertion(Annotation( "MESH:D015229"^^xsd:string) "Viral diseases which are transmitted or propagated by sexual conduct."^^xsd:string) AnnotationAssertion( "MESH:D015229"^^xsd:string) AnnotationAssertion( "RDO:0005252"^^xsd:string) AnnotationAssertion( "Viral Sexually Transmitted Disease"^^xsd:string) AnnotationAssertion( "Viral Venereal Disease"^^xsd:string) AnnotationAssertion( "Viral Venereal Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003767"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Sexually Transmitted Diseases"^^xsd:string) SubClassOf( ) # Class: (Mirror Movements 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618264"^^xsd:string) AnnotationAssertion( "MRMV4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003768"^^xsd:string) AnnotationAssertion(rdfs:label "Mirror Movements 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Patterson Stevenson Syndrome) AnnotationAssertion( "MIM:183700"^^xsd:string) AnnotationAssertion( "MIM:190605"^^xsd:string) AnnotationAssertion( "MESH:C536311"^^xsd:string) AnnotationAssertion( "Patterson Stevenson Fontaine syndrome"^^xsd:string) AnnotationAssertion( "Split-Foot Deformity With Mandibulofacial Dysostosis"^^xsd:string) AnnotationAssertion( "Split-foot deformity with ectrodactyly and mandibulofacial dysostosis"^^xsd:string) AnnotationAssertion( "TPT and PSD syndrome"^^xsd:string) AnnotationAssertion( "TPTPS"^^xsd:string) AnnotationAssertion( "Triphalangeal Thumb-Polydactyly Syndrome"^^xsd:string) AnnotationAssertion( "Triphalangeal thumb polysyndactyly syndrome"^^xsd:string) AnnotationAssertion( "polydactyly of triphalangeal thumb"^^xsd:string) AnnotationAssertion( "triphalangeal thumb with polysyndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003769"^^xsd:string) AnnotationAssertion(rdfs:label "Patterson Stevenson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retrocaval Ureter) AnnotationAssertion(Annotation( "MESH:D064749"^^xsd:string) "A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA."^^xsd:string) AnnotationAssertion( "MESH:D064749"^^xsd:string) AnnotationAssertion( "RDO:0015839"^^xsd:string) AnnotationAssertion( "Circumcaval Ureter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003770"^^xsd:string) AnnotationAssertion(rdfs:label "Retrocaval Ureter"^^xsd:string) SubClassOf( ) # Class: (Acromesomelic Dysplasia, Campailla-Martinelli Type) AnnotationAssertion( "GARD:505"^^xsd:string) AnnotationAssertion( "MESH:C535659"^^xsd:string) AnnotationAssertion( "mesomelic dwarfism Campailla-Martinelli type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003771"^^xsd:string) AnnotationAssertion(rdfs:label "Acromesomelic Dysplasia, Campailla-Martinelli Type"^^xsd:string) SubClassOf( ) # Class: (Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence) AnnotationAssertion( "MIM:609612"^^xsd:string) AnnotationAssertion( "MESH:C566508"^^xsd:string) AnnotationAssertion( "ORDO:45358"^^xsd:string) AnnotationAssertion( "Congenital Fibrosis Syndrome with Synergistic Divergence"^^xsd:string) AnnotationAssertion( "External Ophthalmoplegia with Synergistic Divergence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003772"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence"^^xsd:string) SubClassOf( ) # Class: (Upper Extremity Deep Vein Thrombosis) AnnotationAssertion(Annotation( "MESH:D056824"^^xsd:string) "DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm."^^xsd:string) AnnotationAssertion( "MESH:D056824"^^xsd:string) AnnotationAssertion( "RDO:0007760"^^xsd:string) AnnotationAssertion( "Central Venous Catheter Thrombosis"^^xsd:string) AnnotationAssertion( "Effort Induced Upper Extremity Deep Vein Thrombosis"^^xsd:string) AnnotationAssertion( "Effort Related Upper Extremity Deep Vein Thrombosis"^^xsd:string) AnnotationAssertion( "Exercise Induced Upper Extremity Deep Vein Thrombosis"^^xsd:string) AnnotationAssertion( "Idiopathic Upper Extremity Deep Vein Thrombosis"^^xsd:string) AnnotationAssertion( "Paget Schroetter Syndrome"^^xsd:string) AnnotationAssertion( "Upper Extremity Deep Vein Thrombosis, Primary"^^xsd:string) AnnotationAssertion( "Upper Extremity Deep Vein Thrombosis, Secondary"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003773"^^xsd:string) AnnotationAssertion(rdfs:label "Upper Extremity Deep Vein Thrombosis"^^xsd:string) SubClassOf( ) # Class: (Familial Visceral Neuropathy 2, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:619465"^^xsd:string) "This disease is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-11-02T11:42:02Z"^^xsd:string) AnnotationAssertion( "MIM:619465"^^xsd:string) AnnotationAssertion( "VSCN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003774"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Visceral Neuropathy 2, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 11p Deletion Syndrome) AnnotationAssertion( "DOID:9001825"^^xsd:string) AnnotationAssertion( "MESH:C538293"^^xsd:string) AnnotationAssertion( "MESH:C541598"^^xsd:string) AnnotationAssertion( "11p Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 11, Deletion 11p"^^xsd:string) AnnotationAssertion( "Deletion 11p"^^xsd:string) AnnotationAssertion( "Monosomy 11p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003775"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 11p Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency due to Defect in MAPBP-Interacting Protein) AnnotationAssertion( "MIM:610798"^^xsd:string) AnnotationAssertion( "MESH:C563663"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003777"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency due to Defect in MAPBP-Interacting Protein"^^xsd:string) SubClassOf( ) # Class: (Eosinophilic Pustular Folliculitis) AnnotationAssertion( "MESH:C535953"^^xsd:string) AnnotationAssertion( "RDO:0001338"^^xsd:string) AnnotationAssertion( "Ofuji disease"^^xsd:string) AnnotationAssertion( "Ofuji's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003778"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Pustular Folliculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vasculitis of the Skin) AnnotationAssertion( "Inflammation of the blood vessels in the skin."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001235"^^xsd:string) AnnotationAssertion( "Cutaneous vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003779"^^xsd:string) AnnotationAssertion(rdfs:label "Vasculitis of the Skin"^^xsd:string) SubClassOf( ) # Class: (Split-Hand/Foot Malformation with Long Bone Deficiency 2) AnnotationAssertion( "MIM:610685"^^xsd:string) AnnotationAssertion( "RDO:0013910"^^xsd:string) AnnotationAssertion( "MESH:C565199"^^xsd:string) AnnotationAssertion( "SHFLD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003780"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Hand/Foot Malformation with Long Bone Deficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ossification of Posterior Longitudinal Ligament) AnnotationAssertion(Annotation( "MESH:D017887"^^xsd:string) "A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. It is often associated with anterior ankylosing hyperostosis."^^xsd:string) AnnotationAssertion( "MESH:D017887"^^xsd:string) AnnotationAssertion( "NCI:C84975"^^xsd:string) AnnotationAssertion( "Calcification of Posterior Longitudinal Ligament"^^xsd:string) AnnotationAssertion( "Posterior Longitudinal Ligament Calcification"^^xsd:string) AnnotationAssertion( "Posterior Longitudinal Ligament Ossification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003781"^^xsd:string) AnnotationAssertion(rdfs:label "Ossification of Posterior Longitudinal Ligament"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Transient Tachypnea of the Newborn) AnnotationAssertion(Annotation( "MESH:D059245"^^xsd:string) "Abnormal increase in RESPIRATORY RATE in the newborn. It is self-limiting and attributed to the delayed fetal lung fluid clearance often in CAESAREAN SECTION delivery."^^xsd:string) AnnotationAssertion( "MESH:D059245"^^xsd:string) AnnotationAssertion( "RDO:0009999"^^xsd:string) AnnotationAssertion( "Newborn Transient Tachypnea"^^xsd:string) AnnotationAssertion( "Newborn Transient Tachypneas"^^xsd:string) AnnotationAssertion( "Transient Tachypnea of Newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003782"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Tachypnea of the Newborn"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) AnnotationAssertion( "MIM:246570"^^xsd:string) AnnotationAssertion( "MESH:C565436"^^xsd:string) AnnotationAssertion( "Fatco syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003783"^^xsd:string) AnnotationAssertion(rdfs:label "Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Uncombable Hair Syndrome 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617252"^^xsd:string) AnnotationAssertion( "UHS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003784"^^xsd:string) AnnotationAssertion(rdfs:label "Uncombable Hair Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Fibromuscular Dysplasia) AnnotationAssertion(Annotation( "MESH:D005352"^^xsd:string) "An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity."^^xsd:string) AnnotationAssertion( "DOID:9003839"^^xsd:string) AnnotationAssertion( "MIM:135580"^^xsd:string) AnnotationAssertion( "EFO:1000938"^^xsd:string) AnnotationAssertion( "MESH:D005352"^^xsd:string) AnnotationAssertion( "NCI:C84714"^^xsd:string) AnnotationAssertion( "arterial fibromuscular dysplasia"^^xsd:string) AnnotationAssertion( "fibromuscular dysplasia of arteries"^^xsd:string) AnnotationAssertion( "fibromuscular dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003785"^^xsd:string) AnnotationAssertion(rdfs:label "Fibromuscular Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Equine Infectious Anemia) AnnotationAssertion(Annotation( "MESH:D004859"^^xsd:string) "Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions."^^xsd:string) AnnotationAssertion( "EFO:0007263"^^xsd:string) AnnotationAssertion( "MESH:D004859"^^xsd:string) AnnotationAssertion( "RDO:0005516"^^xsd:string) AnnotationAssertion( "Equine Infectious Anemias"^^xsd:string) AnnotationAssertion( "Swamp Fever"^^xsd:string) AnnotationAssertion( "Swamp Fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003786"^^xsd:string) AnnotationAssertion(rdfs:label "Equine Infectious Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lipoid Congenital Adrenal Hyperplasia) AnnotationAssertion( "This disease is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy."^^xsd:string) AnnotationAssertion( "MIM:201710"^^xsd:string) AnnotationAssertion( "RDO:0002781"^^xsd:string) AnnotationAssertion( "MESH:C537027"^^xsd:string) AnnotationAssertion( "Adrenal hyperplasia 1"^^xsd:string) AnnotationAssertion( "LCAH"^^xsd:string) AnnotationAssertion( "LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM"^^xsd:string) AnnotationAssertion( "STAR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003787"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoid Congenital Adrenal Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immune Deficiency, Familial Variable) AnnotationAssertion( "MIM:146830"^^xsd:string) AnnotationAssertion( "MESH:C564136"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003788"^^xsd:string) AnnotationAssertion(rdfs:label "Immune Deficiency, Familial Variable"^^xsd:string) SubClassOf( ) # Class: (Odontochondrodysplasia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-11T08:18:18Z"^^xsd:string) AnnotationAssertion( "MIM:PS184260"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003789"^^xsd:string) AnnotationAssertion(rdfs:label "Odontochondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Posttransfusion Purpura) AnnotationAssertion( "MIM:173470"^^xsd:string) AnnotationAssertion( "MESH:C562868"^^xsd:string) AnnotationAssertion( "RDO:0012402"^^xsd:string) AnnotationAssertion( "PTP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:9003790"^^xsd:string) AnnotationAssertion(rdfs:label "Posttransfusion Purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Monosomy 3p) AnnotationAssertion( "MESH:C536804"^^xsd:string) AnnotationAssertion( "Chromosome 3, deletion 3p"^^xsd:string) AnnotationAssertion( "Deletion 3p"^^xsd:string) AnnotationAssertion( "Monosomy 3p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003791"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3p"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dupuytren Contracture) AnnotationAssertion(Annotation( "MESH:D004387"^^xsd:string) "A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50."^^xsd:string) AnnotationAssertion( "MIM:126900"^^xsd:string) AnnotationAssertion( "EFO:0004229"^^xsd:string) AnnotationAssertion( "EFO:1000438"^^xsd:string) AnnotationAssertion( "MESH:D004387"^^xsd:string) AnnotationAssertion( "Dupuytren Disease"^^xsd:string) AnnotationAssertion( "Dupuytren's Contracture"^^xsd:string) AnnotationAssertion( "Dupuytren's Disease"^^xsd:string) AnnotationAssertion( "Dupuytrens Contracture"^^xsd:string) AnnotationAssertion( "Dupuytrens Disease"^^xsd:string) AnnotationAssertion( "Palmar Fibromatosis"^^xsd:string) AnnotationAssertion( "PLANTAR FIBROMAS"^^xsd:string) AnnotationAssertion( "PLANTAR FIBROMATOSIS, FAMILIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003793"^^xsd:string) AnnotationAssertion(rdfs:label "Dupuytren Contracture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (T Cell Immunodeficiency Primary) AnnotationAssertion( "MESH:C536780"^^xsd:string) AnnotationAssertion( "Primary T-Cell Immunodeficiency Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003794"^^xsd:string) AnnotationAssertion(rdfs:label "T Cell Immunodeficiency Primary"^^xsd:string) SubClassOf( ) # Class: (Isolated Osteopoikilosis) AnnotationAssertion( "RDO:0012729"^^xsd:string) AnnotationAssertion( "MESH:C563484"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003795"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Osteopoikilosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (T-Cell OKT4 Deficiency) AnnotationAssertion( "MIM:613949"^^xsd:string) AnnotationAssertion( "MESH:C566080"^^xsd:string) AnnotationAssertion( "OKT4 epitope deficiency"^^xsd:string) AnnotationAssertion( "OKT4D"^^xsd:string) AnnotationAssertion( "T4 epitope deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003796"^^xsd:string) AnnotationAssertion(rdfs:label "T-Cell OKT4 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, I) AnnotationAssertion( "MIM:609745"^^xsd:string) AnnotationAssertion( "MESH:C565724"^^xsd:string) AnnotationAssertion( "GLC1I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003797"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, I"^^xsd:string) SubClassOf( ) # Class: (Paine Syndrome) AnnotationAssertion( "MIM:311400"^^xsd:string) AnnotationAssertion( "MESH:C538101"^^xsd:string) AnnotationAssertion( "Microcephaly with spastic diplegia"^^xsd:string) AnnotationAssertion( "Seemanova Syndrome I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003798"^^xsd:string) AnnotationAssertion(rdfs:label "Paine Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract Microcornea Syndrome) AnnotationAssertion( "MESH:C538287"^^xsd:string) AnnotationAssertion( "RDO:0004249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003799"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract Microcornea Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Yersinia Infections) AnnotationAssertion(Annotation( "MESH:D015009"^^xsd:string) "Infections with bacteria of the genus YERSINIA."^^xsd:string) AnnotationAssertion( "EFO:1001245"^^xsd:string) AnnotationAssertion( "MESH:D015009"^^xsd:string) AnnotationAssertion( "Yersinia Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003800"^^xsd:string) AnnotationAssertion(rdfs:label "Yersinia Infections"^^xsd:string) SubClassOf( ) # Class: (Elliptocytosis 3) AnnotationAssertion( "MIM:617948"^^xsd:string) AnnotationAssertion( "OMIA:001318"^^xsd:string) AnnotationAssertion( "SPTB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566678"^^xsd:string) AnnotationAssertion( "EL3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Spectrin rouen"^^xsd:string) AnnotationAssertion( "fatal or near-fatal perinatal hemolytic anemia"^^xsd:string) AnnotationAssertion( "spectrin Providence"^^xsd:string) AnnotationAssertion( "DOID:9003801"^^xsd:string) AnnotationAssertion(rdfs:label "Elliptocytosis 3"^^xsd:string) SubClassOf( ) # Class: (Dursun Syndrome) AnnotationAssertion( "RDO:0015746"^^xsd:string) AnnotationAssertion( "MESH:C567804"^^xsd:string) AnnotationAssertion( "Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003802"^^xsd:string) AnnotationAssertion(rdfs:label "Dursun Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retinitis Pigmentosa, Late-Onset Dominant) AnnotationAssertion( "MESH:C567369"^^xsd:string) AnnotationAssertion( "RDO:0015457"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003803"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa, Late-Onset Dominant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Catalepsy) AnnotationAssertion(Annotation( "MESH:D002375"^^xsd:string) "A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions."^^xsd:string) AnnotationAssertion( "EFO:0009845"^^xsd:string) AnnotationAssertion( "MESH:D002375"^^xsd:string) AnnotationAssertion( "RDO:0005146"^^xsd:string) AnnotationAssertion( "Anochlesia"^^xsd:string) AnnotationAssertion( "Anochlesias"^^xsd:string) AnnotationAssertion( "Catalepsies"^^xsd:string) AnnotationAssertion( "Cerea Flexibilitas"^^xsd:string) AnnotationAssertion( "Waxy Flexibilities"^^xsd:string) AnnotationAssertion( "Waxy Flexibility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003805"^^xsd:string) AnnotationAssertion(rdfs:label "Catalepsy"^^xsd:string) SubClassOf( ) # Class: (PHACE Association) AnnotationAssertion( "MIM:606519"^^xsd:string) AnnotationAssertion( "MESH:C537892"^^xsd:string) AnnotationAssertion( "PHACES association"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003806"^^xsd:string) AnnotationAssertion(rdfs:label "PHACE Association"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bifid Nose) AnnotationAssertion( "MIM:109740"^^xsd:string) AnnotationAssertion( "MIM:210400"^^xsd:string) AnnotationAssertion( "MESH:C535441"^^xsd:string) AnnotationAssertion( "Bifid Nose, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "Bifid Nose, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Median fissure of nose"^^xsd:string) AnnotationAssertion( "median cleft of nose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003807"^^xsd:string) AnnotationAssertion(rdfs:label "Bifid Nose"^^xsd:string) SubClassOf( ) # Class: (Progressive Myoclonus Epilepsy 12) AnnotationAssertion( "An autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Caused by homozygous mutation in the SLC7A6OS gene on chromosome 16q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-01T14:15:20Z"^^xsd:string) AnnotationAssertion( "MIM:619191"^^xsd:string) AnnotationAssertion( "EPM12"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003808"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Myoclonus Epilepsy 12"^^xsd:string) SubClassOf( ) # Class: (Isolated Mineralocorticoid Deficiency) AnnotationAssertion( "RDO:0015638"^^xsd:string) AnnotationAssertion( "MESH:C567596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003809"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Mineralocorticoid Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8, Monosomy 8q) AnnotationAssertion( "MESH:C537828"^^xsd:string) AnnotationAssertion( "Deletion 8q"^^xsd:string) AnnotationAssertion( "Monosomy 8q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003810"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8, Monosomy 8q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ventricular Extrasystoles Perodactyly Robin Sequence) AnnotationAssertion( "MIM:192445"^^xsd:string) AnnotationAssertion( "MESH:C536537"^^xsd:string) AnnotationAssertion( "VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003812"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Extrasystoles Perodactyly Robin Sequence"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurologic Manifestations) AnnotationAssertion(Annotation( "MESH:D009461"^^xsd:string) "Clinical signs and symptoms caused by nervous system injury or dysfunction."^^xsd:string) AnnotationAssertion( "MESH:D009461"^^xsd:string) AnnotationAssertion( "Focal Neurologic Deficit"^^xsd:string) AnnotationAssertion( "Focal Neurologic Deficits"^^xsd:string) AnnotationAssertion( "Neurologic Deficit"^^xsd:string) AnnotationAssertion( "Neurologic Deficits"^^xsd:string) AnnotationAssertion( "Neurologic Dysfunction"^^xsd:string) AnnotationAssertion( "Neurologic Dysfunctions"^^xsd:string) AnnotationAssertion( "Neurologic Finding"^^xsd:string) AnnotationAssertion( "Neurologic Findings"^^xsd:string) AnnotationAssertion( "Neurologic Manifestation"^^xsd:string) AnnotationAssertion( "Neurologic Sign"^^xsd:string) AnnotationAssertion( "Neurologic Signs"^^xsd:string) AnnotationAssertion( "Neurologic Signs and Symptoms"^^xsd:string) AnnotationAssertion( "Neurologic Symptom"^^xsd:string) AnnotationAssertion( "Neurologic Symptoms"^^xsd:string) AnnotationAssertion( "Neurological Manifestation"^^xsd:string) AnnotationAssertion( "Neurological Manifestations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003814"^^xsd:string) AnnotationAssertion(rdfs:label "Neurologic Manifestations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rosselli-Gulienetti Syndrome) AnnotationAssertion( "MIM:225000"^^xsd:string) AnnotationAssertion( "MESH:C563117"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003815"^^xsd:string) AnnotationAssertion(rdfs:label "Rosselli-Gulienetti Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Macrocephaly) AnnotationAssertion(Annotation( "MESH:D058627"^^xsd:string) "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME)."^^xsd:string) AnnotationAssertion( "MIM:155350"^^xsd:string) AnnotationAssertion( "MESH:D058627"^^xsd:string) AnnotationAssertion( "Macrocephalies"^^xsd:string) AnnotationAssertion( "Megacephalies"^^xsd:string) AnnotationAssertion( "Megacephaly"^^xsd:string) AnnotationAssertion( "Megalencephalies"^^xsd:string) AnnotationAssertion( "Megalencephaly"^^xsd:string) AnnotationAssertion( "Megalocephalies"^^xsd:string) AnnotationAssertion( "Megalocephaly"^^xsd:string) AnnotationAssertion( "MACROCEPHALY SYNDROME, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "MEGALENCEPHALY-POLYDACTYLY SYNDROME"^^xsd:string) AnnotationAssertion( "megalencephaly, autosomal dominant"^^xsd:string) AnnotationAssertion( "megalencephaly, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003816"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sudden Hearing Loss) AnnotationAssertion(Annotation( "MESH:D003639"^^xsd:string) "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning."^^xsd:string) AnnotationAssertion( "RDO:0005310"^^xsd:string) AnnotationAssertion( "MESH:D003639"^^xsd:string) AnnotationAssertion( "SSHL"^^xsd:string) AnnotationAssertion( "SSNHL"^^xsd:string) AnnotationAssertion( "Sudden Deafness"^^xsd:string) AnnotationAssertion( "sudden sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "idiopathic sudden sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "DOID:9003817"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES) AnnotationAssertion(Annotation( "MIM:618547"^^xsd:string) "A disease characterized by global developmental delay with impaired intellectual development and speech delay, visual defects, and structural brain abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T17:57:39Z"^^xsd:string) AnnotationAssertion( "MIM:618547"^^xsd:string) AnnotationAssertion( "NEDVIBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003818"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis) AnnotationAssertion(Annotation( "MESH:D056648"^^xsd:string) "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls."^^xsd:string) AnnotationAssertion( "EFO:0004826"^^xsd:string) AnnotationAssertion( "MESH:D056648"^^xsd:string) AnnotationAssertion( "MONDO:0015492"^^xsd:string) AnnotationAssertion( "ANCA Associated Vasculitides"^^xsd:string) AnnotationAssertion( "ANCA Associated Vasculitis"^^xsd:string) AnnotationAssertion( "ANCA-Associated Vasculitide"^^xsd:string) AnnotationAssertion( "Pauci Immune Vasculitis"^^xsd:string) AnnotationAssertion( "Pauci-Immune Vasculitides"^^xsd:string) AnnotationAssertion( "anti-neutrophil antibody associated vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003819"^^xsd:string) AnnotationAssertion(rdfs:label "Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infantile Sialic Storage Disease) AnnotationAssertion( "MESH:C535525"^^xsd:string) AnnotationAssertion( "MIM:269920"^^xsd:string) AnnotationAssertion( "ISSD"^^xsd:string) AnnotationAssertion( "N-Acetylneuraminic acid storage disease"^^xsd:string) AnnotationAssertion( "Nana storage disease"^^xsd:string) AnnotationAssertion( "infantile form sialuria"^^xsd:string) AnnotationAssertion( "infantile form sialurias"^^xsd:string) AnnotationAssertion( "infantile sialic acid storage disease"^^xsd:string) AnnotationAssertion( "infantile sialic acid storage disorder"^^xsd:string) AnnotationAssertion( "infantile sialic acid storage disorder (ISSD)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003820"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Sialic Storage Disease"^^xsd:string) SubClassOf( ) # Class: (Hennekam Lymphangiectasia-Lymphedema Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T14:30:02Z"^^xsd:string) AnnotationAssertion( "MIM:235510"^^xsd:string) AnnotationAssertion( "HKLLS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003821"^^xsd:string) AnnotationAssertion(rdfs:label "Hennekam Lymphangiectasia-Lymphedema Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos syndrome classic-like 3) AnnotationAssertion(Annotation( "OMIM:620865"^^xsd:string) "This disease is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-09T12:00:22Z"^^xsd:string) AnnotationAssertion( "OMIM:620865"^^xsd:string) AnnotationAssertion( "EDSCLL3"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome classic-like type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003822"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos syndrome classic-like 3"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, PORPHYRIA-RELATED) AnnotationAssertion(Annotation( "MIM:620704"^^xsd:string) "This disease is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-13T17:22:07Z"^^xsd:string) AnnotationAssertion( "MIM:620704"^^xsd:string) AnnotationAssertion( "ENCEP"^^xsd:string) AnnotationAssertion( "porphyria-related encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003823"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, PORPHYRIA-RELATED"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infectious Encephalitis) AnnotationAssertion(Annotation( "MESH:D000069544"^^xsd:string) "Brain inflammation caused by an infectious agent.."^^xsd:string) AnnotationAssertion( "MESH:D000069544"^^xsd:string) AnnotationAssertion( "Encephalitis Infection"^^xsd:string) AnnotationAssertion( "Encephalitis Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003824"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Succinic Acidemia) AnnotationAssertion( "MIM:600335"^^xsd:string) AnnotationAssertion( "MESH:C563952"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003825"^^xsd:string) AnnotationAssertion(rdfs:label "Succinic Acidemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tumor Lysis Syndrome) AnnotationAssertion(Annotation( "MESH:D015275"^^xsd:string) "A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia."^^xsd:string) AnnotationAssertion( "EFO:1001479"^^xsd:string) AnnotationAssertion( "MESH:D015275"^^xsd:string) AnnotationAssertion( "Tumor Lysis Syndromes"^^xsd:string) AnnotationAssertion( "Tumour Lysis Syndrome"^^xsd:string) AnnotationAssertion( "Tumour Lysis Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003827"^^xsd:string) AnnotationAssertion(rdfs:label "Tumor Lysis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Klebsiella Infections) AnnotationAssertion(Annotation( "MESH:D007710"^^xsd:string) "Infections with bacteria of the genus KLEBSIELLA."^^xsd:string) AnnotationAssertion( "EFO:1001353"^^xsd:string) AnnotationAssertion( "MESH:D007710"^^xsd:string) AnnotationAssertion( "RDO:0005939"^^xsd:string) AnnotationAssertion( "Klebsiella Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003828"^^xsd:string) AnnotationAssertion(rdfs:label "Klebsiella Infections"^^xsd:string) SubClassOf( ) # Class: (Familial Acne Inversa 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T16:07:26Z"^^xsd:string) AnnotationAssertion( "MIM:613737"^^xsd:string) AnnotationAssertion( "MONDO:0013398"^^xsd:string) AnnotationAssertion( "ACNINV3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003829"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Acne Inversa 3"^^xsd:string) SubClassOf( ) # Class: (Primary Aldosteronism, Seizures, and Neurologic Abnormalities) AnnotationAssertion( "RDO:9000958"^^xsd:string) AnnotationAssertion( "CACNA1D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CACNA1D-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615474"^^xsd:string) AnnotationAssertion( "NCI:C188151"^^xsd:string) AnnotationAssertion( "PASNA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003830"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Aldosteronism, Seizures, and Neurologic Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mal de Debarquement) AnnotationAssertion( "MESH:C537840"^^xsd:string) AnnotationAssertion( "Mal de debarquement syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003831"^^xsd:string) AnnotationAssertion(rdfs:label "Mal de Debarquement"^^xsd:string) SubClassOf( ) # Class: (Dyssegmental Dysplasia with Glaucoma) AnnotationAssertion( "MIM:601561"^^xsd:string) AnnotationAssertion( "MESH:C563290"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003832"^^xsd:string) AnnotationAssertion(rdfs:label "Dyssegmental Dysplasia with Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keratolytic Winter Erythema) AnnotationAssertion( "MIM:148370"^^xsd:string) AnnotationAssertion( "MESH:C536155"^^xsd:string) AnnotationAssertion( "RDO:0001617"^^xsd:string) AnnotationAssertion( "Erythrokeratolysis hiemalis ichthyosis"^^xsd:string) AnnotationAssertion( "KWE"^^xsd:string) AnnotationAssertion( "OUDTSHOORN SKIN DISEASE"^^xsd:string) AnnotationAssertion( "Oudtshoorn skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003833"^^xsd:string) AnnotationAssertion(rdfs:label "Keratolytic Winter Erythema"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (early onset hypertension) AnnotationAssertion(Annotation( "DOID:10763"^^xsd:string) Annotation( "EFO:0004772"^^xsd:string) "This disease is an artery disease characterized by chronic elevated blood pressure in the arteries with early onset relative to normal range for a given population."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-10T17:48:35Z"^^xsd:string) AnnotationAssertion( "EFO:0004772"^^xsd:string) AnnotationAssertion( "early onset HTN"^^xsd:string) AnnotationAssertion( "early onset hyperpiesia"^^xsd:string) AnnotationAssertion( "early onset hyperpiesis"^^xsd:string) AnnotationAssertion( "early onset vascular hypertensive disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003834"^^xsd:string) AnnotationAssertion(rdfs:label "early onset hypertension"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis 6) AnnotationAssertion( "A primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616602"^^xsd:string) AnnotationAssertion( "CRS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003835"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis 6"^^xsd:string) SubClassOf( ) # Class: (Amyotrophic Lateral Sclerosis with Polyglucosan Bodies) AnnotationAssertion( "MIM:205250"^^xsd:string) AnnotationAssertion( "MESH:C565955"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003836"^^xsd:string) AnnotationAssertion(rdfs:label "Amyotrophic Lateral Sclerosis with Polyglucosan Bodies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Au-Kline Syndrome) AnnotationAssertion( "AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)"^^xsd:string) AnnotationAssertion( "DOID:9002401"^^xsd:string) AnnotationAssertion( "MESH:C565736"^^xsd:string) AnnotationAssertion( "MIM:616580"^^xsd:string) AnnotationAssertion( "AUKS"^^xsd:string) AnnotationAssertion( "Au-Kline-Okamoto syndrome"^^xsd:string) AnnotationAssertion( "Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation"^^xsd:string) AnnotationAssertion( "KABUKI-LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "Okamoto Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003837"^^xsd:string) AnnotationAssertion(rdfs:label "Au-Kline Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2) AnnotationAssertion(Annotation( "MIM:266300"^^xsd:string) "This pigment variation is a phenotype predominantly characterized by red hair and fair skin."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-15T12:52:49Z"^^xsd:string) AnnotationAssertion( "MIM:266300"^^xsd:string) AnnotationAssertion( "BLOND HAIR/FAIR SKIN"^^xsd:string) AnnotationAssertion( "HAIR COLOR 2"^^xsd:string) AnnotationAssertion( "HCL2"^^xsd:string) AnnotationAssertion( "RED HAIR COLOR"^^xsd:string) AnnotationAssertion( "RHA"^^xsd:string) AnnotationAssertion( "RHC"^^xsd:string) AnnotationAssertion( "SHEP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003838"^^xsd:string) AnnotationAssertion(rdfs:label "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations) AnnotationAssertion( "MIM:613759"^^xsd:string) AnnotationAssertion( "FADD deficiency"^^xsd:string) AnnotationAssertion( "IMD90"^^xsd:string) AnnotationAssertion( "INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS"^^xsd:string) AnnotationAssertion( "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003840"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acquired Protein C Deficiency) AnnotationAssertion( "MESH:C567164"^^xsd:string) AnnotationAssertion( "RDO:0015312"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003841"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Protein C Deficiency"^^xsd:string) SubClassOf( ) # Class: (Foot Dermatoses) AnnotationAssertion(Annotation( "MESH:D005533"^^xsd:string) "Skin diseases of the foot, general or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D005533"^^xsd:string) AnnotationAssertion( "Foot Dermatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003842"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Dermatoses"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1q4) AnnotationAssertion( "MESH:C537672"^^xsd:string) AnnotationAssertion( "RDO:0003552"^^xsd:string) AnnotationAssertion( "Deletion 1q4"^^xsd:string) AnnotationAssertion( "Monosomy 1q4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003843"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1q4"^^xsd:string) SubClassOf( ) # Class: (Battered Child Syndrome) AnnotationAssertion(Annotation( "MESH:D001497"^^xsd:string) "A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers."^^xsd:string) AnnotationAssertion( "MESH:D001497"^^xsd:string) AnnotationAssertion( "Battered Child Syndromes"^^xsd:string) AnnotationAssertion( "Nonaccidental Trauma in Children"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003844"^^xsd:string) AnnotationAssertion(rdfs:label "Battered Child Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stress Fractures) AnnotationAssertion(Annotation( "MESH:D015775"^^xsd:string) "Fractures due to the strain caused by repetitive exercise. They are thought to arise from a combination of MUSCLE FATIGUE and bone failure, and occur in situations where BONE REMODELING predominates over repair. The most common sites of stress fractures are the METATARSUS; FIBULA; TIBIA; and FEMORAL NECK."^^xsd:string) AnnotationAssertion( "MESH:D015775"^^xsd:string) AnnotationAssertion( "Fatigue Fracture"^^xsd:string) AnnotationAssertion( "Fatigue Fractures"^^xsd:string) AnnotationAssertion( "Insufficiency Fracture"^^xsd:string) AnnotationAssertion( "Insufficiency Fractures"^^xsd:string) AnnotationAssertion( "March Fracture"^^xsd:string) AnnotationAssertion( "March Fractures"^^xsd:string) AnnotationAssertion( "Micro Fracture"^^xsd:string) AnnotationAssertion( "Micro Fractures"^^xsd:string) AnnotationAssertion( "Microfracture"^^xsd:string) AnnotationAssertion( "Microfractures"^^xsd:string) AnnotationAssertion( "Stress Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003845"^^xsd:string) AnnotationAssertion(rdfs:label "Stress Fractures"^^xsd:string) SubClassOf( ) # Class: (Sinoatrial Block) AnnotationAssertion(Annotation( "MESH:D012848"^^xsd:string) "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM."^^xsd:string) AnnotationAssertion( "MESH:D012848"^^xsd:string) AnnotationAssertion( "Sinoatrial Blocks"^^xsd:string) AnnotationAssertion( "Sinoatrial Exit Block"^^xsd:string) AnnotationAssertion( "Sinoatrial Exit Blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003846"^^xsd:string) AnnotationAssertion(rdfs:label "Sinoatrial Block"^^xsd:string) SubClassOf( ) # Class: (Mannosidase Deficiency Diseases) AnnotationAssertion(Annotation( "MESH:D044904"^^xsd:string) "Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme."^^xsd:string) AnnotationAssertion( "MESH:D044904"^^xsd:string) AnnotationAssertion( "Mannosidase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Mannosidase Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Mannosidase Deficiency Syndromes"^^xsd:string) AnnotationAssertion( "Mannosidoses"^^xsd:string) AnnotationAssertion( "Mannosidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003847"^^xsd:string) AnnotationAssertion(rdfs:label "Mannosidase Deficiency Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lentiginosis, Centrofacial Neurodysraphic) AnnotationAssertion( "MIM:151000"^^xsd:string) AnnotationAssertion( "MESH:C563630"^^xsd:string) AnnotationAssertion( "Lentiginosis, Touraine Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003848"^^xsd:string) AnnotationAssertion(rdfs:label "Lentiginosis, Centrofacial Neurodysraphic"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Intellectual Developmental Disorder 80) AnnotationAssertion(Annotation( "MIM:620653"^^xsd:string) "A disease characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Caused by homozygous or compound heterozygous mutation in the CASP2 gene on chromosome 7q35."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-19T15:49:53Z"^^xsd:string) AnnotationAssertion( "MIM:620653"^^xsd:string) AnnotationAssertion( "MRT80"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003849"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Intellectual Developmental Disorder 80"^^xsd:string) SubClassOf( ) # Class: (Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness) AnnotationAssertion( "MIM:184000"^^xsd:string) AnnotationAssertion( "MESH:C566659"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003850"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prekallikrein Deficiency) AnnotationAssertion(Annotation( "MIM:612423"^^xsd:string) "This disease is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time"^^xsd:string) AnnotationAssertion( "MIM:612423"^^xsd:string) AnnotationAssertion( "OMIA:000819"^^xsd:string) AnnotationAssertion( "MESH:C562725"^^xsd:string) AnnotationAssertion( "Fletcher Factor Deficiency"^^xsd:string) AnnotationAssertion( "INHERITED PREKALLIKREIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "KLKB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PKK Deficiency"^^xsd:string) AnnotationAssertion( "PKKD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003851"^^xsd:string) AnnotationAssertion(rdfs:label "Prekallikrein Deficiency"^^xsd:string) SubClassOf( ) # Class: (periprosthetic osteolysis) AnnotationAssertion(Annotation( "EFO:0009761"^^xsd:string) "This is a progressive resorption of bone caused by a host inflammatory response to particulate debris produced by friction between articulating surfaces in an artificial joint."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-30T10:59:27Z"^^xsd:string) AnnotationAssertion( "EFO:0009761"^^xsd:string) AnnotationAssertion( "particular wear debris osteolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003852"^^xsd:string) AnnotationAssertion(rdfs:label "periprosthetic osteolysis"^^xsd:string) SubClassOf( ) # Class: (Giant Cell Tumors) AnnotationAssertion(Annotation( "MESH:D005870"^^xsd:string) "Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T08:18:21Z"^^xsd:string) AnnotationAssertion( "EFO:1000281"^^xsd:string) AnnotationAssertion( "MESH:D005870"^^xsd:string) AnnotationAssertion( "NCI:C3055"^^xsd:string) AnnotationAssertion( "NCI:C7069"^^xsd:string) AnnotationAssertion( "giant cell neoplasm"^^xsd:string) AnnotationAssertion( "giant cell tumor"^^xsd:string) AnnotationAssertion( "tumor of the giant cell"^^xsd:string) AnnotationAssertion( "Giant Cell Tumor of Soft Tissue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003853"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Cell Tumors"^^xsd:string) SubClassOf( ) # Class: (Cleft Lip with or without Cleft Palate, Nonsyndromic, 7) AnnotationAssertion( "MESH:C565603"^^xsd:string) AnnotationAssertion( "RDO:0014194"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003854"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Lip with or without Cleft Palate, Nonsyndromic, 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vesicoureteral Reflux 5) AnnotationAssertion( "MIM:614318"^^xsd:string) AnnotationAssertion( "VUR5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003855"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 5"^^xsd:string) SubClassOf( ) # Class: (Kashani Strom Utley Syndrome) AnnotationAssertion( "MESH:C537010"^^xsd:string) AnnotationAssertion( "Hypoplastic pulmonary arteries and aorta with obstructive uropathy"^^xsd:string) AnnotationAssertion( "Pulmonary aortic stenosis obstructive uropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003856"^^xsd:string) AnnotationAssertion(rdfs:label "Kashani Strom Utley Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Central Nervous System Cysts) AnnotationAssertion(Annotation( "MESH:D020863"^^xsd:string) "Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement."^^xsd:string) AnnotationAssertion( "EFO:0003760"^^xsd:string) AnnotationAssertion( "MESH:D020863"^^xsd:string) AnnotationAssertion( "Rathke Cleft Cysts"^^xsd:string) AnnotationAssertion( "Rathke's Cleft Cysts"^^xsd:string) AnnotationAssertion( "Rathkes Cleft Cysts"^^xsd:string) AnnotationAssertion( "Suprasellar Cyst"^^xsd:string) AnnotationAssertion( "Suprasellar Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003857"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Environmental Illness) AnnotationAssertion(Annotation( "MESH:D018876"^^xsd:string) "A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this 'disease', given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "MESH:D018876"^^xsd:string) AnnotationAssertion( "RDO:0007230"^^xsd:string) AnnotationAssertion( "Environmental Hypersensitivities"^^xsd:string) AnnotationAssertion( "Environmental Hypersensitivity"^^xsd:string) AnnotationAssertion( "Environmental Illnesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003858"^^xsd:string) AnnotationAssertion(rdfs:label "Environmental Illness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immune & Inflammatory Diseases) AnnotationAssertion( "Diseases characterized by inflammation or disorders caused by abnormal/absent immunologic mechanisms, whether humoral, cell-mediated, or both."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003859"^^xsd:string) AnnotationAssertion(rdfs:label "Immune & Inflammatory Diseases"^^xsd:string) SubClassOf( ) # Class: (Morbillivirus Infections) AnnotationAssertion(Annotation( "MESH:D018185"^^xsd:string) "Infections with viruses of the genus MORBILLIVIRUS, family PARAMYXOVIRIDAE. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions."^^xsd:string) AnnotationAssertion( "EFO:0007377"^^xsd:string) AnnotationAssertion( "MESH:D018185"^^xsd:string) AnnotationAssertion( "RDO:0005381"^^xsd:string) AnnotationAssertion( "Morbillivirus Infection"^^xsd:string) AnnotationAssertion( "Morbillivirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003860"^^xsd:string) AnnotationAssertion(rdfs:label "Morbillivirus Infections"^^xsd:string) SubClassOf( ) # Class: (Krieble Bixler Syndrome) AnnotationAssertion( "MESH:C537619"^^xsd:string) AnnotationAssertion( "Autosomal dominant blepharophimosis with multiple congenital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003861"^^xsd:string) AnnotationAssertion(rdfs:label "Krieble Bixler Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypohidrosis with Abnormal Palmar Dermal Ridges) AnnotationAssertion( "MIM:241120"^^xsd:string) AnnotationAssertion( "MESH:C565481"^^xsd:string) AnnotationAssertion( "Sweat Gland Hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hypohidrosis aith Abnormal Palmar Dermal Ridges"^^xsd:string) AnnotationAssertion( "DOID:9003862"^^xsd:string) AnnotationAssertion(rdfs:label "Hypohidrosis with Abnormal Palmar Dermal Ridges"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities) AnnotationAssertion( "MIM:300719"^^xsd:string) AnnotationAssertion( "MESH:C567467"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003863"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (16Q24.3 Microdeletion Syndrome) AnnotationAssertion( "A syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. (Orphanet)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ORPHA:261250"^^xsd:string) AnnotationAssertion( "RDO:9001300"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003864"^^xsd:string) AnnotationAssertion(rdfs:label "16Q24.3 Microdeletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Short Stature, and Polymicrogyria with or without Seizures) AnnotationAssertion( "MSSP is caused by homozygous or compound heterozygous mutation in the RTTN gene on chromosome 18q22. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614833"^^xsd:string) AnnotationAssertion( "MSSP"^^xsd:string) AnnotationAssertion( "RTTN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PMGYS"^^xsd:string) AnnotationAssertion( "microcephaly, short stature, and polymicrogyria with seizures"^^xsd:string) AnnotationAssertion( "polymicrogyria with seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003865"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Short Stature, and Polymicrogyria with or without Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1q25 q32) AnnotationAssertion( "MESH:C535596"^^xsd:string) AnnotationAssertion( "RDO:0000814"^^xsd:string) AnnotationAssertion( "Deletion 1q25 q32"^^xsd:string) AnnotationAssertion( "Monosomy 1q25 q32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003866"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1q25 q32"^^xsd:string) SubClassOf( ) # Class: (Lymphomatoid Papulosis) AnnotationAssertion(Annotation( "MESH:D017731"^^xsd:string) "Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA."^^xsd:string) AnnotationAssertion( "EFO:1000341"^^xsd:string) AnnotationAssertion( "MESH:D017731"^^xsd:string) AnnotationAssertion( "Lymphomatoid Papuloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003867"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphomatoid Papulosis"^^xsd:string) SubClassOf( ) # Class: (Diffuse Cutaneous Leishmaniasis) AnnotationAssertion(Annotation( "MESH:D016774"^^xsd:string) "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement."^^xsd:string) AnnotationAssertion( "EFO:1001784"^^xsd:string) AnnotationAssertion( "MESH:D016774"^^xsd:string) AnnotationAssertion( "Diffuse Cutaneous Leishmaniases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003868"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Cutaneous Leishmaniasis"^^xsd:string) SubClassOf( ) # Class: (Melhem Fahl Syndrome) AnnotationAssertion( "MESH:C537238"^^xsd:string) AnnotationAssertion( "RDO:0003030"^^xsd:string) AnnotationAssertion( "Fifteen dorsal vertebrae and rib pairs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003869"^^xsd:string) AnnotationAssertion(rdfs:label "Melhem Fahl Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Herpes Simplex Encephalitis) AnnotationAssertion(Annotation( "MESH:D020803"^^xsd:string) "An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)"^^xsd:string) AnnotationAssertion( "MESH:D020803"^^xsd:string) AnnotationAssertion( "NCI:C84762"^^xsd:string) AnnotationAssertion( "Herpes Simplex Encephalitides"^^xsd:string) AnnotationAssertion( "Herpes Simplex Meningoencephalitides"^^xsd:string) AnnotationAssertion( "Herpes Simplex Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Herpetic Acute Necrotizing Encephalitis"^^xsd:string) AnnotationAssertion( "Herpetic Encephalitides"^^xsd:string) AnnotationAssertion( "Herpetic Encephalitis"^^xsd:string) AnnotationAssertion( "Herpetic Meningoencephalitides"^^xsd:string) AnnotationAssertion( "Herpetic Meningoencephalitis"^^xsd:string) AnnotationAssertion( "herpes encephalitis"^^xsd:string) AnnotationAssertion( "meningoencephalitis, herpes simplex virus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003870"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Simplex Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Venous Thrombosis) AnnotationAssertion(Annotation( "MESH:D020246"^^xsd:string) "The formation or presence of a blood clot (THROMBUS) within a vein."^^xsd:string) AnnotationAssertion( "EFO:0003907"^^xsd:string) AnnotationAssertion( "MESH:D020246"^^xsd:string) AnnotationAssertion( "NCI:C49343"^^xsd:string) AnnotationAssertion( "DVT"^^xsd:string) AnnotationAssertion( "Deep Vein Thrombosis"^^xsd:string) AnnotationAssertion( "Deep Venous Thrombosis"^^xsd:string) AnnotationAssertion( "Phlebothromboses"^^xsd:string) AnnotationAssertion( "deep vein thromboses"^^xsd:string) AnnotationAssertion( "deep venous thromboses"^^xsd:string) AnnotationAssertion( "phlebothrombosis"^^xsd:string) AnnotationAssertion( "venous thromboses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "venous thrombosis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9003871"^^xsd:string) AnnotationAssertion(rdfs:label "Venous Thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alpha-Mannosidosis, Type 2) AnnotationAssertion( "A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. It is the most common form. (GARD)"^^xsd:string) AnnotationAssertion( "RDO:0002211"^^xsd:string) AnnotationAssertion( "RDO:0014059"^^xsd:string) AnnotationAssertion( "MESH:C536585"^^xsd:string) AnnotationAssertion( "MESH:C565418"^^xsd:string) AnnotationAssertion( "alpha-mannosidosis, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003872"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Mannosidosis, Type 2"^^xsd:string) SubClassOf( ) # Class: (Gingival Fibromatosis 1) AnnotationAssertion( "MIM:135300"^^xsd:string) AnnotationAssertion( "SOS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C562884"^^xsd:string) AnnotationAssertion( "GGF1"^^xsd:string) AnnotationAssertion( "GINGF"^^xsd:string) AnnotationAssertion( "GINGF1"^^xsd:string) AnnotationAssertion( "HGF"^^xsd:string) AnnotationAssertion( "gingival fibromatosis, type 1"^^xsd:string) AnnotationAssertion( "hereditary gingival fibromatosis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003873"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bleeding Disorder, East Texas Type) AnnotationAssertion( "MIM:605913"^^xsd:string) AnnotationAssertion( "MESH:C565275"^^xsd:string) AnnotationAssertion( "BDET"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003875"^^xsd:string) AnnotationAssertion(rdfs:label "Bleeding Disorder, East Texas Type"^^xsd:string) SubClassOf( ) # Class: (Jaw Diseases) AnnotationAssertion(Annotation( "MESH:D007571"^^xsd:string) "Diseases involving the JAW."^^xsd:string) AnnotationAssertion( "EFO:0009468"^^xsd:string) AnnotationAssertion( "MESH:D007571"^^xsd:string) AnnotationAssertion( "Jaw Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003876"^^xsd:string) AnnotationAssertion(rdfs:label "Jaw Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A6) AnnotationAssertion( "RDO:9000873"^^xsd:string) AnnotationAssertion( "MIM:615226"^^xsd:string) AnnotationAssertion( "PAPA6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003877"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A6"^^xsd:string) SubClassOf( ) # Class: (Parasitic Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D015597"^^xsd:string) "The co-occurrence of pregnancy and parasitic diseases. The parasitic infection may precede or follow FERTILIZATION."^^xsd:string) AnnotationAssertion( "MESH:D015597"^^xsd:string) AnnotationAssertion( "Parasitic Complications Pregnancies"^^xsd:string) AnnotationAssertion( "Parasitic Pregnancy Complication"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003878"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Pregnancy Complications"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vein of Galen Aneurysm) AnnotationAssertion( "GARD:5467"^^xsd:string) AnnotationAssertion( "MESH:C536535"^^xsd:string) AnnotationAssertion( "MONDO:0015196"^^xsd:string) AnnotationAssertion( "ORDO:1053"^^xsd:string) AnnotationAssertion( "Ectasia or varix of the vein of Galen"^^xsd:string) AnnotationAssertion( "Galen vein aneurysm"^^xsd:string) AnnotationAssertion( "Galenic arteriovenous malformation"^^xsd:string) AnnotationAssertion( "VGAM"^^xsd:string) AnnotationAssertion( "Vein of Galen aneurysm malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003879"^^xsd:string) AnnotationAssertion(rdfs:label "Vein of Galen Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Primary Bile Acid Malabsorption) AnnotationAssertion( "MESH:C567652"^^xsd:string) AnnotationAssertion( "PBAM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003880"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Bile Acid Malabsorption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex 5C with Pyloric Atresia) AnnotationAssertion( "MIM:612138"^^xsd:string) AnnotationAssertion( "MESH:C567408"^^xsd:string) AnnotationAssertion( "EBS with pyloric atresia"^^xsd:string) AnnotationAssertion( "EBS-PA"^^xsd:string) AnnotationAssertion( "EBS5C"^^xsd:string) AnnotationAssertion( "EBSPA"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex with pyloric atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003881"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 5C with Pyloric Atresia"^^xsd:string) SubClassOf( ) # Class: (Chromosomal Instability) AnnotationAssertion(Annotation( "MESH:D043171"^^xsd:string) "An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional."^^xsd:string) AnnotationAssertion( "MESH:D043171"^^xsd:string) AnnotationAssertion( "Chromosomal Instabilities"^^xsd:string) AnnotationAssertion( "Chromosomal Stabilities"^^xsd:string) AnnotationAssertion( "Chromosomal Stability"^^xsd:string) AnnotationAssertion( "Chromosome Instabilities"^^xsd:string) AnnotationAssertion( "Chromosome Instability"^^xsd:string) AnnotationAssertion( "Chromosome Stabilities"^^xsd:string) AnnotationAssertion( "Chromosome Stability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003882"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosomal Instability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isolated Macrothrombocytopenia 2, Autosomal Dominant) AnnotationAssertion(Annotation( "MIM:619840"^^xsd:string) "Characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Caused by heterozygous mutation in the TUBA8 gene on chromosome 22q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T10:51:18Z"^^xsd:string) AnnotationAssertion( "MIM:619840"^^xsd:string) AnnotationAssertion( "MACTHC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003883"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Macrothrombocytopenia 2, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Recombinant Chromosome 8 Syndrome) AnnotationAssertion( "MIM:179613"^^xsd:string) AnnotationAssertion( "MESH:C535296"^^xsd:string) AnnotationAssertion( "CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION"^^xsd:string) AnnotationAssertion( "REC8 SYNDROME"^^xsd:string) AnnotationAssertion( "Rec(8) Syndrome"^^xsd:string) AnnotationAssertion( "Recombinant 8 Syndrome"^^xsd:string) AnnotationAssertion( "San Luis Valley recombinant chromosome 8 syndrome"^^xsd:string) AnnotationAssertion( "San Luis Valley syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003884"^^xsd:string) AnnotationAssertion(rdfs:label "Recombinant Chromosome 8 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Singleton-Merten Syndrome 1) AnnotationAssertion( "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. (MONDO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:182250"^^xsd:string) AnnotationAssertion( "MONDO:0024535"^^xsd:string) AnnotationAssertion( "SGMRT1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003885"^^xsd:string) AnnotationAssertion(rdfs:label "Singleton-Merten Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Trichodysplasia-Xeroderma) AnnotationAssertion( "MIM:190360"^^xsd:string) AnnotationAssertion( "MESH:C566032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003886"^^xsd:string) AnnotationAssertion(rdfs:label "Trichodysplasia-Xeroderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Long Term Adverse Effects) AnnotationAssertion(Annotation( "MESH:D000069451"^^xsd:string) "Persistent detrimental effects from treatment for a condition. Included are effects from surgery such as POSTOPERATIVE COMPLICATIONS, and from DRUG THERAPY, such as CHEMICALLY INDUCED DISORDERS, or other THERAPEUTICS. Failure to attain a desired outcome from treatment for the condition is not considered an adverse effect."^^xsd:string) AnnotationAssertion( "MESH:D000069451"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003887"^^xsd:string) AnnotationAssertion(rdfs:label "Long Term Adverse Effects"^^xsd:string) SubClassOf( ) # Class: (Brachydactyly Type E, with Atrial Septal Defect, Type II) AnnotationAssertion( "MIM:113301"^^xsd:string) AnnotationAssertion( "MESH:C566193"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003888"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly Type E, with Atrial Septal Defect, Type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Focal Cortical Dysplasia of Taylor, Type IIB) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-19T13:17:40Z"^^xsd:string) AnnotationAssertion( "CDTBC"^^xsd:string) AnnotationAssertion( "CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS"^^xsd:string) AnnotationAssertion( "FCD IIB"^^xsd:string) AnnotationAssertion( "FCORD2B"^^xsd:string) AnnotationAssertion( "FOCAL CORTICAL DYSPLASIA, TYPE IIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003889"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Cortical Dysplasia of Taylor, Type IIB"^^xsd:string) SubClassOf( ) # Class: (X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia) AnnotationAssertion( "MIM:300367"^^xsd:string) AnnotationAssertion( "RDO:0008582"^^xsd:string) AnnotationAssertion( "RDO:0013462"^^xsd:string) AnnotationAssertion( "RDO:0013463"^^xsd:string) AnnotationAssertion( "MESH:C564525"^^xsd:string) AnnotationAssertion( "MESH:C564526"^^xsd:string) AnnotationAssertion( "Gata1-Related Cytopenia"^^xsd:string) AnnotationAssertion( "Gata1-Related X-Linked Cytopenia"^^xsd:string) AnnotationAssertion( "X-linked macrothrombocytopenia"^^xsd:string) AnnotationAssertion( "XLTDA"^^xsd:string) AnnotationAssertion( "GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA"^^xsd:string) AnnotationAssertion( "dyserythropoietic anemia and thrombocytopenia"^^xsd:string) AnnotationAssertion( "dyserythropoietic anemia with thrombocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003890"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteopoikilosis and Dacryocystitis) AnnotationAssertion( "MIM:166705"^^xsd:string) AnnotationAssertion( "MESH:C536061"^^xsd:string) AnnotationAssertion( "Dacryocystitis osteopoikilosis"^^xsd:string) AnnotationAssertion( "Gunal Seber Basaran syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003891"^^xsd:string) AnnotationAssertion(rdfs:label "Osteopoikilosis and Dacryocystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mismatch Repair Cancer Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-30T11:27:02Z"^^xsd:string) AnnotationAssertion( "MLH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:276300"^^xsd:string) AnnotationAssertion( "BTP1 syndrome"^^xsd:string) AnnotationAssertion( "BTPS1"^^xsd:string) AnnotationAssertion( "MMRCS1"^^xsd:string) AnnotationAssertion( "brain tumor-polyposis syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003892"^^xsd:string) AnnotationAssertion(rdfs:label "Mismatch Repair Cancer Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE) AnnotationAssertion(Annotation( "MIM:618970"^^xsd:string) "A disease characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-09-04T18:39:17Z"^^xsd:string) AnnotationAssertion( "MIM:618970"^^xsd:string) AnnotationAssertion( "CRSDS"^^xsd:string) AnnotationAssertion( "congenital nonprogressive cone-rod synaptic disorder syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003893"^^xsd:string) AnnotationAssertion(rdfs:label "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Angiofollicular Ganglionic Hyperplasia) AnnotationAssertion( "MESH:C536362"^^xsd:string) AnnotationAssertion( "RDO:0001922"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003894"^^xsd:string) AnnotationAssertion(rdfs:label "Angiofollicular Ganglionic Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2) AnnotationAssertion(Annotation( "MIM:618193"^^xsd:string) "A recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-12-07T14:02:19Z"^^xsd:string) AnnotationAssertion( "MIM:618193"^^xsd:string) AnnotationAssertion( "PLOSL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003895"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polyps) AnnotationAssertion(Annotation( "MESH:D011127"^^xsd:string) "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base."^^xsd:string) AnnotationAssertion( "EFO:0000662"^^xsd:string) AnnotationAssertion( "EFO:0009478"^^xsd:string) AnnotationAssertion( "EFO:1000300"^^xsd:string) AnnotationAssertion( "MESH:D011127"^^xsd:string) AnnotationAssertion( "Polyp"^^xsd:string) AnnotationAssertion( "vocal cord polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003896"^^xsd:string) AnnotationAssertion(rdfs:label "Polyps"^^xsd:string) SubClassOf( ) # Class: (Iris Hypoplasia and Glaucoma) AnnotationAssertion( "MIM:308500"^^xsd:string) AnnotationAssertion( "MESH:C535538"^^xsd:string) AnnotationAssertion( "IHG"^^xsd:string) AnnotationAssertion( "iris hypoplasia with glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003897"^^xsd:string) AnnotationAssertion(rdfs:label "Iris Hypoplasia and Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chloramphenicol Toxicity) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:515000"^^xsd:string) AnnotationAssertion( "chloramphenicol-induced anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chloramphenicol resistance"^^xsd:string) AnnotationAssertion( "DOID:9003898"^^xsd:string) AnnotationAssertion(rdfs:label "Chloramphenicol Toxicity"^^xsd:string) SubClassOf( ) # Class: (Thomas Jewett Raines Syndrome) AnnotationAssertion( "MESH:C536513"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003899"^^xsd:string) AnnotationAssertion(rdfs:label "Thomas Jewett Raines Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Keratosis Follicularis, Dwarfism, and Cerebral Atrophy) AnnotationAssertion( "MIM:308830"^^xsd:string) AnnotationAssertion( "MESH:C536158"^^xsd:string) AnnotationAssertion( "Keratosis Follicularis Dwarfism Cerebral Atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003900"^^xsd:string) AnnotationAssertion(rdfs:label "Keratosis Follicularis, Dwarfism, and Cerebral Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Atrial Flutter) AnnotationAssertion(Annotation( "MESH:D001282"^^xsd:string) "Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)."^^xsd:string) AnnotationAssertion( "EFO:0003911"^^xsd:string) AnnotationAssertion( "MESH:D001282"^^xsd:string) AnnotationAssertion( "MONDO:0005310"^^xsd:string) AnnotationAssertion( "NCI:C51224"^^xsd:string) AnnotationAssertion( "Atrial Flutters"^^xsd:string) AnnotationAssertion( "Auricular Flutter"^^xsd:string) AnnotationAssertion( "Auricular Flutters"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003901"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Flutter"^^xsd:string) SubClassOf( ) # Class: (Progressive Myoclonus Epilepsy 11) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-13T09:55:18Z"^^xsd:string) AnnotationAssertion( "MIM:618876"^^xsd:string) AnnotationAssertion( "EPM11"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003902"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Myoclonus Epilepsy 11"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Intellectual Developmental Disorder 69) AnnotationAssertion(Annotation( "MIM:617863"^^xsd:string) "Characterized by developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMAN2L gene on chromosome 2q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T11:17:42Z"^^xsd:string) AnnotationAssertion( "MIM:617863"^^xsd:string) AnnotationAssertion( "MRD69"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 69"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003904"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 69"^^xsd:string) SubClassOf( ) # Class: (Benign Familial Chorea) AnnotationAssertion( "MIM:215450"^^xsd:string) AnnotationAssertion( "MESH:C565851"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003905"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Chorea"^^xsd:string) SubClassOf( ) # Class: (Nervous System Paraneoplastic Syndromes) AnnotationAssertion(Annotation( "MESH:D020361"^^xsd:string) "Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)"^^xsd:string) AnnotationAssertion( "MESH:D020361"^^xsd:string) AnnotationAssertion( "Paraneoplastic Autonomic Dysfunction"^^xsd:string) AnnotationAssertion( "Paraneoplastic Autonomic Dysfunctions"^^xsd:string) AnnotationAssertion( "Paraneoplastic Encephalomyelitides"^^xsd:string) AnnotationAssertion( "Paraneoplastic Encephalomyelitis"^^xsd:string) AnnotationAssertion( "Paraneoplastic Neurologic Syndrome"^^xsd:string) AnnotationAssertion( "Paraneoplastic Neurologic Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003906"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Paraneoplastic Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610181"^^xsd:string) AnnotationAssertion( "NCI:C165673"^^xsd:string) AnnotationAssertion( "AGS2"^^xsd:string) AnnotationAssertion( "RNASEH2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003907"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Microcolon) AnnotationAssertion( "MIM:251400"^^xsd:string) AnnotationAssertion( "MESH:C562563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003908"^^xsd:string) AnnotationAssertion(rdfs:label "Microcolon"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 67) AnnotationAssertion( "An autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)"^^xsd:string) AnnotationAssertion( "MESH:C564352"^^xsd:string) AnnotationAssertion( "MIM:607676"^^xsd:string) AnnotationAssertion( "IMD67"^^xsd:string) AnnotationAssertion( "IPD1"^^xsd:string) AnnotationAssertion( "IRAK-4 deficiency"^^xsd:string) AnnotationAssertion( "IRAK4 deficiency"^^xsd:string) AnnotationAssertion( "IRAK4D"^^xsd:string) AnnotationAssertion( "Invasive Pneumococcal Disease, Recurrent Isolated, 1"^^xsd:string) AnnotationAssertion( "INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "DOID:9003909"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 67"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 18 Mosaic Monosomy) AnnotationAssertion( "MESH:C536581"^^xsd:string) AnnotationAssertion( "RDO:0002206"^^xsd:string) AnnotationAssertion( "Monosomy 18 mosaicism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003910"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18 Mosaic Monosomy"^^xsd:string) SubClassOf( ) # Class: (Aniridia 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T08:14:06Z"^^xsd:string) AnnotationAssertion( "MIM:617141"^^xsd:string) AnnotationAssertion( "AN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003911"^^xsd:string) AnnotationAssertion(rdfs:label "Aniridia 2"^^xsd:string) SubClassOf( ) # Class: (Bundle-Branch Block) AnnotationAssertion( "A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles."^^xsd:string) AnnotationAssertion( "EFO:0004138"^^xsd:string) AnnotationAssertion( "MESH:D002037"^^xsd:string) AnnotationAssertion( "Anterior Fascicular Block"^^xsd:string) AnnotationAssertion( "Fascicular Block"^^xsd:string) AnnotationAssertion( "Fascicular Blocks"^^xsd:string) AnnotationAssertion( "Left Bundle Branch Block"^^xsd:string) AnnotationAssertion( "Left Bundle-Branch Blocks"^^xsd:string) AnnotationAssertion( "anterior fascicular blocks"^^xsd:string) AnnotationAssertion( "bundle branch blocks"^^xsd:string) AnnotationAssertion( "posterior fascicular block"^^xsd:string) AnnotationAssertion( "posterior fascicular blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003912"^^xsd:string) AnnotationAssertion(rdfs:label "Bundle-Branch Block"^^xsd:string) SubClassOf( ) # Class: (Postoperative Nausea and Vomiting) AnnotationAssertion(Annotation( "MESH:D020250"^^xsd:string) "Emesis and queasiness occurring after anesthesia."^^xsd:string) AnnotationAssertion( "EFO:0004888"^^xsd:string) AnnotationAssertion( "MESH:D020250"^^xsd:string) AnnotationAssertion( "RDO:0007375"^^xsd:string) AnnotationAssertion( "PONV"^^xsd:string) AnnotationAssertion( "Postoperative Emeses"^^xsd:string) AnnotationAssertion( "Postoperative Emesis"^^xsd:string) AnnotationAssertion( "Postoperative Nausea"^^xsd:string) AnnotationAssertion( "Postoperative Vomiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003913"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Nausea and Vomiting"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Faundes-Banka Syndrome) AnnotationAssertion( "An autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. Caused by heterozygous mutation in the EIF5A gene on chromosome 17p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T12:22:01Z"^^xsd:string) AnnotationAssertion( "MIM:619376"^^xsd:string) AnnotationAssertion( "FABAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003915"^^xsd:string) AnnotationAssertion(rdfs:label "Faundes-Banka Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia) AnnotationAssertion( "MIM:607944"^^xsd:string) AnnotationAssertion( "MESH:C564307"^^xsd:string) AnnotationAssertion( "ROIFMAN IMMUNOSKELETAL SYNDROME"^^xsd:string) AnnotationAssertion( "SPENCD"^^xsd:string) AnnotationAssertion( "SPENCDI"^^xsd:string) AnnotationAssertion( "Spondyloenchondrodysplasia with Immune Dysregulation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003917"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Forebrain Defects) AnnotationAssertion( "MESH:C566067"^^xsd:string) AnnotationAssertion( "RDO:0014538"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003918"^^xsd:string) AnnotationAssertion(rdfs:label "Forebrain Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urination Disorders) AnnotationAssertion(Annotation( "MESH:D014555"^^xsd:string) "Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE."^^xsd:string) AnnotationAssertion( "MESH:D014555"^^xsd:string) AnnotationAssertion( "Urination Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003919"^^xsd:string) AnnotationAssertion(rdfs:label "Urination Disorders"^^xsd:string) SubClassOf( ) # Class: (Microtia, Hearing Impairment, and Cleft Palate) AnnotationAssertion( "MIM:612290"^^xsd:string) AnnotationAssertion( "MESH:C567359"^^xsd:string) AnnotationAssertion( "RDO:0015450"^^xsd:string) AnnotationAssertion( "MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003920"^^xsd:string) AnnotationAssertion(rdfs:label "Microtia, Hearing Impairment, and Cleft Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zinc Deficiency) AnnotationAssertion( "A nutritional condition produced by a deficiency of zinc in the diet. Symptoms include growth and development problems, hair loss, diarrhea, impotence, eye and skin conditions, and loss of appetite. (mayoclinic.org)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000003"^^xsd:string) AnnotationAssertion( "RDO:9001297"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003921"^^xsd:string) AnnotationAssertion(rdfs:label "Zinc Deficiency"^^xsd:string) SubClassOf( ) # Class: (Developmental and Epileptic Encephalopathy 113) AnnotationAssertion(Annotation( "MIM:620772"^^xsd:string) "A disease characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam. Caused by homozygous mutation in the SVA2 gene on chromosome 1q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-04-23T09:25:16Z"^^xsd:string) AnnotationAssertion( "MIM:620772"^^xsd:string) AnnotationAssertion( "DEE113"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003922"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental and Epileptic Encephalopathy 113"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620317"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Patients have postnatal progressive microcephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-06-20T09:37:36Z"^^xsd:string) AnnotationAssertion( "MIM:620317"^^xsd:string) AnnotationAssertion( "NEDMSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003923"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Asymptomatic Diseases) AnnotationAssertion(Annotation( "MESH:D058070"^^xsd:string) "Diseases that do not exhibit symptoms."^^xsd:string) AnnotationAssertion( "MESH:D058070"^^xsd:string) AnnotationAssertion( "Asymptomatic Condition"^^xsd:string) AnnotationAssertion( "Asymptomatic Conditions"^^xsd:string) AnnotationAssertion( "Asymptomatic Disease"^^xsd:string) AnnotationAssertion( "Asymptomatic State"^^xsd:string) AnnotationAssertion( "Asymptomatic States"^^xsd:string) AnnotationAssertion( "Pre-Symptomatic Disease"^^xsd:string) AnnotationAssertion( "Pre-Symptomatic Diseases"^^xsd:string) AnnotationAssertion( "Presymptomatic Disease"^^xsd:string) AnnotationAssertion( "Presymptomatic Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003924"^^xsd:string) AnnotationAssertion(rdfs:label "Asymptomatic Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sandhoff Disease, Infantile Type) AnnotationAssertion( "Infantile Sandhoff Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003926"^^xsd:string) AnnotationAssertion(rdfs:label "Sandhoff Disease, Infantile Type"^^xsd:string) SubClassOf( ) # Class: (Pointer Syndrome) AnnotationAssertion( "MESH:C536323"^^xsd:string) AnnotationAssertion( "Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003927"^^xsd:string) AnnotationAssertion(rdfs:label "Pointer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cytomegalic Inclusion Body Disease) AnnotationAssertion( "MESH:C538505"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003928"^^xsd:string) AnnotationAssertion(rdfs:label "Cytomegalic Inclusion Body Disease"^^xsd:string) SubClassOf( ) # Class: (Basal Cell Neoplasms) AnnotationAssertion(Annotation( "MESH:D018295"^^xsd:string) "Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale."^^xsd:string) AnnotationAssertion( "RDO:0002170"^^xsd:string) AnnotationAssertion( "EFO:1001763"^^xsd:string) AnnotationAssertion( "MESH:D018295"^^xsd:string) AnnotationAssertion( "basal cell neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003929"^^xsd:string) AnnotationAssertion(rdfs:label "Basal Cell Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Familial Myoclonus 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-21T14:27:19Z"^^xsd:string) AnnotationAssertion( "MIM:618364"^^xsd:string) AnnotationAssertion( "MYOCL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003930"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Myoclonus 2"^^xsd:string) SubClassOf( ) # Class: (Tatsumi Factor Deficiency) AnnotationAssertion( "MIM:272650"^^xsd:string) AnnotationAssertion( "MESH:C564787"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003931"^^xsd:string) AnnotationAssertion(rdfs:label "Tatsumi Factor Deficiency"^^xsd:string) SubClassOf( ) # Class: (Facial Pain) AnnotationAssertion(Annotation( "MESH:D005157"^^xsd:string) "Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES."^^xsd:string) AnnotationAssertion( "EFO:0009625"^^xsd:string) AnnotationAssertion( "MESH:D005157"^^xsd:string) AnnotationAssertion( "Craniofacial Pain"^^xsd:string) AnnotationAssertion( "Face Pain"^^xsd:string) AnnotationAssertion( "Myofacial Pain"^^xsd:string) AnnotationAssertion( "Neuralgic Facial Pain"^^xsd:string) AnnotationAssertion( "Orofacial Pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003932"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Pain"^^xsd:string) SubClassOf( ) # Class: (Benign Cerebellar Ataxia with Thermoanalgesia) AnnotationAssertion( "MIM:212890"^^xsd:string) AnnotationAssertion( "MESH:C565868"^^xsd:string) AnnotationAssertion( "Cerebellar Ataxia with Loss of Pain and Temperature Sensation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003933"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Cerebellar Ataxia with Thermoanalgesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mehes Syndrome) AnnotationAssertion( "MESH:C536146"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003934"^^xsd:string) AnnotationAssertion(rdfs:label "Mehes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myokymia) AnnotationAssertion(Annotation( "MESH:D020385"^^xsd:string) "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)"^^xsd:string) AnnotationAssertion( "MESH:D020385"^^xsd:string) AnnotationAssertion( "Fibrillary Chorea"^^xsd:string) AnnotationAssertion( "Fibrillary Choreas"^^xsd:string) AnnotationAssertion( "Generalized Myokymia"^^xsd:string) AnnotationAssertion( "Generalized Myokymias"^^xsd:string) AnnotationAssertion( "Kymatism"^^xsd:string) AnnotationAssertion( "Kymatisms"^^xsd:string) AnnotationAssertion( "Morvan Chorea"^^xsd:string) AnnotationAssertion( "Morvan Choreas"^^xsd:string) AnnotationAssertion( "Morvan Fibrillary Chorea"^^xsd:string) AnnotationAssertion( "Morvan's Chorea"^^xsd:string) AnnotationAssertion( "Morvan's Choreas"^^xsd:string) AnnotationAssertion( "Morvan's Fibrillary Chorea"^^xsd:string) AnnotationAssertion( "Morvans Chorea"^^xsd:string) AnnotationAssertion( "Morvans Fibrillary Chorea"^^xsd:string) AnnotationAssertion( "Myokymias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003935"^^xsd:string) AnnotationAssertion(rdfs:label "Myokymia"^^xsd:string) SubClassOf( ) # Class: (Cardiomegaly) AnnotationAssertion(Annotation( "MESH:D006332"^^xsd:string) "Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES."^^xsd:string) AnnotationAssertion( "EFO:0002503"^^xsd:string) AnnotationAssertion( "MESH:D006332"^^xsd:string) AnnotationAssertion( "Cardiac Hypertrophy"^^xsd:string) AnnotationAssertion( "Enlarged Heart"^^xsd:string) AnnotationAssertion( "Heart Enlargement"^^xsd:string) AnnotationAssertion( "Heart Hypertrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003936"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X Chromosome, Trisomy Xq25) AnnotationAssertion( "MIM:300979"^^xsd:string) AnnotationAssertion( "MESH:C536733"^^xsd:string) AnnotationAssertion( "Duplication Xq25"^^xsd:string) AnnotationAssertion( "Trisomy Xq25"^^xsd:string) AnnotationAssertion( "Xq25 duplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome Xq25 duplication syndrome"^^xsd:string) AnnotationAssertion( "chromosome Xq25 triplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003937"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Trisomy Xq25"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Foot Deformities) AnnotationAssertion(Annotation( "MESH:D005530"^^xsd:string) "Alterations or deviations from normal shape or size which result in a disfigurement of the foot."^^xsd:string) AnnotationAssertion( "MESH:D005530"^^xsd:string) AnnotationAssertion( "RDO:0000726"^^xsd:string) AnnotationAssertion( "Foot Deformity"^^xsd:string) AnnotationAssertion( "Metatarsal Deformities"^^xsd:string) AnnotationAssertion( "Metatarsal Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003938"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Deformities"^^xsd:string) SubClassOf( ) # Class: (BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619690"^^xsd:string) "This is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals have absent language, poor or absent social skills, and behavioral abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-10T13:53:21Z"^^xsd:string) AnnotationAssertion( "MIM:619690"^^xsd:string) AnnotationAssertion( "BRUWAG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003939"^^xsd:string) AnnotationAssertion(rdfs:label "BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Larva Migrans) AnnotationAssertion(Annotation( "MESH:D007815"^^xsd:string) "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans."^^xsd:string) AnnotationAssertion( "MESH:D007815"^^xsd:string) AnnotationAssertion( "Creeping Eruption"^^xsd:string) AnnotationAssertion( "Creeping Eruptions"^^xsd:string) AnnotationAssertion( "Cutaneous Larva Migrans"^^xsd:string) AnnotationAssertion( "Dew Itch"^^xsd:string) AnnotationAssertion( "Dew Itchs"^^xsd:string) AnnotationAssertion( "Ground Itch"^^xsd:string) AnnotationAssertion( "Ground Itchs"^^xsd:string) AnnotationAssertion( "Ocular Larva Migrans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003940"^^xsd:string) AnnotationAssertion(rdfs:label "Larva Migrans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 5) AnnotationAssertion( "MIM:608474"^^xsd:string) AnnotationAssertion( "MESH:C563922"^^xsd:string) AnnotationAssertion( "MYOPIA 5, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003941"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 5"^^xsd:string) SubClassOf( ) # Class: (Esophageal Ring, Lower) AnnotationAssertion( "MIM:133240"^^xsd:string) AnnotationAssertion( "MESH:C562765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003942"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Ring, Lower"^^xsd:string) SubClassOf( ) # Class: (Diploid-Triploid Mosaicism) AnnotationAssertion( "MESH:C548012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003943"^^xsd:string) AnnotationAssertion(rdfs:label "Diploid-Triploid Mosaicism"^^xsd:string) SubClassOf( ) # Class: (Connective Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D009372"^^xsd:string) "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue."^^xsd:string) AnnotationAssertion( "MESH:D009372"^^xsd:string) AnnotationAssertion( "connective tissue neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of connective tissues"^^xsd:string) AnnotationAssertion( "tumour of connective tissue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003944"^^xsd:string) AnnotationAssertion(rdfs:label "Connective Tissue Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities) AnnotationAssertion(Annotation( "MIM:620191"^^xsd:string) "An autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Caused by homozygous or compound heterozygous mutation in the PGM2L1 gene on chromosome 11q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-16T10:17:48Z"^^xsd:string) AnnotationAssertion( "MIM:620191"^^xsd:string) AnnotationAssertion( "NEDHFS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003945"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Platelet-Type Bleeding Disorder 21) AnnotationAssertion( "A hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617443"^^xsd:string) AnnotationAssertion( "BDPLT21"^^xsd:string) AnnotationAssertion( "platelet-type bleeding disorder 21, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003946"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Type Bleeding Disorder 21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parasitic Lung Diseases) AnnotationAssertion(Annotation( "MESH:D008174"^^xsd:string) "Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS)."^^xsd:string) AnnotationAssertion( "MESH:D008174"^^xsd:string) AnnotationAssertion( "Lung Parasitic Infection"^^xsd:string) AnnotationAssertion( "Lung Parasitic Infections"^^xsd:string) AnnotationAssertion( "Parasitic Infections of Lung"^^xsd:string) AnnotationAssertion( "Parasitic Lung Disease"^^xsd:string) AnnotationAssertion( "Pulmonary Parasitic Infection"^^xsd:string) AnnotationAssertion( "Pulmonary Parasitic Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003947"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Lung Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 89) AnnotationAssertion(Annotation( "MIM:620284"^^xsd:string) "A nonsyndromic progressive age-related hearing loss, with onset at birth or in early childhood, caused by heterozygous mutation in the ATOH1 gene on chromosome 4q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-14T10:10:27Z"^^xsd:string) AnnotationAssertion( "MIM:620284"^^xsd:string) AnnotationAssertion( "DFNA89"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003948"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 89"^^xsd:string) SubClassOf( ) # Class: (Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome) AnnotationAssertion( "MIM:615381"^^xsd:string) AnnotationAssertion( "RDO:9000925"^^xsd:string) AnnotationAssertion( "MDPL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003949"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hyperaldosteronism, Type IV) AnnotationAssertion( "CACNA1H-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:617027"^^xsd:string) AnnotationAssertion( "ALDOSTERONISM, PRIMARY, AND HYPERTENSION"^^xsd:string) AnnotationAssertion( "FH IV"^^xsd:string) AnnotationAssertion( "HALD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003950"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperaldosteronism, Type IV"^^xsd:string) SubClassOf( ) # Class: (Auriculoosteodysplasia) AnnotationAssertion( "MIM:109000"^^xsd:string) AnnotationAssertion( "MESH:C538271"^^xsd:string) AnnotationAssertion( "Auriculo-osteodysplasia"^^xsd:string) AnnotationAssertion( "Multiple osseous dysplasia, characteristic ear shape, and short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003951"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculoosteodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Verheij Syndrome) AnnotationAssertion( "MIM:615583"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY-CARDIAC ANOMALIES-SHORT STATURE-JOINT LAXITY SYNDROME"^^xsd:string) AnnotationAssertion( "VRJS"^^xsd:string) AnnotationAssertion( "chromosome 8q24.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003952"^^xsd:string) AnnotationAssertion(rdfs:label "Verheij Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Surfactant Dysfunction) AnnotationAssertion( "MESH:C580477"^^xsd:string) AnnotationAssertion( "RDO:0015934"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease Due To Surfactant Deficiency"^^xsd:string) AnnotationAssertion( "Pulmonary Surfactant Metabolism Dysfunction"^^xsd:string) AnnotationAssertion( "Surfactant Metabolism Deficiency"^^xsd:string) AnnotationAssertion( "PULMONARY SURFACTANT METABOLISM DYSFUNCTION, RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003953"^^xsd:string) AnnotationAssertion(rdfs:label "Surfactant Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Respiratory Acidosis) AnnotationAssertion(Annotation( "MESH:D000142"^^xsd:string) "Respiratory retention of carbon dioxide. It may be chronic or acute."^^xsd:string) AnnotationAssertion( "RDO:0004707"^^xsd:string) AnnotationAssertion( "MESH:D000142"^^xsd:string) AnnotationAssertion( "Respiratory Acidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003954"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 7, monosomy 7q3) AnnotationAssertion( "MESH:C537817"^^xsd:string) AnnotationAssertion( "Deletion 7q3"^^xsd:string) AnnotationAssertion( "Monosomy 7q3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003955"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, monosomy 7q3"^^xsd:string) SubClassOf( ) # Class: (Lynch Lee Murday syndrome) AnnotationAssertion( "RDO:0003601"^^xsd:string) AnnotationAssertion( "MESH:C537713"^^xsd:string) AnnotationAssertion( "Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003956"^^xsd:string) AnnotationAssertion(rdfs:label "Lynch Lee Murday syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 5, Uniparental Disomy) AnnotationAssertion( "MESH:C537762"^^xsd:string) AnnotationAssertion( "RDO:0003660"^^xsd:string) AnnotationAssertion( "Mosaic trisomy of chromosome 5"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003957"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 5, Uniparental Disomy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Muscular Dystrophy with Rapid Progression) AnnotationAssertion( "MIM:254100"^^xsd:string) AnnotationAssertion( "MESH:C564983"^^xsd:string) AnnotationAssertion( "MDRP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003958"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy with Rapid Progression"^^xsd:string) SubClassOf( ) # Class: (Ventricular Septal Defect 1) AnnotationAssertion( "MIM:614429"^^xsd:string) AnnotationAssertion( "VSD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003959"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Septal Defect 1"^^xsd:string) SubClassOf( ) # Class: (Trisomy) AnnotationAssertion(Annotation( "MESH:D014314"^^xsd:string) "The possession of a third chromosome of any one type in an otherwise diploid cell."^^xsd:string) AnnotationAssertion( "MESH:D014314"^^xsd:string) AnnotationAssertion( "Chromosomal Triplication"^^xsd:string) AnnotationAssertion( "Partial Trisomies"^^xsd:string) AnnotationAssertion( "Partial Trisomy"^^xsd:string) AnnotationAssertion( "chromosomal triplications"^^xsd:string) AnnotationAssertion( "trisomies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003960"^^xsd:string) AnnotationAssertion(rdfs:label "Trisomy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lower Urinary Tract Symptoms) AnnotationAssertion(Annotation( "MESH:D059411"^^xsd:string) "Symptoms of disorders of the lower urinary tract including frequency, NOCTURIA; urgency, incomplete voiding, and URINARY INCONTINENCE. They are often associated with OVERACTIVE BLADDER; URINARY INCOMPETENCE; and INTERSTITIAL CYSTITIS. Lower urinary tract symptoms in males were traditionally called PROSTATISM."^^xsd:string) AnnotationAssertion( "EFO:0008008"^^xsd:string) AnnotationAssertion( "MESH:D059411"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003962"^^xsd:string) AnnotationAssertion(rdfs:label "Lower Urinary Tract Symptoms"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 81) AnnotationAssertion(Annotation( "MIM:620277"^^xsd:string) "A male infertility due to oligoasthenoteratozoospermia. Caused by homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-08T12:54:53Z"^^xsd:string) AnnotationAssertion( "MIM:620277"^^xsd:string) AnnotationAssertion( "SPGF81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003963"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 81"^^xsd:string) SubClassOf( ) # Class: (Reticular Pigmentary Retinal Dystrophy of Posterior Pole) AnnotationAssertion( "MIM:267800"^^xsd:string) AnnotationAssertion( "MESH:C564844"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003964"^^xsd:string) AnnotationAssertion(rdfs:label "Reticular Pigmentary Retinal Dystrophy of Posterior Pole"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY) AnnotationAssertion(Annotation( "MIM:620371"^^xsd:string) "This disease is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Those patients that survive until birth show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-07-18T13:18:27Z"^^xsd:string) AnnotationAssertion( "MIM:620371"^^xsd:string) AnnotationAssertion( "NEDIHSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003965"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY"^^xsd:string) SubClassOf( ) # Class: (Anophthalmia Plus Syndrome) AnnotationAssertion( "MIM:600776"^^xsd:string) AnnotationAssertion( "MESH:C537767"^^xsd:string) AnnotationAssertion( "Fryns Microphthalmia Syndrome"^^xsd:string) AnnotationAssertion( "Fryns anophthalmia syndrome"^^xsd:string) AnnotationAssertion( "Microphthalmia with Facial Clefting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003966"^^xsd:string) AnnotationAssertion(rdfs:label "Anophthalmia Plus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Stress-Induced Hypertension) AnnotationAssertion( "High blood pressure associated with physical or emotional stress."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-08-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "stress hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003968"^^xsd:string) AnnotationAssertion(rdfs:label "Stress-Induced Hypertension"^^xsd:string) SubClassOf( ) # Class: (Peri-Implantitis) AnnotationAssertion(Annotation( "MESH:D057873"^^xsd:string) "An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS."^^xsd:string) AnnotationAssertion( "EFO:1001390"^^xsd:string) AnnotationAssertion( "MESH:D057873"^^xsd:string) AnnotationAssertion( "Peri-Implantitides"^^xsd:string) AnnotationAssertion( "Periimplantitides"^^xsd:string) AnnotationAssertion( "Periimplantitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003969"^^xsd:string) AnnotationAssertion(rdfs:label "Peri-Implantitis"^^xsd:string) SubClassOf( ) # Class: (Preeclampsia/Eclampsia 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T15:15:35Z"^^xsd:string) AnnotationAssertion( "MIM:189800"^^xsd:string) AnnotationAssertion( "PEE1"^^xsd:string) AnnotationAssertion( "PREG1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003970"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclampsia/Eclampsia 1"^^xsd:string) SubClassOf( ) # Class: (Postoperative Pain) AnnotationAssertion(Annotation( "MESH:D010149"^^xsd:string) "Pain during the period after surgery."^^xsd:string) AnnotationAssertion( "MESH:D010149"^^xsd:string) AnnotationAssertion( "Postoperative Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003971"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Pain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Human Herpesvirus Type 6, Integrated) AnnotationAssertion( "MIM:604474"^^xsd:string) AnnotationAssertion( "MESH:C565771"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003972"^^xsd:string) AnnotationAssertion(rdfs:label "Human Herpesvirus Type 6, Integrated"^^xsd:string) SubClassOf( ) # Class: (Childhood-Onset Chorea with Psychomotor Retardation) AnnotationAssertion( "MIM:616939"^^xsd:string) AnnotationAssertion( "COCPMR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003973"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-Onset Chorea with Psychomotor Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DEEAH Syndrome) AnnotationAssertion(Annotation( "MIM:619004"^^xsd:string) "An autosomal recessive multisystemic disorder with onset in early infancy. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Patients also have dysmorphic and myopathic facial features."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-18T14:09:37Z"^^xsd:string) AnnotationAssertion( "MADD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619004"^^xsd:string) AnnotationAssertion( "DEEAH"^^xsd:string) AnnotationAssertion( "developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003974"^^xsd:string) AnnotationAssertion(rdfs:label "DEEAH Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Garret Tripp Syndrome) AnnotationAssertion( "MESH:C535646"^^xsd:string) AnnotationAssertion( "Mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003975"^^xsd:string) AnnotationAssertion(rdfs:label "Garret Tripp Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infectious Bovine Rhinotracheitis) AnnotationAssertion(Annotation( "MESH:D007241"^^xsd:string) "A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT."^^xsd:string) AnnotationAssertion( "RDO:0005886"^^xsd:string) AnnotationAssertion( "MESH:D007241"^^xsd:string) AnnotationAssertion( "Infectious Bovine Rhinotracheitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003976"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Bovine Rhinotracheitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Digestive Signs and Symptoms) AnnotationAssertion(Annotation( "MESH:D012817"^^xsd:string) "Digestive system manifestations of diseases of the gastrointestinal system or of other organs."^^xsd:string) AnnotationAssertion( "RDO:0004763"^^xsd:string) AnnotationAssertion( "MESH:D012817"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003977"^^xsd:string) AnnotationAssertion(rdfs:label "Digestive Signs and Symptoms"^^xsd:string) SubClassOf( ) # Class: (Facio Thoraco Genital Syndrome) AnnotationAssertion( "MIM:227320"^^xsd:string) AnnotationAssertion( "MESH:C536387"^^xsd:string) AnnotationAssertion( "congenital anomalies, involving mainly the face, thorax, and genitalia"^^xsd:string) AnnotationAssertion( "faciothoracogenital syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003978"^^xsd:string) AnnotationAssertion(rdfs:label "Facio Thoraco Genital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopathy, Epilepsy, and Progressive Cerebral Atrophy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-06T09:55:41Z"^^xsd:string) AnnotationAssertion( "MIM:619036"^^xsd:string) AnnotationAssertion( "MEPCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003980"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy, Epilepsy, and Progressive Cerebral Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fryns Syndrome) AnnotationAssertion( "MIM:229850"^^xsd:string) AnnotationAssertion( "GARD:3699"^^xsd:string) AnnotationAssertion( "MESH:C538070"^^xsd:string) AnnotationAssertion( "NCI:C98932"^^xsd:string) AnnotationAssertion( "ORDO:2059"^^xsd:string) AnnotationAssertion( "Diaphragmatic hernia, abnormal face, and distal limb anomalies"^^xsd:string) AnnotationAssertion( "FRNS"^^xsd:string) AnnotationAssertion( "Moerman Van den berghe Fryns syndrome"^^xsd:string) AnnotationAssertion( "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003981"^^xsd:string) AnnotationAssertion(rdfs:label "Fryns Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Restless Legs Syndrome 1) AnnotationAssertion( "MIM:102300"^^xsd:string) AnnotationAssertion( "MESH:C538443"^^xsd:string) AnnotationAssertion( "RLS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:9003982"^^xsd:string) AnnotationAssertion(rdfs:label "Restless Legs Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Cervical Hypertrichosis Neuropathy) AnnotationAssertion( "MESH:C537956"^^xsd:string) AnnotationAssertion( "RDO:0003880"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003983"^^xsd:string) AnnotationAssertion(rdfs:label "Cervical Hypertrichosis Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperpigmentation) AnnotationAssertion(Annotation( "MESH:D017495"^^xsd:string) "Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance."^^xsd:string) AnnotationAssertion( "EFO:0009047"^^xsd:string) AnnotationAssertion( "MESH:D017495"^^xsd:string) AnnotationAssertion( "Hypermelanoses"^^xsd:string) AnnotationAssertion( "Hypermelanosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003984"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperpigmentation"^^xsd:string) SubClassOf( ) # Class: (Sebaceous Gland Hyperplasia, Familial Presenile) AnnotationAssertion( "MIM:601700"^^xsd:string) AnnotationAssertion( "MESH:C537530"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003985"^^xsd:string) AnnotationAssertion(rdfs:label "Sebaceous Gland Hyperplasia, Familial Presenile"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (FG Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-17T13:10:39Z"^^xsd:string) AnnotationAssertion( "MIM:300406"^^xsd:string) AnnotationAssertion( "FGS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003986"^^xsd:string) AnnotationAssertion(rdfs:label "FG Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Gastric Polyposis) AnnotationAssertion( "EFO:1000271"^^xsd:string) AnnotationAssertion( "EFO:1000501"^^xsd:string) AnnotationAssertion( "MESH:C562464"^^xsd:string) AnnotationAssertion( "Gastric Hamartomatous Polyp"^^xsd:string) AnnotationAssertion( "Pyloric Gland Adenoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003987"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Polyposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urethral Obstruction Sequence) AnnotationAssertion( "MESH:C536477"^^xsd:string) AnnotationAssertion( "Early urethral obstruction sequence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003988"^^xsd:string) AnnotationAssertion(rdfs:label "Urethral Obstruction Sequence"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1p34 p32) AnnotationAssertion( "MESH:C535595"^^xsd:string) AnnotationAssertion( "RDO:0000813"^^xsd:string) AnnotationAssertion( "Deletion 1p34 p32"^^xsd:string) AnnotationAssertion( "Monosomy 1p34 p32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003989"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1p34 p32"^^xsd:string) SubClassOf( ) # Class: (X-Linked Spermatogenic Failure 5) AnnotationAssertion(Annotation( "MIM:301099"^^xsd:string) "A male infertility due to asthenoteratozoospermia. Caused by hemizygous mutation in the SSX1 gene on chromosome Xp11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-17T09:21:45Z"^^xsd:string) AnnotationAssertion( "MIM:301099"^^xsd:string) AnnotationAssertion( "SPGFX5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003990"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Spermatogenic Failure 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Pancreatic Lymphoma) AnnotationAssertion( "MIM:602596"^^xsd:string) AnnotationAssertion( "MESH:C566516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003992"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Pancreatic Lymphoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE) AnnotationAssertion(Annotation( "MIM:619903"^^xsd:string) "This disease is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-08-01T09:54:16Z"^^xsd:string) AnnotationAssertion( "MIM:619903"^^xsd:string) AnnotationAssertion( "COMNB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003994"^^xsd:string) AnnotationAssertion(rdfs:label "PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Birth Weight) AnnotationAssertion(Annotation( "MESH:D001724"^^xsd:string) "The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms."^^xsd:string) AnnotationAssertion( "EFO:0004344"^^xsd:string) AnnotationAssertion( "MESH:D001724"^^xsd:string) AnnotationAssertion( "Birth Weights"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Not4Curation"^^xsd:string) AnnotationAssertion( "DOID:9003996"^^xsd:string) AnnotationAssertion(rdfs:label "Birth Weight"^^xsd:string) SubClassOf( ) # Class: (Familial Idiopathic Inflammatory Myopathy) AnnotationAssertion( "MIM:160750"^^xsd:string) AnnotationAssertion( "RDO:0016019"^^xsd:string) AnnotationAssertion( "MESH:C000598744"^^xsd:string) AnnotationAssertion( "Idiopathic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003997"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Idiopathic Inflammatory Myopathy"^^xsd:string) SubClassOf( ) # Class: (Platelet Aggregation, Spontaneous) AnnotationAssertion( "MIM:173400"^^xsd:string) AnnotationAssertion( "MESH:C566800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003998"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Aggregation, Spontaneous"^^xsd:string) SubClassOf( ) # Class: (Femur Fibula Ulna Syndrome) AnnotationAssertion( "MIM:228200"^^xsd:string) AnnotationAssertion( "MESH:C537918"^^xsd:string) AnnotationAssertion( "FFU syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9003999"^^xsd:string) AnnotationAssertion(rdfs:label "Femur Fibula Ulna Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Senior-Loken Syndrome 7) AnnotationAssertion( "SDCCAG8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:613615"^^xsd:string) AnnotationAssertion( "SLSN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004000"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Facial Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D020220"^^xsd:string) "Traumatic injuries to the facial nerve. This may result in FACIAL PARALYSIS, decreased lacrimation and salivation, and loss of taste sensation in the anterior tongue. The nerve may regenerate and reform its original pattern of innervation, or regenerate aberrantly, resulting in inappropriate lacrimation in response to gustatory stimuli (e.g., 'crocodile tears') and other syndromes."^^xsd:string) AnnotationAssertion( "MESH:D020220"^^xsd:string) AnnotationAssertion( "RDO:0007357"^^xsd:string) AnnotationAssertion( "Cranial Nerve VII Injuries"^^xsd:string) AnnotationAssertion( "Facial Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Facial Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Facial Nerve Injury"^^xsd:string) AnnotationAssertion( "Facial Nerve Trauma"^^xsd:string) AnnotationAssertion( "Facial Nerve Traumas"^^xsd:string) AnnotationAssertion( "Seventh Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Traumatic Facial Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Facial Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004001"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Short QT Syndrome 7) AnnotationAssertion(Annotation( "MIM:620231"^^xsd:string) "A syndrome characterized by a corrected QT interval of 370 ms or less and a J-point to T-peak less than 140 ms. Caused by heterozygous mutation in the SLC4A3 gene on chromosome 2q35."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-02T09:32:47Z"^^xsd:string) AnnotationAssertion( "MIM:620231"^^xsd:string) AnnotationAssertion( "SLC4A3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SQT7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004002"^^xsd:string) AnnotationAssertion(rdfs:label "Short QT Syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Tooth Demineralization) AnnotationAssertion(Annotation( "MESH:D017001"^^xsd:string) "A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries."^^xsd:string) AnnotationAssertion( "MESH:D017001"^^xsd:string) AnnotationAssertion( "Tooth Hypomineralization"^^xsd:string) AnnotationAssertion( "Tooth Hypomineralizations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004003"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Demineralization"^^xsd:string) SubClassOf( ) # Class: (Water-Electrolyte Imbalance) AnnotationAssertion(Annotation( "MESH:D014883"^^xsd:string) "Disturbances in the body's WATER-ELECTROLYTE BALANCE."^^xsd:string) AnnotationAssertion( "MESH:D014883"^^xsd:string) AnnotationAssertion( "RDO:0005318"^^xsd:string) AnnotationAssertion( "Water-Electrolyte Imbalances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004004"^^xsd:string) AnnotationAssertion(rdfs:label "Water-Electrolyte Imbalance"^^xsd:string) SubClassOf( ) # Class: (Familial Ossicular Malformations) AnnotationAssertion( "MIM:165680"^^xsd:string) AnnotationAssertion( "MESH:C537142"^^xsd:string) AnnotationAssertion( "Familial middle ear ossicular anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004005"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Ossicular Malformations"^^xsd:string) SubClassOf( ) # Class: (Chondrodysplasia Punctata, Tibia-Metacarpal Type) AnnotationAssertion( "MIM:118651"^^xsd:string) AnnotationAssertion( "RDO:0012451"^^xsd:string) AnnotationAssertion( "MESH:C562961"^^xsd:string) AnnotationAssertion( "chondrodysplasia punctata, MT type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004006"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrodysplasia Punctata, Tibia-Metacarpal Type"^^xsd:string) SubClassOf( ) # Class: (Nabais Sa-de Vries Syndrome, Type 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-15T14:46:50Z"^^xsd:string) AnnotationAssertion( "MIM:618829"^^xsd:string) AnnotationAssertion( "NEDMACE"^^xsd:string) AnnotationAssertion( "NSDVS2"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004007"^^xsd:string) AnnotationAssertion(rdfs:label "Nabais Sa-de Vries Syndrome, Type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Reperfusion Injury) AnnotationAssertion(Annotation( "MESH:D015427"^^xsd:string) "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (REPERFUSION), including swelling; HEMORRHAGE; NECROSIS; and damage from FREE RADICALS. The most common instance is MYOCARDIAL REPERFUSION INJURY."^^xsd:string) AnnotationAssertion( "EFO:0002687"^^xsd:string) AnnotationAssertion( "MESH:D015427"^^xsd:string) AnnotationAssertion( "Ischemia Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Ischemia-Reperfusion Injuries"^^xsd:string) AnnotationAssertion( "Reperfusion Damage"^^xsd:string) AnnotationAssertion( "Reperfusion Damages"^^xsd:string) AnnotationAssertion( "Reperfusion Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004009"^^xsd:string) AnnotationAssertion(rdfs:label "Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Intellectual Developmental Disorder 71) AnnotationAssertion(Annotation( "MIM:620330"^^xsd:string) "A neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development, caused by heterozygous mutation in the RFX7 gene on chromosome 15q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-21T09:20:19Z"^^xsd:string) AnnotationAssertion( "MIM:620330"^^xsd:string) AnnotationAssertion( "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"^^xsd:string) AnnotationAssertion( "MRD71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004011"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 71"^^xsd:string) SubClassOf( ) # Class: (Nervous System Lead Poisoning, Adult) AnnotationAssertion(Annotation( "MESH:D020265"^^xsd:string) "Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212)"^^xsd:string) AnnotationAssertion( "MESH:D020265"^^xsd:string) AnnotationAssertion( "Adult Neurologic Saturnism"^^xsd:string) AnnotationAssertion( "Lead Induced Nervous System Diseases, Adult"^^xsd:string) AnnotationAssertion( "Lead Induced Polyneuropathy"^^xsd:string) AnnotationAssertion( "Lead Polyneuropathy"^^xsd:string) AnnotationAssertion( "Lead-Induced Polyneuropathies"^^xsd:string) AnnotationAssertion( "Nervous System Toxicity, Lead, Adult"^^xsd:string) AnnotationAssertion( "Neurologic Lead Poisoning, Adult"^^xsd:string) AnnotationAssertion( "Neurologic Plumbism, Adult"^^xsd:string) AnnotationAssertion( "Neurotoxicity Syndrome, Lead, Adult"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004012"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Lead Poisoning, Adult"^^xsd:string) SubClassOf( ) # Class: (Aplasia or Hypoplasia of Breasts and/or Nipples 1) AnnotationAssertion( "MIM:113700"^^xsd:string) AnnotationAssertion( "MESH:C535565"^^xsd:string) AnnotationAssertion( "BNAH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004013"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia or Hypoplasia of Breasts and/or Nipples 1"^^xsd:string) SubClassOf( ) # Class: (Adducted Thumbs Syndrome) AnnotationAssertion( "MIM:201550"^^xsd:string) AnnotationAssertion( "MIM:314100"^^xsd:string) AnnotationAssertion( "MESH:C562949"^^xsd:string) AnnotationAssertion( "congenital clasped thumbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004014"^^xsd:string) AnnotationAssertion(rdfs:label "Adducted Thumbs Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stevenson-Carey Syndrome) AnnotationAssertion( "MIM:611961"^^xsd:string) AnnotationAssertion( "MESH:C567446"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004015"^^xsd:string) AnnotationAssertion(rdfs:label "Stevenson-Carey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wiskott-Aldrich Syndrome 2) AnnotationAssertion( "MIM:614493"^^xsd:string) AnnotationAssertion( "RDO:9000858"^^xsd:string) AnnotationAssertion( "WAS2"^^xsd:string) AnnotationAssertion( "WIPF1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004016"^^xsd:string) AnnotationAssertion(rdfs:label "Wiskott-Aldrich Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Chronic Hepatitis C) AnnotationAssertion(Annotation( "MESH:D019698"^^xsd:string) "INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS."^^xsd:string) AnnotationAssertion( "EFO:0004220"^^xsd:string) AnnotationAssertion( "MESH:D019698"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004017"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Hepatitis C"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paraquat Lung) AnnotationAssertion( "MESH:C537171"^^xsd:string) AnnotationAssertion( "Paraquat induced lung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004018"^^xsd:string) AnnotationAssertion(rdfs:label "Paraquat Lung"^^xsd:string) SubClassOf( ) # Class: (Panostotic Fibrous Dysplasia) AnnotationAssertion( "MESH:C537164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004019"^^xsd:string) AnnotationAssertion(rdfs:label "Panostotic Fibrous Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epidermodysplasia Verruciformis 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-14T15:52:36Z"^^xsd:string) AnnotationAssertion( "MIM:226400"^^xsd:string) AnnotationAssertion( "EV1"^^xsd:string) AnnotationAssertion( "TMC6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "epidermodysplasia verruciformis, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:9004020"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis 1"^^xsd:string) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 5) AnnotationAssertion( "MIM:613269"^^xsd:string) AnnotationAssertion( "MESH:C567676"^^xsd:string) AnnotationAssertion( "FCD3 locus"^^xsd:string) AnnotationAssertion( "FECD5"^^xsd:string) AnnotationAssertion( "Fuchs endothelial corneal dystrophy, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004021"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 5"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Jagell Holmgren Hofer Syndrome) AnnotationAssertion( "MIM:242510"^^xsd:string) AnnotationAssertion( "MESH:C537364"^^xsd:string) AnnotationAssertion( "ichthyosis alopecia eclabion ectropion mental retardation"^^xsd:string) AnnotationAssertion( "ichthyosis with alopecia, eclabion, ectropion, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004023"^^xsd:string) AnnotationAssertion(rdfs:label "Jagell Holmgren Hofer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1q32 q42) AnnotationAssertion( "MESH:C537671"^^xsd:string) AnnotationAssertion( "RDO:0003551"^^xsd:string) AnnotationAssertion( "Deletion 1q32 q42"^^xsd:string) AnnotationAssertion( "Monosomy 1q32 q42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004024"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1q32 q42"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis) AnnotationAssertion( "MIM:615821"^^xsd:string) AnnotationAssertion( "DCWHKTA"^^xsd:string) AnnotationAssertion( "dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004026"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (SUNCT Syndrome) AnnotationAssertion(Annotation( "MESH:D050798"^^xsd:string) "A primary headache disorder that is characterized by frequent short-lasting, unilateral, neuralgiform pain attacks in the ocular area, with CONJUNCTIVA fluid-filling and tearing. SUNCT syndrome is usually resistant to treatment."^^xsd:string) AnnotationAssertion( "MESH:D050798"^^xsd:string) AnnotationAssertion( "SUNCT Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004027"^^xsd:string) AnnotationAssertion(rdfs:label "SUNCT Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alice in Wonderland Syndrome) AnnotationAssertion(Annotation( "MESH:D062026"^^xsd:string) "Neurological condition characterized by disturbances in VISUAL PERCEPTION, most often of BODY SCHEMA, TIME PERCEPTION and HALLUCINATIONS. It is associated with MIGRAINE, infections (e.g., INFECTIOUS MONONUCLEOSIS), FEVER, EPILEPSY, and other neurological and psychiatric disorders."^^xsd:string) AnnotationAssertion( "MESH:D062026"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004028"^^xsd:string) AnnotationAssertion(rdfs:label "Alice in Wonderland Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 9) AnnotationAssertion( "MESH:C566387"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004029"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 9"^^xsd:string) SubClassOf( ) # Class: (Pituitary Stalk Interruption Syndrome) AnnotationAssertion( "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. (MedGen)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "PSIS"^^xsd:string) AnnotationAssertion( "EPP"^^xsd:string) AnnotationAssertion( "Ectopic neurohypophysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004030"^^xsd:string) AnnotationAssertion(rdfs:label "Pituitary Stalk Interruption Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anomalous Coracoclavicular Joint) AnnotationAssertion( "MIM:121350"^^xsd:string) AnnotationAssertion( "MESH:C565161"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004031"^^xsd:string) AnnotationAssertion(rdfs:label "Anomalous Coracoclavicular Joint"^^xsd:string) SubClassOf( ) # Class: (HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT) AnnotationAssertion( "MIM:617384"^^xsd:string) AnnotationAssertion( "NCI:C159654"^^xsd:string) AnnotationAssertion( "DNAJC12-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPANBH4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004032"^^xsd:string) AnnotationAssertion(rdfs:label "HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT"^^xsd:string) SubClassOf( ) # Class: (Distal Myopathy 6) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-11T09:13:46Z"^^xsd:string) AnnotationAssertion( "MIM:618655"^^xsd:string) AnnotationAssertion( "MPD6"^^xsd:string) AnnotationAssertion( "adult onset distal myopathy 6"^^xsd:string) AnnotationAssertion( "autosomal dominant adult-onset distal myopathy 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004033"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Myopathy 6"^^xsd:string) SubClassOf( ) # Class: (Alacrima) AnnotationAssertion( "MESH:C562827"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004034"^^xsd:string) AnnotationAssertion(rdfs:label "Alacrima"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Segawa Syndrome, Autosomal Recessive) AnnotationAssertion( "MIM:605407"^^xsd:string) AnnotationAssertion( "MESH:C537537"^^xsd:string) AnnotationAssertion( "NCI:C157158"^^xsd:string) AnnotationAssertion( "Dopa-Responsive Dystonia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Th-Deficient Drd"^^xsd:string) AnnotationAssertion( "infantile parkinsonism, autosomal recessive"^^xsd:string) AnnotationAssertion( "tyrosine hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004035"^^xsd:string) AnnotationAssertion(rdfs:label "Segawa Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Superinfection) AnnotationAssertion(Annotation( "MESH:D015163"^^xsd:string) "A frequent complication of drug therapy for microbial infection. It may result from opportunistic colonization following immunosuppression by the primary pathogen and can be influenced by the time interval between infections, microbial physiology, or host resistance. Experimental challenge and in vitro models are sometimes used in virulence and infectivity studies."^^xsd:string) AnnotationAssertion( "MESH:D015163"^^xsd:string) AnnotationAssertion( "Microbial Superinvasion"^^xsd:string) AnnotationAssertion( "Microbial Superinvasions"^^xsd:string) AnnotationAssertion( "Superinfections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004036"^^xsd:string) AnnotationAssertion(rdfs:label "Superinfection"^^xsd:string) SubClassOf( ) # Class: (Hemangiomas of Small Intestine) AnnotationAssertion( "MIM:140900"^^xsd:string) AnnotationAssertion( "MESH:C564201"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004037"^^xsd:string) AnnotationAssertion(rdfs:label "Hemangiomas of Small Intestine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kashin-Beck Disease) AnnotationAssertion(Annotation( "MESH:D057767"^^xsd:string) "Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology."^^xsd:string) AnnotationAssertion( "EFO:0006511"^^xsd:string) AnnotationAssertion( "MESH:D057767"^^xsd:string) AnnotationAssertion( "RDO:0007791"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004038"^^xsd:string) AnnotationAssertion(rdfs:label "Kashin-Beck Disease"^^xsd:string) SubClassOf( ) # Class: (Marfan Syndrome Type 2) AnnotationAssertion( "Marfan like connective tissue disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004039"^^xsd:string) AnnotationAssertion(rdfs:label "Marfan Syndrome Type 2"^^xsd:string) SubClassOf( ) # Class: (Parasomnias) AnnotationAssertion(Annotation( "MESH:D020447"^^xsd:string) "Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)"^^xsd:string) AnnotationAssertion( "MESH:D020447"^^xsd:string) AnnotationAssertion( "Benign Neonatal Sleep Myoclonus"^^xsd:string) AnnotationAssertion( "Parasomnia"^^xsd:string) AnnotationAssertion( "Sleep Drunkenness"^^xsd:string) AnnotationAssertion( "Sleep Drunkennesses"^^xsd:string) AnnotationAssertion( "Sleep Related Abnormal Swallowing Syndrome"^^xsd:string) AnnotationAssertion( "Sleep Sensory Paroxysm"^^xsd:string) AnnotationAssertion( "Sleep Sensory Paroxysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004040"^^xsd:string) AnnotationAssertion(rdfs:label "Parasomnias"^^xsd:string) SubClassOf( ) # Class: (Mucolipidosis III Alpha Beta, Atypical) AnnotationAssertion( "MESH:C567099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004041"^^xsd:string) AnnotationAssertion(rdfs:label "Mucolipidosis III Alpha Beta, Atypical"^^xsd:string) SubClassOf( ) # Class: (Olfaction Disorders) AnnotationAssertion(Annotation( "MESH:D000857"^^xsd:string) "Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D000857"^^xsd:string) AnnotationAssertion( "RDO:0001237"^^xsd:string) AnnotationAssertion( "Anosmia"^^xsd:string) AnnotationAssertion( "Cacosmia"^^xsd:string) AnnotationAssertion( "Cacosmias"^^xsd:string) AnnotationAssertion( "Dysosmia"^^xsd:string) AnnotationAssertion( "Dysosmias"^^xsd:string) AnnotationAssertion( "Olfaction Disorder"^^xsd:string) AnnotationAssertion( "Paraosmia"^^xsd:string) AnnotationAssertion( "Paraosmias"^^xsd:string) AnnotationAssertion( "Smell Disorder"^^xsd:string) AnnotationAssertion( "Smell Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004042"^^xsd:string) AnnotationAssertion(rdfs:label "Olfaction Disorders"^^xsd:string) SubClassOf( ) # Class: (Seckel Like Syndrome Type Buebel) AnnotationAssertion( "MESH:C537532"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004043"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel Like Syndrome Type Buebel"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly) AnnotationAssertion( "Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. LBNBG, or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene on chromosome 5q31. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:186550"^^xsd:string) AnnotationAssertion( "MESH:C566090"^^xsd:string) AnnotationAssertion( "Brachydactyly with Joint Dysplasia"^^xsd:string) AnnotationAssertion( "LBNBG"^^xsd:string) AnnotationAssertion( "Liebenberg Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004044"^^xsd:string) AnnotationAssertion(rdfs:label "Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Frontoocular Syndrome) AnnotationAssertion( "MIM:605321"^^xsd:string) AnnotationAssertion( "MESH:C565340"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004045"^^xsd:string) AnnotationAssertion(rdfs:label "Frontoocular Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly-Capillary Malformation Syndrome) AnnotationAssertion( "MIM:614261"^^xsd:string) AnnotationAssertion( "NCI:C192098"^^xsd:string) AnnotationAssertion( "MICCAP"^^xsd:string) AnnotationAssertion( "STAMBP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004046"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly-Capillary Malformation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Transient Neonatal Hyperparathyroidism) AnnotationAssertion(Annotation( "MIM:618188"^^xsd:string) "A disease characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T17:29:03Z"^^xsd:string) AnnotationAssertion( "MIM:618188"^^xsd:string) AnnotationAssertion( "HRPTTN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004047"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Hyperparathyroidism"^^xsd:string) SubClassOf( ) # Class: (X-Linked Mental Retardation with Isolated Growth Hormone Deficiency) AnnotationAssertion( "MESH:C564712"^^xsd:string) AnnotationAssertion( "X-linked mental retardation with growth hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004048"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Mental Retardation with Isolated Growth Hormone Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Deafness, Neurosensory, Autosomal Recessive 47) AnnotationAssertion( "MESH:C538205"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004051"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Neurosensory, Autosomal Recessive 47"^^xsd:string) SubClassOf( ) # Class: (Chromosome 22, Trisomy) AnnotationAssertion( "MESH:C536799"^^xsd:string) AnnotationAssertion( "NCI:C114765"^^xsd:string) AnnotationAssertion( "RDO:0002490"^^xsd:string) AnnotationAssertion( "Duplication 22"^^xsd:string) AnnotationAssertion( "Trisomy 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004052"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 22, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Auditory Neuropathy 2) AnnotationAssertion(Annotation( "MIM:620384"^^xsd:string) "A disease characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Caused by heterozygous mutation in the ATP11A gene on chromosome 13q34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T15:40:40Z"^^xsd:string) AnnotationAssertion( "MIM:620384"^^xsd:string) AnnotationAssertion( "AUNA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004053"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Auditory Neuropathy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hooft Disease) AnnotationAssertion( "MIM:236300"^^xsd:string) AnnotationAssertion( "MESH:C535329"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004054"^^xsd:string) AnnotationAssertion(rdfs:label "Hooft Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fungal Keratitis) AnnotationAssertion( "Fungal infection of the cornea which can follow from an injury or from wearing contact lenses. It usually develops very quickly, and if left untreated, can cause blindness."^^xsd:string) AnnotationAssertion( "fungal infection of cornea"^^xsd:string) AnnotationAssertion( "keratomycosis"^^xsd:string) AnnotationAssertion( "mycotic keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004055"^^xsd:string) AnnotationAssertion(rdfs:label "Fungal Keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pemphigus erythematosus) AnnotationAssertion(Annotation( "ORPHA:79480"^^xsd:string) "This is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-02T14:30:38Z"^^xsd:string) AnnotationAssertion( "EFO:0008603"^^xsd:string) AnnotationAssertion( "Senear-Usher syndrome"^^xsd:string) AnnotationAssertion( "seborrheic pemphigoid"^^xsd:string) AnnotationAssertion( "seborrheic pemphigus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004056"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus erythematosus"^^xsd:string) SubClassOf( ) # Class: (Facial Abnormalities, Kyphoscoliosis, and Mental Retardation) AnnotationAssertion( "MIM:227250"^^xsd:string) AnnotationAssertion( "MESH:C565580"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004057"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Abnormalities, Kyphoscoliosis, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 98 with Autoinflammation, X-Linked) AnnotationAssertion( "Characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Caused by hemizygous mutation in the TLR8 gene on chromosome Xp22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-22T10:03:23Z"^^xsd:string) AnnotationAssertion( "MIM:301078"^^xsd:string) AnnotationAssertion( "IMD98"^^xsd:string) AnnotationAssertion( "INFLTR8"^^xsd:string) AnnotationAssertion( "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004058"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 98 with Autoinflammation, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eye Neoplasms) AnnotationAssertion(Annotation( "MESH:D005134"^^xsd:string) "Tumors or cancer of the EYE."^^xsd:string) AnnotationAssertion( "EFO:0003824"^^xsd:string) AnnotationAssertion( "EFO:1000369"^^xsd:string) AnnotationAssertion( "MESH:D005134"^^xsd:string) AnnotationAssertion( "eye neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of eye"^^xsd:string) AnnotationAssertion( "neoplasm of eye proper"^^xsd:string) AnnotationAssertion( "ocular tumor"^^xsd:string) AnnotationAssertion( "Melanocytoma of the Eyeball"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004059"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tetrasomy) AnnotationAssertion(Annotation( "MESH:D058670"^^xsd:string) "The possession of four chromosomes of any one type in an otherwise diploid cell."^^xsd:string) AnnotationAssertion( "MESH:D058670"^^xsd:string) AnnotationAssertion( "Partial Tetrasomies"^^xsd:string) AnnotationAssertion( "Partial Tetrasomy"^^xsd:string) AnnotationAssertion( "Tetrasomies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004060"^^xsd:string) AnnotationAssertion(rdfs:label "Tetrasomy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abnormalities, Severe Teratoid) AnnotationAssertion(Annotation( "MESH:D009008"^^xsd:string) "Marked developmental anomalies of a fetus or infant."^^xsd:string) AnnotationAssertion( "MESH:D009008"^^xsd:string) AnnotationAssertion( "RDO:0004840"^^xsd:string) AnnotationAssertion( "Severe Teratoid Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004061"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormalities, Severe Teratoid"^^xsd:string) SubClassOf( ) # Class: (Hyperhidrosis) AnnotationAssertion(Annotation( "MESH:D006945"^^xsd:string) "Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise."^^xsd:string) AnnotationAssertion( "MESH:D006945"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004062"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperhidrosis"^^xsd:string) SubClassOf( ) # Class: (Berk-Tabatznik Syndrome) AnnotationAssertion( "MESH:C535432"^^xsd:string) AnnotationAssertion( "Cleft nare, brachydactyly, short stature-dwarfism"^^xsd:string) AnnotationAssertion( "Congenital optic atrophy and brachytelephalangy"^^xsd:string) AnnotationAssertion( "Kyphosis brachyphalangy optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004063"^^xsd:string) AnnotationAssertion(rdfs:label "Berk-Tabatznik Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ephemeral Fever) AnnotationAssertion(Annotation( "MESH:D004810"^^xsd:string) "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (EPHEMERAL FEVER VIRUS, BOVINE). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness."^^xsd:string) AnnotationAssertion( "EFO:0007258"^^xsd:string) AnnotationAssertion( "MESH:D004810"^^xsd:string) AnnotationAssertion( "RDO:0005502"^^xsd:string) AnnotationAssertion( "Three Day Sickness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004064"^^xsd:string) AnnotationAssertion(rdfs:label "Ephemeral Fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukoencephalopathy with Dystonia and Motor Neuropathy) AnnotationAssertion( "MIM:613724"^^xsd:string) AnnotationAssertion( "RDO:0009956"^^xsd:string) AnnotationAssertion( "RDO:0014956"^^xsd:string) AnnotationAssertion( "MESH:C566654"^^xsd:string) AnnotationAssertion( "LKDMN"^^xsd:string) AnnotationAssertion( "Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient"^^xsd:string) AnnotationAssertion( "SCP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "STEROL CARRIER PROTEIN 2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004065"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathy with Dystonia and Motor Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Stationary Night Blindness 2B) AnnotationAssertion( "MIM:610427"^^xsd:string) AnnotationAssertion( "CRSD"^^xsd:string) AnnotationAssertion( "CSNB2B"^^xsd:string) AnnotationAssertion( "cone-rod synaptic disorder, congenital nonprogressive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, incomplete, autosomal recessive"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004066"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Stationary Night Blindness 2B"^^xsd:string) SubClassOf( ) # Class: (Chilblain Lupus 2) AnnotationAssertion( "SAMHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614415"^^xsd:string) AnnotationAssertion( "CHBL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004067"^^xsd:string) AnnotationAssertion(rdfs:label "Chilblain Lupus 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pathologic Decalcification) AnnotationAssertion(Annotation( "MESH:D003649"^^xsd:string) "The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to calcium loss, as is the presence of diseases such as rheumatoid arthritis."^^xsd:string) AnnotationAssertion( "MESH:D003649"^^xsd:string) AnnotationAssertion( "Pathological Decalcification"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004069"^^xsd:string) AnnotationAssertion(rdfs:label "Pathologic Decalcification"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Townes-Brocks Syndrome 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617466"^^xsd:string) AnnotationAssertion( "TBS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004070"^^xsd:string) AnnotationAssertion(rdfs:label "Townes-Brocks Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Macrophagic Myofasciitis) AnnotationAssertion( "MESH:C537829"^^xsd:string) AnnotationAssertion( "Macrophagic myofasciitis, childhood"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004071"^^xsd:string) AnnotationAssertion(rdfs:label "Macrophagic Myofasciitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Richieri Costa Guion-Almeida Syndrome) AnnotationAssertion( "MIM:268850"^^xsd:string) AnnotationAssertion( "MESH:C535676"^^xsd:string) AnnotationAssertion( "Acrofacial dysostosis Richieri Costa Guion-Almeida type"^^xsd:string) AnnotationAssertion( "Richieri Costa Guion-Almeida dwarfism"^^xsd:string) AnnotationAssertion( "Richieri-Costa Guion-Almeida Cohen syndrome"^^xsd:string) AnnotationAssertion( "Sao Paulo MCA/MR syndrome"^^xsd:string) AnnotationAssertion( "short stature, mental retardation, eye anomalies, and cleft lip/palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004072"^^xsd:string) AnnotationAssertion(rdfs:label "Richieri Costa Guion-Almeida Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (limb injury) AnnotationAssertion(Annotation( "https://www.merriam-webster.com"^^xsd:string) "This is an injury to an arm, leg, wing, or otherwise modified appendage."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-13T10:50:42Z"^^xsd:string) AnnotationAssertion( "EFO:0009509"^^xsd:string) AnnotationAssertion( "limb injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004073"^^xsd:string) AnnotationAssertion(rdfs:label "limb injury"^^xsd:string) SubClassOf( ) # Class: (Triglyceride Storage Disease, Type II) AnnotationAssertion( "MIM:190430"^^xsd:string) AnnotationAssertion( "MESH:C566030"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004074"^^xsd:string) AnnotationAssertion(rdfs:label "Triglyceride Storage Disease, Type II"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation Smith Fineman Myers Type) AnnotationAssertion( "MESH:C537445"^^xsd:string) AnnotationAssertion( "Smith Fineman Myers syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004075"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Smith Fineman Myers Type"^^xsd:string) SubClassOf( ) # Class: (Sinus Tarsi Syndrome) AnnotationAssertion( "MESH:C000604661"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004076"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Tarsi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SHONE COMPLEX) AnnotationAssertion( "Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-11T18:35:00Z"^^xsd:string) AnnotationAssertion( "ORPHA:99063"^^xsd:string) AnnotationAssertion( "SHONE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004077"^^xsd:string) AnnotationAssertion(rdfs:label "SHONE COMPLEX"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Intraepithelial Neoplasia) AnnotationAssertion( "A histologically well-defined precursor to invasive ductal adenocarcinoma of the pancreas."^^xsd:string) AnnotationAssertion( "RDO:9000688"^^xsd:string) AnnotationAssertion( "PanIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004078"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Intraepithelial Neoplasia"^^xsd:string) SubClassOf( ) # Class: (Angiomatosis) AnnotationAssertion(Annotation( "MESH:D000798"^^xsd:string) "A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic."^^xsd:string) AnnotationAssertion( "MESH:D000798"^^xsd:string) AnnotationAssertion( "Angiomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004079"^^xsd:string) AnnotationAssertion(rdfs:label "Angiomatosis"^^xsd:string) SubClassOf( ) # Class: (Aortic Rupture) AnnotationAssertion(Annotation( "MESH:D001019"^^xsd:string) "The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA."^^xsd:string) AnnotationAssertion( "EFO:1001268"^^xsd:string) AnnotationAssertion( "MESH:D001019"^^xsd:string) AnnotationAssertion( "Aortic Ruptures"^^xsd:string) AnnotationAssertion( "Ruptured Aortic Aneurysm"^^xsd:string) AnnotationAssertion( "Ruptured Aortic Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004080"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Rupture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oculotrichodysplasia) AnnotationAssertion( "MIM:257960"^^xsd:string) AnnotationAssertion( "MESH:C564934"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004081"^^xsd:string) AnnotationAssertion(rdfs:label "Oculotrichodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mesenteric Ischemia) AnnotationAssertion(Annotation( "MESH:D065666"^^xsd:string) "Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."^^xsd:string) AnnotationAssertion( "MESH:D065666"^^xsd:string) AnnotationAssertion( "Acute Mesenteric Arterial Embolus"^^xsd:string) AnnotationAssertion( "Acute Mesenteric Arterial Thrombosis"^^xsd:string) AnnotationAssertion( "Mesenteric Ischemias"^^xsd:string) AnnotationAssertion( "Mesenteric Vascular Insufficiencies"^^xsd:string) AnnotationAssertion( "Mesenteric Vascular Insufficiency"^^xsd:string) AnnotationAssertion( "Mesenteric Venous Thromboses"^^xsd:string) AnnotationAssertion( "Mesenteric Venous Thrombosis"^^xsd:string) AnnotationAssertion( "Nonocclusive Mesenteric Ischemia"^^xsd:string) AnnotationAssertion( "Nonocclusive Mesenteric Ischemias"^^xsd:string) AnnotationAssertion( "Occlusive Mesenteric Arterial Ischemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004082"^^xsd:string) AnnotationAssertion(rdfs:label "Mesenteric Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Pancreatic Carcinoma) AnnotationAssertion( "MESH:C535837"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004083"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Pancreatic Carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 11, Partial Trisomy 11q) AnnotationAssertion( "MESH:C538294"^^xsd:string) AnnotationAssertion( "11q Partial Trisomy"^^xsd:string) AnnotationAssertion( "Chromosome 11, Partial Trisomy 11q13-qter"^^xsd:string) AnnotationAssertion( "Chromosome 11, Partial Trisomy 11q21-qter"^^xsd:string) AnnotationAssertion( "Chromosome 11, Partial Trisomy 11q23-qter"^^xsd:string) AnnotationAssertion( "Distal Trisomy 11q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004084"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 11, Partial Trisomy 11q"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (AIDS Dementia Complex) AnnotationAssertion(Annotation( "MESH:D015526"^^xsd:string) "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)"^^xsd:string) AnnotationAssertion( "EFO:0002608"^^xsd:string) AnnotationAssertion( "EFO:0007948"^^xsd:string) AnnotationAssertion( "MESH:D015526"^^xsd:string) AnnotationAssertion( "AIDS Encephalopathies"^^xsd:string) AnnotationAssertion( "AIDS Encephalopathy"^^xsd:string) AnnotationAssertion( "AIDS Related Dementia Complex"^^xsd:string) AnnotationAssertion( "AIDS dementia"^^xsd:string) AnnotationAssertion( "Acquired-Immune Deficiency Syndrome Dementia Complex"^^xsd:string) AnnotationAssertion( "HAND"^^xsd:string) AnnotationAssertion( "HIV 1 Associated Cognitive Motor Complex"^^xsd:string) AnnotationAssertion( "HIV 1 Cognitive and Motor Complex"^^xsd:string) AnnotationAssertion( "HIV Associated Cognitive Motor Complex"^^xsd:string) AnnotationAssertion( "HIV Dementia"^^xsd:string) AnnotationAssertion( "HIV Dementias"^^xsd:string) AnnotationAssertion( "HIV Encephalopathies"^^xsd:string) AnnotationAssertion( "HIV Encephalopathy"^^xsd:string) AnnotationAssertion( "HIV-associated neurocognitive disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004086"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS Dementia Complex"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly) AnnotationAssertion( "MESH:C566119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004087"^^xsd:string) AnnotationAssertion(rdfs:label "Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES) AnnotationAssertion(Annotation( "MIM:619995"^^xsd:string) "This disease is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus ."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T10:02:49Z"^^xsd:string) AnnotationAssertion( "MIM:619995"^^xsd:string) AnnotationAssertion( "NEDITPO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004088"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tufted Angioma) AnnotationAssertion( "MIM:607859"^^xsd:string) AnnotationAssertion( "MESH:C536924"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004090"^^xsd:string) AnnotationAssertion(rdfs:label "Tufted Angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Osteophytes) AnnotationAssertion(Annotation( "MESH:D054850"^^xsd:string) "Bony outgrowth usually found around joints and often seen in conditions such as ARTHRITIS."^^xsd:string) AnnotationAssertion( "RDO:0007689"^^xsd:string) AnnotationAssertion( "MESH:D054850"^^xsd:string) AnnotationAssertion( "bone spur"^^xsd:string) AnnotationAssertion( "bone spurs"^^xsd:string) AnnotationAssertion( "osteophyte"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004091"^^xsd:string) AnnotationAssertion(rdfs:label "Osteophytes"^^xsd:string) SubClassOf( ) # Class: (cryoglobulinemic vasculitis) AnnotationAssertion(Annotation( "PMID:26219420"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000540.htm"^^xsd:string) "A complication of cryoglobulinemia that includes a large spectrum of symptoms, ranging in severity from mild sporadic purpura to damage and inflammation of the blood vessels throughout the body (vasculitis)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-06-15T13:53:46Z"^^xsd:string) AnnotationAssertion( "PMID:26219420"^^xsd:string) AnnotationAssertion( "https://medlineplus.gov/ency/article/000540.htm"^^xsd:string) AnnotationAssertion( "cryoglobulinemia vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004092"^^xsd:string) AnnotationAssertion(rdfs:label "cryoglobulinemic vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Laryngeal Atresia, Encephalocele, and Limb Deformities) AnnotationAssertion( "MIM:607132"^^xsd:string) AnnotationAssertion( "MESH:C564620"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004093"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Atresia, Encephalocele, and Limb Deformities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bangstad Syndrome) AnnotationAssertion( "MIM:210740"^^xsd:string) AnnotationAssertion( "MESH:C537902"^^xsd:string) AnnotationAssertion( "BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004094"^^xsd:string) AnnotationAssertion(rdfs:label "Bangstad Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Seres-Santamaria Arimany Muniz Syndrome) AnnotationAssertion( "MESH:C537585"^^xsd:string) AnnotationAssertion( "Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004095"^^xsd:string) AnnotationAssertion(rdfs:label "Seres-Santamaria Arimany Muniz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Veno-Occlusive Disease) AnnotationAssertion( "RDO:9000761"^^xsd:string) AnnotationAssertion( "venoocclusive disease"^^xsd:string) AnnotationAssertion( "venoocclusive disease after bone marrow transplantation, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004096"^^xsd:string) AnnotationAssertion(rdfs:label "Veno-Occlusive Disease"^^xsd:string) SubClassOf( ) # Class: (Marfanoid Hypermobility Syndrome) AnnotationAssertion( "MIM:154750"^^xsd:string) AnnotationAssertion( "MESH:C531742"^^xsd:string) AnnotationAssertion( "Marfan syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004097"^^xsd:string) AnnotationAssertion(rdfs:label "Marfanoid Hypermobility Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:620098"^^xsd:string) "This disease is a clinically heterogeneous disorder characterized by neurologic deficits and characteristic dysmorphic facial features apparent from infancy or early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-16T09:22:14Z"^^xsd:string) AnnotationAssertion( "MIM:620098"^^xsd:string) AnnotationAssertion( "DIDDF"^^xsd:string) AnnotationAssertion( "JARID2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "JARID2-RELATED NEURODEVELOPMENTAL SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004098"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bulimia) AnnotationAssertion(Annotation( "MESH:D002032"^^xsd:string) "Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as 'ox hunger'."^^xsd:string) AnnotationAssertion( "EFO:0005924"^^xsd:string) AnnotationAssertion( "MESH:D002032"^^xsd:string) AnnotationAssertion( "Binge Eating"^^xsd:string) AnnotationAssertion( "Bulimias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004099"^^xsd:string) AnnotationAssertion(rdfs:label "Bulimia"^^xsd:string) SubClassOf( ) # Class: (Familial Atrial Fibrillation 14) AnnotationAssertion( "MIM:615378"^^xsd:string) AnnotationAssertion( "ATFB14"^^xsd:string) AnnotationAssertion( "SCN2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004100"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 14"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 118) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-01T13:27:32Z"^^xsd:string) AnnotationAssertion( "MIM:619553"^^xsd:string) AnnotationAssertion( "DFNB118"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 118, with cochlear aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004101"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 118"^^xsd:string) SubClassOf( ) # Class: (Duane Retraction Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-02T08:42:31Z"^^xsd:string) AnnotationAssertion( "MIM:126800"^^xsd:string) AnnotationAssertion( "DURS1"^^xsd:string) AnnotationAssertion( "Duane retraction syndrome type 1"^^xsd:string) AnnotationAssertion( "Duane syndrome type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004102"^^xsd:string) AnnotationAssertion(rdfs:label "Duane Retraction Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Malformation 11) AnnotationAssertion( "Characterized by lower extremity edema, with onset in the second or third decade of life. Caused by heterozygous mutation in the TIE1 gene on chromosome 1p34. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-25T15:35:37Z"^^xsd:string) AnnotationAssertion( "MIM:619401"^^xsd:string) AnnotationAssertion( "LMPHM11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004103"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 11"^^xsd:string) SubClassOf( ) # Class: (Tooth Wear) AnnotationAssertion(Annotation( "MESH:D057085"^^xsd:string) "Loss of the tooth substance by chemical or mechanical processes"^^xsd:string) AnnotationAssertion( "MESH:D057085"^^xsd:string) AnnotationAssertion( "Dental Wear"^^xsd:string) AnnotationAssertion( "Dental Wears"^^xsd:string) AnnotationAssertion( "Tooth Wears"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004104"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Wear"^^xsd:string) SubClassOf( ) # Class: (Symphalangism, C. S. Lewis Type) AnnotationAssertion( "MIM:185650"^^xsd:string) AnnotationAssertion( "MESH:C566100"^^xsd:string) AnnotationAssertion( "stiff thumbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004105"^^xsd:string) AnnotationAssertion(rdfs:label "Symphalangism, C. S. Lewis Type"^^xsd:string) SubClassOf( ) # Class: (White Heifer Disease) AnnotationAssertion(Annotation( "MESH:D050072"^^xsd:string) "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile."^^xsd:string) AnnotationAssertion( "MESH:D050072"^^xsd:string) AnnotationAssertion( "RDO:0007566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004106"^^xsd:string) AnnotationAssertion(rdfs:label "White Heifer Disease"^^xsd:string) SubClassOf( ) # Class: (Morillo-Cucci Passarge Syndrome) AnnotationAssertion( "MESH:C536983"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004107"^^xsd:string) AnnotationAssertion(rdfs:label "Morillo-Cucci Passarge Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fused Kidney) AnnotationAssertion(Annotation( "MESH:D000069337"^^xsd:string) "Congenital fusion of two kidneys."^^xsd:string) AnnotationAssertion( "MESH:D000069337"^^xsd:string) AnnotationAssertion( "RDO:0015996"^^xsd:string) AnnotationAssertion( "Cake Kidney"^^xsd:string) AnnotationAssertion( "Cake Kidneys"^^xsd:string) AnnotationAssertion( "Congenital Fusion of Kidneys"^^xsd:string) AnnotationAssertion( "Congenital Lobulation of Kidneys"^^xsd:string) AnnotationAssertion( "Crossed Fused Ectopia"^^xsd:string) AnnotationAssertion( "Crossed Fused Ectopia of Kidneys"^^xsd:string) AnnotationAssertion( "Crossed Fused Ectopias"^^xsd:string) AnnotationAssertion( "Fused Kidneys"^^xsd:string) AnnotationAssertion( "Fusion of Kidney"^^xsd:string) AnnotationAssertion( "Horseshoe Kidney"^^xsd:string) AnnotationAssertion( "Horseshoe Kidneys"^^xsd:string) AnnotationAssertion( "Kidney Fusion"^^xsd:string) AnnotationAssertion( "Kidney Fusions"^^xsd:string) AnnotationAssertion( "Kidney Lobulation"^^xsd:string) AnnotationAssertion( "Kidney Lobulations"^^xsd:string) AnnotationAssertion( "Lobulated Kidney"^^xsd:string) AnnotationAssertion( "Lobulated Kidneys"^^xsd:string) AnnotationAssertion( "Lobulation of Kidney"^^xsd:string) AnnotationAssertion( "Pelvic Cake Kidney"^^xsd:string) AnnotationAssertion( "Pelvic Cake Kidneys"^^xsd:string) AnnotationAssertion( "Renal Fusion"^^xsd:string) AnnotationAssertion( "Renal Fusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004108"^^xsd:string) AnnotationAssertion(rdfs:label "Fused Kidney"^^xsd:string) SubClassOf( ) # Class: (Intestinal Carcinoid Tumors) AnnotationAssertion( "MIM:114900"^^xsd:string) AnnotationAssertion( "EFO:1000094"^^xsd:string) AnnotationAssertion( "EFO:1000300"^^xsd:string) AnnotationAssertion( "MESH:C562842"^^xsd:string) AnnotationAssertion( "Ascending Colon Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "Ileal Neuroendocrine Tumor G1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004109"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Carcinoid Tumors"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Traumatic Dental Occlusion) AnnotationAssertion(Annotation( "MESH:D003769"^^xsd:string) "An occlusion resulting in overstrain and injury to teeth, periodontal tissue, or other oral structures."^^xsd:string) AnnotationAssertion( "MESH:D003769"^^xsd:string) AnnotationAssertion( "Traumatic Dental Occlusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004110"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Dental Occlusion"^^xsd:string) SubClassOf( ) # Class: (Polyasplenia) AnnotationAssertion( "MESH:C566862"^^xsd:string) AnnotationAssertion( "RDO:0015083"^^xsd:string) AnnotationAssertion( "Asplenia with Cardiovascular Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004111"^^xsd:string) AnnotationAssertion(rdfs:label "Polyasplenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome) AnnotationAssertion( "MIM:213010"^^xsd:string) AnnotationAssertion( "MESH:C565867"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004112"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality) AnnotationAssertion( "MIM:225310"^^xsd:string) AnnotationAssertion( "MESH:C565600"^^xsd:string) AnnotationAssertion( "EDS 10"^^xsd:string) AnnotationAssertion( "EDS X"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Dysfibronectinemic Type"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome, Type X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004113"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ophthalmomandibulomelic Dysplasia) AnnotationAssertion( "MIM:164900"^^xsd:string) AnnotationAssertion( "MESH:C563501"^^xsd:string) AnnotationAssertion( "ORDO:2741"^^xsd:string) AnnotationAssertion( "OMM syndrome"^^xsd:string) AnnotationAssertion( "Pillay syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004114"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmomandibulomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620732"^^xsd:string) "This disease is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-24T13:12:42Z"^^xsd:string) AnnotationAssertion( "MIM:620732"^^xsd:string) AnnotationAssertion( "NEDMSB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004115"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rett Syndrome, Preserved Speech Variant) AnnotationAssertion( "MESH:C564063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004116"^^xsd:string) AnnotationAssertion(rdfs:label "Rett Syndrome, Preserved Speech Variant"^^xsd:string) SubClassOf( ) # Class: (COD (Cerebroocular Dysgenesis)) AnnotationAssertion( "MESH:C535631"^^xsd:string) AnnotationAssertion( "RDO:0000861"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004117"^^xsd:string) AnnotationAssertion(rdfs:label "COD (Cerebroocular Dysgenesis)"^^xsd:string) SubClassOf( ) # Class: (Experimental Melanoma) AnnotationAssertion(Annotation( "MESH:D008546"^^xsd:string) "Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA."^^xsd:string) AnnotationAssertion( "MESH:D008546"^^xsd:string) AnnotationAssertion( "B16 Melanoma"^^xsd:string) AnnotationAssertion( "B16 Melanomas"^^xsd:string) AnnotationAssertion( "Cloudman S91 Melanoma"^^xsd:string) AnnotationAssertion( "Experimental Melanomas"^^xsd:string) AnnotationAssertion( "Harding Passey Melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004118"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Melanoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Richieri Costa Pereira Syndrome) AnnotationAssertion( "MIM:268305"^^xsd:string) AnnotationAssertion( "MESH:C535677"^^xsd:string) AnnotationAssertion( "RDO:0000932"^^xsd:string) AnnotationAssertion( "RCPS"^^xsd:string) AnnotationAssertion( "Richieri-Costa and Pereira form of acrofacial dysostosis"^^xsd:string) AnnotationAssertion( "Robin sequence with cleft mandible and limb anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004119"^^xsd:string) AnnotationAssertion(rdfs:label "Richieri Costa Pereira Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alcohol Withdrawal Seizures) AnnotationAssertion(Annotation( "MESH:D020270"^^xsd:string) "A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)"^^xsd:string) AnnotationAssertion( "MESH:D020270"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Induced Major Motor Seizure"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Induced Seizure"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Induced Status Epilepticus"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal Seizure"^^xsd:string) AnnotationAssertion( "Alcohol Withdrawal-Induced Seizures"^^xsd:string) AnnotationAssertion( "Alcoholic Seizure"^^xsd:string) AnnotationAssertion( "Alcoholic Seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004120"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol Withdrawal Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hand Deformities, Acquired) AnnotationAssertion(Annotation( "MESH:D006227"^^xsd:string) "Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease."^^xsd:string) AnnotationAssertion( "MESH:D006227"^^xsd:string) AnnotationAssertion( "RDO:0005712"^^xsd:string) AnnotationAssertion( "Acquired Hand Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004121"^^xsd:string) AnnotationAssertion(rdfs:label "Hand Deformities, Acquired"^^xsd:string) SubClassOf( ) # Class: (Focal Facial Dermal Dysplasia 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-08T14:40:44Z"^^xsd:string) AnnotationAssertion( "MIM:614973"^^xsd:string) AnnotationAssertion( "Brauer-Setleis syndrome"^^xsd:string) AnnotationAssertion( "FFDD2"^^xsd:string) AnnotationAssertion( "focal facial dermal dysplasia 2, Brauer-Setleis type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004122"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Facial Dermal Dysplasia 2"^^xsd:string) SubClassOf( ) # Class: (Beemer Ertbruggen Syndrome) AnnotationAssertion( "MIM:209970"^^xsd:string) AnnotationAssertion( "MESH:C537668"^^xsd:string) AnnotationAssertion( "Beemer lethal malformation syndrome"^^xsd:string) AnnotationAssertion( "hydrocephalus, cardiac malformation, dense bones, genital anomalies, thrombocytopenia, and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004123"^^xsd:string) AnnotationAssertion(rdfs:label "Beemer Ertbruggen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Systemic Lupus Erythematosus with Nephritis) AnnotationAssertion( "MIM:607965"^^xsd:string) AnnotationAssertion( "MIM:607966"^^xsd:string) AnnotationAssertion( "MIM:607967"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SLEN1"^^xsd:string) AnnotationAssertion( "SLEN2"^^xsd:string) AnnotationAssertion( "SLEN3"^^xsd:string) AnnotationAssertion( "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "DOID:9004124"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Lupus Erythematosus with Nephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas) AnnotationAssertion( "MIM:140850"^^xsd:string) AnnotationAssertion( "MESH:C538144"^^xsd:string) AnnotationAssertion( "Cavernous Hemangiomas of Face and Supraumbilical Midline Raphe"^^xsd:string) AnnotationAssertion( "Raphe, supraumbilical midline, with cavernous facial hemangiomas"^^xsd:string) AnnotationAssertion( "Sternal nonunion with supraumbilical raphe"^^xsd:string) AnnotationAssertion( "cavernous hemangiomas of face, supraumbilical midline raphe"^^xsd:string) AnnotationAssertion( "FACIAL HEMANGIOMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004125"^^xsd:string) AnnotationAssertion(rdfs:label "Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hepadnaviridae Infections) AnnotationAssertion(Annotation( "MESH:D018347"^^xsd:string) "Virus diseases caused by the HEPADNAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007301"^^xsd:string) AnnotationAssertion( "MESH:D018347"^^xsd:string) AnnotationAssertion( "RDO:0005778"^^xsd:string) AnnotationAssertion( "Hepadnaviridae Infection"^^xsd:string) AnnotationAssertion( "Hepadnaviridae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004126"^^xsd:string) AnnotationAssertion(rdfs:label "Hepadnaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 4) AnnotationAssertion( "MIM:613268"^^xsd:string) AnnotationAssertion( "MESH:C567677"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET"^^xsd:string) AnnotationAssertion( "FECD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004127"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 4"^^xsd:string) SubClassOf( ) # Class: (Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts) AnnotationAssertion( "MESH:C566997"^^xsd:string) AnnotationAssertion( "RDO:0015187"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004128"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive External Ophthalmoplegia with Myoclonus) AnnotationAssertion( "RDO:9000754"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004129"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive External Ophthalmoplegia with Myoclonus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pharyngeal Diseases) AnnotationAssertion(Annotation( "MESH:D010608"^^xsd:string) "Pathological processes involving the PHARYNX."^^xsd:string) AnnotationAssertion( "MESH:D010608"^^xsd:string) AnnotationAssertion( "MONDO:0020592"^^xsd:string) AnnotationAssertion( "diseases of pharynx"^^xsd:string) AnnotationAssertion( "disorder of pharynx"^^xsd:string) AnnotationAssertion( "pharyngeal disease"^^xsd:string) AnnotationAssertion( "pharynx disease"^^xsd:string) AnnotationAssertion( "pharynx diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004130"^^xsd:string) AnnotationAssertion(rdfs:label "Pharyngeal Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES) AnnotationAssertion(Annotation( "MIM:619989"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T10:47:09Z"^^xsd:string) AnnotationAssertion( "MIM:619989"^^xsd:string) AnnotationAssertion( "NEDSOA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004131"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature Syndrome, Brussels Type) AnnotationAssertion( "MIM:601350"^^xsd:string) AnnotationAssertion( "MESH:C537121"^^xsd:string) AnnotationAssertion( "Mievis Verellen-Dumoulin syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004132"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature Syndrome, Brussels Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tibial Meniscus Injuries) AnnotationAssertion(Annotation( "MESH:D000070600"^^xsd:string) "Injuries to the TIBIAL MENISCUS of the leg."^^xsd:string) AnnotationAssertion( "MESH:D000070600"^^xsd:string) AnnotationAssertion( "Bucket Handle Tear"^^xsd:string) AnnotationAssertion( "Bucket Handle Tears"^^xsd:string) AnnotationAssertion( "Flap Tear"^^xsd:string) AnnotationAssertion( "Flap Tears"^^xsd:string) AnnotationAssertion( "Tibial Meniscus Injury"^^xsd:string) AnnotationAssertion( "Tibial Meniscus Tear"^^xsd:string) AnnotationAssertion( "Tibial Meniscus Tears"^^xsd:string) AnnotationAssertion( "Torn Tibial Meniscus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004133"^^xsd:string) AnnotationAssertion(rdfs:label "Tibial Meniscus Injuries"^^xsd:string) SubClassOf( ) # Class: (Cervical Rib Syndrome) AnnotationAssertion(Annotation( "MESH:D002573"^^xsd:string) "A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)"^^xsd:string) AnnotationAssertion( "MIM:117900"^^xsd:string) AnnotationAssertion( "EFO:1000861"^^xsd:string) AnnotationAssertion( "MESH:D002573"^^xsd:string) AnnotationAssertion( "Anomalous Cervical Rib Syndrome"^^xsd:string) AnnotationAssertion( "Cervical Rib Cervical Band Syndrome"^^xsd:string) AnnotationAssertion( "Cervical Rib Syndromes"^^xsd:string) AnnotationAssertion( "Naffziger Syndrome"^^xsd:string) AnnotationAssertion( "Naffziger Syndromes"^^xsd:string) AnnotationAssertion( "Naffziger's Syndrome"^^xsd:string) AnnotationAssertion( "Naffziger's Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004134"^^xsd:string) AnnotationAssertion(rdfs:label "Cervical Rib Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cataplexy and Narcolepsy) AnnotationAssertion(Annotation( "ORPHA:2073"^^xsd:string) "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-01T11:47:25Z"^^xsd:string) AnnotationAssertion( "EFO:0000614"^^xsd:string) AnnotationAssertion( "MONDO:0016158"^^xsd:string) AnnotationAssertion( "narcolepsy with cataplexy"^^xsd:string) AnnotationAssertion( "narcolepsy-cataplexy syndrome"^^xsd:string) AnnotationAssertion( "narcolepsy-cataplexy syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004136"^^xsd:string) AnnotationAssertion(rdfs:label "Cataplexy and Narcolepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bunyaviridae Infections) AnnotationAssertion(Annotation( "MESH:D002044"^^xsd:string) "Virus diseases caused by the BUNYAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007188"^^xsd:string) AnnotationAssertion( "MESH:D002044"^^xsd:string) AnnotationAssertion( "RDO:0005081"^^xsd:string) AnnotationAssertion( "Bunyaviridae Infection"^^xsd:string) AnnotationAssertion( "Bunyavirus Infection"^^xsd:string) AnnotationAssertion( "Bunyavirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004137"^^xsd:string) AnnotationAssertion(rdfs:label "Bunyaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia with Associated Extrapyramidal Signs) AnnotationAssertion( "MIM:182800"^^xsd:string) AnnotationAssertion( "MESH:C566681"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004138"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia with Associated Extrapyramidal Signs"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemoptysis) AnnotationAssertion(Annotation( "MESH:D006469"^^xsd:string) "Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES."^^xsd:string) AnnotationAssertion( "MESH:D006469"^^xsd:string) AnnotationAssertion( "Hemoptyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004139"^^xsd:string) AnnotationAssertion(rdfs:label "Hemoptysis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal) AnnotationAssertion( "MIM:603117"^^xsd:string) AnnotationAssertion( "MESH:C566409"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004140"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Desmoplastic Fibroma) AnnotationAssertion(Annotation( "MESH:D018220"^^xsd:string) "A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)"^^xsd:string) AnnotationAssertion( "EFO:1001783"^^xsd:string) AnnotationAssertion( "MESH:D018220"^^xsd:string) AnnotationAssertion( "Desmoplastic Fibromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004141"^^xsd:string) AnnotationAssertion(rdfs:label "Desmoplastic Fibroma"^^xsd:string) SubClassOf( ) # Class: (Pyogenic Liver Abscesses) AnnotationAssertion(Annotation( "MESH:D046290"^^xsd:string) "Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "RDO:0007529"^^xsd:string) AnnotationAssertion( "EFO:1001836"^^xsd:string) AnnotationAssertion( "MESH:D046290"^^xsd:string) AnnotationAssertion( "Pyogenic Hepatic Abscess"^^xsd:string) AnnotationAssertion( "Pyogenic Hepatic Abscesses"^^xsd:string) AnnotationAssertion( "pyogenic liver abscess"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004142"^^xsd:string) AnnotationAssertion(rdfs:label "Pyogenic Liver Abscesses"^^xsd:string) SubClassOf( ) # Class: (X-Linked Hypogammaglobulinemia) AnnotationAssertion( "MESH:C562478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004143"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Hypogammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS) AnnotationAssertion(Annotation( "MIM:301060"^^xsd:string) "A disease characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-06T17:46:48Z"^^xsd:string) AnnotationAssertion( "MIM:301060"^^xsd:string) AnnotationAssertion( "OAZON"^^xsd:string) AnnotationAssertion( "obstructive azoospermia with nephrolithiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004144"^^xsd:string) AnnotationAssertion(rdfs:label "AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Flavivirus Infections) AnnotationAssertion(Annotation( "MESH:D018177"^^xsd:string) "Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:1001326"^^xsd:string) AnnotationAssertion( "MESH:D018177"^^xsd:string) AnnotationAssertion( "Flavivirus infection"^^xsd:string) AnnotationAssertion( "Flavivirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004146"^^xsd:string) AnnotationAssertion(rdfs:label "Flavivirus Infections"^^xsd:string) SubClassOf( ) # Class: (Anosmia) AnnotationAssertion( "Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as cold, allergy, OLFACTORY NERVE DISEASES; viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE). (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T12:55:56Z"^^xsd:string) AnnotationAssertion( "MESH:D000086582"^^xsd:string) AnnotationAssertion( "hyposmia"^^xsd:string) AnnotationAssertion( "loss of smell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004147"^^xsd:string) AnnotationAssertion(rdfs:label "Anosmia"^^xsd:string) SubClassOf( ) # Class: (Spondyloepiphyseal Dysplasia with Atlantoaxial Instability) AnnotationAssertion( "MIM:600561"^^xsd:string) AnnotationAssertion( "MESH:C563472"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004148"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepiphyseal Dysplasia with Atlantoaxial Instability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Preaxial Polydactyly III) AnnotationAssertion( "MIM:174600"^^xsd:string) AnnotationAssertion( "MESH:C566784"^^xsd:string) AnnotationAssertion( "Index Finger Polydactyly"^^xsd:string) AnnotationAssertion( "PPD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004149"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Polydactyly III"^^xsd:string) SubClassOf( ) # Class: (Lymphadenopathy) AnnotationAssertion(Annotation( "MESH:D000072281"^^xsd:string) "Disease of LYMPH NODES which are abnormal in size, number or consistency."^^xsd:string) AnnotationAssertion( "MESH:D000072281"^^xsd:string) AnnotationAssertion( "adenopathies"^^xsd:string) AnnotationAssertion( "adenopathy"^^xsd:string) AnnotationAssertion( "lymphadenopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004150"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphadenopathy"^^xsd:string) SubClassOf( ) # Class: (Sex Chromosome Disorders) AnnotationAssertion(Annotation( "MESH:D025064"^^xsd:string) "Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment)."^^xsd:string) AnnotationAssertion( "MESH:D025064"^^xsd:string) AnnotationAssertion( "Sex Chromosome Abnormality Disorders"^^xsd:string) AnnotationAssertion( "Sex Chromosome Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004151"^^xsd:string) AnnotationAssertion(rdfs:label "Sex Chromosome Disorders"^^xsd:string) SubClassOf( ) # Class: (C9 Deficiency with Dermatomyositis) AnnotationAssertion( "MESH:C565166"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004152"^^xsd:string) AnnotationAssertion(rdfs:label "C9 Deficiency with Dermatomyositis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infant Nutrition Disorders) AnnotationAssertion(Annotation( "MESH:D007228"^^xsd:string) "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months."^^xsd:string) AnnotationAssertion( "MESH:D007228"^^xsd:string) AnnotationAssertion( "Infant Malnutrition"^^xsd:string) AnnotationAssertion( "Infant Nutrition Disorder"^^xsd:string) AnnotationAssertion( "Infant Overnutrition"^^xsd:string) AnnotationAssertion( "Infantile Malnutrition"^^xsd:string) AnnotationAssertion( "Malnutrition in Infant"^^xsd:string) AnnotationAssertion( "Malnutrition in Infants"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004153"^^xsd:string) AnnotationAssertion(rdfs:label "Infant Nutrition Disorders"^^xsd:string) SubClassOf( ) # Class: (Bacillaceae Infections) AnnotationAssertion(Annotation( "MESH:D016863"^^xsd:string) "Infections with bacteria of the family BACILLACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001124"^^xsd:string) AnnotationAssertion( "MESH:D016863"^^xsd:string) AnnotationAssertion( "RDO:0004865"^^xsd:string) AnnotationAssertion( "Bacillaceae Infection"^^xsd:string) AnnotationAssertion( "Bacillaceae infectious disease"^^xsd:string) AnnotationAssertion( "primary Bacillaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004154"^^xsd:string) AnnotationAssertion(rdfs:label "Bacillaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Shoulder Injuries) AnnotationAssertion(Annotation( "MESH:D000070599"^^xsd:string) "Injuries involving the SHOULDERS."^^xsd:string) AnnotationAssertion( "MESH:D000070599"^^xsd:string) AnnotationAssertion( "SLAP Tear"^^xsd:string) AnnotationAssertion( "SLAP Tears"^^xsd:string) AnnotationAssertion( "Shoulder Injury"^^xsd:string) AnnotationAssertion( "Superior Labrum from Anterior to Posterior Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004155"^^xsd:string) AnnotationAssertion(rdfs:label "Shoulder Injuries"^^xsd:string) SubClassOf( ) # Class: (Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities) AnnotationAssertion( "MIM:273390"^^xsd:string) AnnotationAssertion( "MESH:C536496"^^xsd:string) AnnotationAssertion( "Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities"^^xsd:string) AnnotationAssertion( "Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004156"^^xsd:string) AnnotationAssertion(rdfs:label "Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Protozoan Infections, Animal) AnnotationAssertion(Annotation( "MESH:D011529"^^xsd:string) "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary."^^xsd:string) AnnotationAssertion( "MESH:D011529"^^xsd:string) AnnotationAssertion( "RDO:0004961"^^xsd:string) AnnotationAssertion( "Animal Protozoan Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004157"^^xsd:string) AnnotationAssertion(rdfs:label "Protozoan Infections, Animal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse intrinsic pontine glioma) AnnotationAssertion(Annotation( "NCI:C94764"^^xsd:string) "This is a neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-19T16:17:35Z"^^xsd:string) AnnotationAssertion( "EFO:1000026"^^xsd:string) AnnotationAssertion( "MESH:D000080443"^^xsd:string) AnnotationAssertion( "DIPG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004158"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse intrinsic pontine glioma"^^xsd:string) SubClassOf( ) # Class: (Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase) AnnotationAssertion( "MIM:131880"^^xsd:string) AnnotationAssertion( "MESH:C565049"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004159"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase"^^xsd:string) SubClassOf( ) # Class: (Metrorrhagia) AnnotationAssertion(Annotation( "MESH:D008796"^^xsd:string) "Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM."^^xsd:string) AnnotationAssertion( "MESH:D008796"^^xsd:string) AnnotationAssertion( "Bleeding Between Periods"^^xsd:string) AnnotationAssertion( "Breakthrough Bleeding"^^xsd:string) AnnotationAssertion( "Dysfunctional Uterine Bleeding"^^xsd:string) AnnotationAssertion( "Dysfunctional Uterine Bleedings"^^xsd:string) AnnotationAssertion( "Intermenstrual Bleeding"^^xsd:string) AnnotationAssertion( "Spotting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004160"^^xsd:string) AnnotationAssertion(rdfs:label "Metrorrhagia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Skeletal Dysplasia, and Abducens Palsy) AnnotationAssertion( "MIM:309620"^^xsd:string) AnnotationAssertion( "MESH:C564101"^^xsd:string) AnnotationAssertion( "CHRS"^^xsd:string) AnnotationAssertion( "Christian Syndrome"^^xsd:string) AnnotationAssertion( "MRSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004161"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Skeletal Dysplasia, and Abducens Palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BILE ACID CONJUGATION DEFECT 1) AnnotationAssertion(Annotation( "MIM:619232"^^xsd:string) "This disease is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins D and K."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-11T13:23:32Z"^^xsd:string) AnnotationAssertion( "MIM:619232"^^xsd:string) AnnotationAssertion( "BACD1"^^xsd:string) AnnotationAssertion( "bile acid conjugation defect-1"^^xsd:string) AnnotationAssertion( "BAAT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004162"^^xsd:string) AnnotationAssertion(rdfs:label "BILE ACID CONJUGATION DEFECT 1"^^xsd:string) SubClassOf( ) # Class: (Internal Anal Sphincter Myopathy) AnnotationAssertion( "MIM:105565"^^xsd:string) AnnotationAssertion( "MESH:C566287"^^xsd:string) AnnotationAssertion( "proctalgia fugax due to anal sphincter myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004163"^^xsd:string) AnnotationAssertion(rdfs:label "Internal Anal Sphincter Myopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Soft Tissue Infections) AnnotationAssertion(Annotation( "MESH:D018461"^^xsd:string) "Infections of non-skeletal tissue, i.e., exclusive of bone, ligaments, cartilage, and fibrous tissue. The concept is usually referred to as skin and soft tissue infections and usually subcutaneous and muscle tissue are involved. The predisposing factors in anaerobic infections are trauma, ischemia, and surgery. The organisms often derive from the fecal or oral flora, particularly in wounds associated with intestinal surgery, decubitus ulcer, and human bites. (From Cecil Textbook of Medicine, 19th ed, p1688)"^^xsd:string) AnnotationAssertion( "MESH:D018461"^^xsd:string) AnnotationAssertion( "RDO:0007207"^^xsd:string) AnnotationAssertion( "Soft Tissue Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004165"^^xsd:string) AnnotationAssertion(rdfs:label "Soft Tissue Infections"^^xsd:string) SubClassOf( ) # Class: (Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis) AnnotationAssertion( "MIM:166910"^^xsd:string) AnnotationAssertion( "MESH:C563479"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004166"^^xsd:string) AnnotationAssertion(rdfs:label "Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, M) AnnotationAssertion( "MIM:610535"^^xsd:string) AnnotationAssertion( "MESH:C566436"^^xsd:string) AnnotationAssertion( "GLC1M"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004167"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, M"^^xsd:string) SubClassOf( ) # Class: (Zechi-Ceide Syndrome) AnnotationAssertion( "MIM:612916"^^xsd:string) AnnotationAssertion( "MESH:C567865"^^xsd:string) AnnotationAssertion( "occipital atretic cephalocele, unusual facies, and large feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004168"^^xsd:string) AnnotationAssertion(rdfs:label "Zechi-Ceide Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gas Poisoning) AnnotationAssertion(Annotation( "MESH:D005739"^^xsd:string) "Poisoning that results from exposure to gases such as CARBON MONOXIDE; NOBLE GASES; OXYGEN; or NATURAL GAS."^^xsd:string) AnnotationAssertion( "MESH:D005739"^^xsd:string) AnnotationAssertion( "Gas Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004169"^^xsd:string) AnnotationAssertion(rdfs:label "Gas Poisoning"^^xsd:string) SubClassOf( ) # Class: (Macular Dystrophy with Central Cone Involvement) AnnotationAssertion( "MIM:616170"^^xsd:string) AnnotationAssertion( "CCMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004170"^^xsd:string) AnnotationAssertion(rdfs:label "Macular Dystrophy with Central Cone Involvement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Muscular Atrophy with Congenital Bone Fractures) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS616866"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004171"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy with Congenital Bone Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epilepsy, Occipital Calcifications) AnnotationAssertion( "MIM:226810"^^xsd:string) AnnotationAssertion( "MESH:C535496"^^xsd:string) AnnotationAssertion( "Bilateral occipital calcifications with epilepsy"^^xsd:string) AnnotationAssertion( "Familial unilateral and bilateral occipital calcifications and epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004172"^^xsd:string) AnnotationAssertion(rdfs:label "Epilepsy, Occipital Calcifications"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Osteosclerosis) AnnotationAssertion( "MIM:126250"^^xsd:string) AnnotationAssertion( "MESH:C565093"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004173"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Osteosclerosis"^^xsd:string) SubClassOf( ) # Class: (Inosine Triphosphatase Deficiency) AnnotationAssertion( "MIM:613850"^^xsd:string) AnnotationAssertion( "MESH:C564127"^^xsd:string) AnnotationAssertion( "NCI:C129974"^^xsd:string) AnnotationAssertion( "RDO:0013189"^^xsd:string) AnnotationAssertion( "INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004174"^^xsd:string) AnnotationAssertion(rdfs:label "Inosine Triphosphatase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Epilepsy, and Diabetes Syndrome 1) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. Caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-19T18:16:26Z"^^xsd:string) AnnotationAssertion( "MIM:614231"^^xsd:string) AnnotationAssertion( "MEDS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004175"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Epilepsy, and Diabetes Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes) AnnotationAssertion( "MIM:242870"^^xsd:string) AnnotationAssertion( "MESH:C565468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004176"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes"^^xsd:string) SubClassOf( ) # Class: (Carabelli Anomaly of Maxillary Molar Teeth) AnnotationAssertion( "MIM:114700"^^xsd:string) AnnotationAssertion( "MESH:C566175"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004177"^^xsd:string) AnnotationAssertion(rdfs:label "Carabelli Anomaly of Maxillary Molar Teeth"^^xsd:string) SubClassOf( ) # Class: (Levocardia) AnnotationAssertion(Annotation( "MESH:D007979"^^xsd:string) "Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia."^^xsd:string) AnnotationAssertion( "MESH:D007979"^^xsd:string) AnnotationAssertion( "Isolated Levocardia"^^xsd:string) AnnotationAssertion( "Situs Inversus with Levocardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004178"^^xsd:string) AnnotationAssertion(rdfs:label "Levocardia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 97 with Autoinflammation) AnnotationAssertion(Annotation( "MIM:619802"^^xsd:string) "An autosomal recessive complex immunologic disorder with variable features. Caused by compound heterozygous mutation in the PIK3CG gene on chromosome 7q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T10:03:06Z"^^xsd:string) AnnotationAssertion( "MIM:619802"^^xsd:string) AnnotationAssertion( "IMD97"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004179"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 97 with Autoinflammation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aquaporin 1 Deficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:110450"^^xsd:string) AnnotationAssertion( "COLTON-NULL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004180"^^xsd:string) AnnotationAssertion(rdfs:label "Aquaporin 1 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hypospadias 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-22T10:28:58Z"^^xsd:string) AnnotationAssertion( "MIM:300856"^^xsd:string) AnnotationAssertion( "HYSP4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "X-linked hypospadias 4, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9004181"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias 4"^^xsd:string) SubClassOf( ) # Class: (CHITOTRIOSIDASE DEFICIENCY) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:614122"^^xsd:string) AnnotationAssertion( "RDO:9001393"^^xsd:string) AnnotationAssertion( "CHITD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004182"^^xsd:string) AnnotationAssertion(rdfs:label "CHITOTRIOSIDASE DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Vocal Cord Dysfunction) AnnotationAssertion(Annotation( "MESH:D064706"^^xsd:string) "A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION."^^xsd:string) AnnotationAssertion( "MESH:D064706"^^xsd:string) AnnotationAssertion( "Exercise Induced Vocal Cord Dysfunction"^^xsd:string) AnnotationAssertion( "Paradoxical Vocal Fold Motion"^^xsd:string) AnnotationAssertion( "Paradoxical Vocal Fold Motion Disorder"^^xsd:string) AnnotationAssertion( "Vocal Cord Dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004183"^^xsd:string) AnnotationAssertion(rdfs:label "Vocal Cord Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Dislocation of the Patella) AnnotationAssertion( "MESH:C538081"^^xsd:string) AnnotationAssertion( "RDO:0004015"^^xsd:string) AnnotationAssertion( "Congenital patellar dislocation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004185"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Dislocation of the Patella"^^xsd:string) SubClassOf( ) # Class: (Wolman Disease with Hypolipoproteinemia and Acanthocytosis) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004186"^^xsd:string) AnnotationAssertion(rdfs:label "Wolman Disease with Hypolipoproteinemia and Acanthocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Disease Resistance) AnnotationAssertion(Annotation( "MESH:D060467"^^xsd:string) "The capacity of an organism to defend itself against pathological processes or the agents of those processes. This most often involves innate immunity whereby the organism responds to pathogens in a generic way. The term disease resistance is used most frequently when referring to plants."^^xsd:string) AnnotationAssertion( "MESH:D060467"^^xsd:string) AnnotationAssertion( "Disease Resistances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004187"^^xsd:string) AnnotationAssertion(rdfs:label "Disease Resistance"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 39) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder with variable manifestations. Caused by homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-15T14:56:44Z"^^xsd:string) AnnotationAssertion( "MIM:619562"^^xsd:string) AnnotationAssertion( "JBTS39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004188"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 39"^^xsd:string) SubClassOf( ) # Class: (T-Cell Lymphoma 1A) AnnotationAssertion( "MIM:186960"^^xsd:string) AnnotationAssertion( "MESH:C536782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004189"^^xsd:string) AnnotationAssertion(rdfs:label "T-Cell Lymphoma 1A"^^xsd:string) SubClassOf( ) # Class: (Hiccup) AnnotationAssertion(Annotation( "MESH:D006606"^^xsd:string) "A spasm of the diaphragm that causes a sudden inhalation followed by rapid closure of the glottis which produces a sound."^^xsd:string) AnnotationAssertion( "MESH:D006606"^^xsd:string) AnnotationAssertion( "Hiccough"^^xsd:string) AnnotationAssertion( "Hiccoughs"^^xsd:string) AnnotationAssertion( "Hiccups"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004190"^^xsd:string) AnnotationAssertion(rdfs:label "Hiccup"^^xsd:string) SubClassOf( ) # Class: (CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA) AnnotationAssertion( "MIM:617364"^^xsd:string) AnnotationAssertion( "RDO:9001693"^^xsd:string) AnnotationAssertion( "CHDED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004191"^^xsd:string) AnnotationAssertion(rdfs:label "CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arthrogryposis, X-Linked, Type V) AnnotationAssertion( "MIM:300158"^^xsd:string) AnnotationAssertion( "MESH:C564574"^^xsd:string) AnnotationAssertion( "ACLLX"^^xsd:string) AnnotationAssertion( "AMCX5"^^xsd:string) AnnotationAssertion( "congenital lower limb arthrogryposis, X-linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004192"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis, X-Linked, Type V"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Desmosterolosis) AnnotationAssertion( "MIM:602398"^^xsd:string) AnnotationAssertion( "MESH:C566555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004193"^^xsd:string) AnnotationAssertion(rdfs:label "Desmosterolosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isolated Macrothrombocytopenia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-28T10:34:27Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004194"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Macrothrombocytopenia"^^xsd:string) SubClassOf( ) # Class: (Bor-Duane Hydrocephalus Contiguous Gene Syndrome) AnnotationAssertion( "MIM:600257"^^xsd:string) AnnotationAssertion( "MESH:C536574"^^xsd:string) AnnotationAssertion( "Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome"^^xsd:string) AnnotationAssertion( "chromosome 8q12.2-q21.2 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004195"^^xsd:string) AnnotationAssertion(rdfs:label "Bor-Duane Hydrocephalus Contiguous Gene Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leber Optic Atrophy, Susceptibility To) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:54:20Z"^^xsd:string) AnnotationAssertion( "MIM:308905"^^xsd:string) AnnotationAssertion( "LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF"^^xsd:string) AnnotationAssertion( "LHON, modifier of"^^xsd:string) AnnotationAssertion( "LOAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004196"^^xsd:string) AnnotationAssertion(rdfs:label "Leber Optic Atrophy, Susceptibility To"^^xsd:string) SubClassOf( ) # Class: (Pelvic Neoplasms) AnnotationAssertion(Annotation( "MESH:D010386"^^xsd:string) "Tumors or cancer of the pelvic region."^^xsd:string) AnnotationAssertion( "MESH:D010386"^^xsd:string) AnnotationAssertion( "Cancer of Pelvis"^^xsd:string) AnnotationAssertion( "Cancer of the Pelvis"^^xsd:string) AnnotationAssertion( "Neoplasms of Pelvis"^^xsd:string) AnnotationAssertion( "Pelvic Cancer"^^xsd:string) AnnotationAssertion( "Pelvic Cancers"^^xsd:string) AnnotationAssertion( "Pelvic Neoplasm"^^xsd:string) AnnotationAssertion( "Pelvis Cancer"^^xsd:string) AnnotationAssertion( "Pelvis Cancers"^^xsd:string) AnnotationAssertion( "Pelvis Neoplasm"^^xsd:string) AnnotationAssertion( "Pelvis Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004197"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Allergic Rhinosinusitis) AnnotationAssertion( "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to hypersensitivity to various allergens."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004198"^^xsd:string) AnnotationAssertion(rdfs:label "Allergic Rhinosinusitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hodgkin Disease, X-Linked Pseudoautosomal) AnnotationAssertion( "MIM:300221"^^xsd:string) AnnotationAssertion( "MESH:C538326"^^xsd:string) AnnotationAssertion( "RDO:0004289"^^xsd:string) AnnotationAssertion( "LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004199"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin Disease, X-Linked Pseudoautosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias) AnnotationAssertion( "MIM:179250"^^xsd:string) AnnotationAssertion( "MESH:C536262"^^xsd:string) AnnotationAssertion( "Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema"^^xsd:string) AnnotationAssertion( "Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema"^^xsd:string) AnnotationAssertion( "Schmitt Gillenwater Kelly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004200"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ectopia Lentis) AnnotationAssertion(Annotation( "MESH:D004479"^^xsd:string) "Congenital displacement of the lens resulting from defective zonule formation."^^xsd:string) AnnotationAssertion( "MESH:D004479"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004201"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopia Lentis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Herpes Labialis) AnnotationAssertion(Annotation( "MESH:D006560"^^xsd:string) "Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)"^^xsd:string) AnnotationAssertion( "EFO:1001347"^^xsd:string) AnnotationAssertion( "MESH:D006560"^^xsd:string) AnnotationAssertion( "Cold Sore"^^xsd:string) AnnotationAssertion( "Fever Blister"^^xsd:string) AnnotationAssertion( "Fever Blisters"^^xsd:string) AnnotationAssertion( "cold sores"^^xsd:string) AnnotationAssertion( "labial herpes simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004202"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Labialis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Breakage) AnnotationAssertion(Annotation( "MESH:D019457"^^xsd:string) "A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION."^^xsd:string) AnnotationAssertion( "MESH:D019457"^^xsd:string) AnnotationAssertion( "RDO:0002130"^^xsd:string) AnnotationAssertion( "Chromosomal Break"^^xsd:string) AnnotationAssertion( "Chromosomal Breakage"^^xsd:string) AnnotationAssertion( "Chromosomal Breakages"^^xsd:string) AnnotationAssertion( "Chromosomal Breaks"^^xsd:string) AnnotationAssertion( "Chromosome Break"^^xsd:string) AnnotationAssertion( "Chromosome Breakages"^^xsd:string) AnnotationAssertion( "Chromosome Breaks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004203"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Breakage"^^xsd:string) SubClassOf( ) # Class: (Tracheobronchopathia Osteoplastica) AnnotationAssertion( "MIM:189961"^^xsd:string) AnnotationAssertion( "MESH:C536977"^^xsd:string) AnnotationAssertion( "Cartilaginous or bony projections into the tracheobronchial lumen"^^xsd:string) AnnotationAssertion( "Tracheobronchopathia Osteochondroplastica"^^xsd:string) AnnotationAssertion( "Tracheopathia osteoplastica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004204"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheobronchopathia Osteoplastica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Left-Right Axis Malformations) AnnotationAssertion( "MESH:C566610"^^xsd:string) AnnotationAssertion( "RDO:0014921"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004205"^^xsd:string) AnnotationAssertion(rdfs:label "Left-Right Axis Malformations"^^xsd:string) SubClassOf( ) # Class: (Thyroglossal Tract Cyst) AnnotationAssertion( "MIM:188455"^^xsd:string) AnnotationAssertion( "MESH:C536909"^^xsd:string) AnnotationAssertion( "Familial thyroglossal duct cyst"^^xsd:string) AnnotationAssertion( "Hereditary thyroglossal duct cysts"^^xsd:string) AnnotationAssertion( "Thyroglossal duct cysts familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004206"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroglossal Tract Cyst"^^xsd:string) SubClassOf( ) # Class: (Testicular Neoplasms) AnnotationAssertion(Annotation( "MESH:D013736"^^xsd:string) "Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms."^^xsd:string) AnnotationAssertion( "RDO:0006682"^^xsd:string) AnnotationAssertion( "EFO:0004281"^^xsd:string) AnnotationAssertion( "MESH:D013736"^^xsd:string) AnnotationAssertion( "Rete Testis Tumor"^^xsd:string) AnnotationAssertion( "Rete Testis Tumors"^^xsd:string) AnnotationAssertion( "Testicular Neoplasm"^^xsd:string) AnnotationAssertion( "Testicular Tumors"^^xsd:string) AnnotationAssertion( "Testis Neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of testis"^^xsd:string) AnnotationAssertion( "testis neoplasm"^^xsd:string) AnnotationAssertion( "tumor of rete testis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004207"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Traumatic Brain Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020201"^^xsd:string) "Bleeding within the brain as a result of penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA. Traumatically induced hemorrhages may occur in any area of the brain, including the CEREBRUM; BRAIN STEM (see BRAIN STEM HEMORRHAGE, TRAUMATIC); and CEREBELLUM."^^xsd:string) AnnotationAssertion( "MESH:D020201"^^xsd:string) AnnotationAssertion( "Traumatic Brain Hemorrhages"^^xsd:string) AnnotationAssertion( "Traumatic Cerebellar Hemorrhage"^^xsd:string) AnnotationAssertion( "Traumatic Cerebellar Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004208"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Brain Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Fragility with Contractures, Arterial Rupture, and Deafness) AnnotationAssertion( "MESH:C567320"^^xsd:string) AnnotationAssertion( "MIM:612394"^^xsd:string) AnnotationAssertion( "MONDO:0012892"^^xsd:string) AnnotationAssertion( "BCARD"^^xsd:string) AnnotationAssertion( "BCARD syndrome"^^xsd:string) AnnotationAssertion( "BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS"^^xsd:string) AnnotationAssertion( "LH3 Deficiency"^^xsd:string) AnnotationAssertion( "Lysyl Hydroxylase 3 Deficiency"^^xsd:string) AnnotationAssertion( "PLOD3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PLOD3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "bone fragility with contractures, arterial rupture, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004209"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Fragility with Contractures, Arterial Rupture, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tympanic Membrane Perforation) AnnotationAssertion(Annotation( "MESH:D018058"^^xsd:string) "A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition."^^xsd:string) AnnotationAssertion( "EFO:0009472"^^xsd:string) AnnotationAssertion( "MESH:D018058"^^xsd:string) AnnotationAssertion( "Eardrum Perforation"^^xsd:string) AnnotationAssertion( "Tympanic Membrane Rupture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004210"^^xsd:string) AnnotationAssertion(rdfs:label "Tympanic Membrane Perforation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dizziness) AnnotationAssertion(Annotation( "MESH:D004244"^^xsd:string) "An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness."^^xsd:string) AnnotationAssertion( "EFO:0009847"^^xsd:string) AnnotationAssertion( "MESH:D004244"^^xsd:string) AnnotationAssertion( "Dizzyness"^^xsd:string) AnnotationAssertion( "Light Headedness"^^xsd:string) AnnotationAssertion( "Lightheadedness"^^xsd:string) AnnotationAssertion( "Orthostasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004211"^^xsd:string) AnnotationAssertion(rdfs:label "Dizziness"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Myopathy, Lethal Infantile) AnnotationAssertion( "MIM:551000"^^xsd:string) AnnotationAssertion( "RDO:0008732"^^xsd:string) AnnotationAssertion( "RDO:0013119"^^xsd:string) AnnotationAssertion( "MESH:C564017"^^xsd:string) AnnotationAssertion( "LIMM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004212"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy, Lethal Infantile"^^xsd:string) SubClassOf( ) # Class: (Pachyonychia Congenita 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:26:12Z"^^xsd:string) AnnotationAssertion( "MIM:167210"^^xsd:string) AnnotationAssertion( "MONDO:0008174"^^xsd:string) AnnotationAssertion( "Jackson-Lawler Syndrome (Pc-2)"^^xsd:string) AnnotationAssertion( "Jackson-Lawler type pachyonychia congenita"^^xsd:string) AnnotationAssertion( "PC2"^^xsd:string) AnnotationAssertion( "Pachyonychia Congenita Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004213"^^xsd:string) AnnotationAssertion(rdfs:label "Pachyonychia Congenita 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spermatogenic Failure 92) AnnotationAssertion(Annotation( "MIM:620848"^^xsd:string) "A male infertility due to asthenozoospermia caused by homozygous mutation in the LRRC23 gene on chromosome 12p13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-02T14:59:24Z"^^xsd:string) AnnotationAssertion( "MIM:620848"^^xsd:string) AnnotationAssertion( "SPGF92"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004215"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 92"^^xsd:string) SubClassOf( ) # Class: (PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME) AnnotationAssertion(Annotation( "MIM:620005"^^xsd:string) "This disease is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-19T13:40:33Z"^^xsd:string) AnnotationAssertion( "MIM:620005"^^xsd:string) AnnotationAssertion( "PDIL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004216"^^xsd:string) AnnotationAssertion(rdfs:label "PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nerve Sheath Neoplasms) AnnotationAssertion(Annotation( "MESH:D018317"^^xsd:string) "Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category."^^xsd:string) AnnotationAssertion( "MESH:D018317"^^xsd:string) AnnotationAssertion( "nerve sheath neoplasm"^^xsd:string) AnnotationAssertion( "nerve sheath tumor"^^xsd:string) AnnotationAssertion( "nerve sheath tumors"^^xsd:string) AnnotationAssertion( "peripheral nerve sheath neoplasm"^^xsd:string) AnnotationAssertion( "peripheral nerve sheath tumors"^^xsd:string) AnnotationAssertion( "tumors of the nerve sheath"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004217"^^xsd:string) AnnotationAssertion(rdfs:label "Nerve Sheath Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pilotto Syndrome) AnnotationAssertion( "MESH:C537400"^^xsd:string) AnnotationAssertion( "Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004218"^^xsd:string) AnnotationAssertion(rdfs:label "Pilotto Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malformation of Arms) AnnotationAssertion( "MIM:107900"^^xsd:string) AnnotationAssertion( "MESH:C566258"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004219"^^xsd:string) AnnotationAssertion(rdfs:label "Malformation of Arms"^^xsd:string) SubClassOf( ) # Class: (Adams-Oliver Syndrome 1) AnnotationAssertion( "This disease is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:100300"^^xsd:string) AnnotationAssertion( "ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL"^^xsd:string) AnnotationAssertion( "AOS"^^xsd:string) AnnotationAssertion( "AOS1"^^xsd:string) AnnotationAssertion( "APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS"^^xsd:string) AnnotationAssertion( "ARHGAP31-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Adams-Oliver syndrome I"^^xsd:string) AnnotationAssertion( "CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS"^^xsd:string) AnnotationAssertion( "DOID:9004220"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken Syndrome 5) AnnotationAssertion( "MIM:609254"^^xsd:string) AnnotationAssertion( "MESH:C563763"^^xsd:string) AnnotationAssertion( "SLSN5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004221"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME) AnnotationAssertion(Annotation( "MIM:617602"^^xsd:string) "A disease characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Failure to thrive is observed during infancy and early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-09-08T14:43:01Z"^^xsd:string) AnnotationAssertion( "ABL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ABL1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:617602"^^xsd:string) AnnotationAssertion( "CHDSKM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004222"^^xsd:string) AnnotationAssertion(rdfs:label "CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 9, Partial Trisomy 9p) AnnotationAssertion( "MESH:C538026"^^xsd:string) AnnotationAssertion( "RDO:0003960"^^xsd:string) AnnotationAssertion( "Duplication 9p partial"^^xsd:string) AnnotationAssertion( "Trisomy 9p partial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004223"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Partial Trisomy 9p"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Complex II Deficiency Nuclear Type 4) AnnotationAssertion( "A severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Caused by homozygous or compound heterozygous mutation in the succinate dehydrogenase complex subunit B gene (SDHB) on chromosome 1p36. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-09T10:51:31Z"^^xsd:string) AnnotationAssertion( "MIM:619224"^^xsd:string) AnnotationAssertion( "MC2DN4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004224"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex II Deficiency Nuclear Type 4"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 7) AnnotationAssertion( "MIM:614629"^^xsd:string) AnnotationAssertion( "KTCN7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004225"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 7"^^xsd:string) SubClassOf( ) # Class: (Hittner Hirsch Kreh Syndrome) AnnotationAssertion( "MESH:C538323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004226"^^xsd:string) AnnotationAssertion(rdfs:label "Hittner Hirsch Kreh Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Hyperaldosteronism) AnnotationAssertion( "MESH:C580087"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004228"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperaldosteronism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619595"^^xsd:string) "This disease is an early-onset neurodevelopmental disorder and is characterized by developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-04T12:29:28Z"^^xsd:string) AnnotationAssertion( "SRCAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619595"^^xsd:string) AnnotationAssertion( "DEHMBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004230"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wallerian Degeneration of the Pyramidal Tract) AnnotationAssertion( "MESH:C531847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004231"^^xsd:string) AnnotationAssertion(rdfs:label "Wallerian Degeneration of the Pyramidal Tract"^^xsd:string) SubClassOf( ) # Class: (Fanconi Anemia Complementation Group S) AnnotationAssertion( "Fanconi anemia complementation group S (FANCS) is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations. FANCS is caused by compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-17T12:21:52Z"^^xsd:string) AnnotationAssertion( "MIM:617883"^^xsd:string) AnnotationAssertion( "FANCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004232"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi Anemia Complementation Group S"^^xsd:string) SubClassOf( ) # Class: (Olivopontocerebellar Atrophy II, Autosomal Recessive) AnnotationAssertion( "MIM:258300"^^xsd:string) AnnotationAssertion( "MESH:C564930"^^xsd:string) AnnotationAssertion( "OPCA II, Fickler-Winkler Type"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and albinism"^^xsd:string) AnnotationAssertion( "olivopontocerebellar ataxia II, Fickler-Winkler type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004233"^^xsd:string) AnnotationAssertion(rdfs:label "Olivopontocerebellar Atrophy II, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Baby Rattle Pelvis Dysplasia) AnnotationAssertion( "MIM:605838"^^xsd:string) AnnotationAssertion( "MESH:C565282"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004234"^^xsd:string) AnnotationAssertion(rdfs:label "Baby Rattle Pelvis Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Familial Spinal Arachnoiditis) AnnotationAssertion( "MIM:182950"^^xsd:string) AnnotationAssertion( "MESH:C531624"^^xsd:string) AnnotationAssertion( "Spinal arachnoiditis"^^xsd:string) AnnotationAssertion( "Spinal tuberculous arachnoiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004235"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Spinal Arachnoiditis"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Hypothyroidism) AnnotationAssertion( "RDO:0012343"^^xsd:string) AnnotationAssertion( "MESH:C562768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004236"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Hypothyroidism"^^xsd:string) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Hyperoxic Lung Injury) AnnotationAssertion( "Damage to any compartment of the lung caused by an abnormal increase in the amount of oxygen."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004237"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperoxic Lung Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adams-Stokes Syndrome) AnnotationAssertion(Annotation( "MESH:D000219"^^xsd:string) "A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent."^^xsd:string) AnnotationAssertion( "MESH:D000219"^^xsd:string) AnnotationAssertion( "Adam Stokes Attacks"^^xsd:string) AnnotationAssertion( "Stokes Adams Attacks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004238"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Stokes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cousin Syndrome) AnnotationAssertion( "MIM:260660"^^xsd:string) AnnotationAssertion( "RDO:0000731"^^xsd:string) AnnotationAssertion( "RDO:0008442"^^xsd:string) AnnotationAssertion( "MESH:C535550"^^xsd:string) AnnotationAssertion( "Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature"^^xsd:string) AnnotationAssertion( "PELVISCAPULAR DYSPLASIA"^^xsd:string) AnnotationAssertion( "Pelvic shoulder dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004239"^^xsd:string) AnnotationAssertion(rdfs:label "Cousin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Phyllodes Tumor) AnnotationAssertion(Annotation( "MESH:D003557"^^xsd:string) "A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known."^^xsd:string) AnnotationAssertion( "EFO:0000653"^^xsd:string) AnnotationAssertion( "MESH:D003557"^^xsd:string) AnnotationAssertion( "cystosarcoma phyllodes"^^xsd:string) AnnotationAssertion( "cystosarcoma phylloides"^^xsd:string) AnnotationAssertion( "phyllodes tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004240"^^xsd:string) AnnotationAssertion(rdfs:label "Phyllodes Tumor"^^xsd:string) SubClassOf( ) # Class: (Infantile Myofibromatosis 1) AnnotationAssertion( "MIM:228550"^^xsd:string) AnnotationAssertion( "IMF1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004241"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Myofibromatosis 1"^^xsd:string) SubClassOf( ) # Class: (Endemic Treponematosis caused by Treponema Carateum) AnnotationAssertion( "MESH:C531782"^^xsd:string) AnnotationAssertion( "RDO:0000196"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004242"^^xsd:string) AnnotationAssertion(rdfs:label "Endemic Treponematosis caused by Treponema Carateum"^^xsd:string) SubClassOf( ) # Class: (Muller Barth Menger Syndrome) AnnotationAssertion( "MIM:213820"^^xsd:string) AnnotationAssertion( "MESH:C537370"^^xsd:string) AnnotationAssertion( "Cerebral malformation, seizures, hypertrichosis, and overlapping fingers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004243"^^xsd:string) AnnotationAssertion(rdfs:label "Muller Barth Menger Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Polyendocrine-Polyneuropathy Syndrome) AnnotationAssertion( "MIM:616113"^^xsd:string) AnnotationAssertion( "RDO:9000654"^^xsd:string) AnnotationAssertion( "PEPNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004244"^^xsd:string) AnnotationAssertion(rdfs:label "Polyendocrine-Polyneuropathy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Irritable Heart) AnnotationAssertion( "MESH:C531763"^^xsd:string) AnnotationAssertion( "soldiers heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004245"^^xsd:string) AnnotationAssertion(rdfs:label "Irritable Heart"^^xsd:string) SubClassOf( ) # Class: (Meningeal Carcinomatosis) AnnotationAssertion(Annotation( "MESH:D055756"^^xsd:string) "Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation."^^xsd:string) AnnotationAssertion( "MESH:D055756"^^xsd:string) AnnotationAssertion( "RDO:0007721"^^xsd:string) AnnotationAssertion( "Carcinomatous Meningitides"^^xsd:string) AnnotationAssertion( "Carcinomatous Meningitis"^^xsd:string) AnnotationAssertion( "Leptomeningeal Carcinomatoses"^^xsd:string) AnnotationAssertion( "Leptomeningeal Carcinomatosis"^^xsd:string) AnnotationAssertion( "Meningeal Carcinomatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004246"^^xsd:string) AnnotationAssertion(rdfs:label "Meningeal Carcinomatosis"^^xsd:string) SubClassOf( ) # Class: (Craniofaciofrontodigital Syndrome) AnnotationAssertion( "MIM:114620"^^xsd:string) AnnotationAssertion( "MESH:C567298"^^xsd:string) AnnotationAssertion( "Cantu Craniofaciofrontodigital Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004247"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofaciofrontodigital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chilblains) AnnotationAssertion(Annotation( "MESH:D002647"^^xsd:string) "Recurrent localized itching, swelling and painful erythema on the fingers, toes or ears, produced by exposure to cold."^^xsd:string) AnnotationAssertion( "MESH:D002647"^^xsd:string) AnnotationAssertion( "Chilblain"^^xsd:string) AnnotationAssertion( "Idiopathic Pernioses"^^xsd:string) AnnotationAssertion( "Idiopathic Perniosis"^^xsd:string) AnnotationAssertion( "Pernio"^^xsd:string) AnnotationAssertion( "Pernios"^^xsd:string) AnnotationAssertion( "Pernioses"^^xsd:string) AnnotationAssertion( "Perniosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004248"^^xsd:string) AnnotationAssertion(rdfs:label "Chilblains"^^xsd:string) SubClassOf( ) # Class: (Dental Leakage) AnnotationAssertion(Annotation( "MESH:D003763"^^xsd:string) "The seepage of fluids, debris, and micro-organisms between the walls of a prepared dental cavity and the restoration."^^xsd:string) AnnotationAssertion( "MESH:D003763"^^xsd:string) AnnotationAssertion( "Dental Leakages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004249"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Leakage"^^xsd:string) SubClassOf( ) # Class: (Hepatic Insufficiency) AnnotationAssertion(Annotation( "MESH:D048550"^^xsd:string) "Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "MESH:D048550"^^xsd:string) AnnotationAssertion( "Liver Insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004250"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatic Insufficiency"^^xsd:string) SubClassOf( ) # Class: (Ruvalcaba Churesigaew Myhre Syndrome) AnnotationAssertion( "MESH:C537190"^^xsd:string) AnnotationAssertion( "RDO:0002979"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004251"^^xsd:string) AnnotationAssertion(rdfs:label "Ruvalcaba Churesigaew Myhre Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vascular Fistula) AnnotationAssertion(Annotation( "MESH:D016157"^^xsd:string) "An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein."^^xsd:string) AnnotationAssertion( "MESH:D016157"^^xsd:string) AnnotationAssertion( "Vascular Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004252"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunoblastic Lymphadenopathy) AnnotationAssertion(Annotation( "MESH:D007119"^^xsd:string) "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly."^^xsd:string) AnnotationAssertion( "EFO:1001350"^^xsd:string) AnnotationAssertion( "MESH:D007119"^^xsd:string) AnnotationAssertion( "RDO:0005879"^^xsd:string) AnnotationAssertion( "Angioimmunoblastic Lymphadenopathies"^^xsd:string) AnnotationAssertion( "Angioimmunoblastic Lymphadenopathy"^^xsd:string) AnnotationAssertion( "Immunoblastic Lymphadenopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004253"^^xsd:string) AnnotationAssertion(rdfs:label "Immunoblastic Lymphadenopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Encephalomyelitis with Rigidity) AnnotationAssertion( "MESH:C566113"^^xsd:string) AnnotationAssertion( "RDO:0014570"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004254"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Encephalomyelitis with Rigidity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Sutural, with Punctate and Cerulean Opacities) AnnotationAssertion( "MESH:C564619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004255"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Sutural, with Punctate and Cerulean Opacities"^^xsd:string) SubClassOf( ) # Class: (Rozin Hertz Goodman Syndrome) AnnotationAssertion( "MIM:602612"^^xsd:string) AnnotationAssertion( "MESH:C535876"^^xsd:string) AnnotationAssertion( "Camptodactyly, joint contractures, facial skeletal defects"^^xsd:string) AnnotationAssertion( "Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004256"^^xsd:string) AnnotationAssertion(rdfs:label "Rozin Hertz Goodman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pneumonia, Ventilator-Associated) AnnotationAssertion(Annotation( "MESH:D053717"^^xsd:string) "Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)."^^xsd:string) AnnotationAssertion( "EFO:1001865"^^xsd:string) AnnotationAssertion( "MESH:D053717"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004257"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumonia, Ventilator-Associated"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Amyloid Neuropathies, Primary (nonfamilial)) AnnotationAssertion( "MESH:C531615"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004258"^^xsd:string) AnnotationAssertion(rdfs:label "Amyloid Neuropathies, Primary (nonfamilial)"^^xsd:string) SubClassOf( ) # Class: (Primary Malignant Melanoma of the Cervix) AnnotationAssertion( "MESH:C536417"^^xsd:string) AnnotationAssertion( "Primary malignant melanoma of the cervix uteri"^^xsd:string) AnnotationAssertion( "Primary malignant melanoma of the uterine cervix"^^xsd:string) AnnotationAssertion( "Radiation induced malignant melanoma of the cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004259"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Malignant Melanoma of the Cervix"^^xsd:string) SubClassOf( ) # Class: (Zimmerman Laband Syndrome) AnnotationAssertion( "MESH:C536725"^^xsd:string) AnnotationAssertion( "MIM:PS135500"^^xsd:string) AnnotationAssertion( "Laband syndrome"^^xsd:string) AnnotationAssertion( "Zimmermann-Laband syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004260"^^xsd:string) AnnotationAssertion(rdfs:label "Zimmerman Laband Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visna) AnnotationAssertion(Annotation( "MESH:D016182"^^xsd:string) "Demyelinating leukoencephalomyelitis of sheep caused by the VISNA-MAEDI VIRUS. It is similar to but not the same as SCRAPIE."^^xsd:string) AnnotationAssertion( "EFO:0007542"^^xsd:string) AnnotationAssertion( "MESH:D016182"^^xsd:string) AnnotationAssertion( "Ovine Encephalomyelitides"^^xsd:string) AnnotationAssertion( "Ovine Encephalomyelitis"^^xsd:string) AnnotationAssertion( "Visnas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004261"^^xsd:string) AnnotationAssertion(rdfs:label "Visna"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Systolic Hypertension) AnnotationAssertion( "Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:40:07Z"^^xsd:string) AnnotationAssertion( "MESH:D000092244"^^xsd:string) AnnotationAssertion( "Systolic Hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004262"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Systolic Hypertension"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY) AnnotationAssertion(Annotation( "MIM:619639"^^xsd:string) "This disease is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-10T18:15:30Z"^^xsd:string) AnnotationAssertion( "MIM:619639"^^xsd:string) AnnotationAssertion( "NEDHMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004263"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cyclodialysis Clefts) AnnotationAssertion( "Finding of a separation of the CILIARY BODY in the SCLERAL SPUR region, creating aqueous outflow from the ANTERIOR CHAMBER into suprachoroidal space between the CHOROID and the SCLERA. Persistent cyclodialysis clefts may be associated with OCULAR HYPOTENSION and OPTIC DISC EDEMA. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T14:50:14Z"^^xsd:string) AnnotationAssertion( "MESH:D000080322"^^xsd:string) AnnotationAssertion( "Cyclodialysis Cleft"^^xsd:string) AnnotationAssertion( "Persistent Cyclodialysis Clefts"^^xsd:string) AnnotationAssertion( "Traumatic Cyclodialysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004264"^^xsd:string) AnnotationAssertion(rdfs:label "Cyclodialysis Clefts"^^xsd:string) SubClassOf( ) # Class: (Endometrioid Carcinomas) AnnotationAssertion(Annotation( "MESH:D018269"^^xsd:string) "An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues."^^xsd:string) AnnotationAssertion( "EFO:0000205"^^xsd:string) AnnotationAssertion( "EFO:0000206"^^xsd:string) AnnotationAssertion( "EFO:0000466"^^xsd:string) AnnotationAssertion( "MESH:D018269"^^xsd:string) AnnotationAssertion( "endometrioid adenocarcinoma"^^xsd:string) AnnotationAssertion( "endometrioid adenocarcinomas"^^xsd:string) AnnotationAssertion( "endometrioid carcinoma"^^xsd:string) AnnotationAssertion( "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION"^^xsd:string) AnnotationAssertion( "stage I endometrioid carcinoma"^^xsd:string) AnnotationAssertion( "stage II endometrioid carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004265"^^xsd:string) AnnotationAssertion(rdfs:label "Endometrioid Carcinomas"^^xsd:string) SubClassOf( ) # Class: (Patellar Dislocation) AnnotationAssertion(Annotation( "MESH:D031222"^^xsd:string) "Displacement of the PATELLA from the femoral groove."^^xsd:string) AnnotationAssertion( "MESH:D031222"^^xsd:string) AnnotationAssertion( "Patellar Dislocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004266"^^xsd:string) AnnotationAssertion(rdfs:label "Patellar Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Palmoplantar Hyperkeratosis and True Hermaphroditism) AnnotationAssertion( "MESH:C567165"^^xsd:string) AnnotationAssertion( "RDO:0015313"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004267"^^xsd:string) AnnotationAssertion(rdfs:label "Palmoplantar Hyperkeratosis and True Hermaphroditism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uterine Neoplasms) AnnotationAssertion(Annotation( "MESH:D014594"^^xsd:string) "Tumors or cancer of the UTERUS."^^xsd:string) AnnotationAssertion( "EFO:0003859"^^xsd:string) AnnotationAssertion( "MESH:D014594"^^xsd:string) AnnotationAssertion( "neoplasm of uterus"^^xsd:string) AnnotationAssertion( "tumour of uterus"^^xsd:string) AnnotationAssertion( "uterine neoplasm"^^xsd:string) AnnotationAssertion( "uterine tumor"^^xsd:string) AnnotationAssertion( "uterus neoplasm"^^xsd:string) AnnotationAssertion( "uterus neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004268"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromothripsis) AnnotationAssertion(Annotation( "MESH:D000072837"^^xsd:string) "Massive number of chromosomal rearrangements and shattering that occurs in cancer cells. The breakpoints are located within one chromosome or chromosome arm."^^xsd:string) AnnotationAssertion( "MESH:D000072837"^^xsd:string) AnnotationAssertion( "Chromosome Shattering"^^xsd:string) AnnotationAssertion( "Chromosome Shatterings"^^xsd:string) AnnotationAssertion( "Chromothripses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004269"^^xsd:string) AnnotationAssertion(rdfs:label "Chromothripsis"^^xsd:string) SubClassOf( ) # Class: (Generalized Epidermolysis Bullosa Simplex 2B) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-03T12:02:32Z"^^xsd:string) AnnotationAssertion( "MIM:619588"^^xsd:string) AnnotationAssertion( "EBS2B"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 2B, Koebner type"^^xsd:string) AnnotationAssertion( "generalized intermediate epidermolysis bullosa simplex-2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004270"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epidermolysis Bullosa Simplex 2B"^^xsd:string) SubClassOf( ) # Class: (Colonic Polyps) AnnotationAssertion(Annotation( "MESH:D003111"^^xsd:string) "Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base."^^xsd:string) AnnotationAssertion( "EFO:1000185"^^xsd:string) AnnotationAssertion( "EFO:1000189"^^xsd:string) AnnotationAssertion( "MESH:D003111"^^xsd:string) AnnotationAssertion( "MONDO:0021400"^^xsd:string) AnnotationAssertion( "COLON POLYPS"^^xsd:string) AnnotationAssertion( "Colonic Polyp"^^xsd:string) AnnotationAssertion( "Colon Juvenile Polyp"^^xsd:string) AnnotationAssertion( "Colon Sessile Serrated Adenoma/Polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004271"^^xsd:string) AnnotationAssertion(rdfs:label "Colonic Polyps"^^xsd:string) SubClassOf( ) # Class: (Varicose Ulcer) AnnotationAssertion(Annotation( "MESH:D014647"^^xsd:string) "Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg."^^xsd:string) AnnotationAssertion( "EFO:1001923"^^xsd:string) AnnotationAssertion( "MESH:D014647"^^xsd:string) AnnotationAssertion( "Stasis Ulcer"^^xsd:string) AnnotationAssertion( "Stasis Ulcers"^^xsd:string) AnnotationAssertion( "Varicose Ulcers"^^xsd:string) AnnotationAssertion( "Venous Hypertension Ulcer"^^xsd:string) AnnotationAssertion( "Venous Hypertension Ulcers"^^xsd:string) AnnotationAssertion( "Venous Stasis Ulcer"^^xsd:string) AnnotationAssertion( "Venous Stasis Ulcers"^^xsd:string) AnnotationAssertion( "Venous Ulcer"^^xsd:string) AnnotationAssertion( "Venous Ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004272"^^xsd:string) AnnotationAssertion(rdfs:label "Varicose Ulcer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anaplastic Small Cell Lymphoma) AnnotationAssertion( "MESH:C538255"^^xsd:string) AnnotationAssertion( "RDO:0004209"^^xsd:string) AnnotationAssertion( "Small cell variant of anaplastic large cell lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004273"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplastic Small Cell Lymphoma"^^xsd:string) SubClassOf( ) # Class: (Abdomen, Acute) AnnotationAssertion(Annotation( "MESH:D000006"^^xsd:string) "A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases."^^xsd:string) AnnotationAssertion( "MESH:D000006"^^xsd:string) AnnotationAssertion( "RDO:0004683"^^xsd:string) AnnotationAssertion( "Acute Abdomens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004274"^^xsd:string) AnnotationAssertion(rdfs:label "Abdomen, Acute"^^xsd:string) SubClassOf( ) # Class: (Stomach Rupture) AnnotationAssertion(Annotation( "MESH:D013275"^^xsd:string) "Bursting of the STOMACH."^^xsd:string) AnnotationAssertion( "EFO:1001851"^^xsd:string) AnnotationAssertion( "MESH:D013275"^^xsd:string) AnnotationAssertion( "Gastric Rupture"^^xsd:string) AnnotationAssertion( "Gastric Ruptures"^^xsd:string) AnnotationAssertion( "Stomach Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004275"^^xsd:string) AnnotationAssertion(rdfs:label "Stomach Rupture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thrombocythemia 3) AnnotationAssertion( "MIM:614521"^^xsd:string) AnnotationAssertion( "THCYT3"^^xsd:string) AnnotationAssertion( "THROMBOCYTOSIS 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004276"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocythemia 3"^^xsd:string) SubClassOf( ) # Class: (Lessel-Kubisch Syndrome) AnnotationAssertion( "A disease characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-10T14:36:16Z"^^xsd:string) AnnotationAssertion( "MIM:618681"^^xsd:string) AnnotationAssertion( "EFO:0010632"^^xsd:string) AnnotationAssertion( "LSKB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004277"^^xsd:string) AnnotationAssertion(rdfs:label "Lessel-Kubisch Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sarcoma, Yoshida) AnnotationAssertion(Annotation( "MESH:D012517"^^xsd:string) "An experimental sarcoma of rats."^^xsd:string) AnnotationAssertion( "MESH:D012517"^^xsd:string) AnnotationAssertion( "Reticulum Cell Like Sarcoma, Yoshida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004278"^^xsd:string) AnnotationAssertion(rdfs:label "Sarcoma, Yoshida"^^xsd:string) SubClassOf( ) # Class: (Forearm Injuries) AnnotationAssertion(Annotation( "MESH:D005543"^^xsd:string) "Injuries to the part of the upper limb of the body between the wrist and elbow."^^xsd:string) AnnotationAssertion( "MESH:D005543"^^xsd:string) AnnotationAssertion( "Forearm Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004279"^^xsd:string) AnnotationAssertion(rdfs:label "Forearm Injuries"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tricho-Dento-Osseous Syndrome 1) AnnotationAssertion( "MESH:C536550"^^xsd:string) AnnotationAssertion( "RDO:0002165"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004281"^^xsd:string) AnnotationAssertion(rdfs:label "Tricho-Dento-Osseous Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fractures, Compression) AnnotationAssertion(Annotation( "MESH:D050815"^^xsd:string) "Crumbling or smashing of cancellous BONE by forces acting parallel to the long axis of bone. It is applied particularly to vertebral body fractures (SPINAL FRACTURES). (Blauvelt and Nelson, A Manual of Orthopedic Terminology, 1994, p4)"^^xsd:string) AnnotationAssertion( "MESH:D050815"^^xsd:string) AnnotationAssertion( "RDO:0007576"^^xsd:string) AnnotationAssertion( "Compression Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004282"^^xsd:string) AnnotationAssertion(rdfs:label "Fractures, Compression"^^xsd:string) SubClassOf( ) # Class: (Transplant Rejection) AnnotationAssertion( "A process in which a transplant recipient's immune system attacks the transplanted organ or tissue. The rejection can be hyperacute (occurring within a few minutes), acute (occurring within days to months), or chronic (occurring over many years)."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004283"^^xsd:string) AnnotationAssertion(rdfs:label "Transplant Rejection"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Paroxysmal Nocturnal Hemoglobinuria 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-26T10:41:15Z"^^xsd:string) AnnotationAssertion( "MIM:300818"^^xsd:string) AnnotationAssertion( "PNH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004285"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Nocturnal Hemoglobinuria 1"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease 1) AnnotationAssertion( "MESH:C538540"^^xsd:string) AnnotationAssertion( "RDO:0004483"^^xsd:string) AnnotationAssertion( "Hirschsprung disease type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004286"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease 1"^^xsd:string) SubClassOf( ) # Class: (Phantom Limb) AnnotationAssertion(Annotation( "MESH:D010591"^^xsd:string) "Perception of painful and nonpainful phantom sensations that occur following the complete or partial loss of a limb. The majority of individuals with an amputated extremity will experience the impression that the limb is still present, and in many cases, painful. (From Neurol Clin 1998 Nov;16(4):919-36; Brain 1998 Sep;121(Pt 9):1603-30)"^^xsd:string) AnnotationAssertion( "MESH:D010591"^^xsd:string) AnnotationAssertion( "Phantom Limb Pain"^^xsd:string) AnnotationAssertion( "Phantom Limb Pains"^^xsd:string) AnnotationAssertion( "Phantom Limbs"^^xsd:string) AnnotationAssertion( "Phantom Pain"^^xsd:string) AnnotationAssertion( "Phantom Pains"^^xsd:string) AnnotationAssertion( "Phantom Sensation"^^xsd:string) AnnotationAssertion( "Phantom Sensations"^^xsd:string) AnnotationAssertion( "Pseudomelia"^^xsd:string) AnnotationAssertion( "Pseudomelias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004287"^^xsd:string) AnnotationAssertion(rdfs:label "Phantom Limb"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemorrhagic Shock and Encephalopathy Syndrome) AnnotationAssertion( "MESH:C537254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004288"^^xsd:string) AnnotationAssertion(rdfs:label "Hemorrhagic Shock and Encephalopathy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Drug-Induced Leukopenia) AnnotationAssertion( "Leukopenia associated with chemotherapy or other drug treatment."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001221"^^xsd:string) AnnotationAssertion( "chemotherapy-induced leukopenia"^^xsd:string) AnnotationAssertion( "drug-induced leucopenia"^^xsd:string) AnnotationAssertion( "drug-induced leukocytopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004289"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Leukopenia"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination) AnnotationAssertion( "A syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Additional features include hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk. Brain imaging shows cerebral atrophy and delayed myelination. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617393"^^xsd:string) AnnotationAssertion( "NACC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NACC1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NECFM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004290"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteootohepatoenteric Syndrome) AnnotationAssertion( "Characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Caused by compound heterozygous mutation in the UNC45A gene on chromosome 15q26. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T12:13:39Z"^^xsd:string) AnnotationAssertion( "MIM:619377"^^xsd:string) AnnotationAssertion( "NCI:C201597"^^xsd:string) AnnotationAssertion( "O2HE"^^xsd:string) AnnotationAssertion( "OOHE"^^xsd:string) AnnotationAssertion( "osteo-oto-hepato-enteric syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004291"^^xsd:string) AnnotationAssertion(rdfs:label "Osteootohepatoenteric Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MOMES Syndrome) AnnotationAssertion( "MIM:606772"^^xsd:string) AnnotationAssertion( "MESH:C564660"^^xsd:string) AnnotationAssertion( "Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies"^^xsd:string) AnnotationAssertion( "impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004292"^^xsd:string) AnnotationAssertion(rdfs:label "MOMES Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Ptosis, Hereditary 2) AnnotationAssertion( "MIM:300245"^^xsd:string) AnnotationAssertion( "RDO:0013478"^^xsd:string) AnnotationAssertion( "MESH:C564553"^^xsd:string) AnnotationAssertion( "PTOS2"^^xsd:string) AnnotationAssertion( "PTOSX"^^xsd:string) AnnotationAssertion( "Ptosis, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004293"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Ptosis, Hereditary 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prosthesis Failure) AnnotationAssertion(Annotation( "MESH:D011475"^^xsd:string) "Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking."^^xsd:string) AnnotationAssertion( "MESH:D011475"^^xsd:string) AnnotationAssertion( "RDO:0006420"^^xsd:string) AnnotationAssertion( "Prosthesis Durabilities"^^xsd:string) AnnotationAssertion( "Prosthesis Durability"^^xsd:string) AnnotationAssertion( "Prosthesis Failures"^^xsd:string) AnnotationAssertion( "Prosthesis Loosening"^^xsd:string) AnnotationAssertion( "Prosthesis Loosenings"^^xsd:string) AnnotationAssertion( "Prosthesis Migration"^^xsd:string) AnnotationAssertion( "Prosthesis Migrations"^^xsd:string) AnnotationAssertion( "Prosthesis Survival"^^xsd:string) AnnotationAssertion( "Prosthesis Survivals"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004294"^^xsd:string) AnnotationAssertion(rdfs:label "Prosthesis Failure"^^xsd:string) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 6) AnnotationAssertion( "RDO:9000989"^^xsd:string) AnnotationAssertion( "MIM:615544"^^xsd:string) AnnotationAssertion( "PVNH6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004295"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 6"^^xsd:string) SubClassOf( ) # Class: (Hypokalemic Periodic Paralysis, Type 1) AnnotationAssertion( "MIM:170400"^^xsd:string) AnnotationAssertion( "HOKPP1"^^xsd:string) AnnotationAssertion( "hypokalemic periodic paralysis 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004296"^^xsd:string) AnnotationAssertion(rdfs:label "Hypokalemic Periodic Paralysis, Type 1"^^xsd:string) SubClassOf( ) # Class: (Warfarin Syndrome) AnnotationAssertion( "MESH:C536683"^^xsd:string) AnnotationAssertion( "Congenital warfarin syndrome"^^xsd:string) AnnotationAssertion( "Coumarin syndrome"^^xsd:string) AnnotationAssertion( "DiSala syndrome"^^xsd:string) AnnotationAssertion( "Fetal anticoagulant syndrome"^^xsd:string) AnnotationAssertion( "Warfarin embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004297"^^xsd:string) AnnotationAssertion(rdfs:label "Warfarin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer/Brain Cancer Susceptibility) AnnotationAssertion( "RDO:0008899"^^xsd:string) AnnotationAssertion( "MIM:603688"^^xsd:string) AnnotationAssertion( "CAPB"^^xsd:string) AnnotationAssertion( "PCBC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004298"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer/Brain Cancer Susceptibility"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Al Gazali Sabrinathan Nair Syndrome) AnnotationAssertion( "MESH:C535617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004299"^^xsd:string) AnnotationAssertion(rdfs:label "Al Gazali Sabrinathan Nair Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Urioste Martinez-Frias Syndrome) AnnotationAssertion( "MIM:235255"^^xsd:string) AnnotationAssertion( "MESH:C536478"^^xsd:string) AnnotationAssertion( "MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY"^^xsd:string) AnnotationAssertion( "Urioste syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004300"^^xsd:string) AnnotationAssertion(rdfs:label "Urioste Martinez-Frias Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Solid Pseudopapillary Neoplasm of the Pancreas) AnnotationAssertion(Annotation( "NCI:C37212"^^xsd:string) "This is a low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-23T15:47:26Z"^^xsd:string) AnnotationAssertion( "EFO:1000542"^^xsd:string) AnnotationAssertion( "Solid Pseudopapillary Tumor of the Pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004301"^^xsd:string) AnnotationAssertion(rdfs:label "Solid Pseudopapillary Neoplasm of the Pancreas"^^xsd:string) SubClassOf( ) # Class: (Sexually Transmitted Diseases) AnnotationAssertion(Annotation( "MESH:D012749"^^xsd:string) "Diseases due to or propagated by sexual contact."^^xsd:string) AnnotationAssertion( "MESH:D012749"^^xsd:string) AnnotationAssertion( "STI"^^xsd:string) AnnotationAssertion( "Sexually Transmitted Disease"^^xsd:string) AnnotationAssertion( "Sexually Transmitted Infection"^^xsd:string) AnnotationAssertion( "Sexually Transmitted Infections"^^xsd:string) AnnotationAssertion( "Venereal Disease"^^xsd:string) AnnotationAssertion( "Venereal Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004302"^^xsd:string) AnnotationAssertion(rdfs:label "Sexually Transmitted Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tubulointerstitial Fibrosis) AnnotationAssertion( "A pathological condition where fibrous connective tissue invades the tubules and interstitium of the kidney."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-09-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000788"^^xsd:string) AnnotationAssertion( "renal interstitial fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004303"^^xsd:string) AnnotationAssertion(rdfs:label "Tubulointerstitial Fibrosis"^^xsd:string) SubClassOf( ) # Class: (Plummer-Vinson Syndrome) AnnotationAssertion(Annotation( "MESH:D011004"^^xsd:string) "A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom."^^xsd:string) AnnotationAssertion( "MESH:D011004"^^xsd:string) AnnotationAssertion( "Kelly Syndrome"^^xsd:string) AnnotationAssertion( "Kelly's syndrome"^^xsd:string) AnnotationAssertion( "Kellys Syndrome"^^xsd:string) AnnotationAssertion( "Patterson Brown Kelly Syndrome"^^xsd:string) AnnotationAssertion( "Patterson Kelly Syndrome"^^xsd:string) AnnotationAssertion( "Patterson syndrome"^^xsd:string) AnnotationAssertion( "Patterson's Syndrome"^^xsd:string) AnnotationAssertion( "Pattersons Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004304"^^xsd:string) AnnotationAssertion(rdfs:label "Plummer-Vinson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sohval Soffer Syndrome) AnnotationAssertion( "MESH:C536679"^^xsd:string) AnnotationAssertion( "Congenital testicular deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004305"^^xsd:string) AnnotationAssertion(rdfs:label "Sohval Soffer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peptic Ulcer Hemorrhage) AnnotationAssertion(Annotation( "MESH:D010438"^^xsd:string) "Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT."^^xsd:string) AnnotationAssertion( "MESH:D010438"^^xsd:string) AnnotationAssertion( "Peptic Ulcer Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004306"^^xsd:string) AnnotationAssertion(rdfs:label "Peptic Ulcer Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Alazami Syndrome) AnnotationAssertion( "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia."^^xsd:string) AnnotationAssertion( "MIM:615071"^^xsd:string) AnnotationAssertion( "ALAZS"^^xsd:string) AnnotationAssertion( "LARP7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "facial dysmorphism, intellectual disability, and primordial dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004307"^^xsd:string) AnnotationAssertion(rdfs:label "Alazami Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nervous System Lead Poisoning, Childhood) AnnotationAssertion(Annotation( "MESH:D020264"^^xsd:string) "Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2)"^^xsd:string) AnnotationAssertion( "MESH:D020264"^^xsd:string) AnnotationAssertion( "Childhood Lead Encephalopathy"^^xsd:string) AnnotationAssertion( "Childhood Neurologic Saturnism"^^xsd:string) AnnotationAssertion( "Childhood Saturine Encephalopathy"^^xsd:string) AnnotationAssertion( "Lead Induced Nervous System Disease, Childhood"^^xsd:string) AnnotationAssertion( "Neurologic Lead Poisoning, Childhood"^^xsd:string) AnnotationAssertion( "Neurologic Plumbism, Childhood"^^xsd:string) AnnotationAssertion( "Neurotoxicity Syndrome, Lead, Childhood"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004308"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Lead Poisoning, Childhood"^^xsd:string) SubClassOf( ) # Class: (Congenital Aural Atresia) AnnotationAssertion( "MESH:C564321"^^xsd:string) AnnotationAssertion( "MIM:607842"^^xsd:string) AnnotationAssertion( "MONDO:0011921"^^xsd:string) AnnotationAssertion( "CAA"^^xsd:string) AnnotationAssertion( "TSHZ1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "congenital aural atresia with hyposmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004309"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Aural Atresia"^^xsd:string) SubClassOf( ) # Class: (Snijders Blok-Fisher Syndrome) AnnotationAssertion(Annotation( "MIM:618604"^^xsd:string) "A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-11-14T14:58:51Z"^^xsd:string) AnnotationAssertion( "EFO:0010634"^^xsd:string) AnnotationAssertion( "MIM:618604"^^xsd:string) AnnotationAssertion( "SNIBFIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004310"^^xsd:string) AnnotationAssertion(rdfs:label "Snijders Blok-Fisher Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zadik Barak Levin Syndrome) AnnotationAssertion( "RDO:0002384"^^xsd:string) AnnotationAssertion( "MESH:C536721"^^xsd:string) AnnotationAssertion( "Dermoid cysts, hypothyroidism, cleft palate, and hypodontia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004311"^^xsd:string) AnnotationAssertion(rdfs:label "Zadik Barak Levin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mixed Sclerosing Bone Dystrophy) AnnotationAssertion( "MESH:C537479"^^xsd:string) AnnotationAssertion( "RDO:0003325"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004312"^^xsd:string) AnnotationAssertion(rdfs:label "Mixed Sclerosing Bone Dystrophy"^^xsd:string) SubClassOf( ) # Class: (Epidermodysplasia Verruciformis 5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618309"^^xsd:string) AnnotationAssertion( "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "EV5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004313"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis 5"^^xsd:string) SubClassOf( ) # Class: (Short-Rib Thoracic Dysplasia 15 with Polydactyly) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617088"^^xsd:string) AnnotationAssertion( "SRTD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004314"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Rib Thoracic Dysplasia 15 with Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease) AnnotationAssertion( "MIM:209010"^^xsd:string) AnnotationAssertion( "MESH:C565928"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004315"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oculocerebrocutaneous Syndrome) AnnotationAssertion( "MIM:164180"^^xsd:string) AnnotationAssertion( "MESH:C538088"^^xsd:string) AnnotationAssertion( "Delleman syndrome"^^xsd:string) AnnotationAssertion( "Oculo-cerebro-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "Orbital cyst with cerebral and focal dermal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004316"^^xsd:string) AnnotationAssertion(rdfs:label "Oculocerebrocutaneous Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hand Injuries) AnnotationAssertion(Annotation( "MESH:D006230"^^xsd:string) "General or unspecified injuries to the hand."^^xsd:string) AnnotationAssertion( "MESH:D006230"^^xsd:string) AnnotationAssertion( "hand injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004317"^^xsd:string) AnnotationAssertion(rdfs:label "Hand Injuries"^^xsd:string) SubClassOf( ) # Class: (Nonphotosensitive Trichothiodystrophy 9) AnnotationAssertion(Annotation( "MIM:619692"^^xsd:string) "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by homozygous mutation in the MARS1 gene on chromosome 12q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-06T14:35:21Z"^^xsd:string) AnnotationAssertion( "MIM:619692"^^xsd:string) AnnotationAssertion( "TTD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004318"^^xsd:string) AnnotationAssertion(rdfs:label "Nonphotosensitive Trichothiodystrophy 9"^^xsd:string) SubClassOf( ) # Class: (Ventricular Outflow Obstruction) AnnotationAssertion(Annotation( "MESH:D014694"^^xsd:string) "Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS."^^xsd:string) AnnotationAssertion( "EFO:1001448"^^xsd:string) AnnotationAssertion( "MESH:D014694"^^xsd:string) AnnotationAssertion( "Ventricular Outflow Obstructions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004319"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Outflow Obstruction"^^xsd:string) SubClassOf( ) # Class: (Karak Syndrome) AnnotationAssertion( "MESH:C548029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004320"^^xsd:string) AnnotationAssertion(rdfs:label "Karak Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Corneal Injuries) AnnotationAssertion(Annotation( "MESH:D065306"^^xsd:string) "Damage or trauma inflicted to the CORNEA by external means."^^xsd:string) AnnotationAssertion( "MESH:D065306"^^xsd:string) AnnotationAssertion( "RDO:0015959"^^xsd:string) AnnotationAssertion( "Cornea Injuries"^^xsd:string) AnnotationAssertion( "Cornea Injury"^^xsd:string) AnnotationAssertion( "Corneal Damage"^^xsd:string) AnnotationAssertion( "Corneal Damages"^^xsd:string) AnnotationAssertion( "Corneal Injury"^^xsd:string) AnnotationAssertion( "Corneal Scar"^^xsd:string) AnnotationAssertion( "Corneal Scars"^^xsd:string) AnnotationAssertion( "Corneal Trauma"^^xsd:string) AnnotationAssertion( "Corneal Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004321"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniosynostosis with Anomalies of the Cranial Base and Digits) AnnotationAssertion( "MIM:218530"^^xsd:string) AnnotationAssertion( "MESH:C565666"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004322"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis with Anomalies of the Cranial Base and Digits"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium) AnnotationAssertion( "MESH:C564000"^^xsd:string) AnnotationAssertion( "RP with Preserved Paraarteriole Retinal Pigment Epithelium"^^xsd:string) AnnotationAssertion( "Retinitis Pigmentosa, PRPE Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004323"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium"^^xsd:string) SubClassOf( ) # Class: (Congenital, Hereditary, and Neonatal Diseases and Abnormalities) AnnotationAssertion(Annotation( "MESH:D009358"^^xsd:string) "Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES."^^xsd:string) AnnotationAssertion( "MESH:D009358"^^xsd:string) AnnotationAssertion( "Congenital Disorder"^^xsd:string) AnnotationAssertion( "Congenital Disorders"^^xsd:string) AnnotationAssertion( "Neonatal Diseases and Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004324"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Congenital, Hereditary, and Neonatal Diseases and Abnormalities"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Colpocephaly) AnnotationAssertion( "MESH:C535973"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004327"^^xsd:string) AnnotationAssertion(rdfs:label "Colpocephaly"^^xsd:string) SubClassOf( ) # Class: (Drachtman Weinblatt Sitarz Syndrome) AnnotationAssertion( "MESH:C535603"^^xsd:string) AnnotationAssertion( "RDO:0000823"^^xsd:string) AnnotationAssertion( "Marrow hypoplasia associated with congenital neurologic anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004328"^^xsd:string) AnnotationAssertion(rdfs:label "Drachtman Weinblatt Sitarz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sphincter of Oddi Dysfunction) AnnotationAssertion(Annotation( "MESH:D046628"^^xsd:string) "Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter."^^xsd:string) AnnotationAssertion( "MESH:D046628"^^xsd:string) AnnotationAssertion( "Sphincter of Oddi Dyskinesia"^^xsd:string) AnnotationAssertion( "Sphincter of Oddi Stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004329"^^xsd:string) AnnotationAssertion(rdfs:label "Sphincter of Oddi Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Pubic Bone Dysplasia) AnnotationAssertion( "MIM:178350"^^xsd:string) AnnotationAssertion( "MESH:C566735"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004330"^^xsd:string) AnnotationAssertion(rdfs:label "Pubic Bone Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Parathyroid Neoplasms) AnnotationAssertion(Annotation( "MESH:D010282"^^xsd:string) "Tumors or cancer of the PARATHYROID GLANDS."^^xsd:string) AnnotationAssertion( "MESH:D010282"^^xsd:string) AnnotationAssertion( "parathyroid gland neoplasm"^^xsd:string) AnnotationAssertion( "parathyroid neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004331"^^xsd:string) AnnotationAssertion(rdfs:label "Parathyroid Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteoarthritis, Experimental) AnnotationAssertion( "Osteoarthritis that is induced in experimental animals by creating instability in joints through surgery or chemical treatment. It represents a progressive, degenerative joint disease resulting from biochemical changes and biomechanical stresses affecting articular cartilage."^^xsd:string) AnnotationAssertion( "RDO:9000116"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004332"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoarthritis, Experimental"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hunter-Macdonald Syndrome) AnnotationAssertion( "MIM:611962"^^xsd:string) AnnotationAssertion( "MESH:C567445"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004333"^^xsd:string) AnnotationAssertion(rdfs:label "Hunter-Macdonald Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kosztolanyi Syndrome) AnnotationAssertion( "MESH:C537024"^^xsd:string) AnnotationAssertion( "RDO:0002776"^^xsd:string) AnnotationAssertion( "Arachnodactyly, abnormal ossification and mental retardation"^^xsd:string) AnnotationAssertion( "Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004334"^^xsd:string) AnnotationAssertion(rdfs:label "Kosztolanyi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Congenital Anomalies Syndrome with Cloverleaf Skull) AnnotationAssertion( "MIM:607161"^^xsd:string) AnnotationAssertion( "MESH:C564611"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004335"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Congenital Anomalies Syndrome with Cloverleaf Skull"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities) AnnotationAssertion(Annotation( "MIM:616577"^^xsd:string) "An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss."^^xsd:string) AnnotationAssertion( "EFO:0009647"^^xsd:string) AnnotationAssertion( "MIM:616577"^^xsd:string) AnnotationAssertion( "EHLMRS"^^xsd:string) AnnotationAssertion( "Epilepsy, Hearing Loss, and Mental Retardation Syndrome"^^xsd:string) AnnotationAssertion( "NEDHSB"^^xsd:string) AnnotationAssertion( "epilepsy, hearing loss, and intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004336"^^xsd:string) AnnotationAssertion(rdfs:label "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Cortical Pulverulent, Late-Onset) AnnotationAssertion( "MESH:C563604"^^xsd:string) AnnotationAssertion( "RDO:0012824"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004337"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Cortical Pulverulent, Late-Onset"^^xsd:string) SubClassOf( ) # Class: (Advanced Sleep Phase Syndrome 4, Familial) AnnotationAssertion(Annotation( "MIM:620015"^^xsd:string) "An autosomal dominant condition in which individuals wake and sleep early, caused by heterozygous mutation in the TIMELESS gene on chromosome 12q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-24T09:44:20Z"^^xsd:string) AnnotationAssertion( "MIM:620015"^^xsd:string) AnnotationAssertion( "ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4"^^xsd:string) AnnotationAssertion( "FASPS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004338"^^xsd:string) AnnotationAssertion(rdfs:label "Advanced Sleep Phase Syndrome 4, Familial"^^xsd:string) SubClassOf( ) # Class: (Dyschromatosis Universalis Hereditaria 2) AnnotationAssertion( "MIM:612715"^^xsd:string) AnnotationAssertion( "RDO:0015335"^^xsd:string) AnnotationAssertion( "MESH:C567194"^^xsd:string) AnnotationAssertion( "DUH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004339"^^xsd:string) AnnotationAssertion(rdfs:label "Dyschromatosis Universalis Hereditaria 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bunion) AnnotationAssertion(Annotation( "MESH:D000071378"^^xsd:string) "Abnormal swelling of the inner aspect of the first metatarsal head affecting the first METATARSOPHALANGEAL JOINT."^^xsd:string) AnnotationAssertion( "MESH:D000071378"^^xsd:string) AnnotationAssertion( "Bunions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004341"^^xsd:string) AnnotationAssertion(rdfs:label "Bunion"^^xsd:string) SubClassOf( ) # Class: (Familial Temporal Epilepsy) AnnotationAssertion( "RDO:0002686"^^xsd:string) AnnotationAssertion( "MESH:C536956"^^xsd:string) AnnotationAssertion( "Familial temporal lobe epilepsy"^^xsd:string) AnnotationAssertion( "MICAL1-RELATED LATERAL TEMPORAL EPILEPSY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004342"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Temporal Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniofacial Dyssynostosis) AnnotationAssertion( "MIM:218350"^^xsd:string) AnnotationAssertion( "MESH:C536455"^^xsd:string) AnnotationAssertion( "BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS"^^xsd:string) AnnotationAssertion( "BLSS"^^xsd:string) AnnotationAssertion( "Craniofacial Dyssynostosis with Short Stature"^^xsd:string) AnnotationAssertion( "Craniofacial dyssynostosis and short stature"^^xsd:string) AnnotationAssertion( "Craniosynostosis-craniofacial dysostosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004343"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Dyssynostosis"^^xsd:string) SubClassOf( ) # Class: (Adrenal Medullary Hyperplasia) AnnotationAssertion(Annotation( "PMID:31384714"^^xsd:string) Annotation( "PMID:32732076"^^xsd:string) "This disease is a cause of increased secretion of catecholamines, and subsequently endocrine hypertension. It has similar symptoms to, and may be a precursor of pheochromocytoma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-08-26T13:04:42Z"^^xsd:string) AnnotationAssertion( "EFO:1000076"^^xsd:string) AnnotationAssertion( "AMH"^^xsd:string) AnnotationAssertion( "adrenal medulla hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004344"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Medullary Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isobutyryl-CoA Dehydrogenase Deficiency) AnnotationAssertion( "MIM:611283"^^xsd:string) AnnotationAssertion( "MESH:C535541"^^xsd:string) AnnotationAssertion( "NCI:C129975"^^xsd:string) AnnotationAssertion( "ACAD8 deficiency"^^xsd:string) AnnotationAssertion( "Acyl-CoA dehydrogenase family, member 8, deficiency of"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF ISOBUTYRYL-COA DEHYDROGENASE"^^xsd:string) AnnotationAssertion( "IBD DEFICIENCY"^^xsd:string) AnnotationAssertion( "IBDD"^^xsd:string) AnnotationAssertion( "isobutyryl-coenzyme A dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004345"^^xsd:string) AnnotationAssertion(rdfs:label "Isobutyryl-CoA Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa Inversa with Deafness) AnnotationAssertion( "MIM:268010"^^xsd:string) AnnotationAssertion( "MESH:C564842"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004346"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa Inversa with Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skeletal Muscle Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to skeletal muscle, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "RDO:9000692"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004347"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Muscle Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cleft Lip, Congenital Healed) AnnotationAssertion( "MESH:C563468"^^xsd:string) AnnotationAssertion( "RDO:0012715"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004348"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Lip, Congenital Healed"^^xsd:string) SubClassOf( ) # Class: (Chromosome 2, Trisomy 2q37) AnnotationAssertion( "MESH:C535368"^^xsd:string) AnnotationAssertion( "duplication 2q37"^^xsd:string) AnnotationAssertion( "trisomy 2q37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004349"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Trisomy 2q37"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9, Partial Monosomy 9p) AnnotationAssertion( "MESH:C538025"^^xsd:string) AnnotationAssertion( "RDO:0003959"^^xsd:string) AnnotationAssertion( "9p Partial Monosomy"^^xsd:string) AnnotationAssertion( "9p- syndrome, partial"^^xsd:string) AnnotationAssertion( "Deletion 9p syndrome, partial"^^xsd:string) AnnotationAssertion( "Distal Monosomy 9p"^^xsd:string) AnnotationAssertion( "Partial deletion of short arm of chromosome 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004350"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Partial Monosomy 9p"^^xsd:string) SubClassOf( ) # Class: (Digestive System Neoplasms) AnnotationAssertion(Annotation( "MESH:D004067"^^xsd:string) "Tumors or cancer of the DIGESTIVE SYSTEM."^^xsd:string) AnnotationAssertion( "EFO:0008549"^^xsd:string) AnnotationAssertion( "EFO:1000219"^^xsd:string) AnnotationAssertion( "MESH:D004067"^^xsd:string) AnnotationAssertion( "NCI:C60682"^^xsd:string) AnnotationAssertion( "Digestive System Neoplasm"^^xsd:string) AnnotationAssertion( "Digestive System Mixed Adenoneuroendocrine Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004351"^^xsd:string) AnnotationAssertion(rdfs:label "Digestive System Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sister Mary Joseph's Nodule) AnnotationAssertion(Annotation( "MESH:D058288"^^xsd:string) "Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY."^^xsd:string) AnnotationAssertion( "MESH:D058288"^^xsd:string) AnnotationAssertion( "RDO:0007821"^^xsd:string) AnnotationAssertion( "Sister Joseph Nodule"^^xsd:string) AnnotationAssertion( "Sister Joseph's Nodule"^^xsd:string) AnnotationAssertion( "Sister Joseph's Nodules"^^xsd:string) AnnotationAssertion( "Sister Josephs Nodule"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004352"^^xsd:string) AnnotationAssertion(rdfs:label "Sister Mary Joseph's Nodule"^^xsd:string) SubClassOf( ) # Class: (Larsen Syndromes) AnnotationAssertion( "MESH:C580241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004353"^^xsd:string) AnnotationAssertion(rdfs:label "Larsen Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alcohol-Related Disorders) AnnotationAssertion(Annotation( "MESH:D019973"^^xsd:string) "Disorders related to or resulting from abuse or mis-use of alcohol."^^xsd:string) AnnotationAssertion( "MESH:D019973"^^xsd:string) AnnotationAssertion( "Alcohol-Related Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004354"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol-Related Disorders"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease Type 3) AnnotationAssertion( "MESH:C538121"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004355"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease Type 3"^^xsd:string) SubClassOf( ) # Class: (Smith-Kingsmore Syndrome) AnnotationAssertion(Annotation( "MIM:616638"^^xsd:string) "A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-12-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MTOR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER, MTOR RELATED"^^xsd:string) AnnotationAssertion( "EFO:0009050"^^xsd:string) AnnotationAssertion( "MIM:616638"^^xsd:string) AnnotationAssertion( "MINDS syndrome"^^xsd:string) AnnotationAssertion( "OVERGROWTH SYNDROME"^^xsd:string) AnnotationAssertion( "SKS"^^xsd:string) AnnotationAssertion( "macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism"^^xsd:string) AnnotationAssertion( "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004356"^^xsd:string) AnnotationAssertion(rdfs:label "Smith-Kingsmore Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spinal Muscular Atrophy, Infantile, James Type) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-19T17:29:27Z"^^xsd:string) AnnotationAssertion( "MIM:619042"^^xsd:string) AnnotationAssertion( "SMAJI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004357"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy, Infantile, James Type"^^xsd:string) SubClassOf( ) # Class: (Candidiasis, Familial, 3) AnnotationAssertion( "MIM:607644"^^xsd:string) AnnotationAssertion( "RDO:0013354"^^xsd:string) AnnotationAssertion( "MESH:C564361"^^xsd:string) AnnotationAssertion( "CANDF3"^^xsd:string) AnnotationAssertion( "CANDN1"^^xsd:string) AnnotationAssertion( "Candidiasis, Familial Chronic Nail, With ICAM1 Deficiency"^^xsd:string) AnnotationAssertion( "FCNC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004358"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 3"^^xsd:string) SubClassOf( ) # Class: (Chromosome 18, Deletion 18q23) AnnotationAssertion( "MESH:C538305"^^xsd:string) AnnotationAssertion( "RDO:0004267"^^xsd:string) AnnotationAssertion( "Deletion 18q23"^^xsd:string) AnnotationAssertion( "Monosomy 18q23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004359"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18, Deletion 18q23"^^xsd:string) SubClassOf( ) # Class: (RAUCH-STEINDL SYNDROME) AnnotationAssertion(Annotation( "MIM:619695"^^xsd:string) "This disease is characterized by poor pre- and postnatal growth, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function. The phenotype represents a mild form of Wolf-Hirschhorn syndrome."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-25T10:16:29Z"^^xsd:string) AnnotationAssertion( "MIM:619695"^^xsd:string) AnnotationAssertion( "RAUST"^^xsd:string) AnnotationAssertion( "WOLF-HIRSCHHORN LIKE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004360"^^xsd:string) AnnotationAssertion(rdfs:label "RAUCH-STEINDL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jung Wolff Back Stahl Syndrome) AnnotationAssertion( "MIM:601427"^^xsd:string) AnnotationAssertion( "MESH:C537694"^^xsd:string) AnnotationAssertion( "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004361"^^xsd:string) AnnotationAssertion(rdfs:label "Jung Wolff Back Stahl Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Torulopsis) AnnotationAssertion( "MESH:C536972"^^xsd:string) AnnotationAssertion( "Neonatal Torulopsis glabrata Fungemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004362"^^xsd:string) AnnotationAssertion(rdfs:label "Torulopsis"^^xsd:string) SubClassOf( ) # Class: (Eisenmenger Complex) AnnotationAssertion(Annotation( "MESH:D004541"^^xsd:string) "A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of the RIGHT VENTRICLE; CYANOSIS; and ERYTHROCYTOSIS."^^xsd:string) AnnotationAssertion( "EFO:0009200"^^xsd:string) AnnotationAssertion( "MESH:D004541"^^xsd:string) AnnotationAssertion( "NCI:C84390"^^xsd:string) AnnotationAssertion( "Eisenmenger Syndrome"^^xsd:string) AnnotationAssertion( "Eisenmenger's Complex"^^xsd:string) AnnotationAssertion( "Eisenmenger's Syndrome"^^xsd:string) AnnotationAssertion( "Eisenmengers Complex"^^xsd:string) AnnotationAssertion( "Eisenmengers Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004363"^^xsd:string) AnnotationAssertion(rdfs:label "Eisenmenger Complex"^^xsd:string) SubClassOf( ) # Class: (Meckel Syndrome 10) AnnotationAssertion( "MIM:614175"^^xsd:string) AnnotationAssertion( "MKS10"^^xsd:string) AnnotationAssertion( "Meckel syndrome, type 10"^^xsd:string) AnnotationAssertion( "JBTS34"^^xsd:string) AnnotationAssertion( "Joubert syndrome 34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004364"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel Syndrome 10"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Senior-Loken Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T09:30:51Z"^^xsd:string) AnnotationAssertion( "MIM:266900"^^xsd:string) AnnotationAssertion( "SLSN1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004365"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Congenital Muscular Dystrophy with Cerebellar Atrophy) AnnotationAssertion( "MIM:603323"^^xsd:string) AnnotationAssertion( "MESH:C566392"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004366"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy with Cerebellar Atrophy"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Infantile Epilepsy) AnnotationAssertion( "RDO:9000702"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004367"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Infantile Epilepsy"^^xsd:string) SubClassOf( ) # Class: (Esophageal Fistula) AnnotationAssertion(Annotation( "MESH:D004937"^^xsd:string) "Abnormal passage communicating with the ESOPHAGUS. The most common type is TRACHEOESOPHAGEAL FISTULA between the esophagus and the TRACHEA."^^xsd:string) AnnotationAssertion( "MESH:D004937"^^xsd:string) AnnotationAssertion( "Esophageal Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004368"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypesthesia) AnnotationAssertion(Annotation( "MESH:D006987"^^xsd:string) "Absent or reduced sensitivity to cutaneous stimulation."^^xsd:string) AnnotationAssertion( "MESH:D006987"^^xsd:string) AnnotationAssertion( "RDO:0002033"^^xsd:string) AnnotationAssertion( "Hypesthesias"^^xsd:string) AnnotationAssertion( "Hypoesthesia"^^xsd:string) AnnotationAssertion( "Hypoesthesias"^^xsd:string) AnnotationAssertion( "Impaired Sensation"^^xsd:string) AnnotationAssertion( "Impaired Sensations"^^xsd:string) AnnotationAssertion( "Numbness"^^xsd:string) AnnotationAssertion( "Reduced Sensation"^^xsd:string) AnnotationAssertion( "Reduced Sensations"^^xsd:string) AnnotationAssertion( "Tactile Hypesthesia"^^xsd:string) AnnotationAssertion( "Tactile Hypesthesias"^^xsd:string) AnnotationAssertion( "Thermal Hypesthesia"^^xsd:string) AnnotationAssertion( "Thermal Hypesthesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004369"^^xsd:string) AnnotationAssertion(rdfs:label "Hypesthesia"^^xsd:string) SubClassOf( ) # Class: (Infantile Hypertrophic Pyloric Stenosis 1) AnnotationAssertion( "MIM:179010"^^xsd:string) AnnotationAssertion( "MESH:C566730"^^xsd:string) AnnotationAssertion( "IHPS"^^xsd:string) AnnotationAssertion( "IHPS1"^^xsd:string) AnnotationAssertion( "Pyloric Stenosis, Infantile"^^xsd:string) AnnotationAssertion( "Pyloric Stenosis, Infantile Hypertrophic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004370"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypertrophic Pyloric Stenosis 1"^^xsd:string) SubClassOf( ) # Class: (Ankyloblepharon Filiforme Adnatum) AnnotationAssertion( "MIM:106250"^^xsd:string) AnnotationAssertion( "MESH:C536373"^^xsd:string) AnnotationAssertion( "RDO:0001936"^^xsd:string) AnnotationAssertion( "AFA"^^xsd:string) AnnotationAssertion( "Ankyloblepharon Filiforme Adnatum and Cleft Palate"^^xsd:string) AnnotationAssertion( "Ankyloblepharon filiforme adnatum cleft palate"^^xsd:string) AnnotationAssertion( "Ankyloblepharon filiforme congenitum"^^xsd:string) AnnotationAssertion( "Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004371"^^xsd:string) AnnotationAssertion(rdfs:label "Ankyloblepharon Filiforme Adnatum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Atelectasis) AnnotationAssertion(Annotation( "MESH:D001261"^^xsd:string) "Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors."^^xsd:string) AnnotationAssertion( "MESH:D001261"^^xsd:string) AnnotationAssertion( "RDO:0004938"^^xsd:string) AnnotationAssertion( "Atelectases"^^xsd:string) AnnotationAssertion( "Atelectasis"^^xsd:string) AnnotationAssertion( "Compression Atelectases"^^xsd:string) AnnotationAssertion( "Compression Atelectasis"^^xsd:string) AnnotationAssertion( "Compression Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Compression Pulmonary Atelectasis"^^xsd:string) AnnotationAssertion( "Congestive Atelectases"^^xsd:string) AnnotationAssertion( "Congestive Atelectasis"^^xsd:string) AnnotationAssertion( "Congestive Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Congestive Pulmonary Atelectasis"^^xsd:string) AnnotationAssertion( "Contraction Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Contraction Pulmonary Atelectasis"^^xsd:string) AnnotationAssertion( "Lung Collapse"^^xsd:string) AnnotationAssertion( "Postoperative Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Postoperative Pulmonary Atelectasis"^^xsd:string) AnnotationAssertion( "Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Resorption Atelectases"^^xsd:string) AnnotationAssertion( "Resorption Atelectasis"^^xsd:string) AnnotationAssertion( "Resorption Pulmonary Atelectases"^^xsd:string) AnnotationAssertion( "Resorption Pulmonary Atelectasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004372"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Atelectasis"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Dyskeratosis Congenita) AnnotationAssertion( "MESH:C565611"^^xsd:string) AnnotationAssertion( "recessive dyskeratosis congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004373"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Dyskeratosis Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Colangite Esclerosante Porracoccidiodomicose) AnnotationAssertion( "MESH:C531768"^^xsd:string) AnnotationAssertion( "RDO:0000186"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004374"^^xsd:string) AnnotationAssertion(rdfs:label "Colangite Esclerosante Porracoccidiodomicose"^^xsd:string) SubClassOf( ) # Class: (Pagetoid Reticulosis) AnnotationAssertion(Annotation( "MESH:D056267"^^xsd:string) "A distinct variant of mycosis fungoides characterized by the presence of localized patches or plaques with an intraepidermal proliferation of neoplastic cells."^^xsd:string) AnnotationAssertion( "MESH:D056267"^^xsd:string) AnnotationAssertion( "RDO:0007740"^^xsd:string) AnnotationAssertion( "Ketron Goodman Disease"^^xsd:string) AnnotationAssertion( "Pagetoid Reticuloses"^^xsd:string) AnnotationAssertion( "Woringer Kolopp Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004375"^^xsd:string) AnnotationAssertion(rdfs:label "Pagetoid Reticulosis"^^xsd:string) SubClassOf( ) # Class: (Progressive Pallidal Degeneration with Retinitis Pigmentosa) AnnotationAssertion( "MIM:260200"^^xsd:string) AnnotationAssertion( "MESH:C564910"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004376"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Pallidal Degeneration with Retinitis Pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myostitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004377"^^xsd:string) AnnotationAssertion(rdfs:label "Myostitis"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A4) AnnotationAssertion( "MIM:608562"^^xsd:string) AnnotationAssertion( "RDO:0013042"^^xsd:string) AnnotationAssertion( "MESH:C563909"^^xsd:string) AnnotationAssertion( "PAPA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004378"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vesicular Stomatitis) AnnotationAssertion(Annotation( "MESH:D054243"^^xsd:string) "A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness."^^xsd:string) AnnotationAssertion( "MESH:D054243"^^xsd:string) AnnotationAssertion( "Vesicular Stomatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004379"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicular Stomatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Trisomy 1q32 qter) AnnotationAssertion( "MESH:C538083"^^xsd:string) AnnotationAssertion( "RDO:0004017"^^xsd:string) AnnotationAssertion( "Duplication 1q32 qter"^^xsd:string) AnnotationAssertion( "Trisomy 1q32 qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004380"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Trisomy 1q32 qter"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Heart Valve Prolapse) AnnotationAssertion(Annotation( "MESH:D016127"^^xsd:string) "Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure."^^xsd:string) AnnotationAssertion( "MESH:D016127"^^xsd:string) AnnotationAssertion( "Heart Valve Prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004382"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Valve Prolapse"^^xsd:string) SubClassOf( ) # Class: (Eczematous Skin Diseases) AnnotationAssertion(Annotation( "MESH:D017443"^^xsd:string) "Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied."^^xsd:string) AnnotationAssertion( "MESH:D017443"^^xsd:string) AnnotationAssertion( "Eczematous Disorder"^^xsd:string) AnnotationAssertion( "Eczematous Disorders"^^xsd:string) AnnotationAssertion( "Eczematous Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004383"^^xsd:string) AnnotationAssertion(rdfs:label "Eczematous Skin Diseases"^^xsd:string) SubClassOf( ) # Class: (Bacterial Infections and Mycoses) AnnotationAssertion(Annotation( "MESH:D001423"^^xsd:string) "Infections caused by bacteria and fungi, general, specified, or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D001423"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004384"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Bacterial Infections and Mycoses"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Isolated Microphthalmia with Coloboma 5) AnnotationAssertion( "MIM:611638"^^xsd:string) AnnotationAssertion( "MESH:C566899"^^xsd:string) AnnotationAssertion( "MCOPCB5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004387"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma 5"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bone Neoplasms) AnnotationAssertion(Annotation( "MESH:D001859"^^xsd:string) "Tumors or cancer located in bone tissue or specific BONES."^^xsd:string) AnnotationAssertion( "RDO:0001001"^^xsd:string) AnnotationAssertion( "EFO:0003820"^^xsd:string) AnnotationAssertion( "MESH:D001859"^^xsd:string) AnnotationAssertion( "bone neoplasm"^^xsd:string) AnnotationAssertion( "bone tumour"^^xsd:string) AnnotationAssertion( "neoplasm of bone"^^xsd:string) AnnotationAssertion( "osseous tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004389"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Convalescence) AnnotationAssertion(Annotation( "MESH:D003289"^^xsd:string) "The period of recovery following an illness."^^xsd:string) AnnotationAssertion( "EFO:0009630"^^xsd:string) AnnotationAssertion( "MESH:D003289"^^xsd:string) AnnotationAssertion( "Convalescences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004390"^^xsd:string) AnnotationAssertion(rdfs:label "Convalescence"^^xsd:string) SubClassOf( ) # Class: (Non-ST Elevated Myocardial Infarction) AnnotationAssertion(Annotation( "MESH:D000072658"^^xsd:string) "A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatment protocol (see also ST Elevation Myocardial Infarction)."^^xsd:string) AnnotationAssertion( "EFO:0008586"^^xsd:string) AnnotationAssertion( "MESH:D000072658"^^xsd:string) AnnotationAssertion( "RDO:0016117"^^xsd:string) AnnotationAssertion( "NSTEMI"^^xsd:string) AnnotationAssertion( "Non ST Elevation Myocardial Infarction"^^xsd:string) AnnotationAssertion( "Non-ST-Elevation Myocardial Infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004391"^^xsd:string) AnnotationAssertion(rdfs:label "Non-ST Elevated Myocardial Infarction"^^xsd:string) SubClassOf( ) # Class: (Cranial Nerve Neoplasms) AnnotationAssertion(Annotation( "MESH:D003390"^^xsd:string) "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-22T16:46:06Z"^^xsd:string) AnnotationAssertion( "MESH:D003390"^^xsd:string) AnnotationAssertion( "benign cranial nerve neoplasms"^^xsd:string) AnnotationAssertion( "benign cranial nerve tumors"^^xsd:string) AnnotationAssertion( "benign cranial neuroma"^^xsd:string) AnnotationAssertion( "benign cranial neuromas"^^xsd:string) AnnotationAssertion( "cranial nerve neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of cranial nerve"^^xsd:string) AnnotationAssertion( "tumor of the cranial nerve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004392"^^xsd:string) AnnotationAssertion(rdfs:label "Cranial Nerve Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Hemihyperplasia, Isolated) AnnotationAssertion( "MIM:235000"^^xsd:string) AnnotationAssertion( "MESH:C565524"^^xsd:string) AnnotationAssertion( "RDO:0014134"^^xsd:string) AnnotationAssertion( "HHP"^^xsd:string) AnnotationAssertion( "Hemi 3 Syndrome"^^xsd:string) AnnotationAssertion( "Hemihyperplasia"^^xsd:string) AnnotationAssertion( "Hemihypertrophy, Isolated"^^xsd:string) AnnotationAssertion( "IH"^^xsd:string) AnnotationAssertion( "HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004393"^^xsd:string) AnnotationAssertion(rdfs:label "Hemihyperplasia, Isolated"^^xsd:string) SubClassOf( ) # Class: (Pfeiffer Mayer Syndrome) AnnotationAssertion( "MESH:C537888"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004394"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer Mayer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Skin Appendage Carcinoma) AnnotationAssertion(Annotation( "MESH:D018280"^^xsd:string) "A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001183"^^xsd:string) AnnotationAssertion( "MESH:D018280"^^xsd:string) AnnotationAssertion( "Skin Appendage Carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004395"^^xsd:string) AnnotationAssertion(rdfs:label "Skin Appendage Carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type) AnnotationAssertion( "MIM:118230"^^xsd:string) AnnotationAssertion( "RDO:0014586"^^xsd:string) AnnotationAssertion( "MESH:C566137"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004396"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Calcification of Aortic Valve) AnnotationAssertion( "EFO:0005239"^^xsd:string) AnnotationAssertion( "MESH:C562942"^^xsd:string) AnnotationAssertion( "aortic valve calcification"^^xsd:string) AnnotationAssertion( "calcific aortic stenosis"^^xsd:string) AnnotationAssertion( "calcific aortic valve disease"^^xsd:string) AnnotationAssertion( "calcification of aortic valve"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004397"^^xsd:string) AnnotationAssertion(rdfs:label "Calcification of Aortic Valve"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Phosphoribosylpyrophosphate Synthetase Deficiency) AnnotationAssertion( "MESH:C537897"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004399"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphoribosylpyrophosphate Synthetase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 71) AnnotationAssertion(Annotation( "MIM:619831"^^xsd:string) "Characterized by male infertility due to nonobstructive azoospermia. Caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T15:50:33Z"^^xsd:string) AnnotationAssertion( "MIM:619831"^^xsd:string) AnnotationAssertion( "SPGF71"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004400"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 71"^^xsd:string) SubClassOf( ) # Class: (Secernentea Infections) AnnotationAssertion(Annotation( "MESH:D017190"^^xsd:string) "Infections with nematodes of the subclass SECERNENTEA."^^xsd:string) AnnotationAssertion( "MESH:D017190"^^xsd:string) AnnotationAssertion( "Phasmidia Infection"^^xsd:string) AnnotationAssertion( "Phasmidia Infections"^^xsd:string) AnnotationAssertion( "Secernentea Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004401"^^xsd:string) AnnotationAssertion(rdfs:label "Secernentea Infections"^^xsd:string) SubClassOf( ) # Class: (Congenital Upper Extremity Deformities) AnnotationAssertion(Annotation( "MESH:D038062"^^xsd:string) "Congenital structural abnormalities of the UPPER EXTREMITY."^^xsd:string) AnnotationAssertion( "MESH:D038062"^^xsd:string) AnnotationAssertion( "congenital upper limb deformities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004402"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Upper Extremity Deformities"^^xsd:string) SubClassOf( ) # Class: (uterine hyperstimulation) AnnotationAssertion(Annotation( "EFO:0020915"^^xsd:string) "This is a potential complication of labor induction when the contraction frequency exceeds more than five in a 10-minute time frame or as contractions exceeding more than two minutes in duration."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-23T17:34:52Z"^^xsd:string) AnnotationAssertion( "EFO:0020915"^^xsd:string) AnnotationAssertion( "hypertonic uterine dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004403"^^xsd:string) AnnotationAssertion(rdfs:label "uterine hyperstimulation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Hemophagocytic Lymphohistiocytoses) AnnotationAssertion( "Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)"^^xsd:string) AnnotationAssertion( "NCI:C61276"^^xsd:string) AnnotationAssertion( "FEL"^^xsd:string) AnnotationAssertion( "FHL"^^xsd:string) AnnotationAssertion( "FHLH"^^xsd:string) AnnotationAssertion( "Familial Hemophagocytic Reticulosis"^^xsd:string) AnnotationAssertion( "familial erythrophagocytic lymphohistiocytoses"^^xsd:string) AnnotationAssertion( "familial erythrophagocytic lymphohistiocytosis"^^xsd:string) AnnotationAssertion( "familial hemophagocytic histiocytoses"^^xsd:string) AnnotationAssertion( "familial hemophagocytic histiocytosis"^^xsd:string) AnnotationAssertion( "familial hemophagocytic lymphohistiocytosis"^^xsd:string) AnnotationAssertion( "familial hemophagocytic reticuloses"^^xsd:string) AnnotationAssertion( "familial histiocytic reticuloses"^^xsd:string) AnnotationAssertion( "familial histiocytic reticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004404"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hemophagocytic Lymphohistiocytoses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intradermal Nevus) AnnotationAssertion(Annotation( "MESH:D018330"^^xsd:string) "A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000995"^^xsd:string) AnnotationAssertion( "MESH:D018330"^^xsd:string) AnnotationAssertion( "Intradermal Nevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004405"^^xsd:string) AnnotationAssertion(rdfs:label "Intradermal Nevus"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Permanent Neonatal Diabetes Mellitus 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-01T10:28:50Z"^^xsd:string) AnnotationAssertion( "MIM:618858"^^xsd:string) AnnotationAssertion( "PNDM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004407"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus 4"^^xsd:string) SubClassOf( ) # Class: (Dilated Cardiomyopathy, Right Ventricular) AnnotationAssertion( "RDO:0014660"^^xsd:string) AnnotationAssertion( "MESH:C566255"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004408"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy, Right Ventricular"^^xsd:string) SubClassOf( ) # Class: (Abderhalden-Kaufmann-Lignac Syndrome) AnnotationAssertion( "MESH:C535335"^^xsd:string) AnnotationAssertion( "Abderhalden-Lignac-Kaufmann disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004409"^^xsd:string) AnnotationAssertion(rdfs:label "Abderhalden-Kaufmann-Lignac Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Threatened Abortion) AnnotationAssertion( "UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE."^^xsd:string) AnnotationAssertion( "MESH:D000033"^^xsd:string) AnnotationAssertion( "Threatened Abortions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004410"^^xsd:string) AnnotationAssertion(rdfs:label "Threatened Abortion"^^xsd:string) SubClassOf( ) # Class: (Atrioventricular Septal Defect and Common Atrioventricular Junction) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-07T13:47:28Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004411"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect and Common Atrioventricular Junction"^^xsd:string) SubClassOf( ) # Class: (Osteoma) AnnotationAssertion(Annotation( "MESH:D010016"^^xsd:string) "A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:0002423"^^xsd:string) AnnotationAssertion( "MESH:D010016"^^xsd:string) AnnotationAssertion( "Osteomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004412"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoma"^^xsd:string) SubClassOf( ) # Class: (Pre-Excitation, Mahaim-Type) AnnotationAssertion(Annotation( "MESH:D011227"^^xsd:string) "A form of ventricular pre-excitation characterized by a normal PR interval and a long QRS interval with an initial slow deflection (delta wave). In this syndrome, the atrial impulse travel to the ventricle via the MAHAIM FIBERS which connect ATRIOVENTRICULAR NODE directly to the right ventricle wall (NODOVENTRICULAR ACCESSORY PATHWAY) or to the RIGHT BUNDLE BRANCH OF HIS (nodofascicular accessory pathway)."^^xsd:string) AnnotationAssertion( "MESH:D011227"^^xsd:string) AnnotationAssertion( "RDO:0006400"^^xsd:string) AnnotationAssertion( "Mahaim Type Preexcitation"^^xsd:string) AnnotationAssertion( "Nodofascicular Mahaim Type Pre Excitation"^^xsd:string) AnnotationAssertion( "Nodoventricular Mahaim Type Pre Excitation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004413"^^xsd:string) AnnotationAssertion(rdfs:label "Pre-Excitation, Mahaim-Type"^^xsd:string) SubClassOf( ) # Class: (Atopic Dermatitis 1) AnnotationAssertion( "MIM:603165"^^xsd:string) AnnotationAssertion( "MESH:C566404"^^xsd:string) AnnotationAssertion( "ATOD1"^^xsd:string) AnnotationAssertion( "ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004414"^^xsd:string) AnnotationAssertion(rdfs:label "Atopic Dermatitis 1"^^xsd:string) SubClassOf( ) # Class: (Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis) AnnotationAssertion( "MIM:600273"^^xsd:string) AnnotationAssertion( "MESH:C536328"^^xsd:string) AnnotationAssertion( "NCI:C177539"^^xsd:string) AnnotationAssertion( "CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL"^^xsd:string) AnnotationAssertion( "PKDTS"^^xsd:string) AnnotationAssertion( "Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis"^^xsd:string) AnnotationAssertion( "Tuberous sclerosis-polycystic kidney disease contiguous gene syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004415"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paroxysmal Ventricular Fibrillation) AnnotationAssertion( "MESH:C537182"^^xsd:string) AnnotationAssertion( "RDO:0002970"^^xsd:string) AnnotationAssertion( "Idiopathic ventricular fibrillation"^^xsd:string) AnnotationAssertion( "Paroxysmal familial ventricular fibrillation"^^xsd:string) AnnotationAssertion( "TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004416"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Ventricular Fibrillation"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudotrisomy 13 Syndrome) AnnotationAssertion( "MIM:264480"^^xsd:string) AnnotationAssertion( "MESH:C535829"^^xsd:string) AnnotationAssertion( "NCI:C125418"^^xsd:string) AnnotationAssertion( "Pseudo trisomy 13 syndrome"^^xsd:string) AnnotationAssertion( "holoprosencephaly-polydactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004419"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudotrisomy 13 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 5) AnnotationAssertion( "MIM:612881"^^xsd:string) AnnotationAssertion( "RDO:0012072"^^xsd:string) AnnotationAssertion( "MESH:C567876"^^xsd:string) AnnotationAssertion( "CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL"^^xsd:string) AnnotationAssertion( "PVNH5"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopia associated with Chromosome 5q Deletion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004420"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 5"^^xsd:string) SubClassOf( ) # Class: (Intra-Abdominal Hypertension) AnnotationAssertion(Annotation( "MESH:D059325"^^xsd:string) "Pathological elevation of intra-abdominal pressure (>12 mm Hg). It may develop as a result of SEPSIS; PANCREATITIS; capillary leaks, burns, or surgery. When the pressure is higher than 20 mm Hg, often with end-organ dysfunction, it is referred to as abdominal compartment syndrome."^^xsd:string) AnnotationAssertion( "MESH:D059325"^^xsd:string) AnnotationAssertion( "RDO:0010007"^^xsd:string) AnnotationAssertion( "Abdominal Compartment Syndrome"^^xsd:string) AnnotationAssertion( "Abdominal Compartment Syndromes"^^xsd:string) AnnotationAssertion( "Intra-Abdominal Hypertensions"^^xsd:string) AnnotationAssertion( "Intraabdominal Hypertension"^^xsd:string) AnnotationAssertion( "Intraabdominal Hypertensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004421"^^xsd:string) AnnotationAssertion(rdfs:label "Intra-Abdominal Hypertension"^^xsd:string) SubClassOf( ) # Class: (Chagas Cardiomyopathy) AnnotationAssertion(Annotation( "MESH:D002598"^^xsd:string) "A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY."^^xsd:string) AnnotationAssertion( "EFO:0005529"^^xsd:string) AnnotationAssertion( "MESH:D002598"^^xsd:string) AnnotationAssertion( "RDO:0005179"^^xsd:string) AnnotationAssertion( "Cardiovascular Trypanosomiasis"^^xsd:string) AnnotationAssertion( "Myocarditis, Chagas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004422"^^xsd:string) AnnotationAssertion(rdfs:label "Chagas Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Syndactyly-Polydactyly-Earlobe Syndrome) AnnotationAssertion( "MIM:186350"^^xsd:string) AnnotationAssertion( "MESH:C566091"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004424"^^xsd:string) AnnotationAssertion(rdfs:label "Syndactyly-Polydactyly-Earlobe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Empyema) AnnotationAssertion(Annotation( "MESH:D004653"^^xsd:string) "Presence of pus in a hollow organ or body cavity."^^xsd:string) AnnotationAssertion( "EFO:0003097"^^xsd:string) AnnotationAssertion( "MESH:D004653"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004425"^^xsd:string) AnnotationAssertion(rdfs:label "Empyema"^^xsd:string) SubClassOf( ) # Class: (Lethal Congenital Contracture Syndrome 5) AnnotationAssertion( "MIM:615368"^^xsd:string) AnnotationAssertion( "LCCS5"^^xsd:string) AnnotationAssertion( "lethal centronuclear myopathy, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004426"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Contracture Syndrome 5"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorders) AnnotationAssertion(Annotation( "MESH:D065886"^^xsd:string) "These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. (From DSM-V)."^^xsd:string) AnnotationAssertion( "ARHGEF6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES"^^xsd:string) AnnotationAssertion( "EFO:0010642"^^xsd:string) AnnotationAssertion( "MESH:D065886"^^xsd:string) AnnotationAssertion( "Mental Disorders Diagnosed in Childhood"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL ABNORMALITY"^^xsd:string) AnnotationAssertion( "child mental disorder"^^xsd:string) AnnotationAssertion( "child mental disorders"^^xsd:string) AnnotationAssertion( "disorders usually diagnosed in infancy, childhood or adolescence"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "ARHGEF6-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "CDC42BPB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "CDC42BPB-RELATED NEURODEVELOPMENTAL SYNDROME"^^xsd:string) AnnotationAssertion( "CNOT9-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "CTR9-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "DDX23-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "DNHD1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "EEF1D-ASSOCIATED NEURODEVELOPMENTAL SYNDROME"^^xsd:string) AnnotationAssertion( "EZH1-NEURODEVELOPMENTAL SYNDROME"^^xsd:string) AnnotationAssertion( "GRID1-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "JMJD1C-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "JMJD1C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "JMJD1C-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "KIF21B-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "KLF7-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MYCBP2-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "NCKAP1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NOVEL PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "PRKAR1B-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "SCAF4-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "SYNCRIP-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "SYT1-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "TOP2B-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "VPS25-RELATED NEURODEVELOPMENTAL DELAY"^^xsd:string) AnnotationAssertion( "YWHAZ-RELATED NEURODEVELOPMENTAL SYNDROME"^^xsd:string) AnnotationAssertion( "ZNF292-RELATED NEURODEVELOPMENTAL CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004429"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperhidrosis Palmaris Et Plantaris) AnnotationAssertion( "MIM:144110"^^xsd:string) AnnotationAssertion( "MESH:C563185"^^xsd:string) AnnotationAssertion( "HYPERHIDROSIS, PRIMARY PALMAR"^^xsd:string) AnnotationAssertion( "HYPRPP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004430"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperhidrosis Palmaris Et Plantaris"^^xsd:string) SubClassOf( ) # Class: (Ghose Sachdev Kumar Syndrome) AnnotationAssertion( "Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma. (MESH)"^^xsd:string) AnnotationAssertion( "MESH:C537803"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004431"^^xsd:string) AnnotationAssertion(rdfs:label "Ghose Sachdev Kumar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parasitic Eye Infections) AnnotationAssertion(Annotation( "MESH:D015822"^^xsd:string) "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites."^^xsd:string) AnnotationAssertion( "RDO:0006731"^^xsd:string) AnnotationAssertion( "MESH:D015822"^^xsd:string) AnnotationAssertion( "Parasitic Eye Infection"^^xsd:string) AnnotationAssertion( "Parasitic Ocular Infection"^^xsd:string) AnnotationAssertion( "Parasitic Ocular Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004432"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Eye Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hamartoma, Precalcaneal Congenital Fibrolipomatous) AnnotationAssertion( "MIM:609808"^^xsd:string) AnnotationAssertion( "MESH:C565226"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004433"^^xsd:string) AnnotationAssertion(rdfs:label "Hamartoma, Precalcaneal Congenital Fibrolipomatous"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (WHITE-KERNOHAN SYNDROME) AnnotationAssertion(Annotation( "MIM:619426"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-26T10:13:56Z"^^xsd:string) AnnotationAssertion( "MIM:619426"^^xsd:string) AnnotationAssertion( "GLOBAL DEVELOPMENTAL DELAY, HYPOTONIA, AND CHARACTERISTIC FACIAL FEATURES"^^xsd:string) AnnotationAssertion( "WHIKERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004434"^^xsd:string) AnnotationAssertion(rdfs:label "WHITE-KERNOHAN SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Erythropoietic Protoporphyria 1) AnnotationAssertion( "Erythropoietic protoporphyria-1 (EPP1) is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase (FECH), the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. EPP1 is caused by compound heterozygous or homozygous mutation in FECH on chromosome 18q21. The disorder most often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation prevalent in some populations, resembling autosomal dominant inheritance with incomplete penetrance. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T08:49:35Z"^^xsd:string) AnnotationAssertion( "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA"^^xsd:string) AnnotationAssertion( "MIM:177000"^^xsd:string) AnnotationAssertion( "EPP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "INCREASED ERYTHROCYTE PROTOPORPHYRIN CONCENTRATION"^^xsd:string) AnnotationAssertion( "DOID:9004435"^^xsd:string) AnnotationAssertion(rdfs:label "Erythropoietic Protoporphyria 1"^^xsd:string) SubClassOf( ) # Class: (Atelosteogenesis Type 3) AnnotationAssertion( "MIM:108721"^^xsd:string) AnnotationAssertion( "FLNB-related spectrum disorder"^^xsd:string) AnnotationAssertion( "MESH:C579928"^^xsd:string) AnnotationAssertion( "AO3"^^xsd:string) AnnotationAssertion( "AOIII"^^xsd:string) AnnotationAssertion( "Atelosteogenesis Type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004436"^^xsd:string) AnnotationAssertion(rdfs:label "Atelosteogenesis Type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nonkeratan-Sulfate-Excreting Morquio Syndrome) AnnotationAssertion( "MIM:252300"^^xsd:string) AnnotationAssertion( "MESH:C536247"^^xsd:string) AnnotationAssertion( "Morquio Syndrome C"^^xsd:string) AnnotationAssertion( "Morquio Syndrome, Nonkeratosulfate-Excreting Type"^^xsd:string) AnnotationAssertion( "Morquio syndrome, nonkeratan-sulfate-excreting type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004437"^^xsd:string) AnnotationAssertion(rdfs:label "Nonkeratan-Sulfate-Excreting Morquio Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neutral Lipid Storage Disease with Myopathy) AnnotationAssertion( "MIM:610717"^^xsd:string) AnnotationAssertion( "MESH:C565192"^^xsd:string) AnnotationAssertion( "NLSDM"^^xsd:string) AnnotationAssertion( "neutral lipid storage disease without ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004438"^^xsd:string) AnnotationAssertion(rdfs:label "Neutral Lipid Storage Disease with Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Lp(A) Deficiency) AnnotationAssertion( "MIM:152200"^^xsd:string) AnnotationAssertion( "RDO:0012831"^^xsd:string) AnnotationAssertion( "MESH:C563618"^^xsd:string) AnnotationAssertion( "Lipoprotein(A) Deficiency, Congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004439"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Lp(A) Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Experimental Leukemia) AnnotationAssertion(Annotation( "MESH:D007942"^^xsd:string) "Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues."^^xsd:string) AnnotationAssertion( "RDO:0004956"^^xsd:string) AnnotationAssertion( "MESH:D007942"^^xsd:string) AnnotationAssertion( "Animal Leukemia Model"^^xsd:string) AnnotationAssertion( "Animal Leukemia Models"^^xsd:string) AnnotationAssertion( "Experimental Leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004441"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diffuse Brain Injuries) AnnotationAssertion(Annotation( "MESH:D000070625"^^xsd:string) "Brain injuries occurring over a wide area instead of specific focal area."^^xsd:string) AnnotationAssertion( "MESH:D000070625"^^xsd:string) AnnotationAssertion( "Diffuse Axonal Brain Injury"^^xsd:string) AnnotationAssertion( "Diffuse Brain Injury"^^xsd:string) AnnotationAssertion( "Diffuse Cerebral Injuries"^^xsd:string) AnnotationAssertion( "Diffuse Cerebral Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004442"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Brain Injuries"^^xsd:string) SubClassOf( ) # Class: (Intractable Pain) AnnotationAssertion(Annotation( "MESH:D010148"^^xsd:string) "Persistent pain that is refractory to some or all forms of treatment."^^xsd:string) AnnotationAssertion( "MESH:D010148"^^xsd:string) AnnotationAssertion( "Refractory Pain"^^xsd:string) AnnotationAssertion( "intractable pains"^^xsd:string) AnnotationAssertion( "refractory pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004443"^^xsd:string) AnnotationAssertion(rdfs:label "Intractable Pain"^^xsd:string) SubClassOf( ) # Class: (Senior-Loken Syndrome 8) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616307"^^xsd:string) AnnotationAssertion( "SLSN8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004444"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Macroepiphyseal Dysplasia, McAlister Coe Type) AnnotationAssertion( "MIM:248010"^^xsd:string) AnnotationAssertion( "MESH:C537721"^^xsd:string) AnnotationAssertion( "Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance"^^xsd:string) AnnotationAssertion( "McAlister Coe Whyte syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004445"^^xsd:string) AnnotationAssertion(rdfs:label "Macroepiphyseal Dysplasia, McAlister Coe Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alazami-Yuan Syndrome) AnnotationAssertion( "MIM:617126"^^xsd:string) AnnotationAssertion( "ALYUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004446"^^xsd:string) AnnotationAssertion(rdfs:label "Alazami-Yuan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001123"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004447"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Slow Virus Diseases) AnnotationAssertion(Annotation( "MESH:D012897"^^xsd:string) "Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. PRION DISEASES were originally considered part of this group."^^xsd:string) AnnotationAssertion( "MESH:D012897"^^xsd:string) AnnotationAssertion( "RDO:0004715"^^xsd:string) AnnotationAssertion( "Slow Virus Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004448"^^xsd:string) AnnotationAssertion(rdfs:label "Slow Virus Diseases"^^xsd:string) SubClassOf( ) # Class: (Chromosome 6, Monosomy 6q1) AnnotationAssertion( "MESH:C537808"^^xsd:string) AnnotationAssertion( "RDO:0003712"^^xsd:string) AnnotationAssertion( "Deletion 6q1"^^xsd:string) AnnotationAssertion( "Monosomy 6q1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004449"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Monosomy 6q1"^^xsd:string) SubClassOf( ) # Class: (Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)) AnnotationAssertion( "MIM:613710"^^xsd:string) AnnotationAssertion( "BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY"^^xsd:string) AnnotationAssertion( "STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY"^^xsd:string) AnnotationAssertion( "THMD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004450"^^xsd:string) AnnotationAssertion(rdfs:label "Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ovine Pulmonary Adenomatosis) AnnotationAssertion(Annotation( "MESH:D011648"^^xsd:string) "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by JAAGSIEKTE SHEEP RETROVIRUS."^^xsd:string) AnnotationAssertion( "RDO:0006436"^^xsd:string) AnnotationAssertion( "MESH:D011648"^^xsd:string) AnnotationAssertion( "Jaagsiekte"^^xsd:string) AnnotationAssertion( "Ovine Pulmonary Adenomatoses"^^xsd:string) AnnotationAssertion( "Ovine Pulmonary Carcinoma"^^xsd:string) AnnotationAssertion( "Ovine Pulmonary Carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004451"^^xsd:string) AnnotationAssertion(rdfs:label "Ovine Pulmonary Adenomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Townes-Brocks-Branchiootorenal-Like Syndrome) AnnotationAssertion( "MESH:C566272"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004452"^^xsd:string) AnnotationAssertion(rdfs:label "Townes-Brocks-Branchiootorenal-Like Syndrome"^^xsd:string) SubClassOf( ) # Class: (Orthostatic Intolerance) AnnotationAssertion(Annotation( "MESH:D054971"^^xsd:string) "Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)"^^xsd:string) AnnotationAssertion( "MIM:604715"^^xsd:string) AnnotationAssertion( "SLC6A2-related disorder"^^xsd:string) AnnotationAssertion( "EFO:1000645"^^xsd:string) AnnotationAssertion( "MESH:D054971"^^xsd:string) AnnotationAssertion( "MITRAL VALVE PROLAPSE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004453"^^xsd:string) AnnotationAssertion(rdfs:label "Orthostatic Intolerance"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multinodular Goiter 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-10T16:10:36Z"^^xsd:string) AnnotationAssertion( "MIM:138800"^^xsd:string) AnnotationAssertion( "MESH:C562732"^^xsd:string) AnnotationAssertion( "ORDO:276399"^^xsd:string) AnnotationAssertion( "Euthyroid Goiter"^^xsd:string) AnnotationAssertion( "GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION"^^xsd:string) AnnotationAssertion( "Goiter, multinodular 1, with or without sertoli-leydig cell tumors"^^xsd:string) AnnotationAssertion( "MNG1"^^xsd:string) AnnotationAssertion( "MULTINODULAR GOITER, ADOLESCENT"^^xsd:string) AnnotationAssertion( "SIMPLE GOITER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004454"^^xsd:string) AnnotationAssertion(rdfs:label "Multinodular Goiter 1"^^xsd:string) SubClassOf( ) # Class: (Femoral Hernia) AnnotationAssertion(Annotation( "MESH:D006550"^^xsd:string) "A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL."^^xsd:string) AnnotationAssertion( "EFO:1001791"^^xsd:string) AnnotationAssertion( "MESH:D006550"^^xsd:string) AnnotationAssertion( "Femoral Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004455"^^xsd:string) AnnotationAssertion(rdfs:label "Femoral Hernia"^^xsd:string) SubClassOf( ) # Class: (Pyometra) AnnotationAssertion(Annotation( "MESH:D055112"^^xsd:string) "An accumulation of PUS in the uterine cavity (UTERUS). Pyometra generally indicates the presence of infections."^^xsd:string) AnnotationAssertion( "MESH:D055112"^^xsd:string) AnnotationAssertion( "RDO:0007701"^^xsd:string) AnnotationAssertion( "Pyometras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004456"^^xsd:string) AnnotationAssertion(rdfs:label "Pyometra"^^xsd:string) SubClassOf( ) # Class: (Susac Syndrome) AnnotationAssertion(Annotation( "MESH:D055955"^^xsd:string) "A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss."^^xsd:string) AnnotationAssertion( "EFO:1001856"^^xsd:string) AnnotationAssertion( "MESH:D055955"^^xsd:string) AnnotationAssertion( "Retinocochleocerebral Vasculopathies"^^xsd:string) AnnotationAssertion( "Retinocochleocerebral Vasculopathy"^^xsd:string) AnnotationAssertion( "Susac's Syndrome"^^xsd:string) AnnotationAssertion( "Susacs Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004457"^^xsd:string) AnnotationAssertion(rdfs:label "Susac Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hematocolpos) AnnotationAssertion(Annotation( "MESH:D006399"^^xsd:string) "A blood-filled VAGINA that is obstructed."^^xsd:string) AnnotationAssertion( "MESH:D006399"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004458"^^xsd:string) AnnotationAssertion(rdfs:label "Hematocolpos"^^xsd:string) SubClassOf( ) # Class: (Trematode Infections) AnnotationAssertion(Annotation( "MESH:D014201"^^xsd:string) "These are infections caused by infestation with worms of the class Trematoda."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-29T15:38:23Z"^^xsd:string) AnnotationAssertion( "EFO:1001438"^^xsd:string) AnnotationAssertion( "MESH:D014201"^^xsd:string) AnnotationAssertion( "trematode Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004459"^^xsd:string) AnnotationAssertion(rdfs:label "Trematode Infections"^^xsd:string) SubClassOf( ) # Class: (Maxillofacial Injuries) AnnotationAssertion(Annotation( "MESH:D008446"^^xsd:string) "General or unspecified injuries involving the face and jaw (either upper, lower, or both)."^^xsd:string) AnnotationAssertion( "MESH:D008446"^^xsd:string) AnnotationAssertion( "Maxillofacial Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004460"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillofacial Injuries"^^xsd:string) SubClassOf( ) # Class: (Familial Persistent Stuttering 2) AnnotationAssertion( "MIM:609261"^^xsd:string) AnnotationAssertion( "RDO:0009299"^^xsd:string) AnnotationAssertion( "RDO:0012934"^^xsd:string) AnnotationAssertion( "MESH:C563756"^^xsd:string) AnnotationAssertion( "STUT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004461"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Persistent Stuttering 2"^^xsd:string) SubClassOf( ) # Class: (Atrophy) AnnotationAssertion(Annotation( "MESH:D001284"^^xsd:string) "Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes."^^xsd:string) AnnotationAssertion( "EFO:1000096"^^xsd:string) AnnotationAssertion( "MESH:D001284"^^xsd:string) AnnotationAssertion( "Atrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004462"^^xsd:string) AnnotationAssertion(rdfs:label "Atrophy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Skin Neoplasms) AnnotationAssertion(Annotation( "MESH:D012878"^^xsd:string) "Tumors or cancer of the SKIN."^^xsd:string) AnnotationAssertion( "EFO:0004198"^^xsd:string) AnnotationAssertion( "MESH:D012878"^^xsd:string) AnnotationAssertion( "neoplasm of skin"^^xsd:string) AnnotationAssertion( "neoplasm of skin by site"^^xsd:string) AnnotationAssertion( "skin neoplasm"^^xsd:string) AnnotationAssertion( "tumor of the skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004464"^^xsd:string) AnnotationAssertion(rdfs:label "Skin Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Lymphoid System Deterioration) AnnotationAssertion( "MIM:247630"^^xsd:string) AnnotationAssertion( "MESH:C565430"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004465"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Lymphoid System Deterioration"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment) AnnotationAssertion(Annotation( "MIM:620066"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-21T12:08:27Z"^^xsd:string) AnnotationAssertion( "MIM:620066"^^xsd:string) AnnotationAssertion( "DOHH RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "DOHH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDMVIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004467"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart) AnnotationAssertion( "An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)"^^xsd:string) AnnotationAssertion( "EFO:0009645"^^xsd:string) AnnotationAssertion( "MIM:616975"^^xsd:string) AnnotationAssertion( "NEDBEH"^^xsd:string) AnnotationAssertion( "RERE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004468"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Craniosynostosis 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T13:07:46Z"^^xsd:string) AnnotationAssertion( "MIM:600775"^^xsd:string) AnnotationAssertion( "CRS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004470"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis 4"^^xsd:string) SubClassOf( ) # Class: (VISS syndrome) AnnotationAssertion(Annotation( "MIM:619472"^^xsd:string) "This disease is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T09:53:42Z"^^xsd:string) AnnotationAssertion( "MIM:619472"^^xsd:string) AnnotationAssertion( "NCI:C198610"^^xsd:string) AnnotationAssertion( "IPO8-RELATED AORTOPATHY"^^xsd:string) AnnotationAssertion( "IPO8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY"^^xsd:string) AnnotationAssertion( "VISS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004471"^^xsd:string) AnnotationAssertion(rdfs:label "VISS syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Health Wellness 2) AnnotationAssertion( "MIM:603664"^^xsd:string) AnnotationAssertion( "RDO:0008897"^^xsd:string) AnnotationAssertion( "MHW2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004472"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Health Wellness 2"^^xsd:string) SubClassOf( ) # Class: (Monocytosis) AnnotationAssertion( "An abnormal increase in the number of monocytes in the circulating blood. [Merriam-Webster]"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004473"^^xsd:string) AnnotationAssertion(rdfs:label "Monocytosis"^^xsd:string) SubClassOf( ) # Class: (Bilateral Medial Tibial Torsion) AnnotationAssertion( "MIM:188800"^^xsd:string) AnnotationAssertion( "MESH:C566045"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004474"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Medial Tibial Torsion"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Retroperitoneal Neoplasms) AnnotationAssertion(Annotation( "MESH:D012186"^^xsd:string) "New abnormal growth of tissue in the RETROPERITONEAL SPACE."^^xsd:string) AnnotationAssertion( "RDO:0000739"^^xsd:string) AnnotationAssertion( "MESH:D012186"^^xsd:string) AnnotationAssertion( "neoplasm of retroperitoneum"^^xsd:string) AnnotationAssertion( "neoplasm of the retroperitoneum"^^xsd:string) AnnotationAssertion( "retroperitoneal neoplasm"^^xsd:string) AnnotationAssertion( "tumor of retroperitoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004476"^^xsd:string) AnnotationAssertion(rdfs:label "Retroperitoneal Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Borrelia Infections) AnnotationAssertion(Annotation( "MESH:D001899"^^xsd:string) "Infections with bacteria of the genus BORRELIA."^^xsd:string) AnnotationAssertion( "EFO:1000842"^^xsd:string) AnnotationAssertion( "MESH:D001899"^^xsd:string) AnnotationAssertion( "Borrelia Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004477"^^xsd:string) AnnotationAssertion(rdfs:label "Borrelia Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Islet Cell Tumor Syndrome) AnnotationAssertion( "MESH:C531777"^^xsd:string) AnnotationAssertion( "Bilateral pheochromocytoma and islet cell adenoma of the pancreas"^^xsd:string) AnnotationAssertion( "Chromaffinoma"^^xsd:string) AnnotationAssertion( "Familial islet cell tumors"^^xsd:string) AnnotationAssertion( "Familial pheochromocytoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004478"^^xsd:string) AnnotationAssertion(rdfs:label "Islet Cell Tumor Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (TDP-43 Proteinopathies) AnnotationAssertion(Annotation( "MESH:D057177"^^xsd:string) "Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease."^^xsd:string) AnnotationAssertion( "MESH:D057177"^^xsd:string) AnnotationAssertion( "TDP-43 proteinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004479"^^xsd:string) AnnotationAssertion(rdfs:label "TDP-43 Proteinopathies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Foveal Hypoplasia with Anterior Segment Anomalies) AnnotationAssertion( "MESH:C565006"^^xsd:string) AnnotationAssertion( "RDO:0013768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004480"^^xsd:string) AnnotationAssertion(rdfs:label "Foveal Hypoplasia with Anterior Segment Anomalies"^^xsd:string) SubClassOf( ) # Class: (Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type) AnnotationAssertion( "MIM:154570"^^xsd:string) AnnotationAssertion( "MESH:C563601"^^xsd:string) AnnotationAssertion( "MONDO:0007945"^^xsd:string) AnnotationAssertion( "Phosphodiester Glycoside Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004481"^^xsd:string) AnnotationAssertion(rdfs:label "Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type"^^xsd:string) SubClassOf( ) # Class: (Glycogen Storage Disease IIIB) AnnotationAssertion( "MESH:C566890"^^xsd:string) AnnotationAssertion( "GSD IIIB"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease, Type IIIb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004482"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease IIIB"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sepsis) AnnotationAssertion(Annotation( "MESH:D018805"^^xsd:string) "Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK."^^xsd:string) AnnotationAssertion( "EFO:0001420"^^xsd:string) AnnotationAssertion( "MESH:D018805"^^xsd:string) AnnotationAssertion( "Blood Poisoning"^^xsd:string) AnnotationAssertion( "Pyaemia"^^xsd:string) AnnotationAssertion( "Pyaemias"^^xsd:string) AnnotationAssertion( "Pyemia"^^xsd:string) AnnotationAssertion( "Pyemias"^^xsd:string) AnnotationAssertion( "Pyohemia"^^xsd:string) AnnotationAssertion( "Pyohemias"^^xsd:string) AnnotationAssertion( "Septicemia"^^xsd:string) AnnotationAssertion( "Septicemias"^^xsd:string) AnnotationAssertion( "blood poisonings"^^xsd:string) AnnotationAssertion( "septic shock"^^xsd:string) AnnotationAssertion( "severe sepsis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SEPSIS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9004484"^^xsd:string) AnnotationAssertion(rdfs:label "Sepsis"^^xsd:string) SubClassOf( ) # Class: (Cataract, Pulverulent) AnnotationAssertion( "MESH:C563426"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004485"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Pulverulent"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Drug-induced Neutropenia) AnnotationAssertion( "A significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY or other drug treatment."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004486"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-induced Neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality) AnnotationAssertion( "MIM:219721"^^xsd:string) AnnotationAssertion( "MESH:C565658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004488"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY) AnnotationAssertion(Annotation( "MIM:619196"^^xsd:string) "An autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-06T18:09:33Z"^^xsd:string) AnnotationAssertion( "MIM:619196"^^xsd:string) AnnotationAssertion( "DEAPLE"^^xsd:string) AnnotationAssertion( "congenital deafness and adult-onset progressive leukoencephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004489"^^xsd:string) AnnotationAssertion(rdfs:label "DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rhizomelic Syndrome) AnnotationAssertion( "MIM:268250"^^xsd:string) AnnotationAssertion( "MESH:C537611"^^xsd:string) AnnotationAssertion( "Familial rhizomelic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004490"^^xsd:string) AnnotationAssertion(rdfs:label "Rhizomelic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anonychia Onychodystrophy) AnnotationAssertion( "MESH:C536378"^^xsd:string) AnnotationAssertion( "RDO:0001941"^^xsd:string) AnnotationAssertion( "Absent nails and dystrophic nails"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004491"^^xsd:string) AnnotationAssertion(rdfs:label "Anonychia Onychodystrophy"^^xsd:string) SubClassOf( ) # Class: (Familial Amyloidosis) AnnotationAssertion(Annotation( "MESH:D028226"^^xsd:string) "Diseases in which there is a familial pattern of AMYLOIDOSIS."^^xsd:string) AnnotationAssertion( "RDO:0000616"^^xsd:string) AnnotationAssertion( "MESH:D028226"^^xsd:string) AnnotationAssertion( "NCI:C84555"^^xsd:string) AnnotationAssertion( "Amyloidosis - hereditaries"^^xsd:string) AnnotationAssertion( "Amyloidosis hereditary"^^xsd:string) AnnotationAssertion( "Familial Amyloidoses"^^xsd:string) AnnotationAssertion( "Hereditary Amyloidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004492"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Amyloidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Camptocormia) AnnotationAssertion( "MESH:C537968"^^xsd:string) AnnotationAssertion( "Bent Spine Syndrome"^^xsd:string) AnnotationAssertion( "Bent spine"^^xsd:string) AnnotationAssertion( "Camptocormism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004493"^^xsd:string) AnnotationAssertion(rdfs:label "Camptocormia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bidirectional Tachycardia) AnnotationAssertion( "MESH:C535438"^^xsd:string) AnnotationAssertion( "RDO:0000549"^^xsd:string) AnnotationAssertion( "Bidirectional ventricular tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004494"^^xsd:string) AnnotationAssertion(rdfs:label "Bidirectional Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Faciocardiorenal Syndrome) AnnotationAssertion( "MIM:227280"^^xsd:string) AnnotationAssertion( "MESH:C536388"^^xsd:string) AnnotationAssertion( "Eastman Bixler syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004495"^^xsd:string) AnnotationAssertion(rdfs:label "Faciocardiorenal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypertaurinuric Cardiomyopathy) AnnotationAssertion( "MIM:145350"^^xsd:string) AnnotationAssertion( "MESH:C564157"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004496"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertaurinuric Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Floriform Cataract) AnnotationAssertion( "MESH:C566160"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004497"^^xsd:string) AnnotationAssertion(rdfs:label "Floriform Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cumulative Trauma Disorders) AnnotationAssertion(Annotation( "MESH:D012090"^^xsd:string) "Harmful and painful condition caused by overuse or overexertion of some part of the musculoskeletal system, often resulting from work-related physical activities. It is characterized by inflammation, pain, or dysfunction of the involved joints, bones, ligaments, and nerves."^^xsd:string) AnnotationAssertion( "MESH:D012090"^^xsd:string) AnnotationAssertion( "RDO:0005142"^^xsd:string) AnnotationAssertion( "Cumulative Trauma Disorder"^^xsd:string) AnnotationAssertion( "Overuse Injuries"^^xsd:string) AnnotationAssertion( "Overuse Injury"^^xsd:string) AnnotationAssertion( "Overuse Syndrome"^^xsd:string) AnnotationAssertion( "Overuse Syndromes"^^xsd:string) AnnotationAssertion( "Repetition Strain Injuries"^^xsd:string) AnnotationAssertion( "Repetition Strain Injury"^^xsd:string) AnnotationAssertion( "Repetitive Motion Disorder"^^xsd:string) AnnotationAssertion( "Repetitive Motion Disorders"^^xsd:string) AnnotationAssertion( "Repetitive Strain Injuries"^^xsd:string) AnnotationAssertion( "Repetitive Strain Injury"^^xsd:string) AnnotationAssertion( "Repetitive Stress Injuries"^^xsd:string) AnnotationAssertion( "Repetitive Stress Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004498"^^xsd:string) AnnotationAssertion(rdfs:label "Cumulative Trauma Disorders"^^xsd:string) SubClassOf( ) # Class: (Noncirrhotic Portal Hypertension 2) AnnotationAssertion( "An autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Caused by homozygous mutation in the GIMAP5 gene on chromosome 7q36. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-06T16:19:35Z"^^xsd:string) AnnotationAssertion( "MIM:619463"^^xsd:string) AnnotationAssertion( "NCPH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004499"^^xsd:string) AnnotationAssertion(rdfs:label "Noncirrhotic Portal Hypertension 2"^^xsd:string) SubClassOf( ) # Class: (Mesomelic Dysplasia, Savarirayan Type) AnnotationAssertion( "MIM:605274"^^xsd:string) AnnotationAssertion( "MESH:C565349"^^xsd:string) AnnotationAssertion( "Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004500"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Dysplasia, Savarirayan Type"^^xsd:string) SubClassOf( ) # Class: (Meningeal Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014390"^^xsd:string) "A form of bacterial meningitis caused by MYCOBACTERIUM TUBERCULOSIS or rarely MYCOBACTERIUM BOVIS. The organism seeds the meninges and forms microtuberculomas which subsequently rupture. The clinical course tends to be subacute, with progressions occurring over a period of several days or longer. Headache and meningeal irritation may be followed by SEIZURES, cranial neuropathies, focal neurologic deficits, somnolence, and eventually COMA. The illness may occur in immunocompetent individuals or as an OPPORTUNISTIC INFECTION in the ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunodeficiency syndromes. (From Adams et al., Principles of Neurology, 6th ed, pp717-9)"^^xsd:string) AnnotationAssertion( "EFO:1000039"^^xsd:string) AnnotationAssertion( "MESH:D014390"^^xsd:string) AnnotationAssertion( "TB Meningitides"^^xsd:string) AnnotationAssertion( "TB Meningitis"^^xsd:string) AnnotationAssertion( "Tubercular Meningitides"^^xsd:string) AnnotationAssertion( "Tubercular Meningitis"^^xsd:string) AnnotationAssertion( "Tuberculosis Meningitides"^^xsd:string) AnnotationAssertion( "Tuberculosis Meningitis"^^xsd:string) AnnotationAssertion( "Tuberculous Hypertrophic Pachymeningitides"^^xsd:string) AnnotationAssertion( "Tuberculous Hypertrophic Pachymeningitis"^^xsd:string) AnnotationAssertion( "Tuberculous Meningitides"^^xsd:string) AnnotationAssertion( "meningeal tuberculoses"^^xsd:string) AnnotationAssertion( "tuberculous meningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004501"^^xsd:string) AnnotationAssertion(rdfs:label "Meningeal Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Patterson Pseudoleprechaunism Syndrome) AnnotationAssertion( "MIM:169170"^^xsd:string) AnnotationAssertion( "MESH:C536310"^^xsd:string) AnnotationAssertion( "Patterson's leprechaunoid syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004502"^^xsd:string) AnnotationAssertion(rdfs:label "Patterson Pseudoleprechaunism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hysteria) AnnotationAssertion(Annotation( "MESH:D007046"^^xsd:string) "Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice."^^xsd:string) AnnotationAssertion( "MESH:D007046"^^xsd:string) AnnotationAssertion( "Hysterical Neuroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004503"^^xsd:string) AnnotationAssertion(rdfs:label "Hysteria"^^xsd:string) SubClassOf( ) # Class: (Bonneau Syndrome) AnnotationAssertion( "MIM:263630"^^xsd:string) AnnotationAssertion( "MESH:C564875"^^xsd:string) AnnotationAssertion( "Polysyndactyly with Cardiac Malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004504"^^xsd:string) AnnotationAssertion(rdfs:label "Bonneau Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visceral Heterotaxy 3, Autosomal) AnnotationAssertion( "MIM:606325"^^xsd:string) AnnotationAssertion( "MESH:C565237"^^xsd:string) AnnotationAssertion( "HTX3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004505"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 3, Autosomal"^^xsd:string) SubClassOf( ) # Class: (VITAMIN D-DEPENDENT RICKETS, TYPE 3) AnnotationAssertion(Annotation( "MIM:619073"^^xsd:string) "An autosomal disease characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-27T16:39:37Z"^^xsd:string) AnnotationAssertion( "MIM:619073"^^xsd:string) AnnotationAssertion( "VDDR3"^^xsd:string) AnnotationAssertion( "Vitamin D-Dependent Rickets 3"^^xsd:string) AnnotationAssertion( "Vitamin D-dependent rickets-3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004506"^^xsd:string) AnnotationAssertion(rdfs:label "VITAMIN D-DEPENDENT RICKETS, TYPE 3"^^xsd:string) SubClassOf( ) # Class: (Hirsutism) AnnotationAssertion(Annotation( "MESH:D006628"^^xsd:string) "A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth."^^xsd:string) AnnotationAssertion( "MESH:D006628"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004507"^^xsd:string) AnnotationAssertion(rdfs:label "Hirsutism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mucocele) AnnotationAssertion(Annotation( "MESH:D009078"^^xsd:string) "A retention cyst of the salivary gland, lacrimal sac, paranasal sinuses, appendix, or gallbladder. (Stedman, 26th ed)"^^xsd:string) AnnotationAssertion( "OMIA:001524"^^xsd:string) AnnotationAssertion( "MESH:D009078"^^xsd:string) AnnotationAssertion( "Mucoceles"^^xsd:string) AnnotationAssertion( "Gallbladder mucoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004508"^^xsd:string) AnnotationAssertion(rdfs:label "Mucocele"^^xsd:string) SubClassOf( ) # Class: (Otoonychoperoneal Syndrome) AnnotationAssertion( "MIM:259780"^^xsd:string) AnnotationAssertion( "MESH:C564912"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004509"^^xsd:string) AnnotationAssertion(rdfs:label "Otoonychoperoneal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microgastria Limb Reduction Defect) AnnotationAssertion( "MIM:156810"^^xsd:string) AnnotationAssertion( "MESH:C537554"^^xsd:string) AnnotationAssertion( "Congenital microgastria and limb reduction defects"^^xsd:string) AnnotationAssertion( "Microgastria-limb reduction defects association"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004510"^^xsd:string) AnnotationAssertion(rdfs:label "Microgastria Limb Reduction Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIz) AnnotationAssertion(Annotation( "MIM:620201"^^xsd:string) "An autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Caused by homozygous mutation in the CAMLG gene on chromosome 5q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-20T08:14:48Z"^^xsd:string) AnnotationAssertion( "MIM:620201"^^xsd:string) AnnotationAssertion( "CDG IIz"^^xsd:string) AnnotationAssertion( "CDG2Z"^^xsd:string) AnnotationAssertion( "CDGIIZ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004511"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIz"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis 2) AnnotationAssertion( "MIM:604757"^^xsd:string) AnnotationAssertion( "MESH:C565753"^^xsd:string) AnnotationAssertion( "CRS2"^^xsd:string) AnnotationAssertion( "CSB"^^xsd:string) AnnotationAssertion( "Warman Mulliken Hayward syndrome"^^xsd:string) AnnotationAssertion( "craniosynostosis, Boston-type"^^xsd:string) AnnotationAssertion( "craniosynostosis, type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004512"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Craniosynostosis with Ocular Abnormalities and Hallucal Defects) AnnotationAssertion( "MIM:608279"^^xsd:string) AnnotationAssertion( "MESH:C564263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004513"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis with Ocular Abnormalities and Hallucal Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia) AnnotationAssertion( "MIM:606049"^^xsd:string) AnnotationAssertion( "MESH:C535656"^^xsd:string) AnnotationAssertion( "AOCH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004514"^^xsd:string) AnnotationAssertion(rdfs:label "Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Left Ventricular Noncompaction 7) AnnotationAssertion( "RDO:9000514"^^xsd:string) AnnotationAssertion( "MIM:615092"^^xsd:string) AnnotationAssertion( "NCI:C157266"^^xsd:string) AnnotationAssertion( "LVNC7"^^xsd:string) AnnotationAssertion( "MIB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004515"^^xsd:string) AnnotationAssertion(rdfs:label "Left Ventricular Noncompaction 7"^^xsd:string) SubClassOf( ) # Class: (Progressive Deafness with Stapes Fixation) AnnotationAssertion( "MIM:601449"^^xsd:string) AnnotationAssertion( "MESH:C563316"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004516"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Deafness with Stapes Fixation"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dysferlinopathy) AnnotationAssertion( "MESH:C537995"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004518"^^xsd:string) AnnotationAssertion(rdfs:label "Dysferlinopathy"^^xsd:string) SubClassOf( ) # Class: (Congenital Stationary Night Blindness 1I) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T14:59:10Z"^^xsd:string) AnnotationAssertion( "MIM:618555"^^xsd:string) AnnotationAssertion( "CSNB1I"^^xsd:string) AnnotationAssertion( "congenital stationary night blindness, type 1I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004519"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Stationary Night Blindness 1I"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures) AnnotationAssertion(Annotation( "MIM:618725"^^xsd:string) "A disease characterized by impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, and overgrowth are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-14T13:04:05Z"^^xsd:string) AnnotationAssertion( "EFO:0010660"^^xsd:string) AnnotationAssertion( "MIM:618725"^^xsd:string) AnnotationAssertion( "IDDBCS"^^xsd:string) AnnotationAssertion( "NEDMS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH MACROCEPHALY AND WITH OR WITHOUT SEIZURES"^^xsd:string) AnnotationAssertion( "PHF21A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004521"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pallister W Syndrome) AnnotationAssertion( "MIM:311450"^^xsd:string) AnnotationAssertion( "MESH:C538106"^^xsd:string) AnnotationAssertion( "Median cleft upper lip, mental retardation and pugilistic facies"^^xsd:string) AnnotationAssertion( "W syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004522"^^xsd:string) AnnotationAssertion(rdfs:label "Pallister W Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perceptual Disorders) AnnotationAssertion(Annotation( "MESH:D010468"^^xsd:string) "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body."^^xsd:string) AnnotationAssertion( "MESH:D010468"^^xsd:string) AnnotationAssertion( "Hemisensory Neglect"^^xsd:string) AnnotationAssertion( "Hemisensory Neglects"^^xsd:string) AnnotationAssertion( "Hemispatial Neglect"^^xsd:string) AnnotationAssertion( "Hemispatial Neglects"^^xsd:string) AnnotationAssertion( "Perceptual Disorder"^^xsd:string) AnnotationAssertion( "Sensory Neglect"^^xsd:string) AnnotationAssertion( "Sensory Neglects"^^xsd:string) AnnotationAssertion( "Somatosensory Discrimination Disorder"^^xsd:string) AnnotationAssertion( "Somatosensory Discrimination Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004523"^^xsd:string) AnnotationAssertion(rdfs:label "Perceptual Disorders"^^xsd:string) SubClassOf( ) # Class: (Granulomatous Mastitis) AnnotationAssertion(Annotation( "MESH:D058890"^^xsd:string) "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with BREAST FEEDING and the use of ORAL CONTRACEPTIVES."^^xsd:string) AnnotationAssertion( "MESH:D058890"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004524"^^xsd:string) AnnotationAssertion(rdfs:label "Granulomatous Mastitis"^^xsd:string) SubClassOf( ) # Class: (Vertebral Artery Dissection) AnnotationAssertion(Annotation( "MESH:D020217"^^xsd:string) "Splitting of the vessel wall in the VERTEBRAL ARTERY. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the vertebral artery, aneurysm formation, or THROMBOEMBOLISM. Vertebral artery dissection is often associated with TRAUMA and injuries to the head-neck region but can occur spontaneously."^^xsd:string) AnnotationAssertion( "MESH:D020217"^^xsd:string) AnnotationAssertion( "RDO:0007356"^^xsd:string) AnnotationAssertion( "Dissecting Vertebral Artery Aneurysm"^^xsd:string) AnnotationAssertion( "Spontaneous Vertebral Artery Dissection"^^xsd:string) AnnotationAssertion( "Traumatic Vertebral Artery Dissection"^^xsd:string) AnnotationAssertion( "Vertebral Artery Dissections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004525"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral Artery Dissection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (YAO SYNDROME) AnnotationAssertion(Annotation( "MIM:617321"^^xsd:string) "An autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-01-21T12:58:15Z"^^xsd:string) AnnotationAssertion( "MIM:617321"^^xsd:string) AnnotationAssertion( "YAOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SUSCEPTIBILITY TO YAO SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:9004527"^^xsd:string) AnnotationAssertion(rdfs:label "YAO SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kozlowski Warren Fisher Syndrome) AnnotationAssertion( "MESH:C537614"^^xsd:string) AnnotationAssertion( "Cloverleaf skull generalised bone dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004528"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski Warren Fisher Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Presbycusis 2) AnnotationAssertion( "MIM:612976"^^xsd:string) AnnotationAssertion( "MESH:C567834"^^xsd:string) AnnotationAssertion( "ARHI2"^^xsd:string) AnnotationAssertion( "Age-Related Hearing Impairment 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004529"^^xsd:string) AnnotationAssertion(rdfs:label "Presbycusis 2"^^xsd:string) SubClassOf( ) # Class: (Hypertriglyceridemic Waist) AnnotationAssertion(Annotation( "MESH:D064250"^^xsd:string) "A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level."^^xsd:string) AnnotationAssertion( "MESH:D064250"^^xsd:string) AnnotationAssertion( "RDO:0015836"^^xsd:string) AnnotationAssertion( "Enlarged Waist Elevated Triglycerides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004530"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertriglyceridemic Waist"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cardiovirus Infections) AnnotationAssertion(Annotation( "MESH:D018188"^^xsd:string) "Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007194"^^xsd:string) AnnotationAssertion( "MESH:D018188"^^xsd:string) AnnotationAssertion( "MONDO:0005691"^^xsd:string) AnnotationAssertion( "Cardiovirus infection"^^xsd:string) AnnotationAssertion( "Cardiovirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004531"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiovirus Infections"^^xsd:string) SubClassOf( ) # Class: (Restless Legs Syndrome 2) AnnotationAssertion( "MIM:608831"^^xsd:string) AnnotationAssertion( "MESH:C538360"^^xsd:string) AnnotationAssertion( "Autosomal dominant restless legs syndrome"^^xsd:string) AnnotationAssertion( "RLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "restless legs syndrome, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:9004532"^^xsd:string) AnnotationAssertion(rdfs:label "Restless Legs Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Orthostatic Hypotensive Disorder, Streeten Type) AnnotationAssertion( "MIM:143850"^^xsd:string) AnnotationAssertion( "MESH:C564174"^^xsd:string) AnnotationAssertion( "RDO:0013221"^^xsd:string) AnnotationAssertion( "Hyperbradykininism"^^xsd:string) AnnotationAssertion( "OHDS"^^xsd:string) AnnotationAssertion( "Orthostatic Hypotensive Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004533"^^xsd:string) AnnotationAssertion(rdfs:label "Orthostatic Hypotensive Disorder, Streeten Type"^^xsd:string) SubClassOf( ) # Class: (Laryngeal Edema) AnnotationAssertion(Annotation( "MESH:D007819"^^xsd:string) "Abnormal accumulation of fluid in tissues of any part of the LARYNX, commonly associated with laryngeal injuries and allergic reactions."^^xsd:string) AnnotationAssertion( "MESH:D007819"^^xsd:string) AnnotationAssertion( "Laryngeal Edemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004534"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Edema"^^xsd:string) SubClassOf( ) # Class: (Cytokine Release Syndrome) AnnotationAssertion( "A systemic inflammatory response triggered by a variety of factors used in IMMUNOTHERAPY. It is characterized by marked elevations of various inflammatory CYTOKINES and by the following associated conditions: DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA and/or HYPOXIA. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T17:11:44Z"^^xsd:string) AnnotationAssertion( "MESH:D000080424"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004535"^^xsd:string) AnnotationAssertion(rdfs:label "Cytokine Release Syndrome"^^xsd:string) SubClassOf( ) # Class: (Rett Syndrome, Zappella Variant) AnnotationAssertion( "MESH:C567442"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004536"^^xsd:string) AnnotationAssertion(rdfs:label "Rett Syndrome, Zappella Variant"^^xsd:string) SubClassOf( ) # Class: (Deafness, Nephritis, Anorectal Malformation) AnnotationAssertion( "MESH:C535996"^^xsd:string) AnnotationAssertion( "Dominant ano-rectal malformation, nephritis and nerve-deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004537"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Nephritis, Anorectal Malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hearing Loss) AnnotationAssertion(Annotation( "MESH:D034381"^^xsd:string) "A general term for the complete or partial loss of the ability to hear from one or both ears."^^xsd:string) AnnotationAssertion( "EFO:0004238"^^xsd:string) AnnotationAssertion( "MESH:D034381"^^xsd:string) AnnotationAssertion( "Hearing Impairment"^^xsd:string) AnnotationAssertion( "Hypoacuses"^^xsd:string) AnnotationAssertion( "Hypoacusis"^^xsd:string) AnnotationAssertion( "Hereditary Hearing Loss And Deafness"^^xsd:string) AnnotationAssertion( "NONSYNDROMIC HEARING LOSS, DOMINANT"^^xsd:string) AnnotationAssertion( "NONSYNDROMIC HEARING LOSS, MIXED"^^xsd:string) AnnotationAssertion( "NONSYNDROMIC HEARING LOSS, RECESSIVE"^^xsd:string) AnnotationAssertion( "NONSYNDROMIC HEARING LOSS, X-LINKED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004538"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Loss"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Islet Cell Adenomatosis) AnnotationAssertion( "MIM:147630"^^xsd:string) AnnotationAssertion( "MESH:C563258"^^xsd:string) AnnotationAssertion( "INSDM"^^xsd:string) AnnotationAssertion( "insulinomatosis and diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004540"^^xsd:string) AnnotationAssertion(rdfs:label "Islet Cell Adenomatosis"^^xsd:string) SubClassOf( ) # Class: (Heart Rupture) AnnotationAssertion(Annotation( "MESH:D006341"^^xsd:string) "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)."^^xsd:string) AnnotationAssertion( "MESH:D006341"^^xsd:string) AnnotationAssertion( "Cardiac Free Wall Rupture"^^xsd:string) AnnotationAssertion( "Cardiac Rupture"^^xsd:string) AnnotationAssertion( "Cardiac Ruptures"^^xsd:string) AnnotationAssertion( "Free Wall Rupture, Heart"^^xsd:string) AnnotationAssertion( "Heart Ruptures"^^xsd:string) AnnotationAssertion( "Ventricular Free Wall Rupture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004541"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Rupture"^^xsd:string) SubClassOf( ) # Class: (Antithrombin Deficiency Type 2) AnnotationAssertion( "MESH:C537779"^^xsd:string) AnnotationAssertion( "RDO:0003680"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004542"^^xsd:string) AnnotationAssertion(rdfs:label "Antithrombin Deficiency Type 2"^^xsd:string) SubClassOf( ) # Class: (NEUROOCULAR SYNDROME 1) AnnotationAssertion(Annotation( "MIM:619539"^^xsd:string) "This is a disease that encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development and eye abnormalities that show marked variability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-22T10:40:30Z"^^xsd:string) AnnotationAssertion( "NEUROOCULAR SYNDROME"^^xsd:string) AnnotationAssertion( "NOC"^^xsd:string) AnnotationAssertion( "MIM:619539"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004543"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROOCULAR SYNDROME 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chitayat Meunier Hodgkinson Syndrome) AnnotationAssertion( "MESH:C535926"^^xsd:string) AnnotationAssertion( "RDO:0001297"^^xsd:string) AnnotationAssertion( "Robin sequence with facial and digital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004544"^^xsd:string) AnnotationAssertion(rdfs:label "Chitayat Meunier Hodgkinson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Birth Injuries) AnnotationAssertion(Annotation( "MESH:D001720"^^xsd:string) "Mechanical or anoxic trauma incurred by the infant during labor or delivery."^^xsd:string) AnnotationAssertion( "MESH:D001720"^^xsd:string) AnnotationAssertion( "Birth Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004545"^^xsd:string) AnnotationAssertion(rdfs:label "Birth Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies) AnnotationAssertion( "MIM:607597"^^xsd:string) AnnotationAssertion( "MESH:C564370"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004546"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thyroid Neoplasms) AnnotationAssertion(Annotation( "MESH:D013964"^^xsd:string) "Tumors or cancer of the THYROID GLAND."^^xsd:string) AnnotationAssertion( "RDO:0002634"^^xsd:string) AnnotationAssertion( "EFO:0003841"^^xsd:string) AnnotationAssertion( "MESH:D013964"^^xsd:string) AnnotationAssertion( "NCI:C179056"^^xsd:string) AnnotationAssertion( "neoplasm of the thyroid gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:127018007"^^xsd:string) "neoplasm of thyroid gland"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3414"^^xsd:string) "thyroid gland neoplasm"^^xsd:string) AnnotationAssertion( "thyroid neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004547"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities) AnnotationAssertion(Annotation( "MIM:619026"^^xsd:string) "An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-15T13:30:45Z"^^xsd:string) AnnotationAssertion( "DOID:9007507"^^xsd:string) AnnotationAssertion( "MIM:619026"^^xsd:string) AnnotationAssertion( "MESH:C567853"^^xsd:string) AnnotationAssertion( "CPSQ1"^^xsd:string) AnnotationAssertion( "NEDSWMA"^^xsd:string) AnnotationAssertion( "quadriplegic spastic cerebral palsy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004548"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Feigenbaum Bergeron Richardson Syndrome) AnnotationAssertion( "MESH:C536178"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004549"^^xsd:string) AnnotationAssertion(rdfs:label "Feigenbaum Bergeron Richardson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Iatrogenic Disease) AnnotationAssertion(Annotation( "MESH:D007049"^^xsd:string) "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment."^^xsd:string) AnnotationAssertion( "MESH:D007049"^^xsd:string) AnnotationAssertion( "Hospital Acquired Condition"^^xsd:string) AnnotationAssertion( "Hospital-Acquired Conditions"^^xsd:string) AnnotationAssertion( "Iatrogenic Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004550"^^xsd:string) AnnotationAssertion(rdfs:label "Iatrogenic Disease"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 2A2) AnnotationAssertion( "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-15T10:14:20Z"^^xsd:string) AnnotationAssertion( "MESH:C563757"^^xsd:string) AnnotationAssertion( "ORDO:99947"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2"^^xsd:string) AnnotationAssertion( "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2"^^xsd:string) AnnotationAssertion( "CMT2A2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth Disease, Axonal, Type 2A2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease type 2A2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuronal type 2A2"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth neuropathy type 2A2"^^xsd:string) AnnotationAssertion( "HMSN IIA2"^^xsd:string) AnnotationAssertion( "HMSN2A2"^^xsd:string) AnnotationAssertion( "HMSNIIA2"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy 2A2"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy IIA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004551"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 2A2"^^xsd:string) SubClassOf( ) # Class: (Genu Varum) AnnotationAssertion(Annotation( "MESH:D056305"^^xsd:string) "An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)."^^xsd:string) AnnotationAssertion( "MESH:D056305"^^xsd:string) AnnotationAssertion( "RDO:0002856"^^xsd:string) AnnotationAssertion( "Bow Leg"^^xsd:string) AnnotationAssertion( "Bow Legs"^^xsd:string) AnnotationAssertion( "Genu Varus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004552"^^xsd:string) AnnotationAssertion(rdfs:label "Genu Varum"^^xsd:string) SubClassOf( ) # Class: (NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE) AnnotationAssertion(Annotation( "MIM:620636"^^xsd:string) "This disease is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-04T12:43:19Z"^^xsd:string) AnnotationAssertion( "MIM:620636"^^xsd:string) AnnotationAssertion( "CONDCAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004553"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Developmental and Epileptic Encephalopathy 111) AnnotationAssertion(Annotation( "MIM:620504"^^xsd:string) "An autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Caused by homozygous mutation in the DEPDC5 gene on chromosome 22q12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-22T10:19:57Z"^^xsd:string) AnnotationAssertion( "DEPDC5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620504"^^xsd:string) AnnotationAssertion( "DEE111"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004554"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental and Epileptic Encephalopathy 111"^^xsd:string) SubClassOf( ) # Class: (Retinal Degeneration and Epilepsy) AnnotationAssertion( "MIM:267740"^^xsd:string) AnnotationAssertion( "MESH:C564847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004555"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Degeneration and Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Melena) AnnotationAssertion(Annotation( "MESH:D008551"^^xsd:string) "The black, tarry, foul-smelling FECES that contain degraded blood."^^xsd:string) AnnotationAssertion( "MESH:D008551"^^xsd:string) AnnotationAssertion( "Melenas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004556"^^xsd:string) AnnotationAssertion(rdfs:label "Melena"^^xsd:string) SubClassOf( ) # Class: (Franceschini Vardeu Guala syndrome) AnnotationAssertion( "GARD:2371"^^xsd:string) AnnotationAssertion( "MESH:C537272"^^xsd:string) AnnotationAssertion( "MONDO:0023182"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004557"^^xsd:string) AnnotationAssertion(rdfs:label "Franceschini Vardeu Guala syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Jaw Fractures) AnnotationAssertion(Annotation( "MESH:D007572"^^xsd:string) "Fractures of the upper or lower jaw."^^xsd:string) AnnotationAssertion( "EFO:0009612"^^xsd:string) AnnotationAssertion( "MESH:D007572"^^xsd:string) AnnotationAssertion( "Jaw Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004559"^^xsd:string) AnnotationAssertion(rdfs:label "Jaw Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 4, Trisomy 4q25 qter) AnnotationAssertion( "MESH:C537646"^^xsd:string) AnnotationAssertion( "RDO:0003522"^^xsd:string) AnnotationAssertion( "Duplication 4q25 qter"^^xsd:string) AnnotationAssertion( "Trisomy 4q25 qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004560"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Trisomy 4q25 qter"^^xsd:string) SubClassOf( ) # Class: (Dental Fissures) AnnotationAssertion(Annotation( "MESH:D003750"^^xsd:string) "Deep grooves or clefts in the surface of teeth equivalent to class 1 cavities in Black's classification of dental caries."^^xsd:string) AnnotationAssertion( "MESH:D003750"^^xsd:string) AnnotationAssertion( "RDO:0005328"^^xsd:string) AnnotationAssertion( "Dental Fissure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004561"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Fissures"^^xsd:string) SubClassOf( ) # Class: (Smoke Inhalation Injury) AnnotationAssertion(Annotation( "MESH:D015208"^^xsd:string) "Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients."^^xsd:string) AnnotationAssertion( "MESH:D015208"^^xsd:string) AnnotationAssertion( "RDO:0006851"^^xsd:string) AnnotationAssertion( "Smoke Inhalation Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004562"^^xsd:string) AnnotationAssertion(rdfs:label "Smoke Inhalation Injury"^^xsd:string) SubClassOf( ) # Class: (Maxillofacial Abnormalities) AnnotationAssertion(Annotation( "MESH:D019767"^^xsd:string) "Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones."^^xsd:string) AnnotationAssertion( "MESH:D019767"^^xsd:string) AnnotationAssertion( "RDO:0000753"^^xsd:string) AnnotationAssertion( "Maxillofacial Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004563"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillofacial Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cantu Sanchez-Corona Fragoso Syndrome) AnnotationAssertion( "MESH:C535571"^^xsd:string) AnnotationAssertion( "RDO:0000769"^^xsd:string) AnnotationAssertion( "Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004564"^^xsd:string) AnnotationAssertion(rdfs:label "Cantu Sanchez-Corona Fragoso Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lambert Syndrome) AnnotationAssertion( "MIM:245550"^^xsd:string) AnnotationAssertion( "MESH:C538396"^^xsd:string) AnnotationAssertion( "Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004566"^^xsd:string) AnnotationAssertion(rdfs:label "Lambert Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature and Microcephaly with Genital Anomalies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T08:11:07Z"^^xsd:string) AnnotationAssertion( "EFO:0010665"^^xsd:string) AnnotationAssertion( "MIM:618702"^^xsd:string) AnnotationAssertion( "SSMGA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004567"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature and Microcephaly with Genital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Richieri Costa Da Silva Syndrome) AnnotationAssertion( "MESH:C535675"^^xsd:string) AnnotationAssertion( "RDO:0000929"^^xsd:string) AnnotationAssertion( "Tibial hemimelia-split hand-foot syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004568"^^xsd:string) AnnotationAssertion(rdfs:label "Richieri Costa Da Silva Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1) AnnotationAssertion( "MESH:C565821"^^xsd:string) AnnotationAssertion( "Isolated Left Ventricular Noncompaction, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004569"^^xsd:string) AnnotationAssertion(rdfs:label "Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1"^^xsd:string) SubClassOf( ) # Class: (Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation) AnnotationAssertion( "MIM:608227"^^xsd:string) AnnotationAssertion( "MESH:C564271"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004570"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Patella Hypoplasia Mental Retardation) AnnotationAssertion( "MESH:C536308"^^xsd:string) AnnotationAssertion( "RDO:0001835"^^xsd:string) AnnotationAssertion( "Mental retardation with patellar hypoplasia and luxation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004571"^^xsd:string) AnnotationAssertion(rdfs:label "Patella Hypoplasia Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dentinogenesis Imperfecta, Shields Type 3) AnnotationAssertion( "GARD:10144"^^xsd:string) AnnotationAssertion( "MESH:C538216"^^xsd:string) AnnotationAssertion( "MIM:125500"^^xsd:string) AnnotationAssertion( "MONDO:0007442"^^xsd:string) AnnotationAssertion( "ORDO:166265"^^xsd:string) AnnotationAssertion( "Brandywine type dentinogenesis imperfecta"^^xsd:string) AnnotationAssertion( "DGI-III"^^xsd:string) AnnotationAssertion( "Dentinogenesis Imperfecta, Shields Type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004572"^^xsd:string) AnnotationAssertion(rdfs:label "Dentinogenesis Imperfecta, Shields Type 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acalvaria) AnnotationAssertion( "MESH:C535570"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004574"^^xsd:string) AnnotationAssertion(rdfs:label "Acalvaria"^^xsd:string) SubClassOf( ) # Class: (Neoplasm Invasiveness) AnnotationAssertion(Annotation( "MESH:D009361"^^xsd:string) "Ability of neoplasms to infiltrate and actively destroy surrounding tissue."^^xsd:string) AnnotationAssertion( "MESH:D009361"^^xsd:string) AnnotationAssertion( "CANCER PROGRESSION"^^xsd:string) AnnotationAssertion( "CANCER PROGRESSION AND TUMOR CELL MOTILITY"^^xsd:string) AnnotationAssertion( "Neoplasm Invasion"^^xsd:string) AnnotationAssertion( "TUMOR CELL MOTILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004575"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm Invasiveness"^^xsd:string) SubClassOf( ) # Class: (Sleep Initiation and Maintenance Disorders) AnnotationAssertion(Annotation( "MESH:D007319"^^xsd:string) "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition."^^xsd:string) AnnotationAssertion( "EFO:0004698"^^xsd:string) AnnotationAssertion( "MESH:D007319"^^xsd:string) AnnotationAssertion( "Chronic Insomnia"^^xsd:string) AnnotationAssertion( "DIMS (Disorders of Initiating and Maintaining Sleep)"^^xsd:string) AnnotationAssertion( "Disorders of Initiating and Maintaining Sleep"^^xsd:string) AnnotationAssertion( "Early Awakening"^^xsd:string) AnnotationAssertion( "Insomnia"^^xsd:string) AnnotationAssertion( "Insomnia Disorder"^^xsd:string) AnnotationAssertion( "Insomnia Disorders"^^xsd:string) AnnotationAssertion( "Insomnias"^^xsd:string) AnnotationAssertion( "Nonorganic Insomnia"^^xsd:string) AnnotationAssertion( "Primary Insomnia"^^xsd:string) AnnotationAssertion( "Psychophysiological Insomnia"^^xsd:string) AnnotationAssertion( "Rebound Insomnia"^^xsd:string) AnnotationAssertion( "Secondary Insomnia"^^xsd:string) AnnotationAssertion( "Sleep Initiation Dysfunction"^^xsd:string) AnnotationAssertion( "Sleep Initiation Dysfunctions"^^xsd:string) AnnotationAssertion( "Sleeplessness"^^xsd:string) AnnotationAssertion( "Transient Insomnia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004576"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep Initiation and Maintenance Disorders"^^xsd:string) SubClassOf( ) # Class: (Stuve-Wiedemann Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-15T10:22:38Z"^^xsd:string) AnnotationAssertion( "MIM:PS601559"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004577"^^xsd:string) AnnotationAssertion(rdfs:label "Stuve-Wiedemann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bowen Syndrome) AnnotationAssertion( "MIM:211200"^^xsd:string) AnnotationAssertion( "MESH:C538164"^^xsd:string) AnnotationAssertion( "Bowen syndrome of multiple malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004578"^^xsd:string) AnnotationAssertion(rdfs:label "Bowen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic Pseudosclerosis) AnnotationAssertion( "MIM:270900"^^xsd:string) AnnotationAssertion( "MESH:C563024"^^xsd:string) AnnotationAssertion( "Corticopallidodegeneration"^^xsd:string) AnnotationAssertion( "Disseminated Encephalomyelopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004579"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Pseudosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Monteggia's Fracture) AnnotationAssertion(Annotation( "MESH:D009011"^^xsd:string) "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius."^^xsd:string) AnnotationAssertion( "EFO:1001811"^^xsd:string) AnnotationAssertion( "MESH:D009011"^^xsd:string) AnnotationAssertion( "Monteggia Fracture"^^xsd:string) AnnotationAssertion( "Monteggias Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004580"^^xsd:string) AnnotationAssertion(rdfs:label "Monteggia's Fracture"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pediatric Obesity) AnnotationAssertion(Annotation( "MESH:D063766"^^xsd:string) "BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures."^^xsd:string) AnnotationAssertion( "MESH:D063766"^^xsd:string) AnnotationAssertion( "Adolescent Obesity"^^xsd:string) AnnotationAssertion( "Child Obesity"^^xsd:string) AnnotationAssertion( "Childhood Obesity"^^xsd:string) AnnotationAssertion( "Childhood Onset Obesity"^^xsd:string) AnnotationAssertion( "Infant Obesity"^^xsd:string) AnnotationAssertion( "Infantile Obesity"^^xsd:string) AnnotationAssertion( "Obesity in Adolescence"^^xsd:string) AnnotationAssertion( "Obesity in Childhood"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004581"^^xsd:string) AnnotationAssertion(rdfs:label "Pediatric Obesity"^^xsd:string) SubClassOf( ) # Class: (CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY) AnnotationAssertion(Annotation( "MIM:619657"^^xsd:string) "This is a disease characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-03T17:58:54Z"^^xsd:string) AnnotationAssertion( "SMAD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619657"^^xsd:string) AnnotationAssertion( "CHTD8"^^xsd:string) AnnotationAssertion( "multiple types of congenital heart defects-8 with or without heterotaxy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004582"^^xsd:string) AnnotationAssertion(rdfs:label "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY"^^xsd:string) SubClassOf( ) # Class: (Ataxia Telangiectasia Like Disorder) AnnotationAssertion( "MESH:C565779"^^xsd:string) AnnotationAssertion( "MIM:PS604391"^^xsd:string) AnnotationAssertion( "ATLD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004583"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia Telangiectasia Like Disorder"^^xsd:string) SubClassOf( ) # Class: (Myopia 28) AnnotationAssertion(Annotation( "MIM:619781"^^xsd:string) "Early-onset high myopia in the first decade of life. Caused by homozygous or compound heterozygous mutation in the LOXL3 gene on chromosome 2p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-08T11:21:48Z"^^xsd:string) AnnotationAssertion( "MIM:619781"^^xsd:string) AnnotationAssertion( "MYP28"^^xsd:string) AnnotationAssertion( "myopia 28, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004584"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 28"^^xsd:string) SubClassOf( ) # Class: (GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619243"^^xsd:string) "This is a disease characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-13T12:29:46Z"^^xsd:string) AnnotationAssertion( "MIM:619243"^^xsd:string) AnnotationAssertion( "GDSBA"^^xsd:string) AnnotationAssertion( "TNRC6B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004585"^^xsd:string) AnnotationAssertion(rdfs:label "GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-14T13:12:34Z"^^xsd:string) AnnotationAssertion( "MIM:619016"^^xsd:string) AnnotationAssertion( "IFAP syndrome 2"^^xsd:string) AnnotationAssertion( "IFAP2"^^xsd:string) AnnotationAssertion( "follicular ichthyosis with atrichia and photophobia syndrome 2"^^xsd:string) AnnotationAssertion( "follicular ichthyosis, atrichia, and photophobia syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004587"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Adenophorea Infections) AnnotationAssertion(Annotation( "MESH:D017188"^^xsd:string) "Infections with nematodes of the subclass ADENOPHOREA."^^xsd:string) AnnotationAssertion( "MESH:D017188"^^xsd:string) AnnotationAssertion( "RDO:0007035"^^xsd:string) AnnotationAssertion( "Adenophorea Infection"^^xsd:string) AnnotationAssertion( "Aphasmidia Infection"^^xsd:string) AnnotationAssertion( "Aphasmidia Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004589"^^xsd:string) AnnotationAssertion(rdfs:label "Adenophorea Infections"^^xsd:string) SubClassOf( ) # Class: (Acute Liver Failure) AnnotationAssertion(Annotation( "MESH:D017114"^^xsd:string) "A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C."^^xsd:string) AnnotationAssertion( "RDO:0000601"^^xsd:string) AnnotationAssertion( "MESH:D017114"^^xsd:string) AnnotationAssertion( "Acute Hepatic Failure"^^xsd:string) AnnotationAssertion( "Fulminant Hepatic Failure"^^xsd:string) AnnotationAssertion( "Fulminant Hepatic Failures"^^xsd:string) AnnotationAssertion( "Fulminant Liver Failure"^^xsd:string) AnnotationAssertion( "Fulminant Liver Failures"^^xsd:string) AnnotationAssertion( "Fulminating Hepatic Failure"^^xsd:string) AnnotationAssertion( "Fulminating Hepatic Failures"^^xsd:string) AnnotationAssertion( "Fulminating Liver Failure"^^xsd:string) AnnotationAssertion( "Fulminating Liver Failures"^^xsd:string) AnnotationAssertion( "acute liver injury"^^xsd:string) AnnotationAssertion( "Recurrent Acute Liver Failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004590"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Liver Failure"^^xsd:string) SubClassOf( ) # Class: (Partington Anderson Syndrome) AnnotationAssertion( "MIM:260555"^^xsd:string) AnnotationAssertion( "MESH:C536299"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004591"^^xsd:string) AnnotationAssertion(rdfs:label "Partington Anderson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 13) AnnotationAssertion(Annotation( "MIM:620154"^^xsd:string) "A disease characterized by female infertility due to recurrent preimplantation embryonic arrest. Caused by homozygous or compound heterozygous mutation in the ZFP36L2 gene on chromosome 2p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T08:49:41Z"^^xsd:string) AnnotationAssertion( "MIM:620154"^^xsd:string) AnnotationAssertion( "OOMD13"^^xsd:string) AnnotationAssertion( "OZEMA13"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004592"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 13"^^xsd:string) SubClassOf( ) # Class: (Drug-Induced Immune Thrombocytopenia) AnnotationAssertion( "The development of thrombocytopenia, as a result of the medicinal administration of a drug."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000342"^^xsd:string) AnnotationAssertion( "DIIT"^^xsd:string) AnnotationAssertion( "DITP"^^xsd:string) AnnotationAssertion( "Drug-induced ITP"^^xsd:string) AnnotationAssertion( "Drug-induced Thrombocytopenia"^^xsd:string) AnnotationAssertion( "Drug-induced thrombocytopenic purpura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004593"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Immune Thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jaw Neoplasms) AnnotationAssertion( "Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D007573"^^xsd:string) AnnotationAssertion( "jaw neoplasm"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:126634001"^^xsd:string) "neoplasm of jaw"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004594"^^xsd:string) AnnotationAssertion(rdfs:label "Jaw Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diastema) AnnotationAssertion(Annotation( "MESH:D003970"^^xsd:string) "An abnormal opening or fissure between two adjacent teeth."^^xsd:string) AnnotationAssertion( "MESH:D003970"^^xsd:string) AnnotationAssertion( "RDO:0001770"^^xsd:string) AnnotationAssertion( "Diastemas"^^xsd:string) AnnotationAssertion( "Diastemata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004595"^^xsd:string) AnnotationAssertion(rdfs:label "Diastema"^^xsd:string) SubClassOf( ) # Class: (Infected Aneurysm) AnnotationAssertion(Annotation( "MESH:D000785"^^xsd:string) "Aneurysm due to growth of microorganisms in the arterial wall, or infection arising within preexisting arteriosclerotic aneurysms."^^xsd:string) AnnotationAssertion( "MESH:D000785"^^xsd:string) AnnotationAssertion( "Bacterial Aneurysm"^^xsd:string) AnnotationAssertion( "Bacterial Aneurysms"^^xsd:string) AnnotationAssertion( "Fungal Aneurysm"^^xsd:string) AnnotationAssertion( "Fungal Aneurysms"^^xsd:string) AnnotationAssertion( "Infected Aneurysms"^^xsd:string) AnnotationAssertion( "Mycotic Aneurysm"^^xsd:string) AnnotationAssertion( "Mycotic Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004596"^^xsd:string) AnnotationAssertion(rdfs:label "Infected Aneurysm"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly with Cervical Spine Fusion Anomalies) AnnotationAssertion( "MIM:251250"^^xsd:string) AnnotationAssertion( "MESH:C537325"^^xsd:string) AnnotationAssertion( "Microcephaly Cervical Spine Fusion Anomalies"^^xsd:string) AnnotationAssertion( "Microcephaly, mild mental retardation, short stature, and skeletal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004599"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Cervical Spine Fusion Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cochlear Deafness with Myopia and Intellectual Impairment) AnnotationAssertion( "RDO:0014228"^^xsd:string) AnnotationAssertion( "MESH:C565645"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004600"^^xsd:string) AnnotationAssertion(rdfs:label "Cochlear Deafness with Myopia and Intellectual Impairment"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Serratia Infections) AnnotationAssertion(Annotation( "MESH:D016868"^^xsd:string) "Infections with bacteria of the genus SERRATIA."^^xsd:string) AnnotationAssertion( "EFO:1001421"^^xsd:string) AnnotationAssertion( "MESH:D016868"^^xsd:string) AnnotationAssertion( "Serratia Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004601"^^xsd:string) AnnotationAssertion(rdfs:label "Serratia Infections"^^xsd:string) SubClassOf( ) # Class: (Exsanguination) AnnotationAssertion(Annotation( "MESH:D058734"^^xsd:string) "Rapid and extreme blood loss leading to HEMORRHAGIC SHOCK."^^xsd:string) AnnotationAssertion( "MESH:D058734"^^xsd:string) AnnotationAssertion( "Exsanguinating Hemorrhage"^^xsd:string) AnnotationAssertion( "Exsanguinating Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004602"^^xsd:string) AnnotationAssertion(rdfs:label "Exsanguination"^^xsd:string) SubClassOf( ) # Class: (Atkin Syndrome) AnnotationAssertion( "MIM:300431"^^xsd:string) AnnotationAssertion( "RDO:0004138"^^xsd:string) AnnotationAssertion( "MESH:C538195"^^xsd:string) AnnotationAssertion( "Atkin Flaitz Patil Smith syndrome"^^xsd:string) AnnotationAssertion( "Atkin-Flaitz syndrome"^^xsd:string) AnnotationAssertion( "X-linked mental retardation syndrome, Atkin type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Atkin type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, nonspecific"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, nonspecific, type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004603"^^xsd:string) AnnotationAssertion(rdfs:label "Atkin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autoinflammation with Episodic Fever and Lymphadenopathy) AnnotationAssertion(Annotation( "MIM:618852"^^xsd:string) "An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy and patient serum shows increased levels of inflammatory cytokines and chemokines, consistent with abnormal activation of the innate inflammatory system."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-06T13:35:27Z"^^xsd:string) AnnotationAssertion( "RIPK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0010737"^^xsd:string) AnnotationAssertion( "MIM:618852"^^xsd:string) AnnotationAssertion( "AIEFL"^^xsd:string) AnnotationAssertion( "CLEAVAGE-RESISTANT RIPK1-INDUCED AUTOINFLAMMATORY SYNDROME CRIA SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004604"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation with Episodic Fever and Lymphadenopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Digital Dermatitis) AnnotationAssertion(Annotation( "MESH:D058066"^^xsd:string) "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (LAMENESS, ANIMAL). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. DICHELOBACTER NODOSUS and TREPONEMA are the most commonly associated causative agents for this mixed bacterial infection disease."^^xsd:string) AnnotationAssertion( "MESH:D058066"^^xsd:string) AnnotationAssertion( "Bovine Digital Dermatitides"^^xsd:string) AnnotationAssertion( "Bovine Digital Dermatitis"^^xsd:string) AnnotationAssertion( "Bovine Foot Wart"^^xsd:string) AnnotationAssertion( "Bovine Foot Warts"^^xsd:string) AnnotationAssertion( "Bovine Hairy Footwart"^^xsd:string) AnnotationAssertion( "Bovine Hairy Footwarts"^^xsd:string) AnnotationAssertion( "Digital Dermatitides"^^xsd:string) AnnotationAssertion( "Digital Papillomatoses"^^xsd:string) AnnotationAssertion( "Digital Papillomatosis"^^xsd:string) AnnotationAssertion( "Ovine Digital Dermatitides"^^xsd:string) AnnotationAssertion( "Ovine Digital Dermatitis"^^xsd:string) AnnotationAssertion( "Papillomatous Digital Dermatitides"^^xsd:string) AnnotationAssertion( "Papillomatous Digital Dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004605"^^xsd:string) AnnotationAssertion(rdfs:label "Digital Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kuzniecky Andermann Syndrome) AnnotationAssertion( "MESH:C537722"^^xsd:string) AnnotationAssertion( "macrogyria, pseudobulbar palsy and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004606"^^xsd:string) AnnotationAssertion(rdfs:label "Kuzniecky Andermann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diaphragmatic Hernia 2) AnnotationAssertion( "MIM:222400"^^xsd:string) AnnotationAssertion( "MESH:C565629"^^xsd:string) AnnotationAssertion( "DIH2"^^xsd:string) AnnotationAssertion( "Hernia, congenital diaphragmatic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004607"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia 2"^^xsd:string) SubClassOf( ) # Class: (Tendon Entrapment) AnnotationAssertion(Annotation( "MESH:D053682"^^xsd:string) "Narrowing or stenosis of a tendon's retinacular sheath. It occurs most often in the hand or wrist but can also be found in the foot or ankle. The most common types are DE QUERVAIN DISEASE and TRIGGER FINGER DISORDER."^^xsd:string) AnnotationAssertion( "RDO:0007597"^^xsd:string) AnnotationAssertion( "EFO:0010822"^^xsd:string) AnnotationAssertion( "MESH:D053682"^^xsd:string) AnnotationAssertion( "Stenosing Tendovaginitides"^^xsd:string) AnnotationAssertion( "Stenosing Tendovaginitis"^^xsd:string) AnnotationAssertion( "Stenosing Tenosynovitides"^^xsd:string) AnnotationAssertion( "Stenosing Tenosynovitis"^^xsd:string) AnnotationAssertion( "Stenosing Tenovaginitides"^^xsd:string) AnnotationAssertion( "Stenosing Tenovaginitis"^^xsd:string) AnnotationAssertion( "Tendon Entrapments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004608"^^xsd:string) AnnotationAssertion(rdfs:label "Tendon Entrapment"^^xsd:string) SubClassOf( ) # Class: (Hereditary Spinal Ataxia) AnnotationAssertion( "MESH:C531684"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004609"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Spinal Ataxia"^^xsd:string) SubClassOf( ) # Class: (Acute Lung Injury) AnnotationAssertion(Annotation( "MESH:D055371"^^xsd:string) "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)."^^xsd:string) AnnotationAssertion( "EFO:0004610"^^xsd:string) AnnotationAssertion( "MESH:D055371"^^xsd:string) AnnotationAssertion( "RDO:0007706"^^xsd:string) AnnotationAssertion( "Acute Lung Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004610"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Lung Injury"^^xsd:string) SubClassOf( ) # Class: (Pathologic Processes) AnnotationAssertion(Annotation( "MESH:D010335"^^xsd:string) "The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs."^^xsd:string) AnnotationAssertion( "MESH:D010335"^^xsd:string) AnnotationAssertion( "Pathological Processes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004611"^^xsd:string) AnnotationAssertion(rdfs:label "Pathologic Processes"^^xsd:string) SubClassOf( ) # Class: (N-Acetylaspartate Deficiency) AnnotationAssertion( "MIM:614063"^^xsd:string) AnnotationAssertion( "RDO:9000677"^^xsd:string) AnnotationAssertion( "HYPOACETYLASPARTIA"^^xsd:string) AnnotationAssertion( "NAA DEFICIENCY"^^xsd:string) AnnotationAssertion( "NACED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004612"^^xsd:string) AnnotationAssertion(rdfs:label "N-Acetylaspartate Deficiency"^^xsd:string) SubClassOf( ) # Class: (Squamous Odontogenic Tumor) AnnotationAssertion(Annotation( "MESH:D051527"^^xsd:string) "A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez."^^xsd:string) AnnotationAssertion( "EFO:1001848"^^xsd:string) AnnotationAssertion( "MESH:D051527"^^xsd:string) AnnotationAssertion( "Squamous Odontogenic Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004613"^^xsd:string) AnnotationAssertion(rdfs:label "Squamous Odontogenic Tumor"^^xsd:string) SubClassOf( ) # Class: (Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type) AnnotationAssertion( "MIM:601375"^^xsd:string) AnnotationAssertion( "MESH:C536180"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004614"^^xsd:string) AnnotationAssertion(rdfs:label "Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type"^^xsd:string) SubClassOf( ) # Class: (Metachromatic Leukodystrophy due to Saposin B Deficiency) AnnotationAssertion( "MIM:249900"^^xsd:string) AnnotationAssertion( "MESH:C562609"^^xsd:string) AnnotationAssertion( "MLDSAPB"^^xsd:string) AnnotationAssertion( "Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency"^^xsd:string) AnnotationAssertion( "Saposin B Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004615"^^xsd:string) AnnotationAssertion(rdfs:label "Metachromatic Leukodystrophy due to Saposin B Deficiency"^^xsd:string) SubClassOf( ) # Class: (Left Ventricular Hypertrophy) AnnotationAssertion(Annotation( "MESH:D017379"^^xsd:string) "Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality."^^xsd:string) AnnotationAssertion( "RDO:0007042"^^xsd:string) AnnotationAssertion( "EFO:0003896"^^xsd:string) AnnotationAssertion( "MESH:D017379"^^xsd:string) AnnotationAssertion( "Increased Left Ventricular Wall Thickness"^^xsd:string) AnnotationAssertion( "Left Ventricular Hypertrophies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004616"^^xsd:string) AnnotationAssertion(rdfs:label "Left Ventricular Hypertrophy"^^xsd:string) SubClassOf( ) # Class: (Taurodontism, Microdontia, and Dens Invaginatus) AnnotationAssertion( "MIM:313490"^^xsd:string) AnnotationAssertion( "KIF4A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536947"^^xsd:string) AnnotationAssertion( "TMDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004617"^^xsd:string) AnnotationAssertion(rdfs:label "Taurodontism, Microdontia, and Dens Invaginatus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gallbladder Disease 1) AnnotationAssertion( "DOID:1949"^^xsd:string) AnnotationAssertion( "MIM:600803"^^xsd:string) AnnotationAssertion( "CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED"^^xsd:string) AnnotationAssertion( "GBD1"^^xsd:string) AnnotationAssertion( "LPAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004618"^^xsd:string) AnnotationAssertion(rdfs:label "Gallbladder Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pacman Dysplasia) AnnotationAssertion( "MIM:167220"^^xsd:string) AnnotationAssertion( "MESH:C538095"^^xsd:string) AnnotationAssertion( "Epiphyseal stippling with osteoclastic hyperplasia"^^xsd:string) AnnotationAssertion( "Pacman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004619"^^xsd:string) AnnotationAssertion(rdfs:label "Pacman Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Zenker Diverticulum) AnnotationAssertion(Annotation( "MESH:D016672"^^xsd:string) "A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus."^^xsd:string) AnnotationAssertion( "EFO:1001867"^^xsd:string) AnnotationAssertion( "MESH:D016672"^^xsd:string) AnnotationAssertion( "Esophago Pharyngeal Diverticula"^^xsd:string) AnnotationAssertion( "Esophago Pharyngeal Diverticulum"^^xsd:string) AnnotationAssertion( "Esophagopharyngeal Diverticulum"^^xsd:string) AnnotationAssertion( "Esophagopharyngeal Diverticulums"^^xsd:string) AnnotationAssertion( "Pharyngeal Diverticula"^^xsd:string) AnnotationAssertion( "Pharyngeal Diverticulum"^^xsd:string) AnnotationAssertion( "Pharyngo Esophageal Diverticula"^^xsd:string) AnnotationAssertion( "Pharyngo Esophageal Diverticulum"^^xsd:string) AnnotationAssertion( "Pharyngoesophageal Diverticula"^^xsd:string) AnnotationAssertion( "Pharyngoesophageal Diverticulum"^^xsd:string) AnnotationAssertion( "Pharyngoesophageal Pulsion Diverticula"^^xsd:string) AnnotationAssertion( "Pharyngoesophageal Pulsion Diverticulum"^^xsd:string) AnnotationAssertion( "Zenker Diverticula"^^xsd:string) AnnotationAssertion( "Zenker's Diverticula"^^xsd:string) AnnotationAssertion( "Zenker's Diverticulum"^^xsd:string) AnnotationAssertion( "Zenkers Diverticula"^^xsd:string) AnnotationAssertion( "Zenkers Diverticulum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004620"^^xsd:string) AnnotationAssertion(rdfs:label "Zenker Diverticulum"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Symmastia) AnnotationAssertion( "MESH:C538147"^^xsd:string) AnnotationAssertion( "Medial confluence of the breasts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004622"^^xsd:string) AnnotationAssertion(rdfs:label "Symmastia"^^xsd:string) SubClassOf( ) # Class: (Tooth Abrasion) AnnotationAssertion(Annotation( "MESH:D014072"^^xsd:string) "The pathologic wearing away of the tooth substance by brushing, bruxism, clenching, and other mechanical causes. It is differentiated from TOOTH ATTRITION in that this type of wearing away is the result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It differs also from TOOTH EROSION, the progressive loss of the hard substance of a tooth by chemical processes not involving bacterial action. (From Jablonski, Dictionary of Dentistry, 1992, p2)"^^xsd:string) AnnotationAssertion( "MESH:D014072"^^xsd:string) AnnotationAssertion( "Dental Abrasion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004623"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Abrasion"^^xsd:string) SubClassOf( ) # Class: (Shoulder Fractures) AnnotationAssertion(Annotation( "MESH:D012784"^^xsd:string) "Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities."^^xsd:string) AnnotationAssertion( "EFO:0009621"^^xsd:string) AnnotationAssertion( "MESH:D012784"^^xsd:string) AnnotationAssertion( "Greater Tuberosity Fracture"^^xsd:string) AnnotationAssertion( "Greater Tuberosity Fractures"^^xsd:string) AnnotationAssertion( "Proximal Humeral Fracture"^^xsd:string) AnnotationAssertion( "Proximal Humeral Fractures"^^xsd:string) AnnotationAssertion( "Shoulder Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004624"^^xsd:string) AnnotationAssertion(rdfs:label "Shoulder Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malacoplakia) AnnotationAssertion(Annotation( "MESH:D008287"^^xsd:string) "The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract."^^xsd:string) AnnotationAssertion( "EFO:1001807"^^xsd:string) AnnotationAssertion( "MESH:D008287"^^xsd:string) AnnotationAssertion( "Malacoplakias"^^xsd:string) AnnotationAssertion( "Malakoplakia"^^xsd:string) AnnotationAssertion( "Malakoplakias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004625"^^xsd:string) AnnotationAssertion(rdfs:label "Malacoplakia"^^xsd:string) SubClassOf( ) # Class: (Ocular Paraneoplastic Syndromes) AnnotationAssertion(Annotation( "MESH:D059545"^^xsd:string) "Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions."^^xsd:string) AnnotationAssertion( "RDO:0010022"^^xsd:string) AnnotationAssertion( "MESH:D059545"^^xsd:string) AnnotationAssertion( "Bilateral Diffuse Uveal Melanocytic Proliferation, Paraneoplastic"^^xsd:string) AnnotationAssertion( "Cancer Associated Retinopathy"^^xsd:string) AnnotationAssertion( "Cancer-Associated Retinopathies"^^xsd:string) AnnotationAssertion( "Melanoma Associated Retinopathy"^^xsd:string) AnnotationAssertion( "Melanoma-Associated Retinopathies"^^xsd:string) AnnotationAssertion( "Ocular Paraneoplastic Disease"^^xsd:string) AnnotationAssertion( "Ocular Paraneoplastic Diseases"^^xsd:string) AnnotationAssertion( "Ocular Paraneoplastic Syndrome"^^xsd:string) AnnotationAssertion( "Paraneoplastic Melanocytic Proliferation"^^xsd:string) AnnotationAssertion( "Paraneoplastic Melanocytic Proliferations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004626"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Paraneoplastic Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Limbal Stem Cell Deficiency) AnnotationAssertion( "Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:47:49Z"^^xsd:string) AnnotationAssertion( "MESH:D000092423"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004627"^^xsd:string) AnnotationAssertion(rdfs:label "Limbal Stem Cell Deficiency"^^xsd:string) SubClassOf( ) # Class: (Ohdo Syndrome, X-Linked) AnnotationAssertion( "MIM:300895"^^xsd:string) AnnotationAssertion( "OHDOX"^^xsd:string) AnnotationAssertion( "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004628"^^xsd:string) AnnotationAssertion(rdfs:label "Ohdo Syndrome, X-Linked"^^xsd:string) SubClassOf( ) # Class: (Gingival Fibromatosis 4) AnnotationAssertion( "MIM:611010"^^xsd:string) AnnotationAssertion( "MESH:C567028"^^xsd:string) AnnotationAssertion( "Fibromatosis, Gingival, Hereditary, 4"^^xsd:string) AnnotationAssertion( "GGF4"^^xsd:string) AnnotationAssertion( "GINGF4"^^xsd:string) AnnotationAssertion( "HGF4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004629"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis 4"^^xsd:string) SubClassOf( ) # Class: (Cataract, Zonular Central Nuclear) AnnotationAssertion( "MESH:C565135"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004630"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Zonular Central Nuclear"^^xsd:string) SubClassOf( ) # Class: (Cataract, Progressive Polymorphic Cortical) AnnotationAssertion( "MESH:C565130"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004631"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Progressive Polymorphic Cortical"^^xsd:string) SubClassOf( ) # Class: (Hereditary Hemorrhagic Telangiectasia, Type 3) AnnotationAssertion( "MIM:601101"^^xsd:string) AnnotationAssertion( "MESH:C537140"^^xsd:string) AnnotationAssertion( "HHT3"^^xsd:string) AnnotationAssertion( "Osler-Rendu-Weber Syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004632"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hemorrhagic Telangiectasia, Type 3"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Osteopetrosis 9) AnnotationAssertion(Annotation( "MIM:620366"^^xsd:string) "A disease characterized by increased bone density and bone fragility, as well as renal failure. Caused by compound heterozygous mutation in the SLC4A2 gene on chromosome 7q36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-10T09:45:58Z"^^xsd:string) AnnotationAssertion( "MIM:620366"^^xsd:string) AnnotationAssertion( "OPTB9"^^xsd:string) AnnotationAssertion( "osteopetrosis, Ikegawa type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004633"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Osteopetrosis 9"^^xsd:string) SubClassOf( ) # Class: (Cardiac Output, Low) AnnotationAssertion(Annotation( "MESH:D002303"^^xsd:string) "A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities."^^xsd:string) AnnotationAssertion( "MESH:D002303"^^xsd:string) AnnotationAssertion( "Low Cardiac Output Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004634"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Output, Low"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY) AnnotationAssertion(Annotation( "MIM:619157"^^xsd:string) "A disease characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-02-16T09:40:03Z"^^xsd:string) AnnotationAssertion( "MIM:619157"^^xsd:string) AnnotationAssertion( "NBEA-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "NBEA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDEGE"^^xsd:string) AnnotationAssertion( "NBEA-RELATED DEVELOPMENTAL DELAY AND GENERALIZED EPILEPSY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004635"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Specific Language Impairment 5) AnnotationAssertion( "MIM:615432"^^xsd:string) AnnotationAssertion( "SLI5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004636"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Language Impairment 5"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Intellectual Developmental Disorder 79) AnnotationAssertion(Annotation( "MIM:620393"^^xsd:string) "Autosomal recessive intellectual developmental disorder characterized by global developmental delay apparent from infancy, caused by compound heterozygous mutation in the TPR gene on chromosome 1q25. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T16:02:41Z"^^xsd:string) AnnotationAssertion( "MIM:620393"^^xsd:string) AnnotationAssertion( "MRT79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004637"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Intellectual Developmental Disorder 79"^^xsd:string) SubClassOf( ) # Class: (Classical Swine Fever) AnnotationAssertion(Annotation( "MESH:D006691"^^xsd:string) "An acute, highly contagious disease affecting swine of all ages and caused by the CLASSICAL SWINE FEVER VIRUS. It has a sudden onset with high morbidity and mortality."^^xsd:string) AnnotationAssertion( "MESH:D006691"^^xsd:string) AnnotationAssertion( "RDO:0005813"^^xsd:string) AnnotationAssertion( "Hog Cholera"^^xsd:string) AnnotationAssertion( "Swine Fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004638"^^xsd:string) AnnotationAssertion(rdfs:label "Classical Swine Fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kennerknecht Sorgo Oberhoffer Syndrome) AnnotationAssertion( "MIM:202660"^^xsd:string) AnnotationAssertion( "MESH:C537018"^^xsd:string) AnnotationAssertion( "PAGOD syndrome"^^xsd:string) AnnotationAssertion( "agonadism with multiple internal malformations"^^xsd:string) AnnotationAssertion( "agonadism, dextrocardia, diaphragmatic hernia"^^xsd:string) AnnotationAssertion( "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia"^^xsd:string) AnnotationAssertion( "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004640"^^xsd:string) AnnotationAssertion(rdfs:label "Kennerknecht Sorgo Oberhoffer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oculodentodigital Dysplasia, Autosomal Recessive) AnnotationAssertion( "MESH:C537733"^^xsd:string) AnnotationAssertion( "MIM:257850"^^xsd:string) AnnotationAssertion( "MESH:C567605"^^xsd:string) AnnotationAssertion( "ODDD, autosomal recessive"^^xsd:string) AnnotationAssertion( "ODOD, autosomal recessive"^^xsd:string) AnnotationAssertion( "oculodentodigital dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "oculodentoosseous dysplasia, autosomal recessive"^^xsd:string) AnnotationAssertion( "oculodentoosseous dysplasia, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004641"^^xsd:string) AnnotationAssertion(rdfs:label "Oculodentodigital Dysplasia, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Camptomelic Syndrome Long Limb Type) AnnotationAssertion( "MIM:211990"^^xsd:string) AnnotationAssertion( "MESH:C537977"^^xsd:string) AnnotationAssertion( "Campomelic syndrome long limb type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004642"^^xsd:string) AnnotationAssertion(rdfs:label "Camptomelic Syndrome Long Limb Type"^^xsd:string) SubClassOf( ) # Class: (Urologic Neoplasms) AnnotationAssertion(Annotation( "MESH:D014571"^^xsd:string) "Tumors or cancer of the URINARY TRACT in either the male or the female."^^xsd:string) AnnotationAssertion( "MESH:D014571"^^xsd:string) AnnotationAssertion( "NCI:C25806"^^xsd:string) AnnotationAssertion( "Urinary Tract Neoplasms"^^xsd:string) AnnotationAssertion( "Urological Neoplasm"^^xsd:string) AnnotationAssertion( "Urological Neoplasms"^^xsd:string) AnnotationAssertion( "neoplasm of urinary system"^^xsd:string) AnnotationAssertion( "tumor of the urinary system"^^xsd:string) AnnotationAssertion( "tumor of urinary tract"^^xsd:string) AnnotationAssertion( "urinary tract neoplasm"^^xsd:string) AnnotationAssertion( "urologic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004643"^^xsd:string) AnnotationAssertion(rdfs:label "Urologic Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Avitaminosis) AnnotationAssertion(Annotation( "MESH:D001361"^^xsd:string) "A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:0005878"^^xsd:string) AnnotationAssertion( "MESH:D001361"^^xsd:string) AnnotationAssertion( "Avitaminoses"^^xsd:string) AnnotationAssertion( "Vitamin Deficiencies"^^xsd:string) AnnotationAssertion( "Vitamin Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004644"^^xsd:string) AnnotationAssertion(rdfs:label "Avitaminosis"^^xsd:string) SubClassOf( ) # Class: (Familial Juvenile Hyperuricemic Nephropathy 3) AnnotationAssertion( "MIM:614227"^^xsd:string) AnnotationAssertion( "Familial juvenile hyperuricemia nephropathy-3"^^xsd:string) AnnotationAssertion( "HNFJ3"^^xsd:string) AnnotationAssertion( "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004645"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Juvenile Hyperuricemic Nephropathy 3"^^xsd:string) SubClassOf( ) # Class: (Joint Deformities, Acquired) AnnotationAssertion(Annotation( "MESH:D016916"^^xsd:string) "Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy."^^xsd:string) AnnotationAssertion( "MESH:D016916"^^xsd:string) AnnotationAssertion( "RDO:0007011"^^xsd:string) AnnotationAssertion( "Acquired Joint Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004646"^^xsd:string) AnnotationAssertion(rdfs:label "Joint Deformities, Acquired"^^xsd:string) SubClassOf( ) # Class: (Tauopathy and Respiratory Failure) AnnotationAssertion( "MESH:C563580"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004647"^^xsd:string) AnnotationAssertion(rdfs:label "Tauopathy and Respiratory Failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 6 Ring Syndrome) AnnotationAssertion( "MESH:C537763"^^xsd:string) AnnotationAssertion( "Ring 6, Chromosome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004648"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6 Ring Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heat Stroke) AnnotationAssertion(Annotation( "MESH:D018883"^^xsd:string) "A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly."^^xsd:string) AnnotationAssertion( "EFO:1001340"^^xsd:string) AnnotationAssertion( "MESH:D018883"^^xsd:string) AnnotationAssertion( "Heat Strokes"^^xsd:string) AnnotationAssertion( "Heatstroke"^^xsd:string) AnnotationAssertion( "Heatstrokes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004649"^^xsd:string) AnnotationAssertion(rdfs:label "Heat Stroke"^^xsd:string) SubClassOf( ) # Class: (Mandibular Injuries) AnnotationAssertion(Annotation( "MESH:D008338"^^xsd:string) "Injuries to the lower jaw bone."^^xsd:string) AnnotationAssertion( "MESH:D008338"^^xsd:string) AnnotationAssertion( "RDO:0006062"^^xsd:string) AnnotationAssertion( "Mandibular Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004650"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Injuries"^^xsd:string) SubClassOf( ) # Class: (Parana Hard Skin Syndrome) AnnotationAssertion( "MIM:260530"^^xsd:string) AnnotationAssertion( "MESH:C564905"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004651"^^xsd:string) AnnotationAssertion(rdfs:label "Parana Hard Skin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megalocytic Interstitial Nephritis) AnnotationAssertion( "MESH:C536144"^^xsd:string) AnnotationAssertion( "RDO:0001599"^^xsd:string) AnnotationAssertion( "Transplant megalocytic interstitial nephritis (type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004652"^^xsd:string) AnnotationAssertion(rdfs:label "Megalocytic Interstitial Nephritis"^^xsd:string) SubClassOf( ) # Class: (Hadziselimovic Syndrome) AnnotationAssertion( "MIM:612946"^^xsd:string) AnnotationAssertion( "MESH:C567850"^^xsd:string) AnnotationAssertion( "Microcephaly-Faciocardioskeletal Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004653"^^xsd:string) AnnotationAssertion(rdfs:label "Hadziselimovic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immune Deficiency Disease) AnnotationAssertion( "MESH:C565469"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004654"^^xsd:string) AnnotationAssertion(rdfs:label "Immune Deficiency Disease"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Echinococcosis) AnnotationAssertion(Annotation( "MESH:D004445"^^xsd:string) "Helminth infection of the lung caused by Echinococcus granulosus or Echinococcus multilocularis."^^xsd:string) AnnotationAssertion( "RDO:0005431"^^xsd:string) AnnotationAssertion( "MESH:D004445"^^xsd:string) AnnotationAssertion( "Pulmonary Hydatid Cyst"^^xsd:string) AnnotationAssertion( "Pulmonary Hydatid Cysts"^^xsd:string) AnnotationAssertion( "Pulmonary Hydatidoses"^^xsd:string) AnnotationAssertion( "pulmonary echinococcoses"^^xsd:string) AnnotationAssertion( "pulmonary hydatidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004655"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Airway Remodeling) AnnotationAssertion(Annotation( "MESH:D056151"^^xsd:string) "The structural changes in the number, mass, size and/or composition of the airway tissues."^^xsd:string) AnnotationAssertion( "MESH:D056151"^^xsd:string) AnnotationAssertion( "Airway Remodelings"^^xsd:string) AnnotationAssertion( "Airway Remodelling"^^xsd:string) AnnotationAssertion( "Airway Remodellings"^^xsd:string) AnnotationAssertion( "Airway Wall Remodelling"^^xsd:string) AnnotationAssertion( "Airway Wall Remodellings"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Remodeling"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Remodelings"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Remodelling"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Remodellings"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Wall Remodeling"^^xsd:string) AnnotationAssertion( "Asthmatic Airway Wall Remodelling"^^xsd:string) AnnotationAssertion( "Small Airway Remodeling"^^xsd:string) AnnotationAssertion( "Small Airway Remodelings"^^xsd:string) AnnotationAssertion( "Small Airway Remodelling"^^xsd:string) AnnotationAssertion( "Small Airway Remodellings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004656"^^xsd:string) AnnotationAssertion(rdfs:label "Airway Remodeling"^^xsd:string) SubClassOf( ) # Class: (Weight Gain) AnnotationAssertion(Annotation( "MESH:D015430"^^xsd:string) "Increase in BODY WEIGHT over existing weight."^^xsd:string) AnnotationAssertion( "MESH:D015430"^^xsd:string) AnnotationAssertion( "Weight Gains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004657"^^xsd:string) AnnotationAssertion(rdfs:label "Weight Gain"^^xsd:string) SubClassOf( ) # Class: (Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction) AnnotationAssertion( "MIM:268315"^^xsd:string) AnnotationAssertion( "MESH:C564829"^^xsd:string) AnnotationAssertion( "RCDFRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004658"^^xsd:string) AnnotationAssertion(rdfs:label "Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiration Disorders) AnnotationAssertion(Annotation( "MESH:D012120"^^xsd:string) "Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available."^^xsd:string) AnnotationAssertion( "MESH:D012120"^^xsd:string) AnnotationAssertion( "Respiration Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004659"^^xsd:string) AnnotationAssertion(rdfs:label "Respiration Disorders"^^xsd:string) SubClassOf( ) # Class: (Cerebrospinal Fluid Otorrhea) AnnotationAssertion(Annotation( "MESH:D002558"^^xsd:string) "Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)"^^xsd:string) AnnotationAssertion( "EFO:1001775"^^xsd:string) AnnotationAssertion( "MESH:D002558"^^xsd:string) AnnotationAssertion( "RDO:0005170"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Otorrheas"^^xsd:string) AnnotationAssertion( "Cerebrospinal Otorrhea"^^xsd:string) AnnotationAssertion( "Post Traumatic Cerebrospinal Fluid Otorrhea"^^xsd:string) AnnotationAssertion( "Spontaneous Cerebrospinal Fluid Otorrhea"^^xsd:string) AnnotationAssertion( "Traumatic Cerebrospinal Fluid Otorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004660"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrospinal Fluid Otorrhea"^^xsd:string) SubClassOf( ) # Class: (Levator Syndrome) AnnotationAssertion( "MESH:C535890"^^xsd:string) AnnotationAssertion( "Levator ani spasm syndrome"^^xsd:string) AnnotationAssertion( "Levator ani syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004661"^^xsd:string) AnnotationAssertion(rdfs:label "Levator Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects) AnnotationAssertion( "RDO:9000703"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004662"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Ischemia) AnnotationAssertion( "A hypoperfusion of the blood through the intestine caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation."^^xsd:string) AnnotationAssertion( "intestine ischemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004663"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Viral Hemorrhagic Septicemia) AnnotationAssertion(Annotation( "MESH:D031941"^^xsd:string) "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see NOVIRHABDOVIRUS),"^^xsd:string) AnnotationAssertion( "RDO:0007481"^^xsd:string) AnnotationAssertion( "EFO:0007539"^^xsd:string) AnnotationAssertion( "MESH:D031941"^^xsd:string) AnnotationAssertion( "Viral Haemorrhagic Septicaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004664"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Hemorrhagic Septicemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pectus Carinatum) AnnotationAssertion(Annotation( "MESH:D066166"^^xsd:string) "A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE."^^xsd:string) AnnotationAssertion( "MESH:D066166"^^xsd:string) AnnotationAssertion( "Arcuate Pectus Carinatum"^^xsd:string) AnnotationAssertion( "Arcuate Pectus Carinatums"^^xsd:string) AnnotationAssertion( "Chondrogladiolar Pectus Carinatum"^^xsd:string) AnnotationAssertion( "Chondrogladiolar Pectus Carinatums"^^xsd:string) AnnotationAssertion( "Chondromanubrial Pectus Carinatum"^^xsd:string) AnnotationAssertion( "Chondromanubrial Pectus Carinatums"^^xsd:string) AnnotationAssertion( "Currarino Silverman Syndrome"^^xsd:string) AnnotationAssertion( "Pectus Carinatums"^^xsd:string) AnnotationAssertion( "Pouter Pigeon Breast"^^xsd:string) AnnotationAssertion( "Pouter Pigeon Breasts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004665"^^xsd:string) AnnotationAssertion(rdfs:label "Pectus Carinatum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Major Affective Disorder 4) AnnotationAssertion( "MIM:611247"^^xsd:string) AnnotationAssertion( "RDO:0015250"^^xsd:string) AnnotationAssertion( "MESH:C567073"^^xsd:string) AnnotationAssertion( "MAFD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004666"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 4"^^xsd:string) SubClassOf( ) # Class: (Malformations of Cortical Development, Group II) AnnotationAssertion(Annotation( "MESH:D054081"^^xsd:string) "Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA."^^xsd:string) AnnotationAssertion( "MESH:D054081"^^xsd:string) AnnotationAssertion( "RDO:0007654"^^xsd:string) AnnotationAssertion( "Cortical Malformations, Group II"^^xsd:string) AnnotationAssertion( "Malformations Due to Abnormal Neuronal Migration"^^xsd:string) AnnotationAssertion( "Malformations Secondary to Abnormal Neuronal Migration"^^xsd:string) AnnotationAssertion( "Neuronal Migration Disorder"^^xsd:string) AnnotationAssertion( "Neuronal Migration Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004667"^^xsd:string) AnnotationAssertion(rdfs:label "Malformations of Cortical Development, Group II"^^xsd:string) SubClassOf( ) # Class: (Varicella Zoster infection) AnnotationAssertion(Annotation( "NCI:C96407"^^xsd:string) "This is a highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-24T15:59:03Z"^^xsd:string) AnnotationAssertion( "EFO:0006509"^^xsd:string) AnnotationAssertion( "Varicella-Zoster Virus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004668"^^xsd:string) AnnotationAssertion(rdfs:label "Varicella Zoster infection"^^xsd:string) SubClassOf( ) # Class: (Paroxysmal Tachycardia) AnnotationAssertion(Annotation( "MESH:D013614"^^xsd:string) "Abnormally rapid heartbeats with sudden onset and cessation."^^xsd:string) AnnotationAssertion( "EFO:0009493"^^xsd:string) AnnotationAssertion( "MESH:D013614"^^xsd:string) AnnotationAssertion( "Paroxysmal Reciprocal Tachycardia"^^xsd:string) AnnotationAssertion( "paroxysmal reciprocal tachycardias"^^xsd:string) AnnotationAssertion( "paroxysmal tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004669"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Weyers Ulnar Ray/Oligodactyly Syndrome) AnnotationAssertion( "MIM:602418"^^xsd:string) AnnotationAssertion( "MESH:C536696"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004670"^^xsd:string) AnnotationAssertion(rdfs:label "Weyers Ulnar Ray/Oligodactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome) AnnotationAssertion( "MESH:C538657"^^xsd:string) AnnotationAssertion( "Mende Syndrome"^^xsd:string) AnnotationAssertion( "Ptosis-Epicanthus Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004671"^^xsd:string) AnnotationAssertion(rdfs:label "Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurocutaneous Melanosis) AnnotationAssertion( "MIM:249400"^^xsd:string) AnnotationAssertion( "MESH:C537387"^^xsd:string) AnnotationAssertion( "RDO:0003225"^^xsd:string) AnnotationAssertion( "NCMS"^^xsd:string) AnnotationAssertion( "NEUROMELANOSIS"^^xsd:string) AnnotationAssertion( "Neurocutaneous melanosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004672"^^xsd:string) AnnotationAssertion(rdfs:label "Neurocutaneous Melanosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hearing Loss, Cisplatin-Induced) AnnotationAssertion( "Hearing loss due to the toxic effects of the anti-cancer drug cisplatin upon the auditory hair cells of the cochlea."^^xsd:string) AnnotationAssertion( "RDO:0009807"^^xsd:string) AnnotationAssertion( "RDO:9000044"^^xsd:string) AnnotationAssertion( "MIM:613290"^^xsd:string) AnnotationAssertion( "CIHL"^^xsd:string) AnnotationAssertion( "cisplatin-induced ototoxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hearing Loss, Cisplatin-Induced, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9004673"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Loss, Cisplatin-Induced"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-16T15:54:53Z"^^xsd:string) AnnotationAssertion( "MIM:PS617877"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004675"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Premature Infant Diseases) AnnotationAssertion(Annotation( "MESH:D007235"^^xsd:string) "Diseases that occur in PREMATURE INFANTS."^^xsd:string) AnnotationAssertion( "RDO:0001787"^^xsd:string) AnnotationAssertion( "MESH:D007235"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004676"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Infant Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Staghorn Calculi) AnnotationAssertion(Annotation( "MESH:D000069856"^^xsd:string) "Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE."^^xsd:string) AnnotationAssertion( "MESH:D000069856"^^xsd:string) AnnotationAssertion( "Staghorn Calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004678"^^xsd:string) AnnotationAssertion(rdfs:label "Staghorn Calculi"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation, X-Linked, Syndromic, Ube2a-Related) AnnotationAssertion( "MESH:C564069"^^xsd:string) AnnotationAssertion( "RDO:0013153"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004679"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, X-Linked, Syndromic, Ube2a-Related"^^xsd:string) SubClassOf( ) # Class: (perianal Crohn's disease) AnnotationAssertion(Annotation( "EFO:0005627"^^xsd:string) "This disease is a Crohn disease involving a pathogenic inflammatory response in the anal canal."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-20T18:07:02Z"^^xsd:string) AnnotationAssertion( "EFO:0005627"^^xsd:string) AnnotationAssertion( "perianal Crohn disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004680"^^xsd:string) AnnotationAssertion(rdfs:label "perianal Crohn's disease"^^xsd:string) SubClassOf( ) # Class: (Abdominal Hernia) AnnotationAssertion(Annotation( "MESH:D046449"^^xsd:string) "A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA."^^xsd:string) AnnotationAssertion( "MESH:D046449"^^xsd:string) AnnotationAssertion( "Abdominal Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004681"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Hernia"^^xsd:string) SubClassOf( ) # Class: (Hereditary Painful Callosities) AnnotationAssertion( "MIM:114140"^^xsd:string) AnnotationAssertion( "MESH:C566180"^^xsd:string) AnnotationAssertion( "painful plantar callosities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004682"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Painful Callosities"^^xsd:string) SubClassOf( ) # Class: (Enoplida Infections) AnnotationAssertion(Annotation( "MESH:D017189"^^xsd:string) "Infections with nematodes of the order ENOPLIDA."^^xsd:string) AnnotationAssertion( "EFO:0007253"^^xsd:string) AnnotationAssertion( "MESH:D017189"^^xsd:string) AnnotationAssertion( "RDO:0006740"^^xsd:string) AnnotationAssertion( "Dioctophyma renale Infection"^^xsd:string) AnnotationAssertion( "Dioctophyma renale Infections"^^xsd:string) AnnotationAssertion( "Enoplea infectious disease"^^xsd:string) AnnotationAssertion( "Enoplida Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004683"^^xsd:string) AnnotationAssertion(rdfs:label "Enoplida Infections"^^xsd:string) SubClassOf( ) # Class: (Monosomy) AnnotationAssertion(Annotation( "MESH:D009006"^^xsd:string) "The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1."^^xsd:string) AnnotationAssertion( "MESH:D009006"^^xsd:string) AnnotationAssertion( "Monosomies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004684"^^xsd:string) AnnotationAssertion(rdfs:label "Monosomy"^^xsd:string) SubClassOf( ) # Class: (Chromosome 4, 4q Terminal Deletion Syndrome) AnnotationAssertion( "MESH:C537641"^^xsd:string) AnnotationAssertion( "Chromosome 4, Deletion 4q31-qter Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 4, Deletion 4q32-qter Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 4, Deletion 4q33-qter Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 4, Partial Monosomy of Distal 4q"^^xsd:string) AnnotationAssertion( "Chromosome 4, monosomy distal 4q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004685"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, 4q Terminal Deletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Esophageal Diverticulum) AnnotationAssertion(Annotation( "MESH:D004936"^^xsd:string) "Saccular protrusion beyond the wall of the ESOPHAGUS."^^xsd:string) AnnotationAssertion( "MESH:D004936"^^xsd:string) AnnotationAssertion( "Esophageal Diverticula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004686"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Diverticulum"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Vein Stenosis) AnnotationAssertion(Annotation( "MESH:D000071078"^^xsd:string) "Narrowing of the PULMONARY VEIN."^^xsd:string) AnnotationAssertion( "MESH:D000071078"^^xsd:string) AnnotationAssertion( "Pulmonary Vein Stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004687"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Vein Stenosis"^^xsd:string) SubClassOf( ) # Class: (Morning Sickness) AnnotationAssertion(Annotation( "MESH:D048968"^^xsd:string) "Symptoms of NAUSEA and VOMITING in pregnant women that usually occur in the morning during the first 2 to 3 months of PREGNANCY. Severe persistent vomiting during pregnancy is called HYPEREMESIS GRAVIDARUM."^^xsd:string) AnnotationAssertion( "MESH:D048968"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004688"^^xsd:string) AnnotationAssertion(rdfs:label "Morning Sickness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multiple Epiphyseal Dysplasia with Myopathy) AnnotationAssertion( "RDO:0012680"^^xsd:string) AnnotationAssertion( "MESH:C563420"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004689"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Epiphyseal Dysplasia with Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Radiation-Induced Brain Neoplasms) AnnotationAssertion( "Brain tumors, cancer or neoplasms produced by exposure to ionizing or non-ionizing radiation."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-08-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "irradiation-associated brain tumor"^^xsd:string) AnnotationAssertion( "irradiation-induced secondary brain tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004691"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation-Induced Brain Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fused Teeth) AnnotationAssertion(Annotation( "MESH:D005671"^^xsd:string) "Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both."^^xsd:string) AnnotationAssertion( "MIM:147251"^^xsd:string) AnnotationAssertion( "MIM:273000"^^xsd:string) AnnotationAssertion( "MESH:D005671"^^xsd:string) AnnotationAssertion( "Double Tooth"^^xsd:string) AnnotationAssertion( "Fused Mandibular Incisor"^^xsd:string) AnnotationAssertion( "Fused Mandibular Incisors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004692"^^xsd:string) AnnotationAssertion(rdfs:label "Fused Teeth"^^xsd:string) SubClassOf( ) # Class: (ductal breast hyperplasia) AnnotationAssertion(Annotation( "EFO:0008500"^^xsd:string) "This is hyperplasia of the epithelial cells in the breast ducts. It includes the atypical ductal hyperplasia, papillary intraductal hyperplasia, intraductal myoepitheliosis, and ductal hyperplasia of the usual type."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-07T14:32:39Z"^^xsd:string) AnnotationAssertion( "EFO:0008500"^^xsd:string) AnnotationAssertion( "EFO:1000612"^^xsd:string) AnnotationAssertion( "ductal hyperplasia"^^xsd:string) AnnotationAssertion( "Usual Ductal Breast Hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004693"^^xsd:string) AnnotationAssertion(rdfs:label "ductal breast hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lambotte Syndrome) AnnotationAssertion( "MIM:245552"^^xsd:string) AnnotationAssertion( "MESH:C537549"^^xsd:string) AnnotationAssertion( "Microcephaly, holoprosencephaly, and intrauterine growth retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004694"^^xsd:string) AnnotationAssertion(rdfs:label "Lambotte Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Autism and Speech Delay) AnnotationAssertion( "A neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. Caused by heterozygous mutation in the TBR1 gene on chromosome 2q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-18T06:46:06Z"^^xsd:string) AnnotationAssertion( "MIM:606053"^^xsd:string) AnnotationAssertion( "IDDAS"^^xsd:string) AnnotationAssertion( "autism-related phrase speech delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AUTS5"^^xsd:string) AnnotationAssertion( "autism, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "DOID:9004695"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Autism and Speech Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neuromuscular Oculoauditory Syndrome) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-14T13:57:27Z"^^xsd:string) AnnotationAssertion( "MIM:618733"^^xsd:string) AnnotationAssertion( "NMOAS"^^xsd:string) AnnotationAssertion( "neuromuscular disease and ocular or auditory anomalies with or without seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004696"^^xsd:string) AnnotationAssertion(rdfs:label "Neuromuscular Oculoauditory Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Interferon Gamma, Receptor 1, Deficiency) AnnotationAssertion( "MESH:C535530"^^xsd:string) AnnotationAssertion( "NCI:C176806"^^xsd:string) AnnotationAssertion( "RDO:0000693"^^xsd:string) AnnotationAssertion( "Interferon Gamma Receptor Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004697"^^xsd:string) AnnotationAssertion(rdfs:label "Interferon Gamma, Receptor 1, Deficiency"^^xsd:string) SubClassOf( ) # Class: (Morbid Obesity and Spermatogenic Failure) AnnotationAssertion( "MIM:615703"^^xsd:string) AnnotationAssertion( "MOSPGF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004698"^^xsd:string) AnnotationAssertion(rdfs:label "Morbid Obesity and Spermatogenic Failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 12) AnnotationAssertion( "MIM:609995"^^xsd:string) AnnotationAssertion( "MESH:C566489"^^xsd:string) AnnotationAssertion( "MYOPIA 12, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004699"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 12"^^xsd:string) SubClassOf( ) # Class: (Uniparental Disomy of Chromosome 2) AnnotationAssertion( "MESH:C536470"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004700"^^xsd:string) AnnotationAssertion(rdfs:label "Uniparental Disomy of Chromosome 2"^^xsd:string) SubClassOf( ) # Class: (Human Herpesvirus 6 Encephalitis) AnnotationAssertion( "MESH:C538117"^^xsd:string) AnnotationAssertion( "RDO:0004051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004701"^^xsd:string) AnnotationAssertion(rdfs:label "Human Herpesvirus 6 Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D011248"^^xsd:string) "Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases."^^xsd:string) AnnotationAssertion( "EFO:0009682"^^xsd:string) AnnotationAssertion( "MESH:D011248"^^xsd:string) AnnotationAssertion( "Pregnancy Complication"^^xsd:string) AnnotationAssertion( "pregnancy disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004702"^^xsd:string) AnnotationAssertion(rdfs:label "Pregnancy Complications"^^xsd:string) SubClassOf( ) # Class: (Optic Atrophy Spastic Paraplegia Syndrome) AnnotationAssertion( "MIM:311100"^^xsd:string) AnnotationAssertion( "MESH:C564084"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004703"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy Spastic Paraplegia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pythiosis) AnnotationAssertion(Annotation( "MESH:D058968"^^xsd:string) "A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial."^^xsd:string) AnnotationAssertion( "EFO:1001410"^^xsd:string) AnnotationAssertion( "MESH:D058968"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004704"^^xsd:string) AnnotationAssertion(rdfs:label "Pythiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Olivopontocerebellar Atrophy 1) AnnotationAssertion( "MESH:C538626"^^xsd:string) AnnotationAssertion( "RDO:0004551"^^xsd:string) AnnotationAssertion( "Menzel type Olivopontocerebellar atrophy"^^xsd:string) AnnotationAssertion( "Olivopontocerebellar atrophy 4"^^xsd:string) AnnotationAssertion( "Schut-Haymaker type Olivopontocerebellar atrophy"^^xsd:string) AnnotationAssertion( "Spinocerebellar atrophy 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004705"^^xsd:string) AnnotationAssertion(rdfs:label "Olivopontocerebellar Atrophy 1"^^xsd:string) SubClassOf( ) # Class: (Cutis Laxa-Marfanoid Syndrome) AnnotationAssertion( "MIM:614100"^^xsd:string) AnnotationAssertion( "MESH:C563639"^^xsd:string) AnnotationAssertion( "Neonatal Cutis Laxa With Marfanoid Phenotype"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004706"^^xsd:string) AnnotationAssertion(rdfs:label "Cutis Laxa-Marfanoid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Massive Hepatic Necrosis) AnnotationAssertion(Annotation( "MESH:D047508"^^xsd:string) "Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called 'acute yellow atrophy'."^^xsd:string) AnnotationAssertion( "MESH:D047508"^^xsd:string) AnnotationAssertion( "RDO:0007544"^^xsd:string) AnnotationAssertion( "Acute Yellow Atrophies"^^xsd:string) AnnotationAssertion( "Acute Yellow Atrophy"^^xsd:string) AnnotationAssertion( "Acute Yellow Atrophy of Liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004707"^^xsd:string) AnnotationAssertion(rdfs:label "Massive Hepatic Necrosis"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 14) AnnotationAssertion( "MESH:C563964"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004708"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 14"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA) AnnotationAssertion(Annotation( "MIM:619005"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development with poor speech and language acquisition."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-15T13:20:59Z"^^xsd:string) AnnotationAssertion( "MADD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619005"^^xsd:string) AnnotationAssertion( "NEDDISH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004709"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alcohol-Induced Sudden Cardiac Failure) AnnotationAssertion( "PPA2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:617223"^^xsd:string) AnnotationAssertion( "SCFAI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004710"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol-Induced Sudden Cardiac Failure"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Osteosclerosis with Ichthyosis and Fractures) AnnotationAssertion( "MIM:166740"^^xsd:string) AnnotationAssertion( "MESH:C563483"^^xsd:string) AnnotationAssertion( "Cortical Thickening of Long Bones with Bowing and Ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004711"^^xsd:string) AnnotationAssertion(rdfs:label "Osteosclerosis with Ichthyosis and Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis) AnnotationAssertion(Annotation( "MIM:620374"^^xsd:string) "An autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. Caused by heterozygous mutation in the OXGR1 gene on chromosome 13q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T14:35:16Z"^^xsd:string) AnnotationAssertion( "MIM:620374"^^xsd:string) AnnotationAssertion( "CAON2"^^xsd:string) AnnotationAssertion( "calcium oxalate nephrolithiasis 2 with or without nephrocalcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004712"^^xsd:string) AnnotationAssertion(rdfs:label "Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis"^^xsd:string) SubClassOf( ) # Class: (Acute-Phase Reaction) AnnotationAssertion(Annotation( "MESH:D000210"^^xsd:string) "An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma."^^xsd:string) AnnotationAssertion( "MESH:D000210"^^xsd:string) AnnotationAssertion( "Acute Phase State"^^xsd:string) AnnotationAssertion( "Acute-Phase Response"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004713"^^xsd:string) AnnotationAssertion(rdfs:label "Acute-Phase Reaction"^^xsd:string) SubClassOf( ) # Class: (Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency) AnnotationAssertion( "MESH:C567033"^^xsd:string) AnnotationAssertion( "RDO:0015220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004714"^^xsd:string) AnnotationAssertion(rdfs:label "Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency"^^xsd:string) SubClassOf( ) # Class: (WHIM Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-13T09:56:11Z"^^xsd:string) AnnotationAssertion( "MIM:PS193670"^^xsd:string) AnnotationAssertion( "WHIM"^^xsd:string) AnnotationAssertion( "WHIMS"^^xsd:string) AnnotationAssertion( "warts, hypogammaglobulinemia, infections, and myelokathexis"^^xsd:string) AnnotationAssertion( "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome"^^xsd:string) AnnotationAssertion( "warts-hypogammaglobulinemia-infections-myelokathexis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004715"^^xsd:string) AnnotationAssertion(rdfs:label "WHIM Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vesicoureteral Reflux 3) AnnotationAssertion( "MIM:613674"^^xsd:string) AnnotationAssertion( "MONDO:0013356"^^xsd:string) AnnotationAssertion( "SOX17-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VUR3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004716"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 3"^^xsd:string) SubClassOf( ) # Class: (Post-Exercise Hypotension) AnnotationAssertion(Annotation( "MESH:D057774"^^xsd:string) "Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION."^^xsd:string) AnnotationAssertion( "EFO:1001828"^^xsd:string) AnnotationAssertion( "MESH:D057774"^^xsd:string) AnnotationAssertion( "Post Exercise Hypotensions"^^xsd:string) AnnotationAssertion( "Postexercise Hypotension"^^xsd:string) AnnotationAssertion( "Postexercise Hypotensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004717"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Exercise Hypotension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome 25) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618323"^^xsd:string) AnnotationAssertion( "CMS25"^^xsd:string) AnnotationAssertion( "presynaptic congenital myasthenic syndrome 25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004718"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome 25"^^xsd:string) SubClassOf( ) # Class: (Narcotic-Related Disorders) AnnotationAssertion(Annotation( "MESH:D000079524"^^xsd:string) "Disorders related to or resulting from abuse or misuse of NARCOTICS."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-06T18:17:46Z"^^xsd:string) AnnotationAssertion( "MESH:D000079524"^^xsd:string) AnnotationAssertion( "Narcotic Abuse"^^xsd:string) AnnotationAssertion( "Narcotic Addiction"^^xsd:string) AnnotationAssertion( "Narcotic Dependence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004719"^^xsd:string) AnnotationAssertion(rdfs:label "Narcotic-Related Disorders"^^xsd:string) SubClassOf( ) # Class: (Sensory Ataxia, Autosomal Dominant) AnnotationAssertion( "RDO:0012981"^^xsd:string) AnnotationAssertion( "MESH:C563818"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004720"^^xsd:string) AnnotationAssertion(rdfs:label "Sensory Ataxia, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT) AnnotationAssertion(Annotation( "MIM:618541"^^xsd:string) "A disease characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-08T18:24:55Z"^^xsd:string) AnnotationAssertion( "MIM:618541"^^xsd:string) AnnotationAssertion( "HOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004721"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly, Coloboma, and Anterior Segment Dysgenesis) AnnotationAssertion( "MIM:610023"^^xsd:string) AnnotationAssertion( "MESH:C566484"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004722"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly, Coloboma, and Anterior Segment Dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cattle Diseases) AnnotationAssertion(Annotation( "MESH:D002418"^^xsd:string) "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus."^^xsd:string) AnnotationAssertion( "MESH:D002418"^^xsd:string) AnnotationAssertion( "Bovine Disease"^^xsd:string) AnnotationAssertion( "Bovine Diseases"^^xsd:string) AnnotationAssertion( "Cattle Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004723"^^xsd:string) AnnotationAssertion(rdfs:label "Cattle Diseases"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism) AnnotationAssertion( "MIM:606242"^^xsd:string) AnnotationAssertion( "MESH:C565246"^^xsd:string) AnnotationAssertion( "Kondoh Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004724"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 9 Ring) AnnotationAssertion( "MESH:C538022"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004725"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9 Ring"^^xsd:string) SubClassOf( ) # Class: (Perrault Syndrome 4) AnnotationAssertion( "MIM:615300"^^xsd:string) AnnotationAssertion( "PRLTS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004726"^^xsd:string) AnnotationAssertion(rdfs:label "Perrault Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 12, Autosomal) AnnotationAssertion(Annotation( "MIM:619702"^^xsd:string) "An embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Caused by homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-27T10:38:16Z"^^xsd:string) AnnotationAssertion( "MIM:619702"^^xsd:string) AnnotationAssertion( "HTX12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004727"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 12, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Ichthyosis Exfoliativa) AnnotationAssertion( "MESH:C563978"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004728"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Exfoliativa"^^xsd:string) SubClassOf( ) # Class: (Nontuberculous Mycobacterium Infections) AnnotationAssertion(Annotation( "MESH:D009165"^^xsd:string) "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae."^^xsd:string) AnnotationAssertion( "EFO:1001498"^^xsd:string) AnnotationAssertion( "MESH:D009165"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Disseminated"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterial Infection, Familial Disseminated"^^xsd:string) AnnotationAssertion( "Atypical Mycobacteriosis, Familial Disseminated"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterium Infection"^^xsd:string) AnnotationAssertion( "Atypical Mycobacterium Infections"^^xsd:string) AnnotationAssertion( "Familial Atypical Mycobacterioses"^^xsd:string) AnnotationAssertion( "Familial Atypical Mycobacteriosis"^^xsd:string) AnnotationAssertion( "MSMD BCG Infection, Generalized Familial"^^xsd:string) AnnotationAssertion( "Nontuberculous Mycobacterium Infection"^^xsd:string) AnnotationAssertion( "disseminated atypical mycobacterial infection"^^xsd:string) AnnotationAssertion( "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Mycobacterial Disease, Mendelian Susceptibility To"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004729"^^xsd:string) AnnotationAssertion(rdfs:label "Nontuberculous Mycobacterium Infections"^^xsd:string) SubClassOf( ) # Class: (Romano-Ward Syndrome) AnnotationAssertion(Annotation( "MESH:D029597"^^xsd:string) "A form of long QT syndrome that is without congenital deafness."^^xsd:string) AnnotationAssertion( "MESH:D029597"^^xsd:string) AnnotationAssertion( "ORDO:101016"^^xsd:string) AnnotationAssertion( "RWS"^^xsd:string) AnnotationAssertion( "Ventricular Fibrillation with Prolonged QT Interval"^^xsd:string) AnnotationAssertion( "WRS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004730"^^xsd:string) AnnotationAssertion(rdfs:label "Romano-Ward Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Absence of the Sternocleidomastoid Muscle) AnnotationAssertion( "MESH:C535977"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004732"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Absence of the Sternocleidomastoid Muscle"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Deafness Syndrome) AnnotationAssertion( "MIM:156620"^^xsd:string) AnnotationAssertion( "MESH:C537326"^^xsd:string) AnnotationAssertion( "Kawashima-Tsuji syndrome"^^xsd:string) AnnotationAssertion( "Syndrome of microcephaly, deafness-malformed ears, mental retardation and peculiar facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004734"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Deafness Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Hypersomnolence) AnnotationAssertion(Annotation( "MESH:D020177"^^xsd:string) "A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)"^^xsd:string) AnnotationAssertion( "RDO:0007325"^^xsd:string) AnnotationAssertion( "MESH:D020177"^^xsd:string) AnnotationAssertion( "Idiopathic CNS Hypersomnolence"^^xsd:string) AnnotationAssertion( "Idiopathic CNS Hypersomnolences"^^xsd:string) AnnotationAssertion( "Idiopathic Central Nervous System Hypersomnolence"^^xsd:string) AnnotationAssertion( "Idiopathic Hypersomnia"^^xsd:string) AnnotationAssertion( "Idiopathic Hypersomnias"^^xsd:string) AnnotationAssertion( "Idiopathic Hypersomnolences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004735"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Hypersomnolence"^^xsd:string) SubClassOf( ) # Class: (Cole-Carpenter Syndrome 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616294"^^xsd:string) AnnotationAssertion( "CLCRP2"^^xsd:string) AnnotationAssertion( "SEC24D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004736"^^xsd:string) AnnotationAssertion(rdfs:label "Cole-Carpenter Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 82) AnnotationAssertion( "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. Caused by heterozygous mutation in the SYK gene on chromosome 9q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-23T11:23:04Z"^^xsd:string) AnnotationAssertion( "MIM:619381"^^xsd:string) AnnotationAssertion( "IMD82"^^xsd:string) AnnotationAssertion( "immunodeficiency 82 with systemic inflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004738"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 82"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cicatrix) AnnotationAssertion(Annotation( "MESH:D002921"^^xsd:string) "The fibrous tissue that replaces normal tissue during the process of WOUND HEALING."^^xsd:string) AnnotationAssertion( "EFO:0006346"^^xsd:string) AnnotationAssertion( "MESH:D002921"^^xsd:string) AnnotationAssertion( "RDO:0004747"^^xsd:string) AnnotationAssertion( "Cicatrization"^^xsd:string) AnnotationAssertion( "Scar"^^xsd:string) AnnotationAssertion( "Scarring"^^xsd:string) AnnotationAssertion( "Scars"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "severe cutaneous adverse reaction"^^xsd:string) AnnotationAssertion( "DOID:9004739"^^xsd:string) AnnotationAssertion(rdfs:label "Cicatrix"^^xsd:string) SubClassOf( ) # Class: (Cementoma) AnnotationAssertion(Annotation( "MESH:D002485"^^xsd:string) "An odontogenic fibroma in which cells have developed into cementoblasts and which consists largely of cementum."^^xsd:string) AnnotationAssertion( "MESH:D002485"^^xsd:string) AnnotationAssertion( "Cementomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004740"^^xsd:string) AnnotationAssertion(rdfs:label "Cementoma"^^xsd:string) SubClassOf( ) # Class: (Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia) AnnotationAssertion( "MIM:225050"^^xsd:string) AnnotationAssertion( "MESH:C565604"^^xsd:string) AnnotationAssertion( "Hedh Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004741"^^xsd:string) AnnotationAssertion(rdfs:label "Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acrodynia) AnnotationAssertion(Annotation( "MESH:D000170"^^xsd:string) "A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)"^^xsd:string) AnnotationAssertion( "EFO:1001756"^^xsd:string) AnnotationAssertion( "MESH:D000170"^^xsd:string) AnnotationAssertion( "Acrodynic Erythema"^^xsd:string) AnnotationAssertion( "Chronic Childhood Mercurialism"^^xsd:string) AnnotationAssertion( "Chronic Childhood Mercurialisms"^^xsd:string) AnnotationAssertion( "Feer Disease"^^xsd:string) AnnotationAssertion( "Feer's Disease"^^xsd:string) AnnotationAssertion( "Feers Disease"^^xsd:string) AnnotationAssertion( "Pink Disease"^^xsd:string) AnnotationAssertion( "Swift Disease"^^xsd:string) AnnotationAssertion( "Swift's Disease"^^xsd:string) AnnotationAssertion( "Swifts Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004742"^^xsd:string) AnnotationAssertion(rdfs:label "Acrodynia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurofaciodigitorenal Syndrome) AnnotationAssertion( "MIM:256690"^^xsd:string) AnnotationAssertion( "MESH:C537388"^^xsd:string) AnnotationAssertion( "Freire-Maia Pinheiro Opitz syndrome"^^xsd:string) AnnotationAssertion( "NFDR Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004743"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofaciodigitorenal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sleep Bruxism) AnnotationAssertion(Annotation( "MESH:D020186"^^xsd:string) "A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D020186"^^xsd:string) AnnotationAssertion( "Adult Sleep Bruxism"^^xsd:string) AnnotationAssertion( "Adult Sleep Bruxisms"^^xsd:string) AnnotationAssertion( "Childhood Sleep Bruxism"^^xsd:string) AnnotationAssertion( "Childhood Sleep Bruxisms"^^xsd:string) AnnotationAssertion( "Nocturnal Bruxism"^^xsd:string) AnnotationAssertion( "Nocturnal Bruxisms"^^xsd:string) AnnotationAssertion( "Nocturnal Teeth Grinding Disorder"^^xsd:string) AnnotationAssertion( "Sleep Bruxisms"^^xsd:string) AnnotationAssertion( "Sleep Related Bruxism"^^xsd:string) AnnotationAssertion( "Sleep-Related Bruxisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004744"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep Bruxism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES) AnnotationAssertion( "MIM:616079"^^xsd:string) AnnotationAssertion( "NCI:C168587"^^xsd:string) AnnotationAssertion( "ORDO:397758"^^xsd:string) AnnotationAssertion( "RDGCA"^^xsd:string) AnnotationAssertion( "Retinal dystrophy with inner nuclear layer and ganglion cell anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004745"^^xsd:string) AnnotationAssertion(rdfs:label "RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: (Spastic Diplegia Infantile Type) AnnotationAssertion( "MIM:270600"^^xsd:string) AnnotationAssertion( "MESH:C537481"^^xsd:string) AnnotationAssertion( "Hereditary spastic diplegia with mental retardation"^^xsd:string) AnnotationAssertion( "SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "SPASTIC DIPLEGIA AND MENTAL RETARDATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004746"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Diplegia Infantile Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Milk Sickness) AnnotationAssertion(Annotation( "MESH:D018602"^^xsd:string) "An acute, often fatal disease caused by the ingestion of milk, milk products, or the flesh of cattle or sheep which have a disease known as trembles. It is marked by weakness, anorexia, vomiting, constipation, and sometimes muscular tremors. It is caused by poisoning by white snakeroot (Eupatorium rugosum) and the rayless goldenrod (Haplopappus heterophyllus). (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018602"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004747"^^xsd:string) AnnotationAssertion(rdfs:label "Milk Sickness"^^xsd:string) SubClassOf( ) # Class: (Hennekam Lymphangiectasia-Lymphedema Syndrome 3) AnnotationAssertion(Annotation( "MIM:618154"^^xsd:string) "HKLLS3 is a disease characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 is caused by homozygous or compound heterozygous mutation in the ADAMTS3 gene on chromosome 4q13. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T17:16:42Z"^^xsd:string) AnnotationAssertion( "MIM:618154"^^xsd:string) AnnotationAssertion( "HKLLS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004748"^^xsd:string) AnnotationAssertion(rdfs:label "Hennekam Lymphangiectasia-Lymphedema Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Omphalocele, Cleft Palate Syndrome Lethal) AnnotationAssertion( "MIM:258320"^^xsd:string) AnnotationAssertion( "MESH:C537747"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004749"^^xsd:string) AnnotationAssertion(rdfs:label "Omphalocele, Cleft Palate Syndrome Lethal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia with Elevated Serum Iga and Renal Disease) AnnotationAssertion( "MIM:314000"^^xsd:string) AnnotationAssertion( "MESH:C564051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004750"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia with Elevated Serum Iga and Renal Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nausea) AnnotationAssertion(Annotation( "MESH:D009325"^^xsd:string) "An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses."^^xsd:string) AnnotationAssertion( "MESH:D009325"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004751"^^xsd:string) AnnotationAssertion(rdfs:label "Nausea"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Obesity Hypoventilation Syndrome) AnnotationAssertion(Annotation( "MESH:D010845"^^xsd:string) "HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately."^^xsd:string) AnnotationAssertion( "MIM:257500"^^xsd:string) AnnotationAssertion( "EFO:1001382"^^xsd:string) AnnotationAssertion( "MESH:D010845"^^xsd:string) AnnotationAssertion( "Pickwickian Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004753"^^xsd:string) AnnotationAssertion(rdfs:label "Obesity Hypoventilation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia) AnnotationAssertion( "MIM:608509"^^xsd:string) AnnotationAssertion( "MESH:C563920"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004754"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemophilic Arthropathy) AnnotationAssertion( "Joint degeneration following recurrent bleeding episodes in patients with severe hemophilia."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000388"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004755"^^xsd:string) AnnotationAssertion(rdfs:label "Hemophilic Arthropathy"^^xsd:string) SubClassOf( ) # Class: (Brain Hypoxia) AnnotationAssertion(Annotation( "MESH:D002534"^^xsd:string) "A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives."^^xsd:string) AnnotationAssertion( "EFO:1001766"^^xsd:string) AnnotationAssertion( "MESH:D002534"^^xsd:string) AnnotationAssertion( "Anoxic Brain Damage"^^xsd:string) AnnotationAssertion( "Anoxic Encephalopathies"^^xsd:string) AnnotationAssertion( "Anoxic Encephalopathy"^^xsd:string) AnnotationAssertion( "Brain Anoxia"^^xsd:string) AnnotationAssertion( "Cerebral Anoxia"^^xsd:string) AnnotationAssertion( "Cerebral Hypoxia"^^xsd:string) AnnotationAssertion( "Hypoxic Brain Damage"^^xsd:string) AnnotationAssertion( "Hypoxic Encephalopathies"^^xsd:string) AnnotationAssertion( "Hypoxic Encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004756"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Hypoxia"^^xsd:string) SubClassOf( ) # Class: (Axial Myopathy, Late-Onset) AnnotationAssertion( "A non-specific myopathic disease, restricted to para-spinal musculature."^^xsd:string) AnnotationAssertion( "RDO:9000336"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004757"^^xsd:string) AnnotationAssertion(rdfs:label "Axial Myopathy, Late-Onset"^^xsd:string) SubClassOf( ) # Class: (Brain-Lung-Thyroid Syndrome) AnnotationAssertion( "MIM:610978"^^xsd:string) AnnotationAssertion( "MESH:C567034"^^xsd:string) AnnotationAssertion( "NCI:C202546"^^xsd:string) AnnotationAssertion( "CAHTP"^^xsd:string) AnnotationAssertion( "choreoathetosis and congenital hypothyroidism"^^xsd:string) AnnotationAssertion( "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"^^xsd:string) AnnotationAssertion( "choreoathetosis, hypothyroidism, and neonatal respiratory distress"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004758"^^xsd:string) AnnotationAssertion(rdfs:label "Brain-Lung-Thyroid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Actinic Keratosis) AnnotationAssertion( "MIM:148390"^^xsd:string) AnnotationAssertion( "MESH:C567190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004759"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Actinic Keratosis"^^xsd:string) SubClassOf( ) # Class: (Paroxysmal Dyspnea) AnnotationAssertion(Annotation( "MESH:D004418"^^xsd:string) "A disorder characterized by sudden attacks of respiratory distress in at rest patients with HEART FAILURE and PULMONARY EDEMA. It usually occurs at night after several hours of sleep in a reclining position. Patients awaken with a feeling of suffocation, coughing, a cold sweat, and TACHYCARDIA. When there is significant WHEEZING, it is called cardiac asthma."^^xsd:string) AnnotationAssertion( "RDO:0005420"^^xsd:string) AnnotationAssertion( "MESH:D004418"^^xsd:string) AnnotationAssertion( "Asthma, Cardiac"^^xsd:string) AnnotationAssertion( "Dyspnea, Paroxysmal Nocturnal"^^xsd:string) AnnotationAssertion( "Paroxysmal Dyspneas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9004760"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Dyspnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Artificial Lens Implant Migration) AnnotationAssertion(Annotation( "MESH:D060437"^^xsd:string) "The shifting and or tilting of implanted artificial lens resulting in impaired vision."^^xsd:string) AnnotationAssertion( "MESH:D060437"^^xsd:string) AnnotationAssertion( "RDO:0010037"^^xsd:string) AnnotationAssertion( "Artificial Intra ocular Implant Dislocation"^^xsd:string) AnnotationAssertion( "Artificial Lens Implant Dislocation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004761"^^xsd:string) AnnotationAssertion(rdfs:label "Artificial Lens Implant Migration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 8) AnnotationAssertion( "MIM:613055"^^xsd:string) AnnotationAssertion( "MESH:C567802"^^xsd:string) AnnotationAssertion( "ATFB8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004762"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 8"^^xsd:string) SubClassOf( ) # Class: (Trauma and Stressor Related Disorders) AnnotationAssertion(Annotation( "MESH:D000068099"^^xsd:string) "Disorders in which exposure to a traumatic or stressful event is explicitly a diagnostic criterion."^^xsd:string) AnnotationAssertion( "EFO:0005250"^^xsd:string) AnnotationAssertion( "MESH:D000068099"^^xsd:string) AnnotationAssertion( "occupation-related stress disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004763"^^xsd:string) AnnotationAssertion(rdfs:label "Trauma and Stressor Related Disorders"^^xsd:string) SubClassOf( ) # Class: (Lithiasis) AnnotationAssertion(Annotation( "MESH:D020347"^^xsd:string) "A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract."^^xsd:string) AnnotationAssertion( "MESH:D020347"^^xsd:string) AnnotationAssertion( "Calculoses"^^xsd:string) AnnotationAssertion( "Calculosis"^^xsd:string) AnnotationAssertion( "Lithiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004764"^^xsd:string) AnnotationAssertion(rdfs:label "Lithiasis"^^xsd:string) SubClassOf( ) # Class: (Cardioacrofacial Dysplasia 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T17:02:20Z"^^xsd:string) AnnotationAssertion( "MIM:619142"^^xsd:string) AnnotationAssertion( "CAFD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004765"^^xsd:string) AnnotationAssertion(rdfs:label "Cardioacrofacial Dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Familial Hemophagocytic Lymphohistiocytosis 6) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-02T13:40:07Z"^^xsd:string) AnnotationAssertion( "MIM:618998"^^xsd:string) AnnotationAssertion( "FHL6"^^xsd:string) AnnotationAssertion( "IMDYSHI"^^xsd:string) AnnotationAssertion( "Immune dysregulation and systemic hyperinflammation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004766"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hemophagocytic Lymphohistiocytosis 6"^^xsd:string) SubClassOf( ) # Class: (Acute Stress Disorders, Traumatic) AnnotationAssertion(Annotation( "MESH:D040701"^^xsd:string) "A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder (STRESS DISORDERS, POST-TRAUMATIC) is more appropriate."^^xsd:string) AnnotationAssertion( "MESH:D040701"^^xsd:string) AnnotationAssertion( "acute stress disorder"^^xsd:string) AnnotationAssertion( "acute stress disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004767"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Stress Disorders, Traumatic"^^xsd:string) SubClassOf( ) # Class: (Carey-Fineman-Ziter Syndrome 2) AnnotationAssertion(Annotation( "MIM:619941"^^xsd:string) "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Caused by homozygous mutation in MYMX gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-01T12:25:30Z"^^xsd:string) AnnotationAssertion( "MIM:619941"^^xsd:string) AnnotationAssertion( "CFZS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004768"^^xsd:string) AnnotationAssertion(rdfs:label "Carey-Fineman-Ziter Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Broad-Betalipoproteinemia) AnnotationAssertion( "MESH:C566264"^^xsd:string) AnnotationAssertion( "broad beta disease"^^xsd:string) AnnotationAssertion( "broad-beta hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004769"^^xsd:string) AnnotationAssertion(rdfs:label "Broad-Betalipoproteinemia"^^xsd:string) SubClassOf( ) # Class: (Preaxial Hallucal Polydactyly) AnnotationAssertion( "MIM:601759"^^xsd:string) AnnotationAssertion( "MESH:C566632"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004770"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Hallucal Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Vascular Remodeling) AnnotationAssertion(Annotation( "MESH:D066253"^^xsd:string) "The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS."^^xsd:string) AnnotationAssertion( "MESH:D066253"^^xsd:string) AnnotationAssertion( "Pulmonary Arterial Remodeling"^^xsd:string) AnnotationAssertion( "Pulmonary Arterial Remodelings"^^xsd:string) AnnotationAssertion( "Vascular Remodelings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004771"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Remodeling"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Microcephaly, Epilepsy, and Coarse Face) AnnotationAssertion( "MIM:601352"^^xsd:string) AnnotationAssertion( "MESH:C563342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004772"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Microcephaly, Epilepsy, and Coarse Face"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Genu Valgum, St Helena Familial) AnnotationAssertion( "MIM:137370"^^xsd:string) AnnotationAssertion( "MESH:C537685"^^xsd:string) AnnotationAssertion( "Hereditary pubertal genu valgum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004773"^^xsd:string) AnnotationAssertion(rdfs:label "Genu Valgum, St Helena Familial"^^xsd:string) SubClassOf( ) # Class: (Hyperphosphatemia, Polyuria, and Seizures) AnnotationAssertion( "MIM:239350"^^xsd:string) AnnotationAssertion( "MESH:C565494"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004774"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphosphatemia, Polyuria, and Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichoepitheliomas, Multiple Desmoplastic) AnnotationAssertion( "MIM:190345"^^xsd:string) AnnotationAssertion( "MESH:C566034"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004775"^^xsd:string) AnnotationAssertion(rdfs:label "Trichoepitheliomas, Multiple Desmoplastic"^^xsd:string) SubClassOf( ) # Class: (Ectopia Pupillae) AnnotationAssertion( "A congenital eye malformation in which the pupils are displaced from their normal central position. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:129750"^^xsd:string) AnnotationAssertion( "MESH:C536185"^^xsd:string) AnnotationAssertion( "ectopic pupil"^^xsd:string) AnnotationAssertion( "ectopic pupils"^^xsd:string) AnnotationAssertion( "familial ectopic pupil"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004776"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopia Pupillae"^^xsd:string) SubClassOf( ) # Class: (Mediastinal Emphysema) AnnotationAssertion(Annotation( "MESH:D008478"^^xsd:string) "Presence of air in the mediastinal tissues due to leakage of air from the tracheobronchial tree, usually as a result of trauma."^^xsd:string) AnnotationAssertion( "MESH:D008478"^^xsd:string) AnnotationAssertion( "Mediastinal Emphysemas"^^xsd:string) AnnotationAssertion( "Pneumomediastinum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004777"^^xsd:string) AnnotationAssertion(rdfs:label "Mediastinal Emphysema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Exostoses with Anetodermia and Brachydactyly Type E) AnnotationAssertion( "MIM:133690"^^xsd:string) AnnotationAssertion( "MESH:C565034"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004778"^^xsd:string) AnnotationAssertion(rdfs:label "Exostoses with Anetodermia and Brachydactyly Type E"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autoimmune Lymphoproliferative Syndrome, Type IB) AnnotationAssertion( "MESH:C566614"^^xsd:string) AnnotationAssertion( "ALPS1B"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative syndrome, type 1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004779"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Lymphoproliferative Syndrome, Type IB"^^xsd:string) SubClassOf( ) # Class: (Carcinoma, Krebs 2) AnnotationAssertion(Annotation( "MESH:D002287"^^xsd:string) "A transplantable neoplasm of mice."^^xsd:string) AnnotationAssertion( "EFO:1001007"^^xsd:string) AnnotationAssertion( "MESH:D002287"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004780"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinoma, Krebs 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Ptosis, Hereditary 1) AnnotationAssertion( "MIM:178300"^^xsd:string) AnnotationAssertion( "RDO:0015006"^^xsd:string) AnnotationAssertion( "MESH:C566737"^^xsd:string) AnnotationAssertion( "PTOS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004781"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Ptosis, Hereditary 1"^^xsd:string) SubClassOf( ) # Class: (Levator-Medial Rectus Synkinesis) AnnotationAssertion( "MIM:151610"^^xsd:string) AnnotationAssertion( "MESH:C563625"^^xsd:string) AnnotationAssertion( "OCLEVS"^^xsd:string) AnnotationAssertion( "Oculomotor-Levator Synkinesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004782"^^xsd:string) AnnotationAssertion(rdfs:label "Levator-Medial Rectus Synkinesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Transient Neonatal Diabetes Mellitus, 1) AnnotationAssertion( "TNDM1 is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. (OMIM)"^^xsd:string) AnnotationAssertion( "MESH:C579872"^^xsd:string) AnnotationAssertion( "MIM:601410"^^xsd:string) AnnotationAssertion( "MESH:C563322"^^xsd:string) AnnotationAssertion( "6q24-Related Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "6q24-Tndm"^^xsd:string) AnnotationAssertion( "6q24-related transient neonatal diabetes mellitus"^^xsd:string) AnnotationAssertion( "TNDM type 1"^^xsd:string) AnnotationAssertion( "TNDM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004783"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Diabetes Mellitus, 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant) AnnotationAssertion( "MESH:C563305"^^xsd:string) AnnotationAssertion( "RDO:0012602"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004785"^^xsd:string) AnnotationAssertion(rdfs:label "Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Carbon Tetrachloride Poisoning) AnnotationAssertion(Annotation( "MESH:D002252"^^xsd:string) "Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE."^^xsd:string) AnnotationAssertion( "MESH:D002252"^^xsd:string) AnnotationAssertion( "RDO:0005108"^^xsd:string) AnnotationAssertion( "CCl4 Poisoning"^^xsd:string) AnnotationAssertion( "CCl4 Poisonings"^^xsd:string) AnnotationAssertion( "Carbon Tetrachloride Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004786"^^xsd:string) AnnotationAssertion(rdfs:label "Carbon Tetrachloride Poisoning"^^xsd:string) SubClassOf( ) # Class: (Familial Horizontal Gaze Palsy with Progressive Scoliosis) AnnotationAssertion( "MESH:C564593"^^xsd:string) AnnotationAssertion( "MIM:PS607313"^^xsd:string) AnnotationAssertion( "Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy"^^xsd:string) AnnotationAssertion( "Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze"^^xsd:string) AnnotationAssertion( "Hgpps"^^xsd:string) AnnotationAssertion( "Horizontal Gaze Palsy with Progressive Scoliosis"^^xsd:string) AnnotationAssertion( "HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS"^^xsd:string) AnnotationAssertion( "OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004787"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Horizontal Gaze Palsy with Progressive Scoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Extranodal Extension) AnnotationAssertion(Annotation( "MESH:D000079822"^^xsd:string) "A penetration of LYMPH NODE metastatic cells through the nodal capsule into the perinodal fatty tissue used in a TUMOR STAGING system (the TNM staging system)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-06T17:14:10Z"^^xsd:string) AnnotationAssertion( "MESH:D000079822"^^xsd:string) AnnotationAssertion( "Extracapsular Extension"^^xsd:string) AnnotationAssertion( "Extranodal Tumor Deposits"^^xsd:string) AnnotationAssertion( "Tumor Deposit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004789"^^xsd:string) AnnotationAssertion(rdfs:label "Extranodal Extension"^^xsd:string) SubClassOf( ) # Class: (Short Stature and Locking Fingers) AnnotationAssertion( "MESH:C537603"^^xsd:string) AnnotationAssertion( "RDO:0003473"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004790"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature and Locking Fingers"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stapes Ankylosis with Broad Thumbs and Toes) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-06T10:07:31Z"^^xsd:string) AnnotationAssertion( "MIM:184460"^^xsd:string) AnnotationAssertion( "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY"^^xsd:string) AnnotationAssertion( "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY TEUNISSEN-CREMERS SYNDROME STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM"^^xsd:string) AnnotationAssertion( "TEUNISSEN-CREMERS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004791"^^xsd:string) AnnotationAssertion(rdfs:label "Stapes Ankylosis with Broad Thumbs and Toes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Mixed Cryoglobulinemia) AnnotationAssertion( "MIM:123550"^^xsd:string) AnnotationAssertion( "MESH:C565141"^^xsd:string) AnnotationAssertion( "Meltzer Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004792"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Mixed Cryoglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly, Intraventricular Septal Defect, and Deafness) AnnotationAssertion( "MIM:602561"^^xsd:string) AnnotationAssertion( "MESH:C566521"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004793"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly, Intraventricular Septal Defect, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Granuloma, Plasma Cell) AnnotationAssertion(Annotation( "MESH:D006104"^^xsd:string) "A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells."^^xsd:string) AnnotationAssertion( "MESH:D006104"^^xsd:string) AnnotationAssertion( "RDO:0005701"^^xsd:string) AnnotationAssertion( "Inflammatory Pseudotumor"^^xsd:string) AnnotationAssertion( "Inflammatory Pseudotumors"^^xsd:string) AnnotationAssertion( "Plasma Cell Granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004794"^^xsd:string) AnnotationAssertion(rdfs:label "Granuloma, Plasma Cell"^^xsd:string) SubClassOf( ) # Class: (Congenital Hand Deformities) AnnotationAssertion(Annotation( "MESH:D006228"^^xsd:string) "Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth."^^xsd:string) AnnotationAssertion( "MESH:D006228"^^xsd:string) AnnotationAssertion( "Congenital Hand Deformity"^^xsd:string) AnnotationAssertion( "HAND OLIGODACTYLY"^^xsd:string) AnnotationAssertion( "OLIGODACTYLY (HANDS)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004795"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hand Deformities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Static Ophthalmoplegia) AnnotationAssertion( "MIM:165000"^^xsd:string) AnnotationAssertion( "MESH:C563500"^^xsd:string) AnnotationAssertion( "congenital hereditary nonprogressive external ophthalmoplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004796"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Static Ophthalmoplegia"^^xsd:string) SubClassOf( ) # Class: (Fetal Nutrition Disorders) AnnotationAssertion(Annotation( "MESH:D048070"^^xsd:string) "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero."^^xsd:string) AnnotationAssertion( "MESH:D048070"^^xsd:string) AnnotationAssertion( "Fetal Malnutrition"^^xsd:string) AnnotationAssertion( "Fetal Nutrition Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004797"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Nutrition Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Drug Resistant Epilepsy) AnnotationAssertion(Annotation( "MESH:D000069279"^^xsd:string) "Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed."^^xsd:string) AnnotationAssertion( "MESH:D000069279"^^xsd:string) AnnotationAssertion( "RDO:0016011"^^xsd:string) AnnotationAssertion( "Drug Refractory Epilepsies"^^xsd:string) AnnotationAssertion( "Drug Refractory Epilepsy"^^xsd:string) AnnotationAssertion( "Drug Resistant Epilepsies"^^xsd:string) AnnotationAssertion( "Intractable Epilepsies"^^xsd:string) AnnotationAssertion( "Intractable Epilepsy"^^xsd:string) AnnotationAssertion( "Medication Resistant Epilepsies"^^xsd:string) AnnotationAssertion( "Medication Resistant Epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004798"^^xsd:string) AnnotationAssertion(rdfs:label "Drug Resistant Epilepsy"^^xsd:string) SubClassOf( ) # Class: (KURY-ISIDOR SYNDROME) AnnotationAssertion(Annotation( "MIM:619762"^^xsd:string) "This disease is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay. Most patients have behavioral problems, including autism."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-21T12:47:56Z"^^xsd:string) AnnotationAssertion( "MIM:619762"^^xsd:string) AnnotationAssertion( "KURIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004799"^^xsd:string) AnnotationAssertion(rdfs:label "KURY-ISIDOR SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Uveal Effusion Syndrome) AnnotationAssertion(Annotation( "MESH:D000080323"^^xsd:string) "Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T14:29:30Z"^^xsd:string) AnnotationAssertion( "MESH:D000080323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004800"^^xsd:string) AnnotationAssertion(rdfs:label "Uveal Effusion Syndrome"^^xsd:string) SubClassOf( ) # Class: (Circumvallate Placenta Syndrome) AnnotationAssertion( "MIM:215550"^^xsd:string) AnnotationAssertion( "MESH:C565847"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004801"^^xsd:string) AnnotationAssertion(rdfs:label "Circumvallate Placenta Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type) AnnotationAssertion( "MESH:C566751"^^xsd:string) AnnotationAssertion( "Hypocholinesterasemia, Fluoride-Resistant, Japanese Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004802"^^xsd:string) AnnotationAssertion(rdfs:label "Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 6, Monosomy 6q) AnnotationAssertion( "GARD:3760"^^xsd:string) AnnotationAssertion( "MESH:C537807"^^xsd:string) AnnotationAssertion( "MONDO:0016905"^^xsd:string) AnnotationAssertion( "ORDO:262047"^^xsd:string) AnnotationAssertion( "Chromosome 6q deletion"^^xsd:string) AnnotationAssertion( "Deletion 6q"^^xsd:string) AnnotationAssertion( "Monosomy 6q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004804"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Monosomy 6q"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Parasitic Infections) AnnotationAssertion(Annotation( "MESH:D020807"^^xsd:string) "Infections of the brain, spinal cord, and meninges caused by parasites."^^xsd:string) AnnotationAssertion( "MESH:D020807"^^xsd:string) AnnotationAssertion( "RDO:0007434"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004805"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Parasitic Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thanatophoric Dysplasia, Type II) AnnotationAssertion( "MIM:187601"^^xsd:string) AnnotationAssertion( "MESH:C536508"^^xsd:string) AnnotationAssertion( "TD2"^^xsd:string) AnnotationAssertion( "Thanatophoric Dysplasia, Type 2"^^xsd:string) AnnotationAssertion( "Thanatophoric dysplasia with Kleeblattschaedel"^^xsd:string) AnnotationAssertion( "cloverleaf skull with thanatophoric dwarfism"^^xsd:string) AnnotationAssertion( "thanatophoric dysplasia with straight femurs and cloverleaf skull"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004806"^^xsd:string) AnnotationAssertion(rdfs:label "Thanatophoric Dysplasia, Type II"^^xsd:string) SubClassOf( ) # Class: (Catatonic Schizophrenia) AnnotationAssertion(Annotation( "MESH:D012560"^^xsd:string) "A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture."^^xsd:string) AnnotationAssertion( "MESH:D012560"^^xsd:string) AnnotationAssertion( "Catatonic Schizophrenias"^^xsd:string) AnnotationAssertion( "periodic catatonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004807"^^xsd:string) AnnotationAssertion(rdfs:label "Catatonic Schizophrenia"^^xsd:string) SubClassOf( ) # Class: (Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV) AnnotationAssertion( "MIM:600384"^^xsd:string) AnnotationAssertion( "MESH:C563942"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004808"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cartilage Hair Hypoplasia Like Syndrome) AnnotationAssertion( "MESH:C535915"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004809"^^xsd:string) AnnotationAssertion(rdfs:label "Cartilage Hair Hypoplasia Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurocysticercosis) AnnotationAssertion(Annotation( "MESH:D020019"^^xsd:string) "Infection of the brain, spinal cord, or perimeningeal structures with the larval forms of the genus TAENIA (primarily T. solium in humans). Lesions formed by the organism are referred to as cysticerci. The infection may be subacute or chronic, and the severity of symptoms depends on the severity of the host immune response and the location and number of lesions. SEIZURES represent the most common clinical manifestation although focal neurologic deficits may occur. (From Joynt, Clinical Neurology, 1998, Ch27, pp46-50)"^^xsd:string) AnnotationAssertion( "MESH:D020019"^^xsd:string) AnnotationAssertion( "Central Nervous System Cysticercosis"^^xsd:string) AnnotationAssertion( "brain cysticercosis"^^xsd:string) AnnotationAssertion( "neurocysticercoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004810"^^xsd:string) AnnotationAssertion(rdfs:label "Neurocysticercosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vascular Hyalinosis) AnnotationAssertion( "MIM:277175"^^xsd:string) AnnotationAssertion( "MESH:C564750"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004811"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Hyalinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Juvenile Systemic Scleroderma) AnnotationAssertion( "MESH:C537703"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004812"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Systemic Scleroderma"^^xsd:string) SubClassOf( ) # Class: (Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia) AnnotationAssertion( "MIM:604380"^^xsd:string) AnnotationAssertion( "MESH:C565783"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004813"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Aberrations) AnnotationAssertion(Annotation( "MESH:D002869"^^xsd:string) "Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS."^^xsd:string) AnnotationAssertion( "EFO:0000336"^^xsd:string) AnnotationAssertion( "MESH:D002869"^^xsd:string) AnnotationAssertion( "Autosome Abnormalities"^^xsd:string) AnnotationAssertion( "Autosome Abnormality"^^xsd:string) AnnotationAssertion( "Chromosomal Aberration"^^xsd:string) AnnotationAssertion( "Chromosomal Aberrations"^^xsd:string) AnnotationAssertion( "Chromosomal Abnormalities"^^xsd:string) AnnotationAssertion( "Chromosomal Abnormality"^^xsd:string) AnnotationAssertion( "Chromosome Aberration"^^xsd:string) AnnotationAssertion( "Chromosome Abnormalities"^^xsd:string) AnnotationAssertion( "Chromosome Abnormality"^^xsd:string) AnnotationAssertion( "Cytogenetic Aberration"^^xsd:string) AnnotationAssertion( "Cytogenetic Aberrations"^^xsd:string) AnnotationAssertion( "Cytogenetic Abnormalities"^^xsd:string) AnnotationAssertion( "Cytogenetic Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004814"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Aberrations"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Jaw Cysts) AnnotationAssertion(Annotation( "MESH:D007570"^^xsd:string) "Saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also nonepithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst. True jaw cysts are classified as odontogenic or nonodontogenic."^^xsd:string) AnnotationAssertion( "MESH:D007570"^^xsd:string) AnnotationAssertion( "Jaw Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004816"^^xsd:string) AnnotationAssertion(rdfs:label "Jaw Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypophysitis) AnnotationAssertion(Annotation( "MESH:D000072659"^^xsd:string) "Inflammation of the PITUITARY GLAND."^^xsd:string) AnnotationAssertion( "MESH:D000072659"^^xsd:string) AnnotationAssertion( "Hypophysitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004817"^^xsd:string) AnnotationAssertion(rdfs:label "Hypophysitis"^^xsd:string) SubClassOf( ) # Class: (Zinc, Elevated Plasma) AnnotationAssertion( "MIM:194470"^^xsd:string) AnnotationAssertion( "RDO:0008207"^^xsd:string) AnnotationAssertion( "ALBUMIN BINDING OF ZINC, ELEVATED"^^xsd:string) AnnotationAssertion( "HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004818"^^xsd:string) AnnotationAssertion(rdfs:label "Zinc, Elevated Plasma"^^xsd:string) SubClassOf( ) # Class: (Juvenile Paralysis Agitans of Hunt) AnnotationAssertion( "MIM:168100"^^xsd:string) AnnotationAssertion( "RDO:0012184"^^xsd:string) AnnotationAssertion( "MESH:C562469"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Juvenile, Of Hunt"^^xsd:string) AnnotationAssertion( "Parkinson's Disease, Juvenile, Of Hunt"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004819"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Paralysis Agitans of Hunt"^^xsd:string) SubClassOf( ) # Class: (Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to) AnnotationAssertion( "MIM:266120"^^xsd:string) AnnotationAssertion( "MESH:C564859"^^xsd:string) AnnotationAssertion( "RDO:0013679"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to P5N Deficiency"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to UMPH1 Deficiency"^^xsd:string) AnnotationAssertion( "P5N DEFICIENCY"^^xsd:string) AnnotationAssertion( "Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia due to"^^xsd:string) AnnotationAssertion( "UMPH1 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004820"^^xsd:string) AnnotationAssertion(rdfs:label "Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to"^^xsd:string) SubClassOf( ) # Class: (Fibrous Sheath Dysplasia) AnnotationAssertion( "RDO:9000727"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004821"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrous Sheath Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Hypertrichosis Congenital Generalized X-Linked) AnnotationAssertion( "MIM:307150"^^xsd:string) AnnotationAssertion( "RDO:0004364"^^xsd:string) AnnotationAssertion( "congenital generalized hypertrichosis"^^xsd:string) AnnotationAssertion( "MESH:C538388"^^xsd:string) AnnotationAssertion( "CGH"^^xsd:string) AnnotationAssertion( "CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME"^^xsd:string) AnnotationAssertion( "HCG"^^xsd:string) AnnotationAssertion( "HTC2"^^xsd:string) AnnotationAssertion( "Macias-Flores Garcia-Cruz Rivera syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004822"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrichosis Congenital Generalized X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brown Oculocutaneous Albinism) AnnotationAssertion( "MESH:C562662"^^xsd:string) AnnotationAssertion( "RDO:0012278"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004823"^^xsd:string) AnnotationAssertion(rdfs:label "Brown Oculocutaneous Albinism"^^xsd:string) SubClassOf( ) # Class: (Pseudohypoparathyroidism Type II) AnnotationAssertion( "MIM:203330"^^xsd:string) AnnotationAssertion( "RDO:0004657"^^xsd:string) AnnotationAssertion( "MESH:C548077"^^xsd:string) AnnotationAssertion( "PHP II"^^xsd:string) AnnotationAssertion( "PHP2"^^xsd:string) AnnotationAssertion( "Pseudohypoparathyroidism Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004824"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoparathyroidism Type II"^^xsd:string) SubClassOf( ) # Class: (Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal) AnnotationAssertion( "MIM:602613"^^xsd:string) AnnotationAssertion( "MESH:C566514"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004825"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Benign Familial Macrocephaly) AnnotationAssertion( "MIM:153470"^^xsd:string) AnnotationAssertion( "MESH:C537717"^^xsd:string) AnnotationAssertion( "Benign familial megalencephaly"^^xsd:string) AnnotationAssertion( "Cole-Hughes syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004826"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Macrocephaly"^^xsd:string) SubClassOf( ) # Class: (Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts) AnnotationAssertion( "MIM:600176"^^xsd:string) AnnotationAssertion( "MESH:C538091"^^xsd:string) AnnotationAssertion( "Kuzniecky Syndrome"^^xsd:string) AnnotationAssertion( "pachygyria with impaired intellectual development, seizures, and arachnoid cysts"^^xsd:string) AnnotationAssertion( "pachygyria with mental retardation and seizures"^^xsd:string) AnnotationAssertion( "pachygyria, mental retardation and epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004827"^^xsd:string) AnnotationAssertion(rdfs:label "Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tooth Migration) AnnotationAssertion(Annotation( "MESH:D014085"^^xsd:string) "The movement of teeth into altered positions in relationship to the basal bone of the ALVEOLAR PROCESS and to adjoining and opposing teeth as a result of loss of approximating or opposing teeth, occlusal interferences, habits, inflammatory and dystrophic disease of the attaching and supporting structures of the teeth. (From Boucher's Clinical Dental Terminology, 4th ed)"^^xsd:string) AnnotationAssertion( "MESH:D014085"^^xsd:string) AnnotationAssertion( "Tooth Drift"^^xsd:string) AnnotationAssertion( "Tooth Drifting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004828"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Migration"^^xsd:string) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 6) AnnotationAssertion( "MIM:210750"^^xsd:string) AnnotationAssertion( "MESH:C567139"^^xsd:string) AnnotationAssertion( "SHEP6"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 6, Blond-Brown Hair"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 6, Blue-Green Eyes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004829"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEUROCARDIOFACIODIGITAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619869"^^xsd:string) "This disease is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-28T10:14:58Z"^^xsd:string) AnnotationAssertion( "MIM:619869"^^xsd:string) AnnotationAssertion( "NCFD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004830"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROCARDIOFACIODIGITAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Colitis-Associated Neoplasms) AnnotationAssertion( "Colonic neoplasms associated with chronic inflammation conditions such as ULCERATIVE COLITIS and CROHN DISEASE. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-22T09:51:29Z"^^xsd:string) AnnotationAssertion( "EFO:1000226"^^xsd:string) AnnotationAssertion( "MESH:D000083023"^^xsd:string) AnnotationAssertion( "Colitis-Associated Cancer"^^xsd:string) AnnotationAssertion( "Colitis-Associated Colon Cancer"^^xsd:string) AnnotationAssertion( "Colitis-Associated Colorectal Cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Dysplasia in Ulcerative Colitis"^^xsd:string) AnnotationAssertion( "DOID:9004831"^^xsd:string) AnnotationAssertion(rdfs:label "Colitis-Associated Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypomyelinating Neuropathy 2) AnnotationAssertion(Annotation( "MIM:618184"^^xsd:string) "An autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-11T14:00:38Z"^^xsd:string) AnnotationAssertion( "MIM:618184"^^xsd:string) AnnotationAssertion( "CHN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004832"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypomyelinating Neuropathy 2"^^xsd:string) SubClassOf( ) # Class: (Kleiner Holmes Syndrome) AnnotationAssertion( "MIM:234280"^^xsd:string) AnnotationAssertion( "MESH:C536885"^^xsd:string) AnnotationAssertion( "Hallux varus and preaxial polysyndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004833"^^xsd:string) AnnotationAssertion(rdfs:label "Kleiner Holmes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 75) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-31T09:15:47Z"^^xsd:string) AnnotationAssertion( "TET2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619126"^^xsd:string) AnnotationAssertion( "IMD75"^^xsd:string) AnnotationAssertion( "Immunodeficiency-75 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004835"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 75"^^xsd:string) SubClassOf( ) # Class: (CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004836"^^xsd:string) AnnotationAssertion(rdfs:label "CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 11) AnnotationAssertion(Annotation( "MIM:619643"^^xsd:string) "Characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Caused by homozygous mutation in the ASTL gene on chromosome 2q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-07T16:43:51Z"^^xsd:string) AnnotationAssertion( "MIM:619643"^^xsd:string) AnnotationAssertion( "OOMD11"^^xsd:string) AnnotationAssertion( "OZEMA11"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004838"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 11"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD) AnnotationAssertion( "An autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. (OMIM)"^^xsd:string) AnnotationAssertion( "PPM1D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617450"^^xsd:string) AnnotationAssertion( "RDO:9001709"^^xsd:string) AnnotationAssertion( "IDDGIP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004839"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dwarfism, Levi Type) AnnotationAssertion( "MIM:127100"^^xsd:string) AnnotationAssertion( "MESH:C565081"^^xsd:string) AnnotationAssertion( "Snub-Nosed Type of Dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004841"^^xsd:string) AnnotationAssertion(rdfs:label "Dwarfism, Levi Type"^^xsd:string) SubClassOf( ) # Class: (Periodontal Attachment Loss) AnnotationAssertion(Annotation( "MESH:D017622"^^xsd:string) "Loss or destruction of periodontal tissue caused by periodontitis or other destructive periodontal diseases or by injury during instrumentation. Attachment refers to the periodontal ligament which attaches to the alveolar bone. It has been hypothesized that treatment of the underlying periodontal disease and the seeding of periodontal ligament cells enable the creating of new attachment."^^xsd:string) AnnotationAssertion( "MESH:D017622"^^xsd:string) AnnotationAssertion( "RDO:0007063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004842"^^xsd:string) AnnotationAssertion(rdfs:label "Periodontal Attachment Loss"^^xsd:string) SubClassOf( ) # Class: (Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1) AnnotationAssertion( "HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal. Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is caused by homozygous or compound heterozygous mutation in the ROBO3 gene on chromosome 11q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T14:20:32Z"^^xsd:string) AnnotationAssertion( "MIM:607313"^^xsd:string) AnnotationAssertion( "HGPPS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004843"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1"^^xsd:string) SubClassOf( ) # Class: (Feingold Syndrome 1) AnnotationAssertion( "MIM:164280"^^xsd:string) AnnotationAssertion( "FGLDS1"^^xsd:string) AnnotationAssertion( "MYCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004844"^^xsd:string) AnnotationAssertion(rdfs:label "Feingold Syndrome 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Craniosynostosis Mental Retardation Clefting Syndrome) AnnotationAssertion( "MIM:218650"^^xsd:string) AnnotationAssertion( "MESH:C565663"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004846"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis Mental Retardation Clefting Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudoaminopterin Syndrome) AnnotationAssertion( "MIM:600325"^^xsd:string) AnnotationAssertion( "MESH:C535823"^^xsd:string) AnnotationAssertion( "Aminopterin syndrome sine aminopterin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004847"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoaminopterin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness) AnnotationAssertion( "MIM:609057"^^xsd:string) AnnotationAssertion( "MESH:C563798"^^xsd:string) AnnotationAssertion( "EBS7"^^xsd:string) AnnotationAssertion( "nephropathy with pretibial epidermolysis bullosa and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004850"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Severe Acute Malnutrition) AnnotationAssertion(Annotation( "MESH:D000067011"^^xsd:string) "Acute form of MALNUTRITION which usually affects children, characterized by a very low weight for height (below -3z scores of the median World Health Organization standards), visible severe wasting, or occurrence of nutritional EDEMA. It can be a direct or indirect cause of fatality in children suffering from DIARRHEA and PNEUMONIA. Do not confuse with starvation, a condition in which the body is not getting enough food, usually for extended periods of time."^^xsd:string) AnnotationAssertion( "MESH:D000067011"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004851"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Acute Malnutrition"^^xsd:string) SubClassOf( ) # Class: (Sinoatrial Node Dysfunction and Deafness) AnnotationAssertion( "CACNA1D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CACNA1D-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614896"^^xsd:string) AnnotationAssertion( "RDO:9001074"^^xsd:string) AnnotationAssertion( "SANDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004852"^^xsd:string) AnnotationAssertion(rdfs:label "Sinoatrial Node Dysfunction and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 6) AnnotationAssertion( "MIM:608908"^^xsd:string) AnnotationAssertion( "MESH:C536105"^^xsd:string) AnnotationAssertion( "MYP6"^^xsd:string) AnnotationAssertion( "Myopia, susceptibility to"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004853"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 6"^^xsd:string) SubClassOf( ) # Class: (Herpes Zoster Ophthalmicus) AnnotationAssertion(Annotation( "MESH:D006563"^^xsd:string) "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve."^^xsd:string) AnnotationAssertion( "EFO:0007403"^^xsd:string) AnnotationAssertion( "MESH:D006563"^^xsd:string) AnnotationAssertion( "Ocular Herpes Zoster"^^xsd:string) AnnotationAssertion( "ophthalmic herpes zoster"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004854"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Zoster Ophthalmicus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Simosa Cranio Facial Syndrome) AnnotationAssertion( "MIM:182150"^^xsd:string) AnnotationAssertion( "MESH:C537339"^^xsd:string) AnnotationAssertion( "Simosa craniofacial syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004855"^^xsd:string) AnnotationAssertion(rdfs:label "Simosa Cranio Facial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ethanolaminosis) AnnotationAssertion( "MIM:227150"^^xsd:string) AnnotationAssertion( "MESH:C562651"^^xsd:string) AnnotationAssertion( "Ethanolamine Kinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004856"^^xsd:string) AnnotationAssertion(rdfs:label "Ethanolaminosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pyruvate Dehydrogenase E1-Beta Deficiency) AnnotationAssertion( "MIM:614111"^^xsd:string) AnnotationAssertion( "MESH:C566729"^^xsd:string) AnnotationAssertion( "PDHBD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004857"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Dehydrogenase E1-Beta Deficiency"^^xsd:string) SubClassOf( ) # Class: (Progressive Nephropathy with Deafness) AnnotationAssertion( "MIM:609469"^^xsd:string) AnnotationAssertion( "MESH:C563713"^^xsd:string) AnnotationAssertion( "Alport Focal Segmental Glomerulosclerosis-Like Syndrome"^^xsd:string) AnnotationAssertion( "NEDE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004858"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Nephropathy with Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dermoodontodysplasia) AnnotationAssertion( "MIM:125640"^^xsd:string) AnnotationAssertion( "MESH:C565103"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004859"^^xsd:string) AnnotationAssertion(rdfs:label "Dermoodontodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Penttinen-Aula Syndrome) AnnotationAssertion( "MIM:601812"^^xsd:string) AnnotationAssertion( "MESH:C536653"^^xsd:string) AnnotationAssertion( "PENTT"^^xsd:string) AnnotationAssertion( "Penttinen syndrome"^^xsd:string) AnnotationAssertion( "premature aging syndrome Penttinen type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004860"^^xsd:string) AnnotationAssertion(rdfs:label "Penttinen-Aula Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Van Bogaert-Hozay Syndrome) AnnotationAssertion( "MIM:277150"^^xsd:string) AnnotationAssertion( "MESH:C536526"^^xsd:string) AnnotationAssertion( "Acro-osteolysis-facial dysplasia syndrome"^^xsd:string) AnnotationAssertion( "Hozay's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004863"^^xsd:string) AnnotationAssertion(rdfs:label "Van Bogaert-Hozay Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isodicentric Chromosome 15 Syndrome) AnnotationAssertion( "MESH:C580205"^^xsd:string) AnnotationAssertion( "RDO:0015902"^^xsd:string) AnnotationAssertion( "Duplication-Inversion 15q11"^^xsd:string) AnnotationAssertion( "Idic(15)"^^xsd:string) AnnotationAssertion( "Inv Dup(15)"^^xsd:string) AnnotationAssertion( "Inverted Duplication 15"^^xsd:string) AnnotationAssertion( "Isodicentric Chromosome 15"^^xsd:string) AnnotationAssertion( "Non-Distal Tetrasomy 15q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004864"^^xsd:string) AnnotationAssertion(rdfs:label "Isodicentric Chromosome 15 Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nuchal Cord) AnnotationAssertion(Annotation( "MESH:D053589"^^xsd:string) "A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth."^^xsd:string) AnnotationAssertion( "MESH:D053589"^^xsd:string) AnnotationAssertion( "Double Nuchal Cord"^^xsd:string) AnnotationAssertion( "Fetal Cord Entanglement"^^xsd:string) AnnotationAssertion( "Fetal Cord Entanglements"^^xsd:string) AnnotationAssertion( "Quadruple Nuchal Cord"^^xsd:string) AnnotationAssertion( "Single Nuchal Cord"^^xsd:string) AnnotationAssertion( "Triple Nuchal Cord"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004865"^^xsd:string) AnnotationAssertion(rdfs:label "Nuchal Cord"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ataxia) AnnotationAssertion(Annotation( "MESH:D001259"^^xsd:string) "Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D001259"^^xsd:string) AnnotationAssertion( "Appendicular Ataxia"^^xsd:string) AnnotationAssertion( "Appendicular Ataxias"^^xsd:string) AnnotationAssertion( "Ataxias"^^xsd:string) AnnotationAssertion( "Ataxy"^^xsd:string) AnnotationAssertion( "Coordination Impairment"^^xsd:string) AnnotationAssertion( "Coordination Impairments"^^xsd:string) AnnotationAssertion( "Coordination Lack"^^xsd:string) AnnotationAssertion( "Dyscoordination"^^xsd:string) AnnotationAssertion( "Dyssynergia"^^xsd:string) AnnotationAssertion( "Incoordination"^^xsd:string) AnnotationAssertion( "Incoordinations"^^xsd:string) AnnotationAssertion( "Lack of Coordination"^^xsd:string) AnnotationAssertion( "Limb Ataxia"^^xsd:string) AnnotationAssertion( "Limb Ataxias"^^xsd:string) AnnotationAssertion( "Motor Ataxia"^^xsd:string) AnnotationAssertion( "Motor Ataxias"^^xsd:string) AnnotationAssertion( "Rubral Tremor"^^xsd:string) AnnotationAssertion( "Rubral Tremors"^^xsd:string) AnnotationAssertion( "Sensory Ataxia"^^xsd:string) AnnotationAssertion( "Sensory Ataxias"^^xsd:string) AnnotationAssertion( "Truncal Ataxia"^^xsd:string) AnnotationAssertion( "Truncal Ataxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004866"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism) AnnotationAssertion( "MIM:268020"^^xsd:string) AnnotationAssertion( "MESH:C564841"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004867"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities) AnnotationAssertion(Annotation( "MIM:618430"^^xsd:string) "An autosomal dominant neurodevelopmental disorder."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-05T10:02:22Z"^^xsd:string) AnnotationAssertion( "EFO:0010644"^^xsd:string) AnnotationAssertion( "MIM:618430"^^xsd:string) AnnotationAssertion( "DDVIBA"^^xsd:string) AnnotationAssertion( "TCF20-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004868"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anemia Due To Adenosine Triphosphatase Deficiency) AnnotationAssertion( "MIM:102800"^^xsd:string) AnnotationAssertion( "MESH:C566311"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004869"^^xsd:string) AnnotationAssertion(rdfs:label "Anemia Due To Adenosine Triphosphatase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Mengel Konigsmark Syndrome) AnnotationAssertion( "MESH:C537239"^^xsd:string) AnnotationAssertion( "RDO:0003031"^^xsd:string) AnnotationAssertion( "Conductive hearing loss and malformed low-set ears"^^xsd:string) AnnotationAssertion( "Ear deformity and conductive hearing loss"^^xsd:string) AnnotationAssertion( "Familial congenital moderate neural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004870"^^xsd:string) AnnotationAssertion(rdfs:label "Mengel Konigsmark Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mercury Poisoning, Nervous System) AnnotationAssertion(Annotation( "MESH:D020262"^^xsd:string) "Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)"^^xsd:string) AnnotationAssertion( "MESH:D020262"^^xsd:string) AnnotationAssertion( "RDO:0004718"^^xsd:string) AnnotationAssertion( "Inorganic Mercury Poisoning"^^xsd:string) AnnotationAssertion( "Mad Hatter Disease"^^xsd:string) AnnotationAssertion( "Mad Hatter Diseases"^^xsd:string) AnnotationAssertion( "Mad Hatter's Disease"^^xsd:string) AnnotationAssertion( "Mad Hatters Disease"^^xsd:string) AnnotationAssertion( "Mercurial Neuroanesthenia"^^xsd:string) AnnotationAssertion( "Mercurial Psychosis"^^xsd:string) AnnotationAssertion( "Mercury Encephalopathy"^^xsd:string) AnnotationAssertion( "Mercury Induced Nervous System Diseases"^^xsd:string) AnnotationAssertion( "Mercury Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "Mercury Neurotoxicity Syndromes"^^xsd:string) AnnotationAssertion( "Mercury Psychosis"^^xsd:string) AnnotationAssertion( "Minamata Disease"^^xsd:string) AnnotationAssertion( "Nervous System Mercurialism"^^xsd:string) AnnotationAssertion( "Neurologic Mercurialism"^^xsd:string) AnnotationAssertion( "Neurologic Mercury Poisoning"^^xsd:string) AnnotationAssertion( "Organic Mercury Poisoning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004871"^^xsd:string) AnnotationAssertion(rdfs:label "Mercury Poisoning, Nervous System"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Infantile Lactic Acidosis) AnnotationAssertion( "RDO:0004070"^^xsd:string) AnnotationAssertion( "MESH:C538134"^^xsd:string) AnnotationAssertion( "CONGENITAL LACTIC ACIDOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004872"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Infantile Lactic Acidosis"^^xsd:string) SubClassOf( ) # Class: (Mushroom Poisoning) AnnotationAssertion(Annotation( "MESH:D009145"^^xsd:string) "Poisoning from ingestion of mushrooms, primarily from, but not restricted to, toxic varieties."^^xsd:string) AnnotationAssertion( "MESH:D009145"^^xsd:string) AnnotationAssertion( "Mushroom Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004873"^^xsd:string) AnnotationAssertion(rdfs:label "Mushroom Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dermal Fibrosis) AnnotationAssertion( "A pathological condition where fibrous connective tissue invades the skin, usually as a consequence of inflammation or other injury."^^xsd:string) AnnotationAssertion( "RDO:9000104"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004874"^^xsd:string) AnnotationAssertion(rdfs:label "Dermal Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Multinodular Goiter 3) AnnotationAssertion( "MIM:606082"^^xsd:string) AnnotationAssertion( "MESH:C565260"^^xsd:string) AnnotationAssertion( "MNG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004876"^^xsd:string) AnnotationAssertion(rdfs:label "Multinodular Goiter 3"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Tubulointerstitial Kidney Disease 5) AnnotationAssertion( "MIM:617056"^^xsd:string) AnnotationAssertion( "ADTKD5"^^xsd:string) AnnotationAssertion( "HNFJ4"^^xsd:string) AnnotationAssertion( "familial juvenile hyperuricemic nephropathy 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004877"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Tubulointerstitial Kidney Disease 5"^^xsd:string) SubClassOf( ) # Class: (L-Ferritin Deficiency) AnnotationAssertion( "MIM:615604"^^xsd:string) AnnotationAssertion( "LFTD"^^xsd:string) AnnotationAssertion( "L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004878"^^xsd:string) AnnotationAssertion(rdfs:label "L-Ferritin Deficiency"^^xsd:string) SubClassOf( ) # Class: (Mediastinal Fibrosis) AnnotationAssertion( "MESH:C536136"^^xsd:string) AnnotationAssertion( "Fibrosing mediastinitis"^^xsd:string) AnnotationAssertion( "Idiopathic mediastinal fibrosis"^^xsd:string) AnnotationAssertion( "Sclerosing mediastinitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004879"^^xsd:string) AnnotationAssertion(rdfs:label "Mediastinal Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA) AnnotationAssertion( "MIM:616007"^^xsd:string) AnnotationAssertion( "CAGSSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004880"^^xsd:string) AnnotationAssertion(rdfs:label "CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-23T16:02:38Z"^^xsd:string) AnnotationAssertion( "MIM:619099"^^xsd:string) AnnotationAssertion( "IDDSAPN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004881"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Waaler Aarskog Syndrome) AnnotationAssertion( "MESH:C536461"^^xsd:string) AnnotationAssertion( "RDO:0002053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004882"^^xsd:string) AnnotationAssertion(rdfs:label "Waaler Aarskog Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pilonidal Sinus) AnnotationAssertion(Annotation( "MESH:D010864"^^xsd:string) "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region."^^xsd:string) AnnotationAssertion( "MIM:173000"^^xsd:string) AnnotationAssertion( "OMIA:000272"^^xsd:string) AnnotationAssertion( "MESH:D010864"^^xsd:string) AnnotationAssertion( "pilonidal cyst"^^xsd:string) AnnotationAssertion( "pilonidal cysts"^^xsd:string) AnnotationAssertion( "Dermoid sinus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004883"^^xsd:string) AnnotationAssertion(rdfs:label "Pilonidal Sinus"^^xsd:string) SubClassOf( ) # Class: (Esophageal Cyst) AnnotationAssertion(Annotation( "MESH:D004934"^^xsd:string) "Any fluid-filled closed cavity or sac (CYSTS) that is lined by an EPITHELIUM and found in the ESOPHAGUS region."^^xsd:string) AnnotationAssertion( "MESH:D004934"^^xsd:string) AnnotationAssertion( "RDO:0005537"^^xsd:string) AnnotationAssertion( "Esophageal Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004884"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Azotemia) AnnotationAssertion( "MIM:109160"^^xsd:string) AnnotationAssertion( "MESH:C566233"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004885"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Azotemia"^^xsd:string) SubClassOf( ) # Class: (Tumor Virus Infections) AnnotationAssertion(Annotation( "MESH:D014412"^^xsd:string) "Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses."^^xsd:string) AnnotationAssertion( "MESH:D014412"^^xsd:string) AnnotationAssertion( "Shope Fibroma"^^xsd:string) AnnotationAssertion( "Shope Papilloma"^^xsd:string) AnnotationAssertion( "Tumor Virus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004886"^^xsd:string) AnnotationAssertion(rdfs:label "Tumor Virus Infections"^^xsd:string) SubClassOf( ) # Class: (Annular Epidermolytic Ichthyosis 1) AnnotationAssertion(Annotation( "MIM:607602"^^xsd:string) "A disease characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. Caused by heterozygous mutation in the keratin-10 gene (KRT10)."^^xsd:string) AnnotationAssertion( "MIM:607602"^^xsd:string) AnnotationAssertion( "AEI1"^^xsd:string) AnnotationAssertion( "CIEHK1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004887"^^xsd:string) AnnotationAssertion(rdfs:label "Annular Epidermolytic Ichthyosis 1"^^xsd:string) SubClassOf( ) # Class: (Parietal Foramina 1) AnnotationAssertion( "MIM:168500"^^xsd:string) AnnotationAssertion( "MESH:C566827"^^xsd:string) AnnotationAssertion( "PFM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004888"^^xsd:string) AnnotationAssertion(rdfs:label "Parietal Foramina 1"^^xsd:string) SubClassOf( ) # Class: (Cerebral Ventriculitis) AnnotationAssertion(Annotation( "MESH:D058565"^^xsd:string) "Inflammation of CEREBRAL VENTRICLES."^^xsd:string) AnnotationAssertion( "MESH:D058565"^^xsd:string) AnnotationAssertion( "Cerebral Ventriculitides"^^xsd:string) AnnotationAssertion( "Infectious Ventriculitides"^^xsd:string) AnnotationAssertion( "Infectious Ventriculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004889"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Ventriculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paranoid Disorders) AnnotationAssertion(Annotation( "MESH:D010259"^^xsd:string) "Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state."^^xsd:string) AnnotationAssertion( "MESH:D010259"^^xsd:string) AnnotationAssertion( "RDO:0006285"^^xsd:string) AnnotationAssertion( "Paranoia"^^xsd:string) AnnotationAssertion( "Paranoias"^^xsd:string) AnnotationAssertion( "Paranoid Disorder"^^xsd:string) AnnotationAssertion( "Paranoid Psychoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004890"^^xsd:string) AnnotationAssertion(rdfs:label "Paranoid Disorders"^^xsd:string) SubClassOf( ) # Class: (Spranger Schinzel Myers Syndrome) AnnotationAssertion( "MESH:C535801"^^xsd:string) AnnotationAssertion( "Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits"^^xsd:string) AnnotationAssertion( "Cerebroarthrodigital syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004891"^^xsd:string) AnnotationAssertion(rdfs:label "Spranger Schinzel Myers Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Acanthosis Nigricans) AnnotationAssertion( "MESH:C531598"^^xsd:string) AnnotationAssertion( "RDO:0000009"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004892"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Acanthosis Nigricans"^^xsd:string) SubClassOf( ) # Class: (Head and Neck Paraganglioma) AnnotationAssertion(Annotation( "NCI:C5327"^^xsd:string) "This is a benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T17:21:38Z"^^xsd:string) AnnotationAssertion( "EFO:1000288"^^xsd:string) AnnotationAssertion( "HNP"^^xsd:string) AnnotationAssertion( "HNPGL"^^xsd:string) AnnotationAssertion( "craniocervical region paragangliom"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004893"^^xsd:string) AnnotationAssertion(rdfs:label "Head and Neck Paraganglioma"^^xsd:string) SubClassOf( ) # Class: (Lethal Muscular Hypertonia) AnnotationAssertion( "MIM:254120"^^xsd:string) AnnotationAssertion( "MESH:C564982"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004894"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Muscular Hypertonia"^^xsd:string) SubClassOf( ) # Class: (Chromosome 14, Trisomy Mosaic) AnnotationAssertion( "MESH:C535489"^^xsd:string) AnnotationAssertion( "Trisomy 14 mosaic"^^xsd:string) AnnotationAssertion( "Trisomy 14 mosaicism"^^xsd:string) AnnotationAssertion( "Trisomy 14 mosaicism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004895"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14, Trisomy Mosaic"^^xsd:string) SubClassOf( ) # Class: (Primary Lateral Sclerosis Juvenile) AnnotationAssertion( "MIM:606353"^^xsd:string) AnnotationAssertion( "MESH:C536416"^^xsd:string) AnnotationAssertion( "RDO:0002002"^^xsd:string) AnnotationAssertion( "PLS, JUVENILE"^^xsd:string) AnnotationAssertion( "PLSJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004896"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Lateral Sclerosis Juvenile"^^xsd:string) SubClassOf( ) # Class: (X-Linked Tetra-Amelia) AnnotationAssertion( "MESH:C536497"^^xsd:string) AnnotationAssertion( "RDO:0002099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004897"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Tetra-Amelia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jaundice) AnnotationAssertion(Annotation( "MESH:D007565"^^xsd:string) "A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction."^^xsd:string) AnnotationAssertion( "MESH:D007565"^^xsd:string) AnnotationAssertion( "Hemolytic Jaundice"^^xsd:string) AnnotationAssertion( "Hemolytic Jaundices"^^xsd:string) AnnotationAssertion( "Icterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004898"^^xsd:string) AnnotationAssertion(rdfs:label "Jaundice"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss) AnnotationAssertion( "MESH:C537789"^^xsd:string) AnnotationAssertion( "Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004899"^^xsd:string) AnnotationAssertion(rdfs:label "Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mesomelic Dwarfism Reinhardt Pfeiffer Type) AnnotationAssertion( "MIM:191400"^^xsd:string) AnnotationAssertion( "MESH:C537349"^^xsd:string) AnnotationAssertion( "Reinhardt Pfeiffer syndrome"^^xsd:string) AnnotationAssertion( "Reinhardt-Pfeiffer mesomelic dysplasia"^^xsd:string) AnnotationAssertion( "Reinhardt-Pfeiffer mesomelic skeletal dysplasia"^^xsd:string) AnnotationAssertion( "hypoplasia of ulna and fibula"^^xsd:string) AnnotationAssertion( "mesomelic dwarfism of hypoplastic ulna and fibula type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004900"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Dwarfism Reinhardt Pfeiffer Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS) AnnotationAssertion( "MIM:613671"^^xsd:string) AnnotationAssertion( "Impaired intellectual development, anterior maxillary protrusion, and strabismus"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS"^^xsd:string) AnnotationAssertion( "MRAMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004901"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Poultry Diseases) AnnotationAssertion(Annotation( "MESH:D011201"^^xsd:string) "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from BIRD DISEASES which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild."^^xsd:string) AnnotationAssertion( "MESH:D011201"^^xsd:string) AnnotationAssertion( "Poultry Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004902"^^xsd:string) AnnotationAssertion(rdfs:label "Poultry Diseases"^^xsd:string) SubClassOf( ) # Class: (Focal Cortical Dysplasia of Taylor, Type IIA) AnnotationAssertion( "MESH:C564583"^^xsd:string) AnnotationAssertion( "CDTD"^^xsd:string) AnnotationAssertion( "Cortical Dysplasia of Taylor without Balloon Cells"^^xsd:string) AnnotationAssertion( "Cortical Dysplasia of Taylor, Dysplasia Only"^^xsd:string) AnnotationAssertion( "FCD IIA"^^xsd:string) AnnotationAssertion( "FCD2A"^^xsd:string) AnnotationAssertion( "FCORD2A"^^xsd:string) AnnotationAssertion( "FOCAL CORTICAL DYSPLASIA, TYPE IIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004903"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Cortical Dysplasia of Taylor, Type IIA"^^xsd:string) SubClassOf( ) # Class: (SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615789"^^xsd:string) AnnotationAssertion( "RDO:9001278"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004904"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lethal Congenital Neutropenia with Eosinophilia) AnnotationAssertion( "MIM:257100"^^xsd:string) AnnotationAssertion( "MESH:C564943"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004905"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Neutropenia with Eosinophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Bone Marrow Failure Syndromes) AnnotationAssertion( "Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T11:46:28Z"^^xsd:string) AnnotationAssertion( "MESH:D000080984"^^xsd:string) AnnotationAssertion( "CBMFS"^^xsd:string) AnnotationAssertion( "IBMFS"^^xsd:string) AnnotationAssertion( "Inherited BMF Syndromes"^^xsd:string) AnnotationAssertion( "Inherited Bone Marrow Failure Syndromes"^^xsd:string) AnnotationAssertion( "inherited bone marrow failure syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004906"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Bone Marrow Failure Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Chondrodysplasia, Spahr Type) AnnotationAssertion( "MIM:250400"^^xsd:string) AnnotationAssertion( "MMP13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537353"^^xsd:string) AnnotationAssertion( "MDST"^^xsd:string) AnnotationAssertion( "METAPHYSEAL DYSPLASIA, SPAHR TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004907"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia, Spahr Type"^^xsd:string) SubClassOf( ) # Class: (Optic Atrophy 16) AnnotationAssertion(Annotation( "MIM:620629"^^xsd:string) "An autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment. Caused by homozygous mutation in the MECR gene on chromosome 1p35."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:48:02Z"^^xsd:string) AnnotationAssertion( "MIM:620629"^^xsd:string) AnnotationAssertion( "OPA16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004908"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy 16"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 80) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-12T15:10:31Z"^^xsd:string) AnnotationAssertion( "MIM:619313"^^xsd:string) AnnotationAssertion( "IMD80"^^xsd:string) AnnotationAssertion( "MCM10 deficiency"^^xsd:string) AnnotationAssertion( "immunodeficiency-80 with or without congenital cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004909"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 80"^^xsd:string) SubClassOf( ) # Class: (Hereditary Macular Coloboma) AnnotationAssertion( "MESH:C535968"^^xsd:string) AnnotationAssertion( "agenesis of macula"^^xsd:string) AnnotationAssertion( "coloboma of macula"^^xsd:string) AnnotationAssertion( "macular coloboma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004910"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Macular Coloboma"^^xsd:string) SubClassOf( ) # Class: (Thymus Hyperplasia) AnnotationAssertion(Annotation( "MESH:D013952"^^xsd:string) "Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)"^^xsd:string) AnnotationAssertion( "EFO:1001860"^^xsd:string) AnnotationAssertion( "MESH:D013952"^^xsd:string) AnnotationAssertion( "Hyperplasia of Thymus Gland"^^xsd:string) AnnotationAssertion( "Thymic Hyperplasia"^^xsd:string) AnnotationAssertion( "Thymic Hyperplasias"^^xsd:string) AnnotationAssertion( "Thymus Gland Hyperplasia"^^xsd:string) AnnotationAssertion( "Thymus Gland Hyperplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004911"^^xsd:string) AnnotationAssertion(rdfs:label "Thymus Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Hyperoxaluria) AnnotationAssertion(Annotation( "MESH:D006959"^^xsd:string) "Excretion of an excessive amount of OXALATES in the urine."^^xsd:string) AnnotationAssertion( "MESH:D006959"^^xsd:string) AnnotationAssertion( "oxalosis"^^xsd:string) AnnotationAssertion( "oxaluria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004912"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperoxaluria"^^xsd:string) SubClassOf( ) # Class: (ACCES Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-29T11:24:54Z"^^xsd:string) AnnotationAssertion( "MIM:619959"^^xsd:string) AnnotationAssertion( "ACCES"^^xsd:string) AnnotationAssertion( "aplasia cutis congenita with ectrodactyly skeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004913"^^xsd:string) AnnotationAssertion(rdfs:label "ACCES Syndrome"^^xsd:string) SubClassOf( ) # Class: (Postmenopausal Osteoporosis) AnnotationAssertion(Annotation( "MESH:D015663"^^xsd:string) "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency."^^xsd:string) AnnotationAssertion( "RDO:0006911"^^xsd:string) AnnotationAssertion( "EFO:0003854"^^xsd:string) AnnotationAssertion( "MESH:D015663"^^xsd:string) AnnotationAssertion( "Post-Menopausal Osteoporoses"^^xsd:string) AnnotationAssertion( "Postmenopausal Bone Loss"^^xsd:string) AnnotationAssertion( "Postmenopausal Bone Losses"^^xsd:string) AnnotationAssertion( "perimenopausal bone loss"^^xsd:string) AnnotationAssertion( "perimenopausal bone losses"^^xsd:string) AnnotationAssertion( "post-menopausal osteoporosis"^^xsd:string) AnnotationAssertion( "postmenopausal osteoporoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004914"^^xsd:string) AnnotationAssertion(rdfs:label "Postmenopausal Osteoporosis"^^xsd:string) SubClassOf( ) # Class: (Decreased Urinary Activity of Kallikrein) AnnotationAssertion( "MIM:615953"^^xsd:string) AnnotationAssertion( "MESH:C563653"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004915"^^xsd:string) AnnotationAssertion(rdfs:label "Decreased Urinary Activity of Kallikrein"^^xsd:string) SubClassOf( ) # Class: (Morton Neuroma) AnnotationAssertion(Annotation( "MESH:D000070607"^^xsd:string) "A nerve inflammation in the foot caused by chronic compression of the plantar nerve between the METATARSAL BONES."^^xsd:string) AnnotationAssertion( "EFO:0010582"^^xsd:string) AnnotationAssertion( "MESH:D000070607"^^xsd:string) AnnotationAssertion( "Intermetatarsal Neuroma"^^xsd:string) AnnotationAssertion( "Intermetatarsal Neuromas"^^xsd:string) AnnotationAssertion( "Morton Disease"^^xsd:string) AnnotationAssertion( "Morton Metatarsalgia"^^xsd:string) AnnotationAssertion( "Morton Neuralgia"^^xsd:string) AnnotationAssertion( "Morton's Disease"^^xsd:string) AnnotationAssertion( "Morton's Metatarsalgia"^^xsd:string) AnnotationAssertion( "Morton's Neuralgia"^^xsd:string) AnnotationAssertion( "Morton's Neuroma"^^xsd:string) AnnotationAssertion( "Mortons Disease"^^xsd:string) AnnotationAssertion( "Mortons Metatarsalgia"^^xsd:string) AnnotationAssertion( "Mortons Neuralgia"^^xsd:string) AnnotationAssertion( "Mortons Neuroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004916"^^xsd:string) AnnotationAssertion(rdfs:label "Morton Neuroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (White Muscle Disease) AnnotationAssertion(Annotation( "MESH:D014912"^^xsd:string) "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)"^^xsd:string) AnnotationAssertion( "MESH:D014912"^^xsd:string) AnnotationAssertion( "RDO:0006826"^^xsd:string) AnnotationAssertion( "White Muscle Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004917"^^xsd:string) AnnotationAssertion(rdfs:label "White Muscle Disease"^^xsd:string) SubClassOf( ) # Class: (Menstruation Disturbances) AnnotationAssertion(Annotation( "MESH:D008599"^^xsd:string) "Variations of menstruation which may be indicative of disease."^^xsd:string) AnnotationAssertion( "MESH:D008599"^^xsd:string) AnnotationAssertion( "Hypomenorrhea"^^xsd:string) AnnotationAssertion( "Hypomenorrheas"^^xsd:string) AnnotationAssertion( "Menstruation Disorder"^^xsd:string) AnnotationAssertion( "Menstruation Disorders"^^xsd:string) AnnotationAssertion( "Menstruation Disturbance"^^xsd:string) AnnotationAssertion( "Polymenorrhea"^^xsd:string) AnnotationAssertion( "Polymenorrheas"^^xsd:string) AnnotationAssertion( "Retrograde Menstruation"^^xsd:string) AnnotationAssertion( "Retrograde Menstruations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004918"^^xsd:string) AnnotationAssertion(rdfs:label "Menstruation Disturbances"^^xsd:string) SubClassOf( ) # Class: (Perinatal Lethal Hypophosphatasia) AnnotationAssertion( "MESH:C567107"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004919"^^xsd:string) AnnotationAssertion(rdfs:label "Perinatal Lethal Hypophosphatasia"^^xsd:string) SubClassOf( ) # Class: (Porokeratosis, Disseminated Superficial Actinic, 3) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK5 maps to chromosome 1p31. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:612293"^^xsd:string) AnnotationAssertion( "MESH:C567356"^^xsd:string) AnnotationAssertion( "DSAP3"^^xsd:string) AnnotationAssertion( "POROK5"^^xsd:string) AnnotationAssertion( "POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004920"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis, Disseminated Superficial Actinic, 3"^^xsd:string) SubClassOf( ) # Class: (Schisis Association) AnnotationAssertion( "GARD:246"^^xsd:string) AnnotationAssertion( "MESH:C536633"^^xsd:string) AnnotationAssertion( "MONDO:0018976"^^xsd:string) AnnotationAssertion( "ORDO:63862"^^xsd:string) AnnotationAssertion( "Midline development field defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004921"^^xsd:string) AnnotationAssertion(rdfs:label "Schisis Association"^^xsd:string) SubClassOf( ) # Class: (Spinal Cord Ischemia) AnnotationAssertion(Annotation( "MESH:D020760"^^xsd:string) "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue."^^xsd:string) AnnotationAssertion( "EFO:1001426"^^xsd:string) AnnotationAssertion( "MESH:D020760"^^xsd:string) AnnotationAssertion( "RDO:0003675"^^xsd:string) AnnotationAssertion( "Experimental Spinal Cord Ischemia"^^xsd:string) AnnotationAssertion( "Ischemic Myelopathies"^^xsd:string) AnnotationAssertion( "Ischemic Myelopathy"^^xsd:string) AnnotationAssertion( "Spinal Cord Ischemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004922"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Ischemia"^^xsd:string) SubClassOf( ) # Class: (Delpire-McNeill Syndrome) AnnotationAssertion( "A neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-10T14:13:36Z"^^xsd:string) AnnotationAssertion( "MIM:619083"^^xsd:string) AnnotationAssertion( "DELMNES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004923"^^xsd:string) AnnotationAssertion(rdfs:label "Delpire-McNeill Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency, 3) AnnotationAssertion( "GARD:10603"^^xsd:string) AnnotationAssertion( "MESH:C536710"^^xsd:string) AnnotationAssertion( "MIM:221750"^^xsd:string) AnnotationAssertion( "MONDO:0009091"^^xsd:string) AnnotationAssertion( "ORDO:231720"^^xsd:string) AnnotationAssertion( "CPHD3"^^xsd:string) AnnotationAssertion( "LHX3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome"^^xsd:string) AnnotationAssertion( "Sensorineural deafness with Pituitary dwarfism"^^xsd:string) AnnotationAssertion( "Winkelman-Bethge-Pfeiffer syndrome"^^xsd:string) AnnotationAssertion( "combined pituitary hormone deficiency with rigid cervical spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004924"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency, 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport) AnnotationAssertion( "MIM:251945"^^xsd:string) AnnotationAssertion( "MESH:C565376"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004925"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport"^^xsd:string) SubClassOf( ) # Class: (Chromosome 22, Microdeletion 22 q11) AnnotationAssertion( "MESH:C536797"^^xsd:string) AnnotationAssertion( "Microdeletion 22 q11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004926"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 22, Microdeletion 22 q11"^^xsd:string) SubClassOf( ) # Class: (Stomatocytosis II) AnnotationAssertion( "MESH:C566110"^^xsd:string) AnnotationAssertion( "RDO:0014567"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004927"^^xsd:string) AnnotationAssertion(rdfs:label "Stomatocytosis II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 7, Monosomy) AnnotationAssertion( "MESH:C537814"^^xsd:string) AnnotationAssertion( "RDO:0003718"^^xsd:string) AnnotationAssertion( "Monosomy 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004928"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Monosomy"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypodysfibrinogenemia) AnnotationAssertion( "RDO:0014466"^^xsd:string) AnnotationAssertion( "MESH:C565970"^^xsd:string) AnnotationAssertion( "Hypodysfibrinogenemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FIBRINOGEN CHRISTCHURCH 2"^^xsd:string) AnnotationAssertion( "FIBRINOGEN HAIFA 1"^^xsd:string) AnnotationAssertion( "FIBRINOGEN LONGMONT"^^xsd:string) AnnotationAssertion( "FIBRINOGEN NIJMEGEN"^^xsd:string) AnnotationAssertion( "FIBRINOGEN ROUEN 1"^^xsd:string) AnnotationAssertion( "FIBRINOGEN TOKYO 2"^^xsd:string) AnnotationAssertion( "fibrinogen Baltimore 2"^^xsd:string) AnnotationAssertion( "fibrinogen Philadelphia"^^xsd:string) AnnotationAssertion( "DOID:9004929"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypodysfibrinogenemia"^^xsd:string) SubClassOf( ) # Class: (Spinal Muscular Atrophy, Facioscapulohumeral Type) AnnotationAssertion( "MIM:182970"^^xsd:string) AnnotationAssertion( "MESH:C566674"^^xsd:string) AnnotationAssertion( "FSHSMA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004930"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy, Facioscapulohumeral Type"^^xsd:string) SubClassOf( ) # Class: (Coagulation Protein Disorders) AnnotationAssertion(Annotation( "MESH:D020147"^^xsd:string) "Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-24T07:59:08Z"^^xsd:string) AnnotationAssertion( "DOID:2212"^^xsd:string) AnnotationAssertion( "MESH:D020147"^^xsd:string) AnnotationAssertion( "Coagulation Protein Disorder"^^xsd:string) AnnotationAssertion( "Coagulation Protein Disorders"^^xsd:string) AnnotationAssertion( "blood coagulation factor deficiencies"^^xsd:string) AnnotationAssertion( "coagulation protein disease"^^xsd:string) AnnotationAssertion( "coagulation proteins disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004931"^^xsd:string) AnnotationAssertion(rdfs:label "Coagulation Protein Disorders"^^xsd:string) SubClassOf( ) # Class: (Eales Disease) AnnotationAssertion( "MESH:C538011"^^xsd:string) AnnotationAssertion( "RDO:0003941"^^xsd:string) AnnotationAssertion( "Idiopathic obliterative vasculopathy"^^xsd:string) AnnotationAssertion( "Idiopathic recurrent vitreal hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004932"^^xsd:string) AnnotationAssertion(rdfs:label "Eales Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 5) AnnotationAssertion( "RDO:9000962"^^xsd:string) AnnotationAssertion( "MIM:615483"^^xsd:string) AnnotationAssertion( "IBGC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004933"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 5"^^xsd:string) SubClassOf( ) # Class: (BILATERAL CLEFT LIP) AnnotationAssertion(Annotation( "HP:0100336"^^xsd:string) "A non-midline cleft of the upper lip on the left and right side."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-06T14:43:48Z"^^xsd:string) AnnotationAssertion( "Bilateral cheiloschisis"^^xsd:string) AnnotationAssertion( "Both sided cleft lip"^^xsd:string) AnnotationAssertion( "Right and left cleft lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004934"^^xsd:string) AnnotationAssertion(rdfs:label "BILATERAL CLEFT LIP"^^xsd:string) SubClassOf( ) # Class: (Thiourea Tasting) AnnotationAssertion( "MIM:171200"^^xsd:string) AnnotationAssertion( "PHENYLTHIOCARBAMIDE TASTING"^^xsd:string) AnnotationAssertion( "PROP TASTING"^^xsd:string) AnnotationAssertion( "PROPYLTHIOURACIL TASTING"^^xsd:string) AnnotationAssertion( "PTC TASTING"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004935"^^xsd:string) AnnotationAssertion(rdfs:label "Thiourea Tasting"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aldred Syndrome) AnnotationAssertion( "MESH:C537046"^^xsd:string) AnnotationAssertion( "X-linked mental handicap-retinitis pigmentosa syndrome"^^xsd:string) AnnotationAssertion( "nonspecific mental retardation associated with retinitis pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004937"^^xsd:string) AnnotationAssertion(rdfs:label "Aldred Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eye Hemorrhage) AnnotationAssertion(Annotation( "MESH:D005130"^^xsd:string) "Intraocular hemorrhage from the vessels of various tissues of the eye."^^xsd:string) AnnotationAssertion( "EFO:0008627"^^xsd:string) AnnotationAssertion( "MESH:D005130"^^xsd:string) AnnotationAssertion( "Eye Hemorrhages"^^xsd:string) AnnotationAssertion( "Hemophthalmos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004938"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency) AnnotationAssertion( "MESH:C536255"^^xsd:string) AnnotationAssertion( "Leigh syndrome due to pyruvate carboxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004939"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Akesson Syndrome) AnnotationAssertion( "MIM:304200"^^xsd:string) AnnotationAssertion( "MESH:C535610"^^xsd:string) AnnotationAssertion( "Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation"^^xsd:string) AnnotationAssertion( "Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome"^^xsd:string) AnnotationAssertion( "Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004940"^^xsd:string) AnnotationAssertion(rdfs:label "Akesson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nonsyndromic Holoprosencephaly) AnnotationAssertion( "MESH:C580335"^^xsd:string) AnnotationAssertion( "RDO:0015913"^^xsd:string) AnnotationAssertion( "Isolated Holoprosencephaly"^^xsd:string) AnnotationAssertion( "Isolated Hpe"^^xsd:string) AnnotationAssertion( "Non-Syndromic, Non-Chromosomal Holoprosencephaly"^^xsd:string) AnnotationAssertion( "Non-Syndromic, Non-Chromosomal Hpe"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hpe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004941"^^xsd:string) AnnotationAssertion(rdfs:label "Nonsyndromic Holoprosencephaly"^^xsd:string) SubClassOf( ) # Class: (Niemann-Pick Disease, Intermediate, Protracted Neurovisceral) AnnotationAssertion( "MESH:C567268"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004942"^^xsd:string) AnnotationAssertion(rdfs:label "Niemann-Pick Disease, Intermediate, Protracted Neurovisceral"^^xsd:string) SubClassOf( ) # Class: (Chromosome 10, Trisomy 10pter p13) AnnotationAssertion( "MESH:C538291"^^xsd:string) AnnotationAssertion( "Duplication 10pter p13"^^xsd:string) AnnotationAssertion( "Trisomy 10pter p13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004943"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10, Trisomy 10pter p13"^^xsd:string) SubClassOf( ) # Class: (Tachycardia, Sinoatrial Nodal Reentry) AnnotationAssertion(Annotation( "MESH:D013615"^^xsd:string) "Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval."^^xsd:string) AnnotationAssertion( "EFO:1001843"^^xsd:string) AnnotationAssertion( "MESH:D013615"^^xsd:string) AnnotationAssertion( "Sinus Node Reentrant Tachycardia"^^xsd:string) AnnotationAssertion( "Tachycardia, SA Nodal Reentrant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004944"^^xsd:string) AnnotationAssertion(rdfs:label "Tachycardia, Sinoatrial Nodal Reentry"^^xsd:string) SubClassOf( ) # Class: (Ocular Toxoplasmosis) AnnotationAssertion(Annotation( "MESH:D014126"^^xsd:string) "Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness."^^xsd:string) AnnotationAssertion( "EFO:0007399"^^xsd:string) AnnotationAssertion( "MESH:D014126"^^xsd:string) AnnotationAssertion( "ocular toxoplasmoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004945"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Toxoplasmosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leptin Receptor Deficiency) AnnotationAssertion(Annotation( "MIM:614963"^^xsd:string) "Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. LEPRD is caused by homozygous mutation in the LEPR gene on chromosome 1p31."^^xsd:string) AnnotationAssertion( "MIM:614963"^^xsd:string) AnnotationAssertion( "LEPR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LEPR-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "Morbid Obesity, Nonsyndromic 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004946"^^xsd:string) AnnotationAssertion(rdfs:label "Leptin Receptor Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hippocampal atrophy) AnnotationAssertion(Annotation( "EFO:0005039"^^xsd:string) "This is a decrease in the size of the hippocampus as a result of some external stress or disease."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-19T10:43:26Z"^^xsd:string) AnnotationAssertion( "EFO:0005039"^^xsd:string) AnnotationAssertion( "atrophy of hippocampus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004947"^^xsd:string) AnnotationAssertion(rdfs:label "hippocampal atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma and Sleep Apnea) AnnotationAssertion( "MIM:137763"^^xsd:string) AnnotationAssertion( "MESH:C564232"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004948"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma and Sleep Apnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Merlob Grunebaum Reisner Syndrome) AnnotationAssertion( "MESH:C537461"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004949"^^xsd:string) AnnotationAssertion(rdfs:label "Merlob Grunebaum Reisner Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Panic Disorder with Bladder Conditions) AnnotationAssertion( "MESH:C566834"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004950"^^xsd:string) AnnotationAssertion(rdfs:label "Panic Disorder with Bladder Conditions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (breast pleomorphic carcinoma) AnnotationAssertion(Annotation( "NCI:C5161"^^xsd:string) "This is a rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-06T09:59:36Z"^^xsd:string) AnnotationAssertion( "EFO:1000047"^^xsd:string) AnnotationAssertion( "EFO:1000482"^^xsd:string) AnnotationAssertion( "NCI:C5161"^^xsd:string) AnnotationAssertion( "Anaplastic Breast Carcinoma"^^xsd:string) AnnotationAssertion( "pleomorphic breast carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004951"^^xsd:string) AnnotationAssertion(rdfs:label "breast pleomorphic carcinoma"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES) AnnotationAssertion(Annotation( "MIM:619239"^^xsd:string) "This is a disease characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-11T17:43:42Z"^^xsd:string) AnnotationAssertion( "CUL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CUL3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619239"^^xsd:string) AnnotationAssertion( "NEDAUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004952"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES"^^xsd:string) SubClassOf( ) # Class: (Diabetic Cystopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "diabetic bladder"^^xsd:string) AnnotationAssertion( "diabetic bladder dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004953"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Cystopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neutrophil Actin Dysfunction) AnnotationAssertion( "MIM:257150"^^xsd:string) AnnotationAssertion( "MESH:C564942"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004954"^^xsd:string) AnnotationAssertion(rdfs:label "Neutrophil Actin Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate) AnnotationAssertion( "MIM:615465"^^xsd:string) AnnotationAssertion( "MESH:C564484"^^xsd:string) AnnotationAssertion( "HRTFDS"^^xsd:string) AnnotationAssertion( "Hartsfield Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004955"^^xsd:string) AnnotationAssertion(rdfs:label "Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nocturnal Enuresis) AnnotationAssertion(Annotation( "MESH:D053206"^^xsd:string) "Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control."^^xsd:string) AnnotationAssertion( "MIM:600631"^^xsd:string) AnnotationAssertion( "MESH:D053206"^^xsd:string) AnnotationAssertion( "RDO:0007612"^^xsd:string) AnnotationAssertion( "Bedwetting"^^xsd:string) AnnotationAssertion( "ENUR1"^^xsd:string) AnnotationAssertion( "ENURESIS, NOCTURNAL, 1"^^xsd:string) AnnotationAssertion( "Nighttime Urinary Incontinence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004956"^^xsd:string) AnnotationAssertion(rdfs:label "Nocturnal Enuresis"^^xsd:string) SubClassOf( ) # Class: (Porokeratosis, Disseminated Superficial Actinic, 4) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK4 maps to chromosome 15q25-q26. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:607728"^^xsd:string) AnnotationAssertion( "MESH:C567339"^^xsd:string) AnnotationAssertion( "DSAP2"^^xsd:string) AnnotationAssertion( "DSAP4"^^xsd:string) AnnotationAssertion( "POROK4"^^xsd:string) AnnotationAssertion( "POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE"^^xsd:string) AnnotationAssertion( "disseminated superficial actinic porokeratosis 2"^^xsd:string) AnnotationAssertion( "type 2 punctate PPK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004957"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis, Disseminated Superficial Actinic, 4"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Generalized Epilepsy 16) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-27T08:50:30Z"^^xsd:string) AnnotationAssertion( "MIM:618596"^^xsd:string) AnnotationAssertion( "EIG16"^^xsd:string) AnnotationAssertion( "idiopathic generalized epilepsy, susceptibility to, 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004958"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Generalized Epilepsy 16"^^xsd:string) SubClassOf( ) # Class: (African Degenerative Visceral Leiomyopathy) AnnotationAssertion( "A distinctive visceral myopathy with onset in childhood. It presents as intestinal pseudoobstruction with a massive megacolon due to degeneration of smooth muscle without aganglionosis. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T15:53:40Z"^^xsd:string) AnnotationAssertion( "MIM:619400"^^xsd:string) AnnotationAssertion( "ADL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004959"^^xsd:string) AnnotationAssertion(rdfs:label "African Degenerative Visceral Leiomyopathy"^^xsd:string) SubClassOf( ) # Class: (Chronic Anterior Uveitis) AnnotationAssertion( "A course of anterior uveitis lasting more than a few months."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004960"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Anterior Uveitis"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 73) AnnotationAssertion(Annotation( "MIM:619878"^^xsd:string) "Characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest. Caused by homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-12T09:23:53Z"^^xsd:string) AnnotationAssertion( "MIM:619878"^^xsd:string) AnnotationAssertion( "SPGF73"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004961"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 73"^^xsd:string) SubClassOf( ) # Class: (Capsule Opacification) AnnotationAssertion(Annotation( "MESH:D058442"^^xsd:string) "Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction."^^xsd:string) AnnotationAssertion( "MESH:D058442"^^xsd:string) AnnotationAssertion( "Capsule Opacifications"^^xsd:string) AnnotationAssertion( "Secondary Cataract"^^xsd:string) AnnotationAssertion( "Secondary Cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004962"^^xsd:string) AnnotationAssertion(rdfs:label "Capsule Opacification"^^xsd:string) SubClassOf( ) # Class: (Hematemesis) AnnotationAssertion(Annotation( "MESH:D006396"^^xsd:string) "Vomiting of blood that is either fresh bright red, or older 'coffee-ground' in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT."^^xsd:string) AnnotationAssertion( "MESH:D006396"^^xsd:string) AnnotationAssertion( "Hematemeses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004963"^^xsd:string) AnnotationAssertion(rdfs:label "Hematemesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Referred Pain) AnnotationAssertion(Annotation( "MESH:D053591"^^xsd:string) "A type of pain that is perceived in an area away from the site where the pain arises, such as facial pain caused by lesion of the VAGUS NERVE, or throat problem generating referred pain in the ear."^^xsd:string) AnnotationAssertion( "MESH:D053591"^^xsd:string) AnnotationAssertion( "Referred Facial Pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004964"^^xsd:string) AnnotationAssertion(rdfs:label "Referred Pain"^^xsd:string) SubClassOf( ) # Class: (opiate withdrawal syndrome) AnnotationAssertion(Annotation( "NCI:C98998"^^xsd:string) "This disorder is defined by signs and symptoms related to abrupt or gradual stoppage of opiate use. The signs and symptoms include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-27T16:46:48Z"^^xsd:string) AnnotationAssertion( "narcotic withdrawal syndrome"^^xsd:string) AnnotationAssertion( "opiate withdrawal disorder"^^xsd:string) AnnotationAssertion( "opioid withdrawal syndrome"^^xsd:string) AnnotationAssertion( "heroin withdrawal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004965"^^xsd:string) AnnotationAssertion(rdfs:label "opiate withdrawal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Complex Cortical Dysplasia with Other Brain Malformations 12) AnnotationAssertion(Annotation( "MIM:620316"^^xsd:string) "This disease is an autosomal recessive disorder of developmental neuronal migration characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features. Caused by homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-10T08:59:42Z"^^xsd:string) AnnotationAssertion( "MIM:620316"^^xsd:string) AnnotationAssertion( "CAMSAP1-RELATED NEURONAL MIGRATION DISORDER"^^xsd:string) AnnotationAssertion( "CDCBM12"^^xsd:string) AnnotationAssertion( "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004966"^^xsd:string) AnnotationAssertion(rdfs:label "Complex Cortical Dysplasia with Other Brain Malformations 12"^^xsd:string) SubClassOf( ) # Class: (IGHM Protein, Human) AnnotationAssertion( "MESH:C041229"^^xsd:string) AnnotationAssertion( "RDO:0000004"^^xsd:string) AnnotationAssertion( "BOT heavy chain disease protein, human"^^xsd:string) AnnotationAssertion( "immunoglobulin heavy constant mu protein, human"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004967"^^xsd:string) AnnotationAssertion(rdfs:label "IGHM Protein, Human"^^xsd:string) SubClassOf( ) # Class: (Yin Deficiency) AnnotationAssertion(Annotation( "MESH:D016710"^^xsd:string) "In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979)."^^xsd:string) AnnotationAssertion( "MESH:D016710"^^xsd:string) AnnotationAssertion( "Yin Deficiencies"^^xsd:string) AnnotationAssertion( "Yin Hsu"^^xsd:string) AnnotationAssertion( "Yin Xu"^^xsd:string) AnnotationAssertion( "Yinxu"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004968"^^xsd:string) AnnotationAssertion(rdfs:label "Yin Deficiency"^^xsd:string) SubClassOf( ) # Class: (Neoplasm Recurrence, Local) AnnotationAssertion(Annotation( "MESH:D009364"^^xsd:string) "The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site."^^xsd:string) AnnotationAssertion( "MESH:D009364"^^xsd:string) AnnotationAssertion( "RDO:0006193"^^xsd:string) AnnotationAssertion( "Local Neoplasm Recurrences"^^xsd:string) AnnotationAssertion( "Locoregional Neoplasm Recurrence"^^xsd:string) AnnotationAssertion( "Locoregional Neoplasm Recurrences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004969"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm Recurrence, Local"^^xsd:string) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-31T19:43:11Z"^^xsd:string) AnnotationAssertion( "MIM:179800"^^xsd:string) AnnotationAssertion( "Gradient Type RTA"^^xsd:string) AnnotationAssertion( "autosomal dominant distal renal tubular acidosis"^^xsd:string) AnnotationAssertion( "autosomal dominant renal tubular acidosis"^^xsd:string) AnnotationAssertion( "classic distal renal tubular acidosis"^^xsd:string) AnnotationAssertion( "classic type RTA"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis, dominant"^^xsd:string) AnnotationAssertion( "distal type RTA, autosomal dominant"^^xsd:string) AnnotationAssertion( "renal tubular acidosis 1"^^xsd:string) AnnotationAssertion( "renal tubular acidosis I"^^xsd:string) AnnotationAssertion( "type I renal tubular acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004970"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis 1"^^xsd:string) SubClassOf( ) # Class: (Right Ventricle Hypoplasia) AnnotationAssertion( "MIM:277200"^^xsd:string) AnnotationAssertion( "MESH:C535682"^^xsd:string) AnnotationAssertion( "Isolated hypoplasia of the right ventricle"^^xsd:string) AnnotationAssertion( "Isolated right ventricular hypoplasia"^^xsd:string) AnnotationAssertion( "hypoplasia of the right ventricle"^^xsd:string) AnnotationAssertion( "right ventricular hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004971"^^xsd:string) AnnotationAssertion(rdfs:label "Right Ventricle Hypoplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction) AnnotationAssertion( "MIM:601389"^^xsd:string) AnnotationAssertion( "MESH:C538072"^^xsd:string) AnnotationAssertion( "Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction"^^xsd:string) AnnotationAssertion( "Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004973"^^xsd:string) AnnotationAssertion(rdfs:label "Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Painful Neuropathy) AnnotationAssertion( "MIM:256870"^^xsd:string) AnnotationAssertion( "MESH:C564945"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004974"^^xsd:string) AnnotationAssertion(rdfs:label "Painful Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sacral Agenesis with Vertebral Anomalies) AnnotationAssertion( "MIM:615709"^^xsd:string) AnnotationAssertion( "RDO:9001035"^^xsd:string) AnnotationAssertion( "SAVA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004975"^^xsd:string) AnnotationAssertion(rdfs:label "Sacral Agenesis with Vertebral Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peters Anomaly with Cataract) AnnotationAssertion( "MESH:C537885"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004976"^^xsd:string) AnnotationAssertion(rdfs:label "Peters Anomaly with Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coxoauricular Syndrome) AnnotationAssertion( "MIM:122780"^^xsd:string) AnnotationAssertion( "MESH:C565148"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004977"^^xsd:string) AnnotationAssertion(rdfs:label "Coxoauricular Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Preaxial Polydactyly I) AnnotationAssertion( "Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I (PPD1), 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations. PPD1 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)"^^xsd:string) AnnotationAssertion( "THENAR HYPOPLASIA"^^xsd:string) AnnotationAssertion( "MESH:C536332"^^xsd:string) AnnotationAssertion( "MIM:174400"^^xsd:string) AnnotationAssertion( "PPD1"^^xsd:string) AnnotationAssertion( "Thumb polydactyly"^^xsd:string) AnnotationAssertion( "preaxial polydactyly type 1"^^xsd:string) AnnotationAssertion( "Fromont Anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004978"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Polydactyly I"^^xsd:string) SubClassOf( ) # Class: (Knee Dislocation) AnnotationAssertion(Annotation( "MESH:D031221"^^xsd:string) "Slippage of the FEMUR off the TIBIA."^^xsd:string) AnnotationAssertion( "MESH:D031221"^^xsd:string) AnnotationAssertion( "MONDO:0017470"^^xsd:string) AnnotationAssertion( "Knee Dislocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "congenital knee dislocation"^^xsd:string) AnnotationAssertion( "DOID:9004979"^^xsd:string) AnnotationAssertion(rdfs:label "Knee Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronobiology Disorders) AnnotationAssertion(Annotation( "MESH:D021081"^^xsd:string) "Disruptions of the rhythmic cycle of bodily functions or activities."^^xsd:string) AnnotationAssertion( "MESH:D021081"^^xsd:string) AnnotationAssertion( "RDO:0007327"^^xsd:string) AnnotationAssertion( "Biological Clock Disturbance"^^xsd:string) AnnotationAssertion( "Biological Clock Disturbances"^^xsd:string) AnnotationAssertion( "Chronobiology Disorder"^^xsd:string) AnnotationAssertion( "Circadian Dysregulation"^^xsd:string) AnnotationAssertion( "Circadian Rhythm Disorder"^^xsd:string) AnnotationAssertion( "Circadian Rhythm Disorders"^^xsd:string) AnnotationAssertion( "Psychogenic Inversion of Circadian Rhythm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004980"^^xsd:string) AnnotationAssertion(rdfs:label "Chronobiology Disorders"^^xsd:string) SubClassOf( ) # Class: (Kantaputra Gorlin Syndrome) AnnotationAssertion( "MESH:C535547"^^xsd:string) AnnotationAssertion( "MIM:156232"^^xsd:string) AnnotationAssertion( "MONDO:0007977"^^xsd:string) AnnotationAssertion( "MDK"^^xsd:string) AnnotationAssertion( "MMDK"^^xsd:string) AnnotationAssertion( "Mesomelic dysplasia with ankle, carpal, and tarsal synostosis"^^xsd:string) AnnotationAssertion( "Mesomelic dysplasia, Kantaputra type"^^xsd:string) AnnotationAssertion( "Mesomelic dysplasia, Thai type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004981"^^xsd:string) AnnotationAssertion(rdfs:label "Kantaputra Gorlin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Vesicoureteral Reflux) AnnotationAssertion( "MIM:314550"^^xsd:string) AnnotationAssertion( "MESH:C564042"^^xsd:string) AnnotationAssertion( "VURX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004982"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Vesicoureteral Reflux"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fetal Inflammatory Response Syndrome) AnnotationAssertion( "A condition characterized by systemic inflammation and an elevation of fetal plasma interleukin-6. (PMID:17762416)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C000719624"^^xsd:string) AnnotationAssertion( "FIRS"^^xsd:string) AnnotationAssertion( "FIRS fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "LPS-induced FIRS"^^xsd:string) AnnotationAssertion( "LPS-induced fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "chorioamnionitis-induced FIRS"^^xsd:string) AnnotationAssertion( "chorioamnionitis-induced fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "fetal sepsis-induced fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "lipopolysaccharide-induced fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "sepsis-induced FIRS"^^xsd:string) AnnotationAssertion( "sepsis-induced fetal inflammatory response syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004983"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Inflammatory Response Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Uterine Prolapse) AnnotationAssertion(Annotation( "MESH:D014596"^^xsd:string) "Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice."^^xsd:string) AnnotationAssertion( "EFO:1001864"^^xsd:string) AnnotationAssertion( "MESH:D014596"^^xsd:string) AnnotationAssertion( "Uterine Prolapses"^^xsd:string) AnnotationAssertion( "Vaginal Prolapse"^^xsd:string) AnnotationAssertion( "Vaginal Prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004984"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Animal Diseases) AnnotationAssertion(Annotation( "MESH:D000820"^^xsd:string) "Diseases that occur in VERTEBRATE animals."^^xsd:string) AnnotationAssertion( "EFO:0005932"^^xsd:string) AnnotationAssertion( "MESH:D000820"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004985"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Animal Diseases"^^xsd:string) SubClassOf( ) # Class: (Ackerman Syndrome) AnnotationAssertion( "MIM:200970"^^xsd:string) AnnotationAssertion( "MESH:C538170"^^xsd:string) AnnotationAssertion( "juvenile glaucoma with unusual upper lip and dental roots"^^xsd:string) AnnotationAssertion( "pyramidal molar roots with juvenile glaucoma and unusual upper lip"^^xsd:string) AnnotationAssertion( "pyramidal molars, glaucoma, abnormal upper lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004986"^^xsd:string) AnnotationAssertion(rdfs:label "Ackerman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neuroticism) AnnotationAssertion( "MESH:C564323"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004987"^^xsd:string) AnnotationAssertion(rdfs:label "Neuroticism"^^xsd:string) SubClassOf( ) # Class: (Uterine Adenosarcoma) AnnotationAssertion( "RDO:0004185"^^xsd:string) AnnotationAssertion( "MESH:C538232"^^xsd:string) AnnotationAssertion( "Mullerian adenosarcoma of the uterus"^^xsd:string) AnnotationAssertion( "adenosarcoma of the uterus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004988"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Adenosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Protein Deficiency) AnnotationAssertion(Annotation( "MESH:D011488"^^xsd:string) "A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406)"^^xsd:string) AnnotationAssertion( "MESH:D011488"^^xsd:string) AnnotationAssertion( "Protein Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004989"^^xsd:string) AnnotationAssertion(rdfs:label "Protein Deficiency"^^xsd:string) SubClassOf( ) # Class: (Rodent Diseases) AnnotationAssertion(Annotation( "MESH:D012376"^^xsd:string) "Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)."^^xsd:string) AnnotationAssertion( "MESH:D012376"^^xsd:string) AnnotationAssertion( "Rodent Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004990"^^xsd:string) AnnotationAssertion(rdfs:label "Rodent Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Apnea) AnnotationAssertion(Annotation( "MESH:D001049"^^xsd:string) "A transient absence of spontaneous respiration."^^xsd:string) AnnotationAssertion( "MESH:D001049"^^xsd:string) AnnotationAssertion( "RDO:0001052"^^xsd:string) AnnotationAssertion( "Apneas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004992"^^xsd:string) AnnotationAssertion(rdfs:label "Apnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Embryo Loss) AnnotationAssertion(Annotation( "MESH:D020964"^^xsd:string) "Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization."^^xsd:string) AnnotationAssertion( "MESH:D020964"^^xsd:string) AnnotationAssertion( "Disintegration of Embryo"^^xsd:string) AnnotationAssertion( "Embryo Death"^^xsd:string) AnnotationAssertion( "Embryo Deaths"^^xsd:string) AnnotationAssertion( "Embryo Disintegration"^^xsd:string) AnnotationAssertion( "PREMBL"^^xsd:string) AnnotationAssertion( "blastocyst disintegration"^^xsd:string) AnnotationAssertion( "disintegration of blastocyst"^^xsd:string) AnnotationAssertion( "embryo resorption"^^xsd:string) AnnotationAssertion( "preimplantation embryonic lethality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004994"^^xsd:string) AnnotationAssertion(rdfs:label "Embryo Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Baker Vinters Syndrome) AnnotationAssertion( "MESH:C537899"^^xsd:string) AnnotationAssertion( "Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004995"^^xsd:string) AnnotationAssertion(rdfs:label "Baker Vinters Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infantile-Onset Limb and Orofacial Dyskinesia) AnnotationAssertion( "An autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616921"^^xsd:string) AnnotationAssertion( "IOLOD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004996"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile-Onset Limb and Orofacial Dyskinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pediatric Adrenocortical Carcinoma) AnnotationAssertion( "RDO:0014469"^^xsd:string) AnnotationAssertion( "MESH:C565973"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004997"^^xsd:string) AnnotationAssertion(rdfs:label "Pediatric Adrenocortical Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Kyphoscoliosis) AnnotationAssertion( "A deformity of growth resulting in backward and lateral curvature of the spine."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:610170"^^xsd:string) AnnotationAssertion( "MESH:C565711"^^xsd:string) AnnotationAssertion( "KYPSC1"^^xsd:string) AnnotationAssertion( "kyphoscoliosis 1"^^xsd:string) AnnotationAssertion( "kyphoscoliosis deformity of spine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004998"^^xsd:string) AnnotationAssertion(rdfs:label "Kyphoscoliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-07T12:45:07Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9004999"^^xsd:string) AnnotationAssertion(rdfs:label "APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS"^^xsd:string) SubClassOf( ) # Class: (Gallbladder Disease 4) AnnotationAssertion( "MIM:611465"^^xsd:string) AnnotationAssertion( "ABCG8-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566936"^^xsd:string) AnnotationAssertion( "GBD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005000"^^xsd:string) AnnotationAssertion(rdfs:label "Gallbladder Disease 4"^^xsd:string) SubClassOf( ) # Class: (Congenital Neuromuscular Disease, with Uniform Type 1 Fiber) AnnotationAssertion( "RDO:0015310"^^xsd:string) AnnotationAssertion( "MESH:C567162"^^xsd:string) AnnotationAssertion( "CNMDU1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005001"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Neuromuscular Disease, with Uniform Type 1 Fiber"^^xsd:string) SubClassOf( ) # Class: (Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction) AnnotationAssertion( "MIM:601075"^^xsd:string) AnnotationAssertion( "MESH:C563394"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005002"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density) AnnotationAssertion( "MIM:601376"^^xsd:string) AnnotationAssertion( "MESH:C563330"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005003"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density"^^xsd:string) SubClassOf( ) # Class: (Musculoskeletal Abnormalities) AnnotationAssertion(Annotation( "MESH:D009139"^^xsd:string) "Congenital structural abnormalities and deformities of the musculoskeletal system."^^xsd:string) AnnotationAssertion( "MESH:D009139"^^xsd:string) AnnotationAssertion( "Musculoskeletal Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005004"^^xsd:string) AnnotationAssertion(rdfs:label "Musculoskeletal Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oral Ulcer) AnnotationAssertion(Annotation( "MESH:D019226"^^xsd:string) "A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)"^^xsd:string) AnnotationAssertion( "MESH:D019226"^^xsd:string) AnnotationAssertion( "Mouth Ulcer"^^xsd:string) AnnotationAssertion( "Mouth Ulcers"^^xsd:string) AnnotationAssertion( "Oral Ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005005"^^xsd:string) AnnotationAssertion(rdfs:label "Oral Ulcer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Melanoma-Pancreatic Cancer Syndrome) AnnotationAssertion( "MIM:606719"^^xsd:string) AnnotationAssertion( "MESH:C563985"^^xsd:string) AnnotationAssertion( "FAMMMPC"^^xsd:string) AnnotationAssertion( "FAMMMPC Syndrome"^^xsd:string) AnnotationAssertion( "Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005006"^^xsd:string) AnnotationAssertion(rdfs:label "Melanoma-Pancreatic Cancer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thyroxine-Binding Globulin Deficiency) AnnotationAssertion( "RDO:0013142"^^xsd:string) AnnotationAssertion( "MESH:C564049"^^xsd:string) AnnotationAssertion( "THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE"^^xsd:string) AnnotationAssertion( "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005007"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroxine-Binding Globulin Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Thrombocytopenia 6) AnnotationAssertion( "An autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616937"^^xsd:string) AnnotationAssertion( "THC6"^^xsd:string) AnnotationAssertion( "autosomal dominant thrombocytopenia-6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005009"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 6"^^xsd:string) SubClassOf( ) # Class: (Partial Lissencephaly) AnnotationAssertion( "MESH:C536298"^^xsd:string) AnnotationAssertion( "Focal agyria pachygyria"^^xsd:string) AnnotationAssertion( "Incomplete lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005010"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Lissencephaly"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Calcific Pancreatitis) AnnotationAssertion( "MESH:C566837"^^xsd:string) AnnotationAssertion( "calcific chronic pancreatitis"^^xsd:string) AnnotationAssertion( "chronic calcifying pancreatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005013"^^xsd:string) AnnotationAssertion(rdfs:label "Calcific Pancreatitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618917"^^xsd:string) "A disease characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-11-09T17:52:55Z"^^xsd:string) AnnotationAssertion( "MIM:618917"^^xsd:string) AnnotationAssertion( "NEDLIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005015"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hunter Carpenter Macdonald Syndrome) AnnotationAssertion( "MESH:C536071"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005016"^^xsd:string) AnnotationAssertion(rdfs:label "Hunter Carpenter Macdonald Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Angioedema 4) AnnotationAssertion( "An autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Caused by heterozygous mutation in the PLG gene on chromosome 6q26. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T12:04:57Z"^^xsd:string) AnnotationAssertion( "PLG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619360"^^xsd:string) AnnotationAssertion( "HAE4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005017"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angioedema 4"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group J) AnnotationAssertion( "MESH:C563965"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005018"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group J"^^xsd:string) SubClassOf( ) # Class: (JABERI-ELAHI SYNDROME) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T12:49:04Z"^^xsd:string) AnnotationAssertion( "MIM:617988"^^xsd:string) AnnotationAssertion( "JABELS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005019"^^xsd:string) AnnotationAssertion(rdfs:label "JABERI-ELAHI SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Brain Contusion) AnnotationAssertion(Annotation( "MESH:D000070624"^^xsd:string) "A bruise of the brain from an impact of the skull."^^xsd:string) AnnotationAssertion( "MESH:D000070624"^^xsd:string) AnnotationAssertion( "Brain Contusions"^^xsd:string) AnnotationAssertion( "Cerebellar Contusion"^^xsd:string) AnnotationAssertion( "Cerebellar Contusions"^^xsd:string) AnnotationAssertion( "Cerebral Contusion"^^xsd:string) AnnotationAssertion( "Cerebral Contusions"^^xsd:string) AnnotationAssertion( "Contusio Cerebri"^^xsd:string) AnnotationAssertion( "Cortical Contusion"^^xsd:string) AnnotationAssertion( "Cortical Contusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005020"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Contusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Verloes Van Maldergem Marneffe Syndrome) AnnotationAssertion( "MIM:157151"^^xsd:string) AnnotationAssertion( "MESH:C536540"^^xsd:string) AnnotationAssertion( "Dominantly inherited bone dysplasia with severe eye involvement"^^xsd:string) AnnotationAssertion( "Microspherophakia-metaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005021"^^xsd:string) AnnotationAssertion(rdfs:label "Verloes Van Maldergem Marneffe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multiple Exostoses Type III) AnnotationAssertion( "MIM:600209"^^xsd:string) AnnotationAssertion( "RDO:0013086"^^xsd:string) AnnotationAssertion( "MESH:C563975"^^xsd:string) AnnotationAssertion( "EXT3"^^xsd:string) AnnotationAssertion( "hereditary multiple exostoses 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005022"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Exostoses Type III"^^xsd:string) SubClassOf( ) # Class: (Hereditary Sclerosing Poikiloderma) AnnotationAssertion( "MIM:173700"^^xsd:string) AnnotationAssertion( "MESH:C562824"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005023"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Sclerosing Poikiloderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Adrenocortical Carcinoma) AnnotationAssertion( "MIM:202300"^^xsd:string) AnnotationAssertion( "RDO:0014468"^^xsd:string) AnnotationAssertion( "MESH:C565972"^^xsd:string) AnnotationAssertion( "ADCC"^^xsd:string) AnnotationAssertion( "ADRENOCORTICAL CARCINOMA, PEDIATRIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005024"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Adrenocortical Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Coloboma 2) AnnotationAssertion( "MIM:605738"^^xsd:string) AnnotationAssertion( "MESH:C565300"^^xsd:string) AnnotationAssertion( "MCOPCB2"^^xsd:string) AnnotationAssertion( "Microphthalmia, Colobomatous, Isolated 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005025"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma 2"^^xsd:string) SubClassOf( ) # Class: (Foot Rot) AnnotationAssertion(Annotation( "MESH:D005535"^^xsd:string) "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)"^^xsd:string) AnnotationAssertion( "MESH:D005535"^^xsd:string) AnnotationAssertion( "Foot Rots"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005026"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Rot"^^xsd:string) SubClassOf( ) # Class: (Waardenburg Syndrome Type 4) AnnotationAssertion( "MESH:C536467"^^xsd:string) AnnotationAssertion( "NCI:C124842"^^xsd:string) AnnotationAssertion( "ORDO:897"^^xsd:string) AnnotationAssertion( "Hirschsprung disease with pigmentary anomaly"^^xsd:string) AnnotationAssertion( "Shah-Waardenburg syndrome"^^xsd:string) AnnotationAssertion( "WS4"^^xsd:string) AnnotationAssertion( "Waardenburg-Hirschsprung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005027"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg Syndrome Type 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-03T14:46:29Z"^^xsd:string) AnnotationAssertion( "MIM:618550"^^xsd:string) AnnotationAssertion( "OOMD7"^^xsd:string) AnnotationAssertion( "OZEMA7"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005028"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 7"^^xsd:string) SubClassOf( ) # Class: (Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate) AnnotationAssertion( "MIM:129810"^^xsd:string) AnnotationAssertion( "MESH:C565065"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005029"^^xsd:string) AnnotationAssertion(rdfs:label "Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 2B, Severe) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:41:32Z"^^xsd:string) AnnotationAssertion( "MIM:619784"^^xsd:string) AnnotationAssertion( "JEB2B"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 2B, Generalized Severe"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 2B, Herlitz Type"^^xsd:string) AnnotationAssertion( "severe junctional epidermolysis bullosa 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005030"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 2B, Severe"^^xsd:string) SubClassOf( ) # Class: (Liddle Syndrome 1) AnnotationAssertion( "An autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:177200"^^xsd:string) AnnotationAssertion( "LIDLS1"^^xsd:string) AnnotationAssertion( "PSEUDOHYPERALDOSTERONISM"^^xsd:string) AnnotationAssertion( "PSEUDOPRIMARY HYPERALDOSTERONISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005031"^^xsd:string) AnnotationAssertion(rdfs:label "Liddle Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Olivopontocerebellar Atrophy 3) AnnotationAssertion( "MESH:C538631"^^xsd:string) AnnotationAssertion( "RDO:0004555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005032"^^xsd:string) AnnotationAssertion(rdfs:label "Olivopontocerebellar Atrophy 3"^^xsd:string) SubClassOf( ) # Class: (Leri Pleonosteosis) AnnotationAssertion( "MIM:151200"^^xsd:string) AnnotationAssertion( "MESH:C537118"^^xsd:string) AnnotationAssertion( "CHROMOSOME 8q22.1 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "Leri pleonosteosis chromosome duplication syndrome"^^xsd:string) AnnotationAssertion( "Leri type pleonosteosis"^^xsd:string) AnnotationAssertion( "Leri's pleonosteosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005033"^^xsd:string) AnnotationAssertion(rdfs:label "Leri Pleonosteosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy) AnnotationAssertion( "MIM:182690"^^xsd:string) AnnotationAssertion( "MESH:C566682"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005034"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bacteremia) AnnotationAssertion(Annotation( "MESH:D016470"^^xsd:string) "The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion."^^xsd:string) AnnotationAssertion( "MIM:614382"^^xsd:string) AnnotationAssertion( "MIM:614383"^^xsd:string) AnnotationAssertion( "EFO:0003033"^^xsd:string) AnnotationAssertion( "EFO:0009087"^^xsd:string) AnnotationAssertion( "MESH:D016470"^^xsd:string) AnnotationAssertion( "BACTS1"^^xsd:string) AnnotationAssertion( "BACTS2"^^xsd:string) AnnotationAssertion( "Bacteremias"^^xsd:string) AnnotationAssertion( "bacteriemia"^^xsd:string) AnnotationAssertion( "non-typhoidal Salmonella bacteremia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Bacteremia, Resistance To"^^xsd:string) AnnotationAssertion( "bacteremia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "bacteremia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:9005036"^^xsd:string) AnnotationAssertion(rdfs:label "Bacteremia"^^xsd:string) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Pituitary Dwarfism with Large Sella Turcica) AnnotationAssertion( "MIM:262710"^^xsd:string) AnnotationAssertion( "MESH:C562705"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005037"^^xsd:string) AnnotationAssertion(rdfs:label "Pituitary Dwarfism with Large Sella Turcica"^^xsd:string) SubClassOf( ) # Class: (Pelvic Girdle Pain) AnnotationAssertion(Annotation( "MESH:D059388"^^xsd:string) "Discomfort associated with the bones that make up the pelvic girdle. It occurs frequently during pregnancy."^^xsd:string) AnnotationAssertion( "MESH:D059388"^^xsd:string) AnnotationAssertion( "RDO:0010015"^^xsd:string) AnnotationAssertion( "Pelvic Girdle Pains"^^xsd:string) AnnotationAssertion( "Symphysis Pubis Dysfunction"^^xsd:string) AnnotationAssertion( "Symphysis Pubis Dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005038"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Girdle Pain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fatal Fetal Cardiomyopathy due to Myocardial Calcification) AnnotationAssertion( "MIM:300829"^^xsd:string) AnnotationAssertion( "MESH:C543241"^^xsd:string) AnnotationAssertion( "Myocardial calcifications resulting in intrauterine fetal death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005039"^^xsd:string) AnnotationAssertion(rdfs:label "Fatal Fetal Cardiomyopathy due to Myocardial Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hand Osteoarthritis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000789"^^xsd:string) AnnotationAssertion( "RDO:9001106"^^xsd:string) AnnotationAssertion( "Degenerative joint disease of hand"^^xsd:string) AnnotationAssertion( "Osteoarthritis - hand joint"^^xsd:string) AnnotationAssertion( "Osteoarthrosis of hand"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005040"^^xsd:string) AnnotationAssertion(rdfs:label "Hand Osteoarthritis"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Coloboma 3) AnnotationAssertion( "MIM:610092"^^xsd:string) AnnotationAssertion( "VSX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C566447"^^xsd:string) AnnotationAssertion( "MCOPCB3"^^xsd:string) AnnotationAssertion( "Microphthalmia, Colobomatous, Isolated 3"^^xsd:string) AnnotationAssertion( "MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005041"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma 3"^^xsd:string) SubClassOf( ) # Class: (Familial Persistent Stuttering 3) AnnotationAssertion( "MIM:614655"^^xsd:string) AnnotationAssertion( "STUT3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005042"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Persistent Stuttering 3"^^xsd:string) SubClassOf( ) # Class: (Alpha-Mannosidosis, Type 3) AnnotationAssertion( "A severe form manifested as pregnancy loss or early death from progressive central nervous system involvement. (GARD)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005043"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Mannosidosis, Type 3"^^xsd:string) SubClassOf( ) # Class: (Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1) AnnotationAssertion( "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617660"^^xsd:string) AnnotationAssertion( "3-HYDROXYANTHRANILIC ACIDEMIA"^^xsd:string) AnnotationAssertion( "VCRL1"^^xsd:string) AnnotationAssertion( "congenital NAD deficiency disorder 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005044"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia, Mental Retardation, Syndactyly) AnnotationAssertion( "MIM:600906"^^xsd:string) AnnotationAssertion( "MESH:C538018"^^xsd:string) AnnotationAssertion( "Ectodermal dysplasia with mental retardation and syndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005045"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia, Mental Retardation, Syndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypercalciuria, Absorptive, 2) AnnotationAssertion( "MIM:143870"^^xsd:string) AnnotationAssertion( "MESH:C562790"^^xsd:string) AnnotationAssertion( "ADCY10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HCA2"^^xsd:string) AnnotationAssertion( "familial idiopathic hypercalciuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hypercalciuria, absorptive, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9005047"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalciuria, Absorptive, 2"^^xsd:string) SubClassOf( ) # Class: (Cataract, Crystalline Coralliform) AnnotationAssertion( "MESH:C566161"^^xsd:string) AnnotationAssertion( "RDO:0014600"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005048"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Crystalline Coralliform"^^xsd:string) SubClassOf( ) # Class: (Gastric Sneezing) AnnotationAssertion( "MIM:137130"^^xsd:string) AnnotationAssertion( "MESH:C564990"^^xsd:string) AnnotationAssertion( "Stomach Sneeze Reflex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005049"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Sneezing"^^xsd:string) SubClassOf( ) # Class: (Tapetoretinal Degeneration with Ataxia) AnnotationAssertion( "MIM:272600"^^xsd:string) AnnotationAssertion( "MESH:C564788"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005050"^^xsd:string) AnnotationAssertion(rdfs:label "Tapetoretinal Degeneration with Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Monosomy 5p) AnnotationAssertion( "MESH:C538482"^^xsd:string) AnnotationAssertion( "ORDO:281"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005051"^^xsd:string) AnnotationAssertion(rdfs:label "Monosomy 5p"^^xsd:string) SubClassOf( ) # Class: (Accessory Deep Peroneal Nerve) AnnotationAssertion( "MIM:170980"^^xsd:string) AnnotationAssertion( "MESH:C536001"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005052"^^xsd:string) AnnotationAssertion(rdfs:label "Accessory Deep Peroneal Nerve"^^xsd:string) SubClassOf( ) # Class: (Hyperostosis Cranialis Interna) AnnotationAssertion( "MIM:144755"^^xsd:string) AnnotationAssertion( "SLC39A14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564168"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005053"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperostosis Cranialis Interna"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypertrophia Musculorum Vera) AnnotationAssertion( "MIM:145800"^^xsd:string) AnnotationAssertion( "MESH:C564152"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005054"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophia Musculorum Vera"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618922"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-11-09T18:07:45Z"^^xsd:string) AnnotationAssertion( "MIM:618922"^^xsd:string) AnnotationAssertion( "NEDSHBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005055"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glucoglycinuria) AnnotationAssertion( "MIM:138070"^^xsd:string) AnnotationAssertion( "MESH:C562670"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005056"^^xsd:string) AnnotationAssertion(rdfs:label "Glucoglycinuria"^^xsd:string) SubClassOf( ) # Class: (Necrobiotic Disorders) AnnotationAssertion(Annotation( "MESH:D017441"^^xsd:string) "A group of disorders characterized by swelling, basophilia, and distortion of collagen bundles in the dermis."^^xsd:string) AnnotationAssertion( "MESH:D017441"^^xsd:string) AnnotationAssertion( "Necrobioses"^^xsd:string) AnnotationAssertion( "Necrobiosis"^^xsd:string) AnnotationAssertion( "Necrobiotic Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005057"^^xsd:string) AnnotationAssertion(rdfs:label "Necrobiotic Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Membranous Obstruction of Inferior Vena Cava) AnnotationAssertion( "RDO:0012475"^^xsd:string) AnnotationAssertion( "MESH:C563013"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005058"^^xsd:string) AnnotationAssertion(rdfs:label "Membranous Obstruction of Inferior Vena Cava"^^xsd:string) SubClassOf( ) # Class: (Hypertelorism and Tetralogy of Fallot) AnnotationAssertion( "MIM:239711"^^xsd:string) AnnotationAssertion( "MESH:C538386"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005059"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertelorism and Tetralogy of Fallot"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kaplowitz Bodurtha syndrome) AnnotationAssertion( "MESH:C536893"^^xsd:string) AnnotationAssertion( "Congenital hypopituitarism and microphthalmia"^^xsd:string) AnnotationAssertion( "Hypopituitarism microphthalmia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005061"^^xsd:string) AnnotationAssertion(rdfs:label "Kaplowitz Bodurtha syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 1) AnnotationAssertion( "MIM:601518"^^xsd:string) AnnotationAssertion( "HPC1"^^xsd:string) AnnotationAssertion( "PRCA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005062"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 1"^^xsd:string) SubClassOf( ) # Class: (HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1) AnnotationAssertion( "A disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:9001599"^^xsd:string) AnnotationAssertion( "MIM:616418"^^xsd:string) AnnotationAssertion( "HOMGSMR1"^^xsd:string) AnnotationAssertion( "Hypomagnesemia, Seizures, and Mental Retardation 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HOMGSMR"^^xsd:string) AnnotationAssertion( "DOID:9005063"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist) AnnotationAssertion( "MESH:C564135"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005064"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist"^^xsd:string) SubClassOf( ) # Class: (Leukoplakia) AnnotationAssertion(Annotation( "MESH:D007971"^^xsd:string) "A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES."^^xsd:string) AnnotationAssertion( "MESH:D007971"^^xsd:string) AnnotationAssertion( "Leukokeratoses"^^xsd:string) AnnotationAssertion( "Leukokeratosis"^^xsd:string) AnnotationAssertion( "Leukoplakias"^^xsd:string) AnnotationAssertion( "Leukoplakic Lesion"^^xsd:string) AnnotationAssertion( "Leukoplakic Lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005065"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoplakia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 1, q42 11 q42 12 Duplication) AnnotationAssertion( "MESH:C538082"^^xsd:string) AnnotationAssertion( "RDO:0004016"^^xsd:string) AnnotationAssertion( "Duplication 1q42 11 q42 12"^^xsd:string) AnnotationAssertion( "Trisomy 1q42 11 q42 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005069"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, q42 11 q42 12 Duplication"^^xsd:string) SubClassOf( ) # Class: (Microscopic Polyangiitis) AnnotationAssertion(Annotation( "MESH:D055953"^^xsd:string) "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls."^^xsd:string) AnnotationAssertion( "EFO:1000784"^^xsd:string) AnnotationAssertion( "MESH:D055953"^^xsd:string) AnnotationAssertion( "Microscopic Polyangiitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005070"^^xsd:string) AnnotationAssertion(rdfs:label "Microscopic Polyangiitis"^^xsd:string) SubClassOf( ) # Class: (Kozlowski Brown Hardwick Syndrome) AnnotationAssertion( "GARD:3136"^^xsd:string) AnnotationAssertion( "MESH:C537506"^^xsd:string) AnnotationAssertion( "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005071"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski Brown Hardwick Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Synpolydactyly with Foot Anomalies) AnnotationAssertion( "MESH:C566095"^^xsd:string) AnnotationAssertion( "RDO:0014555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005072"^^xsd:string) AnnotationAssertion(rdfs:label "Synpolydactyly with Foot Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thoracopelvic Dysostosis) AnnotationAssertion( "MIM:187770"^^xsd:string) AnnotationAssertion( "MESH:C566062"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005073"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracopelvic Dysostosis"^^xsd:string) SubClassOf( ) # Class: (Dwarfism Stiff Joint Ocular Abnormalities) AnnotationAssertion( "MIM:127200"^^xsd:string) AnnotationAssertion( "MESH:C535724"^^xsd:string) AnnotationAssertion( "Dwarfism with Stiff Joints and Ocular Abnormalities"^^xsd:string) AnnotationAssertion( "Moore-Federman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005074"^^xsd:string) AnnotationAssertion(rdfs:label "Dwarfism Stiff Joint Ocular Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia and Psychomotor Retardation with or without Seizures) AnnotationAssertion( "An autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616756"^^xsd:string) AnnotationAssertion( "RDO:9001159"^^xsd:string) AnnotationAssertion( "SPPRS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005075"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia and Psychomotor Retardation with or without Seizures"^^xsd:string) SubClassOf( ) # Class: (Cardioauditory Syndrome of Sanchez Cascos) AnnotationAssertion( "MIM:212100"^^xsd:string) AnnotationAssertion( "MESH:C535577"^^xsd:string) AnnotationAssertion( "Sanchez Cascos cardioauditory syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005076"^^xsd:string) AnnotationAssertion(rdfs:label "Cardioauditory Syndrome of Sanchez Cascos"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joint Instability) AnnotationAssertion(Annotation( "MESH:D007593"^^xsd:string) "Lack of stability of a joint or joint prosthesis."^^xsd:string) AnnotationAssertion( "MESH:D007593"^^xsd:string) AnnotationAssertion( "Joint Hypermobility"^^xsd:string) AnnotationAssertion( "Joint Instabilities"^^xsd:string) AnnotationAssertion( "Joint Laxities"^^xsd:string) AnnotationAssertion( "joint hypermobilities"^^xsd:string) AnnotationAssertion( "joint laxity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005077"^^xsd:string) AnnotationAssertion(rdfs:label "Joint Instability"^^xsd:string) SubClassOf( ) # Class: (Congenital Macroglossia) AnnotationAssertion( "MIM:153630"^^xsd:string) AnnotationAssertion( "MESH:C531735"^^xsd:string) AnnotationAssertion( "Enlarged tongue"^^xsd:string) AnnotationAssertion( "Giant tongue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005078"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Macroglossia"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 93) AnnotationAssertion(Annotation( "MIM:620849"^^xsd:string) "A male infertility due to markedly reduced progressive motility caused by multiple morphologic abnormalities of the sperm flagella (MMAF) caused by homozygous mutation in the STK33 gene on chromosome 11p15."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-02T15:21:02Z"^^xsd:string) AnnotationAssertion( "MIM:620849"^^xsd:string) AnnotationAssertion( "SPGF93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005079"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 93"^^xsd:string) SubClassOf( ) # Class: (Ganglion Cysts) AnnotationAssertion(Annotation( "MESH:D045888"^^xsd:string) "Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE."^^xsd:string) AnnotationAssertion( "MESH:D045888"^^xsd:string) AnnotationAssertion( "Ganglion"^^xsd:string) AnnotationAssertion( "Ganglion Cyst"^^xsd:string) AnnotationAssertion( "Ganglionic Cyst"^^xsd:string) AnnotationAssertion( "Ganglionic Cysts"^^xsd:string) AnnotationAssertion( "Ganglions"^^xsd:string) AnnotationAssertion( "Myxoid Cyst"^^xsd:string) AnnotationAssertion( "Myxoid Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005080"^^xsd:string) AnnotationAssertion(rdfs:label "Ganglion Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) AnnotationAssertion( "MESH:C537163"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005081"^^xsd:string) AnnotationAssertion(rdfs:label "Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 4) AnnotationAssertion( "MIM:300537"^^xsd:string) AnnotationAssertion( "RDO:0013438"^^xsd:string) AnnotationAssertion( "MESH:C564492"^^xsd:string) AnnotationAssertion( "PVNH4"^^xsd:string) AnnotationAssertion( "Periventricular heterotopia, Ehlers-Danlos variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005082"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kniest Like Dysplasia Lethal) AnnotationAssertion( "MIM:245190"^^xsd:string) AnnotationAssertion( "RDO:0002997"^^xsd:string) AnnotationAssertion( "MESH:C537208"^^xsd:string) AnnotationAssertion( "Arthrosis, flat face, hypotonia, short neck and macrocephaly"^^xsd:string) AnnotationAssertion( "lethal Kniest-like syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005084"^^xsd:string) AnnotationAssertion(rdfs:label "Kniest Like Dysplasia Lethal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Florid Papillomatosis of Nipple) AnnotationAssertion( "MIM:167950"^^xsd:string) AnnotationAssertion( "MESH:C537167"^^xsd:string) AnnotationAssertion( "Florid papillomatosis of the nipple"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005085"^^xsd:string) AnnotationAssertion(rdfs:label "Florid Papillomatosis of Nipple"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Angiomatoid Fibrous Histiocytoma) AnnotationAssertion( "MIM:612160"^^xsd:string) AnnotationAssertion( "MESH:C563181"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005086"^^xsd:string) AnnotationAssertion(rdfs:label "Angiomatoid Fibrous Histiocytoma"^^xsd:string) SubClassOf( ) # Class: (Oxyuriasis) AnnotationAssertion( "Infection with nematodes of the superfamily OXYUROIDEA."^^xsd:string) AnnotationAssertion( "MESH:D010123"^^xsd:string) AnnotationAssertion( "aspiculariases"^^xsd:string) AnnotationAssertion( "aspiculariasis"^^xsd:string) AnnotationAssertion( "oxyuriases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005087"^^xsd:string) AnnotationAssertion(rdfs:label "Oxyuriasis"^^xsd:string) SubClassOf( ) # Class: (Silengo Lerone Pelizza Syndrome) AnnotationAssertion( "MESH:C537336"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005088"^^xsd:string) AnnotationAssertion(rdfs:label "Silengo Lerone Pelizza Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Whyte Murphy Fallon Sly syndrome) AnnotationAssertion( "MESH:C536060"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005089"^^xsd:string) AnnotationAssertion(rdfs:label "Whyte Murphy Fallon Sly syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Post-Lyme Disease Syndrome) AnnotationAssertion( "A condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi resulting in progressive inflammatory neurologic, neuromuscular, and dermatologic manifestations including ENCEPHALITIS; MYELITIS; acrodermatitis chronica atrophicans; and ARTHRITIS."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T13:33:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000077342"^^xsd:string) AnnotationAssertion( "Chronic Lyme Disease"^^xsd:string) AnnotationAssertion( "Post-Treatment Lyme Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005090"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Lyme Disease Syndrome"^^xsd:string) SubClassOf( ) # Class: (Lentivirus Infections) AnnotationAssertion(Annotation( "MESH:D016180"^^xsd:string) "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection."^^xsd:string) AnnotationAssertion( "EFO:1001357"^^xsd:string) AnnotationAssertion( "MESH:D016180"^^xsd:string) AnnotationAssertion( "Lentivirus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005091"^^xsd:string) AnnotationAssertion(rdfs:label "Lentivirus Infections"^^xsd:string) SubClassOf( ) # Class: (Argyria) AnnotationAssertion(Annotation( "MESH:D001129"^^xsd:string) "A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D001129"^^xsd:string) AnnotationAssertion( "Argyrias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005092"^^xsd:string) AnnotationAssertion(rdfs:label "Argyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Hyperbilirubinemia) AnnotationAssertion(Annotation( "MESH:D006933"^^xsd:string) "Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood."^^xsd:string) AnnotationAssertion( "MIM:237450"^^xsd:string) AnnotationAssertion( "RDO:0005293"^^xsd:string) AnnotationAssertion( "RDO:0016141"^^xsd:string) AnnotationAssertion( "MESH:D006933"^^xsd:string) AnnotationAssertion( "HBLRR"^^xsd:string) AnnotationAssertion( "Rotor Syndrome"^^xsd:string) AnnotationAssertion( "SLCO1B3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "hereditary hyperbilirubinemias"^^xsd:string) AnnotationAssertion( "rotor type hyperbilirubinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005094"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hyperbilirubinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Putaminal Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020146"^^xsd:string) "Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness."^^xsd:string) AnnotationAssertion( "MESH:D020146"^^xsd:string) AnnotationAssertion( "RDO:0007317"^^xsd:string) AnnotationAssertion( "Brain Hemorrhage, Putaminal"^^xsd:string) AnnotationAssertion( "Brain Hemorrhages, Putaminal"^^xsd:string) AnnotationAssertion( "Putamen Hemorrhage"^^xsd:string) AnnotationAssertion( "Putaminal Hematoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005095"^^xsd:string) AnnotationAssertion(rdfs:label "Putaminal Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Cystocele) AnnotationAssertion(Annotation( "MESH:D052858"^^xsd:string) "A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM."^^xsd:string) AnnotationAssertion( "MESH:D052858"^^xsd:string) AnnotationAssertion( "Fallen Urinary Bladder"^^xsd:string) AnnotationAssertion( "Urinary Bladder Prolapse"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005096"^^xsd:string) AnnotationAssertion(rdfs:label "Cystocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlipidemia, Combined, 1) AnnotationAssertion( "MIM:602491"^^xsd:string) AnnotationAssertion( "MESH:C566535"^^xsd:string) AnnotationAssertion( "FCHL1"^^xsd:string) AnnotationAssertion( "HYPLIP1"^^xsd:string) AnnotationAssertion( "Hyperlipidemia, Familial Combined, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005097"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipidemia, Combined, 1"^^xsd:string) SubClassOf( ) # Class: (Boerhaave Syndrome) AnnotationAssertion( "MESH:C536571"^^xsd:string) AnnotationAssertion( "Boerhaave's syndrome"^^xsd:string) AnnotationAssertion( "Boerhave syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005098"^^xsd:string) AnnotationAssertion(rdfs:label "Boerhaave Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Salmonella Infections, Animal) AnnotationAssertion(Annotation( "MESH:D012481"^^xsd:string) "Infections in animals with bacteria of the genus SALMONELLA."^^xsd:string) AnnotationAssertion( "MESH:D012481"^^xsd:string) AnnotationAssertion( "RDO:0006519"^^xsd:string) AnnotationAssertion( "Animal Salmonella Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005099"^^xsd:string) AnnotationAssertion(rdfs:label "Salmonella Infections, Animal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aberrant Crypt Foci) AnnotationAssertion(Annotation( "MESH:D058739"^^xsd:string) "Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma."^^xsd:string) AnnotationAssertion( "MESH:D058739"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005100"^^xsd:string) AnnotationAssertion(rdfs:label "Aberrant Crypt Foci"^^xsd:string) SubClassOf( ) # Class: (Carpenter Syndrome 1) AnnotationAssertion( "MIM:201000"^^xsd:string) AnnotationAssertion( "CRPT1"^^xsd:string) AnnotationAssertion( "RAB23-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005101"^^xsd:string) AnnotationAssertion(rdfs:label "Carpenter Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Sexual and Gender Disorders) AnnotationAssertion(Annotation( "MESH:D019968"^^xsd:string) "Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders."^^xsd:string) AnnotationAssertion( "MESH:D019968"^^xsd:string) AnnotationAssertion( "RDO:0006555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005102"^^xsd:string) AnnotationAssertion(rdfs:label "Sexual and Gender Disorders"^^xsd:string) SubClassOf( ) # Class: (Proopiomelanocortin Deficiency) AnnotationAssertion( "An autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. (OMIM)"^^xsd:string) AnnotationAssertion( "MESH:C565726"^^xsd:string) AnnotationAssertion( "MIM:609734"^^xsd:string) AnnotationAssertion( "MONDO:0012335"^^xsd:string) AnnotationAssertion( "OBAIRH"^^xsd:string) AnnotationAssertion( "OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY"^^xsd:string) AnnotationAssertion( "Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair"^^xsd:string) AnnotationAssertion( "POMC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005103"^^xsd:string) AnnotationAssertion(rdfs:label "Proopiomelanocortin Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (B-Cell CLL/Lymphoma 2) AnnotationAssertion( "MIM:151430"^^xsd:string) AnnotationAssertion( "RDO:9000195"^^xsd:string) AnnotationAssertion( "LEUKEMIA/LYMPHOMA, B-CELL, 2"^^xsd:string) AnnotationAssertion( "ONCOGENE B-CELL LEUKEMIA 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005104"^^xsd:string) AnnotationAssertion(rdfs:label "B-Cell CLL/Lymphoma 2"^^xsd:string) SubClassOf( ) # Class: (Adrenal Hyperplasia 2) AnnotationAssertion( "MIM:201810"^^xsd:string) AnnotationAssertion( "RDO:0015855"^^xsd:string) AnnotationAssertion( "MESH:C538236"^^xsd:string) AnnotationAssertion( "MESH:C579862"^^xsd:string) AnnotationAssertion( "RDO:0004189"^^xsd:string) AnnotationAssertion( "3 Beta-Hsd Deficiency"^^xsd:string) AnnotationAssertion( "3 alpha beta-HSD deficiency"^^xsd:string) AnnotationAssertion( "3 alpha beta-hydroxysteroid dehydrogenase deficiency"^^xsd:string) AnnotationAssertion( "3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of"^^xsd:string) AnnotationAssertion( "3 beta-ol Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3-Beta Hydroxysteroid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3b-Hydroxysteroid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "3beta-Hsd Deficiency"^^xsd:string) AnnotationAssertion( "3beta-Hsd Deficiency Congenital Adrenal Hyperplasia"^^xsd:string) AnnotationAssertion( "3beta-Hydroxysteroid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "ADRENAL HYPERPLASIA II"^^xsd:string) AnnotationAssertion( "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "HSDB"^^xsd:string) AnnotationAssertion( "HSDB3"^^xsd:string) AnnotationAssertion( "Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005105"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Hyperplasia 2"^^xsd:string) SubClassOf( ) # Class: (Animal Toxoplasmosis) AnnotationAssertion(Annotation( "MESH:D014124"^^xsd:string) "Acquired infection of non-human animals by organisms of the genus TOXOPLASMA."^^xsd:string) AnnotationAssertion( "MESH:D014124"^^xsd:string) AnnotationAssertion( "animal toxoplasmoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005106"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Toxoplasmosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chylous Ascites) AnnotationAssertion(Annotation( "MESH:D002915"^^xsd:string) "Presence of milky lymph (CHYLE) in the PERITONEAL CAVITY, with or without infection."^^xsd:string) AnnotationAssertion( "MESH:D002915"^^xsd:string) AnnotationAssertion( "Chyloperitoneum"^^xsd:string) AnnotationAssertion( "Chylous Peritonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005107"^^xsd:string) AnnotationAssertion(rdfs:label "Chylous Ascites"^^xsd:string) SubClassOf( ) # Class: (Kallmann Syndrome 2 with Selective Tooth Agenesis) AnnotationAssertion( "MESH:C566948"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005108"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann Syndrome 2 with Selective Tooth Agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anisomastia) AnnotationAssertion( "MIM:605746"^^xsd:string) AnnotationAssertion( "MESH:C565299"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005109"^^xsd:string) AnnotationAssertion(rdfs:label "Anisomastia"^^xsd:string) SubClassOf( ) # Class: (Familial Esophageal Achalasia) AnnotationAssertion( "MIM:200400"^^xsd:string) AnnotationAssertion( "MESH:C536011"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005110"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Esophageal Achalasia"^^xsd:string) SubClassOf( ) # Class: (morphine withdrawal syndrome) AnnotationAssertion(Annotation( "PMID:33727130"^^xsd:string) Annotation( "https://www.drugrehab.com/addiction/prescription-drugs/morphine/withdrawal/"^^xsd:string) "This disorder happens in human morphine-addicted patients after stopping the intake of morphine. Intense symptoms including anxiety, irritability, and various physical manifestations such as sweating, muscle aches, and gastrointestinal disturbances start within 8-12 hours after last intake and lasts 7-10 days. In model organisms such as mice and rats, symptoms of morphine withdrawal include \"wet dog\" shakes, teeth chatter, jumping, and ptosis."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-25T17:18:25Z"^^xsd:string) AnnotationAssertion( "PMID:30689982"^^xsd:string) AnnotationAssertion( "morphine withdrawal disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005111"^^xsd:string) AnnotationAssertion(rdfs:label "morphine withdrawal syndrome"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 113) AnnotationAssertion(Annotation( "MIM:620565"^^xsd:string) "An autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation. Caused by homozygous mutation in the ARPC5 gene on chromosome 1q25."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:15:10Z"^^xsd:string) AnnotationAssertion( "MIM:620565"^^xsd:string) AnnotationAssertion( "IMD113"^^xsd:string) AnnotationAssertion( "Immunodeficiency 133 with autoimmunity and autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005112"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 113"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Intellectual Developmental Disorder 110) AnnotationAssertion(Annotation( "MIM:301095"^^xsd:string) "A disease characterized by moderately to severely impaired intellectual development. Caused by a hemizygous mutation in the FGF13 gene on chromosome Xq26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-19T09:23:43Z"^^xsd:string) AnnotationAssertion( "MIM:301095"^^xsd:string) AnnotationAssertion( "XLID110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005113"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Intellectual Developmental Disorder 110"^^xsd:string) SubClassOf( ) # Class: (Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked) AnnotationAssertion( "MESH:C564571"^^xsd:string) AnnotationAssertion( "Left Ventricular Noncompaction, Isolated, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005114"^^xsd:string) AnnotationAssertion(rdfs:label "Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked"^^xsd:string) SubClassOf( ) # Class: (Urinoma) AnnotationAssertion(Annotation( "MESH:D053584"^^xsd:string) "An encapsulated accumulation of URINE in the retroperitoneal area. It has the appearance of a cyst (CYSTS). Urinoma is usually caused by URETERAL OBSTRUCTION, renal trauma or perforation of the renal collecting system."^^xsd:string) AnnotationAssertion( "MESH:D053584"^^xsd:string) AnnotationAssertion( "RDO:0007626"^^xsd:string) AnnotationAssertion( "Urinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005115"^^xsd:string) AnnotationAssertion(rdfs:label "Urinoma"^^xsd:string) SubClassOf( ) # Class: (Pott Puffy Tumor) AnnotationAssertion(Annotation( "MESH:D059369"^^xsd:string) "Infection of the FRONTAL BONE often as a complication of FRONTAL SINUSITIS or trauma to the frontal bone and skull. It is characterized by subperiosteal abscess with OSTEOMYELITIS."^^xsd:string) AnnotationAssertion( "MESH:D059369"^^xsd:string) AnnotationAssertion( "Pott's Puffy Tumor"^^xsd:string) AnnotationAssertion( "Potts Puffy Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005116"^^xsd:string) AnnotationAssertion(rdfs:label "Pott Puffy Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ladda Zonana Ramer Syndrome) AnnotationAssertion( "MESH:C535465"^^xsd:string) AnnotationAssertion( "MIM:301815"^^xsd:string) AnnotationAssertion( "MESH:C538135"^^xsd:string) AnnotationAssertion( "arthrogryposis, ectodermal dysplasia, cleft lip palate and developmental delay"^^xsd:string) AnnotationAssertion( "congenital contractures, ectodermal dysplasia, cleft lip-palate, and developmental impairment"^^xsd:string) AnnotationAssertion( "contractures, ectodermal dysplasia, cleft lip palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005117"^^xsd:string) AnnotationAssertion(rdfs:label "Ladda Zonana Ramer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypersensitivity Pneumonitis) AnnotationAssertion( "MIM:145300"^^xsd:string) AnnotationAssertion( "MESH:C536846"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005118"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypersensitivity Pneumonitis"^^xsd:string) SubClassOf( ) # Class: (BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA) AnnotationAssertion(Annotation( "MIM:619226"^^xsd:string) "A disease characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-06T17:54:55Z"^^xsd:string) AnnotationAssertion( "MIM:619226"^^xsd:string) AnnotationAssertion( "ABOLM"^^xsd:string) AnnotationAssertion( "acantholytic blistering of the oral and laryngeal mucosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005119"^^xsd:string) AnnotationAssertion(rdfs:label "BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pigmented Nevus) AnnotationAssertion(Annotation( "MESH:D009508"^^xsd:string) "A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi."^^xsd:string) AnnotationAssertion( "EFO:0009676"^^xsd:string) AnnotationAssertion( "MESH:D009508"^^xsd:string) AnnotationAssertion( "Melanocytic Nevi"^^xsd:string) AnnotationAssertion( "Melanocytic Nevus"^^xsd:string) AnnotationAssertion( "Pigmented Moles"^^xsd:string) AnnotationAssertion( "Pigmented Nevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005120"^^xsd:string) AnnotationAssertion(rdfs:label "Pigmented Nevus"^^xsd:string) SubClassOf( ) # Class: (Atonic-Astatic Syndrome of Foerster) AnnotationAssertion( "MIM:209100"^^xsd:string) AnnotationAssertion( "MESH:C565926"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005121"^^xsd:string) AnnotationAssertion(rdfs:label "Atonic-Astatic Syndrome of Foerster"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Baralle-Macken Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T12:56:25Z"^^xsd:string) AnnotationAssertion( "MIM:619255"^^xsd:string) AnnotationAssertion( "BARMACS"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with cataracts and variable microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005123"^^xsd:string) AnnotationAssertion(rdfs:label "Baralle-Macken Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nonpuerperal Galactorrhea) AnnotationAssertion( "MIM:104600"^^xsd:string) AnnotationAssertion( "MESH:C537072"^^xsd:string) AnnotationAssertion( "Ahumada-Del Castillo syndrome"^^xsd:string) AnnotationAssertion( "Amenorrhea-Galactorrhea Syndrome"^^xsd:string) AnnotationAssertion( "Argonz-Ahumada-Del Castillo syndrome"^^xsd:string) AnnotationAssertion( "Argonz-Del Castillo Syndrome"^^xsd:string) AnnotationAssertion( "Forbes Albright syndrome"^^xsd:string) AnnotationAssertion( "Galactorrhea-Amenorrhea without Pregnancy"^^xsd:string) AnnotationAssertion( "amenorrhea-galactorrhea-FSH decrease syndrome"^^xsd:string) AnnotationAssertion( "nonpuerperal galactorrhea-amenorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005124"^^xsd:string) AnnotationAssertion(rdfs:label "Nonpuerperal Galactorrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lupus Vasculitis, Central Nervous System) AnnotationAssertion(Annotation( "MESH:D020945"^^xsd:string) "Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders."^^xsd:string) AnnotationAssertion( "EFO:1001363"^^xsd:string) AnnotationAssertion( "MESH:D020945"^^xsd:string) AnnotationAssertion( "Central Nervous System Lupus"^^xsd:string) AnnotationAssertion( "Central Nervous System Systemic Lupus Erythematosis"^^xsd:string) AnnotationAssertion( "Lupus Meningoencephalitides"^^xsd:string) AnnotationAssertion( "Lupus Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Neuropsychiatric Systemic Lupus Erythematosus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005125"^^xsd:string) AnnotationAssertion(rdfs:label "Lupus Vasculitis, Central Nervous System"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malonic Aciduria) AnnotationAssertion( "MIM:248360"^^xsd:string) AnnotationAssertion( "MESH:C535702"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF MALONYL-COA DECARBOXYLASE"^^xsd:string) AnnotationAssertion( "Malonicaciduria"^^xsd:string) AnnotationAssertion( "Malonyl-CoA decarboxylase deficiency"^^xsd:string) AnnotationAssertion( "Malonyl-Coenzyme A Decarboxylase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005126"^^xsd:string) AnnotationAssertion(rdfs:label "Malonic Aciduria"^^xsd:string) SubClassOf( ) # Class: (germ cell tumor) AnnotationAssertion(Annotation( "NCI:C3708"^^xsd:string) "This is a benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-13T14:41:51Z"^^xsd:string) AnnotationAssertion( "EFO:0000514"^^xsd:string) AnnotationAssertion( "germ cell neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of germ cell"^^xsd:string) AnnotationAssertion( "tumor of germ cell"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005127"^^xsd:string) AnnotationAssertion(rdfs:label "germ cell tumor"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs) AnnotationAssertion( "MIM:601355"^^xsd:string) AnnotationAssertion( "MESH:C563341"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005128"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Transient Neonatal Diabetes Mellitus, 2) AnnotationAssertion( "MIM:610374"^^xsd:string) AnnotationAssertion( "MESH:C563672"^^xsd:string) AnnotationAssertion( "TNDM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005129"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Diabetes Mellitus, 2"^^xsd:string) SubClassOf( ) # Class: (ABC Disease) AnnotationAssertion( "MESH:C579754"^^xsd:string) AnnotationAssertion( "RDO:0015813"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005130"^^xsd:string) AnnotationAssertion(rdfs:label "ABC Disease"^^xsd:string) SubClassOf( ) # Class: (Metatarsal Valgus) AnnotationAssertion(Annotation( "MESH:D000070591"^^xsd:string) "A foot anomaly in which the forefoot is angled outward relative to the hindfoot."^^xsd:string) AnnotationAssertion( "MESH:D000070591"^^xsd:string) AnnotationAssertion( "RDO:0016058"^^xsd:string) AnnotationAssertion( "Metatarsus Valgus"^^xsd:string) AnnotationAssertion( "Out Toeing"^^xsd:string) AnnotationAssertion( "Out-Toeings"^^xsd:string) AnnotationAssertion( "Toeing Outs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005131"^^xsd:string) AnnotationAssertion(rdfs:label "Metatarsal Valgus"^^xsd:string) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis, Type 3) AnnotationAssertion( "MIM:267200"^^xsd:string) AnnotationAssertion( "MESH:C537759"^^xsd:string) AnnotationAssertion( "RTA, bicarbonate-wasting type"^^xsd:string) AnnotationAssertion( "RTA, dislocation type"^^xsd:string) AnnotationAssertion( "bicarbonate-wasting RTA"^^xsd:string) AnnotationAssertion( "renal tubular acidosis III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005132"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis, Type 3"^^xsd:string) SubClassOf( ) # Class: (AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency) AnnotationAssertion( "MIM:608688"^^xsd:string) AnnotationAssertion( "MESH:C563876"^^xsd:string) AnnotationAssertion( "AICA ribosuria due to ATIC deficiency"^^xsd:string) AnnotationAssertion( "AICA-ribosiduria due to ATIC deficiency"^^xsd:string) AnnotationAssertion( "AICAR transformylase/IMP cyclohydrolase deficiency"^^xsd:string) AnnotationAssertion( "ATIC deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005133"^^xsd:string) AnnotationAssertion(rdfs:label "AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Plagiocephaly and X-Linked Mental Retardation) AnnotationAssertion( "MIM:300064"^^xsd:string) AnnotationAssertion( "MESH:C537512"^^xsd:string) AnnotationAssertion( "Hyde Forster Mccarthy Berry syndrome"^^xsd:string) AnnotationAssertion( "Mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, Hyde-Forster type"^^xsd:string) AnnotationAssertion( "X-linked mental retardation, with craniofacial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005134"^^xsd:string) AnnotationAssertion(rdfs:label "Plagiocephaly and X-Linked Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypospadias-Mental Retardation Syndrome) AnnotationAssertion( "MIM:241760"^^xsd:string) AnnotationAssertion( "MESH:C563067"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005135"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias-Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fraser Jequier Chen Syndrome) AnnotationAssertion( "MESH:C535481"^^xsd:string) AnnotationAssertion( "RDO:0000617"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005136"^^xsd:string) AnnotationAssertion(rdfs:label "Fraser Jequier Chen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myopathic Carnitine Deficiency) AnnotationAssertion( "MIM:212160"^^xsd:string) AnnotationAssertion( "GARD:6616"^^xsd:string) AnnotationAssertion( "MESH:C536100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005137"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathic Carnitine Deficiency"^^xsd:string) SubClassOf( ) # Class: (Self-Healing Collodion Baby) AnnotationAssertion( "RDO:0014098"^^xsd:string) AnnotationAssertion( "MESH:C565473"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005138"^^xsd:string) AnnotationAssertion(rdfs:label "Self-Healing Collodion Baby"^^xsd:string) SubClassOf( ) # Class: (Extensively Drug-Resistant Tuberculosis) AnnotationAssertion(Annotation( "MESH:D054908"^^xsd:string) "Tuberculosis resistant to ISONIAZID and RIFAMPIN and at least three of the six main classes of second-line drugs (AMINOGLYCOSIDES; polypeptide agents; FLUOROQUINOLONES; THIOAMIDES; CYCLOSERINE; and PARA-AMINOSALICYLIC ACID) as defined by the CDC."^^xsd:string) AnnotationAssertion( "MESH:D054908"^^xsd:string) AnnotationAssertion( "RDO:0007691"^^xsd:string) AnnotationAssertion( "Extensively Drug-Resistant Tuberculoses"^^xsd:string) AnnotationAssertion( "Extremely Drug Resistant Tuberculosis"^^xsd:string) AnnotationAssertion( "Extremely Drug-Resistant Tuberculoses"^^xsd:string) AnnotationAssertion( "XDR-TB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005139"^^xsd:string) AnnotationAssertion(rdfs:label "Extensively Drug-Resistant Tuberculosis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617709"^^xsd:string) AnnotationAssertion( "NEDMAS"^^xsd:string) AnnotationAssertion( "SARS1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005140"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ventricular Tachycardia) AnnotationAssertion(Annotation( "MESH:D017180"^^xsd:string) "An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation)."^^xsd:string) AnnotationAssertion( "EFO:0005306"^^xsd:string) AnnotationAssertion( "MESH:D017180"^^xsd:string) AnnotationAssertion( "NCI:C50802"^^xsd:string) AnnotationAssertion( "Ventricular Tachycardias"^^xsd:string) AnnotationAssertion( "EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIAS"^^xsd:string) AnnotationAssertion( "VENTRICULAR TACHYCARDIA, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005141"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Stomach Volvulus) AnnotationAssertion(Annotation( "MESH:D013277"^^xsd:string) "Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA."^^xsd:string) AnnotationAssertion( "EFO:1001852"^^xsd:string) AnnotationAssertion( "MESH:D013277"^^xsd:string) AnnotationAssertion( "Gastric Volvulus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005142"^^xsd:string) AnnotationAssertion(rdfs:label "Stomach Volvulus"^^xsd:string) SubClassOf( ) # Class: (Atypical Meningioma) AnnotationAssertion(Annotation( "NCI:C4723"^^xsd:string) "This is a WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-25T13:50:13Z"^^xsd:string) AnnotationAssertion( "EFO:1000101"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005143"^^xsd:string) AnnotationAssertion(rdfs:label "Atypical Meningioma"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Lymphoproliferative Syndrome, Type IA) AnnotationAssertion( "MESH:C566613"^^xsd:string) AnnotationAssertion( "ALPS1A"^^xsd:string) AnnotationAssertion( "Autoimmune lymphoproliferative syndrome, type 1a"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005144"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Lymphoproliferative Syndrome, Type IA"^^xsd:string) SubClassOf( ) # Class: (High Myopia with Cataract and Vitreoretinal Degeneration) AnnotationAssertion( "MIM:614292"^^xsd:string) AnnotationAssertion( "MCVD"^^xsd:string) AnnotationAssertion( "P3H2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005145"^^xsd:string) AnnotationAssertion(rdfs:label "High Myopia with Cataract and Vitreoretinal Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hydatidiform Mole) AnnotationAssertion(Annotation( "MESH:D006828"^^xsd:string) "Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype."^^xsd:string) AnnotationAssertion( "EFO:1000298"^^xsd:string) AnnotationAssertion( "MESH:D006828"^^xsd:string) AnnotationAssertion( "CHM"^^xsd:string) AnnotationAssertion( "Complete Hydatidiform Mole"^^xsd:string) AnnotationAssertion( "GESTATIONAL TROPHOBLASTIC DISEASE"^^xsd:string) AnnotationAssertion( "HYDM"^^xsd:string) AnnotationAssertion( "Hydatid Mole"^^xsd:string) AnnotationAssertion( "Hydatid Moles"^^xsd:string) AnnotationAssertion( "Hydatidiform Moles"^^xsd:string) AnnotationAssertion( "Molar Pregnancies"^^xsd:string) AnnotationAssertion( "Molar Pregnancy"^^xsd:string) AnnotationAssertion( "Partial Hydatidiform Mole"^^xsd:string) AnnotationAssertion( "complete hydatidiform moles"^^xsd:string) AnnotationAssertion( "partial hydatidiform moles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005147"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole"^^xsd:string) SubClassOf( ) # Class: (Multiple Chronic Conditions) AnnotationAssertion(Annotation( "MESH:D000071069"^^xsd:string) "Two or more concurrent chronic physical, mental, or behavioral health problems in an individual."^^xsd:string) AnnotationAssertion( "MESH:D000071069"^^xsd:string) AnnotationAssertion( "RDO:0016071"^^xsd:string) AnnotationAssertion( "Multiple Chronic Disease"^^xsd:string) AnnotationAssertion( "Multiple Chronic Diseases"^^xsd:string) AnnotationAssertion( "Multiple Chronic Health Conditions"^^xsd:string) AnnotationAssertion( "Multiple Chronic Illnesses"^^xsd:string) AnnotationAssertion( "Multiple Chronic Medical Conditions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005148"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Chronic Conditions"^^xsd:string) SubClassOf( ) # Class: (Ovary Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the ovaries, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001208"^^xsd:string) AnnotationAssertion( "ovarian ischemia/reperfusion injury"^^xsd:string) AnnotationAssertion( "ovarian reperfusion injury"^^xsd:string) AnnotationAssertion( "ovary ischemia/reperfusion injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005149"^^xsd:string) AnnotationAssertion(rdfs:label "Ovary Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mosaic Variegated Aneuploidy Syndrome 6) AnnotationAssertion(Annotation( "MIM:620185"^^xsd:string) "An autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Caused by homozygous or compound heterozygous mutation in the SMC5 gene on chromosome 9q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-10T08:30:41Z"^^xsd:string) AnnotationAssertion( "MIM:620185"^^xsd:string) AnnotationAssertion( "ATELS2"^^xsd:string) AnnotationAssertion( "Atelis syndrome 2"^^xsd:string) AnnotationAssertion( "MVA6"^^xsd:string) AnnotationAssertion( "POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005150"^^xsd:string) AnnotationAssertion(rdfs:label "Mosaic Variegated Aneuploidy Syndrome 6"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Selective Tooth Agenesis 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T13:40:38Z"^^xsd:string) AnnotationAssertion( "MIM:106600"^^xsd:string) AnnotationAssertion( "MONDO:0007129"^^xsd:string) AnnotationAssertion( "HYD1"^^xsd:string) AnnotationAssertion( "Hypodontia Oligodontia 1"^^xsd:string) AnnotationAssertion( "SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF"^^xsd:string) AnnotationAssertion( "STHAG1"^^xsd:string) AnnotationAssertion( "Tooth agenesis, selective, 1, with or without orofacial cleft"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005151"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 1"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 3B, Severe) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-07T11:07:02Z"^^xsd:string) AnnotationAssertion( "MIM:619786"^^xsd:string) AnnotationAssertion( "JEB3B"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 3B, Generalized Severe"^^xsd:string) AnnotationAssertion( "Junctional Epidermolysis Bullosa 3B, Herlitz Type"^^xsd:string) AnnotationAssertion( "severe junctional epidermolysis bullosa 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005152"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 3B, Severe"^^xsd:string) SubClassOf( ) # Class: (DEGCAGS SYNDROME) AnnotationAssertion(Annotation( "MIM:619488"^^xsd:string) "This disease is an autosomal recessive, syndromic, neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-18T13:55:06Z"^^xsd:string) AnnotationAssertion( "MIM:619488"^^xsd:string) AnnotationAssertion( "DEGCAGS"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005153"^^xsd:string) AnnotationAssertion(rdfs:label "DEGCAGS SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myoclonic Epilepsies) AnnotationAssertion(Annotation( "MESH:D004831"^^xsd:string) "A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)."^^xsd:string) AnnotationAssertion( "OMIA:002095"^^xsd:string) AnnotationAssertion( "EFO:1001900"^^xsd:string) AnnotationAssertion( "MESH:D004831"^^xsd:string) AnnotationAssertion( "Cryptogenic Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Idiopathic Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "MYOCLONIC ABSENCE SEIZURE"^^xsd:string) AnnotationAssertion( "Myoclonic Absence Epilepsies"^^xsd:string) AnnotationAssertion( "Myoclonic Absence Epilepsy"^^xsd:string) AnnotationAssertion( "Myoclonic Astatic Epilepsies"^^xsd:string) AnnotationAssertion( "Myoclonic Astatic Epilepsy"^^xsd:string) AnnotationAssertion( "Myoclonic Encephalopathies"^^xsd:string) AnnotationAssertion( "Myoclonic Encephalopathy"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy"^^xsd:string) AnnotationAssertion( "Myoclonic Seizure Disorder"^^xsd:string) AnnotationAssertion( "Myoclonic Seizure Disorders"^^xsd:string) AnnotationAssertion( "Myoclonus Epilepsies"^^xsd:string) AnnotationAssertion( "cryptogenic myoclonic epilepsies"^^xsd:string) AnnotationAssertion( "idiopathic myoclonic epilepsies"^^xsd:string) AnnotationAssertion( "myoclonia epileptica"^^xsd:string) AnnotationAssertion( "myoclonic epileptic seizures"^^xsd:string) AnnotationAssertion( "myoclonic seizure"^^xsd:string) AnnotationAssertion( "myoclonus epilepsy"^^xsd:string) AnnotationAssertion( "symptomatic myoclonic epilepsies"^^xsd:string) AnnotationAssertion( "symptomatic myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "GENERALIZED MYOCLONIC SEIZURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005154"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amelia, Autosomal Recessive) AnnotationAssertion( "MIM:601360"^^xsd:string) AnnotationAssertion( "TBX4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563338"^^xsd:string) AnnotationAssertion( "PAPPAS"^^xsd:string) AnnotationAssertion( "posterior amelia with pelvic and pulmonary hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005155"^^xsd:string) AnnotationAssertion(rdfs:label "Amelia, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Striatal Degeneration, Autosomal Dominant 2) AnnotationAssertion( "A neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616922"^^xsd:string) AnnotationAssertion( "ADSD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005156"^^xsd:string) AnnotationAssertion(rdfs:label "Striatal Degeneration, Autosomal Dominant 2"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 90) AnnotationAssertion(Annotation( "MIM:620722"^^xsd:string) "A nonsyndromic form of bilateral progressive sensorineural hearing loss, which is mild to severe and affects all frequencies. Caused by heterozygous mutation in the MYO3A gene on chromosome 10p12."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-19T14:34:34Z"^^xsd:string) AnnotationAssertion( "MIM:620722"^^xsd:string) AnnotationAssertion( "DFNA90"^^xsd:string) AnnotationAssertion( "Deafness, autosomal dominant 90"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005157"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 90"^^xsd:string) SubClassOf( ) # Class: (Cushing Syndrome) AnnotationAssertion( "A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:12252"^^xsd:string) AnnotationAssertion( "EFO:0003099"^^xsd:string) AnnotationAssertion( "MESH:D003480"^^xsd:string) AnnotationAssertion( "Cushing syndrome"^^xsd:string) AnnotationAssertion( "Cushing's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005158"^^xsd:string) AnnotationAssertion(rdfs:label "Cushing Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachial Palsy, Familial Congenital) AnnotationAssertion( "MIM:608585"^^xsd:string) AnnotationAssertion( "MESH:C563901"^^xsd:string) AnnotationAssertion( "RDO:0013035"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005159"^^xsd:string) AnnotationAssertion(rdfs:label "Brachial Palsy, Familial Congenital"^^xsd:string) SubClassOf( ) # Class: (Myofibrillar Myopathy, ZASP-Related) AnnotationAssertion( "RDO:0012905"^^xsd:string) AnnotationAssertion( "MESH:C563718"^^xsd:string) AnnotationAssertion( "MFM, Zasp-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005160"^^xsd:string) AnnotationAssertion(rdfs:label "Myofibrillar Myopathy, ZASP-Related"^^xsd:string) SubClassOf( ) # Class: (Thymus Neoplasms) AnnotationAssertion(Annotation( "MESH:D013953"^^xsd:string) "Tumors or cancer of the THYMUS GLAND."^^xsd:string) AnnotationAssertion( "RDO:0002627"^^xsd:string) AnnotationAssertion( "EFO:0002626"^^xsd:string) AnnotationAssertion( "MESH:D013953"^^xsd:string) AnnotationAssertion( "NCI:C3412"^^xsd:string) AnnotationAssertion( "Thymus Neoplasm"^^xsd:string) AnnotationAssertion( "Thymus Tumor"^^xsd:string) AnnotationAssertion( "Thymus Tumors"^^xsd:string) AnnotationAssertion( "neoplasm of thymus"^^xsd:string) AnnotationAssertion( "thymic neoplasm"^^xsd:string) AnnotationAssertion( "thymic neoplasms"^^xsd:string) AnnotationAssertion( "thymic tumor"^^xsd:string) AnnotationAssertion( "thymic tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005161"^^xsd:string) AnnotationAssertion(rdfs:label "Thymus Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 1) AnnotationAssertion( "MIM:608583"^^xsd:string) AnnotationAssertion( "RDO:0004217"^^xsd:string) AnnotationAssertion( "MESH:C538261"^^xsd:string) AnnotationAssertion( "Atfb1"^^xsd:string) AnnotationAssertion( "Autosomal dominant atrial fibrillation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005162"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 1"^^xsd:string) SubClassOf( ) # Class: (Chromosome 15q, Tetrasomy) AnnotationAssertion( "MESH:C538039"^^xsd:string) AnnotationAssertion( "RDO:0003973"^^xsd:string) AnnotationAssertion( "Tetrasomy 15q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005163"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15q, Tetrasomy"^^xsd:string) SubClassOf( ) # Class: (Primary Congenital Glaucoma 3, E) AnnotationAssertion( "TEK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617272"^^xsd:string) AnnotationAssertion( "GLC3E"^^xsd:string) AnnotationAssertion( "primary congenital glaucoma-3E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005164"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Congenital Glaucoma 3, E"^^xsd:string) SubClassOf( ) # Class: (Deaf-Blind Disorders) AnnotationAssertion(Annotation( "MESH:D054062"^^xsd:string) "The absence of both hearing and vision."^^xsd:string) AnnotationAssertion( "MESH:D054062"^^xsd:string) AnnotationAssertion( "Blind-Deaf Disorder"^^xsd:string) AnnotationAssertion( "Blindness Deafness"^^xsd:string) AnnotationAssertion( "Deaf Blind Syndromes"^^xsd:string) AnnotationAssertion( "Deaf Blindness Disorders"^^xsd:string) AnnotationAssertion( "Deaf Mutism Blind Disorders"^^xsd:string) AnnotationAssertion( "Deaf-Blind Syndrome"^^xsd:string) AnnotationAssertion( "Deaf-Blindness Disorder"^^xsd:string) AnnotationAssertion( "Deaf-Mutism-Blind Disorder"^^xsd:string) AnnotationAssertion( "Hearing and Vision Loss"^^xsd:string) AnnotationAssertion( "Prelingual Deaf Blind Disorders"^^xsd:string) AnnotationAssertion( "Prelingual Deaf-Blind Disorder"^^xsd:string) AnnotationAssertion( "Prelingual Deafness Blindness"^^xsd:string) AnnotationAssertion( "Prelingual Deafness-Blindnesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005165"^^xsd:string) AnnotationAssertion(rdfs:label "Deaf-Blind Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Contusions) AnnotationAssertion(Annotation( "MESH:D003288"^^xsd:string) "Injuries resulting in hemorrhage, usually manifested in the skin."^^xsd:string) AnnotationAssertion( "MESH:D003288"^^xsd:string) AnnotationAssertion( "Bruise"^^xsd:string) AnnotationAssertion( "Bruises"^^xsd:string) AnnotationAssertion( "Contusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005166"^^xsd:string) AnnotationAssertion(rdfs:label "Contusions"^^xsd:string) SubClassOf( ) # Class: (Cryptogenic Cirrhosis) AnnotationAssertion( "RDO:0012230"^^xsd:string) AnnotationAssertion( "MESH:C562577"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005167"^^xsd:string) AnnotationAssertion(rdfs:label "Cryptogenic Cirrhosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Complement Factor B Deficiency) AnnotationAssertion( "MIM:615561"^^xsd:string) AnnotationAssertion( "CFBD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005169"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Factor B Deficiency"^^xsd:string) SubClassOf( ) # Class: (polyagglutination) AnnotationAssertion(Annotation( "PMID:10791887"^^xsd:string) "This is a hematopoietic system disease condition that is characterized by red blood cells that agglutinate upon exposure to almost all human sera or to transfused donor blood cells that show strong Sd(a++) expression."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-05T07:58:02Z"^^xsd:string) AnnotationAssertion( "MIM:111400"^^xsd:string) AnnotationAssertion( "MIM:615018"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005170"^^xsd:string) AnnotationAssertion(rdfs:label "polyagglutination"^^xsd:string) SubClassOf( ) # Class: (Acute Uveitis) AnnotationAssertion( "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a quick onset and relatively short course."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005171"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Uveitis"^^xsd:string) SubClassOf( ) # Class: (Lung Neoplasms) AnnotationAssertion(Annotation( "MESH:D008175"^^xsd:string) "Tumors of the LUNG."^^xsd:string) AnnotationAssertion( "MESH:D008175"^^xsd:string) AnnotationAssertion( "lung neoplasm"^^xsd:string) AnnotationAssertion( "pulmonary neoplasm"^^xsd:string) AnnotationAssertion( "pulmonary neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CYP2A6*4A"^^xsd:string) AnnotationAssertion( "DOID:9005172"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia and Mental Deficiency) AnnotationAssertion( "MESH:C537462"^^xsd:string) AnnotationAssertion( "Pinsky DiGeorge Harley syndrome"^^xsd:string) AnnotationAssertion( "colobomatous microphthalmia"^^xsd:string) AnnotationAssertion( "microphthalmos, severe mental retardation, and spastic cerebral palsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005173"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia and Mental Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acute Malaria) AnnotationAssertion( "MESH:C531736"^^xsd:string) AnnotationAssertion( "Chronic malaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005174"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Malaria"^^xsd:string) SubClassOf( ) # Class: (Ulcer) AnnotationAssertion(Annotation( "MESH:D014456"^^xsd:string) "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue."^^xsd:string) AnnotationAssertion( "MESH:D014456"^^xsd:string) AnnotationAssertion( "Ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005175"^^xsd:string) AnnotationAssertion(rdfs:label "Ulcer"^^xsd:string) SubClassOf( ) # Class: (Retroperitoneal Fibrosis) AnnotationAssertion(Annotation( "MESH:D012185"^^xsd:string) "A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis."^^xsd:string) AnnotationAssertion( "MESH:D012185"^^xsd:string) AnnotationAssertion( "Chronic Periaortitis"^^xsd:string) AnnotationAssertion( "Idiopathic Retroperitoneal Fibrosis"^^xsd:string) AnnotationAssertion( "Inflammatory Perianeurysmal Fibrosis"^^xsd:string) AnnotationAssertion( "Ormond Disease"^^xsd:string) AnnotationAssertion( "Ormond's Disease"^^xsd:string) AnnotationAssertion( "chronic periaortitides"^^xsd:string) AnnotationAssertion( "retroperitoneal fibroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005176"^^xsd:string) AnnotationAssertion(rdfs:label "Retroperitoneal Fibrosis"^^xsd:string) SubClassOf( ) # Class: (Bahemuka Brown Syndrome) AnnotationAssertion( "MESH:C537797"^^xsd:string) AnnotationAssertion( "Spastic paraplegia facial cutaneous lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005177"^^xsd:string) AnnotationAssertion(rdfs:label "Bahemuka Brown Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency 8) AnnotationAssertion(Annotation( "MIM:620303"^^xsd:string) "An autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone deficiency with variable deficiencies of other pituitary hormones, including TSH ACTH, and LH/FSH. Caused by heterozygous mutation in the ROBO1 gene on chromosome 3p12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-10T08:43:35Z"^^xsd:string) AnnotationAssertion( "MIM:620303"^^xsd:string) AnnotationAssertion( "CPHD8"^^xsd:string) AnnotationAssertion( "Pituitary hormone deficiency, combined or isolated, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005178"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency 8"^^xsd:string) SubClassOf( ) # Class: (Chronic Brain Injury) AnnotationAssertion(Annotation( "MESH:D020208"^^xsd:string) "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA."^^xsd:string) AnnotationAssertion( "MESH:D020208"^^xsd:string) AnnotationAssertion( "Chronic Brain Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005179"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Brain Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Premature Aging, Okamoto Type) AnnotationAssertion( "MESH:C535270"^^xsd:string) AnnotationAssertion( "RDO:0000248"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005180"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Aging, Okamoto Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multi-Infarct Dementia) AnnotationAssertion(Annotation( "MESH:D015161"^^xsd:string) "Loss of higher cortical functions with retained awareness due to multiple cortical or subcortical CEREBRAL INFARCTION. Memory, judgment, attention span, and impulse control are often impaired, and may be accompanied by PSEUDOBULBAR PALSY; HEMIPARESIS; reflex abnormalities, and other signs of localized neurologic dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p1060)"^^xsd:string) AnnotationAssertion( "MESH:D015161"^^xsd:string) AnnotationAssertion( "Dementia Multi-Infarcts"^^xsd:string) AnnotationAssertion( "Lacunar Dementia"^^xsd:string) AnnotationAssertion( "lacunar dementias"^^xsd:string) AnnotationAssertion( "multi-infarct dementias"^^xsd:string) AnnotationAssertion( "multiinfarct dementia"^^xsd:string) AnnotationAssertion( "multiinfarct dementias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005181"^^xsd:string) AnnotationAssertion(rdfs:label "Multi-Infarct Dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chemotherapy-induced nausea and vomiting) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-30T11:26:52Z"^^xsd:string) AnnotationAssertion( "EFO:0006911"^^xsd:string) AnnotationAssertion( "Chemotherapy disorder"^^xsd:string) AnnotationAssertion( "Chemotherapy sickness"^^xsd:string) AnnotationAssertion( "Chemotherapy induced vomiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005182"^^xsd:string) AnnotationAssertion(rdfs:label "Chemotherapy-induced nausea and vomiting"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Heyn-Sproul-Jackson Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-06T07:50:11Z"^^xsd:string) AnnotationAssertion( "MIM:618724"^^xsd:string) AnnotationAssertion( "HESJAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005184"^^xsd:string) AnnotationAssertion(rdfs:label "Heyn-Sproul-Jackson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ichthyosis Cheek Eyebrow Syndrome) AnnotationAssertion( "MIM:146720"^^xsd:string) AnnotationAssertion( "MESH:C536084"^^xsd:string) AnnotationAssertion( "ICE Syndrome"^^xsd:string) AnnotationAssertion( "Sidransky Feinstein Goodman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005185"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Cheek Eyebrow Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA) AnnotationAssertion(Annotation( "MIM:620233"^^xsd:string) "This disease is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis, these patients have normal sweat chloride and pancreatic elastase tests."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-11T13:53:43Z"^^xsd:string) AnnotationAssertion( "MIM:620233"^^xsd:string) AnnotationAssertion( "RIFTD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005186"^^xsd:string) AnnotationAssertion(rdfs:label "RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy) AnnotationAssertion( "MIM:220219"^^xsd:string) AnnotationAssertion( "MESH:C535985"^^xsd:string) AnnotationAssertion( "Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005187"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thoraco Limb Dysplasia Rivera Type) AnnotationAssertion( "MESH:C536516"^^xsd:string) AnnotationAssertion( "Rivera Perez Salas syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005188"^^xsd:string) AnnotationAssertion(rdfs:label "Thoraco Limb Dysplasia Rivera Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vacuolar Myopathy) AnnotationAssertion( "MIM:609500"^^xsd:string) AnnotationAssertion( "MIM:616231"^^xsd:string) AnnotationAssertion( "MESH:C536522"^^xsd:string) AnnotationAssertion( "Autophagic vacuolar myopathy"^^xsd:string) AnnotationAssertion( "CASQ1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Myopathy, Autophagic Vacuolar, Infantile-Onset"^^xsd:string) AnnotationAssertion( "VMCQA"^^xsd:string) AnnotationAssertion( "vacuolar myopathy with CASQ1 aggregates"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005189"^^xsd:string) AnnotationAssertion(rdfs:label "Vacuolar Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Juberg Hayward Syndrome) AnnotationAssertion( "MIM:216100"^^xsd:string) AnnotationAssertion( "ESCO2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537690"^^xsd:string) AnnotationAssertion( "JHS"^^xsd:string) AnnotationAssertion( "cleft lip-palate with abnormal thumbs and microcephaly"^^xsd:string) AnnotationAssertion( "cleft lip/palate with radial head and digital anomalies"^^xsd:string) AnnotationAssertion( "cranio-oro-digital syndrome"^^xsd:string) AnnotationAssertion( "orocraniodigital syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005190"^^xsd:string) AnnotationAssertion(rdfs:label "Juberg Hayward Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Linear IgA Bullous Dermatosis) AnnotationAssertion(Annotation( "MESH:D062027"^^xsd:string) "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of IMMUNOGLOBULIN A and occasionally IMMUNOGLOBULIN G classes against epidermal BASEMENT MEMBRANE proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., VANCOMYCIN)."^^xsd:string) AnnotationAssertion( "EFO:0009313"^^xsd:string) AnnotationAssertion( "MESH:D062027"^^xsd:string) AnnotationAssertion( "Chronic Bullous Disease of Childhood"^^xsd:string) AnnotationAssertion( "Drug induced Linear IgA Bullous Dermatosis"^^xsd:string) AnnotationAssertion( "Drug induced Linear IgA Dermatosis"^^xsd:string) AnnotationAssertion( "Linear IgA Dermatoses"^^xsd:string) AnnotationAssertion( "Linear IgA Dermatosis"^^xsd:string) AnnotationAssertion( "Linear IgA IgG Bullous Dermatosis"^^xsd:string) AnnotationAssertion( "Linear IgA IgG Dermatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005191"^^xsd:string) AnnotationAssertion(rdfs:label "Linear IgA Bullous Dermatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arena Syndrome) AnnotationAssertion( "MESH:C537428"^^xsd:string) AnnotationAssertion( "Spastic paraplegia with iron deposits in basal ganglia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005192"^^xsd:string) AnnotationAssertion(rdfs:label "Arena Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteochondroma) AnnotationAssertion(Annotation( "MESH:D015831"^^xsd:string) "A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."^^xsd:string) AnnotationAssertion( "EFO:1000411"^^xsd:string) AnnotationAssertion( "MESH:D015831"^^xsd:string) AnnotationAssertion( "NCI:C3295"^^xsd:string) AnnotationAssertion( "Cartilaginous Exostoses"^^xsd:string) AnnotationAssertion( "Cartilaginous Exostosis"^^xsd:string) AnnotationAssertion( "Chondrosteoma"^^xsd:string) AnnotationAssertion( "Chondrosteomas"^^xsd:string) AnnotationAssertion( "Osteocartilaginous Exostoses"^^xsd:string) AnnotationAssertion( "Osteocartilaginous Exostosis"^^xsd:string) AnnotationAssertion( "Osteochondromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005193"^^xsd:string) AnnotationAssertion(rdfs:label "Osteochondroma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES) AnnotationAssertion( "A severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617481"^^xsd:string) AnnotationAssertion( "NMIHBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005194"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Intellectual Developmental Disorder 68) AnnotationAssertion( "Characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Caused by heterozygous mutation in the KMT2B gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T10:59:04Z"^^xsd:string) AnnotationAssertion( "KMT2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619934"^^xsd:string) AnnotationAssertion( "MRD68"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 68"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005196"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 68"^^xsd:string) SubClassOf( ) # Class: (X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein) AnnotationAssertion( "MIM:308220"^^xsd:string) AnnotationAssertion( "MESH:C564120"^^xsd:string) AnnotationAssertion( "Gpl115 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005197"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Trisomy 3p) AnnotationAssertion( "MESH:C536811"^^xsd:string) AnnotationAssertion( "Duplication 3p"^^xsd:string) AnnotationAssertion( "Trisomy 3p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005198"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Trisomy 3p"^^xsd:string) SubClassOf( ) # Class: (B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY) AnnotationAssertion( "MIM:616452"^^xsd:string) AnnotationAssertion( "BENTA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005199"^^xsd:string) AnnotationAssertion(rdfs:label "B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 17) AnnotationAssertion(Annotation( "MIM:620319"^^xsd:string) "A female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation. Caused by homozygous or compound heterozygous mutation in the KPNA7 gene on chromosome 7q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-11T09:48:57Z"^^xsd:string) AnnotationAssertion( "MIM:620319"^^xsd:string) AnnotationAssertion( "OZEMA17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005201"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 17"^^xsd:string) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 48) AnnotationAssertion( "An autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance. Caused by homozygous mutation in the NME5 gene on chromosome 5q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-16T12:01:26Z"^^xsd:string) AnnotationAssertion( "MIM:620032"^^xsd:string) AnnotationAssertion( "CILD48"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia-48 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005202"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 48"^^xsd:string) SubClassOf( ) # Class: (Periventricular Nodular Heterotopia 3) AnnotationAssertion( "MIM:608098"^^xsd:string) AnnotationAssertion( "RDO:0013308"^^xsd:string) AnnotationAssertion( "MESH:C564291"^^xsd:string) AnnotationAssertion( "PVNH3"^^xsd:string) AnnotationAssertion( "Periventricular Heterotopia associated with Chromosome 5p Anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005203"^^xsd:string) AnnotationAssertion(rdfs:label "Periventricular Nodular Heterotopia 3"^^xsd:string) SubClassOf( ) # Class: (Persistent Hyperplastic Primary Vitreous, Autosomal Recessive) AnnotationAssertion( "MESH:C565633"^^xsd:string) AnnotationAssertion( "MESH:C566717"^^xsd:string) AnnotationAssertion( "MIM:221900"^^xsd:string) AnnotationAssertion( "MESH:C566966"^^xsd:string) AnnotationAssertion( "NCRNA"^^xsd:string) AnnotationAssertion( "PHPVAR"^^xsd:string) AnnotationAssertion( "RNANC"^^xsd:string) AnnotationAssertion( "congenital detachment of retina"^^xsd:string) AnnotationAssertion( "nonsyndromic congenital retinal nonattachment"^^xsd:string) AnnotationAssertion( "persistent fetal vasculature"^^xsd:string) AnnotationAssertion( "retinal nonattachment and falciform detachment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005204"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Hyperplastic Primary Vitreous, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Benign Intraepithelial Dyskeratosis) AnnotationAssertion( "MIM:127600"^^xsd:string) AnnotationAssertion( "MESH:C562551"^^xsd:string) AnnotationAssertion( "DKBI"^^xsd:string) AnnotationAssertion( "HBID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005205"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Benign Intraepithelial Dyskeratosis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 21, Uniparental Disomy of) AnnotationAssertion( "MESH:C536794"^^xsd:string) AnnotationAssertion( "RDO:0002485"^^xsd:string) AnnotationAssertion( "Mosaic trisomy 21"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005206"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 21, Uniparental Disomy of"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nasopharyngeal Neoplasms) AnnotationAssertion( "Tumors or cancer of the NASOPHARYNX."^^xsd:string) AnnotationAssertion( "RDO:0004305"^^xsd:string) AnnotationAssertion( "EFO:0004252"^^xsd:string) AnnotationAssertion( "MESH:D009303"^^xsd:string) AnnotationAssertion( "Nasopharyngeal Neoplasm"^^xsd:string) AnnotationAssertion( "nasopharynx neoplasm"^^xsd:string) AnnotationAssertion( "nasopharynx neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005207"^^xsd:string) AnnotationAssertion(rdfs:label "Nasopharyngeal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tunglang Savage Bellman Syndrome) AnnotationAssertion( "MESH:C536927"^^xsd:string) AnnotationAssertion( "Hearing loss and familial salivary gland insensitivity to aldosterone"^^xsd:string) AnnotationAssertion( "Hearing loss insensitivity to aldosterone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005208"^^xsd:string) AnnotationAssertion(rdfs:label "Tunglang Savage Bellman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Usher Syndrome Type 4) AnnotationAssertion( "This disease is an atypical form of Usher syndrome. It is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-08T15:26:10Z"^^xsd:string) AnnotationAssertion( "MIM:618144"^^xsd:string) AnnotationAssertion( "ARSG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "USH4"^^xsd:string) AnnotationAssertion( "Usher syndrome type IV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005209"^^xsd:string) AnnotationAssertion(rdfs:label "Usher Syndrome Type 4"^^xsd:string) SubClassOf( ) # Class: (Ingrown Nails) AnnotationAssertion(Annotation( "MESH:D009263"^^xsd:string) "Excessive lateral nail growth into the nail fold. Because the lateral margin of the nail acts as a foreign body, inflammation and granulation may result. It is caused by improperly fitting shoes and by improper trimming of the nail."^^xsd:string) AnnotationAssertion( "RDO:0006179"^^xsd:string) AnnotationAssertion( "MESH:D009263"^^xsd:string) AnnotationAssertion( "Ingrown Nail"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005210"^^xsd:string) AnnotationAssertion(rdfs:label "Ingrown Nails"^^xsd:string) SubClassOf( ) # Class: (Pfeiffer Tietze Welte Syndrome) AnnotationAssertion( "MESH:C537891"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005211"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer Tietze Welte Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Posterior Tibial Tendon Dysfunction) AnnotationAssertion(Annotation( "MESH:D037081"^^xsd:string) "A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults."^^xsd:string) AnnotationAssertion( "MESH:D037081"^^xsd:string) AnnotationAssertion( "RDO:0007492"^^xsd:string) AnnotationAssertion( "Posterior Tibial Tendon Insufficiency"^^xsd:string) AnnotationAssertion( "Tibialis Posterior Dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005212"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Tibial Tendon Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Dysmyelinating Leukodystrophy with Oligodontia) AnnotationAssertion( "MESH:C564344"^^xsd:string) AnnotationAssertion( "dentoleukoencephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005213"^^xsd:string) AnnotationAssertion(rdfs:label "Dysmyelinating Leukodystrophy with Oligodontia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anatomical Pathological Conditions) AnnotationAssertion( "An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases."^^xsd:string) AnnotationAssertion( "MESH:D020763"^^xsd:string) AnnotationAssertion( "Anatomical Pathological Condition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005214"^^xsd:string) AnnotationAssertion(rdfs:label "Anatomical Pathological Conditions"^^xsd:string) SubClassOf( ) # Class: (Hypochromic Microcytic Anemia with Iron Overload 1) AnnotationAssertion( "RDO:0015298"^^xsd:string) AnnotationAssertion( "MIM:206100"^^xsd:string) AnnotationAssertion( "AHMIO1"^^xsd:string) AnnotationAssertion( "ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1"^^xsd:string) AnnotationAssertion( "SLC11A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005215"^^xsd:string) AnnotationAssertion(rdfs:label "Hypochromic Microcytic Anemia with Iron Overload 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Infantile Hypercalcemia) AnnotationAssertion( "MESH:C562999"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005216"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypercalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ALZAHRANI-KUWAHARA SYNDROME) AnnotationAssertion(Annotation( "MIM:619268"^^xsd:string) "This disease is an autosomal recessive, neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-05-11T13:04:55Z"^^xsd:string) AnnotationAssertion( "MIM:619268"^^xsd:string) AnnotationAssertion( "ALKUS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005217"^^xsd:string) AnnotationAssertion(rdfs:label "ALZAHRANI-KUWAHARA SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Boudhina Yedes Khiari syndrome) AnnotationAssertion( "MESH:C537939"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005218"^^xsd:string) AnnotationAssertion(rdfs:label "Boudhina Yedes Khiari syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Abnormal Reflexes) AnnotationAssertion(Annotation( "MESH:D012021"^^xsd:string) "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes."^^xsd:string) AnnotationAssertion( "MIM:145290"^^xsd:string) AnnotationAssertion( "MESH:D012021"^^xsd:string) AnnotationAssertion( "Abnormal Deep Tendon Reflex"^^xsd:string) AnnotationAssertion( "Abnormal Reflex"^^xsd:string) AnnotationAssertion( "Absent Reflex"^^xsd:string) AnnotationAssertion( "Bulbocavernousus Reflex Absent"^^xsd:string) AnnotationAssertion( "Decreased Bulbocavernosus Reflex"^^xsd:string) AnnotationAssertion( "Decreased Reflex"^^xsd:string) AnnotationAssertion( "HRX"^^xsd:string) AnnotationAssertion( "Hoffman's Reflex"^^xsd:string) AnnotationAssertion( "Hyperreflexia"^^xsd:string) AnnotationAssertion( "Hyporeflexia"^^xsd:string) AnnotationAssertion( "Moro Reflex, Asymmetric"^^xsd:string) AnnotationAssertion( "Palmo Mental Reflex"^^xsd:string) AnnotationAssertion( "Pendular Reflex"^^xsd:string) AnnotationAssertion( "Reflex, Acoustic, Abnormal"^^xsd:string) AnnotationAssertion( "Reflex, Anal, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Anal, Decreased"^^xsd:string) AnnotationAssertion( "Reflex, Ankle, Abnormal"^^xsd:string) AnnotationAssertion( "Reflex, Ankle, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Ankle, Decreased"^^xsd:string) AnnotationAssertion( "Reflex, Biceps, Abnormal"^^xsd:string) AnnotationAssertion( "Reflex, Biceps, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Biceps, Decreased"^^xsd:string) AnnotationAssertion( "Reflex, Corneal, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Corneal, Decreased"^^xsd:string) AnnotationAssertion( "Reflex, Deep Tendon, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Gag, Absent"^^xsd:string) AnnotationAssertion( "Reflex, Gag, Decreased"^^xsd:string) AnnotationAssertion( "Reflex, Knee, Abnormal"^^xsd:string) AnnotationAssertion( "Reflex, Knee, Decreased"^^xsd:string) AnnotationAssertion( "Triceps Reflex, Abnormal"^^xsd:string) AnnotationAssertion( "Triceps Reflex, Absent"^^xsd:string) AnnotationAssertion( "Triceps Reflex, Decreased"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005219"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Reflexes"^^xsd:string) SubClassOf( ) # Class: (Waterborne Diseases) AnnotationAssertion(Annotation( "MESH:D000069578"^^xsd:string) "Illnesses due to micro-organisms and chemicals in drinking water, those caused by organisms having part of their lifecycle in water or those with water-related vectors, and others spread by aerosols containing pathogens."^^xsd:string) AnnotationAssertion( "MESH:D000069578"^^xsd:string) AnnotationAssertion( "Water related Diseases"^^xsd:string) AnnotationAssertion( "Water-related Disease"^^xsd:string) AnnotationAssertion( "Waterborne Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005220"^^xsd:string) AnnotationAssertion(rdfs:label "Waterborne Diseases"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1) AnnotationAssertion( "EFO:1001501"^^xsd:string) AnnotationAssertion( "MIM:614742"^^xsd:string) AnnotationAssertion( "PFBMFT1"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005221"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1"^^xsd:string) SubClassOf( ) # Class: (Absence of Vagina) AnnotationAssertion( "MESH:C536523"^^xsd:string) AnnotationAssertion( "Vaginal agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005222"^^xsd:string) AnnotationAssertion(rdfs:label "Absence of Vagina"^^xsd:string) SubClassOf( ) # Class: (Ribose 5-Phosphate Isomerase Deficiency) AnnotationAssertion( "MESH:C563212"^^xsd:string) AnnotationAssertion( "MIM:608611"^^xsd:string) AnnotationAssertion( "MONDO:0012073"^^xsd:string) AnnotationAssertion( "ORDO:440706"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF RIBOSE-5-PHOSPHATE ISOMERASE"^^xsd:string) AnnotationAssertion( "Ribose-5-P isomerase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005223"^^xsd:string) AnnotationAssertion(rdfs:label "Ribose 5-Phosphate Isomerase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Auditory Neuropathy, Nonsyndromic Recessive) AnnotationAssertion( "MESH:C563398"^^xsd:string) AnnotationAssertion( "RDO:0012663"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005224"^^xsd:string) AnnotationAssertion(rdfs:label "Auditory Neuropathy, Nonsyndromic Recessive"^^xsd:string) SubClassOf( ) # Class: (Pigmentary Retinopathy and Sensorineural Deafness) AnnotationAssertion( "RDO:9000753"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005225"^^xsd:string) AnnotationAssertion(rdfs:label "Pigmentary Retinopathy and Sensorineural Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coxa Vara) AnnotationAssertion(Annotation( "MESH:D060905"^^xsd:string) "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental."^^xsd:string) AnnotationAssertion( "MIM:122750"^^xsd:string) AnnotationAssertion( "EFO:1001298"^^xsd:string) AnnotationAssertion( "MESH:D060905"^^xsd:string) AnnotationAssertion( "Acquired Coxa Vara"^^xsd:string) AnnotationAssertion( "Acquired Coxa Varas"^^xsd:string) AnnotationAssertion( "Acquired Coxa Varus"^^xsd:string) AnnotationAssertion( "Congenital Coxa Vara"^^xsd:string) AnnotationAssertion( "Congenital Coxa Varas"^^xsd:string) AnnotationAssertion( "Congenital Coxa Varus"^^xsd:string) AnnotationAssertion( "Coxa Varas"^^xsd:string) AnnotationAssertion( "Coxa Varus"^^xsd:string) AnnotationAssertion( "Developmental Coxa Vara"^^xsd:string) AnnotationAssertion( "Developmental Coxa Varas"^^xsd:string) AnnotationAssertion( "Developmental Coxa Varus"^^xsd:string) AnnotationAssertion( "Infantile Coxa Vara"^^xsd:string) AnnotationAssertion( "Infantile Coxa Varas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005226"^^xsd:string) AnnotationAssertion(rdfs:label "Coxa Vara"^^xsd:string) SubClassOf( ) # Class: (Moraxellaceae Infections) AnnotationAssertion(Annotation( "MESH:D045828"^^xsd:string) "Infections with bacteria of the family MORAXELLACEAE."^^xsd:string) AnnotationAssertion( "RDO:0004709"^^xsd:string) AnnotationAssertion( "EFO:1001072"^^xsd:string) AnnotationAssertion( "MESH:D045828"^^xsd:string) AnnotationAssertion( "Moraxella Infection"^^xsd:string) AnnotationAssertion( "Moraxella Infections"^^xsd:string) AnnotationAssertion( "Moraxellaceae Infection"^^xsd:string) AnnotationAssertion( "Moraxellaceae infectious disease"^^xsd:string) AnnotationAssertion( "Psychobacter Infection"^^xsd:string) AnnotationAssertion( "Psychobacter Infections"^^xsd:string) AnnotationAssertion( "opportunistic Moraxellaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005227"^^xsd:string) AnnotationAssertion(rdfs:label "Moraxellaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Musculoskeletal Pain) AnnotationAssertion(Annotation( "MESH:D059352"^^xsd:string) "Discomfort stemming from muscles, LIGAMENTS, tendons, and bones."^^xsd:string) AnnotationAssertion( "MESH:D059352"^^xsd:string) AnnotationAssertion( "RDO:0010011"^^xsd:string) AnnotationAssertion( "Musculoskeletal Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005228"^^xsd:string) AnnotationAssertion(rdfs:label "Musculoskeletal Pain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 72) AnnotationAssertion(Annotation( "MIM:619867"^^xsd:string) "Characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in lack of sperm motility. Caused by homozygous mutation in the WDR19 gene on chromosome 4p14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-03T13:28:50Z"^^xsd:string) AnnotationAssertion( "MIM:619867"^^xsd:string) AnnotationAssertion( "MONDO:0030809"^^xsd:string) AnnotationAssertion( "SPGF72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005229"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 72"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Deafness 4) AnnotationAssertion( "RDO:0012708"^^xsd:string) AnnotationAssertion( "MESH:C563460"^^xsd:string) AnnotationAssertion( "DFNA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005230"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Deafness 4"^^xsd:string) SubClassOf( ) # Class: (Self-Limited Delayed Puberty) AnnotationAssertion(Annotation( "MIM:619613"^^xsd:string) "This is a disease characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-04T11:09:18Z"^^xsd:string) AnnotationAssertion( "MIM:619613"^^xsd:string) AnnotationAssertion( "CONSTITUTIONAL DELAY OF PUBERTY"^^xsd:string) AnnotationAssertion( "DPSL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005231"^^xsd:string) AnnotationAssertion(rdfs:label "Self-Limited Delayed Puberty"^^xsd:string) SubClassOf( ) # Class: (Reticular Dystrophy of Retinal Pigment Epithelium) AnnotationAssertion( "MIM:179840"^^xsd:string) AnnotationAssertion( "MESH:C566721"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005232"^^xsd:string) AnnotationAssertion(rdfs:label "Reticular Dystrophy of Retinal Pigment Epithelium"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Mammary Neoplasms) AnnotationAssertion(Annotation( "MESH:D008325"^^xsd:string) "Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS."^^xsd:string) AnnotationAssertion( "MESH:D008325"^^xsd:string) AnnotationAssertion( "Experimental Mammary Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005233"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Mammary Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27) AnnotationAssertion(Annotation( "MIM:619566"^^xsd:string) "Characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. Caused by homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-10-27T16:01:44Z"^^xsd:string) AnnotationAssertion( "MIM:619566"^^xsd:string) AnnotationAssertion( "LGMDR27"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005234"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Drug Eruptions) AnnotationAssertion(Annotation( "MESH:D003875"^^xsd:string) "Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions."^^xsd:string) AnnotationAssertion( "MESH:D003875"^^xsd:string) AnnotationAssertion( "Dermatitis Medicamentosa"^^xsd:string) AnnotationAssertion( "Dermatitis, Adverse Drug Reaction"^^xsd:string) AnnotationAssertion( "Drug Eruption"^^xsd:string) AnnotationAssertion( "Maculopapular Drug Eruption"^^xsd:string) AnnotationAssertion( "Maculopapular Drug Eruptions"^^xsd:string) AnnotationAssertion( "Maculopapular Exanthem"^^xsd:string) AnnotationAssertion( "Maculopapular Exanthems"^^xsd:string) AnnotationAssertion( "Morbilliform Drug Reaction"^^xsd:string) AnnotationAssertion( "Morbilliform Drug Reactions"^^xsd:string) AnnotationAssertion( "Morbilliform Exanthem"^^xsd:string) AnnotationAssertion( "Morbilliform Exanthems"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005236"^^xsd:string) AnnotationAssertion(rdfs:label "Drug Eruptions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated) AnnotationAssertion( "MIM:614878"^^xsd:string) AnnotationAssertion( "APLAID"^^xsd:string) AnnotationAssertion( "autoinflammation, antibody deficiency, and immune dysregulation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005237"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA) AnnotationAssertion(Annotation( "MIM:620210"^^xsd:string) "This disease is an autosomal recessive disorder characterized by dysmorphic facies, ischiopubic hypoplasia, and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-02T08:46:53Z"^^xsd:string) AnnotationAssertion( "MIM:620210"^^xsd:string) AnnotationAssertion( "NEDFIH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005238"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lewy Body Variant of Alzheimer's Disease) AnnotationAssertion( "MESH:C565078"^^xsd:string) AnnotationAssertion( "Lewy Body Variant of Alzheimer Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005241"^^xsd:string) AnnotationAssertion(rdfs:label "Lewy Body Variant of Alzheimer's Disease"^^xsd:string) SubClassOf( ) # Class: (Progressive Encephalopathy with Amyotrophy and Optic Atrophy) AnnotationAssertion( "A severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617207"^^xsd:string) AnnotationAssertion( "PEAMO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005242"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Encephalopathy with Amyotrophy and Optic Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Membranous Subaortic Stenosis) AnnotationAssertion( "MIM:271950"^^xsd:string) AnnotationAssertion( "MESH:C564793"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005243"^^xsd:string) AnnotationAssertion(rdfs:label "Membranous Subaortic Stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vacuolar Neuromyopathy) AnnotationAssertion( "MIM:601846"^^xsd:string) AnnotationAssertion( "MESH:C566617"^^xsd:string) AnnotationAssertion( "RDO:0014927"^^xsd:string) AnnotationAssertion( "MDRV"^^xsd:string) AnnotationAssertion( "Muscular Dystrophy, Autosomal Dominant, With Rimmed Vacuoles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005244"^^xsd:string) AnnotationAssertion(rdfs:label "Vacuolar Neuromyopathy"^^xsd:string) SubClassOf( ) # Class: (Hyperimmunoglobulin G1(A1) Syndrome) AnnotationAssertion( "MIM:144120"^^xsd:string) AnnotationAssertion( "MESH:C564173"^^xsd:string) AnnotationAssertion( "RDO:0013220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005245"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperimmunoglobulin G1(A1) Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paralysis) AnnotationAssertion(Annotation( "MESH:D010243"^^xsd:string) "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)"^^xsd:string) AnnotationAssertion( "EFO:1000631"^^xsd:string) AnnotationAssertion( "MESH:D010243"^^xsd:string) AnnotationAssertion( "Palsies"^^xsd:string) AnnotationAssertion( "Palsy"^^xsd:string) AnnotationAssertion( "Paralyses"^^xsd:string) AnnotationAssertion( "Plegia"^^xsd:string) AnnotationAssertion( "Plegias"^^xsd:string) AnnotationAssertion( "Todd Paralysis"^^xsd:string) AnnotationAssertion( "Todd's Paralysis"^^xsd:string) AnnotationAssertion( "Todds Paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005246"^^xsd:string) AnnotationAssertion(rdfs:label "Paralysis"^^xsd:string) SubClassOf( ) # Class: (Megalencephalic Leukoencephalopathy with Subcortical Cysts 4) AnnotationAssertion(Annotation( "MIM:620448"^^xsd:string) "An autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Caused by homozygous mutation in the AQP4 gene on chromosome 18q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-25T09:53:48Z"^^xsd:string) AnnotationAssertion( "MIM:620448"^^xsd:string) AnnotationAssertion( "MLC4"^^xsd:string) AnnotationAssertion( "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005247"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephalic Leukoencephalopathy with Subcortical Cysts 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 103) AnnotationAssertion( "MIM:212050"^^xsd:string) AnnotationAssertion( "CANDF2"^^xsd:string) AnnotationAssertion( "CARD9 IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "Familial Candidiasis 2"^^xsd:string) AnnotationAssertion( "IMD103"^^xsd:string) AnnotationAssertion( "Immunodeficiency 103, susceptibility to fungal infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005249"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 103"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Groll Hirschowitz Syndrome) AnnotationAssertion( "MIM:221400"^^xsd:string) AnnotationAssertion( "MESH:C537305"^^xsd:string) AnnotationAssertion( "Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005250"^^xsd:string) AnnotationAssertion(rdfs:label "Groll Hirschowitz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anterior Spinal Artery Stroke) AnnotationAssertion( "MESH:C537776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005251"^^xsd:string) AnnotationAssertion(rdfs:label "Anterior Spinal Artery Stroke"^^xsd:string) SubClassOf( ) # Class: (Cellulite) AnnotationAssertion(Annotation( "MESH:D000071697"^^xsd:string) "Skin lumpiness or skin surface dimpling often seen on the thighs, buttocks and abdomen. It is due to protrusion of SUBCUTANEOUS FAT into the DERMIS layer of skin."^^xsd:string) AnnotationAssertion( "MESH:D000071697"^^xsd:string) AnnotationAssertion( "Cellulites"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005252"^^xsd:string) AnnotationAssertion(rdfs:label "Cellulite"^^xsd:string) SubClassOf( ) # Class: (Hypernatremia) AnnotationAssertion(Annotation( "MESH:D006955"^^xsd:string) "Excessive amount of sodium in the blood. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006955"^^xsd:string) AnnotationAssertion( "Hypernatremias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005253"^^xsd:string) AnnotationAssertion(rdfs:label "Hypernatremia"^^xsd:string) SubClassOf( ) # Class: (Systemic Candidiasis) AnnotationAssertion( "MESH:C536777"^^xsd:string) AnnotationAssertion( "Systemic candida infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005254"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Candidiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cranial Nerves, Recurrent Paresis of) AnnotationAssertion( "MIM:218200"^^xsd:string) AnnotationAssertion( "MESH:C565672"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005255"^^xsd:string) AnnotationAssertion(rdfs:label "Cranial Nerves, Recurrent Paresis of"^^xsd:string) SubClassOf( ) # Class: (Familial Atrial Fibrillation 18) AnnotationAssertion( "MIM:617280"^^xsd:string) AnnotationAssertion( "ATFB18"^^xsd:string) AnnotationAssertion( "MYL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005256"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 18"^^xsd:string) SubClassOf( ) # Class: (NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:620775"^^xsd:string) "This disease is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-28T12:58:47Z"^^xsd:string) AnnotationAssertion( "MIM:620775"^^xsd:string) AnnotationAssertion( "NMDF"^^xsd:string) AnnotationAssertion( "congenital neuromuscular disorder with dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005257"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Friedreich Ataxia with Retained Reflexes) AnnotationAssertion( "RDO:0013542"^^xsd:string) AnnotationAssertion( "MESH:C564657"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005258"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich Ataxia with Retained Reflexes"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypopituitarism with Central Diabetes Insipidus) AnnotationAssertion( "MIM:241540"^^xsd:string) AnnotationAssertion( "MESH:C565477"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005259"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypopituitarism with Central Diabetes Insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Meralgia Paraesthetica, Familial) AnnotationAssertion( "MIM:156220"^^xsd:string) AnnotationAssertion( "MESH:C563590"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005260"^^xsd:string) AnnotationAssertion(rdfs:label "Meralgia Paraesthetica, Familial"^^xsd:string) SubClassOf( ) # Class: (Maternal Death) AnnotationAssertion(Annotation( "MESH:D063130"^^xsd:string) "The death of the female parent."^^xsd:string) AnnotationAssertion( "MESH:D063130"^^xsd:string) AnnotationAssertion( "Maternal Deaths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005261"^^xsd:string) AnnotationAssertion(rdfs:label "Maternal Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Iridogoniodysgenesis and Skeletal Anomalies) AnnotationAssertion( "MIM:609515"^^xsd:string) AnnotationAssertion( "MESH:C535534"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005262"^^xsd:string) AnnotationAssertion(rdfs:label "Iridogoniodysgenesis and Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parietal Foramina with Cleidocranial Dysplasia) AnnotationAssertion( "MIM:168550"^^xsd:string) AnnotationAssertion( "MESH:C566825"^^xsd:string) AnnotationAssertion( "PFMCCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005263"^^xsd:string) AnnotationAssertion(rdfs:label "Parietal Foramina with Cleidocranial Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peripheral Motor Neuropathy with Dysautonomia) AnnotationAssertion( "MIM:252320"^^xsd:string) AnnotationAssertion( "MESH:C536988"^^xsd:string) AnnotationAssertion( "Lisker Garcia Ramos syndrome"^^xsd:string) AnnotationAssertion( "Peripheral motor neuropathy associated with autonomic dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005264"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Motor Neuropathy with Dysautonomia"^^xsd:string) SubClassOf( ) # Class: (Grubben de Cock Borghgraef Syndrome) AnnotationAssertion( "MESH:C537621"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005265"^^xsd:string) AnnotationAssertion(rdfs:label "Grubben de Cock Borghgraef Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:620224"^^xsd:string) "This disease is characterized by skeletal anomalies, global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-08-28T13:34:37Z"^^xsd:string) AnnotationAssertion( "MIM:620224"^^xsd:string) AnnotationAssertion( "MONDO:0859365"^^xsd:string) AnnotationAssertion( "NEDFSS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005266"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Potassium Deficiency) AnnotationAssertion(Annotation( "MESH:D011191"^^xsd:string) "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001120"^^xsd:string) AnnotationAssertion( "MESH:D011191"^^xsd:string) AnnotationAssertion( "Potassium Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005267"^^xsd:string) AnnotationAssertion(rdfs:label "Potassium Deficiency"^^xsd:string) SubClassOf( ) # Class: (dysphoria) AnnotationAssertion(Annotation( "EFO:0009867"^^xsd:string) "Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-03T14:27:43Z"^^xsd:string) AnnotationAssertion( "EFO:0009867"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005268"^^xsd:string) AnnotationAssertion(rdfs:label "dysphoria"^^xsd:string) SubClassOf( ) # Class: (Stable Angina) AnnotationAssertion(Annotation( "MESH:D060050"^^xsd:string) "Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA."^^xsd:string) AnnotationAssertion( "MESH:D060050"^^xsd:string) AnnotationAssertion( "Chronic Stable Angina"^^xsd:string) AnnotationAssertion( "Chronic Stable Anginas"^^xsd:string) AnnotationAssertion( "Stable Angina Pectori"^^xsd:string) AnnotationAssertion( "Stable Angina Pectoris"^^xsd:string) AnnotationAssertion( "Stable Anginas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005269"^^xsd:string) AnnotationAssertion(rdfs:label "Stable Angina"^^xsd:string) SubClassOf( ) # Class: (Glucocorticoid Deficiency 3) AnnotationAssertion( "MIM:609197"^^xsd:string) AnnotationAssertion( "MESH:C563776"^^xsd:string) AnnotationAssertion( "FGD3"^^xsd:string) AnnotationAssertion( "Familial Glucocorticoid Deficiency 3"^^xsd:string) AnnotationAssertion( "GCCD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005270"^^xsd:string) AnnotationAssertion(rdfs:label "Glucocorticoid Deficiency 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Polyuria) AnnotationAssertion(Annotation( "MESH:D011141"^^xsd:string) "Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS)."^^xsd:string) AnnotationAssertion( "MESH:D011141"^^xsd:string) AnnotationAssertion( "Polyurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005274"^^xsd:string) AnnotationAssertion(rdfs:label "Polyuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Swine Vesicular Disease) AnnotationAssertion(Annotation( "MESH:D013555"^^xsd:string) "An enterovirus infection of swine clinically indistinguishable from FOOT-AND-MOUTH DISEASE, vesicular stomatitis, and VESICULAR EXANTHEMA OF SWINE. It is caused by a strain of HUMAN ENTEROVIRUS B."^^xsd:string) AnnotationAssertion( "MESH:D013555"^^xsd:string) AnnotationAssertion( "Swine Vesicular Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005275"^^xsd:string) AnnotationAssertion(rdfs:label "Swine Vesicular Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Achromatopsia Incomplete, X-Linked) AnnotationAssertion( "MESH:C538165"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005276"^^xsd:string) AnnotationAssertion(rdfs:label "Achromatopsia Incomplete, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ichthyosis Tapered Fingers Midline Groove Up) AnnotationAssertion( "MIM:258840"^^xsd:string) AnnotationAssertion( "MESH:C536272"^^xsd:string) AnnotationAssertion( "oral and digital anomalies with ichthyosis"^^xsd:string) AnnotationAssertion( "unusual facies, digital abnormalities, and ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005279"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis Tapered Fingers Midline Groove Up"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities) AnnotationAssertion( "MIM:608281"^^xsd:string) AnnotationAssertion( "MESH:C564262"^^xsd:string) AnnotationAssertion( "Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005280"^^xsd:string) AnnotationAssertion(rdfs:label "Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Emergencies) AnnotationAssertion(Annotation( "MESH:D004630"^^xsd:string) "Situations or conditions requiring immediate intervention to avoid serious adverse results."^^xsd:string) AnnotationAssertion( "MESH:D004630"^^xsd:string) AnnotationAssertion( "Emergency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005281"^^xsd:string) AnnotationAssertion(rdfs:label "Emergencies"^^xsd:string) SubClassOf( ) # Class: (Branchioma) AnnotationAssertion(Annotation( "MESH:D001935"^^xsd:string) "A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001277"^^xsd:string) AnnotationAssertion( "MESH:D001935"^^xsd:string) AnnotationAssertion( "Branchial Cleft Cyst"^^xsd:string) AnnotationAssertion( "Branchial Cleft Cysts"^^xsd:string) AnnotationAssertion( "Branchial Cyst"^^xsd:string) AnnotationAssertion( "Branchial Cysts"^^xsd:string) AnnotationAssertion( "Branchiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005282"^^xsd:string) AnnotationAssertion(rdfs:label "Branchioma"^^xsd:string) SubClassOf( ) # Class: (Abdominal Cystic Lymphangioma) AnnotationAssertion( "RDO:0000737"^^xsd:string) AnnotationAssertion( "MESH:C535553"^^xsd:string) AnnotationAssertion( "Abdominal retroperitoneal lymphangioma"^^xsd:string) AnnotationAssertion( "Retroperitoneal cystic lymphangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005283"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Cystic Lymphangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bacteroides Infections) AnnotationAssertion(Annotation( "MESH:D001442"^^xsd:string) "Infections with bacteria of the genus BACTEROIDES."^^xsd:string) AnnotationAssertion( "EFO:1000832"^^xsd:string) AnnotationAssertion( "MESH:D001442"^^xsd:string) AnnotationAssertion( "RDO:0004969"^^xsd:string) AnnotationAssertion( "Bacteroides Infection"^^xsd:string) AnnotationAssertion( "Bacteroides infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005284"^^xsd:string) AnnotationAssertion(rdfs:label "Bacteroides Infections"^^xsd:string) SubClassOf( ) # Class: (Osteochondromatosis) AnnotationAssertion(Annotation( "MESH:D018216"^^xsd:string) "A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "OMIA:001214"^^xsd:string) AnnotationAssertion( "MESH:D018216"^^xsd:string) AnnotationAssertion( "Osteochondromatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005285"^^xsd:string) AnnotationAssertion(rdfs:label "Osteochondromatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reardon Hall Slaney syndrome) AnnotationAssertion( "MESH:C535294"^^xsd:string) AnnotationAssertion( "RDO:0000322"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005286"^^xsd:string) AnnotationAssertion(rdfs:label "Reardon Hall Slaney syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis) AnnotationAssertion( "MIM:612714"^^xsd:string) AnnotationAssertion( "MESH:C567195"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005288"^^xsd:string) AnnotationAssertion(rdfs:label "Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Water Intoxication) AnnotationAssertion(Annotation( "MESH:D014869"^^xsd:string) "A condition resulting from the excessive retention of water with sodium depletion."^^xsd:string) AnnotationAssertion( "MESH:D014869"^^xsd:string) AnnotationAssertion( "RDO:0006820"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005289"^^xsd:string) AnnotationAssertion(rdfs:label "Water Intoxication"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diabetes Mellitus, New-Onset after Transplantation) AnnotationAssertion( "A serious and common complication following solid organ transplantation. It is similar to type 2 diabetes mellitus, in that its pathophysiology involves insulin resistance."^^xsd:string) AnnotationAssertion( "RDO:9000020"^^xsd:string) AnnotationAssertion( "NODAT"^^xsd:string) AnnotationAssertion( "PTDM"^^xsd:string) AnnotationAssertion( "new-onset diabetes after transplantation"^^xsd:string) AnnotationAssertion( "post-transplant diabetes mellitus"^^xsd:string) AnnotationAssertion( "posttransplant diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005290"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetes Mellitus, New-Onset after Transplantation"^^xsd:string) SubClassOf( ) # Class: (Severe Infantile Axonal Neuropathy) AnnotationAssertion( "MESH:C537593"^^xsd:string) AnnotationAssertion( "RDO:0003462"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005291"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Infantile Axonal Neuropathy"^^xsd:string) SubClassOf( ) # Class: (Organophosphate Poisoning) AnnotationAssertion(Annotation( "MESH:D062025"^^xsd:string) "Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES."^^xsd:string) AnnotationAssertion( "EFO:0010581"^^xsd:string) AnnotationAssertion( "MESH:D062025"^^xsd:string) AnnotationAssertion( "Organophosphate Poisonings"^^xsd:string) AnnotationAssertion( "Organophosphorus Poisoning"^^xsd:string) AnnotationAssertion( "Organothiophosphate Poisoning"^^xsd:string) AnnotationAssertion( "Organothiophosphate Poisonings"^^xsd:string) AnnotationAssertion( "Organothiophosphonate Poisoning"^^xsd:string) AnnotationAssertion( "Organothiophosphonate Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005292"^^xsd:string) AnnotationAssertion(rdfs:label "Organophosphate Poisoning"^^xsd:string) SubClassOf( ) # Class: (Dentigerous Cyst) AnnotationAssertion(Annotation( "MESH:D003803"^^xsd:string) "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation."^^xsd:string) AnnotationAssertion( "MESH:D003803"^^xsd:string) AnnotationAssertion( "RDO:0005339"^^xsd:string) AnnotationAssertion( "Dentigerous Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005293"^^xsd:string) AnnotationAssertion(rdfs:label "Dentigerous Cyst"^^xsd:string) SubClassOf( ) # Class: (Hydrothorax) AnnotationAssertion(Annotation( "MESH:D006876"^^xsd:string) "A collection of watery fluid in the pleural cavity. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D006876"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005294"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrothorax"^^xsd:string) SubClassOf( ) # Class: (Viral Eye Infections) AnnotationAssertion(Annotation( "MESH:D015828"^^xsd:string) "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus."^^xsd:string) AnnotationAssertion( "MESH:D015828"^^xsd:string) AnnotationAssertion( "Viral Ocular Infection"^^xsd:string) AnnotationAssertion( "viral eye infection"^^xsd:string) AnnotationAssertion( "viral ocular infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005295"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Eye Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Flea Infestations) AnnotationAssertion(Annotation( "MESH:D058267"^^xsd:string) "Parasitic attack by members of the order SIPHONAPTERA."^^xsd:string) AnnotationAssertion( "MESH:D058267"^^xsd:string) AnnotationAssertion( "Flea Infestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005296"^^xsd:string) AnnotationAssertion(rdfs:label "Flea Infestations"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 117) AnnotationAssertion(Annotation( "MIM:620668"^^xsd:string) "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Caused by homozygous mutation in the IRF1 gene on chromosome 5q31."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:24:39Z"^^xsd:string) AnnotationAssertion( "MIM:620668"^^xsd:string) AnnotationAssertion( "IMD117"^^xsd:string) AnnotationAssertion( "Immunodeficiency 117, mycobacteriosis, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005297"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 117"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heart transplant rejection) AnnotationAssertion(Annotation( "EFO:0003046"^^xsd:string) "This is a body's response in rejecting a heart transplant. The immune system sees the donor heart as a foreign object and mounts an attack of the donor heart."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-12T11:20:45Z"^^xsd:string) AnnotationAssertion( "EFO:0003046"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005298"^^xsd:string) AnnotationAssertion(rdfs:label "heart transplant rejection"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 6) AnnotationAssertion( "RDO:9001373"^^xsd:string) AnnotationAssertion( "MIM:616413"^^xsd:string) AnnotationAssertion( "IBGC6"^^xsd:string) AnnotationAssertion( "XPR1-RELATED PRIMARY FAMILIAL BRAIN CALCIFICATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005299"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3) AnnotationAssertion( "MIM:613227"^^xsd:string) AnnotationAssertion( "MESH:C567690"^^xsd:string) AnnotationAssertion( "CAMRQ3"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, impaired intellectual development and dysequilibrium syndrome 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005300"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Hydatidiform Mole, Recurrent, 3) AnnotationAssertion( "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-3 (HYDM3) is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-11T17:21:30Z"^^xsd:string) AnnotationAssertion( "MIM:618431"^^xsd:string) AnnotationAssertion( "HYDM3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005301"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole, Recurrent, 3"^^xsd:string) SubClassOf( ) # Class: (Platelet-Type Bleeding Disorder 13) AnnotationAssertion( "MIM:614009"^^xsd:string) AnnotationAssertion( "MESH:C566055"^^xsd:string) AnnotationAssertion( "BDPLT13"^^xsd:string) AnnotationAssertion( "Bleeding Disorder due to Defective Thromboxane A2 Receptor"^^xsd:string) AnnotationAssertion( "IMPAIRED THROMBOXANE A2 AGONIST-INDUCED PLATELET AGGREGATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR"^^xsd:string) AnnotationAssertion( "PLATELET-TYPE BLEEDING DISORDER 13, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9005302"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Type Bleeding Disorder 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Grouped Pigmentation of the Macula) AnnotationAssertion( "MIM:233800"^^xsd:string) AnnotationAssertion( "MESH:C565530"^^xsd:string) AnnotationAssertion( "Grouped Pigmentation of Retinal Pigment Epithelium"^^xsd:string) AnnotationAssertion( "Grouped Pigmentation of the Retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005303"^^xsd:string) AnnotationAssertion(rdfs:label "Grouped Pigmentation of the Macula"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fetal Membranes, Premature Rupture) AnnotationAssertion(Annotation( "MESH:D005322"^^xsd:string) "Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION."^^xsd:string) AnnotationAssertion( "MESH:D005322"^^xsd:string) AnnotationAssertion( "RDO:0005206"^^xsd:string) AnnotationAssertion( "Membrane Premature Rupture (Pregnancy)"^^xsd:string) AnnotationAssertion( "Membrane Premature Ruptures (Pregnancy)"^^xsd:string) AnnotationAssertion( "PROM (Pregnancy)"^^xsd:string) AnnotationAssertion( "Premature Rupture of Fetal Membranes"^^xsd:string) AnnotationAssertion( "Premature Rupture of Membrane (Pregnancy)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005304"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Membranes, Premature Rupture"^^xsd:string) SubClassOf( ) # Class: (Muscular Dystrophy, Cardiac Type) AnnotationAssertion( "MIM:309930"^^xsd:string) AnnotationAssertion( "RDO:0012575"^^xsd:string) AnnotationAssertion( "MESH:C563247"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005305"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Cardiac Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (soft tissue disease) AnnotationAssertion(Annotation( "EFO:0009470"^^xsd:string) "This is a disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T17:10:15Z"^^xsd:string) AnnotationAssertion( "EFO:0009470"^^xsd:string) AnnotationAssertion( "non-bone connective tissue disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005306"^^xsd:string) AnnotationAssertion(rdfs:label "soft tissue disease"^^xsd:string) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 3) AnnotationAssertion( "An autosomal recessive disorder characterized by onset of pancytopenia in early childhood."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617052"^^xsd:string) AnnotationAssertion( "BMFS3"^^xsd:string) AnnotationAssertion( "DNAJC21-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005307"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Hypercholesterolemia, Autosomal Dominant, 3) AnnotationAssertion( "MIM:603776"^^xsd:string) AnnotationAssertion( "MESH:C566337"^^xsd:string) AnnotationAssertion( "FH3"^^xsd:string) AnnotationAssertion( "FHCL3"^^xsd:string) AnnotationAssertion( "HCHOLA3"^^xsd:string) AnnotationAssertion( "PCSK9-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "familial hypercholesterolemia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005308"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercholesterolemia, Autosomal Dominant, 3"^^xsd:string) SubClassOf( ) # Class: (Congenital Methemoglobinemia) AnnotationAssertion( "MESH:C580280"^^xsd:string) AnnotationAssertion( "RDO:0015908"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005309"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Methemoglobinemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spermatogenic Failure 77) AnnotationAssertion(Annotation( "MIM:620103"^^xsd:string) "Male infertility due to extreme oligozoospermia or azoospermia. Caused by homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-27T13:53:28Z"^^xsd:string) AnnotationAssertion( "MIM:620103"^^xsd:string) AnnotationAssertion( "SPGF77"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005311"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 77"^^xsd:string) SubClassOf( ) # Class: (Muscular Dystrophy, Hemizygous Lethal Type) AnnotationAssertion( "MIM:309950"^^xsd:string) AnnotationAssertion( "RDO:0013170"^^xsd:string) AnnotationAssertion( "MESH:C564097"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005312"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Hemizygous Lethal Type"^^xsd:string) SubClassOf( ) # Class: (Palatal Neoplasms) AnnotationAssertion(Annotation( "MESH:D010157"^^xsd:string) "Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA."^^xsd:string) AnnotationAssertion( "EFO:0003849"^^xsd:string) AnnotationAssertion( "MESH:D010157"^^xsd:string) AnnotationAssertion( "Palatal Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005313"^^xsd:string) AnnotationAssertion(rdfs:label "Palatal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Laterality Defects, Autosomal Dominant) AnnotationAssertion( "MIM:601086"^^xsd:string) AnnotationAssertion( "MESH:C563391"^^xsd:string) AnnotationAssertion( "RDO:0012658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005315"^^xsd:string) AnnotationAssertion(rdfs:label "Laterality Defects, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Radius Fractures) AnnotationAssertion(Annotation( "MESH:D011885"^^xsd:string) "Fractures of the RADIUS."^^xsd:string) AnnotationAssertion( "EFO:0003957"^^xsd:string) AnnotationAssertion( "MESH:D011885"^^xsd:string) AnnotationAssertion( "Radius Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005316"^^xsd:string) AnnotationAssertion(rdfs:label "Radius Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Slavotinek Pike Mills Hurst Syndrome) AnnotationAssertion( "MESH:C536672"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005317"^^xsd:string) AnnotationAssertion(rdfs:label "Slavotinek Pike Mills Hurst Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Caroli Disease) AnnotationAssertion( "MIM:600643"^^xsd:string) AnnotationAssertion( "MESH:C531647"^^xsd:string) AnnotationAssertion( "Congenital polycystic dilatation of intrahepatic bile ducts"^^xsd:string) AnnotationAssertion( "Cystic dilatation of the intrahepatic biliary tree"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005318"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Caroli Disease"^^xsd:string) SubClassOf( ) # Class: (Hemolytic Anemia due to Adenylate Kinase Deficiency) AnnotationAssertion( "MESH:C567228"^^xsd:string) AnnotationAssertion( "MIM:612631"^^xsd:string) AnnotationAssertion( "MONDO:0012967"^^xsd:string) AnnotationAssertion( "ORDO:86817"^^xsd:string) AnnotationAssertion( "ADENYLATE KINASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005319"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolytic Anemia due to Adenylate Kinase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Malignant Fever) AnnotationAssertion( "MESH:C531737"^^xsd:string) AnnotationAssertion( "Fulminating hyperpyrexia"^^xsd:string) AnnotationAssertion( "Pharmacogenic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005320"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Fever"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kuster Majewski Hammerstein Syndrome) AnnotationAssertion( "MESH:C538125"^^xsd:string) AnnotationAssertion( "Alopecia macular degeneration growth retardation"^^xsd:string) AnnotationAssertion( "Alopecia, macular degeneration, and growth retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005322"^^xsd:string) AnnotationAssertion(rdfs:label "Kuster Majewski Hammerstein Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Out-of-Hospital Cardiac Arrest) AnnotationAssertion(Annotation( "MESH:D058687"^^xsd:string) "Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment."^^xsd:string) AnnotationAssertion( "MESH:D058687"^^xsd:string) AnnotationAssertion( "Out of Hospital Heart Arrest"^^xsd:string) AnnotationAssertion( "Out-of-Hospital Cardiac Arrests"^^xsd:string) AnnotationAssertion( "Out-of-Hospital Heart Arrests"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005323"^^xsd:string) AnnotationAssertion(rdfs:label "Out-of-Hospital Cardiac Arrest"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Calcifying Odontogenic Cyst) AnnotationAssertion(Annotation( "MESH:D018333"^^xsd:string) "A mixed radiolucent-radiopaque lesion of the jaws with features of both a cyst and a solid neoplasm. It is characterized microscopically by an epithelial lining showing a palisaded layer of columnar basal cells, presence of ghost cell keratinization, dentinoid, and calcification. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D018333"^^xsd:string) AnnotationAssertion( "Calcifying Odontogenic Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005326"^^xsd:string) AnnotationAssertion(rdfs:label "Calcifying Odontogenic Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycogen Storage Disease XIII) AnnotationAssertion( "MIM:612932"^^xsd:string) AnnotationAssertion( "MESH:C567861"^^xsd:string) AnnotationAssertion( "Enolase 3 Deficiency"^^xsd:string) AnnotationAssertion( "Enolase-Beta Deficiency"^^xsd:string) AnnotationAssertion( "GSD XIII"^^xsd:string) AnnotationAssertion( "GSD13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005328"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease XIII"^^xsd:string) SubClassOf( ) # Class: (Preaxial Polydactyly) AnnotationAssertion( "Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-07-03T15:01:50Z"^^xsd:string) AnnotationAssertion( "MIM:PS174400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005329"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Virilism) AnnotationAssertion(Annotation( "MESH:D014770"^^xsd:string) "Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs."^^xsd:string) AnnotationAssertion( "MESH:D014770"^^xsd:string) AnnotationAssertion( "Androgenization"^^xsd:string) AnnotationAssertion( "Virilization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005330"^^xsd:string) AnnotationAssertion(rdfs:label "Virilism"^^xsd:string) SubClassOf( ) # Class: (Severe Recurrent Varicella) AnnotationAssertion( "MIM:600670"^^xsd:string) AnnotationAssertion( "MESH:C563458"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005331"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Recurrent Varicella"^^xsd:string) SubClassOf( ) # Class: (Spontaneous Coronary Artery Dissection) AnnotationAssertion( "MIM:122455"^^xsd:string) AnnotationAssertion( "EFO:0010820"^^xsd:string) AnnotationAssertion( "MESH:C565153"^^xsd:string) AnnotationAssertion( "NCI:C165532"^^xsd:string) AnnotationAssertion( "ORDO:458718"^^xsd:string) AnnotationAssertion( "idiopathic SCAD"^^xsd:string) AnnotationAssertion( "idiopathic spontaneous coronary artery dissection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005332"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Coronary Artery Dissection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adams-Oliver Syndrome 6) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616589"^^xsd:string) AnnotationAssertion( "AOS6"^^xsd:string) AnnotationAssertion( "DLL4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005333"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Radicular Cyst) AnnotationAssertion(Annotation( "MESH:D011842"^^xsd:string) "Slow-growing fluid-filled epithelial sac at the apex of a tooth with a nonvital pulp or defective root canal filling."^^xsd:string) AnnotationAssertion( "MESH:D011842"^^xsd:string) AnnotationAssertion( "RDO:0006453"^^xsd:string) AnnotationAssertion( "Apical Periodontal Cyst"^^xsd:string) AnnotationAssertion( "Apical Periodontal Cysts"^^xsd:string) AnnotationAssertion( "Periapical Cyst"^^xsd:string) AnnotationAssertion( "Periapical Cysts"^^xsd:string) AnnotationAssertion( "Radicular Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005334"^^xsd:string) AnnotationAssertion(rdfs:label "Radicular Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebral Visual Impairment and Intellectual Disability) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005335"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Visual Impairment and Intellectual Disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Focal Alopecia) AnnotationAssertion( "MIM:104110"^^xsd:string) AnnotationAssertion( "MESH:C566301"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005336"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Focal Alopecia"^^xsd:string) SubClassOf( ) # Class: (Needlestick Injuries) AnnotationAssertion(Annotation( "MESH:D016602"^^xsd:string) "Penetrating stab wounds caused by needles. They are of special concern to health care workers since such injuries put them at risk for developing infectious disease."^^xsd:string) AnnotationAssertion( "MESH:D016602"^^xsd:string) AnnotationAssertion( "RDO:0006979"^^xsd:string) AnnotationAssertion( "Needle Stick Injuries"^^xsd:string) AnnotationAssertion( "Needle Sticks"^^xsd:string) AnnotationAssertion( "Needle-Stick"^^xsd:string) AnnotationAssertion( "Needle-Stick Injury"^^xsd:string) AnnotationAssertion( "Needlestick"^^xsd:string) AnnotationAssertion( "Needlestick Injury"^^xsd:string) AnnotationAssertion( "Needlesticks"^^xsd:string) AnnotationAssertion( "Sharps Injuries"^^xsd:string) AnnotationAssertion( "Sharps Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005337"^^xsd:string) AnnotationAssertion(rdfs:label "Needlestick Injuries"^^xsd:string) SubClassOf( ) # Class: (Isolated Microphthalmia with Coloboma 4) AnnotationAssertion( "MIM:251505"^^xsd:string) AnnotationAssertion( "MESH:C565378"^^xsd:string) AnnotationAssertion( "MCOPCB4"^^xsd:string) AnnotationAssertion( "Microphthalmia With Colobomatous Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005338"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Coloboma 4"^^xsd:string) SubClassOf( ) # Class: (Rhizomelic Dysplasia Patterson Lowry Type) AnnotationAssertion( "MIM:601438"^^xsd:string) AnnotationAssertion( "MESH:C537609"^^xsd:string) AnnotationAssertion( "Patterson Lowry syndrome"^^xsd:string) AnnotationAssertion( "Patterson-Lowry rhizomelic dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005339"^^xsd:string) AnnotationAssertion(rdfs:label "Rhizomelic Dysplasia Patterson Lowry Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease) AnnotationAssertion( "MIM:602114"^^xsd:string) AnnotationAssertion( "MESH:C566573"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005340"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thanatophoric Dysplasia Glasgow Variant) AnnotationAssertion( "MIM:273680"^^xsd:string) AnnotationAssertion( "RDO:0002110"^^xsd:string) AnnotationAssertion( "MESH:C536506"^^xsd:string) AnnotationAssertion( "Neonatally lethal short-limb skeletal dysplasia, glasgow type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005341"^^xsd:string) AnnotationAssertion(rdfs:label "Thanatophoric Dysplasia Glasgow Variant"^^xsd:string) SubClassOf( ) # Class: (MacDermot Winter Syndrome) AnnotationAssertion( "MIM:247990"^^xsd:string) AnnotationAssertion( "MESH:C537714"^^xsd:string) AnnotationAssertion( "Prominent glabella microcephaly hypogenitalism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005342"^^xsd:string) AnnotationAssertion(rdfs:label "MacDermot Winter Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Splenic Neoplasms) AnnotationAssertion(Annotation( "MESH:D013160"^^xsd:string) "Tumors or cancer of the SPLEEN."^^xsd:string) AnnotationAssertion( "MESH:D013160"^^xsd:string) AnnotationAssertion( "spleen neoplasm"^^xsd:string) AnnotationAssertion( "spleen neoplasms"^^xsd:string) AnnotationAssertion( "splenic neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005343"^^xsd:string) AnnotationAssertion(rdfs:label "Splenic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency 1) AnnotationAssertion( "MIM:613038"^^xsd:string) AnnotationAssertion( "MESH:C567803"^^xsd:string) AnnotationAssertion( "CPHD1"^^xsd:string) AnnotationAssertion( "combined or isolated pituitary hormone deficiency 1"^^xsd:string) AnnotationAssertion( "combined pituitary hormone deficiency, dominant/recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005344"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spondyloocular Syndrome, Autosomal Recessive) AnnotationAssertion( "MIM:605822"^^xsd:string) AnnotationAssertion( "XYLT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C565285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005347"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloocular Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Three M Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:273750"^^xsd:string) AnnotationAssertion( "3M Syndrome 1"^^xsd:string) AnnotationAssertion( "3M1"^^xsd:string) AnnotationAssertion( "CUL7-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005349"^^xsd:string) AnnotationAssertion(rdfs:label "Three M Syndrome 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Persistent Cloaca) AnnotationAssertion( "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. (HP)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "anal and urogenital canal fusion"^^xsd:string) AnnotationAssertion( "anal fusion"^^xsd:string) AnnotationAssertion( "cloaca malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005351"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Cloaca"^^xsd:string) SubClassOf( ) # Class: (CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY) AnnotationAssertion(Annotation( "MIM:619466"^^xsd:string) "An autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Caused by homozygous mutation in the TP73 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-09T14:53:56Z"^^xsd:string) AnnotationAssertion( "MIM:619466"^^xsd:string) AnnotationAssertion( "CILD47"^^xsd:string) AnnotationAssertion( "Primary Ciliary Dyskinesia 47"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia-47 and lissencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005352"^^xsd:string) AnnotationAssertion(rdfs:label "CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Laplane Fontaine Lagardere Syndrome) AnnotationAssertion( "MIM:272450"^^xsd:string) AnnotationAssertion( "MESH:C537869"^^xsd:string) AnnotationAssertion( "Familial syndesmodysplasic dwarfism"^^xsd:string) AnnotationAssertion( "Syndesmodysplasic Dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005353"^^xsd:string) AnnotationAssertion(rdfs:label "Laplane Fontaine Lagardere Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypoparathyroidism, Autosomal Recessive) AnnotationAssertion( "MESH:C564148"^^xsd:string) AnnotationAssertion( "RDO:0013201"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005354"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoparathyroidism, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Microdontia Hypodontia Short Stature) AnnotationAssertion( "MESH:C537553"^^xsd:string) AnnotationAssertion( "RDO:0003414"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005355"^^xsd:string) AnnotationAssertion(rdfs:label "Microdontia Hypodontia Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1) AnnotationAssertion(Annotation( "MIM:619758"^^xsd:string) "This disease is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-29T14:08:25Z"^^xsd:string) AnnotationAssertion( "MIM:619758"^^xsd:string) AnnotationAssertion( "HIST1H4C-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "TEBIVANED1"^^xsd:string) AnnotationAssertion( "TEVANED1"^^xsd:string) AnnotationAssertion( "Tessadori-van Haaften Neurodevelopmental Syndrome 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005356"^^xsd:string) AnnotationAssertion(rdfs:label "Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Orofaciodigital Syndrome XV) AnnotationAssertion( "RDO:0016181"^^xsd:string) AnnotationAssertion( "MIM:617127"^^xsd:string) AnnotationAssertion( "OFD15"^^xsd:string) AnnotationAssertion( "OFDS XV"^^xsd:string) AnnotationAssertion( "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005357"^^xsd:string) AnnotationAssertion(rdfs:label "Orofaciodigital Syndrome XV"^^xsd:string) SubClassOf( ) # Class: (Hypergammaglobulinemia) AnnotationAssertion( "An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS."^^xsd:string) AnnotationAssertion( "DOID:2959"^^xsd:string) AnnotationAssertion( "MESH:D006942"^^xsd:string) AnnotationAssertion( "Hypergammaglobulinemia"^^xsd:string) AnnotationAssertion( "Hypergammaglobulinemias"^^xsd:string) AnnotationAssertion( "Hyperimmunoglobulinemia"^^xsd:string) AnnotationAssertion( "Hyperimmunoglobulinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005358"^^xsd:string) AnnotationAssertion(rdfs:label "Hypergammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Thrombophilia) AnnotationAssertion( "RDO:0004609"^^xsd:string) AnnotationAssertion( "MESH:C540694"^^xsd:string) AnnotationAssertion( "Factor VII Marburg I Variant Thrombophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005359"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Thrombophilia"^^xsd:string) SubClassOf( ) # Class: (Duane Retraction Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-02T08:48:50Z"^^xsd:string) AnnotationAssertion( "MAFB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617041"^^xsd:string) AnnotationAssertion( "DURS3"^^xsd:string) AnnotationAssertion( "Duane retraction syndrome 3 with or without deafness"^^xsd:string) AnnotationAssertion( "Duane retraction syndrome type 3"^^xsd:string) AnnotationAssertion( "Duane syndrome type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005360"^^xsd:string) AnnotationAssertion(rdfs:label "Duane Retraction Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Summitt Syndrome) AnnotationAssertion( "MIM:272350"^^xsd:string) AnnotationAssertion( "MESH:C538142"^^xsd:string) AnnotationAssertion( "Summitt's acrocephalosyndactyly"^^xsd:string) AnnotationAssertion( "recessive acrocephalosyndactyly with normal intelligence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005361"^^xsd:string) AnnotationAssertion(rdfs:label "Summitt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tracheobronchomegaly) AnnotationAssertion(Annotation( "MESH:D014137"^^xsd:string) "A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi."^^xsd:string) AnnotationAssertion( "MIM:275300"^^xsd:string) AnnotationAssertion( "MESH:D014137"^^xsd:string) AnnotationAssertion( "Congenital Tracheobronchomegalies"^^xsd:string) AnnotationAssertion( "Congenital Tracheobronchomegaly"^^xsd:string) AnnotationAssertion( "Mounier Kuhn Syndrome"^^xsd:string) AnnotationAssertion( "Tracheobronchomegalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005362"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheobronchomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Renal Hypodysplasia/Aplasia 4) AnnotationAssertion(Annotation( "MIM:619887"^^xsd:string) "This disease is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Caused by homozygous mutation in the GFRA1 gene on chromosome 10q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-31T07:39:16Z"^^xsd:string) AnnotationAssertion( "MIM:619887"^^xsd:string) AnnotationAssertion( "RHDA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005365"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypodysplasia/Aplasia 4"^^xsd:string) SubClassOf( ) # Class: (Hyperphosphatemic Familial Tumoral Calcinosis 3) AnnotationAssertion(Annotation( "MIM:617994"^^xsd:string) "A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T10:12:15Z"^^xsd:string) AnnotationAssertion( "EFO:0009384"^^xsd:string) AnnotationAssertion( "MIM:617994"^^xsd:string) AnnotationAssertion( "HFTC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005366"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphosphatemic Familial Tumoral Calcinosis 3"^^xsd:string) SubClassOf( ) # Class: (Arachnodactyly) AnnotationAssertion(Annotation( "MESH:D054119"^^xsd:string) "An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes."^^xsd:string) AnnotationAssertion( "MESH:D054119"^^xsd:string) AnnotationAssertion( "Arachnodactylies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005367"^^xsd:string) AnnotationAssertion(rdfs:label "Arachnodactyly"^^xsd:string) SubClassOf( ) # Class: (Game Friedman Paradice Syndrome) AnnotationAssertion( "MESH:C535406"^^xsd:string) AnnotationAssertion( "RDO:0000507"^^xsd:string) AnnotationAssertion( "Hydrocephalus with associated malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005368"^^xsd:string) AnnotationAssertion(rdfs:label "Game Friedman Paradice Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hepatomegaly) AnnotationAssertion(Annotation( "MESH:D006529"^^xsd:string) "Enlargement of the liver."^^xsd:string) AnnotationAssertion( "MESH:D006529"^^xsd:string) AnnotationAssertion( "Enlarged Liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005369"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatomegaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Post-Dural Puncture Headache) AnnotationAssertion(Annotation( "MESH:D051299"^^xsd:string) "A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture."^^xsd:string) AnnotationAssertion( "MESH:D051299"^^xsd:string) AnnotationAssertion( "RDO:0007579"^^xsd:string) AnnotationAssertion( "Post-Dural Puncture Headaches"^^xsd:string) AnnotationAssertion( "Post-Lumbar Puncture Headache"^^xsd:string) AnnotationAssertion( "Postdural Puncture Headache"^^xsd:string) AnnotationAssertion( "Postdural Puncture Headaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005370"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Dural Puncture Headache"^^xsd:string) SubClassOf( ) # Class: (Hydrocolpos) AnnotationAssertion(Annotation( "MESH:D052202"^^xsd:string) "A fluid-filled VAGINA that is obstructed."^^xsd:string) AnnotationAssertion( "MESH:D052202"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005371"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrocolpos"^^xsd:string) SubClassOf( ) # Class: (Inflammation) AnnotationAssertion(Annotation( "MESH:D007249"^^xsd:string) "A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function."^^xsd:string) AnnotationAssertion( "EFO:0003838"^^xsd:string) AnnotationAssertion( "EFO:0009903"^^xsd:string) AnnotationAssertion( "MESH:D007249"^^xsd:string) AnnotationAssertion( "Inflammations"^^xsd:string) AnnotationAssertion( "inflammatory disease"^^xsd:string) AnnotationAssertion( "acute inflammation"^^xsd:string) AnnotationAssertion( "chronic inflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005372"^^xsd:string) AnnotationAssertion(rdfs:label "Inflammation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Tubulointerstitial Kidney Disease 4) AnnotationAssertion( "MIM:613092"^^xsd:string) AnnotationAssertion( "REN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567760"^^xsd:string) AnnotationAssertion( "ADTKD4"^^xsd:string) AnnotationAssertion( "HNFJ2"^^xsd:string) AnnotationAssertion( "REN-related kidney disease"^^xsd:string) AnnotationAssertion( "early-onset hyperuricemia, anemia, and progressive kidney failure"^^xsd:string) AnnotationAssertion( "familial juvenile hyperuricemic nephropathy 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005373"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Tubulointerstitial Kidney Disease 4"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diarrhea 13) AnnotationAssertion(Annotation( "MIM:620357"^^xsd:string) "A disease characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Caused by homozygous mutation in the ACSL5 gene on chromosome 10q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-01T09:01:14Z"^^xsd:string) AnnotationAssertion( "MIM:620357"^^xsd:string) AnnotationAssertion( "DIAR13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005374"^^xsd:string) AnnotationAssertion(rdfs:label "Diarrhea 13"^^xsd:string) SubClassOf( ) # Class: (Peste-des-Petits-Ruminants) AnnotationAssertion(Annotation( "MESH:D029021"^^xsd:string) "A highly fatal contagious disease of goats and sheep caused by PESTE-DES-PETITS-RUMINANTS VIRUS. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia."^^xsd:string) AnnotationAssertion( "EFO:0007431"^^xsd:string) AnnotationAssertion( "MESH:D029021"^^xsd:string) AnnotationAssertion( "Goat plague"^^xsd:string) AnnotationAssertion( "Ovine rinderpest"^^xsd:string) AnnotationAssertion( "PPR"^^xsd:string) AnnotationAssertion( "Pseudorinderpest"^^xsd:string) AnnotationAssertion( "Stomatitis-Pneumoenteritis Syndrome"^^xsd:string) AnnotationAssertion( "peste des petits ruminants infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005375"^^xsd:string) AnnotationAssertion(rdfs:label "Peste-des-Petits-Ruminants"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ophthalmoplegia, Familial Total, with Iris Transillumination) AnnotationAssertion( "MIM:165098"^^xsd:string) AnnotationAssertion( "MESH:C563499"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005376"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmoplegia, Familial Total, with Iris Transillumination"^^xsd:string) SubClassOf( ) # Class: (Complement Factor H Deficiency) AnnotationAssertion( "MIM:609814"^^xsd:string) AnnotationAssertion( "MESH:C562875"^^xsd:string) AnnotationAssertion( "C3 glomerulopathy 1"^^xsd:string) AnnotationAssertion( "C3G1"^^xsd:string) AnnotationAssertion( "CFH Deficiency"^^xsd:string) AnnotationAssertion( "CFHD"^^xsd:string) AnnotationAssertion( "Factor H Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005377"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Factor H Deficiency"^^xsd:string) SubClassOf( ) # Class: (AREDYLD Syndrome) AnnotationAssertion( "MIM:207780"^^xsd:string) AnnotationAssertion( "MESH:C537427"^^xsd:string) AnnotationAssertion( "AREDYLD"^^xsd:string) AnnotationAssertion( "Acral renal ectodermal dysplasia lipoatrophic diabetes"^^xsd:string) AnnotationAssertion( "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005378"^^xsd:string) AnnotationAssertion(rdfs:label "AREDYLD Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bilateral Kienbock's Disease) AnnotationAssertion( "MESH:C538558"^^xsd:string) AnnotationAssertion( "RDO:0004500"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005379"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Kienbock's Disease"^^xsd:string) SubClassOf( ) # Class: (Chromosome 22 Ring) AnnotationAssertion( "MESH:C536795"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005380"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 22 Ring"^^xsd:string) SubClassOf( ) # Class: (Kozlowski Ouvrier Syndrome) AnnotationAssertion( "MESH:C537508"^^xsd:string) AnnotationAssertion( "Agenesis of the corpus callosum with mental retardation and osseous lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005381"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski Ouvrier Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Acute Leukemia) AnnotationAssertion( "MIM:308960"^^xsd:string) AnnotationAssertion( "MESH:C564112"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005382"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Acute Leukemia"^^xsd:string) SubClassOf( ) # Class: (Davenport Donlan Syndrome) AnnotationAssertion( "RDO:0001384"^^xsd:string) AnnotationAssertion( "MESH:C535988"^^xsd:string) AnnotationAssertion( "Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005383"^^xsd:string) AnnotationAssertion(rdfs:label "Davenport Donlan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adult Cerebral Astrocytoma) AnnotationAssertion( "RDO:0000430"^^xsd:string) AnnotationAssertion( "MESH:C535354"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005384"^^xsd:string) AnnotationAssertion(rdfs:label "Adult Cerebral Astrocytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage) AnnotationAssertion( "MESH:C567272"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005387"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage"^^xsd:string) SubClassOf( ) # Class: (Immune Reconstitution Inflammatory Syndrome) AnnotationAssertion(Annotation( "MESH:D054019"^^xsd:string) "Exuberant inflammatory response towards previously undiagnosed or incubating opportunistic pathogens. It is frequently seen in AIDS patients following HAART."^^xsd:string) AnnotationAssertion( "MESH:D054019"^^xsd:string) AnnotationAssertion( "RDO:0007642"^^xsd:string) AnnotationAssertion( "Immune Reconstitution Disease"^^xsd:string) AnnotationAssertion( "Immune Reconstitution Syndrome"^^xsd:string) AnnotationAssertion( "Immune Reconstitution Syndromes"^^xsd:string) AnnotationAssertion( "Immune Restoration Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005388"^^xsd:string) AnnotationAssertion(rdfs:label "Immune Reconstitution Inflammatory Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oculocutaneous Albinism Type I, Temperature-Sensitive) AnnotationAssertion( "TYR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564645"^^xsd:string) AnnotationAssertion( "OCA1TS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005389"^^xsd:string) AnnotationAssertion(rdfs:label "Oculocutaneous Albinism Type I, Temperature-Sensitive"^^xsd:string) SubClassOf( ) # Class: (Dextro-Looped Transposition of the Great Arteries 2) AnnotationAssertion( "DTGA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005390"^^xsd:string) AnnotationAssertion(rdfs:label "Dextro-Looped Transposition of the Great Arteries 2"^^xsd:string) SubClassOf( ) # Class: (Asthma, Short Stature, and Elevated IgA) AnnotationAssertion( "MIM:208600"^^xsd:string) AnnotationAssertion( "MESH:C565934"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005391"^^xsd:string) AnnotationAssertion(rdfs:label "Asthma, Short Stature, and Elevated IgA"^^xsd:string) SubClassOf( ) # Class: (Familial Atrial Fibrillation 4) AnnotationAssertion( "MIM:611493"^^xsd:string) AnnotationAssertion( "RDO:0014652"^^xsd:string) AnnotationAssertion( "KCNE2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C566244"^^xsd:string) AnnotationAssertion( "ATFB4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005392"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 4"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy) AnnotationAssertion( "MESH:C566299"^^xsd:string) AnnotationAssertion( "Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005393"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy"^^xsd:string) SubClassOf( ) # Class: (Papular Urticaria) AnnotationAssertion( "MESH:C537169"^^xsd:string) AnnotationAssertion( "Bullous papular urticaria - type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005394"^^xsd:string) AnnotationAssertion(rdfs:label "Papular Urticaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Deafness-Craniofacial Syndrome) AnnotationAssertion( "MIM:125230"^^xsd:string) AnnotationAssertion( "MESH:C565118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005395"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness-Craniofacial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intimal Hyperplasia) AnnotationAssertion( "The process by which the cell population increases within the innermost layer of the arterial wall, occurring pathologically in pulmonary hypertension, atherosclerosis, after angioplasty, in transplanted organs, and in vein grafts."^^xsd:string) AnnotationAssertion( "EFO:0009652"^^xsd:string) AnnotationAssertion( "neointimal hyperplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005396"^^xsd:string) AnnotationAssertion(rdfs:label "Intimal Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Diastasis Recti and Weakness of the Linea Alba) AnnotationAssertion( "MIM:612198"^^xsd:string) AnnotationAssertion( "MESH:C567402"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005397"^^xsd:string) AnnotationAssertion(rdfs:label "Diastasis Recti and Weakness of the Linea Alba"^^xsd:string) SubClassOf( ) # Class: (Hammer Toe Syndrome) AnnotationAssertion(Annotation( "MESH:D037801"^^xsd:string) "A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe."^^xsd:string) AnnotationAssertion( "EFO:1001336"^^xsd:string) AnnotationAssertion( "MESH:D037801"^^xsd:string) AnnotationAssertion( "RDO:0007493"^^xsd:string) AnnotationAssertion( "Claw Toe"^^xsd:string) AnnotationAssertion( "Claw Toes"^^xsd:string) AnnotationAssertion( "Clawtoe"^^xsd:string) AnnotationAssertion( "Clawtoes"^^xsd:string) AnnotationAssertion( "Hammer Toe"^^xsd:string) AnnotationAssertion( "Hammer Toes"^^xsd:string) AnnotationAssertion( "Hammertoe Syndrome"^^xsd:string) AnnotationAssertion( "Mallet Toe"^^xsd:string) AnnotationAssertion( "Mallet Toes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005398"^^xsd:string) AnnotationAssertion(rdfs:label "Hammer Toe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619694"^^xsd:string) "This disease is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-11T10:54:46Z"^^xsd:string) AnnotationAssertion( "MIM:619694"^^xsd:string) AnnotationAssertion( "DENBA"^^xsd:string) AnnotationAssertion( "LMBRD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005399"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 8 Deletion) AnnotationAssertion( "MESH:C537823"^^xsd:string) AnnotationAssertion( "Deletions of chromosome 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005401"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8 Deletion"^^xsd:string) SubClassOf( ) # Class: (Familial Cirrhosis with Pulmonary Hypertension) AnnotationAssertion( "MESH:C562580"^^xsd:string) AnnotationAssertion( "Indian Childhood Cirrhosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005402"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cirrhosis with Pulmonary Hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinol-Binding Protein Deficiency) AnnotationAssertion( "MESH:C566711"^^xsd:string) AnnotationAssertion( "RDO:0014987"^^xsd:string) AnnotationAssertion( "Familial Hypo-RBP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005403"^^xsd:string) AnnotationAssertion(rdfs:label "Retinol-Binding Protein Deficiency"^^xsd:string) SubClassOf( ) # Class: (Fractures, Comminuted) AnnotationAssertion(Annotation( "MESH:D018460"^^xsd:string) "A fracture in which the bone is splintered or crushed into a number of pieces."^^xsd:string) AnnotationAssertion( "MESH:D018460"^^xsd:string) AnnotationAssertion( "RDO:0007206"^^xsd:string) AnnotationAssertion( "Comminuted Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005404"^^xsd:string) AnnotationAssertion(rdfs:label "Fractures, Comminuted"^^xsd:string) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 49) AnnotationAssertion(Annotation( "MIM:620197"^^xsd:string) "An autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Caused by compound heterozygous mutation in the CFAP74 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-16T10:23:56Z"^^xsd:string) AnnotationAssertion( "MIM:620197"^^xsd:string) AnnotationAssertion( "CILD49"^^xsd:string) AnnotationAssertion( "primary ciliary dyskinesia-49 without situs inversus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005405"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 49"^^xsd:string) SubClassOf( ) # Class: (Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth) AnnotationAssertion( "MIM:602340"^^xsd:string) AnnotationAssertion( "MESH:C566560"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005406"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ameloblastic Carcinoma) AnnotationAssertion(Annotation( "NCI:C7492"^^xsd:string) "This is a malignant neoplasm arising from tooth-forming tissues with-enamel organ differentiation, but without enamel formation. It is a cytologically malignant ameloblastoma that may metastasize."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-16T18:07:31Z"^^xsd:string) AnnotationAssertion( "EFO:1000078"^^xsd:string) AnnotationAssertion( "odontoma, ameloblastic, malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005407"^^xsd:string) AnnotationAssertion(rdfs:label "Ameloblastic Carcinoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 10, Trisomy 10p) AnnotationAssertion( "MESH:C538290"^^xsd:string) AnnotationAssertion( "Duplication 10p"^^xsd:string) AnnotationAssertion( "Trisomy 10p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005409"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10, Trisomy 10p"^^xsd:string) SubClassOf( ) # Class: (Chromosome 22, Trisomy q11 q13) AnnotationAssertion( "MESH:C536800"^^xsd:string) AnnotationAssertion( "RDO:0002491"^^xsd:string) AnnotationAssertion( "Duplication 22q11 q13"^^xsd:string) AnnotationAssertion( "Trisomy 22q11 q13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005410"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 22, Trisomy q11 q13"^^xsd:string) SubClassOf( ) # Class: (Complement Component C1r/C1s Deficiency) AnnotationAssertion( "MIM:216950"^^xsd:string) AnnotationAssertion( "C1r/C1s DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005411"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Component C1r/C1s Deficiency"^^xsd:string) SubClassOf( ) # Class: (Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder) AnnotationAssertion( "MESH:C564427"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005412"^^xsd:string) AnnotationAssertion(rdfs:label "Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Macular Dystrophy, Fenestrated Sheen Type) AnnotationAssertion( "MIM:153890"^^xsd:string) AnnotationAssertion( "MESH:C563607"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005414"^^xsd:string) AnnotationAssertion(rdfs:label "Macular Dystrophy, Fenestrated Sheen Type"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619512"^^xsd:string) "This disease is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T13:14:40Z"^^xsd:string) AnnotationAssertion( "MIM:619512"^^xsd:string) AnnotationAssertion( "NEDHYBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005415"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Synkinesis) AnnotationAssertion(Annotation( "MESH:D046608"^^xsd:string) "An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS."^^xsd:string) AnnotationAssertion( "MESH:D046608"^^xsd:string) AnnotationAssertion( "Synkineses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005416"^^xsd:string) AnnotationAssertion(rdfs:label "Synkinesis"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease, Dominant Intermediate 3) AnnotationAssertion( "MESH:C535401"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005417"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease, Dominant Intermediate 3"^^xsd:string) SubClassOf( ) # Class: (Focal Facial Dermal Dysplasia 1) AnnotationAssertion( "MIM:136500"^^xsd:string) AnnotationAssertion( "Bitemporal aplasia cutis congenita"^^xsd:string) AnnotationAssertion( "Brauer syndrome"^^xsd:string) AnnotationAssertion( "FFDD, type 1"^^xsd:string) AnnotationAssertion( "FFDD1"^^xsd:string) AnnotationAssertion( "Focal facial dermal dysplasia 1, Brauer type"^^xsd:string) AnnotationAssertion( "Hereditary symmetrical aplastic nevi of temples"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005418"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Facial Dermal Dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Moyamoya Disease 7) AnnotationAssertion(Annotation( "MIM:620687"^^xsd:string) "A cerebrovascular disease that leads to strokes and neurologic deficits. Caused by heterozygous mutation in the ANO1 gene on chromosome 11q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:53:11Z"^^xsd:string) AnnotationAssertion( "MIM:620687"^^xsd:string) AnnotationAssertion( "MYMY7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005419"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 7"^^xsd:string) SubClassOf( ) # Class: (Peripheral Arterial Occlusive Disease 1) AnnotationAssertion( "MIM:606787"^^xsd:string) AnnotationAssertion( "MESH:C564658"^^xsd:string) AnnotationAssertion( "RDO:0013543"^^xsd:string) AnnotationAssertion( "PAOD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005420"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Arterial Occlusive Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia) AnnotationAssertion( "MIM:601348"^^xsd:string) AnnotationAssertion( "MESH:C563344"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005422"^^xsd:string) AnnotationAssertion(rdfs:label "Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aplasia Cutis Congenita with Intestinal Lymphangiectasia) AnnotationAssertion( "MIM:207731"^^xsd:string) AnnotationAssertion( "MESH:C537788"^^xsd:string) AnnotationAssertion( "ACC with intestinal lymphangiectasia"^^xsd:string) AnnotationAssertion( "Aplasia Cutis Congenita, Intestinal Lymphangiectasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005423"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia Cutis Congenita with Intestinal Lymphangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neoplasms by Site) AnnotationAssertion(Annotation( "MESH:D009371"^^xsd:string) "A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc."^^xsd:string) AnnotationAssertion( "MESH:D009371"^^xsd:string) AnnotationAssertion( "Neoplasm Site"^^xsd:string) AnnotationAssertion( "Neoplasm Sites"^^xsd:string) AnnotationAssertion( "Neoplasms by Sites"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005424"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasms by Site"^^xsd:string) SubClassOf( ) # Class: (Microcornea Corectopia Macular Hypoplasia) AnnotationAssertion( "MESH:C537551"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005425"^^xsd:string) AnnotationAssertion(rdfs:label "Microcornea Corectopia Macular Hypoplasia"^^xsd:string) SubClassOf( ) # Class: (Passovoy Factor) AnnotationAssertion( "MIM:168830"^^xsd:string) AnnotationAssertion( "MESH:C566820"^^xsd:string) AnnotationAssertion( "Passovoy factor defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005426"^^xsd:string) AnnotationAssertion(rdfs:label "Passovoy Factor"^^xsd:string) SubClassOf( ) # Class: (Necrolytic Migratory Erythema) AnnotationAssertion(Annotation( "MESH:D058568"^^xsd:string) "Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome."^^xsd:string) AnnotationAssertion( "MESH:D058568"^^xsd:string) AnnotationAssertion( "necrolytic migratory erythemas"^^xsd:string) AnnotationAssertion( "pseudoglucagonoma syndrome"^^xsd:string) AnnotationAssertion( "pseudoglucagonoma syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005427"^^xsd:string) AnnotationAssertion(rdfs:label "Necrolytic Migratory Erythema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polyosteolysis-Hyperostosis Syndrome) AnnotationAssertion( "MIM:610830"^^xsd:string) AnnotationAssertion( "MESH:C563658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005428"^^xsd:string) AnnotationAssertion(rdfs:label "Polyosteolysis-Hyperostosis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ramos Arroyo Clark Syndrome) AnnotationAssertion( "MIM:122430"^^xsd:string) AnnotationAssertion( "MESH:C535286"^^xsd:string) AnnotationAssertion( "Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation"^^xsd:string) AnnotationAssertion( "Ramos Arroyo Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005429"^^xsd:string) AnnotationAssertion(rdfs:label "Ramos Arroyo Clark Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Proximal Myopathy with Focal Depletion of Mitochondria) AnnotationAssertion( "MIM:600706"^^xsd:string) AnnotationAssertion( "MESH:C563453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005430"^^xsd:string) AnnotationAssertion(rdfs:label "Proximal Myopathy with Focal Depletion of Mitochondria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nasal Septal Perforation) AnnotationAssertion(Annotation( "MESH:D061270"^^xsd:string) "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process."^^xsd:string) AnnotationAssertion( "EFO:1001813"^^xsd:string) AnnotationAssertion( "MESH:D061270"^^xsd:string) AnnotationAssertion( "RDO:0010066"^^xsd:string) AnnotationAssertion( "Nasal Septal Perforations"^^xsd:string) AnnotationAssertion( "Nasal Septum Perforation"^^xsd:string) AnnotationAssertion( "Nasal Septum Perforations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005431"^^xsd:string) AnnotationAssertion(rdfs:label "Nasal Septal Perforation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oncogenic Osteomalacia) AnnotationAssertion( "MESH:C537751"^^xsd:string) AnnotationAssertion( "Tumor-induced osteomalacia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005432"^^xsd:string) AnnotationAssertion(rdfs:label "Oncogenic Osteomalacia"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY) AnnotationAssertion(Annotation( "MIM:618890"^^xsd:string) "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-10T11:56:55Z"^^xsd:string) AnnotationAssertion( "MIM:618890"^^xsd:string) AnnotationAssertion( "NEDBASS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005433"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 2, Monosomy 2p22) AnnotationAssertion( "MESH:C538313"^^xsd:string) AnnotationAssertion( "RDO:0004275"^^xsd:string) AnnotationAssertion( "Deletion 2p22"^^xsd:string) AnnotationAssertion( "Monosomy 2p22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005434"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Monosomy 2p22"^^xsd:string) SubClassOf( ) # Class: (Alpha-2-Macroglobulin Deficiency) AnnotationAssertion( "MIM:614036"^^xsd:string) AnnotationAssertion( "MESH:C566304"^^xsd:string) AnnotationAssertion( "A2MD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005435"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-2-Macroglobulin Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cutaneous Tuberculosis) AnnotationAssertion(Annotation( "MESH:D014382"^^xsd:string) "Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS."^^xsd:string) AnnotationAssertion( "EFO:1001443"^^xsd:string) AnnotationAssertion( "MESH:D014382"^^xsd:string) AnnotationAssertion( "MONDO:0021948"^^xsd:string) AnnotationAssertion( "Scrofuloderma"^^xsd:string) AnnotationAssertion( "Scrofulodermas"^^xsd:string) AnnotationAssertion( "Skin Tuberculoses"^^xsd:string) AnnotationAssertion( "Skin Tuberculosis"^^xsd:string) AnnotationAssertion( "Tuberculid"^^xsd:string) AnnotationAssertion( "cutaneous tuberculoses"^^xsd:string) AnnotationAssertion( "tuberculids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005437"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukemia L5178) AnnotationAssertion(Annotation( "MESH:D007940"^^xsd:string) "An experimental lymphocytic leukemia of mice."^^xsd:string) AnnotationAssertion( "MESH:D007940"^^xsd:string) AnnotationAssertion( "Lymphoma L5178"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005438"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemia L5178"^^xsd:string) SubClassOf( ) # Class: (Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia) AnnotationAssertion( "MIM:610706"^^xsd:string) AnnotationAssertion( "MESH:C565195"^^xsd:string) AnnotationAssertion( "Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia"^^xsd:string) AnnotationAssertion( "Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)"^^xsd:string) AnnotationAssertion( "Lamm syndrome"^^xsd:string) AnnotationAssertion( "deafness with Lamm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005439"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures) AnnotationAssertion( "MESH:C564607"^^xsd:string) AnnotationAssertion( "ICEGTC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005440"^^xsd:string) AnnotationAssertion(rdfs:label "Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures"^^xsd:string) SubClassOf( ) # Class: (Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects) AnnotationAssertion( "MIM:609545"^^xsd:string) AnnotationAssertion( "MESH:C563701"^^xsd:string) AnnotationAssertion( "Gershoni-Baruch Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005441"^^xsd:string) AnnotationAssertion(rdfs:label "Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Basel-Vanagaite-Smirin-Yosef syndrome) AnnotationAssertion( "An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:9001374"^^xsd:string) AnnotationAssertion( "MIM:616449"^^xsd:string) AnnotationAssertion( "BVSYS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005442"^^xsd:string) AnnotationAssertion(rdfs:label "Basel-Vanagaite-Smirin-Yosef syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Galloway-Mowat Syndrome 8) AnnotationAssertion(Annotation( "MIM:618349"^^xsd:string) "Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood. GAMOS8 is caused by homozygous mutation in the NUP133 gene on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18)."^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618349"^^xsd:string) AnnotationAssertion( "GAMOS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005443"^^xsd:string) AnnotationAssertion(rdfs:label "Galloway-Mowat Syndrome 8"^^xsd:string) SubClassOf( ) # Class: (Torsades de Pointes) AnnotationAssertion(Annotation( "MESH:D016171"^^xsd:string) "A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION."^^xsd:string) AnnotationAssertion( "MIM:613600"^^xsd:string) AnnotationAssertion( "EFO:0005307"^^xsd:string) AnnotationAssertion( "MESH:D016171"^^xsd:string) AnnotationAssertion( "Torsade de Pointes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005444"^^xsd:string) AnnotationAssertion(rdfs:label "Torsades de Pointes"^^xsd:string) SubClassOf( ) # Class: (Alopecia Areata 2) AnnotationAssertion( "MIM:610753"^^xsd:string) AnnotationAssertion( "MESH:C565186"^^xsd:string) AnnotationAssertion( "AA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005445"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Areata 2"^^xsd:string) SubClassOf( ) # Class: (Mandibular Neoplasms) AnnotationAssertion( "Tumors or cancer of the MANDIBLE."^^xsd:string) AnnotationAssertion( "MESH:D008339"^^xsd:string) AnnotationAssertion( "mandibular neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of mandible"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005446"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperfunctioning Thyroid Adenoma) AnnotationAssertion( "RDO:0011984"^^xsd:string) AnnotationAssertion( "MESH:C566386"^^xsd:string) AnnotationAssertion( "Thyroid Adenoma, Hyperfunctioning, Somatic"^^xsd:string) AnnotationAssertion( "Thyroid Carcinoma With Thyrotoxicosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005447"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperfunctioning Thyroid Adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Dyskeratosis Congenita 8) AnnotationAssertion(Annotation( "MIM:620133"^^xsd:string) "A disease characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the DCLRE1B gene on chromosome 1p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-29T07:56:14Z"^^xsd:string) AnnotationAssertion( "MIM:620133"^^xsd:string) AnnotationAssertion( "DKCB8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005448"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Dyskeratosis Congenita 8"^^xsd:string) SubClassOf( ) # Class: (Ehlers-Danlos Syndrome Type 7) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C125701"^^xsd:string) AnnotationAssertion( "RDO:9004306"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME, PROCOLLAGEN PROTEINASE DEFICIENT"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos Syndrome Type VII"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005449"^^xsd:string) AnnotationAssertion(rdfs:label "Ehlers-Danlos Syndrome Type 7"^^xsd:string) SubClassOf( ) # Class: (Nocturnal Paroxysmal Dystonia) AnnotationAssertion(Annotation( "MESH:D020183"^^xsd:string) "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)"^^xsd:string) AnnotationAssertion( "EFO:1001381"^^xsd:string) AnnotationAssertion( "MESH:D020183"^^xsd:string) AnnotationAssertion( "RDO:0007329"^^xsd:string) AnnotationAssertion( "Hypnogenic Paroxysmal Dystonia"^^xsd:string) AnnotationAssertion( "Hypnogenic Paroxysmal Dystonias"^^xsd:string) AnnotationAssertion( "Nocturnal Paroxysmal Dystonias"^^xsd:string) AnnotationAssertion( "Sleep Related Dystonia"^^xsd:string) AnnotationAssertion( "Sleep-Related Dystonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005450"^^xsd:string) AnnotationAssertion(rdfs:label "Nocturnal Paroxysmal Dystonia"^^xsd:string) SubClassOf( ) # Class: (Deafness, Autosomal Dominant, due to Mutation In Myo1a) AnnotationAssertion( "MESH:C567266"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005451"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Autosomal Dominant, due to Mutation In Myo1a"^^xsd:string) SubClassOf( ) # Class: (Ureteral Calculi) AnnotationAssertion(Annotation( "MESH:D014514"^^xsd:string) "Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic."^^xsd:string) AnnotationAssertion( "MESH:D014514"^^xsd:string) AnnotationAssertion( "Ureteral Calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005452"^^xsd:string) AnnotationAssertion(rdfs:label "Ureteral Calculi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Obesity and Hypopigmentation) AnnotationAssertion(Annotation( "MIM:620195"^^xsd:string) "A disease characterized by early-onset severe obesity and hypopigmentation of the skin. Caused by a heterozygous chromosomal rearrangement resulting in ubiquitous expression of the ASIP gene on chromosome 20q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-16T10:12:35Z"^^xsd:string) AnnotationAssertion( "MIM:620195"^^xsd:string) AnnotationAssertion( "OBHP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005453"^^xsd:string) AnnotationAssertion(rdfs:label "Obesity and Hypopigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Biemond Syndrome II) AnnotationAssertion( "MIM:210350"^^xsd:string) AnnotationAssertion( "MESH:C565902"^^xsd:string) AnnotationAssertion( "Biemond Syndrome Type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005454"^^xsd:string) AnnotationAssertion(rdfs:label "Biemond Syndrome II"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Salivary Duct Calculi) AnnotationAssertion(Annotation( "MESH:D012465"^^xsd:string) "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts."^^xsd:string) AnnotationAssertion( "MIM:181010"^^xsd:string) AnnotationAssertion( "MESH:D012465"^^xsd:string) AnnotationAssertion( "Parotid Duct Calculi"^^xsd:string) AnnotationAssertion( "Salivary Duct Calculus"^^xsd:string) AnnotationAssertion( "Salivary Duct Stone"^^xsd:string) AnnotationAssertion( "Salivary Duct Stones"^^xsd:string) AnnotationAssertion( "Sialolithiases, Ductal"^^xsd:string) AnnotationAssertion( "Sialolithiasis, Ductal"^^xsd:string) AnnotationAssertion( "Submandibular Duct Calculi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005455"^^xsd:string) AnnotationAssertion(rdfs:label "Salivary Duct Calculi"^^xsd:string) SubClassOf( ) # Class: (spindle cell neoplasm) AnnotationAssertion(Annotation( "NCI:C27263"^^xsd:string) "This is a benign or malignant neoplasm characterized by the presence of neoplastic spindle cells."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-17T12:30:54Z"^^xsd:string) AnnotationAssertion( "EFO:0000705"^^xsd:string) AnnotationAssertion( "NCI:C21613"^^xsd:string) AnnotationAssertion( "spindle cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005456"^^xsd:string) AnnotationAssertion(rdfs:label "spindle cell neoplasm"^^xsd:string) SubClassOf( ) # Class: (Specific Language Impairment 2) AnnotationAssertion( "MIM:606712"^^xsd:string) AnnotationAssertion( "SLI2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005457"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Language Impairment 2"^^xsd:string) SubClassOf( ) # Class: (Eccrine Syringofibroadenomatosis with Eyelid Abnormalities) AnnotationAssertion( "MESH:C566347"^^xsd:string) AnnotationAssertion( "RDO:0014726"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005458"^^xsd:string) AnnotationAssertion(rdfs:label "Eccrine Syringofibroadenomatosis with Eyelid Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dahlberg Borer Newcomer Syndrome) AnnotationAssertion( "MIM:247410"^^xsd:string) AnnotationAssertion( "MESH:C535769"^^xsd:string) AnnotationAssertion( "hypoparathyroidism-lymphedema syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005459"^^xsd:string) AnnotationAssertion(rdfs:label "Dahlberg Borer Newcomer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS) AnnotationAssertion(Annotation( "MIM:618760"^^xsd:string) "A disease that is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-17T10:25:41Z"^^xsd:string) AnnotationAssertion( "MIM:618760"^^xsd:string) AnnotationAssertion( "NEDHAHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005460"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ureaplasma Infections) AnnotationAssertion(Annotation( "MESH:D016869"^^xsd:string) "Infections with bacteria of the genus UREAPLASMA."^^xsd:string) AnnotationAssertion( "EFO:1001225"^^xsd:string) AnnotationAssertion( "MESH:D016869"^^xsd:string) AnnotationAssertion( "Ureaplasma Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005461"^^xsd:string) AnnotationAssertion(rdfs:label "Ureaplasma Infections"^^xsd:string) SubClassOf( ) # Class: (Familial Basilar Migraine) AnnotationAssertion( "RDO:0014868"^^xsd:string) AnnotationAssertion( "MESH:C566540"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005462"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Basilar Migraine"^^xsd:string) SubClassOf( ) # Class: (Occupational Diseases) AnnotationAssertion(Annotation( "MESH:D009784"^^xsd:string) "Diseases caused by factors involved in one's employment."^^xsd:string) AnnotationAssertion( "MESH:D009784"^^xsd:string) AnnotationAssertion( "Occupational Disease"^^xsd:string) AnnotationAssertion( "Occupational Illnesse"^^xsd:string) AnnotationAssertion( "Occupational Illnesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005463"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Occupational Diseases"^^xsd:string) SubClassOf( ) # Class: (Developmental Delay, Language Impairment, and Ocular Abnormalities) AnnotationAssertion(Annotation( "MIM:620141"^^xsd:string) "A disease characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Caused by heterozygous mutation in the ARPC4 gene on chromosome 3p25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-05T08:33:31Z"^^xsd:string) AnnotationAssertion( "MIM:620141"^^xsd:string) AnnotationAssertion( "DEVLO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005464"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Delay, Language Impairment, and Ocular Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Renal Ischemia) AnnotationAssertion( "A hypoperfusion of the blood through the kidney caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-08-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "kidney ischemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005465"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Language Development Disorders) AnnotationAssertion(Annotation( "MESH:D007805"^^xsd:string) "Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors."^^xsd:string) AnnotationAssertion( "MESH:D007805"^^xsd:string) AnnotationAssertion( "Central Auditory Processing Disorder"^^xsd:string) AnnotationAssertion( "Developmental Disorder, Speech or Language"^^xsd:string) AnnotationAssertion( "Developmental Language Disorder"^^xsd:string) AnnotationAssertion( "Language Delay"^^xsd:string) AnnotationAssertion( "Language Delays"^^xsd:string) AnnotationAssertion( "Language Development Disorder"^^xsd:string) AnnotationAssertion( "Semantic Pragmatic Disorder"^^xsd:string) AnnotationAssertion( "Semantic-Pragmatic Disorders"^^xsd:string) AnnotationAssertion( "Speech Delay"^^xsd:string) AnnotationAssertion( "developmental language disorders"^^xsd:string) AnnotationAssertion( "speech delays"^^xsd:string) AnnotationAssertion( "EXPRESSIVE LANGUAGE DELAY"^^xsd:string) AnnotationAssertion( "LANGUAGE RETARDATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005466"^^xsd:string) AnnotationAssertion(rdfs:label "Language Development Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Brittle Cornea Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-23T15:06:49Z"^^xsd:string) AnnotationAssertion( "MIM:PS229200"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005468"^^xsd:string) AnnotationAssertion(rdfs:label "Brittle Cornea Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Capillary Malformation-Arteriovenous Malformation) AnnotationAssertion( "GARD:11904"^^xsd:string) AnnotationAssertion( "MESH:C564254"^^xsd:string) AnnotationAssertion( "MIM:PS608354"^^xsd:string) AnnotationAssertion( "MONDO:0012016"^^xsd:string) AnnotationAssertion( "ORDO:137667"^^xsd:string) AnnotationAssertion( "CM-AVM"^^xsd:string) AnnotationAssertion( "CMAVM"^^xsd:string) AnnotationAssertion( "capillary malformation-arteriovenous malformation syndrome"^^xsd:string) AnnotationAssertion( "CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005469"^^xsd:string) AnnotationAssertion(rdfs:label "Capillary Malformation-Arteriovenous Malformation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 14q, Partial Deletions) AnnotationAssertion( "MESH:C538031"^^xsd:string) AnnotationAssertion( "RDO:0003965"^^xsd:string) AnnotationAssertion( "Deletion 14q11"^^xsd:string) AnnotationAssertion( "Deletion 14q31"^^xsd:string) AnnotationAssertion( "Monosomy 14q11"^^xsd:string) AnnotationAssertion( "Monosomy 14q31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005470"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14q, Partial Deletions"^^xsd:string) SubClassOf( ) # Class: (Thiemann Disease) AnnotationAssertion( "MIM:165700"^^xsd:string) AnnotationAssertion( "MESH:C537144"^^xsd:string) AnnotationAssertion( "Familial Osteoarthropathy of Fingers"^^xsd:string) AnnotationAssertion( "Thiemann epiphyseal disease"^^xsd:string) AnnotationAssertion( "Thiemann's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005471"^^xsd:string) AnnotationAssertion(rdfs:label "Thiemann Disease"^^xsd:string) SubClassOf( ) # Class: (hypopharyngeal squamous cell carcinoma) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-29T10:44:54Z"^^xsd:string) AnnotationAssertion( "EFO:1001960"^^xsd:string) AnnotationAssertion( "NCI:C4043"^^xsd:string) AnnotationAssertion( "epidermoid carcinoma of hypopharynx"^^xsd:string) AnnotationAssertion( "hypopharyngeal epidermoid carcinoma"^^xsd:string) AnnotationAssertion( "hypopharyngeal throat squamous cell cancer"^^xsd:string) AnnotationAssertion( "hypopharynx squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005472"^^xsd:string) AnnotationAssertion(rdfs:label "hypopharyngeal squamous cell carcinoma"^^xsd:string) SubClassOf( ) # Class: (Bacterial Eye Infections) AnnotationAssertion(Annotation( "MESH:D015818"^^xsd:string) "Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia."^^xsd:string) AnnotationAssertion( "RDO:0005262"^^xsd:string) AnnotationAssertion( "MESH:D015818"^^xsd:string) AnnotationAssertion( "Bacterial Eye Infection"^^xsd:string) AnnotationAssertion( "Bacterial Ocular Infection"^^xsd:string) AnnotationAssertion( "Bacterial Ocular Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005473"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Eye Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Sarcoma) AnnotationAssertion(Annotation( "MESH:D012513"^^xsd:string) "Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA."^^xsd:string) AnnotationAssertion( "MESH:D012513"^^xsd:string) AnnotationAssertion( "EHS Tumor"^^xsd:string) AnnotationAssertion( "Engelbreth-Holm-Swarm Sarcoma"^^xsd:string) AnnotationAssertion( "Experimental Sarcomas"^^xsd:string) AnnotationAssertion( "Jensen Sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005474"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hamanishi Ueba Tsuji Syndrome) AnnotationAssertion( "MESH:C535624"^^xsd:string) AnnotationAssertion( "Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005476"^^xsd:string) AnnotationAssertion(rdfs:label "Hamanishi Ueba Tsuji Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome) AnnotationAssertion( "An autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-29T09:40:20Z"^^xsd:string) AnnotationAssertion( "MIM:614979"^^xsd:string) AnnotationAssertion( "ALPK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ROSAH"^^xsd:string) AnnotationAssertion( "ROSAH SYNDROME"^^xsd:string) AnnotationAssertion( "splenomegaly, cytopenia, and vision loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005477"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fried Goldberg Mundel Syndrome) AnnotationAssertion( "MESH:C535640"^^xsd:string) AnnotationAssertion( "RDO:0000875"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005478"^^xsd:string) AnnotationAssertion(rdfs:label "Fried Goldberg Mundel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pallidopontonigral Degeneration) AnnotationAssertion( "MESH:C563003"^^xsd:string) AnnotationAssertion( "RDO:0012468"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005479"^^xsd:string) AnnotationAssertion(rdfs:label "Pallidopontonigral Degeneration"^^xsd:string) SubClassOf( ) # Class: (X-Linked Spermatogenic Failure 7) AnnotationAssertion(Annotation( "MIM:301106"^^xsd:string) "A male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Caused by hemizygous mutation in the CT55 gene on chromosome Xq26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-28T09:30:13Z"^^xsd:string) AnnotationAssertion( "MIM:301106"^^xsd:string) AnnotationAssertion( "SPGFX7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005480"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Spermatogenic Failure 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly and Chorioretinopathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-28T07:56:35Z"^^xsd:string) AnnotationAssertion( "MIM:PS251270"^^xsd:string) AnnotationAssertion( "MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005482"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly and Chorioretinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Van Der Woude Syndrome 1, Modifier of) AnnotationAssertion( "MIM:604547"^^xsd:string) AnnotationAssertion( "RDO:0008945"^^xsd:string) AnnotationAssertion( "VWSM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005484"^^xsd:string) AnnotationAssertion(rdfs:label "Van Der Woude Syndrome 1, Modifier of"^^xsd:string) SubClassOf( ) # Class: (Generalized Epilepsy with Febrile Seizures Plus, Type 3) AnnotationAssertion( "RDO:0014353"^^xsd:string) AnnotationAssertion( "GABRG2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C565811"^^xsd:string) AnnotationAssertion( "GEFS+, TYPE 3"^^xsd:string) AnnotationAssertion( "GEFSP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005485"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epilepsy with Febrile Seizures Plus, Type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 7, Trisomy Mosaic) AnnotationAssertion( "MESH:C537822"^^xsd:string) AnnotationAssertion( "RDO:0003726"^^xsd:string) AnnotationAssertion( "Trisomy 7 mosaicism"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005486"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Trisomy Mosaic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Candidiasis, Familial, 9) AnnotationAssertion( "MIM:616445"^^xsd:string) AnnotationAssertion( "RDO:9001382"^^xsd:string) AnnotationAssertion( "CANDF9"^^xsd:string) AnnotationAssertion( "IL17RC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005487"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 9"^^xsd:string) SubClassOf( ) # Class: (Renal Tubular Dysgenesis with Choanal Atresia and Athelia) AnnotationAssertion( "MESH:C567491"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005488"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Tubular Dysgenesis with Choanal Atresia and Athelia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Seizures, Cortical Blindness, and Microcephaly Syndrome) AnnotationAssertion( "A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616632"^^xsd:string) AnnotationAssertion( "SCBMS"^^xsd:string) AnnotationAssertion( "seizures, cortical blindness, microcephaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005489"^^xsd:string) AnnotationAssertion(rdfs:label "Seizures, Cortical Blindness, and Microcephaly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 4, Trisomy 4q21) AnnotationAssertion( "MESH:C537645"^^xsd:string) AnnotationAssertion( "RDO:0003521"^^xsd:string) AnnotationAssertion( "Duplication 4q21"^^xsd:string) AnnotationAssertion( "Trisomy 4q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005490"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Trisomy 4q21"^^xsd:string) SubClassOf( ) # Class: (Ear Deformities, Acquired) AnnotationAssertion(Annotation( "MESH:D004426"^^xsd:string) "Distortion or disfigurement of the ear caused by disease or injury after birth."^^xsd:string) AnnotationAssertion( "MESH:D004426"^^xsd:string) AnnotationAssertion( "RDO:0003508"^^xsd:string) AnnotationAssertion( "Acquired Ear Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005491"^^xsd:string) AnnotationAssertion(rdfs:label "Ear Deformities, Acquired"^^xsd:string) SubClassOf( ) # Class: (Marfan Lipodystrophy Syndrome) AnnotationAssertion( "A syndrome characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-05-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000356"^^xsd:string) AnnotationAssertion( "MIM:616914"^^xsd:string) AnnotationAssertion( "MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME"^^xsd:string) AnnotationAssertion( "MARFANOID-PROGEROID SYNDROME"^^xsd:string) AnnotationAssertion( "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME"^^xsd:string) AnnotationAssertion( "MFLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005492"^^xsd:string) AnnotationAssertion(rdfs:label "Marfan Lipodystrophy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anaplastic Meningioma) AnnotationAssertion(Annotation( "NCI:C4051"^^xsd:string) "This is a rare, fast-growing tumor that forms in one of the inner layers of the meninges (thin layers of tissue that cover and protect the brain and spinal cord). Malignant meningioma often spreads to other areas of the body."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-08T14:29:09Z"^^xsd:string) AnnotationAssertion( "EFO:1000082"^^xsd:string) AnnotationAssertion( "NCI:C124250"^^xsd:string) AnnotationAssertion( "Anaplastic (Malignant) Meningioma"^^xsd:string) AnnotationAssertion( "Malignant Meningioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005493"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplastic Meningioma"^^xsd:string) SubClassOf( ) # Class: (X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features) AnnotationAssertion(Annotation( "MIM:301091"^^xsd:string) "A neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Caused by hemizygous or heterozygous mutation in the GABRA3 gene on chromosome Xq28."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-28T08:17:10Z"^^xsd:string) AnnotationAssertion( "MIM:301091"^^xsd:string) AnnotationAssertion( "EPILX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005494"^^xsd:string) AnnotationAssertion(rdfs:label "X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Raindrop Hypopigmentation) AnnotationAssertion( "MIM:179500"^^xsd:string) AnnotationAssertion( "MESH:C566724"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005495"^^xsd:string) AnnotationAssertion(rdfs:label "Raindrop Hypopigmentation"^^xsd:string) SubClassOf( ) # Class: (Diaphragmatic Hernia 1) AnnotationAssertion( "MESH:C564188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005496"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia 1"^^xsd:string) SubClassOf( ) # Class: (Lesch-Nyhan Syndrome, Neurologic Variant) AnnotationAssertion( "MESH:C564535"^^xsd:string) AnnotationAssertion( "HPRT Deficiency, Neurologic Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HPRT Montreal"^^xsd:string) AnnotationAssertion( "DOID:9005497"^^xsd:string) AnnotationAssertion(rdfs:label "Lesch-Nyhan Syndrome, Neurologic Variant"^^xsd:string) SubClassOf( ) # Class: (Near Drowning) AnnotationAssertion(Annotation( "MESH:D015701"^^xsd:string) "Non-fatal immersion or submersion in water. The subject is resuscitable."^^xsd:string) AnnotationAssertion( "MESH:D015701"^^xsd:string) AnnotationAssertion( "Near Drownings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005498"^^xsd:string) AnnotationAssertion(rdfs:label "Near Drowning"^^xsd:string) SubClassOf( ) # Class: (Chromosome 16p13.3 Deletion Syndrome) AnnotationAssertion( "MIM:610543"^^xsd:string) AnnotationAssertion( "RDO:0014786"^^xsd:string) AnnotationAssertion( "MESH:C566433"^^xsd:string) AnnotationAssertion( "RSTS, Severe"^^xsd:string) AnnotationAssertion( "Rubinstein-Taybi Syndrome, Severe"^^xsd:string) AnnotationAssertion( "proximal chromosome 16p13.3 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005499"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 16p13.3 Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal Cortical Gyration) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005501"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Cortical Gyration"^^xsd:string) SubClassOf( ) # Class: (Lattice Degeneration of Retina Leading to Retinal Detachment) AnnotationAssertion( "MIM:150500"^^xsd:string) AnnotationAssertion( "MESH:C563633"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005502"^^xsd:string) AnnotationAssertion(rdfs:label "Lattice Degeneration of Retina Leading to Retinal Detachment"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Disseminated Sclerosis with Narcolepsy) AnnotationAssertion( "MIM:223300"^^xsd:string) AnnotationAssertion( "MESH:C565621"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005503"^^xsd:string) AnnotationAssertion(rdfs:label "Disseminated Sclerosis with Narcolepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dysprothrombinemia) AnnotationAssertion( "MESH:C562724"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005504"^^xsd:string) AnnotationAssertion(rdfs:label "Dysprothrombinemia"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Erythema Nodosum) AnnotationAssertion( "MESH:C535511"^^xsd:string) AnnotationAssertion( "Erythema nodosum of unknown etiology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005505"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Erythema Nodosum"^^xsd:string) SubClassOf( ) # Class: (46, XY Female) AnnotationAssertion( "MESH:C536769"^^xsd:string) AnnotationAssertion( "XY Female"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005506"^^xsd:string) AnnotationAssertion(rdfs:label "46, XY Female"^^xsd:string) SubClassOf( ) # Class: (Amyopathic Dermatomyositis) AnnotationAssertion( "EFO:0008532"^^xsd:string) AnnotationAssertion( "MESH:C538250"^^xsd:string) AnnotationAssertion( "clinically amyopathic dermatomyositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005507"^^xsd:string) AnnotationAssertion(rdfs:label "Amyopathic Dermatomyositis"^^xsd:string) SubClassOf( ) # Class: (Cephalin Lipidosis) AnnotationAssertion( "MIM:212800"^^xsd:string) AnnotationAssertion( "MESH:C565872"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005508"^^xsd:string) AnnotationAssertion(rdfs:label "Cephalin Lipidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Renal Hypodysplasia/Aplasia 2) AnnotationAssertion( "MIM:615721"^^xsd:string) AnnotationAssertion( "MONDO:0014319"^^xsd:string) AnnotationAssertion( "RHDA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005509"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypodysplasia/Aplasia 2"^^xsd:string) SubClassOf( ) # Class: (Hereditary Leiomyomatosis and Renal Cell Cancer) AnnotationAssertion( "MIM:150800"^^xsd:string) AnnotationAssertion( "FH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0000766"^^xsd:string) AnnotationAssertion( "MESH:C535516"^^xsd:string) AnnotationAssertion( "MONDO:0007888"^^xsd:string) AnnotationAssertion( "ORDO:523"^^xsd:string) AnnotationAssertion( "Cutaneous leiomyomata with uterine leiomyomata"^^xsd:string) AnnotationAssertion( "HLRCC"^^xsd:string) AnnotationAssertion( "LRCC"^^xsd:string) AnnotationAssertion( "Leiomyoma, hereditary multiple, of skin"^^xsd:string) AnnotationAssertion( "MCL"^^xsd:string) AnnotationAssertion( "MCUL1"^^xsd:string) AnnotationAssertion( "MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA"^^xsd:string) AnnotationAssertion( "Multiple cutaneous and uterine leiomyomata 1"^^xsd:string) AnnotationAssertion( "Multiple cutaneous and uterine leiomyomatosis"^^xsd:string) AnnotationAssertion( "Reed's syndrome"^^xsd:string) AnnotationAssertion( "multiple cutaneous leiomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005510"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Leiomyomatosis and Renal Cell Cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 2, Monosomy 2pter p24) AnnotationAssertion( "MESH:C538314"^^xsd:string) AnnotationAssertion( "RDO:0004276"^^xsd:string) AnnotationAssertion( "Deletion 2pter p24"^^xsd:string) AnnotationAssertion( "Monosomy 2pter p24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005511"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Monosomy 2pter p24"^^xsd:string) SubClassOf( ) # Class: (Paragangliomas 6) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T14:08:57Z"^^xsd:string) AnnotationAssertion( "MIM:618464"^^xsd:string) AnnotationAssertion( "PGL6"^^xsd:string) AnnotationAssertion( "PPGL6"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005512"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 6"^^xsd:string) SubClassOf( ) # Class: (Phacomatosis Pigmentokeratotica) AnnotationAssertion( "MESH:C537893"^^xsd:string) AnnotationAssertion( "RDO:0003805"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005513"^^xsd:string) AnnotationAssertion(rdfs:label "Phacomatosis Pigmentokeratotica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diffuse Lewy Body Disease with Gaze Palsy) AnnotationAssertion( "MESH:C565077"^^xsd:string) AnnotationAssertion( "RDO:0013815"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005514"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Lewy Body Disease with Gaze Palsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Therapy-related Acute Myeloid Leukemia) AnnotationAssertion( "A neoplastic disorder caused by cytotoxic cancer therapy (chemotherapy, immunotherapy, or radiotherapy) and arising from a multipotential hematopoietic stem cell."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C8252"^^xsd:string) AnnotationAssertion( "ORDO:86846"^^xsd:string) AnnotationAssertion( "t-AML"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005515"^^xsd:string) AnnotationAssertion(rdfs:label "Therapy-related Acute Myeloid Leukemia"^^xsd:string) SubClassOf( ) # Class: (Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "IMNEPD"^^xsd:string) AnnotationAssertion( "MIM:616263"^^xsd:string) AnnotationAssertion( "IMNEPD1"^^xsd:string) AnnotationAssertion( "infantile-onset multisystem neurologic, endocrine, and pancreatic disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005516"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichorhinophalangeal Syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS190350"^^xsd:string) AnnotationAssertion( "trichorhinophalangeal syndromes"^^xsd:string) AnnotationAssertion( "TRICHORHINOPHALANGEAL SYNDROME TYPE I OR III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005517"^^xsd:string) AnnotationAssertion(rdfs:label "Trichorhinophalangeal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss) AnnotationAssertion( "MESH:C566373"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005518"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperlipoproteinemia Type II) AnnotationAssertion(Annotation( "MESH:D006938"^^xsd:string) "A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins)."^^xsd:string) AnnotationAssertion( "MIM:144010"^^xsd:string) AnnotationAssertion( "APOB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "APOB-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:D006938"^^xsd:string) AnnotationAssertion( "NCI:C123416"^^xsd:string) AnnotationAssertion( "NCI:C176014"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Hypercholesterolemia"^^xsd:string) AnnotationAssertion( "Essential Hypercholesterolemia"^^xsd:string) AnnotationAssertion( "Essential Hypercholesterolemias"^^xsd:string) AnnotationAssertion( "Familial Combined Hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "Familial Combined Hyperlipoproteinemias"^^xsd:string) AnnotationAssertion( "HYPERCHOLESTEROLEMIA, FAMILIAL, 2"^^xsd:string) AnnotationAssertion( "Hyper Low Density Lipoproteinemia"^^xsd:string) AnnotationAssertion( "Hyper beta Lipoproteinemia"^^xsd:string) AnnotationAssertion( "Hyper-Low Density Lipoproteinemias"^^xsd:string) AnnotationAssertion( "Hyper-beta-Lipoproteinemias"^^xsd:string) AnnotationAssertion( "Hyperbetalipoproteinemia"^^xsd:string) AnnotationAssertion( "Hyperbetalipoproteinemias"^^xsd:string) AnnotationAssertion( "Hypercholesterolemia, Autosomal Dominant, Type B"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type 2"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type IIa"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia Type IIb"^^xsd:string) AnnotationAssertion( "LDL Receptor Disorder"^^xsd:string) AnnotationAssertion( "LDL Receptor Disorders"^^xsd:string) AnnotationAssertion( "autosomal dominant hypercholesterolemias"^^xsd:string) AnnotationAssertion( "type II Hyperlipoproteinemias"^^xsd:string) AnnotationAssertion( "type IIa hyperlipoproteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005519"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipoproteinemia Type II"^^xsd:string) SubClassOf( ) # Class: (Genitopatellar Syndrome) AnnotationAssertion( "MIM:606170"^^xsd:string) AnnotationAssertion( "AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "KAT6B-related spectrum disorder"^^xsd:string) AnnotationAssertion( "KAT6B-related spectrum disorders"^^xsd:string) AnnotationAssertion( "MESH:C565255"^^xsd:string) AnnotationAssertion( "Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation"^^xsd:string) AnnotationAssertion( "GTPTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005520"^^xsd:string) AnnotationAssertion(rdfs:label "Genitopatellar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Xq28 Duplication Syndrome) AnnotationAssertion( "MIM:300815"^^xsd:string) AnnotationAssertion( "MESH:C567580"^^xsd:string) AnnotationAssertion( "Gdi1 Duplication Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005521"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq28 Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant) AnnotationAssertion( "MIM:609222"^^xsd:string) AnnotationAssertion( "MESH:C567185"^^xsd:string) AnnotationAssertion( "ADDWOC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005522"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Majeed Syndrome) AnnotationAssertion( "GARD:10088"^^xsd:string) AnnotationAssertion( "MESH:C537839"^^xsd:string) AnnotationAssertion( "MIM:609628"^^xsd:string) AnnotationAssertion( "MONDO:0012316"^^xsd:string) AnnotationAssertion( "ORDO:77297"^^xsd:string) AnnotationAssertion( "CRMO1"^^xsd:string) AnnotationAssertion( "Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis"^^xsd:string) AnnotationAssertion( "Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis"^^xsd:string) AnnotationAssertion( "Chronic recurrent multifocal osteomyelitis, congenital"^^xsd:string) AnnotationAssertion( "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis"^^xsd:string) AnnotationAssertion( "Dyserythropoietic anemia, and neutrophilic dermatosis"^^xsd:string) AnnotationAssertion( "MJDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005523"^^xsd:string) AnnotationAssertion(rdfs:label "Majeed Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (X-Linked Thrombocytopenia, Intermittent) AnnotationAssertion( "RDO:0013146"^^xsd:string) AnnotationAssertion( "MESH:C564053"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005525"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Thrombocytopenia, Intermittent"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Edema of Mountaineers) AnnotationAssertion( "MIM:178400"^^xsd:string) AnnotationAssertion( "EFO:1002002"^^xsd:string) AnnotationAssertion( "MESH:C535833"^^xsd:string) AnnotationAssertion( "HAPE"^^xsd:string) AnnotationAssertion( "High altitude pulmonary hypertension"^^xsd:string) AnnotationAssertion( "high altitude pulmonary edema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005526"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Edema of Mountaineers"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (No-Reflow Phenomenon) AnnotationAssertion(Annotation( "MESH:D054318"^^xsd:string) "Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery."^^xsd:string) AnnotationAssertion( "MESH:D054318"^^xsd:string) AnnotationAssertion( "RDO:0007668"^^xsd:string) AnnotationAssertion( "Slow Flow Phenomenon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005527"^^xsd:string) AnnotationAssertion(rdfs:label "No-Reflow Phenomenon"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Structural Heart Defects and Renal Anomalies Syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617478"^^xsd:string) AnnotationAssertion( "SHDRA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TYPE I TRUNCUS ARTERIOSUS"^^xsd:string) AnnotationAssertion( "DOID:9005528"^^xsd:string) AnnotationAssertion(rdfs:label "Structural Heart Defects and Renal Anomalies Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Benign Proteinuria) AnnotationAssertion(Annotation( "MIM:618884"^^xsd:string) "An autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-13T13:04:05Z"^^xsd:string) AnnotationAssertion( "MIM:618884"^^xsd:string) AnnotationAssertion( "PROCHOB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005529"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Benign Proteinuria"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis 5) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615529"^^xsd:string) AnnotationAssertion( "RDO:9001110"^^xsd:string) AnnotationAssertion( "CRS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "susceptibility to craniosynostosis-5"^^xsd:string) AnnotationAssertion( "DOID:9005530"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis 5"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIv) AnnotationAssertion( "An autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms. Caused by homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-26T11:35:17Z"^^xsd:string) AnnotationAssertion( "MIM:619493"^^xsd:string) AnnotationAssertion( "CDG2V"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type 2V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005531"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIv"^^xsd:string) SubClassOf( ) # Class: (Muscle Weakness) AnnotationAssertion(Annotation( "MESH:D018908"^^xsd:string) "A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)"^^xsd:string) AnnotationAssertion( "MESH:D018908"^^xsd:string) AnnotationAssertion( "Muscle Weaknesses"^^xsd:string) AnnotationAssertion( "Muscular Weakness"^^xsd:string) AnnotationAssertion( "Muscular Weaknesses"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MUSCLE WEAKNESS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005532"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Weakness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (RETINITIS PIGMENTOSA 97) AnnotationAssertion(Annotation( "MIM:620422"^^xsd:string) "This disease is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-07-21T10:40:55Z"^^xsd:string) AnnotationAssertion( "MIM:620422"^^xsd:string) AnnotationAssertion( "RP97"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005533"^^xsd:string) AnnotationAssertion(rdfs:label "RETINITIS PIGMENTOSA 97"^^xsd:string) SubClassOf( ) # Class: (Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism) AnnotationAssertion( "MIM:254000"^^xsd:string) AnnotationAssertion( "MESH:C537385"^^xsd:string) AnnotationAssertion( "Familial congenital muscular dystrophy with gonadal dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005534"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spontaneous Remission) AnnotationAssertion(Annotation( "MESH:D012075"^^xsd:string) "A spontaneous diminution or abatement of a disease over time, without formal treatment."^^xsd:string) AnnotationAssertion( "MESH:D012075"^^xsd:string) AnnotationAssertion( "Spontaneous Remissions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005535"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Remission"^^xsd:string) SubClassOf( ) # Class: (Blepharoptosis, Myopia, and Ectopia Lentis) AnnotationAssertion( "MIM:110150"^^xsd:string) AnnotationAssertion( "MESH:C536236"^^xsd:string) AnnotationAssertion( "Dominantly inherited blepharoptosis, high myopia, and ectopia lentis"^^xsd:string) AnnotationAssertion( "blepharoptosis, myopia, ectopia lentis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005536"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharoptosis, Myopia, and Ectopia Lentis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tetrasomy X) AnnotationAssertion( "MESH:C536502"^^xsd:string) AnnotationAssertion( "48 XXXX"^^xsd:string) AnnotationAssertion( "48 XXXX syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005538"^^xsd:string) AnnotationAssertion(rdfs:label "Tetrasomy X"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Prostate Cancer) AnnotationAssertion( "MESH:C537243"^^xsd:string) AnnotationAssertion( "hereditary prostate cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "prostate cancer susceptibility"^^xsd:string) AnnotationAssertion( "DOID:9005539"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Prostate Cancer"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mental Retardation, Autosomal Recessive 53) AnnotationAssertion(Annotation( "MIM:616917"^^xsd:string) "A neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients."^^xsd:string) AnnotationAssertion( "MIM:616917"^^xsd:string) AnnotationAssertion( "GPIBD13"^^xsd:string) AnnotationAssertion( "MRT53"^^xsd:string) AnnotationAssertion( "NEDHSCA"^^xsd:string) AnnotationAssertion( "PIGG-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "glycosylphosphatidylinositol biosynthesis defect 13"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal recessive 53"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EMM-NULL PHENOTYPE"^^xsd:string) AnnotationAssertion( "DOID:9005541"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Autosomal Recessive 53"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ciliary Discoordination due to Random Ciliary Orientation) AnnotationAssertion( "MIM:215518"^^xsd:string) AnnotationAssertion( "MESH:C562757"^^xsd:string) AnnotationAssertion( "Rutland ciliary disorientation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005542"^^xsd:string) AnnotationAssertion(rdfs:label "Ciliary Discoordination due to Random Ciliary Orientation"^^xsd:string) SubClassOf( ) # Class: (Tel Hashomer Camptodactyly Syndrome) AnnotationAssertion( "MIM:211960"^^xsd:string) AnnotationAssertion( "MESH:C536953"^^xsd:string) AnnotationAssertion( "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005543"^^xsd:string) AnnotationAssertion(rdfs:label "Tel Hashomer Camptodactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dopaminergic neuroblastoma) AnnotationAssertion(Annotation( "DOID:769"^^xsd:string) Annotation( "EFO:0006391"^^xsd:string) "This tumor is derived from immature nerve cells and associated with increased dopamine excretion."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-20T13:56:22Z"^^xsd:string) AnnotationAssertion( "EFO:0006391"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005544"^^xsd:string) AnnotationAssertion(rdfs:label "dopaminergic neuroblastoma"^^xsd:string) SubClassOf( ) # Class: (Reginato Schiapachasse Syndrome) AnnotationAssertion( "MESH:C535519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005545"^^xsd:string) AnnotationAssertion(rdfs:label "Reginato Schiapachasse Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wellesley Carmen French Syndrome) AnnotationAssertion( "MIM:115645"^^xsd:string) AnnotationAssertion( "MESH:C536691"^^xsd:string) AnnotationAssertion( "Cataract, Aberrant Oral Frenula, And Growth Retardation"^^xsd:string) AnnotationAssertion( "Cataracts, aberrant oral frenula, and growth retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005546"^^xsd:string) AnnotationAssertion(rdfs:label "Wellesley Carmen French Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myoclonic Epilepsy of Lafora 1) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:19:57Z"^^xsd:string) AnnotationAssertion( "MIM:254780"^^xsd:string) AnnotationAssertion( "EPM2A"^^xsd:string) AnnotationAssertion( "Lafora disease 1"^^xsd:string) AnnotationAssertion( "MELF1"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 2A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005547"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsy of Lafora 1"^^xsd:string) SubClassOf( ) # Class: (Unknown Primary Neoplasms) AnnotationAssertion(Annotation( "MESH:D009382"^^xsd:string) "Metastases in which the tissue of origin is unknown."^^xsd:string) AnnotationAssertion( "MESH:D009382"^^xsd:string) AnnotationAssertion( "Occult Primary Neoplasm"^^xsd:string) AnnotationAssertion( "Unknown Primary Neoplasm"^^xsd:string) AnnotationAssertion( "Unknown Primary Neoplasm Metastasis"^^xsd:string) AnnotationAssertion( "Unknown Primary Tumor"^^xsd:string) AnnotationAssertion( "occult primary neoplasms"^^xsd:string) AnnotationAssertion( "unknown primary tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005548"^^xsd:string) AnnotationAssertion(rdfs:label "Unknown Primary Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Epithelioid Leiomyoma) AnnotationAssertion(Annotation( "MESH:D018230"^^xsd:string) "A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)"^^xsd:string) AnnotationAssertion( "RDO:0007126"^^xsd:string) AnnotationAssertion( "EFO:1001356"^^xsd:string) AnnotationAssertion( "MESH:D018230"^^xsd:string) AnnotationAssertion( "Epithelioid Leiomyomas"^^xsd:string) AnnotationAssertion( "Leiomyoblastoma"^^xsd:string) AnnotationAssertion( "Leiomyoblastomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005549"^^xsd:string) AnnotationAssertion(rdfs:label "Epithelioid Leiomyoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cardiocranial Syndrome) AnnotationAssertion( "MIM:218450"^^xsd:string) AnnotationAssertion( "MESH:C535578"^^xsd:string) AnnotationAssertion( "Pfeiffer Singer Zschiesche syndrome"^^xsd:string) AnnotationAssertion( "Pfeiffer cardiocranial syndrome"^^xsd:string) AnnotationAssertion( "Pfeiffer syndrome 2"^^xsd:string) AnnotationAssertion( "Pfeiffer-type cardiocranial syndrome"^^xsd:string) AnnotationAssertion( "sagittal craniostenosis with congenital heart disease, mental deficiency, and mandibular ankylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005551"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiocranial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kallmann Syndrome 2 with Cleft Lip or Palate) AnnotationAssertion( "MESH:C563651"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005552"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann Syndrome 2 with Cleft Lip or Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (X Chromosome, Monosomy Xq28) AnnotationAssertion( "MESH:C536755"^^xsd:string) AnnotationAssertion( "RDO:0002435"^^xsd:string) AnnotationAssertion( "Deletion Xq28"^^xsd:string) AnnotationAssertion( "Monosomy Xq28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005554"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Monosomy Xq28"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aortic Aneurysm, Familial Abdominal 3) AnnotationAssertion( "MIM:611891"^^xsd:string) AnnotationAssertion( "RDO:0009571"^^xsd:string) AnnotationAssertion( "MESH:C567501"^^xsd:string) AnnotationAssertion( "RDO:0015561"^^xsd:string) AnnotationAssertion( "Aaa3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005555"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Aneurysm, Familial Abdominal 3"^^xsd:string) SubClassOf( ) # Class: (C1q Deficiency 1) AnnotationAssertion( "A C1q deficiency caused by homozygous mutation in the C1QA gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T08:48:27Z"^^xsd:string) AnnotationAssertion( "MIM:613652"^^xsd:string) AnnotationAssertion( "C1QD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005556"^^xsd:string) AnnotationAssertion(rdfs:label "C1q Deficiency 1"^^xsd:string) SubClassOf( ) # Class: (Gamma-A-Globulin, Defect in Assembly of) AnnotationAssertion( "MIM:137050"^^xsd:string) AnnotationAssertion( "MESH:C564991"^^xsd:string) AnnotationAssertion( "IgA, Defect in Assembly of"^^xsd:string) AnnotationAssertion( "Immunoglobulin A, Defect in Assembly of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005558"^^xsd:string) AnnotationAssertion(rdfs:label "Gamma-A-Globulin, Defect in Assembly of"^^xsd:string) SubClassOf( ) # Class: (Cystic Dilatation of Renal Collecting Tubes) AnnotationAssertion( "MESH:C531743"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005559"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Dilatation of Renal Collecting Tubes"^^xsd:string) SubClassOf( ) # Class: (Congenital Hip Dislocation) AnnotationAssertion(Annotation( "MESH:D006618"^^xsd:string) "Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males."^^xsd:string) AnnotationAssertion( "EFO:1000648"^^xsd:string) AnnotationAssertion( "MESH:D006618"^^xsd:string) AnnotationAssertion( "CDH"^^xsd:string) AnnotationAssertion( "congenital dislocation of hip"^^xsd:string) AnnotationAssertion( "congenital dysplasia of the hip"^^xsd:string) AnnotationAssertion( "congenital hip dislocations"^^xsd:string) AnnotationAssertion( "congenital hip displacement"^^xsd:string) AnnotationAssertion( "congenital hip displacements"^^xsd:string) AnnotationAssertion( "congenital hip dysplasia"^^xsd:string) AnnotationAssertion( "congenital hip dysplasia, nonsyndromic"^^xsd:string) AnnotationAssertion( "congenital hip dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005560"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hip Dislocation"^^xsd:string) SubClassOf( ) # Class: (Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence) AnnotationAssertion( "MIM:217980"^^xsd:string) AnnotationAssertion( "RDO:0012516"^^xsd:string) AnnotationAssertion( "MESH:C563127"^^xsd:string) AnnotationAssertion( "Toriello-Carey Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005561"^^xsd:string) AnnotationAssertion(rdfs:label "Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AIDS-Related Kaposi Sarcoma) AnnotationAssertion( "RDO:0009974"^^xsd:string) AnnotationAssertion( "HIV-associated cancer"^^xsd:string) AnnotationAssertion( "EFO:0009553"^^xsd:string) AnnotationAssertion( "MESH:C554498"^^xsd:string) AnnotationAssertion( "NCI:C3992"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005562"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS-Related Kaposi Sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glomerulopathy with Giant Fibrillar Deposits) AnnotationAssertion( "MIM:137950"^^xsd:string) AnnotationAssertion( "MIM:601894"^^xsd:string) AnnotationAssertion( "FN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536826"^^xsd:string) AnnotationAssertion( "MESH:C562900"^^xsd:string) AnnotationAssertion( "NCI:C187984"^^xsd:string) AnnotationAssertion( "Fibronectin glomerulopathy"^^xsd:string) AnnotationAssertion( "GFND1"^^xsd:string) AnnotationAssertion( "GFND2"^^xsd:string) AnnotationAssertion( "GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1"^^xsd:string) AnnotationAssertion( "Glomerular nephritis, familial, with fibronectin deposits"^^xsd:string) AnnotationAssertion( "Glomerulopathy With Fibronectin Deposits 2"^^xsd:string) AnnotationAssertion( "LOBULAR GLOMERULOPATHY, FAMILIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005563"^^xsd:string) AnnotationAssertion(rdfs:label "Glomerulopathy with Giant Fibrillar Deposits"^^xsd:string) SubClassOf( ) # Class: (Hepatoblastoma Caused By Somatic Mutation) AnnotationAssertion( "MESH:C567299"^^xsd:string) AnnotationAssertion( "Somatic Hepatoblastoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005564"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatoblastoma Caused By Somatic Mutation"^^xsd:string) SubClassOf( ) # Class: (Preconception Injuries) AnnotationAssertion(Annotation( "MESH:D047489"^^xsd:string) "Damages to reproductive health prior to conception (FERTILIZATION), a legal term for torts liability concerning environmental safety issues. Preconception injuries may involve either the male or the female, such as chromosomal mutations in the OVA or the SPERMATOZOA."^^xsd:string) AnnotationAssertion( "MESH:D047489"^^xsd:string) AnnotationAssertion( "RDO:0007543"^^xsd:string) AnnotationAssertion( "Preconception Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005565"^^xsd:string) AnnotationAssertion(rdfs:label "Preconception Injuries"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:620194"^^xsd:string) "This disease is an autosomal recessive disorder characterized by poor growth, large ears, and dysmorphic facies as well as hypotonia and global developmental delay with impaired intellectual development."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-04T10:13:52Z"^^xsd:string) AnnotationAssertion( "MIM:620194"^^xsd:string) AnnotationAssertion( "NEDGEF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005566"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Paradoxical Embolism) AnnotationAssertion(Annotation( "MESH:D019320"^^xsd:string) "Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE."^^xsd:string) AnnotationAssertion( "EFO:1001308"^^xsd:string) AnnotationAssertion( "MESH:D019320"^^xsd:string) AnnotationAssertion( "Crossed Embolism"^^xsd:string) AnnotationAssertion( "Crossed Embolisms"^^xsd:string) AnnotationAssertion( "Paradoxical Embolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005568"^^xsd:string) AnnotationAssertion(rdfs:label "Paradoxical Embolism"^^xsd:string) SubClassOf( ) # Class: (Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation) AnnotationAssertion( "MIM:209770"^^xsd:string) AnnotationAssertion( "MESH:C565923"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005569"^^xsd:string) AnnotationAssertion(rdfs:label "Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Marshall/Stickler Syndrome) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005570"^^xsd:string) AnnotationAssertion(rdfs:label "Marshall/Stickler Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary pulmonary hypertension 6) AnnotationAssertion(Annotation( "MIM:620777"^^xsd:string) "This disease is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-31T15:55:40Z"^^xsd:string) AnnotationAssertion( "MIM:620777"^^xsd:string) AnnotationAssertion( "PPH6"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, 6"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005571"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 6"^^xsd:string) SubClassOf( ) # Class: (Brachymorphism-Onychodysplasia-Dysphalangism Syndrome) AnnotationAssertion( "MIM:113477"^^xsd:string) AnnotationAssertion( "MESH:C536242"^^xsd:string) AnnotationAssertion( "BOD Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005572"^^xsd:string) AnnotationAssertion(rdfs:label "Brachymorphism-Onychodysplasia-Dysphalangism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 3) AnnotationAssertion( "MIM:608656"^^xsd:string) AnnotationAssertion( "MESH:C563883"^^xsd:string) AnnotationAssertion( "HPC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005573"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bovine Hemorrhagic Syndrome) AnnotationAssertion(Annotation( "MESH:D030243"^^xsd:string) "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (DIARRHEA VIRUS 2, BOVINE VIRAL). Outbreaks are characterized by high morbidity and high mortality."^^xsd:string) AnnotationAssertion( "MESH:D030243"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005575"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Hemorrhagic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acquired Amegakaryocytic Thrombocytopenia) AnnotationAssertion( "MESH:C538172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005576"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Amegakaryocytic Thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 91) AnnotationAssertion(Annotation( "MIM:620838"^^xsd:string) "This disease is characterized by male infertility due to teratozoospermia. Patient sperm show defects of the head, including a misshapen rounded head and detachment of the acrosome, and the sperm fail to attach to the zona pellucida of the egg."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-17T13:00:40Z"^^xsd:string) AnnotationAssertion( "MIM:620838"^^xsd:string) AnnotationAssertion( "SPGF91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005577"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 91"^^xsd:string) SubClassOf( ) # Class: (Hearing Loss, Unilateral Sensorineural) AnnotationAssertion( "Partial or complete hearing loss in one ear resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM."^^xsd:string) AnnotationAssertion( "RDO:9000068"^^xsd:string) AnnotationAssertion( "USNHL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005578"^^xsd:string) AnnotationAssertion(rdfs:label "Hearing Loss, Unilateral Sensorineural"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 105) AnnotationAssertion(Annotation( "MIM:619924"^^xsd:string) "An autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the the PTPRC gene on chromosome 1q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-05T12:23:59Z"^^xsd:string) AnnotationAssertion( "MIM:619924"^^xsd:string) AnnotationAssertion( "IMD105"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005579"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 105"^^xsd:string) SubClassOf( ) # Class: (Moyamoya Disease 1) AnnotationAssertion( "MIM:252350"^^xsd:string) AnnotationAssertion( "MESH:C536991"^^xsd:string) AnnotationAssertion( "MYMY1"^^xsd:string) AnnotationAssertion( "spontaneous occlusion of the circle of Willis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005580"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 1"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 18) AnnotationAssertion( "DFNB18"^^xsd:string) AnnotationAssertion( "Deafness, Autosomal Recessive 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005581"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 18"^^xsd:string) SubClassOf( ) # Class: (Adrenal Cortex Neoplasms) AnnotationAssertion(Annotation( "MESH:D000306"^^xsd:string) "Tumors or cancers of the ADRENAL CORTEX."^^xsd:string) AnnotationAssertion( "RDO:0004755"^^xsd:string) AnnotationAssertion( "MESH:D000306"^^xsd:string) AnnotationAssertion( "Adrenal Cortex Neoplasm"^^xsd:string) AnnotationAssertion( "Adrenal cortical tumor, somatic"^^xsd:string) AnnotationAssertion( "adrenal cortical tumors"^^xsd:string) AnnotationAssertion( "neoplasm of adrenal cortex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005582"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Cortex Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ectopic Junctional Tachycardia) AnnotationAssertion(Annotation( "MESH:D013613"^^xsd:string) "A rare form of supraventricular tachycardia caused by automatic, not reentrant, conduction initiated from sites at the atrioventricular junction, but not the ATRIOVENTRICULAR NODE. It usually occurs during myocardial infarction, after heart surgery, or in digitalis intoxication with a HEART RATE ranging from 140 to 250 beats per minute."^^xsd:string) AnnotationAssertion( "MESH:D013613"^^xsd:string) AnnotationAssertion( "Ectopic Junctional Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005583"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopic Junctional Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Hepatic Porphyrias) AnnotationAssertion( "A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues."^^xsd:string) AnnotationAssertion( "MESH:D017094"^^xsd:string) AnnotationAssertion( "Hepatic Porphyria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005584"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatic Porphyrias"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Posterior Polar, 5) AnnotationAssertion( "MESH:C535340"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005585"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Posterior Polar, 5"^^xsd:string) SubClassOf( ) # Class: (Synpolydactyly 1) AnnotationAssertion( "MIM:186000"^^xsd:string) AnnotationAssertion( "MESH:C538153"^^xsd:string) AnnotationAssertion( "NCI:C75005"^^xsd:string) AnnotationAssertion( "SDTY2"^^xsd:string) AnnotationAssertion( "SPD1"^^xsd:string) AnnotationAssertion( "SYNDACTYLY, TYPE II"^^xsd:string) AnnotationAssertion( "SYNPOLYDACTYLY TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005586"^^xsd:string) AnnotationAssertion(rdfs:label "Synpolydactyly 1"^^xsd:string) SubClassOf( ) # Class: (Starvation) AnnotationAssertion(Annotation( "MESH:D013217"^^xsd:string) "Lengthy and continuous deprivation of food. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "MESH:D013217"^^xsd:string) AnnotationAssertion( "Famine"^^xsd:string) AnnotationAssertion( "Famines"^^xsd:string) AnnotationAssertion( "Starvations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005587"^^xsd:string) AnnotationAssertion(rdfs:label "Starvation"^^xsd:string) SubClassOf( ) # Class: (Thyrocerebral-Retinal Syndrome) AnnotationAssertion( "MIM:274240"^^xsd:string) AnnotationAssertion( "MESH:C536908"^^xsd:string) AnnotationAssertion( "Thyrocerebroretinal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005588"^^xsd:string) AnnotationAssertion(rdfs:label "Thyrocerebral-Retinal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AIDS Arteritis, Central Nervous System) AnnotationAssertion(Annotation( "MESH:D020943"^^xsd:string) "Inflammation of ARTERIES in the CENTRAL NERVOUS SYSTEM that occurs in patients with ACQUIRED IMMUNODEFICIENCY SYNDROME or AIDS-RELATED OPPORTUNISTIC INFECTIONS."^^xsd:string) AnnotationAssertion( "EFO:0007198"^^xsd:string) AnnotationAssertion( "MESH:D020943"^^xsd:string) AnnotationAssertion( "AIDS Associated Cerebral Aneurysmal Arteriopathy"^^xsd:string) AnnotationAssertion( "HIV 1 Associated CNS Vasculitis"^^xsd:string) AnnotationAssertion( "HIV Associated Vasculitis of the Central Nervous System"^^xsd:string) AnnotationAssertion( "HIV-1-Associated CNS Vasculitides"^^xsd:string) AnnotationAssertion( "HIV-Associated CNS Vasculitides"^^xsd:string) AnnotationAssertion( "HIV-Associated CNS Vasculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005589"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS Arteritis, Central Nervous System"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lymphatic Malformation 14) AnnotationAssertion(Annotation( "MIM:620602"^^xsd:string) "An autosomal dominant disorder characterized by primary lymphedema. Caused by heterozygous mutation in the ERG gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:07:34Z"^^xsd:string) AnnotationAssertion( "MIM:620602"^^xsd:string) AnnotationAssertion( "LMPHM14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005590"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 14"^^xsd:string) SubClassOf( ) # Class: (Potato Nose) AnnotationAssertion( "MIM:164000"^^xsd:string) AnnotationAssertion( "MESH:C538354"^^xsd:string) AnnotationAssertion( "anomalous shape of nose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005591"^^xsd:string) AnnotationAssertion(rdfs:label "Potato Nose"^^xsd:string) SubClassOf( ) # Class: (Testicular Teratoma) AnnotationAssertion( "EFO:1000573"^^xsd:string) AnnotationAssertion( "MESH:C562472"^^xsd:string) AnnotationAssertion( "NCI:C128123"^^xsd:string) AnnotationAssertion( "NCI:C3877"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005592"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Teratoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crystal Arthropathies) AnnotationAssertion(Annotation( "MESH:D000070657"^^xsd:string) "Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified according to the chemical nature of the crystals such as CALCIUM PYROPHOSPHATE; basic CALCIUM PHOSPHATES; and monosodium urate (see URIC ACID)."^^xsd:string) AnnotationAssertion( "MESH:D000070657"^^xsd:string) AnnotationAssertion( "Crystal Arthritides"^^xsd:string) AnnotationAssertion( "Crystal Arthritis"^^xsd:string) AnnotationAssertion( "Crystal Arthropathy"^^xsd:string) AnnotationAssertion( "Crystalline Arthritides"^^xsd:string) AnnotationAssertion( "Crystalline Arthritis"^^xsd:string) AnnotationAssertion( "Crystalline Arthropathies"^^xsd:string) AnnotationAssertion( "Crystalline Arthropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005593"^^xsd:string) AnnotationAssertion(rdfs:label "Crystal Arthropathies"^^xsd:string) SubClassOf( ) # Class: (Camptodactyly Syndrome Guadalajara Type 1) AnnotationAssertion( "MIM:211910"^^xsd:string) AnnotationAssertion( "GARD:1067"^^xsd:string) AnnotationAssertion( "MESH:C537970"^^xsd:string) AnnotationAssertion( "Camptodactyly Syndrome, Guadalajara, Type I"^^xsd:string) AnnotationAssertion( "FTSS"^^xsd:string) AnnotationAssertion( "GCS1"^^xsd:string) AnnotationAssertion( "Guadalajara camptodactyly syndrome"^^xsd:string) AnnotationAssertion( "facio-thoraco-skeletal syndrome"^^xsd:string) AnnotationAssertion( "faciothoracoskeletal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005594"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Syndrome Guadalajara Type 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Corneal Wavefront Aberration) AnnotationAssertion(Annotation( "MESH:D057108"^^xsd:string) "Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity."^^xsd:string) AnnotationAssertion( "MESH:D057108"^^xsd:string) AnnotationAssertion( "Corneal Wavefront Aberrations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005596"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Wavefront Aberration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lumpy Skin Disease) AnnotationAssertion(Annotation( "MESH:D008166"^^xsd:string) "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin."^^xsd:string) AnnotationAssertion( "EFO:0007349"^^xsd:string) AnnotationAssertion( "MESH:D008166"^^xsd:string) AnnotationAssertion( "Lumpy Skin Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005597"^^xsd:string) AnnotationAssertion(rdfs:label "Lumpy Skin Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malignant Carcinoid Syndrome) AnnotationAssertion(Annotation( "MESH:D008303"^^xsd:string) "A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000852"^^xsd:string) AnnotationAssertion( "MESH:D008303"^^xsd:string) AnnotationAssertion( "Malignant Carcinoid Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005598"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Carcinoid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly-Nystagmus-Cerebellar Ataxia) AnnotationAssertion( "MIM:113400"^^xsd:string) AnnotationAssertion( "RDO:0014624"^^xsd:string) AnnotationAssertion( "MESH:C566192"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005599"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly-Nystagmus-Cerebellar Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infarction) AnnotationAssertion(Annotation( "MESH:D007238"^^xsd:string) "Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS."^^xsd:string) AnnotationAssertion( "EFO:0009463"^^xsd:string) AnnotationAssertion( "MESH:D007238"^^xsd:string) AnnotationAssertion( "Infarctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005600"^^xsd:string) AnnotationAssertion(rdfs:label "Infarction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CATIFA Syndrome) AnnotationAssertion(Annotation( "MIM:618761"^^xsd:string) "A disease characterized by global developmental delay, impaired intellectual development, and ADHD. Patients show an elongated face with long philtrum, small ears, ocular anomalies, orofacial cleft and misaligned teeth."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-13T13:43:36Z"^^xsd:string) AnnotationAssertion( "MIM:618761"^^xsd:string) AnnotationAssertion( "CATIFA"^^xsd:string) AnnotationAssertion( "cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005601"^^xsd:string) AnnotationAssertion(rdfs:label "CATIFA Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Calculi) AnnotationAssertion(Annotation( "MESH:D002137"^^xsd:string) "An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones."^^xsd:string) AnnotationAssertion( "MESH:D002137"^^xsd:string) AnnotationAssertion( "Biliary or Urinary Stones"^^xsd:string) AnnotationAssertion( "Calculus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005602"^^xsd:string) AnnotationAssertion(rdfs:label "Calculi"^^xsd:string) SubClassOf( ) # Class: (Muscle Hypotonia) AnnotationAssertion(Annotation( "MESH:D009123"^^xsd:string) "A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching."^^xsd:string) AnnotationAssertion( "MESH:D009123"^^xsd:string) AnnotationAssertion( "Decreased Muscle Tone"^^xsd:string) AnnotationAssertion( "Flaccid Muscle Tone"^^xsd:string) AnnotationAssertion( "Floppy Muscle"^^xsd:string) AnnotationAssertion( "Floppy Muscles"^^xsd:string) AnnotationAssertion( "Hypomyotonia"^^xsd:string) AnnotationAssertion( "Hypotonia"^^xsd:string) AnnotationAssertion( "Hypotonias, Unilateral"^^xsd:string) AnnotationAssertion( "Muscle Flaccidity"^^xsd:string) AnnotationAssertion( "Muscle Hypotony"^^xsd:string) AnnotationAssertion( "Muscle Tone Atonic"^^xsd:string) AnnotationAssertion( "Muscle Tone Atonics"^^xsd:string) AnnotationAssertion( "Muscle Tone Poor"^^xsd:string) AnnotationAssertion( "Muscular Flaccidities"^^xsd:string) AnnotationAssertion( "Muscular Flaccidity"^^xsd:string) AnnotationAssertion( "Muscular Hypotonia"^^xsd:string) AnnotationAssertion( "Neonatal Hypotonia"^^xsd:string) AnnotationAssertion( "Neonatal Hypotonias"^^xsd:string) AnnotationAssertion( "FACIAL HYPOTONIA"^^xsd:string) AnnotationAssertion( "GENERALIZED HYPOTONIA"^^xsd:string) AnnotationAssertion( "Unilateral Hypotonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005603"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Hypotonia"^^xsd:string) SubClassOf( ) # Class: (Recurrent Dislocation of Head of Fibula) AnnotationAssertion( "MIM:135800"^^xsd:string) AnnotationAssertion( "MESH:C565011"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005604"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Dislocation of Head of Fibula"^^xsd:string) SubClassOf( ) # Class: (Arteriovenous Fistula) AnnotationAssertion(Annotation( "MESH:D001164"^^xsd:string) "An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE."^^xsd:string) AnnotationAssertion( "MESH:D001164"^^xsd:string) AnnotationAssertion( "NCI:C36192"^^xsd:string) AnnotationAssertion( "Arteriovenous Aneurysm"^^xsd:string) AnnotationAssertion( "Arteriovenous Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005605"^^xsd:string) AnnotationAssertion(rdfs:label "Arteriovenous Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T11:08:27Z"^^xsd:string) AnnotationAssertion( "MIM:618272"^^xsd:string) AnnotationAssertion( "GLOW"^^xsd:string) AnnotationAssertion( "GLOW syndrome"^^xsd:string) AnnotationAssertion( "GLOW syndrome, somatic mosaic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005606"^^xsd:string) AnnotationAssertion(rdfs:label "Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Paraganglioma-Pheochromocytoma Syndromes) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005607"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Paraganglioma-Pheochromocytoma Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stern Lubinsky Durrie Syndrome) AnnotationAssertion( "MESH:C537488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005608"^^xsd:string) AnnotationAssertion(rdfs:label "Stern Lubinsky Durrie Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aksu von Stockhausen Syndrome) AnnotationAssertion( "MESH:C535611"^^xsd:string) AnnotationAssertion( "RDO:0000835"^^xsd:string) AnnotationAssertion( "Hereditary branchial arch defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005609"^^xsd:string) AnnotationAssertion(rdfs:label "Aksu von Stockhausen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukemic Infiltration) AnnotationAssertion(Annotation( "MESH:D017254"^^xsd:string) "A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site."^^xsd:string) AnnotationAssertion( "MESH:D017254"^^xsd:string) AnnotationAssertion( "Leukemic Infiltrations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005610"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemic Infiltration"^^xsd:string) SubClassOf( ) # Class: (Malformations of Cortical Development, Group I) AnnotationAssertion(Annotation( "MESH:D065703"^^xsd:string) "Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells."^^xsd:string) AnnotationAssertion( "MESH:D065703"^^xsd:string) AnnotationAssertion( "Abnormal Proliferation Cortical Malformations"^^xsd:string) AnnotationAssertion( "Cortical Malformations, Group I"^^xsd:string) AnnotationAssertion( "Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis"^^xsd:string) AnnotationAssertion( "Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005611"^^xsd:string) AnnotationAssertion(rdfs:label "Malformations of Cortical Development, Group I"^^xsd:string) SubClassOf( ) # Class: (Endometrial Intraepithelial Neoplasia) AnnotationAssertion(Annotation( "EFO:1000235"^^xsd:string) Annotation( "NCI:C27789"^^xsd:string) "This is a premalignant neoplastic process that affects the endometrial epithelium and glands. It is a neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutation"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-07T12:05:45Z"^^xsd:string) AnnotationAssertion( "EFO:1000165"^^xsd:string) AnnotationAssertion( "EFO:1000235"^^xsd:string) AnnotationAssertion( "Atypical Endometrial Hyperplasia"^^xsd:string) AnnotationAssertion( "Atypical Hyperplasia of Endometrium"^^xsd:string) AnnotationAssertion( "Atypical hyperplasia/Endometrial intraepithelial neoplasia"^^xsd:string) AnnotationAssertion( "EAH/EIN"^^xsd:string) AnnotationAssertion( "EIN"^^xsd:string) AnnotationAssertion( "EmGD"^^xsd:string) AnnotationAssertion( "Endometrial Atypical Hyperplasia"^^xsd:string) AnnotationAssertion( "Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "Endometrial Glandular Dysplasia"^^xsd:string) AnnotationAssertion( "Endometrial Hyperplasia with Atypia"^^xsd:string) AnnotationAssertion( "Cervical Glandular Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005612"^^xsd:string) AnnotationAssertion(rdfs:label "Endometrial Intraepithelial Neoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myopia 1) AnnotationAssertion( "MIM:310460"^^xsd:string) AnnotationAssertion( "MESH:C564091"^^xsd:string) AnnotationAssertion( "MYOPIA 1, X-LINKED"^^xsd:string) AnnotationAssertion( "MYP1"^^xsd:string) AnnotationAssertion( "Myopia, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005613"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Methylmalonic Aciduria and Homocystinuria) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-06T14:36:37Z"^^xsd:string) AnnotationAssertion( "GARD:3579"^^xsd:string) AnnotationAssertion( "MESH:C537359"^^xsd:string) AnnotationAssertion( "MIM:PS277400"^^xsd:string) AnnotationAssertion( "MONDO:0016826"^^xsd:string) AnnotationAssertion( "ORDO:26"^^xsd:string) AnnotationAssertion( "Methylmalonic acidemia with homocystinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005614"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonic Aciduria and Homocystinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 38) AnnotationAssertion( "Characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Caused by compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T09:25:57Z"^^xsd:string) AnnotationAssertion( "MIM:619476"^^xsd:string) AnnotationAssertion( "JBTS38"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005615"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 38"^^xsd:string) SubClassOf( ) # Class: (Micrognathism) AnnotationAssertion(Annotation( "MESH:D008844"^^xsd:string) "Abnormally small jaw."^^xsd:string) AnnotationAssertion( "MESH:D008844"^^xsd:string) AnnotationAssertion( "Congenital Micrognathia"^^xsd:string) AnnotationAssertion( "Congenital Micrognathism"^^xsd:string) AnnotationAssertion( "Congenital Micrognathisms"^^xsd:string) AnnotationAssertion( "Mandibular Micrognathia"^^xsd:string) AnnotationAssertion( "Mandibular Micrognathias"^^xsd:string) AnnotationAssertion( "Mandibular Micrognathism"^^xsd:string) AnnotationAssertion( "Mandibular Micrognathisms"^^xsd:string) AnnotationAssertion( "Micrognathia"^^xsd:string) AnnotationAssertion( "Micrognathias"^^xsd:string) AnnotationAssertion( "congenital micrognathias"^^xsd:string) AnnotationAssertion( "micrognathisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005616"^^xsd:string) AnnotationAssertion(rdfs:label "Micrognathism"^^xsd:string) SubClassOf( ) # Class: (Perioral Dermatitis) AnnotationAssertion(Annotation( "MESH:D019557"^^xsd:string) "A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)"^^xsd:string) AnnotationAssertion( "RDO:0007278"^^xsd:string) AnnotationAssertion( "EFO:1001305"^^xsd:string) AnnotationAssertion( "MESH:D019557"^^xsd:string) AnnotationAssertion( "Periocular Dermatitides"^^xsd:string) AnnotationAssertion( "Periocular Dermatitis"^^xsd:string) AnnotationAssertion( "Perioral Dermatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005617"^^xsd:string) AnnotationAssertion(rdfs:label "Perioral Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acetylcarnitine Deficiency) AnnotationAssertion( "RDO:0001413"^^xsd:string) AnnotationAssertion( "MESH:C536006"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005619"^^xsd:string) AnnotationAssertion(rdfs:label "Acetylcarnitine Deficiency"^^xsd:string) SubClassOf( ) # Class: (Tracheal Agenesis without Tracheoesophageal Fistula) AnnotationAssertion( "MESH:C536976"^^xsd:string) AnnotationAssertion( "RDO:0002711"^^xsd:string) AnnotationAssertion( "Type 2 tracheal agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005620"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheal Agenesis without Tracheoesophageal Fistula"^^xsd:string) SubClassOf( ) # Class: (Combined Oxidative Phosphorylation Deficiency 59) AnnotationAssertion(Annotation( "MIM:620646"^^xsd:string) "This disease may present as a lethal infantile form of Leigh syndrome or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood. Caused by homozygous or compound heterozygous mutation in the MRPL39 gene on chromosome 21q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-12T17:51:32Z"^^xsd:string) AnnotationAssertion( "MIM:620646"^^xsd:string) AnnotationAssertion( "COXPD59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005621"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Oxidative Phosphorylation Deficiency 59"^^xsd:string) SubClassOf( ) # Class: (Congenital Ichthyosis with Trichothiodystrophy) AnnotationAssertion( "MESH:C566643"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005622"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Ichthyosis with Trichothiodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Iida Kannari Syndrome) AnnotationAssertion( "GARD:3249"^^xsd:string) AnnotationAssertion( "MESH:C536284"^^xsd:string) AnnotationAssertion( "MONDO:0043116"^^xsd:string) AnnotationAssertion( "Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005623"^^xsd:string) AnnotationAssertion(rdfs:label "Iida Kannari Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Photoparoxysmal Response 3) AnnotationAssertion( "MIM:609573"^^xsd:string) AnnotationAssertion( "MESH:C563695"^^xsd:string) AnnotationAssertion( "PPR3"^^xsd:string) AnnotationAssertion( "photoparoxysmal response with or without myoclonic epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005624"^^xsd:string) AnnotationAssertion(rdfs:label "Photoparoxysmal Response 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Border Disease) AnnotationAssertion(Annotation( "MESH:D001882"^^xsd:string) "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus."^^xsd:string) AnnotationAssertion( "EFO:0007177"^^xsd:string) AnnotationAssertion( "MESH:D001882"^^xsd:string) AnnotationAssertion( "Border Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005625"^^xsd:string) AnnotationAssertion(rdfs:label "Border Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniosynostosis, Anal Anomalies, and Porokeratosis) AnnotationAssertion( "MIM:603116"^^xsd:string) AnnotationAssertion( "MESH:C536789"^^xsd:string) AnnotationAssertion( "CAP syndrome"^^xsd:string) AnnotationAssertion( "CDAGS syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005626"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis, Anal Anomalies, and Porokeratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metabolic Brain Diseases) AnnotationAssertion(Annotation( "MESH:D001928"^^xsd:string) "Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function."^^xsd:string) AnnotationAssertion( "RDO:0001330"^^xsd:string) AnnotationAssertion( "MESH:D001928"^^xsd:string) AnnotationAssertion( "Acquired Metabolic Diseases, Brain"^^xsd:string) AnnotationAssertion( "Acquired Metabolic Encephalopathies"^^xsd:string) AnnotationAssertion( "Acquired Metabolic Encephalopathy"^^xsd:string) AnnotationAssertion( "Brain Disorders, Metabolic, Acquired"^^xsd:string) AnnotationAssertion( "Brain Metabolic Disorder"^^xsd:string) AnnotationAssertion( "Brain Metabolic Disorders"^^xsd:string) AnnotationAssertion( "CNS Metabolic Disorder"^^xsd:string) AnnotationAssertion( "CNS Metabolic Disorders"^^xsd:string) AnnotationAssertion( "CNS Metabolic Disorders, Acquired"^^xsd:string) AnnotationAssertion( "Central Nervous System Metabolic Disorders"^^xsd:string) AnnotationAssertion( "Metabolic Brain Disease"^^xsd:string) AnnotationAssertion( "Metabolic Brain Syndrome"^^xsd:string) AnnotationAssertion( "Metabolic Brain Syndrome, Acquired"^^xsd:string) AnnotationAssertion( "Metabolic Brain Syndromes"^^xsd:string) AnnotationAssertion( "Metabolic Brain Syndromes, Acquired"^^xsd:string) AnnotationAssertion( "Metabolic Disorder, Central Nervous System, Acquired"^^xsd:string) AnnotationAssertion( "Metabolic Encephalopathies"^^xsd:string) AnnotationAssertion( "Metabolic Encephalopathy"^^xsd:string) AnnotationAssertion( "Nervous System Acquired Metabolic Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005627"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Brain Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ataxia-Telangiectasia Variant) AnnotationAssertion( "MESH:C566865"^^xsd:string) AnnotationAssertion( "RDO:0015085"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005628"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia-Telangiectasia Variant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Rupture) AnnotationAssertion(Annotation( "MESH:D012421"^^xsd:string) "Forcible or traumatic tear or break of an organ or other soft part of the body."^^xsd:string) AnnotationAssertion( "MESH:D012421"^^xsd:string) AnnotationAssertion( "Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005630"^^xsd:string) AnnotationAssertion(rdfs:label "Rupture"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS) AnnotationAssertion( "IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:606220"^^xsd:string) AnnotationAssertion( "MESH:C565248"^^xsd:string) AnnotationAssertion( "IDDSFAS"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS"^^xsd:string) AnnotationAssertion( "Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005631"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cocaine-Related Disorders) AnnotationAssertion(Annotation( "MESH:D019970"^^xsd:string) "Disorders related or resulting from use of cocaine."^^xsd:string) AnnotationAssertion( "EFO:0010445"^^xsd:string) AnnotationAssertion( "MESH:D019970"^^xsd:string) AnnotationAssertion( "cocaine-related disorder"^^xsd:string) AnnotationAssertion( "cocaine use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005632"^^xsd:string) AnnotationAssertion(rdfs:label "Cocaine-Related Disorders"^^xsd:string) SubClassOf( ) # Class: (Headache Disorders, Secondary) AnnotationAssertion(Annotation( "MESH:D051271"^^xsd:string) "Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal."^^xsd:string) AnnotationAssertion( "MESH:D051271"^^xsd:string) AnnotationAssertion( "RDO:0006806"^^xsd:string) AnnotationAssertion( "Analgesic Overuse Headache"^^xsd:string) AnnotationAssertion( "Analgesic Overuse Headaches"^^xsd:string) AnnotationAssertion( "Analgesic Rebound Headache"^^xsd:string) AnnotationAssertion( "Analgesic Rebound Headaches"^^xsd:string) AnnotationAssertion( "Medication Overuse Headache"^^xsd:string) AnnotationAssertion( "Medication Overuse Headaches"^^xsd:string) AnnotationAssertion( "Secondary Headache Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005633"^^xsd:string) AnnotationAssertion(rdfs:label "Headache Disorders, Secondary"^^xsd:string) SubClassOf( ) # Class: (Tolchin-Le Caignec Syndrome) AnnotationAssertion( "A developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-08-06T08:09:18Z"^^xsd:string) AnnotationAssertion( "MIM:618971"^^xsd:string) AnnotationAssertion( "TOLCAS"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder with behavioral abnormalities and variable bone defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005634"^^xsd:string) AnnotationAssertion(rdfs:label "Tolchin-Le Caignec Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Estren-Dameshek Variant of Fanconi Anemia) AnnotationAssertion( "MESH:C565573"^^xsd:string) AnnotationAssertion( "MESH:C565572"^^xsd:string) AnnotationAssertion( "Estren-Dameshek Variant of Fanconi Pancytopenia"^^xsd:string) AnnotationAssertion( "Fanconi Anemia, Estren-Dameshek Variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005635"^^xsd:string) AnnotationAssertion(rdfs:label "Estren-Dameshek Variant of Fanconi Anemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Enzootic Bovine Leukosis) AnnotationAssertion(Annotation( "MESH:D016583"^^xsd:string) "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding."^^xsd:string) AnnotationAssertion( "EFO:1001315"^^xsd:string) AnnotationAssertion( "MESH:D016583"^^xsd:string) AnnotationAssertion( "NCI:C131469"^^xsd:string) AnnotationAssertion( "NCI:C134767"^^xsd:string) AnnotationAssertion( "Bovine Leukemia"^^xsd:string) AnnotationAssertion( "Bovine Leukoses"^^xsd:string) AnnotationAssertion( "Bovine Leukosis"^^xsd:string) AnnotationAssertion( "Bovine Lymphoma"^^xsd:string) AnnotationAssertion( "Bovine Lymphomas"^^xsd:string) AnnotationAssertion( "Bovine Lymphosarcoma"^^xsd:string) AnnotationAssertion( "Bovine Lymphosarcomas"^^xsd:string) AnnotationAssertion( "bovine leukemias"^^xsd:string) AnnotationAssertion( "enzootic bovine leukoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005637"^^xsd:string) AnnotationAssertion(rdfs:label "Enzootic Bovine Leukosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paresis, Glaucoma, and Mental Retardation) AnnotationAssertion( "MIM:270850"^^xsd:string) AnnotationAssertion( "MESH:C564809"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005638"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paresis, Glaucoma, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mandibular Fractures) AnnotationAssertion(Annotation( "MESH:D008337"^^xsd:string) "Fractures of the lower jaw."^^xsd:string) AnnotationAssertion( "MESH:D008337"^^xsd:string) AnnotationAssertion( "Mandibular Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005639"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Fractures"^^xsd:string) SubClassOf( ) # Class: (Complete Atrioventricular Septal Defect) AnnotationAssertion( "MESH:C535974"^^xsd:string) AnnotationAssertion( "RDO:0001366"^^xsd:string) AnnotationAssertion( "Common atrioventricular canal"^^xsd:string) AnnotationAssertion( "Complete atrioventricular canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005640"^^xsd:string) AnnotationAssertion(rdfs:label "Complete Atrioventricular Septal Defect"^^xsd:string) SubClassOf( ) # Class: (GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES) AnnotationAssertion( "An intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617260"^^xsd:string) AnnotationAssertion( "GDACCF"^^xsd:string) AnnotationAssertion( "ZNF148-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005641"^^xsd:string) AnnotationAssertion(rdfs:label "GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Odontogenic Myxoma) AnnotationAssertion( "An uncommon benign odontogenic tumor arising from embryonic connective tissue associated with tooth formation. It is a slow-growing, expansile, painless, non-metastasizing, central tumor of jaws, chiefly the mandible."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005642"^^xsd:string) AnnotationAssertion(rdfs:label "Odontogenic Myxoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Diabetes Mellitus) AnnotationAssertion(Annotation( "MESH:D003921"^^xsd:string) "Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY."^^xsd:string) AnnotationAssertion( "MESH:D003921"^^xsd:string) AnnotationAssertion( "Alloxan Diabetes"^^xsd:string) AnnotationAssertion( "Experimental Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "Streptozocin Diabete"^^xsd:string) AnnotationAssertion( "streptozocin diabetes"^^xsd:string) AnnotationAssertion( "streptozotocin diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005643"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Diabetes Mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amniotic Band Syndrome) AnnotationAssertion(Annotation( "MESH:D000652"^^xsd:string) "A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations."^^xsd:string) AnnotationAssertion( "MESH:D000652"^^xsd:string) AnnotationAssertion( "RDO:0000036"^^xsd:string) AnnotationAssertion( "Amniotic Band"^^xsd:string) AnnotationAssertion( "Amniotic Bands"^^xsd:string) AnnotationAssertion( "Annular Groove"^^xsd:string) AnnotationAssertion( "Annular Grooves"^^xsd:string) AnnotationAssertion( "Intrauterine Amputation"^^xsd:string) AnnotationAssertion( "Intrauterine Amputations"^^xsd:string) AnnotationAssertion( "Intrauterine Ring Constriction"^^xsd:string) AnnotationAssertion( "Intrauterine Ring Constrictions"^^xsd:string) AnnotationAssertion( "Streeter Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005644"^^xsd:string) AnnotationAssertion(rdfs:label "Amniotic Band Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Blepharochalasis and Double Lip) AnnotationAssertion( "MIM:109900"^^xsd:string) AnnotationAssertion( "MESH:C562742"^^xsd:string) AnnotationAssertion( "Ascher Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005645"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharochalasis and Double Lip"^^xsd:string) SubClassOf( ) # Class: (Cheyne-Stokes Respiration) AnnotationAssertion(Annotation( "MESH:D002639"^^xsd:string) "An abnormal pattern of breathing characterized by alternating periods of apnea and deep, rapid breathing. The cycle begins with slow, shallow breaths that gradually increase in depth and rate and is then followed by a period of apnea. The period of apnea can last 5 to 30 seconds, then the cycle repeats every 45 seconds to 3 minutes."^^xsd:string) AnnotationAssertion( "MESH:D002639"^^xsd:string) AnnotationAssertion( "RDO:0005186"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005646"^^xsd:string) AnnotationAssertion(rdfs:label "Cheyne-Stokes Respiration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Uveitis) AnnotationAssertion( "An experimental animal model used for the study of uveitis. It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EAAU"^^xsd:string) AnnotationAssertion( "experimental autoimmune anterior uveitis"^^xsd:string) AnnotationAssertion( "DOID:9005647"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glycogen Storage Disease 0, Muscle) AnnotationAssertion( "MIM:611556"^^xsd:string) AnnotationAssertion( "MESH:C566917"^^xsd:string) AnnotationAssertion( "GSD 0b"^^xsd:string) AnnotationAssertion( "GSD0B"^^xsd:string) AnnotationAssertion( "Muscle Glycogen Synthase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005648"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease 0, Muscle"^^xsd:string) SubClassOf( ) # Class: (Pure Autonomic Failure) AnnotationAssertion(Annotation( "MESH:D054970"^^xsd:string) "A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present."^^xsd:string) AnnotationAssertion( "MESH:D054970"^^xsd:string) AnnotationAssertion( "RDO:0007692"^^xsd:string) AnnotationAssertion( "Bradbury Eggleston Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005649"^^xsd:string) AnnotationAssertion(rdfs:label "Pure Autonomic Failure"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type) AnnotationAssertion(Annotation( "MIM:620663"^^xsd:string) "A severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms. Caused by compound heterozygous mutation in the ERI1 gene on chromosome 8p23."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:08:06Z"^^xsd:string) AnnotationAssertion( "ERI1-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:620663"^^xsd:string) AnnotationAssertion( "SEMDGC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005650"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type"^^xsd:string) SubClassOf( ) # Class: (NOR POLYAGGLUTINATION SYNDROME) AnnotationAssertion(Annotation( "MIM:111400"^^xsd:string) "This is a hematopoietic system disease condition that is characterized by polyagglutination in vitro when exposed to almost all ABO compatible normal sera, but not to cord sera. The trait is transmitted in an autosomal dominant pattern of inheritance and agglutination with control human serum samples could be enhanced when the NOR red blood cells (the agglutinating erythrocytes) were treated with proteolytic enzymes. The anti-NOR antibody has been determined to be IgM."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-05T08:16:57Z"^^xsd:string) AnnotationAssertion( "PMID:7072192"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005651"^^xsd:string) AnnotationAssertion(rdfs:label "NOR POLYAGGLUTINATION SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Van Den Bosch Syndrome) AnnotationAssertion( "MIM:314500"^^xsd:string) AnnotationAssertion( "MESH:C563129"^^xsd:string) AnnotationAssertion( "RDO:0012517"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005652"^^xsd:string) AnnotationAssertion(rdfs:label "Van Den Bosch Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cornea Plana 1) AnnotationAssertion( "MIM:121400"^^xsd:string) AnnotationAssertion( "MESH:C565158"^^xsd:string) AnnotationAssertion( "CNA1"^^xsd:string) AnnotationAssertion( "CORNEA PLANA 1, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005653"^^xsd:string) AnnotationAssertion(rdfs:label "Cornea Plana 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Paragangliomas 2) AnnotationAssertion( "MIM:601650"^^xsd:string) AnnotationAssertion( "MESH:C566646"^^xsd:string) AnnotationAssertion( "PGL2"^^xsd:string) AnnotationAssertion( "PPGL2"^^xsd:string) AnnotationAssertion( "familial glomus tumors 2"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005655"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Optic Atrophy 13) AnnotationAssertion( "MIM:165510"^^xsd:string) AnnotationAssertion( "MESH:C563494"^^xsd:string) AnnotationAssertion( "OPA13"^^xsd:string) AnnotationAssertion( "optic atrophy 13 with retinal and foveal abnormalities"^^xsd:string) AnnotationAssertion( "optic atrophy with negative electroretinograms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005656"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy 13"^^xsd:string) SubClassOf( ) # Class: (Positive-Pressure Respiration, Intrinsic) AnnotationAssertion(Annotation( "MESH:D018467"^^xsd:string) "Non-therapeutic positive end-expiratory pressure occurring frequently in patients with severe airway obstruction. It can appear with or without the administration of external positive end-expiratory pressure (POSITIVE-PRESSURE RESPIRATION). It presents an important load on the inspiratory muscles which are operating at a mechanical disadvantage due to hyperinflation. Auto-PEEP may cause profound hypotension that should be treated by intravascular volume expansion, increasing the time for expiration, and/or changing from assist mode to intermittent mandatory ventilation mode. (From Harrison's Principles of Internal Medicine, 12th ed, p1127)"^^xsd:string) AnnotationAssertion( "MESH:D018467"^^xsd:string) AnnotationAssertion( "RDO:0007208"^^xsd:string) AnnotationAssertion( "Auto PEEP"^^xsd:string) AnnotationAssertion( "AutoPEEP"^^xsd:string) AnnotationAssertion( "Intrinsic PEEP"^^xsd:string) AnnotationAssertion( "Non Therapeutic Positive Pressure Respiration"^^xsd:string) AnnotationAssertion( "Nontherapeutic Positive Pressure Respiration"^^xsd:string) AnnotationAssertion( "Occult PEEP"^^xsd:string) AnnotationAssertion( "Occult Positive-Pressure Respiration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005657"^^xsd:string) AnnotationAssertion(rdfs:label "Positive-Pressure Respiration, Intrinsic"^^xsd:string) SubClassOf( ) # Class: (Hypoaldosteronism) AnnotationAssertion(Annotation( "MESH:D006994"^^xsd:string) "A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS."^^xsd:string) AnnotationAssertion( "MESH:D006994"^^xsd:string) AnnotationAssertion( "RDO:0003710"^^xsd:string) AnnotationAssertion( "Hyporeninemic Hypoaldosteronism"^^xsd:string) AnnotationAssertion( "Type IV Renal Tubular Acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005658"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoaldosteronism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypopigmentation) AnnotationAssertion(Annotation( "MESH:D017496"^^xsd:string) "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."^^xsd:string) AnnotationAssertion( "MESH:D017496"^^xsd:string) AnnotationAssertion( "RDO:0001250"^^xsd:string) AnnotationAssertion( "Hypomelanoses"^^xsd:string) AnnotationAssertion( "Hypomelanosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005660"^^xsd:string) AnnotationAssertion(rdfs:label "Hypopigmentation"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Keratoderma Palmoplantaris Transgrediens) AnnotationAssertion( "MESH:C536154"^^xsd:string) AnnotationAssertion( "Erythrokeratodermia Figurata, Congenital Familial, in Plaques"^^xsd:string) AnnotationAssertion( "Erythrokeratodermia Variabilis with Erythema Gyratum Repens"^^xsd:string) AnnotationAssertion( "Greither Disease"^^xsd:string) AnnotationAssertion( "Keratosis palmoplantaris transgrediens et progrediens"^^xsd:string) AnnotationAssertion( "transgrediens et progrediens palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE"^^xsd:string) AnnotationAssertion( "DOID:9005662"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoderma Palmoplantaris Transgrediens"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lethal Faciocardiomelic Dysplasia) AnnotationAssertion( "MIM:227270"^^xsd:string) AnnotationAssertion( "MESH:C565578"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005663"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Faciocardiomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pentalogy of Cantrell) AnnotationAssertion(Annotation( "MESH:D058502"^^xsd:string) "Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome."^^xsd:string) AnnotationAssertion( "MIM:313850"^^xsd:string) AnnotationAssertion( "MESH:D058502"^^xsd:string) AnnotationAssertion( "Cantrell Haller Ravitch syndrome"^^xsd:string) AnnotationAssertion( "Cantrell Pentalogy"^^xsd:string) AnnotationAssertion( "Cantrell's Pentalogy"^^xsd:string) AnnotationAssertion( "Cantrells Pentalogy"^^xsd:string) AnnotationAssertion( "THAS"^^xsd:string) AnnotationAssertion( "Thoracoabdominal Syndrome"^^xsd:string) AnnotationAssertion( "Thoracoabdominal Syndromes"^^xsd:string) AnnotationAssertion( "MIDLINE DEFECTS, X-LINKED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005664"^^xsd:string) AnnotationAssertion(rdfs:label "Pentalogy of Cantrell"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic Mesangial Proliferative Glomerulonephritis) AnnotationAssertion( "Chronic inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX."^^xsd:string) AnnotationAssertion( "Chronic nephritic syndrome, diffuse mesangial proliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "PGN - Chronic mesangial proliferative glomerulonephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005665"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Mesangial Proliferative Glomerulonephritis"^^xsd:string) SubClassOf( ) # Class: (Contrast-Induced Nephropathy) AnnotationAssertion( "Impairment of renal function within 48-72 hours of intravenous contrast administration."^^xsd:string) AnnotationAssertion( "RDO:9000018"^^xsd:string) AnnotationAssertion( "CIN"^^xsd:string) AnnotationAssertion( "contrast nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hospital-acquired acute kidney injury"^^xsd:string) AnnotationAssertion( "DOID:9005666"^^xsd:string) AnnotationAssertion(rdfs:label "Contrast-Induced Nephropathy"^^xsd:string) SubClassOf( ) # Class: (Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies) AnnotationAssertion( "MIM:604381"^^xsd:string) AnnotationAssertion( "MESH:C565782"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005667"^^xsd:string) AnnotationAssertion(rdfs:label "Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dental Medial Diastema) AnnotationAssertion( "MIM:125900"^^xsd:string) AnnotationAssertion( "MESH:C565098"^^xsd:string) AnnotationAssertion( "MONDO:0007457"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005668"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Medial Diastema"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ovarian Pregnancy) AnnotationAssertion(Annotation( "MESH:D065172"^^xsd:string) "A type of pregnancy in which EMBRYO IMPLANTATION occurs in an OVARY instead of in the uterine cavity."^^xsd:string) AnnotationAssertion( "MESH:D065172"^^xsd:string) AnnotationAssertion( "Ovarian Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005670"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Pregnancy"^^xsd:string) SubClassOf( ) # Class: (Wells Syndrome) AnnotationAssertion( "MESH:C536693"^^xsd:string) AnnotationAssertion( "Bullous cellulitis with eosinophilia"^^xsd:string) AnnotationAssertion( "Eosinophilic cellulitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005671"^^xsd:string) AnnotationAssertion(rdfs:label "Wells Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Maple Syrup Urine Disease, Type 2) AnnotationAssertion( "MIM:620699"^^xsd:string) AnnotationAssertion( "MESH:C535712"^^xsd:string) AnnotationAssertion( "Intermediate Maple Syrup Urine Disease Type 2"^^xsd:string) AnnotationAssertion( "MSUD2"^^xsd:string) AnnotationAssertion( "Maple Syrup Urine Disease, Type II"^^xsd:string) AnnotationAssertion( "MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005672"^^xsd:string) AnnotationAssertion(rdfs:label "Maple Syrup Urine Disease, Type 2"^^xsd:string) SubClassOf( ) # Class: (Stenotrophomonas Maltophilia Bacteremia) AnnotationAssertion( "MESH:C531821"^^xsd:string) AnnotationAssertion( "RDO:0000221"^^xsd:string) AnnotationAssertion( "Stenotrophomonas maltophilia bacteraemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005673"^^xsd:string) AnnotationAssertion(rdfs:label "Stenotrophomonas Maltophilia Bacteremia"^^xsd:string) SubClassOf( ) # Class: (Hemophilia A with Vascular Abnormality) AnnotationAssertion( "MIM:306800"^^xsd:string) AnnotationAssertion( "MESH:C564415"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005674"^^xsd:string) AnnotationAssertion(rdfs:label "Hemophilia A with Vascular Abnormality"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Webb-Dattani Syndrome) AnnotationAssertion(Annotation( "MIM:615926"^^xsd:string) "An autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-18T11:31:12Z"^^xsd:string) AnnotationAssertion( "MIM:615926"^^xsd:string) AnnotationAssertion( "WEDAS"^^xsd:string) AnnotationAssertion( "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005676"^^xsd:string) AnnotationAssertion(rdfs:label "Webb-Dattani Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Encephalomyelitis, Enzootic Porcine) AnnotationAssertion(Annotation( "MESH:D004682"^^xsd:string) "A picornavirus infection producing symptoms similar to poliomyelitis in pigs."^^xsd:string) AnnotationAssertion( "MESH:D004682"^^xsd:string) AnnotationAssertion( "RDO:0005476"^^xsd:string) AnnotationAssertion( "Porcine Poliomyelitis"^^xsd:string) AnnotationAssertion( "Talfan Disease"^^xsd:string) AnnotationAssertion( "Teschen Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005677"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalomyelitis, Enzootic Porcine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Pityriasis Rubra Pilaris) AnnotationAssertion( "RDO:0000201"^^xsd:string) AnnotationAssertion( "MESH:C531784"^^xsd:string) AnnotationAssertion( "Pityriasis rubra pilaris--familial type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005678"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Pityriasis Rubra Pilaris"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 12) AnnotationAssertion(Annotation( "MIM:620757"^^xsd:string) "An autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the GNE gene on chromosome 9p13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-04-22T17:06:13Z"^^xsd:string) AnnotationAssertion( "MIM:620757"^^xsd:string) AnnotationAssertion( "THC12"^^xsd:string) AnnotationAssertion( "Thrombocytopenia 12 with or without myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005679"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 12"^^xsd:string) SubClassOf( ) # Class: (Primary Release Disorder Of Platelets) AnnotationAssertion( "MIM:176630"^^xsd:string) AnnotationAssertion( "MESH:C566759"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005680"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Release Disorder Of Platelets"^^xsd:string) SubClassOf( ) # Class: (Leukemia P388) AnnotationAssertion(Annotation( "MESH:D007941"^^xsd:string) "An experimental lymphocytic leukemia originally induced in DBA/2 mice by painting with methylcholanthrene."^^xsd:string) AnnotationAssertion( "MESH:D007941"^^xsd:string) AnnotationAssertion( "RDO:0005986"^^xsd:string) AnnotationAssertion( "P388D(1) Leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005681"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemia P388"^^xsd:string) SubClassOf( ) # Class: (SHORT STATURE-MICROGNATHIA SYNDROME) AnnotationAssertion( "This disease has core features of intrauterine growth restriction (IUGR): postnatal short stature that is often rhizomelic and micrognathia."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617164"^^xsd:string) AnnotationAssertion( "ARCN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay"^^xsd:string) AnnotationAssertion( "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY"^^xsd:string) AnnotationAssertion( "SRMMD"^^xsd:string) AnnotationAssertion( "SSMG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005682"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE-MICROGNATHIA SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metabolic Brain Diseases, Inborn) AnnotationAssertion(Annotation( "MESH:D020739"^^xsd:string) "Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero."^^xsd:string) AnnotationAssertion( "RDO:0000346"^^xsd:string) AnnotationAssertion( "MESH:D020739"^^xsd:string) AnnotationAssertion( "CNS Metabolic Disorders, Inborn"^^xsd:string) AnnotationAssertion( "Central Nervous System Inborn Metabolic Diseases"^^xsd:string) AnnotationAssertion( "Central Nervous System Inborn Metabolic Disorders"^^xsd:string) AnnotationAssertion( "Familial Metabolic Brain Diseases"^^xsd:string) AnnotationAssertion( "Familial Metabolic Disorders, Brain"^^xsd:string) AnnotationAssertion( "Inborn Errors of Metabolism, Brain"^^xsd:string) AnnotationAssertion( "Inborn Metabolic Brain Disorders"^^xsd:string) AnnotationAssertion( "Inborn Metabolic Brain Syndrome"^^xsd:string) AnnotationAssertion( "Inherited Metabolic Brain Diseases"^^xsd:string) AnnotationAssertion( "Inherited Metabolic Disorders, Brain"^^xsd:string) AnnotationAssertion( "Metabolic Encephalopathies, Inborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005683"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Brain Diseases, Inborn"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Foreign-Body Migration) AnnotationAssertion(Annotation( "MESH:D005548"^^xsd:string) "Migration of a foreign body from its original location to some other location in the body."^^xsd:string) AnnotationAssertion( "MESH:D005548"^^xsd:string) AnnotationAssertion( "RDO:0005625"^^xsd:string) AnnotationAssertion( "Foreign-Body Migrations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005684"^^xsd:string) AnnotationAssertion(rdfs:label "Foreign-Body Migration"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dandy Walker Cyst) AnnotationAssertion( "MESH:C538507"^^xsd:string) AnnotationAssertion( "Dandy-Walker cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005686"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy Walker Cyst"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 64) AnnotationAssertion(Annotation( "MIM:619188"^^xsd:string) "Characterized by mildly to severely impaired intellectual development (ID) with speech delays. Caused by heterozygous mutation in the ZNF292 gene on chromosome 6q14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-19T10:38:31Z"^^xsd:string) AnnotationAssertion( "MIM:619188"^^xsd:string) AnnotationAssertion( "MRD64"^^xsd:string) AnnotationAssertion( "ZNF292-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 64"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005687"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 64"^^xsd:string) SubClassOf( ) # Class: (Skull Fracture, Depressed) AnnotationAssertion(Annotation( "MESH:D020204"^^xsd:string) "A skull fracture characterized by inward depression of a fragment or section of cranial bone, often compressing the underlying dura mater and brain. Depressed cranial fractures which feature open skin wounds that communicate with skull fragments are referred to as compound depressed skull fractures."^^xsd:string) AnnotationAssertion( "MESH:D020204"^^xsd:string) AnnotationAssertion( "RDO:0007344"^^xsd:string) AnnotationAssertion( "Compound Depressed Skull Fracture"^^xsd:string) AnnotationAssertion( "Compound Depressed Skull Fractures"^^xsd:string) AnnotationAssertion( "Depressed Skull Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005688"^^xsd:string) AnnotationAssertion(rdfs:label "Skull Fracture, Depressed"^^xsd:string) SubClassOf( ) # Class: (Philadelphia Chromosome) AnnotationAssertion(Annotation( "MESH:D010677"^^xsd:string) "An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE)."^^xsd:string) AnnotationAssertion( "MESH:D010677"^^xsd:string) AnnotationAssertion( "RDO:0006338"^^xsd:string) AnnotationAssertion( "Ph 1 Chromosome"^^xsd:string) AnnotationAssertion( "Ph 1 Chromosomes"^^xsd:string) AnnotationAssertion( "Ph1 Chromosome"^^xsd:string) AnnotationAssertion( "Ph1 Chromosomes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005689"^^xsd:string) AnnotationAssertion(rdfs:label "Philadelphia Chromosome"^^xsd:string) SubClassOf( ) # Class: (Mandibulofacial Dysostosis with Mental Deficiency) AnnotationAssertion( "MIM:248400"^^xsd:string) AnnotationAssertion( "MESH:C565420"^^xsd:string) AnnotationAssertion( "MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005690"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibulofacial Dysostosis with Mental Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Muscular Atrophy, Segmental) AnnotationAssertion( "MIM:183020"^^xsd:string) AnnotationAssertion( "MESH:C566670"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005691"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy, Segmental"^^xsd:string) SubClassOf( ) # Class: (Platelet-Type Bleeding Disorder 25) AnnotationAssertion(Annotation( "MIM:620486"^^xsd:string) "An autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Caused by heterozygous mutation in the TPM4 gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:56:11Z"^^xsd:string) AnnotationAssertion( "MIM:620486"^^xsd:string) AnnotationAssertion( "BDPLT25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005692"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Type Bleeding Disorder 25"^^xsd:string) SubClassOf( ) # Class: (Uterine Anomalies) AnnotationAssertion( "MIM:192000"^^xsd:string) AnnotationAssertion( "MESH:C562565"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005693"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Anomalies"^^xsd:string) SubClassOf( ) # Class: (Papillary Thyroid Microcarcinoma) AnnotationAssertion( "MIM:603744"^^xsd:string) AnnotationAssertion( "MESH:C563277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005694"^^xsd:string) AnnotationAssertion(rdfs:label "Papillary Thyroid Microcarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malnutrition) AnnotationAssertion(Annotation( "MESH:D044342"^^xsd:string) "An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement."^^xsd:string) AnnotationAssertion( "EFO:0008572"^^xsd:string) AnnotationAssertion( "MESH:D044342"^^xsd:string) AnnotationAssertion( "Malnourishment"^^xsd:string) AnnotationAssertion( "Malnourishments"^^xsd:string) AnnotationAssertion( "Nutritional Deficiencies"^^xsd:string) AnnotationAssertion( "Nutritional Deficiency"^^xsd:string) AnnotationAssertion( "Undernutrition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005695"^^xsd:string) AnnotationAssertion(rdfs:label "Malnutrition"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:620494"^^xsd:string) "This disease is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Brain imaging is usually normal. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-09-19T14:11:41Z"^^xsd:string) AnnotationAssertion( "MIM:620494"^^xsd:string) AnnotationAssertion( "NEDLBF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005697"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Pseudarthrosis of Clavicle) AnnotationAssertion( "MIM:118980"^^xsd:string) AnnotationAssertion( "MESH:C562548"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005699"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Pseudarthrosis of Clavicle"^^xsd:string) SubClassOf( ) # Class: (Airway Obstruction) AnnotationAssertion(Annotation( "MESH:D000402"^^xsd:string) "Any hindrance to the passage of air into and out of the lungs."^^xsd:string) AnnotationAssertion( "MESH:D000402"^^xsd:string) AnnotationAssertion( "RDO:0004789"^^xsd:string) AnnotationAssertion( "Airway Obstructions"^^xsd:string) AnnotationAssertion( "Choking"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005700"^^xsd:string) AnnotationAssertion(rdfs:label "Airway Obstruction"^^xsd:string) SubClassOf( ) # Class: (GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES) AnnotationAssertion(Annotation( "MIM:619321"^^xsd:string) "This is a disease characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-17T12:02:06Z"^^xsd:string) AnnotationAssertion( "MIM:619321"^^xsd:string) AnnotationAssertion( "GKAF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005701"^^xsd:string) AnnotationAssertion(rdfs:label "GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lubani Al Saleh Teebi Syndrome) AnnotationAssertion( "MESH:C537039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005702"^^xsd:string) AnnotationAssertion(rdfs:label "Lubani Al Saleh Teebi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ruzicka Goerz Anton syndrome) AnnotationAssertion( "MESH:C537192"^^xsd:string) AnnotationAssertion( "Ichthyosis deafness mental retardation skeletal anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005703"^^xsd:string) AnnotationAssertion(rdfs:label "Ruzicka Goerz Anton syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Avulsion Fractures) AnnotationAssertion(Annotation( "MESH:D000071562"^^xsd:string) "Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES."^^xsd:string) AnnotationAssertion( "MESH:D000071562"^^xsd:string) AnnotationAssertion( "Avulsion Fracture"^^xsd:string) AnnotationAssertion( "Sprain Fracture"^^xsd:string) AnnotationAssertion( "Sprain Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005704"^^xsd:string) AnnotationAssertion(rdfs:label "Avulsion Fractures"^^xsd:string) SubClassOf( ) # Class: (Fairbank Disease) AnnotationAssertion( "MESH:C536393"^^xsd:string) AnnotationAssertion( "RDO:0001964"^^xsd:string) AnnotationAssertion( "Dysplasia epiphysealis multiplex"^^xsd:string) AnnotationAssertion( "Epiphyseal Dysplasia, Ribbing Type"^^xsd:string) AnnotationAssertion( "Epiphyseal dysplasia Fairbank type"^^xsd:string) AnnotationAssertion( "Fairbank multiple epiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005705"^^xsd:string) AnnotationAssertion(rdfs:label "Fairbank Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Benign Familial Neonatal Seizures, 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-15T11:08:01Z"^^xsd:string) AnnotationAssertion( "MIM:608217"^^xsd:string) AnnotationAssertion( "BFNC3"^^xsd:string) AnnotationAssertion( "BFNS3"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005706"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Neonatal Seizures, 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Larsen-Like Syndrome, Lethal Type) AnnotationAssertion( "MIM:245650"^^xsd:string) AnnotationAssertion( "MESH:C537872"^^xsd:string) AnnotationAssertion( "Larsen-like multiple joint dislocation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005707"^^xsd:string) AnnotationAssertion(rdfs:label "Larsen-Like Syndrome, Lethal Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hand-Foot Syndrome) AnnotationAssertion(Annotation( "MESH:D060831"^^xsd:string) "Chemotherapy-induced dermal side effects that are associated with the use of various CYTOSTATIC AGENTS. Symptoms range from mild ERYTHEMA and/or PARESTHESIA to severe ulcerative dermatitis with debilitating pain involving typically palmoplantar and intertriginous areas. These cutaneous manifestations are sometimes accompanied by nail anomalies."^^xsd:string) AnnotationAssertion( "EFO:1001893"^^xsd:string) AnnotationAssertion( "MESH:D060831"^^xsd:string) AnnotationAssertion( "RDO:0010051"^^xsd:string) AnnotationAssertion( "Chemotherapy Induced Acral Erythema"^^xsd:string) AnnotationAssertion( "Chemotherapy Induced Palmoplantar Erythrodysesthesia"^^xsd:string) AnnotationAssertion( "Chemotherapy-Induced Acral Erythemas"^^xsd:string) AnnotationAssertion( "Chemotherapy-Induced Palmoplantar Erythrodysesthesias"^^xsd:string) AnnotationAssertion( "Hand-Foot Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005708"^^xsd:string) AnnotationAssertion(rdfs:label "Hand-Foot Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keratitis-Ichthyosis-Deafness Syndrome) AnnotationAssertion( "MESH:C580224"^^xsd:string) AnnotationAssertion( "MIM:PS148210"^^xsd:string) AnnotationAssertion( "keratitis, ichthyosis, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005709"^^xsd:string) AnnotationAssertion(rdfs:label "Keratitis-Ichthyosis-Deafness Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (LONG-OLSEN-DISTELMAIER SYNDROME) AnnotationAssertion(Annotation( "MIM:620609"^^xsd:string) "This disease is a severe, early-onset disease with multiple system involvement and lethal dilated cardiomyopathy (DCM) as a core clinical feature."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-04-04T18:28:46Z"^^xsd:string) AnnotationAssertion( "MIM:620609"^^xsd:string) AnnotationAssertion( "LNGODS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005710"^^xsd:string) AnnotationAssertion(rdfs:label "LONG-OLSEN-DISTELMAIER SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 115) AnnotationAssertion(Annotation( "MIM:620632"^^xsd:string) "An autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Caused by homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:56:59Z"^^xsd:string) AnnotationAssertion( "MIM:620632"^^xsd:string) AnnotationAssertion( "IMD115"^^xsd:string) AnnotationAssertion( "Immunodeficiency 115 with autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005711"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 115"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Severe Congenital Liver Disease) AnnotationAssertion(Annotation( "MIM:619991"^^xsd:string) "An autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Caused by homozygous or compound heterozygous mutation in the FOCAD gene on chromosome 9p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-22T09:18:50Z"^^xsd:string) AnnotationAssertion( "MIM:619991"^^xsd:string) AnnotationAssertion( "FOCAD deficiency"^^xsd:string) AnnotationAssertion( "FOCAD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SCOLIV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005712"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Congenital Liver Disease"^^xsd:string) SubClassOf( ) # Class: (Ectopia Cordis) AnnotationAssertion(Annotation( "MESH:D054083"^^xsd:string) "A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical."^^xsd:string) AnnotationAssertion( "MESH:D054083"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005713"^^xsd:string) AnnotationAssertion(rdfs:label "Ectopia Cordis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:619580"^^xsd:string) "This disease is characterized by axial hypotonia and global developmental delay apparent in early infancy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T09:54:56Z"^^xsd:string) AnnotationAssertion( "MIM:619580"^^xsd:string) AnnotationAssertion( "NEDLAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005714"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neoplasms, Second Primary) AnnotationAssertion(Annotation( "MESH:D016609"^^xsd:string) "Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause."^^xsd:string) AnnotationAssertion( "MESH:D016609"^^xsd:string) AnnotationAssertion( "RDO:0006982"^^xsd:string) AnnotationAssertion( "Metachronous Neoplasm"^^xsd:string) AnnotationAssertion( "Metachronous Neoplasms"^^xsd:string) AnnotationAssertion( "Metachronous Second Primary Neoplasms"^^xsd:string) AnnotationAssertion( "Second Cancer"^^xsd:string) AnnotationAssertion( "Second Cancers"^^xsd:string) AnnotationAssertion( "Second Malignancies"^^xsd:string) AnnotationAssertion( "Second Malignancy"^^xsd:string) AnnotationAssertion( "Second Neoplasm"^^xsd:string) AnnotationAssertion( "Second Neoplasms"^^xsd:string) AnnotationAssertion( "Second Primary Cancer"^^xsd:string) AnnotationAssertion( "Second Primary Cancers"^^xsd:string) AnnotationAssertion( "Second Primary Neoplasm"^^xsd:string) AnnotationAssertion( "Therapy Associated Cancer"^^xsd:string) AnnotationAssertion( "Therapy Associated Neoplasms"^^xsd:string) AnnotationAssertion( "Therapy Related Cancer"^^xsd:string) AnnotationAssertion( "Therapy Related Neoplasms"^^xsd:string) AnnotationAssertion( "Therapy-Associated Cancers"^^xsd:string) AnnotationAssertion( "Therapy-Associated Neoplasm"^^xsd:string) AnnotationAssertion( "Therapy-Related Cancers"^^xsd:string) AnnotationAssertion( "Therapy-Related Neoplasm"^^xsd:string) AnnotationAssertion( "Treatment Associated Cancer"^^xsd:string) AnnotationAssertion( "Treatment Associated Neoplasms"^^xsd:string) AnnotationAssertion( "Treatment Related Cancer"^^xsd:string) AnnotationAssertion( "Treatment Related Neoplasms"^^xsd:string) AnnotationAssertion( "Treatment-Associated Cancers"^^xsd:string) AnnotationAssertion( "Treatment-Associated Neoplasm"^^xsd:string) AnnotationAssertion( "Treatment-Related Cancers"^^xsd:string) AnnotationAssertion( "Treatment-Related Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005715"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasms, Second Primary"^^xsd:string) SubClassOf( ) # Class: (Leiomyoma of Vulva and Esophagus) AnnotationAssertion( "MIM:150700"^^xsd:string) AnnotationAssertion( "MESH:C537006"^^xsd:string) AnnotationAssertion( "Esophagogastric and vulvar leiomyomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005716"^^xsd:string) AnnotationAssertion(rdfs:label "Leiomyoma of Vulva and Esophagus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Persistent Stuttering 1) AnnotationAssertion( "This disease is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks."^^xsd:string) AnnotationAssertion( "AP4E1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:184450"^^xsd:string) AnnotationAssertion( "STUT1"^^xsd:string) AnnotationAssertion( "STUTTERING, FAMILIAL PERSISTENT, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005717"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Persistent Stuttering 1"^^xsd:string) SubClassOf( ) # Class: (Hereditary Congenital Facial Paresis 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T09:55:21Z"^^xsd:string) AnnotationAssertion( "MIM:604185"^^xsd:string) AnnotationAssertion( "HCFP2"^^xsd:string) AnnotationAssertion( "MBS3"^^xsd:string) AnnotationAssertion( "MOBIUS SYNDROME 3"^^xsd:string) AnnotationAssertion( "MOEBIUS SYNDROME 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005718"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Congenital Facial Paresis 2"^^xsd:string) SubClassOf( ) # Class: (Aneurysmal Bone Cysts) AnnotationAssertion(Annotation( "MESH:D017824"^^xsd:string) "Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures."^^xsd:string) AnnotationAssertion( "MIM:606179"^^xsd:string) AnnotationAssertion( "EFO:1001760"^^xsd:string) AnnotationAssertion( "GARD:8646"^^xsd:string) AnnotationAssertion( "HP:0012063"^^xsd:string) AnnotationAssertion( "MESH:D017824"^^xsd:string) AnnotationAssertion( "MONDO:0018815"^^xsd:string) AnnotationAssertion( "NCI:C3516"^^xsd:string) AnnotationAssertion( "ORDO:480553"^^xsd:string) AnnotationAssertion( "Aneurysmal Bone Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005719"^^xsd:string) AnnotationAssertion(rdfs:label "Aneurysmal Bone Cysts"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 119) AnnotationAssertion(Annotation( "MIM:619615"^^xsd:string) "Characterized by nonsyndromic mild to profound sensorineural hearing loss. Caused by compound heterozygous mutation in the SPATA5L1 gene on chromosome 15q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-18T13:31:26Z"^^xsd:string) AnnotationAssertion( "SPATA5L1-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619615"^^xsd:string) AnnotationAssertion( "DFNB119"^^xsd:string) AnnotationAssertion( "autosomal recessive deafness 119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005720"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 119"^^xsd:string) SubClassOf( ) # Class: (Preeclamptic Toxemia) AnnotationAssertion( "MESH:C538543"^^xsd:string) AnnotationAssertion( "EPH Toxemia"^^xsd:string) AnnotationAssertion( "EPH Toxemias"^^xsd:string) AnnotationAssertion( "Pregnancy Toxemia"^^xsd:string) AnnotationAssertion( "Pregnancy Toxemias"^^xsd:string) AnnotationAssertion( "Toxemia Of Pregnancies"^^xsd:string) AnnotationAssertion( "pre-eclamptic toxaemia"^^xsd:string) AnnotationAssertion( "toxaemia of pregnancy"^^xsd:string) AnnotationAssertion( "toxemia of pregnancy"^^xsd:string) AnnotationAssertion( "toxemic pregnancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005721"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclamptic Toxemia"^^xsd:string) SubClassOf( ) # Class: (SHORT STATURE, DAUBER-ARGENTE TYPE) AnnotationAssertion(Annotation( "MIM:619489"^^xsd:string) "This disease is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 due to impaired proteolysis of IGFBP3 and IGFBP5, resulting in reduced free IGF1."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-29T11:32:11Z"^^xsd:string) AnnotationAssertion( "MIM:619489"^^xsd:string) AnnotationAssertion( "SSDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005722"^^xsd:string) AnnotationAssertion(rdfs:label "SHORT STATURE, DAUBER-ARGENTE TYPE"^^xsd:string) SubClassOf( ) # Class: (Multibacillary Leprosy) AnnotationAssertion(Annotation( "MESH:D056006"^^xsd:string) "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with multibacillary leprosy have six or more lesions with or without positive skin smear results for the causative agent MYCOBACTERIUM LEPRAE. Multibacillary leprosy encompasses borderline lepromatous, midborderline, and lepromatous leprosy."^^xsd:string) AnnotationAssertion( "MESH:D056006"^^xsd:string) AnnotationAssertion( "Borderline Lepromatous"^^xsd:string) AnnotationAssertion( "Midborderline Lepromatous"^^xsd:string) AnnotationAssertion( "Multibacillary Leprosies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005723"^^xsd:string) AnnotationAssertion(rdfs:label "Multibacillary Leprosy"^^xsd:string) SubClassOf( ) # Class: (Fungal Lung Diseases) AnnotationAssertion(Annotation( "MESH:D008172"^^xsd:string) "Pulmonary diseases caused by fungal infections, usually through hematogenous spread."^^xsd:string) AnnotationAssertion( "EFO:0007278"^^xsd:string) AnnotationAssertion( "MESH:D008172"^^xsd:string) AnnotationAssertion( "Fungal Lung Disease"^^xsd:string) AnnotationAssertion( "Pulmonary Fungal Disease"^^xsd:string) AnnotationAssertion( "Pulmonary Fungal Diseases"^^xsd:string) AnnotationAssertion( "Pulmonary Fungal Infection"^^xsd:string) AnnotationAssertion( "Pulmonary Fungal Infections"^^xsd:string) AnnotationAssertion( "fungal lung infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005724"^^xsd:string) AnnotationAssertion(rdfs:label "Fungal Lung Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Iron Overload) AnnotationAssertion(Annotation( "MESH:D019190"^^xsd:string) "An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)"^^xsd:string) AnnotationAssertion( "MIM:620121"^^xsd:string) AnnotationAssertion( "MESH:D019190"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Iron overload, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9005725"^^xsd:string) AnnotationAssertion(rdfs:label "Iron Overload"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Multisystem Neurologic Disease with Osseous Fragility) AnnotationAssertion( "MIM:256720"^^xsd:string) AnnotationAssertion( "MESH:C564954"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005727"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Multisystem Neurologic Disease with Osseous Fragility"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000345"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005728"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Chronic Experimental Pancreatitis) AnnotationAssertion( "Prolonged inflammation of the pancreas induced experimentally in laboratory animals."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005729"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Experimental Pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amino Acid Transport Disorders, Inborn) AnnotationAssertion(Annotation( "MESH:D020157"^^xsd:string) "Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)"^^xsd:string) AnnotationAssertion( "MESH:D020157"^^xsd:string) AnnotationAssertion( "Inherited Amino Acid Transport Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005730"^^xsd:string) AnnotationAssertion(rdfs:label "Amino Acid Transport Disorders, Inborn"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Elliptocytosis 1) AnnotationAssertion( "MIM:611804"^^xsd:string) AnnotationAssertion( "MESH:C567520"^^xsd:string) AnnotationAssertion( "4.1- TRAIT"^^xsd:string) AnnotationAssertion( "4.1-Minus Trait"^^xsd:string) AnnotationAssertion( "EL1"^^xsd:string) AnnotationAssertion( "Elliptocytosis, Rhesus-Linked Type"^^xsd:string) AnnotationAssertion( "Protein 4.1 of Erythrocyte Membrane, Defect of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005732"^^xsd:string) AnnotationAssertion(rdfs:label "Elliptocytosis 1"^^xsd:string) SubClassOf( ) # Class: (Amelia and Terminal Transverse Hemimelia) AnnotationAssertion( "MIM:104400"^^xsd:string) AnnotationAssertion( "MESH:C566294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005733"^^xsd:string) AnnotationAssertion(rdfs:label "Amelia and Terminal Transverse Hemimelia"^^xsd:string) SubClassOf( ) # Class: (Abdominal Pain) AnnotationAssertion(Annotation( "MESH:D015746"^^xsd:string) "Sensation of discomfort, distress, or agony in the abdominal region."^^xsd:string) AnnotationAssertion( "EFO:0003766"^^xsd:string) AnnotationAssertion( "MESH:D015746"^^xsd:string) AnnotationAssertion( "RDO:0004684"^^xsd:string) AnnotationAssertion( "Abdominal Pains"^^xsd:string) AnnotationAssertion( "Colicky Pain"^^xsd:string) AnnotationAssertion( "Colicky Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005734"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Pain"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ulnar Hypoplasia with Lobster-Claw Deformity of Feet) AnnotationAssertion( "MIM:314360"^^xsd:string) AnnotationAssertion( "MESH:C536936"^^xsd:string) AnnotationAssertion( "Familial ulnar aplasia and lobster claw syndrome"^^xsd:string) AnnotationAssertion( "Severe ulnar aplasia and lobster claw feet"^^xsd:string) AnnotationAssertion( "van den Berghe Dequeker syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005735"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar Hypoplasia with Lobster-Claw Deformity of Feet"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pallor) AnnotationAssertion(Annotation( "MESH:D010167"^^xsd:string) "A clinical manifestation consisting of an unnatural paleness of the skin."^^xsd:string) AnnotationAssertion( "MESH:D010167"^^xsd:string) AnnotationAssertion( "Pallors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005736"^^xsd:string) AnnotationAssertion(rdfs:label "Pallor"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Major Depressive Disorder 2) AnnotationAssertion( "MESH:C563875"^^xsd:string) AnnotationAssertion( "MIM:608691"^^xsd:string) AnnotationAssertion( "MONDO:0012100"^^xsd:string) AnnotationAssertion( "MDD2"^^xsd:string) AnnotationAssertion( "Unipolar Depression 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005738"^^xsd:string) AnnotationAssertion(rdfs:label "Major Depressive Disorder 2"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness) AnnotationAssertion( "MIM:235740"^^xsd:string) AnnotationAssertion( "MESH:C565518"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005739"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pyruvate Dehydrogenase Phosphatase Deficiency) AnnotationAssertion( "MIM:608782"^^xsd:string) AnnotationAssertion( "MESH:C536258"^^xsd:string) AnnotationAssertion( "RDO:0001763"^^xsd:string) AnnotationAssertion( "Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency"^^xsd:string) AnnotationAssertion( "PDHPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005740"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Dehydrogenase Phosphatase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Intracranial Embolism and Thrombosis) AnnotationAssertion(Annotation( "MESH:D002542"^^xsd:string) "Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures."^^xsd:string) AnnotationAssertion( "MESH:D002542"^^xsd:string) AnnotationAssertion( "Brain Embolism and Thrombosis"^^xsd:string) AnnotationAssertion( "Cerebral Embolism and Thrombosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005741"^^xsd:string) AnnotationAssertion(rdfs:label "Intracranial Embolism and Thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocythemia, X-Linked) AnnotationAssertion( "MESH:C564532"^^xsd:string) AnnotationAssertion( "THCYTX"^^xsd:string) AnnotationAssertion( "X-linked thrombocytosis"^^xsd:string) AnnotationAssertion( "X-linked thrombocytosis, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005742"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocythemia, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Curly Hair-Acral Keratoderma-Caries Syndrome) AnnotationAssertion( "MIM:607656"^^xsd:string) AnnotationAssertion( "MESH:C536220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005743"^^xsd:string) AnnotationAssertion(rdfs:label "Curly Hair-Acral Keratoderma-Caries Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, X-Linked, Syp-Related) AnnotationAssertion( "MESH:C567584"^^xsd:string) AnnotationAssertion( "RDO:0015631"^^xsd:string) AnnotationAssertion( "MRXSYP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005744"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, X-Linked, Syp-Related"^^xsd:string) SubClassOf( ) # Class: (Stillbirth) AnnotationAssertion(Annotation( "MESH:D050497"^^xsd:string) "The event that a FETUS is born dead or stillborn."^^xsd:string) AnnotationAssertion( "MESH:D050497"^^xsd:string) AnnotationAssertion( "Stillbirths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005745"^^xsd:string) AnnotationAssertion(rdfs:label "Stillbirth"^^xsd:string) SubClassOf( ) # Class: (Colobomatous Macrophthalmia with Microcornea) AnnotationAssertion( "MIM:602499"^^xsd:string) AnnotationAssertion( "RDO:0014865"^^xsd:string) AnnotationAssertion( "MESH:C566533"^^xsd:string) AnnotationAssertion( "MACOM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005746"^^xsd:string) AnnotationAssertion(rdfs:label "Colobomatous Macrophthalmia with Microcornea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005747"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Necrosis) AnnotationAssertion(Annotation( "MESH:D009336"^^xsd:string) "The pathological process occurring in cells that are dying from irreparable injuries. It is caused by the progressive, uncontrolled action of degradative ENZYMES, leading to MITOCHONDRIAL SWELLING, nuclear flocculation, and cell lysis. It is distinct it from APOPTOSIS, which is a normal, regulated cellular process."^^xsd:string) AnnotationAssertion( "RDO:0005338"^^xsd:string) AnnotationAssertion( "EFO:0009426"^^xsd:string) AnnotationAssertion( "MESH:D009336"^^xsd:string) AnnotationAssertion( "Necroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005749"^^xsd:string) AnnotationAssertion(rdfs:label "Necrosis"^^xsd:string) SubClassOf( ) # Class: (Melorheostosis with Osteopoikilosis) AnnotationAssertion( "MESH:C563593"^^xsd:string) AnnotationAssertion( "RDO:0012814"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005750"^^xsd:string) AnnotationAssertion(rdfs:label "Melorheostosis with Osteopoikilosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 4) AnnotationAssertion( "MIM:608658"^^xsd:string) AnnotationAssertion( "MESH:C563882"^^xsd:string) AnnotationAssertion( "HPC4"^^xsd:string) AnnotationAssertion( "hereditary prostate cancer on chromosome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005751"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 4"^^xsd:string) SubClassOf( ) # Class: (Aortic Aneurysm, Familial Abdominal 2) AnnotationAssertion( "MIM:609782"^^xsd:string) AnnotationAssertion( "RDO:0009880"^^xsd:string) AnnotationAssertion( "MESH:C565229"^^xsd:string) AnnotationAssertion( "RDO:0013931"^^xsd:string) AnnotationAssertion( "AAA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005752"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Aneurysm, Familial Abdominal 2"^^xsd:string) SubClassOf( ) # Class: (Hallux Limitus) AnnotationAssertion(Annotation( "MESH:D020857"^^xsd:string) "A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in the dorsiflexion range of motion."^^xsd:string) AnnotationAssertion( "MESH:D020857"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005753"^^xsd:string) AnnotationAssertion(rdfs:label "Hallux Limitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypoalgesia) AnnotationAssertion( "A diminished perception of a painful stimulus to a degree that varies significantly from a normal perception of the same stimulus."^^xsd:string) AnnotationAssertion( "Hypalgesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005754"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoalgesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hamartomatous Lip) AnnotationAssertion( "MIM:151640"^^xsd:string) AnnotationAssertion( "MESH:C563621"^^xsd:string) AnnotationAssertion( "Enlargement of Lower Lip"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005755"^^xsd:string) AnnotationAssertion(rdfs:label "Hamartomatous Lip"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Herrmann Syndrome) AnnotationAssertion( "MIM:172500"^^xsd:string) AnnotationAssertion( "MESH:C538113"^^xsd:string) AnnotationAssertion( "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005756"^^xsd:string) AnnotationAssertion(rdfs:label "Herrmann Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metapneumovirus infections) AnnotationAssertion(Annotation( "MESH:D029121"^^xsd:string) "Infections with viruses of the genus Metapneumovirus, a genus of the subfamily PNEUMOVIRINAE that includes human Metapneumovirus and avian Metapneumovirus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-21T16:35:02Z"^^xsd:string) AnnotationAssertion( "MESH:D029121"^^xsd:string) AnnotationAssertion( "PMID:25953917"^^xsd:string) AnnotationAssertion( "Metapneumovirus infection"^^xsd:string) AnnotationAssertion( "HMPV infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005757"^^xsd:string) AnnotationAssertion(rdfs:label "Metapneumovirus infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Presbycusis 1) AnnotationAssertion( "MIM:612448"^^xsd:string) AnnotationAssertion( "MESH:C567305"^^xsd:string) AnnotationAssertion( "ARHI1"^^xsd:string) AnnotationAssertion( "Age-Related Hearing Impairment 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005760"^^xsd:string) AnnotationAssertion(rdfs:label "Presbycusis 1"^^xsd:string) SubClassOf( ) # Class: (Mismatch Repair Cancer Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-30T11:40:57Z"^^xsd:string) AnnotationAssertion( "MIM:619096"^^xsd:string) AnnotationAssertion( "MMRCS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005761"^^xsd:string) AnnotationAssertion(rdfs:label "Mismatch Repair Cancer Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Trigonocephaly 2) AnnotationAssertion( "MIM:614485"^^xsd:string) AnnotationAssertion( "TRIGNO2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005762"^^xsd:string) AnnotationAssertion(rdfs:label "Trigonocephaly 2"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Polyendocrine Syndrome Type 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-09T10:01:49Z"^^xsd:string) AnnotationAssertion( "APS III"^^xsd:string) AnnotationAssertion( "Autoimmune Polyglandular Syndrome Type III"^^xsd:string) AnnotationAssertion( "Autoimmune Polyglandular Syndrome, Type 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005763"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Polyendocrine Syndrome Type 3"^^xsd:string) SubClassOf( ) # Class: (Short QT Syndrome 1) AnnotationAssertion( "MIM:609620"^^xsd:string) AnnotationAssertion( "KCNH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KCNH2-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:C566506"^^xsd:string) AnnotationAssertion( "SHORT QT SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "SQT1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005764"^^xsd:string) AnnotationAssertion(rdfs:label "Short QT Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autoinflammation with Pulmonary and Cutaneous Vasculitis) AnnotationAssertion(Annotation( "MIM:620296"^^xsd:string) "A disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Caused by heterozygous mutation in the HCK gene on chromosome 20q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T09:04:39Z"^^xsd:string) AnnotationAssertion( "MIM:620296"^^xsd:string) AnnotationAssertion( "AIPCV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005765"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation with Pulmonary and Cutaneous Vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Scoliosis, Arachnodactyly, and Blindness) AnnotationAssertion( "MIM:612445"^^xsd:string) AnnotationAssertion( "MESH:C567309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005767"^^xsd:string) AnnotationAssertion(rdfs:label "Scoliosis, Arachnodactyly, and Blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thinness) AnnotationAssertion(Annotation( "MESH:D013851"^^xsd:string) "A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards. Depending on age, sex, and genetic background, a BODY MASS INDEX of less than 18.5 is considered as underweight."^^xsd:string) AnnotationAssertion( "MESH:D013851"^^xsd:string) AnnotationAssertion( "Leanness"^^xsd:string) AnnotationAssertion( "Underweight"^^xsd:string) AnnotationAssertion( "Leanness, inherited"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005768"^^xsd:string) AnnotationAssertion(rdfs:label "Thinness"^^xsd:string) SubClassOf( ) # Class: (Hypotonia, Seizures, and Precocious Puberty) AnnotationAssertion( "MIM:612777"^^xsd:string) AnnotationAssertion( "MESH:C567566"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005769"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotonia, Seizures, and Precocious Puberty"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oocyte Maturation Defect 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617712"^^xsd:string) AnnotationAssertion( "EMPTY FOLLICLE SYNDROME"^^xsd:string) AnnotationAssertion( "OOMD3"^^xsd:string) AnnotationAssertion( "OZEMA3"^^xsd:string) AnnotationAssertion( "Oocyte/zygote/embryo maturation arrest 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005770"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte Maturation Defect 3"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7) AnnotationAssertion(Annotation( "MIM:620365"^^xsd:string) "An autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Caused by heterozygous mutation in the NAF1 gene on chromosome 4q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-12T09:24:45Z"^^xsd:string) AnnotationAssertion( "MIM:620365"^^xsd:string) AnnotationAssertion( "NAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PFBMFT7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005771"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7"^^xsd:string) SubClassOf( ) # Class: (Chromosome 16, Trisomy) AnnotationAssertion( "MESH:C538041"^^xsd:string) AnnotationAssertion( "NCI:C125660"^^xsd:string) AnnotationAssertion( "NCI:C37866"^^xsd:string) AnnotationAssertion( "Mosaic trisomy 16"^^xsd:string) AnnotationAssertion( "Trisomy 16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005772"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 16, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Intestinal Polyposis, Osteomas, Sebaceous Cysts) AnnotationAssertion( "MESH:C535644"^^xsd:string) AnnotationAssertion( "RDO:0000878"^^xsd:string) AnnotationAssertion( "Polyposis coli and multiple hard and soft tissue tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005773"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Polyposis, Osteomas, Sebaceous Cysts"^^xsd:string) SubClassOf( ) # Class: (Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity) AnnotationAssertion( "MIM:609889"^^xsd:string) AnnotationAssertion( "MESH:C563691"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005774"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Perinatal Asphyxia) AnnotationAssertion( "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life at the fetal or neonatal stage."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "fetal anoxia"^^xsd:string) AnnotationAssertion( "intrauterine asphyxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005775"^^xsd:string) AnnotationAssertion(rdfs:label "Perinatal Asphyxia"^^xsd:string) SubClassOf( ) # Class: (Kyrle Disease) AnnotationAssertion( "MIM:149500"^^xsd:string) AnnotationAssertion( "MESH:C538130"^^xsd:string) AnnotationAssertion( "Hyperkeratosis follicularis et parafollicularis in cutem penetrans"^^xsd:string) AnnotationAssertion( "Kyrle's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005776"^^xsd:string) AnnotationAssertion(rdfs:label "Kyrle Disease"^^xsd:string) SubClassOf( ) # Class: (Nevus of Ota) AnnotationAssertion(Annotation( "MESH:D009507"^^xsd:string) "A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS."^^xsd:string) AnnotationAssertion( "EFO:1000396"^^xsd:string) AnnotationAssertion( "MESH:D009507"^^xsd:string) AnnotationAssertion( "RDO:0006218"^^xsd:string) AnnotationAssertion( "Ota Nevus"^^xsd:string) AnnotationAssertion( "Ota's Nevus"^^xsd:string) AnnotationAssertion( "Otas Nevus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005777"^^xsd:string) AnnotationAssertion(rdfs:label "Nevus of Ota"^^xsd:string) SubClassOf( ) # Class: (Annular Epidermolytic Ichthyosis) AnnotationAssertion( "A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. (Orphanet)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-06T08:15:37Z"^^xsd:string) AnnotationAssertion( "MESH:C564367"^^xsd:string) AnnotationAssertion( "MONDO:0011870"^^xsd:string) AnnotationAssertion( "AEI"^^xsd:string) AnnotationAssertion( "CIEHK"^^xsd:string) AnnotationAssertion( "annular epidermolytic ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005778"^^xsd:string) AnnotationAssertion(rdfs:label "Annular Epidermolytic Ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polyploidy) AnnotationAssertion(Annotation( "MESH:D011123"^^xsd:string) "The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc."^^xsd:string) AnnotationAssertion( "MESH:D011123"^^xsd:string) AnnotationAssertion( "Polyploid"^^xsd:string) AnnotationAssertion( "Polyploid Cell"^^xsd:string) AnnotationAssertion( "Polyploid Cells"^^xsd:string) AnnotationAssertion( "Polyploidies"^^xsd:string) AnnotationAssertion( "Polyploids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005779"^^xsd:string) AnnotationAssertion(rdfs:label "Polyploidy"^^xsd:string) SubClassOf( ) # Class: (Spongiform Encephalopathy with Neuropsychiatric Features) AnnotationAssertion( "MIM:606688"^^xsd:string) AnnotationAssertion( "MESH:C564678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005780"^^xsd:string) AnnotationAssertion(rdfs:label "Spongiform Encephalopathy with Neuropsychiatric Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adams-Oliver Syndrome 5) AnnotationAssertion( "A rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "NOTCH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NOTCH1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:616028"^^xsd:string) AnnotationAssertion( "AOS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005781"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Carotid Intimal Medial Thickness 1) AnnotationAssertion( "MIM:609338"^^xsd:string) AnnotationAssertion( "MESH:C563733"^^xsd:string) AnnotationAssertion( "RDO:0012917"^^xsd:string) AnnotationAssertion( "CIMT1"^^xsd:string) AnnotationAssertion( "Intimal Medial Thickness of Internal Carotid Artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005782"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Intimal Medial Thickness 1"^^xsd:string) SubClassOf( ) # Class: (Primary Basilar Impression) AnnotationAssertion( "MIM:109500"^^xsd:string) AnnotationAssertion( "MESH:C566226"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005783"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Basilar Impression"^^xsd:string) SubClassOf( ) # Class: (Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification) AnnotationAssertion( "MIM:182255"^^xsd:string) AnnotationAssertion( "MESH:C566687"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005784"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification"^^xsd:string) SubClassOf( ) # Class: (Altitude Sickness) AnnotationAssertion(Annotation( "MESH:D000532"^^xsd:string) "Multiple symptoms associated with reduced oxygen at high ALTITUDE."^^xsd:string) AnnotationAssertion( "MIM:616182"^^xsd:string) AnnotationAssertion( "EFO:0010143"^^xsd:string) AnnotationAssertion( "EFO:1000782"^^xsd:string) AnnotationAssertion( "MESH:D000532"^^xsd:string) AnnotationAssertion( "Altitude Hypoxia"^^xsd:string) AnnotationAssertion( "Altitude Hypoxias"^^xsd:string) AnnotationAssertion( "Monge's disease"^^xsd:string) AnnotationAssertion( "Mountain Sickness"^^xsd:string) AnnotationAssertion( "acute hypobaric hypoxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Chronic mountain sickness, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9005785"^^xsd:string) AnnotationAssertion(rdfs:label "Altitude Sickness"^^xsd:string) SubClassOf( ) # Class: (RHYNS Syndrome) AnnotationAssertion( "MIM:602152"^^xsd:string) AnnotationAssertion( "MESH:C537612"^^xsd:string) AnnotationAssertion( "RHYNS"^^xsd:string) AnnotationAssertion( "Retinitis pigmentosa syndrome"^^xsd:string) AnnotationAssertion( "Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005786"^^xsd:string) AnnotationAssertion(rdfs:label "RHYNS Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dimauro Disease) AnnotationAssertion( "MIM:261670"^^xsd:string) AnnotationAssertion( "MESH:C536176"^^xsd:string) AnnotationAssertion( "Deficiency Mutase Phosphoglycerate"^^xsd:string) AnnotationAssertion( "Glycogen Storage Disease X"^^xsd:string) AnnotationAssertion( "Gsd X"^^xsd:string) AnnotationAssertion( "Gsd10"^^xsd:string) AnnotationAssertion( "Human muscle phosphoglycerate mutase deficiency"^^xsd:string) AnnotationAssertion( "Myopathy due to phosphoglycerate mutase deficiency"^^xsd:string) AnnotationAssertion( "PGAMM deficiency"^^xsd:string) AnnotationAssertion( "Pgam Deficiency"^^xsd:string) AnnotationAssertion( "Phosphoglycerate Mutase, Muscle, Deficiency of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005787"^^xsd:string) AnnotationAssertion(rdfs:label "Dimauro Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypertrophic Cardiomyopathy 28) AnnotationAssertion( "Characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Caused by heterozygous mutation in the FHOD3 gene on chromosome 18q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-01T15:33:43Z"^^xsd:string) AnnotationAssertion( "MIM:619402"^^xsd:string) AnnotationAssertion( "CMH28"^^xsd:string) AnnotationAssertion( "FHOD3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005789"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophic Cardiomyopathy 28"^^xsd:string) SubClassOf( ) # Class: (Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type) AnnotationAssertion( "MIM:136630"^^xsd:string) AnnotationAssertion( "MESH:C566980"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY, FRA12A TYPE"^^xsd:string) AnnotationAssertion( "mental retardation, FRA12A type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005790"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Branchiootic Syndrome 2) AnnotationAssertion( "MIM:120502"^^xsd:string) AnnotationAssertion( "RDO:0013894"^^xsd:string) AnnotationAssertion( "MESH:C565171"^^xsd:string) AnnotationAssertion( "BO Syndrome 2"^^xsd:string) AnnotationAssertion( "BOS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005791"^^xsd:string) AnnotationAssertion(rdfs:label "Branchiootic Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9 Inversion or Duplication) AnnotationAssertion( "MESH:C538021"^^xsd:string) AnnotationAssertion( "RDO:0003955"^^xsd:string) AnnotationAssertion( "Trisomy 9 translocation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005792"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9 Inversion or Duplication"^^xsd:string) SubClassOf( ) # Class: (African Hemochromatosis) AnnotationAssertion( "MESH:C579887"^^xsd:string) AnnotationAssertion( "RDO:0015861"^^xsd:string) AnnotationAssertion( "African Siderosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005793"^^xsd:string) AnnotationAssertion(rdfs:label "African Hemochromatosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Schaefer Stein Oshman Syndrome) AnnotationAssertion( "MESH:C536627"^^xsd:string) AnnotationAssertion( "RDO:0002263"^^xsd:string) AnnotationAssertion( "Craniodiaphyseal dysplasia, dominant"^^xsd:string) AnnotationAssertion( "Dominantly inherited craniodiaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005795"^^xsd:string) AnnotationAssertion(rdfs:label "Schaefer Stein Oshman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudolymphoma) AnnotationAssertion(Annotation( "MESH:D019310"^^xsd:string) "A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001831"^^xsd:string) AnnotationAssertion( "MESH:D019310"^^xsd:string) AnnotationAssertion( "RDO:0007267"^^xsd:string) AnnotationAssertion( "Lymphocytoma"^^xsd:string) AnnotationAssertion( "Lymphocytomas"^^xsd:string) AnnotationAssertion( "Pseudolymphomas"^^xsd:string) AnnotationAssertion( "Reactive Lymphoid Hyperplasia"^^xsd:string) AnnotationAssertion( "Reactive Lymphoid Hyperplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005797"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudolymphoma"^^xsd:string) SubClassOf( ) # Class: (Jeune Syndrome Situs Inversus) AnnotationAssertion( "MESH:C537572"^^xsd:string) AnnotationAssertion( "RDO:0003436"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005798"^^xsd:string) AnnotationAssertion(rdfs:label "Jeune Syndrome Situs Inversus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8) AnnotationAssertion(Annotation( "MIM:620367"^^xsd:string) "An autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Caused by heterozygous mutation in the POT1 gene on chromosome 7q31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-12T09:22:56Z"^^xsd:string) AnnotationAssertion( "MIM:620367"^^xsd:string) AnnotationAssertion( "PFBMFT8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005799"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8"^^xsd:string) SubClassOf( ) # Class: (AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2) AnnotationAssertion(Annotation( "MIM:301074"^^xsd:string) "This disease is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-10T10:48:26Z"^^xsd:string) AnnotationAssertion( "MIM:301074"^^xsd:string) AnnotationAssertion( "AIFBL2"^^xsd:string) AnnotationAssertion( "DEFICIENCY IN ELF4, X-LINKED"^^xsd:string) AnnotationAssertion( "DEX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005800"^^xsd:string) AnnotationAssertion(rdfs:label "AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diets-Jongmans Syndrome) AnnotationAssertion( "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt. Caused by heterozygous mutation in the KDM3B gene on chromosome 5q31. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-19T15:00:45Z"^^xsd:string) AnnotationAssertion( "EFO:0010740"^^xsd:string) AnnotationAssertion( "MIM:618846"^^xsd:string) AnnotationAssertion( "DIJOS"^^xsd:string) AnnotationAssertion( "IDDFD"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005801"^^xsd:string) AnnotationAssertion(rdfs:label "Diets-Jongmans Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dennis Fairhurst Moore Syndrome) AnnotationAssertion( "MESH:C538210"^^xsd:string) AnnotationAssertion( "RDO:0004154"^^xsd:string) AnnotationAssertion( "Hallermam Streiff like syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005802"^^xsd:string) AnnotationAssertion(rdfs:label "Dennis Fairhurst Moore Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intranuclear Rod Myopathy) AnnotationAssertion( "MESH:C580202"^^xsd:string) AnnotationAssertion( "RDO:0015901"^^xsd:string) AnnotationAssertion( "Intranuclear Nemaline Rod Myopathy"^^xsd:string) AnnotationAssertion( "Nemaline Myopathy with Exclusively Intranuclear Rods"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005803"^^xsd:string) AnnotationAssertion(rdfs:label "Intranuclear Rod Myopathy"^^xsd:string) SubClassOf( ) # Class: (Vulvar Neoplasms) AnnotationAssertion(Annotation( "MESH:D014846"^^xsd:string) "Tumors or cancer of the VULVA."^^xsd:string) AnnotationAssertion( "MESH:D014846"^^xsd:string) AnnotationAssertion( "NCI:C3443"^^xsd:string) AnnotationAssertion( "neoplasm of vulva"^^xsd:string) AnnotationAssertion( "vulva neoplasm"^^xsd:string) AnnotationAssertion( "vulva neoplasms"^^xsd:string) AnnotationAssertion( "vulval neoplasm"^^xsd:string) AnnotationAssertion( "vulvar neoplasm"^^xsd:string) AnnotationAssertion( "vulvar tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005804"^^xsd:string) AnnotationAssertion(rdfs:label "Vulvar Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia 5) AnnotationAssertion( "An autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. (OMIM)"^^xsd:string) AnnotationAssertion( "ETV6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616216"^^xsd:string) AnnotationAssertion( "THC5"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005805"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 5"^^xsd:string) SubClassOf( ) # Class: (Nasopalpebral Lipoma Coloboma Syndrome) AnnotationAssertion( "MIM:167730"^^xsd:string) AnnotationAssertion( "MESH:C538338"^^xsd:string) AnnotationAssertion( "Palpebral coloboma lipoma Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005806"^^xsd:string) AnnotationAssertion(rdfs:label "Nasopalpebral Lipoma Coloboma Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Veterinary Venereal Tumors) AnnotationAssertion(Annotation( "MESH:D014685"^^xsd:string) "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur."^^xsd:string) AnnotationAssertion( "MESH:D014685"^^xsd:string) AnnotationAssertion( "NCI:C162473"^^xsd:string) AnnotationAssertion( "Transmissible Venereal Tumor"^^xsd:string) AnnotationAssertion( "Transmissible Venereal Tumors"^^xsd:string) AnnotationAssertion( "Veterinary Venereal Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005807"^^xsd:string) AnnotationAssertion(rdfs:label "Veterinary Venereal Tumors"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis 3, Autosomal Recessive) AnnotationAssertion( "MESH:C537758"^^xsd:string) AnnotationAssertion( "MESH:C566428"^^xsd:string) AnnotationAssertion( "distal RTA, autosomal recessive"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis, recessive"^^xsd:string) AnnotationAssertion( "MIM:602722"^^xsd:string) AnnotationAssertion( "DRTA3"^^xsd:string) AnnotationAssertion( "RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "RTADR"^^xsd:string) AnnotationAssertion( "autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "autosomal recessive renal tubular acidosis with preserved hearing"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis, autosomal recessive, with late-onset sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005808"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis 3, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thyroid Nodule) AnnotationAssertion(Annotation( "MESH:D016606"^^xsd:string) "A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)."^^xsd:string) AnnotationAssertion( "EFO:1001436"^^xsd:string) AnnotationAssertion( "MESH:D016606"^^xsd:string) AnnotationAssertion( "Thyroid Nodules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005809"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Nodule"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 59) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-23T12:51:25Z"^^xsd:string) AnnotationAssertion( "MIM:618522"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Mental Retardation 59"^^xsd:string) AnnotationAssertion( "MRD59"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 59"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005810"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 59"^^xsd:string) SubClassOf( ) # Class: (HUPRA Syndrome) AnnotationAssertion( "This disease is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely."^^xsd:string) AnnotationAssertion( "MIM:613845"^^xsd:string) AnnotationAssertion( "HUPRAS"^^xsd:string) AnnotationAssertion( "HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS"^^xsd:string) AnnotationAssertion( "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005811"^^xsd:string) AnnotationAssertion(rdfs:label "HUPRA Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aplastic Anemia, Idiopathic) AnnotationAssertion( "MESH:C538494"^^xsd:string) AnnotationAssertion( "RDO:0004447"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005812"^^xsd:string) AnnotationAssertion(rdfs:label "Aplastic Anemia, Idiopathic"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619575"^^xsd:string) "This disease is an autosomal dominant disorder with a nonspecific phenotype of developmental delay with other possible features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-12-09T15:49:29Z"^^xsd:string) AnnotationAssertion( "MIM:619575"^^xsd:string) AnnotationAssertion( "DDIB"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005813"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prader-Willi Habitus, Osteopenia, and Camptodactyly) AnnotationAssertion( "MIM:264010"^^xsd:string) AnnotationAssertion( "MESH:C538276"^^xsd:string) AnnotationAssertion( "Urban Rogers Meyer syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005814"^^xsd:string) AnnotationAssertion(rdfs:label "Prader-Willi Habitus, Osteopenia, and Camptodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive) AnnotationAssertion( "MESH:C564926"^^xsd:string) AnnotationAssertion( "Progressive External Ophthalmoplegia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005815"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS) AnnotationAssertion(Annotation( "MIM:619373"^^xsd:string) "This disease is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-11T15:59:09Z"^^xsd:string) AnnotationAssertion( "MIM:619373"^^xsd:string) AnnotationAssertion( "NEDIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005816"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Czech Dysplasia, Metatarsal Type) AnnotationAssertion( "MIM:609162"^^xsd:string) AnnotationAssertion( "MESH:C535766"^^xsd:string) AnnotationAssertion( "Czech dysplasia"^^xsd:string) AnnotationAssertion( "OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes"^^xsd:string) AnnotationAssertion( "Spondyloarthropathy with Short Third and Fourth Toes"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia with precocious osteoarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005817"^^xsd:string) AnnotationAssertion(rdfs:label "Czech Dysplasia, Metatarsal Type"^^xsd:string) SubClassOf( ) # Class: (Serum Sickness) AnnotationAssertion(Annotation( "MESH:D012713"^^xsd:string) "Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses."^^xsd:string) AnnotationAssertion( "MESH:D012713"^^xsd:string) AnnotationAssertion( "RDO:0006553"^^xsd:string) AnnotationAssertion( "Serum Sicknesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005818"^^xsd:string) AnnotationAssertion(rdfs:label "Serum Sickness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Hemorrhagic Telangiectasia, Type 2) AnnotationAssertion( "MIM:600376"^^xsd:string) AnnotationAssertion( "MESH:C537139"^^xsd:string) AnnotationAssertion( "HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED,"^^xsd:string) AnnotationAssertion( "Osler-Rendu-Weber Syndrome 2"^^xsd:string) AnnotationAssertion( "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II"^^xsd:string) AnnotationAssertion( "Haemorrhagic telangiectasia 2"^^xsd:string) AnnotationAssertion( "LIP TELANGIECTASIA"^^xsd:string) AnnotationAssertion( "ORAL CAVITY TELANGIECTASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005819"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Hemorrhagic Telangiectasia, Type 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Myopathy with Excess of Muscle Spindles) AnnotationAssertion( "RDO:0015110"^^xsd:string) AnnotationAssertion( "MESH:C566896"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005820"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myopathy with Excess of Muscle Spindles"^^xsd:string) SubClassOf( ) # Class: (Intestinal Lymphangiectasis) AnnotationAssertion(Annotation( "MESH:D008201"^^xsd:string) "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES."^^xsd:string) AnnotationAssertion( "MIM:152800"^^xsd:string) AnnotationAssertion( "MESH:D008201"^^xsd:string) AnnotationAssertion( "intestinal lymphangiectases"^^xsd:string) AnnotationAssertion( "intestinal lymphangiectasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005821"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Lymphangiectasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS) AnnotationAssertion(Annotation( "MIM:618476"^^xsd:string) "An autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-05T12:02:08Z"^^xsd:string) AnnotationAssertion( "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "CSF1R-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0010268"^^xsd:string) AnnotationAssertion( "MIM:618476"^^xsd:string) AnnotationAssertion( "BANDDOS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005822"^^xsd:string) AnnotationAssertion(rdfs:label "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lymphedema, Cardiac Septal Defects, and Characteristic Facies) AnnotationAssertion( "DOID:9002392"^^xsd:string) AnnotationAssertion( "GARD:284"^^xsd:string) AnnotationAssertion( "MESH:C535539"^^xsd:string) AnnotationAssertion( "MESH:C567398"^^xsd:string) AnnotationAssertion( "MIM:601927"^^xsd:string) AnnotationAssertion( "MONDO:0011166"^^xsd:string) AnnotationAssertion( "ORDO:86915"^^xsd:string) AnnotationAssertion( "Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes"^^xsd:string) AnnotationAssertion( "Irons-Bhan Syndrome"^^xsd:string) AnnotationAssertion( "Irons-Bianchi syndrome"^^xsd:string) AnnotationAssertion( "Lymphedema, atrial septal defect, and characteristic facial changes"^^xsd:string) AnnotationAssertion( "lymphedema, atrial septal defect, and characteristic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005823"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphedema, Cardiac Septal Defects, and Characteristic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction) AnnotationAssertion( "RDO:0013383"^^xsd:string) AnnotationAssertion( "MESH:C564408"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE"^^xsd:string) AnnotationAssertion( "DOID:9005824"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nevi and Melanomas) AnnotationAssertion(Annotation( "MESH:D018326"^^xsd:string) "A collective term for the various types of nevi and melanomas."^^xsd:string) AnnotationAssertion( "MESH:D018326"^^xsd:string) AnnotationAssertion( "RDO:0006092"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005825"^^xsd:string) AnnotationAssertion(rdfs:label "Nevi and Melanomas"^^xsd:string) SubClassOf( ) # Class: (Congenital Cataracts, Facial Dysmorphism, and Neuropathy) AnnotationAssertion( "MIM:604168"^^xsd:string) AnnotationAssertion( "MESH:C565822"^^xsd:string) AnnotationAssertion( "CCFDN"^^xsd:string) AnnotationAssertion( "Congenital cataract with facial dysmorphism and neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005826"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Cataracts, Facial Dysmorphism, and Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spontaneous Fractures) AnnotationAssertion(Annotation( "MESH:D005598"^^xsd:string) "Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D005598"^^xsd:string) AnnotationAssertion( "Pathologic Fracture"^^xsd:string) AnnotationAssertion( "Pathologic Fractures"^^xsd:string) AnnotationAssertion( "Pathological Fracture"^^xsd:string) AnnotationAssertion( "Pathological Fractures"^^xsd:string) AnnotationAssertion( "Spontaneous Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005827"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Fractures"^^xsd:string) SubClassOf( ) # Class: (Sickle Cell Trait) AnnotationAssertion(Annotation( "MESH:D012805"^^xsd:string) "The condition of being heterozygous for hemoglobin S."^^xsd:string) AnnotationAssertion( "MESH:D012805"^^xsd:string) AnnotationAssertion( "Sickle Cell Traits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN D (IBADAN)"^^xsd:string) AnnotationAssertion( "DOID:9005828"^^xsd:string) AnnotationAssertion(rdfs:label "Sickle Cell Trait"^^xsd:string) SubClassOf( ) # Class: (Pseudopyogenic Granuloma) AnnotationAssertion( "Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-19T16:00:08Z"^^xsd:string) AnnotationAssertion( "MESH:D000796"^^xsd:string) AnnotationAssertion( "angiolymphoid hyperplasia with eosinophilia"^^xsd:string) AnnotationAssertion( "pseudopyogenic granulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005829"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudopyogenic Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyaloideoretinal Degeneration of Wagner) AnnotationAssertion( "MIM:143200"^^xsd:string) AnnotationAssertion( "MESH:C536075"^^xsd:string) AnnotationAssertion( "RDO:0001499"^^xsd:string) AnnotationAssertion( "ERVR"^^xsd:string) AnnotationAssertion( "Erosive vitreoretinopathy"^^xsd:string) AnnotationAssertion( "VCAN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Vcan-Related Vitreoretinopathy"^^xsd:string) AnnotationAssertion( "WAGNER VITREORETINOPATHY"^^xsd:string) AnnotationAssertion( "WGN1"^^xsd:string) AnnotationAssertion( "WGVRP"^^xsd:string) AnnotationAssertion( "Wagner Disease"^^xsd:string) AnnotationAssertion( "Wagner Syndrome"^^xsd:string) AnnotationAssertion( "Wagner Syndrome 1"^^xsd:string) AnnotationAssertion( "Wagner syndrome type 1"^^xsd:string) AnnotationAssertion( "Wagner vitreoretinal degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005830"^^xsd:string) AnnotationAssertion(rdfs:label "Hyaloideoretinal Degeneration of Wagner"^^xsd:string) SubClassOf( ) # Class: (Coronal Synostosis, Syndactyly and Jejunal Atresia) AnnotationAssertion( "MESH:C536445"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005831"^^xsd:string) AnnotationAssertion(rdfs:label "Coronal Synostosis, Syndactyly and Jejunal Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amyloid Plaques) AnnotationAssertion(Annotation( "MESH:D058225"^^xsd:string) "Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues."^^xsd:string) AnnotationAssertion( "MIM:269800"^^xsd:string) AnnotationAssertion( "MESH:D058225"^^xsd:string) AnnotationAssertion( "Amyloid Deposit"^^xsd:string) AnnotationAssertion( "Neuritic Plaque"^^xsd:string) AnnotationAssertion( "Neuritic Plaques"^^xsd:string) AnnotationAssertion( "Senile Plaque"^^xsd:string) AnnotationAssertion( "amyloid deposits"^^xsd:string) AnnotationAssertion( "amyloid plaque"^^xsd:string) AnnotationAssertion( "senile plaques"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005832"^^xsd:string) AnnotationAssertion(rdfs:label "Amyloid Plaques"^^xsd:string) SubClassOf( ) # Class: (Aberrant Subclavian Artery) AnnotationAssertion( "MESH:C535555"^^xsd:string) AnnotationAssertion( "Aberrant left subclavian artery"^^xsd:string) AnnotationAssertion( "Aberrant right subclavian artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005833"^^xsd:string) AnnotationAssertion(rdfs:label "Aberrant Subclavian Artery"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ependymomas) AnnotationAssertion(Annotation( "MESH:D004806"^^xsd:string) "Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)"^^xsd:string) AnnotationAssertion( "EFO:1000027"^^xsd:string) AnnotationAssertion( "EFO:1000028"^^xsd:string) AnnotationAssertion( "MESH:D004806"^^xsd:string) AnnotationAssertion( "NCI:C21951"^^xsd:string) AnnotationAssertion( "ependymal neoplasm"^^xsd:string) AnnotationAssertion( "ependymal tumor"^^xsd:string) AnnotationAssertion( "ependymoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005834"^^xsd:string) AnnotationAssertion(rdfs:label "Ependymomas"^^xsd:string) SubClassOf( ) # Class: (Congenital Abnormalities) AnnotationAssertion(Annotation( "MESH:D000013"^^xsd:string) "Malformations of organs or body parts during development in utero."^^xsd:string) AnnotationAssertion( "EFO:0003915"^^xsd:string) AnnotationAssertion( "MESH:D000013"^^xsd:string) AnnotationAssertion( "Birth Defect"^^xsd:string) AnnotationAssertion( "Birth Defects"^^xsd:string) AnnotationAssertion( "Congenital Abnormality"^^xsd:string) AnnotationAssertion( "Congenital Defect"^^xsd:string) AnnotationAssertion( "Congenital Defects"^^xsd:string) AnnotationAssertion( "Deformities"^^xsd:string) AnnotationAssertion( "Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005835"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Central Areolar Choroidal Dystrophy 2) AnnotationAssertion( "MIM:613105"^^xsd:string) AnnotationAssertion( "MESH:C567750"^^xsd:string) AnnotationAssertion( "CACD2"^^xsd:string) AnnotationAssertion( "progressive macular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005836"^^xsd:string) AnnotationAssertion(rdfs:label "Central Areolar Choroidal Dystrophy 2"^^xsd:string) SubClassOf( ) # Class: (Cholangiofibrosis) AnnotationAssertion( "Any pathological condition where fibrous connective tissue invades the bile duct, usually as a consequence of inflammation or other injury."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-10-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000784"^^xsd:string) AnnotationAssertion( "biliary duct fibrosis"^^xsd:string) AnnotationAssertion( "biliary sclerosis"^^xsd:string) AnnotationAssertion( "fibrosis of bile duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005837"^^xsd:string) AnnotationAssertion(rdfs:label "Cholangiofibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 11) AnnotationAssertion( "MIM:617349"^^xsd:string) AnnotationAssertion( "AAT11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9005838"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 11"^^xsd:string) SubClassOf( ) # Class: (Hypoplastic Left Heart Syndrome 2) AnnotationAssertion( "MIM:614435"^^xsd:string) AnnotationAssertion( "HLHS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005839"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoplastic Left Heart Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive) AnnotationAssertion( "MIM:248000"^^xsd:string) AnnotationAssertion( "MGCPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005840"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Epidermal Cyst) AnnotationAssertion(Annotation( "MESH:D004814"^^xsd:string) "Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules."^^xsd:string) AnnotationAssertion( "MIM:131600"^^xsd:string) AnnotationAssertion( "EFO:1000243"^^xsd:string) AnnotationAssertion( "MESH:D004814"^^xsd:string) AnnotationAssertion( "EIC"^^xsd:string) AnnotationAssertion( "Epidermal inclusion cyst"^^xsd:string) AnnotationAssertion( "epidermal cysts"^^xsd:string) AnnotationAssertion( "epidermoid cyst"^^xsd:string) AnnotationAssertion( "epidermoid cysts"^^xsd:string) AnnotationAssertion( "sebaceous cyst"^^xsd:string) AnnotationAssertion( "sebaceous cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005841"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermal Cyst"^^xsd:string) SubClassOf( ) # Class: (Langer Mesomelic Dysplasia) AnnotationAssertion( "MIM:249700"^^xsd:string) AnnotationAssertion( "MESH:C537267"^^xsd:string) AnnotationAssertion( "NCI:C126876"^^xsd:string) AnnotationAssertion( "Dyschondrosteosis Homozygous"^^xsd:string) AnnotationAssertion( "LANGER MESOMELIC DYSPLASIA SYNDROME"^^xsd:string) AnnotationAssertion( "LMD"^^xsd:string) AnnotationAssertion( "Langer Mesomelic Dwarfism"^^xsd:string) AnnotationAssertion( "Langer mesomelic dyspalsia"^^xsd:string) AnnotationAssertion( "Langer type of mesomelic dwarfism"^^xsd:string) AnnotationAssertion( "Mesomelic dwarfism Langer type"^^xsd:string) AnnotationAssertion( "Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005842"^^xsd:string) AnnotationAssertion(rdfs:label "Langer Mesomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Spastic Paralysis, Infantile Onset Ascending) AnnotationAssertion( "MIM:607225"^^xsd:string) AnnotationAssertion( "MESH:C537217"^^xsd:string) AnnotationAssertion( "Iahsp"^^xsd:string) AnnotationAssertion( "Spastic Paralysis, Infantile Onset Ascending"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005843"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Spastic Paralysis, Infantile Onset Ascending"^^xsd:string) SubClassOf( ) # Class: (Tooth Fractures) AnnotationAssertion(Annotation( "MESH:D014082"^^xsd:string) "Break or rupture of a tooth or tooth root."^^xsd:string) AnnotationAssertion( "MESH:D014082"^^xsd:string) AnnotationAssertion( "Tooth Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005844"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Fractures"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28) AnnotationAssertion(Annotation( "MIM:620375"^^xsd:string) "This disease is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase, elevated fasting blood glucose levels, and normal cholesterol levels."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-07-18T12:46:21Z"^^xsd:string) AnnotationAssertion( "MIM:620375"^^xsd:string) AnnotationAssertion( "LGMDR28"^^xsd:string) AnnotationAssertion( "MYOPATHY, LIMB-GIRDLE, ADULT-ONSET"^^xsd:string) AnnotationAssertion( "MYPLG"^^xsd:string) AnnotationAssertion( "autosomal recessive limb-girdle muscular dystrophy-28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005846"^^xsd:string) AnnotationAssertion(rdfs:label "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28"^^xsd:string) SubClassOf( ) # Class: (Passive-Aggressive Personality Disorder) AnnotationAssertion(Annotation( "MESH:D010324"^^xsd:string) "A personality disorder characterized by an indirect resistance to demands for adequate social and occupational performance; anger and opposition to authority and the expectations of others that is expressed covertly by obstructionism, procrastination, stubbornness, dawdling, forgetfulness, and intentional inefficiency. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D010324"^^xsd:string) AnnotationAssertion( "Negativistic Personality Disorder"^^xsd:string) AnnotationAssertion( "Negativistic Personality Disorders"^^xsd:string) AnnotationAssertion( "Passive Aggressive Personality"^^xsd:string) AnnotationAssertion( "Passive Aggressive Personality Disorders"^^xsd:string) AnnotationAssertion( "Passive-Aggressive Personalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005847"^^xsd:string) AnnotationAssertion(rdfs:label "Passive-Aggressive Personality Disorder"^^xsd:string) SubClassOf( ) # Class: (WEISS-KRUSZKA SYNDROME) AnnotationAssertion(Annotation( "MIM:618619"^^xsd:string) "An autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-11-14T15:37:36Z"^^xsd:string) AnnotationAssertion( "EFO:0010635"^^xsd:string) AnnotationAssertion( "MIM:618619"^^xsd:string) AnnotationAssertion( "METOPIC RIDGING-PTOSIS-FACIAL DYSMORPHISM SYNDROME"^^xsd:string) AnnotationAssertion( "WSKA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005848"^^xsd:string) AnnotationAssertion(rdfs:label "WEISS-KRUSZKA SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radiation Sensitivity of Natural Killer Activity) AnnotationAssertion( "MIM:312210"^^xsd:string) AnnotationAssertion( "MESH:C564066"^^xsd:string) AnnotationAssertion( "X-Ray NK Sensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005849"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Sensitivity of Natural Killer Activity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Optic Atrophies) AnnotationAssertion(Annotation( "MESH:D015418"^^xsd:string) "Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER)."^^xsd:string) AnnotationAssertion( "RDO:0000541"^^xsd:string) AnnotationAssertion( "MESH:D015418"^^xsd:string) AnnotationAssertion( "NCI:C34864"^^xsd:string) AnnotationAssertion( "Hereditary Optic Atrophy"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE OPTIC ATROPHY"^^xsd:string) AnnotationAssertion( "OPTIC ATROPHY, RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005850"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Optic Atrophies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46, XX Disorders of Sex Development) AnnotationAssertion(Annotation( "MESH:D058489"^^xsd:string) "Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical."^^xsd:string) AnnotationAssertion( "MESH:D058489"^^xsd:string) AnnotationAssertion( "46,XX DISORDER OF SEX DEVELOPMENT"^^xsd:string) AnnotationAssertion( "46,XX DSD"^^xsd:string) AnnotationAssertion( "female pseudohermaphroditism"^^xsd:string) AnnotationAssertion( "female pseudohermaphroditisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005851"^^xsd:string) AnnotationAssertion(rdfs:label "46, XX Disorders of Sex Development"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia with Dysmorphism) AnnotationAssertion( "MIM:271270"^^xsd:string) AnnotationAssertion( "MESH:C564802"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005852"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia with Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Surfactant Metabolism Dysfunction 4) AnnotationAssertion( "MIM:300770"^^xsd:string) AnnotationAssertion( "MESH:C567461"^^xsd:string) AnnotationAssertion( "CSF2RA Deficiency"^^xsd:string) AnnotationAssertion( "PAP due to CSF2RA Deficiency"^^xsd:string) AnnotationAssertion( "SMDP4"^^xsd:string) AnnotationAssertion( "congenital pulmonary alveolar proteinosis 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005853"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Surfactant Metabolism Dysfunction 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Factor XIII, A Subunit, Deficiency Of) AnnotationAssertion( "An autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing."^^xsd:string) AnnotationAssertion( "MIM:613225"^^xsd:string) AnnotationAssertion( "MESH:C567691"^^xsd:string) AnnotationAssertion( "FACTOR XIII SUBUNIT A DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005854"^^xsd:string) AnnotationAssertion(rdfs:label "Factor XIII, A Subunit, Deficiency Of"^^xsd:string) SubClassOf( ) # Class: (Microcephalic Primordial Dwarfism Toriello Type) AnnotationAssertion( "MIM:251190"^^xsd:string) AnnotationAssertion( "MESH:C537321"^^xsd:string) AnnotationAssertion( "Microcephalic primordial dwarfism and cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005855"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephalic Primordial Dwarfism Toriello Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Basaran Yilmaz Syndrome) AnnotationAssertion( "MESH:C537660"^^xsd:string) AnnotationAssertion( "MONDO:0021979"^^xsd:string) AnnotationAssertion( "Keratoderma, hypotrichosis and leukonychia totalis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005856"^^xsd:string) AnnotationAssertion(rdfs:label "Basaran Yilmaz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 8) AnnotationAssertion( "MIM:602759"^^xsd:string) AnnotationAssertion( "predisposing for prostate cancer"^^xsd:string) AnnotationAssertion( "MESH:C566426"^^xsd:string) AnnotationAssertion( "HPC8"^^xsd:string) AnnotationAssertion( "PCAP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005857"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 8"^^xsd:string) SubClassOf( ) # Class: (Periodontal Atrophy) AnnotationAssertion(Annotation( "MESH:D055093"^^xsd:string) "Degradation or wasting of the PERIODONTIUM tissues that may involve the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, or the PERIODONTAL LIGAMENT."^^xsd:string) AnnotationAssertion( "MESH:D055093"^^xsd:string) AnnotationAssertion( "Atrophy of Periodontium"^^xsd:string) AnnotationAssertion( "Gingivo Osseous Atrophy"^^xsd:string) AnnotationAssertion( "Gingivo-Osseous Atrophies"^^xsd:string) AnnotationAssertion( "Periodontal Atrophies"^^xsd:string) AnnotationAssertion( "Periodontium Atrophies"^^xsd:string) AnnotationAssertion( "Periodontium Atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005858"^^xsd:string) AnnotationAssertion(rdfs:label "Periodontal Atrophy"^^xsd:string) SubClassOf( ) # Class: (Reese Retinal Dysplasia) AnnotationAssertion( "MIM:266400"^^xsd:string) AnnotationAssertion( "MESH:C564854"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005859"^^xsd:string) AnnotationAssertion(rdfs:label "Reese Retinal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Hematologic Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D011250"^^xsd:string) "The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS."^^xsd:string) AnnotationAssertion( "MESH:D011250"^^xsd:string) AnnotationAssertion( "Hematologic Pregnancy Complication"^^xsd:string) AnnotationAssertion( "Hematological Pregnancy Complication"^^xsd:string) AnnotationAssertion( "Hematological Pregnancy Complications"^^xsd:string) AnnotationAssertion( "Pregnancies, Hematologic Complications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005860"^^xsd:string) AnnotationAssertion(rdfs:label "Hematologic Pregnancy Complications"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Achard-Thiers Syndrome) AnnotationAssertion( "MESH:C536013"^^xsd:string) AnnotationAssertion( "Adenoma associated virilism of older women"^^xsd:string) AnnotationAssertion( "Bearded female with diabetes"^^xsd:string) AnnotationAssertion( "Diabetes in bearded women"^^xsd:string) AnnotationAssertion( "Diabetic-bearded woman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005861"^^xsd:string) AnnotationAssertion(rdfs:label "Achard-Thiers Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isochromosomes) AnnotationAssertion(Annotation( "MESH:D018404"^^xsd:string) "Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion."^^xsd:string) AnnotationAssertion( "MESH:D018404"^^xsd:string) AnnotationAssertion( "RDO:0007195"^^xsd:string) AnnotationAssertion( "Isochromosome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005862"^^xsd:string) AnnotationAssertion(rdfs:label "Isochromosomes"^^xsd:string) SubClassOf( ) # Class: (Methylmalonic Aciduria and Homocystinuria, cblJ Type) AnnotationAssertion( "MIM:614857"^^xsd:string) AnnotationAssertion( "NCI:C183526"^^xsd:string) AnnotationAssertion( "MAHCJ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005863"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonic Aciduria and Homocystinuria, cblJ Type"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 61) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-03T08:54:15Z"^^xsd:string) AnnotationAssertion( "MIM:618009"^^xsd:string) AnnotationAssertion( "MRD61"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 61"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder 61"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005864"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 61"^^xsd:string) SubClassOf( ) # Class: (Intervertebral Disc Disease, Type I) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:000157"^^xsd:string) AnnotationAssertion( "type I IVDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005865"^^xsd:string) AnnotationAssertion(rdfs:label "Intervertebral Disc Disease, Type I"^^xsd:string) SubClassOf( ) # Class: (Spinal Subdural Hematoma) AnnotationAssertion(Annotation( "MESH:D046649"^^xsd:string) "Subdural hematoma of the SPINAL CANAL."^^xsd:string) AnnotationAssertion( "EFO:1001847"^^xsd:string) AnnotationAssertion( "MESH:D046649"^^xsd:string) AnnotationAssertion( "spinal subdural hematomas"^^xsd:string) AnnotationAssertion( "traumatic spinal subdural hematoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005866"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Subdural Hematoma"^^xsd:string) SubClassOf( ) # Class: (X-Linked Intellectual Developmental Disorders) AnnotationAssertion(Annotation( "MESH:D038901"^^xsd:string) "A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS)."^^xsd:string) AnnotationAssertion( "MESH:D038901"^^xsd:string) AnnotationAssertion( "X Linked Mental Retardation Syndromes"^^xsd:string) AnnotationAssertion( "X-Linked Intellectual Developmental Disorder"^^xsd:string) AnnotationAssertion( "X-Linked Mental Retardation"^^xsd:string) AnnotationAssertion( "X-Linked Mental Retardation Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005867"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Intellectual Developmental Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Duplication 4p Syndrome) AnnotationAssertion( "MESH:C537643"^^xsd:string) AnnotationAssertion( "RDO:0003519"^^xsd:string) AnnotationAssertion( "Chromosome 4, Partial Trisomy 4p"^^xsd:string) AnnotationAssertion( "Chromosome 4, Trisomy 4p"^^xsd:string) AnnotationAssertion( "Duplication 4p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005868"^^xsd:string) AnnotationAssertion(rdfs:label "Duplication 4p Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nephrotic Syndrome Type 26) AnnotationAssertion(Annotation( "MIM:620049"^^xsd:string) "An autosomal recessive renal disorder characterized by onset of proteinuria in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-09-27T09:43:06Z"^^xsd:string) AnnotationAssertion( "LAMA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620049"^^xsd:string) AnnotationAssertion( "NPHS26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005870"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrotic Syndrome Type 26"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia, Cyclic) AnnotationAssertion( "MIM:188020"^^xsd:string) AnnotationAssertion( "MESH:C536899"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005871"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia, Cyclic"^^xsd:string) SubClassOf( ) # Class: (Dystelephalangy) AnnotationAssertion( "MIM:128000"^^xsd:string) AnnotationAssertion( "MESH:C538000"^^xsd:string) AnnotationAssertion( "Kirner deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005872"^^xsd:string) AnnotationAssertion(rdfs:label "Dystelephalangy"^^xsd:string) SubClassOf( ) # Class: (Tongue Neoplasms) AnnotationAssertion( "Tumors or cancer of the TONGUE."^^xsd:string) AnnotationAssertion( "DOID:8649"^^xsd:string) AnnotationAssertion( "EFO:0003871"^^xsd:string) AnnotationAssertion( "MESH:D014062"^^xsd:string) AnnotationAssertion( "tongue neoplasm"^^xsd:string) AnnotationAssertion( "tongue neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005873"^^xsd:string) AnnotationAssertion(rdfs:label "Tongue Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coloboma of Macula and Skeletal Anomalies) AnnotationAssertion( "MIM:216800"^^xsd:string) AnnotationAssertion( "MESH:C565686"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005874"^^xsd:string) AnnotationAssertion(rdfs:label "Coloboma of Macula and Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Giant Platelet Syndrome with Thrombocytopenia) AnnotationAssertion( "MESH:C564237"^^xsd:string) AnnotationAssertion( "RDO:0013265"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005875"^^xsd:string) AnnotationAssertion(rdfs:label "Giant Platelet Syndrome with Thrombocytopenia"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenic Purpura) AnnotationAssertion(Annotation( "MESH:D011696"^^xsd:string) "Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms."^^xsd:string) AnnotationAssertion( "MESH:D011696"^^xsd:string) AnnotationAssertion( "Thrombocytopenic Purpuras"^^xsd:string) AnnotationAssertion( "Thrombopenic Purpura"^^xsd:string) AnnotationAssertion( "Thrombopenic Purpuras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005876"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenic Purpura"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs' Endothelial, 2) AnnotationAssertion( "MIM:610158"^^xsd:string) AnnotationAssertion( "MESH:C535479"^^xsd:string) AnnotationAssertion( "FCD1 LOCUS"^^xsd:string) AnnotationAssertion( "FECD2"^^xsd:string) AnnotationAssertion( "Late-onset Fuchs' endothelial corneal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005877"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs' Endothelial, 2"^^xsd:string) SubClassOf( ) # Class: (Tertiary Lymphoid Structures) AnnotationAssertion(Annotation( "MESH:D000072717"^^xsd:string) "Aggregates of immune cells formed near the sites of chronically inflamed, infected, or tumorous tissues."^^xsd:string) AnnotationAssertion( "MESH:D000072717"^^xsd:string) AnnotationAssertion( "Ectopic Lymph Node"^^xsd:string) AnnotationAssertion( "Ectopic Lymph Nodes"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Follicle"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Follicles"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Formation"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Formations"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Like Structures"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Organ"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Organs"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Tissue"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid Tissues"^^xsd:string) AnnotationAssertion( "Ectopic Lymphoid-Like Structure"^^xsd:string) AnnotationAssertion( "Tertiary Lymphoid Structure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005878"^^xsd:string) AnnotationAssertion(rdfs:label "Tertiary Lymphoid Structures"^^xsd:string) SubClassOf( ) # Class: (Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant) AnnotationAssertion( "MESH:C567121"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005879"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant"^^xsd:string) SubClassOf( ) # Class: (Biologically Inactive Thyrotropin) AnnotationAssertion( "RDO:0013617"^^xsd:string) AnnotationAssertion( "MESH:C564765"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005880"^^xsd:string) AnnotationAssertion(rdfs:label "Biologically Inactive Thyrotropin"^^xsd:string) SubClassOf( ) # Class: (Chilblain Lupus 1) AnnotationAssertion( "MIM:610448"^^xsd:string) AnnotationAssertion( "MESH:C535924"^^xsd:string) AnnotationAssertion( "CHBL1"^^xsd:string) AnnotationAssertion( "Chilblain lupus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chilbain lupus 1"^^xsd:string) AnnotationAssertion( "DOID:9005881"^^xsd:string) AnnotationAssertion(rdfs:label "Chilblain Lupus 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spine Osteoarthritis) AnnotationAssertion(Annotation( "MESH:D055013"^^xsd:string) "A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE)."^^xsd:string) AnnotationAssertion( "EFO:1000787"^^xsd:string) AnnotationAssertion( "MESH:D055013"^^xsd:string) AnnotationAssertion( "Lumbar Osteoarthritis"^^xsd:string) AnnotationAssertion( "Spinal Osteoarthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005882"^^xsd:string) AnnotationAssertion(rdfs:label "Spine Osteoarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pleural Effusion) AnnotationAssertion(Annotation( "MESH:D010996"^^xsd:string) "Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself."^^xsd:string) AnnotationAssertion( "EFO:0009637"^^xsd:string) AnnotationAssertion( "MESH:D010996"^^xsd:string) AnnotationAssertion( "RDO:0006358"^^xsd:string) AnnotationAssertion( "Pleural Effusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005883"^^xsd:string) AnnotationAssertion(rdfs:label "Pleural Effusion"^^xsd:string) SubClassOf( ) # Class: (Potassium Aggravated Myotonia) AnnotationAssertion( "MIM:608390"^^xsd:string) AnnotationAssertion( "MESH:C538353"^^xsd:string) AnnotationAssertion( "MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE"^^xsd:string) AnnotationAssertion( "Myotonia congenita, acetazolamide-responsive"^^xsd:string) AnnotationAssertion( "Myotonia congenita, atypical"^^xsd:string) AnnotationAssertion( "SODIUM CHANNEL MUSCLE DISEASE"^^xsd:string) AnnotationAssertion( "Sodium Channel Myotonia"^^xsd:string) AnnotationAssertion( "myotonia fluctuans"^^xsd:string) AnnotationAssertion( "myotonia permanens"^^xsd:string) AnnotationAssertion( "MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC"^^xsd:string) AnnotationAssertion( "SNEL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005884"^^xsd:string) AnnotationAssertion(rdfs:label "Potassium Aggravated Myotonia"^^xsd:string) SubClassOf( ) # Class: (Ataxia with Myoclonic Epilepsy and Presenile Dementia) AnnotationAssertion( "MIM:208700"^^xsd:string) AnnotationAssertion( "MESH:C565933"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005885"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia with Myoclonic Epilepsy and Presenile Dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE) AnnotationAssertion(Annotation( "MIM:619345"^^xsd:string) "This disease is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-12T15:49:29Z"^^xsd:string) AnnotationAssertion( "MIM:619345"^^xsd:string) AnnotationAssertion( "Ain-Naz type of dysostosis multiplex"^^xsd:string) AnnotationAssertion( "DMAN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005886"^^xsd:string) AnnotationAssertion(rdfs:label "DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hunter-McAlpine Syndrome) AnnotationAssertion( "MIM:601379"^^xsd:string) AnnotationAssertion( "MESH:C536072"^^xsd:string) AnnotationAssertion( "Hunter-McAlpine craniosynostosis"^^xsd:string) AnnotationAssertion( "Hunter-McAlpine craniosynostosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005887"^^xsd:string) AnnotationAssertion(rdfs:label "Hunter-McAlpine Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia) AnnotationAssertion( "MIM:266255"^^xsd:string) AnnotationAssertion( "MESH:C564856"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005888"^^xsd:string) AnnotationAssertion(rdfs:label "Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Suppuration) AnnotationAssertion(Annotation( "MESH:D013492"^^xsd:string) "A pathologic process consisting in the formation of pus."^^xsd:string) AnnotationAssertion( "MESH:D013492"^^xsd:string) AnnotationAssertion( "Pus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005889"^^xsd:string) AnnotationAssertion(rdfs:label "Suppuration"^^xsd:string) SubClassOf( ) # Class: (Disproportionate Tall Stature) AnnotationAssertion(Annotation( "HP:0001519"^^xsd:string) "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-13T11:28:26Z"^^xsd:string) AnnotationAssertion( "HP:0001519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005890"^^xsd:string) AnnotationAssertion(rdfs:label "Disproportionate Tall Stature"^^xsd:string) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency, 6) AnnotationAssertion( "MIM:613986"^^xsd:string) AnnotationAssertion( "COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT"^^xsd:string) AnnotationAssertion( "CPHD6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005891"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency, 6"^^xsd:string) SubClassOf( ) # Class: (Gaucher-like Disease) AnnotationAssertion( "MESH:C537675"^^xsd:string) AnnotationAssertion( "RDO:0003555"^^xsd:string) AnnotationAssertion( "Pseudo Gaucher disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005892"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher-like Disease"^^xsd:string) SubClassOf( ) # Class: (chemotherapy-induced oral mucositis) AnnotationAssertion(Annotation( "EFO:0006313"^^xsd:string) "This disease involves inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-02T14:11:06Z"^^xsd:string) AnnotationAssertion( "Drug-induced mucositis"^^xsd:string) AnnotationAssertion( "EFO:0006313"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005893"^^xsd:string) AnnotationAssertion(rdfs:label "chemotherapy-induced oral mucositis"^^xsd:string) SubClassOf( ) # Class: (Childhood-Onset Remitting Leukodystrophy) AnnotationAssertion(Annotation( "MIM:619864"^^xsd:string) "A very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Caused by heterozygous mutation in the FBP2 gene on chromosome 9q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-11T16:32:54Z"^^xsd:string) AnnotationAssertion( "MIM:619864"^^xsd:string) AnnotationAssertion( "CORLK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005894"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood-Onset Remitting Leukodystrophy"^^xsd:string) SubClassOf( ) # Class: (Congenital Cataracts, Hearing Loss, and Neurodegeneration) AnnotationAssertion( "MIM:614482"^^xsd:string) AnnotationAssertion( "ACETYL-CoA TRANSPORTER DEFICIENCY"^^xsd:string) AnnotationAssertion( "CCHLND"^^xsd:string) AnnotationAssertion( "HPBDS"^^xsd:string) AnnotationAssertion( "Huppke-Brendel syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005895"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Cataracts, Hearing Loss, and Neurodegeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tollner Horst Manzke Syndrome) AnnotationAssertion( "MESH:C536964"^^xsd:string) AnnotationAssertion( "RDO:0002700"^^xsd:string) AnnotationAssertion( "Heptacarpo-octatarso-dactyly combined with multiple malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005896"^^xsd:string) AnnotationAssertion(rdfs:label "Tollner Horst Manzke Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:618443"^^xsd:string) "A disease characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-13T13:50:23Z"^^xsd:string) AnnotationAssertion( "MIM:618443"^^xsd:string) AnnotationAssertion( "MAPK8IP3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "NEDBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005897"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: (Chromosome 2, Trisomy 2pter p24) AnnotationAssertion( "MESH:C535366"^^xsd:string) AnnotationAssertion( "RDO:0000448"^^xsd:string) AnnotationAssertion( "Duplication 2pter p24"^^xsd:string) AnnotationAssertion( "Trisomy 2pter p24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005898"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Trisomy 2pter p24"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Seckel syndrome 11) AnnotationAssertion(Annotation( "MIM:620767"^^xsd:string) "A disease characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities. Caused by homozygous or compound heterozygous mutation in the CEP295 gene on chromosome 11q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-04-22T17:10:40Z"^^xsd:string) AnnotationAssertion( "MIM:620767"^^xsd:string) AnnotationAssertion( "SCKL11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005900"^^xsd:string) AnnotationAssertion(rdfs:label "Seckel syndrome 11"^^xsd:string) SubClassOf( ) # Class: (Nystagmus 5, Infantile Periodic Alternating) AnnotationAssertion( "MESH:C564478"^^xsd:string) AnnotationAssertion( "Nystagmus, Infantile Periodic Alternating, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005901"^^xsd:string) AnnotationAssertion(rdfs:label "Nystagmus 5, Infantile Periodic Alternating"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus) AnnotationAssertion( "MIM:202900"^^xsd:string) AnnotationAssertion( "MESH:C565968"^^xsd:string) AnnotationAssertion( "Stimmler Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005902"^^xsd:string) AnnotationAssertion(rdfs:label "Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Missed Abortions) AnnotationAssertion(Annotation( "MESH:D000030"^^xsd:string) "The retention in the UTERUS of a dead FETUS two months or more after its DEATH."^^xsd:string) AnnotationAssertion( "RDO:0004692"^^xsd:string) AnnotationAssertion( "MESH:D000030"^^xsd:string) AnnotationAssertion( "missed abortion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005903"^^xsd:string) AnnotationAssertion(rdfs:label "Missed Abortions"^^xsd:string) SubClassOf( ) # Class: (Glucocorticoid Deficiency 4) AnnotationAssertion( "MIM:614736"^^xsd:string) AnnotationAssertion( "GCCD4"^^xsd:string) AnnotationAssertion( "NNT-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency"^^xsd:string) AnnotationAssertion( "glucocorticoid deficiency 4 with mineralocorticoid deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005904"^^xsd:string) AnnotationAssertion(rdfs:label "Glucocorticoid Deficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Type 2 Diabetes Mellitus 5) AnnotationAssertion( "MIM:616087"^^xsd:string) AnnotationAssertion( "NIDDM5"^^xsd:string) AnnotationAssertion( "T2D5"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus 5"^^xsd:string) AnnotationAssertion( "type 2 diabetes 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005905"^^xsd:string) AnnotationAssertion(rdfs:label "Type 2 Diabetes Mellitus 5"^^xsd:string) SubClassOf( ) # Class: (Carcinoid Heart Disease) AnnotationAssertion(Annotation( "MESH:D002275"^^xsd:string) "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation."^^xsd:string) AnnotationAssertion( "EFO:1001769"^^xsd:string) AnnotationAssertion( "MESH:D002275"^^xsd:string) AnnotationAssertion( "RDO:0005111"^^xsd:string) AnnotationAssertion( "Carcinoid Heart Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005906"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinoid Heart Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Retrograde Degeneration) AnnotationAssertion(Annotation( "MESH:D012183"^^xsd:string) "Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons."^^xsd:string) AnnotationAssertion( "MESH:D012183"^^xsd:string) AnnotationAssertion( "RDO:0006484"^^xsd:string) AnnotationAssertion( "Axon Reaction"^^xsd:string) AnnotationAssertion( "Axon Reactions"^^xsd:string) AnnotationAssertion( "Axonal Reaction"^^xsd:string) AnnotationAssertion( "Axonal Reactions"^^xsd:string) AnnotationAssertion( "Nissl Degeneration"^^xsd:string) AnnotationAssertion( "Retrograde Degenerations"^^xsd:string) AnnotationAssertion( "Trans Synaptic Degeneration"^^xsd:string) AnnotationAssertion( "Trans-Synaptic Degenerations"^^xsd:string) AnnotationAssertion( "Transneuronal Retrograde Degeneration"^^xsd:string) AnnotationAssertion( "Transneuronal Retrograde Degenerations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005908"^^xsd:string) AnnotationAssertion(rdfs:label "Retrograde Degeneration"^^xsd:string) SubClassOf( ) # Class: (Keratoconus 2) AnnotationAssertion( "MIM:608932"^^xsd:string) AnnotationAssertion( "MESH:C563827"^^xsd:string) AnnotationAssertion( "KTCN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005909"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hyperapobetalipoproteinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:170998"^^xsd:string) AnnotationAssertion( "RDO:9000794"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hyperapobetalipoproteinemia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9005911"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperapobetalipoproteinemia"^^xsd:string) SubClassOf( ) # Class: (Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency) AnnotationAssertion( "MIM:613470"^^xsd:string) AnnotationAssertion( "DISORDER OF GLYCOLYSIS"^^xsd:string) AnnotationAssertion( "GPI-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005912"^^xsd:string) AnnotationAssertion(rdfs:label "Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Keratoconus and Congenital Hip Dysplasia) AnnotationAssertion( "MIM:244510"^^xsd:string) AnnotationAssertion( "MESH:C565456"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005913"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus and Congenital Hip Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cubitus Valgus with Impaired Intellectual Development and Unusual Facies) AnnotationAssertion( "MIM:300471"^^xsd:string) AnnotationAssertion( "MESH:C564510"^^xsd:string) AnnotationAssertion( "cubitus valgus with mental retardation and unusual facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005914"^^xsd:string) AnnotationAssertion(rdfs:label "Cubitus Valgus with Impaired Intellectual Development and Unusual Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Radial Drusen, Autosomal Dominant) AnnotationAssertion( "MESH:C565088"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005916"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Drusen, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neuhauser Eichner Opitz Syndrome) AnnotationAssertion( "MIM:130950"^^xsd:string) AnnotationAssertion( "MESH:C536407"^^xsd:string) AnnotationAssertion( "Encephalopathy, recurrent, of childhood"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005917"^^xsd:string) AnnotationAssertion(rdfs:label "Neuhauser Eichner Opitz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fountain Syndrome) AnnotationAssertion( "MIM:229120"^^xsd:string) AnnotationAssertion( "MESH:C537270"^^xsd:string) AnnotationAssertion( "Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips"^^xsd:string) AnnotationAssertion( "Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005918"^^xsd:string) AnnotationAssertion(rdfs:label "Fountain Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (African Swine Fever) AnnotationAssertion(Annotation( "MESH:D000357"^^xsd:string) "A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)."^^xsd:string) AnnotationAssertion( "MESH:D000357"^^xsd:string) AnnotationAssertion( "RDO:0004773"^^xsd:string) AnnotationAssertion( "Wart Hog Disease"^^xsd:string) AnnotationAssertion( "Wart-Hog Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005919"^^xsd:string) AnnotationAssertion(rdfs:label "African Swine Fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glycine Encephalopathy 1) AnnotationAssertion(Annotation( "MIM:605899"^^xsd:string) "A glycine encephalopathy caused by homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-14T14:33:12Z"^^xsd:string) AnnotationAssertion( "MIM:605899"^^xsd:string) AnnotationAssertion( "GCE1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005920"^^xsd:string) AnnotationAssertion(rdfs:label "Glycine Encephalopathy 1"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease, Dominant Intermediate 2) AnnotationAssertion( "MESH:C535400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005921"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease, Dominant Intermediate 2"^^xsd:string) SubClassOf( ) # Class: (Myopathy with Storage of Glycoproteins and Glycosaminoglycans) AnnotationAssertion( "MIM:160570"^^xsd:string) AnnotationAssertion( "MESH:C563542"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005922"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy with Storage of Glycoproteins and Glycosaminoglycans"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-10T15:52:34Z"^^xsd:string) AnnotationAssertion( "MIM:300864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005923"^^xsd:string) AnnotationAssertion(rdfs:label "CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cat Diseases) AnnotationAssertion(Annotation( "MESH:D002371"^^xsd:string) "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used."^^xsd:string) AnnotationAssertion( "MESH:D002371"^^xsd:string) AnnotationAssertion( "RDO:0005143"^^xsd:string) AnnotationAssertion( "Cat Disease"^^xsd:string) AnnotationAssertion( "Feline Disease"^^xsd:string) AnnotationAssertion( "Feline Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005924"^^xsd:string) AnnotationAssertion(rdfs:label "Cat Diseases"^^xsd:string) SubClassOf( ) # Class: (Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency) AnnotationAssertion( "MIM:202010"^^xsd:string) AnnotationAssertion( "MESH:C535978"^^xsd:string) AnnotationAssertion( "RDO:0001372"^^xsd:string) AnnotationAssertion( "11-Beta-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "11B Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "Adrenal Hyperplasia IV"^^xsd:string) AnnotationAssertion( "Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "Adrenal Hyperplasia, Hypertensive Form"^^xsd:string) AnnotationAssertion( "Adrenal hyperplasia 4"^^xsd:string) AnnotationAssertion( "Congenital adrenal hyperplasia type 4"^^xsd:string) AnnotationAssertion( "Hypertensive form of adrenal hyperplasia"^^xsd:string) AnnotationAssertion( "P450C11B1 deficiency"^^xsd:string) AnnotationAssertion( "Steroid 11 Beta Hydroxylase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005925"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Leigh Syndrome, X-Linked) AnnotationAssertion( "MESH:C564114"^^xsd:string) AnnotationAssertion( "RDO:0013183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005926"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Trisomy 3p25) AnnotationAssertion( "MESH:C536812"^^xsd:string) AnnotationAssertion( "Duplication 3p25"^^xsd:string) AnnotationAssertion( "Trisomy 3p25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005927"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Trisomy 3p25"^^xsd:string) SubClassOf( ) # Class: (Speech Disturbance - Use of Faulty Phrasing and Unrelated Words) AnnotationAssertion( "MESH:C538446"^^xsd:string) AnnotationAssertion( "RDO:0004414"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005928"^^xsd:string) AnnotationAssertion(rdfs:label "Speech Disturbance - Use of Faulty Phrasing and Unrelated Words"^^xsd:string) SubClassOf( ) # Class: (De Hauwere Leroy Adriaenssens syndrome) AnnotationAssertion( "MESH:C535991"^^xsd:string) AnnotationAssertion( "Iris dysplasia, orbital hypertelorism, and psychomotor retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005929"^^xsd:string) AnnotationAssertion(rdfs:label "De Hauwere Leroy Adriaenssens syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Endotoxemia) AnnotationAssertion(Annotation( "MESH:D019446"^^xsd:string) "A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators."^^xsd:string) AnnotationAssertion( "MESH:D019446"^^xsd:string) AnnotationAssertion( "Endotoxemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005930"^^xsd:string) AnnotationAssertion(rdfs:label "Endotoxemia"^^xsd:string) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells) AnnotationAssertion( "MESH:C565731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005931"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urinary Bladder Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the urinary bladder, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "bladder reperfusion injury"^^xsd:string) AnnotationAssertion( "DOID:9005932"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Bladder Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lazy Leukocyte Syndrome) AnnotationAssertion( "An autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections."^^xsd:string) AnnotationAssertion( "MIM:150550"^^xsd:string) AnnotationAssertion( "MESH:C562721"^^xsd:string) AnnotationAssertion( "PFITS"^^xsd:string) AnnotationAssertion( "WDR1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "WDR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "periodic fever, immunodeficiency, and thrombocytopenia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005933"^^xsd:string) AnnotationAssertion(rdfs:label "Lazy Leukocyte Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trisomy 22 Mosaicism Syndrome) AnnotationAssertion( "MESH:C536796"^^xsd:string) AnnotationAssertion( "Chromosome 22 trisomy mosaic"^^xsd:string) AnnotationAssertion( "Trisomy 22 mosaic"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005934"^^xsd:string) AnnotationAssertion(rdfs:label "Trisomy 22 Mosaicism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Gastro-Enteropancreatic Neuroendocrine Tumor) AnnotationAssertion( "MESH:C535650"^^xsd:string) AnnotationAssertion( "Gastroenteropancreatic neuroendocrine tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005936"^^xsd:string) AnnotationAssertion(rdfs:label "Gastro-Enteropancreatic Neuroendocrine Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deafness-Hypogonadism Syndrome) AnnotationAssertion( "MIM:304350"^^xsd:string) AnnotationAssertion( "MESH:C564435"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005937"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness-Hypogonadism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mesoaxial Synostotic Syndactyly with Phalangeal Reduction) AnnotationAssertion( "MIM:609432"^^xsd:string) AnnotationAssertion( "MESH:C563721"^^xsd:string) AnnotationAssertion( "MSSD"^^xsd:string) AnnotationAssertion( "SYNDACTYLY TYPE 9"^^xsd:string) AnnotationAssertion( "Syndactyly, Malik-Percin Type"^^xsd:string) AnnotationAssertion( "syndactyly, type 9"^^xsd:string) AnnotationAssertion( "syndactyly, type IX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005938"^^xsd:string) AnnotationAssertion(rdfs:label "Mesoaxial Synostotic Syndactyly with Phalangeal Reduction"^^xsd:string) SubClassOf( ) # Class: (Pinheiro Freire-Maia Miranda Syndrome) AnnotationAssertion( "MESH:C537402"^^xsd:string) AnnotationAssertion( "Trichodermodysplasia with dental alterations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005939"^^xsd:string) AnnotationAssertion(rdfs:label "Pinheiro Freire-Maia Miranda Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Diffuse Lewy Body Disease) AnnotationAssertion( "MESH:C538637"^^xsd:string) AnnotationAssertion( "RDO:0004558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005940"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Diffuse Lewy Body Disease"^^xsd:string) SubClassOf( ) # Class: (Rhinosinusitis) AnnotationAssertion( "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005941"^^xsd:string) AnnotationAssertion(rdfs:label "Rhinosinusitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Laurence Prosser Rocker Syndrome) AnnotationAssertion( "MESH:C537882"^^xsd:string) AnnotationAssertion( "RDO:0003793"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005942"^^xsd:string) AnnotationAssertion(rdfs:label "Laurence Prosser Rocker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weinstein Kliman Scully Syndrome) AnnotationAssertion( "MESH:C536688"^^xsd:string) AnnotationAssertion( "RDO:0002336"^^xsd:string) AnnotationAssertion( "Cardiomyopathy, hypogonadism and metabolic anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005943"^^xsd:string) AnnotationAssertion(rdfs:label "Weinstein Kliman Scully Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Slit Ventricle Syndrome) AnnotationAssertion(Annotation( "MESH:D056124"^^xsd:string) "An intermittent and self-limiting headache disorder in individuals with CEREBROSPINAL FLUID SHUNTS emplaced for the treatment of HYDROCEPHALUS. The symptoms of headache, vomiting, and cranial neuropathies are associated with intermittent obstruction of the shunt."^^xsd:string) AnnotationAssertion( "MESH:D056124"^^xsd:string) AnnotationAssertion( "Slit Ventricle Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005944"^^xsd:string) AnnotationAssertion(rdfs:label "Slit Ventricle Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dermoids of Cornea) AnnotationAssertion( "MIM:304730"^^xsd:string) AnnotationAssertion( "MESH:C535376"^^xsd:string) AnnotationAssertion( "Bilateral corneal dermoids"^^xsd:string) AnnotationAssertion( "CND"^^xsd:string) AnnotationAssertion( "Corneal dermoids and short stature"^^xsd:string) AnnotationAssertion( "Guizar-Vazquez Luengas-Munoz syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005945"^^xsd:string) AnnotationAssertion(rdfs:label "Dermoids of Cornea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mononeuropathy of the Median Nerve, Mild) AnnotationAssertion( "SH3TC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SH3TC2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:613353"^^xsd:string) AnnotationAssertion( "RDO:0009823"^^xsd:string) AnnotationAssertion( "CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MNMN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005946"^^xsd:string) AnnotationAssertion(rdfs:label "Mononeuropathy of the Median Nerve, Mild"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (2,4-Dienoyl-CoA Reductase Deficiency) AnnotationAssertion( "MIM:616034"^^xsd:string) AnnotationAssertion( "MESH:C565624"^^xsd:string) AnnotationAssertion( "DECRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005948"^^xsd:string) AnnotationAssertion(rdfs:label "2,4-Dienoyl-CoA Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Saal Bulas Syndrome) AnnotationAssertion( "MESH:C537193"^^xsd:string) AnnotationAssertion( "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005949"^^xsd:string) AnnotationAssertion(rdfs:label "Saal Bulas Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Orthostatic Hypotension) AnnotationAssertion(Annotation( "MESH:D007024"^^xsd:string) "A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE."^^xsd:string) AnnotationAssertion( "RDO:0004625"^^xsd:string) AnnotationAssertion( "EFO:0005252"^^xsd:string) AnnotationAssertion( "MESH:D007024"^^xsd:string) AnnotationAssertion( "MIM:PS223360"^^xsd:string) AnnotationAssertion( "postural hypotension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005950"^^xsd:string) AnnotationAssertion(rdfs:label "Orthostatic Hypotension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620001"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-26T11:01:07Z"^^xsd:string) AnnotationAssertion( "MIM:620001"^^xsd:string) AnnotationAssertion( "NEDSSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005951"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypocapnia) AnnotationAssertion(Annotation( "MESH:D016857"^^xsd:string) "Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood."^^xsd:string) AnnotationAssertion( "MESH:D016857"^^xsd:string) AnnotationAssertion( "RDO:0007000"^^xsd:string) AnnotationAssertion( "Hypocapnias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005953"^^xsd:string) AnnotationAssertion(rdfs:label "Hypocapnia"^^xsd:string) SubClassOf( ) # Class: (Mondini Dysplasia) AnnotationAssertion( "A congenital inner ear malformation that features hearing loss and a cochlea that contains a normal basal turn and cystic apex, a minimally dilated vestibule, and an enlarged vestibular aqueduct. This term has also been used to describe multiple variants of cochlear hypoplasia."^^xsd:string) AnnotationAssertion( "RDO:9000073"^^xsd:string) AnnotationAssertion( "Mondini deformity"^^xsd:string) AnnotationAssertion( "Mondini malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005954"^^xsd:string) AnnotationAssertion(rdfs:label "Mondini Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Triploidy) AnnotationAssertion(Annotation( "MESH:D057885"^^xsd:string) "Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES."^^xsd:string) AnnotationAssertion( "MESH:D057885"^^xsd:string) AnnotationAssertion( "Triploid"^^xsd:string) AnnotationAssertion( "Triploidies"^^xsd:string) AnnotationAssertion( "Triploids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005955"^^xsd:string) AnnotationAssertion(rdfs:label "Triploidy"^^xsd:string) SubClassOf( ) # Class: (Pneumovirinae infections) AnnotationAssertion(Annotation( "MESH:D018099"^^xsd:string) "Infections with viruses of the subfamily Pneumovirinae. This includes two genera: PNEUMOVIRUS and METAPNEUMOVIRUS."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-12-21T15:41:58Z"^^xsd:string) AnnotationAssertion( "MESH:D018099"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005956"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumovirinae infections"^^xsd:string) SubClassOf( ) # Class: (Pinealoma) AnnotationAssertion(Annotation( "MESH:D010871"^^xsd:string) "Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670)"^^xsd:string) AnnotationAssertion( "EFO:1000476"^^xsd:string) AnnotationAssertion( "Mixed Pineocytoma Pineoblastoma"^^xsd:string) AnnotationAssertion( "Mixed Pineocytoma-Pineoblastomas"^^xsd:string) AnnotationAssertion( "Pineal Gland Tumor"^^xsd:string) AnnotationAssertion( "Pineal Gland Tumors"^^xsd:string) AnnotationAssertion( "Pineal Neoplasm"^^xsd:string) AnnotationAssertion( "Pineal Neoplasms"^^xsd:string) AnnotationAssertion( "Pineal Parenchymal Tumor"^^xsd:string) AnnotationAssertion( "Pineal Parenchymal Tumors"^^xsd:string) AnnotationAssertion( "Pineal Tumor"^^xsd:string) AnnotationAssertion( "Pineal Tumors"^^xsd:string) AnnotationAssertion( "Pinealocytoma"^^xsd:string) AnnotationAssertion( "Pinealocytomas"^^xsd:string) AnnotationAssertion( "Pinealomas"^^xsd:string) AnnotationAssertion( "pineocytoma"^^xsd:string) AnnotationAssertion( "pineocytomas"^^xsd:string) AnnotationAssertion( "tumor of the pineal region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005957"^^xsd:string) AnnotationAssertion(rdfs:label "Pinealoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurofibromatosis Type 3, Mixed Central and Peripheral) AnnotationAssertion( "MIM:162260"^^xsd:string) AnnotationAssertion( "MESH:C537389"^^xsd:string) AnnotationAssertion( "Neurofibromas, Palmar Cutaneous"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type 3, Riccardi type"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type III, Mixed Central and Peripheral"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type III, Riccardi Type"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type III, of Riccardi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005958"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofibromatosis Type 3, Mixed Central and Peripheral"^^xsd:string) SubClassOf( ) # Class: (Gonadal Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D018309"^^xsd:string) "Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells."^^xsd:string) AnnotationAssertion( "DOID:9008100"^^xsd:string) AnnotationAssertion( "EFO:0000514"^^xsd:string) AnnotationAssertion( "EFO:1000953"^^xsd:string) AnnotationAssertion( "MESH:C564777"^^xsd:string) AnnotationAssertion( "MESH:D018309"^^xsd:string) AnnotationAssertion( "Gonadal Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "Male Germ Cell Tumor"^^xsd:string) AnnotationAssertion( "germ cell tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005959"^^xsd:string) AnnotationAssertion(rdfs:label "Gonadal Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 51) AnnotationAssertion(Annotation( "MIM:620438"^^xsd:string) "A male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Caused by homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:40:16Z"^^xsd:string) AnnotationAssertion( "MIM:620438"^^xsd:string) AnnotationAssertion( "CILD51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005960"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 51"^^xsd:string) SubClassOf( ) # Class: (Familial Hypercholanemia 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T11:51:41Z"^^xsd:string) AnnotationAssertion( "TJP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:607748"^^xsd:string) AnnotationAssertion( "FHCA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005961"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypercholanemia 1"^^xsd:string) SubClassOf( ) # Class: (Multiple Pterygium Syndrome, Lethal Type) AnnotationAssertion( "RDO:0008388"^^xsd:string) AnnotationAssertion( "CHRNG-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:253290"^^xsd:string) AnnotationAssertion( "LMPS"^^xsd:string) AnnotationAssertion( "lethal multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005962"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Pterygium Syndrome, Lethal Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Arthrogryposis, with Impaired Proprioception and Touch) AnnotationAssertion( "An autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617146"^^xsd:string) AnnotationAssertion( "DAIPT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005963"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis, with Impaired Proprioception and Touch"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pigmentary Dilution) AnnotationAssertion( "MIM:126070"^^xsd:string) AnnotationAssertion( "MESH:C566872"^^xsd:string) AnnotationAssertion( "oculocutaneous albinoidism, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005964"^^xsd:string) AnnotationAssertion(rdfs:label "Pigmentary Dilution"^^xsd:string) SubClassOf( ) # Class: (Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus) AnnotationAssertion( "MIM:158500"^^xsd:string) AnnotationAssertion( "MESH:C562774"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005965"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Staphylococcal Skin Infections) AnnotationAssertion(Annotation( "MESH:D013207"^^xsd:string) "Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS."^^xsd:string) AnnotationAssertion( "EFO:1001849"^^xsd:string) AnnotationAssertion( "MESH:D013207"^^xsd:string) AnnotationAssertion( "RDO:0005639"^^xsd:string) AnnotationAssertion( "Skin Staphylococcal Disease"^^xsd:string) AnnotationAssertion( "Skin Staphylococcal Diseases"^^xsd:string) AnnotationAssertion( "Skin Staphylococcal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005966"^^xsd:string) AnnotationAssertion(rdfs:label "Staphylococcal Skin Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Spermatogenic Failure 6) AnnotationAssertion(Annotation( "MIM:301101"^^xsd:string) "A male infertility due to asthenoteratozoospermia. Caused by hemizygous mutation in the USP26 gene on chromosome Xq26."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-17T09:19:35Z"^^xsd:string) AnnotationAssertion( "MIM:301101"^^xsd:string) AnnotationAssertion( "SPGFX6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005967"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Spermatogenic Failure 6"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neuralgia) AnnotationAssertion(Annotation( "MESH:D009437"^^xsd:string) "Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve."^^xsd:string) AnnotationAssertion( "EFO:0005762"^^xsd:string) AnnotationAssertion( "EFO:0009430"^^xsd:string) AnnotationAssertion( "MESH:D009437"^^xsd:string) AnnotationAssertion( "Atypical Neuralgia"^^xsd:string) AnnotationAssertion( "Atypical Neuralgias"^^xsd:string) AnnotationAssertion( "Iliohypogastric Nerve Neuralgia"^^xsd:string) AnnotationAssertion( "Iliohypogastric Nerve Neuralgias"^^xsd:string) AnnotationAssertion( "Ilioinguinal Neuralgia"^^xsd:string) AnnotationAssertion( "Ilioinguinal Neuralgias"^^xsd:string) AnnotationAssertion( "Nerve Pain"^^xsd:string) AnnotationAssertion( "Nerve Pains"^^xsd:string) AnnotationAssertion( "Neuralgias"^^xsd:string) AnnotationAssertion( "Neurodynia"^^xsd:string) AnnotationAssertion( "Neurodynias"^^xsd:string) AnnotationAssertion( "Neuropathic Pain"^^xsd:string) AnnotationAssertion( "Neuropathic Pains"^^xsd:string) AnnotationAssertion( "Paroxysmal Nerve Pain"^^xsd:string) AnnotationAssertion( "Paroxysmal Nerve Pains"^^xsd:string) AnnotationAssertion( "Perineal Neuralgia"^^xsd:string) AnnotationAssertion( "Perineal Neuralgias"^^xsd:string) AnnotationAssertion( "Stump Neuralgia"^^xsd:string) AnnotationAssertion( "Stump Neuralgias"^^xsd:string) AnnotationAssertion( "Supraorbital Neuralgia"^^xsd:string) AnnotationAssertion( "Supraorbital Neuralgias"^^xsd:string) AnnotationAssertion( "Vidian Neuralgia"^^xsd:string) AnnotationAssertion( "Vidian Neuralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005968"^^xsd:string) AnnotationAssertion(rdfs:label "Neuralgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Refractory Anemia with Excess of Blasts) AnnotationAssertion(Annotation( "MESH:D000754"^^xsd:string) "Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells."^^xsd:string) AnnotationAssertion( "EFO:0003811"^^xsd:string) AnnotationAssertion( "MESH:D000754"^^xsd:string) AnnotationAssertion( "RAEB"^^xsd:string) AnnotationAssertion( "RAEM"^^xsd:string) AnnotationAssertion( "Smoldering Leukemia"^^xsd:string) AnnotationAssertion( "Smoldering Leukemias"^^xsd:string) AnnotationAssertion( "Smouldering Leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005969"^^xsd:string) AnnotationAssertion(rdfs:label "Refractory Anemia with Excess of Blasts"^^xsd:string) SubClassOf( ) # Class: (Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis) AnnotationAssertion( "MIM:609069"^^xsd:string) AnnotationAssertion( "MESH:C563796"^^xsd:string) AnnotationAssertion( "PACA"^^xsd:string) AnnotationAssertion( "pancreatic and cerebellar agenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005970"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lelis Syndrome) AnnotationAssertion( "MIM:608290"^^xsd:string) AnnotationAssertion( "MESH:C564261"^^xsd:string) AnnotationAssertion( "hypohidrotic ectodermal dysplasia with acanthosis nigricans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005973"^^xsd:string) AnnotationAssertion(rdfs:label "Lelis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Acromelic Frontonasal Dysplasia) AnnotationAssertion( "MESH:C535657"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005975"^^xsd:string) AnnotationAssertion(rdfs:label "Acromelic Frontonasal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Surfactant Metabolism Dysfunction 2) AnnotationAssertion( "MIM:610913"^^xsd:string) AnnotationAssertion( "MESH:C567048"^^xsd:string) AnnotationAssertion( "Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency"^^xsd:string) AnnotationAssertion( "Interstitial Lung Disease Due To Surfactant Protein C Deficiency"^^xsd:string) AnnotationAssertion( "SMDP2"^^xsd:string) AnnotationAssertion( "congenital pulmonary alveolar proteinosis 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005976"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Surfactant Metabolism Dysfunction 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eosinophilic leukemia) AnnotationAssertion( "A leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-20T15:43:14Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005977"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilic leukemia"^^xsd:string) SubClassOf( ) # Class: (Cerebellar Ataxia and Ectodermal Dysplasia) AnnotationAssertion( "MIM:212835"^^xsd:string) AnnotationAssertion( "MESH:C535350"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005978"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia and Ectodermal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine) AnnotationAssertion( "Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-05-24T16:39:26Z"^^xsd:string) AnnotationAssertion( "EFO:0010257"^^xsd:string) AnnotationAssertion( "MIM:618412"^^xsd:string) AnnotationAssertion( "GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005979"^^xsd:string) AnnotationAssertion(rdfs:label "Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ramon Syndrome) AnnotationAssertion( "MIM:266270"^^xsd:string) AnnotationAssertion( "MESH:C535285"^^xsd:string) AnnotationAssertion( "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth"^^xsd:string) AnnotationAssertion( "gingival fibromatosis combined with cherubism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005980"^^xsd:string) AnnotationAssertion(rdfs:label "Ramon Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Midline Defects, X-Linked) AnnotationAssertion( "MESH:C564054"^^xsd:string) AnnotationAssertion( "RDO:0013147"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005981"^^xsd:string) AnnotationAssertion(rdfs:label "Midline Defects, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudoainhum) AnnotationAssertion( "MESH:C535821"^^xsd:string) AnnotationAssertion( "RDO:0001139"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005982"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoainhum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebroretinal Microangiopathy with Calcifications and Cysts 2) AnnotationAssertion( "An autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617341"^^xsd:string) AnnotationAssertion( "CRMCC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005983"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebroretinal Microangiopathy with Calcifications and Cysts 2"^^xsd:string) SubClassOf( ) # Class: (Multisystem Autoimmune Disease, Infantile-Onset, 2) AnnotationAssertion( "MIM:617006"^^xsd:string) AnnotationAssertion( "ADMIO2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005984"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystem Autoimmune Disease, Infantile-Onset, 2"^^xsd:string) SubClassOf( ) # Class: (Rubinstein Taybi like Syndrome) AnnotationAssertion( "MESH:C535877"^^xsd:string) AnnotationAssertion( "RDO:0001230"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005985"^^xsd:string) AnnotationAssertion(rdfs:label "Rubinstein Taybi like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Behcet-Like Autoinflammatory Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:50:56Z"^^xsd:string) AnnotationAssertion( "MIM:PS616744"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005986"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Behcet-Like Autoinflammatory Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Multicystic Dysplastic Kidney) AnnotationAssertion(Annotation( "MESH:D021782"^^xsd:string) "A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY."^^xsd:string) AnnotationAssertion( "MESH:D021782"^^xsd:string) AnnotationAssertion( "RDO:0003207"^^xsd:string) AnnotationAssertion( "Bilateral Multicystic Dysplastic Kidneys"^^xsd:string) AnnotationAssertion( "Multicystic Dysplastic Kidneys"^^xsd:string) AnnotationAssertion( "Multicystic Kidney"^^xsd:string) AnnotationAssertion( "Multicystic Kidney Dysplasia"^^xsd:string) AnnotationAssertion( "Multicystic Kidney Dysplasias"^^xsd:string) AnnotationAssertion( "Multicystic Kidneys"^^xsd:string) AnnotationAssertion( "Multicystic Renal Dysplasia"^^xsd:string) AnnotationAssertion( "Multicystic Renal Dysplasias"^^xsd:string) AnnotationAssertion( "Unilateral Multicystic Dysplastic Kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005988"^^xsd:string) AnnotationAssertion(rdfs:label "Multicystic Dysplastic Kidney"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (False Aneurysm) AnnotationAssertion(Annotation( "MESH:D017541"^^xsd:string) "Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue."^^xsd:string) AnnotationAssertion( "EFO:1001265"^^xsd:string) AnnotationAssertion( "MESH:D017541"^^xsd:string) AnnotationAssertion( "Aneurysm, False"^^xsd:string) AnnotationAssertion( "False Aneurysms"^^xsd:string) AnnotationAssertion( "Pseudoaneurysm"^^xsd:string) AnnotationAssertion( "Pseudoaneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005989"^^xsd:string) AnnotationAssertion(rdfs:label "False Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 1) AnnotationAssertion( "MESH:C566568"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005990"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 1"^^xsd:string) SubClassOf( ) # Class: (Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome) AnnotationAssertion( "MIM:601794"^^xsd:string) AnnotationAssertion( "MESH:C566623"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005991"^^xsd:string) AnnotationAssertion(rdfs:label "Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rothmund-Thomson Syndrome Type 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-18T10:48:41Z"^^xsd:string) AnnotationAssertion( "MIM:268400"^^xsd:string) AnnotationAssertion( "RTS2"^^xsd:string) AnnotationAssertion( "Rothmund-Thomson syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005992"^^xsd:string) AnnotationAssertion(rdfs:label "Rothmund-Thomson Syndrome Type 2"^^xsd:string) SubClassOf( ) # Class: (Tonoki Syndrome) AnnotationAssertion( "MIM:603396"^^xsd:string) AnnotationAssertion( "MESH:C536967"^^xsd:string) AnnotationAssertion( "Short stature, brachydactyly, nail dysplasia, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005993"^^xsd:string) AnnotationAssertion(rdfs:label "Tonoki Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immotile Cilia Syndrome, due to Excessively Long Cilia) AnnotationAssertion( "MIM:242680"^^xsd:string) AnnotationAssertion( "MESH:C536287"^^xsd:string) AnnotationAssertion( "Ciliary Dyskinesia With Excessively Long Cilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005994"^^xsd:string) AnnotationAssertion(rdfs:label "Immotile Cilia Syndrome, due to Excessively Long Cilia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Developmental and Epileptic Encephalopathy 115) AnnotationAssertion(Annotation( "MIM:620783"^^xsd:string) "This disease is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypoplasia/aplasia of the corpus callosum, neurodevelopmental arrest, and early death."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-10T17:51:53Z"^^xsd:string) AnnotationAssertion( "SNF8-ASSOCIATED DISEASE"^^xsd:string) AnnotationAssertion( "MIM:620783"^^xsd:string) AnnotationAssertion( "DEE115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005995"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental and Epileptic Encephalopathy 115"^^xsd:string) SubClassOf( ) # Class: (Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-07T09:49:10Z"^^xsd:string) AnnotationAssertion( "MIM:619141"^^xsd:string) AnnotationAssertion( "FTDALS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005996"^^xsd:string) AnnotationAssertion(rdfs:label "Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5"^^xsd:string) SubClassOf( ) # Class: (Uncombable Hair Syndrome) AnnotationAssertion( "MESH:C536939"^^xsd:string) AnnotationAssertion( "Cheveux incoiffables"^^xsd:string) AnnotationAssertion( "Pili trianguli et Canaliculi"^^xsd:string) AnnotationAssertion( "UHS"^^xsd:string) AnnotationAssertion( "Unmanageable hair syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005997"^^xsd:string) AnnotationAssertion(rdfs:label "Uncombable Hair Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hyperostosis Frontalis Interna) AnnotationAssertion(Annotation( "MESH:D006957"^^xsd:string) "Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause."^^xsd:string) AnnotationAssertion( "DOID:9001859"^^xsd:string) AnnotationAssertion( "MESH:C538586"^^xsd:string) AnnotationAssertion( "MIM:144800"^^xsd:string) AnnotationAssertion( "GARD:8593"^^xsd:string) AnnotationAssertion( "MESH:D006957"^^xsd:string) AnnotationAssertion( "MONDO:0007766"^^xsd:string) AnnotationAssertion( "ORDO:77296"^^xsd:string) AnnotationAssertion( "Hyperostosis Frontalis Interna, Obesity, Shortness and Cognitive Impairment"^^xsd:string) AnnotationAssertion( "Leontiasis Ossium"^^xsd:string) AnnotationAssertion( "Morgagni Stewart Morel Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9005999"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperostosis Frontalis Interna"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mental Retardation and Distinctive Facial Features with or without Cardiac Defects) AnnotationAssertion(Annotation( "MIM:616789"^^xsd:string) "This disease is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia."^^xsd:string) AnnotationAssertion( "MED13L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MED13L-related disorder"^^xsd:string) AnnotationAssertion( "MIM:616789"^^xsd:string) AnnotationAssertion( "Asadollahi-Rauch syndrome"^^xsd:string) AnnotationAssertion( "CARDIAC ANOMALIES - DEVELOPMENTAL DELAY - FACIAL DYSMORPHISM SYNDROME"^^xsd:string) AnnotationAssertion( "MRFACD"^^xsd:string) AnnotationAssertion( "impaired intellectual development and distinctive facial features with or without cardiac defects"^^xsd:string) AnnotationAssertion( "IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006001"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation and Distinctive Facial Features with or without Cardiac Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stewart Treves Syndrome) AnnotationAssertion( "MESH:C537491"^^xsd:string) AnnotationAssertion( "Angiosarcoma associated with chronic lymphedema"^^xsd:string) AnnotationAssertion( "lymphangiosarcoma following mastectomy"^^xsd:string) AnnotationAssertion( "lymphangiosarcoma of Stewart and Treves"^^xsd:string) AnnotationAssertion( "postmastectomy extremity angiosarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006002"^^xsd:string) AnnotationAssertion(rdfs:label "Stewart Treves Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Palmoplantar Keratoderma, Norrbotten Recessive Type) AnnotationAssertion( "MIM:244850"^^xsd:string) AnnotationAssertion( "MESH:C565454"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006003"^^xsd:string) AnnotationAssertion(rdfs:label "Palmoplantar Keratoderma, Norrbotten Recessive Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB) AnnotationAssertion( "MIM:613729"^^xsd:string) AnnotationAssertion( "DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006005"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondylocostal Dysostosis, Autosomal Recessive) AnnotationAssertion( "OMIA:001944"^^xsd:string) AnnotationAssertion( "MESH:C535781"^^xsd:string) AnnotationAssertion( "COSTOVERTEBRAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "VERTEBRAL ANOMALIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006006"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylocostal Dysostosis, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Closed Head Injuries) AnnotationAssertion(Annotation( "MESH:D016489"^^xsd:string) "Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and DURA MATER. This frequently results in mechanical injury being transmitted to intracranial structures which may produce TRAUMATIC BRAIN INJURIES, hemorrhage, or CRANIAL NERVE INJURIES. (From Rowland, Merritt's Textbook of Neurology, 9th ed, p417)"^^xsd:string) AnnotationAssertion( "MESH:D016489"^^xsd:string) AnnotationAssertion( "Blunt Head Injuries"^^xsd:string) AnnotationAssertion( "Blunt Head Injury"^^xsd:string) AnnotationAssertion( "Closed Head Injury"^^xsd:string) AnnotationAssertion( "Closed Head Trauma"^^xsd:string) AnnotationAssertion( "Closed Head Traumas"^^xsd:string) AnnotationAssertion( "Nonpenetrating Head Injuries"^^xsd:string) AnnotationAssertion( "Nonpenetrating Head Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006008"^^xsd:string) AnnotationAssertion(rdfs:label "Closed Head Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neonatal Hypoglycemia, Simulating Foetopathia Diabetica) AnnotationAssertion( "MESH:C565484"^^xsd:string) AnnotationAssertion( "Neonatal Hypoglycemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006009"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Hypoglycemia, Simulating Foetopathia Diabetica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gingival Hyperplasia) AnnotationAssertion(Annotation( "MESH:D005885"^^xsd:string) "Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)"^^xsd:string) AnnotationAssertion( "MESH:D005885"^^xsd:string) AnnotationAssertion( "Gingival Hyperplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006010"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Hyperplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly with Spastic Quadriplegia) AnnotationAssertion( "MESH:C537546"^^xsd:string) AnnotationAssertion( "RDO:0003405"^^xsd:string) AnnotationAssertion( "Recessive microcephaly with spastic quadriplegia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006012"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Spastic Quadriplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hematoma) AnnotationAssertion(Annotation( "MESH:D006406"^^xsd:string) "A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue."^^xsd:string) AnnotationAssertion( "EFO:0010680"^^xsd:string) AnnotationAssertion( "MESH:D006406"^^xsd:string) AnnotationAssertion( "Hematomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006013"^^xsd:string) AnnotationAssertion(rdfs:label "Hematoma"^^xsd:string) SubClassOf( ) # Class: (Peritoneal Adhesions) AnnotationAssertion( "Pathological processes consisting of the union of the opposing surfaces of a wound or irritated areas in the peritoneum."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001183"^^xsd:string) AnnotationAssertion( "peritoneal adhesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006014"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Adhesions"^^xsd:string) SubClassOf( ) # Class: (Posterior Lumbosacral Vertebral Fusion with Blepharoptosis) AnnotationAssertion( "MIM:192800"^^xsd:string) AnnotationAssertion( "MESH:C536344"^^xsd:string) AnnotationAssertion( "Congenital ptosis and posterior fusion of lumbosacral vertebrae"^^xsd:string) AnnotationAssertion( "Familial posterior lumbosacral vertebral fusion and eyelid ptosis"^^xsd:string) AnnotationAssertion( "Posterior Lumbosacral Vertebral Fusion, Blepharoptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006015"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Lumbosacral Vertebral Fusion with Blepharoptosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS) AnnotationAssertion(Annotation( "MIM:618875"^^xsd:string) "An autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcification."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-17T17:48:15Z"^^xsd:string) AnnotationAssertion( "MIM:618875"^^xsd:string) AnnotationAssertion( "MONDO:0030033"^^xsd:string) AnnotationAssertion( "SENEBAC"^^xsd:string) AnnotationAssertion( "early-onset seizures with neurodegeneration and brain calcifications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006016"^^xsd:string) AnnotationAssertion(rdfs:label "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 5) AnnotationAssertion( "MIM:227240"^^xsd:string) AnnotationAssertion( "MESH:C567119"^^xsd:string) AnnotationAssertion( "SHEP5"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 5, Black-Nonblack Hair"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 5, Dark-Fair Skin"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 5, Dark-Light Eyes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006017"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gollop Coates Syndrome) AnnotationAssertion( "MESH:C537283"^^xsd:string) AnnotationAssertion( "RDO:0003098"^^xsd:string) AnnotationAssertion( "Bifurcation of distal humerus with oligoectro-syndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006018"^^xsd:string) AnnotationAssertion(rdfs:label "Gollop Coates Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frias Syndrome) AnnotationAssertion( "MIM:609640"^^xsd:string) AnnotationAssertion( "MESH:C535639"^^xsd:string) AnnotationAssertion( "CHROMOSOME 14q22 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Growth Deficiency, Facial Anomalies, And Brachydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006019"^^xsd:string) AnnotationAssertion(rdfs:label "Frias Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pyknoachondrogenesis) AnnotationAssertion( "MIM:265880"^^xsd:string) AnnotationAssertion( "MESH:C536251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006020"^^xsd:string) AnnotationAssertion(rdfs:label "Pyknoachondrogenesis"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 107) AnnotationAssertion(Annotation( "MIM:619986"^^xsd:string) "An autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. Conferred by heterozygous mutation in the OTULIN gene on chromosome 5p15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-15T10:07:41Z"^^xsd:string) AnnotationAssertion( "MIM:619986"^^xsd:string) AnnotationAssertion( "IMD107"^^xsd:string) AnnotationAssertion( "Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006021"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 107"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gingival Fibromatosis with Distinctive Facies) AnnotationAssertion( "MIM:228560"^^xsd:string) AnnotationAssertion( "MESH:C565567"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006022"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis with Distinctive Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 89) AnnotationAssertion(Annotation( "MIM:620705"^^xsd:string) "A disease characterized by male infertility due to severely reduced progressive motility of sperm. Caused by homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-12T10:12:19Z"^^xsd:string) AnnotationAssertion( "MIM:620705"^^xsd:string) AnnotationAssertion( "SPGF89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006023"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 89"^^xsd:string) SubClassOf( ) # Class: (Hypotension) AnnotationAssertion(Annotation( "MESH:D007022"^^xsd:string) "Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients."^^xsd:string) AnnotationAssertion( "EFO:0005251"^^xsd:string) AnnotationAssertion( "EFO:0005254"^^xsd:string) AnnotationAssertion( "MESH:D007022"^^xsd:string) AnnotationAssertion( "Low Blood Pressure"^^xsd:string) AnnotationAssertion( "Vascular Hypotension"^^xsd:string) AnnotationAssertion( "neurally mediated hypotension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006024"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotension"^^xsd:string) SubClassOf( ) # Class: (Diaminopentanuria) AnnotationAssertion( "MIM:222350"^^xsd:string) AnnotationAssertion( "MESH:C565630"^^xsd:string) AnnotationAssertion( "Cystine-Lysinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006025"^^xsd:string) AnnotationAssertion(rdfs:label "Diaminopentanuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Jejunal Atresia with Renal Adysplasia) AnnotationAssertion( "MIM:602551"^^xsd:string) AnnotationAssertion( "RDO:0003430"^^xsd:string) AnnotationAssertion( "MESH:C537567"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006026"^^xsd:string) AnnotationAssertion(rdfs:label "Jejunal Atresia with Renal Adysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pfeiffer Rockelein Syndrome) AnnotationAssertion( "MESH:C537890"^^xsd:string) AnnotationAssertion( "Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006027"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer Rockelein Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mammary-Digital-Nail Syndrome) AnnotationAssertion( "MIM:613689"^^xsd:string) AnnotationAssertion( "MDNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006028"^^xsd:string) AnnotationAssertion(rdfs:label "Mammary-Digital-Nail Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting) AnnotationAssertion( "MIM:605856"^^xsd:string) AnnotationAssertion( "MESH:C566989"^^xsd:string) AnnotationAssertion( "short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006029"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infant Death) AnnotationAssertion(Annotation( "MESH:D066088"^^xsd:string) "The death of a live-born INFANT within its first year of life."^^xsd:string) AnnotationAssertion( "MESH:D066088"^^xsd:string) AnnotationAssertion( "RDO:0015956"^^xsd:string) AnnotationAssertion( "DEATH IN INFANCY"^^xsd:string) AnnotationAssertion( "Infant Deaths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006030"^^xsd:string) AnnotationAssertion(rdfs:label "Infant Death"^^xsd:string) SubClassOf( ) # Class: (Abdominal Fibromatosis) AnnotationAssertion(Annotation( "MESH:D018221"^^xsd:string) "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001325"^^xsd:string) AnnotationAssertion( "MESH:D018221"^^xsd:string) AnnotationAssertion( "Abdominal Fibromatoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006031"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Fibromatosis"^^xsd:string) SubClassOf( ) # Class: (NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE) AnnotationAssertion(Annotation( "MIM:168885"^^xsd:string) "This disease is characterized by daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development."^^xsd:string) AnnotationAssertion( "MIM:168885"^^xsd:string) AnnotationAssertion( "MESH:C566817"^^xsd:string) AnnotationAssertion( "Benign Childhood Paroxysmal Tonic Upgaze with Ataxia"^^xsd:string) AnnotationAssertion( "NOC2"^^xsd:string) AnnotationAssertion( "PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006032"^^xsd:string) AnnotationAssertion(rdfs:label "NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects) AnnotationAssertion( "MIM:603394"^^xsd:string) AnnotationAssertion( "MESH:C566377"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006033"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism, Type IIC) AnnotationAssertion( "MIM:614492"^^xsd:string) AnnotationAssertion( "RDO:0013211"^^xsd:string) AnnotationAssertion( "MESH:C564162"^^xsd:string) AnnotationAssertion( "PHA2C"^^xsd:string) AnnotationAssertion( "pseudohypoaldosteronism type 2C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006034"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism, Type IIC"^^xsd:string) SubClassOf( ) # Class: (Factor VIII Deficiency, Acquired) AnnotationAssertion( "RDO:0001962"^^xsd:string) AnnotationAssertion( "MESH:C536392"^^xsd:string) AnnotationAssertion( "factor 8 deficiency, acquired"^^xsd:string) AnnotationAssertion( "hemophilia A, acquired"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006035"^^xsd:string) AnnotationAssertion(rdfs:label "Factor VIII Deficiency, Acquired"^^xsd:string) SubClassOf( ) # Class: (Auriculocondylar Syndrome 2) AnnotationAssertion( "MIM:614669"^^xsd:string) AnnotationAssertion( "MIM:620458"^^xsd:string) AnnotationAssertion( "ARCND2"^^xsd:string) AnnotationAssertion( "ARCND2A"^^xsd:string) AnnotationAssertion( "ARCND2B"^^xsd:string) AnnotationAssertion( "auriculocondylar syndrome 2A"^^xsd:string) AnnotationAssertion( "auriculocondylar syndrome 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006036"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculocondylar Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Ectrodactyly-Polydactyly) AnnotationAssertion( "MIM:225290"^^xsd:string) AnnotationAssertion( "MESH:C565601"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006037"^^xsd:string) AnnotationAssertion(rdfs:label "Ectrodactyly-Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Amebic Dysentery) AnnotationAssertion(Annotation( "MESH:D004404"^^xsd:string) "DYSENTERY caused by intestinal amebic infection, chiefly with ENTAMOEBA HISTOLYTICA. This condition may be associated with amebic infection of the LIVER and other distant sites."^^xsd:string) AnnotationAssertion( "MESH:D004404"^^xsd:string) AnnotationAssertion( "Amebic Colitides"^^xsd:string) AnnotationAssertion( "Amebic Colitis"^^xsd:string) AnnotationAssertion( "Amebic Dysenteries"^^xsd:string) AnnotationAssertion( "Amoebic Colitides"^^xsd:string) AnnotationAssertion( "Amoebic Colitis"^^xsd:string) AnnotationAssertion( "Amoebic Dysenteries"^^xsd:string) AnnotationAssertion( "Amoebic Dysentery"^^xsd:string) AnnotationAssertion( "Intestinal Amebiases"^^xsd:string) AnnotationAssertion( "Intestinal Amebiasis"^^xsd:string) AnnotationAssertion( "Intestinal Amoebiases"^^xsd:string) AnnotationAssertion( "Intestinal Amoebiasis"^^xsd:string) AnnotationAssertion( "Intestinal Entamoebiases"^^xsd:string) AnnotationAssertion( "Intestinal Entamoebiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006038"^^xsd:string) AnnotationAssertion(rdfs:label "Amebic Dysentery"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ageusia) AnnotationAssertion(Annotation( "MESH:D000370"^^xsd:string) "Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS."^^xsd:string) AnnotationAssertion( "EFO:1001758"^^xsd:string) AnnotationAssertion( "MESH:D000370"^^xsd:string) AnnotationAssertion( "Hypogeusia"^^xsd:string) AnnotationAssertion( "Hypogeusias"^^xsd:string) AnnotationAssertion( "Hysterical Ageusia"^^xsd:string) AnnotationAssertion( "Hysterical Ageusias"^^xsd:string) AnnotationAssertion( "Taste Blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006039"^^xsd:string) AnnotationAssertion(rdfs:label "Ageusia"^^xsd:string) SubClassOf( ) # Class: (Sinonasal Neoplasms) AnnotationAssertion( "A benign or malignant tumor of the nasal cavity and paranasal sinuses."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006040"^^xsd:string) AnnotationAssertion(rdfs:label "Sinonasal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Osteoarthritis, Hip) AnnotationAssertion(Annotation( "MESH:D015207"^^xsd:string) "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion."^^xsd:string) AnnotationAssertion( "EFO:1000786"^^xsd:string) AnnotationAssertion( "MESH:D015207"^^xsd:string) AnnotationAssertion( "RDO:0006850"^^xsd:string) AnnotationAssertion( "Coxarthroses"^^xsd:string) AnnotationAssertion( "Coxarthrosis"^^xsd:string) AnnotationAssertion( "Hip Osteoarthritides"^^xsd:string) AnnotationAssertion( "Osteoarthritis Of Hip"^^xsd:string) AnnotationAssertion( "Osteoarthritis Of Hips"^^xsd:string) AnnotationAssertion( "OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006041"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoarthritis, Hip"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Erythrocyte Amp Deaminase Deficiency) AnnotationAssertion( "MIM:612874"^^xsd:string) AnnotationAssertion( "MESH:C567878"^^xsd:string) AnnotationAssertion( "RDO:0015768"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006043"^^xsd:string) AnnotationAssertion(rdfs:label "Erythrocyte Amp Deaminase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Microvillus Inclusion Disease 2) AnnotationAssertion( "A congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T13:36:31Z"^^xsd:string) AnnotationAssertion( "MIM:619445"^^xsd:string) AnnotationAssertion( "DIAR12"^^xsd:string) AnnotationAssertion( "MVID2"^^xsd:string) AnnotationAssertion( "diarrhea 12 with microvillus atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006044"^^xsd:string) AnnotationAssertion(rdfs:label "Microvillus Inclusion Disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dissecting Aneurysm) AnnotationAssertion(Annotation( "MESH:D000784"^^xsd:string) "An aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation."^^xsd:string) AnnotationAssertion( "RDO:0004842"^^xsd:string) AnnotationAssertion( "MESH:D000784"^^xsd:string) AnnotationAssertion( "Blood Vessel Dissection"^^xsd:string) AnnotationAssertion( "Dissecting Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006045"^^xsd:string) AnnotationAssertion(rdfs:label "Dissecting Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Voice Disorders) AnnotationAssertion(Annotation( "MESH:D014832"^^xsd:string) "Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch."^^xsd:string) AnnotationAssertion( "EFO:0009692"^^xsd:string) AnnotationAssertion( "MESH:D014832"^^xsd:string) AnnotationAssertion( "Neurologic Voice Disorder"^^xsd:string) AnnotationAssertion( "Neurologic Voice Disorders"^^xsd:string) AnnotationAssertion( "Voice Disorder"^^xsd:string) AnnotationAssertion( "Voice Disturbance"^^xsd:string) AnnotationAssertion( "Voice Disturbances"^^xsd:string) AnnotationAssertion( "Voice Fatigue"^^xsd:string) AnnotationAssertion( "Voice Fatigues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006046"^^xsd:string) AnnotationAssertion(rdfs:label "Voice Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Breast Cancer 3) AnnotationAssertion( "RDO:0014003"^^xsd:string) AnnotationAssertion( "EFO:0009443"^^xsd:string) AnnotationAssertion( "MESH:C565336"^^xsd:string) AnnotationAssertion( "BRCA3"^^xsd:string) AnnotationAssertion( "BRCAX"^^xsd:string) AnnotationAssertion( "BRCAX breast cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006047"^^xsd:string) AnnotationAssertion(rdfs:label "Breast Cancer 3"^^xsd:string) SubClassOf( ) # Class: (Major Affective Disorder 7) AnnotationAssertion( "MIM:612371"^^xsd:string) AnnotationAssertion( "MESH:C567529"^^xsd:string) AnnotationAssertion( "MAFD7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006048"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 7"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:620292"^^xsd:string) "This disease is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-04T09:46:32Z"^^xsd:string) AnnotationAssertion( "MIM:620292"^^xsd:string) AnnotationAssertion( "NEDLBAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006049"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (undifferentiated sarcoma) AnnotationAssertion(Annotation( "NCI:C121793"^^xsd:string) "This a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-24T15:04:30Z"^^xsd:string) AnnotationAssertion( "EFO:0000730"^^xsd:string) AnnotationAssertion( "USTS"^^xsd:string) AnnotationAssertion( "Unclassified Soft Tissue Sarcoma"^^xsd:string) AnnotationAssertion( "Undifferentiated Soft Tissue Sarcoma"^^xsd:string) AnnotationAssertion( "Undifferentiated/Unclassified Sarcoma"^^xsd:string) AnnotationAssertion( "Undifferentiated/Unclassified Soft Tissue Sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006050"^^xsd:string) AnnotationAssertion(rdfs:label "undifferentiated sarcoma"^^xsd:string) SubClassOf( ) # Class: (Alzheimer's Disease, Familial, 3, with Spastic Paraparesis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-05-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "Alzheimer disease 3, with spastic paraparesis"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 3, with spastic paraparesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006051"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's Disease, Familial, 3, with Spastic Paraparesis"^^xsd:string) SubClassOf( ) # Class: (Tooth Discoloration) AnnotationAssertion(Annotation( "MESH:D014075"^^xsd:string) "Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)"^^xsd:string) AnnotationAssertion( "MESH:D014075"^^xsd:string) AnnotationAssertion( "Tooth Discolorations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006052"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Discoloration"^^xsd:string) SubClassOf( ) # Class: (Vasa Previa) AnnotationAssertion(Annotation( "MESH:D055949"^^xsd:string) "Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination."^^xsd:string) AnnotationAssertion( "MESH:D055949"^^xsd:string) AnnotationAssertion( "Vasa Praevia"^^xsd:string) AnnotationAssertion( "Vasa Praevias"^^xsd:string) AnnotationAssertion( "Vasa Previas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006053"^^xsd:string) AnnotationAssertion(rdfs:label "Vasa Previa"^^xsd:string) SubClassOf( ) # Class: (Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia) AnnotationAssertion( "MIM:609324"^^xsd:string) AnnotationAssertion( "MESH:C563736"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006054"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Metaphyseal Chondrodysplasia, Kaitila Type) AnnotationAssertion( "MIM:250230"^^xsd:string) AnnotationAssertion( "MESH:C565400"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006055"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia, Kaitila Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Tracheobronchial Stenosis) AnnotationAssertion( "MIM:603569"^^xsd:string) AnnotationAssertion( "MESH:C566362"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006057"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Tracheobronchial Stenosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Invasive Fungal Infections) AnnotationAssertion(Annotation( "MESH:D000072742"^^xsd:string) "Mycoses which manifest as infections of deep tissue or blood."^^xsd:string) AnnotationAssertion( "MESH:D000072742"^^xsd:string) AnnotationAssertion( "RDO:0016126"^^xsd:string) AnnotationAssertion( "Invasive Fungal Infection"^^xsd:string) AnnotationAssertion( "Invasive Mycose"^^xsd:string) AnnotationAssertion( "Invasive Mycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006058"^^xsd:string) AnnotationAssertion(rdfs:label "Invasive Fungal Infections"^^xsd:string) SubClassOf( ) # Class: (EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:620820"^^xsd:string) "This is a disease characterized by absent speech, impaired intellectual development, and autism."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-11T10:49:58Z"^^xsd:string) AnnotationAssertion( "MIM:620820"^^xsd:string) AnnotationAssertion( "El Hayek-Chahrour neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "NEDEHC"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006059"^^xsd:string) AnnotationAssertion(rdfs:label "EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cerebral Amyloidosis with Spongiform Encephalopathy) AnnotationAssertion( "MESH:C535800"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS"^^xsd:string) AnnotationAssertion( "prion dementia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006061"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Amyloidosis with Spongiform Encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nervous System Trauma) AnnotationAssertion(Annotation( "MESH:D020196"^^xsd:string) "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures."^^xsd:string) AnnotationAssertion( "EFO:0009490"^^xsd:string) AnnotationAssertion( "MESH:D020196"^^xsd:string) AnnotationAssertion( "Axonotmesis"^^xsd:string) AnnotationAssertion( "Craniocervical Injuries"^^xsd:string) AnnotationAssertion( "Craniocervical Injury"^^xsd:string) AnnotationAssertion( "Nervous System Injuries"^^xsd:string) AnnotationAssertion( "Nervous System Injury"^^xsd:string) AnnotationAssertion( "Nervous System Traumas"^^xsd:string) AnnotationAssertion( "Neurotmeses"^^xsd:string) AnnotationAssertion( "axonotmeses"^^xsd:string) AnnotationAssertion( "neurotmesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006062"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Trauma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Zimmermann-Laband Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-12T11:39:16Z"^^xsd:string) AnnotationAssertion( "MIM:618658"^^xsd:string) AnnotationAssertion( "ZLS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006063"^^xsd:string) AnnotationAssertion(rdfs:label "Zimmermann-Laband Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Pouchitis) AnnotationAssertion(Annotation( "MESH:D019449"^^xsd:string) "Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)."^^xsd:string) AnnotationAssertion( "EFO:0003921"^^xsd:string) AnnotationAssertion( "MESH:D019449"^^xsd:string) AnnotationAssertion( "Pouch Ileitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006064"^^xsd:string) AnnotationAssertion(rdfs:label "Pouchitis"^^xsd:string) SubClassOf( ) # Class: (Arthralgia) AnnotationAssertion(Annotation( "MESH:D018771"^^xsd:string) "Pain in the joint."^^xsd:string) AnnotationAssertion( "MESH:D018771"^^xsd:string) AnnotationAssertion( "Arthralgias"^^xsd:string) AnnotationAssertion( "Joint Pain"^^xsd:string) AnnotationAssertion( "Joint Pains"^^xsd:string) AnnotationAssertion( "Polyarthralgia"^^xsd:string) AnnotationAssertion( "Polyarthralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006065"^^xsd:string) AnnotationAssertion(rdfs:label "Arthralgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Cutaneous Collagenoma) AnnotationAssertion( "MIM:115250"^^xsd:string) AnnotationAssertion( "MESH:C562925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006066"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cutaneous Collagenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness) AnnotationAssertion( "MIM:136600"^^xsd:string) AnnotationAssertion( "MESH:C564999"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006067"^^xsd:string) AnnotationAssertion(rdfs:label "Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Emanuel Syndrome) AnnotationAssertion( "MIM:609029"^^xsd:string) AnnotationAssertion( "MESH:C535733"^^xsd:string) AnnotationAssertion( "RDO:0001016"^^xsd:string) AnnotationAssertion( "22) SYNDROME"^^xsd:string) AnnotationAssertion( "Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events"^^xsd:string) AnnotationAssertion( "SUPERNUMERARY DER(22)t(11"^^xsd:string) AnnotationAssertion( "Supernumary Der(22) Syndrome"^^xsd:string) AnnotationAssertion( "Supernumary Der(22)T(11;22) Syndrome"^^xsd:string) AnnotationAssertion( "Supernumary Derivative 22 Chromosome Syndrome"^^xsd:string) AnnotationAssertion( "Supernumerary der(22) syndrome"^^xsd:string) AnnotationAssertion( "Supernumerary der(22)t(11;22) syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006068"^^xsd:string) AnnotationAssertion(rdfs:label "Emanuel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vaginal melanoma) AnnotationAssertion(Annotation( "NCI:C27394"^^xsd:string) "This is a primary malignant neoplasm of the vagina composed of malignant melanocytes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-15T13:27:39Z"^^xsd:string) AnnotationAssertion( "EFO:1000619"^^xsd:string) AnnotationAssertion( "melanoma of vagina"^^xsd:string) AnnotationAssertion( "vagina melanoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006069"^^xsd:string) AnnotationAssertion(rdfs:label "vaginal melanoma"^^xsd:string) SubClassOf( ) # Class: (Lethal Congenital Erythroderma) AnnotationAssertion( "MIM:227090"^^xsd:string) AnnotationAssertion( "MESH:C535513"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006070"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Congenital Erythroderma"^^xsd:string) SubClassOf( ) # Class: (Spastic Ataxia 10, Autosomal Recessive) AnnotationAssertion(Annotation( "MIM:620666"^^xsd:string) "A slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:29:09Z"^^xsd:string) AnnotationAssertion( "MIM:620666"^^xsd:string) AnnotationAssertion( "SPAX10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006071"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Ataxia 10, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Neurodegeneration with Brain Iron Accumulation 9) AnnotationAssertion(Annotation( "MIM:620669"^^xsd:string) "A disease characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Caused by heterozygous mutation in the FTH1 gene on chromosome 11q12."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:22:00Z"^^xsd:string) AnnotationAssertion( "MIM:620669"^^xsd:string) AnnotationAssertion( "NBIA9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006072"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodegeneration with Brain Iron Accumulation 9"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tabatznik Syndrome) AnnotationAssertion( "MESH:C536784"^^xsd:string) AnnotationAssertion( "RDO:0002474"^^xsd:string) AnnotationAssertion( "Heart-hand syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006074"^^xsd:string) AnnotationAssertion(rdfs:label "Tabatznik Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome) AnnotationAssertion( "FHEIG is caused by heterozygous mutation in the KCNK4 gene on chromosome 11q13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618381"^^xsd:string) AnnotationAssertion( "FHEIG"^^xsd:string) AnnotationAssertion( "KCNK4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006075"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epilepsia Partialis Continua) AnnotationAssertion(Annotation( "MESH:D017036"^^xsd:string) "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)"^^xsd:string) AnnotationAssertion( "EFO:1000924"^^xsd:string) AnnotationAssertion( "MESH:D017036"^^xsd:string) AnnotationAssertion( "Chronic Progressive Epilepsia Partialis Continua"^^xsd:string) AnnotationAssertion( "Kojevnikov Epilepsy"^^xsd:string) AnnotationAssertion( "Kojevnikov's Epilepsies"^^xsd:string) AnnotationAssertion( "Kojevnikov's Epilepsy"^^xsd:string) AnnotationAssertion( "Kojewnikov Epilepsy"^^xsd:string) AnnotationAssertion( "Kojewnikov's Epilepsy"^^xsd:string) AnnotationAssertion( "Kojewnikow Syndrome"^^xsd:string) AnnotationAssertion( "Kojewnikow's Syndrome"^^xsd:string) AnnotationAssertion( "Kozhevnikov Syndrome"^^xsd:string) AnnotationAssertion( "Kozhevnikov's Syndrome"^^xsd:string) AnnotationAssertion( "Kozhevnikow Syndrome, Progressive Variant"^^xsd:string) AnnotationAssertion( "Progressive Variant of Kozhevnikow Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006076"^^xsd:string) AnnotationAssertion(rdfs:label "Epilepsia Partialis Continua"^^xsd:string) SubClassOf( ) # Class: (Martinez-Frias Syndrome) AnnotationAssertion( "MIM:601346"^^xsd:string) AnnotationAssertion( "MESH:C563346"^^xsd:string) AnnotationAssertion( "Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia"^^xsd:string) AnnotationAssertion( "Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006077"^^xsd:string) AnnotationAssertion(rdfs:label "Martinez-Frias Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MHC CLASS I DEFICIENCY 2) AnnotationAssertion(Annotation( "MIM:620813"^^xsd:string) "This disease is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface. This disease has_material_basis_in autosomal recessive inheritance of TAP2."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-18T09:16:43Z"^^xsd:string) AnnotationAssertion( "MIM:620813"^^xsd:string) AnnotationAssertion( "MHC1D2"^^xsd:string) AnnotationAssertion( "TAP2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006078"^^xsd:string) AnnotationAssertion(rdfs:label "MHC CLASS I DEFICIENCY 2"^^xsd:string) SubClassOf( ) # Class: (Inherited Peripheral Neuropathy) AnnotationAssertion( "MESH:C548028"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006079"^^xsd:string) AnnotationAssertion(rdfs:label "Inherited Peripheral Neuropathy"^^xsd:string) SubClassOf( ) # Class: (Acute Retroviral Syndrome) AnnotationAssertion(Annotation( "MESH:D000071297"^^xsd:string) "Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS."^^xsd:string) AnnotationAssertion( "MESH:D000071297"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006080"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Retroviral Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Osteolysis) AnnotationAssertion(Annotation( "MESH:D010014"^^xsd:string) "Dissolution of bone that particularly involves the removal or loss of calcium."^^xsd:string) AnnotationAssertion( "MESH:D010014"^^xsd:string) AnnotationAssertion( "Osteolyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006081"^^xsd:string) AnnotationAssertion(rdfs:label "Osteolysis"^^xsd:string) SubClassOf( ) # Class: (Methionine Malabsorption Syndrome) AnnotationAssertion( "MIM:250900"^^xsd:string) AnnotationAssertion( "MESH:C562682"^^xsd:string) AnnotationAssertion( "Oasthouse Urine Disease"^^xsd:string) AnnotationAssertion( "Smith-Strang Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006082"^^xsd:string) AnnotationAssertion(rdfs:label "Methionine Malabsorption Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fowler Christmas Chapple Syndrome) AnnotationAssertion( "MESH:C537271"^^xsd:string) AnnotationAssertion( "voiding dysfunction and polycystic ovaries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006083"^^xsd:string) AnnotationAssertion(rdfs:label "Fowler Christmas Chapple Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gigantism) AnnotationAssertion(Annotation( "MESH:D005877"^^xsd:string) "The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age."^^xsd:string) AnnotationAssertion( "MESH:D005877"^^xsd:string) AnnotationAssertion( "Pituitary Gigantism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006084"^^xsd:string) AnnotationAssertion(rdfs:label "Gigantism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Megalodactyly) AnnotationAssertion( "MIM:155500"^^xsd:string) AnnotationAssertion( "MESH:C562546"^^xsd:string) AnnotationAssertion( "Macrodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006085"^^xsd:string) AnnotationAssertion(rdfs:label "Megalodactyly"^^xsd:string) SubClassOf( ) # Class: (Intervertebral Disc Displacement) AnnotationAssertion(Annotation( "MESH:D007405"^^xsd:string) "An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region."^^xsd:string) AnnotationAssertion( "EFO:1001800"^^xsd:string) AnnotationAssertion( "MESH:D007405"^^xsd:string) AnnotationAssertion( "Disk Prolapse"^^xsd:string) AnnotationAssertion( "Disk Prolapses"^^xsd:string) AnnotationAssertion( "Herniated Disc"^^xsd:string) AnnotationAssertion( "Herniated Discs"^^xsd:string) AnnotationAssertion( "Herniated Disk"^^xsd:string) AnnotationAssertion( "Herniated Disks"^^xsd:string) AnnotationAssertion( "Intervertebral Disc Displacements"^^xsd:string) AnnotationAssertion( "Intervertebral Disk Displacement"^^xsd:string) AnnotationAssertion( "Intervertebral Disk Displacements"^^xsd:string) AnnotationAssertion( "Prolapsed Disc"^^xsd:string) AnnotationAssertion( "Prolapsed Discs"^^xsd:string) AnnotationAssertion( "Prolapsed Disk"^^xsd:string) AnnotationAssertion( "Prolapsed Disks"^^xsd:string) AnnotationAssertion( "Slipped Disc"^^xsd:string) AnnotationAssertion( "Slipped Discs"^^xsd:string) AnnotationAssertion( "Slipped Disk"^^xsd:string) AnnotationAssertion( "Slipped Disks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006086"^^xsd:string) AnnotationAssertion(rdfs:label "Intervertebral Disc Displacement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skeletal Dysplasia, San Diego Type) AnnotationAssertion( "MESH:C536670"^^xsd:string) AnnotationAssertion( "RDO:0002316"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006087"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Dysplasia, San Diego Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Vascular Leukoencephalopathy) AnnotationAssertion( "MESH:C531642"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006088"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Vascular Leukoencephalopathy"^^xsd:string) SubClassOf( ) # Class: (Opticospinal Multiple Sclerosis) AnnotationAssertion( "MESH:C580329"^^xsd:string) AnnotationAssertion( "Optic-Spinal MS"^^xsd:string) AnnotationAssertion( "Optic-Spinal Multiple Sclerosis"^^xsd:string) AnnotationAssertion( "Opticospinal MS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006089"^^xsd:string) AnnotationAssertion(rdfs:label "Opticospinal Multiple Sclerosis"^^xsd:string) SubClassOf( ) # Class: (Colonic Varices without Portal Hypertension) AnnotationAssertion( "MIM:120440"^^xsd:string) AnnotationAssertion( "MESH:C565172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006090"^^xsd:string) AnnotationAssertion(rdfs:label "Colonic Varices without Portal Hypertension"^^xsd:string) SubClassOf( ) # Class: (Gurrieri Sammito Bellussi Syndrome) AnnotationAssertion( "MIM:601187"^^xsd:string) AnnotationAssertion( "MESH:C537625"^^xsd:string) AnnotationAssertion( "Gurrieri syndrome"^^xsd:string) AnnotationAssertion( "Skeletal dysplasia epilepsy short stature"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006091"^^xsd:string) AnnotationAssertion(rdfs:label "Gurrieri Sammito Bellussi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Irapa Type) AnnotationAssertion( "MIM:271650"^^xsd:string) AnnotationAssertion( "MESH:C562958"^^xsd:string) AnnotationAssertion( "SEMDIT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006092"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Irapa Type"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Conductive Deafness with Malformed External Ear) AnnotationAssertion( "MIM:221300"^^xsd:string) AnnotationAssertion( "MESH:C565644"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006094"^^xsd:string) AnnotationAssertion(rdfs:label "Conductive Deafness with Malformed External Ear"^^xsd:string) SubClassOf( ) # Class: (Ascites) AnnotationAssertion(Annotation( "MESH:D001201"^^xsd:string) "Accumulation or retention of free fluid within the peritoneal cavity."^^xsd:string) AnnotationAssertion( "MESH:D001201"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006095"^^xsd:string) AnnotationAssertion(rdfs:label "Ascites"^^xsd:string) SubClassOf( ) # Class: (Uterine Cervical Dysplasia) AnnotationAssertion(Annotation( "MESH:D002578"^^xsd:string) "Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE."^^xsd:string) AnnotationAssertion( "EFO:1000910"^^xsd:string) AnnotationAssertion( "MESH:D002578"^^xsd:string) AnnotationAssertion( "RDO:0005174"^^xsd:string) AnnotationAssertion( "Cervix Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006096"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Cervical Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sheep Diseases) AnnotationAssertion(Annotation( "MESH:D012757"^^xsd:string) "Diseases of domestic and mountain sheep of the genus Ovis."^^xsd:string) AnnotationAssertion( "MESH:D012757"^^xsd:string) AnnotationAssertion( "Ovine Disease"^^xsd:string) AnnotationAssertion( "Ovine Diseases"^^xsd:string) AnnotationAssertion( "Sheep Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006097"^^xsd:string) AnnotationAssertion(rdfs:label "Sheep Diseases"^^xsd:string) SubClassOf( ) # Class: (Abetalipoproteinemia Neuropathy) AnnotationAssertion( "MESH:C540309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006098"^^xsd:string) AnnotationAssertion(rdfs:label "Abetalipoproteinemia Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (5-Oxoprolinase Deficiency) AnnotationAssertion( "5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:260005"^^xsd:string) AnnotationAssertion( "MESH:C535322"^^xsd:string) AnnotationAssertion( "5-alpha-oxoprolinase deficiency"^^xsd:string) AnnotationAssertion( "OPLAHD"^^xsd:string) AnnotationAssertion( "oxoprolinuria due to 5-oxoprolinase deficiency"^^xsd:string) AnnotationAssertion( "oxoprolinuria due to oxoprolinase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006099"^^xsd:string) AnnotationAssertion(rdfs:label "5-Oxoprolinase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Tang Hsi Ryu Syndrome) AnnotationAssertion( "MESH:C536897"^^xsd:string) AnnotationAssertion( "RDO:0002615"^^xsd:string) AnnotationAssertion( "Ascitis, splenomegaly, lymphadenopathy"^^xsd:string) AnnotationAssertion( "Polyneuropathy hepatosplenomegaly hyperpigmentation"^^xsd:string) AnnotationAssertion( "Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006100"^^xsd:string) AnnotationAssertion(rdfs:label "Tang Hsi Ryu Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Ovarian Failure) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-17T12:38:29Z"^^xsd:string) AnnotationAssertion( "Female hypergonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "Hypergonadotrophic ovarian failure"^^xsd:string) AnnotationAssertion( "Primary female hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006101"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ovarian Failure"^^xsd:string) SubClassOf( ) # Class: (Right Ventricular Hypertrophy) AnnotationAssertion(Annotation( "MESH:D017380"^^xsd:string) "Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality."^^xsd:string) AnnotationAssertion( "RDO:0007043"^^xsd:string) AnnotationAssertion( "MESH:D017380"^^xsd:string) AnnotationAssertion( "Right Ventricular Hypertrophies"^^xsd:string) AnnotationAssertion( "hypertrophy of right ventricle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006102"^^xsd:string) AnnotationAssertion(rdfs:label "Right Ventricular Hypertrophy"^^xsd:string) SubClassOf( ) # Class: (Camptodactyly Joint Contractures and Facial Skeletal Dysplasia) AnnotationAssertion( "MESH:C537969"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006103"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Joint Contractures and Facial Skeletal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Syringomas) AnnotationAssertion( "MIM:186600"^^xsd:string) AnnotationAssertion( "MESH:C566085"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006104"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Syringomas"^^xsd:string) SubClassOf( ) # Class: (Craniomandibular Disorders) AnnotationAssertion(Annotation( "MESH:D017271"^^xsd:string) "Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMANDIBULAR JOINT DISORDERS and TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME."^^xsd:string) AnnotationAssertion( "MESH:D017271"^^xsd:string) AnnotationAssertion( "craniomandibular disease"^^xsd:string) AnnotationAssertion( "craniomandibular diseases"^^xsd:string) AnnotationAssertion( "craniomandibular disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006105"^^xsd:string) AnnotationAssertion(rdfs:label "Craniomandibular Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia Type 5B, Recessive) AnnotationAssertion( "MESH:C536872"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006106"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia Type 5B, Recessive"^^xsd:string) SubClassOf( ) # Class: (Secondary Dentin) AnnotationAssertion(Annotation( "MESH:D003809"^^xsd:string) "Dentin formed by normal pulp after completion of root end formation."^^xsd:string) AnnotationAssertion( "MESH:D003809"^^xsd:string) AnnotationAssertion( "Secondary Dentins"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006107"^^xsd:string) AnnotationAssertion(rdfs:label "Secondary Dentin"^^xsd:string) SubClassOf( ) # Class: (Uniparental Disomy) AnnotationAssertion(Annotation( "MESH:D024182"^^xsd:string) "The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy)."^^xsd:string) AnnotationAssertion( "MESH:D024182"^^xsd:string) AnnotationAssertion( "Uniparental Disomies"^^xsd:string) AnnotationAssertion( "Uniparental Heterodisomies"^^xsd:string) AnnotationAssertion( "Uniparental Heterodisomy"^^xsd:string) AnnotationAssertion( "Uniparental Isodisomies"^^xsd:string) AnnotationAssertion( "Uniparental Isodisomy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006108"^^xsd:string) AnnotationAssertion(rdfs:label "Uniparental Disomy"^^xsd:string) SubClassOf( ) # Class: (Goodman Camptodactyly) AnnotationAssertion( "MIM:201020"^^xsd:string) AnnotationAssertion( "MESH:C537287"^^xsd:string) AnnotationAssertion( "Acrocephalopolysyndactyly Type IV"^^xsd:string) AnnotationAssertion( "Acrocephalopolysyndactyly type 4"^^xsd:string) AnnotationAssertion( "Goodman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006109"^^xsd:string) AnnotationAssertion(rdfs:label "Goodman Camptodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Systemic Venular Insufficiency) AnnotationAssertion( "MIM:192700"^^xsd:string) AnnotationAssertion( "MESH:C566004"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006111"^^xsd:string) AnnotationAssertion(rdfs:label "Systemic Venular Insufficiency"^^xsd:string) SubClassOf( ) # Class: (Mucoepidermoid Tumor) AnnotationAssertion(Annotation( "MESH:D018298"^^xsd:string) "A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)"^^xsd:string) AnnotationAssertion( "EFO:1001049"^^xsd:string) AnnotationAssertion( "MESH:D018298"^^xsd:string) AnnotationAssertion( "MONDO:0003036"^^xsd:string) AnnotationAssertion( "RDO:0007170"^^xsd:string) AnnotationAssertion( "Mucoepidermoid Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006112"^^xsd:string) AnnotationAssertion(rdfs:label "Mucoepidermoid Tumor"^^xsd:string) SubClassOf( ) # Class: (Gallstones) AnnotationAssertion(Annotation( "MESH:D042882"^^xsd:string) "Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin."^^xsd:string) AnnotationAssertion( "EFO:0004210"^^xsd:string) AnnotationAssertion( "MESH:D042882"^^xsd:string) AnnotationAssertion( "Biliary Calculi"^^xsd:string) AnnotationAssertion( "Biliary Calculi, Common Bile Duct"^^xsd:string) AnnotationAssertion( "Common Bile Duct Calculi"^^xsd:string) AnnotationAssertion( "Common Bile Duct Gall Stones"^^xsd:string) AnnotationAssertion( "Common Bile Duct Gallstones"^^xsd:string) AnnotationAssertion( "Gall Stone"^^xsd:string) AnnotationAssertion( "Gall Stones"^^xsd:string) AnnotationAssertion( "Gallstone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006113"^^xsd:string) AnnotationAssertion(rdfs:label "Gallstones"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bird Diseases) AnnotationAssertion(Annotation( "MESH:D001715"^^xsd:string) "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc."^^xsd:string) AnnotationAssertion( "MESH:D001715"^^xsd:string) AnnotationAssertion( "Avian Disease"^^xsd:string) AnnotationAssertion( "Avian Diseases"^^xsd:string) AnnotationAssertion( "Bird Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006114"^^xsd:string) AnnotationAssertion(rdfs:label "Bird Diseases"^^xsd:string) SubClassOf( ) # Class: (Dyskinesia with Orofacial Involvement, Autosomal Dominant) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-07T14:19:05Z"^^xsd:string) AnnotationAssertion( "MIM:606703"^^xsd:string) AnnotationAssertion( "DSKOD"^^xsd:string) AnnotationAssertion( "dyskinesia with orofacial involvement, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006115"^^xsd:string) AnnotationAssertion(rdfs:label "Dyskinesia with Orofacial Involvement, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Low Vision) AnnotationAssertion(Annotation( "MESH:D015354"^^xsd:string) "Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.)."^^xsd:string) AnnotationAssertion( "MESH:D015354"^^xsd:string) AnnotationAssertion( "diminished vision"^^xsd:string) AnnotationAssertion( "reduced vision"^^xsd:string) AnnotationAssertion( "subnormal vision"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006117"^^xsd:string) AnnotationAssertion(rdfs:label "Low Vision"^^xsd:string) SubClassOf( ) # Class: (Amyloid Angiopathy) AnnotationAssertion( "MESH:C538248"^^xsd:string) AnnotationAssertion( "RDO:0004199"^^xsd:string) AnnotationAssertion( "Amyloidosis - cerebral"^^xsd:string) AnnotationAssertion( "Senile cerebral amyloid angiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006118"^^xsd:string) AnnotationAssertion(rdfs:label "Amyloid Angiopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Absent Patella) AnnotationAssertion( "MIM:168860"^^xsd:string) AnnotationAssertion( "MESH:C535568"^^xsd:string) AnnotationAssertion( "RDO:0000764"^^xsd:string) AnnotationAssertion( "Familial absence of the patella"^^xsd:string) AnnotationAssertion( "Familial aplasia of the patella"^^xsd:string) AnnotationAssertion( "PTLAH"^^xsd:string) AnnotationAssertion( "Patella aplasia-hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006120"^^xsd:string) AnnotationAssertion(rdfs:label "Absent Patella"^^xsd:string) SubClassOf( ) # Class: (Infantile Apparent Life-Threatening Event) AnnotationAssertion(Annotation( "MESH:D057768"^^xsd:string) "An event experienced by an infant or a child that is characterized by some combination of apnea, color change, change in muscle tone, choking, and gagging."^^xsd:string) AnnotationAssertion( "MESH:D057768"^^xsd:string) AnnotationAssertion( "RDO:0007792"^^xsd:string) AnnotationAssertion( "Idiopathic Apparent Life Threatening Event"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006121"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Apparent Life-Threatening Event"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rokitansky-Aschoff Sinuses of the Gallbladder) AnnotationAssertion( "MESH:C535869"^^xsd:string) AnnotationAssertion( "Intramural diverticulosis of the gallbladder"^^xsd:string) AnnotationAssertion( "Rokitansky-Aschoff sinuses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006122"^^xsd:string) AnnotationAssertion(rdfs:label "Rokitansky-Aschoff Sinuses of the Gallbladder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Complex III Deficiency Nuclear Type 11) AnnotationAssertion(Annotation( "MIM:620137"^^xsd:string) "An autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy. Caused by homozygous mutation in the UQCRH gene on chromosome 1p33."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-29T07:53:53Z"^^xsd:string) AnnotationAssertion( "MIM:620137"^^xsd:string) AnnotationAssertion( "MC3DN11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006123"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex III Deficiency Nuclear Type 11"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Albinism Deafness Syndrome) AnnotationAssertion( "MIM:300700"^^xsd:string) AnnotationAssertion( "RDO:0002800"^^xsd:string) AnnotationAssertion( "MESH:C537042"^^xsd:string) AnnotationAssertion( "ADFN"^^xsd:string) AnnotationAssertion( "ALDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006124"^^xsd:string) AnnotationAssertion(rdfs:label "Albinism Deafness Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myopia 15) AnnotationAssertion( "MIM:612717"^^xsd:string) AnnotationAssertion( "MESH:C567193"^^xsd:string) AnnotationAssertion( "MYOPIA 15, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006125"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 15"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features) AnnotationAssertion( "MIM:612948"^^xsd:string) AnnotationAssertion( "MESH:C548086"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006127"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kilquist Syndrome) AnnotationAssertion( "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-10T14:20:20Z"^^xsd:string) AnnotationAssertion( "MIM:619080"^^xsd:string) AnnotationAssertion( "KILQS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006128"^^xsd:string) AnnotationAssertion(rdfs:label "Kilquist Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques) AnnotationAssertion( "MESH:C564329"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, 3, with unusual plaques"^^xsd:string) AnnotationAssertion( "Alzheimer disease, familial, with spastic paraparesis and unusual plaques"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006129"^^xsd:string) AnnotationAssertion(rdfs:label "Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, X-Linked 1) AnnotationAssertion( "MIM:300147"^^xsd:string) AnnotationAssertion( "HPCX1"^^xsd:string) AnnotationAssertion( "PCSX"^^xsd:string) AnnotationAssertion( "PROSTATE CANCER SUSCEPTIBILITY, X-LINKED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006130"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, X-Linked 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Genoa Syndrome) AnnotationAssertion( "MIM:601370"^^xsd:string) AnnotationAssertion( "GARD:2454"^^xsd:string) AnnotationAssertion( "MESH:C537684"^^xsd:string) AnnotationAssertion( "MONDO:0011059"^^xsd:string) AnnotationAssertion( "ORDO:2163"^^xsd:string) AnnotationAssertion( "Camera Lituania Cohen syndrome"^^xsd:string) AnnotationAssertion( "Holoprosencephaly craniosynostosis"^^xsd:string) AnnotationAssertion( "Semilobar holoprosencephaly and primary craniosynostosis"^^xsd:string) AnnotationAssertion( "Semilobar holoprosencephaly with craniosynostosis"^^xsd:string) AnnotationAssertion( "holoprosencephaly-craniosynostosis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006131"^^xsd:string) AnnotationAssertion(rdfs:label "Genoa Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bresheck/Bresek Syndrome) AnnotationAssertion( "MESH:C564519"^^xsd:string) AnnotationAssertion( "Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia"^^xsd:string) AnnotationAssertion( "Bresek Syndrome"^^xsd:string) AnnotationAssertion( "Bresheck Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006132"^^xsd:string) AnnotationAssertion(rdfs:label "Bresheck/Bresek Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Odontogenic Tumors) AnnotationAssertion(Annotation( "MESH:D009808"^^xsd:string) "Neoplasms produced from tooth-forming tissues."^^xsd:string) AnnotationAssertion( "EFO:1000492"^^xsd:string) AnnotationAssertion( "MESH:D009808"^^xsd:string) AnnotationAssertion( "Dental Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "Dental Tissue Neoplasms"^^xsd:string) AnnotationAssertion( "Odontogenic Tumor"^^xsd:string) AnnotationAssertion( "Primary Intraosseous Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006134"^^xsd:string) AnnotationAssertion(rdfs:label "Odontogenic Tumors"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Peripapillary Atrophy, Beta Type) AnnotationAssertion( "MIM:611650"^^xsd:string) AnnotationAssertion( "MESH:C566898"^^xsd:string) AnnotationAssertion( "Beta-PPA"^^xsd:string) AnnotationAssertion( "Peripapillary Chorioretinal Atrophy, Beta Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006136"^^xsd:string) AnnotationAssertion(rdfs:label "Peripapillary Atrophy, Beta Type"^^xsd:string) SubClassOf( ) # Class: (Renal Tubular Dysgenesis) AnnotationAssertion( "This disease is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder."^^xsd:string) AnnotationAssertion( "DOID:9006774"^^xsd:string) AnnotationAssertion( "REN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537048"^^xsd:string) AnnotationAssertion( "MIM:267430"^^xsd:string) AnnotationAssertion( "Allanson Pantzar McLeod Syndrome"^^xsd:string) AnnotationAssertion( "Primitive renal tubule syndrome"^^xsd:string) AnnotationAssertion( "RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN"^^xsd:string) AnnotationAssertion( "RTD"^^xsd:string) AnnotationAssertion( "Renal tubular dysgenesis"^^xsd:string) AnnotationAssertion( "Renotubular dysgenesis"^^xsd:string) AnnotationAssertion( "autosomal recessive renal tubular dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006137"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Tubular Dysgenesis"^^xsd:string) SubClassOf( ) # Class: (Laminopathies) AnnotationAssertion( "Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:D000083083"^^xsd:string) AnnotationAssertion( "laminopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006138"^^xsd:string) AnnotationAssertion(rdfs:label "Laminopathies"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 89 and Autoimmunity) AnnotationAssertion(Annotation( "MIM:619632"^^xsd:string) "An autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. Caused by homozygous mutation in the CARD10 gene on chromosome 22q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-30T10:43:37Z"^^xsd:string) AnnotationAssertion( "MIM:619632"^^xsd:string) AnnotationAssertion( "IMD89"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006139"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 89 and Autoimmunity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617527"^^xsd:string) AnnotationAssertion( "NDMSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006140"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Childhood Absence Epilepsy 5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-25T08:10:18Z"^^xsd:string) AnnotationAssertion( "MIM:612269"^^xsd:string) AnnotationAssertion( "ECA5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5"^^xsd:string) AnnotationAssertion( "DOID:9006141"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Absence Epilepsy 5"^^xsd:string) SubClassOf( ) # Class: (Palmer Pagon Syndrome) AnnotationAssertion( "MESH:C538107"^^xsd:string) AnnotationAssertion( "RDO:0004039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006142"^^xsd:string) AnnotationAssertion(rdfs:label "Palmer Pagon Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 121) AnnotationAssertion(Annotation( "MIM:620551"^^xsd:string) "A disease characterized by congenital or prelingual moderate sensorineural hearing loss. Caused by homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-30T09:37:31Z"^^xsd:string) AnnotationAssertion( "MIM:620551"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 121"^^xsd:string) AnnotationAssertion( "DFNB121"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006143"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 121"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Heart Defects, Multiple Types, 9) AnnotationAssertion(Annotation( "MIM:620294"^^xsd:string) "A disease characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. Caused by homozygous or compound heterozygous mutation in the PLXND1 gene on chromosome 3q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T08:28:41Z"^^xsd:string) AnnotationAssertion( "MIM:620294"^^xsd:string) AnnotationAssertion( "CHTD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006145"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 9"^^xsd:string) SubClassOf( ) # Class: (Ovarian Hyperandrogenism) AnnotationAssertion( "This involves increased production of androgens by the ovaries."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-25T14:29:09Z"^^xsd:string) AnnotationAssertion( "EFO:0009008"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006146"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Hyperandrogenism"^^xsd:string) SubClassOf( ) # Class: (Lactose Intolerance, Adult Type) AnnotationAssertion( "MIM:223100"^^xsd:string) AnnotationAssertion( "EFO:1000063"^^xsd:string) AnnotationAssertion( "MESH:C562601"^^xsd:string) AnnotationAssertion( "RDO:0012245"^^xsd:string) AnnotationAssertion( "Adult Lactase Deficiency"^^xsd:string) AnnotationAssertion( "Disaccharide Intolerance III"^^xsd:string) AnnotationAssertion( "Hypolactasia, Adult Type"^^xsd:string) AnnotationAssertion( "DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006147"^^xsd:string) AnnotationAssertion(rdfs:label "Lactose Intolerance, Adult Type"^^xsd:string) SubClassOf( ) # Class: (King's Evil) AnnotationAssertion(Annotation( "MESH:D018601"^^xsd:string) "The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name 'king's evil', and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed)"^^xsd:string) AnnotationAssertion( "RDO:0007221"^^xsd:string) AnnotationAssertion( "MESH:D018601"^^xsd:string) AnnotationAssertion( "Kings Evil"^^xsd:string) AnnotationAssertion( "Kings Evils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006148"^^xsd:string) AnnotationAssertion(rdfs:label "King's Evil"^^xsd:string) SubClassOf( ) # Class: (Chromosome 14q, Proximal Duplication) AnnotationAssertion( "MESH:C538032"^^xsd:string) AnnotationAssertion( "Duplication 14q proximal"^^xsd:string) AnnotationAssertion( "Trisomy 14q proximal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006149"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14q, Proximal Duplication"^^xsd:string) SubClassOf( ) # Class: (Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2) AnnotationAssertion( "MESH:C563712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006150"^^xsd:string) AnnotationAssertion(rdfs:label "Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2"^^xsd:string) SubClassOf( ) # Class: (Choroidal Neovascularization, Experimental) AnnotationAssertion( "Choroidal neovascularization that is induced in experimental animals by use of laser, hypoxia, or chemical injury."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000349"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006151"^^xsd:string) AnnotationAssertion(rdfs:label "Choroidal Neovascularization, Experimental"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Enuresis, Nocturnal, 2) AnnotationAssertion( "MIM:600808"^^xsd:string) AnnotationAssertion( "MESH:C563439"^^xsd:string) AnnotationAssertion( "RDO:0012695"^^xsd:string) AnnotationAssertion( "ENUR2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006152"^^xsd:string) AnnotationAssertion(rdfs:label "Enuresis, Nocturnal, 2"^^xsd:string) SubClassOf( ) # Class: (Glycogen Storage Disease XII) AnnotationAssertion( "MIM:611881"^^xsd:string) AnnotationAssertion( "MESH:C562718"^^xsd:string) AnnotationAssertion( "ALDOA Deficiency"^^xsd:string) AnnotationAssertion( "Aldolase A Deficiency"^^xsd:string) AnnotationAssertion( "GSD XII"^^xsd:string) AnnotationAssertion( "GSD12"^^xsd:string) AnnotationAssertion( "Red Cell Aldolase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006153"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease XII"^^xsd:string) SubClassOf( ) # Class: (Accessory Atrioventricular Bundle) AnnotationAssertion(Annotation( "MESH:D058606"^^xsd:string) "Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES."^^xsd:string) AnnotationAssertion( "MESH:D058606"^^xsd:string) AnnotationAssertion( "RDO:0007842"^^xsd:string) AnnotationAssertion( "Accessory Atrioventricular Bundles"^^xsd:string) AnnotationAssertion( "Accessory Atrioventricular Pathway"^^xsd:string) AnnotationAssertion( "Accessory Atrioventricular Pathways"^^xsd:string) AnnotationAssertion( "Accessory Conducting Pathway"^^xsd:string) AnnotationAssertion( "Accessory Conducting Pathways"^^xsd:string) AnnotationAssertion( "Atrio Hisian Bypass Tract"^^xsd:string) AnnotationAssertion( "Atrio-Hisian Bypass Tracts"^^xsd:string) AnnotationAssertion( "Atriohisian Fiber"^^xsd:string) AnnotationAssertion( "Atriohisian Fibers"^^xsd:string) AnnotationAssertion( "Atriohisian Tract"^^xsd:string) AnnotationAssertion( "Atriohisian Tracts"^^xsd:string) AnnotationAssertion( "Bundle of Kent"^^xsd:string) AnnotationAssertion( "Concealed Accessory Pathway"^^xsd:string) AnnotationAssertion( "Concealed Accessory Pathways"^^xsd:string) AnnotationAssertion( "Fasciculoventricular Accessory Pathway"^^xsd:string) AnnotationAssertion( "Fasciculoventricular Accessory Pathways"^^xsd:string) AnnotationAssertion( "Fasciculoventricular Pathway"^^xsd:string) AnnotationAssertion( "Fasciculoventricular Pathways"^^xsd:string) AnnotationAssertion( "James Fibers"^^xsd:string) AnnotationAssertion( "Kent Bundle"^^xsd:string) AnnotationAssertion( "Mahaim Fibers"^^xsd:string) AnnotationAssertion( "Nodoventricular Accessory Pathway"^^xsd:string) AnnotationAssertion( "Nodoventricular Accessory Pathways"^^xsd:string) AnnotationAssertion( "Nodoventricular Pathway"^^xsd:string) AnnotationAssertion( "Nodoventricular Pathways"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006154"^^xsd:string) AnnotationAssertion(rdfs:label "Accessory Atrioventricular Bundle"^^xsd:string) SubClassOf( ) # Class: (Amniotic Fluid Embolism) AnnotationAssertion(Annotation( "MESH:D004619"^^xsd:string) "Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH."^^xsd:string) AnnotationAssertion( "EFO:1001263"^^xsd:string) AnnotationAssertion( "MESH:D004619"^^xsd:string) AnnotationAssertion( "Amniotic Fluid Embolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006155"^^xsd:string) AnnotationAssertion(rdfs:label "Amniotic Fluid Embolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Cystic Parathyroid Adenomatosis) AnnotationAssertion( "MESH:C564165"^^xsd:string) AnnotationAssertion( "CYSTIC PARATHYROID ADENOMA"^^xsd:string) AnnotationAssertion( "CYSTIC PARATHYROID ADENOMA, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006156"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cystic Parathyroid Adenomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X Chromosome, Monosomy Xp22 pter) AnnotationAssertion( "MESH:C536754"^^xsd:string) AnnotationAssertion( "RDO:0002434"^^xsd:string) AnnotationAssertion( "Deletion Xp22 pter"^^xsd:string) AnnotationAssertion( "Monosomy Xp22 pter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006157"^^xsd:string) AnnotationAssertion(rdfs:label "X Chromosome, Monosomy Xp22 pter"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group K) AnnotationAssertion( "MESH:C566624"^^xsd:string) AnnotationAssertion( "CGK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006158"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group K"^^xsd:string) SubClassOf( ) # Class: (Undefined Platelet Disorder) AnnotationAssertion( "MIM:173420"^^xsd:string) AnnotationAssertion( "MESH:C566799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006159"^^xsd:string) AnnotationAssertion(rdfs:label "Undefined Platelet Disorder"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Osteochondritis) AnnotationAssertion(Annotation( "MESH:D010007"^^xsd:string) "Inflammation of a bone and its overlaying CARTILAGE."^^xsd:string) AnnotationAssertion( "RDO:0000870"^^xsd:string) AnnotationAssertion( "MESH:D010007"^^xsd:string) AnnotationAssertion( "Meniscitis"^^xsd:string) AnnotationAssertion( "meniscitides"^^xsd:string) AnnotationAssertion( "osteochondritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006161"^^xsd:string) AnnotationAssertion(rdfs:label "Osteochondritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Endotoxin Hyporesponsiveness) AnnotationAssertion( "MESH:C566417"^^xsd:string) AnnotationAssertion( "RDO:0014776"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006162"^^xsd:string) AnnotationAssertion(rdfs:label "Endotoxin Hyporesponsiveness"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Retinitis Pigmentosa, and Sutural Cataract) AnnotationAssertion( "MIM:601537"^^xsd:string) AnnotationAssertion( "MESH:C563296"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006163"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Retinitis Pigmentosa, and Sutural Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Porokeratosis 6, Multiple Types) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK6 maps to chromosome 1p31. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:612353"^^xsd:string) AnnotationAssertion( "DSAP4"^^xsd:string) AnnotationAssertion( "POROK6"^^xsd:string) AnnotationAssertion( "disseminated superficial actinic porokeratosis 4"^^xsd:string) AnnotationAssertion( "disseminated superficial porokeratosis 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006165"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 6, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Hypertension, Hypoxia-Induced) AnnotationAssertion( "Increased vascular resistance in the pulmonary circulation, secondary to hypoxia."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-10-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000421"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006166"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Hypertension, Hypoxia-Induced"^^xsd:string) SubClassOf( ) # Class: (Partial Agenesis of Corpus Callosum, X-Linked) AnnotationAssertion( "MIM:304100"^^xsd:string) AnnotationAssertion( "MESH:C564115"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006167"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Agenesis of Corpus Callosum, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive) AnnotationAssertion( "MIM:604431"^^xsd:string) AnnotationAssertion( "MESH:C565773"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006168"^^xsd:string) AnnotationAssertion(rdfs:label "Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Head and Neck Neoplasms) AnnotationAssertion(Annotation( "MESH:D006258"^^xsd:string) "Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)"^^xsd:string) AnnotationAssertion( "RDO:0000780"^^xsd:string) AnnotationAssertion( "EFO:0004284"^^xsd:string) AnnotationAssertion( "EFO:0005950"^^xsd:string) AnnotationAssertion( "MESH:D006258"^^xsd:string) AnnotationAssertion( "Head Neoplasms"^^xsd:string) AnnotationAssertion( "Head, Neck Neoplasms"^^xsd:string) AnnotationAssertion( "Neck Neoplasms"^^xsd:string) AnnotationAssertion( "UADT Neoplasm"^^xsd:string) AnnotationAssertion( "UADT Neoplasms"^^xsd:string) AnnotationAssertion( "Upper Aerodigestive Tract Neoplasms"^^xsd:string) AnnotationAssertion( "upper aerodigestive tract neoplasm"^^xsd:string) AnnotationAssertion( "Cancer of Head"^^xsd:string) AnnotationAssertion( "Cancer of Neck"^^xsd:string) AnnotationAssertion( "Cancer of the Head"^^xsd:string) AnnotationAssertion( "Cancer of the Neck"^^xsd:string) AnnotationAssertion( "Head Cancer"^^xsd:string) AnnotationAssertion( "Neck Cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006169"^^xsd:string) AnnotationAssertion(rdfs:label "Head and Neck Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Hyperheparinemia) AnnotationAssertion( "MIM:144050"^^xsd:string) AnnotationAssertion( "MESH:C562723"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006170"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperheparinemia"^^xsd:string) SubClassOf( ) # Class: (Gaucher Disease, Type IIIb) AnnotationAssertion( "MESH:C565555"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006171"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher Disease, Type IIIb"^^xsd:string) SubClassOf( ) # Class: (Urinary Bladder Fistula) AnnotationAssertion(Annotation( "MESH:D001747"^^xsd:string) "An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ."^^xsd:string) AnnotationAssertion( "EFO:1001862"^^xsd:string) AnnotationAssertion( "MESH:D001747"^^xsd:string) AnnotationAssertion( "RDO:0005012"^^xsd:string) AnnotationAssertion( "Urinary Bladder Fistulas"^^xsd:string) AnnotationAssertion( "Vesical Fistula"^^xsd:string) AnnotationAssertion( "Vesical Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006172"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Bladder Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 2, Monosomy 2q) AnnotationAssertion( "MESH:C538315"^^xsd:string) AnnotationAssertion( "RDO:0004277"^^xsd:string) AnnotationAssertion( "Deletion 2q"^^xsd:string) AnnotationAssertion( "Monosomy 2q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006174"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Monosomy 2q"^^xsd:string) SubClassOf( ) # Class: (Peritoneal Diseases) AnnotationAssertion(Annotation( "MESH:D010532"^^xsd:string) "Pathological processes involving the PERITONEUM."^^xsd:string) AnnotationAssertion( "EFO:0009541"^^xsd:string) AnnotationAssertion( "MESH:D010532"^^xsd:string) AnnotationAssertion( "Peritoneal Disease"^^xsd:string) AnnotationAssertion( "disease of peritoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006175"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Diseases"^^xsd:string) SubClassOf( ) # Class: (Cardioneuromyopathy with Hyaline Masses and Nemaline Rods) AnnotationAssertion( "MIM:606842"^^xsd:string) AnnotationAssertion( "MESH:C564655"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006176"^^xsd:string) AnnotationAssertion(rdfs:label "Cardioneuromyopathy with Hyaline Masses and Nemaline Rods"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620519"^^xsd:string) "This disease is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Various ectodermal abnormalities may be present in patients."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-07T13:23:38Z"^^xsd:string) AnnotationAssertion( "MIM:620519"^^xsd:string) AnnotationAssertion( "ARCME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006177"^^xsd:string) AnnotationAssertion(rdfs:label "ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: (Dysphonia) AnnotationAssertion(Annotation( "MESH:D055154"^^xsd:string) "Difficulty and/or pain in PHONATION or speaking."^^xsd:string) AnnotationAssertion( "MESH:D055154"^^xsd:string) AnnotationAssertion( "Hyperkinetic Dysphonia"^^xsd:string) AnnotationAssertion( "Neurologic Adducter Spastic Dysphonia"^^xsd:string) AnnotationAssertion( "Organic Tremor Dysphonia"^^xsd:string) AnnotationAssertion( "Phonation Disorder"^^xsd:string) AnnotationAssertion( "Phonation Disorders"^^xsd:string) AnnotationAssertion( "Spastic Dysphonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006178"^^xsd:string) AnnotationAssertion(rdfs:label "Dysphonia"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Progesterone Dermatitis) AnnotationAssertion( "MESH:C535299"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006179"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Progesterone Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Muscular Dystrophy with Central Nervous System Involvement) AnnotationAssertion( "RDO:0004132"^^xsd:string) AnnotationAssertion( "MESH:C538190"^^xsd:string) AnnotationAssertion( "Muscular dystrophy, congenital progressive, with mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006181"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy with Central Nervous System Involvement"^^xsd:string) SubClassOf( ) # Class: (Carotid Artery Injuries) AnnotationAssertion(Annotation( "MESH:D020212"^^xsd:string) "Damages to the CAROTID ARTERIES caused either by blunt force or penetrating trauma, such as CRANIOCEREBRAL TRAUMA; THORACIC INJURIES; and NECK INJURIES. Damaged carotid arteries can lead to CAROTID ARTERY THROMBOSIS; CAROTID-CAVERNOUS SINUS FISTULA; pseudoaneurysm formation; and INTERNAL CAROTID ARTERY DISSECTION. (From Am J Forensic Med Pathol 1997, 18:251; J Trauma 1994, 37:473)"^^xsd:string) AnnotationAssertion( "MESH:D020212"^^xsd:string) AnnotationAssertion( "Carotid Arteriopathies, Traumatic"^^xsd:string) AnnotationAssertion( "Carotid Artery Injury"^^xsd:string) AnnotationAssertion( "Carotid Artery Trauma"^^xsd:string) AnnotationAssertion( "Carotid False Aneurysm"^^xsd:string) AnnotationAssertion( "Carotid False Aneurysms"^^xsd:string) AnnotationAssertion( "Carotid Pseudoaneurysm"^^xsd:string) AnnotationAssertion( "Traumatic Carotid Arteriopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006182"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Artery Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ventriculomegaly and Arthrogryposis) AnnotationAssertion( "A severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Caused by homozygous mutation in the KIDINS220 gene on chromosome 2p25. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-09-01T15:27:22Z"^^xsd:string) AnnotationAssertion( "KIDINS220-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619501"^^xsd:string) AnnotationAssertion( "VENARG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006183"^^xsd:string) AnnotationAssertion(rdfs:label "Ventriculomegaly and Arthrogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Schwartz Cohen-Addad Lambert Syndrome) AnnotationAssertion( "MESH:C535835"^^xsd:string) AnnotationAssertion( "RDO:0001163"^^xsd:string) AnnotationAssertion( "Congenital melanocytosis with myelomeningocele and hydrocephalus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006185"^^xsd:string) AnnotationAssertion(rdfs:label "Schwartz Cohen-Addad Lambert Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Immunodeficiency 84) AnnotationAssertion( "An autosomal recessive primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. Caused by heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-04T13:50:41Z"^^xsd:string) AnnotationAssertion( "MIM:619437"^^xsd:string) AnnotationAssertion( "IMD84"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006187"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 84"^^xsd:string) SubClassOf( ) # Class: (Oro-Facial Gangrene) AnnotationAssertion( "MESH:C531760"^^xsd:string) AnnotationAssertion( "RDO:0000172"^^xsd:string) AnnotationAssertion( "Noma neonatorum"^^xsd:string) AnnotationAssertion( "Oral gangrene"^^xsd:string) AnnotationAssertion( "Oro-facial noma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006188"^^xsd:string) AnnotationAssertion(rdfs:label "Oro-Facial Gangrene"^^xsd:string) SubClassOf( ) # Class: (Premenstrual Dysphoric Disorder) AnnotationAssertion(Annotation( "MESH:D065446"^^xsd:string) "A condition in which a woman suffers from severe depression, irritability, and tension before MENSTRUATION. Premenstrual dysphoric disorder (PMDD) may involve a wide range of physical or emotional symptoms, which are more severe and debilitating than those seen with premenstrual syndrome (PMS), and which include at least one mood-related symptom. Symptoms usually stop when, or shortly after, menstruation begins."^^xsd:string) AnnotationAssertion( "MESH:D065446"^^xsd:string) AnnotationAssertion( "RDO:0015973"^^xsd:string) AnnotationAssertion( "Premenstrual Dysphoric Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006189"^^xsd:string) AnnotationAssertion(rdfs:label "Premenstrual Dysphoric Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic Pancreatitis) AnnotationAssertion(Annotation( "MESH:D050500"^^xsd:string) "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse."^^xsd:string) AnnotationAssertion( "RDO:0003066"^^xsd:string) AnnotationAssertion( "EFO:0000342"^^xsd:string) AnnotationAssertion( "MESH:D050500"^^xsd:string) AnnotationAssertion( "NCI:C84637"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chronic pancreatitis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9006190"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Pancreatitis"^^xsd:string) SubClassOf( ) # Class: (Hypoadiponectinemia) AnnotationAssertion( "MIM:612556"^^xsd:string) AnnotationAssertion( "MESH:C567258"^^xsd:string) AnnotationAssertion( "ADPOD"^^xsd:string) AnnotationAssertion( "Adiponectin deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006191"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoadiponectinemia"^^xsd:string) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 9) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-09T07:57:53Z"^^xsd:string) AnnotationAssertion( "MIM:619011"^^xsd:string) AnnotationAssertion( "OOMD9"^^xsd:string) AnnotationAssertion( "OZEMA9"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006192"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 9"^^xsd:string) SubClassOf( ) # Class: (Loeys-Dietz Syndrome, Type 1b) AnnotationAssertion( "MESH:C567181"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006193"^^xsd:string) AnnotationAssertion(rdfs:label "Loeys-Dietz Syndrome, Type 1b"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Complement Component C1s Deficiency) AnnotationAssertion( "MIM:613783"^^xsd:string) AnnotationAssertion( "MESH:C565170"^^xsd:string) AnnotationAssertion( "RDO:0013893"^^xsd:string) AnnotationAssertion( "C1SD"^^xsd:string) AnnotationAssertion( "C1s Deficiency"^^xsd:string) AnnotationAssertion( "COMPLEMENT 1S DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006194"^^xsd:string) AnnotationAssertion(rdfs:label "Complement Component C1s Deficiency"^^xsd:string) SubClassOf( ) # Class: (Medullary Carcinomas) AnnotationAssertion(Annotation( "MESH:D018276"^^xsd:string) "A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)"^^xsd:string) AnnotationAssertion( "MESH:D018276"^^xsd:string) AnnotationAssertion( "Medullary Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006195"^^xsd:string) AnnotationAssertion(rdfs:label "Medullary Carcinomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Superior Transverse Scapular Ligament, Calcification Of, Familial) AnnotationAssertion( "MIM:601708"^^xsd:string) AnnotationAssertion( "MESH:C566638"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006196"^^xsd:string) AnnotationAssertion(rdfs:label "Superior Transverse Scapular Ligament, Calcification Of, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot Marie Tooth Type 1 Aplasia Cutis Congenita) AnnotationAssertion( "MIM:302803"^^xsd:string) AnnotationAssertion( "RDO:0004010"^^xsd:string) AnnotationAssertion( "MESH:C538077"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006197"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot Marie Tooth Type 1 Aplasia Cutis Congenita"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Verloes Gillerot Fryns Syndrome) AnnotationAssertion( "MESH:C536539"^^xsd:string) AnnotationAssertion( "RDO:0002152"^^xsd:string) AnnotationAssertion( "Cerebro-Acro-Visceral Early lethality multiplex syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006199"^^xsd:string) AnnotationAssertion(rdfs:label "Verloes Gillerot Fryns Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Retropneumoperitoneum) AnnotationAssertion(Annotation( "MESH:D012188"^^xsd:string) "Pathological or accidental introduction of air into the retroperitoneal space."^^xsd:string) AnnotationAssertion( "MESH:D012188"^^xsd:string) AnnotationAssertion( "RDO:0006485"^^xsd:string) AnnotationAssertion( "Pneumoretroperitoneum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006201"^^xsd:string) AnnotationAssertion(rdfs:label "Retropneumoperitoneum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pruritus) AnnotationAssertion(Annotation( "MESH:D011537"^^xsd:string) "An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief."^^xsd:string) AnnotationAssertion( "MESH:D011537"^^xsd:string) AnnotationAssertion( "Itching"^^xsd:string) AnnotationAssertion( "Pruritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006202"^^xsd:string) AnnotationAssertion(rdfs:label "Pruritus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Manouvrier Syndrome) AnnotationAssertion( "MESH:C535708"^^xsd:string) AnnotationAssertion( "Lung agenesis heart defect thumb anomalies"^^xsd:string) AnnotationAssertion( "Pulmonary aplasia and triphalangia of the thumb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006203"^^xsd:string) AnnotationAssertion(rdfs:label "Manouvrier Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 19) AnnotationAssertion( "A oocyte/zygote/embryo maturation arrest caused by homozygous or compound heterozygous mutation in the NLRP5 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-18T09:37:07Z"^^xsd:string) AnnotationAssertion( "MIM:620333"^^xsd:string) AnnotationAssertion( "OZEMA19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006204"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 19"^^xsd:string) SubClassOf( ) # Class: (Animal Disease Models) AnnotationAssertion(Annotation( "MESH:D004195"^^xsd:string) "Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases."^^xsd:string) AnnotationAssertion( "MESH:D004195"^^xsd:string) AnnotationAssertion( "Animal Disease Model"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006205"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Disease Models"^^xsd:string) SubClassOf( ) # Class: (Sjogren-Larsson-like Syndrome) AnnotationAssertion( "MIM:270220"^^xsd:string) AnnotationAssertion( "MESH:C536668"^^xsd:string) AnnotationAssertion( "Sjogren-Larsson-like ichthyosis without CNS or eye involvement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006206"^^xsd:string) AnnotationAssertion(rdfs:label "Sjogren-Larsson-like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebral Phaeohyphomycosis) AnnotationAssertion(Annotation( "MESH:D060425"^^xsd:string) "CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST."^^xsd:string) AnnotationAssertion( "MESH:D060425"^^xsd:string) AnnotationAssertion( "Central Nervous System Phaeohyphomycosis"^^xsd:string) AnnotationAssertion( "Cerebral Phaeohyphomycoses"^^xsd:string) AnnotationAssertion( "Primary Central Nervous System Phaeohyphomycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006207"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Phaeohyphomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Atlanto-Axial Fusion) AnnotationAssertion( "MESH:C538196"^^xsd:string) AnnotationAssertion( "Atlantoaxial Fusion"^^xsd:string) AnnotationAssertion( "Atlantoaxial joint fusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006209"^^xsd:string) AnnotationAssertion(rdfs:label "Atlanto-Axial Fusion"^^xsd:string) SubClassOf( ) # Class: (Familial Convulsive Disorder with Prenatal or Early Onset) AnnotationAssertion( "MIM:217200"^^xsd:string) AnnotationAssertion( "MESH:C565678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006210"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Convulsive Disorder with Prenatal or Early Onset"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NF1 Microduplication Syndrome) AnnotationAssertion( "MESH:C567173"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006211"^^xsd:string) AnnotationAssertion(rdfs:label "NF1 Microduplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Midphalangeal Hair) AnnotationAssertion( "MIM:157200"^^xsd:string) AnnotationAssertion( "MESH:C537471"^^xsd:string) AnnotationAssertion( "middigital hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006212"^^xsd:string) AnnotationAssertion(rdfs:label "Midphalangeal Hair"^^xsd:string) SubClassOf( ) # Class: (Sweating Sickness) AnnotationAssertion(Annotation( "MESH:D018614"^^xsd:string) "A clinical condition characterized by fever and profuse sweating and associated with high mortality. It occurred in epidemic form five times in the fifteenth and sixteenth centuries in England, first in 1485 and last in 1551, specially during the summer and early autumn, attacking the relatively affluent adult male population. The etiology was unknown."^^xsd:string) AnnotationAssertion( "MESH:D018614"^^xsd:string) AnnotationAssertion( "English Sweating Sickness"^^xsd:string) AnnotationAssertion( "Sudor Anglicus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006214"^^xsd:string) AnnotationAssertion(rdfs:label "Sweating Sickness"^^xsd:string) SubClassOf( ) # Class: (Exfoliative Dermatitis) AnnotationAssertion(Annotation( "MESH:D003873"^^xsd:string) "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:0009456"^^xsd:string) AnnotationAssertion( "MESH:D003873"^^xsd:string) AnnotationAssertion( "Dermatitis Exfoliativa"^^xsd:string) AnnotationAssertion( "Erythroderma"^^xsd:string) AnnotationAssertion( "Erythrodermas"^^xsd:string) AnnotationAssertion( "Exfoliative Dermatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006215"^^xsd:string) AnnotationAssertion(rdfs:label "Exfoliative Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acid Phosphatase Deficiency) AnnotationAssertion( "MIM:200950"^^xsd:string) AnnotationAssertion( "MESH:C562645"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006216"^^xsd:string) AnnotationAssertion(rdfs:label "Acid Phosphatase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Collagenous Sprue) AnnotationAssertion(Annotation( "MESH:D064068"^^xsd:string) "A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet."^^xsd:string) AnnotationAssertion( "MESH:D064068"^^xsd:string) AnnotationAssertion( "RDO:0015830"^^xsd:string) AnnotationAssertion( "Collagenous Sprues"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006217"^^xsd:string) AnnotationAssertion(rdfs:label "Collagenous Sprue"^^xsd:string) SubClassOf( ) # Class: (Masked Hypertension) AnnotationAssertion(Annotation( "MESH:D059468"^^xsd:string) "Phenomenon where increased BLOOD PRESSURE readings taken in non-clinical settings (e.g., HOME BLOOD PRESSURE MONITORING) do not replicate in clinical settings."^^xsd:string) AnnotationAssertion( "MESH:D059468"^^xsd:string) AnnotationAssertion( "RDO:0010021"^^xsd:string) AnnotationAssertion( "Masked Hypertensions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006218"^^xsd:string) AnnotationAssertion(rdfs:label "Masked Hypertension"^^xsd:string) SubClassOf( ) # Class: (Avian Leukosis) AnnotationAssertion(Annotation( "MESH:D001353"^^xsd:string) "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere."^^xsd:string) AnnotationAssertion( "EFO:0005923"^^xsd:string) AnnotationAssertion( "MESH:D001353"^^xsd:string) AnnotationAssertion( "Avian Leukoses"^^xsd:string) AnnotationAssertion( "AVL induced bursal lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006219"^^xsd:string) AnnotationAssertion(rdfs:label "Avian Leukosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mirizzi Syndrome) AnnotationAssertion(Annotation( "MESH:D057792"^^xsd:string) "Complication of CHOLELITHIASIS characterized by OBSTRUCTIVE JAUNDICE; abdominal pain, and fever."^^xsd:string) AnnotationAssertion( "MESH:D057792"^^xsd:string) AnnotationAssertion( "Mirizzi's Syndrome"^^xsd:string) AnnotationAssertion( "Mirizzis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006220"^^xsd:string) AnnotationAssertion(rdfs:label "Mirizzi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (smooth muscle hamartoma) AnnotationAssertion(Annotation( "PMID:31424772"^^xsd:string) "This neoplasm is a benign proliferation of mature smooth muscle. It can arise from the arrector pili muscle attached to hair follicles, the dartos muscle in the scrotum, the vascular smooth muscle, or the muscularis mammillae of the areolae. It is a sporadic condition that usually presents as a solitary lesion."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-04-22T12:34:01Z"^^xsd:string) AnnotationAssertion( "CONGENITAL SMOOTH MUSCLE HAMARTOMA"^^xsd:string) AnnotationAssertion( "acquired smooth muscle hamartoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006221"^^xsd:string) AnnotationAssertion(rdfs:label "smooth muscle hamartoma"^^xsd:string) SubClassOf( ) # Class: (Short-Rib Thoracic Dysplasia 16 with or without Polydactyly) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617102"^^xsd:string) AnnotationAssertion( "SRTD16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006222"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Rib Thoracic Dysplasia 16 with or without Polydactyly"^^xsd:string) SubClassOf( ) # Class: (Kidney Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the kidney, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "Kidney Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Renal Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Renal Reperfusion Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006223"^^xsd:string) AnnotationAssertion(rdfs:label "Kidney Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reticular Erythrokeratoderma) AnnotationAssertion( "MESH:C563781"^^xsd:string) AnnotationAssertion( "MIM:609165"^^xsd:string) AnnotationAssertion( "MONDO:0012208"^^xsd:string) AnnotationAssertion( "ORDO:281190"^^xsd:string) AnnotationAssertion( "Aarau disease"^^xsd:string) AnnotationAssertion( "CRIE"^^xsd:string) AnnotationAssertion( "IWC"^^xsd:string) AnnotationAssertion( "MAUIE"^^xsd:string) AnnotationAssertion( "Mauie syndrome"^^xsd:string) AnnotationAssertion( "congenital reticular ichthyosiform erythroderma"^^xsd:string) AnnotationAssertion( "ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and ectropion"^^xsd:string) AnnotationAssertion( "ichthyosis with confetti"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006224"^^xsd:string) AnnotationAssertion(rdfs:label "Reticular Erythrokeratoderma"^^xsd:string) SubClassOf( ) # Class: (Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T-Helper Cells) AnnotationAssertion( "MIM:183350"^^xsd:string) AnnotationAssertion( "MESH:C566666"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006225"^^xsd:string) AnnotationAssertion(rdfs:label "Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T-Helper Cells"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Dermatitis Herpetiformis) AnnotationAssertion( "MIM:601230"^^xsd:string) AnnotationAssertion( "MESH:C538218"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006226"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Dermatitis Herpetiformis"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type 1O) AnnotationAssertion( "MIM:612937"^^xsd:string) AnnotationAssertion( "MESH:C567857"^^xsd:string) AnnotationAssertion( "CDG Io"^^xsd:string) AnnotationAssertion( "CDG1(DPM3)"^^xsd:string) AnnotationAssertion( "CDG1o"^^xsd:string) AnnotationAssertion( "CDGIo"^^xsd:string) AnnotationAssertion( "MDDGC15"^^xsd:string) AnnotationAssertion( "congenital disorder of glycosylation, type Io"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15"^^xsd:string) AnnotationAssertion( "muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006227"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type 1O"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hermansky-Pudlak Syndrome 10) AnnotationAssertion( "An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617050"^^xsd:string) AnnotationAssertion( "AP3D1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HPS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006228"^^xsd:string) AnnotationAssertion(rdfs:label "Hermansky-Pudlak Syndrome 10"^^xsd:string) SubClassOf( ) # Class: (MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME) AnnotationAssertion(Annotation( "MIM:619518"^^xsd:string) "This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-10-21T11:12:35Z"^^xsd:string) AnnotationAssertion( "MIM:619518"^^xsd:string) AnnotationAssertion( "MDHLO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006229"^^xsd:string) AnnotationAssertion(rdfs:label "MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neurologic Gait Disorders) AnnotationAssertion(Annotation( "MESH:D020233"^^xsd:string) "Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES."^^xsd:string) AnnotationAssertion( "MESH:D020233"^^xsd:string) AnnotationAssertion( "Broadened Gait"^^xsd:string) AnnotationAssertion( "Charcot Gait"^^xsd:string) AnnotationAssertion( "Charcot Gaits"^^xsd:string) AnnotationAssertion( "Charcot's Gait"^^xsd:string) AnnotationAssertion( "Charcots Gait"^^xsd:string) AnnotationAssertion( "Drop Foot Gait"^^xsd:string) AnnotationAssertion( "Duck Gait"^^xsd:string) AnnotationAssertion( "Festinating Gait"^^xsd:string) AnnotationAssertion( "Frontal Gait"^^xsd:string) AnnotationAssertion( "Hemiplegic Gait"^^xsd:string) AnnotationAssertion( "Hysterical Gait"^^xsd:string) AnnotationAssertion( "Marche a Petit Pas"^^xsd:string) AnnotationAssertion( "Neurologic Ambulation Disorder"^^xsd:string) AnnotationAssertion( "Neurologic Ambulation Disorders"^^xsd:string) AnnotationAssertion( "Neurologic Gait Disorder"^^xsd:string) AnnotationAssertion( "Neurologic Gait Dysfunction"^^xsd:string) AnnotationAssertion( "Neurologic Gait Dysfunctions"^^xsd:string) AnnotationAssertion( "Neurologic Locomotion Disorder"^^xsd:string) AnnotationAssertion( "Neurologic Locomotion Disorders"^^xsd:string) AnnotationAssertion( "Rapid Fatigue of Gait"^^xsd:string) AnnotationAssertion( "Reeling Gait"^^xsd:string) AnnotationAssertion( "Rigid Gait"^^xsd:string) AnnotationAssertion( "Scissors Gait"^^xsd:string) AnnotationAssertion( "Sensorimotor Gait Disorder"^^xsd:string) AnnotationAssertion( "Sensorimotor Gait Disorders"^^xsd:string) AnnotationAssertion( "Shuffling Gait"^^xsd:string) AnnotationAssertion( "Shuffling Gaits"^^xsd:string) AnnotationAssertion( "Spastic Gait"^^xsd:string) AnnotationAssertion( "Stumbling Gait"^^xsd:string) AnnotationAssertion( "Unsteady Gait"^^xsd:string) AnnotationAssertion( "athetotic gait"^^xsd:string) AnnotationAssertion( "widebased gait"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006230"^^xsd:string) AnnotationAssertion(rdfs:label "Neurologic Gait Disorders"^^xsd:string) SubClassOf( ) # Class: (Say Meyer Syndrome) AnnotationAssertion( "MIM:314320"^^xsd:string) AnnotationAssertion( "MESH:C536620"^^xsd:string) AnnotationAssertion( "Trigonocephaly with Short Stature and Developmental Delay"^^xsd:string) AnnotationAssertion( "Trigonocephaly, short stature and developmental delay"^^xsd:string) AnnotationAssertion( "Trigonocephaly, short stature, and retarded psychomotor development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006231"^^xsd:string) AnnotationAssertion(rdfs:label "Say Meyer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Grant Syndrome) AnnotationAssertion( "MIM:138930"^^xsd:string) AnnotationAssertion( "MESH:C537293"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006232"^^xsd:string) AnnotationAssertion(rdfs:label "Grant Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Harlequin Syndrome) AnnotationAssertion( "MESH:C535634"^^xsd:string) AnnotationAssertion( "Sudden onset of unilateral flushing and sweating"^^xsd:string) AnnotationAssertion( "Unilateral loss of facial flushing and sweating with contralateral anhidrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006236"^^xsd:string) AnnotationAssertion(rdfs:label "Harlequin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metabolically Benign Obesity) AnnotationAssertion(Annotation( "MESH:D000067329"^^xsd:string) "A sub-PHENOTYPE of obese individuals who have a risk for CARDIOVASCULAR DISEASES between that of healthy individuals with normal weight and unhealthy individuals with obesity."^^xsd:string) AnnotationAssertion( "EFO:0009382"^^xsd:string) AnnotationAssertion( "MESH:D000067329"^^xsd:string) AnnotationAssertion( "Metabolically Healthy Obesity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006237"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolically Benign Obesity"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy) AnnotationAssertion(Annotation( "MIM:618741"^^xsd:string) "An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-03-16T15:17:15Z"^^xsd:string) AnnotationAssertion( "MIM:618741"^^xsd:string) AnnotationAssertion( "NEDESBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006238"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alkaptonuric Ochronosis) AnnotationAssertion( "MESH:C531762"^^xsd:string) AnnotationAssertion( "Exogenous ochronosis"^^xsd:string) AnnotationAssertion( "Ocular ochronosis"^^xsd:string) AnnotationAssertion( "Pseudo-ochronosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006239"^^xsd:string) AnnotationAssertion(rdfs:label "Alkaptonuric Ochronosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Permanent Neonatal Diabetes Mellitus 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-01T09:51:06Z"^^xsd:string) AnnotationAssertion( "MIM:618856"^^xsd:string) AnnotationAssertion( "PNDM2"^^xsd:string) AnnotationAssertion( "DEND1"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006240"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus 2"^^xsd:string) SubClassOf( ) # Class: (Perniola Krajewska Carnevale Syndrome) AnnotationAssertion( "MESH:C536660"^^xsd:string) AnnotationAssertion( "Congenital alopecia, psychomotor retardation, convulsions"^^xsd:string) AnnotationAssertion( "Neuroectodermosis with alopecia or hypotrichosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006241"^^xsd:string) AnnotationAssertion(rdfs:label "Perniola Krajewska Carnevale Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lattice Corneal Dystrophy, Type IIIA) AnnotationAssertion( "MIM:608471"^^xsd:string) AnnotationAssertion( "MESH:C563923"^^xsd:string) AnnotationAssertion( "CDL3A"^^xsd:string) AnnotationAssertion( "lattice corneal dystrophy type 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006242"^^xsd:string) AnnotationAssertion(rdfs:label "Lattice Corneal Dystrophy, Type IIIA"^^xsd:string) SubClassOf( ) # Class: (Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone) AnnotationAssertion( "MIM:202150"^^xsd:string) AnnotationAssertion( "MESH:C565976"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006243"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY) AnnotationAssertion(Annotation( "MIM:619338"^^xsd:string) "This disease is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-10T12:43:47Z"^^xsd:string) AnnotationAssertion( "FAR1-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "MIM:619338"^^xsd:string) AnnotationAssertion( "CSPSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006244"^^xsd:string) AnnotationAssertion(rdfs:label "CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pavone Fiumara Rizzo Syndrome) AnnotationAssertion( "MESH:C536313"^^xsd:string) AnnotationAssertion( "Syndactyly type 1 with cataracts and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006245"^^xsd:string) AnnotationAssertion(rdfs:label "Pavone Fiumara Rizzo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Monosomy 3p14 p11) AnnotationAssertion( "MESH:C536805"^^xsd:string) AnnotationAssertion( "RDO:0002497"^^xsd:string) AnnotationAssertion( "Deletion 3p14 p11"^^xsd:string) AnnotationAssertion( "Monosomy 3p14 p11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006246"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3p14 p11"^^xsd:string) SubClassOf( ) # Class: (Aortic Arch Anomaly with Peculiar Facies and Mental Retardation) AnnotationAssertion( "MIM:107500"^^xsd:string) AnnotationAssertion( "MESH:C537785"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006247"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Arch Anomaly with Peculiar Facies and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adrenomyodystrophy) AnnotationAssertion( "MIM:300270"^^xsd:string) AnnotationAssertion( "MESH:C538051"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006248"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenomyodystrophy"^^xsd:string) SubClassOf( ) # Class: (RADIO-TARTAGLIA SYNDROME) AnnotationAssertion(Annotation( "MIM:619312"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, hypotonia, mild motor difficulties, and craniofacial dysmorphism."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-22T11:05:08Z"^^xsd:string) AnnotationAssertion( "MIM:619312"^^xsd:string) AnnotationAssertion( "RATARS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006249"^^xsd:string) AnnotationAssertion(rdfs:label "RADIO-TARTAGLIA SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperpigmentation of Fuldauer and Kuijpers) AnnotationAssertion( "MIM:145200"^^xsd:string) AnnotationAssertion( "MESH:C564164"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006250"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperpigmentation of Fuldauer and Kuijpers"^^xsd:string) SubClassOf( ) # Class: (Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1) AnnotationAssertion( "Thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:605432"^^xsd:string) AnnotationAssertion( "RUSAT1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006251"^^xsd:string) AnnotationAssertion(rdfs:label "Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1"^^xsd:string) SubClassOf( ) # Class: (Elbow Tendinopathy) AnnotationAssertion(Annotation( "MESH:D000070639"^^xsd:string) "Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow."^^xsd:string) AnnotationAssertion( "MESH:D000070639"^^xsd:string) AnnotationAssertion( "Elbow Tendinopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006252"^^xsd:string) AnnotationAssertion(rdfs:label "Elbow Tendinopathy"^^xsd:string) SubClassOf( ) # Class: (Ketosis) AnnotationAssertion(Annotation( "MESH:D007662"^^xsd:string) "A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE)."^^xsd:string) AnnotationAssertion( "MESH:D007662"^^xsd:string) AnnotationAssertion( "RDO:0005934"^^xsd:string) AnnotationAssertion( "Acetonemia"^^xsd:string) AnnotationAssertion( "Acetonemias"^^xsd:string) AnnotationAssertion( "Acetonuria"^^xsd:string) AnnotationAssertion( "Acetonurias"^^xsd:string) AnnotationAssertion( "Ketoacidemia"^^xsd:string) AnnotationAssertion( "Ketoacidemias"^^xsd:string) AnnotationAssertion( "Ketoacidoses"^^xsd:string) AnnotationAssertion( "Ketoacidosis"^^xsd:string) AnnotationAssertion( "Ketoaciduria"^^xsd:string) AnnotationAssertion( "Ketoacidurias"^^xsd:string) AnnotationAssertion( "Ketonemia"^^xsd:string) AnnotationAssertion( "Ketonemias"^^xsd:string) AnnotationAssertion( "Ketonuria"^^xsd:string) AnnotationAssertion( "Ketonurias"^^xsd:string) AnnotationAssertion( "Metabolic Ketoacidoses"^^xsd:string) AnnotationAssertion( "Metabolic Ketoacidosis"^^xsd:string) AnnotationAssertion( "Metabolic Ketoses"^^xsd:string) AnnotationAssertion( "Metabolic Ketosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006253"^^xsd:string) AnnotationAssertion(rdfs:label "Ketosis"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Albinism Digital Anomalies Syndrome) AnnotationAssertion( "MIM:203340"^^xsd:string) AnnotationAssertion( "MESH:C537322"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006254"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Albinism Digital Anomalies Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sacroiliac Arthritis) AnnotationAssertion( "MIM:108100"^^xsd:string) AnnotationAssertion( "MESH:C563037"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006255"^^xsd:string) AnnotationAssertion(rdfs:label "Sacroiliac Arthritis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 6, Trisomy 6p) AnnotationAssertion( "MESH:C537811"^^xsd:string) AnnotationAssertion( "RDO:0003715"^^xsd:string) AnnotationAssertion( "Duplication 6p"^^xsd:string) AnnotationAssertion( "Trisomy 6p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006256"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Trisomy 6p"^^xsd:string) SubClassOf( ) # Class: (Growth Disorders) AnnotationAssertion(Annotation( "MESH:D006130"^^xsd:string) "Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth."^^xsd:string) AnnotationAssertion( "MESH:D006130"^^xsd:string) AnnotationAssertion( "Growth Disorder"^^xsd:string) AnnotationAssertion( "Stunted Growth"^^xsd:string) AnnotationAssertion( "Stunting"^^xsd:string) AnnotationAssertion( "growth retardation"^^xsd:string) AnnotationAssertion( "retardation of growth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006257"^^xsd:string) AnnotationAssertion(rdfs:label "Growth Disorders"^^xsd:string) SubClassOf( ) # Class: (Ocular Myopathy with Curare Sensitivity) AnnotationAssertion( "MIM:257600"^^xsd:string) AnnotationAssertion( "MESH:C564937"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006258"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Myopathy with Curare Sensitivity"^^xsd:string) SubClassOf( ) # Class: (Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism) AnnotationAssertion( "MIM:206400"^^xsd:string) AnnotationAssertion( "MESH:C565952"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006259"^^xsd:string) AnnotationAssertion(rdfs:label "Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Distal Trisomy 10q Syndrome) AnnotationAssertion( "MESH:C538087"^^xsd:string) AnnotationAssertion( "RDO:0004021"^^xsd:string) AnnotationAssertion( "Chromosome 10, Partial Trisomy 10q24-qter"^^xsd:string) AnnotationAssertion( "Chromosome 10, Trisomy 10q2"^^xsd:string) AnnotationAssertion( "Chromosome 10, distal trisomy 10q"^^xsd:string) AnnotationAssertion( "Distal Duplication 10q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006261"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Trisomy 10q Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cytomegalovirus Infections) AnnotationAssertion(Annotation( "MESH:D003586"^^xsd:string) "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."^^xsd:string) AnnotationAssertion( "EFO:0001062"^^xsd:string) AnnotationAssertion( "MESH:D003586"^^xsd:string) AnnotationAssertion( "Cytomegalic Inclusion Disease"^^xsd:string) AnnotationAssertion( "Cytomegalic Inclusion Diseases"^^xsd:string) AnnotationAssertion( "Cytomegalovirus Infection"^^xsd:string) AnnotationAssertion( "Inclusion Disease"^^xsd:string) AnnotationAssertion( "Inclusion Diseases"^^xsd:string) AnnotationAssertion( "Salivary Gland Virus Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006262"^^xsd:string) AnnotationAssertion(rdfs:label "Cytomegalovirus Infections"^^xsd:string) SubClassOf( ) # Class: (Experimental Pancreatitis) AnnotationAssertion( "Inflammation of the pancreas induced experimentally in laboratory animals."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006263"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Beck-Fahrner Syndrome) AnnotationAssertion( "A developmental disorder characterized by global developmental delay with variably impaired intellectual development."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T15:55:10Z"^^xsd:string) AnnotationAssertion( "MIM:618798"^^xsd:string) AnnotationAssertion( "BEFAHRS"^^xsd:string) AnnotationAssertion( "TET3 DEFICIENCY"^^xsd:string) AnnotationAssertion( "TET3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006264"^^xsd:string) AnnotationAssertion(rdfs:label "Beck-Fahrner Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Tuberculoses) AnnotationAssertion(Annotation( "MESH:D014399"^^xsd:string) "Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs."^^xsd:string) AnnotationAssertion( "MESH:D014399"^^xsd:string) AnnotationAssertion( "Pott Disease"^^xsd:string) AnnotationAssertion( "Pott's Disease"^^xsd:string) AnnotationAssertion( "Pott's Paraplegia"^^xsd:string) AnnotationAssertion( "Potts Disease"^^xsd:string) AnnotationAssertion( "Spinal Tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006265"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Tuberculoses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mink Viral Enteritis) AnnotationAssertion(Annotation( "MESH:D053489"^^xsd:string) "A highly contagious parvovirus infection in mink, caused by MINK ENTERITIS VIRUS or the closely related FELINE PANLEUKOPENIA VIRUS or CANINE PARVOVIRUS. Transmission usually occurs by the fecal/oral route."^^xsd:string) AnnotationAssertion( "MESH:D053489"^^xsd:string) AnnotationAssertion( "Enteritis, Infectious, of Mink"^^xsd:string) AnnotationAssertion( "Mink Viral Enteritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006266"^^xsd:string) AnnotationAssertion(rdfs:label "Mink Viral Enteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Iliac Aneurysm) AnnotationAssertion(Annotation( "MESH:D017543"^^xsd:string) "Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY."^^xsd:string) AnnotationAssertion( "MESH:D017543"^^xsd:string) AnnotationAssertion( "Iliac Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006268"^^xsd:string) AnnotationAssertion(rdfs:label "Iliac Aneurysm"^^xsd:string) SubClassOf( ) # Class: (Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone) AnnotationAssertion( "MIM:223500"^^xsd:string) AnnotationAssertion( "MESH:C565615"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006269"^^xsd:string) AnnotationAssertion(rdfs:label "Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects) AnnotationAssertion(Annotation( "MIM:620083"^^xsd:string) "A disease characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Caused by heterozygous mutation in the HNRNPH1 gene on chromosome 5q35."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-24T08:15:04Z"^^xsd:string) AnnotationAssertion( "MIM:620083"^^xsd:string) AnnotationAssertion( "NEDCDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006270"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly, Short Stature, and Impaired Glucose Metabolism 2) AnnotationAssertion( "MIM:616817"^^xsd:string) AnnotationAssertion( "MSSGM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006272"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Short Stature, and Impaired Glucose Metabolism 2"^^xsd:string) SubClassOf( ) # Class: (Pseudoxanthoma Elasticum, Heterozygous) AnnotationAssertion( "MESH:C566744"^^xsd:string) AnnotationAssertion( "RDO:0015011"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006273"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoxanthoma Elasticum, Heterozygous"^^xsd:string) SubClassOf( ) # Class: (UV-Sensitive Syndrome 1) AnnotationAssertion( "RDO:0008765"^^xsd:string) AnnotationAssertion( "MIM:600630"^^xsd:string) AnnotationAssertion( "NCI:C173106"^^xsd:string) AnnotationAssertion( "UVSS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006274"^^xsd:string) AnnotationAssertion(rdfs:label "UV-Sensitive Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Adams-Oliver Syndrome 3) AnnotationAssertion( "MIM:614814"^^xsd:string) AnnotationAssertion( "AOS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006275"^^xsd:string) AnnotationAssertion(rdfs:label "Adams-Oliver Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency) AnnotationAssertion( "MIM:235700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006276"^^xsd:string) AnnotationAssertion(rdfs:label "Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (COACH Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T10:48:46Z"^^xsd:string) AnnotationAssertion( "MIM:619111"^^xsd:string) AnnotationAssertion( "COACH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006277"^^xsd:string) AnnotationAssertion(rdfs:label "COACH Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Bethlem Myopathy 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001375"^^xsd:string) AnnotationAssertion( "COL12A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616471"^^xsd:string) AnnotationAssertion( "BTHLM2"^^xsd:string) AnnotationAssertion( "EDS, MYOPATHIC TYPE"^^xsd:string) AnnotationAssertion( "EDSMYP"^^xsd:string) AnnotationAssertion( "EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006278"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem Myopathy 2"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation, Buenos Aires Type) AnnotationAssertion( "MIM:249630"^^xsd:string) AnnotationAssertion( "MESH:C563095"^^xsd:string) AnnotationAssertion( "Mutchinick Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006279"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Buenos Aires Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies) AnnotationAssertion( "MIM:611555"^^xsd:string) AnnotationAssertion( "MESH:C566918"^^xsd:string) AnnotationAssertion( "RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE FACIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006280"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Temporomandibular Joint Disorders) AnnotationAssertion(Annotation( "MESH:D013705"^^xsd:string) "A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)"^^xsd:string) AnnotationAssertion( "EFO:0005279"^^xsd:string) AnnotationAssertion( "MESH:D013705"^^xsd:string) AnnotationAssertion( "RDO:0002690"^^xsd:string) AnnotationAssertion( "TMJ Disease"^^xsd:string) AnnotationAssertion( "TMJ Diseases"^^xsd:string) AnnotationAssertion( "TMJ Disorder"^^xsd:string) AnnotationAssertion( "TMJ Disorders"^^xsd:string) AnnotationAssertion( "Temporomandibular Disorder"^^xsd:string) AnnotationAssertion( "Temporomandibular Disorders"^^xsd:string) AnnotationAssertion( "Temporomandibular Joint Disease"^^xsd:string) AnnotationAssertion( "Temporomandibular Joint Diseases"^^xsd:string) AnnotationAssertion( "Temporomandibular Joint Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006281"^^xsd:string) AnnotationAssertion(rdfs:label "Temporomandibular Joint Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Onychotrichodysplasia and Neutropenia) AnnotationAssertion( "MIM:258360"^^xsd:string) AnnotationAssertion( "MESH:C537752"^^xsd:string) AnnotationAssertion( "Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006282"^^xsd:string) AnnotationAssertion(rdfs:label "Onychotrichodysplasia and Neutropenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Syndromic Oculocutaneous Albinism) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-22T15:14:18Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006283"^^xsd:string) AnnotationAssertion(rdfs:label "Syndromic Oculocutaneous Albinism"^^xsd:string) SubClassOf( ) # Class: (Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response) AnnotationAssertion( "MIM:300184"^^xsd:string) AnnotationAssertion( "MESH:C537159"^^xsd:string) AnnotationAssertion( "Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006284"^^xsd:string) AnnotationAssertion(rdfs:label "Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epidermal Hyperplasia) AnnotationAssertion( "An increase in the number of cells in the epidermis without tumor formation."^^xsd:string) AnnotationAssertion( "RDO:9000110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006285"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermal Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Congenital Muscular Dystrophy, Davignon-Chauveau Type) AnnotationAssertion( "TRIP4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617066"^^xsd:string) AnnotationAssertion( "Davignon-Chauveau type of congenital muscular dystrophy"^^xsd:string) AnnotationAssertion( "MDCDC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006286"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy, Davignon-Chauveau Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy) AnnotationAssertion( "MIM:250450"^^xsd:string) AnnotationAssertion( "MESH:C565395"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006287"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM) AnnotationAssertion(Annotation( "MIM:619911"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-09T15:10:20Z"^^xsd:string) AnnotationAssertion( "MIM:619911"^^xsd:string) AnnotationAssertion( "IDLDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006288"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myopia 2) AnnotationAssertion( "MIM:160700"^^xsd:string) AnnotationAssertion( "MESH:C563541"^^xsd:string) AnnotationAssertion( "MYOPIA 2, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006289"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 2"^^xsd:string) SubClassOf( ) # Class: (Central Nervous System Venous Angioma) AnnotationAssertion(Annotation( "MESH:D020787"^^xsd:string) "A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding."^^xsd:string) AnnotationAssertion( "EFO:1001774"^^xsd:string) AnnotationAssertion( "MESH:D020787"^^xsd:string) AnnotationAssertion( "RDO:0007430"^^xsd:string) AnnotationAssertion( "Cerebral Venous Angioma"^^xsd:string) AnnotationAssertion( "Cerebral Venous Angiomas"^^xsd:string) AnnotationAssertion( "Intracranial Venous Angioma"^^xsd:string) AnnotationAssertion( "Intracranial Venous Angiomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006290"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Venous Angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fat Embolism) AnnotationAssertion(Annotation( "MESH:D004620"^^xsd:string) "Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS."^^xsd:string) AnnotationAssertion( "MESH:D004620"^^xsd:string) AnnotationAssertion( "Fat Embolism Syndrome"^^xsd:string) AnnotationAssertion( "Fat Embolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006291"^^xsd:string) AnnotationAssertion(rdfs:label "Fat Embolism"^^xsd:string) SubClassOf( ) # Class: (Cerebellar Granule Cell Hypertrophy and Megalencephaly) AnnotationAssertion( "RDO:0012790"^^xsd:string) AnnotationAssertion( "MESH:C563565"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006292"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Granule Cell Hypertrophy and Megalencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukemia, Radiation-Induced) AnnotationAssertion(Annotation( "MESH:D007953"^^xsd:string) "Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION."^^xsd:string) AnnotationAssertion( "MESH:D007953"^^xsd:string) AnnotationAssertion( "RDO:0005995"^^xsd:string) AnnotationAssertion( "Radiation-Induced Leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006293"^^xsd:string) AnnotationAssertion(rdfs:label "Leukemia, Radiation-Induced"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Limb Deformities) AnnotationAssertion(Annotation( "MESH:D017880"^^xsd:string) "Congenital structural deformities of the upper and lower extremities collectively or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D017880"^^xsd:string) AnnotationAssertion( "Congenital Limb Deformity"^^xsd:string) AnnotationAssertion( "Congenital limb malformation"^^xsd:string) AnnotationAssertion( "ABNORMAL RADIAL RAY MORPHOLOGY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006294"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Limb Deformities"^^xsd:string) SubClassOf( ) # Class: (HEART AND BRAIN MALFORMATION SYNDROME) AnnotationAssertion( "MIM:616920"^^xsd:string) AnnotationAssertion( "HBMS"^^xsd:string) AnnotationAssertion( "NEDHBM"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH HEART AND BRAIN MALFORMATIONS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006295"^^xsd:string) AnnotationAssertion(rdfs:label "HEART AND BRAIN MALFORMATION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lofgren’s syndrome) AnnotationAssertion(Annotation( "EFO:0009466"^^xsd:string) "This disease is an acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy and polyarthralgia or polyarthritis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-05T11:12:47Z"^^xsd:string) AnnotationAssertion( "EFO:0009466"^^xsd:string) AnnotationAssertion( "Bilateral hilar lymph node sarcoidosis with erythema nodosum"^^xsd:string) AnnotationAssertion( "Erythema nodosum with bilateral hilar lymph node sarcoidosis"^^xsd:string) AnnotationAssertion( "LS"^^xsd:string) AnnotationAssertion( "Loefgren’s syndrome"^^xsd:string) AnnotationAssertion( "Lofgrens syndrome"^^xsd:string) AnnotationAssertion( "Löfgren’s syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006296"^^xsd:string) AnnotationAssertion(rdfs:label "Lofgren’s syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hydatidiform Mole, Recurrent, 2) AnnotationAssertion( "complete hydatidiform mole"^^xsd:string) AnnotationAssertion( "MIM:614293"^^xsd:string) AnnotationAssertion( "HYDM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006297"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole, Recurrent, 2"^^xsd:string) SubClassOf( ) # Class: (Stankiewicz-Isidor Syndrome) AnnotationAssertion(Annotation( "MIM:617516"^^xsd:string) "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617516"^^xsd:string) AnnotationAssertion( "STISS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006298"^^xsd:string) AnnotationAssertion(rdfs:label "Stankiewicz-Isidor Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Autosomal Recessive 42) AnnotationAssertion( "MIM:615802"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9"^^xsd:string) AnnotationAssertion( "GPIBD9"^^xsd:string) AnnotationAssertion( "MRT42"^^xsd:string) AnnotationAssertion( "NEDDSBA"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006299"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Autosomal Recessive 42"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts) AnnotationAssertion( "MIM:120040"^^xsd:string) AnnotationAssertion( "MESH:C536432"^^xsd:string) AnnotationAssertion( "Cochleosaccular Degeneration"^^xsd:string) AnnotationAssertion( "Cochleosaccular Degeneration of the Inner Ear with Progressive Cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006300"^^xsd:string) AnnotationAssertion(rdfs:label "Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (HEPATORENOCARDIAC DEGENERATIVE FIBROSIS) AnnotationAssertion(Annotation( "MIM:619902"^^xsd:string) "This is a primarily fibrotic disease affecting the liver, kidney, and heart. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-07-29T11:17:37Z"^^xsd:string) AnnotationAssertion( "MIM:619902"^^xsd:string) AnnotationAssertion( "HRCDF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006301"^^xsd:string) AnnotationAssertion(rdfs:label "HEPATORENOCARDIAC DEGENERATIVE FIBROSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Binge Drinking) AnnotationAssertion(Annotation( "MESH:D063425"^^xsd:string) "Drinking an excessive amount of ALCOHOLIC BEVERAGES in a short period of time."^^xsd:string) AnnotationAssertion( "MESH:D063425"^^xsd:string) AnnotationAssertion( "RDO:0012117"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006302"^^xsd:string) AnnotationAssertion(rdfs:label "Binge Drinking"^^xsd:string) SubClassOf( ) # Class: (Familial Hyperaldosteronism, Type II) AnnotationAssertion( "MIM:605635"^^xsd:string) AnnotationAssertion( "MESH:C565312"^^xsd:string) AnnotationAssertion( "FH II"^^xsd:string) AnnotationAssertion( "HALD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006303"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hyperaldosteronism, Type II"^^xsd:string) SubClassOf( ) # Class: (Cutaneous Hyperthermia with Headaches and Nausea) AnnotationAssertion( "MIM:145590"^^xsd:string) AnnotationAssertion( "MESH:C564156"^^xsd:string) AnnotationAssertion( "Farmer Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006304"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Hyperthermia with Headaches and Nausea"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tetraphocomelia-Thrombocytopenia Syndrome) AnnotationAssertion( "MESH:C564771"^^xsd:string) AnnotationAssertion( "RDO:0013623"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006305"^^xsd:string) AnnotationAssertion(rdfs:label "Tetraphocomelia-Thrombocytopenia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Apical Hypertrophic Cardiomyopathy) AnnotationAssertion( "A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as \"ace of spades\" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:20:05Z"^^xsd:string) AnnotationAssertion( "MESH:D000092183"^^xsd:string) AnnotationAssertion( "Apical Hypertrophic Cardiomyopathies"^^xsd:string) AnnotationAssertion( "Apical-Variant HCM"^^xsd:string) AnnotationAssertion( "Left Ventricular Apical Hypertrophic Cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006306"^^xsd:string) AnnotationAssertion(rdfs:label "Apical Hypertrophic Cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: (Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas) AnnotationAssertion( "MIM:127820"^^xsd:string) AnnotationAssertion( "GARD:1128"^^xsd:string) AnnotationAssertion( "MESH:C565076"^^xsd:string) AnnotationAssertion( "MONDO:0007490"^^xsd:string) AnnotationAssertion( "ORDO:2767"^^xsd:string) AnnotationAssertion( "Maroteaux-Le Merrer-Bensahel syndrome"^^xsd:string) AnnotationAssertion( "Osteochondromatosis, Dominant Carpotarsal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006307"^^xsd:string) AnnotationAssertion(rdfs:label "Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinal Cord Vascular Diseases) AnnotationAssertion(Annotation( "MESH:D020758"^^xsd:string) "Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)."^^xsd:string) AnnotationAssertion( "MESH:D020758"^^xsd:string) AnnotationAssertion( "RDO:0007424"^^xsd:string) AnnotationAssertion( "Hematomyelia"^^xsd:string) AnnotationAssertion( "Hematomyelias"^^xsd:string) AnnotationAssertion( "Posterior Spinal Artery Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006308"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Vascular Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mandibular Diseases) AnnotationAssertion(Annotation( "MESH:D008336"^^xsd:string) "Diseases involving the MANDIBLE."^^xsd:string) AnnotationAssertion( "MESH:D008336"^^xsd:string) AnnotationAssertion( "Mandibular Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006309"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibular Diseases"^^xsd:string) SubClassOf( ) # Class: (Atrial Septal Defect Ostium Primum) AnnotationAssertion( "MESH:C548006"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006310"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Septal Defect Ostium Primum"^^xsd:string) SubClassOf( ) # Class: (Lipoblastoma) AnnotationAssertion(Annotation( "MESH:D062689"^^xsd:string) "Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12."^^xsd:string) AnnotationAssertion( "MESH:D062689"^^xsd:string) AnnotationAssertion( "RDO:0012106"^^xsd:string) AnnotationAssertion( "Lipoblastomas"^^xsd:string) AnnotationAssertion( "Lipoblastomatoses"^^xsd:string) AnnotationAssertion( "Lipoblastomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006311"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoblastoma"^^xsd:string) SubClassOf( ) # Class: (Goniodysgenesis-Mental Retardation-Short Stature Syndrome) AnnotationAssertion( "MIM:138770"^^xsd:string) AnnotationAssertion( "MESH:C564214"^^xsd:string) AnnotationAssertion( "GMS Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006312"^^xsd:string) AnnotationAssertion(rdfs:label "Goniodysgenesis-Mental Retardation-Short Stature Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4) AnnotationAssertion( "MIM:615268"^^xsd:string) AnnotationAssertion( "CAMRQ4"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006313"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Bent Bone Dysplasia Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-17T08:03:21Z"^^xsd:string) AnnotationAssertion( "MIM:PS614592"^^xsd:string) AnnotationAssertion( "MONDO:0031615"^^xsd:string) AnnotationAssertion( "BBDS"^^xsd:string) AnnotationAssertion( "Bent Bone Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "familial bent bone dysplasia syndrome"^^xsd:string) AnnotationAssertion( "DOID:9006314"^^xsd:string) AnnotationAssertion(rdfs:label "Bent Bone Dysplasia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stupor) AnnotationAssertion(Annotation( "MESH:D053608"^^xsd:string) "A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY."^^xsd:string) AnnotationAssertion( "MESH:D053608"^^xsd:string) AnnotationAssertion( "Narcosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006315"^^xsd:string) AnnotationAssertion(rdfs:label "Stupor"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia 27A) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-04T13:28:31Z"^^xsd:string) AnnotationAssertion( "MIM:193003"^^xsd:string) AnnotationAssertion( "SCA27A"^^xsd:string) AnnotationAssertion( "spinocerebellar ataxia type 27A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006316"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 27A"^^xsd:string) SubClassOf( ) # Class: (Dykes Markes Harper Syndrome) AnnotationAssertion( "MIM:242520"^^xsd:string) AnnotationAssertion( "MESH:C535727"^^xsd:string) AnnotationAssertion( "Ichthyosis hepatosplenomegaly cerebellar degeneration"^^xsd:string) AnnotationAssertion( "Ichthyosis, hepatosplenomegaly, and cerebellar degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006317"^^xsd:string) AnnotationAssertion(rdfs:label "Dykes Markes Harper Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Nonpolyposis Colorectal Cancer Type 3) AnnotationAssertion( "RDO:0013083"^^xsd:string) AnnotationAssertion( "MESH:C563972"^^xsd:string) AnnotationAssertion( "HNPCC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006318"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Nonpolyposis Colorectal Cancer Type 3"^^xsd:string) SubClassOf( ) # Class: (Swine Erysipelas) AnnotationAssertion(Annotation( "MESH:D013554"^^xsd:string) "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa."^^xsd:string) AnnotationAssertion( "MESH:D013554"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006319"^^xsd:string) AnnotationAssertion(rdfs:label "Swine Erysipelas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Medial Medullary Syndrome) AnnotationAssertion( "MESH:C536134"^^xsd:string) AnnotationAssertion( "RDO:0001581"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006320"^^xsd:string) AnnotationAssertion(rdfs:label "Medial Medullary Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopathy with Lactic Acidosis, Hereditary) AnnotationAssertion( "Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)"^^xsd:string) AnnotationAssertion( "RDO:0013750"^^xsd:string) AnnotationAssertion( "MESH:C564972"^^xsd:string) AnnotationAssertion( "MIM:255125"^^xsd:string) AnnotationAssertion( "HML"^^xsd:string) AnnotationAssertion( "Iron-Sulfur Cluster Deficiency Myopathy"^^xsd:string) AnnotationAssertion( "Myoglobinuria due to Abnormal Glycolysis"^^xsd:string) AnnotationAssertion( "Myopathy with Deficiency of ISCU"^^xsd:string) AnnotationAssertion( "Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme"^^xsd:string) AnnotationAssertion( "Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase"^^xsd:string) AnnotationAssertion( "Myopathy with Exercise Intolerance, Swedish Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006323"^^xsd:string) AnnotationAssertion(rdfs:label "Myopathy with Lactic Acidosis, Hereditary"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Isolated Growth Hormone Deficiency, Partial) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-17T12:59:02Z"^^xsd:string) AnnotationAssertion( "MIM:615925"^^xsd:string) AnnotationAssertion( "GHDP"^^xsd:string) AnnotationAssertion( "short stature due to growth hormone secretagogue receptor deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006324"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Growth Hormone Deficiency, Partial"^^xsd:string) SubClassOf( ) # Class: (Ventral Hernia) AnnotationAssertion(Annotation( "MESH:D006555"^^xsd:string) "A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias."^^xsd:string) AnnotationAssertion( "MESH:D006555"^^xsd:string) AnnotationAssertion( "Ventral Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006325"^^xsd:string) AnnotationAssertion(rdfs:label "Ventral Hernia"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 78) AnnotationAssertion(Annotation( "MIM:620170"^^xsd:string) "A male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect. Caused by homozygous mutation in the IQCN gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-19T13:42:51Z"^^xsd:string) AnnotationAssertion( "MIM:620170"^^xsd:string) AnnotationAssertion( "SPGF78"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006326"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 78"^^xsd:string) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 4) AnnotationAssertion( "Autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618116"^^xsd:string) AnnotationAssertion( "BMFS4"^^xsd:string) AnnotationAssertion( "MYSM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006327"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED) AnnotationAssertion(Annotation( "MIM:301109"^^xsd:string) "This disease is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals present with highly variable symptoms. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-08-08T11:56:23Z"^^xsd:string) AnnotationAssertion( "MIM:301109"^^xsd:string) AnnotationAssertion( "ADMIDX"^^xsd:string) AnnotationAssertion( "DOCK11 DEFICIENCY"^^xsd:string) AnnotationAssertion( "INBORN ERROR OF HEMATOPOIESIS AND IMMUNITY WITH SYSTEMIC INFLAMMATION AND NORMOCYTIC ANEMIA"^^xsd:string) AnnotationAssertion( "X-linked multisystem autoinflammatory disease with immune dysregulation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006328"^^xsd:string) AnnotationAssertion(rdfs:label "AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paralytic Ectropion) AnnotationAssertion( "Eversion of the EYELID caused by paralysis of the FACIAL NERVE or palsy from loss of MUSCLE TONUS of the orbicularis oculi."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T13:00:46Z"^^xsd:string) AnnotationAssertion( "MESH:C000721269"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006329"^^xsd:string) AnnotationAssertion(rdfs:label "Paralytic Ectropion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities) AnnotationAssertion(Annotation( "MIM:619091"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-01-18T13:30:30Z"^^xsd:string) AnnotationAssertion( "MIM:619091"^^xsd:string) AnnotationAssertion( "NEDMILG"^^xsd:string) AnnotationAssertion( "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006331"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vascular Calcification) AnnotationAssertion(Annotation( "MESH:D061205"^^xsd:string) "Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels are associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS."^^xsd:string) AnnotationAssertion( "MESH:D061205"^^xsd:string) AnnotationAssertion( "RDO:0009968"^^xsd:string) AnnotationAssertion( "Vascular Calcifications"^^xsd:string) AnnotationAssertion( "Vascular Calcinoses"^^xsd:string) AnnotationAssertion( "Vascular Calcinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006332"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Calcification"^^xsd:string) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome) AnnotationAssertion(Annotation( "MIM:614748"^^xsd:string) "An autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Caused by homozygous mutation in the ITGA3 gene on chromosome 17q21."^^xsd:string) AnnotationAssertion( "MIM:614748"^^xsd:string) AnnotationAssertion( "ILNEB"^^xsd:string) AnnotationAssertion( "JEB7"^^xsd:string) AnnotationAssertion( "interstitial lung disease, nephrotic syndrome, and congenital epidermolysis bullosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006333"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wandering Spleen) AnnotationAssertion(Annotation( "MESH:D050805"^^xsd:string) "A congenital or acquired condition in which the SPLEEN is not in its normal anatomical position but moves about in the ABDOMEN. This is due to laxity or absence of suspensory ligaments which normally provide peritoneal attachments to keep the SPLEEN in a fixed position. Clinical symptoms include ABDOMINAL PAIN, splenic torsion and ISCHEMIA."^^xsd:string) AnnotationAssertion( "MESH:D050805"^^xsd:string) AnnotationAssertion( "Displaced Spleen"^^xsd:string) AnnotationAssertion( "Displaced Spleens"^^xsd:string) AnnotationAssertion( "Drifting Spleen"^^xsd:string) AnnotationAssertion( "Drifting Spleens"^^xsd:string) AnnotationAssertion( "Floating Spleen"^^xsd:string) AnnotationAssertion( "Floating Spleens"^^xsd:string) AnnotationAssertion( "Splenic Ptoses"^^xsd:string) AnnotationAssertion( "Splenic Ptosis"^^xsd:string) AnnotationAssertion( "Splenoptoses"^^xsd:string) AnnotationAssertion( "Splenoptosis"^^xsd:string) AnnotationAssertion( "Wandering Spleens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006334"^^xsd:string) AnnotationAssertion(rdfs:label "Wandering Spleen"^^xsd:string) SubClassOf( ) # Class: (Thyrotropin-Releasing Hormone Deficiency) AnnotationAssertion( "MIM:275120"^^xsd:string) AnnotationAssertion( "RDO:0010111"^^xsd:string) AnnotationAssertion( "HYPOTHALAMIC HYPOTHYROIDISM"^^xsd:string) AnnotationAssertion( "TRH DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006335"^^xsd:string) AnnotationAssertion(rdfs:label "Thyrotropin-Releasing Hormone Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemolytic Anemia with Thermal Sensitivity of Red Cells) AnnotationAssertion( "MIM:235370"^^xsd:string) AnnotationAssertion( "MESH:C565522"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006336"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolytic Anemia with Thermal Sensitivity of Red Cells"^^xsd:string) SubClassOf( ) # Class: (Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome) AnnotationAssertion( "MIM:612469"^^xsd:string) AnnotationAssertion( "MESH:C567292"^^xsd:string) AnnotationAssertion( "Chromosome 11p13-P12 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "WAGR Syndrome With Obesity"^^xsd:string) AnnotationAssertion( "WAGRO"^^xsd:string) AnnotationAssertion( "WAGRO Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006337"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trigeminal Autonomic Cephalalgias) AnnotationAssertion(Annotation( "MESH:D051303"^^xsd:string) "Primary headache disorders that show symptoms caused by the activation of the AUTONOMIC NERVOUS SYSTEM of the TRIGEMINAL NERVE. These autonomic features include redness and tearing of the EYE, nasal congestion or discharge, facial SWEATING and other symptoms. Most subgroups show unilateral cranial PAIN."^^xsd:string) AnnotationAssertion( "MESH:D051303"^^xsd:string) AnnotationAssertion( "RDO:0005226"^^xsd:string) AnnotationAssertion( "Trigeminal Autonomic Cephalalgia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006338"^^xsd:string) AnnotationAssertion(rdfs:label "Trigeminal Autonomic Cephalalgias"^^xsd:string) SubClassOf( ) # Class: (Mehta Lewis Patton Syndrome) AnnotationAssertion( "MESH:C536147"^^xsd:string) AnnotationAssertion( "Congenital heart disease, ptosis, hypodontia, and craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006339"^^xsd:string) AnnotationAssertion(rdfs:label "Mehta Lewis Patton Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pheochromocytoma Islet Cell Tumor Syndrome) AnnotationAssertion( "MIM:171420"^^xsd:string) AnnotationAssertion( "MESH:C566807"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006340"^^xsd:string) AnnotationAssertion(rdfs:label "Pheochromocytoma Islet Cell Tumor Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (C1q Deficiency 2) AnnotationAssertion(Annotation( "MIM:620321"^^xsd:string) "A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T09:04:17Z"^^xsd:string) AnnotationAssertion( "MIM:620321"^^xsd:string) AnnotationAssertion( "C1QD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006341"^^xsd:string) AnnotationAssertion(rdfs:label "C1q Deficiency 2"^^xsd:string) SubClassOf( ) # Class: (Tessadori-van Haaften Neurodevelopmental Syndrome 4) AnnotationAssertion(Annotation( "MIM:619951"^^xsd:string) "Characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Caused by heterozygous mutation in the H4C9 gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T10:53:08Z"^^xsd:string) AnnotationAssertion( "MIM:619951"^^xsd:string) AnnotationAssertion( "TEVANED4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006342"^^xsd:string) AnnotationAssertion(rdfs:label "Tessadori-van Haaften Neurodevelopmental Syndrome 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities) AnnotationAssertion( "Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy. NEDLBA is caused by heterozygous mutation in the PPP2CA gene on chromosome 5q31. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618354"^^xsd:string) AnnotationAssertion( "NEDLBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006344"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bovine Respiratory Disease Complex) AnnotationAssertion(Annotation( "MESH:D048090"^^xsd:string) "A multifactorial disease of CATTLE resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the IMMUNE SYSTEM and other host defenses and enhancing transmission of infecting agents."^^xsd:string) AnnotationAssertion( "EFO:0007180"^^xsd:string) AnnotationAssertion( "MESH:D048090"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006345"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Respiratory Disease Complex"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Steatocystoma Multiplex with Natal Teeth) AnnotationAssertion( "MIM:184510"^^xsd:string) AnnotationAssertion( "MESH:C537487"^^xsd:string) AnnotationAssertion( "Natal teeth and steatocystoma multiplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006346"^^xsd:string) AnnotationAssertion(rdfs:label "Steatocystoma Multiplex with Natal Teeth"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skeletal Defects, Genital Hypoplasia, And Mental Retardation) AnnotationAssertion( "MIM:612447"^^xsd:string) AnnotationAssertion( "MESH:C567306"^^xsd:string) AnnotationAssertion( "SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006347"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Defects, Genital Hypoplasia, And Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Total Anonychia with Microcephaly) AnnotationAssertion( "MIM:607214"^^xsd:string) AnnotationAssertion( "MESH:C564606"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006348"^^xsd:string) AnnotationAssertion(rdfs:label "Total Anonychia with Microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fusobacteriaceae Infections) AnnotationAssertion(Annotation( "MESH:D045825"^^xsd:string) "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA."^^xsd:string) AnnotationAssertion( "EFO:1001126"^^xsd:string) AnnotationAssertion( "MESH:D045825"^^xsd:string) AnnotationAssertion( "Fusobacteriaceae Infection"^^xsd:string) AnnotationAssertion( "Fusobacteriaceae infectious disease"^^xsd:string) AnnotationAssertion( "primary Fusobacteriaceae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006349"^^xsd:string) AnnotationAssertion(rdfs:label "Fusobacteriaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Baby Rattle Pelvic Dysplasia) AnnotationAssertion( "MESH:C537794"^^xsd:string) AnnotationAssertion( "RDO:0003698"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006350"^^xsd:string) AnnotationAssertion(rdfs:label "Baby Rattle Pelvic Dysplasia"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-16T12:25:25Z"^^xsd:string) AnnotationAssertion( "MIM:618492"^^xsd:string) AnnotationAssertion( "NEDMIBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006351"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Familial Hematuria 1) AnnotationAssertion(Annotation( "MIM:141200"^^xsd:string) "A benign familial hematuria caused by heterozygous mutation in the COL4A4 gene on chromosome 2q36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T08:59:31Z"^^xsd:string) AnnotationAssertion( "COL4A4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:141200"^^xsd:string) AnnotationAssertion( "BFH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006352"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Familial Hematuria 1"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypertrichosis Lanuginosa) AnnotationAssertion( "MIM:145700"^^xsd:string) AnnotationAssertion( "MESH:C538389"^^xsd:string) AnnotationAssertion( "RDO:0004365"^^xsd:string) AnnotationAssertion( "Hypertrichosis lanuginosa congenita"^^xsd:string) AnnotationAssertion( "Hypertrichosis lanuginosa universalis"^^xsd:string) AnnotationAssertion( "Hypertrichosis universalis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006353"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypertrichosis Lanuginosa"^^xsd:string) SubClassOf( ) # Class: (Colon Inflammatory Polyp) AnnotationAssertion(Annotation( "NCI:C5517"^^xsd:string) "This is a non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-07T15:01:25Z"^^xsd:string) AnnotationAssertion( "EFO:1000184"^^xsd:string) AnnotationAssertion( "colonic inflammatory polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006354"^^xsd:string) AnnotationAssertion(rdfs:label "Colon Inflammatory Polyp"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Neoplasms) AnnotationAssertion(Annotation( "MESH:D013125"^^xsd:string) "New abnormal growth of tissue in the SPINE."^^xsd:string) AnnotationAssertion( "MESH:D013125"^^xsd:string) AnnotationAssertion( "Spinal Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006356"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (UV-Sensitive Syndrome 3) AnnotationAssertion( "RDO:9000850"^^xsd:string) AnnotationAssertion( "MIM:614640"^^xsd:string) AnnotationAssertion( "NCI:C173107"^^xsd:string) AnnotationAssertion( "UVSS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006357"^^xsd:string) AnnotationAssertion(rdfs:label "UV-Sensitive Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Postoperative Cognitive Dysfunction) AnnotationAssertion( "A short-term decline in cognitive function (especially in memory and thinking) that may last from a few days to a few weeks after major surgery."^^xsd:string) AnnotationAssertion( "DOID:9000228"^^xsd:string) AnnotationAssertion( "EFO:0009954"^^xsd:string) AnnotationAssertion( "MESH:D000071257"^^xsd:string) AnnotationAssertion( "Agitated Emergence"^^xsd:string) AnnotationAssertion( "Agitations, Emergence"^^xsd:string) AnnotationAssertion( "Anesthesia Emergence Delirium"^^xsd:string) AnnotationAssertion( "Emergence Agitation"^^xsd:string) AnnotationAssertion( "Emergence Delirium"^^xsd:string) AnnotationAssertion( "Emergence Excitement"^^xsd:string) AnnotationAssertion( "POCD"^^xsd:string) AnnotationAssertion( "Post-Operative Delirium"^^xsd:string) AnnotationAssertion( "Postanesthetic Excitement"^^xsd:string) AnnotationAssertion( "postoperative confusion"^^xsd:string) AnnotationAssertion( "postoperative delirium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006358"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Cognitive Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vitamin D Deficiency) AnnotationAssertion(Annotation( "MESH:D014808"^^xsd:string) "A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)"^^xsd:string) AnnotationAssertion( "EFO:0003762"^^xsd:string) AnnotationAssertion( "MESH:D014808"^^xsd:string) AnnotationAssertion( "Vitamin D Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006359"^^xsd:string) AnnotationAssertion(rdfs:label "Vitamin D Deficiency"^^xsd:string) SubClassOf( ) # Class: (Paragangliomas with Sensorineural Hearing Loss) AnnotationAssertion( "MESH:C566831"^^xsd:string) AnnotationAssertion( "PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS"^^xsd:string) AnnotationAssertion( "Paragangliomas 1, with or without deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006360"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas with Sensorineural Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Macrocephaly Mesodermal Hamartoma Spectrum) AnnotationAssertion( "MESH:C537716"^^xsd:string) AnnotationAssertion( "Elattoproteus syndrome"^^xsd:string) AnnotationAssertion( "Hemihypertrophy and macrocephaly"^^xsd:string) AnnotationAssertion( "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly"^^xsd:string) AnnotationAssertion( "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006361"^^xsd:string) AnnotationAssertion(rdfs:label "Macrocephaly Mesodermal Hamartoma Spectrum"^^xsd:string) SubClassOf( ) # Class: (C6 Deficiency, Subtotal) AnnotationAssertion( "MESH:C567308"^^xsd:string) AnnotationAssertion( "RDO:0015417"^^xsd:string) AnnotationAssertion( "Complement Component 6 Deficiency, Subtotal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006362"^^xsd:string) AnnotationAssertion(rdfs:label "C6 Deficiency, Subtotal"^^xsd:string) SubClassOf( ) # Class: (Congenital Thrombotic Disease, due to Protein C Deficiency) AnnotationAssertion( "MESH:C535424"^^xsd:string) AnnotationAssertion( "hereditary thrombophilia, due to pc deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PROC deficiency"^^xsd:string) AnnotationAssertion( "REDUCED PROTEIN C ACTIVITY"^^xsd:string) AnnotationAssertion( "DOID:9006363"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Thrombotic Disease, due to Protein C Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hereditary Autoinflammatory Diseases) AnnotationAssertion(Annotation( "MESH:D056660"^^xsd:string) "Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES."^^xsd:string) AnnotationAssertion( "MESH:D056660"^^xsd:string) AnnotationAssertion( "Reimann periodic disease"^^xsd:string) AnnotationAssertion( "Siegal Cattan Mamou disease"^^xsd:string) AnnotationAssertion( "hereditary autoinflammation disease"^^xsd:string) AnnotationAssertion( "hereditary autoinflammation diseases"^^xsd:string) AnnotationAssertion( "hereditary autoinflammatory disease"^^xsd:string) AnnotationAssertion( "hereditary periodic fever syndromes"^^xsd:string) AnnotationAssertion( "hereditary recurrent fever"^^xsd:string) AnnotationAssertion( "hereditary recurrent fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006364"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Autoinflammatory Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cataract 50 with or without Glaucoma) AnnotationAssertion(Annotation( "MIM:620253"^^xsd:string) "A pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Caused by heterozygous mutation in the TRPM3 gene on chromosome 9q21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-20T15:37:34Z"^^xsd:string) AnnotationAssertion( "MIM:620253"^^xsd:string) AnnotationAssertion( "CTRCT50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006366"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract 50 with or without Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Radial Defect Robin Sequence) AnnotationAssertion( "MESH:C536261"^^xsd:string) AnnotationAssertion( "Bilateral radial defects, club foot deformity, micrognathia and cleft palate"^^xsd:string) AnnotationAssertion( "Bruce winship syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006367"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Defect Robin Sequence"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cutaneous Photosensitivity and Colitis, Lethal) AnnotationAssertion( "MIM:219095"^^xsd:string) AnnotationAssertion( "MESH:C536224"^^xsd:string) AnnotationAssertion( "Early cutaneous photosensitivity and severe colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006368"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Photosensitivity and Colitis, Lethal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mosaic Variegated Aneuploidy Syndrome 7) AnnotationAssertion(Annotation( "MIM:620189"^^xsd:string) "An autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Caused by compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-16T10:26:50Z"^^xsd:string) AnnotationAssertion( "MIM:620189"^^xsd:string) AnnotationAssertion( "MVA7"^^xsd:string) AnnotationAssertion( "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006369"^^xsd:string) AnnotationAssertion(rdfs:label "Mosaic Variegated Aneuploidy Syndrome 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spastic Paraplegia and Evans Syndrome) AnnotationAssertion( "MIM:601608"^^xsd:string) AnnotationAssertion( "MESH:C566652"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006370"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia and Evans Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hidradenocarcinoma) AnnotationAssertion(Annotation( "NCI:C54664"^^xsd:string) "This is a carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-06T11:56:55Z"^^xsd:string) AnnotationAssertion( "EFO:1000295"^^xsd:string) AnnotationAssertion( "MONDO:0006245"^^xsd:string) AnnotationAssertion( "clear cell eccrine carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006371"^^xsd:string) AnnotationAssertion(rdfs:label "Hidradenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Animal Helminthiasis) AnnotationAssertion(Annotation( "MESH:D006374"^^xsd:string) "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary."^^xsd:string) AnnotationAssertion( "MESH:D006374"^^xsd:string) AnnotationAssertion( "Animal Helminthiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006372"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Helminthiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia) AnnotationAssertion( "MIM:608720"^^xsd:string) AnnotationAssertion( "MESH:C563870"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006373"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Postmortem Changes) AnnotationAssertion(Annotation( "MESH:D011180"^^xsd:string) "Physiological changes that occur in bodies after death."^^xsd:string) AnnotationAssertion( "MESH:D011180"^^xsd:string) AnnotationAssertion( "Adipocere"^^xsd:string) AnnotationAssertion( "Algor Mortis"^^xsd:string) AnnotationAssertion( "Cruor"^^xsd:string) AnnotationAssertion( "Livor Mortis"^^xsd:string) AnnotationAssertion( "Postmortem Change"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006374"^^xsd:string) AnnotationAssertion(rdfs:label "Postmortem Changes"^^xsd:string) SubClassOf( ) # Class: (Amish Lethal Microcephaly) AnnotationAssertion( "MIM:607196"^^xsd:string) AnnotationAssertion( "MESH:C538247"^^xsd:string) AnnotationAssertion( "Amish microcephaly"^^xsd:string) AnnotationAssertion( "MCPHA"^^xsd:string) AnnotationAssertion( "THMD3"^^xsd:string) AnnotationAssertion( "microcephaly, Amish type"^^xsd:string) AnnotationAssertion( "thiamine metabolism dysfunction syndrome 3 (microcephaly type)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006375"^^xsd:string) AnnotationAssertion(rdfs:label "Amish Lethal Microcephaly"^^xsd:string) SubClassOf( ) # Class: (Cryofibrinogenemia) AnnotationAssertion( "MESH:C536218"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006376"^^xsd:string) AnnotationAssertion(rdfs:label "Cryofibrinogenemia"^^xsd:string) SubClassOf( ) # Class: (Mosaic Variegated Aneuploidy Syndrome 5) AnnotationAssertion(Annotation( "MIM:620184"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Caused by homozygous or compound heterozygous mutation in the SLF2 gene on chromosome 10q24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-10T08:37:10Z"^^xsd:string) AnnotationAssertion( "MIM:620184"^^xsd:string) AnnotationAssertion( "ATELS1"^^xsd:string) AnnotationAssertion( "Atelis syndrome 1"^^xsd:string) AnnotationAssertion( "MVA5"^^xsd:string) AnnotationAssertion( "POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006377"^^xsd:string) AnnotationAssertion(rdfs:label "Mosaic Variegated Aneuploidy Syndrome 5"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Hemihypertrophy) AnnotationAssertion( "MIM:133900"^^xsd:string) AnnotationAssertion( "MESH:C563014"^^xsd:string) AnnotationAssertion( "Facial Asymmetry"^^xsd:string) AnnotationAssertion( "Hemifacial Hyperplasia"^^xsd:string) AnnotationAssertion( "Hemifacial Hypertrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006378"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Hemihypertrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Follicular Cyst) AnnotationAssertion(Annotation( "MESH:D005497"^^xsd:string) "Cyst due to the occlusion of the duct of a follicle or small gland."^^xsd:string) AnnotationAssertion( "EFO:1001329"^^xsd:string) AnnotationAssertion( "MESH:D005497"^^xsd:string) AnnotationAssertion( "RDO:0002171"^^xsd:string) AnnotationAssertion( "Follicular Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006379"^^xsd:string) AnnotationAssertion(rdfs:label "Follicular Cyst"^^xsd:string) SubClassOf( ) # Class: (Bilateral Hearing Loss) AnnotationAssertion(Annotation( "MESH:D006312"^^xsd:string) "Partial hearing loss in both ears."^^xsd:string) AnnotationAssertion( "RDO:0000494"^^xsd:string) AnnotationAssertion( "MESH:D006312"^^xsd:string) AnnotationAssertion( "Bilateral Hearing Losses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006380"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Trisomy 1q42 qter) AnnotationAssertion( "MESH:C538084"^^xsd:string) AnnotationAssertion( "RDO:0004018"^^xsd:string) AnnotationAssertion( "Duplication 1q42 qter"^^xsd:string) AnnotationAssertion( "Trisomy 1q42 qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006381"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Trisomy 1q42 qter"^^xsd:string) SubClassOf( ) # Class: (X-Linked Hydrocephalus) AnnotationAssertion( "MIM:307000"^^xsd:string) AnnotationAssertion( "MESH:C536078"^^xsd:string) AnnotationAssertion( "HSAS"^^xsd:string) AnnotationAssertion( "HSAS1"^^xsd:string) AnnotationAssertion( "HYCX"^^xsd:string) AnnotationAssertion( "Hydrocephalus due to aqueductal stenosis"^^xsd:string) AnnotationAssertion( "Hydrocephalus due to congenital stenosis of aqueduct of sylvius"^^xsd:string) AnnotationAssertion( "X-linked congenital hydrocephalus"^^xsd:string) AnnotationAssertion( "X-linked aqueductal stenosis"^^xsd:string) AnnotationAssertion( "XLAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006382"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Hydrocephalus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities) AnnotationAssertion(Annotation( "MIM:620024"^^xsd:string) "An autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications. Caused by homozygous or compound heterozygous mutation in the PPFIBP1 gene on chromosome 12p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T12:53:15Z"^^xsd:string) AnnotationAssertion( "MIM:620024"^^xsd:string) AnnotationAssertion( "NEDSMBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006383"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carotid Intimal Medial Thickness 2) AnnotationAssertion( "MIM:608447"^^xsd:string) AnnotationAssertion( "CIMT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006384"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Intimal Medial Thickness 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Heart Defects, X-Linked) AnnotationAssertion( "MESH:C567444"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006385"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Scapulohumeral Muscular Dystrophy) AnnotationAssertion( "MIM:600416"^^xsd:string) AnnotationAssertion( "MESH:C562932"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006386"^^xsd:string) AnnotationAssertion(rdfs:label "Scapulohumeral Muscular Dystrophy"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Phosphate Carrier Deficiency) AnnotationAssertion( "MIM:610773"^^xsd:string) AnnotationAssertion( "MESH:C563665"^^xsd:string) AnnotationAssertion( "MPCD"^^xsd:string) AnnotationAssertion( "neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006387"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Phosphate Carrier Deficiency"^^xsd:string) SubClassOf( ) # Class: (Vulvar Vestibulitis) AnnotationAssertion(Annotation( "MESH:D054515"^^xsd:string) "Inflammation of the vulvar vestibular region at the entrance of the VAGINA, generally involving surface mucosa and submucosal vestibular glands. It is characterized by ERYTHEMA and chronic recurrent pain in this area."^^xsd:string) AnnotationAssertion( "MESH:D054515"^^xsd:string) AnnotationAssertion( "RDO:0004673"^^xsd:string) AnnotationAssertion( "Vulvar Vestibulitides"^^xsd:string) AnnotationAssertion( "Vulvar Vestibulitis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006388"^^xsd:string) AnnotationAssertion(rdfs:label "Vulvar Vestibulitis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Cord Neoplasms) AnnotationAssertion(Annotation( "MESH:D013120"^^xsd:string) "Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA."^^xsd:string) AnnotationAssertion( "EFO:0003828"^^xsd:string) AnnotationAssertion( "MESH:D013120"^^xsd:string) AnnotationAssertion( "Intramedullary Spinal Cord Neoplasms"^^xsd:string) AnnotationAssertion( "Primary Intramedullary Spinal Cord Neoplasms"^^xsd:string) AnnotationAssertion( "Spinal Cord Neoplasm"^^xsd:string) AnnotationAssertion( "Spinal Cord Neoplasms, Benign"^^xsd:string) AnnotationAssertion( "Spinal Cord Neoplasms, Malignant"^^xsd:string) AnnotationAssertion( "Spinal Cord Tumor"^^xsd:string) AnnotationAssertion( "intradural extramedullary spinal cord neoplasms"^^xsd:string) AnnotationAssertion( "spinal cord tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006391"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Cord Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anetoderma) AnnotationAssertion(Annotation( "MESH:D057088"^^xsd:string) "Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth."^^xsd:string) AnnotationAssertion( "MESH:D057088"^^xsd:string) AnnotationAssertion( "NCI:C133885"^^xsd:string) AnnotationAssertion( "Anetodermas"^^xsd:string) AnnotationAssertion( "Primary Anetoderma"^^xsd:string) AnnotationAssertion( "Primary Anetodermas"^^xsd:string) AnnotationAssertion( "Secondary Anetoderma"^^xsd:string) AnnotationAssertion( "Secondary Anetodermas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006392"^^xsd:string) AnnotationAssertion(rdfs:label "Anetoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dowling-Degos Disease 2) AnnotationAssertion( "MIM:615327"^^xsd:string) AnnotationAssertion( "DDD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006393"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos Disease 2"^^xsd:string) SubClassOf( ) # Class: (CLAPO Syndrome) AnnotationAssertion( "MIM:613089"^^xsd:string) AnnotationAssertion( "MESH:C567763"^^xsd:string) AnnotationAssertion( "Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth"^^xsd:string) AnnotationAssertion( "Clapo"^^xsd:string) AnnotationAssertion( "Lopez-Gutierrez Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006394"^^xsd:string) AnnotationAssertion(rdfs:label "CLAPO Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Copper-Overload Cirrhosis) AnnotationAssertion( "MESH:C566858"^^xsd:string) AnnotationAssertion( "RDO:0015081"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006395"^^xsd:string) AnnotationAssertion(rdfs:label "Copper-Overload Cirrhosis"^^xsd:string) SubClassOf( ) # Class: (Red Skin Pigment Anomaly of New Guinea) AnnotationAssertion( "MIM:266350"^^xsd:string) AnnotationAssertion( "MESH:C535515"^^xsd:string) AnnotationAssertion( "Red skin pigment, New Guinea type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006396"^^xsd:string) AnnotationAssertion(rdfs:label "Red Skin Pigment Anomaly of New Guinea"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia-Skin Fragility Syndrome) AnnotationAssertion( "MIM:604536"^^xsd:string) AnnotationAssertion( "OMIA:001864"^^xsd:string) AnnotationAssertion( "MESH:C536183"^^xsd:string) AnnotationAssertion( "EDSFS"^^xsd:string) AnnotationAssertion( "McGrath syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006397"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia-Skin Fragility Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rudd Klimek Syndrome) AnnotationAssertion( "MESH:C535879"^^xsd:string) AnnotationAssertion( "RDO:0001232"^^xsd:string) AnnotationAssertion( "Caudal dysgenesis familial type"^^xsd:string) AnnotationAssertion( "Familial caudal dysgenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006398"^^xsd:string) AnnotationAssertion(rdfs:label "Rudd Klimek Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mesonephroma) AnnotationAssertion(Annotation( "MESH:D008649"^^xsd:string) "A rare tumor of the female genital tract, most often the ovary, formerly considered to be derived from mesonephric rests. Two varieties are recognized: (1) clear cell carcinoma, so called because of its histologic resemblance to renal cell carcinoma, and now considered to be of muellerian duct derivation and (2) an embryonal tumor (called also ENDODERMAL SINUS TUMOR and yolk sac tumor), occurring chiefly in children. The latter variety may also arise in the testis. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D008649"^^xsd:string) AnnotationAssertion( "mesonephromas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006399"^^xsd:string) AnnotationAssertion(rdfs:label "Mesonephroma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Odontomicronychial Dysplasia) AnnotationAssertion( "MIM:601319"^^xsd:string) AnnotationAssertion( "MESH:C537741"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006402"^^xsd:string) AnnotationAssertion(rdfs:label "Odontomicronychial Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardiac Sinus Arrest) AnnotationAssertion(Annotation( "MESH:D054138"^^xsd:string) "The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST)."^^xsd:string) AnnotationAssertion( "MESH:D054138"^^xsd:string) AnnotationAssertion( "Cardiac Sinus Arrests"^^xsd:string) AnnotationAssertion( "Cardiac Sinus Pause"^^xsd:string) AnnotationAssertion( "Cardiac Sinus Pauses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006403"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Sinus Arrest"^^xsd:string) SubClassOf( ) # Class: (Tubulointerstitial Nephritis and Uveitis) AnnotationAssertion( "MIM:607665"^^xsd:string) AnnotationAssertion( "MESH:C536922"^^xsd:string) AnnotationAssertion( "Dobrin syndrome"^^xsd:string) AnnotationAssertion( "TINU syndrome"^^xsd:string) AnnotationAssertion( "Tubulointerstitial Nephritis with Uveitis"^^xsd:string) AnnotationAssertion( "Tubulointerstitial nephritis and uveitis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006404"^^xsd:string) AnnotationAssertion(rdfs:label "Tubulointerstitial Nephritis and Uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Lipase Deficiency) AnnotationAssertion( "MIM:614338"^^xsd:string) AnnotationAssertion( "NCI:C129030"^^xsd:string) AnnotationAssertion( "RDO:9000628"^^xsd:string) AnnotationAssertion( "PANCREATIC COLIPASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "PNLIPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006405"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Lipase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Xanthogranulomatous Sialadenitis) AnnotationAssertion( "MESH:C536763"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006406"^^xsd:string) AnnotationAssertion(rdfs:label "Xanthogranulomatous Sialadenitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620785"^^xsd:string) "This disease is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-12T09:45:02Z"^^xsd:string) AnnotationAssertion( "MIM:620785"^^xsd:string) AnnotationAssertion( "NEDPM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006408"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: (Piscirickettsiaceae Infections) AnnotationAssertion(Annotation( "MESH:D044225"^^xsd:string) "Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish."^^xsd:string) AnnotationAssertion( "EFO:1001397"^^xsd:string) AnnotationAssertion( "MESH:D044225"^^xsd:string) AnnotationAssertion( "RDO:0007509"^^xsd:string) AnnotationAssertion( "Piscirickettsiaceae Infection"^^xsd:string) AnnotationAssertion( "Piscirickettsioses"^^xsd:string) AnnotationAssertion( "Piscirickettsiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006409"^^xsd:string) AnnotationAssertion(rdfs:label "Piscirickettsiaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Optic Atrophy 15) AnnotationAssertion(Annotation( "MIM:620583"^^xsd:string) "Optic atrophy caused by homozygous or compound heterozygous mutation in the MCAT gene on chromosome 22q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:01:41Z"^^xsd:string) AnnotationAssertion( "MIM:620583"^^xsd:string) AnnotationAssertion( "OPA15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006410"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy 15"^^xsd:string) SubClassOf( ) # Class: (Testicular Injury) AnnotationAssertion( "Damage inflicted on a testicle as the direct or indirect result of an external force or agent."^^xsd:string) AnnotationAssertion( "testicular injuries"^^xsd:string) AnnotationAssertion( "testis injuries"^^xsd:string) AnnotationAssertion( "testis injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006411"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frontootopalatodigital Osteodysplasia) AnnotationAssertion( "MESH:C567578"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006412"^^xsd:string) AnnotationAssertion(rdfs:label "Frontootopalatodigital Osteodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 72) AnnotationAssertion(Annotation( "MIM:620439"^^xsd:string) "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features. Caused by heterozygous mutation in the SRRM2 gene on chromosome 16p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:45:20Z"^^xsd:string) AnnotationAssertion( "MIM:620439"^^xsd:string) AnnotationAssertion( "MRD72"^^xsd:string) AnnotationAssertion( "intellectual developmental disorder, autosomal dominant 72"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006413"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 72"^^xsd:string) SubClassOf( ) # Class: (Breast Cancer, Familial Male) AnnotationAssertion( "MESH:C566178"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006414"^^xsd:string) AnnotationAssertion(rdfs:label "Breast Cancer, Familial Male"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermodysplasia Verruciformis 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T13:46:07Z"^^xsd:string) AnnotationAssertion( "MIM:618231"^^xsd:string) AnnotationAssertion( "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "EV2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006415"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis 2"^^xsd:string) SubClassOf( ) # Class: (Platelet Prostacyclin Receptor Defect) AnnotationAssertion( "MIM:262875"^^xsd:string) AnnotationAssertion( "MESH:C564884"^^xsd:string) AnnotationAssertion( "Vienna-Hietzing Defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006416"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Prostacyclin Receptor Defect"^^xsd:string) SubClassOf( ) # Class: (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4) AnnotationAssertion( "A severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines. Caused by compound heterozygous mutation in the MYL9 gene on chromosome 20q11. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-23T10:56:10Z"^^xsd:string) AnnotationAssertion( "MIM:619365"^^xsd:string) AnnotationAssertion( "MMIHS4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006417"^^xsd:string) AnnotationAssertion(rdfs:label "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA) AnnotationAssertion(Annotation( "MIM:618718"^^xsd:string) "An autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-14T15:23:08Z"^^xsd:string) AnnotationAssertion( "MIM:618718"^^xsd:string) AnnotationAssertion( "EFO:0010658"^^xsd:string) AnnotationAssertion( "NEDBASH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006418"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Microcoria) AnnotationAssertion( "MIM:156600"^^xsd:string) AnnotationAssertion( "RDO:0003411"^^xsd:string) AnnotationAssertion( "MESH:C537550"^^xsd:string) AnnotationAssertion( "CHROMOSOME 13q32 DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Congenital miosis"^^xsd:string) AnnotationAssertion( "MCOR"^^xsd:string) AnnotationAssertion( "Pinhole pupils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006419"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Microcoria"^^xsd:string) SubClassOf( ) # Class: (Zellweger Leukodystrophy) AnnotationAssertion( "MESH:C531857"^^xsd:string) AnnotationAssertion( "RDO:0000245"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006420"^^xsd:string) AnnotationAssertion(rdfs:label "Zellweger Leukodystrophy"^^xsd:string) SubClassOf( ) # Class: (Feminization) AnnotationAssertion(Annotation( "MESH:D005262"^^xsd:string) "Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs."^^xsd:string) AnnotationAssertion( "MESH:D005262"^^xsd:string) AnnotationAssertion( "Feminizations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006421"^^xsd:string) AnnotationAssertion(rdfs:label "Feminization"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Duplication 1p21 p32) AnnotationAssertion( "MESH:C535364"^^xsd:string) AnnotationAssertion( "RDO:0000446"^^xsd:string) AnnotationAssertion( "Duplication 1p21 p32"^^xsd:string) AnnotationAssertion( "Trisomy 1p21 p32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006422"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Duplication 1p21 p32"^^xsd:string) SubClassOf( ) # Class: (Nephronophthisis-like Nephropathy 2) AnnotationAssertion( "An autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Caused by homozygous mutation in the SLC41A1 gene on chromosome 1q32. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-13T17:00:31Z"^^xsd:string) AnnotationAssertion( "MIM:619468"^^xsd:string) AnnotationAssertion( "NPHPL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006423"^^xsd:string) AnnotationAssertion(rdfs:label "Nephronophthisis-like Nephropathy 2"^^xsd:string) SubClassOf( ) # Class: (Cleft Lip with or without Cleft Palate, Nonsyndromic, 8) AnnotationAssertion( "MESH:C565070"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006424"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Lip with or without Cleft Palate, Nonsyndromic, 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cardiac Rhabdomyoma) AnnotationAssertion(Annotation( "NCI:C6739"^^xsd:string) "This is a well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-10T16:39:39Z"^^xsd:string) AnnotationAssertion( "EFO:1000150"^^xsd:string) AnnotationAssertion( "MONDO:0006123"^^xsd:string) AnnotationAssertion( "NCI:C6739"^^xsd:string) AnnotationAssertion( "heart rhabdomyoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006426"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Rhabdomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (QT Interval, Variation In) AnnotationAssertion( "MIM:610141"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006427"^^xsd:string) AnnotationAssertion(rdfs:label "QT Interval, Variation In"^^xsd:string) SubClassOf( ) # Class: (Hypoglossia with Situs Inversus) AnnotationAssertion( "Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported. Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes', that usually include limb defects. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:612776"^^xsd:string) AnnotationAssertion( "MESH:C567567"^^xsd:string) AnnotationAssertion( "RDO:0015614"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYPOGLOSSIA, ISOLATED"^^xsd:string) AnnotationAssertion( "DOID:9006428"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoglossia with Situs Inversus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cartwright Nelson Fryns Syndrome) AnnotationAssertion( "MESH:C535917"^^xsd:string) AnnotationAssertion( "RDO:0001285"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006429"^^xsd:string) AnnotationAssertion(rdfs:label "Cartwright Nelson Fryns Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Metaphyseal Chondrodysplasia with Retinitis Pigmentosa) AnnotationAssertion( "MIM:250410"^^xsd:string) AnnotationAssertion( "MESH:C565398"^^xsd:string) AnnotationAssertion( "RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES"^^xsd:string) AnnotationAssertion( "RPSKA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006431"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia with Retinitis Pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly, Type E) AnnotationAssertion( "MESH:C566194"^^xsd:string) AnnotationAssertion( "BDE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006432"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly, Type E"^^xsd:string) SubClassOf( ) # Class: (Cracked Tooth Syndrome) AnnotationAssertion(Annotation( "MESH:D003387"^^xsd:string) "Incomplete fracture of any part of a tooth, characterized by pain during mastication and sensitivity to heat, cold, sweet or sour tastes, and alcohol; it is often undiagnosed because the tooth is usually X-ray negative and normal to pulp vitality tests."^^xsd:string) AnnotationAssertion( "MESH:D003387"^^xsd:string) AnnotationAssertion( "Cracked Tooth Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006433"^^xsd:string) AnnotationAssertion(rdfs:label "Cracked Tooth Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hoarding Disorder) AnnotationAssertion(Annotation( "MESH:D000067836"^^xsd:string) "Disordered behavior associated with clinically significant distress or impairment in social, occupational or other important areas of functioning and persistent difficulty parting with possessions due to a perceived need to save the items and distress associated with discarding them. (from DSM-V) The quantity of collected items sets the behavior apart from normal collecting behaviors."^^xsd:string) AnnotationAssertion( "MESH:D000067836"^^xsd:string) AnnotationAssertion( "Hoarding Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006434"^^xsd:string) AnnotationAssertion(rdfs:label "Hoarding Disorder"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation Wolff Type) AnnotationAssertion( "MIM:277990"^^xsd:string) AnnotationAssertion( "MESH:C537448"^^xsd:string) AnnotationAssertion( "Wolff Zimmermann syndrome"^^xsd:string) AnnotationAssertion( "Wolff mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006435"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Wolff Type"^^xsd:string) SubClassOf( ) # Class: (Foodborne Diseases) AnnotationAssertion(Annotation( "MESH:D005517"^^xsd:string) "Acute illnesses, usually affecting the GASTROINTESTINAL TRACT, brought on by consuming contaminated food or beverages. Most of these diseases are infectious, caused by a variety of bacteria, viruses, or parasites that can be foodborne. Sometimes the diseases are caused by harmful toxins from the microbes or other chemicals present in the food. Especially in the latter case, the condition is often called food poisoning."^^xsd:string) AnnotationAssertion( "MESH:D005517"^^xsd:string) AnnotationAssertion( "Food Poisoning"^^xsd:string) AnnotationAssertion( "Food Poisonings"^^xsd:string) AnnotationAssertion( "Food borne Diseases"^^xsd:string) AnnotationAssertion( "Food borne Illnesses"^^xsd:string) AnnotationAssertion( "Food-borne Disease"^^xsd:string) AnnotationAssertion( "Foodborne Disease"^^xsd:string) AnnotationAssertion( "Foodborne Illnesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006436"^^xsd:string) AnnotationAssertion(rdfs:label "Foodborne Diseases"^^xsd:string) SubClassOf( ) # Class: (Macular Degeneration, Early-Onset) AnnotationAssertion( "FBN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616118"^^xsd:string) AnnotationAssertion( "EOMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006437"^^xsd:string) AnnotationAssertion(rdfs:label "Macular Degeneration, Early-Onset"^^xsd:string) SubClassOf( ) # Class: (Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma) AnnotationAssertion( "A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:251750"^^xsd:string) AnnotationAssertion( "MSPKA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006438"^^xsd:string) AnnotationAssertion(rdfs:label "Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Electric Burns) AnnotationAssertion(Annotation( "MESH:D002058"^^xsd:string) "Burns produced by contact with electric current or from a sudden discharge of electricity."^^xsd:string) AnnotationAssertion( "MESH:D002058"^^xsd:string) AnnotationAssertion( "Electric Burn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006439"^^xsd:string) AnnotationAssertion(rdfs:label "Electric Burns"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abdominal Pregnancy) AnnotationAssertion(Annotation( "MESH:D011269"^^xsd:string) "A type of ectopic pregnancy in which the EMBRYO, MAMMALIAN implants in the ABDOMINAL CAVITY instead of in the ENDOMETRIUM of the UTERUS."^^xsd:string) AnnotationAssertion( "MESH:D011269"^^xsd:string) AnnotationAssertion( "Abdominal Pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006441"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Pregnancy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autolysis) AnnotationAssertion(Annotation( "MESH:D001329"^^xsd:string) "The spontaneous disintegration of tissues or cells by the action of their own autogenous enzymes."^^xsd:string) AnnotationAssertion( "MESH:D001329"^^xsd:string) AnnotationAssertion( "Autolyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006443"^^xsd:string) AnnotationAssertion(rdfs:label "Autolysis"^^xsd:string) SubClassOf( ) # Class: (Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia) AnnotationAssertion( "MIM:609945"^^xsd:string) AnnotationAssertion( "MESH:C537100"^^xsd:string) AnnotationAssertion( "Brachyphalangy, polydactyly and absent tibiae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006444"^^xsd:string) AnnotationAssertion(rdfs:label "Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Amegakaryocytic Thrombocytopenia 1) AnnotationAssertion( "An autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:45:24Z"^^xsd:string) AnnotationAssertion( "MIM:604498"^^xsd:string) AnnotationAssertion( "CAMT1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006445"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Amegakaryocytic Thrombocytopenia 1"^^xsd:string) SubClassOf( ) # Class: (Battaglia Neri Syndrome) AnnotationAssertion( "MESH:C537662"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006446"^^xsd:string) AnnotationAssertion(rdfs:label "Battaglia Neri Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eye Injuries) AnnotationAssertion(Annotation( "MESH:D005131"^^xsd:string) "Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries."^^xsd:string) AnnotationAssertion( "EFO:0009485"^^xsd:string) AnnotationAssertion( "MESH:D005131"^^xsd:string) AnnotationAssertion( "RDO:0005555"^^xsd:string) AnnotationAssertion( "Eye Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006447"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification) AnnotationAssertion( "MIM:221995"^^xsd:string) AnnotationAssertion( "MESH:C565632"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006448"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chills) AnnotationAssertion(Annotation( "MESH:D023341"^^xsd:string) "The sudden sensation of being cold. It may be accompanied by SHIVERING."^^xsd:string) AnnotationAssertion( "MESH:D023341"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006449"^^xsd:string) AnnotationAssertion(rdfs:label "Chills"^^xsd:string) SubClassOf( ) # Class: (Familial Natural Short Sleep 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-11T11:18:27Z"^^xsd:string) AnnotationAssertion( "MIM:618591"^^xsd:string) AnnotationAssertion( "FNSS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006450"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Natural Short Sleep 2"^^xsd:string) SubClassOf( ) # Class: (Rud Syndrome) AnnotationAssertion( "RDO:0001231"^^xsd:string) AnnotationAssertion( "MESH:C535878"^^xsd:string) AnnotationAssertion( "Dwarfism ichthyosiform erythroderma mental deficiency syndrome"^^xsd:string) AnnotationAssertion( "Ichthyosis hypogonadism mental retardation epilepsy syndrome"^^xsd:string) AnnotationAssertion( "Ichthyosis male hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "Ichthyosis oligophrenia epilepsy syndrome"^^xsd:string) AnnotationAssertion( "Neuroichthyosis hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "Rud's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006451"^^xsd:string) AnnotationAssertion(rdfs:label "Rud Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Otodental Dysplasia) AnnotationAssertion( "MIM:166750"^^xsd:string) AnnotationAssertion( "MESH:C563482"^^xsd:string) AnnotationAssertion( "Chromosome 11q13 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Otodental Syndrome"^^xsd:string) AnnotationAssertion( "Oculootodental Syndrome"^^xsd:string) AnnotationAssertion( "Otodental Syndrome With Coloboma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006452"^^xsd:string) AnnotationAssertion(rdfs:label "Otodental Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Open Fractures) AnnotationAssertion(Annotation( "MESH:D005597"^^xsd:string) "Fractures in which there is an external wound communicating with the break of the bone."^^xsd:string) AnnotationAssertion( "MESH:D005597"^^xsd:string) AnnotationAssertion( "Compound Fracture"^^xsd:string) AnnotationAssertion( "Compound Fractures"^^xsd:string) AnnotationAssertion( "Open Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006453"^^xsd:string) AnnotationAssertion(rdfs:label "Open Fractures"^^xsd:string) SubClassOf( ) # Class: (vulvar intraepithelial neoplasia) AnnotationAssertion(Annotation( "NCI:C4756"^^xsd:string) "This disease involves intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-05T11:34:36Z"^^xsd:string) AnnotationAssertion( "EFO:0002627"^^xsd:string) AnnotationAssertion( "EFO:1000330"^^xsd:string) AnnotationAssertion( "NCI:C4756"^^xsd:string) AnnotationAssertion( "VIN"^^xsd:string) AnnotationAssertion( "intraepithelial neoplasia of vulva"^^xsd:string) AnnotationAssertion( "squamous vulvar intraepithelial neoplasia"^^xsd:string) AnnotationAssertion( "vulval intraepithelial neoplasia"^^xsd:string) AnnotationAssertion( "vulvar intraepithelial tumor"^^xsd:string) AnnotationAssertion( "Low Grade Vulvar Intraepithelial Neoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006454"^^xsd:string) AnnotationAssertion(rdfs:label "vulvar intraepithelial neoplasia"^^xsd:string) SubClassOf( ) # Class: (Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss) AnnotationAssertion( "MIM:617294"^^xsd:string) AnnotationAssertion( "EBS6"^^xsd:string) AnnotationAssertion( "EBSSH"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"^^xsd:string) AnnotationAssertion( "generalized epidermolysis bullosa simplex with scarring and hair loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006455"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss"^^xsd:string) SubClassOf( ) # Class: (Thomas Syndrome) AnnotationAssertion( "MESH:C536514"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006456"^^xsd:string) AnnotationAssertion(rdfs:label "Thomas Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities) AnnotationAssertion( "MESH:C567209"^^xsd:string) AnnotationAssertion( "RDO:0015348"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006457"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Pulmonary Lymphangiectasia) AnnotationAssertion( "MIM:265300"^^xsd:string) AnnotationAssertion( "MESH:C537727"^^xsd:string) AnnotationAssertion( "CPL"^^xsd:string) AnnotationAssertion( "pulmonary cystic lymphangiectasis"^^xsd:string) AnnotationAssertion( "pulmonary lymphangiectasia"^^xsd:string) AnnotationAssertion( "pulmonary lymphangiomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006458"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Pulmonary Lymphangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BURATTI-HAREL SYNDROME) AnnotationAssertion(Annotation( "MIM:619314"^^xsd:string) "This is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-10T18:22:11Z"^^xsd:string) AnnotationAssertion( "MIM:619314"^^xsd:string) AnnotationAssertion( "BURHAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006459"^^xsd:string) AnnotationAssertion(rdfs:label "BURATTI-HAREL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Breast Cancer Lymphedema) AnnotationAssertion(Annotation( "MESH:D000072656"^^xsd:string) "Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical or radiation breast cancer treatments (e.g., MASTECTOMY)."^^xsd:string) AnnotationAssertion( "MESH:D000072656"^^xsd:string) AnnotationAssertion( "Breast Cancer Lymphedemas"^^xsd:string) AnnotationAssertion( "Breast Cancer Related Arm Lymphedema"^^xsd:string) AnnotationAssertion( "Breast Cancer Related Lymphedema"^^xsd:string) AnnotationAssertion( "Breast Cancer Treatment Related Lymphedema"^^xsd:string) AnnotationAssertion( "Post mastectomy Lymphedema"^^xsd:string) AnnotationAssertion( "Post-mastectomy Lymphedemas"^^xsd:string) AnnotationAssertion( "Postmastectomy Lymphedema"^^xsd:string) AnnotationAssertion( "Postmastectomy Lymphedemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006460"^^xsd:string) AnnotationAssertion(rdfs:label "Breast Cancer Lymphedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coma) AnnotationAssertion(Annotation( "MESH:D003128"^^xsd:string) "A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION."^^xsd:string) AnnotationAssertion( "MESH:D003128"^^xsd:string) AnnotationAssertion( "comas"^^xsd:string) AnnotationAssertion( "comatose"^^xsd:string) AnnotationAssertion( "EPISODIC COMA"^^xsd:string) AnnotationAssertion( "pseudocoma"^^xsd:string) AnnotationAssertion( "pseudocomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006462"^^xsd:string) AnnotationAssertion(rdfs:label "Coma"^^xsd:string) SubClassOf( ) # Class: (Erythema Induratum) AnnotationAssertion(Annotation( "MESH:D004891"^^xsd:string) "A type of panniculitis characterized histologically by the presence of granulomas, vasculitis, and necrosis. It is traditionally considered to be the tuberculous counterpart of nodular vasculitis, but is now known to occur without tuberculous precedent. It is seen most commonly in adolescent and menopausal women, is initiated or exacerbated by cold weather, and typically presents as one or more recurrent erythrocyanotic nodules or plaques on the calves. The nodules may progress to form indurations, ulcerations, and scars."^^xsd:string) AnnotationAssertion( "MESH:D004891"^^xsd:string) AnnotationAssertion( "Bazin Disease"^^xsd:string) AnnotationAssertion( "Bazin's Disease"^^xsd:string) AnnotationAssertion( "Bazins Disease"^^xsd:string) AnnotationAssertion( "Tuberculosis Cutis Indurativa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006463"^^xsd:string) AnnotationAssertion(rdfs:label "Erythema Induratum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Storage of Unusual Polysaccharide) AnnotationAssertion( "MIM:263600"^^xsd:string) AnnotationAssertion( "MESH:C564877"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006464"^^xsd:string) AnnotationAssertion(rdfs:label "Storage of Unusual Polysaccharide"^^xsd:string) SubClassOf( ) # Class: (Meconium Ileus) AnnotationAssertion(Annotation( "MIM:614665"^^xsd:string) "This disease is intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium."^^xsd:string) AnnotationAssertion( "EFO:0004608"^^xsd:string) AnnotationAssertion( "MIM:614665"^^xsd:string) AnnotationAssertion( "INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY"^^xsd:string) AnnotationAssertion( "cystic fibrosis associated meconium ileus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006465"^^xsd:string) AnnotationAssertion(rdfs:label "Meconium Ileus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS) AnnotationAssertion(Annotation( "MIM:618470"^^xsd:string) "An autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-05T14:55:36Z"^^xsd:string) AnnotationAssertion( "ACTL6B-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "MIM:618470"^^xsd:string) AnnotationAssertion( "IDDSSAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006467"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS"^^xsd:string) SubClassOf( ) # Class: (Familial Burkitt's Lymphoma) AnnotationAssertion( "MESH:C538493"^^xsd:string) AnnotationAssertion( "RDO:0004445"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006468"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Burkitt's Lymphoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Enzootic Pneumonia of Calves) AnnotationAssertion(Annotation( "MESH:D048089"^^xsd:string) "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with PASTEURELLA MULTOCIDA producing a purulent BRONCHOPNEUMONIA. Sometimes present are MANNHEIMIA HAEMOLYTICA; HAEMOPHILUS SOMNUS and mycoplasma species."^^xsd:string) AnnotationAssertion( "EFO:0007256"^^xsd:string) AnnotationAssertion( "MESH:D048089"^^xsd:string) AnnotationAssertion( "Enzootic Calf Pneumonia"^^xsd:string) AnnotationAssertion( "Enzootic Calf Pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006470"^^xsd:string) AnnotationAssertion(rdfs:label "Enzootic Pneumonia of Calves"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 106) AnnotationAssertion(Annotation( "MIM:619935"^^xsd:string) "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-01T12:38:03Z"^^xsd:string) AnnotationAssertion( "MIM:619935"^^xsd:string) AnnotationAssertion( "IFNAR1 deficiency"^^xsd:string) AnnotationAssertion( "IMD106"^^xsd:string) AnnotationAssertion( "immunodeficiency 106, susceptibility to viral infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006471"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 106"^^xsd:string) SubClassOf( ) # Class: (Pseudoarthrogryposis) AnnotationAssertion( "MIM:177300"^^xsd:string) AnnotationAssertion( "MESH:C566753"^^xsd:string) AnnotationAssertion( "ankylosis at elbow and knee"^^xsd:string) AnnotationAssertion( "hereditary congenital rigidity of elbows and knees"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006472"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoarthrogryposis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bilateral Vestibulopathy) AnnotationAssertion(Annotation( "MESH:D000071699"^^xsd:string) "Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring."^^xsd:string) AnnotationAssertion( "MESH:D000071699"^^xsd:string) AnnotationAssertion( "RDO:0016070"^^xsd:string) AnnotationAssertion( "Bilateral Vestibular Deficiency"^^xsd:string) AnnotationAssertion( "Bilateral Vestibular Insufficiency"^^xsd:string) AnnotationAssertion( "Bilateral Vestibular Loss"^^xsd:string) AnnotationAssertion( "Vestibular Areflexia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006473"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Vestibulopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arterial Occlusive Diseases) AnnotationAssertion(Annotation( "MESH:D001157"^^xsd:string) "Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency."^^xsd:string) AnnotationAssertion( "RDO:0004908"^^xsd:string) AnnotationAssertion( "EFO:0009085"^^xsd:string) AnnotationAssertion( "MESH:D001157"^^xsd:string) AnnotationAssertion( "Arterial Obstructive Diseases"^^xsd:string) AnnotationAssertion( "arterial obstructive disease"^^xsd:string) AnnotationAssertion( "arterial occlusive disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ANTICHYMOTRYPSIN ISEHARA 1"^^xsd:string) AnnotationAssertion( "DOID:9006474"^^xsd:string) AnnotationAssertion(rdfs:label "Arterial Occlusive Diseases"^^xsd:string) SubClassOf( ) # Class: (Glycoprotein Storage Disease) AnnotationAssertion( "MIM:232900"^^xsd:string) AnnotationAssertion( "MESH:C565538"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006475"^^xsd:string) AnnotationAssertion(rdfs:label "Glycoprotein Storage Disease"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia with Epilepsy) AnnotationAssertion( "MESH:C564395"^^xsd:string) AnnotationAssertion( "RDO:0013375"^^xsd:string) AnnotationAssertion( "Myoclonic Epilepsy Myopathy Sensory Ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006476"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia with Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trilogy of Fallot) AnnotationAssertion(Annotation( "MESH:D014286"^^xsd:string) "A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY."^^xsd:string) AnnotationAssertion( "EFO:1001439"^^xsd:string) AnnotationAssertion( "MESH:D014286"^^xsd:string) AnnotationAssertion( "Fallot Trilogy"^^xsd:string) AnnotationAssertion( "Fallot's Trilogy"^^xsd:string) AnnotationAssertion( "Fallots Trilogy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006477"^^xsd:string) AnnotationAssertion(rdfs:label "Trilogy of Fallot"^^xsd:string) SubClassOf( ) # Class: (Amyloid Neuropathies) AnnotationAssertion(Annotation( "MESH:D017772"^^xsd:string) "Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)"^^xsd:string) AnnotationAssertion( "MESH:D017772"^^xsd:string) AnnotationAssertion( "Amyloid Neuropathy"^^xsd:string) AnnotationAssertion( "Amyloid Polyneuropathies"^^xsd:string) AnnotationAssertion( "Amyloid Polyneuropathy"^^xsd:string) AnnotationAssertion( "Secondary Amyloid Neuropathies"^^xsd:string) AnnotationAssertion( "Secondary Amyloid Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006478"^^xsd:string) AnnotationAssertion(rdfs:label "Amyloid Neuropathies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Humeroradial Multiple Synostosis Syndrome) AnnotationAssertion( "MESH:C565509"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006479"^^xsd:string) AnnotationAssertion(rdfs:label "Humeroradial Multiple Synostosis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Delayed Cranial Ossification due to CBFB Haploinsufficiency) AnnotationAssertion( "MESH:C565160"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006480"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Cranial Ossification due to CBFB Haploinsufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Imerslund-Grasbeck Syndrome 1) AnnotationAssertion( "MIM:261100"^^xsd:string) AnnotationAssertion( "OMIA:000565"^^xsd:string) AnnotationAssertion( "OMIA:001786"^^xsd:string) AnnotationAssertion( "MESH:C538556"^^xsd:string) AnnotationAssertion( "Enterocyte intrinsic factor receptor, defect of"^^xsd:string) AnnotationAssertion( "Imerslund-Gräsbeck syndrome 1"^^xsd:string) AnnotationAssertion( "MGA1"^^xsd:string) AnnotationAssertion( "RH-MGA1"^^xsd:string) AnnotationAssertion( "enterocyte cobalamin malabsorption"^^xsd:string) AnnotationAssertion( "juvenile pernicious anemia due to selective intestinal malabsorption of vitamin B12, with proteinuria"^^xsd:string) AnnotationAssertion( "megaloblastic anemia 1"^^xsd:string) AnnotationAssertion( "megaloblastic anemia-1, Finnish type"^^xsd:string) AnnotationAssertion( "recessive hereditary megaloblastic anemia 1"^^xsd:string) AnnotationAssertion( "Intestinal cobalamin malabsorption, CUBN-related"^^xsd:string) AnnotationAssertion( "intestinal cobalamin malabsorption due to CUBN mutation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006481"^^xsd:string) AnnotationAssertion(rdfs:label "Imerslund-Grasbeck Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Function) AnnotationAssertion( "MIM:608852"^^xsd:string) AnnotationAssertion( "LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED"^^xsd:string) AnnotationAssertion( "PLF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006482"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Function"^^xsd:string) SubClassOf( ) # Class: (Retinal Neoplasms) AnnotationAssertion(Annotation( "MESH:D019572"^^xsd:string) "Tumors or cancer of the RETINA."^^xsd:string) AnnotationAssertion( "EFO:1000509"^^xsd:string) AnnotationAssertion( "MESH:D019572"^^xsd:string) AnnotationAssertion( "neoplasm of retina"^^xsd:string) AnnotationAssertion( "retinal neoplasm"^^xsd:string) AnnotationAssertion( "retinal tumor"^^xsd:string) AnnotationAssertion( "retinal tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006483"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity) AnnotationAssertion( "MIM:615281"^^xsd:string) AnnotationAssertion( "RDO:9000890"^^xsd:string) AnnotationAssertion( "ASPARTYL-tRNA SYNTHETASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "HBSL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006484"^^xsd:string) AnnotationAssertion(rdfs:label "Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyper-IgE Recurrent Infection Syndrome 6) AnnotationAssertion(Annotation( "MIM:620532"^^xsd:string) "An autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Caused by heterozygous gain-of-function mutation in the STAT6 gene on chromosome 12q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-09T10:47:27Z"^^xsd:string) AnnotationAssertion( "MIM:620532"^^xsd:string) AnnotationAssertion( "HIES6"^^xsd:string) AnnotationAssertion( "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006485"^^xsd:string) AnnotationAssertion(rdfs:label "Hyper-IgE Recurrent Infection Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Vertebral Hypoplasia with Lumbar Kyphosis) AnnotationAssertion( "MIM:192900"^^xsd:string) AnnotationAssertion( "MESH:C566002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006486"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral Hypoplasia with Lumbar Kyphosis"^^xsd:string) SubClassOf( ) # Class: (Reoviridae Infections) AnnotationAssertion(Annotation( "MESH:D012088"^^xsd:string) "Infections produced by reoviruses, general or unspecified."^^xsd:string) AnnotationAssertion( "EFO:0007464"^^xsd:string) AnnotationAssertion( "MESH:D012088"^^xsd:string) AnnotationAssertion( "Reoviridae Infection"^^xsd:string) AnnotationAssertion( "Reoviridae infectious disease"^^xsd:string) AnnotationAssertion( "Reovirus Infection"^^xsd:string) AnnotationAssertion( "Reovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006487"^^xsd:string) AnnotationAssertion(rdfs:label "Reoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Chromosome 4, Monosomy 4p14 p16) AnnotationAssertion( "MESH:C537638"^^xsd:string) AnnotationAssertion( "Deletion 4p14 p16"^^xsd:string) AnnotationAssertion( "Monosomy 4p14 p16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006488"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Monosomy 4p14 p16"^^xsd:string) SubClassOf( ) # Class: (Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia) AnnotationAssertion( "MIM:226110"^^xsd:string) AnnotationAssertion( "MESH:C565591"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006489"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lupus Vulgaris) AnnotationAssertion(Annotation( "MESH:D008177"^^xsd:string) "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa."^^xsd:string) AnnotationAssertion( "EFO:1001023"^^xsd:string) AnnotationAssertion( "MESH:D008177"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006490"^^xsd:string) AnnotationAssertion(rdfs:label "Lupus Vulgaris"^^xsd:string) SubClassOf( ) # Class: (pemphigus vegetans) AnnotationAssertion(Annotation( "NCI:C34910"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Pemphigus_vegetans"^^xsd:string) "This is a rare, localized, benign variant of pemphigus vulgaris, an autoimmune blistering disorder. There is a localized vegetating papillomatous response in this variant."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-23T17:15:09Z"^^xsd:string) AnnotationAssertion( "EFO:0008613"^^xsd:string) AnnotationAssertion( "P Veg"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006491"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus vegetans"^^xsd:string) SubClassOf( ) # Class: (Glycogen Storage Disease IIID) AnnotationAssertion( "MESH:C566892"^^xsd:string) AnnotationAssertion( "GSD IIID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006492"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease IIID"^^xsd:string) SubClassOf( ) # Class: (Glandular and Epithelial Neoplasms) AnnotationAssertion(Annotation( "MESH:D009375"^^xsd:string) "Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue."^^xsd:string) AnnotationAssertion( "EFO:0006858"^^xsd:string) AnnotationAssertion( "MESH:D009375"^^xsd:string) AnnotationAssertion( "Epithelial Neoplasms"^^xsd:string) AnnotationAssertion( "Glandular Epithelial Neoplasm"^^xsd:string) AnnotationAssertion( "Glandular Epithelial Neoplasms"^^xsd:string) AnnotationAssertion( "Glandular Neoplasm"^^xsd:string) AnnotationAssertion( "epithelial neoplasm"^^xsd:string) AnnotationAssertion( "glandular neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006493"^^xsd:string) AnnotationAssertion(rdfs:label "Glandular and Epithelial Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Follicular Thyroid Cancer) AnnotationAssertion( "MIM:188470"^^xsd:string) AnnotationAssertion( "RDO:0012092"^^xsd:string) AnnotationAssertion( "MESH:C572845"^^xsd:string) AnnotationAssertion( "NMTC2"^^xsd:string) AnnotationAssertion( "THYROID CANCER, NONMEDULLARY, 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006494"^^xsd:string) AnnotationAssertion(rdfs:label "Follicular Thyroid Cancer"^^xsd:string) SubClassOf( ) # Class: (Coxa Magna) AnnotationAssertion(Annotation( "MESH:D000070603"^^xsd:string) "Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA."^^xsd:string) AnnotationAssertion( "MESH:D000070603"^^xsd:string) AnnotationAssertion( "Coxa Magnas"^^xsd:string) AnnotationAssertion( "Femoral Head Deformities"^^xsd:string) AnnotationAssertion( "Femoral Head Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006495"^^xsd:string) AnnotationAssertion(rdfs:label "Coxa Magna"^^xsd:string) SubClassOf( ) # Class: (Lordosis) AnnotationAssertion(Annotation( "MESH:D008141"^^xsd:string) "The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL)."^^xsd:string) AnnotationAssertion( "MESH:D008141"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006496"^^xsd:string) AnnotationAssertion(rdfs:label "Lordosis"^^xsd:string) SubClassOf( ) # Class: (Progressive Interstitial Pneumonia of Sheep) AnnotationAssertion(Annotation( "MESH:D011021"^^xsd:string) "Chronic respiratory disease caused by the VISNA-MAEDI VIRUS. It was formerly believed to be identical with jaagsiekte (PULMONARY ADENOMATOSIS, OVINE) but is now recognized as a separate entity."^^xsd:string) AnnotationAssertion( "MESH:D011021"^^xsd:string) AnnotationAssertion( "Maedi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006497"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Interstitial Pneumonia of Sheep"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Lifelong Persistent Fever) AnnotationAssertion( "MIM:228400"^^xsd:string) AnnotationAssertion( "MESH:C565569"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006498"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Lifelong Persistent Fever"^^xsd:string) SubClassOf( ) # Class: (Chilaiditi Syndrome) AnnotationAssertion(Annotation( "MESH:D059269"^^xsd:string) "Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition."^^xsd:string) AnnotationAssertion( "EFO:1001776"^^xsd:string) AnnotationAssertion( "MESH:D059269"^^xsd:string) AnnotationAssertion( "RDO:0010005"^^xsd:string) AnnotationAssertion( "Chilaiditi Anomaly"^^xsd:string) AnnotationAssertion( "Chilaiditi's Anomaly"^^xsd:string) AnnotationAssertion( "Chilaiditi's Syndrome"^^xsd:string) AnnotationAssertion( "Chilaiditis Anomaly"^^xsd:string) AnnotationAssertion( "Chilaiditis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006499"^^xsd:string) AnnotationAssertion(rdfs:label "Chilaiditi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Psychotic Affective Disorders) AnnotationAssertion(Annotation( "MESH:D000341"^^xsd:string) "Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc."^^xsd:string) AnnotationAssertion( "MESH:D000341"^^xsd:string) AnnotationAssertion( "Affective Psychoses"^^xsd:string) AnnotationAssertion( "Psychotic Affective Disorder"^^xsd:string) AnnotationAssertion( "psychotic mood disorder"^^xsd:string) AnnotationAssertion( "psychotic mood disorders"^^xsd:string) AnnotationAssertion( "psychotic reactive depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006501"^^xsd:string) AnnotationAssertion(rdfs:label "Psychotic Affective Disorders"^^xsd:string) SubClassOf( ) # Class: (Congenital Micromelic Dysplasia with Dislocation of Radius) AnnotationAssertion( "MESH:C537557"^^xsd:string) AnnotationAssertion( "Micromelic dysplasia dislocation of radius"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006502"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Micromelic Dysplasia with Dislocation of Radius"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemifacial Spasm, Familial) AnnotationAssertion( "MIM:141405"^^xsd:string) AnnotationAssertion( "MESH:C564198"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006503"^^xsd:string) AnnotationAssertion(rdfs:label "Hemifacial Spasm, Familial"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Jamaican Vomiting Sickness) AnnotationAssertion( "MESH:C537562"^^xsd:string) AnnotationAssertion( "Ackee poisoning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006505"^^xsd:string) AnnotationAssertion(rdfs:label "Jamaican Vomiting Sickness"^^xsd:string) SubClassOf( ) # Class: (Narcolepsy 7) AnnotationAssertion( "MIM:614250"^^xsd:string) AnnotationAssertion( "NRCLP7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006506"^^xsd:string) AnnotationAssertion(rdfs:label "Narcolepsy 7"^^xsd:string) SubClassOf( ) # Class: (Marfanoid Habitus with Microcephaly and Glomerulonephritis) AnnotationAssertion( "MIM:248760"^^xsd:string) AnnotationAssertion( "MESH:C565411"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006507"^^xsd:string) AnnotationAssertion(rdfs:label "Marfanoid Habitus with Microcephaly and Glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardiac Conduction Defect, Nonprogressive) AnnotationAssertion( "MESH:C566186"^^xsd:string) AnnotationAssertion( "RDO:0014621"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006508"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Conduction Defect, Nonprogressive"^^xsd:string) SubClassOf( ) # Class: (Segmentation Syndrome 1) AnnotationAssertion( "MESH:C537538"^^xsd:string) AnnotationAssertion( "RDO:0003397"^^xsd:string) AnnotationAssertion( "Klippel-Feil syndrome with laryngeal malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006509"^^xsd:string) AnnotationAssertion(rdfs:label "Segmentation Syndrome 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Xerostomia) AnnotationAssertion(Annotation( "MESH:D014987"^^xsd:string) "Decreased salivary flow."^^xsd:string) AnnotationAssertion( "EFO:0009869"^^xsd:string) AnnotationAssertion( "MESH:D014987"^^xsd:string) AnnotationAssertion( "Asialia"^^xsd:string) AnnotationAssertion( "Asialias"^^xsd:string) AnnotationAssertion( "Hyposalivation"^^xsd:string) AnnotationAssertion( "Hyposalivations"^^xsd:string) AnnotationAssertion( "Mouth Dryness"^^xsd:string) AnnotationAssertion( "Xerostomias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006511"^^xsd:string) AnnotationAssertion(rdfs:label "Xerostomia"^^xsd:string) SubClassOf( ) # Class: (Parkinson's Disease 10) AnnotationAssertion( "MIM:606852"^^xsd:string) AnnotationAssertion( "MESH:C564653"^^xsd:string) AnnotationAssertion( "RDO:0013538"^^xsd:string) AnnotationAssertion( "AAOPD"^^xsd:string) AnnotationAssertion( "PARK10"^^xsd:string) AnnotationAssertion( "Parkinson Disease 10"^^xsd:string) AnnotationAssertion( "Parkinson Disease, Age At Onset Of"^^xsd:string) AnnotationAssertion( "Parkinson's Disease, Age At Onset Of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006512"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 10"^^xsd:string) SubClassOf( ) # Class: (Oocyte Maturation Defect 1) AnnotationAssertion( "MIM:615774"^^xsd:string) AnnotationAssertion( "OOMD"^^xsd:string) AnnotationAssertion( "OOMD1"^^xsd:string) AnnotationAssertion( "OZEMA1"^^xsd:string) AnnotationAssertion( "Oocyte/zygote/embryo maturation arrest 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006513"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte Maturation Defect 1"^^xsd:string) SubClassOf( ) # Class: (Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection) AnnotationAssertion( "RDO:0008919"^^xsd:string) AnnotationAssertion( "MIM:604201"^^xsd:string) AnnotationAssertion( "SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Severe Hepatic Fibrosis, Susceptibility to, due to Schistosoma Mansoni Infection"^^xsd:string) AnnotationAssertion( "DOID:9006514"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Contagious Pleuropneumonia) AnnotationAssertion(Annotation( "MESH:D011002"^^xsd:string) "A pleuropneumonia of cattle and goats caused by species of MYCOPLASMA."^^xsd:string) AnnotationAssertion( "EFO:0007221"^^xsd:string) AnnotationAssertion( "MESH:D011002"^^xsd:string) AnnotationAssertion( "Contagious Pleuropneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006515"^^xsd:string) AnnotationAssertion(rdfs:label "Contagious Pleuropneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prosthesis-Related Infections) AnnotationAssertion(Annotation( "MESH:D016459"^^xsd:string) "Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)."^^xsd:string) AnnotationAssertion( "EFO:1001406"^^xsd:string) AnnotationAssertion( "MESH:D016459"^^xsd:string) AnnotationAssertion( "RDO:0006956"^^xsd:string) AnnotationAssertion( "Prosthesis-Related Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006516"^^xsd:string) AnnotationAssertion(rdfs:label "Prosthesis-Related Infections"^^xsd:string) SubClassOf( ) # Class: (Chromosome 18, Tetrasomy 18p) AnnotationAssertion( "MIM:614290"^^xsd:string) AnnotationAssertion( "MESH:C538306"^^xsd:string) AnnotationAssertion( "18p Isochromosome"^^xsd:string) AnnotationAssertion( "18p Tetrasomy"^^xsd:string) AnnotationAssertion( "Isochromosome 18p syndrome"^^xsd:string) AnnotationAssertion( "Tetrasomy, Short Arm of Chromosome 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006517"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18, Tetrasomy 18p"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS) AnnotationAssertion(Annotation( "MIM:620065"^^xsd:string) "This disease is characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-06T10:14:20Z"^^xsd:string) AnnotationAssertion( "MIM:620065"^^xsd:string) AnnotationAssertion( "DEDBANP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006518"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Generalized Epidermolysis Bullosa Simplex 1D) AnnotationAssertion( "MIM:601001"^^xsd:string) AnnotationAssertion( "MESH:C563408"^^xsd:string) AnnotationAssertion( "EBS1D"^^xsd:string) AnnotationAssertion( "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EBSB1"^^xsd:string) AnnotationAssertion( "DOID:9006519"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epidermolysis Bullosa Simplex 1D"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Distal Arthrogryposis Type 2) AnnotationAssertion( "MESH:C535379"^^xsd:string) AnnotationAssertion( "Distal Arthrogryposis Multiplex Congenita, Type 2"^^xsd:string) AnnotationAssertion( "congenital contractures with major involvement of the hands and feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006523"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis Type 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Distemper) AnnotationAssertion(Annotation( "MESH:D004216"^^xsd:string) "A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA."^^xsd:string) AnnotationAssertion( "MESH:D004216"^^xsd:string) AnnotationAssertion( "Canine Distemper"^^xsd:string) AnnotationAssertion( "Canine Distempers"^^xsd:string) AnnotationAssertion( "Distempers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006525"^^xsd:string) AnnotationAssertion(rdfs:label "Distemper"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dictyocaulus Infections) AnnotationAssertion(Annotation( "MESH:D004022"^^xsd:string) "Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation."^^xsd:string) AnnotationAssertion( "EFO:0007235"^^xsd:string) AnnotationAssertion( "MESH:D004022"^^xsd:string) AnnotationAssertion( "Dictyocauliases"^^xsd:string) AnnotationAssertion( "Dictyocauliasis"^^xsd:string) AnnotationAssertion( "Dictyocaulus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006526"^^xsd:string) AnnotationAssertion(rdfs:label "Dictyocaulus Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lentiginosis Profusa) AnnotationAssertion( "MIM:151001"^^xsd:string) AnnotationAssertion( "MESH:C573023"^^xsd:string) AnnotationAssertion( "diffuse lentiginosis"^^xsd:string) AnnotationAssertion( "familial lentigines profusa"^^xsd:string) AnnotationAssertion( "familial multiple lentigines syndrome without systemic involvement"^^xsd:string) AnnotationAssertion( "generalized lentiginosis"^^xsd:string) AnnotationAssertion( "inherited patterned lentiginosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006527"^^xsd:string) AnnotationAssertion(rdfs:label "Lentiginosis Profusa"^^xsd:string) SubClassOf( ) # Class: (Malignant Catarrh) AnnotationAssertion(Annotation( "MESH:D008304"^^xsd:string) "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte."^^xsd:string) AnnotationAssertion( "MESH:D008304"^^xsd:string) AnnotationAssertion( "Malignant Catarrhal Fever"^^xsd:string) AnnotationAssertion( "Malignant Catarrhal Fevers"^^xsd:string) AnnotationAssertion( "Malignant Catarrhs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006528"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Catarrh"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniofacioskeletal Syndrome) AnnotationAssertion( "MIM:300712"^^xsd:string) AnnotationAssertion( "MESH:C567471"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006529"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacioskeletal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (46,Xy True Hermaphroditism, Sry-Related) AnnotationAssertion( "MESH:C567575"^^xsd:string) AnnotationAssertion( "RDO:0015622"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006530"^^xsd:string) AnnotationAssertion(rdfs:label "46,Xy True Hermaphroditism, Sry-Related"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hematologic Neoplasms) AnnotationAssertion(Annotation( "MESH:D019337"^^xsd:string) "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES."^^xsd:string) AnnotationAssertion( "EFO:1000201"^^xsd:string) AnnotationAssertion( "MESH:D019337"^^xsd:string) AnnotationAssertion( "Hematological Neoplasms"^^xsd:string) AnnotationAssertion( "Hematopoietic Malignancies"^^xsd:string) AnnotationAssertion( "Hematopoietic Malignancy"^^xsd:string) AnnotationAssertion( "hematologic neoplasm"^^xsd:string) AnnotationAssertion( "hematological neoplasm"^^xsd:string) AnnotationAssertion( "hematopoietic neoplasm"^^xsd:string) AnnotationAssertion( "hematopoietic neoplasms"^^xsd:string) AnnotationAssertion( "Common Hematopoietic Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006532"^^xsd:string) AnnotationAssertion(rdfs:label "Hematologic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 6, Monosomy 6p23) AnnotationAssertion( "MESH:C537765"^^xsd:string) AnnotationAssertion( "RDO:0003663"^^xsd:string) AnnotationAssertion( "Deletion 6p23"^^xsd:string) AnnotationAssertion( "Monosomy 6p23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006533"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Monosomy 6p23"^^xsd:string) SubClassOf( ) # Class: (Nervous System Malformations) AnnotationAssertion(Annotation( "MESH:D009421"^^xsd:string) "Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis."^^xsd:string) AnnotationAssertion( "MESH:D009421"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE NERVOUS SYSTEM"^^xsd:string) AnnotationAssertion( "Congenital Anomalies, Nervous System"^^xsd:string) AnnotationAssertion( "Cranioschises"^^xsd:string) AnnotationAssertion( "Cranioschisis"^^xsd:string) AnnotationAssertion( "Nervous System Abnormalities"^^xsd:string) AnnotationAssertion( "Nervous System Abnormality"^^xsd:string) AnnotationAssertion( "Nervous System Anomalies"^^xsd:string) AnnotationAssertion( "Nervous System Anomaly"^^xsd:string) AnnotationAssertion( "Nervous System Congenital Abnormalities"^^xsd:string) AnnotationAssertion( "Nervous System Congenital Malformations"^^xsd:string) AnnotationAssertion( "Nervous System Malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006534"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hookworm Infections) AnnotationAssertion(Annotation( "MESH:D006725"^^xsd:string) "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available."^^xsd:string) AnnotationAssertion( "EFO:0007314"^^xsd:string) AnnotationAssertion( "MESH:D006725"^^xsd:string) AnnotationAssertion( "RDO:0004827"^^xsd:string) AnnotationAssertion( "Bunostomiases"^^xsd:string) AnnotationAssertion( "Bunostomiasis"^^xsd:string) AnnotationAssertion( "Hookworm Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006535"^^xsd:string) AnnotationAssertion(rdfs:label "Hookworm Infections"^^xsd:string) SubClassOf( ) # Class: (Retropharyngeal Abscess) AnnotationAssertion(Annotation( "MESH:D017703"^^xsd:string) "An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries."^^xsd:string) AnnotationAssertion( "EFO:1001415"^^xsd:string) AnnotationAssertion( "MESH:D017703"^^xsd:string) AnnotationAssertion( "Retropharyngeal Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006536"^^xsd:string) AnnotationAssertion(rdfs:label "Retropharyngeal Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Supratentorial Neoplasms) AnnotationAssertion(Annotation( "MESH:D015173"^^xsd:string) "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation."^^xsd:string) AnnotationAssertion( "MESH:D015173"^^xsd:string) AnnotationAssertion( "Benign Supratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Benign Supratentorial Neoplasms"^^xsd:string) AnnotationAssertion( "Malignant Supratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Supratentorial Neoplasms"^^xsd:string) AnnotationAssertion( "Primary Supratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Primary Supratentorial Neoplasms"^^xsd:string) AnnotationAssertion( "Supratentorial Neoplasm"^^xsd:string) AnnotationAssertion( "Supratentorial Tumor"^^xsd:string) AnnotationAssertion( "Supratentorial Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006537"^^xsd:string) AnnotationAssertion(rdfs:label "Supratentorial Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Agricultural Workers' Diseases) AnnotationAssertion(Annotation( "MESH:D000382"^^xsd:string) "Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops."^^xsd:string) AnnotationAssertion( "MESH:D000382"^^xsd:string) AnnotationAssertion( "RDO:0004785"^^xsd:string) AnnotationAssertion( "Agricultural Worker Disease"^^xsd:string) AnnotationAssertion( "Agricultural Worker Diseases"^^xsd:string) AnnotationAssertion( "Agricultural Worker's Disease"^^xsd:string) AnnotationAssertion( "Agricultural Worker's Diseases"^^xsd:string) AnnotationAssertion( "Agricultural Workers Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006538"^^xsd:string) AnnotationAssertion(rdfs:label "Agricultural Workers' Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 14q, Terminal Duplication) AnnotationAssertion( "MESH:C538034"^^xsd:string) AnnotationAssertion( "Duplication 14qter"^^xsd:string) AnnotationAssertion( "Trisomy 14qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006541"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14q, Terminal Duplication"^^xsd:string) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 26) AnnotationAssertion(Annotation( "MIM:619179"^^xsd:string) "Characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMNB1 gene on chromosome 5q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-22T17:39:47Z"^^xsd:string) AnnotationAssertion( "LMNB1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619179"^^xsd:string) AnnotationAssertion( "MCPH26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "DOID:9006542"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 26"^^xsd:string) SubClassOf( ) # Class: (Facial Palsy, Familial Recurrent Peripheral) AnnotationAssertion( "MIM:134200"^^xsd:string) AnnotationAssertion( "MESH:C565028"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006543"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Palsy, Familial Recurrent Peripheral"^^xsd:string) SubClassOf( ) # Class: (Hypoglossia-Hypodactylia) AnnotationAssertion( "MIM:103300"^^xsd:string) AnnotationAssertion( "MESH:C566308"^^xsd:string) AnnotationAssertion( "Aglossia-Adactylia"^^xsd:string) AnnotationAssertion( "Oromandibular Limb Hypoplasia"^^xsd:string) AnnotationAssertion( "Peromelia with Micrognathism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006544"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoglossia-Hypodactylia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diabetic Bone Disease) AnnotationAssertion( "Pathophysiological condition(s) of bone(s), as a result of diabetes mellitus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-27T12:09:56Z"^^xsd:string) AnnotationAssertion( "diabetic osteopathy"^^xsd:string) AnnotationAssertion( "diabetic osteoporosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006545"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Bone Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Refeeding Syndrome) AnnotationAssertion(Annotation( "MESH:D055677"^^xsd:string) "A condition of metabolic imbalance that is caused by complications of initially feeding a severely malnourished patient too aggressively. Usually occurring within the first 5 days of refeeding, this syndrome is characterized by WATER-ELECTROLYTE IMBALANCE; GLUCOSE INTOLERANCE; CARDIAC ARRHYTHMIAS; and DIARRHEA."^^xsd:string) AnnotationAssertion( "MESH:D055677"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006546"^^xsd:string) AnnotationAssertion(rdfs:label "Refeeding Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Heart Neoplasms) AnnotationAssertion( "Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM."^^xsd:string) AnnotationAssertion( "EFO:1001339"^^xsd:string) AnnotationAssertion( "Cardiac Carcinoma"^^xsd:string) AnnotationAssertion( "Cardiac Carcinomas"^^xsd:string) AnnotationAssertion( "Cardiac Neoplasms"^^xsd:string) AnnotationAssertion( "Cardiac Tumors"^^xsd:string) AnnotationAssertion( "Heart Neoplasm"^^xsd:string) AnnotationAssertion( "Intracavitary Tumors of the Heart"^^xsd:string) AnnotationAssertion( "Myocardial Tumor (Rhabdomyomas and Fibromas)"^^xsd:string) AnnotationAssertion( "Myocardial Tumors (Rhabdomyomas and Fibromas)"^^xsd:string) AnnotationAssertion( "Primary Cardiac Tumors, Childhood"^^xsd:string) AnnotationAssertion( "cardiac neoplasm"^^xsd:string) AnnotationAssertion( "cardiac tumor"^^xsd:string) AnnotationAssertion( "heart tumor"^^xsd:string) AnnotationAssertion( "heart tumors"^^xsd:string) AnnotationAssertion( "tumour of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006547"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Gm2-Gangliosidosis, Variant B1) AnnotationAssertion( "MESH:C567601"^^xsd:string) AnnotationAssertion( "RDO:0015642"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006548"^^xsd:string) AnnotationAssertion(rdfs:label "Gm2-Gangliosidosis, Variant B1"^^xsd:string) SubClassOf( ) # Class: (Enterovirus Infections) AnnotationAssertion(Annotation( "MESH:D004769"^^xsd:string) "Diseases caused by ENTEROVIRUS."^^xsd:string) AnnotationAssertion( "EFO:0007255"^^xsd:string) AnnotationAssertion( "MESH:D004769"^^xsd:string) AnnotationAssertion( "Enterovirus Infection"^^xsd:string) AnnotationAssertion( "Enterovirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006549"^^xsd:string) AnnotationAssertion(rdfs:label "Enterovirus Infections"^^xsd:string) SubClassOf( ) # Class: (hepatosplenic schistosomiasis) AnnotationAssertion(Annotation( "PMID:15626059"^^xsd:string) Annotation( "PMID:3522373"^^xsd:string) "Hepatosplenic schistosomiasis refers to the major complication of chronic infection with Schistosoma mansoni, S japonicum and S mekongi, schistosomal portal hypertension. It is usually associated with enlargement of the liver and spleen, and reversible hepatosplenomegaly may occur in early infections. It is a chronic complication, which develops as a consequence of inflammatory response."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-25T17:10:30Z"^^xsd:string) AnnotationAssertion( "HSS"^^xsd:string) AnnotationAssertion( "hepatic schistosomiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006550"^^xsd:string) AnnotationAssertion(rdfs:label "hepatosplenic schistosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism, Type IIB) AnnotationAssertion( "MIM:614491"^^xsd:string) AnnotationAssertion( "RDO:0013210"^^xsd:string) AnnotationAssertion( "MESH:C564161"^^xsd:string) AnnotationAssertion( "PHA2B"^^xsd:string) AnnotationAssertion( "PSEUDOHYPOALDOSTERONISM TYPE 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006551"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism, Type IIB"^^xsd:string) SubClassOf( ) # Class: (Bacterial Endocarditis) AnnotationAssertion(Annotation( "MESH:D004697"^^xsd:string) "Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use."^^xsd:string) AnnotationAssertion( "RDO:0005484"^^xsd:string) AnnotationAssertion( "EFO:1000830"^^xsd:string) AnnotationAssertion( "MESH:D004697"^^xsd:string) AnnotationAssertion( "Bacterial Endocarditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006552"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Endocarditis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperthermia) AnnotationAssertion( "An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-19T15:42:39Z"^^xsd:string) AnnotationAssertion( "MESH:D000084462"^^xsd:string) AnnotationAssertion( "Hyperpyrexia"^^xsd:string) AnnotationAssertion( "Hyperpyrexias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006553"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperthermia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Cyst) AnnotationAssertion(Annotation( "MESH:D010181"^^xsd:string) "A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)"^^xsd:string) AnnotationAssertion( "MESH:D010181"^^xsd:string) AnnotationAssertion( "Pancreatic Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006554"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency) AnnotationAssertion( "MESH:C538648"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006555"^^xsd:string) AnnotationAssertion(rdfs:label "Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Myeloproliferative Disease, Autosomal Recessive) AnnotationAssertion( "MIM:254700"^^xsd:string) AnnotationAssertion( "MESH:C564977"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006556"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloproliferative Disease, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Nervous System Neoplasms) AnnotationAssertion(Annotation( "MESH:D009423"^^xsd:string) "Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms."^^xsd:string) AnnotationAssertion( "MESH:D009423"^^xsd:string) AnnotationAssertion( "Nervous System Neoplasm"^^xsd:string) AnnotationAssertion( "Nervous System Tumor"^^xsd:string) AnnotationAssertion( "neoplasm of nervous system"^^xsd:string) AnnotationAssertion( "nervous system tumors"^^xsd:string) AnnotationAssertion( "neural neoplasm"^^xsd:string) AnnotationAssertion( "neural tumor"^^xsd:string) AnnotationAssertion( "tumor of the nervous system"^^xsd:string) AnnotationAssertion( "tumors of the nervous system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006557"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Granulomatous Vasculitis) AnnotationAssertion( "Inflammation of any one of the blood vessels or lymphatic vessels in the body, featuring a granulomatous component."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006559"^^xsd:string) AnnotationAssertion(rdfs:label "Granulomatous Vasculitis"^^xsd:string) SubClassOf( ) # Class: (Urofacial Syndrome 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:236730"^^xsd:string) AnnotationAssertion( "HPSE2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UFS1"^^xsd:string) AnnotationAssertion( "UROFACIAL SYNDROME TYPE 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006560"^^xsd:string) AnnotationAssertion(rdfs:label "Urofacial Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Familial Myelofibrosis) AnnotationAssertion( "MESH:C536848"^^xsd:string) AnnotationAssertion( "RDO:0002557"^^xsd:string) AnnotationAssertion( "Myelofibrosis With Myeloid Metaplasia, Somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006561"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Myelofibrosis"^^xsd:string) SubClassOf( ) # Class: (Choroidal Effusions) AnnotationAssertion(Annotation( "MESH:D000080324"^^xsd:string) "Finding of fluid accumulation between the CHOROID and the SCLERA."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T14:46:15Z"^^xsd:string) AnnotationAssertion( "MESH:D000080324"^^xsd:string) AnnotationAssertion( "Choroidal Detachment"^^xsd:string) AnnotationAssertion( "Ciliochoroidal Detachment"^^xsd:string) AnnotationAssertion( "Ciliochoroidal Effusions"^^xsd:string) AnnotationAssertion( "Suprachoroidal Space"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006562"^^xsd:string) AnnotationAssertion(rdfs:label "Choroidal Effusions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Shohat Type) AnnotationAssertion( "MIM:602557"^^xsd:string) AnnotationAssertion( "RDO:0014855"^^xsd:string) AnnotationAssertion( "MESH:C566523"^^xsd:string) AnnotationAssertion( "SEMD, Shohat Type"^^xsd:string) AnnotationAssertion( "SEMDSH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006563"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Shohat Type"^^xsd:string) SubClassOf( ) # Class: (Pyonephrosis) AnnotationAssertion(Annotation( "MESH:D053018"^^xsd:string) "Distention of KIDNEY with the presence of PUS and suppurative destruction of the renal parenchyma. It is often associated with renal obstruction and can lead to total or nearly total loss of renal function."^^xsd:string) AnnotationAssertion( "RDO:0007604"^^xsd:string) AnnotationAssertion( "MESH:D053018"^^xsd:string) AnnotationAssertion( "Infected Hydronephrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006564"^^xsd:string) AnnotationAssertion(rdfs:label "Pyonephrosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Harrod Doman Keele Syndrome) AnnotationAssertion( "MESH:C535635"^^xsd:string) AnnotationAssertion( "Craniofacial digital genital anomalies"^^xsd:string) AnnotationAssertion( "Harrod syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006566"^^xsd:string) AnnotationAssertion(rdfs:label "Harrod Doman Keele Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Methylmalonate Semialdehyde Dehydrogenase Deficiency) AnnotationAssertion( "MIM:614105"^^xsd:string) AnnotationAssertion( "MESH:C566402"^^xsd:string) AnnotationAssertion( "RDO:0014766"^^xsd:string) AnnotationAssertion( "MMSDH Deficiency"^^xsd:string) AnnotationAssertion( "MMSDHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006567"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonate Semialdehyde Dehydrogenase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Osteolysis Hereditary Multicentric) AnnotationAssertion( "MIM:259600"^^xsd:string) AnnotationAssertion( "MESH:C536051"^^xsd:string) AnnotationAssertion( "ORDO:371428"^^xsd:string) AnnotationAssertion( "Al-Aqeel Sewairi syndrome"^^xsd:string) AnnotationAssertion( "MONA"^^xsd:string) AnnotationAssertion( "MULTICENTRIC OSTEOLYSIS-NODULOSIS-ARTHROPATHY (MONA) SPECTRUM DISORDERS"^^xsd:string) AnnotationAssertion( "Multicentric Osteolysis, Nodulosis, and Arthropathy"^^xsd:string) AnnotationAssertion( "NAO SYNDROME"^^xsd:string) AnnotationAssertion( "Nodulosis-Arthropathy-Osteolysis Syndrome"^^xsd:string) AnnotationAssertion( "Torg Syndrome"^^xsd:string) AnnotationAssertion( "Torg osteolysis syndrome"^^xsd:string) AnnotationAssertion( "Torg-Winchester syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006569"^^xsd:string) AnnotationAssertion(rdfs:label "Osteolysis Hereditary Multicentric"^^xsd:string) SubClassOf( ) # Class: (Sacroiliitis) AnnotationAssertion(Annotation( "MESH:D058566"^^xsd:string) "Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy."^^xsd:string) AnnotationAssertion( "MESH:D058566"^^xsd:string) AnnotationAssertion( "Pyogenic Sacroiliitides"^^xsd:string) AnnotationAssertion( "Pyogenic Sacroiliitis"^^xsd:string) AnnotationAssertion( "Sacroiliitides"^^xsd:string) AnnotationAssertion( "Septic Sacroiliitides"^^xsd:string) AnnotationAssertion( "Septic Sacroiliitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006570"^^xsd:string) AnnotationAssertion(rdfs:label "Sacroiliitis"^^xsd:string) SubClassOf( ) # Class: (Epidermodysplasia Verruciformis 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T12:20:36Z"^^xsd:string) AnnotationAssertion( "MIM:618267"^^xsd:string) AnnotationAssertion( "EV3"^^xsd:string) AnnotationAssertion( "epidermodysplasia verruciformis, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006571"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermodysplasia Verruciformis 3"^^xsd:string) SubClassOf( ) # Class: (primary pulmonary hypertension 4) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615344"^^xsd:string) AnnotationAssertion( "PPH4"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006572"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 4"^^xsd:string) SubClassOf( ) # Class: (Familial Recurrent Dislocation of Patella) AnnotationAssertion( "MIM:169000"^^xsd:string) AnnotationAssertion( "MESH:C566816"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006573"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Recurrent Dislocation of Patella"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620270"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-02T08:56:58Z"^^xsd:string) AnnotationAssertion( "MIM:620270"^^xsd:string) AnnotationAssertion( "NEDSM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006574"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vitamin E Deficiency) AnnotationAssertion(Annotation( "MESH:D014811"^^xsd:string) "A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)"^^xsd:string) AnnotationAssertion( "MESH:D014811"^^xsd:string) AnnotationAssertion( "Vitamin E Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006575"^^xsd:string) AnnotationAssertion(rdfs:label "Vitamin E Deficiency"^^xsd:string) SubClassOf( ) # Class: (Generalized Thyroid Hormone Resistance, Autosomal Recessive) AnnotationAssertion( "MIM:274300"^^xsd:string) AnnotationAssertion( "MESH:C567936"^^xsd:string) AnnotationAssertion( "GRTHR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006576"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Thyroid Hormone Resistance, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Johnson Neuroectodermal Syndrome) AnnotationAssertion( "MIM:147770"^^xsd:string) AnnotationAssertion( "MESH:C535882"^^xsd:string) AnnotationAssertion( "AADH syndrome"^^xsd:string) AnnotationAssertion( "Alopecia anosmia deafness hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "Johnson-Mcmillin syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006577"^^xsd:string) AnnotationAssertion(rdfs:label "Johnson Neuroectodermal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thumb Agenesis, Short Stature, and Immunodeficiency) AnnotationAssertion( "MIM:274190"^^xsd:string) AnnotationAssertion( "MESH:C564770"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006578"^^xsd:string) AnnotationAssertion(rdfs:label "Thumb Agenesis, Short Stature, and Immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auriculocondylar Syndrome 4) AnnotationAssertion(Annotation( "MIM:620457"^^xsd:string) "A disease characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Caused by heterozygosity for a tandem duplication within the HDAC9 gene on chromosome 7p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-28T11:47:52Z"^^xsd:string) AnnotationAssertion( "MIM:620457"^^xsd:string) AnnotationAssertion( "ARCND4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006579"^^xsd:string) AnnotationAssertion(rdfs:label "Auriculocondylar Syndrome 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycogen Storage Disease 0, Liver) AnnotationAssertion( "MIM:240600"^^xsd:string) AnnotationAssertion( "MESH:C565485"^^xsd:string) AnnotationAssertion( "GSD 0a"^^xsd:string) AnnotationAssertion( "GSD0A"^^xsd:string) AnnotationAssertion( "Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver"^^xsd:string) AnnotationAssertion( "Liver Glycogen Synthase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006581"^^xsd:string) AnnotationAssertion(rdfs:label "Glycogen Storage Disease 0, Liver"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oculoskeletodental Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T12:40:14Z"^^xsd:string) AnnotationAssertion( "MIM:618440"^^xsd:string) AnnotationAssertion( "CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES"^^xsd:string) AnnotationAssertion( "OCSKD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006582"^^xsd:string) AnnotationAssertion(rdfs:label "Oculoskeletodental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria) AnnotationAssertion( "MESH:C538496"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006584"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neonatal Inflammatory Skin and Bowel Disease 2) AnnotationAssertion( "EGFR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616069"^^xsd:string) AnnotationAssertion( "NISBD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006586"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Inflammatory Skin and Bowel Disease 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gingival Fibromatosis 3) AnnotationAssertion( "MIM:609955"^^xsd:string) AnnotationAssertion( "MESH:C537928"^^xsd:string) AnnotationAssertion( "GGF3"^^xsd:string) AnnotationAssertion( "GINGF3"^^xsd:string) AnnotationAssertion( "HGF3"^^xsd:string) AnnotationAssertion( "gingival fibromatosis, hereditary, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006587"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis 3"^^xsd:string) SubClassOf( ) # Class: (Trismus) AnnotationAssertion(Annotation( "MESH:D014313"^^xsd:string) "Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions."^^xsd:string) AnnotationAssertion( "MESH:D014313"^^xsd:string) AnnotationAssertion( "Lock Jaw"^^xsd:string) AnnotationAssertion( "Lockjaw"^^xsd:string) AnnotationAssertion( "Masseter Muscle Spasm"^^xsd:string) AnnotationAssertion( "Masseter Muscle Spasms"^^xsd:string) AnnotationAssertion( "Masseter Spasm"^^xsd:string) AnnotationAssertion( "Masseter Spasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006588"^^xsd:string) AnnotationAssertion(rdfs:label "Trismus"^^xsd:string) SubClassOf( ) # Class: (Birnaviridae Infections) AnnotationAssertion(Annotation( "MESH:D018175"^^xsd:string) "Virus diseases caused by the BIRNAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:1001764"^^xsd:string) AnnotationAssertion( "MESH:D018175"^^xsd:string) AnnotationAssertion( "Birnaviridae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006589"^^xsd:string) AnnotationAssertion(rdfs:label "Birnaviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Chondrocalcinosis 2) AnnotationAssertion(Annotation( "MIM:118600"^^xsd:string) "This disease is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form."^^xsd:string) AnnotationAssertion( "MIM:118600"^^xsd:string) AnnotationAssertion( "ANKH-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563162"^^xsd:string) AnnotationAssertion( "CCAL2"^^xsd:string) AnnotationAssertion( "CPPDD"^^xsd:string) AnnotationAssertion( "CPPDD2"^^xsd:string) AnnotationAssertion( "Calcium Gout"^^xsd:string) AnnotationAssertion( "Calcium Pyrophosphate Arthropathy"^^xsd:string) AnnotationAssertion( "calcium pyrophosphate dihydrate deposition disease"^^xsd:string) AnnotationAssertion( "calcium pyrophosphate dihydrate deposition disease 2"^^xsd:string) AnnotationAssertion( "familial articular chondrocalcinosis"^^xsd:string) AnnotationAssertion( "CHONDROCALCINOSIS 2, SPORADIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006590"^^xsd:string) AnnotationAssertion(rdfs:label "Chondrocalcinosis 2"^^xsd:string) SubClassOf( ) # Class: (Chromosome 15q, Trisomy) AnnotationAssertion( "MESH:C538040"^^xsd:string) AnnotationAssertion( "Duplication 15q"^^xsd:string) AnnotationAssertion( "Trisomy 15q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006591"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15q, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Sjögren-Mikulicz Syndrome) AnnotationAssertion( "MESH:C536669"^^xsd:string) AnnotationAssertion( "Sjogren-Mikulicz syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006592"^^xsd:string) AnnotationAssertion(rdfs:label "Sjögren-Mikulicz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bernard-Soulier Syndrome, Type B) AnnotationAssertion( "MESH:C565549"^^xsd:string) AnnotationAssertion( "Giant platelet disorder, isolated"^^xsd:string) AnnotationAssertion( "familial macrothrombocytopenia, Bernard-Soulier type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006593"^^xsd:string) AnnotationAssertion(rdfs:label "Bernard-Soulier Syndrome, Type B"^^xsd:string) SubClassOf( ) # Class: (Cysteine Peptiduria) AnnotationAssertion( "MIM:219550"^^xsd:string) AnnotationAssertion( "MESH:C565659"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006594"^^xsd:string) AnnotationAssertion(rdfs:label "Cysteine Peptiduria"^^xsd:string) SubClassOf( ) # Class: (Chromosome 7, Monosomy 7q21) AnnotationAssertion( "MESH:C537816"^^xsd:string) AnnotationAssertion( "Deletion 7q21"^^xsd:string) AnnotationAssertion( "Monosomy 7q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006595"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Monosomy 7q21"^^xsd:string) SubClassOf( ) # Class: (Cayler Cardiofacial Syndrome) AnnotationAssertion( "MIM:125520"^^xsd:string) AnnotationAssertion( "MESH:C535349"^^xsd:string) AnnotationAssertion( "ACF"^^xsd:string) AnnotationAssertion( "Asymmetric crying facies"^^xsd:string) AnnotationAssertion( "Cayler syndrome"^^xsd:string) AnnotationAssertion( "Cayler's syndrome"^^xsd:string) AnnotationAssertion( "Depressor Anguli Oris Muscle, Hypoplasia Of"^^xsd:string) AnnotationAssertion( "Partial unilateral facial paralysis"^^xsd:string) AnnotationAssertion( "Partial unilateral facial paresis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006596"^^xsd:string) AnnotationAssertion(rdfs:label "Cayler Cardiofacial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinal Dysplasia) AnnotationAssertion(Annotation( "MESH:D015792"^^xsd:string) "Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary."^^xsd:string) AnnotationAssertion( "MESH:D015792"^^xsd:string) AnnotationAssertion( "Retinal Dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006597"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Three M Syndrome 2) AnnotationAssertion( "3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:612921"^^xsd:string) AnnotationAssertion( "MESH:C567862"^^xsd:string) AnnotationAssertion( "3M SYNDROME 2"^^xsd:string) AnnotationAssertion( "3M2"^^xsd:string) AnnotationAssertion( "OBSL1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006598"^^xsd:string) AnnotationAssertion(rdfs:label "Three M Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hypertriglyceridemia) AnnotationAssertion(Annotation( "MESH:D015228"^^xsd:string) "A condition of elevated levels of TRIGLYCERIDES in the blood."^^xsd:string) AnnotationAssertion( "EFO:0004211"^^xsd:string) AnnotationAssertion( "MESH:D015228"^^xsd:string) AnnotationAssertion( "Hypertriglyceridemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hypertriglyceridemia, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9006599"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertriglyceridemia"^^xsd:string) SubClassOf( ) # Class: (Calvarial Hyperostosis) AnnotationAssertion( "MIM:302030"^^xsd:string) AnnotationAssertion( "MESH:C537963"^^xsd:string) AnnotationAssertion( "Isolated hyperostosis of the calvarium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006600"^^xsd:string) AnnotationAssertion(rdfs:label "Calvarial Hyperostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Wilms Tumor 4) AnnotationAssertion( "MIM:601363"^^xsd:string) AnnotationAssertion( "MESH:C563336"^^xsd:string) AnnotationAssertion( "FWT1"^^xsd:string) AnnotationAssertion( "Familial Wilms Tumor 1"^^xsd:string) AnnotationAssertion( "WT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006601"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor 4"^^xsd:string) SubClassOf( ) # Class: (Distal Myopathy 5) AnnotationAssertion( "An autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617030"^^xsd:string) AnnotationAssertion( "ADSS1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MPD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006602"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Myopathy 5"^^xsd:string) SubClassOf( ) # Class: (Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:PS615419"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006603"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anhedonia) AnnotationAssertion(Annotation( "MESH:D059445"^^xsd:string) "Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA)."^^xsd:string) AnnotationAssertion( "MESH:D059445"^^xsd:string) AnnotationAssertion( "Anhedonias"^^xsd:string) AnnotationAssertion( "Physical Anhedonia"^^xsd:string) AnnotationAssertion( "Physical Anhedonias"^^xsd:string) AnnotationAssertion( "Social Anhedonia"^^xsd:string) AnnotationAssertion( "Social Anhedonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006604"^^xsd:string) AnnotationAssertion(rdfs:label "Anhedonia"^^xsd:string) SubClassOf( ) # Class: (Familial Erythema Nodosum) AnnotationAssertion( "MIM:132990"^^xsd:string) AnnotationAssertion( "MESH:C535510"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006605"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Erythema Nodosum"^^xsd:string) SubClassOf( ) # Class: (Feline Acquired Immunodeficiency Syndrome) AnnotationAssertion(Annotation( "MESH:D016181"^^xsd:string) "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV)."^^xsd:string) AnnotationAssertion( "MESH:D016181"^^xsd:string) AnnotationAssertion( "FAIDS"^^xsd:string) AnnotationAssertion( "Feline AIDS"^^xsd:string) AnnotationAssertion( "Feline Acquired Immune Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Feline Acquired Immuno Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006606"^^xsd:string) AnnotationAssertion(rdfs:label "Feline Acquired Immunodeficiency Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemifacial Spasm) AnnotationAssertion(Annotation( "MESH:D019569"^^xsd:string) "Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)"^^xsd:string) AnnotationAssertion( "MIM:134300"^^xsd:string) AnnotationAssertion( "MESH:D019569"^^xsd:string) AnnotationAssertion( "Hemifacial Myokymia"^^xsd:string) AnnotationAssertion( "Hemifacial Spasms"^^xsd:string) AnnotationAssertion( "Unilateral Facial Spasm"^^xsd:string) AnnotationAssertion( "Unilateral Facial Spasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006607"^^xsd:string) AnnotationAssertion(rdfs:label "Hemifacial Spasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lung Carcinoid Tumors) AnnotationAssertion( "EFO:1000037"^^xsd:string) AnnotationAssertion( "NCI:C4038"^^xsd:string) AnnotationAssertion( "Lung Carcinoid Neoplasm"^^xsd:string) AnnotationAssertion( "Lung Carcinoid Tumor"^^xsd:string) AnnotationAssertion( "PCT"^^xsd:string) AnnotationAssertion( "carcinoid tumor of lung"^^xsd:string) AnnotationAssertion( "pulmonary carcinoid neoplasm"^^xsd:string) AnnotationAssertion( "pulmonary carcinoid tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006608"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Carcinoid Tumors"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trypsinogen Deficiency) AnnotationAssertion( "MIM:614044"^^xsd:string) AnnotationAssertion( "RDO:9000845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006609"^^xsd:string) AnnotationAssertion(rdfs:label "Trypsinogen Deficiency"^^xsd:string) SubClassOf( ) # Class: (Alpha-B Crystallinopathy with Cataract) AnnotationAssertion( "MESH:C563849"^^xsd:string) AnnotationAssertion( "RDO:0013001"^^xsd:string) AnnotationAssertion( "Desmin-Related Myopathy with Cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006610"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-B Crystallinopathy with Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aquagenic Urticaria) AnnotationAssertion( "GARD:10901"^^xsd:string) AnnotationAssertion( "MIM:191850"^^xsd:string) AnnotationAssertion( "MONDO:0008632"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006611"^^xsd:string) AnnotationAssertion(rdfs:label "Aquagenic Urticaria"^^xsd:string) SubClassOf( ) # Class: (Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism) AnnotationAssertion( "MIM:614501"^^xsd:string) AnnotationAssertion( "NEDHCS"^^xsd:string) AnnotationAssertion( "PMRED"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006612"^^xsd:string) AnnotationAssertion(rdfs:label "Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichophyton Infection) AnnotationAssertion( "MESH:C569516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006613"^^xsd:string) AnnotationAssertion(rdfs:label "Trichophyton Infection"^^xsd:string) SubClassOf( ) # Class: (Lower Extremity Deep Vein Thrombosis) AnnotationAssertion( "The formation or presence of a blood clot (THROMBUS) within a vein of the lower extremity."^^xsd:string) AnnotationAssertion( "RDO:9000094"^^xsd:string) AnnotationAssertion( "deep vein thrombosis of leg"^^xsd:string) AnnotationAssertion( "deep vein thrombosis of lower limb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006614"^^xsd:string) AnnotationAssertion(rdfs:label "Lower Extremity Deep Vein Thrombosis"^^xsd:string) SubClassOf( ) # Class: (HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618314"^^xsd:string) AnnotationAssertion( "HOMGSMR2"^^xsd:string) AnnotationAssertion( "Hypomagnesemia, Seizures, and Mental Retardation 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006615"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies) AnnotationAssertion( "MIM:615219"^^xsd:string) AnnotationAssertion( "HYC2"^^xsd:string) AnnotationAssertion( "HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES"^^xsd:string) AnnotationAssertion( "MPDZ-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Nonsyndromic Hydrocephalus, Autosomal Recessive 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006616"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies"^^xsd:string) SubClassOf( ) # Class: (Fatigue) AnnotationAssertion(Annotation( "MESH:D005221"^^xsd:string) "The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli."^^xsd:string) AnnotationAssertion( "MESH:D005221"^^xsd:string) AnnotationAssertion( "Lassitude"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006617"^^xsd:string) AnnotationAssertion(rdfs:label "Fatigue"^^xsd:string) SubClassOf( ) # Class: (Liver Metastasis) AnnotationAssertion( "Transfer of a neoplasm from its primary site to the liver."^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-07-24T12:29:01Z"^^xsd:string) AnnotationAssertion( "liver metastases"^^xsd:string) AnnotationAssertion( "metastatic liver disease"^^xsd:string) AnnotationAssertion( "secondary liver cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006618"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Metastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa Dystrophica Neurotrophica) AnnotationAssertion( "MIM:226500"^^xsd:string) AnnotationAssertion( "MESH:C562637"^^xsd:string) AnnotationAssertion( "EBR3"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa progressiva, recessive"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa with congenital deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006619"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Dystrophica Neurotrophica"^^xsd:string) SubClassOf( ) # Class: (Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-10T10:46:26Z"^^xsd:string) AnnotationAssertion( "EIF2AK1-related condition"^^xsd:string) AnnotationAssertion( "MIM:618878"^^xsd:string) AnnotationAssertion( "LEMSPAD"^^xsd:string) AnnotationAssertion( "LEMSPAD syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006620"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Noble Bass Sherman Syndrome) AnnotationAssertion( "MESH:C536124"^^xsd:string) AnnotationAssertion( "RDO:0001567"^^xsd:string) AnnotationAssertion( "Ectopia lentis chorioretinal dystrophy myopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006621"^^xsd:string) AnnotationAssertion(rdfs:label "Noble Bass Sherman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Enterotoxemia) AnnotationAssertion(Annotation( "MESH:D004767"^^xsd:string) "Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease."^^xsd:string) AnnotationAssertion( "EFO:1000922"^^xsd:string) AnnotationAssertion( "MESH:D004767"^^xsd:string) AnnotationAssertion( "Enterotoxemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006622"^^xsd:string) AnnotationAssertion(rdfs:label "Enterotoxemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Murine Acquired Immunodeficiency Syndrome) AnnotationAssertion(Annotation( "MESH:D016183"^^xsd:string) "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas."^^xsd:string) AnnotationAssertion( "MESH:D016183"^^xsd:string) AnnotationAssertion( "MAIDS"^^xsd:string) AnnotationAssertion( "Murine AIDS"^^xsd:string) AnnotationAssertion( "Murine Acquired Immune Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Murine Acquired Immuno Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006623"^^xsd:string) AnnotationAssertion(rdfs:label "Murine Acquired Immunodeficiency Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (EVEN-PLUS SYNDROME) AnnotationAssertion( "A syndrome characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616854"^^xsd:string) AnnotationAssertion( "EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS"^^xsd:string) AnnotationAssertion( "EVPLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006624"^^xsd:string) AnnotationAssertion(rdfs:label "EVEN-PLUS SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEMO Mutation with Immunodeficiency) AnnotationAssertion( "MESH:C538399"^^xsd:string) AnnotationAssertion( "RDO:0004376"^^xsd:string) AnnotationAssertion( "NF-kappa B essential modulator (NEMO) mutation with immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006625"^^xsd:string) AnnotationAssertion(rdfs:label "NEMO Mutation with Immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's Disease 5) AnnotationAssertion( "RDO:0014499"^^xsd:string) AnnotationAssertion( "MESH:C566017"^^xsd:string) AnnotationAssertion( "MIM:613643"^^xsd:string) AnnotationAssertion( "PARK5"^^xsd:string) AnnotationAssertion( "Parkinson Disease 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Parkinson disease 5, autosomal dominant, susceptibility to"^^xsd:string) AnnotationAssertion( "Parkinson's disease 5, autosomal dominant, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9006626"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 5"^^xsd:string) SubClassOf( ) # Class: (Cortical Blindness, Retardation, and Postaxial Polydactyly) AnnotationAssertion( "MIM:218010"^^xsd:string) AnnotationAssertion( "MESH:C565674"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006627"^^xsd:string) AnnotationAssertion(rdfs:label "Cortical Blindness, Retardation, and Postaxial Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cleidocranial Dysplasia 2) AnnotationAssertion(Annotation( "MIM:620099"^^xsd:string) "A disease characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Caused by heterozygous mutation in the CBFB gene on chromosome 16q22."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-27T13:23:24Z"^^xsd:string) AnnotationAssertion( "MIM:620099"^^xsd:string) AnnotationAssertion( "CCD2"^^xsd:string) AnnotationAssertion( "CLCD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006628"^^xsd:string) AnnotationAssertion(rdfs:label "Cleidocranial Dysplasia 2"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Granddad Syndrome) AnnotationAssertion( "MIM:138920"^^xsd:string) AnnotationAssertion( "MESH:C564211"^^xsd:string) AnnotationAssertion( "Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006629"^^xsd:string) AnnotationAssertion(rdfs:label "Granddad Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stargardt Disease 1) AnnotationAssertion( "MIM:248200"^^xsd:string) AnnotationAssertion( "Macular dystrophy with flecks type 1"^^xsd:string) AnnotationAssertion( "STGD1"^^xsd:string) AnnotationAssertion( "Stargardt disease, recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FFM"^^xsd:string) AnnotationAssertion( "GENERALIZED CHORIOCAPILLARIS DYSTROPHY"^^xsd:string) AnnotationAssertion( "fundus flavimaculatus"^^xsd:string) AnnotationAssertion( "DOID:9006630"^^xsd:string) AnnotationAssertion(rdfs:label "Stargardt Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain) AnnotationAssertion( "MIM:260970"^^xsd:string) AnnotationAssertion( "MESH:C564894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006631"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Keratoconus Posticus Circumscriptus) AnnotationAssertion( "MIM:244600"^^xsd:string) AnnotationAssertion( "MESH:C536151"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006632"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus Posticus Circumscriptus"^^xsd:string) SubClassOf( ) # Class: (Chromosome 7, Trisomy 7p13 p12 2) AnnotationAssertion( "MESH:C537820"^^xsd:string) AnnotationAssertion( "RDO:0003724"^^xsd:string) AnnotationAssertion( "Duplication 7p13 p12.2"^^xsd:string) AnnotationAssertion( "Trisomy 7p13 p12 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006633"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Trisomy 7p13 p12 2"^^xsd:string) SubClassOf( ) # Class: (Hyponatremia) AnnotationAssertion(Annotation( "MESH:D007010"^^xsd:string) "Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MIM:613508"^^xsd:string) AnnotationAssertion( "EFO:0008349"^^xsd:string) AnnotationAssertion( "EFO:0009894"^^xsd:string) AnnotationAssertion( "EFO:0009895"^^xsd:string) AnnotationAssertion( "MESH:D007010"^^xsd:string) AnnotationAssertion( "RDO:0005862"^^xsd:string) AnnotationAssertion( "Hyponatremias"^^xsd:string) AnnotationAssertion( "carbamazepine-induced hyponatremia"^^xsd:string) AnnotationAssertion( "thiazide-induced hyponatremia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006635"^^xsd:string) AnnotationAssertion(rdfs:label "Hyponatremia"^^xsd:string) SubClassOf( ) # Class: (Heartwater Disease) AnnotationAssertion(Annotation( "MESH:D006357"^^xsd:string) "A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM."^^xsd:string) AnnotationAssertion( "EFO:1000960"^^xsd:string) AnnotationAssertion( "MESH:D006357"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006636"^^xsd:string) AnnotationAssertion(rdfs:label "Heartwater Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schizencephaly) AnnotationAssertion(Annotation( "MESH:D065707"^^xsd:string) "Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes."^^xsd:string) AnnotationAssertion( "MESH:C538514"^^xsd:string) AnnotationAssertion( "MIM:269160"^^xsd:string) AnnotationAssertion( "MESH:D065707"^^xsd:string) AnnotationAssertion( "NCI:C99056"^^xsd:string) AnnotationAssertion( "Schizencephalic Cleft"^^xsd:string) AnnotationAssertion( "Schizencephalic Cyst"^^xsd:string) AnnotationAssertion( "familial schizencephaly"^^xsd:string) AnnotationAssertion( "schizencephalic clefts"^^xsd:string) AnnotationAssertion( "schizencephalic cysts"^^xsd:string) AnnotationAssertion( "schizencephalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006637"^^xsd:string) AnnotationAssertion(rdfs:label "Schizencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sinus Tachycardia) AnnotationAssertion(Annotation( "MESH:D013616"^^xsd:string) "Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities."^^xsd:string) AnnotationAssertion( "MESH:D013616"^^xsd:string) AnnotationAssertion( "Sinus Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006638"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris) AnnotationAssertion( "MESH:C564819"^^xsd:string) AnnotationAssertion( "RDO:0013652"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006639"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Experimental Autoimmune Uveoretinitis) AnnotationAssertion( "An experimental animal model use for the study of retinitis combined with uveitis. It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)."^^xsd:string) AnnotationAssertion( "RDO:9000024"^^xsd:string) AnnotationAssertion( "EAU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006642"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Uveoretinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudofolliculitis Barbae) AnnotationAssertion( "MIM:612318"^^xsd:string) AnnotationAssertion( "MESH:C563016"^^xsd:string) AnnotationAssertion( "RDO:0012478"^^xsd:string) AnnotationAssertion( "Ingrown Hairs"^^xsd:string) AnnotationAssertion( "PFB"^^xsd:string) AnnotationAssertion( "Pili Incarnati"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Pseudofolliculitis Barbae, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9006643"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudofolliculitis Barbae"^^xsd:string) SubClassOf( ) # Class: (Retroviridae Infections) AnnotationAssertion(Annotation( "MESH:D012192"^^xsd:string) "Virus diseases caused by the RETROVIRIDAE."^^xsd:string) AnnotationAssertion( "MESH:D012192"^^xsd:string) AnnotationAssertion( "Retroviridae Infection"^^xsd:string) AnnotationAssertion( "Retrovirus Infection"^^xsd:string) AnnotationAssertion( "Retrovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006644"^^xsd:string) AnnotationAssertion(rdfs:label "Retroviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Parasitic Diseases, Animal) AnnotationAssertion(Annotation( "MESH:D010273"^^xsd:string) "Animal diseases caused by PARASITES."^^xsd:string) AnnotationAssertion( "MESH:D010273"^^xsd:string) AnnotationAssertion( "Animal Parasitic Disease"^^xsd:string) AnnotationAssertion( "Animal Parasitic Infection"^^xsd:string) AnnotationAssertion( "Animal Parasitic Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006645"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Diseases, Animal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metabolic Syndrome) AnnotationAssertion( "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)"^^xsd:string) AnnotationAssertion( "EFO:0000195"^^xsd:string) AnnotationAssertion( "MESH:D024821"^^xsd:string) AnnotationAssertion( "Cardiovascular Syndromes, Metabolic"^^xsd:string) AnnotationAssertion( "Insulin Resistance Syndrome X"^^xsd:string) AnnotationAssertion( "Metabolic Cardiovascular Syndrome"^^xsd:string) AnnotationAssertion( "Metabolic Syndrome X"^^xsd:string) AnnotationAssertion( "Reaven syndrome X"^^xsd:string) AnnotationAssertion( "dysmetabolic syndrome X"^^xsd:string) AnnotationAssertion( "SIM1-ASSOCIATED METABOLIC SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "METABOLIC SYNDROME, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9006646"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Neuritis) AnnotationAssertion(Annotation( "MESH:D009444"^^xsd:string) "An experimental animal model for the demyelinating disease of GUILLAINE-BARRE SYNDROME. In the most frequently used protocol, animals are injected with a peripheral nerve tissue protein homogenate. After approximately 2 weeks the animals develop a neuropathy secondary to a T cell-mediated autoimmune response directed towards the MYELIN P2 PROTEIN in peripheral nerves. Pathologic findings include a perivascular accumulation of macrophages and T lymphocytes in the peripheral nervous system, similar to that seen in the Guillaine-Barre syndrome. (From Adams et al., Principles of Neurology, 6th ed, p1314; J Neuroimmunol 1998 Apr 1;84(1):40-52)"^^xsd:string) AnnotationAssertion( "MESH:D009444"^^xsd:string) AnnotationAssertion( "EAN (Experimental Allergic Neuritis)"^^xsd:string) AnnotationAssertion( "EAN (Experimental Autoimmune Neuritis)"^^xsd:string) AnnotationAssertion( "Experimental Allergic Neuritis"^^xsd:string) AnnotationAssertion( "experimental autoimmune neuropathies"^^xsd:string) AnnotationAssertion( "experimental autoimmune neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006647"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Neuritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hernandez Fragoso Syndrome) AnnotationAssertion( "MIM:601220"^^xsd:string) AnnotationAssertion( "MESH:C536062"^^xsd:string) AnnotationAssertion( "osteoporosis and oculocutaneous hypopigmentation syndrome"^^xsd:string) AnnotationAssertion( "osteoporosis-oculocutaneous hypopigmentation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006648"^^xsd:string) AnnotationAssertion(rdfs:label "Hernandez Fragoso Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prolapse) AnnotationAssertion(Annotation( "MESH:D011391"^^xsd:string) "The protrusion of an organ or part of an organ into a natural or artificial orifice."^^xsd:string) AnnotationAssertion( "MESH:D011391"^^xsd:string) AnnotationAssertion( "Prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006649"^^xsd:string) AnnotationAssertion(rdfs:label "Prolapse"^^xsd:string) SubClassOf( ) # Class: (Anisocoria) AnnotationAssertion(Annotation( "MESH:D015875"^^xsd:string) "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease."^^xsd:string) AnnotationAssertion( "MIM:106240"^^xsd:string) AnnotationAssertion( "MESH:D015875"^^xsd:string) AnnotationAssertion( "Physiologic Anisocoria"^^xsd:string) AnnotationAssertion( "Pupil Diameter Unequal"^^xsd:string) AnnotationAssertion( "Pupillary Size Inequality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006650"^^xsd:string) AnnotationAssertion(rdfs:label "Anisocoria"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-07T11:13:56Z"^^xsd:string) AnnotationAssertion( "MIM:618728"^^xsd:string) AnnotationAssertion( "RPL13-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "SEMDIST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006652"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type"^^xsd:string) SubClassOf( ) # Class: (Gastric Ischemia) AnnotationAssertion( "A hypoperfusion of the blood through the stomach caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-06-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "hypoperfusion of the stomach"^^xsd:string) AnnotationAssertion( "stomach ischemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006653"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 9) AnnotationAssertion( "MIM:616166"^^xsd:string) AnnotationAssertion( "AAT9"^^xsd:string) AnnotationAssertion( "MFAP5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006654"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 9"^^xsd:string) SubClassOf( ) # Class: (GSD IV, Neuromuscular Form, Fatal Perinatal) AnnotationAssertion( "MESH:C565541"^^xsd:string) AnnotationAssertion( "RDO:0014149"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006655"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Neuromuscular Form, Fatal Perinatal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypokalemia) AnnotationAssertion( "MIM:241150"^^xsd:string) AnnotationAssertion( "MESH:C562654"^^xsd:string) AnnotationAssertion( "Gullner Syndrome"^^xsd:string) AnnotationAssertion( "familial hypokalemic alkalosis with specific renal tubulopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006656"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypokalemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Colon Diverticulum) AnnotationAssertion(Annotation( "MESH:D004241"^^xsd:string) "A pouch or sac opening from the COLON."^^xsd:string) AnnotationAssertion( "EFO:1001296"^^xsd:string) AnnotationAssertion( "MESH:D004241"^^xsd:string) AnnotationAssertion( "Colonic Diverticula"^^xsd:string) AnnotationAssertion( "colon diverticula"^^xsd:string) AnnotationAssertion( "colonic diverticulum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006657"^^xsd:string) AnnotationAssertion(rdfs:label "Colon Diverticulum"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nonpenetrating Wounds) AnnotationAssertion(Annotation( "MESH:D014949"^^xsd:string) "Injuries caused by impact with a blunt object where there is no penetration of the skin."^^xsd:string) AnnotationAssertion( "MESH:D014949"^^xsd:string) AnnotationAssertion( "Blunt Injuries"^^xsd:string) AnnotationAssertion( "Blunt Injury"^^xsd:string) AnnotationAssertion( "Nonpenetrating Injuries"^^xsd:string) AnnotationAssertion( "Nonpenetrating Injury"^^xsd:string) AnnotationAssertion( "Nonpenetrating Wound"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006659"^^xsd:string) AnnotationAssertion(rdfs:label "Nonpenetrating Wounds"^^xsd:string) SubClassOf( ) # Class: (Tessadori-van Haaften Neurodevelopmental Syndrome 2) AnnotationAssertion(Annotation( "MIM:619759"^^xsd:string) "This disease is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-03-29T14:15:36Z"^^xsd:string) AnnotationAssertion( "MIM:619759"^^xsd:string) AnnotationAssertion( "TEVANED2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006660"^^xsd:string) AnnotationAssertion(rdfs:label "Tessadori-van Haaften Neurodevelopmental Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phagocytosis, Plasma-Related Defect in) AnnotationAssertion( "MIM:171100"^^xsd:string) AnnotationAssertion( "MESH:C566808"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006661"^^xsd:string) AnnotationAssertion(rdfs:label "Phagocytosis, Plasma-Related Defect in"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1p) AnnotationAssertion( "MESH:C535591"^^xsd:string) AnnotationAssertion( "RDO:0000809"^^xsd:string) AnnotationAssertion( "Deletion 1p"^^xsd:string) AnnotationAssertion( "Monosomy 1p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006662"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1p"^^xsd:string) SubClassOf( ) # Class: (Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism) AnnotationAssertion( "MIM:601450"^^xsd:string) AnnotationAssertion( "RDO:0012608"^^xsd:string) AnnotationAssertion( "MESH:C563315"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006663"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arenavirus hemorrhagic fever) AnnotationAssertion(Annotation( "EFO:0007151"^^xsd:string) "This is a viral infectious disease that involves fever and bleeding disorder caused by Arenavirus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-12T12:25:49Z"^^xsd:string) AnnotationAssertion( "EFO:0007151"^^xsd:string) AnnotationAssertion( "arenaviral hemorrhagic fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006665"^^xsd:string) AnnotationAssertion(rdfs:label "Arenavirus hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Orthostatic Hypotension) AnnotationAssertion( "MESH:C544351"^^xsd:string) AnnotationAssertion( "RDO:0004624"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006666"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Orthostatic Hypotension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dysosteosclerosis) AnnotationAssertion( "MIM:224300"^^xsd:string) AnnotationAssertion( "MESH:C562973"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006667"^^xsd:string) AnnotationAssertion(rdfs:label "Dysosteosclerosis"^^xsd:string) SubClassOf( ) # Class: (Frostbite) AnnotationAssertion(Annotation( "MESH:D005627"^^xsd:string) "Damage to tissues as the result of low environmental temperatures."^^xsd:string) AnnotationAssertion( "EFO:0009527"^^xsd:string) AnnotationAssertion( "MESH:D005627"^^xsd:string) AnnotationAssertion( "Frostbites"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006668"^^xsd:string) AnnotationAssertion(rdfs:label "Frostbite"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thrombocytopenia 9) AnnotationAssertion(Annotation( "MIM:620478"^^xsd:string) "An autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Caused by heterozygous mutation in the THPO gene on chromosome 3q27."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:13:59Z"^^xsd:string) AnnotationAssertion( "MIM:620478"^^xsd:string) AnnotationAssertion( "THC9"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, autosomal dominant 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006669"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 9"^^xsd:string) SubClassOf( ) # Class: (Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers) AnnotationAssertion( "MIM:601170"^^xsd:string) AnnotationAssertion( "MESH:C563378"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006670"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET) AnnotationAssertion(Annotation( "MIM:619352"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-10T18:01:24Z"^^xsd:string) AnnotationAssertion( "MIM:619352"^^xsd:string) AnnotationAssertion( "ATITHS"^^xsd:string) AnnotationAssertion( "childhood-onset ataxia, intention tremor, and hypotonia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006671"^^xsd:string) AnnotationAssertion(rdfs:label "ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hemoglobin SC Disease) AnnotationAssertion(Annotation( "MESH:D006450"^^xsd:string) "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia."^^xsd:string) AnnotationAssertion( "EFO:1001797"^^xsd:string) AnnotationAssertion( "MESH:D006450"^^xsd:string) AnnotationAssertion( "Hb SC disease"^^xsd:string) AnnotationAssertion( "Hb-S/Hb-C disease"^^xsd:string) AnnotationAssertion( "SC disease"^^xsd:string) AnnotationAssertion( "SC diseases"^^xsd:string) AnnotationAssertion( "hemoglobin SC diseases"^^xsd:string) AnnotationAssertion( "sickle cell hemoglobin C disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006672"^^xsd:string) AnnotationAssertion(rdfs:label "Hemoglobin SC Disease"^^xsd:string) SubClassOf( ) # Class: (AURONEURODENTAL SYNDROME) AnnotationAssertion(Annotation( "OMIM:620830"^^xsd:string) "This disease is an autosomal recessive disorder characterized by progressive high-frequency sensorineural hearing loss, mild proximal and axial muscle weakness, and dental anomalies."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-09T11:04:30Z"^^xsd:string) AnnotationAssertion( "OMIM:620830"^^xsd:string) AnnotationAssertion( "ANDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006673"^^xsd:string) AnnotationAssertion(rdfs:label "AURONEURODENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MHC CLASS II DEFICIENCY 4) AnnotationAssertion(Annotation( "MIM:620817"^^xsd:string) "This disease is an autosomal recessive immunodeficiency characterized by the onset of recurrent, persistent infections from birth, resulting in failure to thrive. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and DP) on the surface of antigen-presenting cells."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-14T10:38:24Z"^^xsd:string) AnnotationAssertion( "MIM:620817"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D"^^xsd:string) AnnotationAssertion( "MHC2D4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006674"^^xsd:string) AnnotationAssertion(rdfs:label "MHC CLASS II DEFICIENCY 4"^^xsd:string) SubClassOf( ) # Class: (Hyperparathyroidism 1) AnnotationAssertion( "MIM:145000"^^xsd:string) AnnotationAssertion( "MESH:C564166"^^xsd:string) AnnotationAssertion( "HRPT1"^^xsd:string) AnnotationAssertion( "familial isolated hyperparathyroidism"^^xsd:string) AnnotationAssertion( "familial parathyroid adenoma"^^xsd:string) AnnotationAssertion( "FIHP PARATHYROID ADENOMA, FAMILIAL"^^xsd:string) AnnotationAssertion( "HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006675"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperparathyroidism 1"^^xsd:string) SubClassOf( ) # Class: (Micronuclei, Chromosome-Defective) AnnotationAssertion(Annotation( "MESH:D048629"^^xsd:string) "Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes."^^xsd:string) AnnotationAssertion( "EFO:1001778"^^xsd:string) AnnotationAssertion( "MESH:D048629"^^xsd:string) AnnotationAssertion( "RDO:0007551"^^xsd:string) AnnotationAssertion( "Chromosome-Defective Micronucleus"^^xsd:string) AnnotationAssertion( "Genotoxicant Induced Micronuclei"^^xsd:string) AnnotationAssertion( "Genotoxicant-Induced Micronucleus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006676"^^xsd:string) AnnotationAssertion(rdfs:label "Micronuclei, Chromosome-Defective"^^xsd:string) SubClassOf( ) # Class: (Salcedo Syndrome) AnnotationAssertion( "MIM:256020"^^xsd:string) AnnotationAssertion( "LMX1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537228"^^xsd:string) AnnotationAssertion( "FSGS10"^^xsd:string) AnnotationAssertion( "focal segmental glomerulosclerosis 10"^^xsd:string) AnnotationAssertion( "glomerular basement membrane disease, nail-patella syndrome type"^^xsd:string) AnnotationAssertion( "nail patella like renal disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006677"^^xsd:string) AnnotationAssertion(rdfs:label "Salcedo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Somatic Colonic Adenocarcinoma) AnnotationAssertion( "An adenocarcinoma arising from the colon, caused by a somatic mutation. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma."^^xsd:string) AnnotationAssertion( "RDO:9000696"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006678"^^xsd:string) AnnotationAssertion(rdfs:label "Somatic Colonic Adenocarcinoma"^^xsd:string) SubClassOf( ) # Class: (Peripheral Cone Dystrophy) AnnotationAssertion( "MIM:609021"^^xsd:string) AnnotationAssertion( "MESH:C563813"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006679"^^xsd:string) AnnotationAssertion(rdfs:label "Peripheral Cone Dystrophy"^^xsd:string) SubClassOf( ) # Class: (Hyperventilation) AnnotationAssertion(Annotation( "MESH:D006985"^^xsd:string) "A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide."^^xsd:string) AnnotationAssertion( "MESH:D006985"^^xsd:string) AnnotationAssertion( "hyperventilations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006680"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperventilation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SPERMATOGENIC FAILURE, X-LINKED, 8) AnnotationAssertion(Annotation( "MIM:301119"^^xsd:string) "This disease is characterized by male infertility associated with markedly reduced progressive sperm motility. Patient sperm show head and midpiece defects, with deformed and detached acrosomes ."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-17T13:07:29Z"^^xsd:string) AnnotationAssertion( "MIM:301119"^^xsd:string) AnnotationAssertion( "SPGFX8"^^xsd:string) AnnotationAssertion( "X-linked spermatogenic failure-8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006682"^^xsd:string) AnnotationAssertion(rdfs:label "SPERMATOGENIC FAILURE, X-LINKED, 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Adrenal Hyperplasia, Type 5) AnnotationAssertion( "MIM:202110"^^xsd:string) AnnotationAssertion( "MESH:C538237"^^xsd:string) AnnotationAssertion( "17-alpha-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "Adrenal Hyperplasia V"^^xsd:string) AnnotationAssertion( "Adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED"^^xsd:string) AnnotationAssertion( "DOID:9006683"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Adrenal Hyperplasia, Type 5"^^xsd:string) SubClassOf( ) # Class: (Inflammatory Breast Neoplasms) AnnotationAssertion( "Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells."^^xsd:string) AnnotationAssertion( "MESH:D058922"^^xsd:string) AnnotationAssertion( "Inflammatory Breast Cancer (IBC)"^^xsd:string) AnnotationAssertion( "Inflammatory Breast Cancers"^^xsd:string) AnnotationAssertion( "inflammatory breast cancer"^^xsd:string) AnnotationAssertion( "inflammatory breast neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006684"^^xsd:string) AnnotationAssertion(rdfs:label "Inflammatory Breast Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Short Stature, and Impaired Glucose Metabolism 1) AnnotationAssertion( "MIM:616033"^^xsd:string) AnnotationAssertion( "MSSGM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006685"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Short Stature, and Impaired Glucose Metabolism 1"^^xsd:string) SubClassOf( ) # Class: (Rajab Interstitial Lung Disease with Brain Calcifications 1) AnnotationAssertion( "MIM:613658"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS"^^xsd:string) AnnotationAssertion( "FARSB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDBLLA"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES"^^xsd:string) AnnotationAssertion( "RILDBC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006686"^^xsd:string) AnnotationAssertion(rdfs:label "Rajab Interstitial Lung Disease with Brain Calcifications 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Annular Erythema) AnnotationAssertion( "MIM:106500"^^xsd:string) AnnotationAssertion( "MESH:C562461"^^xsd:string) AnnotationAssertion( "MONDO:0007128"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006687"^^xsd:string) AnnotationAssertion(rdfs:label "Annular Erythema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neural Tube Defects X-Linked) AnnotationAssertion( "MIM:301410"^^xsd:string) AnnotationAssertion( "RDO:0001992"^^xsd:string) AnnotationAssertion( "MESH:C536410"^^xsd:string) AnnotationAssertion( "Anencephaly-Spina Bifida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006689"^^xsd:string) AnnotationAssertion(rdfs:label "Neural Tube Defects X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vitelliform Macular Dystrophy 5) AnnotationAssertion( "A disease characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG). (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616152"^^xsd:string) AnnotationAssertion( "MACULAR DYSTROPHY, RETINAL, 5"^^xsd:string) AnnotationAssertion( "MACULOPATHY, IMPG2-RELATED"^^xsd:string) AnnotationAssertion( "VMD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006690"^^xsd:string) AnnotationAssertion(rdfs:label "Vitelliform Macular Dystrophy 5"^^xsd:string) SubClassOf( ) # Class: (Erysipelothrix Infections) AnnotationAssertion(Annotation( "MESH:D004889"^^xsd:string) "Infections with bacteria of the genus ERYSIPELOTHRIX."^^xsd:string) AnnotationAssertion( "EFO:1000927"^^xsd:string) AnnotationAssertion( "MESH:D004889"^^xsd:string) AnnotationAssertion( "MONDO:0006751"^^xsd:string) AnnotationAssertion( "Erysipelothrix Infection"^^xsd:string) AnnotationAssertion( "Erysipelothrix infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006691"^^xsd:string) AnnotationAssertion(rdfs:label "Erysipelothrix Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hutterite Cerebroosteonephrodysplasia Syndrome) AnnotationAssertion( "MESH:C536074"^^xsd:string) AnnotationAssertion( "MIM:236450"^^xsd:string) AnnotationAssertion( "MONDO:0009358"^^xsd:string) AnnotationAssertion( "Cerebroosteonephrosis syndrome"^^xsd:string) AnnotationAssertion( "Congenital shortness with mild spondylorhizomelic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006692"^^xsd:string) AnnotationAssertion(rdfs:label "Hutterite Cerebroosteonephrodysplasia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ALAD-Deficiency Porphyria) AnnotationAssertion( "MIM:612740"^^xsd:string) AnnotationAssertion( "MESH:C562618"^^xsd:string) AnnotationAssertion( "NCI:C133887"^^xsd:string) AnnotationAssertion( "ADP"^^xsd:string) AnnotationAssertion( "ALA-dehydratase deficient porphyria"^^xsd:string) AnnotationAssertion( "ALAD Deficiency"^^xsd:string) AnnotationAssertion( "ALAD porphyria"^^xsd:string) AnnotationAssertion( "Delta-Aminolevulinate Dehydratase Deficiency"^^xsd:string) AnnotationAssertion( "Doss Porphyria"^^xsd:string) AnnotationAssertion( "PORPHYRIA, ACUTE HEPATIC"^^xsd:string) AnnotationAssertion( "Porphobilinogen Synthase Deficiency"^^xsd:string) AnnotationAssertion( "acute hepatic porphyria"^^xsd:string) AnnotationAssertion( "PORPHYRIA, ACUTE HEPATIC, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LEAD POISONING, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9006693"^^xsd:string) AnnotationAssertion(rdfs:label "ALAD-Deficiency Porphyria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sacrococcygeal Dysgenesis Association) AnnotationAssertion( "MESH:C537225"^^xsd:string) AnnotationAssertion( "RDO:0003015"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006694"^^xsd:string) AnnotationAssertion(rdfs:label "Sacrococcygeal Dysgenesis Association"^^xsd:string) SubClassOf( ) # Class: (Orbital Margin, Hypoplasia of) AnnotationAssertion( "MIM:165600"^^xsd:string) AnnotationAssertion( "MESH:C563490"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006695"^^xsd:string) AnnotationAssertion(rdfs:label "Orbital Margin, Hypoplasia of"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia with Myoclonic Epilepsy) AnnotationAssertion( "MIM:270805"^^xsd:string) AnnotationAssertion( "MESH:C564810"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006696"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia with Myoclonic Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Hepatic Fibrosis) AnnotationAssertion( "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. (NCI)"^^xsd:string) AnnotationAssertion( "MESH:C562378"^^xsd:string) AnnotationAssertion( "NCI:C97071"^^xsd:string) AnnotationAssertion( "Congenital Fibrose Liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006697"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hepatic Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vaginal Neoplasms) AnnotationAssertion(Annotation( "MESH:D014625"^^xsd:string) "Tumors or cancer of the VAGINA."^^xsd:string) AnnotationAssertion( "EFO:1001447"^^xsd:string) AnnotationAssertion( "MESH:D014625"^^xsd:string) AnnotationAssertion( "Vagina Neoplasm"^^xsd:string) AnnotationAssertion( "Vaginal Neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of vagina"^^xsd:string) AnnotationAssertion( "vagina neoplasms"^^xsd:string) AnnotationAssertion( "vaginal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006698"^^xsd:string) AnnotationAssertion(rdfs:label "Vaginal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abnormal Fusion of Dental Cementum with Alveolar Bone) AnnotationAssertion( "MESH:C536375"^^xsd:string) AnnotationAssertion( "Molar I reinclusion"^^xsd:string) AnnotationAssertion( "Secondary retention of permanent molars"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006699"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Fusion of Dental Cementum with Alveolar Bone"^^xsd:string) SubClassOf( ) # Class: (APOLIPOPROTEIN A-II DEFICIENCY) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-01-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:107670"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006700"^^xsd:string) AnnotationAssertion(rdfs:label "APOLIPOPROTEIN A-II DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Reproductive Tract Infections) AnnotationAssertion(Annotation( "MESH:D060737"^^xsd:string) "Infections of the genital tract in females or males. They can be caused by endogenous, iatrogenic, or sexually transmitted organisms."^^xsd:string) AnnotationAssertion( "RDO:0010047"^^xsd:string) AnnotationAssertion( "MESH:D060737"^^xsd:string) AnnotationAssertion( "Genital Tract Infection"^^xsd:string) AnnotationAssertion( "Genital Tract Infections"^^xsd:string) AnnotationAssertion( "Reproductive Tract Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006701"^^xsd:string) AnnotationAssertion(rdfs:label "Reproductive Tract Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly Microcornea Syndrome Seemanova Type) AnnotationAssertion( "RDO:0003398"^^xsd:string) AnnotationAssertion( "MESH:C537539"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006703"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Microcornea Syndrome Seemanova Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Schlegelberger Grote Syndrome) AnnotationAssertion( "MESH:C536635"^^xsd:string) AnnotationAssertion( "RDO:0002272"^^xsd:string) AnnotationAssertion( "Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear"^^xsd:string) AnnotationAssertion( "Triphalangeal thumbs thrombocytopathy deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006704"^^xsd:string) AnnotationAssertion(rdfs:label "Schlegelberger Grote Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 95) AnnotationAssertion(Annotation( "MIM:619773"^^xsd:string) "An autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Caused by homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-08T11:26:50Z"^^xsd:string) AnnotationAssertion( "HEREDITARY PREDISPOSITION TO INFECTIONS"^^xsd:string) AnnotationAssertion( "MIM:619773"^^xsd:string) AnnotationAssertion( "IMD95"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006705"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 95"^^xsd:string) SubClassOf( ) # Class: (Rasmussen Johnsen Thomsen Syndrome) AnnotationAssertion( "MIM:133705"^^xsd:string) AnnotationAssertion( "MESH:C535290"^^xsd:string) AnnotationAssertion( "EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS"^^xsd:string) AnnotationAssertion( "Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006706"^^xsd:string) AnnotationAssertion(rdfs:label "Rasmussen Johnsen Thomsen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypomandibular Faciocranial Dysostosis) AnnotationAssertion( "MIM:241310"^^xsd:string) AnnotationAssertion( "MESH:C537154"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006707"^^xsd:string) AnnotationAssertion(rdfs:label "Hypomandibular Faciocranial Dysostosis"^^xsd:string) SubClassOf( ) # Class: (PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE) AnnotationAssertion(Annotation( "MIM:620126"^^xsd:string) "This disease is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis. Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-03-02T12:22:04Z"^^xsd:string) AnnotationAssertion( "MIM:620126"^^xsd:string) AnnotationAssertion( "PHA1B3"^^xsd:string) AnnotationAssertion( "autosomal recessive pseudohypoaldosteronism type IB3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006708"^^xsd:string) AnnotationAssertion(rdfs:label "PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE"^^xsd:string) SubClassOf( ) # Class: (Primary Graft Dysfunction) AnnotationAssertion(Annotation( "MESH:D055031"^^xsd:string) "A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION."^^xsd:string) AnnotationAssertion( "MESH:D055031"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006709"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Graft Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Epidermolysis Bullosa Pruriginosa) AnnotationAssertion( "MIM:604129"^^xsd:string) AnnotationAssertion( "MESH:C563192"^^xsd:string) AnnotationAssertion( "DEB, PRURIGINOSA"^^xsd:string) AnnotationAssertion( "Dystrophic Epidermolysis Bullosa Pruriginosa"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa pruriginosa, autosomal dominant"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa pruriginosa, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006711"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Pruriginosa"^^xsd:string) SubClassOf( ) # Class: (ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES) AnnotationAssertion(Annotation( "MIM:618527"^^xsd:string) "A disease characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-12T15:38:31Z"^^xsd:string) AnnotationAssertion( "MIM:618527"^^xsd:string) AnnotationAssertion( "IKSHD"^^xsd:string) AnnotationAssertion( "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006712"^^xsd:string) AnnotationAssertion(rdfs:label "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spinocerebellar Ataxia 27B) AnnotationAssertion(Annotation( "MIM:620174"^^xsd:string) "An autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). Caused by a heterozygous trinucleotide repeat expansion (GAAn) in the FGF14 gene on chromosome 13q33."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-04T13:32:32Z"^^xsd:string) AnnotationAssertion( "MIM:620174"^^xsd:string) AnnotationAssertion( "SCA27B"^^xsd:string) AnnotationAssertion( "Spinocerebellar ataxia 27B, late-onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006713"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 27B"^^xsd:string) SubClassOf( ) # Class: (Crumpled Helices and Small Mouth) AnnotationAssertion( "MIM:605945"^^xsd:string) AnnotationAssertion( "MESH:C536217"^^xsd:string) AnnotationAssertion( "Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006714"^^xsd:string) AnnotationAssertion(rdfs:label "Crumpled Helices and Small Mouth"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Filoviridae Infections) AnnotationAssertion(Annotation( "MESH:D018702"^^xsd:string) "Infections with viruses of the family FILOVIRIDAE. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown."^^xsd:string) AnnotationAssertion( "EFO:0007273"^^xsd:string) AnnotationAssertion( "MESH:D018702"^^xsd:string) AnnotationAssertion( "Filoviridae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006715"^^xsd:string) AnnotationAssertion(rdfs:label "Filoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity) AnnotationAssertion(Annotation( "MIM:618730"^^xsd:string) "An autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-14T13:19:24Z"^^xsd:string) AnnotationAssertion( "MIM:618730"^^xsd:string) AnnotationAssertion( "NEDMCMS"^^xsd:string) AnnotationAssertion( "VANDERVORE-SCHOT SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006716"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity) AnnotationAssertion( "MESH:C531732"^^xsd:string) AnnotationAssertion( "RDO:0000152"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006717"^^xsd:string) AnnotationAssertion(rdfs:label "Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity"^^xsd:string) SubClassOf( ) # Class: (Banki Syndrome) AnnotationAssertion( "MIM:109300"^^xsd:string) AnnotationAssertion( "MESH:C566228"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006718"^^xsd:string) AnnotationAssertion(rdfs:label "Banki Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bethlem Myopathy 1B) AnnotationAssertion(Annotation( "MIM:620725"^^xsd:string) "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A2 gene on chromosome 21q22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T10:49:40Z"^^xsd:string) AnnotationAssertion( "MIM:620725"^^xsd:string) AnnotationAssertion( "MONDO:0958233"^^xsd:string) AnnotationAssertion( "BTHLM1B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006719"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem Myopathy 1B"^^xsd:string) SubClassOf( ) # Class: (CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY) AnnotationAssertion(Annotation( "MIM:620470"^^xsd:string) "This disease is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-09-12T13:01:16Z"^^xsd:string) AnnotationAssertion( "MIM:620470"^^xsd:string) AnnotationAssertion( "CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC"^^xsd:string) AnnotationAssertion( "CSMH"^^xsd:string) AnnotationAssertion( "CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006720"^^xsd:string) AnnotationAssertion(rdfs:label "CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY"^^xsd:string) SubClassOf( ) # Class: (GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME) AnnotationAssertion(Annotation( "MIM:618820"^^xsd:string) "A disease characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-13T10:39:08Z"^^xsd:string) AnnotationAssertion( "MIM:618820"^^xsd:string) AnnotationAssertion( "GUBS"^^xsd:string) AnnotationAssertion( "PPP1R12A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006721"^^xsd:string) AnnotationAssertion(rdfs:label "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malocclusion, Angle Class II) AnnotationAssertion(Annotation( "MESH:D008312"^^xsd:string) "Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion)."^^xsd:string) AnnotationAssertion( "MESH:D008312"^^xsd:string) AnnotationAssertion( "Angle Class II"^^xsd:string) AnnotationAssertion( "Angle Class II, Division 1"^^xsd:string) AnnotationAssertion( "Angle Class II, Division 2"^^xsd:string) AnnotationAssertion( "Class II Malocclusion, Division 1"^^xsd:string) AnnotationAssertion( "Class II Malocclusion, Division 2"^^xsd:string) AnnotationAssertion( "Malocclusion, Angle Class II, Division 1"^^xsd:string) AnnotationAssertion( "Malocclusion, Angle Class II, Division 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006722"^^xsd:string) AnnotationAssertion(rdfs:label "Malocclusion, Angle Class II"^^xsd:string) SubClassOf( ) # Class: (Osteopenic Nonfracture Syndrome) AnnotationAssertion( "MESH:C567172"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006723"^^xsd:string) AnnotationAssertion(rdfs:label "Osteopenic Nonfracture Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phlebectasia of Lips) AnnotationAssertion( "MIM:171450"^^xsd:string) AnnotationAssertion( "MESH:C566806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006724"^^xsd:string) AnnotationAssertion(rdfs:label "Phlebectasia of Lips"^^xsd:string) SubClassOf( ) # Class: (Glucocorticoid Deficiency 2) AnnotationAssertion( "MIM:607398"^^xsd:string) AnnotationAssertion( "MESH:C564577"^^xsd:string) AnnotationAssertion( "FGD2"^^xsd:string) AnnotationAssertion( "Familial Glucocorticoid Deficiency 2"^^xsd:string) AnnotationAssertion( "GCCD2"^^xsd:string) AnnotationAssertion( "MRAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006725"^^xsd:string) AnnotationAssertion(rdfs:label "Glucocorticoid Deficiency 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bent Bone Dysplasia Syndrome 2) AnnotationAssertion(Annotation( "MIM:620076"^^xsd:string) "A disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Caused by compound heterozygous mutation in the LAMA5 gene on chromosome 20q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-17T08:07:32Z"^^xsd:string) AnnotationAssertion( "LAMA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620076"^^xsd:string) AnnotationAssertion( "MONDO:0859573"^^xsd:string) AnnotationAssertion( "BBDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006726"^^xsd:string) AnnotationAssertion(rdfs:label "Bent Bone Dysplasia Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Polydipsia) AnnotationAssertion(Annotation( "MESH:D059606"^^xsd:string) "Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin."^^xsd:string) AnnotationAssertion( "MESH:D059606"^^xsd:string) AnnotationAssertion( "Polydipsias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006727"^^xsd:string) AnnotationAssertion(rdfs:label "Polydipsia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Triple Negative Breast Neoplasms) AnnotationAssertion(Annotation( "MESH:D064726"^^xsd:string) "Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN."^^xsd:string) AnnotationAssertion( "MESH:D064726"^^xsd:string) AnnotationAssertion( "ER Negative PR Negative HER2 Negative Breast Cancer"^^xsd:string) AnnotationAssertion( "ER negative PR negative HER2 negative breast neoplasms"^^xsd:string) AnnotationAssertion( "Triple Negative Breast Cancer"^^xsd:string) AnnotationAssertion( "Triple-Negative Breast Cancers"^^xsd:string) AnnotationAssertion( "triple negative breast neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006728"^^xsd:string) AnnotationAssertion(rdfs:label "Triple Negative Breast Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIbb) AnnotationAssertion(Annotation( "MIM:620546"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings. Caused by homozygous mutation in the COG3 gene on chromosome 13q14."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-24T13:33:16Z"^^xsd:string) AnnotationAssertion( "MIM:620546"^^xsd:string) AnnotationAssertion( "CDG IIbb"^^xsd:string) AnnotationAssertion( "CDG2BB"^^xsd:string) AnnotationAssertion( "CDGIIBB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006729"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIbb"^^xsd:string) SubClassOf( ) # Class: (Paraneoplastic Endocrine Syndromes) AnnotationAssertion(Annotation( "MESH:D009384"^^xsd:string) "Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion."^^xsd:string) AnnotationAssertion( "RDO:0004722"^^xsd:string) AnnotationAssertion( "MESH:D009384"^^xsd:string) AnnotationAssertion( "Ectopic Hormone Syndrome"^^xsd:string) AnnotationAssertion( "Ectopic Hormone Syndromes"^^xsd:string) AnnotationAssertion( "Paraneoplastic Endocrine Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006730"^^xsd:string) AnnotationAssertion(rdfs:label "Paraneoplastic Endocrine Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlactatemia) AnnotationAssertion(Annotation( "MESH:D065906"^^xsd:string) "Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS."^^xsd:string) AnnotationAssertion( "MESH:D065906"^^xsd:string) AnnotationAssertion( "Hyperlactatemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006731"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlactatemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Clostridium Infections) AnnotationAssertion(Annotation( "MESH:D003015"^^xsd:string) "Infections with bacteria of the genus CLOSTRIDIUM."^^xsd:string) AnnotationAssertion( "EFO:1000874"^^xsd:string) AnnotationAssertion( "MESH:D003015"^^xsd:string) AnnotationAssertion( "Clostridium Infection"^^xsd:string) AnnotationAssertion( "Clostridium infectious disease"^^xsd:string) AnnotationAssertion( "commensal Clostridium infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006732"^^xsd:string) AnnotationAssertion(rdfs:label "Clostridium Infections"^^xsd:string) SubClassOf( ) # Class: (Stomatognathic System Abnormalities) AnnotationAssertion(Annotation( "MESH:D018640"^^xsd:string) "Congenital structural abnormalities of the mouth and jaws, including the dentition."^^xsd:string) AnnotationAssertion( "MESH:D018640"^^xsd:string) AnnotationAssertion( "stomatognathic system abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006733"^^xsd:string) AnnotationAssertion(rdfs:label "Stomatognathic System Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dowling-Degos Disease 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-03T12:21:29Z"^^xsd:string) AnnotationAssertion( "MIM:179850"^^xsd:string) AnnotationAssertion( "DDD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006734"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos Disease 1"^^xsd:string) SubClassOf( ) # Class: (Overriding Aorta) AnnotationAssertion( "dextraposition of aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006735"^^xsd:string) AnnotationAssertion(rdfs:label "Overriding Aorta"^^xsd:string) SubClassOf( ) # Class: (Gingival Fibromatosis with Hypertrichosis and Mental Retardation) AnnotationAssertion( "MIM:605400"^^xsd:string) AnnotationAssertion( "MESH:C565331"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006736"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Fibromatosis with Hypertrichosis and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Monoclonal B-Cell Lymphocytosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0006889"^^xsd:string) AnnotationAssertion( "RDO:9000381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006737"^^xsd:string) AnnotationAssertion(rdfs:label "Monoclonal B-Cell Lymphocytosis"^^xsd:string) SubClassOf( ) # Class: (Hypertension Resistant to Conventional Therapy) AnnotationAssertion( "EFO:1002006"^^xsd:string) AnnotationAssertion( "MESH:C563514"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006738"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertension Resistant to Conventional Therapy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Nathalie Syndrome) AnnotationAssertion( "MIM:255990"^^xsd:string) AnnotationAssertion( "MESH:C538342"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006740"^^xsd:string) AnnotationAssertion(rdfs:label "Nathalie Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acute Hepatitis) AnnotationAssertion( "Inflammation of the liver with abrupt onset and lasting for less than 6 months."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006741"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Hepatitis"^^xsd:string) SubClassOf( ) # Class: (GSD IV, Nonprogressive Hepatic) AnnotationAssertion( "MESH:C565540"^^xsd:string) AnnotationAssertion( "RDO:0014148"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006742"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, Nonprogressive Hepatic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spasm) AnnotationAssertion(Annotation( "MESH:D013035"^^xsd:string) "An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE."^^xsd:string) AnnotationAssertion( "MESH:D013035"^^xsd:string) AnnotationAssertion( "Ciliary Body Spasm"^^xsd:string) AnnotationAssertion( "Ciliary Body Spasms"^^xsd:string) AnnotationAssertion( "Generalized Spasm"^^xsd:string) AnnotationAssertion( "Generalized Spasms"^^xsd:string) AnnotationAssertion( "Muscle Spasm"^^xsd:string) AnnotationAssertion( "Muscle Spasms"^^xsd:string) AnnotationAssertion( "Muscular Spasm"^^xsd:string) AnnotationAssertion( "Muscular Spasms"^^xsd:string) AnnotationAssertion( "Spasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006743"^^xsd:string) AnnotationAssertion(rdfs:label "Spasm"^^xsd:string) SubClassOf( ) # Class: (Familial Lichen Planus) AnnotationAssertion( "MIM:151620"^^xsd:string) AnnotationAssertion( "MESH:C563624"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006744"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Lichen Planus"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Cryptotia) AnnotationAssertion( "MIM:123557"^^xsd:string) AnnotationAssertion( "MESH:C565140"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006746"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cryptotia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Renal Cell Carcinoma, Xp11-Associated) AnnotationAssertion( "MIM:300854"^^xsd:string) AnnotationAssertion( "RDO:9000493"^^xsd:string) AnnotationAssertion( "RCCX1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006749"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Cell Carcinoma, Xp11-Associated"^^xsd:string) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 7) AnnotationAssertion( "MIM:613780"^^xsd:string) AnnotationAssertion( "AAT7"^^xsd:string) AnnotationAssertion( "AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006750"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 7"^^xsd:string) SubClassOf( ) # Class: (Bellini Chiumello Rimoldi Syndrome) AnnotationAssertion( "MESH:C535652"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006751"^^xsd:string) AnnotationAssertion(rdfs:label "Bellini Chiumello Rimoldi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3) AnnotationAssertion( "MESH:C538200"^^xsd:string) AnnotationAssertion( "RDO:0004143"^^xsd:string) AnnotationAssertion( "Neurosensory nonsyndromic dominant deafness 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006753"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3"^^xsd:string) SubClassOf( ) # Class: (Marfanoid Mental Retardation Syndrome, Autosomal) AnnotationAssertion( "MIM:248770"^^xsd:string) AnnotationAssertion( "MESH:C565410"^^xsd:string) AnnotationAssertion( "marfanoid habitus and intellectual disability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006754"^^xsd:string) AnnotationAssertion(rdfs:label "Marfanoid Mental Retardation Syndrome, Autosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME) AnnotationAssertion( "MIM:308940"^^xsd:string) AnnotationAssertion( "MESH:C537113"^^xsd:string) AnnotationAssertion( "ATS-DL"^^xsd:string) AnnotationAssertion( "Alport Syndrome And Diffuse Leiomyomatosis"^^xsd:string) AnnotationAssertion( "Alport syndrome with diffuse leiomyomatosis"^^xsd:string) AnnotationAssertion( "CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME"^^xsd:string) AnnotationAssertion( "Diffuse leiomyomatosis in Alport syndrome"^^xsd:string) AnnotationAssertion( "Leiomyomatosis, Esophageal and Vulval, with Nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006755"^^xsd:string) AnnotationAssertion(rdfs:label "LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pachydermodactyly, Familial) AnnotationAssertion( "MIM:600356"^^xsd:string) AnnotationAssertion( "MESH:C563947"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006757"^^xsd:string) AnnotationAssertion(rdfs:label "Pachydermodactyly, Familial"^^xsd:string) SubClassOf( ) # Class: (Osteomas of Mandible) AnnotationAssertion( "MIM:166400"^^xsd:string) AnnotationAssertion( "MESH:C563485"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006758"^^xsd:string) AnnotationAssertion(rdfs:label "Osteomas of Mandible"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Non Opposable Triphalangeal Thumb) AnnotationAssertion( "MIM:190600"^^xsd:string) AnnotationAssertion( "MESH:C536562"^^xsd:string) AnnotationAssertion( "nonopposable triphalangeal thumb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006759"^^xsd:string) AnnotationAssertion(rdfs:label "Non Opposable Triphalangeal Thumb"^^xsd:string) SubClassOf( ) # Class: (Testicular Anomalies with or without Congenital Heart Disease) AnnotationAssertion( "MIM:615542"^^xsd:string) AnnotationAssertion( "RDO:9000988"^^xsd:string) AnnotationAssertion( "TACHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006760"^^xsd:string) AnnotationAssertion(rdfs:label "Testicular Anomalies with or without Congenital Heart Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 5) AnnotationAssertion( "MIM:609299"^^xsd:string) AnnotationAssertion( "MESH:C563744"^^xsd:string) AnnotationAssertion( "HPC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006761"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 5"^^xsd:string) SubClassOf( ) # Class: (Down Syndrome Critical Region) AnnotationAssertion( "MESH:C566023"^^xsd:string) AnnotationAssertion( "RDO:0014504"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006762"^^xsd:string) AnnotationAssertion(rdfs:label "Down Syndrome Critical Region"^^xsd:string) SubClassOf( ) # Class: (Stickler Syndrome, Type I, Nonsyndromic Ocular) AnnotationAssertion( "MIM:609508"^^xsd:string) AnnotationAssertion( "RDO:0012898"^^xsd:string) AnnotationAssertion( "MESH:C563709"^^xsd:string) AnnotationAssertion( "Stickler Syndrome type I, predominantly ocular"^^xsd:string) AnnotationAssertion( "atypical Stickler Syndrome"^^xsd:string) AnnotationAssertion( "DRRD"^^xsd:string) AnnotationAssertion( "rhegmatogenous retinal detachment, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006763"^^xsd:string) AnnotationAssertion(rdfs:label "Stickler Syndrome, Type I, Nonsyndromic Ocular"^^xsd:string) SubClassOf( ) # Class: (Accelerated Idioventricular Rhythm) AnnotationAssertion(Annotation( "MESH:D016170"^^xsd:string) "A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary."^^xsd:string) AnnotationAssertion( "MESH:D016170"^^xsd:string) AnnotationAssertion( "RDO:0006942"^^xsd:string) AnnotationAssertion( "AIVR"^^xsd:string) AnnotationAssertion( "Accelerated Idioventricular Rhythms"^^xsd:string) AnnotationAssertion( "Slow Ventricular Tachycardia"^^xsd:string) AnnotationAssertion( "Slow Ventricular Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006764"^^xsd:string) AnnotationAssertion(rdfs:label "Accelerated Idioventricular Rhythm"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Palant Cleft Palate Syndrome) AnnotationAssertion( "MIM:260150"^^xsd:string) AnnotationAssertion( "MESH:C538102"^^xsd:string) AnnotationAssertion( "Unusual facies, cleft palate, mental retardation, and limb abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006766"^^xsd:string) AnnotationAssertion(rdfs:label "Palant Cleft Palate Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Complete Agenesis of Diaphragm) AnnotationAssertion( "MESH:C564189"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006767"^^xsd:string) AnnotationAssertion(rdfs:label "Complete Agenesis of Diaphragm"^^xsd:string) SubClassOf( ) # Class: (Beaulieu-Boycott-Innes Syndrome) AnnotationAssertion( "MIM:613680"^^xsd:string) AnnotationAssertion( "BBIS"^^xsd:string) AnnotationAssertion( "THOC6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006768"^^xsd:string) AnnotationAssertion(rdfs:label "Beaulieu-Boycott-Innes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Presentey Anomaly) AnnotationAssertion( "MIM:261500"^^xsd:string) AnnotationAssertion( "MESH:C564893"^^xsd:string) AnnotationAssertion( "EPXD"^^xsd:string) AnnotationAssertion( "Peroxidase and Phospholipid Deficiency in Eosinophils"^^xsd:string) AnnotationAssertion( "eosinophil peroxidase deficiency"^^xsd:string) AnnotationAssertion( "partial eosinophil peroxidase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006769"^^xsd:string) AnnotationAssertion(rdfs:label "Presentey Anomaly"^^xsd:string) SubClassOf( ) # Class: (Atrial Tachyarrhythmia with Short PR Interval) AnnotationAssertion( "MESH:C566237"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006770"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Tachyarrhythmia with Short PR Interval"^^xsd:string) SubClassOf( ) # Class: (Chronic Rhinosinusitis) AnnotationAssertion( "Chronic inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a slow progressive course of indefinite duration."^^xsd:string) AnnotationAssertion( "EFO:1000024"^^xsd:string) AnnotationAssertion( "EFO:1002030"^^xsd:string) AnnotationAssertion( "chronic rhinosinusitis without nasal polyps"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006771"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Rhinosinusitis"^^xsd:string) SubClassOf( ) # Class: (Ciliophora Infections) AnnotationAssertion(Annotation( "MESH:D016770"^^xsd:string) "Infections with protozoa of the phylum CILIOPHORA."^^xsd:string) AnnotationAssertion( "MESH:D016770"^^xsd:string) AnnotationAssertion( "RDO:0004973"^^xsd:string) AnnotationAssertion( "Ciliophora Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006772"^^xsd:string) AnnotationAssertion(rdfs:label "Ciliophora Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Polymicrogyria with Optic Nerve Hypoplasia) AnnotationAssertion( "MESH:C567715"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CDCBM8"^^xsd:string) AnnotationAssertion( "complex cortical dysplasia with other brain malformations 8"^^xsd:string) AnnotationAssertion( "DOID:9006775"^^xsd:string) AnnotationAssertion(rdfs:label "Polymicrogyria with Optic Nerve Hypoplasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neonatal Intractable Myoclonus) AnnotationAssertion( "A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617235"^^xsd:string) AnnotationAssertion( "KIF5A-RELATED INTRACTABLE NEONATAL MYOCLONUS"^^xsd:string) AnnotationAssertion( "NEIMY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006777"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Intractable Myoclonus"^^xsd:string) SubClassOf( ) # Class: (Carotid Atherosclerosis) AnnotationAssertion( "A thickening and loss of elasticity of the walls of carotid arteries that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA."^^xsd:string) AnnotationAssertion( "EFO:0009783"^^xsd:string) AnnotationAssertion( "RDO:9000061"^^xsd:string) AnnotationAssertion( "Atherosclerotic Disease of the Carotid Artery"^^xsd:string) AnnotationAssertion( "carotid atheroscleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006778"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Atherosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Discoid Lupus Erythematosus) AnnotationAssertion(Annotation( "MESH:D008179"^^xsd:string) "A chronic form of CUTANEOUS LUPUS ERYTHEMATOSUS in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur."^^xsd:string) AnnotationAssertion( "MESH:D008179"^^xsd:string) AnnotationAssertion( "Lupus Erythematosus, Chronic Cutaneous"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006779"^^xsd:string) AnnotationAssertion(rdfs:label "Discoid Lupus Erythematosus"^^xsd:string) SubClassOf( ) # Class: (Genito Palato Cardiac Syndrome) AnnotationAssertion( "MIM:231060"^^xsd:string) AnnotationAssertion( "MESH:C537683"^^xsd:string) AnnotationAssertion( "Gardner-Silengo-Wachtel syndrome"^^xsd:string) AnnotationAssertion( "Genitopalatocardiac syndrome"^^xsd:string) AnnotationAssertion( "Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006780"^^xsd:string) AnnotationAssertion(rdfs:label "Genito Palato Cardiac Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cutaneous Fistula) AnnotationAssertion(Annotation( "MESH:D017577"^^xsd:string) "An abnormal passage or communication leading from an internal organ to the surface of the body."^^xsd:string) AnnotationAssertion( "MESH:D017577"^^xsd:string) AnnotationAssertion( "RDO:0007059"^^xsd:string) AnnotationAssertion( "Cutaneous Fistulas"^^xsd:string) AnnotationAssertion( "External Fistula"^^xsd:string) AnnotationAssertion( "External Fistulas"^^xsd:string) AnnotationAssertion( "Skin Fistula"^^xsd:string) AnnotationAssertion( "Skin Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006781"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-11T14:52:42Z"^^xsd:string) AnnotationAssertion( "MIM:619115"^^xsd:string) AnnotationAssertion( "OIEDS syndrome 1"^^xsd:string) AnnotationAssertion( "OIEDS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006782"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Young Syndrome) AnnotationAssertion( "MIM:279000"^^xsd:string) AnnotationAssertion( "MESH:C536718"^^xsd:string) AnnotationAssertion( "Azoospermia sinopulmonary infections"^^xsd:string) AnnotationAssertion( "Azoospermia, obstructive, and chronic sinopulmonary infections"^^xsd:string) AnnotationAssertion( "Barry-Perkins-Young syndrome"^^xsd:string) AnnotationAssertion( "Sinusitis-infertility syndrome"^^xsd:string) AnnotationAssertion( "MALE INFERTILITY DUE TO OBSTRUCTIVE AZOOSPERMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006783"^^xsd:string) AnnotationAssertion(rdfs:label "Young Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy) AnnotationAssertion( "MESH:C566379"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006784"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ankle Fractures) AnnotationAssertion(Annotation( "MESH:D064386"^^xsd:string) "Fractures of any of the bones of the ANKLE."^^xsd:string) AnnotationAssertion( "EFO:0009615"^^xsd:string) AnnotationAssertion( "MESH:D064386"^^xsd:string) AnnotationAssertion( "Ankle Fracture"^^xsd:string) AnnotationAssertion( "Bimalleolar Ankle Fracture"^^xsd:string) AnnotationAssertion( "Bimalleolar Ankle Fractures"^^xsd:string) AnnotationAssertion( "Bimalleolar Equivalent Ankle Fractures"^^xsd:string) AnnotationAssertion( "Bimalleolar Equivalent Fracture"^^xsd:string) AnnotationAssertion( "Bimalleolar Equivalent Fractures"^^xsd:string) AnnotationAssertion( "Bimalleolar Fracture"^^xsd:string) AnnotationAssertion( "Bimalleolar Fractures"^^xsd:string) AnnotationAssertion( "Lateral Malleolus Fracture"^^xsd:string) AnnotationAssertion( "Lateral Malleolus Fractures"^^xsd:string) AnnotationAssertion( "Medial Malleolus Fracture"^^xsd:string) AnnotationAssertion( "Medial Malleolus Fractures"^^xsd:string) AnnotationAssertion( "Posterior Malleolus Fracture"^^xsd:string) AnnotationAssertion( "Posterior Malleolus Fractures"^^xsd:string) AnnotationAssertion( "Trimalleolar Ankle Fracture"^^xsd:string) AnnotationAssertion( "Trimalleolar Ankle Fractures"^^xsd:string) AnnotationAssertion( "Trimalleolar Fracture"^^xsd:string) AnnotationAssertion( "Trimalleolar Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006786"^^xsd:string) AnnotationAssertion(rdfs:label "Ankle Fractures"^^xsd:string) SubClassOf( ) # Class: (Professional Burnout) AnnotationAssertion(Annotation( "MESH:D002055"^^xsd:string) "An excessive stress reaction to one's occupational or professional environment. It is manifested by feelings of emotional and physical exhaustion coupled with a sense of frustration and failure."^^xsd:string) AnnotationAssertion( "MESH:D002055"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006787"^^xsd:string) AnnotationAssertion(rdfs:label "Professional Burnout"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis) AnnotationAssertion( "MIM:612862"^^xsd:string) AnnotationAssertion( "CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility To"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006788"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation) AnnotationAssertion( "MESH:C566509"^^xsd:string) AnnotationAssertion( "RDO:0014843"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006789"^^xsd:string) AnnotationAssertion(rdfs:label "External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Subglottic Tracheal Stenosis) AnnotationAssertion( "MESH:C536283"^^xsd:string) AnnotationAssertion( "RDO:0001801"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006790"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Subglottic Tracheal Stenosis"^^xsd:string) SubClassOf( ) # Class: (Hypogonadotropic Hypogonadism 27 without Anosmia) AnnotationAssertion(Annotation( "MIM:619755"^^xsd:string) "A hypogonadotropic hypogonadism characterized by lack of pubertal development associated with onset of obesity in early adolescence. Caused by homozygous mutation in the NHLH2 gene on chromosome 1p31."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-02-21T13:13:55Z"^^xsd:string) AnnotationAssertion( "MIM:619755"^^xsd:string) AnnotationAssertion( "HH27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006791"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadotropic Hypogonadism 27 without Anosmia"^^xsd:string) SubClassOf( ) # Class: (Hypertensive Intracranial Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020299"^^xsd:string) "Bleeding within the SKULL that is caused by systemic HYPERTENSION, usually in association with INTRACRANIAL ARTERIOSCLEROSIS. Hypertensive hemorrhages are most frequent in the BASAL GANGLIA; CEREBELLUM; PONS; and THALAMUS; but may also involve the CEREBRAL CORTEX, subcortical white matter, and other brain structures."^^xsd:string) AnnotationAssertion( "MESH:D020299"^^xsd:string) AnnotationAssertion( "Cerebral Hypertensive Hemorrhage"^^xsd:string) AnnotationAssertion( "Cerebral Hypertensive Hemorrhages"^^xsd:string) AnnotationAssertion( "Hypertensive Intracerebral Hemorrhage"^^xsd:string) AnnotationAssertion( "Hypertensive Intracerebral Hemorrhages"^^xsd:string) AnnotationAssertion( "Hypertensive Intracranial Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006792"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertensive Intracranial Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME) AnnotationAssertion(Annotation( "MIM:618891"^^xsd:string) "A multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-03T14:24:54Z"^^xsd:string) AnnotationAssertion( "MIM:618891"^^xsd:string) AnnotationAssertion( "MDBH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006793"^^xsd:string) AnnotationAssertion(rdfs:label "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 15) AnnotationAssertion( "MIM:611959"^^xsd:string) AnnotationAssertion( "MESH:C567447"^^xsd:string) AnnotationAssertion( "HPC15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006794"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 15"^^xsd:string) SubClassOf( ) # Class: (Acid-Base Imbalance) AnnotationAssertion(Annotation( "MESH:D000137"^^xsd:string) "Disturbances in the ACID-BASE EQUILIBRIUM of the body."^^xsd:string) AnnotationAssertion( "MESH:D000137"^^xsd:string) AnnotationAssertion( "Acid-Base Imbalances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006795"^^xsd:string) AnnotationAssertion(rdfs:label "Acid-Base Imbalance"^^xsd:string) SubClassOf( ) # Class: (Gastrointestinal Neoplasms) AnnotationAssertion(Annotation( "MESH:D005770"^^xsd:string) "Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL."^^xsd:string) AnnotationAssertion( "MESH:D005770"^^xsd:string) AnnotationAssertion( "Gastrointestinal Cancer"^^xsd:string) AnnotationAssertion( "Gastrointestinal Cancers"^^xsd:string) AnnotationAssertion( "Gastrointestinal Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006796"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrointestinal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pechet Factor Deficiency) AnnotationAssertion( "MIM:169200"^^xsd:string) AnnotationAssertion( "MESH:C566814"^^xsd:string) AnnotationAssertion( "Dynia Factor Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006798"^^xsd:string) AnnotationAssertion(rdfs:label "Pechet Factor Deficiency"^^xsd:string) SubClassOf( ) # Class: (CHOPS Syndrome) AnnotationAssertion(Annotation( "EFO:0009031"^^xsd:string) "This is a multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux."^^xsd:string) AnnotationAssertion( "EFO:0009031"^^xsd:string) AnnotationAssertion( "MIM:616368"^^xsd:string) AnnotationAssertion( "AFF4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CHOPS"^^xsd:string) AnnotationAssertion( "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"^^xsd:string) AnnotationAssertion( "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006799"^^xsd:string) AnnotationAssertion(rdfs:label "CHOPS Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peritoneal Panniculitis) AnnotationAssertion(Annotation( "MESH:D015436"^^xsd:string) "INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS."^^xsd:string) AnnotationAssertion( "EFO:1001384"^^xsd:string) AnnotationAssertion( "MESH:D015436"^^xsd:string) AnnotationAssertion( "Liposclerotic Mesenteritis"^^xsd:string) AnnotationAssertion( "Mesenteric Lipodystrophy"^^xsd:string) AnnotationAssertion( "Mesenteric Panniculitis"^^xsd:string) AnnotationAssertion( "Mesenteric Weber Christian Disease"^^xsd:string) AnnotationAssertion( "Omental Panniculitis"^^xsd:string) AnnotationAssertion( "Retractile Mesenteritis"^^xsd:string) AnnotationAssertion( "Sclerosing Mesenteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006800"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Panniculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Elejalde Disease) AnnotationAssertion( "MIM:256710"^^xsd:string) AnnotationAssertion( "MESH:C536203"^^xsd:string) AnnotationAssertion( "Elejalde neuroectodermal melanolysosomal syndrome"^^xsd:string) AnnotationAssertion( "Elejalde syndrome"^^xsd:string) AnnotationAssertion( "Melanolysosomal neurocutaneous syndrome"^^xsd:string) AnnotationAssertion( "Neuro-ectodermal melanolysosomal syndrome"^^xsd:string) AnnotationAssertion( "Neuroectodermal melanolysosomal disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006801"^^xsd:string) AnnotationAssertion(rdfs:label "Elejalde Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Attenuated Familial Adenomatous Polyposis) AnnotationAssertion( "RDO:0004223"^^xsd:string) AnnotationAssertion( "MESH:C538265"^^xsd:string) AnnotationAssertion( "AFAP"^^xsd:string) AnnotationAssertion( "FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006802"^^xsd:string) AnnotationAssertion(rdfs:label "Attenuated Familial Adenomatous Polyposis"^^xsd:string) SubClassOf( ) # Class: (DYSKERATOSIS CONGENITA, DIGENIC) AnnotationAssertion(Annotation( "MIM:620040"^^xsd:string) "This disease is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Telomeres are shortened in patient cells."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-06T12:20:32Z"^^xsd:string) AnnotationAssertion( "MIM:620040"^^xsd:string) AnnotationAssertion( "DKCD"^^xsd:string) AnnotationAssertion( "digenic dyskeratosis congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006803"^^xsd:string) AnnotationAssertion(rdfs:label "DYSKERATOSIS CONGENITA, DIGENIC"^^xsd:string) SubClassOf( ) # Class: (CD8 Deficiency, Familial) AnnotationAssertion( "MIM:608957"^^xsd:string) AnnotationAssertion( "MESH:C563824"^^xsd:string) AnnotationAssertion( "RDO:0012985"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006804"^^xsd:string) AnnotationAssertion(rdfs:label "CD8 Deficiency, Familial"^^xsd:string) SubClassOf( ) # Class: (Iris Neoplasms) AnnotationAssertion( "Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi."^^xsd:string) AnnotationAssertion( "DOID:6994"^^xsd:string) AnnotationAssertion( "MESH:D015811"^^xsd:string) AnnotationAssertion( "Iris Neoplasm"^^xsd:string) AnnotationAssertion( "Iris Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006805"^^xsd:string) AnnotationAssertion(rdfs:label "Iris Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudo-TORCH Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-27T10:51:19Z"^^xsd:string) AnnotationAssertion( "MIM:618886"^^xsd:string) AnnotationAssertion( "PTORCH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006806"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudo-TORCH Syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Pulmonary Alveolar Proteinosis) AnnotationAssertion( "MESH:C535832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006807"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Pulmonary Alveolar Proteinosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Specific Granule Deficiency 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T08:31:01Z"^^xsd:string) AnnotationAssertion( "MIM:617475"^^xsd:string) AnnotationAssertion( "SGD2"^^xsd:string) AnnotationAssertion( "SMARCD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006809"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Granule Deficiency 2"^^xsd:string) SubClassOf( ) # Class: (Drug-Related Side Effects and Adverse Reactions) AnnotationAssertion(Annotation( "MESH:D064420"^^xsd:string) "Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals."^^xsd:string) AnnotationAssertion( "EFO:0006321"^^xsd:string) AnnotationAssertion( "EFO:0020003"^^xsd:string) AnnotationAssertion( "MESH:D064420"^^xsd:string) AnnotationAssertion( "Adverse Drug Reaction"^^xsd:string) AnnotationAssertion( "Adverse Drug Reactions"^^xsd:string) AnnotationAssertion( "Drug Side Effect"^^xsd:string) AnnotationAssertion( "Drug Side Effects"^^xsd:string) AnnotationAssertion( "Drug Toxicities"^^xsd:string) AnnotationAssertion( "adverse drug event"^^xsd:string) AnnotationAssertion( "adverse drug events"^^xsd:string) AnnotationAssertion( "drug toxicity"^^xsd:string) AnnotationAssertion( "side effects of drugs"^^xsd:string) AnnotationAssertion( "antidepressant-induced dizziness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Brain pseudoatrophy, reversible, valproate-induced, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9006810"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Related Side Effects and Adverse Reactions"^^xsd:string) SubClassOf( ) # Class: (Congenital Alacrima) AnnotationAssertion( "MIM:103420"^^xsd:string) AnnotationAssertion( "MIM:601549"^^xsd:string) AnnotationAssertion( "MESH:C566307"^^xsd:string) AnnotationAssertion( "Alacrimia Congenita"^^xsd:string) AnnotationAssertion( "alacrimia congenita, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital alacrima, autosomal dominant"^^xsd:string) AnnotationAssertion( "congenital alacrima, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006811"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Alacrima"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Transient Neonatal Cyanosis) AnnotationAssertion( "RDO:9000262"^^xsd:string) AnnotationAssertion( "MIM:613977"^^xsd:string) AnnotationAssertion( "TNCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006812"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Cyanosis"^^xsd:string) SubClassOf( ) # Class: (Hunt's Syndrome) AnnotationAssertion( "MESH:C535287"^^xsd:string) AnnotationAssertion( "Myoclonus and Ataxia"^^xsd:string) AnnotationAssertion( "Ramsay Hunt Syndrome type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006813"^^xsd:string) AnnotationAssertion(rdfs:label "Hunt's Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gingival Neoplasms) AnnotationAssertion( "New abnormal growth of tissue in the GINGIVA."^^xsd:string) AnnotationAssertion( "MESH:D005887"^^xsd:string) AnnotationAssertion( "Gingival Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006814"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Otorhinolaryngologic Neoplasms) AnnotationAssertion(Annotation( "MESH:D010039"^^xsd:string) "A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading."^^xsd:string) AnnotationAssertion( "MESH:D010039"^^xsd:string) AnnotationAssertion( "RDO:0005424"^^xsd:string) AnnotationAssertion( "Ootorhinolaryngeal Neoplasm"^^xsd:string) AnnotationAssertion( "Ootorhinolaryngeal Neoplasms"^^xsd:string) AnnotationAssertion( "Otorhinolaryngeal Cancer"^^xsd:string) AnnotationAssertion( "Otorhinolaryngeal Cancers"^^xsd:string) AnnotationAssertion( "Otorhinolaryngologic Neoplasm"^^xsd:string) AnnotationAssertion( "Otorhinolaryngological Neoplasm"^^xsd:string) AnnotationAssertion( "Otorhinolaryngological Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006815"^^xsd:string) AnnotationAssertion(rdfs:label "Otorhinolaryngologic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Functional Hearing Loss) AnnotationAssertion(Annotation( "MESH:D006315"^^xsd:string) "Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders."^^xsd:string) AnnotationAssertion( "RDO:0005720"^^xsd:string) AnnotationAssertion( "MESH:D006315"^^xsd:string) AnnotationAssertion( "Nonorganic Hearing Loss"^^xsd:string) AnnotationAssertion( "Psychogenic Hearing Loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006816"^^xsd:string) AnnotationAssertion(rdfs:label "Functional Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (Hamamy Syndrome) AnnotationAssertion( "MIM:611174"^^xsd:string) AnnotationAssertion( "MESH:C566988"^^xsd:string) AnnotationAssertion( "MONDO:0012634"^^xsd:string) AnnotationAssertion( "ORDO:314555"^^xsd:string) AnnotationAssertion( "HMMS"^^xsd:string) AnnotationAssertion( "severe hypertelorism with midface prominence, myopia, intellectual disability, and bone fragility"^^xsd:string) AnnotationAssertion( "severe hypertelorism with midface prominence, myopia, mental retardation, and bone fragility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006817"^^xsd:string) AnnotationAssertion(rdfs:label "Hamamy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 15) AnnotationAssertion( "MIM:616814"^^xsd:string) AnnotationAssertion( "OZEMA15"^^xsd:string) AnnotationAssertion( "PREMBL1"^^xsd:string) AnnotationAssertion( "Preimplantation Embryonic Lethality 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006818"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 15"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anonychia with Flexural Pigmentation) AnnotationAssertion( "MIM:106750"^^xsd:string) AnnotationAssertion( "MESH:C566278"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006819"^^xsd:string) AnnotationAssertion(rdfs:label "Anonychia with Flexural Pigmentation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's Disease, X-Linked Dominant) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000400"^^xsd:string) AnnotationAssertion( "Parkinson Disease, X-Linked Dominant"^^xsd:string) AnnotationAssertion( "X-linked dominant Parkinson disease"^^xsd:string) AnnotationAssertion( "X-linked dominant Parkinson's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006820"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease, X-Linked Dominant"^^xsd:string) SubClassOf( ) # Class: (Skraban-Deardorff Syndrome) AnnotationAssertion( "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617616"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES"^^xsd:string) AnnotationAssertion( "SKDEAS"^^xsd:string) AnnotationAssertion( "WDR26-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006821"^^xsd:string) AnnotationAssertion(rdfs:label "Skraban-Deardorff Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Blue Nevi, Familial Multiple) AnnotationAssertion( "MIM:603670"^^xsd:string) AnnotationAssertion( "MESH:C566346"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006822"^^xsd:string) AnnotationAssertion(rdfs:label "Blue Nevi, Familial Multiple"^^xsd:string) SubClassOf( ) # Class: (Echovirus Infections) AnnotationAssertion(Annotation( "MESH:D004457"^^xsd:string) "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses."^^xsd:string) AnnotationAssertion( "RDO:0005435"^^xsd:string) AnnotationAssertion( "EFO:0007247"^^xsd:string) AnnotationAssertion( "MESH:D004457"^^xsd:string) AnnotationAssertion( "Echo Virus Infection"^^xsd:string) AnnotationAssertion( "Echo Virus Infections"^^xsd:string) AnnotationAssertion( "Echovirus Infection"^^xsd:string) AnnotationAssertion( "echovirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006823"^^xsd:string) AnnotationAssertion(rdfs:label "Echovirus Infections"^^xsd:string) SubClassOf( ) # Class: (46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy) AnnotationAssertion( "MIM:607080"^^xsd:string) AnnotationAssertion( "MESH:C567773"^^xsd:string) AnnotationAssertion( "GDMN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006824"^^xsd:string) AnnotationAssertion(rdfs:label "46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Imerslund-Grasbeck Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-28T11:40:36Z"^^xsd:string) AnnotationAssertion( "MIM:PS261100"^^xsd:string) AnnotationAssertion( "IGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006825"^^xsd:string) AnnotationAssertion(rdfs:label "Imerslund-Grasbeck Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pascual Castroviejo Syndrome) AnnotationAssertion( "MESH:C536302"^^xsd:string) AnnotationAssertion( "RDO:0001829"^^xsd:string) AnnotationAssertion( "Hemangiomas, and cutaneous and intracranial vascular deformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006826"^^xsd:string) AnnotationAssertion(rdfs:label "Pascual Castroviejo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lung Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the lung, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "Lung Ischemia-Reperfusion Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006827"^^xsd:string) AnnotationAssertion(rdfs:label "Lung Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Hyperinsulinism) AnnotationAssertion(Annotation( "MESH:D044903"^^xsd:string) "A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8)."^^xsd:string) AnnotationAssertion( "MESH:D044903"^^xsd:string) AnnotationAssertion( "NCI:C131425"^^xsd:string) AnnotationAssertion( "Familial Hyperinsulinism"^^xsd:string) AnnotationAssertion( "Neonatal Hyperinsulinism"^^xsd:string) AnnotationAssertion( "Neonatal Hyperinsulinisms"^^xsd:string) AnnotationAssertion( "familial hyperinsulinisms"^^xsd:string) AnnotationAssertion( "KCNT2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006828"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hyperinsulinism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Fibroadenomas of the Breast) AnnotationAssertion( "RDO:9000997"^^xsd:string) AnnotationAssertion( "MIM:615554"^^xsd:string) AnnotationAssertion( "MFAB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006829"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Fibroadenomas of the Breast"^^xsd:string) SubClassOf( ) # Class: (Chromosome 14q, Terminal Deletion) AnnotationAssertion( "MESH:C538033"^^xsd:string) AnnotationAssertion( "RDO:0003967"^^xsd:string) AnnotationAssertion( "Deletion 14qter"^^xsd:string) AnnotationAssertion( "Monosomy 14qter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006830"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14q, Terminal Deletion"^^xsd:string) SubClassOf( ) # Class: (Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria) AnnotationAssertion( "MESH:C566880"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006831"^^xsd:string) AnnotationAssertion(rdfs:label "Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Puromycin Aminonucleoside Nephrosis) AnnotationAssertion( "An experimental model of human minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) generated by the dosing of rats with puromycin aminonucleoside. The resulting disease features proteinuria and podocyte ultrastructural changes."^^xsd:string) AnnotationAssertion( "PAN"^^xsd:string) AnnotationAssertion( "PAN nephrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006832"^^xsd:string) AnnotationAssertion(rdfs:label "Puromycin Aminonucleoside Nephrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis) AnnotationAssertion( "MIM:204730"^^xsd:string) AnnotationAssertion( "RDO:0014460"^^xsd:string) AnnotationAssertion( "MESH:C565960"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006833"^^xsd:string) AnnotationAssertion(rdfs:label "Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glycosylphosphatidylinositol Deficiency) AnnotationAssertion( "MESH:C537277"^^xsd:string) AnnotationAssertion( "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT"^^xsd:string) AnnotationAssertion( "GPID"^^xsd:string) AnnotationAssertion( "PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006834"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cystic Mesothelioma) AnnotationAssertion(Annotation( "MESH:D018261"^^xsd:string) "A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345)"^^xsd:string) AnnotationAssertion( "MESH:D018261"^^xsd:string) AnnotationAssertion( "Cystic Mesotheliomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006835"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Mesothelioma"^^xsd:string) SubClassOf( ) # Class: (Contracture) AnnotationAssertion(Annotation( "MESH:D003286"^^xsd:string) "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint."^^xsd:string) AnnotationAssertion( "EFO:0003899"^^xsd:string) AnnotationAssertion( "MESH:D003286"^^xsd:string) AnnotationAssertion( "Contractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006836"^^xsd:string) AnnotationAssertion(rdfs:label "Contracture"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myeloid Tumor Suppressor) AnnotationAssertion( "MIM:601308"^^xsd:string) AnnotationAssertion( "MLRL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MYELOID LEUKEMIA-LOCUS"^^xsd:string) AnnotationAssertion( "DOID:9006837"^^xsd:string) AnnotationAssertion(rdfs:label "Myeloid Tumor Suppressor"^^xsd:string) SubClassOf( ) # Class: (Congenital Facial Diplegia) AnnotationAssertion( "RDO:0000164"^^xsd:string) AnnotationAssertion( "MESH:C531747"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006838"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Facial Diplegia"^^xsd:string) SubClassOf( ) # Class: (Anastomotic Leak) AnnotationAssertion(Annotation( "MESH:D057868"^^xsd:string) "Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a SURGICAL ANASTOMOSIS of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis."^^xsd:string) AnnotationAssertion( "MESH:D057868"^^xsd:string) AnnotationAssertion( "Anastomotic Leakage"^^xsd:string) AnnotationAssertion( "Anastomotic Leakages"^^xsd:string) AnnotationAssertion( "Anastomotic Leaks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006839"^^xsd:string) AnnotationAssertion(rdfs:label "Anastomotic Leak"^^xsd:string) SubClassOf( ) # Class: (Hypergastrinemia) AnnotationAssertion( "The presence of an excess of gastrin in the blood, commonly the result of gastrin-secreting tumors (gastrinomas)."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006840"^^xsd:string) AnnotationAssertion(rdfs:label "Hypergastrinemia"^^xsd:string) SubClassOf( ) # Class: (Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia) AnnotationAssertion( "MIM:604690"^^xsd:string) AnnotationAssertion( "MESH:C565755"^^xsd:string) AnnotationAssertion( "RDO:0014309"^^xsd:string) AnnotationAssertion( "ROCA Syndrome"^^xsd:string) AnnotationAssertion( "ROCA-Weidemann Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006841"^^xsd:string) AnnotationAssertion(rdfs:label "Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Granulomatous Uveitis) AnnotationAssertion( "A persistent eye inflammation with a grainy surface characterized by blurred vision, mild pain, eye tearing, and mild sensitivity to light."^^xsd:string) AnnotationAssertion( "RDO:9000052"^^xsd:string) AnnotationAssertion( "chronic granulomatous uveitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006842"^^xsd:string) AnnotationAssertion(rdfs:label "Granulomatous Uveitis"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4) AnnotationAssertion(Annotation( "MIM:618129"^^xsd:string) "A disease characterized by onset of proximal muscle weakness in young adulthood."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-10T14:00:22Z"^^xsd:string) AnnotationAssertion( "CAPN3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:618129"^^xsd:string) AnnotationAssertion( "LGMD1I"^^xsd:string) AnnotationAssertion( "LGMDD4"^^xsd:string) AnnotationAssertion( "autosomal dominant limb-girdle muscular dystrophy 4"^^xsd:string) AnnotationAssertion( "limb-girdle muscular dystrophy type 1I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006843"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4"^^xsd:string) SubClassOf( ) # Class: (Streptococcal Infections) AnnotationAssertion(Annotation( "MESH:D013290"^^xsd:string) "Infections with bacteria of the genus STREPTOCOCCUS."^^xsd:string) AnnotationAssertion( "MESH:D013290"^^xsd:string) AnnotationAssertion( "Streptococcal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006844"^^xsd:string) AnnotationAssertion(rdfs:label "Streptococcal Infections"^^xsd:string) SubClassOf( ) # Class: (Striatal Degeneration, Autosomal Dominant) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "MESH:C563783"^^xsd:string) AnnotationAssertion( "MIM:PS609161"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006845"^^xsd:string) AnnotationAssertion(rdfs:label "Striatal Degeneration, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Dysuria) AnnotationAssertion(Annotation( "MESH:D053159"^^xsd:string) "Painful URINATION. It is often associated with infections of the lower URINARY TRACT."^^xsd:string) AnnotationAssertion( "EFO:0003901"^^xsd:string) AnnotationAssertion( "MESH:D053159"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006846"^^xsd:string) AnnotationAssertion(rdfs:label "Dysuria"^^xsd:string) SubClassOf( ) # Class: (fibula fractures) AnnotationAssertion(Annotation( "EFO:0009613"^^xsd:string) "These are traumatic or pathologic injuries to the fibula in which the continuity of the bone is broken."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-24T14:37:12Z"^^xsd:string) AnnotationAssertion( "EFO:0009613"^^xsd:string) AnnotationAssertion( "fibula fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006847"^^xsd:string) AnnotationAssertion(rdfs:label "fibula fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 10 Ring) AnnotationAssertion( "MESH:C538086"^^xsd:string) AnnotationAssertion( "RDO:0004020"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006848"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 10 Ring"^^xsd:string) SubClassOf( ) # Class: (Phosphaturia) AnnotationAssertion( "An excess of phosphates in the urine."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006849"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphaturia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Xp11.3 Deletion Syndrome) AnnotationAssertion( "MIM:300578"^^xsd:string) AnnotationAssertion( "MESH:C564481"^^xsd:string) AnnotationAssertion( "RDO:0013427"^^xsd:string) AnnotationAssertion( "Mental Retardation, X-Linked, With Retinitis Pigmentosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006850"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xp11.3 Deletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620747"^^xsd:string) "This disease is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-24T13:01:52Z"^^xsd:string) AnnotationAssertion( "MIM:620747"^^xsd:string) AnnotationAssertion( "NEDPBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006851"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Waldmann Disease) AnnotationAssertion( "MESH:C536567"^^xsd:string) AnnotationAssertion( "RDO:0002186"^^xsd:string) AnnotationAssertion( "Familial Waldmann's disease"^^xsd:string) AnnotationAssertion( "Primary intestinal lymphangiectasis"^^xsd:string) AnnotationAssertion( "Waldmann's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006852"^^xsd:string) AnnotationAssertion(rdfs:label "Waldmann Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 8) AnnotationAssertion( "MIM:611724"^^xsd:string) AnnotationAssertion( "MESH:C567096"^^xsd:string) AnnotationAssertion( "IRF4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Shep8"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 8, Freckling"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006853"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MPTP Poisoning) AnnotationAssertion(Annotation( "MESH:D020267"^^xsd:string) "A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"^^xsd:string) AnnotationAssertion( "MESH:D020267"^^xsd:string) AnnotationAssertion( "MPTP Induced Degeneration of the Striatum"^^xsd:string) AnnotationAssertion( "MPTP Induced Parkinsonism"^^xsd:string) AnnotationAssertion( "MPTP Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "MPTP Neurotoxicity Syndromes"^^xsd:string) AnnotationAssertion( "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006854"^^xsd:string) AnnotationAssertion(rdfs:label "MPTP Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dog Diseases) AnnotationAssertion(Annotation( "MESH:D004283"^^xsd:string) "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used."^^xsd:string) AnnotationAssertion( "MESH:D004283"^^xsd:string) AnnotationAssertion( "Canine Disease"^^xsd:string) AnnotationAssertion( "Canine Diseases"^^xsd:string) AnnotationAssertion( "Dog Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006855"^^xsd:string) AnnotationAssertion(rdfs:label "Dog Diseases"^^xsd:string) SubClassOf( ) # Class: (Glutamate Monosodium Sensitivity) AnnotationAssertion( "MIM:231630"^^xsd:string) AnnotationAssertion( "MESH:C562377"^^xsd:string) AnnotationAssertion( "Chinese restaurant syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006856"^^xsd:string) AnnotationAssertion(rdfs:label "Glutamate Monosodium Sensitivity"^^xsd:string) SubClassOf( ) # Class: (Bartsocas-Papas Syndrome 2) AnnotationAssertion( "A severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations. Caused by homozygous mutation in the CHUK gene on chromosome 10q24. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-27T11:20:55Z"^^xsd:string) AnnotationAssertion( "MIM:619339"^^xsd:string) AnnotationAssertion( "BPS2"^^xsd:string) AnnotationAssertion( "popliteal pterygium syndrome, Bartsocas-Papas type 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006857"^^xsd:string) AnnotationAssertion(rdfs:label "Bartsocas-Papas Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Endocardial Cushion Defects) AnnotationAssertion(Annotation( "MESH:D004694"^^xsd:string) "A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves."^^xsd:string) AnnotationAssertion( "MESH:D004694"^^xsd:string) AnnotationAssertion( "RDO:0005482"^^xsd:string) AnnotationAssertion( "Endocardial Cushion Defect"^^xsd:string) AnnotationAssertion( "Persistent Common Atrioventricular Canal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006858"^^xsd:string) AnnotationAssertion(rdfs:label "Endocardial Cushion Defects"^^xsd:string) SubClassOf( ) # Class: (BCG Infection, Generalized Familial) AnnotationAssertion( "MESH:C565907"^^xsd:string) AnnotationAssertion( "RDO:0014421"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006859"^^xsd:string) AnnotationAssertion(rdfs:label "BCG Infection, Generalized Familial"^^xsd:string) SubClassOf( ) # Class: (Lipedema) AnnotationAssertion(Annotation( "MESH:D065134"^^xsd:string) "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema."^^xsd:string) AnnotationAssertion( "MIM:614103"^^xsd:string) AnnotationAssertion( "MESH:D065134"^^xsd:string) AnnotationAssertion( "Lipedemas"^^xsd:string) AnnotationAssertion( "Lipoedema"^^xsd:string) AnnotationAssertion( "Lipoedemas"^^xsd:string) AnnotationAssertion( "Lipolymphedema"^^xsd:string) AnnotationAssertion( "Lipolymphedemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006860"^^xsd:string) AnnotationAssertion(rdfs:label "Lipedema"^^xsd:string) SubClassOf( ) # Class: (Porphyria, Chester Type) AnnotationAssertion( "MESH:C536341"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006861"^^xsd:string) AnnotationAssertion(rdfs:label "Porphyria, Chester Type"^^xsd:string) SubClassOf( ) # Class: (PERITONEAL GLIOMATOSIS) AnnotationAssertion(Annotation( "PMID:26564007"^^xsd:string) "A rare condition often associated with immature ovarian teratoma, is characterized by the presence of mature glial tissue in the peritoneum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-13T12:18:33Z"^^xsd:string) AnnotationAssertion( "GP"^^xsd:string) AnnotationAssertion( "PG"^^xsd:string) AnnotationAssertion( "gliomatosis peritonei"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006862"^^xsd:string) AnnotationAssertion(rdfs:label "PERITONEAL GLIOMATOSIS"^^xsd:string) SubClassOf( ) # Class: (Reactive Angioendotheliomatosis) AnnotationAssertion( "MESH:C535293"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006863"^^xsd:string) AnnotationAssertion(rdfs:label "Reactive Angioendotheliomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Trigeminal Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061221"^^xsd:string) "Traumatic injuries to the TRIGEMINAL NERVE. It may result in extreme pain, abnormal sensation in the areas the nerve innervates on face, jaw, gums and tongue and can cause difficulties with speech and chewing. It is sometimes associated with various dental treatments."^^xsd:string) AnnotationAssertion( "MESH:D061221"^^xsd:string) AnnotationAssertion( "RDO:0010058"^^xsd:string) AnnotationAssertion( "Cranial Nerve V Injury"^^xsd:string) AnnotationAssertion( "Fifth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Fifth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Fifth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Fifth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Fifth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Fifth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Traumatic Trigeminal Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Trigeminal Neuropathy"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Contusion"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Contusions"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Injury"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Transection"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Transections"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Trauma"^^xsd:string) AnnotationAssertion( "Trigeminal Nerve Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006864"^^xsd:string) AnnotationAssertion(rdfs:label "Trigeminal Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fever of Unknown Origin) AnnotationAssertion(Annotation( "MESH:D005335"^^xsd:string) "Fever in which the etiology cannot be ascertained."^^xsd:string) AnnotationAssertion( "EFO:0003952"^^xsd:string) AnnotationAssertion( "MESH:D005335"^^xsd:string) AnnotationAssertion( "RDO:0005599"^^xsd:string) AnnotationAssertion( "Unknown Origin Fever"^^xsd:string) AnnotationAssertion( "Unknown Origin Fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006865"^^xsd:string) AnnotationAssertion(rdfs:label "Fever of Unknown Origin"^^xsd:string) SubClassOf( ) # Class: (THROMBOCYTOPENIA 13) AnnotationAssertion(Annotation( "MIM:620776"^^xsd:string) "This disease is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-04T10:10:46Z"^^xsd:string) AnnotationAssertion( "MIM:620776"^^xsd:string) AnnotationAssertion( "THC13"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA 13, SYNDROMIC"^^xsd:string) AnnotationAssertion( "THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 13"^^xsd:string) AnnotationAssertion( "syndromic thrombocytopenia-13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006866"^^xsd:string) AnnotationAssertion(rdfs:label "THROMBOCYTOPENIA 13"^^xsd:string) SubClassOf( ) # Class: (Accessory Navicular Bone) AnnotationAssertion( "MIM:161600"^^xsd:string) AnnotationAssertion( "MESH:C536002"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006867"^^xsd:string) AnnotationAssertion(rdfs:label "Accessory Navicular Bone"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Brown-Pearce Carcinoma) AnnotationAssertion(Annotation( "MESH:D002284"^^xsd:string) "A transplantable EPITHELIAL CELL neoplasm of rabbits."^^xsd:string) AnnotationAssertion( "EFO:1001278"^^xsd:string) AnnotationAssertion( "MESH:D002284"^^xsd:string) AnnotationAssertion( "Brown-Pearce Epithelioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006869"^^xsd:string) AnnotationAssertion(rdfs:label "Brown-Pearce Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Morgellons Disease) AnnotationAssertion(Annotation( "MESH:D055535"^^xsd:string) "An unexplained illness which is characterized by skin manifestations including non-healing lesions, itching, and the appearance of fibers."^^xsd:string) AnnotationAssertion( "MESH:D055535"^^xsd:string) AnnotationAssertion( "Morgellon"^^xsd:string) AnnotationAssertion( "Morgellon's"^^xsd:string) AnnotationAssertion( "Morgellons"^^xsd:string) AnnotationAssertion( "Morgellons Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006870"^^xsd:string) AnnotationAssertion(rdfs:label "Morgellons Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME) AnnotationAssertion(Annotation( "MIM:620186"^^xsd:string) "This disease is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-04-13T12:46:40Z"^^xsd:string) AnnotationAssertion( "KMT2D-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KMT2D-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:620186"^^xsd:string) AnnotationAssertion( "BCAHH"^^xsd:string) AnnotationAssertion( "CHOANAL ATRESIA-ATHELIA-HYPOTHYROIDISM-DELAYED PUBERTY-SHORT STATURE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006871"^^xsd:string) AnnotationAssertion(rdfs:label "BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Synostosis of Talus and Calcaneus with Short Stature) AnnotationAssertion( "MESH:C566089"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006872"^^xsd:string) AnnotationAssertion(rdfs:label "Synostosis of Talus and Calcaneus with Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Odd Shapes of Teeth) AnnotationAssertion( "MIM:187000"^^xsd:string) AnnotationAssertion( "MESH:C566076"^^xsd:string) AnnotationAssertion( "lobodontia"^^xsd:string) AnnotationAssertion( "multiple conical teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006873"^^xsd:string) AnnotationAssertion(rdfs:label "Odd Shapes of Teeth"^^xsd:string) SubClassOf( ) # Class: (Retinal Aplasia) AnnotationAssertion( "MIM:179900"^^xsd:string) AnnotationAssertion( "MESH:C566720"^^xsd:string) AnnotationAssertion( "Amaurosis Congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006874"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Aplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sutton Disease 2) AnnotationAssertion( "MESH:C538145"^^xsd:string) AnnotationAssertion( "Aphthous Stomatitis, Recurrent"^^xsd:string) AnnotationAssertion( "Aphthous Ulcer, Recurrent"^^xsd:string) AnnotationAssertion( "Major Aphthous Ulcer"^^xsd:string) AnnotationAssertion( "Major Canker Sore"^^xsd:string) AnnotationAssertion( "Recurrent Scarring Aphthae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006875"^^xsd:string) AnnotationAssertion(rdfs:label "Sutton Disease 2"^^xsd:string) SubClassOf( ) # Class: (Autoinflammation, Immune Dysregulation, and Eosinophilia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-02T13:31:12Z"^^xsd:string) AnnotationAssertion( "MIM:618999"^^xsd:string) AnnotationAssertion( "AIIDE"^^xsd:string) AnnotationAssertion( "JAK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "atopic dermatitis, enteritis, colitis, and eosinophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006876"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation, Immune Dysregulation, and Eosinophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Insulin-Like Growth Factor I Deficiency) AnnotationAssertion( "MIM:608747"^^xsd:string) AnnotationAssertion( "MESH:C563867"^^xsd:string) AnnotationAssertion( "Growth Retardation with Sensorineural Deafness and Mental Retardation"^^xsd:string) AnnotationAssertion( "IGF1 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006877"^^xsd:string) AnnotationAssertion(rdfs:label "Insulin-Like Growth Factor I Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Exercise Intolerance) AnnotationAssertion( "A symptom primarily found in cardiorespiratory disorders. It is also a common symptom in chronic fatigue syndrome."^^xsd:string) AnnotationAssertion( "OMIA:001466"^^xsd:string) AnnotationAssertion( "MIM:616839"^^xsd:string) AnnotationAssertion( "Exercise-induced collapse"^^xsd:string) AnnotationAssertion( "RREI"^^xsd:string) AnnotationAssertion( "riboflavin-responsive exercise intolerance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006878"^^xsd:string) AnnotationAssertion(rdfs:label "Exercise Intolerance"^^xsd:string) SubClassOf( ) # Class: (Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia) AnnotationAssertion( "MIM:600166"^^xsd:string) AnnotationAssertion( "MESH:C563982"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006879"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia"^^xsd:string) SubClassOf( ) # Class: (Urinary Incontinence) AnnotationAssertion(Annotation( "MESH:D014549"^^xsd:string) "Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE."^^xsd:string) AnnotationAssertion( "MESH:D014549"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006880"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Incontinence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA) AnnotationAssertion(Annotation( "MIM:618808"^^xsd:string) "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth. The phenotype is highly variable."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-21T13:23:38Z"^^xsd:string) AnnotationAssertion( "MIM:618808"^^xsd:string) AnnotationAssertion( "ABCA2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IDPOGSA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006881"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progesterone Resistance) AnnotationAssertion( "MIM:264080"^^xsd:string) AnnotationAssertion( "MESH:C564871"^^xsd:string) AnnotationAssertion( "Pseudocorpus Luteum Insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006882"^^xsd:string) AnnotationAssertion(rdfs:label "Progesterone Resistance"^^xsd:string) SubClassOf( ) # Class: (Sclerosing Lymphocytic Lobulitis) AnnotationAssertion( "MESH:C537524"^^xsd:string) AnnotationAssertion( "Sclerosing lymphocytic lobulitis of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006883"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerosing Lymphocytic Lobulitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts) AnnotationAssertion( "MIM:225740"^^xsd:string) AnnotationAssertion( "MESH:C565596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006884"^^xsd:string) AnnotationAssertion(rdfs:label "Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (large artery stroke) AnnotationAssertion(Annotation( "EFO:0005524"^^xsd:string) "This is a stroke caused by the blockage of blood flow in one of the large arteries feeding the brain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-16T12:07:39Z"^^xsd:string) AnnotationAssertion( "EFO:0005524"^^xsd:string) AnnotationAssertion( "atherosclerotic stroke"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006885"^^xsd:string) AnnotationAssertion(rdfs:label "large artery stroke"^^xsd:string) SubClassOf( ) # Class: (Atrial Septal Defect with Atrioventricular Conduction Defects) AnnotationAssertion( "MESH:C566238"^^xsd:string) AnnotationAssertion( "ASD with Atrioventricular Conduction Defects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006886"^^xsd:string) AnnotationAssertion(rdfs:label "Atrial Septal Defect with Atrioventricular Conduction Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bifidobacteriales Infections) AnnotationAssertion(Annotation( "MESH:D039941"^^xsd:string) "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae."^^xsd:string) AnnotationAssertion( "EFO:1000873"^^xsd:string) AnnotationAssertion( "MESH:D039941"^^xsd:string) AnnotationAssertion( "RDO:0007498"^^xsd:string) AnnotationAssertion( "Bifidobacteriales Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006887"^^xsd:string) AnnotationAssertion(rdfs:label "Bifidobacteriales Infections"^^xsd:string) SubClassOf( ) # Class: (Benign Neonatal Epilepsy, 1) AnnotationAssertion( "MESH:C565164"^^xsd:string) AnnotationAssertion( "Convulsions, Benign Familial Neonatal, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006888"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Neonatal Epilepsy, 1"^^xsd:string) SubClassOf( ) # Class: (Uterine Hemorrhage) AnnotationAssertion(Annotation( "MESH:D014592"^^xsd:string) "Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding."^^xsd:string) AnnotationAssertion( "MESH:D014592"^^xsd:string) AnnotationAssertion( "Uterine Bleeding"^^xsd:string) AnnotationAssertion( "Uterine Bleedings"^^xsd:string) AnnotationAssertion( "Uterine Hemorrhages"^^xsd:string) AnnotationAssertion( "Vaginal Bleeding"^^xsd:string) AnnotationAssertion( "Vaginal Bleedings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006889"^^xsd:string) AnnotationAssertion(rdfs:label "Uterine Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic Uveitis) AnnotationAssertion( "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a slow progressive course of indefinite duration."^^xsd:string) AnnotationAssertion( "RDO:9000100"^^xsd:string) AnnotationAssertion( "chronic inflammation of uveal tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006890"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Uveitis"^^xsd:string) SubClassOf( ) # Class: (Schimke X-Linked Mental Retardation Syndrome) AnnotationAssertion( "MIM:312840"^^xsd:string) AnnotationAssertion( "MESH:C536630"^^xsd:string) AnnotationAssertion( "Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness"^^xsd:string) AnnotationAssertion( "Choreoathetosis with X-linked mental retardation"^^xsd:string) AnnotationAssertion( "Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006891"^^xsd:string) AnnotationAssertion(rdfs:label "Schimke X-Linked Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dyschromatosis Universalis Hereditaria 3) AnnotationAssertion( "RDO:9000936"^^xsd:string) AnnotationAssertion( "MIM:615402"^^xsd:string) AnnotationAssertion( "DUH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006892"^^xsd:string) AnnotationAssertion(rdfs:label "Dyschromatosis Universalis Hereditaria 3"^^xsd:string) SubClassOf( ) # Class: (Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2) AnnotationAssertion( "MIM:610185"^^xsd:string) AnnotationAssertion( "MESH:C567656"^^xsd:string) AnnotationAssertion( "CAMRQ2"^^xsd:string) AnnotationAssertion( "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006893"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Oral Manifestations) AnnotationAssertion(Annotation( "MESH:D009912"^^xsd:string) "Disorders of the mouth attendant upon non-oral disease or injury."^^xsd:string) AnnotationAssertion( "MESH:D009912"^^xsd:string) AnnotationAssertion( "Oral Manifestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006894"^^xsd:string) AnnotationAssertion(rdfs:label "Oral Manifestations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vasquez Hurst Sotos Syndrome) AnnotationAssertion( "MESH:C536533"^^xsd:string) AnnotationAssertion( "RDO:0002144"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006895"^^xsd:string) AnnotationAssertion(rdfs:label "Vasquez Hurst Sotos Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Usher Syndrome, Type ID/F) AnnotationAssertion( "MESH:C567409"^^xsd:string) AnnotationAssertion( "RDO:0015487"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type 1D/F"^^xsd:string) AnnotationAssertion( "Usher Syndrome, Type ID/F, Digenic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006896"^^xsd:string) AnnotationAssertion(rdfs:label "Usher Syndrome, Type ID/F"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atelosteogenesis Type 2) AnnotationAssertion( "MIM:256050"^^xsd:string) AnnotationAssertion( "MESH:C535395"^^xsd:string) AnnotationAssertion( "AO2"^^xsd:string) AnnotationAssertion( "AOII"^^xsd:string) AnnotationAssertion( "Atelosteogenesis, Type II"^^xsd:string) AnnotationAssertion( "De La Chapelle Dysplasia"^^xsd:string) AnnotationAssertion( "McAlister Dysplasia"^^xsd:string) AnnotationAssertion( "Neonatal osseous dysplasia 1"^^xsd:string) AnnotationAssertion( "atelosteogenesis De La Chapelle type"^^xsd:string) AnnotationAssertion( "neonatal osseous dysplasia I"^^xsd:string) AnnotationAssertion( "DLCD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006897"^^xsd:string) AnnotationAssertion(rdfs:label "Atelosteogenesis Type 2"^^xsd:string) SubClassOf( ) # Class: (Olfactory Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061219"^^xsd:string) "Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell."^^xsd:string) AnnotationAssertion( "RDO:0010056"^^xsd:string) AnnotationAssertion( "MESH:D061219"^^xsd:string) AnnotationAssertion( "Cranial Nerve I Injury"^^xsd:string) AnnotationAssertion( "First Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "First Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "First Nerve Trauma"^^xsd:string) AnnotationAssertion( "First-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Contusion"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Contusions"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Injury"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Transection"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Transections"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Trauma"^^xsd:string) AnnotationAssertion( "Olfactory Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic First Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic First-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Traumatic Olfactory Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Olfactory Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006898"^^xsd:string) AnnotationAssertion(rdfs:label "Olfactory Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (North American Indian Childhood Cirrhosis) AnnotationAssertion( "MIM:604901"^^xsd:string) AnnotationAssertion( "MESH:C565737"^^xsd:string) AnnotationAssertion( "HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS"^^xsd:string) AnnotationAssertion( "NAIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006899"^^xsd:string) AnnotationAssertion(rdfs:label "North American Indian Childhood Cirrhosis"^^xsd:string) SubClassOf( ) # Class: (Inosine Phosphorylase Deficiency, Immune Defect Due To) AnnotationAssertion( "MIM:243080"^^xsd:string) AnnotationAssertion( "MESH:C565465"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006900"^^xsd:string) AnnotationAssertion(rdfs:label "Inosine Phosphorylase Deficiency, Immune Defect Due To"^^xsd:string) SubClassOf( ) # Class: (Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy) AnnotationAssertion(Annotation( "EFO:0009158"^^xsd:string) "This disease is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-20T08:24:30Z"^^xsd:string) AnnotationAssertion( "EFO:0009158"^^xsd:string) AnnotationAssertion( "MIM:PS617186"^^xsd:string) AnnotationAssertion( "PEBEL"^^xsd:string) AnnotationAssertion( "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006901"^^xsd:string) AnnotationAssertion(rdfs:label "Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frenkel Russe Syndrome) AnnotationAssertion( "MIM:267900"^^xsd:string) AnnotationAssertion( "MESH:C535638"^^xsd:string) AnnotationAssertion( "retinal telangiectasia and hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "retinal telangiectasia associated with hypogammaglobulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006902"^^xsd:string) AnnotationAssertion(rdfs:label "Frenkel Russe Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bilateral Choroidal Osteoma) AnnotationAssertion( "MIM:118865"^^xsd:string) AnnotationAssertion( "MESH:C566124"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006906"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Choroidal Osteoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, J) AnnotationAssertion( "MIM:608695"^^xsd:string) AnnotationAssertion( "MESH:C563874"^^xsd:string) AnnotationAssertion( "GLC1J"^^xsd:string) AnnotationAssertion( "Glaucoma, Primary Open Angle, Juvenile-Onset, 2"^^xsd:string) AnnotationAssertion( "JOAG2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006907"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, J"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Porokeratosis, Disseminated Superficial Actinic, 8) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK8 is caused by heterozygous mutation in the SLC17A9 gene on chromosome 20q13. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616063"^^xsd:string) AnnotationAssertion( "POROK8"^^xsd:string) AnnotationAssertion( "porokeratosis 8, disseminated superficial actinic type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006909"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis, Disseminated Superficial Actinic, 8"^^xsd:string) SubClassOf( ) # Class: (Red Cell Phospholipid Defect with Hemolysis) AnnotationAssertion( "MIM:179700"^^xsd:string) AnnotationAssertion( "MESH:C535298"^^xsd:string) AnnotationAssertion( "High red cell phosphatidylcholine hemolytic anemia"^^xsd:string) AnnotationAssertion( "Leaky Red cell syndrome"^^xsd:string) AnnotationAssertion( "Phosphatidylcholine Red cell membrane disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006910"^^xsd:string) AnnotationAssertion(rdfs:label "Red Cell Phospholipid Defect with Hemolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types, 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-07-22T10:52:16Z"^^xsd:string) AnnotationAssertion( "MIM:614954"^^xsd:string) AnnotationAssertion( "CHTD3"^^xsd:string) AnnotationAssertion( "congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006911"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 3"^^xsd:string) SubClassOf( ) # Class: (Acute Alcohol Sensitivity) AnnotationAssertion( "MIM:610251"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HANGOVER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9006912"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Alcohol Sensitivity"^^xsd:string) SubClassOf( ) # Class: (Short Sleep) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-19T10:18:47Z"^^xsd:string) AnnotationAssertion( "EFO:0004807"^^xsd:string) AnnotationAssertion( "MIM:PS612975"^^xsd:string) AnnotationAssertion( "Short Sleep Phenotype"^^xsd:string) AnnotationAssertion( "Short Sleep Phenotypes"^^xsd:string) AnnotationAssertion( "Short Sleeper"^^xsd:string) AnnotationAssertion( "Short Sleeper Syndrome"^^xsd:string) AnnotationAssertion( "Short Sleeper Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006913"^^xsd:string) AnnotationAssertion(rdfs:label "Short Sleep"^^xsd:string) SubClassOf( ) # Class: (Defect in Hyaluronan Metabolism) AnnotationAssertion( "MIM:604855"^^xsd:string) AnnotationAssertion( "MESH:C565742"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006914"^^xsd:string) AnnotationAssertion(rdfs:label "Defect in Hyaluronan Metabolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GSD IV, combined hepatic and myopathic) AnnotationAssertion( "RDO:9000326"^^xsd:string) AnnotationAssertion( "glycogen storage disease IV, combined hepatic and myopathic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006915"^^xsd:string) AnnotationAssertion(rdfs:label "GSD IV, combined hepatic and myopathic"^^xsd:string) SubClassOf( ) # Class: (Hepatic Granuloma) AnnotationAssertion(Annotation( "MESH:D006099"^^xsd:string) "This is a relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents in the liver."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-09T16:47:19Z"^^xsd:string) AnnotationAssertion( "EFO:1000291"^^xsd:string) AnnotationAssertion( "MONDO:0006241"^^xsd:string) AnnotationAssertion( "NCI:C4936"^^xsd:string) AnnotationAssertion( "liver granuloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006916"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatic Granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (lobar intracerebral hemorrhage) AnnotationAssertion(Annotation( "EFO:0010177"^^xsd:string) "This is an intracerebral hemorrhage occuring within the cerebral lobes, either in the cerebral cortex or in the cortical-subcortical junction."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-03T14:59:42Z"^^xsd:string) AnnotationAssertion( "EFO:0010177"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006918"^^xsd:string) AnnotationAssertion(rdfs:label "lobar intracerebral hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Humoral Hypercalcemia Of Malignancy) AnnotationAssertion( "MESH:C562390"^^xsd:string) AnnotationAssertion( "RDO:0012138"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006919"^^xsd:string) AnnotationAssertion(rdfs:label "Humoral Hypercalcemia Of Malignancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA) AnnotationAssertion( "MIM:616819"^^xsd:string) AnnotationAssertion( "BIRK-FLUSSER SYNDROME"^^xsd:string) AnnotationAssertion( "CCAFCA"^^xsd:string) AnnotationAssertion( "FINE-FLUSSER SYNDROME"^^xsd:string) AnnotationAssertion( "agenesis of the corpus callosum with facial anomalies and cerebellar ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006921"^^xsd:string) AnnotationAssertion(rdfs:label "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adenocarcinoid Tumor) AnnotationAssertion( "RDO:0004183"^^xsd:string) AnnotationAssertion( "MESH:C538230"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006922"^^xsd:string) AnnotationAssertion(rdfs:label "Adenocarcinoid Tumor"^^xsd:string) SubClassOf( ) # Class: (Caliciviridae Infections) AnnotationAssertion(Annotation( "MESH:D017250"^^xsd:string) "Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans."^^xsd:string) AnnotationAssertion( "EFO:0007189"^^xsd:string) AnnotationAssertion( "MESH:D017250"^^xsd:string) AnnotationAssertion( "Caliciviridae Infection"^^xsd:string) AnnotationAssertion( "Caliciviridae infectious disease"^^xsd:string) AnnotationAssertion( "Calicivirus Infection"^^xsd:string) AnnotationAssertion( "Calicivirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006923"^^xsd:string) AnnotationAssertion(rdfs:label "Caliciviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Cardiogenic Shock) AnnotationAssertion(Annotation( "MESH:D012770"^^xsd:string) "Shock resulting from diminution of cardiac output in heart disease."^^xsd:string) AnnotationAssertion( "MESH:D012770"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006924"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiogenic Shock"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hepatic Echinococcosis) AnnotationAssertion(Annotation( "MESH:D004444"^^xsd:string) "Liver disease caused by infections with parasitic tapeworms of the genus ECHINOCOCCUS, such as Echinococcus granulosus or Echinococcus multilocularis. Ingested Echinococcus ova burrow into the intestinal mucosa. The larval migration to the liver via the PORTAL VEIN leads to watery vesicles (HYDATID CYST)."^^xsd:string) AnnotationAssertion( "RDO:0002220"^^xsd:string) AnnotationAssertion( "MESH:D004444"^^xsd:string) AnnotationAssertion( "Hepatic Alveolar Echinococcis"^^xsd:string) AnnotationAssertion( "Hepatic Alveolar Echinococcoses"^^xsd:string) AnnotationAssertion( "Hepatic Alveolar Echinococcosis"^^xsd:string) AnnotationAssertion( "Hepatic Echinococcoses"^^xsd:string) AnnotationAssertion( "Hepatic Hydatid Cyst"^^xsd:string) AnnotationAssertion( "Hepatic Hydatid Cysts"^^xsd:string) AnnotationAssertion( "Hepatic Hydatidoses"^^xsd:string) AnnotationAssertion( "Hepatic Hydatidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006925"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatic Echinococcosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Karoshi Death) AnnotationAssertion(Annotation( "MESH:D065907"^^xsd:string) "Sudden death from overwork, most often as a result of acute CARDIOVASCULAR STROKE."^^xsd:string) AnnotationAssertion( "MESH:D065907"^^xsd:string) AnnotationAssertion( "Karoshi deaths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006926"^^xsd:string) AnnotationAssertion(rdfs:label "Karoshi Death"^^xsd:string) SubClassOf( ) # Class: (Thyrotoxic Periodic Paralysis) AnnotationAssertion( "A rare condition featuring recurrent episodes of skeletal muscle weakness that occurs only in people with high thyroid hormone levels (thyrotoxicosis)."^^xsd:string) AnnotationAssertion( "MIM:188580"^^xsd:string) AnnotationAssertion( "MIM:613239"^^xsd:string) AnnotationAssertion( "MIM:614834"^^xsd:string) AnnotationAssertion( "MIM:PS188580"^^xsd:string) AnnotationAssertion( "MONDO:0019201"^^xsd:string) AnnotationAssertion( "TTPP1"^^xsd:string) AnnotationAssertion( "TTPP2"^^xsd:string) AnnotationAssertion( "TTPP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Thyrotoxic Periodic Paralysis, Susceptibility To, 1"^^xsd:string) AnnotationAssertion( "Thyrotoxic Periodic Paralysis, Susceptibility To, 2"^^xsd:string) AnnotationAssertion( "Thyrotoxic Periodic Paralysis, Susceptibility To, 3"^^xsd:string) AnnotationAssertion( "DOID:9006927"^^xsd:string) AnnotationAssertion(rdfs:label "Thyrotoxic Periodic Paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Viral Bronchiolitis) AnnotationAssertion(Annotation( "MESH:D001990"^^xsd:string) "An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS."^^xsd:string) AnnotationAssertion( "MESH:D001990"^^xsd:string) AnnotationAssertion( "Viral Bronchiolitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006928"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Bronchiolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neonatal Herpes) AnnotationAssertion( "MESH:C536395"^^xsd:string) AnnotationAssertion( "RDO:0001967"^^xsd:string) AnnotationAssertion( "Neonatal herpes simplex virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006929"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Herpes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Generalized Epilepsy with Febrile Seizures Plus, Type 5) AnnotationAssertion( "MESH:C565812"^^xsd:string) AnnotationAssertion( "GEFS, Type 5"^^xsd:string) AnnotationAssertion( "GEFSP5"^^xsd:string) AnnotationAssertion( "GEFS5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GEFS+, TYPE 5, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "GEFS+5, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "GEFSP5, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9006930"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epilepsy with Febrile Seizures Plus, Type 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Humeroradial Synostosis with Craniofacial Anomalies) AnnotationAssertion( "MIM:236410"^^xsd:string) AnnotationAssertion( "MESH:C566888"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006931"^^xsd:string) AnnotationAssertion(rdfs:label "Humeroradial Synostosis with Craniofacial Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mental Retardation X-Linked, South African Type) AnnotationAssertion( "MESH:C537450"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006932"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation X-Linked, South African Type"^^xsd:string) SubClassOf( ) # Class: (Mucopolysaccharidosis-Plus Syndrome) AnnotationAssertion( "An autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases. Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617303"^^xsd:string) AnnotationAssertion( "MPSPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006933"^^xsd:string) AnnotationAssertion(rdfs:label "Mucopolysaccharidosis-Plus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Digital Arthropathy-Brachydactyly, Familial) AnnotationAssertion( "MIM:606835"^^xsd:string) AnnotationAssertion( "MESH:C564656"^^xsd:string) AnnotationAssertion( "NCI:C175208"^^xsd:string) AnnotationAssertion( "FDAB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006934"^^xsd:string) AnnotationAssertion(rdfs:label "Digital Arthropathy-Brachydactyly, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Annular Epidermolytic Ichthyosis 2) AnnotationAssertion(Annotation( "MIM:620148"^^xsd:string) "A disease characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Caused by heterozygous mutation in the keratin-1 gene KRT1."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-06T08:26:49Z"^^xsd:string) AnnotationAssertion( "MIM:620148"^^xsd:string) AnnotationAssertion( "AEI2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006935"^^xsd:string) AnnotationAssertion(rdfs:label "Annular Epidermolytic Ichthyosis 2"^^xsd:string) SubClassOf( ) # Class: (Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006936"^^xsd:string) AnnotationAssertion(rdfs:label "Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (NSAID-Enteropathy) AnnotationAssertion( "Injury of the small intestine caused by non-steroidal anti-inflammatory drugs involving lesions that may contribute to ulceration."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "NSAID-induced enteropathy"^^xsd:string) AnnotationAssertion( "nonsteroidal anti-inflammatory drug-induced enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NSAID-gastroenteropathy"^^xsd:string) AnnotationAssertion( "DOID:9006937"^^xsd:string) AnnotationAssertion(rdfs:label "NSAID-Enteropathy"^^xsd:string) SubClassOf( ) # Class: (Ptosis, Strabismus, and Ectopic Pupils) AnnotationAssertion( "MIM:178330"^^xsd:string) AnnotationAssertion( "MESH:C566736"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006938"^^xsd:string) AnnotationAssertion(rdfs:label "Ptosis, Strabismus, and Ectopic Pupils"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lyme Neuroborreliosis) AnnotationAssertion(Annotation( "MESH:D020852"^^xsd:string) "Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91)"^^xsd:string) AnnotationAssertion( "MESH:D020852"^^xsd:string) AnnotationAssertion( "Borrelia burgdorferi Neuroborreliosis"^^xsd:string) AnnotationAssertion( "Central Nervous System Lyme Disease"^^xsd:string) AnnotationAssertion( "Lyme Disease Encephalopathies"^^xsd:string) AnnotationAssertion( "Lyme Disease Encephalopathy"^^xsd:string) AnnotationAssertion( "Lyme Disease Mononeuritis Multiplex"^^xsd:string) AnnotationAssertion( "Lyme Meningoencephalitis"^^xsd:string) AnnotationAssertion( "Lyme Meningoradiculitis"^^xsd:string) AnnotationAssertion( "Lyme Polyradiculitides"^^xsd:string) AnnotationAssertion( "Lyme Polyradiculitis"^^xsd:string) AnnotationAssertion( "Lyme Polyradiculopathies"^^xsd:string) AnnotationAssertion( "Lyme Polyradiculopathy"^^xsd:string) AnnotationAssertion( "Nervous System Lyme Borreliosis"^^xsd:string) AnnotationAssertion( "Nervous System Lyme Disease"^^xsd:string) AnnotationAssertion( "Neuroborrelioses, Borrelia burgdorferi"^^xsd:string) AnnotationAssertion( "Peripheral Nervous System Lyme Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006939"^^xsd:string) AnnotationAssertion(rdfs:label "Lyme Neuroborreliosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ring Chromosomes) AnnotationAssertion(Annotation( "MESH:D012303"^^xsd:string) "Aberrant chromosomes with no ends, i.e., circular."^^xsd:string) AnnotationAssertion( "MESH:D012303"^^xsd:string) AnnotationAssertion( "RDO:0000443"^^xsd:string) AnnotationAssertion( "Ring Chromosome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006940"^^xsd:string) AnnotationAssertion(rdfs:label "Ring Chromosomes"^^xsd:string) SubClassOf( ) # Class: (Corneal Perforation) AnnotationAssertion(Annotation( "MESH:D057112"^^xsd:string) "A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma."^^xsd:string) AnnotationAssertion( "MESH:D057112"^^xsd:string) AnnotationAssertion( "RDO:0007782"^^xsd:string) AnnotationAssertion( "Corneal Perforations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006941"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Perforation"^^xsd:string) SubClassOf( ) # Class: (Familial Febrile Seizures 3A) AnnotationAssertion( "MESH:C567820"^^xsd:string) AnnotationAssertion( "NCI:C176016"^^xsd:string) AnnotationAssertion( "Familial Febrile Convulsions 3A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006942"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Febrile Seizures 3A"^^xsd:string) SubClassOf( ) # Class: (GARG-MISHRA PROGEROID SYNDROME) AnnotationAssertion(Annotation( "MIM:620601"^^xsd:string) "This disease is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-29T14:18:19Z"^^xsd:string) AnnotationAssertion( "MIM:620601"^^xsd:string) AnnotationAssertion( "GMPGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006943"^^xsd:string) AnnotationAssertion(rdfs:label "GARG-MISHRA PROGEROID SYNDROME"^^xsd:string) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) # Class: (Alcoholic Fatty Liver) AnnotationAssertion(Annotation( "MESH:D005235"^^xsd:string) "Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated."^^xsd:string) AnnotationAssertion( "RDO:0005579"^^xsd:string) AnnotationAssertion( "MESH:D005235"^^xsd:string) AnnotationAssertion( "alcoholic steatohepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006944"^^xsd:string) AnnotationAssertion(rdfs:label "Alcoholic Fatty Liver"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diabetic Cardiomyopathies) AnnotationAssertion(Annotation( "MESH:D058065"^^xsd:string) "Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance."^^xsd:string) AnnotationAssertion( "EFO:1001458"^^xsd:string) AnnotationAssertion( "MESH:D058065"^^xsd:string) AnnotationAssertion( "RDO:0007809"^^xsd:string) AnnotationAssertion( "Diabetic Cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006945"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Cardiomyopathies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nonimmune Chronic Idiopathic Neutropenia, Adult) AnnotationAssertion( "MIM:607847"^^xsd:string) AnnotationAssertion( "MESH:C564320"^^xsd:string) AnnotationAssertion( "NI-CINA"^^xsd:string) AnnotationAssertion( "Nonimmune Chronic Idiopathic Neutropenia of Adults"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006946"^^xsd:string) AnnotationAssertion(rdfs:label "Nonimmune Chronic Idiopathic Neutropenia, Adult"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fibroadenoma) AnnotationAssertion(Annotation( "MESH:D018226"^^xsd:string) "An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000254"^^xsd:string) AnnotationAssertion( "MESH:D018226"^^xsd:string) AnnotationAssertion( "fibroadenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006947"^^xsd:string) AnnotationAssertion(rdfs:label "Fibroadenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vascular Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D009383"^^xsd:string) "Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels."^^xsd:string) AnnotationAssertion( "MESH:D009383"^^xsd:string) AnnotationAssertion( "blood vessel neoplasm"^^xsd:string) AnnotationAssertion( "blood vessel tumor"^^xsd:string) AnnotationAssertion( "blood vessel tumors"^^xsd:string) AnnotationAssertion( "blood vessel tumour disorder"^^xsd:string) AnnotationAssertion( "haemangiomatous tumour"^^xsd:string) AnnotationAssertion( "neoplasm of great vessel"^^xsd:string) AnnotationAssertion( "vascular tissue neoplasm"^^xsd:string) AnnotationAssertion( "vascular tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006948"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Tissue Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Martsolf Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-10T16:06:00Z"^^xsd:string) AnnotationAssertion( "GARD:3406"^^xsd:string) AnnotationAssertion( "MESH:C536028"^^xsd:string) AnnotationAssertion( "MIM:PS212720"^^xsd:string) AnnotationAssertion( "ORDO:1387"^^xsd:string) AnnotationAssertion( "cataract-intellectual disability-hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "cataract-mental retardation-hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006949"^^xsd:string) AnnotationAssertion(rdfs:label "Martsolf Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sternal Cleft) AnnotationAssertion( "MESH:C537489"^^xsd:string) AnnotationAssertion( "Congenital sternal cleft"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006950"^^xsd:string) AnnotationAssertion(rdfs:label "Sternal Cleft"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 70) AnnotationAssertion(Annotation( "MIM:620157"^^xsd:string) "A disease characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. Caused by a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-16T12:11:01Z"^^xsd:string) AnnotationAssertion( "MIM:620157"^^xsd:string) AnnotationAssertion( "MRD70"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006951"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 70"^^xsd:string) SubClassOf( ) # Class: (Chromosome 19 Ring) AnnotationAssertion( "MESH:C538310"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006952"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 19 Ring"^^xsd:string) SubClassOf( ) # Class: (Seow Najjar Syndrome) AnnotationAssertion( "MESH:C537584"^^xsd:string) AnnotationAssertion( "RDO:0003450"^^xsd:string) AnnotationAssertion( "Enamel hypoplasia, capsular cataracts, and ductal stenosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006953"^^xsd:string) AnnotationAssertion(rdfs:label "Seow Najjar Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypertrophic Neuropathy and Cataract) AnnotationAssertion( "MIM:239900"^^xsd:string) AnnotationAssertion( "MESH:C565490"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006955"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophic Neuropathy and Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nephrotoxicity) AnnotationAssertion(Annotation( "EFO:0011056"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Nephrotoxicity"^^xsd:string) "This is toxicity that causes injury to the kidney or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-13T15:06:38Z"^^xsd:string) AnnotationAssertion( "EFO:0011056"^^xsd:string) AnnotationAssertion( "kidney toxicity"^^xsd:string) AnnotationAssertion( "renal toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006956"^^xsd:string) AnnotationAssertion(rdfs:label "nephrotoxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lymphatic Malformation 8) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-13T08:19:16Z"^^xsd:string) AnnotationAssertion( "MIM:618773"^^xsd:string) AnnotationAssertion( "LMPHM8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006957"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 8"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Generalized Arterial Calcification of Infancy, 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-15T12:01:49Z"^^xsd:string) AnnotationAssertion( "MIM:208000"^^xsd:string) AnnotationAssertion( "NCI:C128805"^^xsd:string) AnnotationAssertion( "GACI1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006958"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Arterial Calcification of Infancy, 1"^^xsd:string) SubClassOf( ) # Class: (Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin) AnnotationAssertion( "MIM:603529"^^xsd:string) AnnotationAssertion( "MESH:C566368"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006959"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin"^^xsd:string) SubClassOf( ) # Class: (Perimeningeal Infections) AnnotationAssertion(Annotation( "MESH:D020819"^^xsd:string) "Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord."^^xsd:string) AnnotationAssertion( "EFO:1001392"^^xsd:string) AnnotationAssertion( "MESH:D020819"^^xsd:string) AnnotationAssertion( "RDO:0006638"^^xsd:string) AnnotationAssertion( "Parameningeal Infection"^^xsd:string) AnnotationAssertion( "Parameningeal Infections"^^xsd:string) AnnotationAssertion( "Perimeningeal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006960"^^xsd:string) AnnotationAssertion(rdfs:label "Perimeningeal Infections"^^xsd:string) SubClassOf( ) # Class: (Asthma and Nasal Polyps) AnnotationAssertion( "MESH:C565739"^^xsd:string) AnnotationAssertion( "RDO:0014297"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006961"^^xsd:string) AnnotationAssertion(rdfs:label "Asthma and Nasal Polyps"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Takenouchi-Kosaki Syndrome) AnnotationAssertion( "MIM:616737"^^xsd:string) AnnotationAssertion( "TKS"^^xsd:string) AnnotationAssertion( "macrothrombocytopenia and mental retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006962"^^xsd:string) AnnotationAssertion(rdfs:label "Takenouchi-Kosaki Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism Type IB1, Autosomal Recessive) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-05T08:47:56Z"^^xsd:string) AnnotationAssertion( "MIM:264350"^^xsd:string) AnnotationAssertion( "PHA1B1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006963"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism Type IB1, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pseudomonas Aeruginosa Keratitis) AnnotationAssertion( "Pseudomonas aeruginosa infection of the cornea which sometime follows the wearing of contact lenses."^^xsd:string) AnnotationAssertion( "RDO:9000040"^^xsd:string) AnnotationAssertion( "PA keratitis"^^xsd:string) AnnotationAssertion( "Pseudomonas keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006966"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudomonas Aeruginosa Keratitis"^^xsd:string) SubClassOf( ) # Class: (Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia) AnnotationAssertion( "MIM:135400"^^xsd:string) AnnotationAssertion( "MESH:C565016"^^xsd:string) AnnotationAssertion( "CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "Chromosome 17q24.2-q24.3 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "Fibromatosis, Gingival, with Hypertrichosis"^^xsd:string) AnnotationAssertion( "HTC3"^^xsd:string) AnnotationAssertion( "HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA"^^xsd:string) AnnotationAssertion( "MICRODUPLICATION 17q24.2-q24.3 SYNDROME"^^xsd:string) AnnotationAssertion( "Microdeletion 17q24.2-q24.3 Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006967"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pleoconial Myopathy with Salt Craving) AnnotationAssertion( "MIM:262900"^^xsd:string) AnnotationAssertion( "MESH:C564883"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006968"^^xsd:string) AnnotationAssertion(rdfs:label "Pleoconial Myopathy with Salt Craving"^^xsd:string) SubClassOf( ) # Class: (Poor Metabolism of Thiopurines, 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T10:09:44Z"^^xsd:string) AnnotationAssertion( "MIM:610460"^^xsd:string) AnnotationAssertion( "THPM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006969"^^xsd:string) AnnotationAssertion(rdfs:label "Poor Metabolism of Thiopurines, 1"^^xsd:string) SubClassOf( ) # Class: (Cestode Infections) AnnotationAssertion(Annotation( "MESH:D002590"^^xsd:string) "Infections with true tapeworms of the helminth subclass CESTODA."^^xsd:string) AnnotationAssertion( "EFO:1001287"^^xsd:string) AnnotationAssertion( "MESH:D002590"^^xsd:string) AnnotationAssertion( "Bertielliases"^^xsd:string) AnnotationAssertion( "Bertielliasis"^^xsd:string) AnnotationAssertion( "Cenuriases"^^xsd:string) AnnotationAssertion( "Cenuriasis"^^xsd:string) AnnotationAssertion( "Cestode Infection"^^xsd:string) AnnotationAssertion( "Coenuriases"^^xsd:string) AnnotationAssertion( "Coenuriasis"^^xsd:string) AnnotationAssertion( "Dipylidiases"^^xsd:string) AnnotationAssertion( "Dipylidiasis"^^xsd:string) AnnotationAssertion( "Raillietiniases"^^xsd:string) AnnotationAssertion( "Raillietiniasis"^^xsd:string) AnnotationAssertion( "Tapeworm Infection"^^xsd:string) AnnotationAssertion( "Tapeworm Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006970"^^xsd:string) AnnotationAssertion(rdfs:label "Cestode Infections"^^xsd:string) SubClassOf( ) # Class: (Thyroid Carcinoma, Nonmedullary 1) AnnotationAssertion( "MIM:188550"^^xsd:string) AnnotationAssertion( "MIM:606240"^^xsd:string) AnnotationAssertion( "RDO:0009018"^^xsd:string) AnnotationAssertion( "MESH:C565247"^^xsd:string) AnnotationAssertion( "RDO:0013942"^^xsd:string) AnnotationAssertion( "NMTC1"^^xsd:string) AnnotationAssertion( "NMTC3"^^xsd:string) AnnotationAssertion( "THYROID CANCER, NONMEDULLARY, 1"^^xsd:string) AnnotationAssertion( "THYROID CANCER, NONMEDULLARY, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006971"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Carcinoma, Nonmedullary 1"^^xsd:string) SubClassOf( ) # Class: (Renal Cell Carcinoma 1) AnnotationAssertion( "MESH:C538557"^^xsd:string) AnnotationAssertion( "RDO:0004499"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006972"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Cell Carcinoma 1"^^xsd:string) SubClassOf( ) # Class: (Acute Experimental Autoimmune Encephalomyelitis) AnnotationAssertion( "An acute version of EAE, an experimental animal model for central nervous system demyelinating disease, in which focal demyelination is mild."^^xsd:string) AnnotationAssertion( "RDO:9000097"^^xsd:string) AnnotationAssertion( "acute experimental allergic encephalomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006973"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Experimental Autoimmune Encephalomyelitis"^^xsd:string) SubClassOf( ) # Class: (Podder-Tolmie Syndrome) AnnotationAssertion( "MESH:C537518"^^xsd:string) AnnotationAssertion( "Meningoencephalocele, arthrogryposis and hypoplastic thumbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006974"^^xsd:string) AnnotationAssertion(rdfs:label "Podder-Tolmie Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa) AnnotationAssertion( "MIM:609047"^^xsd:string) AnnotationAssertion( "MESH:C563806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006975"^^xsd:string) AnnotationAssertion(rdfs:label "Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Erythema) AnnotationAssertion(Annotation( "MESH:D004890"^^xsd:string) "Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes."^^xsd:string) AnnotationAssertion( "MESH:D004890"^^xsd:string) AnnotationAssertion( "Erythemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006976"^^xsd:string) AnnotationAssertion(rdfs:label "Erythema"^^xsd:string) SubClassOf( ) # Class: (Rickettsial Pneumonia) AnnotationAssertion(Annotation( "MESH:D011022"^^xsd:string) "Pneumonia caused by infection with bacteria of the family RICKETTSIACEAE."^^xsd:string) AnnotationAssertion( "EFO:0007472"^^xsd:string) AnnotationAssertion( "MESH:D011022"^^xsd:string) AnnotationAssertion( "Rickettsial Pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006977"^^xsd:string) AnnotationAssertion(rdfs:label "Rickettsial Pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactyly, Type A2, With Microcephaly) AnnotationAssertion( "MIM:211369"^^xsd:string) AnnotationAssertion( "MESH:C565894"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006978"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactyly, Type A2, With Microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bacterial Sexually Transmitted Diseases) AnnotationAssertion(Annotation( "MESH:D015231"^^xsd:string) "Bacterial diseases transmitted or propagated by sexual conduct."^^xsd:string) AnnotationAssertion( "RDO:0005183"^^xsd:string) AnnotationAssertion( "EFO:0003955"^^xsd:string) AnnotationAssertion( "MESH:D015231"^^xsd:string) AnnotationAssertion( "Bacterial Sexually Transmitted Disease"^^xsd:string) AnnotationAssertion( "Bacterial Venereal Disease"^^xsd:string) AnnotationAssertion( "Bacterial Venereal Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006980"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Sexually Transmitted Diseases"^^xsd:string) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 21) AnnotationAssertion(Annotation( "MIM:620610"^^xsd:string) "A female infertility caused by zygote arrest due to pronuclei fusion failure. Caused by heterozygous mutation in the CHEK1 gene on chromosome 11q24."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T12:50:00Z"^^xsd:string) AnnotationAssertion( "MIM:620610"^^xsd:string) AnnotationAssertion( "OZEMA21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006981"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 21"^^xsd:string) SubClassOf( ) # Class: (Ovotesticular Disorders of Sex Development) AnnotationAssertion(Annotation( "MESH:D050090"^^xsd:string) "Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism."^^xsd:string) AnnotationAssertion( "MESH:D050090"^^xsd:string) AnnotationAssertion( "NCI:C85207"^^xsd:string) AnnotationAssertion( "RDO:0007567"^^xsd:string) AnnotationAssertion( "46,XX Gonadal Dysgenesis, Complete, Sry-Positive"^^xsd:string) AnnotationAssertion( "46,XX True Hermaphroditism, Sry-Positive"^^xsd:string) AnnotationAssertion( "Familial True Hermaphroditism"^^xsd:string) AnnotationAssertion( "Familial True Hermaphroditisms"^^xsd:string) AnnotationAssertion( "Familial XX True Hermaphroditism"^^xsd:string) AnnotationAssertion( "Ovotesticular DSD"^^xsd:string) AnnotationAssertion( "Ovotesticular DSDs"^^xsd:string) AnnotationAssertion( "Ovotesticular Disorder Of Sex Development"^^xsd:string) AnnotationAssertion( "True Hermaphroditism"^^xsd:string) AnnotationAssertion( "True Hermaphroditisms"^^xsd:string) AnnotationAssertion( "XX Male Syndrome, Sry Positive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006982"^^xsd:string) AnnotationAssertion(rdfs:label "Ovotesticular Disorders of Sex Development"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Juvenile-Onset Dystonia) AnnotationAssertion( "MIM:607371"^^xsd:string) AnnotationAssertion( "RDO:0003589"^^xsd:string) AnnotationAssertion( "ACTB-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "MESH:C537704"^^xsd:string) AnnotationAssertion( "DJO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006985"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile-Onset Dystonia"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Enteropathy) AnnotationAssertion( "MESH:C538273"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006986"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Enteropathy"^^xsd:string) SubClassOf( ) # Class: (Fitzsimmons-McLachlan-Gilbert syndrome) AnnotationAssertion( "MIM:309560"^^xsd:string) AnnotationAssertion( "MESH:C537058"^^xsd:string) AnnotationAssertion( "Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006987"^^xsd:string) AnnotationAssertion(rdfs:label "Fitzsimmons-McLachlan-Gilbert syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome, Fast-Channel) AnnotationAssertion( "RDO:0012991"^^xsd:string) AnnotationAssertion( "MESH:C563832"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006988"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome, Fast-Channel"^^xsd:string) SubClassOf( ) # Class: (Osebold Skeletal Dysplasia Osteolysis Syndrome) AnnotationAssertion( "MIM:603389"^^xsd:string) AnnotationAssertion( "MESH:C566380"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006989"^^xsd:string) AnnotationAssertion(rdfs:label "Osebold Skeletal Dysplasia Osteolysis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deafness-Oligodontia Syndrome) AnnotationAssertion( "MIM:221740"^^xsd:string) AnnotationAssertion( "MESH:C538049"^^xsd:string) AnnotationAssertion( "Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia"^^xsd:string) AnnotationAssertion( "Congenital profound sensorineural deafness and oligodontia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006990"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness-Oligodontia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pelvic Lipomatosis with Crossed Renal Ectopia) AnnotationAssertion( "MIM:169545"^^xsd:string) AnnotationAssertion( "MESH:C566812"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006991"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Lipomatosis with Crossed Renal Ectopia"^^xsd:string) SubClassOf( ) # Class: (MORM Syndrome) AnnotationAssertion( "MIM:610156"^^xsd:string) AnnotationAssertion( "INPP5E-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C536984"^^xsd:string) AnnotationAssertion( "IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME"^^xsd:string) AnnotationAssertion( "MORMS"^^xsd:string) AnnotationAssertion( "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis"^^xsd:string) AnnotationAssertion( "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006992"^^xsd:string) AnnotationAssertion(rdfs:label "MORM Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN) AnnotationAssertion(Annotation( "MIM:617101"^^xsd:string) "This is a disease characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin."^^xsd:string) AnnotationAssertion( "MIM:617101"^^xsd:string) AnnotationAssertion( "RDO:9001620"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006994"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Faciomandibular Myoclonus, Nocturnal) AnnotationAssertion( "MIM:606840"^^xsd:string) AnnotationAssertion( "MESH:C536389"^^xsd:string) AnnotationAssertion( "Nocturnal facio-mandibular myoclonus"^^xsd:string) AnnotationAssertion( "PARASOMNIA, SLEEP BRUXISM TYPE"^^xsd:string) AnnotationAssertion( "PSMNSB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006995"^^xsd:string) AnnotationAssertion(rdfs:label "Faciomandibular Myoclonus, Nocturnal"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa 79) AnnotationAssertion( "MIM:617460"^^xsd:string) AnnotationAssertion( "RP79"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006996"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 79"^^xsd:string) SubClassOf( ) # Class: (Dilated Cardiomyopathy 1OO) AnnotationAssertion(Annotation( "MIM:620247"^^xsd:string) "A disease characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Caused by heterozygous mutation in the VEZF1 gene on chromosome 17q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-16T15:28:27Z"^^xsd:string) AnnotationAssertion( "MIM:620247"^^xsd:string) AnnotationAssertion( "CMD1OO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006997"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 1OO"^^xsd:string) SubClassOf( ) # Class: (Cystic Disease of Lung) AnnotationAssertion( "MIM:219600"^^xsd:string) AnnotationAssertion( "MESH:C563237"^^xsd:string) AnnotationAssertion( "PCLUD"^^xsd:string) AnnotationAssertion( "polycystic lung disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006998"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Disease of Lung"^^xsd:string) SubClassOf( ) # Class: (Synesthesia) AnnotationAssertion( "The experience of involuntary sensory cross activation where the presentation of a particular stimulus elicits a secondary sensory-perceptual experience. It most commonly occurs in the association of color with linguistic stimuli such as letters, numbers, words, or music, but can also occur between other senses. Although synesthesia can be acquired or transient due to trauma or drug use, there is also a strong genetic component, with a prevalence of about 1 in 2,000 individuals and a female to male ratio of 6:1. (MESH)"^^xsd:string) AnnotationAssertion( "MIM:612759"^^xsd:string) AnnotationAssertion( "MESH:D000080311"^^xsd:string) AnnotationAssertion( "Chromesthesia"^^xsd:string) AnnotationAssertion( "Colored Hearing Synesthesia"^^xsd:string) AnnotationAssertion( "Grapheme-Color Synesthesia"^^xsd:string) AnnotationAssertion( "Ideaesthesia"^^xsd:string) AnnotationAssertion( "Ideasthesia"^^xsd:string) AnnotationAssertion( "Lexical-Gustatory Synesthesia"^^xsd:string) AnnotationAssertion( "SYNSTH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9006999"^^xsd:string) AnnotationAssertion(rdfs:label "Synesthesia"^^xsd:string) SubClassOf( ) # Class: (sudden infant death syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome"^^xsd:string) Annotation( "http://omim.org/entry/272120"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html"^^xsd:string) "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. (DO)"^^xsd:string) AnnotationAssertion( "MIM:272120"^^xsd:string) AnnotationAssertion( "EFO:0005303"^^xsd:string) AnnotationAssertion( "GARD:7711"^^xsd:string) AnnotationAssertion( "ICD9CM:798.0"^^xsd:string) AnnotationAssertion( "MESH:D013398"^^xsd:string) AnnotationAssertion( "NCI:C85173"^^xsd:string) AnnotationAssertion( "SID"^^xsd:string) AnnotationAssertion( "SIDS"^^xsd:string) AnnotationAssertion( "cot death"^^xsd:string) AnnotationAssertion( "cot deaths"^^xsd:string) AnnotationAssertion( "crib death"^^xsd:string) AnnotationAssertion( "sudden death of nonspecific cause in infancy"^^xsd:string) AnnotationAssertion( "sudden infant death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007"^^xsd:string) AnnotationAssertion(rdfs:label "sudden infant death syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cleft Palate, Deafness, and Oligodontia) AnnotationAssertion( "MIM:216300"^^xsd:string) AnnotationAssertion( "MESH:C565844"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007000"^^xsd:string) AnnotationAssertion(rdfs:label "Cleft Palate, Deafness, and Oligodontia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bradycardia) AnnotationAssertion(Annotation( "MESH:D001919"^^xsd:string) "Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK."^^xsd:string) AnnotationAssertion( "MESH:D001919"^^xsd:string) AnnotationAssertion( "RDO:0005048"^^xsd:string) AnnotationAssertion( "Bradyarrhythmia"^^xsd:string) AnnotationAssertion( "Bradyarrhythmias"^^xsd:string) AnnotationAssertion( "Bradycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007001"^^xsd:string) AnnotationAssertion(rdfs:label "Bradycardia"^^xsd:string) SubClassOf( ) # Class: (Von Willebrand Disease, X-Linked Form) AnnotationAssertion( "MIM:314560"^^xsd:string) AnnotationAssertion( "MESH:C564041"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007002"^^xsd:string) AnnotationAssertion(rdfs:label "Von Willebrand Disease, X-Linked Form"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mediastinal Diseases) AnnotationAssertion(Annotation( "MESH:D008477"^^xsd:string) "Disorders of the mediastinum, general or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D008477"^^xsd:string) AnnotationAssertion( "RDO:0002192"^^xsd:string) AnnotationAssertion( "Mediastinal Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007003"^^xsd:string) AnnotationAssertion(rdfs:label "Mediastinal Diseases"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Branchiogenic-Deafness Syndrome) AnnotationAssertion( "MIM:609166"^^xsd:string) AnnotationAssertion( "MESH:C563780"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007005"^^xsd:string) AnnotationAssertion(rdfs:label "Branchiogenic-Deafness Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Maple Syrup Urine Disease, Type 1B) AnnotationAssertion( "MIM:620698"^^xsd:string) AnnotationAssertion( "MESH:C535711"^^xsd:string) AnnotationAssertion( "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB"^^xsd:string) AnnotationAssertion( "MSUD1B"^^xsd:string) AnnotationAssertion( "Maple Syrup Urine Disease, Type IB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007006"^^xsd:string) AnnotationAssertion(rdfs:label "Maple Syrup Urine Disease, Type 1B"^^xsd:string) SubClassOf( ) # Class: (Succinate-Coa Ligase Deficiency) AnnotationAssertion( "MESH:C580473"^^xsd:string) AnnotationAssertion( "RDO:0015933"^^xsd:string) AnnotationAssertion( "Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria"^^xsd:string) AnnotationAssertion( "Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria"^^xsd:string) AnnotationAssertion( "Succinate-Coenzyme A Ligase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007007"^^xsd:string) AnnotationAssertion(rdfs:label "Succinate-Coa Ligase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation) AnnotationAssertion( "MIM:226440"^^xsd:string) AnnotationAssertion( "MESH:C535492"^^xsd:string) AnnotationAssertion( "Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007008"^^xsd:string) AnnotationAssertion(rdfs:label "Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Neoplasms) AnnotationAssertion(Annotation( "MESH:D005153"^^xsd:string) "New abnormal growth of tissue in the FACE."^^xsd:string) AnnotationAssertion( "MESH:D005153"^^xsd:string) AnnotationAssertion( "RDO:0004080"^^xsd:string) AnnotationAssertion( "Facial Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007009"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Demyelinating Autoimmune Diseases, CNS) AnnotationAssertion(Annotation( "MESH:D020278"^^xsd:string) "Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens."^^xsd:string) AnnotationAssertion( "RDO:0005168"^^xsd:string) AnnotationAssertion( "EFO:1000870"^^xsd:string) AnnotationAssertion( "MESH:D020278"^^xsd:string) AnnotationAssertion( "Autoimmune Demyelinating Diseases, Cerebral"^^xsd:string) AnnotationAssertion( "Brain Autoimmune Demyelinating Diseases"^^xsd:string) AnnotationAssertion( "CNS Autoimmune Demyelinating Disorders"^^xsd:string) AnnotationAssertion( "Demyelinating Disease, Autoimmune, CNS"^^xsd:string) AnnotationAssertion( "autoimmune demyelinating diseases, central nervous system"^^xsd:string) AnnotationAssertion( "spinal cord demyelinating autoimmune diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007010"^^xsd:string) AnnotationAssertion(rdfs:label "Demyelinating Autoimmune Diseases, CNS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 123) AnnotationAssertion(Annotation( "MIM:620745"^^xsd:string) "A disease characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life. Caused by homozygous mutation in the STX4 gene on chromosome 16p11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T12:21:24Z"^^xsd:string) AnnotationAssertion( "MIM:620745"^^xsd:string) AnnotationAssertion( "DFNB123"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007011"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 123"^^xsd:string) SubClassOf( ) # Class: (THAUVIN-ROBINET-FAIVRE SYNDROME) AnnotationAssertion( "An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617107"^^xsd:string) AnnotationAssertion( "RDO:9001588"^^xsd:string) AnnotationAssertion( "TROFAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007012"^^xsd:string) AnnotationAssertion(rdfs:label "THAUVIN-ROBINET-FAIVRE SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (BCG Infection, Generalized Familial Semibenign, Autosomal Dominant) AnnotationAssertion( "MESH:C565909"^^xsd:string) AnnotationAssertion( "RDO:0014423"^^xsd:string) AnnotationAssertion( "BCG INFECTION, GENERALIZED FAMILIAL SEMIBENIGN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007014"^^xsd:string) AnnotationAssertion(rdfs:label "BCG Infection, Generalized Familial Semibenign, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Cleidorhizomelic Syndrome) AnnotationAssertion( "MIM:119650"^^xsd:string) AnnotationAssertion( "MESH:C536428"^^xsd:string) AnnotationAssertion( "Wallis Zieff Goldblatt syndrome"^^xsd:string) AnnotationAssertion( "cleido rhizomelic syndrome"^^xsd:string) AnnotationAssertion( "rhizomelic shortness with clavicular defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007015"^^xsd:string) AnnotationAssertion(rdfs:label "Cleidorhizomelic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tetralogy of Fallot Syndrome, Autosomal Recessive) AnnotationAssertion( "MIM:605618"^^xsd:string) AnnotationAssertion( "MESH:C565314"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007016"^^xsd:string) AnnotationAssertion(rdfs:label "Tetralogy of Fallot Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Fibroepithelial Neoplasms) AnnotationAssertion(Annotation( "MESH:D018225"^^xsd:string) "Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium."^^xsd:string) AnnotationAssertion( "EFO:0007271"^^xsd:string) AnnotationAssertion( "MESH:D018225"^^xsd:string) AnnotationAssertion( "Fibroepithelial Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007017"^^xsd:string) AnnotationAssertion(rdfs:label "Fibroepithelial Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pneumocystis Infections) AnnotationAssertion(Annotation( "MESH:D016720"^^xsd:string) "Infections with species in the genus PNEUMOCYSTIS, a fungus causing interstitial plasma cell pneumonia (PNEUMONIA, PNEUMOCYSTIS) and other infections in humans and other MAMMALS. Immunocompromised patients, especially those with AIDS, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally."^^xsd:string) AnnotationAssertion( "EFO:0007447"^^xsd:string) AnnotationAssertion( "MESH:D016720"^^xsd:string) AnnotationAssertion( "RDO:0006375"^^xsd:string) AnnotationAssertion( "Pneumocystis Infection"^^xsd:string) AnnotationAssertion( "Pneumocystis carinii Infection"^^xsd:string) AnnotationAssertion( "Pneumocystis carinii Infections"^^xsd:string) AnnotationAssertion( "Pneumocystis infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007019"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumocystis Infections"^^xsd:string) SubClassOf( ) # Class: (Mollica-Pavone-Antener Syndrome) AnnotationAssertion( "MESH:C535809"^^xsd:string) AnnotationAssertion( "MIM:223540"^^xsd:string) AnnotationAssertion( "MONDO:0009128"^^xsd:string) AnnotationAssertion( "ORDO:2650"^^xsd:string) AnnotationAssertion( "Mollica syndrome"^^xsd:string) AnnotationAssertion( "dwarfism, intellectual disability, and eye abnormality"^^xsd:string) AnnotationAssertion( "dwarfism, mental retardation, and eye abnormality"^^xsd:string) AnnotationAssertion( "short stature, mental retardation and ocular alterations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007020"^^xsd:string) AnnotationAssertion(rdfs:label "Mollica-Pavone-Antener Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bordetella Infections) AnnotationAssertion(Annotation( "MESH:D001885"^^xsd:string) "Infections with bacteria of the genus BORDETELLA."^^xsd:string) AnnotationAssertion( "EFO:1001275"^^xsd:string) AnnotationAssertion( "MESH:D001885"^^xsd:string) AnnotationAssertion( "Bordetella Infectious disease"^^xsd:string) AnnotationAssertion( "bordetella infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007021"^^xsd:string) AnnotationAssertion(rdfs:label "Bordetella Infections"^^xsd:string) SubClassOf( ) # Class: (Pfeiffer Palm Teller Syndrome) AnnotationAssertion( "MIM:261560"^^xsd:string) AnnotationAssertion( "MESH:C537889"^^xsd:string) AnnotationAssertion( "PPT SYNDROME"^^xsd:string) AnnotationAssertion( "SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007022"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer Palm Teller Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prenatal Injuries) AnnotationAssertion(Annotation( "MESH:D049188"^^xsd:string) "Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical."^^xsd:string) AnnotationAssertion( "MESH:D049188"^^xsd:string) AnnotationAssertion( "RDO:0006411"^^xsd:string) AnnotationAssertion( "Prenatal Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007023"^^xsd:string) AnnotationAssertion(rdfs:label "Prenatal Injuries"^^xsd:string) SubClassOf( ) # Class: (Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine) AnnotationAssertion( "MIM:162600"^^xsd:string) AnnotationAssertion( "MESH:C563516"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007024"^^xsd:string) AnnotationAssertion(rdfs:label "Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine"^^xsd:string) SubClassOf( ) # Class: (Keratouveitis) AnnotationAssertion( "Inflammation of part or all of the uvea and of the cornea."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007025"^^xsd:string) AnnotationAssertion(rdfs:label "Keratouveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlysinemia due to Defect in Lysine Transport into Mitochondria) AnnotationAssertion( "MIM:238710"^^xsd:string) AnnotationAssertion( "MESH:C565499"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007027"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlysinemia due to Defect in Lysine Transport into Mitochondria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Episodic Muscle Weakness, X-Linked) AnnotationAssertion( "MIM:300211"^^xsd:string) AnnotationAssertion( "MESH:C564565"^^xsd:string) AnnotationAssertion( "RDO:0013485"^^xsd:string) AnnotationAssertion( "EMWX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007028"^^xsd:string) AnnotationAssertion(rdfs:label "Episodic Muscle Weakness, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Endocardial Fibroelastosis and Coarctation of Abdominal Aorta) AnnotationAssertion( "MIM:226100"^^xsd:string) AnnotationAssertion( "MESH:C565592"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007030"^^xsd:string) AnnotationAssertion(rdfs:label "Endocardial Fibroelastosis and Coarctation of Abdominal Aorta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Uveal Neoplasms) AnnotationAssertion( "Tumors or cancer of the UVEA."^^xsd:string) AnnotationAssertion( "MESH:D014604"^^xsd:string) AnnotationAssertion( "NCI:C3436"^^xsd:string) AnnotationAssertion( "uveal neoplasm"^^xsd:string) AnnotationAssertion( "uveal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007031"^^xsd:string) AnnotationAssertion(rdfs:label "Uveal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neonatal Ovarian Cyst) AnnotationAssertion( "MESH:C536396"^^xsd:string) AnnotationAssertion( "Fetal ovarian cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007032"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Ovarian Cyst"^^xsd:string) SubClassOf( ) # Class: (Ventricular Premature Complexes) AnnotationAssertion(Annotation( "MESH:D018879"^^xsd:string) "A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases."^^xsd:string) AnnotationAssertion( "EFO:0009276"^^xsd:string) AnnotationAssertion( "MESH:D018879"^^xsd:string) AnnotationAssertion( "PVC"^^xsd:string) AnnotationAssertion( "Premature Ventricular Beat"^^xsd:string) AnnotationAssertion( "Premature Ventricular Beats"^^xsd:string) AnnotationAssertion( "Premature Ventricular Complex"^^xsd:string) AnnotationAssertion( "Premature Ventricular Contraction"^^xsd:string) AnnotationAssertion( "Premature Ventricular Contractions"^^xsd:string) AnnotationAssertion( "VPC"^^xsd:string) AnnotationAssertion( "Ventricular Ectopic Beat"^^xsd:string) AnnotationAssertion( "Ventricular Ectopic Beats"^^xsd:string) AnnotationAssertion( "Ventricular Extrasystole"^^xsd:string) AnnotationAssertion( "Ventricular Extrasystoles"^^xsd:string) AnnotationAssertion( "ventricular ectopy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007033"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Premature Complexes"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Portal Vein Obstruction) AnnotationAssertion( "Obstruction of the portal vein by a blood clot (THROMBUS) or malignant obstruction."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "Hepatic portal vein obstruction"^^xsd:string) AnnotationAssertion( "Occlusion of hepatic portal vein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007037"^^xsd:string) AnnotationAssertion(rdfs:label "Portal Vein Obstruction"^^xsd:string) SubClassOf( ) # Class: (Acquired Agranulocytosis) AnnotationAssertion( "MESH:C538171"^^xsd:string) AnnotationAssertion( "RDO:0004110"^^xsd:string) AnnotationAssertion( "Agranulocytic Angina"^^xsd:string) AnnotationAssertion( "Granulocytopenia, Primary"^^xsd:string) AnnotationAssertion( "Neutropenia, Malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007038"^^xsd:string) AnnotationAssertion(rdfs:label "Acquired Agranulocytosis"^^xsd:string) SubClassOf( ) # Class: (Ventricular Dysfunction) AnnotationAssertion(Annotation( "MESH:D018754"^^xsd:string) "A condition in which HEART VENTRICLES exhibit impaired function."^^xsd:string) AnnotationAssertion( "MESH:D018754"^^xsd:string) AnnotationAssertion( "RDO:0007211"^^xsd:string) AnnotationAssertion( "Ventricular Dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007039"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Foot-and-Mouth Disease) AnnotationAssertion(Annotation( "MESH:D005536"^^xsd:string) "A highly infectious disease caused by FOOT AND MOUTH DISEASE VIRUS that affects mammals of the ARTIODACTYLA order (CATTLE; SHEEP; GOATS; and PIGS) and is characterized by high fever followed by the appearance of blisters inside the mouth and on the feet."^^xsd:string) AnnotationAssertion( "EFO:0007277"^^xsd:string) AnnotationAssertion( "MESH:D005536"^^xsd:string) AnnotationAssertion( "Foot-and-Mouth Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007040"^^xsd:string) AnnotationAssertion(rdfs:label "Foot-and-Mouth Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Actinobacillus Infections) AnnotationAssertion(Annotation( "MESH:D000189"^^xsd:string) "Infections with bacteria of the genus ACTINOBACILLUS."^^xsd:string) AnnotationAssertion( "RDO:0004724"^^xsd:string) AnnotationAssertion( "EFO:1000793"^^xsd:string) AnnotationAssertion( "MESH:D000189"^^xsd:string) AnnotationAssertion( "Actinobacillus Infection"^^xsd:string) AnnotationAssertion( "Actinobacillus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007041"^^xsd:string) AnnotationAssertion(rdfs:label "Actinobacillus Infections"^^xsd:string) SubClassOf( ) # Class: (syndromic X-linked intellectual disability 33) AnnotationAssertion( "TAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:300966"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33"^^xsd:string) AnnotationAssertion( "MRXS33"^^xsd:string) AnnotationAssertion( "Syndromic X-Linked Mental Retardation 33"^^xsd:string) AnnotationAssertion( "TAF1-RELATED SYNDROMIC INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "syndromic X-linked intellectual developmental disorder 33"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007042"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual disability 33"^^xsd:string) SubClassOf( ) # Class: (Dermatoleukodystrophy) AnnotationAssertion( "MIM:221790"^^xsd:string) AnnotationAssertion( "MESH:C538220"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007043"^^xsd:string) AnnotationAssertion(rdfs:label "Dermatoleukodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Florid Cemento-Osseous Dysplasia) AnnotationAssertion( "MESH:C537063"^^xsd:string) AnnotationAssertion( "RDO:0002826"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007044"^^xsd:string) AnnotationAssertion(rdfs:label "Florid Cemento-Osseous Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cranioacrofacial Syndrome) AnnotationAssertion( "MIM:122850"^^xsd:string) AnnotationAssertion( "MESH:C565147"^^xsd:string) AnnotationAssertion( "MONDO:0007393"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007046"^^xsd:string) AnnotationAssertion(rdfs:label "Cranioacrofacial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Infectious Bone Diseases) AnnotationAssertion(Annotation( "MESH:D001850"^^xsd:string) "Bone diseases caused by pathogenic microorganisms."^^xsd:string) AnnotationAssertion( "MESH:D001850"^^xsd:string) AnnotationAssertion( "Infectious Bone Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007047"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Bone Diseases"^^xsd:string) SubClassOf( ) # Class: (Schmid-Fraccaro Syndrome) AnnotationAssertion( "MIM:115470"^^xsd:string) AnnotationAssertion( "MESH:C535918"^^xsd:string) AnnotationAssertion( "NCI:C75477"^^xsd:string) AnnotationAssertion( "CES"^^xsd:string) AnnotationAssertion( "Cat Eye syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 22 partial tetrasomy"^^xsd:string) AnnotationAssertion( "INV DUP(22)(Q11)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007048"^^xsd:string) AnnotationAssertion(rdfs:label "Schmid-Fraccaro Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bone Marrow Failure Syndrome 2) AnnotationAssertion( "MIM:615715"^^xsd:string) AnnotationAssertion( "BMFS2"^^xsd:string) AnnotationAssertion( "ERCC6L2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007049"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Bluetongue) AnnotationAssertion(Annotation( "MESH:D001819"^^xsd:string) "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet."^^xsd:string) AnnotationAssertion( "MESH:D001819"^^xsd:string) AnnotationAssertion( "Blue Tongue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007050"^^xsd:string) AnnotationAssertion(rdfs:label "Bluetongue"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Tubulointerstitial Kidney Disease 1) AnnotationAssertion( "This disease is an adult-onset, slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported."^^xsd:string) AnnotationAssertion( "MESH:C548033"^^xsd:string) AnnotationAssertion( "MESH:C563693"^^xsd:string) AnnotationAssertion( "MIM:162000"^^xsd:string) AnnotationAssertion( "EFO:0008618"^^xsd:string) AnnotationAssertion( "MESH:C537696"^^xsd:string) AnnotationAssertion( "ADMCKD2"^^xsd:string) AnnotationAssertion( "ADTKD1"^^xsd:string) AnnotationAssertion( "Familial Gouty Nephropathy"^^xsd:string) AnnotationAssertion( "Familial Juvenile Hyperuricemic Nephropathy 1"^^xsd:string) AnnotationAssertion( "GOUTY NEPHROPATHY, FAMILIAL JUVENILE"^^xsd:string) AnnotationAssertion( "Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria"^^xsd:string) AnnotationAssertion( "HNFJ1"^^xsd:string) AnnotationAssertion( "Hyperuricemic Nephropathy, Familial Juvenile 1"^^xsd:string) AnnotationAssertion( "Juvenile Gout"^^xsd:string) AnnotationAssertion( "MCKD2"^^xsd:string) AnnotationAssertion( "Medullary Cystic Kidney Disease 2"^^xsd:string) AnnotationAssertion( "Medullary Cystic Kidney Disease Type II"^^xsd:string) AnnotationAssertion( "UMOD-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UMOD-associated kidney disease"^^xsd:string) AnnotationAssertion( "UMOD-related kidney disease"^^xsd:string) AnnotationAssertion( "familial gout-kidney disease"^^xsd:string) AnnotationAssertion( "familial nephropathy with gout"^^xsd:string) AnnotationAssertion( "medullary cystic kidney disease 2, autosomal dominant"^^xsd:string) AnnotationAssertion( "uromodulin storage disease"^^xsd:string) AnnotationAssertion( "uromodulin-associated kidney disease"^^xsd:string) AnnotationAssertion( "FAMILIAL JUVENILE GOUT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007051"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Tubulointerstitial Kidney Disease 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay) AnnotationAssertion( "MIM:613076"^^xsd:string) AnnotationAssertion( "MESH:C567769"^^xsd:string) AnnotationAssertion( "MPMCD"^^xsd:string) AnnotationAssertion( "combined mitochondrial complex deficiency"^^xsd:string) AnnotationAssertion( "mitochondrial progressive myopathy with congenital cataract and developmental delay"^^xsd:string) AnnotationAssertion( "myopathy with cataract and combined respiratory chain deficiency"^^xsd:string) AnnotationAssertion( "progressive axial myopathy with cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007052"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ventricular Septal Defect 2) AnnotationAssertion( "MIM:614431"^^xsd:string) AnnotationAssertion( "RDO:9000852"^^xsd:string) AnnotationAssertion( "VSD2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007054"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Septal Defect 2"^^xsd:string) SubClassOf( ) # Class: (Central Areolar Choroidal Dystrophy 3) AnnotationAssertion( "MIM:613144"^^xsd:string) AnnotationAssertion( "MESH:C567729"^^xsd:string) AnnotationAssertion( "CACD3"^^xsd:string) AnnotationAssertion( "central areolar choroidal dystrophy with or without drusen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007055"^^xsd:string) AnnotationAssertion(rdfs:label "Central Areolar Choroidal Dystrophy 3"^^xsd:string) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIy) AnnotationAssertion(Annotation( "MIM:620200"^^xsd:string) "An autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Caused by compound heterozygous mutations in the GET4 gene on chromosome 7p22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-20T08:17:04Z"^^xsd:string) AnnotationAssertion( "MIM:620200"^^xsd:string) AnnotationAssertion( "CDG IIy"^^xsd:string) AnnotationAssertion( "CDG2Y"^^xsd:string) AnnotationAssertion( "CDGIIY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007056"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIy"^^xsd:string) SubClassOf( ) # Class: (Subacute Necrotizing Encephalomyelopathy of Leigh, Adult) AnnotationAssertion( "MIM:161700"^^xsd:string) AnnotationAssertion( "MESH:C563530"^^xsd:string) AnnotationAssertion( "Leigh Syndrome, Adult"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007057"^^xsd:string) AnnotationAssertion(rdfs:label "Subacute Necrotizing Encephalomyelopathy of Leigh, Adult"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primitive Peripheral Neuroectodermal Tumors) AnnotationAssertion(Annotation( "MESH:D018241"^^xsd:string) "A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA."^^xsd:string) AnnotationAssertion( "MESH:D018241"^^xsd:string) AnnotationAssertion( "MONDO:0018271"^^xsd:string) AnnotationAssertion( "(pPNET) peripheral primitive neuroectodermal tumors"^^xsd:string) AnnotationAssertion( "Extracranial Primitive Neuroectodermal Tumor"^^xsd:string) AnnotationAssertion( "Peripheral Neuroectodermal Tumor"^^xsd:string) AnnotationAssertion( "Peripheral Neuroepithelioma"^^xsd:string) AnnotationAssertion( "Peripheral Neuroepitheliomas"^^xsd:string) AnnotationAssertion( "peripheral neuroectodermal tumors"^^xsd:string) AnnotationAssertion( "peripheral primitive neuroectodermal neoplasm"^^xsd:string) AnnotationAssertion( "primitive peripheral neuroectodermal tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007058"^^xsd:string) AnnotationAssertion(rdfs:label "Primitive Peripheral Neuroectodermal Tumors"^^xsd:string) SubClassOf( ) # Class: (Thyroid Hormone Plasma Membrane Transport Defect) AnnotationAssertion( "MIM:188560"^^xsd:string) AnnotationAssertion( "MESH:C536916"^^xsd:string) AnnotationAssertion( "eumetabolic hyperthyroxinemia due to T4 plasma membrane transport"^^xsd:string) AnnotationAssertion( "thyroid hormone resistance due to T4 plasma membrane transport defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007059"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Hormone Plasma Membrane Transport Defect"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Glycosylphosphatidylinositol Biosynthesis Defect 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-05-30T15:48:05Z"^^xsd:string) AnnotationAssertion( "MIM:610293"^^xsd:string) AnnotationAssertion( "GPIBD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007061"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Biosynthesis Defect 1"^^xsd:string) SubClassOf( ) # Class: (Rare Diseases) AnnotationAssertion(Annotation( "MESH:D035583"^^xsd:string) "A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment."^^xsd:string) AnnotationAssertion( "MESH:D035583"^^xsd:string) AnnotationAssertion( "Orphan Disease"^^xsd:string) AnnotationAssertion( "Orphan Diseases"^^xsd:string) AnnotationAssertion( "Rare Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007062"^^xsd:string) AnnotationAssertion(rdfs:label "Rare Diseases"^^xsd:string) SubClassOf( ) # Class: (Myoclonic Epilepsy, Familial Infantile) AnnotationAssertion( "MIM:605021"^^xsd:string) AnnotationAssertion( "RDO:0008964"^^xsd:string) AnnotationAssertion( "EIM"^^xsd:string) AnnotationAssertion( "FIME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007063"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsy, Familial Infantile"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type) AnnotationAssertion( "MIM:608728"^^xsd:string) AnnotationAssertion( "MESH:C563869"^^xsd:string) AnnotationAssertion( "SEMD, MATN3-related"^^xsd:string) AnnotationAssertion( "SEMDBCD"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia, MATN3-related"^^xsd:string) AnnotationAssertion( "spondyloepimetaphyseal dysplasia, matrilin-3 related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007064"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type"^^xsd:string) SubClassOf( ) # Class: (Myopia 11) AnnotationAssertion( "MIM:609994"^^xsd:string) AnnotationAssertion( "MESH:C566490"^^xsd:string) AnnotationAssertion( "MYOPIA 11, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007065"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 11"^^xsd:string) SubClassOf( ) # Class: (Fibrous Hamartoma of Infancy) AnnotationAssertion(Annotation( "EFO:1000257"^^xsd:string) Annotation( "HP:0100882"^^xsd:string) "This is a rare, benign soft tissue tumor that typically occurs within the first two years of life. It is a poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-01T14:18:55Z"^^xsd:string) AnnotationAssertion( "EFO:1000257"^^xsd:string) AnnotationAssertion( "HP:0100882"^^xsd:string) AnnotationAssertion( "fibrous hamartoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007066"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrous Hamartoma of Infancy"^^xsd:string) SubClassOf( ) # Class: (Mesenteric Cyst) AnnotationAssertion(Annotation( "MESH:D008639"^^xsd:string) "A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions."^^xsd:string) AnnotationAssertion( "MESH:D008639"^^xsd:string) AnnotationAssertion( "Mesenteric Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007067"^^xsd:string) AnnotationAssertion(rdfs:label "Mesenteric Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Partial Lipodystrophy Type 8) AnnotationAssertion(Annotation( "MIM:620679"^^xsd:string) "An autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Caused by heterozygous mutation in the ADRA2A gene on chromosome 10q25."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:52:09Z"^^xsd:string) AnnotationAssertion( "MIM:620679"^^xsd:string) AnnotationAssertion( "FPLD8"^^xsd:string) AnnotationAssertion( "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007068"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Partial Lipodystrophy Type 8"^^xsd:string) SubClassOf( ) # Class: (Hyperphosphatemic Familial Tumoral Calcinosis 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-02T09:08:48Z"^^xsd:string) AnnotationAssertion( "EFO:0009383"^^xsd:string) AnnotationAssertion( "MIM:617993"^^xsd:string) AnnotationAssertion( "HFTC2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007069"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphosphatemic Familial Tumoral Calcinosis 2"^^xsd:string) SubClassOf( ) # Class: (Silver-Russell Syndrome 1) AnnotationAssertion(Annotation( "MIM:180860"^^xsd:string) "Clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T13:32:37Z"^^xsd:string) AnnotationAssertion( "MIM:180860"^^xsd:string) AnnotationAssertion( "SRS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007070"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Hereditary Neoplastic Syndromes) AnnotationAssertion(Annotation( "MESH:D009386"^^xsd:string) "The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance."^^xsd:string) AnnotationAssertion( "MESH:D009386"^^xsd:string) AnnotationAssertion( "HEREDITARY CANCER-PREDISPOSING SYNDROME"^^xsd:string) AnnotationAssertion( "Hereditary Cancer Syndrome"^^xsd:string) AnnotationAssertion( "hereditary cancer"^^xsd:string) AnnotationAssertion( "hereditary cancer syndromes"^^xsd:string) AnnotationAssertion( "hereditary neoplastic syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007071"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Neoplastic Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Social Communication Disorder) AnnotationAssertion(Annotation( "MESH:D000067404"^^xsd:string) "Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)"^^xsd:string) AnnotationAssertion( "MESH:D000067404"^^xsd:string) AnnotationAssertion( "RDO:0016027"^^xsd:string) AnnotationAssertion( "Pragmatic Communication Disorder"^^xsd:string) AnnotationAssertion( "Pragmatic Communication Disorders"^^xsd:string) AnnotationAssertion( "Social Communication Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007072"^^xsd:string) AnnotationAssertion(rdfs:label "Social Communication Disorder"^^xsd:string) SubClassOf( ) # Class: (Cough) AnnotationAssertion(Annotation( "MESH:D003371"^^xsd:string) "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs."^^xsd:string) AnnotationAssertion( "MESH:D003371"^^xsd:string) AnnotationAssertion( "Coughs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007073"^^xsd:string) AnnotationAssertion(rdfs:label "Cough"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Camptodactyly-Ichthyosis Syndrome) AnnotationAssertion( "MIM:211965"^^xsd:string) AnnotationAssertion( "MESH:C537976"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007074"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly-Ichthyosis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Prothrombin Deficiency) AnnotationAssertion( "n extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein."^^xsd:string) AnnotationAssertion( "MIM:613679"^^xsd:string) AnnotationAssertion( "HEREDITARY FACTOR II DEFICIENCY DISEASE"^^xsd:string) AnnotationAssertion( "HYPOPROTHROMBINEMIA"^^xsd:string) AnnotationAssertion( "PROTHROMBIN DEFICIENCY, CONGENITAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DYSPROTHROMBINEMIA"^^xsd:string) AnnotationAssertion( "PROLONGED PROTHROMBIN TIME"^^xsd:string) AnnotationAssertion( "DOID:9007075"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Prothrombin Deficiency"^^xsd:string) SubClassOf( ) # Class: (Alopecia Congenita Keratosis Palmoplantaris) AnnotationAssertion( "MESH:C537050"^^xsd:string) AnnotationAssertion( "Alopecia Congenita With Keratosis Palmoplantaris"^^xsd:string) AnnotationAssertion( "Alopecia congenita with hyperkeratosis of the palms and soles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007076"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Congenita Keratosis Palmoplantaris"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Actin-Accumulation Myopathy) AnnotationAssertion( "MESH:C579880"^^xsd:string) AnnotationAssertion( "RDO:0015860"^^xsd:string) AnnotationAssertion( "Actin Filament Aggregate Myopathy"^^xsd:string) AnnotationAssertion( "Actin Myopathy"^^xsd:string) AnnotationAssertion( "Congenital Myopathy with Excess of Thin Filaments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007077"^^xsd:string) AnnotationAssertion(rdfs:label "Actin-Accumulation Myopathy"^^xsd:string) SubClassOf( ) # Class: (Hip Dislocation) AnnotationAssertion(Annotation( "MESH:D006617"^^xsd:string) "Displacement of the femur bone from its normal position at the HIP JOINT."^^xsd:string) AnnotationAssertion( "MESH:D006617"^^xsd:string) AnnotationAssertion( "RDO:0005805"^^xsd:string) AnnotationAssertion( "Hip Dislocations"^^xsd:string) AnnotationAssertion( "Hip Displacement"^^xsd:string) AnnotationAssertion( "Hip Displacements"^^xsd:string) AnnotationAssertion( "Hip Dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007078"^^xsd:string) AnnotationAssertion(rdfs:label "Hip Dislocation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY) AnnotationAssertion( "MESH:C564131"^^xsd:string) AnnotationAssertion( "MIM:614102"^^xsd:string) AnnotationAssertion( "RDO:0013191"^^xsd:string) AnnotationAssertion( "IGKCD"^^xsd:string) AnnotationAssertion( "KAPPA CHAIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007079"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 6) AnnotationAssertion( "MIM:609558"^^xsd:string) AnnotationAssertion( "MESH:C563699"^^xsd:string) AnnotationAssertion( "HPC6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007080"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 6"^^xsd:string) SubClassOf( ) # Class: (Cluster Headache) AnnotationAssertion(Annotation( "MESH:D003027"^^xsd:string) "A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"^^xsd:string) AnnotationAssertion( "MESH:D003027"^^xsd:string) AnnotationAssertion( "NCI:C17077"^^xsd:string) AnnotationAssertion( "ORDO:1002"^^xsd:string) AnnotationAssertion( "Atypical Cluster Headache"^^xsd:string) AnnotationAssertion( "Atypical Cluster Headaches"^^xsd:string) AnnotationAssertion( "Chronic Cluster Headache"^^xsd:string) AnnotationAssertion( "Chronic Cluster Headaches"^^xsd:string) AnnotationAssertion( "Ciliary Neuralgia"^^xsd:string) AnnotationAssertion( "Ciliary Neuralgias"^^xsd:string) AnnotationAssertion( "Cluster Headache Syndrome"^^xsd:string) AnnotationAssertion( "Cluster Headache Syndromes"^^xsd:string) AnnotationAssertion( "Cluster Headaches"^^xsd:string) AnnotationAssertion( "Episodic Cluster Headache"^^xsd:string) AnnotationAssertion( "Episodic Cluster Headaches"^^xsd:string) AnnotationAssertion( "Histamine Cephalgia"^^xsd:string) AnnotationAssertion( "Histamine Cephalgias"^^xsd:string) AnnotationAssertion( "Horton Syndrome"^^xsd:string) AnnotationAssertion( "Horton's Syndrome"^^xsd:string) AnnotationAssertion( "Hortons Syndrome"^^xsd:string) AnnotationAssertion( "Neuralgic Migraine"^^xsd:string) AnnotationAssertion( "Neuralgic Migraines"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007081"^^xsd:string) AnnotationAssertion(rdfs:label "Cluster Headache"^^xsd:string) SubClassOf( ) # Class: (Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma) AnnotationAssertion( "MIM:601952"^^xsd:string) AnnotationAssertion( "MESH:C566600"^^xsd:string) AnnotationAssertion( "KLICK"^^xsd:string) AnnotationAssertion( "KLICK Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007082"^^xsd:string) AnnotationAssertion(rdfs:label "Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Edentulous Mouth) AnnotationAssertion(Annotation( "MESH:D009066"^^xsd:string) "Total lack of teeth through disease or extraction."^^xsd:string) AnnotationAssertion( "MESH:D009066"^^xsd:string) AnnotationAssertion( "edentulous mouths"^^xsd:string) AnnotationAssertion( "toothless mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007083"^^xsd:string) AnnotationAssertion(rdfs:label "Edentulous Mouth"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities) AnnotationAssertion( "RDO:0015432"^^xsd:string) AnnotationAssertion( "MESH:C567328"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007084"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Monosomy 7 Myelodysplasia and Leukemia Syndrome 1) AnnotationAssertion( "MIM:252270"^^xsd:string) AnnotationAssertion( "MESH:C565370"^^xsd:string) AnnotationAssertion( "M7MLS1"^^xsd:string) AnnotationAssertion( "MLSM7"^^xsd:string) AnnotationAssertion( "chromosome 7q deletion"^^xsd:string) AnnotationAssertion( "monosomy 7 of bone marrow"^^xsd:string) AnnotationAssertion( "myelodysplasia and leukemia syndrome with monosomy 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007085"^^xsd:string) AnnotationAssertion(rdfs:label "Monosomy 7 Myelodysplasia and Leukemia Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Myoclonic Nystagmus) AnnotationAssertion( "MIM:310800"^^xsd:string) AnnotationAssertion( "MESH:C564088"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007086"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Nystagmus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Moyamoya Disease 6 with Achalasia) AnnotationAssertion( "MIM:615750"^^xsd:string) AnnotationAssertion( "MYMY6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007087"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 6 with Achalasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 3, Trisomy 3q13 2 q25) AnnotationAssertion( "MESH:C537634"^^xsd:string) AnnotationAssertion( "Duplication 3q13.2 q25"^^xsd:string) AnnotationAssertion( "Trisomy 3q13 2 q25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007088"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Trisomy 3q13 2 q25"^^xsd:string) SubClassOf( ) # Class: (Lethal Bone Dysplasia, Holmgren Type) AnnotationAssertion( "MIM:211120"^^xsd:string) AnnotationAssertion( "MESH:C565896"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007089"^^xsd:string) AnnotationAssertion(rdfs:label "Lethal Bone Dysplasia, Holmgren Type"^^xsd:string) SubClassOf( ) # Class: (Experimental Seizures) AnnotationAssertion( "Seizures that are induced in experimental animals, often initiated by the injection of a drug, such as kainic acid, pilocarpine, or pentetrazole."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "experimental epilepsy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007090"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Seizures"^^xsd:string) SubClassOf( ) # Class: (Lymphangiomyoma) AnnotationAssertion(Annotation( "MESH:D008203"^^xsd:string) "A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES."^^xsd:string) AnnotationAssertion( "EFO:1001027"^^xsd:string) AnnotationAssertion( "MESH:D008203"^^xsd:string) AnnotationAssertion( "RDO:0006039"^^xsd:string) AnnotationAssertion( "Lymphangioleiomyoma"^^xsd:string) AnnotationAssertion( "Lymphangioleiomyomas"^^xsd:string) AnnotationAssertion( "Lymphangiomyomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007091"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphangiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Preeyasombat Varavithya Syndrome) AnnotationAssertion( "MESH:C535269"^^xsd:string) AnnotationAssertion( "RDO:0000247"^^xsd:string) AnnotationAssertion( "Fanconi syndrome caused by degraded tetracycline"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007092"^^xsd:string) AnnotationAssertion(rdfs:label "Preeyasombat Varavithya Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Defect of Growth Factors) AnnotationAssertion( "MIM:233805"^^xsd:string) AnnotationAssertion( "MESH:C565529"^^xsd:string) AnnotationAssertion( "Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency"^^xsd:string) AnnotationAssertion( "Werner-Like Syndrome due to Combined Growth Factor Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007093"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Defect of Growth Factors"^^xsd:string) SubClassOf( ) # Class: (Hypercalcemia, Infantile, 1) AnnotationAssertion( "MIM:143880"^^xsd:string) AnnotationAssertion( "MESH:C562581"^^xsd:string) AnnotationAssertion( "CYP24A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HCINF1"^^xsd:string) AnnotationAssertion( "Idiopathic Hypercalcemia of Infancy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007094"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercalcemia, Infantile, 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pneumoperitoneum) AnnotationAssertion(Annotation( "MESH:D011027"^^xsd:string) "A condition with trapped gas or air in the PERITONEAL CAVITY, usually secondary to perforation of the internal organs such as the LUNG and the GASTROINTESTINAL TRACT, or to recent surgery. Pneumoperitoneum may be purposely introduced to aid radiological examination."^^xsd:string) AnnotationAssertion( "MESH:D011027"^^xsd:string) AnnotationAssertion( "RDO:0006383"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007095"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumoperitoneum"^^xsd:string) SubClassOf( ) # Class: (Stroke) AnnotationAssertion(Annotation( "MESH:D020521"^^xsd:string) "A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)"^^xsd:string) AnnotationAssertion( "MIM:606799"^^xsd:string) AnnotationAssertion( "EFO:0000712"^^xsd:string) AnnotationAssertion( "EFO:0009956"^^xsd:string) AnnotationAssertion( "EFO:1001504"^^xsd:string) AnnotationAssertion( "MESH:D020521"^^xsd:string) AnnotationAssertion( "Acute Cerebrovascular Accident"^^xsd:string) AnnotationAssertion( "Acute Cerebrovascular Accidents"^^xsd:string) AnnotationAssertion( "Acute Stroke"^^xsd:string) AnnotationAssertion( "Acute Strokes"^^xsd:string) AnnotationAssertion( "Apoplexy"^^xsd:string) AnnotationAssertion( "Brain Vascular Accident"^^xsd:string) AnnotationAssertion( "Brain Vascular Accidents"^^xsd:string) AnnotationAssertion( "CVA"^^xsd:string) AnnotationAssertion( "Cerebral Stroke"^^xsd:string) AnnotationAssertion( "Cerebral Strokes"^^xsd:string) AnnotationAssertion( "Cerebrovascular Accidents"^^xsd:string) AnnotationAssertion( "Cerebrovascular Apoplexy"^^xsd:string) AnnotationAssertion( "Cerebrovascular Stroke"^^xsd:string) AnnotationAssertion( "Cerebrovascular Strokes"^^xsd:string) AnnotationAssertion( "STRK1"^^xsd:string) AnnotationAssertion( "cerebrovascular accident"^^xsd:string) AnnotationAssertion( "strokes"^^xsd:string) AnnotationAssertion( "post-operative stroke"^^xsd:string) AnnotationAssertion( "small vessel stroke"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "stroke, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "DOID:9007096"^^xsd:string) AnnotationAssertion(rdfs:label "Stroke"^^xsd:string) SubClassOf( ) # Class: (Microcephaly with Simplified Gyral Pattern) AnnotationAssertion( "MIM:603802"^^xsd:string) AnnotationAssertion( "MESH:C566332"^^xsd:string) AnnotationAssertion( "SIMPLIFIED GYRAL PATTERN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007097"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Simplified Gyral Pattern"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Atresia) AnnotationAssertion(Annotation( "MESH:D018633"^^xsd:string) "A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS)."^^xsd:string) AnnotationAssertion( "MESH:D018633"^^xsd:string) AnnotationAssertion( "PULMONARY ARTERY ATRESIA"^^xsd:string) AnnotationAssertion( "Pulmonary Atresias"^^xsd:string) AnnotationAssertion( "Pulmonary Valve Atresia"^^xsd:string) AnnotationAssertion( "Pulmonary Valve Atresias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007098"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aplasia Cutis Congenita of Limbs Recessive) AnnotationAssertion( "MIM:600360"^^xsd:string) AnnotationAssertion( "MESH:C536840"^^xsd:string) AnnotationAssertion( "Congenital absence of skin on the upper or lower limbs"^^xsd:string) AnnotationAssertion( "Recessive aplasia cutis congenita of the limbs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007099"^^xsd:string) AnnotationAssertion(rdfs:label "Aplasia Cutis Congenita of Limbs Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ulnar Nerve Compression Syndromes) AnnotationAssertion(Annotation( "MESH:D017769"^^xsd:string) "Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)"^^xsd:string) AnnotationAssertion( "MESH:D017769"^^xsd:string) AnnotationAssertion( "Guyon Syndrome"^^xsd:string) AnnotationAssertion( "Guyon Syndromes"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Compression"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Compressions"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Entrapment"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Entrapment Syndrome"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Entrapment at the Wrist"^^xsd:string) AnnotationAssertion( "Ulnar Nerve Entrapments"^^xsd:string) AnnotationAssertion( "Ulnar Nerve External Compression Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007100"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar Nerve Compression Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Microphthalmia with Cataract 2) AnnotationAssertion( "MESH:C565876"^^xsd:string) AnnotationAssertion( "MCOPCT2"^^xsd:string) AnnotationAssertion( "microphthalmia and cataract 2"^^xsd:string) AnnotationAssertion( "microphthalmia, cataract, and nystagmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007101"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Cataract 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myocardial Ischemia) AnnotationAssertion(Annotation( "MESH:D017202"^^xsd:string) "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)."^^xsd:string) AnnotationAssertion( "EFO:1001375"^^xsd:string) AnnotationAssertion( "MESH:D017202"^^xsd:string) AnnotationAssertion( "Ischemic Heart Disease"^^xsd:string) AnnotationAssertion( "Ischemic Heart Diseases"^^xsd:string) AnnotationAssertion( "Myocardial Ischemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Ischemic heart disease, susceptibility to"^^xsd:string) AnnotationAssertion( "SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR"^^xsd:string) AnnotationAssertion( "DOID:9007102"^^xsd:string) AnnotationAssertion(rdfs:label "Myocardial Ischemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteolysis Syndrome, Recessive) AnnotationAssertion( "MIM:259610"^^xsd:string) AnnotationAssertion( "MESH:C536052"^^xsd:string) AnnotationAssertion( "distal osteolysis with short stature, mental retardation, and characteristic facial appearance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007103"^^xsd:string) AnnotationAssertion(rdfs:label "Osteolysis Syndrome, Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 14) AnnotationAssertion(Annotation( "MIM:620276"^^xsd:string) "A female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. Caused by homozygous or compound heterozygous mutation in the CDC20 gene on chromosome 1p34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-08T13:02:54Z"^^xsd:string) AnnotationAssertion( "MIM:620276"^^xsd:string) AnnotationAssertion( "OOMD14"^^xsd:string) AnnotationAssertion( "OZEMA14"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007104"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 14"^^xsd:string) SubClassOf( ) # Class: (Hyperemesis Gravidarum) AnnotationAssertion(Annotation( "MESH:D006939"^^xsd:string) "Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS."^^xsd:string) AnnotationAssertion( "MIM:620730"^^xsd:string) AnnotationAssertion( "EFO:1000971"^^xsd:string) AnnotationAssertion( "MESH:D006939"^^xsd:string) AnnotationAssertion( "Pernicious Vomiting of Pregnancy"^^xsd:string) AnnotationAssertion( "Pregnancy Pernicious Vomiting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Hyperemesis gravidarum, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9007105"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperemesis Gravidarum"^^xsd:string) SubClassOf( ) # Class: (Hereditary Neurocutaneous Angioma) AnnotationAssertion( "MIM:106070"^^xsd:string) AnnotationAssertion( "MESH:C536364"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007106"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Neurocutaneous Angioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Age-Related Nuclear) AnnotationAssertion( "MIM:601371"^^xsd:string) AnnotationAssertion( "RDO:0012620"^^xsd:string) AnnotationAssertion( "MESH:C563333"^^xsd:string) AnnotationAssertion( "Nuclear Sclerosis of the Lens"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007107"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Age-Related Nuclear"^^xsd:string) SubClassOf( ) # Class: (Congenital Agenesis of the Tricuspid Valve) AnnotationAssertion( "MESH:C531836"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007108"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Agenesis of the Tricuspid Valve"^^xsd:string) SubClassOf( ) # Class: (Rhegmatogenous Retinal Detachment, Autosomal Dominant) AnnotationAssertion(Annotation( "MESH:C563710"^^xsd:string) "This is a hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA"^^xsd:string) AnnotationAssertion( "rhegmatogenous retinal detachment"^^xsd:string) AnnotationAssertion( "EFO:0005240"^^xsd:string) AnnotationAssertion( "MESH:C563710"^^xsd:string) AnnotationAssertion( "DRRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007109"^^xsd:string) AnnotationAssertion(rdfs:label "Rhegmatogenous Retinal Detachment, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Subacute Combined Degeneration) AnnotationAssertion(Annotation( "MESH:D052879"^^xsd:string) "A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA."^^xsd:string) AnnotationAssertion( "EFO:1001428"^^xsd:string) AnnotationAssertion( "MESH:D052879"^^xsd:string) AnnotationAssertion( "Subacute Combined Neuropathy Degeneration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007110"^^xsd:string) AnnotationAssertion(rdfs:label "Subacute Combined Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Atypical Squamous Cells of the Cervix) AnnotationAssertion(Annotation( "MESH:D065309"^^xsd:string) "Morphological abnormalities of the cervical EPITHELIUM, usually revealed in PAP SMEAR, which do not meet the criteria for squamous CERVICAL INTRAEPITHELIAL NEOPLASIA or SQUAMOUS CELL CARCINOMAS of the CERVIX . It may be a sign of infection with certain types of human papillomavirus (HPV).or sign of a benign (not cancer) growth, such as a cyst or polyp or, in menopausal women, of low hormone levels. More testing, such as HPV test, may be needed."^^xsd:string) AnnotationAssertion( "MESH:D065309"^^xsd:string) AnnotationAssertion( "RDO:0015970"^^xsd:string) AnnotationAssertion( "ASC Atypical Squamous Cells"^^xsd:string) AnnotationAssertion( "ASC H Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra epithelial Lesion"^^xsd:string) AnnotationAssertion( "ASC-US"^^xsd:string) AnnotationAssertion( "ASCUS"^^xsd:string) AnnotationAssertion( "Atypical Cervical Squamous Cells"^^xsd:string) AnnotationAssertion( "Atypical Squamous Cell"^^xsd:string) AnnotationAssertion( "Atypical Squamous Cells"^^xsd:string) AnnotationAssertion( "Atypical Squamous Cells of Undetermined Significance"^^xsd:string) AnnotationAssertion( "Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra Epithelial Lesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007111"^^xsd:string) AnnotationAssertion(rdfs:label "Atypical Squamous Cells of the Cervix"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Teebi Naguib Al Awadi syndrome) AnnotationAssertion( "MESH:C536949"^^xsd:string) AnnotationAssertion( "RDO:0002678"^^xsd:string) AnnotationAssertion( "Al Awadi Teebi Farag syndrome"^^xsd:string) AnnotationAssertion( "Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007113"^^xsd:string) AnnotationAssertion(rdfs:label "Teebi Naguib Al Awadi syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mobility Limitation) AnnotationAssertion(Annotation( "MESH:D051346"^^xsd:string) "Difficulty in walking from place to place."^^xsd:string) AnnotationAssertion( "MESH:D051346"^^xsd:string) AnnotationAssertion( "Ambulation Difficulties"^^xsd:string) AnnotationAssertion( "Ambulation Difficulty"^^xsd:string) AnnotationAssertion( "Ambulatory Difficulties"^^xsd:string) AnnotationAssertion( "Ambulatory Difficulty"^^xsd:string) AnnotationAssertion( "Difficulty Walking"^^xsd:string) AnnotationAssertion( "Mobility Limitations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007114"^^xsd:string) AnnotationAssertion(rdfs:label "Mobility Limitation"^^xsd:string) SubClassOf( ) # Class: (Adult Acne) AnnotationAssertion( "MIM:604324"^^xsd:string) AnnotationAssertion( "MESH:C565791"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007115"^^xsd:string) AnnotationAssertion(rdfs:label "Adult Acne"^^xsd:string) SubClassOf( ) # Class: (Snake Bites) AnnotationAssertion(Annotation( "MESH:D012909"^^xsd:string) "Bites by snakes. Bite by a venomous snake is characterized by stinging pain at the wound puncture. The venom injected at the site of the bite is capable of producing a deleterious effect on the blood or on the nervous system. (Webster's 3d ed; from Dorland, 27th ed, at snake, venomous)"^^xsd:string) AnnotationAssertion( "MESH:D012909"^^xsd:string) AnnotationAssertion( "Snake Bite"^^xsd:string) AnnotationAssertion( "Snake Envenomation"^^xsd:string) AnnotationAssertion( "Snake Envenomations"^^xsd:string) AnnotationAssertion( "Snakebite"^^xsd:string) AnnotationAssertion( "Snakebites"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007116"^^xsd:string) AnnotationAssertion(rdfs:label "Snake Bites"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Hypercholanemia) AnnotationAssertion( "MESH:C564336"^^xsd:string) AnnotationAssertion( "MIM:PS607748"^^xsd:string) AnnotationAssertion( "FHCA"^^xsd:string) AnnotationAssertion( "hypercholanemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007118"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypercholanemia"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6) AnnotationAssertion(Annotation( "MIM:619767"^^xsd:string) "Highly variable symptoms mainly affecting the hematopoietic or pulmonary systems. Caused by heterozygous mutation in the RPA1 gene on chromosome 17p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-03-07T11:38:19Z"^^xsd:string) AnnotationAssertion( "MIM:619767"^^xsd:string) AnnotationAssertion( "PFBMFT6"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6"^^xsd:string) AnnotationAssertion( "RPA1-RELATED SHORT TELOMERE SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007119"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6"^^xsd:string) SubClassOf( ) # Class: (Meckel Syndrome 11) AnnotationAssertion( "MIM:615397"^^xsd:string) AnnotationAssertion( "MKS11"^^xsd:string) AnnotationAssertion( "Meckel Syndrome, Type 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007120"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel Syndrome 11"^^xsd:string) SubClassOf( ) # Class: (Baker-Winegrad Disease) AnnotationAssertion( "MESH:C537900"^^xsd:string) AnnotationAssertion( "RDO:0003811"^^xsd:string) AnnotationAssertion( "Autosomal recessive fructose 1, 6-diphosphatase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007121"^^xsd:string) AnnotationAssertion(rdfs:label "Baker-Winegrad Disease"^^xsd:string) SubClassOf( ) # Class: (Acitretin Embryopathy) AnnotationAssertion( "MESH:C538169"^^xsd:string) AnnotationAssertion( "RDO:0004108"^^xsd:string) AnnotationAssertion( "Acitretine embryofetopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007122"^^xsd:string) AnnotationAssertion(rdfs:label "Acitretin Embryopathy"^^xsd:string) SubClassOf( ) # Class: (Radiation Induced Meningioma) AnnotationAssertion( "MIM:606190"^^xsd:string) AnnotationAssertion( "MESH:C536266"^^xsd:string) AnnotationAssertion( "MNRI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007123"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Induced Meningioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Uniparental Disomy 1q12 q21) AnnotationAssertion( "MESH:C538085"^^xsd:string) AnnotationAssertion( "Mosaic trisomy 1q12 q21"^^xsd:string) AnnotationAssertion( "Uniparental disomy 1q12 q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007124"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Uniparental Disomy 1q12 q21"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Coffin Syndrome 1) AnnotationAssertion( "MESH:C536435"^^xsd:string) AnnotationAssertion( "Dwarfism, lean spastic type"^^xsd:string) AnnotationAssertion( "Lean spastic dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007126"^^xsd:string) AnnotationAssertion(rdfs:label "Coffin Syndrome 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Progressive External Ophthalmoplegia with Hypogonadism) AnnotationAssertion( "MESH:C563576"^^xsd:string) AnnotationAssertion( "RDO:0012799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007128"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive External Ophthalmoplegia with Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autoimmune Oophoritis) AnnotationAssertion( "MESH:C538274"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007129"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Oophoritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 4, Monosomy 4q32) AnnotationAssertion( "MESH:C537640"^^xsd:string) AnnotationAssertion( "Deletion 4q32"^^xsd:string) AnnotationAssertion( "Monosomy 4q32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007130"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Monosomy 4q32"^^xsd:string) SubClassOf( ) # Class: (Polydactyly-Macrocephaly Syndrome) AnnotationAssertion(Annotation( "MIM:620712"^^xsd:string) "A disease characterized by postaxial polydactyly and progressive macrocephaly. Caused by heterozygous mutation in the MAX gene on chromosome 14q23."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-12T10:26:55Z"^^xsd:string) AnnotationAssertion( "MIM:620712"^^xsd:string) AnnotationAssertion( "PDMCS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007131"^^xsd:string) AnnotationAssertion(rdfs:label "Polydactyly-Macrocephaly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Umbilical Cord Ulceration and Intestinal Atresia) AnnotationAssertion( "MESH:C536938"^^xsd:string) AnnotationAssertion( "Umbilical cord ulcer with intestinal atresia"^^xsd:string) AnnotationAssertion( "Umbilical ulceration and intestinal atresia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007132"^^xsd:string) AnnotationAssertion(rdfs:label "Umbilical Cord Ulceration and Intestinal Atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neoplastic Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D011252"^^xsd:string) "The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION."^^xsd:string) AnnotationAssertion( "MESH:D011252"^^xsd:string) AnnotationAssertion( "Neoplastic Pregnancy Complication"^^xsd:string) AnnotationAssertion( "Pregnancies, Neoplastic Complications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007134"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplastic Pregnancy Complications"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eosinophilic Fasciitis) AnnotationAssertion( "MIM:226350"^^xsd:string) AnnotationAssertion( "MESH:C562487"^^xsd:string) AnnotationAssertion( "NCI:C112116"^^xsd:string) AnnotationAssertion( "ORDO:3165"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007135"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Fasciitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atrioventricular Septal Defect 3) AnnotationAssertion( "AVSD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007136"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect 3"^^xsd:string) SubClassOf( ) # Class: (Hepatic Lipase Deficiency) AnnotationAssertion( "GARD:12864"^^xsd:string) AnnotationAssertion( "MIM:614025"^^xsd:string) AnnotationAssertion( "MONDO:0013533"^^xsd:string) AnnotationAssertion( "ORDO:140905"^^xsd:string) AnnotationAssertion( "HL deficiency"^^xsd:string) AnnotationAssertion( "LIPC deficiency"^^xsd:string) AnnotationAssertion( "hyperlipidemia due to HL deficiency"^^xsd:string) AnnotationAssertion( "hyperlipidemia due to HTGL deficiency"^^xsd:string) AnnotationAssertion( "hyperlipidemia due to hepatic triacylglycerol lipase deficiency"^^xsd:string) AnnotationAssertion( "hyperlipidemia due to hepatic triglyceride lipase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007137"^^xsd:string) AnnotationAssertion(rdfs:label "Hepatic Lipase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Cd4+ Lymphocyte Deficiency) AnnotationAssertion( "MESH:C566079"^^xsd:string) AnnotationAssertion( "RDO:0014542"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007138"^^xsd:string) AnnotationAssertion(rdfs:label "Cd4+ Lymphocyte Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperphenylalaninemia, Non-Pku Mild) AnnotationAssertion( "MESH:C567494"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007139"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphenylalaninemia, Non-Pku Mild"^^xsd:string) SubClassOf( ) # Class: (Spinal Muscular Atrophy with Congenital Bone Fractures 1) AnnotationAssertion( "MIM:616866"^^xsd:string) AnnotationAssertion( "TRIP4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C564805"^^xsd:string) AnnotationAssertion( "SMABF1"^^xsd:string) AnnotationAssertion( "Spinal Muscular Atrophy Type I, with Congenital Bone Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007140"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy with Congenital Bone Fractures 1"^^xsd:string) SubClassOf( ) # Class: (Normokalemic Periodic Paralysis, Potassium-Sensitive) AnnotationAssertion( "MIM:170600"^^xsd:string) AnnotationAssertion( "MESH:C566809"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007141"^^xsd:string) AnnotationAssertion(rdfs:label "Normokalemic Periodic Paralysis, Potassium-Sensitive"^^xsd:string) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group G) AnnotationAssertion( "MESH:C566406"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007142"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group G"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Moebius Axonal Neuropathy Hypogonadism) AnnotationAssertion( "RDO:0001115"^^xsd:string) AnnotationAssertion( "MESH:C535806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007144"^^xsd:string) AnnotationAssertion(rdfs:label "Moebius Axonal Neuropathy Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sarcoma 180) AnnotationAssertion(Annotation( "MESH:D012510"^^xsd:string) "An experimental sarcoma of mice."^^xsd:string) AnnotationAssertion( "MESH:D012510"^^xsd:string) AnnotationAssertion( "Crocker Sarcoma 180"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007145"^^xsd:string) AnnotationAssertion(rdfs:label "Sarcoma 180"^^xsd:string) SubClassOf( ) # Class: (Hypouricemia, Hypercalcinuria, and Decreased Bone Density) AnnotationAssertion( "MIM:242050"^^xsd:string) AnnotationAssertion( "MESH:C565475"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007146"^^xsd:string) AnnotationAssertion(rdfs:label "Hypouricemia, Hypercalcinuria, and Decreased Bone Density"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 3, Primary Infantile, B) AnnotationAssertion( "MIM:600975"^^xsd:string) AnnotationAssertion( "MESH:C536824"^^xsd:string) AnnotationAssertion( "RDO:0002517"^^xsd:string) AnnotationAssertion( "GLC3, TYPE B"^^xsd:string) AnnotationAssertion( "GLC3B"^^xsd:string) AnnotationAssertion( "Glaucoma, Primary Congenital, Type B"^^xsd:string) AnnotationAssertion( "Primary congenital glaucoma type 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007147"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 3, Primary Infantile, B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Blepharophimosis Syndrome Type 2) AnnotationAssertion( "MESH:C536234"^^xsd:string) AnnotationAssertion( "BPES without ovarian failure"^^xsd:string) AnnotationAssertion( "BPES, type II"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus type 2"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus type II"^^xsd:string) AnnotationAssertion( "blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007148"^^xsd:string) AnnotationAssertion(rdfs:label "Blepharophimosis Syndrome Type 2"^^xsd:string) SubClassOf( ) # Class: (Uniparental Disomy of 11) AnnotationAssertion( "MESH:C536468"^^xsd:string) AnnotationAssertion( "Paternal uniparental disomy for chromosome 11(type)"^^xsd:string) AnnotationAssertion( "Uniparental disomy of chromosome 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007149"^^xsd:string) AnnotationAssertion(rdfs:label "Uniparental Disomy of 11"^^xsd:string) SubClassOf( ) # Class: (Urogenital Neoplasms) AnnotationAssertion(Annotation( "MESH:D014565"^^xsd:string) "Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female."^^xsd:string) AnnotationAssertion( "EFO:0003863"^^xsd:string) AnnotationAssertion( "MESH:D014565"^^xsd:string) AnnotationAssertion( "Genito urinary Cancer"^^xsd:string) AnnotationAssertion( "Genito-urinary Cancers"^^xsd:string) AnnotationAssertion( "Genito-urinary Neoplasm"^^xsd:string) AnnotationAssertion( "Genito-urinary Neoplasms"^^xsd:string) AnnotationAssertion( "Genitourinary Cancer"^^xsd:string) AnnotationAssertion( "Genitourinary Cancers"^^xsd:string) AnnotationAssertion( "Genitourinary Neoplasm"^^xsd:string) AnnotationAssertion( "Genitourinary Neoplasms"^^xsd:string) AnnotationAssertion( "Urogenital Cancer"^^xsd:string) AnnotationAssertion( "Urogenital Cancers"^^xsd:string) AnnotationAssertion( "Urogenital Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007150"^^xsd:string) AnnotationAssertion(rdfs:label "Urogenital Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis) AnnotationAssertion( "GARD:10516"^^xsd:string) AnnotationAssertion( "MESH:C557815"^^xsd:string) AnnotationAssertion( "MIM:612852"^^xsd:string) AnnotationAssertion( "MONDO:0013021"^^xsd:string) AnnotationAssertion( "ORDO:210115"^^xsd:string) AnnotationAssertion( "CRMO2"^^xsd:string) AnnotationAssertion( "DIRA"^^xsd:string) AnnotationAssertion( "Deficiency of Interleukin-1 Receptor Antagonist"^^xsd:string) AnnotationAssertion( "Deficiency of interleukin-1 receptor antagonist (DIRA)"^^xsd:string) AnnotationAssertion( "OMPP"^^xsd:string) AnnotationAssertion( "deficiency of interleukin(IL)-1 receptor antagonist"^^xsd:string) AnnotationAssertion( "interleukin 1 receptor antagonist deficiency"^^xsd:string) AnnotationAssertion( "sterile multifocal osteomyelitis, with periostitis and pustulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007151"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Talipes) AnnotationAssertion(Annotation( "MESH:D000070558"^^xsd:string) "Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY."^^xsd:string) AnnotationAssertion( "MESH:D000070558"^^xsd:string) AnnotationAssertion( "Talipedes"^^xsd:string) AnnotationAssertion( "Talipes Calcaneovarus"^^xsd:string) AnnotationAssertion( "Talipes Calcaneus"^^xsd:string) AnnotationAssertion( "Talipes Varus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007152"^^xsd:string) AnnotationAssertion(rdfs:label "Talipes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pediatric Crohn's Disease) AnnotationAssertion( "MESH:C536215"^^xsd:string) AnnotationAssertion( "pediatric onset Crohn's disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007153"^^xsd:string) AnnotationAssertion(rdfs:label "Pediatric Crohn's Disease"^^xsd:string) SubClassOf( ) # Class: (Choanal Atresia and Lymphedema) AnnotationAssertion( "MIM:613611"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007154"^^xsd:string) AnnotationAssertion(rdfs:label "Choanal Atresia and Lymphedema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 8) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-09-05T07:48:37Z"^^xsd:string) AnnotationAssertion( "MIM:619009"^^xsd:string) AnnotationAssertion( "OOMD8"^^xsd:string) AnnotationAssertion( "OZEMA8"^^xsd:string) AnnotationAssertion( "Oocyte Maturation Defect 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007155"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 8"^^xsd:string) SubClassOf( ) # Class: (Enteritis) AnnotationAssertion(Annotation( "MESH:D004751"^^xsd:string) "Inflammation of any segment of the SMALL INTESTINE."^^xsd:string) AnnotationAssertion( "MESH:D004751"^^xsd:string) AnnotationAssertion( "RDO:0001336"^^xsd:string) AnnotationAssertion( "Enteritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007156"^^xsd:string) AnnotationAssertion(rdfs:label "Enteritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hydrocephalus, Autosomal Dominant) AnnotationAssertion( "MIM:123155"^^xsd:string) AnnotationAssertion( "RDO:0013084"^^xsd:string) AnnotationAssertion( "MESH:C563973"^^xsd:string) AnnotationAssertion( "HDCPH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007157"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrocephalus, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Prata Libéral Gonçalves Syndrome) AnnotationAssertion( "MESH:C538277"^^xsd:string) AnnotationAssertion( "Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis"^^xsd:string) AnnotationAssertion( "Prata Liberal Goncalves syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007158"^^xsd:string) AnnotationAssertion(rdfs:label "Prata Libéral Gonçalves Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nervous System Lead Poisoning) AnnotationAssertion(Annotation( "MESH:D020263"^^xsd:string) "Injury to the nervous system secondary to exposure to lead compounds. Two distinct clinical patterns occur in children (LEAD POISONING, NERVOUS SYSTEM, CHILDHOOD) and adults (LEAD POISONING, NERVOUS SYSTEM, ADULT). In children, lead poisoning typically produces an encephalopathy. In adults, exposure to toxic levels of lead is associated with a peripheral neuropathy."^^xsd:string) AnnotationAssertion( "MESH:D020263"^^xsd:string) AnnotationAssertion( "Lead Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "Lead Neurotoxicity Syndromes"^^xsd:string) AnnotationAssertion( "Lead-Induced Nervous System Diseases"^^xsd:string) AnnotationAssertion( "Nervous System Plumbism"^^xsd:string) AnnotationAssertion( "Neurologic Lead Poisoning"^^xsd:string) AnnotationAssertion( "Neurologic Plumbism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007159"^^xsd:string) AnnotationAssertion(rdfs:label "Nervous System Lead Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 8) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-03-30T10:31:46Z"^^xsd:string) AnnotationAssertion( "MIM:618824"^^xsd:string) AnnotationAssertion( "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "IBGC8"^^xsd:string) AnnotationAssertion( "JAM2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007160"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 8"^^xsd:string) SubClassOf( ) # Class: (Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-01-15T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001141"^^xsd:string) AnnotationAssertion( "MIM:616723"^^xsd:string) AnnotationAssertion( "SEMDFA"^^xsd:string) AnnotationAssertion( "progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007161"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 8 Ring) AnnotationAssertion( "MESH:C537824"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007162"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8 Ring"^^xsd:string) SubClassOf( ) # Class: (Craniotelencephalic Dysplasia) AnnotationAssertion( "MIM:218670"^^xsd:string) AnnotationAssertion( "MESH:C535597"^^xsd:string) AnnotationAssertion( "Complex of anomalies involving the cranium and brain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007163"^^xsd:string) AnnotationAssertion(rdfs:label "Craniotelencephalic Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Dyschondrosteosis and Nephritis) AnnotationAssertion( "MIM:127350"^^xsd:string) AnnotationAssertion( "MESH:C565080"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007164"^^xsd:string) AnnotationAssertion(rdfs:label "Dyschondrosteosis and Nephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group E) AnnotationAssertion( "MESH:C566569"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007165"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group E"^^xsd:string) SubClassOf( ) # Class: (Meningeal Neoplasms) AnnotationAssertion(Annotation( "MESH:D008577"^^xsd:string) "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord."^^xsd:string) AnnotationAssertion( "EFO:0003851"^^xsd:string) AnnotationAssertion( "MESH:D008577"^^xsd:string) AnnotationAssertion( "NCI:C3229"^^xsd:string) AnnotationAssertion( "Intracranial Meningeal Neoplasm"^^xsd:string) AnnotationAssertion( "Leptomeningeal Neoplasm"^^xsd:string) AnnotationAssertion( "Leptomeningeal Neoplasms"^^xsd:string) AnnotationAssertion( "Meningeal Neoplasm"^^xsd:string) AnnotationAssertion( "Meningeal Tumor"^^xsd:string) AnnotationAssertion( "Meningeal Tumors"^^xsd:string) AnnotationAssertion( "intracranial meningeal neoplasms"^^xsd:string) AnnotationAssertion( "spinal meningeal neoplasm"^^xsd:string) AnnotationAssertion( "spinal meningeal neoplasms"^^xsd:string) AnnotationAssertion( "Benign Meningeal Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Meningeal Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Meningeal Neoplasms"^^xsd:string) AnnotationAssertion( "Meningeal Cancer"^^xsd:string) AnnotationAssertion( "Meningeal Cancers"^^xsd:string) AnnotationAssertion( "benign meningeal neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007166"^^xsd:string) AnnotationAssertion(rdfs:label "Meningeal Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Carney Triad) AnnotationAssertion( "MIM:604287"^^xsd:string) AnnotationAssertion( "MESH:C565803"^^xsd:string) AnnotationAssertion( "Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007167"^^xsd:string) AnnotationAssertion(rdfs:label "Carney Triad"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Genetic Skin Diseases) AnnotationAssertion(Annotation( "MESH:D012873"^^xsd:string) "Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism."^^xsd:string) AnnotationAssertion( "RDO:0001013"^^xsd:string) AnnotationAssertion( "MESH:D012873"^^xsd:string) AnnotationAssertion( "Genetic Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007168"^^xsd:string) AnnotationAssertion(rdfs:label "Genetic Skin Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ichthyosiform Erythroderma, Corneal Involvement, Deafness) AnnotationAssertion( "MIM:242150"^^xsd:string) AnnotationAssertion( "MESH:C537363"^^xsd:string) AnnotationAssertion( "Desmons syndrome"^^xsd:string) AnnotationAssertion( "Ichthyosiform erythroderma, corneal involvement, and deafness"^^xsd:string) AnnotationAssertion( "Keratitis-ichthyosis-deafness syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "Kid syndrome, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007169"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosiform Erythroderma, Corneal Involvement, Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bowen's Disease) AnnotationAssertion(Annotation( "MESH:D001913"^^xsd:string) "A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)"^^xsd:string) AnnotationAssertion( "MESH:D001913"^^xsd:string) AnnotationAssertion( "Bowen Disease"^^xsd:string) AnnotationAssertion( "Bowens Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007170"^^xsd:string) AnnotationAssertion(rdfs:label "Bowen's Disease"^^xsd:string) SubClassOf( ) # Class: (Intraoperative Complications) AnnotationAssertion(Annotation( "MESH:D007431"^^xsd:string) "Complications that affect patients during surgery. They may or may not be associated with the disease for which the surgery is done, or within the same surgical procedure."^^xsd:string) AnnotationAssertion( "MESH:D007431"^^xsd:string) AnnotationAssertion( "RDO:0005903"^^xsd:string) AnnotationAssertion( "Intraoperative Complication"^^xsd:string) AnnotationAssertion( "Peroperative Complication"^^xsd:string) AnnotationAssertion( "Peroperative Complications"^^xsd:string) AnnotationAssertion( "Surgical Injuries"^^xsd:string) AnnotationAssertion( "Surgical Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007171"^^xsd:string) AnnotationAssertion(rdfs:label "Intraoperative Complications"^^xsd:string) SubClassOf( ) # Class: (Cardiac Valvular Dysplasia) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T08:59:35Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007172"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac Valvular Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Natural Short Sleep 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-19T10:09:35Z"^^xsd:string) AnnotationAssertion( "MIM:612975"^^xsd:string) AnnotationAssertion( "FNSS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007173"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Natural Short Sleep 1"^^xsd:string) SubClassOf( ) # Class: (Ventricular Remodeling) AnnotationAssertion(Annotation( "MESH:D020257"^^xsd:string) "The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle."^^xsd:string) AnnotationAssertion( "MESH:D020257"^^xsd:string) AnnotationAssertion( "Left Ventricle Remodeling"^^xsd:string) AnnotationAssertion( "Left Ventricle Remodelings"^^xsd:string) AnnotationAssertion( "Left Ventricular Remodeling"^^xsd:string) AnnotationAssertion( "Left Ventricular Remodelings"^^xsd:string) AnnotationAssertion( "Ventricle Remodeling"^^xsd:string) AnnotationAssertion( "Ventricle Remodelings"^^xsd:string) AnnotationAssertion( "Ventricular Cardiac Remodeling"^^xsd:string) AnnotationAssertion( "Ventricular Cardiac Remodelings"^^xsd:string) AnnotationAssertion( "Ventricular Myocardial Remodeling"^^xsd:string) AnnotationAssertion( "Ventricular Myocardial Remodelings"^^xsd:string) AnnotationAssertion( "Ventricular Remodelings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007174"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Remodeling"^^xsd:string) SubClassOf( ) # Class: (Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant) AnnotationAssertion( "MESH:C563392"^^xsd:string) AnnotationAssertion( "RDO:0012659"^^xsd:string) AnnotationAssertion( "ADRESD"^^xsd:string) AnnotationAssertion( "RESDAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007175"^^xsd:string) AnnotationAssertion(rdfs:label "Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rheumatic Nodule) AnnotationAssertion(Annotation( "MESH:D012215"^^xsd:string) "A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001416"^^xsd:string) AnnotationAssertion( "MESH:D012215"^^xsd:string) AnnotationAssertion( "RDO:0006491"^^xsd:string) AnnotationAssertion( "Aschoff Bodies"^^xsd:string) AnnotationAssertion( "Rheumatic Nodules"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007176"^^xsd:string) AnnotationAssertion(rdfs:label "Rheumatic Nodule"^^xsd:string) SubClassOf( ) # Class: (Noninsulin-Dependent Diabetes Mellitus with Deafness) AnnotationAssertion( "MIM:520000"^^xsd:string) AnnotationAssertion( "MESH:C536246"^^xsd:string) AnnotationAssertion( "Ballinger-Wallace syndrome"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus, Type II, With Deafness"^^xsd:string) AnnotationAssertion( "Diabetes mellitus, type 2, with deafness"^^xsd:string) AnnotationAssertion( "MIDD"^^xsd:string) AnnotationAssertion( "Maternally Transmitted Diabetes-Deafness Syndrome"^^xsd:string) AnnotationAssertion( "Maternally inherited diabetes and deafness"^^xsd:string) AnnotationAssertion( "NIDDM with deafness"^^xsd:string) AnnotationAssertion( "mitochondrial inherited diabetes and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007177"^^xsd:string) AnnotationAssertion(rdfs:label "Noninsulin-Dependent Diabetes Mellitus with Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Reciprocating Tachycardia) AnnotationAssertion(Annotation( "MESH:D054139"^^xsd:string) "Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE."^^xsd:string) AnnotationAssertion( "EFO:1001432"^^xsd:string) AnnotationAssertion( "MESH:D054139"^^xsd:string) AnnotationAssertion( "Reciprocal Tachycardia"^^xsd:string) AnnotationAssertion( "Reciprocal Tachycardias"^^xsd:string) AnnotationAssertion( "Reciprocating Tachycardias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007178"^^xsd:string) AnnotationAssertion(rdfs:label "Reciprocating Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia Adrenal Cyst) AnnotationAssertion( "MIM:129550"^^xsd:string) AnnotationAssertion( "MESH:C538015"^^xsd:string) AnnotationAssertion( "Adrenal cyst with ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007179"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia Adrenal Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (HELIX syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617671"^^xsd:string) AnnotationAssertion( "HELIX"^^xsd:string) AnnotationAssertion( "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007180"^^xsd:string) AnnotationAssertion(rdfs:label "HELIX syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Osteoporotic Fractures) AnnotationAssertion(Annotation( "MESH:D058866"^^xsd:string) "Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS."^^xsd:string) AnnotationAssertion( "MESH:D058866"^^xsd:string) AnnotationAssertion( "Osteoporotic Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007181"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoporotic Fractures"^^xsd:string) SubClassOf( ) # Class: (Right Ventricular Outflow Obstruction) AnnotationAssertion( "Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:37:44Z"^^xsd:string) AnnotationAssertion( "MESH:D000092243"^^xsd:string) AnnotationAssertion( "Dynamic RVOT Obstruction"^^xsd:string) AnnotationAssertion( "Dynamic Right Ventricular Outflow Tract Obstruction"^^xsd:string) AnnotationAssertion( "RVOT Obstruction"^^xsd:string) AnnotationAssertion( "Right Ventricular Outflow Tract Obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007182"^^xsd:string) AnnotationAssertion(rdfs:label "Right Ventricular Outflow Obstruction"^^xsd:string) SubClassOf( ) # Class: (Premature Chromatid Separation Trait) AnnotationAssertion( "EFO:0009077"^^xsd:string) AnnotationAssertion( "MIM:176430"^^xsd:string) AnnotationAssertion( "PCS"^^xsd:string) AnnotationAssertion( "TOTAL PREMATURE CHROMATID SEPARATION TRAIT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007183"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Chromatid Separation Trait"^^xsd:string) SubClassOf( ) # Class: (Meckel-Like Cerebrorenodigital Syndrome) AnnotationAssertion( "MESH:C567004"^^xsd:string) AnnotationAssertion( "RDO:0015194"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007184"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel-Like Cerebrorenodigital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Shprintzen-Goldberg Craniosynostosis) AnnotationAssertion( "MIM:182212"^^xsd:string) AnnotationAssertion( "MESH:C537328"^^xsd:string) AnnotationAssertion( "NCI:C124840"^^xsd:string) AnnotationAssertion( "ORDO:2462"^^xsd:string) AnnotationAssertion( "SGS"^^xsd:string) AnnotationAssertion( "Shprintzen-Goldberg craniosynostosis syndrome"^^xsd:string) AnnotationAssertion( "Shprintzen-Goldberg syndrome"^^xsd:string) AnnotationAssertion( "craniosynostosis and marfanoid disorder, type 1"^^xsd:string) AnnotationAssertion( "craniosynostosis with arachnodactyly and abdominal hernias"^^xsd:string) AnnotationAssertion( "marfanoid craniosynostosis syndrome"^^xsd:string) AnnotationAssertion( "marfanoid disorder with craniosynostosis, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007185"^^xsd:string) AnnotationAssertion(rdfs:label "Shprintzen-Goldberg Craniosynostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation) AnnotationAssertion( "MIM:206750"^^xsd:string) AnnotationAssertion( "aniridia, renal agenesis, psychomotor retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007186"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome, with Facial Dysmorphism) AnnotationAssertion( "RDO:0012989"^^xsd:string) AnnotationAssertion( "MESH:C563830"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome, associated with facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007187"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome, with Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Liver Neoplasms) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-23T14:23:10Z"^^xsd:string) AnnotationAssertion( "EFO:1001513"^^xsd:string) AnnotationAssertion( "MESH:D008113"^^xsd:string) AnnotationAssertion( "NEOPLASM OF THE LIVER"^^xsd:string) AnnotationAssertion( "hepatic neoplasm"^^xsd:string) AnnotationAssertion( "hepatic neoplasms"^^xsd:string) AnnotationAssertion( "liver neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007188"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multifocal Choroiditis) AnnotationAssertion( "A multifocal uveitis syndrome involving the RETINAL PIGMENT EPITHELIUM and capillary layer of the CHOROID. It is characterized by chronic UVEITIS and multiple CHOROID lesions referred to as white dots, blurry vision, floaters, sensitivity to light, blind spots, and eye discomfort. (MESH)"^^xsd:string) AnnotationAssertion( "MESH:D000080364"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007189"^^xsd:string) AnnotationAssertion(rdfs:label "Multifocal Choroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rheumatoid Vasculitis) AnnotationAssertion(Annotation( "MESH:D056653"^^xsd:string) "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ULCERS, peripheral GANGRENE, and MONONEURITIS MULTIPLEX."^^xsd:string) AnnotationAssertion( "MESH:D056653"^^xsd:string) AnnotationAssertion( "Rheumatoid Vasculitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007190"^^xsd:string) AnnotationAssertion(rdfs:label "Rheumatoid Vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 9, Tetrasomy 9p) AnnotationAssertion( "GARD:42"^^xsd:string) AnnotationAssertion( "MESH:C538027"^^xsd:string) AnnotationAssertion( "MONDO:0018030"^^xsd:string) AnnotationAssertion( "ORDO:3310"^^xsd:string) AnnotationAssertion( "Chromosome 9, tetrasomy 9p mosaicism"^^xsd:string) AnnotationAssertion( "Mosaic tetrasomy 9p"^^xsd:string) AnnotationAssertion( "Tetrasomy 9p"^^xsd:string) AnnotationAssertion( "Tetrasomy, short arm of chromosome 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007191"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Tetrasomy 9p"^^xsd:string) SubClassOf( ) # Class: (Noninflammatory Corneal Thinning) AnnotationAssertion( "MESH:C531720"^^xsd:string) AnnotationAssertion( "RDO:0000139"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007192"^^xsd:string) AnnotationAssertion(rdfs:label "Noninflammatory Corneal Thinning"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sciatica) AnnotationAssertion(Annotation( "MESH:D012585"^^xsd:string) "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of SCIATIC NEUROPATHY; RADICULOPATHY (involving the SPINAL NERVE ROOTS; L4, L5, S1, or S2, often associated with INTERVERTEBRAL DISK DISPLACEMENT); or lesions of the CAUDA EQUINA."^^xsd:string) AnnotationAssertion( "MESH:D012585"^^xsd:string) AnnotationAssertion( "RDO:0000199"^^xsd:string) AnnotationAssertion( "Bilateral Sciatica"^^xsd:string) AnnotationAssertion( "Bilateral Sciaticas"^^xsd:string) AnnotationAssertion( "Sciatic Neuralgia"^^xsd:string) AnnotationAssertion( "Sciatic Neuralgias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007194"^^xsd:string) AnnotationAssertion(rdfs:label "Sciatica"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meacham Winn Culler Syndrome) AnnotationAssertion( "MIM:608978"^^xsd:string) AnnotationAssertion( "MESH:C538162"^^xsd:string) AnnotationAssertion( "Meacham syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007195"^^xsd:string) AnnotationAssertion(rdfs:label "Meacham Winn Culler Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors) AnnotationAssertion( "MIM:254190"^^xsd:string) AnnotationAssertion( "MESH:C564979"^^xsd:string) AnnotationAssertion( "MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007196"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors"^^xsd:string) SubClassOf( ) # Class: (Crisscross Heart) AnnotationAssertion(Annotation( "MESH:D003420"^^xsd:string) "A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VENTRICLE."^^xsd:string) AnnotationAssertion( "MESH:D003420"^^xsd:string) AnnotationAssertion( "Criss cross Heart"^^xsd:string) AnnotationAssertion( "Criss-cross Hearts"^^xsd:string) AnnotationAssertion( "Crisscross Hearts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007197"^^xsd:string) AnnotationAssertion(rdfs:label "Crisscross Heart"^^xsd:string) SubClassOf( ) # Class: (Seaver Cassidy Syndrome) AnnotationAssertion( "MESH:C537529"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007198"^^xsd:string) AnnotationAssertion(rdfs:label "Seaver Cassidy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paraneoplastic Syndromes) AnnotationAssertion(Annotation( "MESH:D010257"^^xsd:string) "In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products."^^xsd:string) AnnotationAssertion( "MESH:D010257"^^xsd:string) AnnotationAssertion( "RDO:0006200"^^xsd:string) AnnotationAssertion( "Paraneoplastic Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007199"^^xsd:string) AnnotationAssertion(rdfs:label "Paraneoplastic Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute promyelocytic leukemia with PLZF/RARA) AnnotationAssertion(Annotation( "PMID:8387545"^^xsd:string) "This disease is an acute promyelocytic leukemia that is characterized by cervical lymphadenopathy, absence of hepatosplenomegaly, bone marrow hypercellularity with 69% APL-like promyelocytes, and the t(11;17) (q23;21) translocation generating a PLZF-RARA fusion gene."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-23T11:14:53Z"^^xsd:string) AnnotationAssertion( "Leukemia, acute promyelocytic, PLZF/RARA type"^^xsd:string) AnnotationAssertion( "ZBTB16-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007200"^^xsd:string) AnnotationAssertion(rdfs:label "acute promyelocytic leukemia with PLZF/RARA"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA) AnnotationAssertion(Annotation( "MIM:619306"^^xsd:string) "This is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. Brain imaging shows abnormalities of the cerebellum."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-18T10:51:30Z"^^xsd:string) AnnotationAssertion( "MIM:619306"^^xsd:string) AnnotationAssertion( "MONDO:0859141"^^xsd:string) AnnotationAssertion( "NEDFACH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007202"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Slipped Epiphyses) AnnotationAssertion(Annotation( "MESH:D004839"^^xsd:string) "A complete or partial separation of the EPIPHYSES from the DIAPHYSES."^^xsd:string) AnnotationAssertion( "EFO:1001317"^^xsd:string) AnnotationAssertion( "MESH:D004839"^^xsd:string) AnnotationAssertion( "Epiphysiolyses"^^xsd:string) AnnotationAssertion( "Epiphysiolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007203"^^xsd:string) AnnotationAssertion(rdfs:label "Slipped Epiphyses"^^xsd:string) SubClassOf( ) # Class: (Dysbiosis) AnnotationAssertion(Annotation( "MESH:D064806"^^xsd:string) "Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation."^^xsd:string) AnnotationAssertion( "MESH:D064806"^^xsd:string) AnnotationAssertion( "Disbacterioses"^^xsd:string) AnnotationAssertion( "Disbacteriosis"^^xsd:string) AnnotationAssertion( "Disbioses"^^xsd:string) AnnotationAssertion( "Disbiosis"^^xsd:string) AnnotationAssertion( "Dys symbiosis"^^xsd:string) AnnotationAssertion( "Dys-symbioses"^^xsd:string) AnnotationAssertion( "Dysbacterioses"^^xsd:string) AnnotationAssertion( "Dysbacteriosis"^^xsd:string) AnnotationAssertion( "Dysbioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007204"^^xsd:string) AnnotationAssertion(rdfs:label "Dysbiosis"^^xsd:string) SubClassOf( ) # Class: (Spinal Muscular Atrophy, Ryukyuan Type) AnnotationAssertion( "MIM:271200"^^xsd:string) AnnotationAssertion( "MESH:C536881"^^xsd:string) AnnotationAssertion( "Ryukyuan muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007205"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy, Ryukyuan Type"^^xsd:string) SubClassOf( ) # Class: (Stomach Diverticulum) AnnotationAssertion(Annotation( "MESH:D013273"^^xsd:string) "Saccular, outward protrusion of all or a portion of the wall of the STOMACH."^^xsd:string) AnnotationAssertion( "EFO:1001850"^^xsd:string) AnnotationAssertion( "MESH:D013273"^^xsd:string) AnnotationAssertion( "Gastric Diverticula"^^xsd:string) AnnotationAssertion( "Gastric Diverticulum"^^xsd:string) AnnotationAssertion( "Stomach Diverticula"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007206"^^xsd:string) AnnotationAssertion(rdfs:label "Stomach Diverticulum"^^xsd:string) SubClassOf( ) # Class: (Skin/Hair/Eye Pigmentation, Variation In, 7) AnnotationAssertion( "MIM:611664"^^xsd:string) AnnotationAssertion( "MESH:C567155"^^xsd:string) AnnotationAssertion( "SHEP7"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 7, Blond-Brown Hair"^^xsd:string) AnnotationAssertion( "Skin-Hair-Eye Pigmentation 7, Dark-Light Skin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007207"^^xsd:string) AnnotationAssertion(rdfs:label "Skin/Hair/Eye Pigmentation, Variation In, 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Somatic Meningioma) AnnotationAssertion( "Meningioma, NF2-related, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007209"^^xsd:string) AnnotationAssertion(rdfs:label "Somatic Meningioma"^^xsd:string) SubClassOf( ) # Class: (Postaxial Polydactyly, with Dental and Vertebral Anomalies) AnnotationAssertion( "MIM:263540"^^xsd:string) AnnotationAssertion( "MESH:C564880"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007210"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, with Dental and Vertebral Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Anodontia of Permanent Dentition) AnnotationAssertion( "MIM:206780"^^xsd:string) AnnotationAssertion( "MESH:C563203"^^xsd:string) AnnotationAssertion( "Absence of Permanent Teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007212"^^xsd:string) AnnotationAssertion(rdfs:label "Anodontia of Permanent Dentition"^^xsd:string) SubClassOf( ) # Class: (Hemolytic Anemia due to Glutathione Reductase Deficiency) AnnotationAssertion( "MIM:618660"^^xsd:string) AnnotationAssertion( "MESH:C564218"^^xsd:string) AnnotationAssertion( "GSR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007213"^^xsd:string) AnnotationAssertion(rdfs:label "Hemolytic Anemia due to Glutathione Reductase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Cancer of the Oviduct) AnnotationAssertion( "MESH:C538511"^^xsd:string) AnnotationAssertion( "RDO:0004467"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007214"^^xsd:string) AnnotationAssertion(rdfs:label "Cancer of the Oviduct"^^xsd:string) SubClassOf( ) # Class: (Familial Ventricular Tachycardia) AnnotationAssertion( "RDO:0008196"^^xsd:string) AnnotationAssertion( "MIM:192605"^^xsd:string) AnnotationAssertion( "familial polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "polymorphic ventricular tachycardia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007215"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Ventricular Tachycardia"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia with Precocious Puberty) AnnotationAssertion( "MIM:182820"^^xsd:string) AnnotationAssertion( "MESH:C536874"^^xsd:string) AnnotationAssertion( "Familial spastic paraplegia, mental retardation, and precocious puberty"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007216"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia with Precocious Puberty"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 8) AnnotationAssertion( "MIM:615523"^^xsd:string) AnnotationAssertion( "FECD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007217"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 8"^^xsd:string) SubClassOf( ) # Class: (Supernumerary Der(22)t(8;22) Syndrome) AnnotationAssertion( "MIM:613700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007218"^^xsd:string) AnnotationAssertion(rdfs:label "Supernumerary Der(22)t(8;22) Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marfanoid Habitus with Situs Inversus) AnnotationAssertion( "MIM:609008"^^xsd:string) AnnotationAssertion( "MESH:C563814"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007219"^^xsd:string) AnnotationAssertion(rdfs:label "Marfanoid Habitus with Situs Inversus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only) AnnotationAssertion( "MESH:C563974"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007220"^^xsd:string) AnnotationAssertion(rdfs:label "Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jorgenson Lenz Syndrome) AnnotationAssertion( "MESH:C536292"^^xsd:string) AnnotationAssertion( "Blepharophimosis radioulnar synostosis"^^xsd:string) AnnotationAssertion( "Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis"^^xsd:string) AnnotationAssertion( "Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature-dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007221"^^xsd:string) AnnotationAssertion(rdfs:label "Jorgenson Lenz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bone Marrow Failure Disorders) AnnotationAssertion( "MESH:D000080983"^^xsd:string) AnnotationAssertion( "MIM:PS614675"^^xsd:string) AnnotationAssertion( "bone marrow failure"^^xsd:string) AnnotationAssertion( "bone marrow failure disorder"^^xsd:string) AnnotationAssertion( "bone marrow failure syndrome"^^xsd:string) AnnotationAssertion( "bone marrow failure syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007222"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure Disorders"^^xsd:string) SubClassOf( ) # Class: (Isolated Thoracic Dysostosis) AnnotationAssertion( "MIM:187750"^^xsd:string) AnnotationAssertion( "MESH:C566063"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007223"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Thoracic Dysostosis"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly) AnnotationAssertion(Annotation( "MIM:620075"^^xsd:string) "An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the TMEM147 gene on chromosome 19q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-19T12:13:56Z"^^xsd:string) AnnotationAssertion( "MIM:620075"^^xsd:string) AnnotationAssertion( "NEDFLPH"^^xsd:string) AnnotationAssertion( "TMEM147-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007224"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Obsessive Hoarding) AnnotationAssertion( "Persistent difficulty discarding or parting with possessions, regardless of the value of these possessions. Epidemiological studies suggest that hoarding occurs in 2-5% of the population and can lead to substantial distress and disability, as well as serious public health consequences."^^xsd:string) AnnotationAssertion( "MESH:D060845"^^xsd:string) AnnotationAssertion( "Hoarding"^^xsd:string) AnnotationAssertion( "Hoardings"^^xsd:string) AnnotationAssertion( "Obsessive Hoardings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007225"^^xsd:string) AnnotationAssertion(rdfs:label "Obsessive Hoarding"^^xsd:string) SubClassOf( ) # Class: (Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-07T09:58:19Z"^^xsd:string) AnnotationAssertion( "MIM:619132"^^xsd:string) AnnotationAssertion( "FTDALS8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007226"^^xsd:string) AnnotationAssertion(rdfs:label "Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8"^^xsd:string) SubClassOf( ) # Class: (Bruck Syndrome 1) AnnotationAssertion( "MIM:259450"^^xsd:string) AnnotationAssertion( "FKBP10-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537406"^^xsd:string) AnnotationAssertion( "MESH:C538124"^^xsd:string) AnnotationAssertion( "Arthrogryposis-like disorder"^^xsd:string) AnnotationAssertion( "BRKS1"^^xsd:string) AnnotationAssertion( "Kuskokwim disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007227"^^xsd:string) AnnotationAssertion(rdfs:label "Bruck Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Renal Nutcracker Syndrome) AnnotationAssertion(Annotation( "MESH:D059228"^^xsd:string) "Left RENAL VEIN compression between the AORTA, ABDOMINAL and the SUPERIOR MESENTERIC ARTERY. Variable symptoms include HYPERTENSION, RENOVASCULAR; HEMATURIA; and VARICOSE VEINS."^^xsd:string) AnnotationAssertion( "EFO:1001838"^^xsd:string) AnnotationAssertion( "EFO:1001915"^^xsd:string) AnnotationAssertion( "MESH:D059228"^^xsd:string) AnnotationAssertion( "Renal Nutcracker Phenomenon"^^xsd:string) AnnotationAssertion( "Renal Nutcracker Syndromes"^^xsd:string) AnnotationAssertion( "renal nutcracker phenomenons"^^xsd:string) AnnotationAssertion( "renal vein entrapment syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007228"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Nutcracker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures) AnnotationAssertion( "An autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Caused by homozygous mutation in the EMC10 gene on chromosome 19q13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-14T14:45:08Z"^^xsd:string) AnnotationAssertion( "MIM:619264"^^xsd:string) AnnotationAssertion( "NEDDFAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007229"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ectodermal Dysplasia and Neurosensory Deafness) AnnotationAssertion( "MIM:224800"^^xsd:string) AnnotationAssertion( "MESH:C565606"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007230"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia and Neurosensory Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness) AnnotationAssertion( "MIM:609616"^^xsd:string) AnnotationAssertion( "MESH:C566507"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007231"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Schrander-Stumpel Theunissen Hulsmans Syndrome) AnnotationAssertion( "MESH:C536639"^^xsd:string) AnnotationAssertion( "Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism"^^xsd:string) AnnotationAssertion( "Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007232"^^xsd:string) AnnotationAssertion(rdfs:label "Schrander-Stumpel Theunissen Hulsmans Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deafness, with Smith-Magenis Syndrome) AnnotationAssertion( "RDO:9000633"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007233"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, with Smith-Magenis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carotid Artery Dissection, Internal) AnnotationAssertion(Annotation( "MESH:D020215"^^xsd:string) "The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation."^^xsd:string) AnnotationAssertion( "RDO:0007354"^^xsd:string) AnnotationAssertion( "MESH:D020215"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007234"^^xsd:string) AnnotationAssertion(rdfs:label "Carotid Artery Dissection, Internal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hydatidiform Mole, Recurrent, 4) AnnotationAssertion( "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-4 (HYDM4) is caused by homozygous mutation in the C11ORF80 gene on chromosome 11q13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-17T12:54:42Z"^^xsd:string) AnnotationAssertion( "MIM:618432"^^xsd:string) AnnotationAssertion( "HYDM4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007235"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole, Recurrent, 4"^^xsd:string) SubClassOf( ) # Class: (Rhinophyma) AnnotationAssertion(Annotation( "MESH:D012224"^^xsd:string) "A manifestation of severe ROSACEA resulting in significant enlargement of the NOSE and occurring primarily in men. It is caused by hypertrophy of the SEBACEOUS GLANDS and surrounding CONNECTIVE TISSUE. The nose is reddened and marked with TELANGIECTASIS."^^xsd:string) AnnotationAssertion( "MESH:D012224"^^xsd:string) AnnotationAssertion( "Rhinophymas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007236"^^xsd:string) AnnotationAssertion(rdfs:label "Rhinophyma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Angel Shaped Phalangoepiphyseal Dysplasia) AnnotationAssertion( "MIM:105835"^^xsd:string) AnnotationAssertion( "MESH:C536361"^^xsd:string) AnnotationAssertion( "ASPED"^^xsd:string) AnnotationAssertion( "Angel-shaped phalango-epiphyseal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007237"^^xsd:string) AnnotationAssertion(rdfs:label "Angel Shaped Phalangoepiphyseal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness) AnnotationAssertion( "MIM:274205"^^xsd:string) AnnotationAssertion( "MESH:C564769"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007238"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pulmonic Stenosis and Congenital Nephrosis) AnnotationAssertion( "MIM:265600"^^xsd:string) AnnotationAssertion( "MESH:C562895"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007239"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonic Stenosis and Congenital Nephrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Imerslund-Grasbeck Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-19T06:48:09Z"^^xsd:string) AnnotationAssertion( "MIM:618882"^^xsd:string) AnnotationAssertion( "IGS2"^^xsd:string) AnnotationAssertion( "MGA1 Norwegian type"^^xsd:string) AnnotationAssertion( "megaloblastic anemia, Norwegian type"^^xsd:string) AnnotationAssertion( "megaloblastic anemia-1, Norwegian type"^^xsd:string) AnnotationAssertion( "Intestinal cobalamin malabsorption due to AMN mutation"^^xsd:string) AnnotationAssertion( "Intestinal cobalamin malabsorption, AMN-related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007240"^^xsd:string) AnnotationAssertion(rdfs:label "Imerslund-Grasbeck Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Otorhinolaryngologic Diseases) AnnotationAssertion(Annotation( "MESH:D010038"^^xsd:string) "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."^^xsd:string) AnnotationAssertion( "EFO:0009479"^^xsd:string) AnnotationAssertion( "MESH:D010038"^^xsd:string) AnnotationAssertion( "ENT Disease"^^xsd:string) AnnotationAssertion( "ENT diseases"^^xsd:string) AnnotationAssertion( "Otolaryngologic Disease"^^xsd:string) AnnotationAssertion( "Otolaryngologic Diseases"^^xsd:string) AnnotationAssertion( "Otolaryngological Disease"^^xsd:string) AnnotationAssertion( "Otolaryngological Diseases"^^xsd:string) AnnotationAssertion( "Otorhinolaryngological Disease"^^xsd:string) AnnotationAssertion( "Otorhinolaryngological Diseases"^^xsd:string) AnnotationAssertion( "otorhinolaryngologic disease"^^xsd:string) AnnotationAssertion( "throat disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007241"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Otorhinolaryngologic Diseases"^^xsd:string) SubClassOf( ) # Class: (Spondyloepiphyseal Dysplasia Tarda, Toledo Type) AnnotationAssertion( "MIM:271630"^^xsd:string) AnnotationAssertion( "MESH:C535787"^^xsd:string) AnnotationAssertion( "BCYM1B"^^xsd:string) AnnotationAssertion( "Paps-Chondroitin Sulfate Sulfotransferase Deficiency"^^xsd:string) AnnotationAssertion( "SED, chondroitin sulfate type"^^xsd:string) AnnotationAssertion( "Spondyloepiphyseal dysplasia, chondroitin sulfate type"^^xsd:string) AnnotationAssertion( "Toledo type brachyolmia"^^xsd:string) AnnotationAssertion( "brachyolmia type 1, Toledo type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007242"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloepiphyseal Dysplasia Tarda, Toledo Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Flavimonas Oryzihabitans Bacteremia) AnnotationAssertion( "MESH:C537061"^^xsd:string) AnnotationAssertion( "RDO:0002822"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007243"^^xsd:string) AnnotationAssertion(rdfs:label "Flavimonas Oryzihabitans Bacteremia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Paramyxoviridae Infections) AnnotationAssertion(Annotation( "MESH:D018184"^^xsd:string) "Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS."^^xsd:string) AnnotationAssertion( "EFO:0007419"^^xsd:string) AnnotationAssertion( "MESH:D018184"^^xsd:string) AnnotationAssertion( "RDO:0006283"^^xsd:string) AnnotationAssertion( "Parainfluenza"^^xsd:string) AnnotationAssertion( "Parainfluenza Virus Infection"^^xsd:string) AnnotationAssertion( "Parainfluenza Virus Infections"^^xsd:string) AnnotationAssertion( "Paramyxoviridae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007244"^^xsd:string) AnnotationAssertion(rdfs:label "Paramyxoviridae Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 17 Ring) AnnotationAssertion( "MESH:C538046"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007246"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17 Ring"^^xsd:string) SubClassOf( ) # Class: (Piepkorn Karp Hickok syndrome) AnnotationAssertion( "MESH:C535774"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007247"^^xsd:string) AnnotationAssertion(rdfs:label "Piepkorn Karp Hickok syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Weill-Marchesani Syndrome 3) AnnotationAssertion( "MIM:614819"^^xsd:string) AnnotationAssertion( "WMS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007248"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani Syndrome 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Dysplasia without Hypotrichosis) AnnotationAssertion( "MIM:250460"^^xsd:string) AnnotationAssertion( "MESH:C563574"^^xsd:string) AnnotationAssertion( "CHHV"^^xsd:string) AnnotationAssertion( "Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only"^^xsd:string) AnnotationAssertion( "Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency"^^xsd:string) AnnotationAssertion( "MDWH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007249"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Dysplasia without Hypotrichosis"^^xsd:string) SubClassOf( ) # Class: (Complex Cortical Dysplasia with Other Brain Malformations 11) AnnotationAssertion(Annotation( "MIM:620156"^^xsd:string) "An autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects. Caused by homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T08:47:40Z"^^xsd:string) AnnotationAssertion( "MIM:620156"^^xsd:string) AnnotationAssertion( "CDCBM11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007250"^^xsd:string) AnnotationAssertion(rdfs:label "Complex Cortical Dysplasia with Other Brain Malformations 11"^^xsd:string) SubClassOf( ) # Class: (Hyperesthesia) AnnotationAssertion(Annotation( "MESH:D006941"^^xsd:string) "Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli."^^xsd:string) AnnotationAssertion( "MESH:D006941"^^xsd:string) AnnotationAssertion( "Hyperesthetic Sensation"^^xsd:string) AnnotationAssertion( "Hyperesthetic Sensations"^^xsd:string) AnnotationAssertion( "Oxyesthesia"^^xsd:string) AnnotationAssertion( "Oxyesthesias"^^xsd:string) AnnotationAssertion( "Tactile Hyperesthesia"^^xsd:string) AnnotationAssertion( "Tactile Hyperesthesias"^^xsd:string) AnnotationAssertion( "Thermal Hyperesthesia"^^xsd:string) AnnotationAssertion( "hyperesthesias"^^xsd:string) AnnotationAssertion( "thermal hyperesthesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007251"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperesthesia"^^xsd:string) SubClassOf( ) # Class: (Gastric Mucosa-Associated Lymphoid Tissue Lymphoma) AnnotationAssertion(Annotation( "NCI:C5266"^^xsd:string) "Ths is a low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-23T17:01:55Z"^^xsd:string) AnnotationAssertion( "EFO:1000274"^^xsd:string) AnnotationAssertion( "MALT lymphoma of stomach"^^xsd:string) AnnotationAssertion( "MALToma of stomach"^^xsd:string) AnnotationAssertion( "gastric MALT lymphoma"^^xsd:string) AnnotationAssertion( "gastric MALToma"^^xsd:string) AnnotationAssertion( "primary MALT lymphoma of stomach"^^xsd:string) AnnotationAssertion( "primary gastric MALT lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007252"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Mucosa-Associated Lymphoid Tissue Lymphoma"^^xsd:string) SubClassOf( ) # Class: (Hamartoma) AnnotationAssertion(Annotation( "MESH:D006222"^^xsd:string) "A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area."^^xsd:string) AnnotationAssertion( "EFO:1000175"^^xsd:string) AnnotationAssertion( "EFO:1000193"^^xsd:string) AnnotationAssertion( "EFO:1000280"^^xsd:string) AnnotationAssertion( "EFO:1000634"^^xsd:string) AnnotationAssertion( "MESH:D006222"^^xsd:string) AnnotationAssertion( "Hamartomas"^^xsd:string) AnnotationAssertion( "Chondroid Hamartoma"^^xsd:string) AnnotationAssertion( "Colorectal Hamartoma"^^xsd:string) AnnotationAssertion( "Gastrointestinal Hamartoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007253"^^xsd:string) AnnotationAssertion(rdfs:label "Hamartoma"^^xsd:string) SubClassOf( ) # Class: (Lumbar Stenosis, Familial) AnnotationAssertion( "MIM:152550"^^xsd:string) AnnotationAssertion( "MESH:C563613"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007254"^^xsd:string) AnnotationAssertion(rdfs:label "Lumbar Stenosis, Familial"^^xsd:string) SubClassOf( ) # Class: (Variegate Porphyria, Childhood-Onset) AnnotationAssertion(Annotation( "MIM:620483"^^xsd:string) "A rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. Caused by homozygous or compound heterozygous mutation in the protoporphyrinogen oxidase gene (PPOX) on chromosome 1q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:27:53Z"^^xsd:string) AnnotationAssertion( "MIM:620483"^^xsd:string) AnnotationAssertion( "VPCO"^^xsd:string) AnnotationAssertion( "Variegate Porphyria, homozygous variant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007255"^^xsd:string) AnnotationAssertion(rdfs:label "Variegate Porphyria, Childhood-Onset"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 12) AnnotationAssertion( "MIM:611868"^^xsd:string) AnnotationAssertion( "MESH:C567510"^^xsd:string) AnnotationAssertion( "Hpc12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007256"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 12"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Hypocalcemia, with Bartter Syndrome) AnnotationAssertion( "MESH:C563374"^^xsd:string) AnnotationAssertion( "autosomal dominant hypocalcemia 1, with Bartter syndrome"^^xsd:string) AnnotationAssertion( "HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007257"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Hypocalcemia, with Bartter Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Methylmalonyl-Coenzyme A Mutase Deficiency) AnnotationAssertion( "MESH:C537573"^^xsd:string) AnnotationAssertion( "RDO:0003437"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007259"^^xsd:string) AnnotationAssertion(rdfs:label "Methylmalonyl-Coenzyme A Mutase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Prostatism) AnnotationAssertion(Annotation( "MESH:D053448"^^xsd:string) "Lower urinary tract symptom, such as slow urinary stream, associated with PROSTATIC HYPERPLASIA in older men."^^xsd:string) AnnotationAssertion( "MESH:D053448"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007260"^^xsd:string) AnnotationAssertion(rdfs:label "Prostatism"^^xsd:string) SubClassOf( ) # Class: (Nonsyndromic Trigonocephaly) AnnotationAssertion( "EFO:0008511"^^xsd:string) AnnotationAssertion( "MESH:C562951"^^xsd:string) AnnotationAssertion( "MIM:PS190440"^^xsd:string) AnnotationAssertion( "metopic craniosynostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007261"^^xsd:string) AnnotationAssertion(rdfs:label "Nonsyndromic Trigonocephaly"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 124) AnnotationAssertion(Annotation( "MIM:620794"^^xsd:string) "This is a disease characterized by congenital nonsyndromic progressive sensorineural hearing loss."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-10T17:36:25Z"^^xsd:string) AnnotationAssertion( "MIM:620794"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 124"^^xsd:string) AnnotationAssertion( "DFNB124"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007262"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 124"^^xsd:string) SubClassOf( ) # Class: (Cyanosis and Hepatic Disease) AnnotationAssertion( "MIM:219400"^^xsd:string) AnnotationAssertion( "MESH:C565660"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007263"^^xsd:string) AnnotationAssertion(rdfs:label "Cyanosis and Hepatic Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chitty Hall Webb Syndrome) AnnotationAssertion( "MESH:C535929"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007264"^^xsd:string) AnnotationAssertion(rdfs:label "Chitty Hall Webb Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hip Fractures) AnnotationAssertion(Annotation( "MESH:D006620"^^xsd:string) "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)."^^xsd:string) AnnotationAssertion( "EFO:0003964"^^xsd:string) AnnotationAssertion( "MESH:D006620"^^xsd:string) AnnotationAssertion( "Intertrochanteric Fractures"^^xsd:string) AnnotationAssertion( "Subtrochanteric Fractures"^^xsd:string) AnnotationAssertion( "Trochanteric Fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007265"^^xsd:string) AnnotationAssertion(rdfs:label "Hip Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Satoyoshi Syndrome) AnnotationAssertion( "MIM:600705"^^xsd:string) AnnotationAssertion( "MESH:C536616"^^xsd:string) AnnotationAssertion( "Intermittent muscle spasms with alopecia, diarrhea, and skeletal abnormalities"^^xsd:string) AnnotationAssertion( "Komuragaeri Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007266"^^xsd:string) AnnotationAssertion(rdfs:label "Satoyoshi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cocarcinogenesis) AnnotationAssertion(Annotation( "MESH:D003043"^^xsd:string) "The combination of two or more different factors in the production of cancer."^^xsd:string) AnnotationAssertion( "MESH:D003043"^^xsd:string) AnnotationAssertion( "Cocarcinogeneses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007267"^^xsd:string) AnnotationAssertion(rdfs:label "Cocarcinogenesis"^^xsd:string) SubClassOf( ) # Class: (Wilms Tumor 6) AnnotationAssertion( "MIM:616806"^^xsd:string) AnnotationAssertion( "WT6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007268"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor 6"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Freire-Maia Odontotrichomelic Syndrome) AnnotationAssertion( "MIM:273400"^^xsd:string) AnnotationAssertion( "MESH:C535637"^^xsd:string) AnnotationAssertion( "Odontotrichomelic hypohidrotic dysplasia"^^xsd:string) AnnotationAssertion( "TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007270"^^xsd:string) AnnotationAssertion(rdfs:label "Freire-Maia Odontotrichomelic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypoalbuminemia) AnnotationAssertion(Annotation( "MESH:D034141"^^xsd:string) "A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA)."^^xsd:string) AnnotationAssertion( "MESH:D034141"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007271"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoalbuminemia"^^xsd:string) SubClassOf( ) # Class: (Infantile Liver Failure Syndrome 2) AnnotationAssertion( "NBAS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616483"^^xsd:string) AnnotationAssertion( "NCI:C158135"^^xsd:string) AnnotationAssertion( "FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME"^^xsd:string) AnnotationAssertion( "ILFS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007272"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Liver Failure Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Pneumopericardium) AnnotationAssertion(Annotation( "MESH:D011026"^^xsd:string) "Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins."^^xsd:string) AnnotationAssertion( "EFO:1001400"^^xsd:string) AnnotationAssertion( "MESH:D011026"^^xsd:string) AnnotationAssertion( "Pneumopericardiums"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007273"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumopericardium"^^xsd:string) SubClassOf( ) # Class: (Sweat Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D013544"^^xsd:string) "New abnormal growth of tissue in the SWEAT GLANDS."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-04-21T08:33:18Z"^^xsd:string) AnnotationAssertion( "EFO:1001204"^^xsd:string) AnnotationAssertion( "MESH:D013544"^^xsd:string) AnnotationAssertion( "NCI:C3398"^^xsd:string) AnnotationAssertion( "neoplasm of sweat gland"^^xsd:string) AnnotationAssertion( "sweat gland neoplasms"^^xsd:string) AnnotationAssertion( "sweat gland tumor"^^xsd:string) AnnotationAssertion( "tumor of the sweat gland"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007274"^^xsd:string) AnnotationAssertion(rdfs:label "Sweat Gland Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Fascial Dystrophy) AnnotationAssertion( "MIM:228020"^^xsd:string) AnnotationAssertion( "MESH:C563219"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007275"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Fascial Dystrophy"^^xsd:string) SubClassOf( ) # Class: (Diffuse Esophageal Spasm) AnnotationAssertion(Annotation( "MESH:D015155"^^xsd:string) "A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA."^^xsd:string) AnnotationAssertion( "RDO:0006844"^^xsd:string) AnnotationAssertion( "EFO:1001785"^^xsd:string) AnnotationAssertion( "MESH:D015155"^^xsd:string) AnnotationAssertion( "Diffuse Esophageal Spasms"^^xsd:string) AnnotationAssertion( "Esophageal Spasm"^^xsd:string) AnnotationAssertion( "Esophageal Spasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007276"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Esophageal Spasm"^^xsd:string) SubClassOf( ) # Class: (Split-Hand and Split-Foot With Hypodontia) AnnotationAssertion( "MIM:183500"^^xsd:string) AnnotationAssertion( "MESH:C566665"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007277"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Hand and Split-Foot With Hypodontia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anaphylaxis) AnnotationAssertion(Annotation( "MESH:D000707"^^xsd:string) "An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death."^^xsd:string) AnnotationAssertion( "EFO:0020918"^^xsd:string) AnnotationAssertion( "MESH:D000707"^^xsd:string) AnnotationAssertion( "Anaphylactic Reaction"^^xsd:string) AnnotationAssertion( "Anaphylactic Reactions"^^xsd:string) AnnotationAssertion( "Anaphylactic Shock"^^xsd:string) AnnotationAssertion( "non-allergic anaphylaxis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007278"^^xsd:string) AnnotationAssertion(rdfs:label "Anaphylaxis"^^xsd:string) SubClassOf( ) # Class: (Type 2 Diabetes Mellitus 1) AnnotationAssertion( "MIM:601283"^^xsd:string) AnnotationAssertion( "MESH:C563359"^^xsd:string) AnnotationAssertion( "NIDDM1"^^xsd:string) AnnotationAssertion( "T2D1"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9007279"^^xsd:string) AnnotationAssertion(rdfs:label "Type 2 Diabetes Mellitus 1"^^xsd:string) SubClassOf( ) # Class: (Cognitive Function 1, Social) AnnotationAssertion( "MIM:300082"^^xsd:string) AnnotationAssertion( "RDO:0008548"^^xsd:string) AnnotationAssertion( "CGF1"^^xsd:string) AnnotationAssertion( "SOCIAL COGNITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007280"^^xsd:string) AnnotationAssertion(rdfs:label "Cognitive Function 1, Social"^^xsd:string) SubClassOf( ) # Class: (Primary Hypertrophic Osteoarthropathy, Autosomal Dominant) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-25T15:10:21Z"^^xsd:string) AnnotationAssertion( "MIM:167100"^^xsd:string) AnnotationAssertion( "PHOAD"^^xsd:string) AnnotationAssertion( "autosomal dominant pachydermoperiostoses"^^xsd:string) AnnotationAssertion( "autosomal dominant pachydermoperiostosis"^^xsd:string) AnnotationAssertion( "primary hypertrophic osteoarthropathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007281"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Hypertrophic Osteoarthropathy, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Huntington's Disease-Like Syndrome) AnnotationAssertion( "MESH:C580174"^^xsd:string) AnnotationAssertion( "RDO:0015896"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like Syndrome"^^xsd:string) AnnotationAssertion( "Huntington Disease-Like Syndromes"^^xsd:string) AnnotationAssertion( "Huntington's Disease Phenocopies"^^xsd:string) AnnotationAssertion( "Huntington's Disease Phenocopy Syndromes"^^xsd:string) AnnotationAssertion( "Huntington's Disease-Like Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007282"^^xsd:string) AnnotationAssertion(rdfs:label "Huntington's Disease-Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Infantile Convulsions and Paroxysmal Choreoathetosis) AnnotationAssertion( "MIM:602066"^^xsd:string) AnnotationAssertion( "MESH:C535522"^^xsd:string) AnnotationAssertion( "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS"^^xsd:string) AnnotationAssertion( "ICCA"^^xsd:string) AnnotationAssertion( "ICCA syndrome"^^xsd:string) AnnotationAssertion( "PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS"^^xsd:string) AnnotationAssertion( "PKD/IC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007283"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Infantile Convulsions and Paroxysmal Choreoathetosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Precocious Puberty) AnnotationAssertion(Annotation( "MESH:D011629"^^xsd:string) "Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE."^^xsd:string) AnnotationAssertion( "MESH:D011629"^^xsd:string) AnnotationAssertion( "PERIPHERAL PRECOCIOUS PUBERTY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007284"^^xsd:string) AnnotationAssertion(rdfs:label "Precocious Puberty"^^xsd:string) SubClassOf( ) # Class: (Primary Ovarian Insufficiency 21) AnnotationAssertion(Annotation( "MIM:620311"^^xsd:string) "A female infertility due to primary or secondary amenorrhea. Caused by heterozygous mutation in the TP63 gene on chromosome 3q28."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-07T09:55:58Z"^^xsd:string) AnnotationAssertion( "MIM:620311"^^xsd:string) AnnotationAssertion( "POF21"^^xsd:string) AnnotationAssertion( "PREMATURE OVARIAN FAILURE 21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007285"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ovarian Insufficiency 21"^^xsd:string) SubClassOf( ) # Class: (Chromosome 2, Trisomy 2q) AnnotationAssertion( "MESH:C535367"^^xsd:string) AnnotationAssertion( "RDO:0000449"^^xsd:string) AnnotationAssertion( "Duplication 2q"^^xsd:string) AnnotationAssertion( "Trisomy 2q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007286"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 2, Trisomy 2q"^^xsd:string) SubClassOf( ) # Class: (Pityriasis) AnnotationAssertion(Annotation( "MESH:D010915"^^xsd:string) "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D010915"^^xsd:string) AnnotationAssertion( "Pityriases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007287"^^xsd:string) AnnotationAssertion(rdfs:label "Pityriasis"^^xsd:string) SubClassOf( ) # Class: (Left Ventricular Noncompaction 1) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "MIM:604169"^^xsd:string) AnnotationAssertion( "LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS"^^xsd:string) AnnotationAssertion( "LVNC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007288"^^xsd:string) AnnotationAssertion(rdfs:label "Left Ventricular Noncompaction 1"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Hyperbilirubinemia, Shunt) AnnotationAssertion( "MIM:237800"^^xsd:string) AnnotationAssertion( "MESH:C562451"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007289"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperbilirubinemia, Shunt"^^xsd:string) SubClassOf( ) # Class: (Traumatic Subarachnoid Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020206"^^xsd:string) "Bleeding into the SUBARACHNOID SPACE due to CRANIOCEREBRAL TRAUMA. Minor hemorrhages may be asymptomatic; moderate to severe hemorrhages may be associated with INTRACRANIAL HYPERTENSION and VASOSPASM, INTRACRANIAL."^^xsd:string) AnnotationAssertion( "MESH:D020206"^^xsd:string) AnnotationAssertion( "Post Traumatic Subarachnoid Hemorrhage"^^xsd:string) AnnotationAssertion( "Post-Traumatic Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "Traumatic Subarachnoid Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007290"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Subarachnoid Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anencephaly 2) AnnotationAssertion( "A severe neural tube defect caused by failure of neural tube closure anteriorly. Caused by homozygous mutation in the NUAK2 gene on chromosome 1q32. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T14:28:21Z"^^xsd:string) AnnotationAssertion( "MIM:619452"^^xsd:string) AnnotationAssertion( "ANPH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007291"^^xsd:string) AnnotationAssertion(rdfs:label "Anencephaly 2"^^xsd:string) SubClassOf( ) # Class: (Schwartz-Lelek Syndrome) AnnotationAssertion( "MESH:C537519"^^xsd:string) AnnotationAssertion( "MIM:269300"^^xsd:string) AnnotationAssertion( "MONDO:0010014"^^xsd:string) AnnotationAssertion( "ORDO:85184"^^xsd:string) AnnotationAssertion( "craniometadiaphyseal dysplasia"^^xsd:string) AnnotationAssertion( "craniometadiaphyseal dysplasia, wormian bone type"^^xsd:string) AnnotationAssertion( "genetic craniotubular bone dysplasias and hyperostoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007292"^^xsd:string) AnnotationAssertion(rdfs:label "Schwartz-Lelek Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Euglenozoa Infections) AnnotationAssertion(Annotation( "MESH:D056986"^^xsd:string) "Infections with the protozoa of the phylum EUGLENOZOA."^^xsd:string) AnnotationAssertion( "EFO:1001319"^^xsd:string) AnnotationAssertion( "MESH:D056986"^^xsd:string) AnnotationAssertion( "Euglenozoa Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007293"^^xsd:string) AnnotationAssertion(rdfs:label "Euglenozoa Infections"^^xsd:string) SubClassOf( ) # Class: (Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus) AnnotationAssertion( "MESH:C567188"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007294"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postpericardiotomy Syndrome) AnnotationAssertion(Annotation( "MESH:D011185"^^xsd:string) "A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN."^^xsd:string) AnnotationAssertion( "EFO:1001404"^^xsd:string) AnnotationAssertion( "MESH:D011185"^^xsd:string) AnnotationAssertion( "Postcommissurotomy Syndrome"^^xsd:string) AnnotationAssertion( "Postcommissurotomy Syndromes"^^xsd:string) AnnotationAssertion( "Postpericardiotomy Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007295"^^xsd:string) AnnotationAssertion(rdfs:label "Postpericardiotomy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Right Bundle Branch Block, Familial Isolated Complete) AnnotationAssertion( "MIM:113950"^^xsd:string) AnnotationAssertion( "MESH:C562759"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007296"^^xsd:string) AnnotationAssertion(rdfs:label "Right Bundle Branch Block, Familial Isolated Complete"^^xsd:string) SubClassOf( ) # Class: (Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts) AnnotationAssertion( "MIM:603587"^^xsd:string) AnnotationAssertion( "MESH:C566360"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007297"^^xsd:string) AnnotationAssertion(rdfs:label "Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lymphedema of the Lower Extremities, Recurrent Pneumonia, Bronchiectasis, and Yellowed Nails) AnnotationAssertion( "MESH:C538678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007298"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphedema of the Lower Extremities, Recurrent Pneumonia, Bronchiectasis, and Yellowed Nails"^^xsd:string) SubClassOf( ) # Class: (Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:26:07Z"^^xsd:string) AnnotationAssertion( "MIM:PS301108"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007299"^^xsd:string) AnnotationAssertion(rdfs:label "Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Urinary Incontinence, Urge) AnnotationAssertion(Annotation( "MESH:D053202"^^xsd:string) "Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability)."^^xsd:string) AnnotationAssertion( "EFO:0006865"^^xsd:string) AnnotationAssertion( "MESH:D053202"^^xsd:string) AnnotationAssertion( "RDO:0007611"^^xsd:string) AnnotationAssertion( "Urge Incontinence"^^xsd:string) AnnotationAssertion( "Urinary Reflex Incontinence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007300"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Incontinence, Urge"^^xsd:string) SubClassOf( ) # Class: (Insect Bites and Stings) AnnotationAssertion(Annotation( "MESH:D007299"^^xsd:string) "Bites and stings inflicted by insects."^^xsd:string) AnnotationAssertion( "MESH:D007299"^^xsd:string) AnnotationAssertion( "insect bite"^^xsd:string) AnnotationAssertion( "insect bites"^^xsd:string) AnnotationAssertion( "insect sting"^^xsd:string) AnnotationAssertion( "insect stings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007301"^^xsd:string) AnnotationAssertion(rdfs:label "Insect Bites and Stings"^^xsd:string) SubClassOf( ) # Class: (Vitreous Hemorrhage) AnnotationAssertion(Annotation( "MESH:D014823"^^xsd:string) "Hemorrhage into the VITREOUS BODY."^^xsd:string) AnnotationAssertion( "EFO:0008626"^^xsd:string) AnnotationAssertion( "MESH:D014823"^^xsd:string) AnnotationAssertion( "RDO:0006814"^^xsd:string) AnnotationAssertion( "Vitreous Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007302"^^xsd:string) AnnotationAssertion(rdfs:label "Vitreous Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Short Stature, Autosomal) AnnotationAssertion( "MIM:604271"^^xsd:string) AnnotationAssertion( "MESH:C565805"^^xsd:string) AnnotationAssertion( "GHIP"^^xsd:string) AnnotationAssertion( "GROWTH HORMONE INSENSITIVITY, PARTIAL"^^xsd:string) AnnotationAssertion( "Growth Hormone, Insensitivity To, Partial"^^xsd:string) AnnotationAssertion( "partial isolated growth hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007303"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Short Stature, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Singleton Merten Syndrome) AnnotationAssertion( "MESH:C537343"^^xsd:string) AnnotationAssertion( "MIM:PS182250"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007304"^^xsd:string) AnnotationAssertion(rdfs:label "Singleton Merten Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Renal Hypophosphatemia with Intracerebral Calcifications) AnnotationAssertion( "MIM:241519"^^xsd:string) AnnotationAssertion( "MESH:C565478"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007305"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypophosphatemia with Intracerebral Calcifications"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Failed Back Surgery Syndrome) AnnotationAssertion(Annotation( "MESH:D055111"^^xsd:string) "A condition of persistent pain and discomfort in the BACK and the LEG following lumbar surgery, often seen in patients enrolled in pain centers."^^xsd:string) AnnotationAssertion( "MESH:D055111"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007306"^^xsd:string) AnnotationAssertion(rdfs:label "Failed Back Surgery Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Blue Diaper Syndrome) AnnotationAssertion( "MIM:211000"^^xsd:string) AnnotationAssertion( "GARD:5939"^^xsd:string) AnnotationAssertion( "MESH:C536239"^^xsd:string) AnnotationAssertion( "ORDO:94086"^^xsd:string) AnnotationAssertion( "Drummond syndrome"^^xsd:string) AnnotationAssertion( "familial hypercalcemia with nephrocalcinosis and indicanuria"^^xsd:string) AnnotationAssertion( "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007307"^^xsd:string) AnnotationAssertion(rdfs:label "Blue Diaper Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Lobar Emphysema) AnnotationAssertion( "MIM:130710"^^xsd:string) AnnotationAssertion( "MESH:C535735"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007308"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Lobar Emphysema"^^xsd:string) SubClassOf( ) # Class: (Craniorhiny) AnnotationAssertion( "MIM:123050"^^xsd:string) AnnotationAssertion( "MESH:C565144"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007309"^^xsd:string) AnnotationAssertion(rdfs:label "Craniorhiny"^^xsd:string) SubClassOf( ) # Class: (Foot Diseases) AnnotationAssertion(Annotation( "MESH:D005534"^^xsd:string) "Anatomical and functional disorders affecting the foot."^^xsd:string) AnnotationAssertion( "MESH:D005534"^^xsd:string) AnnotationAssertion( "Foot Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007310"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Platelet Factor 3 Deficiency) AnnotationAssertion( "MIM:173450"^^xsd:string) AnnotationAssertion( "MESH:C566798"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007311"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Factor 3 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria) AnnotationAssertion( "MIM:258470"^^xsd:string) AnnotationAssertion( "MESH:C564925"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007312"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Triphalangeal Thumb with Double Phalanges) AnnotationAssertion( "MIM:190500"^^xsd:string) AnnotationAssertion( "MESH:C566028"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007313"^^xsd:string) AnnotationAssertion(rdfs:label "Triphalangeal Thumb with Double Phalanges"^^xsd:string) SubClassOf( ) # Class: (Goldblatt Viljoen Syndrome) AnnotationAssertion( "MESH:C537280"^^xsd:string) AnnotationAssertion( "Autosomal dominant radial ray hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "Goldblatt Viljoen radial ray hypoplasia"^^xsd:string) AnnotationAssertion( "Radial ray hypoplasia with choanal hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007314"^^xsd:string) AnnotationAssertion(rdfs:label "Goldblatt Viljoen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Methicillin-Resistant Staphylococcus Aureus Infection) AnnotationAssertion(Annotation( "MESH:D055624"^^xsd:string) "These are infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic methicillin. The mechanism of resistance usually involves modification of penicillin binding proteins"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T15:09:42Z"^^xsd:string) AnnotationAssertion( "EFO:0008555"^^xsd:string) AnnotationAssertion( "Infection, MRSA"^^xsd:string) AnnotationAssertion( "MRSA bacteremia"^^xsd:string) AnnotationAssertion( "MRSA bacteremias"^^xsd:string) AnnotationAssertion( "MRSA infection"^^xsd:string) AnnotationAssertion( "infection by MRSA"^^xsd:string) AnnotationAssertion( "methicillin-resistant staphylococcus aureus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007315"^^xsd:string) AnnotationAssertion(rdfs:label "Methicillin-Resistant Staphylococcus Aureus Infection"^^xsd:string) SubClassOf( ) # Class: (Hyalohyphomycosis) AnnotationAssertion(Annotation( "MESH:D060605"^^xsd:string) "OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST."^^xsd:string) AnnotationAssertion( "MESH:D060605"^^xsd:string) AnnotationAssertion( "Cutaneous Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Cutaneous Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "Disseminated Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Disseminated Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Invasive Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Invasive Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "Pulmonary Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Pulmonary Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "Splenic Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Splenic Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "Subcutaneous Hyalohyphomycoses"^^xsd:string) AnnotationAssertion( "Subcutaneous Hyalohyphomycosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007316"^^xsd:string) AnnotationAssertion(rdfs:label "Hyalohyphomycosis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619725"^^xsd:string) "This disease is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-08-01T09:30:34Z"^^xsd:string) AnnotationAssertion( "KCNN2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619725"^^xsd:string) AnnotationAssertion( "NEDMAB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007317"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rowley-Rosenberg Syndrome) AnnotationAssertion( "MIM:268500"^^xsd:string) AnnotationAssertion( "MESH:C535874"^^xsd:string) AnnotationAssertion( "Growth Retardation, Pulmonary Hypertension, and Amino Aciduria"^^xsd:string) AnnotationAssertion( "Growth retardation, pulmonary hypertension, and aminoaciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007318"^^xsd:string) AnnotationAssertion(rdfs:label "Rowley-Rosenberg Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Joubert Syndrome 37) AnnotationAssertion( "An autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Caused by homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-23T08:45:29Z"^^xsd:string) AnnotationAssertion( "MIM:619185"^^xsd:string) AnnotationAssertion( "JBTS37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007319"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 37"^^xsd:string) SubClassOf( ) # Class: (Squamous Intraepithelial Lesions) AnnotationAssertion(Annotation( "MESH:D000081483"^^xsd:string) "A cytological test finding that shows abnormal lesions of SQUAMOUS EPITHELIAL cells."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T13:26:21Z"^^xsd:string) AnnotationAssertion( "MESH:D000081483"^^xsd:string) AnnotationAssertion( "HSIL"^^xsd:string) AnnotationAssertion( "High-Grade Squamous Intraepithelial Lesions"^^xsd:string) AnnotationAssertion( "LSIL"^^xsd:string) AnnotationAssertion( "Low-Grade Squamous Intraepithelial Lesions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007320"^^xsd:string) AnnotationAssertion(rdfs:label "Squamous Intraepithelial Lesions"^^xsd:string) SubClassOf( ) # Class: (knee fractures) AnnotationAssertion(Annotation( "NCI:C27201"^^xsd:string) "These are traumatic breaks in one or more of the bones that compose the knee joint."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-02T15:00:43Z"^^xsd:string) AnnotationAssertion( "EFO:0009617"^^xsd:string) AnnotationAssertion( "knee fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007321"^^xsd:string) AnnotationAssertion(rdfs:label "knee fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polydysspondyly) AnnotationAssertion( "MESH:C565150"^^xsd:string) AnnotationAssertion( "RDO:0013875"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007322"^^xsd:string) AnnotationAssertion(rdfs:label "Polydysspondyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parasitic Infection caused by Dracunculus Medinensis) AnnotationAssertion( "MESH:C548841"^^xsd:string) AnnotationAssertion( "RDO:0004678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007323"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Infection caused by Dracunculus Medinensis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY) AnnotationAssertion(Annotation( "MIM:619972"^^xsd:string) "This disease is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-15T10:38:32Z"^^xsd:string) AnnotationAssertion( "MIM:619972"^^xsd:string) AnnotationAssertion( "NCI:C192636"^^xsd:string) AnnotationAssertion( "NEDMLHB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007324"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cardio-Renal Syndrome) AnnotationAssertion(Annotation( "MESH:D059347"^^xsd:string) "Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY)."^^xsd:string) AnnotationAssertion( "MESH:D059347"^^xsd:string) AnnotationAssertion( "Cardio-Renal Syndromes"^^xsd:string) AnnotationAssertion( "Cardiorenal Syndrome"^^xsd:string) AnnotationAssertion( "Cardiorenal Syndromes"^^xsd:string) AnnotationAssertion( "Reno Cardiac Syndrome"^^xsd:string) AnnotationAssertion( "Reno-Cardiac Syndromes"^^xsd:string) AnnotationAssertion( "Renocardiac Syndrome"^^xsd:string) AnnotationAssertion( "Renocardiac Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007325"^^xsd:string) AnnotationAssertion(rdfs:label "Cardio-Renal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant) AnnotationAssertion( "MIM:605463"^^xsd:string) AnnotationAssertion( "MESH:C565326"^^xsd:string) AnnotationAssertion( "RDO:0013996"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007326"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cardiofacioneurodevelopmental Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-10T10:18:25Z"^^xsd:string) AnnotationAssertion( "MIM:619123"^^xsd:string) AnnotationAssertion( "CFNDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007327"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiofacioneurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Multiple Pulmonary Nodules) AnnotationAssertion(Annotation( "MESH:D055613"^^xsd:string) "A number of small lung lesions characterized by small round masses of 2- to 3-mm in diameter. They are usually detected by chest CT scans (COMPUTED TOMOGRAPHY, X-RAY). Such nodules can be associated with metastases of malignancies inside or outside the lung, benign granulomas, or other lesions."^^xsd:string) AnnotationAssertion( "MESH:D055613"^^xsd:string) AnnotationAssertion( "Multiple Pulmonary Nodule"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007328"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Pulmonary Nodules"^^xsd:string) SubClassOf( ) # Class: (Human Viral Hepatitis) AnnotationAssertion(Annotation( "MESH:D006525"^^xsd:string) "INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D)."^^xsd:string) AnnotationAssertion( "RDO:0005321"^^xsd:string) AnnotationAssertion( "EFO:0004196"^^xsd:string) AnnotationAssertion( "MESH:D006525"^^xsd:string) AnnotationAssertion( "viral human hepatitis infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007329"^^xsd:string) AnnotationAssertion(rdfs:label "Human Viral Hepatitis"^^xsd:string) SubClassOf( ) # Class: (Monomelic Amyotrophy) AnnotationAssertion( "MIM:602440"^^xsd:string) AnnotationAssertion( "EFO:1001989"^^xsd:string) AnnotationAssertion( "MESH:C538253"^^xsd:string) AnnotationAssertion( "Hirayama disease"^^xsd:string) AnnotationAssertion( "juvenile nonprogressive spinal muscular atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007330"^^xsd:string) AnnotationAssertion(rdfs:label "Monomelic Amyotrophy"^^xsd:string) SubClassOf( ) # Class: (Alkalosis) AnnotationAssertion(Annotation( "MESH:D000471"^^xsd:string) "A pathological condition that removes acid or adds base to the body fluids."^^xsd:string) AnnotationAssertion( "MESH:D000471"^^xsd:string) AnnotationAssertion( "Alkaloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007331"^^xsd:string) AnnotationAssertion(rdfs:label "Alkalosis"^^xsd:string) SubClassOf( ) # Class: (Progressive Diaphyseal Dysplasia 1) AnnotationAssertion( "RDO:0004389"^^xsd:string) AnnotationAssertion( "MESH:C538411"^^xsd:string) AnnotationAssertion( "DPD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007332"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Diaphyseal Dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (6q+ Syndrome, Partial) AnnotationAssertion( "MESH:C537810"^^xsd:string) AnnotationAssertion( "RDO:0003714"^^xsd:string) AnnotationAssertion( "Chromosome 6, Trisomy 6q2"^^xsd:string) AnnotationAssertion( "Chromosome 6, partial trisomy 6q"^^xsd:string) AnnotationAssertion( "Distal Duplication 6q"^^xsd:string) AnnotationAssertion( "Trisomy 6q Syndrome, Partial"^^xsd:string) AnnotationAssertion( "Trisomy 6q, Partial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007333"^^xsd:string) AnnotationAssertion(rdfs:label "6q+ Syndrome, Partial"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Small-For-Size Syndrome) AnnotationAssertion( "Any circumstance where there is postoperative liver failure or dysfunction in a patient who has had liver resection or partial or small graft liver transplantation."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007334"^^xsd:string) AnnotationAssertion(rdfs:label "Small-For-Size Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Urinary Fistula) AnnotationAssertion(Annotation( "MESH:D014548"^^xsd:string) "An abnormal passage in any part of the URINARY TRACT between itself or with other organs."^^xsd:string) AnnotationAssertion( "MESH:D014548"^^xsd:string) AnnotationAssertion( "Urinary Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007335"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jet Lag Syndrome) AnnotationAssertion(Annotation( "MESH:D020179"^^xsd:string) "A chronobiologic disorder resulting from rapid travel across a number of time zones, characterized by insomnia or hypersomnolence, fatigue, behavioral symptoms, headaches, and gastrointestinal disturbances. (From Cooper, Sleep, 1994, pp593-8)"^^xsd:string) AnnotationAssertion( "MESH:D020179"^^xsd:string) AnnotationAssertion( "RDO:0007328"^^xsd:string) AnnotationAssertion( "Jet Lag Syndromes"^^xsd:string) AnnotationAssertion( "Time Zone Change Syndrome"^^xsd:string) AnnotationAssertion( "Time Zone Syndrome"^^xsd:string) AnnotationAssertion( "Time Zone Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007336"^^xsd:string) AnnotationAssertion(rdfs:label "Jet Lag Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Teratogenesis) AnnotationAssertion(Annotation( "MESH:D064793"^^xsd:string) "The formation of CONGENITAL ABNORMALITIES."^^xsd:string) AnnotationAssertion( "MESH:D064793"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007337"^^xsd:string) AnnotationAssertion(rdfs:label "Teratogenesis"^^xsd:string) SubClassOf( ) # Class: (Congenital Ectodermal Dysplasia with Hearing Loss) AnnotationAssertion( "MESH:C535757"^^xsd:string) AnnotationAssertion( "RDO:0001047"^^xsd:string) AnnotationAssertion( "Mikaelian syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007338"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Ectodermal Dysplasia with Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alphavirus Infections) AnnotationAssertion(Annotation( "MESH:D018354"^^xsd:string) "Virus diseases caused by members of the ALPHAVIRUS genus of the family TOGAVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007142"^^xsd:string) AnnotationAssertion( "MESH:D018354"^^xsd:string) AnnotationAssertion( "RDO:0001293"^^xsd:string) AnnotationAssertion( "Alpha Virus Infection"^^xsd:string) AnnotationAssertion( "Alpha Virus Infections"^^xsd:string) AnnotationAssertion( "Alphavirus Infection"^^xsd:string) AnnotationAssertion( "Alphavirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007339"^^xsd:string) AnnotationAssertion(rdfs:label "Alphavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Chromosome 14 Trisomy) AnnotationAssertion( "MESH:C535488"^^xsd:string) AnnotationAssertion( "NCI:C116344"^^xsd:string) AnnotationAssertion( "Trisomy 14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007340"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 14 Trisomy"^^xsd:string) SubClassOf( ) # Class: (Persistence of Pupillary Membrane) AnnotationAssertion( "MIM:178900"^^xsd:string) AnnotationAssertion( "MESH:C562700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007341"^^xsd:string) AnnotationAssertion(rdfs:label "Persistence of Pupillary Membrane"^^xsd:string) SubClassOf( ) # Class: (Neonatal Systemic Lupus Erythematosus) AnnotationAssertion( "EFO:0004537"^^xsd:string) AnnotationAssertion( "MESH:C536397"^^xsd:string) AnnotationAssertion( "Neonatal lupus"^^xsd:string) AnnotationAssertion( "Neonatal lupus syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007342"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Systemic Lupus Erythematosus"^^xsd:string) SubClassOf( ) # Class: (Fistula) AnnotationAssertion(Annotation( "MESH:D005402"^^xsd:string) "Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body."^^xsd:string) AnnotationAssertion( "MESH:D005402"^^xsd:string) AnnotationAssertion( "Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007343"^^xsd:string) AnnotationAssertion(rdfs:label "Fistula"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Goat Diseases) AnnotationAssertion(Annotation( "MESH:D015511"^^xsd:string) "Diseases of the domestic or wild goat of the genus Capra."^^xsd:string) AnnotationAssertion( "MESH:D015511"^^xsd:string) AnnotationAssertion( "Caprine Disease"^^xsd:string) AnnotationAssertion( "Caprine Diseases"^^xsd:string) AnnotationAssertion( "Goat Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007345"^^xsd:string) AnnotationAssertion(rdfs:label "Goat Diseases"^^xsd:string) SubClassOf( ) # Class: (Cachexia) AnnotationAssertion(Annotation( "MESH:D002100"^^xsd:string) "General ill health, malnutrition, and weight loss, usually associated with chronic disease."^^xsd:string) AnnotationAssertion( "MESH:D002100"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007346"^^xsd:string) AnnotationAssertion(rdfs:label "Cachexia"^^xsd:string) SubClassOf( ) # Class: (Rickettsia Infections) AnnotationAssertion(Annotation( "MESH:D012282"^^xsd:string) "Infections by the genus RICKETTSIA."^^xsd:string) AnnotationAssertion( "EFO:1001162"^^xsd:string) AnnotationAssertion( "MESH:D012282"^^xsd:string) AnnotationAssertion( "Rickettsia Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007347"^^xsd:string) AnnotationAssertion(rdfs:label "Rickettsia Infections"^^xsd:string) SubClassOf( ) # Class: (Delayed Graft Function) AnnotationAssertion(Annotation( "MESH:D051799"^^xsd:string) "General dysfunction of an organ occurring immediately following its transplantation. The term most frequently refers to renal dysfunction following KIDNEY TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "MESH:D051799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007348"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Graft Function"^^xsd:string) SubClassOf( ) # Class: (Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations) AnnotationAssertion( "MESH:C563429"^^xsd:string) AnnotationAssertion( "RDO:0012688"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007349"^^xsd:string) AnnotationAssertion(rdfs:label "Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vascular Purpura) AnnotationAssertion( "MESH:C537256"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007350"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Purpura"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency) AnnotationAssertion( "RDO:0013324"^^xsd:string) AnnotationAssertion( "congenital muscular dystrophy, LAMA2-related"^^xsd:string) AnnotationAssertion( "MESH:C564317"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007352"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fetomaternal Transfusion) AnnotationAssertion(Annotation( "MESH:D005331"^^xsd:string) "Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001794"^^xsd:string) AnnotationAssertion( "MESH:D005331"^^xsd:string) AnnotationAssertion( "Fetomaternal Hemorrhage"^^xsd:string) AnnotationAssertion( "Fetomaternal Hemorrhages"^^xsd:string) AnnotationAssertion( "Fetomaternal Transfusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007354"^^xsd:string) AnnotationAssertion(rdfs:label "Fetomaternal Transfusion"^^xsd:string) SubClassOf( ) # Class: (Hashimoto Disease) AnnotationAssertion(Annotation( "MESH:D050031"^^xsd:string) "Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM."^^xsd:string) AnnotationAssertion( "MIM:140300"^^xsd:string) AnnotationAssertion( "EFO:0003779"^^xsd:string) AnnotationAssertion( "MESH:D050031"^^xsd:string) AnnotationAssertion( "NCI:C27191"^^xsd:string) AnnotationAssertion( "Chronic Lymphocytic Thyroiditis"^^xsd:string) AnnotationAssertion( "HT"^^xsd:string) AnnotationAssertion( "Hashimoto Struma"^^xsd:string) AnnotationAssertion( "Hashimoto Syndrome"^^xsd:string) AnnotationAssertion( "Hashimoto Thyroiditides"^^xsd:string) AnnotationAssertion( "Hashimoto thyroiditis"^^xsd:string) AnnotationAssertion( "Hashimoto's Struma"^^xsd:string) AnnotationAssertion( "Hashimoto's Syndromes"^^xsd:string) AnnotationAssertion( "Hashimoto's disease"^^xsd:string) AnnotationAssertion( "Hashimoto's syndrome"^^xsd:string) AnnotationAssertion( "Hashimotos Disease"^^xsd:string) AnnotationAssertion( "Hashimotos Syndrome"^^xsd:string) AnnotationAssertion( "chronic lymphocytic thyroiditides"^^xsd:string) AnnotationAssertion( "HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007355"^^xsd:string) AnnotationAssertion(rdfs:label "Hashimoto Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eczema) AnnotationAssertion(Annotation( "MESH:D004485"^^xsd:string) "A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed)."^^xsd:string) AnnotationAssertion( "MESH:D004485"^^xsd:string) AnnotationAssertion( "NCI:C3001"^^xsd:string) AnnotationAssertion( "Eczemas"^^xsd:string) AnnotationAssertion( "Eczematous Dermatitides"^^xsd:string) AnnotationAssertion( "Eczematous Dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007356"^^xsd:string) AnnotationAssertion(rdfs:label "Eczema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Shaken Baby Syndrome) AnnotationAssertion(Annotation( "MESH:D038642"^^xsd:string) "Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death."^^xsd:string) AnnotationAssertion( "EFO:1001423"^^xsd:string) AnnotationAssertion( "MESH:D038642"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007358"^^xsd:string) AnnotationAssertion(rdfs:label "Shaken Baby Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anonychia-Ectrodactyly) AnnotationAssertion( "MIM:106900"^^xsd:string) AnnotationAssertion( "MESH:C566277"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007359"^^xsd:string) AnnotationAssertion(rdfs:label "Anonychia-Ectrodactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Angioedema 5) AnnotationAssertion( "An autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Caused by heterozygous mutation in the ANGPT1 gene on chromosome 8q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-11T12:02:10Z"^^xsd:string) AnnotationAssertion( "MIM:619361"^^xsd:string) AnnotationAssertion( "HAE5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007361"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angioedema 5"^^xsd:string) SubClassOf( ) # Class: (Myopia 16) AnnotationAssertion( "MIM:612554"^^xsd:string) AnnotationAssertion( "MESH:C567259"^^xsd:string) AnnotationAssertion( "MYOPIA 16, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP16"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007362"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 16"^^xsd:string) SubClassOf( ) # Class: (Bronchogenic Cyst) AnnotationAssertion(Annotation( "MESH:D001994"^^xsd:string) "A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea. It is generally found in the mediastinum or lung and is usually asymptomatic unless it becomes infected."^^xsd:string) AnnotationAssertion( "MESH:D001994"^^xsd:string) AnnotationAssertion( "Bronchial Cyst"^^xsd:string) AnnotationAssertion( "Bronchial Cysts"^^xsd:string) AnnotationAssertion( "Bronchogenic Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007363"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchogenic Cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mouth Neoplasms) AnnotationAssertion(Annotation( "MESH:D009062"^^xsd:string) "Tumors or cancer of the MOUTH."^^xsd:string) AnnotationAssertion( "EFO:0003868"^^xsd:string) AnnotationAssertion( "MESH:D009062"^^xsd:string) AnnotationAssertion( "Cancer of Mouth"^^xsd:string) AnnotationAssertion( "Cancer of the Mouth"^^xsd:string) AnnotationAssertion( "Mouth Cancer"^^xsd:string) AnnotationAssertion( "Mouth Cancers"^^xsd:string) AnnotationAssertion( "Mouth Neoplasm"^^xsd:string) AnnotationAssertion( "Oral Cancer"^^xsd:string) AnnotationAssertion( "Oral Cancers"^^xsd:string) AnnotationAssertion( "Oral Neoplasm"^^xsd:string) AnnotationAssertion( "Oral Neoplasms"^^xsd:string) AnnotationAssertion( "MALIGNANT TUMOR OF FLOOR OF MOUTH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007364"^^xsd:string) AnnotationAssertion(rdfs:label "Mouth Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arrhinia) AnnotationAssertion( "MESH:C537438"^^xsd:string) AnnotationAssertion( "congenital absence of the nose"^^xsd:string) AnnotationAssertion( "nose agenesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007365"^^xsd:string) AnnotationAssertion(rdfs:label "Arrhinia"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Artery Stenosis) AnnotationAssertion(Annotation( "MESH:D000071079"^^xsd:string) "Narrowing of the PULMONARY ARTERIES."^^xsd:string) AnnotationAssertion( "RDO:0016078"^^xsd:string) AnnotationAssertion( "MESH:D000071079"^^xsd:string) AnnotationAssertion( "Pulmonary Artery Stenoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007366"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Artery Stenosis"^^xsd:string) SubClassOf( ) # Class: (Septic Peritonitis) AnnotationAssertion( "An inflammatory condition of the peritoneum that occurs secondary to microbial contamination."^^xsd:string) AnnotationAssertion( "EFO:0002623"^^xsd:string) AnnotationAssertion( "Acute Septic Peritonitis"^^xsd:string) AnnotationAssertion( "Chronic Septic Peritonitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007367"^^xsd:string) AnnotationAssertion(rdfs:label "Septic Peritonitis"^^xsd:string) SubClassOf( ) # Class: (Continuous Muscle Fiber Activity, Hereditary) AnnotationAssertion( "MESH:C563545"^^xsd:string) AnnotationAssertion( "RDO:0012773"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007368"^^xsd:string) AnnotationAssertion(rdfs:label "Continuous Muscle Fiber Activity, Hereditary"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Macrotia, and Mental Retardation) AnnotationAssertion( "MIM:602555"^^xsd:string) AnnotationAssertion( "MESH:C566525"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007369"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Macrotia, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Child Behavior Disorders) AnnotationAssertion(Annotation( "MESH:D002653"^^xsd:string) "Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns."^^xsd:string) AnnotationAssertion( "MESH:D002653"^^xsd:string) AnnotationAssertion( "RDO:0000766"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007370"^^xsd:string) AnnotationAssertion(rdfs:label "Child Behavior Disorders"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES) AnnotationAssertion(Annotation( "MIM:619150"^^xsd:string) "An autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-02-15T10:18:21Z"^^xsd:string) AnnotationAssertion( "MIM:619150"^^xsd:string) AnnotationAssertion( "IDDPADS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007371"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Eructation) AnnotationAssertion(Annotation( "MESH:D004884"^^xsd:string) "The ejection of gas or air through the mouth from the stomach."^^xsd:string) AnnotationAssertion( "MESH:D004884"^^xsd:string) AnnotationAssertion( "Belching"^^xsd:string) AnnotationAssertion( "Belchings"^^xsd:string) AnnotationAssertion( "Eructations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007372"^^xsd:string) AnnotationAssertion(rdfs:label "Eructation"^^xsd:string) SubClassOf( ) # Class: (Left Ventricular Outflow Obstruction) AnnotationAssertion( "Occlusion of the outflow tract in the LEFT VENTRICLE of the heart."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:35:57Z"^^xsd:string) AnnotationAssertion( "MESH:D000092242"^^xsd:string) AnnotationAssertion( "Dynamic LVOT Obstruction"^^xsd:string) AnnotationAssertion( "Dynamic Left Ventricular Outflow Tract Obstruction"^^xsd:string) AnnotationAssertion( "LVOT Obstruction"^^xsd:string) AnnotationAssertion( "Left Ventricular Outflow Tract Obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007373"^^xsd:string) AnnotationAssertion(rdfs:label "Left Ventricular Outflow Obstruction"^^xsd:string) SubClassOf( ) # Class: (Benign Conjunctival Neoplasm) AnnotationAssertion(Annotation( "NCI:C3622"^^xsd:string) "This is an abnormal growth of the cells of the conjunctiva without malignant characteristics."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-13T14:11:35Z"^^xsd:string) AnnotationAssertion( "EFO:1000110"^^xsd:string) AnnotationAssertion( "benign conjunctiva neoplasm"^^xsd:string) AnnotationAssertion( "benign conjunctiva tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007374"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Conjunctival Neoplasm"^^xsd:string) SubClassOf( ) # Class: (Hypergonadotropic Hypogonadism and Partial Alopecia) AnnotationAssertion( "MIM:241090"^^xsd:string) AnnotationAssertion( "MESH:C567109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007375"^^xsd:string) AnnotationAssertion(rdfs:label "Hypergonadotropic Hypogonadism and Partial Alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phenol Sulfotransferase Deficiency) AnnotationAssertion( "MESH:C537895"^^xsd:string) AnnotationAssertion( "RDO:0003807"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007376"^^xsd:string) AnnotationAssertion(rdfs:label "Phenol Sulfotransferase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Achromatopsia 5) AnnotationAssertion( "MESH:C567759"^^xsd:string) AnnotationAssertion( "NCI:C164226"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007377"^^xsd:string) AnnotationAssertion(rdfs:label "Achromatopsia 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Subphrenic Abscess) AnnotationAssertion(Annotation( "MESH:D013369"^^xsd:string) "Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections."^^xsd:string) AnnotationAssertion( "EFO:1001854"^^xsd:string) AnnotationAssertion( "MESH:D013369"^^xsd:string) AnnotationAssertion( "Subdiaphragmatic Abscess"^^xsd:string) AnnotationAssertion( "Subdiaphragmatic Abscesses"^^xsd:string) AnnotationAssertion( "Subphrenic Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007378"^^xsd:string) AnnotationAssertion(rdfs:label "Subphrenic Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Intracranial Hypertension with Papilledema) AnnotationAssertion( "MESH:C531795"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007379"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Intracranial Hypertension with Papilledema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE) AnnotationAssertion( "DSG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:615508"^^xsd:string) AnnotationAssertion( "EPKHE"^^xsd:string) AnnotationAssertion( "SAM SYNDROME"^^xsd:string) AnnotationAssertion( "SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007380"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pili Multigemini) AnnotationAssertion( "MESH:C537188"^^xsd:string) AnnotationAssertion( "Compound hairs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007381"^^xsd:string) AnnotationAssertion(rdfs:label "Pili Multigemini"^^xsd:string) SubClassOf( ) # Class: (Zori Stalker Williams Syndrome) AnnotationAssertion( "MESH:C536728"^^xsd:string) AnnotationAssertion( "RDO:0002391"^^xsd:string) AnnotationAssertion( "Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails"^^xsd:string) AnnotationAssertion( "Pectus excavatum, macrocephaly and dysplastic nails"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007382"^^xsd:string) AnnotationAssertion(rdfs:label "Zori Stalker Williams Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chemical and Drug Induced Liver Injury) AnnotationAssertion(Annotation( "MESH:D056486"^^xsd:string) "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."^^xsd:string) AnnotationAssertion( "RDO:0007742"^^xsd:string) AnnotationAssertion( "EFO:0004228"^^xsd:string) AnnotationAssertion( "EFO:0011052"^^xsd:string) AnnotationAssertion( "MESH:D056486"^^xsd:string) AnnotationAssertion( "NCI:C84427"^^xsd:string) AnnotationAssertion( "Chemically Induced Liver Toxicity"^^xsd:string) AnnotationAssertion( "Drug Induced Acute Liver Injury"^^xsd:string) AnnotationAssertion( "Drug Induced Liver Disease"^^xsd:string) AnnotationAssertion( "Drug Induced Liver Injury"^^xsd:string) AnnotationAssertion( "Drug-Induced Liver Diseases"^^xsd:string) AnnotationAssertion( "Drug-Induced Liver Injuries"^^xsd:string) AnnotationAssertion( "Toxic Hepatitis"^^xsd:string) AnnotationAssertion( "chemically-induced liver toxicities"^^xsd:string) AnnotationAssertion( "hepatotoxicity"^^xsd:string) AnnotationAssertion( "toxic hepatitides"^^xsd:string) AnnotationAssertion( "Drug-induced liver injury due to flucloxacillin"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007383"^^xsd:string) AnnotationAssertion(rdfs:label "Chemical and Drug Induced Liver Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly Pontocerebellar Hypoplasia Dyskinesia) AnnotationAssertion( "MESH:C537543"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007384"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Pontocerebellar Hypoplasia Dyskinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Encephalopathy) AnnotationAssertion( "MESH:C538525"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007385"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Encephalopathy"^^xsd:string) SubClassOf( ) # Class: (Congenital Lower Urinary Tract Obstruction) AnnotationAssertion(Annotation( "MIM:618612"^^xsd:string) "A disease characterized by anatomic blockage of bladder outflow due to urethral stenosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-11-12T14:03:36Z"^^xsd:string) AnnotationAssertion( "MIM:618612"^^xsd:string) AnnotationAssertion( "LUTO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007386"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Lower Urinary Tract Obstruction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Oligodontia-Colorectal Cancer Syndrome) AnnotationAssertion( "MIM:608615"^^xsd:string) AnnotationAssertion( "RDO:0013033"^^xsd:string) AnnotationAssertion( "AXIN2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MESH:C563898"^^xsd:string) AnnotationAssertion( "ODCRCS"^^xsd:string) AnnotationAssertion( "Tooth Agenesis-Colorectal Cancer Syndrome"^^xsd:string) AnnotationAssertion( "AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007387"^^xsd:string) AnnotationAssertion(rdfs:label "Oligodontia-Colorectal Cancer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Heterochromia Iridis) AnnotationAssertion( "MIM:142500"^^xsd:string) AnnotationAssertion( "MESH:C538115"^^xsd:string) AnnotationAssertion( "asymmetry in the pigmentation of the irides"^^xsd:string) AnnotationAssertion( "pigmentary abnormality of the anterior segment of the eye"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007388"^^xsd:string) AnnotationAssertion(rdfs:label "Heterochromia Iridis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Tubulointerstitial Nephritis) AnnotationAssertion( "MESH:C564356"^^xsd:string) AnnotationAssertion( "RDO:0013351"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007389"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Tubulointerstitial Nephritis"^^xsd:string) SubClassOf( ) # Class: (Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression) AnnotationAssertion( "Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation. MECREN is caused by homozygous mutation in the SLC25A42 gene on chromosome 19p13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-06-11T14:58:22Z"^^xsd:string) AnnotationAssertion( "EFO:0010255"^^xsd:string) AnnotationAssertion( "MIM:618416"^^xsd:string) AnnotationAssertion( "MECREN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007390"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Inflammatory Bowel Disease 31) AnnotationAssertion(Annotation( "MIM:619398"^^xsd:string) "This disease is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD)."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-24T14:03:40Z"^^xsd:string) AnnotationAssertion( "MIM:619398"^^xsd:string) AnnotationAssertion( "IBD31"^^xsd:string) AnnotationAssertion( "INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Inflammatory bowel disease (infantile ulcerative colitis) 31"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007391"^^xsd:string) AnnotationAssertion(rdfs:label "Inflammatory Bowel Disease 31"^^xsd:string) SubClassOf( ) # Class: (Hyperzincemia with Functional Zinc Depletion) AnnotationAssertion( "MIM:601979"^^xsd:string) AnnotationAssertion( "MESH:C566595"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007392"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperzincemia with Functional Zinc Depletion"^^xsd:string) SubClassOf( ) # Class: (Acute Cholecystitis) AnnotationAssertion(Annotation( "MESH:D041881"^^xsd:string) "Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases."^^xsd:string) AnnotationAssertion( "EFO:1001289"^^xsd:string) AnnotationAssertion( "MESH:D041881"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007393"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Cholecystitis"^^xsd:string) SubClassOf( ) # Class: (Erythroplasia) AnnotationAssertion(Annotation( "MESH:D004919"^^xsd:string) "A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001786"^^xsd:string) AnnotationAssertion( "MESH:D004919"^^xsd:string) AnnotationAssertion( "Erythroplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007394"^^xsd:string) AnnotationAssertion(rdfs:label "Erythroplasia"^^xsd:string) SubClassOf( ) # Class: (Monocarboxylate Transporter 1 Deficiency) AnnotationAssertion( "MIM:616095"^^xsd:string) AnnotationAssertion( "MCT1D"^^xsd:string) AnnotationAssertion( "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007395"^^xsd:string) AnnotationAssertion(rdfs:label "Monocarboxylate Transporter 1 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atrioventricular Septal Defect 4) AnnotationAssertion( "MIM:614430"^^xsd:string) AnnotationAssertion( "AVSD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007396"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect 4"^^xsd:string) SubClassOf( ) # Class: (Progressive Transformation of Germinal Centers) AnnotationAssertion( "MESH:C548085"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007397"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Transformation of Germinal Centers"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phospholipidosis) AnnotationAssertion( "Conditions characterized by abnormal phospholipid deposition due to disturbance in lipid metabolism."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "phospholipidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007398"^^xsd:string) AnnotationAssertion(rdfs:label "Phospholipidosis"^^xsd:string) SubClassOf( ) # Class: (Female Genital Neoplasms) AnnotationAssertion(Annotation( "MESH:D005833"^^xsd:string) "Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)."^^xsd:string) AnnotationAssertion( "EFO:1001331"^^xsd:string) AnnotationAssertion( "MESH:D005833"^^xsd:string) AnnotationAssertion( "Female genital neoplasm"^^xsd:string) AnnotationAssertion( "Gynecologic neoplasm"^^xsd:string) AnnotationAssertion( "Gynecologic neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007399"^^xsd:string) AnnotationAssertion(rdfs:label "Female Genital Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lip Neoplasms) AnnotationAssertion(Annotation( "MESH:D008048"^^xsd:string) "Tumors or cancer of the LIP."^^xsd:string) AnnotationAssertion( "MESH:D008048"^^xsd:string) AnnotationAssertion( "Lip Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007400"^^xsd:string) AnnotationAssertion(rdfs:label "Lip Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Viral Hemorrhagic Fevers) AnnotationAssertion(Annotation( "MESH:D006482"^^xsd:string) "A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME."^^xsd:string) AnnotationAssertion( "EFO:0009575"^^xsd:string) AnnotationAssertion( "MESH:D006482"^^xsd:string) AnnotationAssertion( "Viral Hemorrhagic Fever"^^xsd:string) AnnotationAssertion( "mosquito-borne hemorragic fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007401"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Hemorrhagic Fevers"^^xsd:string) SubClassOf( ) # Class: (Gliosis) AnnotationAssertion(Annotation( "MESH:D005911"^^xsd:string) "The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion."^^xsd:string) AnnotationAssertion( "MESH:D005911"^^xsd:string) AnnotationAssertion( "RDO:0005678"^^xsd:string) AnnotationAssertion( "Astrocytosis"^^xsd:string) AnnotationAssertion( "Glioses"^^xsd:string) AnnotationAssertion( "astrogliosis"^^xsd:string) AnnotationAssertion( "reactive astrogliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007402"^^xsd:string) AnnotationAssertion(rdfs:label "Gliosis"^^xsd:string) SubClassOf( ) # Class: (Radiation Induced Brachial Plexopathy) AnnotationAssertion( "MESH:C536265"^^xsd:string) AnnotationAssertion( "Radiation induced brachial neuritis"^^xsd:string) AnnotationAssertion( "Radiation injury to the brachial plexus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007403"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Induced Brachial Plexopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cheilitis Glandularis) AnnotationAssertion( "MIM:118330"^^xsd:string) AnnotationAssertion( "MESH:C535921"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007404"^^xsd:string) AnnotationAssertion(rdfs:label "Cheilitis Glandularis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Landy Donnai Syndrome) AnnotationAssertion( "MESH:C537266"^^xsd:string) AnnotationAssertion( "RDO:0003071"^^xsd:string) AnnotationAssertion( "Hydrops, ectrodactyly, syndactyly, duplication of the great toes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007405"^^xsd:string) AnnotationAssertion(rdfs:label "Landy Donnai Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-10-22T15:38:47Z"^^xsd:string) AnnotationAssertion( "MIM:PS179800"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007406"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis"^^xsd:string) SubClassOf( ) # Class: (Familial Pars Planitis) AnnotationAssertion( "MESH:C531774"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007407"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Pars Planitis"^^xsd:string) SubClassOf( ) # Class: (Dental Focal Infection) AnnotationAssertion(Annotation( "MESH:D005491"^^xsd:string) "Secondary or systemic infections due to dissemination throughout the body of microorganisms whose primary focus of infection lies in the periodontal tissues."^^xsd:string) AnnotationAssertion( "MESH:D005491"^^xsd:string) AnnotationAssertion( "Dental Focal Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007408"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Focal Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly, Epilepsy, and Diabetes Syndrome 2) AnnotationAssertion( "Characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes. Caused by homozygous mutation in the YIPF5 gene on chromosome 5q31. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-19T18:24:36Z"^^xsd:string) AnnotationAssertion( "MIM:619278"^^xsd:string) AnnotationAssertion( "MEDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007409"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Epilepsy, and Diabetes Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Temple-Baraitser syndrome) AnnotationAssertion( "KCNH1 ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "KCNH1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009062"^^xsd:string) AnnotationAssertion( "GARD:9441"^^xsd:string) AnnotationAssertion( "MESH:C567516"^^xsd:string) AnnotationAssertion( "MIM:611816"^^xsd:string) AnnotationAssertion( "MONDO:0012735"^^xsd:string) AnnotationAssertion( "ORDO:420561"^^xsd:string) AnnotationAssertion( "Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex"^^xsd:string) AnnotationAssertion( "TMBTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007410"^^xsd:string) AnnotationAssertion(rdfs:label "Temple-Baraitser syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sleep Arousal Disorders) AnnotationAssertion(Annotation( "MESH:D020921"^^xsd:string) "Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep)."^^xsd:string) AnnotationAssertion( "MESH:D020921"^^xsd:string) AnnotationAssertion( "RDO:0006592"^^xsd:string) AnnotationAssertion( "Confusional Arousal"^^xsd:string) AnnotationAssertion( "Confusional Arousals"^^xsd:string) AnnotationAssertion( "Sleep Arousal Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007411"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep Arousal Disorders"^^xsd:string) SubClassOf( ) # Class: (Mitchell-Riley Syndrome) AnnotationAssertion( "MIM:615710"^^xsd:string) AnnotationAssertion( "MESH:C567570"^^xsd:string) AnnotationAssertion( "MTCHRS"^^xsd:string) AnnotationAssertion( "neonatal diabetes with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007412"^^xsd:string) AnnotationAssertion(rdfs:label "Mitchell-Riley Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, 10) AnnotationAssertion( "MIM:611100"^^xsd:string) AnnotationAssertion( "MESH:C567011"^^xsd:string) AnnotationAssertion( "HPC10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007413"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, 10"^^xsd:string) SubClassOf( ) # Class: (Judge Misch Wright Syndrome) AnnotationAssertion( "MESH:C537692"^^xsd:string) AnnotationAssertion( "RDO:0003573"^^xsd:string) AnnotationAssertion( "Dry skin, photophobia hyperkeratosis, abnormal fingernails"^^xsd:string) AnnotationAssertion( "Keratodermia palmoplantar periorificial"^^xsd:string) AnnotationAssertion( "Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007414"^^xsd:string) AnnotationAssertion(rdfs:label "Judge Misch Wright Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES) AnnotationAssertion(Annotation( "MIM:619876"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-26T10:24:37Z"^^xsd:string) AnnotationAssertion( "MIM:619876"^^xsd:string) AnnotationAssertion( "NEDMHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007416"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudomonas Infections) AnnotationAssertion(Annotation( "MESH:D011552"^^xsd:string) "Infections with bacteria of the genus PSEUDOMONAS."^^xsd:string) AnnotationAssertion( "EFO:0001076"^^xsd:string) AnnotationAssertion( "EFO:0001077"^^xsd:string) AnnotationAssertion( "MESH:D011552"^^xsd:string) AnnotationAssertion( "RDO:0002824"^^xsd:string) AnnotationAssertion( "Pseudomonas Infection"^^xsd:string) AnnotationAssertion( "Pseudomonas aeruginosa CF5 infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007417"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudomonas Infections"^^xsd:string) SubClassOf( ) # Class: (Somnambulism) AnnotationAssertion(Annotation( "MESH:D013009"^^xsd:string) "A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years."^^xsd:string) AnnotationAssertion( "MIM:613938"^^xsd:string) AnnotationAssertion( "MESH:D013009"^^xsd:string) AnnotationAssertion( "PARASOMNIA, SLEEPWALKING TYPE"^^xsd:string) AnnotationAssertion( "PSMNSW"^^xsd:string) AnnotationAssertion( "Sleep Walking"^^xsd:string) AnnotationAssertion( "Sleep Walking Disorder"^^xsd:string) AnnotationAssertion( "Sleepwalking"^^xsd:string) AnnotationAssertion( "nocturnal wandering"^^xsd:string) AnnotationAssertion( "sleep walking disorders"^^xsd:string) AnnotationAssertion( "PARASOMNIA, SLEEP TERRORS TYPE"^^xsd:string) AnnotationAssertion( "PSMNST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007418"^^xsd:string) AnnotationAssertion(rdfs:label "Somnambulism"^^xsd:string) SubClassOf( ) # Class: (Blood-Borne Infections) AnnotationAssertion( "Diseases due to or propagated by body fluids from hosts whose BLOOD has been contaminated with pathogens. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T20:42:31Z"^^xsd:string) AnnotationAssertion( "MESH:D000086982"^^xsd:string) AnnotationAssertion( "Blood Borne Disease"^^xsd:string) AnnotationAssertion( "Blood Borne Diseases"^^xsd:string) AnnotationAssertion( "Blood-Borne Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007419"^^xsd:string) AnnotationAssertion(rdfs:label "Blood-Borne Infections"^^xsd:string) SubClassOf( ) # Class: (Liddle Syndrome 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-10-11T11:45:22Z"^^xsd:string) AnnotationAssertion( "MIM:618114"^^xsd:string) AnnotationAssertion( "LIDLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007420"^^xsd:string) AnnotationAssertion(rdfs:label "Liddle Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 8, Autosomal) AnnotationAssertion( "An autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617205"^^xsd:string) AnnotationAssertion( "PKD1L1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HTX8"^^xsd:string) AnnotationAssertion( "DOID:9007421"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 8, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Decapitation) AnnotationAssertion(Annotation( "MESH:D049248"^^xsd:string) "Traumatic or experimentally induced separation of the head from the body in an animal or human."^^xsd:string) AnnotationAssertion( "MESH:D049248"^^xsd:string) AnnotationAssertion( "Decapitations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007422"^^xsd:string) AnnotationAssertion(rdfs:label "Decapitation"^^xsd:string) SubClassOf( ) # Class: (Arhinia, Choanal Atresia, and Microphthalmia) AnnotationAssertion( "MIM:603457"^^xsd:string) AnnotationAssertion( "SMCHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537429"^^xsd:string) AnnotationAssertion( "BAMS"^^xsd:string) AnnotationAssertion( "Bosma arhinia microphthalmia syndrome"^^xsd:string) AnnotationAssertion( "arhinia, choanal atresia, microphthalmia"^^xsd:string) AnnotationAssertion( "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007423"^^xsd:string) AnnotationAssertion(rdfs:label "Arhinia, Choanal Atresia, and Microphthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Myopathy, and Ataxia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617675"^^xsd:string) AnnotationAssertion( "MMYAT"^^xsd:string) AnnotationAssertion( "MSTO1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007424"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy, and Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diffuse Panbronchiolitis) AnnotationAssertion( "MIM:604809"^^xsd:string) AnnotationAssertion( "MESH:C536174"^^xsd:string) AnnotationAssertion( "NCI:C202116"^^xsd:string) AnnotationAssertion( "RDO:0001646"^^xsd:string) AnnotationAssertion( "DPB"^^xsd:string) AnnotationAssertion( "PBLT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007425"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Panbronchiolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 17, Trisomy 17q22) AnnotationAssertion( "MESH:C536579"^^xsd:string) AnnotationAssertion( "Duplication 17q"^^xsd:string) AnnotationAssertion( "Trisomy 17q22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007426"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17, Trisomy 17q22"^^xsd:string) SubClassOf( ) # Class: (ZIEGLER-HUANG SYNDROME) AnnotationAssertion(Annotation( "MIM:620501"^^xsd:string) "This disease is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-10T11:20:39Z"^^xsd:string) AnnotationAssertion( "MIM:620501"^^xsd:string) AnnotationAssertion( "BMFS8"^^xsd:string) AnnotationAssertion( "BONE MARROW FAILURE SYNDROME 8"^^xsd:string) AnnotationAssertion( "ZHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007427"^^xsd:string) AnnotationAssertion(rdfs:label "ZIEGLER-HUANG SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Muscle Spasticity) AnnotationAssertion(Annotation( "MESH:D009128"^^xsd:string) "A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)"^^xsd:string) AnnotationAssertion( "MESH:D009128"^^xsd:string) AnnotationAssertion( "Clasp Knife Spasticity"^^xsd:string) AnnotationAssertion( "SPASTICITY"^^xsd:string) AnnotationAssertion( "Spastic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007428"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Spasticity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Soft Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D012983"^^xsd:string) "Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc."^^xsd:string) AnnotationAssertion( "EFO:1000541"^^xsd:string) AnnotationAssertion( "MESH:D012983"^^xsd:string) AnnotationAssertion( "Soft Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007429"^^xsd:string) AnnotationAssertion(rdfs:label "Soft Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Intimal Sarcoma) AnnotationAssertion(Annotation( "NCI:C53677"^^xsd:string) "This is a malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-06T12:04:40Z"^^xsd:string) AnnotationAssertion( "EFO:1000305"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007431"^^xsd:string) AnnotationAssertion(rdfs:label "Intimal Sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Latent Tuberculosis) AnnotationAssertion(Annotation( "MESH:D055985"^^xsd:string) "The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test."^^xsd:string) AnnotationAssertion( "MESH:D055985"^^xsd:string) AnnotationAssertion( "Latent Tuberculoses"^^xsd:string) AnnotationAssertion( "Latent Tuberculosis Infection"^^xsd:string) AnnotationAssertion( "Latent Tuberculosis Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007432"^^xsd:string) AnnotationAssertion(rdfs:label "Latent Tuberculosis"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-13T12:50:36Z"^^xsd:string) AnnotationAssertion( "MIM:618453"^^xsd:string) AnnotationAssertion( "IDDSSA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007433"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (small artery occlusion) AnnotationAssertion(Annotation( "EFO:1001495"^^xsd:string) "This is blockage of blood flow through a small artery, particularly in the brain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-10-18T13:11:22Z"^^xsd:string) AnnotationAssertion( "EFO:1001495"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007434"^^xsd:string) AnnotationAssertion(rdfs:label "small artery occlusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypertrophic Cicatrix) AnnotationAssertion(Annotation( "MESH:D017439"^^xsd:string) "An elevated scar, resembling a KELOID, but which does not spread into surrounding tissues. It is formed by enlargement and overgrowth of cicatricial tissue and regresses spontaneously."^^xsd:string) AnnotationAssertion( "MESH:D017439"^^xsd:string) AnnotationAssertion( "Hypertrophic Cicatrices"^^xsd:string) AnnotationAssertion( "Hypertrophic Scar"^^xsd:string) AnnotationAssertion( "Hypertrophic Scars"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007436"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophic Cicatrix"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kasabach-Merritt Syndrome) AnnotationAssertion(Annotation( "MESH:D059885"^^xsd:string) "Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA."^^xsd:string) AnnotationAssertion( "MIM:141000"^^xsd:string) AnnotationAssertion( "MESH:D059885"^^xsd:string) AnnotationAssertion( "Hemangioma Thrombocytopenia Syndrome"^^xsd:string) AnnotationAssertion( "Hemangioma Thrombocytopenia Syndromes"^^xsd:string) AnnotationAssertion( "Kasabach Merritt Phenomenon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007438"^^xsd:string) AnnotationAssertion(rdfs:label "Kasabach-Merritt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parasystole) AnnotationAssertion(Annotation( "MESH:D017574"^^xsd:string) "A cardiac arrhythmia that is caused by interaction of two independently initiated cardiac impulses of different rates from two separate foci. Generally one focus is the SINOATRIAL NODE, the normal pacemaker. The ectopic focus is usually in the HEART VENTRICLE but can be in the HEART ATRIUM or the ATRIOVENTRICULAR NODE. Modulation of the parasystolic rhythm by the sinus rhythm depends on the completeness of entrance block surrounding the parasystolic focus."^^xsd:string) AnnotationAssertion( "MESH:D017574"^^xsd:string) AnnotationAssertion( "RDO:0007058"^^xsd:string) AnnotationAssertion( "Parasystoles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007439"^^xsd:string) AnnotationAssertion(rdfs:label "Parasystole"^^xsd:string) SubClassOf( ) # Class: (Coronary Artery Disease, Autosomal Dominant 1) AnnotationAssertion( "MIM:608320"^^xsd:string) AnnotationAssertion( "MESH:C564258"^^xsd:string) AnnotationAssertion( "ADCAD1"^^xsd:string) AnnotationAssertion( "CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION"^^xsd:string) AnnotationAssertion( "Coronary Artery Disease With Myocardial Infarction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007440"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Artery Disease, Autosomal Dominant 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abnormal Thyroid Hormone Metabolism 3) AnnotationAssertion(Annotation( "MIM:620198"^^xsd:string) "A disease characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH and free T3 levels. Caused by homozygous mutation in the TRU-TCA1-1 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-11T10:40:15Z"^^xsd:string) AnnotationAssertion( "MIM:620198"^^xsd:string) AnnotationAssertion( "THMA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007441"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Thyroid Hormone Metabolism 3"^^xsd:string) SubClassOf( ) # Class: (Central Centrifugal Cicatricial Alopecia) AnnotationAssertion( "Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-12T10:48:32Z"^^xsd:string) AnnotationAssertion( "cicatricial alopecia"^^xsd:string) AnnotationAssertion( "EFO:1002028"^^xsd:string) AnnotationAssertion( "MIM:618352"^^xsd:string) AnnotationAssertion( "CCCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007442"^^xsd:string) AnnotationAssertion(rdfs:label "Central Centrifugal Cicatricial Alopecia"^^xsd:string) SubClassOf( ) # Class: (HAIR-AN syndrome) AnnotationAssertion( "MESH:C537629"^^xsd:string) AnnotationAssertion( "Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome"^^xsd:string) AnnotationAssertion( "Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007443"^^xsd:string) AnnotationAssertion(rdfs:label "HAIR-AN syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Siegler Brewer Carey Syndrome) AnnotationAssertion( "MESH:C537335"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007444"^^xsd:string) AnnotationAssertion(rdfs:label "Siegler Brewer Carey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autoimmune Lymphoproliferative Syndrome, Type V) AnnotationAssertion( "An autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:616100"^^xsd:string) AnnotationAssertion( "ALPS5"^^xsd:string) AnnotationAssertion( "CHAI"^^xsd:string) AnnotationAssertion( "CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION"^^xsd:string) AnnotationAssertion( "IDAIL"^^xsd:string) AnnotationAssertion( "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007445"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Lymphoproliferative Syndrome, Type V"^^xsd:string) SubClassOf( ) # Class: (Wernicke Aphasia) AnnotationAssertion(Annotation( "MESH:D001041"^^xsd:string) "Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)"^^xsd:string) AnnotationAssertion( "MESH:D001041"^^xsd:string) AnnotationAssertion( "Fluent Aphasia, Wernicke"^^xsd:string) AnnotationAssertion( "Fluent Aphasia, Wernickes"^^xsd:string) AnnotationAssertion( "Fluent Dysphasia"^^xsd:string) AnnotationAssertion( "Fluent Dysphasias"^^xsd:string) AnnotationAssertion( "Jargon Aphasia"^^xsd:string) AnnotationAssertion( "Jargon Aphasias"^^xsd:string) AnnotationAssertion( "Posterior Aphasia"^^xsd:string) AnnotationAssertion( "Posterior Aphasias"^^xsd:string) AnnotationAssertion( "Psychosensory Aphasia"^^xsd:string) AnnotationAssertion( "Psychosensory Aphasias"^^xsd:string) AnnotationAssertion( "Receptive Aphasia"^^xsd:string) AnnotationAssertion( "Receptive Dysphasia"^^xsd:string) AnnotationAssertion( "Receptive Dysphasias"^^xsd:string) AnnotationAssertion( "Sensory Aphasia"^^xsd:string) AnnotationAssertion( "Sensory Dysphasia"^^xsd:string) AnnotationAssertion( "Sensory Dysphasias"^^xsd:string) AnnotationAssertion( "Wernicke Aphasias"^^xsd:string) AnnotationAssertion( "Wernicke Dysphasia"^^xsd:string) AnnotationAssertion( "Wernicke's dysphasia"^^xsd:string) AnnotationAssertion( "Wernicke's fluent aphasia"^^xsd:string) AnnotationAssertion( "Wernickes dysphasia"^^xsd:string) AnnotationAssertion( "fluent aphasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007446"^^xsd:string) AnnotationAssertion(rdfs:label "Wernicke Aphasia"^^xsd:string) SubClassOf( ) # Class: (Developmental Delay, Epilepsy, and Neonatal Diabetes) AnnotationAssertion( "RDO:0013947"^^xsd:string) AnnotationAssertion( "MESH:C565253"^^xsd:string) AnnotationAssertion( "DEND SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007447"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Delay, Epilepsy, and Neonatal Diabetes"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Sideroblastic Anemia) AnnotationAssertion( "RDO:0003155"^^xsd:string) AnnotationAssertion( "MESH:C537334"^^xsd:string) AnnotationAssertion( "AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA"^^xsd:string) AnnotationAssertion( "Sideroblastic anemia, autosomal recessive inheritance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007448"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Sideroblastic Anemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mental Retardation Mietens Weber Type) AnnotationAssertion( "MIM:249600"^^xsd:string) AnnotationAssertion( "MESH:C537444"^^xsd:string) AnnotationAssertion( "Mental retardation syndrome, Mietens Weber type"^^xsd:string) AnnotationAssertion( "Mietens-Weber syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007451"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Mietens Weber Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis) AnnotationAssertion( "MIM:611926"^^xsd:string) AnnotationAssertion( "MESH:C567457"^^xsd:string) AnnotationAssertion( "IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007452"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Silver-Russell Syndrome 5) AnnotationAssertion(Annotation( "MIM:618908"^^xsd:string) "Silver-Russell syndrome caused by heterozygous mutation in the HMGA2 gene on chromosome 12q14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T13:59:31Z"^^xsd:string) AnnotationAssertion( "MIM:618908"^^xsd:string) AnnotationAssertion( "SRS5"^^xsd:string) AnnotationAssertion( "Silver-Russell 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007453"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (amyloidoma) AnnotationAssertion(Annotation( "NCI:C41137"^^xsd:string) "This is a nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-23T15:59:35Z"^^xsd:string) AnnotationAssertion( "EFO:1001874"^^xsd:string) AnnotationAssertion( "Nodular Amyloidosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007454"^^xsd:string) AnnotationAssertion(rdfs:label "amyloidoma"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies) AnnotationAssertion(Annotation( "MIM:618494"^^xsd:string) "A syndromic neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development with poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-13T15:35:26Z"^^xsd:string) AnnotationAssertion( "ATN1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "congenital ATN1-related disorder"^^xsd:string) AnnotationAssertion( "MIM:618494"^^xsd:string) AnnotationAssertion( "CHEDDA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007455"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Female Infertility) AnnotationAssertion(Annotation( "MESH:D007247"^^xsd:string) "Diminished or absent ability of a female to achieve conception."^^xsd:string) AnnotationAssertion( "EFO:0008560"^^xsd:string) AnnotationAssertion( "MESH:D007247"^^xsd:string) AnnotationAssertion( "MIM:PS615774"^^xsd:string) AnnotationAssertion( "Female Sterility"^^xsd:string) AnnotationAssertion( "Female Subfertility"^^xsd:string) AnnotationAssertion( "female sub-fertility"^^xsd:string) AnnotationAssertion( "postpartum sterility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007456"^^xsd:string) AnnotationAssertion(rdfs:label "Female Infertility"^^xsd:string) SubClassOf( ) # Class: (Dyskinesias, Seizures, and Intellectual Developmental Disorder) AnnotationAssertion( "DEAF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEAF1-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:617171"^^xsd:string) AnnotationAssertion( "DYSEIDD"^^xsd:string) AnnotationAssertion( "Dyskinesia, seizures, and intellectual developmental disorder"^^xsd:string) AnnotationAssertion( "NEDHELS"^^xsd:string) AnnotationAssertion( "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007457"^^xsd:string) AnnotationAssertion(rdfs:label "Dyskinesias, Seizures, and Intellectual Developmental Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Obstructive Jaundice of Infancy) AnnotationAssertion( "MIM:308600"^^xsd:string) AnnotationAssertion( "MESH:C564118"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007458"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Obstructive Jaundice of Infancy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Vertebral Body Fusion Overgrowth) AnnotationAssertion( "MESH:C536543"^^xsd:string) AnnotationAssertion( "RDO:0002158"^^xsd:string) AnnotationAssertion( "Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007460"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral Body Fusion Overgrowth"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Lung Allograft Dysfunction) AnnotationAssertion( "Chronic and progressive loss of function in a transplanted lung. It involves a persistent decline in FEV1 (Forced expiratory volume in 1 second) of more than 20%, independent of the type of pulmonary function defect."^^xsd:string) AnnotationAssertion( "EFO:0008497"^^xsd:string) AnnotationAssertion( "CLAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007461"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Lung Allograft Dysfunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Partial Agenesis of Corpus Callosum) AnnotationAssertion( "MESH:C536111"^^xsd:string) AnnotationAssertion( "RDO:0001550"^^xsd:string) AnnotationAssertion( "PARTIAL AGENESIS OF THE CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007462"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Agenesis of Corpus Callosum"^^xsd:string) SubClassOf( ) # Class: (Silver-Russell Syndrome 2) AnnotationAssertion(Annotation( "MIM:618905"^^xsd:string) "Pre- and postnatal growth retardation, with relative sparing of cranial growth, triangular facies, and downturned corners of the mouth. An imprinting disorder involving genes within the imprinted region of chromosome 7."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-15T13:47:38Z"^^xsd:string) AnnotationAssertion( "MIM:618905"^^xsd:string) AnnotationAssertion( "SRS2"^^xsd:string) AnnotationAssertion( "maternal uniparental disomy, chromosome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007463"^^xsd:string) AnnotationAssertion(rdfs:label "Silver-Russell Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation) AnnotationAssertion( "MESH:C567038"^^xsd:string) AnnotationAssertion( "MIM:604278"^^xsd:string) AnnotationAssertion( "MONDO:0011422"^^xsd:string) AnnotationAssertion( "PRTAO"^^xsd:string) AnnotationAssertion( "autosomal recessive proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development"^^xsd:string) AnnotationAssertion( "proximal RTA, autosomal recessive"^^xsd:string) AnnotationAssertion( "proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development"^^xsd:string) AnnotationAssertion( "proximal renal tubular acidosis-ocular anomaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007464"^^xsd:string) AnnotationAssertion(rdfs:label "Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (6-Phosphogluconolactonase Deficiency) AnnotationAssertion( "MIM:172150"^^xsd:string) AnnotationAssertion( "MESH:C566803"^^xsd:string) AnnotationAssertion( "6PGL Deficiency"^^xsd:string) AnnotationAssertion( "PGLS Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007465"^^xsd:string) AnnotationAssertion(rdfs:label "6-Phosphogluconolactonase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neuhauser Daly Magnelli Syndrome) AnnotationAssertion( "MIM:190310"^^xsd:string) AnnotationAssertion( "MESH:C536406"^^xsd:string) AnnotationAssertion( "Essential tremors, nystagmus and duodenal ulceration"^^xsd:string) AnnotationAssertion( "Tremor nystagmus duodenal ulcer"^^xsd:string) AnnotationAssertion( "Tremor, Nystagmus, and Duodenal Ulcer"^^xsd:string) AnnotationAssertion( "Tremors, nystagmus and duodenal ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007468"^^xsd:string) AnnotationAssertion(rdfs:label "Neuhauser Daly Magnelli Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (2-Hydroxyethyl Methacrylate Sensitization) AnnotationAssertion( "MESH:C535305"^^xsd:string) AnnotationAssertion( "RDO:0000343"^^xsd:string) AnnotationAssertion( "Sensitization to 2-hydroxyethyl methacrylate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007469"^^xsd:string) AnnotationAssertion(rdfs:label "2-Hydroxyethyl Methacrylate Sensitization"^^xsd:string) SubClassOf( ) # Class: (Patent Ductus Arteriosus 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617039"^^xsd:string) AnnotationAssertion( "RDO:9001512"^^xsd:string) AnnotationAssertion( "PDA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007470"^^xsd:string) AnnotationAssertion(rdfs:label "Patent Ductus Arteriosus 3"^^xsd:string) SubClassOf( ) # Class: (vascular toxicity) AnnotationAssertion(Annotation( "PMID:34386529"^^xsd:string) "This is toxicity that impairs the vascular system or damages its function. It is a frequent adverse effect of current anticancer chemotherapies and often results from endothelial dysfunction. Vascular endothelial growth factor inhibitors (VEGFi), anthracyclines, plant alkaloids, alkylating agents, antimetabolites, and radiation therapy evoke vascular toxicity."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-27T16:02:46Z"^^xsd:string) AnnotationAssertion( "EFO:0011062"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007471"^^xsd:string) AnnotationAssertion(rdfs:label "vascular toxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Skin Manifestations) AnnotationAssertion(Annotation( "MESH:D012877"^^xsd:string) "Dermatologic disorders attendant upon non-dermatologic disease or injury."^^xsd:string) AnnotationAssertion( "MESH:D012877"^^xsd:string) AnnotationAssertion( "Skin Manifestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007472"^^xsd:string) AnnotationAssertion(rdfs:label "Skin Manifestations"^^xsd:string) SubClassOf( ) # Class: (Familial Hemorrhagic Diathesis due to Antithrombin) AnnotationAssertion( "MIM:207300"^^xsd:string) AnnotationAssertion( "MESH:C565947"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007473"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hemorrhagic Diathesis due to Antithrombin"^^xsd:string) SubClassOf( ) # Class: (Creutzfeldt-Jakob Disease, Heidenhain Variant) AnnotationAssertion( "MESH:C566981"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007474"^^xsd:string) AnnotationAssertion(rdfs:label "Creutzfeldt-Jakob Disease, Heidenhain Variant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Surfactant Metabolism Dysfunction 5) AnnotationAssertion( "MIM:614370"^^xsd:string) AnnotationAssertion( "CSF2RB DEFICIENCY"^^xsd:string) AnnotationAssertion( "CSF2RB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PAP DUE TO CSF2RB DEFICIENCY"^^xsd:string) AnnotationAssertion( "SMDP5"^^xsd:string) AnnotationAssertion( "pulmonary alveolar proteinosis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007475"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Surfactant Metabolism Dysfunction 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Jones Hersh Yusk Syndrome) AnnotationAssertion( "MESH:C535885"^^xsd:string) AnnotationAssertion( "RDO:0001241"^^xsd:string) AnnotationAssertion( "Aplasia cutis cleft palate epidermolysis"^^xsd:string) AnnotationAssertion( "Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly"^^xsd:string) AnnotationAssertion( "Ptosis, ectropion, thin skin, beaked nose"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007476"^^xsd:string) AnnotationAssertion(rdfs:label "Jones Hersh Yusk Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kininogen Deficiency, High Molecular Weight and Low Molecular Weight) AnnotationAssertion( "MESH:C567116"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007477"^^xsd:string) AnnotationAssertion(rdfs:label "Kininogen Deficiency, High Molecular Weight and Low Molecular Weight"^^xsd:string) SubClassOf( ) # Class: (Malocclusion, Angle Class III) AnnotationAssertion(Annotation( "MESH:D008313"^^xsd:string) "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)."^^xsd:string) AnnotationAssertion( "MIM:176700"^^xsd:string) AnnotationAssertion( "MESH:D008313"^^xsd:string) AnnotationAssertion( "Angle Class III"^^xsd:string) AnnotationAssertion( "Habsburg Jaw"^^xsd:string) AnnotationAssertion( "Hapsburg Jaw"^^xsd:string) AnnotationAssertion( "Underbite"^^xsd:string) AnnotationAssertion( "mandibular prognathism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007478"^^xsd:string) AnnotationAssertion(rdfs:label "Malocclusion, Angle Class III"^^xsd:string) SubClassOf( ) # Class: (Habitual Abortions) AnnotationAssertion(Annotation( "MESH:D000026"^^xsd:string) "Three or more consecutive spontaneous abortions."^^xsd:string) AnnotationAssertion( "MIM:614389"^^xsd:string) AnnotationAssertion( "MIM:614390"^^xsd:string) AnnotationAssertion( "MIM:614391"^^xsd:string) AnnotationAssertion( "EFO:1000954"^^xsd:string) AnnotationAssertion( "MESH:D000026"^^xsd:string) AnnotationAssertion( "Habitual Abortion"^^xsd:string) AnnotationAssertion( "RPL"^^xsd:string) AnnotationAssertion( "RPRGL"^^xsd:string) AnnotationAssertion( "Recurrent Abortion"^^xsd:string) AnnotationAssertion( "Recurrent Miscarriage"^^xsd:string) AnnotationAssertion( "Recurrent Miscarriages"^^xsd:string) AnnotationAssertion( "recurrent abortions"^^xsd:string) AnnotationAssertion( "recurrent embryonic loss"^^xsd:string) AnnotationAssertion( "recurrent spontaneous abortion"^^xsd:string) AnnotationAssertion( "recurrent spontaneous abortions"^^xsd:string) AnnotationAssertion( "recurrent stillbirth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "RPRGL1"^^xsd:string) AnnotationAssertion( "RPRGL2"^^xsd:string) AnnotationAssertion( "RPRGL3"^^xsd:string) AnnotationAssertion( "recurrent fetal loss, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9007479"^^xsd:string) AnnotationAssertion(rdfs:label "Habitual Abortions"^^xsd:string) SubClassOf( ) # Class: (Hyperoxia) AnnotationAssertion(Annotation( "MESH:D018496"^^xsd:string) "An abnormal increase in the amount of oxygen in the tissues and organs."^^xsd:string) AnnotationAssertion( "MESH:D018496"^^xsd:string) AnnotationAssertion( "Hyperoxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007480"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperoxia"^^xsd:string) SubClassOf( ) # Class: (Otitis) AnnotationAssertion(Annotation( "MESH:D010031"^^xsd:string) "Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS."^^xsd:string) AnnotationAssertion( "MESH:D010031"^^xsd:string) AnnotationAssertion( "RDO:0005953"^^xsd:string) AnnotationAssertion( "Ear Inflammation"^^xsd:string) AnnotationAssertion( "Ear Inflammations"^^xsd:string) AnnotationAssertion( "Otitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007481"^^xsd:string) AnnotationAssertion(rdfs:label "Otitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Metastasis) AnnotationAssertion( "Transfer of a neoplasm from its primary site to distant bone."^^xsd:string) AnnotationAssertion( "EFO:0009870"^^xsd:string) AnnotationAssertion( "MBD"^^xsd:string) AnnotationAssertion( "bone metastases"^^xsd:string) AnnotationAssertion( "metastatic bone disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007482"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Metastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex Superficialis) AnnotationAssertion( "MIM:607600"^^xsd:string) AnnotationAssertion( "MESH:C564368"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007483"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex Superficialis"^^xsd:string) SubClassOf( ) # Class: (Xeroderma Pigmentosum, Type 9) AnnotationAssertion( "Note: type 9 was described but it has now been withdrawn as it appears to be the same as another xeroderma pigementosum type. (http://www.rightdiagnosis.com/x/xeroderma_pigmentosum_type_9/intro.htm)"^^xsd:string) AnnotationAssertion( "MESH:C536765"^^xsd:string) AnnotationAssertion( "MESH:C564731"^^xsd:string) AnnotationAssertion( "XP, Group I"^^xsd:string) AnnotationAssertion( "XP9"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum Group I"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum IX"^^xsd:string) AnnotationAssertion( "Xeroderma Pigmentosum, Complementation Group I"^^xsd:string) AnnotationAssertion( "Xeroderma pigmentosum, complementation group 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007484"^^xsd:string) AnnotationAssertion(rdfs:label "Xeroderma Pigmentosum, Type 9"^^xsd:string) SubClassOf( ) # Class: (Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation) AnnotationAssertion( "MIM:611291"^^xsd:string) AnnotationAssertion( "MESH:C566970"^^xsd:string) AnnotationAssertion( "NHEJ1 Syndrome"^^xsd:string) AnnotationAssertion( "SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation"^^xsd:string) AnnotationAssertion( "Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency"^^xsd:string) AnnotationAssertion( "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007485"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Scleromyxedema) AnnotationAssertion(Annotation( "MESH:D053718"^^xsd:string) "A connective tissue disorder characterized by widespread thickening of SKIN with a cobblestone-like appearance. It is caused by proliferation of FIBROBLASTS and deposition of MUCIN in the DERMIS in the absence of thyroid disease. Most scleromyxedema cases are associated with a MONOCLONAL GAMMOPATHY, immunoglobulin IgG-lambda."^^xsd:string) AnnotationAssertion( "MESH:D053718"^^xsd:string) AnnotationAssertion( "NCI:C85061"^^xsd:string) AnnotationAssertion( "Lichen Myxedematosus"^^xsd:string) AnnotationAssertion( "Papular Mucinosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007486"^^xsd:string) AnnotationAssertion(rdfs:label "Scleromyxedema"^^xsd:string) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:618317"^^xsd:string) AnnotationAssertion( "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "IBGC7"^^xsd:string) AnnotationAssertion( "MYORG-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007487"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 7"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Juxtafoveal Retinal Telangiectasia) AnnotationAssertion( "MESH:C548027"^^xsd:string) AnnotationAssertion( "RDO:0004638"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007488"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Juxtafoveal Retinal Telangiectasia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Edema Disease of Swine) AnnotationAssertion(Annotation( "MESH:D004488"^^xsd:string) "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema."^^xsd:string) AnnotationAssertion( "MESH:D004488"^^xsd:string) AnnotationAssertion( "Swine Edema Disease"^^xsd:string) AnnotationAssertion( "Swine Edema Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007490"^^xsd:string) AnnotationAssertion(rdfs:label "Edema Disease of Swine"^^xsd:string) SubClassOf( ) # Class: (Childhood Schizophrenia) AnnotationAssertion(Annotation( "MESH:D012561"^^xsd:string) "An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS."^^xsd:string) AnnotationAssertion( "RDO:0006539"^^xsd:string) AnnotationAssertion( "MESH:D012561"^^xsd:string) AnnotationAssertion( "Childhood Onset Schizophrenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007491"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Schizophrenia"^^xsd:string) SubClassOf( ) # Class: (Akaba Hayasaka Syndrome) AnnotationAssertion( "MESH:C535609"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007492"^^xsd:string) AnnotationAssertion(rdfs:label "Akaba Hayasaka Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T08:53:57Z"^^xsd:string) AnnotationAssertion( "MIM:261680"^^xsd:string) AnnotationAssertion( "PCK1 DEFICIENCY, CYTOSOLIC"^^xsd:string) AnnotationAssertion( "PCKDC"^^xsd:string) AnnotationAssertion( "PEPCK DEFICIENCY, CYTOSOLIC"^^xsd:string) AnnotationAssertion( "Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007493"^^xsd:string) AnnotationAssertion(rdfs:label "Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic"^^xsd:string) SubClassOf( ) # Class: (Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules) AnnotationAssertion( "MESH:C535905"^^xsd:string) AnnotationAssertion( "RDO:0001270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007494"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Macules Hereditary Congenital Hypopigmented and Hyperpigmented) AnnotationAssertion( "MESH:C537836"^^xsd:string) AnnotationAssertion( "RDO:0003742"^^xsd:string) AnnotationAssertion( "Congenital hypomelanotic and hypermelanotic macules"^^xsd:string) AnnotationAssertion( "Westerhof Beemer Cormane syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007495"^^xsd:string) AnnotationAssertion(rdfs:label "Macules Hereditary Congenital Hypopigmented and Hyperpigmented"^^xsd:string) SubClassOf( ) # Class: (Thyroid Benign Neoplasms) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000122"^^xsd:string) AnnotationAssertion( "RDO:9003196"^^xsd:string) AnnotationAssertion( "Benign Thyroid Gland Neoplasm"^^xsd:string) AnnotationAssertion( "Thyroid Benign Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007496"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Benign Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Polyglucosan Body Disease, Adult Form) AnnotationAssertion( "MIM:263570"^^xsd:string) AnnotationAssertion( "GBE1-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "GBE1-related disorder"^^xsd:string) AnnotationAssertion( "MESH:C564878"^^xsd:string) AnnotationAssertion( "MONDO:0009897"^^xsd:string) AnnotationAssertion( "APBD"^^xsd:string) AnnotationAssertion( "APBN"^^xsd:string) AnnotationAssertion( "Adult Polyglucosan Body Disease"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM"^^xsd:string) AnnotationAssertion( "adult polyglucosan body neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007497"^^xsd:string) AnnotationAssertion(rdfs:label "Polyglucosan Body Disease, Adult Form"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniomandibular Osteopathy) AnnotationAssertion( "A bone disease involving the joint connecting upper and lower jaws."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "OMIA:000236"^^xsd:string) AnnotationAssertion( "RDO:9001461"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007498"^^xsd:string) AnnotationAssertion(rdfs:label "Craniomandibular Osteopathy"^^xsd:string) SubClassOf( ) # Class: (Pyloric Atresia) AnnotationAssertion(Annotation( "MESH:C562561"^^xsd:string) "A hereditary autosomal recessive obstruction of the pylorus. Affected fetuses have dilated stomachs and mothers may exhibit POLYHYDRAMNIOS."^^xsd:string) AnnotationAssertion( "MIM:265950"^^xsd:string) AnnotationAssertion( "MESH:C562561"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007499"^^xsd:string) AnnotationAssertion(rdfs:label "Pyloric Atresia"^^xsd:string) SubClassOf( ) # Class: (Prurigo) AnnotationAssertion(Annotation( "MESH:D011536"^^xsd:string) "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D011536"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007500"^^xsd:string) AnnotationAssertion(rdfs:label "Prurigo"^^xsd:string) SubClassOf( ) # Class: (Multiple System Atrophy (MSA) with Orthostatic Hypotension) AnnotationAssertion( "MIM:146500"^^xsd:string) AnnotationAssertion( "COQ2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9007501"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple System Atrophy (MSA) with Orthostatic Hypotension"^^xsd:string) SubClassOf( ) # Class: (Brain Neoplasms) AnnotationAssertion(Annotation( "MESH:D001932"^^xsd:string) "Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain."^^xsd:string) AnnotationAssertion( "EFO:0003833"^^xsd:string) AnnotationAssertion( "EFO:1000107"^^xsd:string) AnnotationAssertion( "MESH:D001932"^^xsd:string) AnnotationAssertion( "Brain Tumor"^^xsd:string) AnnotationAssertion( "Brain Tumors"^^xsd:string) AnnotationAssertion( "Intracranial Neoplasm"^^xsd:string) AnnotationAssertion( "Intracranial Neoplasms"^^xsd:string) AnnotationAssertion( "Primary Brain Neoplasms"^^xsd:string) AnnotationAssertion( "brain neoplasm"^^xsd:string) AnnotationAssertion( "neoplasm of brain"^^xsd:string) AnnotationAssertion( "primary brain neoplasm"^^xsd:string) AnnotationAssertion( "primary brain tumor"^^xsd:string) AnnotationAssertion( "primary brain tumors"^^xsd:string) AnnotationAssertion( "recurrent brain tumor"^^xsd:string) AnnotationAssertion( "recurrent brain tumors"^^xsd:string) AnnotationAssertion( "Brain Malignant Neoplasm"^^xsd:string) AnnotationAssertion( "Brain Malignant Neoplasms"^^xsd:string) AnnotationAssertion( "Malignant Primary Brain Neoplasms"^^xsd:string) AnnotationAssertion( "Malignant Primary Brain Tumors"^^xsd:string) AnnotationAssertion( "benign brain neoplasm"^^xsd:string) AnnotationAssertion( "benign brain neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007502"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Striatonigral Degeneration, Infantile, Mitochondrial) AnnotationAssertion( "MIM:500003"^^xsd:string) AnnotationAssertion( "MESH:C564025"^^xsd:string) AnnotationAssertion( "Infantile Bilateral Striatal Necrosis, Mitochondrial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007503"^^xsd:string) AnnotationAssertion(rdfs:label "Striatonigral Degeneration, Infantile, Mitochondrial"^^xsd:string) SubClassOf( ) # Class: (Chromosome Xq27.3-q28 Duplication Syndrome) AnnotationAssertion(Annotation( "MIM:300869"^^xsd:string) "An X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Caused by copy number increase of a 5.1-Mb region of chromosome Xq27.3-q28 encompassing at least 28 genes, including FMR1."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-21T15:23:17Z"^^xsd:string) AnnotationAssertion( "MIM:300869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007504"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq27.3-q28 Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypophosphatemic Rickets) AnnotationAssertion(Annotation( "MESH:D053098"^^xsd:string) "A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported."^^xsd:string) AnnotationAssertion( "MESH:D053098"^^xsd:string) AnnotationAssertion( "MIM:PS193100"^^xsd:string) AnnotationAssertion( "HPDR"^^xsd:string) AnnotationAssertion( "HYP"^^xsd:string) AnnotationAssertion( "hereditary hypophosphatemic rickets"^^xsd:string) AnnotationAssertion( "hereditary vitamin D resistant rickets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007505"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypophosphatemic Rickets"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Generalized Essential Telangiectasia) AnnotationAssertion( "MIM:187260"^^xsd:string) AnnotationAssertion( "MESH:C562908"^^xsd:string) AnnotationAssertion( "MESH:C562998"^^xsd:string) AnnotationAssertion( "MONDO:0008534"^^xsd:string) AnnotationAssertion( "ORDO:280774"^^xsd:string) AnnotationAssertion( "HBT"^^xsd:string) AnnotationAssertion( "Hereditary Benign Telangiectasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007508"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Essential Telangiectasia"^^xsd:string) SubClassOf( ) # Class: (Hhhh Syndrome) AnnotationAssertion( "MIM:306960"^^xsd:string) AnnotationAssertion( "MESH:C564411"^^xsd:string) AnnotationAssertion( "Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007509"^^xsd:string) AnnotationAssertion(rdfs:label "Hhhh Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bronchiolitis Obliterans Syndrome) AnnotationAssertion( "Bronchiolitis obliterans complication from allogenic HEMATOPOIETIC STEM CELL TRANSPLANTATION and LUNG TRANSPLANTATION."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T13:57:43Z"^^xsd:string) AnnotationAssertion( "MESH:D000092122"^^xsd:string) AnnotationAssertion( "MONDO:0020547"^^xsd:string) AnnotationAssertion( "BOS Bronchiolitis Obliterans Syndrome"^^xsd:string) AnnotationAssertion( "Chronic Graft-Versus-Host Disease"^^xsd:string) AnnotationAssertion( "Obstructive CLAD"^^xsd:string) AnnotationAssertion( "Obstructive Chronic Lung Allograft Dysfunction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007511"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchiolitis Obliterans Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Steel Syndrome) AnnotationAssertion( "Steel syndrome (STLS) is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. STLS is caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615155"^^xsd:string) AnnotationAssertion( "DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE"^^xsd:string) AnnotationAssertion( "STLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007513"^^xsd:string) AnnotationAssertion(rdfs:label "Steel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Developmental and Epileptic Encephalopathy 114) AnnotationAssertion(Annotation( "MIM:620774"^^xsd:string) "This disease is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-10T17:44:29Z"^^xsd:string) AnnotationAssertion( "MIM:620774"^^xsd:string) AnnotationAssertion( "MONDO:0958331"^^xsd:string) AnnotationAssertion( "DEE114"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007514"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental and Epileptic Encephalopathy 114"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (C1q Deficiency) AnnotationAssertion( "MIM:PS613652"^^xsd:string) AnnotationAssertion( "C1QD"^^xsd:string) AnnotationAssertion( "Complement Component C1q Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007516"^^xsd:string) AnnotationAssertion(rdfs:label "C1q Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-02-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616738"^^xsd:string) AnnotationAssertion( "MONDO:0014758"^^xsd:string) AnnotationAssertion( "MECOM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "RUSAT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007517"^^xsd:string) AnnotationAssertion(rdfs:label "Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2"^^xsd:string) SubClassOf( ) # Class: (Urogenital Adysplasia) AnnotationAssertion( "MESH:C536481"^^xsd:string) AnnotationAssertion( "RDO:0002082"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007518"^^xsd:string) AnnotationAssertion(rdfs:label "Urogenital Adysplasia"^^xsd:string) SubClassOf( ) # Class: (Opitz Reynolds Fitzgerald syndrome) AnnotationAssertion( "MESH:C535713"^^xsd:string) AnnotationAssertion( "RDO:0000981"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007519"^^xsd:string) AnnotationAssertion(rdfs:label "Opitz Reynolds Fitzgerald syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paraomphalocele) AnnotationAssertion( "MESH:C537170"^^xsd:string) AnnotationAssertion( "Epigastric paraomphalocele"^^xsd:string) AnnotationAssertion( "Hypogastric paraomphalocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007520"^^xsd:string) AnnotationAssertion(rdfs:label "Paraomphalocele"^^xsd:string) SubClassOf( ) # Class: (Desbuquois Dysplasia 1) AnnotationAssertion( "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:251450"^^xsd:string) AnnotationAssertion( "DBQD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007521"^^xsd:string) AnnotationAssertion(rdfs:label "Desbuquois Dysplasia 1"^^xsd:string) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 6) AnnotationAssertion( "MIM:615010"^^xsd:string) AnnotationAssertion( "MONDO:0014007"^^xsd:string) AnnotationAssertion( "AGS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007522"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Femoracetabular Impingement) AnnotationAssertion(Annotation( "MESH:D057925"^^xsd:string) "A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures."^^xsd:string) AnnotationAssertion( "MESH:D057925"^^xsd:string) AnnotationAssertion( "RDO:0007807"^^xsd:string) AnnotationAssertion( "Femoracetabular Impingements"^^xsd:string) AnnotationAssertion( "Femoro Acetabular Impingement"^^xsd:string) AnnotationAssertion( "Femoro-Acetabular Impingements"^^xsd:string) AnnotationAssertion( "Femoroacetabular Impingement"^^xsd:string) AnnotationAssertion( "Femoroacetabular Impingement Syndrome"^^xsd:string) AnnotationAssertion( "Femoroacetabular Impingement Syndromes"^^xsd:string) AnnotationAssertion( "Femoroacetabular Impingements"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007523"^^xsd:string) AnnotationAssertion(rdfs:label "Femoracetabular Impingement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Leigh Syndrome Due To Mitochondrial Complex I Deficiency) AnnotationAssertion( "MESH:C564021"^^xsd:string) AnnotationAssertion( "Atpase Deficiency, Nuclear-Encoded"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007525"^^xsd:string) AnnotationAssertion(rdfs:label "Leigh Syndrome Due To Mitochondrial Complex I Deficiency"^^xsd:string) SubClassOf( ) # Class: (Dysplasia Epiphysealis Hemimelica) AnnotationAssertion( "MIM:127800"^^xsd:string) AnnotationAssertion( "MESH:C537997"^^xsd:string) AnnotationAssertion( "Trevor disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007526"^^xsd:string) AnnotationAssertion(rdfs:label "Dysplasia Epiphysealis Hemimelica"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Myopathy, Infantile, Transient) AnnotationAssertion( "Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis."^^xsd:string) AnnotationAssertion( "MIM:500009"^^xsd:string) AnnotationAssertion( "RDO:9000705"^^xsd:string) AnnotationAssertion( "COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "MMIT"^^xsd:string) AnnotationAssertion( "Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency"^^xsd:string) AnnotationAssertion( "RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007527"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Myopathy, Infantile, Transient"^^xsd:string) SubClassOf( ) # Class: (Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges) AnnotationAssertion( "MIM:106995"^^xsd:string) AnnotationAssertion( "MESH:C537766"^^xsd:string) AnnotationAssertion( "Cooks syndrome"^^xsd:string) AnnotationAssertion( "anonychia and absence-hypoplasia of distal phalanges"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007528"^^xsd:string) AnnotationAssertion(rdfs:label "Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Marfan Syndrome, Autosomal Recessive) AnnotationAssertion( "RECESSIVE MARFANOID SYNDROME WITH SEVERE HERNIATION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007529"^^xsd:string) AnnotationAssertion(rdfs:label "Marfan Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Schizotaxia) AnnotationAssertion( "MESH:C536634"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007530"^^xsd:string) AnnotationAssertion(rdfs:label "Schizotaxia"^^xsd:string) SubClassOf( ) # Class: (Myopia 18, Autosomal Recessive) AnnotationAssertion( "MIM:255500"^^xsd:string) AnnotationAssertion( "MESH:C567606"^^xsd:string) AnnotationAssertion( "MYP18"^^xsd:string) AnnotationAssertion( "Myopia 18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007531"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 18, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (TAN-ALMURSHEDI SYNDROME) AnnotationAssertion(Annotation( "MIM:620641"^^xsd:string) "This disease is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-05T12:16:12Z"^^xsd:string) AnnotationAssertion( "MIM:620641"^^xsd:string) AnnotationAssertion( "TANALS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007532"^^xsd:string) AnnotationAssertion(rdfs:label "TAN-ALMURSHEDI SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hantavirus Infections) AnnotationAssertion(Annotation( "MESH:D018778"^^xsd:string) "Infections with viruses of the genus HANTAVIRUS. This is associated with at least four clinical syndromes: HEMORRHAGIC FEVER WITH RENAL SYNDROME caused by viruses of the Hantaan group; a milder form of HFRS caused by SEOUL VIRUS; nephropathia epidemica caused by PUUMALA VIRUS; and HANTAVIRUS PULMONARY SYNDROME caused by SIN NOMBRE VIRUS."^^xsd:string) AnnotationAssertion( "EFO:0007295"^^xsd:string) AnnotationAssertion( "MESH:D018778"^^xsd:string) AnnotationAssertion( "RDO:0005767"^^xsd:string) AnnotationAssertion( "Hantavirus Infection"^^xsd:string) AnnotationAssertion( "Hantavirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007533"^^xsd:string) AnnotationAssertion(rdfs:label "Hantavirus Infections"^^xsd:string) SubClassOf( ) # Class: (Complex Cortical Dysplasia with Other Brain Malformations 10) AnnotationAssertion( "This disease is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-26T09:14:28Z"^^xsd:string) AnnotationAssertion( "APC2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618677"^^xsd:string) AnnotationAssertion( "CDCBM10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007534"^^xsd:string) AnnotationAssertion(rdfs:label "Complex Cortical Dysplasia with Other Brain Malformations 10"^^xsd:string) SubClassOf( ) # Class: (Postmastectomy Angiosarcoma) AnnotationAssertion( "MESH:C000608733"^^xsd:string) AnnotationAssertion( "RDO:0016055"^^xsd:string) AnnotationAssertion( "Post-Mastectomy Angiosarcoma"^^xsd:string) AnnotationAssertion( "Postmastectomy Stewart-Treves Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007535"^^xsd:string) AnnotationAssertion(rdfs:label "Postmastectomy Angiosarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Moyamoya Disease 2) AnnotationAssertion( "MIM:607151"^^xsd:string) AnnotationAssertion( "MESH:C536992"^^xsd:string) AnnotationAssertion( "NCI:C183312"^^xsd:string) AnnotationAssertion( "MYMY2"^^xsd:string) AnnotationAssertion( "RNF213-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007536"^^xsd:string) AnnotationAssertion(rdfs:label "Moyamoya Disease 2"^^xsd:string) SubClassOf( ) # Class: (Venom Allergy) AnnotationAssertion( "Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE)."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:45:04Z"^^xsd:string) AnnotationAssertion( "MESH:D000092422"^^xsd:string) AnnotationAssertion( "Venom Hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007537"^^xsd:string) AnnotationAssertion(rdfs:label "Venom Allergy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Maxillary Fractures) AnnotationAssertion(Annotation( "MESH:D008440"^^xsd:string) "Fractures of the upper jaw."^^xsd:string) AnnotationAssertion( "MESH:D008440"^^xsd:string) AnnotationAssertion( "Maxillary Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007538"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillary Fractures"^^xsd:string) SubClassOf( ) # Class: (Peritoneal Retractile Mesenteritis) AnnotationAssertion( "MESH:C538596"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007539"^^xsd:string) AnnotationAssertion(rdfs:label "Peritoneal Retractile Mesenteritis"^^xsd:string) SubClassOf( ) # Class: (X-Linked Cone Dystrophy with Tapetal-like Sheen) AnnotationAssertion( "MIM:304030"^^xsd:string) AnnotationAssertion( "MESH:C535975"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007540"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Cone Dystrophy with Tapetal-like Sheen"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Common Variable Immunodeficiency 15) AnnotationAssertion(Annotation( "MIM:620670"^^xsd:string) "An autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:39:27Z"^^xsd:string) AnnotationAssertion( "MIM:620670"^^xsd:string) AnnotationAssertion( "CVID15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007541"^^xsd:string) AnnotationAssertion(rdfs:label "Common Variable Immunodeficiency 15"^^xsd:string) SubClassOf( ) # Class: (Vascular Compression of the Duodenum) AnnotationAssertion( "MESH:C548420"^^xsd:string) AnnotationAssertion( "RDO:0004670"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007542"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Compression of the Duodenum"^^xsd:string) SubClassOf( ) # Class: (Familial Cirrhosis) AnnotationAssertion( "MIM:118900"^^xsd:string) AnnotationAssertion( "MIM:215600"^^xsd:string) AnnotationAssertion( "MESH:C566123"^^xsd:string) AnnotationAssertion( "CIRRHOSIS, CRYPTOGENIC"^^xsd:string) AnnotationAssertion( "CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION"^^xsd:string) AnnotationAssertion( "CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "COPPER TOXICOSIS, IDIOPATHIC"^^xsd:string) AnnotationAssertion( "COPPER-OVERLOAD CIRRHOSIS"^^xsd:string) AnnotationAssertion( "ENDEMIC TYROLEAN INFANTILE CIRRHOSIS"^^xsd:string) AnnotationAssertion( "ETIC"^^xsd:string) AnnotationAssertion( "ICC"^^xsd:string) AnnotationAssertion( "ICT"^^xsd:string) AnnotationAssertion( "Indian childhood cirrhosis"^^xsd:string) AnnotationAssertion( "Sen syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007543"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cirrhosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vomiting, Anticipatory) AnnotationAssertion(Annotation( "MESH:D014840"^^xsd:string) "Vomiting caused by expectation of discomfort or unpleasantness."^^xsd:string) AnnotationAssertion( "MESH:D014840"^^xsd:string) AnnotationAssertion( "RDO:0006816"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007544"^^xsd:string) AnnotationAssertion(rdfs:label "Vomiting, Anticipatory"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Idiopathic Basal Ganglia Calcification 1) AnnotationAssertion( "Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic. (OMIM)"^^xsd:string) AnnotationAssertion( "MESH:C536275"^^xsd:string) AnnotationAssertion( "MESH:C537657"^^xsd:string) AnnotationAssertion( "MIM:213600"^^xsd:string) AnnotationAssertion( "BSPDC"^^xsd:string) AnnotationAssertion( "Cerebrovascular ferrocalcinosis"^^xsd:string) AnnotationAssertion( "Familial idiopathic basal ganglia calcification"^^xsd:string) AnnotationAssertion( "Fibgc"^^xsd:string) AnnotationAssertion( "IBGC1"^^xsd:string) AnnotationAssertion( "SLC20A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "adult-onset idiopathic nonarteriosclerotic cerebral calcification"^^xsd:string) AnnotationAssertion( "bilateral striopallidodentate calcinosis"^^xsd:string) AnnotationAssertion( "striopallidodentate calcinosis"^^xsd:string) AnnotationAssertion( "striopallidodentate calcinosis, autosomal dominant, adult onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IBGC2"^^xsd:string) AnnotationAssertion( "IBGC3"^^xsd:string) AnnotationAssertion( "familial Fahr disease"^^xsd:string) AnnotationAssertion( "idiopathic basal ganglia calcification 2"^^xsd:string) AnnotationAssertion( "idiopathic basal ganglia calcification 3"^^xsd:string) AnnotationAssertion( "DOID:9007546"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Incomplete Abortion) AnnotationAssertion(Annotation( "MESH:D000027"^^xsd:string) "Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled."^^xsd:string) AnnotationAssertion( "RDO:0004691"^^xsd:string) AnnotationAssertion( "EFO:1001799"^^xsd:string) AnnotationAssertion( "MESH:D000027"^^xsd:string) AnnotationAssertion( "Incomplete Abortions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007547"^^xsd:string) AnnotationAssertion(rdfs:label "Incomplete Abortion"^^xsd:string) SubClassOf( ) # Class: (Leukoencephalomyelopathy) AnnotationAssertion( "A recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). (www.vetmed.umn.edu)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-05-23T17:00:10Z"^^xsd:string) AnnotationAssertion( "OMIA:001788"^^xsd:string) AnnotationAssertion( "LEMP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007548"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalomyelopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurofibromatosis Type 4, of Riccardi) AnnotationAssertion( "MIM:162270"^^xsd:string) AnnotationAssertion( "MESH:C537392"^^xsd:string) AnnotationAssertion( "NF4"^^xsd:string) AnnotationAssertion( "Neurofibromatosis Type IV, Of Riccardi"^^xsd:string) AnnotationAssertion( "Neurofibromatosis, variant form(s) of"^^xsd:string) AnnotationAssertion( "atypical neurofibromatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007549"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofibromatosis Type 4, of Riccardi"^^xsd:string) SubClassOf( ) # Class: (Volcke Soekarman Syndrome) AnnotationAssertion( "MESH:C537718"^^xsd:string) AnnotationAssertion( "RDO:0003607"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007550"^^xsd:string) AnnotationAssertion(rdfs:label "Volcke Soekarman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sporadic Hemiplegic Migraine) AnnotationAssertion( "MESH:C563405"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007552"^^xsd:string) AnnotationAssertion(rdfs:label "Sporadic Hemiplegic Migraine"^^xsd:string) SubClassOf( ) # Class: (neurotoxicity) AnnotationAssertion(Annotation( "EFO:0011057"^^xsd:string) "This disease state involves injury to the central or peripheral nervous system or damage to its function. This damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, amnesia, dyskinesia, Parkinson's disease, tremor, convulsions and Guillain Barre syndrome."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-12T15:57:02Z"^^xsd:string) AnnotationAssertion( "EFO:0011057"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007553"^^xsd:string) AnnotationAssertion(rdfs:label "neurotoxicity"^^xsd:string) SubClassOf( ) # Class: (Mydriasis) AnnotationAssertion(Annotation( "MESH:D015878"^^xsd:string) "Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME."^^xsd:string) AnnotationAssertion( "HP:0011499"^^xsd:string) AnnotationAssertion( "MESH:D015878"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007554"^^xsd:string) AnnotationAssertion(rdfs:label "Mydriasis"^^xsd:string) SubClassOf( ) # Class: (Spinal Muscular Atrophy with Congenital Bone Fractures 2) AnnotationAssertion( "MIM:616867"^^xsd:string) AnnotationAssertion( "SMABF2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007555"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Muscular Atrophy with Congenital Bone Fractures 2"^^xsd:string) SubClassOf( ) # Class: (Arima Syndrome) AnnotationAssertion( "MIM:243910"^^xsd:string) AnnotationAssertion( "MESH:C537430"^^xsd:string) AnnotationAssertion( "Dekaban Arima syndrome"^^xsd:string) AnnotationAssertion( "Joubert syndrome with bilateral chorioretinal coloboma"^^xsd:string) AnnotationAssertion( "cerebro-oculo-hepato-renal syndrome"^^xsd:string) AnnotationAssertion( "chorioretinal coloboma with cerebellar vermis aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007556"^^xsd:string) AnnotationAssertion(rdfs:label "Arima Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Laryngeal Papillomatosis) AnnotationAssertion( "MESH:C537876"^^xsd:string) AnnotationAssertion( "RDO:0003787"^^xsd:string) AnnotationAssertion( "Juvenile laryngeal papillomatosis"^^xsd:string) AnnotationAssertion( "Recurrent laryngeal papillomatosis"^^xsd:string) AnnotationAssertion( "Warts in the throat"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007557"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Experimental Pancreatitis) AnnotationAssertion( "Acute inflammation of the pancreas induced experimentally in laboratory animals."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007558"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Experimental Pancreatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thyroglossal Cyst) AnnotationAssertion(Annotation( "MESH:D013955"^^xsd:string) "A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000585"^^xsd:string) AnnotationAssertion( "MESH:D013955"^^xsd:string) AnnotationAssertion( "Thyroglossal Cysts"^^xsd:string) AnnotationAssertion( "Thyroglossal Duct Cyst"^^xsd:string) AnnotationAssertion( "Thyroglossal Duct Cysts"^^xsd:string) AnnotationAssertion( "Thyrolingual Cyst"^^xsd:string) AnnotationAssertion( "Thyrolingual Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007559"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroglossal Cyst"^^xsd:string) SubClassOf( ) # Class: (Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities) AnnotationAssertion( "A severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617668"^^xsd:string) AnnotationAssertion( "LIPT2D"^^xsd:string) AnnotationAssertion( "NELABA"^^xsd:string) AnnotationAssertion( "lipoyltransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007560"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Premature Ovarian Failure 23) AnnotationAssertion(Annotation( "MIM:620686"^^xsd:string) "A disease characterized by female infertility due to reduction of ovarian reserve. Caused by homozygous mutation in the MEIOB gene on chromosome 16p13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:13:47Z"^^xsd:string) AnnotationAssertion( "MIM:620686"^^xsd:string) AnnotationAssertion( "POF23"^^xsd:string) AnnotationAssertion( "primary ovarian insufficiency 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007561"^^xsd:string) AnnotationAssertion(rdfs:label "Premature Ovarian Failure 23"^^xsd:string) SubClassOf( ) # Class: (Perifolliculitis Capitis Abscedens Et Suffodiens, Familial) AnnotationAssertion( "MIM:260910"^^xsd:string) AnnotationAssertion( "MESH:C562486"^^xsd:string) AnnotationAssertion( "Dissecting Cellulitis of the Scalp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007562"^^xsd:string) AnnotationAssertion(rdfs:label "Perifolliculitis Capitis Abscedens Et Suffodiens, Familial"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Halal Setton Wang Syndrome) AnnotationAssertion( "MESH:C535621"^^xsd:string) AnnotationAssertion( "Hidrotic ectodermal dysplasia Halal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007563"^^xsd:string) AnnotationAssertion(rdfs:label "Halal Setton Wang Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fatal Pneumococcal Waterhouse-Friderichsen Syndrome) AnnotationAssertion( "RDO:0002330"^^xsd:string) AnnotationAssertion( "MESH:C536685"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007565"^^xsd:string) AnnotationAssertion(rdfs:label "Fatal Pneumococcal Waterhouse-Friderichsen Syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ritscher-Schinzel Syndrome 4) AnnotationAssertion( "Characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation, hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Caused by heterozygous mutation in the DPYSL5 gene on chromosome 2p23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T14:41:47Z"^^xsd:string) AnnotationAssertion( "MIM:619435"^^xsd:string) AnnotationAssertion( "RTSC4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007567"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Circulating Neoplastic Cells) AnnotationAssertion(Annotation( "MESH:D009360"^^xsd:string) "Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors."^^xsd:string) AnnotationAssertion( "MESH:D009360"^^xsd:string) AnnotationAssertion( "Circulating Neoplastic Cell"^^xsd:string) AnnotationAssertion( "Circulating Tumor Cell"^^xsd:string) AnnotationAssertion( "Embolic Tumor Cell"^^xsd:string) AnnotationAssertion( "Embolic Tumor Cells"^^xsd:string) AnnotationAssertion( "Neoplasm Circulating Cell"^^xsd:string) AnnotationAssertion( "Neoplasm Circulating Cells"^^xsd:string) AnnotationAssertion( "Tumor Embolism"^^xsd:string) AnnotationAssertion( "circulating tumor cells"^^xsd:string) AnnotationAssertion( "tumor embolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007568"^^xsd:string) AnnotationAssertion(rdfs:label "Circulating Neoplastic Cells"^^xsd:string) SubClassOf( ) # Class: (Incomplete Sertoli Cell-Only Syndrome) AnnotationAssertion( "MESH:C564033"^^xsd:string) AnnotationAssertion( "RDO:0013132"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007569"^^xsd:string) AnnotationAssertion(rdfs:label "Incomplete Sertoli Cell-Only Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620445"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-08-29T09:35:39Z"^^xsd:string) AnnotationAssertion( "MIM:620445"^^xsd:string) AnnotationAssertion( "NEDMIM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007570"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperlipoproteinemias) AnnotationAssertion(Annotation( "MESH:D006951"^^xsd:string) "Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation."^^xsd:string) AnnotationAssertion( "MESH:D006951"^^xsd:string) AnnotationAssertion( "Hyperlipoproteinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007571"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlipoproteinemias"^^xsd:string) SubClassOf( ) # Class: (Congenital Deafness, with Vitiligo and Achalasia) AnnotationAssertion( "MIM:221350"^^xsd:string) AnnotationAssertion( "MESH:C565642"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007572"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Deafness, with Vitiligo and Achalasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Flatfoot) AnnotationAssertion(Annotation( "MESH:D005413"^^xsd:string) "A foot anomaly in which one or more of the arches of the foot have flattened out."^^xsd:string) AnnotationAssertion( "EFO:0003874"^^xsd:string) AnnotationAssertion( "MESH:D005413"^^xsd:string) AnnotationAssertion( "Acquired Adult Flatfoot Deformity"^^xsd:string) AnnotationAssertion( "CALCANEOVALGUS DEFORMITY"^^xsd:string) AnnotationAssertion( "Convex Foot"^^xsd:string) AnnotationAssertion( "Convex Pes Valgus"^^xsd:string) AnnotationAssertion( "Flat Feet"^^xsd:string) AnnotationAssertion( "Flat Foot"^^xsd:string) AnnotationAssertion( "Flatfeet"^^xsd:string) AnnotationAssertion( "Flexible Flatfoot"^^xsd:string) AnnotationAssertion( "Pes Planus"^^xsd:string) AnnotationAssertion( "Rigid Flatfoot"^^xsd:string) AnnotationAssertion( "Talipes Calcaneovalgus"^^xsd:string) AnnotationAssertion( "Talipes Valgus"^^xsd:string) AnnotationAssertion( "Vertical Talus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007573"^^xsd:string) AnnotationAssertion(rdfs:label "Flatfoot"^^xsd:string) SubClassOf( ) # Class: (Osteoid Osteoma) AnnotationAssertion(Annotation( "MESH:D010017"^^xsd:string) "Benign circumscribed tumor of SPONGY BONE occurring especially in the bones of the extremities and vertebrae, most often in young persons."^^xsd:string) AnnotationAssertion( "MIM:259550"^^xsd:string) AnnotationAssertion( "MESH:D010017"^^xsd:string) AnnotationAssertion( "NCI:C3297"^^xsd:string) AnnotationAssertion( "Osteoid Osteomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007574"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoid Osteoma"^^xsd:string) SubClassOf( ) # Class: (chronic rhinosinusitis with nasal polyps) AnnotationAssertion(Annotation( "EFO:1002029"^^xsd:string) "This is a type of chronic rhinosinusitis that is characterized by the presence of nasal polyps."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-24T16:26:48Z"^^xsd:string) AnnotationAssertion( "EFO:1002029"^^xsd:string) AnnotationAssertion( "CRSwNP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007575"^^xsd:string) AnnotationAssertion(rdfs:label "chronic rhinosinusitis with nasal polyps"^^xsd:string) SubClassOf( ) # Class: (Scorpion Stings) AnnotationAssertion(Annotation( "MESH:D065008"^^xsd:string) "The effects, both local and systemic, caused by the bite of SCORPIONS."^^xsd:string) AnnotationAssertion( "MESH:D065008"^^xsd:string) AnnotationAssertion( "Scorpion Sting"^^xsd:string) AnnotationAssertion( "Scorpionism"^^xsd:string) AnnotationAssertion( "Scorpionisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007576"^^xsd:string) AnnotationAssertion(rdfs:label "Scorpion Stings"^^xsd:string) SubClassOf( ) # Class: (Jervell And Lange-Nielsen Syndrome 2) AnnotationAssertion( "MIM:612347"^^xsd:string) AnnotationAssertion( "KCNE1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567343"^^xsd:string) AnnotationAssertion( "RDO:0015438"^^xsd:string) AnnotationAssertion( "Jlns2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007577"^^xsd:string) AnnotationAssertion(rdfs:label "Jervell And Lange-Nielsen Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT) AnnotationAssertion( "This is a disease syndrome which includes global developmental delay, developmental regression, loss of independent ambulation, decreased body weight, decreased body height, and various other symptoms."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-27T14:29:33Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007578"^^xsd:string) AnnotationAssertion(rdfs:label "LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arbovirus Infections) AnnotationAssertion(Annotation( "MESH:D001102"^^xsd:string) "Infections caused by arthropod-borne viruses, general or unspecified."^^xsd:string) AnnotationAssertion( "EFO:1001269"^^xsd:string) AnnotationAssertion( "MESH:D001102"^^xsd:string) AnnotationAssertion( "Arbovirus Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007579"^^xsd:string) AnnotationAssertion(rdfs:label "Arbovirus Infections"^^xsd:string) SubClassOf( ) # Class: (Elliott Ludman Teebi Syndrome) AnnotationAssertion( "MESH:C536204"^^xsd:string) AnnotationAssertion( "RDO:0001684"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007580"^^xsd:string) AnnotationAssertion(rdfs:label "Elliott Ludman Teebi Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 6) AnnotationAssertion( "MIM:612201"^^xsd:string) AnnotationAssertion( "RDO:0015478"^^xsd:string) AnnotationAssertion( "NPPA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C567400"^^xsd:string) AnnotationAssertion( "ATFB6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007581"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 6"^^xsd:string) SubClassOf( ) # Class: (Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase) AnnotationAssertion( "MIM:240000"^^xsd:string) AnnotationAssertion( "MESH:C565489"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007582"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cysts) AnnotationAssertion(Annotation( "MESH:D003560"^^xsd:string) "Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues."^^xsd:string) AnnotationAssertion( "EFO:1000232"^^xsd:string) AnnotationAssertion( "EFO:1000390"^^xsd:string) AnnotationAssertion( "MESH:D003560"^^xsd:string) AnnotationAssertion( "Cyst"^^xsd:string) AnnotationAssertion( "Endometrial Cyst"^^xsd:string) AnnotationAssertion( "Nabothian Cyst"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007583"^^xsd:string) AnnotationAssertion(rdfs:label "Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Von Willebrand Factor, Deficiency) AnnotationAssertion( "RDO:0000237"^^xsd:string) AnnotationAssertion( "MESH:C531844"^^xsd:string) AnnotationAssertion( "REDUCED VON WILLEBRAND FACTOR ACTIVITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007584"^^xsd:string) AnnotationAssertion(rdfs:label "Von Willebrand Factor, Deficiency"^^xsd:string) SubClassOf( ) # Class: (Postpartum Hemorrhage) AnnotationAssertion(Annotation( "MESH:D006473"^^xsd:string) "Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum)."^^xsd:string) AnnotationAssertion( "EFO:0009579"^^xsd:string) AnnotationAssertion( "MESH:D006473"^^xsd:string) AnnotationAssertion( "Delayed Postpartum Hemorrhage"^^xsd:string) AnnotationAssertion( "Immediate Postpartum Hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007585"^^xsd:string) AnnotationAssertion(rdfs:label "Postpartum Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER) AnnotationAssertion(Annotation( "MIM:620782"^^xsd:string) "This disease is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients)."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-28T12:46:32Z"^^xsd:string) AnnotationAssertion( "MIM:620782"^^xsd:string) AnnotationAssertion( "NEDLAAD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007586"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 74) AnnotationAssertion(Annotation( "MIM:620688"^^xsd:string) "A disease characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features. Caused by heterozygous mutation in the HNRNPC gene on chromosome 14q11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-05T09:33:01Z"^^xsd:string) AnnotationAssertion( "MIM:620688"^^xsd:string) AnnotationAssertion( "MRD74"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007587"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 74"^^xsd:string) SubClassOf( ) # Class: (Heart Injuries) AnnotationAssertion(Annotation( "MESH:D006335"^^xsd:string) "General or unspecified injuries to the heart."^^xsd:string) AnnotationAssertion( "EFO:0009506"^^xsd:string) AnnotationAssertion( "MESH:D006335"^^xsd:string) AnnotationAssertion( "Heart Injury"^^xsd:string) AnnotationAssertion( "Traumatic Cardiac Rupture"^^xsd:string) AnnotationAssertion( "Traumatic Cardiac Ruptures"^^xsd:string) AnnotationAssertion( "Traumatic Heart Rupture"^^xsd:string) AnnotationAssertion( "Traumatic Heart Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007588"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Injuries"^^xsd:string) SubClassOf( ) # Class: (Ventriculomegaly with Defects of the Radius and Kidney) AnnotationAssertion( "MIM:602200"^^xsd:string) AnnotationAssertion( "MESH:C566565"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007589"^^xsd:string) AnnotationAssertion(rdfs:label "Ventriculomegaly with Defects of the Radius and Kidney"^^xsd:string) SubClassOf( ) # Class: (Gouty Arthritis) AnnotationAssertion(Annotation( "MESH:D015210"^^xsd:string) "Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints."^^xsd:string) AnnotationAssertion( "MESH:D015210"^^xsd:string) AnnotationAssertion( "Gouty Arthritides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007590"^^xsd:string) AnnotationAssertion(rdfs:label "Gouty Arthritis"^^xsd:string) SubClassOf( ) # Class: (Hypermetabolism due to Defect in Mitochondria) AnnotationAssertion( "MIM:238800"^^xsd:string) AnnotationAssertion( "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING"^^xsd:string) AnnotationAssertion( "MESH:C565498"^^xsd:string) AnnotationAssertion( "HUMOP1"^^xsd:string) AnnotationAssertion( "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-1"^^xsd:string) AnnotationAssertion( "Luft syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007591"^^xsd:string) AnnotationAssertion(rdfs:label "Hypermetabolism due to Defect in Mitochondria"^^xsd:string) SubClassOf( ) # Class: (Malocclusion, Angle Class I) AnnotationAssertion(Annotation( "MESH:D008311"^^xsd:string) "Malocclusion in which the mandible and maxilla are anteroposteriorly normal as reflected by the relationship of the first permanent molar (i.e., in neutroclusion), but in which individual teeth are abnormally related to each other."^^xsd:string) AnnotationAssertion( "MESH:D008311"^^xsd:string) AnnotationAssertion( "RDO:0006055"^^xsd:string) AnnotationAssertion( "Angle Class I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007592"^^xsd:string) AnnotationAssertion(rdfs:label "Malocclusion, Angle Class I"^^xsd:string) SubClassOf( ) # Class: (Naguib-Richieri-Costa Syndrome) AnnotationAssertion( "MIM:239710"^^xsd:string) AnnotationAssertion( "RDO:0004296"^^xsd:string) AnnotationAssertion( "MESH:C538332"^^xsd:string) AnnotationAssertion( "Acrofrontofacionasal Dysostosis with Genitourinary Anomalies"^^xsd:string) AnnotationAssertion( "Acrofrontofacionasal dysostosis, severe"^^xsd:string) AnnotationAssertion( "Hypertelorism, Hypospadias, and Polysyndactyly Syndrome"^^xsd:string) AnnotationAssertion( "Naguib syndrome"^^xsd:string) AnnotationAssertion( "acrofrontofacionasal dysostosis 2"^^xsd:string) AnnotationAssertion( "hypertelorism hypospadias polysyndactyly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007593"^^xsd:string) AnnotationAssertion(rdfs:label "Naguib-Richieri-Costa Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Canine Hip Dysplasia) AnnotationAssertion(Annotation( "MESH:D006619"^^xsd:string) "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age."^^xsd:string) AnnotationAssertion( "MESH:D006619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007594"^^xsd:string) AnnotationAssertion(rdfs:label "Canine Hip Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome) AnnotationAssertion( "Syndrome with clinical features of both ASTHMA and COPD. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T12:46:31Z"^^xsd:string) AnnotationAssertion( "MESH:D000080445"^^xsd:string) AnnotationAssertion( "Asthma-COPD Overlap Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007595"^^xsd:string) AnnotationAssertion(rdfs:label "Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome"^^xsd:string) SubClassOf( ) # Class: (Car Factor Deficiency) AnnotationAssertion( "MIM:114650"^^xsd:string) AnnotationAssertion( "MESH:C566176"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007596"^^xsd:string) AnnotationAssertion(rdfs:label "Car Factor Deficiency"^^xsd:string) SubClassOf( ) # Class: (Thyroid Cancer, Nonmedullary, 5) AnnotationAssertion( "RDO:9000786"^^xsd:string) AnnotationAssertion( "MIM:616535"^^xsd:string) AnnotationAssertion( "NMTC5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "susceptibility to nonmedullary thyroid cancer-5"^^xsd:string) AnnotationAssertion( "DOID:9007597"^^xsd:string) AnnotationAssertion(rdfs:label "Thyroid Cancer, Nonmedullary, 5"^^xsd:string) SubClassOf( ) # Class: (gastric hemorrhage) AnnotationAssertion(Annotation( "NCI:C54582"^^xsd:string) "This is bleeding from the gastric wall."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-08T14:46:24Z"^^xsd:string) AnnotationAssertion( "EFO:0009879"^^xsd:string) AnnotationAssertion( "stomach hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007598"^^xsd:string) AnnotationAssertion(rdfs:label "gastric hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Ocular Onchocerciasis) AnnotationAssertion(Annotation( "MESH:D015827"^^xsd:string) "Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa."^^xsd:string) AnnotationAssertion( "EFO:0007398"^^xsd:string) AnnotationAssertion( "MESH:D015827"^^xsd:string) AnnotationAssertion( "Ocular Onchocerciases"^^xsd:string) AnnotationAssertion( "River Blindness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007599"^^xsd:string) AnnotationAssertion(rdfs:label "Ocular Onchocerciasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Renal and Mullerian Duct Hypoplasia) AnnotationAssertion( "MIM:266810"^^xsd:string) AnnotationAssertion( "MESH:C564853"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007600"^^xsd:string) AnnotationAssertion(rdfs:label "Renal and Mullerian Duct Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (endotoxin shock) AnnotationAssertion(Annotation( "PMID:34715589"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Lipopolysaccharide"^^xsd:string) "When endotoxemia, a condition characterized by the presence of endotoxins (bacterial lipopolysacharrides) in the blood is accompanied by hypotension despite adequate fluid infusion, it is called endotoxin shock. On lysis of, or secretion by gram-negative bacteria, bacterial lipopolysacharride (LPS) enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-02-01T18:12:02Z"^^xsd:string) AnnotationAssertion( "septic shock"^^xsd:string) AnnotationAssertion( "EFO:0006834"^^xsd:string) AnnotationAssertion( "endotoxic shock"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007601"^^xsd:string) AnnotationAssertion(rdfs:label "endotoxin shock"^^xsd:string) SubClassOf( ) # Class: (Sillence Syndrome) AnnotationAssertion( "MIM:113450"^^xsd:string) AnnotationAssertion( "MESH:C537338"^^xsd:string) AnnotationAssertion( "Brachydactyly-distal symphalangism syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007602"^^xsd:string) AnnotationAssertion(rdfs:label "Sillence Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D018213"^^xsd:string) "Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones."^^xsd:string) AnnotationAssertion( "RDO:0006252"^^xsd:string) AnnotationAssertion( "MESH:D018213"^^xsd:string) AnnotationAssertion( "Bony Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "bone tissue neoplasm"^^xsd:string) AnnotationAssertion( "bony tissue neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007603"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Hemoglobin M Disease) AnnotationAssertion( "MESH:C581942"^^xsd:string) AnnotationAssertion( "RDO:0015941"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN M (SASKATOON)"^^xsd:string) AnnotationAssertion( "DOID:9007604"^^xsd:string) AnnotationAssertion(rdfs:label "Hemoglobin M Disease"^^xsd:string) SubClassOf( ) # Class: (Renal Hypouricemia) AnnotationAssertion( "MIM:220150"^^xsd:string) AnnotationAssertion( "MESH:C537757"^^xsd:string) AnnotationAssertion( "Dalmatian hypouricemia"^^xsd:string) AnnotationAssertion( "HEREDITARY RENAL HYPOURICEMIA"^^xsd:string) AnnotationAssertion( "Hypouricemia, Renal, 1"^^xsd:string) AnnotationAssertion( "RHUC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007605"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypouricemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619841"^^xsd:string) "This disease is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-10T13:49:48Z"^^xsd:string) AnnotationAssertion( "MIM:619841"^^xsd:string) AnnotationAssertion( "CHOCNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007606"^^xsd:string) AnnotationAssertion(rdfs:label "CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES) AnnotationAssertion(Annotation( "MIM:619797"^^xsd:string) "This disease is an autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and nonspecific brain abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-05-05T17:09:38Z"^^xsd:string) AnnotationAssertion( "MIM:619797"^^xsd:string) AnnotationAssertion( "HDAC4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEDCHF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007607"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neoplastic Cell Transformation) AnnotationAssertion(Annotation( "MESH:D002471"^^xsd:string) "Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill."^^xsd:string) AnnotationAssertion( "MIM:614401"^^xsd:string) AnnotationAssertion( "MESH:D002471"^^xsd:string) AnnotationAssertion( "ACTFS"^^xsd:string) AnnotationAssertion( "Cell Neoplastic Transformations"^^xsd:string) AnnotationAssertion( "tumorigenic transformation"^^xsd:string) AnnotationAssertion( "tumorigenic transformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007608"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplastic Cell Transformation"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Freiberg's Disease) AnnotationAssertion( "MESH:C535636"^^xsd:string) AnnotationAssertion( "Freiberg's infraction"^^xsd:string) AnnotationAssertion( "Freiberg-Kohler syndrome"^^xsd:string) AnnotationAssertion( "Kohler's second disease"^^xsd:string) AnnotationAssertion( "Second metatarsal osteochondrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007610"^^xsd:string) AnnotationAssertion(rdfs:label "Freiberg's Disease"^^xsd:string) SubClassOf( ) # Class: (Chromosome 21 Ring) AnnotationAssertion( "MESH:C537109"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007611"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 21 Ring"^^xsd:string) SubClassOf( ) # Class: (Arachnoid Cysts) AnnotationAssertion(Annotation( "MESH:D016080"^^xsd:string) "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)"^^xsd:string) AnnotationAssertion( "MIM:207790"^^xsd:string) AnnotationAssertion( "MESH:D016080"^^xsd:string) AnnotationAssertion( "Arachnoid Cyst"^^xsd:string) AnnotationAssertion( "Arachnoid Diverticula"^^xsd:string) AnnotationAssertion( "Arachnoid Diverticulas"^^xsd:string) AnnotationAssertion( "Intracranial Arachnoid Cyst"^^xsd:string) AnnotationAssertion( "Intracranial Arachnoid Cysts"^^xsd:string) AnnotationAssertion( "Leptomeningeal Cyst"^^xsd:string) AnnotationAssertion( "Leptomeningeal Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007612"^^xsd:string) AnnotationAssertion(rdfs:label "Arachnoid Cysts"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Paroxysmal Atrial Fibrillation) AnnotationAssertion( "A sudden onset and/or short duration of an abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart."^^xsd:string) AnnotationAssertion( "PAF"^^xsd:string) AnnotationAssertion( "intermittent atrial fibrillation"^^xsd:string) AnnotationAssertion( "paroxysmal atrial fibrillations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007614"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Atrial Fibrillation"^^xsd:string) SubClassOf( ) # Class: (Primary Ciliary Dyskinesia 53) AnnotationAssertion(Annotation( "MIM:620642"^^xsd:string) "An autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms. Caused by homozygous mutation in the calaxin gene (CLXN) on chromosome 8q11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-04T13:00:08Z"^^xsd:string) AnnotationAssertion( "MIM:620642"^^xsd:string) AnnotationAssertion( "CILD53"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007615"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ciliary Dyskinesia 53"^^xsd:string) SubClassOf( ) # Class: (Polyglucosan Body Myopathy 1 with or without Immunodeficiency) AnnotationAssertion( "An autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615895"^^xsd:string) AnnotationAssertion( "PBMEI"^^xsd:string) AnnotationAssertion( "PGBM1"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "polyglucosan body myopathy-1"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY 1 WITHOUT IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH IMMUNODEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007616"^^xsd:string) AnnotationAssertion(rdfs:label "Polyglucosan Body Myopathy 1 with or without Immunodeficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Conotruncal Cardiac Defects) AnnotationAssertion( "MIM:217095"^^xsd:string) AnnotationAssertion( "EFO:0005679"^^xsd:string) AnnotationAssertion( "MESH:C535464"^^xsd:string) AnnotationAssertion( "MONDO:0016581"^^xsd:string) AnnotationAssertion( "CONOTRUNCAL DEFECT"^^xsd:string) AnnotationAssertion( "CTHM"^^xsd:string) AnnotationAssertion( "Truncus arteriosus communis"^^xsd:string) AnnotationAssertion( "conotruncal heart defect"^^xsd:string) AnnotationAssertion( "conotruncal heart malformations"^^xsd:string) AnnotationAssertion( "CAFS"^^xsd:string) AnnotationAssertion( "CONOTRUNCAL ANOMALY FACE SYNDROME"^^xsd:string) AnnotationAssertion( "DORV"^^xsd:string) AnnotationAssertion( "DOUBLE-OUTLET RIGHT VENTRICLE"^^xsd:string) AnnotationAssertion( "INTERRUPTED AORTIC ARCH"^^xsd:string) AnnotationAssertion( "PERSISTENT TRUNCUS ARTERIOSUS"^^xsd:string) AnnotationAssertion( "PTA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007617"^^xsd:string) AnnotationAssertion(rdfs:label "Conotruncal Cardiac Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fractures, Multiple) AnnotationAssertion(Annotation( "MESH:D000069076"^^xsd:string) "Injuries involving the breaking of either several bones or one bone in two or more places."^^xsd:string) AnnotationAssertion( "EFO:0009513"^^xsd:string) AnnotationAssertion( "MESH:D000069076"^^xsd:string) AnnotationAssertion( "RDO:0016005"^^xsd:string) AnnotationAssertion( "multiple bone fractures"^^xsd:string) AnnotationAssertion( "multiple fractures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007618"^^xsd:string) AnnotationAssertion(rdfs:label "Fractures, Multiple"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Mediterranean Fever, Autosomal Dominant) AnnotationAssertion( "MIM:134610"^^xsd:string) AnnotationAssertion( "FMF, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "Familial Mediterranean fever, AD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007619"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Mediterranean Fever, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Triple X Syndrome) AnnotationAssertion( "MESH:C535318"^^xsd:string) AnnotationAssertion( "NCI:C129718"^^xsd:string) AnnotationAssertion( "RDO:0000369"^^xsd:string) AnnotationAssertion( "47,XXX syndrome"^^xsd:string) AnnotationAssertion( "47,Xxx"^^xsd:string) AnnotationAssertion( "Super female"^^xsd:string) AnnotationAssertion( "Triple-X chromosome syndrome"^^xsd:string) AnnotationAssertion( "Triple-X female"^^xsd:string) AnnotationAssertion( "Triplo X syndrome"^^xsd:string) AnnotationAssertion( "Trisomy X"^^xsd:string) AnnotationAssertion( "XXX syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007620"^^xsd:string) AnnotationAssertion(rdfs:label "Triple X Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Craniocerebral Trauma) AnnotationAssertion(Annotation( "MESH:D006259"^^xsd:string) "Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage."^^xsd:string) AnnotationAssertion( "EFO:0009505"^^xsd:string) AnnotationAssertion( "MESH:D006259"^^xsd:string) AnnotationAssertion( "RDO:0005059"^^xsd:string) AnnotationAssertion( "Craniocerebral Injuries"^^xsd:string) AnnotationAssertion( "Craniocerebral Injury"^^xsd:string) AnnotationAssertion( "Craniocerebral Traumas"^^xsd:string) AnnotationAssertion( "Crushing Skull Injuries"^^xsd:string) AnnotationAssertion( "Crushing Skull Injury"^^xsd:string) AnnotationAssertion( "Forehead Trauma"^^xsd:string) AnnotationAssertion( "Forehead Traumas"^^xsd:string) AnnotationAssertion( "Frontal Region Trauma"^^xsd:string) AnnotationAssertion( "Frontal Region Traumas"^^xsd:string) AnnotationAssertion( "Head Injuries"^^xsd:string) AnnotationAssertion( "Head Injury"^^xsd:string) AnnotationAssertion( "Head Trauma"^^xsd:string) AnnotationAssertion( "Head Traumas"^^xsd:string) AnnotationAssertion( "Minor Head Injuries"^^xsd:string) AnnotationAssertion( "Minor Head Injury"^^xsd:string) AnnotationAssertion( "Multiple Head Injuries"^^xsd:string) AnnotationAssertion( "Multiple Head Injury"^^xsd:string) AnnotationAssertion( "Occipital Region Trauma"^^xsd:string) AnnotationAssertion( "Occipital Region Traumas"^^xsd:string) AnnotationAssertion( "Occipital Trauma"^^xsd:string) AnnotationAssertion( "Occipital Traumas"^^xsd:string) AnnotationAssertion( "Open Head Injuries"^^xsd:string) AnnotationAssertion( "Open Head Injury"^^xsd:string) AnnotationAssertion( "Parietal Region Trauma"^^xsd:string) AnnotationAssertion( "Parietal Region Traumas"^^xsd:string) AnnotationAssertion( "Superficial Head Injuries"^^xsd:string) AnnotationAssertion( "Superficial Head Injury"^^xsd:string) AnnotationAssertion( "Temporal Region Trauma"^^xsd:string) AnnotationAssertion( "Temporal Region Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007621"^^xsd:string) AnnotationAssertion(rdfs:label "Craniocerebral Trauma"^^xsd:string) SubClassOf( ) # Class: (Acute Subdural Hematoma) AnnotationAssertion(Annotation( "MESH:D020199"^^xsd:string) "Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."^^xsd:string) AnnotationAssertion( "MESH:D020199"^^xsd:string) AnnotationAssertion( "acute subdural hematomas"^^xsd:string) AnnotationAssertion( "acute subdural hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007622"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Subdural Hematoma"^^xsd:string) SubClassOf( ) # Class: (Late-Onset Carnitine Palmitoyltransferase II Deficiency) AnnotationAssertion( "MIM:255110"^^xsd:string) AnnotationAssertion( "RDO:0012709"^^xsd:string) AnnotationAssertion( "MESH:C563461"^^xsd:string) AnnotationAssertion( "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED"^^xsd:string) AnnotationAssertion( "Carnitine Palmitoyltransferase II Deficiency, Adult-Onset"^^xsd:string) AnnotationAssertion( "Carnitine Palmitoyltransferase II Deficiency, Myopathic"^^xsd:string) AnnotationAssertion( "late-onset CPT2 deficiency"^^xsd:string) AnnotationAssertion( "myopathic CPT II deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007623"^^xsd:string) AnnotationAssertion(rdfs:label "Late-Onset Carnitine Palmitoyltransferase II Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Frints De Smet Fabry Fryns Syndrome) AnnotationAssertion( "GARD:1680"^^xsd:string) AnnotationAssertion( "MESH:C538062"^^xsd:string) AnnotationAssertion( "MONDO:0015516"^^xsd:string) AnnotationAssertion( "ORDO:1570"^^xsd:string) AnnotationAssertion( "Symbrachydactyly of the hand and foot"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007624"^^xsd:string) AnnotationAssertion(rdfs:label "Frints De Smet Fabry Fryns Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 28) AnnotationAssertion( "Characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. Caused by homozygous mutation in the RRP7A gene on chromosome 22q13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-29T16:16:52Z"^^xsd:string) AnnotationAssertion( "MIM:619453"^^xsd:string) AnnotationAssertion( "MCPH28"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007625"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 28"^^xsd:string) SubClassOf( ) # Class: (Myosclerosis, Autosomal Recessive) AnnotationAssertion( "MIM:255600"^^xsd:string) AnnotationAssertion( "MESH:C564968"^^xsd:string) AnnotationAssertion( "MYOSCLEROSIS"^^xsd:string) AnnotationAssertion( "Myopathy, Myosclerotic"^^xsd:string) AnnotationAssertion( "congenital myosclerosis of Lowenthal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007626"^^xsd:string) AnnotationAssertion(rdfs:label "Myosclerosis, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Porokeratosis 1, Multiple Types) AnnotationAssertion( "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK1) are caused by heterozygous mutation in the PMVK gene gene on chromosome 1q21. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:175800"^^xsd:string) AnnotationAssertion( "Mibelli porokeratosis"^^xsd:string) AnnotationAssertion( "POROK1"^^xsd:string) AnnotationAssertion( "porokeratosis of Mibelli"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007627"^^xsd:string) AnnotationAssertion(rdfs:label "Porokeratosis 1, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 118) AnnotationAssertion(Annotation( "MIM:301115"^^xsd:string) "A disease characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Caused by hemizygous mutation in the MCTS1 gene on chromosome Xq24."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:36:04Z"^^xsd:string) AnnotationAssertion( "MIM:301115"^^xsd:string) AnnotationAssertion( "IMD118"^^xsd:string) AnnotationAssertion( "Immunodeficiency 118, mycobacteriosis"^^xsd:string) AnnotationAssertion( "Immunodeficiency 118, mycobacteriosis, X-linked recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007628"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 118"^^xsd:string) SubClassOf( ) # Class: (Urological Manifestations) AnnotationAssertion(Annotation( "MESH:D020924"^^xsd:string) "Clinical disturbances of the urinary system."^^xsd:string) AnnotationAssertion( "MESH:D020924"^^xsd:string) AnnotationAssertion( "Urological Manifestation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007629"^^xsd:string) AnnotationAssertion(rdfs:label "Urological Manifestations"^^xsd:string) SubClassOf( ) # Class: (Parasitic Skin Diseases) AnnotationAssertion(Annotation( "MESH:D012876"^^xsd:string) "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites."^^xsd:string) AnnotationAssertion( "MESH:D012876"^^xsd:string) AnnotationAssertion( "Parasitic Skin Disease"^^xsd:string) AnnotationAssertion( "parasitic skin disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007630"^^xsd:string) AnnotationAssertion(rdfs:label "Parasitic Skin Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intrauterine Device Migration) AnnotationAssertion(Annotation( "MESH:D058736"^^xsd:string) "The shifting in position or location of an INTRAUTERINE DEVICE from its original placement."^^xsd:string) AnnotationAssertion( "MESH:D058736"^^xsd:string) AnnotationAssertion( "RDO:0007851"^^xsd:string) AnnotationAssertion( "IUD Migration"^^xsd:string) AnnotationAssertion( "IUD Migrations"^^xsd:string) AnnotationAssertion( "Intrauterine Device Migrations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007631"^^xsd:string) AnnotationAssertion(rdfs:label "Intrauterine Device Migration"^^xsd:string) SubClassOf( ) # Class: (Encephalocraniocutaneous Lipomatosis) AnnotationAssertion( "MIM:613001"^^xsd:string) AnnotationAssertion( "MESH:C535736"^^xsd:string) AnnotationAssertion( "ECCL"^^xsd:string) AnnotationAssertion( "Fishman syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007632"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalocraniocutaneous Lipomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Body Weight) AnnotationAssertion(Annotation( "MESH:D001835"^^xsd:string) "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms."^^xsd:string) AnnotationAssertion( "EFO:0004338"^^xsd:string) AnnotationAssertion( "MESH:D001835"^^xsd:string) AnnotationAssertion( "Body Weights"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Not4Curation"^^xsd:string) AnnotationAssertion( "DOID:9007633"^^xsd:string) AnnotationAssertion(rdfs:label "Body Weight"^^xsd:string) SubClassOf( ) # Class: (Wrist Injuries) AnnotationAssertion(Annotation( "MESH:D014954"^^xsd:string) "Injuries to the wrist or the wrist joint."^^xsd:string) AnnotationAssertion( "MESH:D014954"^^xsd:string) AnnotationAssertion( "RDO:0006834"^^xsd:string) AnnotationAssertion( "Wrist Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007634"^^xsd:string) AnnotationAssertion(rdfs:label "Wrist Injuries"^^xsd:string) SubClassOf( ) # Class: (Progressive Supranuclear Palsy 3) AnnotationAssertion( "MIM:610898"^^xsd:string) AnnotationAssertion( "MESH:C567050"^^xsd:string) AnnotationAssertion( "PSNP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007635"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Supranuclear Palsy 3"^^xsd:string) SubClassOf( ) # Class: (Tick Bites) AnnotationAssertion(Annotation( "MESH:D064927"^^xsd:string) "The effects, both local and systemic, caused by the bites of TICKS."^^xsd:string) AnnotationAssertion( "MESH:D064927"^^xsd:string) AnnotationAssertion( "Tick Bite"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007636"^^xsd:string) AnnotationAssertion(rdfs:label "Tick Bites"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Photogenic Epilepsy with Spastic Diplegia and Mental Retardation) AnnotationAssertion( "MIM:226800"^^xsd:string) AnnotationAssertion( "MESH:C565587"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007638"^^xsd:string) AnnotationAssertion(rdfs:label "Photogenic Epilepsy with Spastic Diplegia and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metabolic Side Effects of Drugs and Substances) AnnotationAssertion(Annotation( "MESH:D065606"^^xsd:string) "Specific effects of drugs and substances on metabolic pathways such as those occurring through the CYTOCHROME P-450 ENZYME SYSTEM. These include effects that often result in DRUG INTERACTIONS; FOOD-DRUG INTERACTIONS; and HERB-DRUG INTERACTIONS."^^xsd:string) AnnotationAssertion( "MESH:D065606"^^xsd:string) AnnotationAssertion( "RDO:0015974"^^xsd:string) AnnotationAssertion( "Drug Effects on Metabolism"^^xsd:string) AnnotationAssertion( "Metabolic Side Effects of Drugs"^^xsd:string) AnnotationAssertion( "Metabolic Side Effects of Substances"^^xsd:string) AnnotationAssertion( "Substance Effects on Metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007639"^^xsd:string) AnnotationAssertion(rdfs:label "Metabolic Side Effects of Drugs and Substances"^^xsd:string) SubClassOf( ) # Class: (Congenital Pseudoarthrosis) AnnotationAssertion( "MESH:C535762"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007640"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Pseudoarthrosis"^^xsd:string) SubClassOf( ) # Class: (Cataract and Congenital Ichthyosis) AnnotationAssertion( "MIM:212400"^^xsd:string) AnnotationAssertion( "MESH:C538281"^^xsd:string) AnnotationAssertion( "Syndromic cataract and congenital ichthyosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007641"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract and Congenital Ichthyosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Embryonal Rhabdomyosarcoma 1) AnnotationAssertion( "MIM:268210"^^xsd:string) AnnotationAssertion( "MESH:C537883"^^xsd:string) AnnotationAssertion( "RMS1"^^xsd:string) AnnotationAssertion( "RMSCR"^^xsd:string) AnnotationAssertion( "RMSE1"^^xsd:string) AnnotationAssertion( "Rhabdomyosarcoma 1"^^xsd:string) AnnotationAssertion( "Rhabdomyosarcoma Chromosomal Region"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007643"^^xsd:string) AnnotationAssertion(rdfs:label "Embryonal Rhabdomyosarcoma 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 15q, partial deletion) AnnotationAssertion( "MESH:C538038"^^xsd:string) AnnotationAssertion( "RDO:0003972"^^xsd:string) AnnotationAssertion( "Deletion 15q1"^^xsd:string) AnnotationAssertion( "Deletion 15q25"^^xsd:string) AnnotationAssertion( "Monosomy 15q1"^^xsd:string) AnnotationAssertion( "Monosomy 15q25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007645"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15q, partial deletion"^^xsd:string) SubClassOf( ) # Class: (Chromosome 4, Trisomy 4q) AnnotationAssertion( "MESH:C537644"^^xsd:string) AnnotationAssertion( "Duplication 4q"^^xsd:string) AnnotationAssertion( "Trisomy 4q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007646"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 4, Trisomy 4q"^^xsd:string) SubClassOf( ) # Class: (Trichiasis) AnnotationAssertion(Annotation( "MESH:D058457"^^xsd:string) "A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids."^^xsd:string) AnnotationAssertion( "MESH:D058457"^^xsd:string) AnnotationAssertion( "Trichiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007647"^^xsd:string) AnnotationAssertion(rdfs:label "Trichiasis"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 11) AnnotationAssertion(Annotation( "MIM:620654"^^xsd:string) "A syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. Caused by heterozygous mutation in the RAP1B gene on chromosome 12q14."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-05T15:20:35Z"^^xsd:string) AnnotationAssertion( "MIM:620654"^^xsd:string) AnnotationAssertion( "THC11"^^xsd:string) AnnotationAssertion( "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007648"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 11"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Disorder of Glycosylation Type IIaa) AnnotationAssertion(Annotation( "MIM:620454"^^xsd:string) "An autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects. Caused by homozygous mutation in the STX5 gene on chromosome 11q12."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-28T11:34:57Z"^^xsd:string) AnnotationAssertion( "MIM:620454"^^xsd:string) AnnotationAssertion( "CDG IIaa"^^xsd:string) AnnotationAssertion( "CDG2AA"^^xsd:string) AnnotationAssertion( "CDGIIAA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007649"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Disorder of Glycosylation Type IIaa"^^xsd:string) SubClassOf( ) # Class: (Unconsciousness) AnnotationAssertion(Annotation( "MESH:D014474"^^xsd:string) "Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)"^^xsd:string) AnnotationAssertion( "MESH:D014474"^^xsd:string) AnnotationAssertion( "Loss of Consciousness"^^xsd:string) AnnotationAssertion( "Unconscious State"^^xsd:string) AnnotationAssertion( "Unconscious States"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007650"^^xsd:string) AnnotationAssertion(rdfs:label "Unconsciousness"^^xsd:string) SubClassOf( ) # Class: (Chronic Bronchitis) AnnotationAssertion(Annotation( "MESH:D029481"^^xsd:string) "A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis."^^xsd:string) AnnotationAssertion( "EFO:0006505"^^xsd:string) AnnotationAssertion( "MESH:D029481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007651"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Bronchitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (C1q Deficiency 3) AnnotationAssertion(Annotation( "MIM:620322"^^xsd:string) "A C1q deficiency caused by homozygous mutation in the C1QC gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-14T09:02:24Z"^^xsd:string) AnnotationAssertion( "MIM:620322"^^xsd:string) AnnotationAssertion( "C1QD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007652"^^xsd:string) AnnotationAssertion(rdfs:label "C1q Deficiency 3"^^xsd:string) SubClassOf( ) # Class: (Multiple Abnormalities) AnnotationAssertion(Annotation( "MESH:D000015"^^xsd:string) "Congenital abnormalities that affect more than one organ or body structure."^^xsd:string) AnnotationAssertion( "H3-3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "H3F3A-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MESH:D000015"^^xsd:string) AnnotationAssertion( "MULTIPLE CONGENITAL ANOMALIES"^^xsd:string) AnnotationAssertion( "Multisystem Disorder"^^xsd:string) AnnotationAssertion( "H3F3A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Multiple congenital anomalies-hypotonia-seizures syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007653"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Abnormalities"^^xsd:string) SubClassOf( ) # Class: (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL) AnnotationAssertion(Annotation( "MIM:620734"^^xsd:string) "A disease characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension. Caused by homozygous mutation in the CORIN gene on chromosome 4p12."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T11:52:11Z"^^xsd:string) AnnotationAssertion( "MIM:620734"^^xsd:string) AnnotationAssertion( "CMH30"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007654"^^xsd:string) AnnotationAssertion(rdfs:label "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL"^^xsd:string) SubClassOf( ) # Class: (Propofol Infusion Syndrome) AnnotationAssertion(Annotation( "MESH:D000072736"^^xsd:string) "Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE."^^xsd:string) AnnotationAssertion( "MESH:D000072736"^^xsd:string) AnnotationAssertion( "RDO:0016125"^^xsd:string) AnnotationAssertion( "Propofol Infusion Syndromes"^^xsd:string) AnnotationAssertion( "Propofol Related Infusion Syndrome"^^xsd:string) AnnotationAssertion( "Propofol Syndrome"^^xsd:string) AnnotationAssertion( "Propofol Syndromes"^^xsd:string) AnnotationAssertion( "Propofol-Related Infusion Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007655"^^xsd:string) AnnotationAssertion(rdfs:label "Propofol Infusion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Laryngeal Adductor Paralysis) AnnotationAssertion( "MIM:150270"^^xsd:string) AnnotationAssertion( "MESH:C562861"^^xsd:string) AnnotationAssertion( "RDO:0012397"^^xsd:string) AnnotationAssertion( "LAP"^^xsd:string) AnnotationAssertion( "Vocal Cord Dysfunction, Adductor Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007656"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Adductor Paralysis"^^xsd:string) SubClassOf( ) # Class: (Chromosome 13q Deletion Syndrome) AnnotationAssertion( "RDO:0000621"^^xsd:string) AnnotationAssertion( "MESH:C535484"^^xsd:string) AnnotationAssertion( "13q deletion syndrome"^^xsd:string) AnnotationAssertion( "Chromosome 13q deletion"^^xsd:string) AnnotationAssertion( "Chromosome 13q monosomy"^^xsd:string) AnnotationAssertion( "Chromosome 13q syndrome"^^xsd:string) AnnotationAssertion( "Deletion 13q"^^xsd:string) AnnotationAssertion( "Monosomy 13q"^^xsd:string) AnnotationAssertion( "Monosomy 13q syndrome"^^xsd:string) AnnotationAssertion( "Orbeli syndrome"^^xsd:string) AnnotationAssertion( "Orbeli's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007657"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13q Deletion Syndrome"^^xsd:string) SubClassOf( ) # Class: (McDonough Syndrome) AnnotationAssertion( "MIM:248950"^^xsd:string) AnnotationAssertion( "MESH:C538158"^^xsd:string) AnnotationAssertion( "Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007658"^^xsd:string) AnnotationAssertion(rdfs:label "McDonough Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anthracycline-induced Cardiotoxicity) AnnotationAssertion( "Cardiomyopathy in cancer patients caused by the use of the drug anthracyline."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "anthracycline-induced cardiomyopathy"^^xsd:string) AnnotationAssertion( "acute ACT"^^xsd:string) AnnotationAssertion( "acute anthracycline-induced cardiomyopathy"^^xsd:string) AnnotationAssertion( "chronic ACT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007659"^^xsd:string) AnnotationAssertion(rdfs:label "Anthracycline-induced Cardiotoxicity"^^xsd:string) SubClassOf( ) # Class: (Pallister-Hall-like Syndrome) AnnotationAssertion( "MIM:241800"^^xsd:string) AnnotationAssertion( "MESH:C537158"^^xsd:string) AnnotationAssertion( "PHLS"^^xsd:string) AnnotationAssertion( "hamartoma of the hypothalamus"^^xsd:string) AnnotationAssertion( "hypothalamic hamartoma"^^xsd:string) AnnotationAssertion( "hypothalamic hamartomas"^^xsd:string) AnnotationAssertion( "CHHS"^^xsd:string) AnnotationAssertion( "congenital hypothalamic hamartoma syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007660"^^xsd:string) AnnotationAssertion(rdfs:label "Pallister-Hall-like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dwarfism) AnnotationAssertion(Annotation( "MESH:D004392"^^xsd:string) "A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height."^^xsd:string) AnnotationAssertion( "OMIA:001772"^^xsd:string) AnnotationAssertion( "HP:0004322"^^xsd:string) AnnotationAssertion( "MESH:D004392"^^xsd:string) AnnotationAssertion( "Nanism"^^xsd:string) AnnotationAssertion( "short stature"^^xsd:string) AnnotationAssertion( "DISPROPORTIONATE SHORT STATURE"^^xsd:string) AnnotationAssertion( "SD2"^^xsd:string) AnnotationAssertion( "Skeletal dysplasia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007661"^^xsd:string) AnnotationAssertion(rdfs:label "Dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dwarfism with Tall Vertebrae) AnnotationAssertion( "MIM:126950"^^xsd:string) AnnotationAssertion( "MESH:C535725"^^xsd:string) AnnotationAssertion( "Dwarfism Tall Vertebrae"^^xsd:string) AnnotationAssertion( "Dwarfism with disproportionately high vertebral bodies"^^xsd:string) AnnotationAssertion( "Short stature and tall vertebrae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007662"^^xsd:string) AnnotationAssertion(rdfs:label "Dwarfism with Tall Vertebrae"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Frontotemporal Pachygyria) AnnotationAssertion( "MIM:610279"^^xsd:string) AnnotationAssertion( "MESH:C538092"^^xsd:string) AnnotationAssertion( "Autosomal recessive frontotemporal pachygyria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007663"^^xsd:string) AnnotationAssertion(rdfs:label "Frontotemporal Pachygyria"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bardet-Biedl Syndrome 1/7, Digenic) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-28T11:44:14Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007665"^^xsd:string) AnnotationAssertion(rdfs:label "Bardet-Biedl Syndrome 1/7, Digenic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nanophthalmos 3) AnnotationAssertion( "MIM:611897"^^xsd:string) AnnotationAssertion( "MESH:C567498"^^xsd:string) AnnotationAssertion( "NNO3"^^xsd:string) AnnotationAssertion( "Nanophthalmia 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007666"^^xsd:string) AnnotationAssertion(rdfs:label "Nanophthalmos 3"^^xsd:string) SubClassOf( ) # Class: (Heart Defects Limb Shortening) AnnotationAssertion( "MIM:212135"^^xsd:string) AnnotationAssertion( "MESH:C535850"^^xsd:string) AnnotationAssertion( "Cardioskeletal syndrome, Kuwaiti type"^^xsd:string) AnnotationAssertion( "Congenital heart disease and skeletal malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007667"^^xsd:string) AnnotationAssertion(rdfs:label "Heart Defects Limb Shortening"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carnitine Palmitoyltransferase II Deficiency, Infantile) AnnotationAssertion( "MIM:600649"^^xsd:string) AnnotationAssertion( "RDO:0012710"^^xsd:string) AnnotationAssertion( "MESH:C563462"^^xsd:string) AnnotationAssertion( "carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia"^^xsd:string) AnnotationAssertion( "hepatic CPT II deficiency"^^xsd:string) AnnotationAssertion( "hepatocardiomuscular carnitine palmitoyltransferase II deficiency"^^xsd:string) AnnotationAssertion( "infantile CPT2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007668"^^xsd:string) AnnotationAssertion(rdfs:label "Carnitine Palmitoyltransferase II Deficiency, Infantile"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Capillaro-Venous Leptomeningeal Angiomatosis) AnnotationAssertion( "MESH:C536609"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007669"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Capillaro-Venous Leptomeningeal Angiomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alopecia Areata 1) AnnotationAssertion( "MIM:104000"^^xsd:string) AnnotationAssertion( "MESH:C566303"^^xsd:string) AnnotationAssertion( "AA1"^^xsd:string) AnnotationAssertion( "ALOPECIA UNIVERSALIS"^^xsd:string) AnnotationAssertion( "AU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007670"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia Areata 1"^^xsd:string) SubClassOf( ) # Class: (Familial Isolated Pituitary Adenoma) AnnotationAssertion( "RDO:0011980"^^xsd:string) AnnotationAssertion( "MESH:C566321"^^xsd:string) AnnotationAssertion( "familial isolated pituitary adenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007671"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Isolated Pituitary Adenoma"^^xsd:string) SubClassOf( ) # Class: (Reardon Wilson Cavanagh Syndrome) AnnotationAssertion( "MIM:208850"^^xsd:string) AnnotationAssertion( "MESH:C535295"^^xsd:string) AnnotationAssertion( "ADR syndrome"^^xsd:string) AnnotationAssertion( "Ataxia, hearing loss, and mental retardation"^^xsd:string) AnnotationAssertion( "Ataxia-deafness-retardation syndrome"^^xsd:string) AnnotationAssertion( "Familial ataxia, deafness, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007672"^^xsd:string) AnnotationAssertion(rdfs:label "Reardon Wilson Cavanagh Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metatarsus Varus, Type I) AnnotationAssertion( "MIM:156520"^^xsd:string) AnnotationAssertion( "MESH:C563585"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007673"^^xsd:string) AnnotationAssertion(rdfs:label "Metatarsus Varus, Type I"^^xsd:string) SubClassOf( ) # Class: (Keppen-Lubinsky Syndrome) AnnotationAssertion( "A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614098"^^xsd:string) AnnotationAssertion( "RDO:9001621"^^xsd:string) AnnotationAssertion( "KCNJ6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "KPLBS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007674"^^xsd:string) AnnotationAssertion(rdfs:label "Keppen-Lubinsky Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pallister Killian Syndrome) AnnotationAssertion( "Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10). (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:601803"^^xsd:string) AnnotationAssertion( "MESH:C538105"^^xsd:string) AnnotationAssertion( "NCI:C75458"^^xsd:string) AnnotationAssertion( "Isochromosome 12p syndrome"^^xsd:string) AnnotationAssertion( "PKS"^^xsd:string) AnnotationAssertion( "Pallister-Killian Mosaic Syndrome"^^xsd:string) AnnotationAssertion( "Pallister-Killian Syndrome"^^xsd:string) AnnotationAssertion( "Teschler-Nicola-Killian Syndrome"^^xsd:string) AnnotationAssertion( "hexasomy 12p, mosaic"^^xsd:string) AnnotationAssertion( "tetrasomy 12p, mosaic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007675"^^xsd:string) AnnotationAssertion(rdfs:label "Pallister Killian Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION) AnnotationAssertion(Annotation( "MIM:620795"^^xsd:string) "This disease is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Laboratory studies show leukocytosis and inflammatory markers (C-reactive protein and erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal. Autoantibodies are not present. The features are consistent with immune dysregulation. Treatment with TNF inhibitors may result in significant clinical improvement."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-09T15:29:31Z"^^xsd:string) AnnotationAssertion( "MIM:620795"^^xsd:string) AnnotationAssertion( "AIFID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007676"^^xsd:string) AnnotationAssertion(rdfs:label "AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 67) AnnotationAssertion(Annotation( "MIM:619927"^^xsd:string) "Characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Caused by heterozygous mutation in the GRIA1 gene on chromosome 5q33."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-06-30T16:33:56Z"^^xsd:string) AnnotationAssertion( "MIM:619927"^^xsd:string) AnnotationAssertion( "MRD67"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 67"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007677"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 67"^^xsd:string) SubClassOf( ) # Class: (Dermatoosteolysis Kirghizian Type) AnnotationAssertion( "MIM:221810"^^xsd:string) AnnotationAssertion( "MESH:C535373"^^xsd:string) AnnotationAssertion( "Kirghizian dermatoosteolysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007678"^^xsd:string) AnnotationAssertion(rdfs:label "Dermatoosteolysis Kirghizian Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic recurrent multifocal osteomyelitis 3) AnnotationAssertion(Annotation( "MIM:259680"^^xsd:string) "An autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. Caused by heterozygous mutation in the IL1R1 gene on chromosome 2q12."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-04-30T13:13:18Z"^^xsd:string) AnnotationAssertion( "MIM:259680"^^xsd:string) AnnotationAssertion( "CRMO3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007679"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic recurrent multifocal osteomyelitis 3"^^xsd:string) SubClassOf( ) # Class: (Nuclear Type Mitochondrial Complex I Deficiency 39) AnnotationAssertion(Annotation( "MIM:620135"^^xsd:string) "An autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. Caused by homozygous mutation in NDUFB7 gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-28T09:03:00Z"^^xsd:string) AnnotationAssertion( "MIM:620135"^^xsd:string) AnnotationAssertion( "MC1DN39"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007680"^^xsd:string) AnnotationAssertion(rdfs:label "Nuclear Type Mitochondrial Complex I Deficiency 39"^^xsd:string) SubClassOf( ) # Class: (Nonvital Tooth) AnnotationAssertion(Annotation( "MESH:D019553"^^xsd:string) "A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)"^^xsd:string) AnnotationAssertion( "MESH:D019553"^^xsd:string) AnnotationAssertion( "Devitalized Teeth"^^xsd:string) AnnotationAssertion( "Devitalized Tooth"^^xsd:string) AnnotationAssertion( "Endodontically-Treated Teeth"^^xsd:string) AnnotationAssertion( "Endodontically-Treated Tooth"^^xsd:string) AnnotationAssertion( "Nonvital Teeth"^^xsd:string) AnnotationAssertion( "pulpless teeth"^^xsd:string) AnnotationAssertion( "pulpless tooth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007681"^^xsd:string) AnnotationAssertion(rdfs:label "Nonvital Tooth"^^xsd:string) SubClassOf( ) # Class: (Trichohepatoneurodevelopmental Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-09T14:21:33Z"^^xsd:string) AnnotationAssertion( "MIM:618268"^^xsd:string) AnnotationAssertion( "THNS"^^xsd:string) AnnotationAssertion( "global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007682"^^xsd:string) AnnotationAssertion(rdfs:label "Trichohepatoneurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cutaneous Small Vessel Lymphocytic Vasculitis) AnnotationAssertion( "MIM:609817"^^xsd:string) AnnotationAssertion( "MESH:C565222"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007684"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Small Vessel Lymphocytic Vasculitis"^^xsd:string) SubClassOf( ) # Class: (Cytosolic Acetoacetyl-CoA Thiolase Deficiency) AnnotationAssertion( "MIM:614055"^^xsd:string) AnnotationAssertion( "MESH:C536005"^^xsd:string) AnnotationAssertion( "RDO:0001412"^^xsd:string) AnnotationAssertion( "ACAT2D"^^xsd:string) AnnotationAssertion( "Acat2 Deficiency"^^xsd:string) AnnotationAssertion( "Acetocoenzyme A acetyltransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "Acetyl-coa acetyltransferase 2 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007685"^^xsd:string) AnnotationAssertion(rdfs:label "Cytosolic Acetoacetyl-CoA Thiolase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Cerebrocortical Degeneration of Infancy) AnnotationAssertion( "MIM:213950"^^xsd:string) AnnotationAssertion( "MESH:C565863"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007686"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrocortical Degeneration of Infancy"^^xsd:string) SubClassOf( ) # Class: (Weil Disease) AnnotationAssertion(Annotation( "MESH:D014895"^^xsd:string) "A severe form of LEPTOSPIROSIS, usually caused by LEPTOSPIRA INTERROGANS SEROVAR ICTEROHAEMORRHAGIAE and occasionally other serovars. It is transmitted to humans by the rat and is characterized by hemorrhagic and renal symptoms with accompanying JAUNDICE."^^xsd:string) AnnotationAssertion( "MESH:C540322"^^xsd:string) AnnotationAssertion( "MESH:D014895"^^xsd:string) AnnotationAssertion( "Swineherd's disease"^^xsd:string) AnnotationAssertion( "Weil's disease"^^xsd:string) AnnotationAssertion( "Weils disease"^^xsd:string) AnnotationAssertion( "canicola fever"^^xsd:string) AnnotationAssertion( "hemorrhagic jaundice"^^xsd:string) AnnotationAssertion( "icterohemorrhagic fever"^^xsd:string) AnnotationAssertion( "icterohemorrhagic leptospirosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007687"^^xsd:string) AnnotationAssertion(rdfs:label "Weil Disease"^^xsd:string) SubClassOf( ) # Class: (Chronic Subdural Hematoma) AnnotationAssertion(Annotation( "MESH:D020200"^^xsd:string) "Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."^^xsd:string) AnnotationAssertion( "MESH:D020200"^^xsd:string) AnnotationAssertion( "chronic subdural hematomas"^^xsd:string) AnnotationAssertion( "chronic subdural hemorrhage"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007688"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Subdural Hematoma"^^xsd:string) SubClassOf( ) # Class: (Mosaic Variegated Aneuploidy Syndrome 4) AnnotationAssertion(Annotation( "MIM:620153"^^xsd:string) "An autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy. Caused by compound heterozygous mutation in the CENATAC gene on chromosome 11q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T08:34:27Z"^^xsd:string) AnnotationAssertion( "MIM:620153"^^xsd:string) AnnotationAssertion( "MVA4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007689"^^xsd:string) AnnotationAssertion(rdfs:label "Mosaic Variegated Aneuploidy Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Vulvar Dysesthesia Localized in the Vestibule) AnnotationAssertion( "MESH:C548479"^^xsd:string) AnnotationAssertion( "RDO:0004672"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007690"^^xsd:string) AnnotationAssertion(rdfs:label "Vulvar Dysesthesia Localized in the Vestibule"^^xsd:string) SubClassOf( ) # Class: (Fat Necrosis) AnnotationAssertion(Annotation( "MESH:D005218"^^xsd:string) "A condition in which the death of adipose tissue results in neutral fats being split into fatty acids and glycerol."^^xsd:string) AnnotationAssertion( "RDO:0005576"^^xsd:string) AnnotationAssertion( "MESH:D005218"^^xsd:string) AnnotationAssertion( "Fat Necroses"^^xsd:string) AnnotationAssertion( "Steatonecroses"^^xsd:string) AnnotationAssertion( "Steatonecrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007691"^^xsd:string) AnnotationAssertion(rdfs:label "Fat Necrosis"^^xsd:string) SubClassOf( ) # Class: (Insulin Resistance) AnnotationAssertion(Annotation( "MESH:D007333"^^xsd:string) "Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS."^^xsd:string) AnnotationAssertion( "EFO:0002614"^^xsd:string) AnnotationAssertion( "MESH:D007333"^^xsd:string) AnnotationAssertion( "RDO:0003504"^^xsd:string) AnnotationAssertion( "Insulin Sensitivity"^^xsd:string) AnnotationAssertion( "Insulin Resistance Syndrome, Type A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF"^^xsd:string) AnnotationAssertion( "Insulin Resistance, Susceptibility To"^^xsd:string) AnnotationAssertion( "Serum hdl cholesterol level, modifier of"^^xsd:string) AnnotationAssertion( "DOID:9007692"^^xsd:string) AnnotationAssertion(rdfs:label "Insulin Resistance"^^xsd:string) SubClassOf( ) # Class: (CAPOS Syndrome) AnnotationAssertion( "MIM:601338"^^xsd:string) AnnotationAssertion( "MESH:C535351"^^xsd:string) AnnotationAssertion( "CAPOS"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss"^^xsd:string) AnnotationAssertion( "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007693"^^xsd:string) AnnotationAssertion(rdfs:label "CAPOS Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (COACH Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-02T10:45:20Z"^^xsd:string) AnnotationAssertion( "MIM:619113"^^xsd:string) AnnotationAssertion( "COACH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007694"^^xsd:string) AnnotationAssertion(rdfs:label "COACH Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Coloboma of Alar-Nasal Cartilages with Telecanthus) AnnotationAssertion( "MIM:203000"^^xsd:string) AnnotationAssertion( "MESH:C535967"^^xsd:string) AnnotationAssertion( "frontonasal dysplasia with alar clefts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007695"^^xsd:string) AnnotationAssertion(rdfs:label "Coloboma of Alar-Nasal Cartilages with Telecanthus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parathyroid Cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9003919"^^xsd:string) AnnotationAssertion( "cancer of parathyroid"^^xsd:string) AnnotationAssertion( "cancer of the parathyroid"^^xsd:string) AnnotationAssertion( "parathyroid cancers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007696"^^xsd:string) AnnotationAssertion(rdfs:label "Parathyroid Cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 6A) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-09T09:38:13Z"^^xsd:string) AnnotationAssertion( "MIM:601152"^^xsd:string) AnnotationAssertion( "CMT6A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease 6A"^^xsd:string) AnnotationAssertion( "HMSN VIA"^^xsd:string) AnnotationAssertion( "HMSN6A"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, type VIA"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy, type VIA, with optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007697"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 6A"^^xsd:string) SubClassOf( ) # Class: (Copper Deficiency, Familial Benign) AnnotationAssertion( "MIM:121270"^^xsd:string) AnnotationAssertion( "MESH:C535468"^^xsd:string) AnnotationAssertion( "Familial benign hypocupremia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007698"^^xsd:string) AnnotationAssertion(rdfs:label "Copper Deficiency, Familial Benign"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Capillary Leak Syndrome with Monoclonal Gammopathy) AnnotationAssertion( "MESH:C535573"^^xsd:string) AnnotationAssertion( "Periodic systemic capillary leak syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007699"^^xsd:string) AnnotationAssertion(rdfs:label "Capillary Leak Syndrome with Monoclonal Gammopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Corneal Opacities, Cornea Guttata, and Corectopia) AnnotationAssertion( "MIM:608484"^^xsd:string) AnnotationAssertion( "MESH:C563921"^^xsd:string) AnnotationAssertion( "Corneal Opacities, Congenital, with Cornea Guttata and Corectopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007700"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Corneal Opacities, Cornea Guttata, and Corectopia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Central Nervous System Neoplasms) AnnotationAssertion(Annotation( "MESH:D016543"^^xsd:string) "Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges."^^xsd:string) AnnotationAssertion( "EFO:1000158"^^xsd:string) AnnotationAssertion( "MESH:D016543"^^xsd:string) AnnotationAssertion( "NCI:C9293"^^xsd:string) AnnotationAssertion( "central nervous system tumor"^^xsd:string) AnnotationAssertion( "central nervous system tumors"^^xsd:string) AnnotationAssertion( "neoplasm of central nervous system"^^xsd:string) AnnotationAssertion( "neoplasm of the central nervous system"^^xsd:string) AnnotationAssertion( "primary central nervous system neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007701"^^xsd:string) AnnotationAssertion(rdfs:label "Central Nervous System Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Carcinogenesis) AnnotationAssertion(Annotation( "MESH:D063646"^^xsd:string) "The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years."^^xsd:string) AnnotationAssertion( "MESH:D063646"^^xsd:string) AnnotationAssertion( "Carcinogeneses"^^xsd:string) AnnotationAssertion( "Oncogeneses"^^xsd:string) AnnotationAssertion( "Oncogenesis"^^xsd:string) AnnotationAssertion( "Tumorigeneses"^^xsd:string) AnnotationAssertion( "Tumorigenesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007702"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinogenesis"^^xsd:string) SubClassOf( ) # Class: (Phenacetin O-Deethylase, Deficiency of) AnnotationAssertion( "OMIA:001405"^^xsd:string) AnnotationAssertion( "MESH:C565127"^^xsd:string) AnnotationAssertion( "RDO:0013854"^^xsd:string) AnnotationAssertion( "PHENACETIN METABOLISM, DEFECT IN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Metabolizer of a cognitive enhancer"^^xsd:string) AnnotationAssertion( "DOID:9007703"^^xsd:string) AnnotationAssertion(rdfs:label "Phenacetin O-Deethylase, Deficiency of"^^xsd:string) SubClassOf( ) # Class: (Physical Microtrauma) AnnotationAssertion(Annotation( "MESH:D000070617"^^xsd:string) "Small injuries caused by external force applied to the body including bones, muscles, nerves and tendons."^^xsd:string) AnnotationAssertion( "MESH:D000070617"^^xsd:string) AnnotationAssertion( "Physical Micro Trauma"^^xsd:string) AnnotationAssertion( "Physical Micro Traumas"^^xsd:string) AnnotationAssertion( "Physical Microtraumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007704"^^xsd:string) AnnotationAssertion(rdfs:label "Physical Microtrauma"^^xsd:string) SubClassOf( ) # Class: (Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration) AnnotationAssertion( "MIM:602685"^^xsd:string) AnnotationAssertion( "MESH:C566429"^^xsd:string) AnnotationAssertion( "MRST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007705"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MASS Syndrome) AnnotationAssertion( "MIM:604308"^^xsd:string) AnnotationAssertion( "MESH:C536030"^^xsd:string) AnnotationAssertion( "Mass phenotype"^^xsd:string) AnnotationAssertion( "OCTD"^^xsd:string) AnnotationAssertion( "Overlap connective tissue disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007706"^^xsd:string) AnnotationAssertion(rdfs:label "MASS Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (BCG and Salmonella Infection, Disseminated) AnnotationAssertion( "MESH:C565908"^^xsd:string) AnnotationAssertion( "RDO:0014422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007707"^^xsd:string) AnnotationAssertion(rdfs:label "BCG and Salmonella Infection, Disseminated"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, E) AnnotationAssertion( "MESH:C564233"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007708"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, E"^^xsd:string) SubClassOf( ) # Class: (Membranoproliferative Glomerulonephritis, X-Linked) AnnotationAssertion( "MIM:305800"^^xsd:string) AnnotationAssertion( "MESH:C564423"^^xsd:string) AnnotationAssertion( "RDO:0013392"^^xsd:string) AnnotationAssertion( "Mesangiocapillary Glomerulonephritis, X-Linked"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007709"^^xsd:string) AnnotationAssertion(rdfs:label "Membranoproliferative Glomerulonephritis, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE) AnnotationAssertion( "A severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617301"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007710"^^xsd:string) AnnotationAssertion(rdfs:label "GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE"^^xsd:string) SubClassOf( ) # Class: (ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis) AnnotationAssertion( "MIM:607626"^^xsd:string) AnnotationAssertion( "MESH:C564365"^^xsd:string) AnnotationAssertion( "CLDN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ILVASC"^^xsd:string) AnnotationAssertion( "Ichthyosis-Sclerosing Cholangitis Syndrome"^^xsd:string) AnnotationAssertion( "Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome"^^xsd:string) AnnotationAssertion( "Nisch syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007711"^^xsd:string) AnnotationAssertion(rdfs:label "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adenosine Monophosphate Deaminase Deficiency) AnnotationAssertion( "MESH:C538234"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007712"^^xsd:string) AnnotationAssertion(rdfs:label "Adenosine Monophosphate Deaminase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Hypospadias 3, Autosomal) AnnotationAssertion( "MIM:146450"^^xsd:string) AnnotationAssertion( "MESH:C567191"^^xsd:string) AnnotationAssertion( "HYSP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007713"^^xsd:string) AnnotationAssertion(rdfs:label "Hypospadias 3, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Mental and Growth Retardation with Amblyopia) AnnotationAssertion( "MIM:156190"^^xsd:string) AnnotationAssertion( "MESH:C563591"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007714"^^xsd:string) AnnotationAssertion(rdfs:label "Mental and Growth Retardation with Amblyopia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Endometrial Neoplasms) AnnotationAssertion(Annotation( "MESH:D016889"^^xsd:string) "Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells."^^xsd:string) AnnotationAssertion( "RDO:0007008"^^xsd:string) AnnotationAssertion( "EFO:0004230"^^xsd:string) AnnotationAssertion( "MESH:D016889"^^xsd:string) AnnotationAssertion( "Endometrial Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007715"^^xsd:string) AnnotationAssertion(rdfs:label "Endometrial Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 8p Deletion Syndrome (partial)) AnnotationAssertion( "MESH:C537826"^^xsd:string) AnnotationAssertion( "RDO:0003730"^^xsd:string) AnnotationAssertion( "8p deletion syndrome (partial)"^^xsd:string) AnnotationAssertion( "8p- syndrome (partial)"^^xsd:string) AnnotationAssertion( "Chromosome 8, monosomy 8p2"^^xsd:string) AnnotationAssertion( "Chromosome 8, monosomy 8p21-pter"^^xsd:string) AnnotationAssertion( "Chromosome 8, partial deletion (short arm)"^^xsd:string) AnnotationAssertion( "Chromosome 8, partial monosomy 8p2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007717"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 8p Deletion Syndrome (partial)"^^xsd:string) SubClassOf( ) # Class: (Platelet-Type Bleeding Disorder 22) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T13:52:24Z"^^xsd:string) AnnotationAssertion( "MIM:618462"^^xsd:string) AnnotationAssertion( "BDPLT22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007718"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet-Type Bleeding Disorder 22"^^xsd:string) SubClassOf( ) # Class: (Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-31T12:39:56Z"^^xsd:string) AnnotationAssertion( "MIM:618646"^^xsd:string) AnnotationAssertion( "DMJDS2"^^xsd:string) AnnotationAssertion( "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007719"^^xsd:string) AnnotationAssertion(rdfs:label "Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Renal Hypouricemia, 2) AnnotationAssertion( "MIM:612076"^^xsd:string) AnnotationAssertion( "MESH:C567426"^^xsd:string) AnnotationAssertion( "RHUC2"^^xsd:string) AnnotationAssertion( "SLC2A9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GOUT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "GOUT SUSCEPTIBILITY 2"^^xsd:string) AnnotationAssertion( "DOID:9007721"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypouricemia, 2"^^xsd:string) SubClassOf( ) # Class: (Myoclonus) AnnotationAssertion(Annotation( "MESH:D009207"^^xsd:string) "Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3)."^^xsd:string) AnnotationAssertion( "MESH:D009207"^^xsd:string) AnnotationAssertion( "MIM:PS614937"^^xsd:string) AnnotationAssertion( "Intention Myoclonus"^^xsd:string) AnnotationAssertion( "Myoclonic Jerk"^^xsd:string) AnnotationAssertion( "Myoclonic Jerking"^^xsd:string) AnnotationAssertion( "Myoclonic Jerks"^^xsd:string) AnnotationAssertion( "Myoclonus Simplex"^^xsd:string) AnnotationAssertion( "Nocturnal Myoclonus"^^xsd:string) AnnotationAssertion( "Oculopalatal Myoclonus"^^xsd:string) AnnotationAssertion( "Palatal Myoclonus"^^xsd:string) AnnotationAssertion( "Polymyoclonus"^^xsd:string) AnnotationAssertion( "action myoclonus"^^xsd:string) AnnotationAssertion( "eyelid myoclonus"^^xsd:string) AnnotationAssertion( "lower extremity myoclonus"^^xsd:string) AnnotationAssertion( "segmental myoclonus"^^xsd:string) AnnotationAssertion( "sleep myoclonus"^^xsd:string) AnnotationAssertion( "upper extremity myoclonus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007722"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonus"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hemorrhagic Septicemia) AnnotationAssertion(Annotation( "MESH:D006483"^^xsd:string) "Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans."^^xsd:string) AnnotationAssertion( "EFO:1001091"^^xsd:string) AnnotationAssertion( "MESH:D006483"^^xsd:string) AnnotationAssertion( "Haemorrhagic Bacteremia"^^xsd:string) AnnotationAssertion( "Haemorrhagic Septicaemia"^^xsd:string) AnnotationAssertion( "Haemorrhagic Septicemia"^^xsd:string) AnnotationAssertion( "Hemorrhagic Bacteremia"^^xsd:string) AnnotationAssertion( "Hemorrhagic Septicaemia"^^xsd:string) AnnotationAssertion( "Pasteurella hemorrhagic septicemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007724"^^xsd:string) AnnotationAssertion(rdfs:label "Hemorrhagic Septicemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 11q Trisomy) AnnotationAssertion( "MESH:C538297"^^xsd:string) AnnotationAssertion( "Duplication 11q"^^xsd:string) AnnotationAssertion( "Trisomy 11q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007725"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 11q Trisomy"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 85) AnnotationAssertion(Annotation( "MIM:620490"^^xsd:string) "A male infertility due to globozoospermia and reduced progressive motility, caused by homozygous mutation in the SPACA1 gene on chromosome 6q15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:30:45Z"^^xsd:string) AnnotationAssertion( "MIM:620490"^^xsd:string) AnnotationAssertion( "SPGF85"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007726"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 85"^^xsd:string) SubClassOf( ) # Class: (Alcohol-Induced Disorders, Nervous System) AnnotationAssertion(Annotation( "MESH:D020268"^^xsd:string) "Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves."^^xsd:string) AnnotationAssertion( "MESH:D020268"^^xsd:string) AnnotationAssertion( "RDO:0004793"^^xsd:string) AnnotationAssertion( "Alcohol Abuse, Nervous System"^^xsd:string) AnnotationAssertion( "Ethanol Induced Nervous System Disorders"^^xsd:string) AnnotationAssertion( "Ethyl Alcohol Abuse Neurologic Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007727"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol-Induced Disorders, Nervous System"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Heavy Chain Disease Proteins, Human) AnnotationAssertion( "MESH:C032598"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007728"^^xsd:string) AnnotationAssertion(rdfs:label "Heavy Chain Disease Proteins, Human"^^xsd:string) SubClassOf( ) # Class: (Multiple Basal Cell Carcinoma) AnnotationAssertion( "RDO:0003533"^^xsd:string) AnnotationAssertion( "MESH:C537656"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007729"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Basal Cell Carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Burns) AnnotationAssertion(Annotation( "MESH:D002056"^^xsd:string) "Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like."^^xsd:string) AnnotationAssertion( "EFO:0009516"^^xsd:string) AnnotationAssertion( "EFO:0020910"^^xsd:string) AnnotationAssertion( "MESH:D002056"^^xsd:string) AnnotationAssertion( "Burn"^^xsd:string) AnnotationAssertion( "thermal burn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007730"^^xsd:string) AnnotationAssertion(rdfs:label "Burns"^^xsd:string) SubClassOf( ) # Class: (Medial Tibial Stress Syndrome) AnnotationAssertion(Annotation( "MESH:D058923"^^xsd:string) "SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity."^^xsd:string) AnnotationAssertion( "EFO:1001367"^^xsd:string) AnnotationAssertion( "MESH:D058923"^^xsd:string) AnnotationAssertion( "Medial Tibial Stress Syndrome (MTSS)"^^xsd:string) AnnotationAssertion( "Shin Splint"^^xsd:string) AnnotationAssertion( "Shin Splints"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007731"^^xsd:string) AnnotationAssertion(rdfs:label "Medial Tibial Stress Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Squalene Synthase Deficiency) AnnotationAssertion(Annotation( "MIM:618156"^^xsd:string) "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-21T11:24:35Z"^^xsd:string) AnnotationAssertion( "EFO:0010167"^^xsd:string) AnnotationAssertion( "MIM:618156"^^xsd:string) AnnotationAssertion( "FDFT1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS"^^xsd:string) AnnotationAssertion( "SQSD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007732"^^xsd:string) AnnotationAssertion(rdfs:label "Squalene Synthase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Renal Hypouricemia due to Tubular Hypersecretion) AnnotationAssertion( "MIM:307830"^^xsd:string) AnnotationAssertion( "MESH:C564405"^^xsd:string) AnnotationAssertion( "FAMILIAL RENAL HYPOURICEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007733"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Renal Hypouricemia due to Tubular Hypersecretion"^^xsd:string) SubClassOf( ) # Class: (1q24 Deletion Syndrome) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-06-24T09:54:06Z"^^xsd:string) AnnotationAssertion( "1Q24-Q25 MICRODELETION SYNDROME"^^xsd:string) AnnotationAssertion( "1Q24Q25 MICRODELETION SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007734"^^xsd:string) AnnotationAssertion(rdfs:label "1q24 Deletion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Antibody Deficiency due to Defect in CD19) AnnotationAssertion( "MESH:C566275"^^xsd:string) AnnotationAssertion( "RDO:0014673"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007735"^^xsd:string) AnnotationAssertion(rdfs:label "Antibody Deficiency due to Defect in CD19"^^xsd:string) SubClassOf( ) # Class: (Vertigo) AnnotationAssertion(Annotation( "MESH:D014717"^^xsd:string) "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)"^^xsd:string) AnnotationAssertion( "MESH:D014717"^^xsd:string) AnnotationAssertion( "Constant Vertigo"^^xsd:string) AnnotationAssertion( "Essential Vertigo"^^xsd:string) AnnotationAssertion( "Intermittant Vertigo"^^xsd:string) AnnotationAssertion( "Paroxysmal Vertigo"^^xsd:string) AnnotationAssertion( "Positional Vertigo"^^xsd:string) AnnotationAssertion( "Spinning Sensation"^^xsd:string) AnnotationAssertion( "Subjective Vertigo"^^xsd:string) AnnotationAssertion( "vertigos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007736"^^xsd:string) AnnotationAssertion(rdfs:label "Vertigo"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Parkinson's Disease 11) AnnotationAssertion( "RDO:0009130"^^xsd:string) AnnotationAssertion( "MESH:C564345"^^xsd:string) AnnotationAssertion( "MIM:607688"^^xsd:string) AnnotationAssertion( "RDO:0013345"^^xsd:string) AnnotationAssertion( "GIGYF2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PARK11"^^xsd:string) AnnotationAssertion( "Parkinson Disease 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Parkinson Disease 11, Autosomal Dominant, Susceptibility To"^^xsd:string) AnnotationAssertion( "Parkinson's Disease 11, Autosomal Dominant, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9007737"^^xsd:string) AnnotationAssertion(rdfs:label "Parkinson's Disease 11"^^xsd:string) SubClassOf( ) # Class: (Broca Aphasia) AnnotationAssertion(Annotation( "MESH:D001039"^^xsd:string) "An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions)."^^xsd:string) AnnotationAssertion( "MESH:D001039"^^xsd:string) AnnotationAssertion( "Agrammatic Broca Aphasia"^^xsd:string) AnnotationAssertion( "Agrammatic Broca Aphasias"^^xsd:string) AnnotationAssertion( "Agrammatic Broca's Aphasia"^^xsd:string) AnnotationAssertion( "Agrammatic Broca's Aphasias"^^xsd:string) AnnotationAssertion( "Agrammatic Brocas Aphasia"^^xsd:string) AnnotationAssertion( "Agrammatism"^^xsd:string) AnnotationAssertion( "Anterior Aphasia"^^xsd:string) AnnotationAssertion( "Anterior Aphasias"^^xsd:string) AnnotationAssertion( "Ataxic Aphasia"^^xsd:string) AnnotationAssertion( "Ataxic Aphasias"^^xsd:string) AnnotationAssertion( "Broca Aphasias"^^xsd:string) AnnotationAssertion( "Broca Dysphasia"^^xsd:string) AnnotationAssertion( "Broca's Dysphasia"^^xsd:string) AnnotationAssertion( "Dysphasia, Brocas"^^xsd:string) AnnotationAssertion( "Expressive Aphasia"^^xsd:string) AnnotationAssertion( "Frontocortical Aphasia"^^xsd:string) AnnotationAssertion( "Frontocortical Aphasias"^^xsd:string) AnnotationAssertion( "Motor Aphasia"^^xsd:string) AnnotationAssertion( "Nonfluent Aphasia"^^xsd:string) AnnotationAssertion( "Verbal Aphasia Syndrome"^^xsd:string) AnnotationAssertion( "Verbal Aphasia Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007738"^^xsd:string) AnnotationAssertion(rdfs:label "Broca Aphasia"^^xsd:string) SubClassOf( ) # Class: (Craniofacial Dysostosis with Diaphyseal Hyperplasia) AnnotationAssertion( "MIM:122900"^^xsd:string) AnnotationAssertion( "MESH:C562974"^^xsd:string) AnnotationAssertion( "Osteosclerosis, Stanescu Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007739"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Dysostosis with Diaphyseal Hyperplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Hypophosphatemia) AnnotationAssertion(Annotation( "MESH:D007015"^^xsd:string) "An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME."^^xsd:string) AnnotationAssertion( "MESH:D007015"^^xsd:string) AnnotationAssertion( "Familial Hypophosphatemias"^^xsd:string) AnnotationAssertion( "Hyperphosphaturia"^^xsd:string) AnnotationAssertion( "Phosphate Diabetes"^^xsd:string) AnnotationAssertion( "Phosphaturia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007740"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hypophosphatemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Early-Onset Glaucoma) AnnotationAssertion( "MESH:C580055"^^xsd:string) AnnotationAssertion( "Hereditary Glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007741"^^xsd:string) AnnotationAssertion(rdfs:label "Early-Onset Glaucoma"^^xsd:string) SubClassOf( ) # Class: (B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations) AnnotationAssertion( "MIM:609296"^^xsd:string) AnnotationAssertion( "MESH:C563745"^^xsd:string) AnnotationAssertion( "BILU Syndrome"^^xsd:string) AnnotationAssertion( "Hoffman Syndrome"^^xsd:string) AnnotationAssertion( "TOP2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007742"^^xsd:string) AnnotationAssertion(rdfs:label "B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Generalized Thyroid Hormone Resistance, Autosomal Dominant) AnnotationAssertion( "MIM:188570"^^xsd:string) AnnotationAssertion( "MESH:C567934"^^xsd:string) AnnotationAssertion( "GRTHD"^^xsd:string) AnnotationAssertion( "Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007743"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Thyroid Hormone Resistance, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Mandibuloacral Dysplasia Progeroid Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-18T11:36:32Z"^^xsd:string) AnnotationAssertion( "MIM:619127"^^xsd:string) AnnotationAssertion( "MDPS"^^xsd:string) AnnotationAssertion( "PROGEROID MANDIBULOACRAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007744"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibuloacral Dysplasia Progeroid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Major Affective Disorder 5) AnnotationAssertion( "MIM:611535"^^xsd:string) AnnotationAssertion( "MESH:C567074"^^xsd:string) AnnotationAssertion( "MAFD5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007745"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 5"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, O) AnnotationAssertion( "MIM:613100"^^xsd:string) AnnotationAssertion( "MESH:C567753"^^xsd:string) AnnotationAssertion( "Glc1o"^^xsd:string) AnnotationAssertion( "Primary Open Angle Glaucoma-1O"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007746"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, O"^^xsd:string) SubClassOf( ) # Class: (Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation) AnnotationAssertion( "MIM:611105"^^xsd:string) AnnotationAssertion( "MESH:C567009"^^xsd:string) AnnotationAssertion( "NCI:C188991"^^xsd:string) AnnotationAssertion( "RDO:0015198"^^xsd:string) AnnotationAssertion( "LBSL"^^xsd:string) AnnotationAssertion( "LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION"^^xsd:string) AnnotationAssertion( "Mitochondrial Aspartyl-tRNA Synthetase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007747"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinal Neovascularization) AnnotationAssertion(Annotation( "MESH:D015861"^^xsd:string) "Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina."^^xsd:string) AnnotationAssertion( "MESH:D015861"^^xsd:string) AnnotationAssertion( "RDO:0006930"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007748"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Neovascularization"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ellis Yale Winter Syndrome) AnnotationAssertion( "MESH:C536205"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007749"^^xsd:string) AnnotationAssertion(rdfs:label "Ellis Yale Winter Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lissencephaly Type III and Bone Dysplasia) AnnotationAssertion( "MIM:601160"^^xsd:string) AnnotationAssertion( "MESH:C563383"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007750"^^xsd:string) AnnotationAssertion(rdfs:label "Lissencephaly Type III and Bone Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypocholesterolemia) AnnotationAssertion( "A decreased concentration of cholesterol in the blood."^^xsd:string) AnnotationAssertion( "RDO:9000334"^^xsd:string) AnnotationAssertion( "Hypocholesteremia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007751"^^xsd:string) AnnotationAssertion(rdfs:label "Hypocholesterolemia"^^xsd:string) SubClassOf( ) # Class: (Chronic Relapsing Experimental Autoimmune Encephalomyelitis) AnnotationAssertion( "A chronic relapsing-remitting version of EAE, an experimental animal model for central nervous system demyelinating disease in which demyelination is extensive."^^xsd:string) AnnotationAssertion( "RDO:9000096"^^xsd:string) AnnotationAssertion( "CR-EAE"^^xsd:string) AnnotationAssertion( "CREAE"^^xsd:string) AnnotationAssertion( "chronic relapsing EAE"^^xsd:string) AnnotationAssertion( "chronic relapsing experimental allergic encephalomyelitis"^^xsd:string) AnnotationAssertion( "chronic relapsing-remitting EAE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007752"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Relapsing Experimental Autoimmune Encephalomyelitis"^^xsd:string) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types, 2) AnnotationAssertion( "MIM:614980"^^xsd:string) AnnotationAssertion( "CHTD2"^^xsd:string) AnnotationAssertion( "Congenital Heart Disease, Multiple Types, 2"^^xsd:string) AnnotationAssertion( "TAB2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007753"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome) AnnotationAssertion( "MIM:604315"^^xsd:string) AnnotationAssertion( "MESH:C565796"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007754"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intestinal Reperfusion Injury) AnnotationAssertion( "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the intestinal tract, including swelling; hemorrhage; necrosis; and damage from free radicals."^^xsd:string) AnnotationAssertion( "intestinal ischemia-reperfusion injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "mesenteric ischemia-reperfusion injury"^^xsd:string) AnnotationAssertion( "mesenteric reperfusion injury"^^xsd:string) AnnotationAssertion( "small intestine reperfusion injury"^^xsd:string) AnnotationAssertion( "DOID:9007755"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Partial Duplication 15q Syndrome) AnnotationAssertion( "MESH:C538036"^^xsd:string) AnnotationAssertion( "RDO:0003970"^^xsd:string) AnnotationAssertion( "Chromosome 15, Trisomy 15q2"^^xsd:string) AnnotationAssertion( "Chromosome 15, distal trisomy 15q"^^xsd:string) AnnotationAssertion( "Distal Duplication 15q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007756"^^xsd:string) AnnotationAssertion(rdfs:label "Partial Duplication 15q Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Catatrichy) AnnotationAssertion( "MIM:116850"^^xsd:string) AnnotationAssertion( "MESH:C535346"^^xsd:string) AnnotationAssertion( "Forelock"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007757"^^xsd:string) AnnotationAssertion(rdfs:label "Catatrichy"^^xsd:string) SubClassOf( ) # Class: (Bartter Syndrome Type 3, with Hypocalciuria) AnnotationAssertion( "MESH:C564578"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007758"^^xsd:string) AnnotationAssertion(rdfs:label "Bartter Syndrome Type 3, with Hypocalciuria"^^xsd:string) SubClassOf( ) # Class: (Male Sterility due to Y-Chromosome Deletions) AnnotationAssertion( "MESH:C536297"^^xsd:string) AnnotationAssertion( "RDO:0001823"^^xsd:string) AnnotationAssertion( "Partial deletion of Y"^^xsd:string) AnnotationAssertion( "Partial deletion of Y chromosome short arm"^^xsd:string) AnnotationAssertion( "Partial deletion of chromosome Y"^^xsd:string) AnnotationAssertion( "Partial deletion of the long arm of the Y chromosome"^^xsd:string) AnnotationAssertion( "Y chromosome deletions"^^xsd:string) AnnotationAssertion( "Y chromosome microdeletions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007759"^^xsd:string) AnnotationAssertion(rdfs:label "Male Sterility due to Y-Chromosome Deletions"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fingerprint Body Myopathy) AnnotationAssertion( "MIM:305550"^^xsd:string) AnnotationAssertion( "MESH:C564425"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007762"^^xsd:string) AnnotationAssertion(rdfs:label "Fingerprint Body Myopathy"^^xsd:string) SubClassOf( ) # Class: (Flushing) AnnotationAssertion(Annotation( "MESH:D005483"^^xsd:string) "A transient reddening of the face that may be due to fever, certain drugs, exertion, stress, or a disease process."^^xsd:string) AnnotationAssertion( "MESH:D005483"^^xsd:string) AnnotationAssertion( "Flushings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007763"^^xsd:string) AnnotationAssertion(rdfs:label "Flushing"^^xsd:string) SubClassOf( ) # Class: (Penoscrotal Transposition) AnnotationAssertion( "MESH:C536650"^^xsd:string) AnnotationAssertion( "Congenital transposition of the penis"^^xsd:string) AnnotationAssertion( "Prepenile scrotum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007764"^^xsd:string) AnnotationAssertion(rdfs:label "Penoscrotal Transposition"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Membranous Cranial Ossification, Delayed) AnnotationAssertion( "MIM:155980"^^xsd:string) AnnotationAssertion( "MESH:C563592"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007765"^^xsd:string) AnnotationAssertion(rdfs:label "Membranous Cranial Ossification, Delayed"^^xsd:string) SubClassOf( ) # Class: (Periodontal Abscess) AnnotationAssertion(Annotation( "MESH:D010508"^^xsd:string) "Localized circumscribed purulent area of inflammation in the periodontal tissue. It is a derivative of marginal periodontitis and commonly associated with suprabony and infrabony pockets and interradicular involvements, in contrast to periapical abscess which is attributable to pulp necrosis."^^xsd:string) AnnotationAssertion( "MESH:D010508"^^xsd:string) AnnotationAssertion( "Periodontal Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007766"^^xsd:string) AnnotationAssertion(rdfs:label "Periodontal Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Maxillofacial Dysostosis) AnnotationAssertion( "MIM:155000"^^xsd:string) AnnotationAssertion( "MESH:C563599"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007767"^^xsd:string) AnnotationAssertion(rdfs:label "Maxillofacial Dysostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Colonic Diverticulosis) AnnotationAssertion(Annotation( "MESH:D043963"^^xsd:string) "A pathological condition characterized by the presence of a number of COLONIC DIVERTICULA in the COLON. Its pathogenesis is multifactorial, including colon aging, motor dysfunction, increases in intraluminal pressure, and lack of dietary fibers."^^xsd:string) AnnotationAssertion( "EFO:0009959"^^xsd:string) AnnotationAssertion( "MESH:D043963"^^xsd:string) AnnotationAssertion( "diverticular disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007768"^^xsd:string) AnnotationAssertion(rdfs:label "Colonic Diverticulosis"^^xsd:string) SubClassOf( ) # Class: (Pseudarthrosis) AnnotationAssertion(Annotation( "MESH:D011542"^^xsd:string) "A pathologic entity characterized by deossification of a weight-bearing long bone, followed by bending and pathologic fracture, with inability to form normal BONY CALLUS leading to existence of the 'false joint' that gives the condition its name. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D011542"^^xsd:string) AnnotationAssertion( "Pseudarthroses"^^xsd:string) AnnotationAssertion( "Pseudoarthroses"^^xsd:string) AnnotationAssertion( "Pseudoarthrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007769"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudarthrosis"^^xsd:string) SubClassOf( ) # Class: (Pancreatic Agenesis 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-14T15:08:53Z"^^xsd:string) AnnotationAssertion( "MIM:615935"^^xsd:string) AnnotationAssertion( "PAGEN2"^^xsd:string) AnnotationAssertion( "PANCREATIC HYPOPLASIA, CONGENITAL 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007770"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Agenesis 2"^^xsd:string) SubClassOf( ) # Class: (Gallbladder Disease 3) AnnotationAssertion( "MIM:609919"^^xsd:string) AnnotationAssertion( "MESH:C563686"^^xsd:string) AnnotationAssertion( "GBD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007771"^^xsd:string) AnnotationAssertion(rdfs:label "Gallbladder Disease 3"^^xsd:string) SubClassOf( ) # Class: (Abdominal Obesity) AnnotationAssertion(Annotation( "MESH:D056128"^^xsd:string) "A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X."^^xsd:string) AnnotationAssertion( "RDO:0007735"^^xsd:string) AnnotationAssertion( "MESH:D056128"^^xsd:string) AnnotationAssertion( "Abdominal Obesities"^^xsd:string) AnnotationAssertion( "Central Obesities"^^xsd:string) AnnotationAssertion( "Central Obesity"^^xsd:string) AnnotationAssertion( "Visceral Obesities"^^xsd:string) AnnotationAssertion( "Visceral Obesity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007772"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Obesity"^^xsd:string) SubClassOf( ) # Class: (Tick Toxicoses) AnnotationAssertion(Annotation( "MESH:D013986"^^xsd:string) "Toxicoses caused by toxic substances secreted by the salivary glands of ticks; include tick paralysis (neurotropic toxin), sweating sickness (dermotropic toxin), and Rhipicephalus appendiculatus toxicosis (leukotropic toxin)."^^xsd:string) AnnotationAssertion( "MESH:D013986"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007773"^^xsd:string) AnnotationAssertion(rdfs:label "Tick Toxicoses"^^xsd:string) SubClassOf( ) # Class: (Birk-Landau-Perez Syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617595"^^xsd:string) AnnotationAssertion( "BILAPES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007774"^^xsd:string) AnnotationAssertion(rdfs:label "Birk-Landau-Perez Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth) AnnotationAssertion( "MIM:608811"^^xsd:string) AnnotationAssertion( "MESH:C537355"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007775"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth"^^xsd:string) SubClassOf( ) # Class: (Hemianopsia) AnnotationAssertion(Annotation( "MESH:D006423"^^xsd:string) "Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes."^^xsd:string) AnnotationAssertion( "MESH:D006423"^^xsd:string) AnnotationAssertion( "Altidudinal Hemianopia"^^xsd:string) AnnotationAssertion( "Altidudinal Hemianopias"^^xsd:string) AnnotationAssertion( "Altitudinal Hemianopsia"^^xsd:string) AnnotationAssertion( "Altitudinal Hemianopsias"^^xsd:string) AnnotationAssertion( "Binasal Hemianopia"^^xsd:string) AnnotationAssertion( "Binasal Hemianopias"^^xsd:string) AnnotationAssertion( "Binasal Hemianopsia"^^xsd:string) AnnotationAssertion( "Binasal Hemianopsias"^^xsd:string) AnnotationAssertion( "Bitemporal Hemianopia"^^xsd:string) AnnotationAssertion( "Bitemporal Hemianopias"^^xsd:string) AnnotationAssertion( "Bitemporal Hemianopsia"^^xsd:string) AnnotationAssertion( "Bitemporal Hemianopsias"^^xsd:string) AnnotationAssertion( "Hemianopia"^^xsd:string) AnnotationAssertion( "Hemianopias"^^xsd:string) AnnotationAssertion( "Hemianopsias"^^xsd:string) AnnotationAssertion( "Homonymous Hemianopia"^^xsd:string) AnnotationAssertion( "Homonymous Hemianopias"^^xsd:string) AnnotationAssertion( "Homonymous Hemianopsia"^^xsd:string) AnnotationAssertion( "Homonymous Hemianopsias"^^xsd:string) AnnotationAssertion( "Quadrantanopia"^^xsd:string) AnnotationAssertion( "Quadrantanopias"^^xsd:string) AnnotationAssertion( "Quadrantanopsia"^^xsd:string) AnnotationAssertion( "Quadrantanopsias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007776"^^xsd:string) AnnotationAssertion(rdfs:label "Hemianopsia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Recurrent Myoglobinuria, Autosomal Recessive) AnnotationAssertion( "MIM:268200"^^xsd:string) AnnotationAssertion( "MESH:C564832"^^xsd:string) AnnotationAssertion( "acute recurrent myoglobinuria"^^xsd:string) AnnotationAssertion( "acute recurrent rhabdomyolysis"^^xsd:string) AnnotationAssertion( "familial paroxysmal paralytic myoglobinuria"^^xsd:string) AnnotationAssertion( "recurrent myoglobinuria, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007777"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Recurrent Myoglobinuria, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Type 2 Diabetes Mellitus 4) AnnotationAssertion( "MIM:608036"^^xsd:string) AnnotationAssertion( "MESH:C564299"^^xsd:string) AnnotationAssertion( "NIDDM4"^^xsd:string) AnnotationAssertion( "T2D4"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus 4"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus type 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007778"^^xsd:string) AnnotationAssertion(rdfs:label "Type 2 Diabetes Mellitus 4"^^xsd:string) SubClassOf( ) # Class: (Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2) AnnotationAssertion( "An autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-11T14:44:40Z"^^xsd:string) AnnotationAssertion( "MIM:619120"^^xsd:string) AnnotationAssertion( "OIEDS syndrome 2"^^xsd:string) AnnotationAssertion( "OIEDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007779"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum) AnnotationAssertion( "MESH:C559045"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007780"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinoschisis, Autosomal Dominant) AnnotationAssertion( "MIM:180270"^^xsd:string) AnnotationAssertion( "MESH:C000598640"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007781"^^xsd:string) AnnotationAssertion(rdfs:label "Retinoschisis, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9, Trisomy 9p) AnnotationAssertion( "MESH:C538029"^^xsd:string) AnnotationAssertion( "RDO:0003963"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007782"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Trisomy 9p"^^xsd:string) SubClassOf( ) # Class: (Vascular Depression) AnnotationAssertion( "This involves the comorbidity of depression and the association of vascular disease."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9000348"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007783"^^xsd:string) AnnotationAssertion(rdfs:label "Vascular Depression"^^xsd:string) SubClassOf( ) # Class: (Telencephalic Leukoencephalopathy) AnnotationAssertion( "MESH:C536954"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007784"^^xsd:string) AnnotationAssertion(rdfs:label "Telencephalic Leukoencephalopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities) AnnotationAssertion( "MESH:C565667"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007786"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carcinoid Tumor) AnnotationAssertion(Annotation( "MESH:D002276"^^xsd:string) "A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)"^^xsd:string) AnnotationAssertion( "EFO:0004243"^^xsd:string) AnnotationAssertion( "EFO:1000097"^^xsd:string) AnnotationAssertion( "MESH:D002276"^^xsd:string) AnnotationAssertion( "Argentaffinoma"^^xsd:string) AnnotationAssertion( "Carcinoid"^^xsd:string) AnnotationAssertion( "Carcinoid Tumors"^^xsd:string) AnnotationAssertion( "Carcinoids"^^xsd:string) AnnotationAssertion( "Goblet Cell Carcinoid"^^xsd:string) AnnotationAssertion( "argentaffinomas"^^xsd:string) AnnotationAssertion( "goblet cell carcinoids"^^xsd:string) AnnotationAssertion( "Atypical Carcinoid Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007787"^^xsd:string) AnnotationAssertion(rdfs:label "Carcinoid Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cardiac-Urogenital Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-04-30T13:23:45Z"^^xsd:string) AnnotationAssertion( "MYRF-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0010645"^^xsd:string) AnnotationAssertion( "MIM:618280"^^xsd:string) AnnotationAssertion( "CUGS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007788"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiac-Urogenital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Communicating Hydrocephalus 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-30T09:25:15Z"^^xsd:string) AnnotationAssertion( "MIM:618667"^^xsd:string) AnnotationAssertion( "HYC4"^^xsd:string) AnnotationAssertion( "HYDCC1"^^xsd:string) AnnotationAssertion( "congenital hydrocephalus 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007789"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Communicating Hydrocephalus 1"^^xsd:string) SubClassOf( ) # Class: (Winter Shortland Temple Syndrome) AnnotationAssertion( "MIM:601707"^^xsd:string) AnnotationAssertion( "MESH:C536735"^^xsd:string) AnnotationAssertion( "CRJS"^^xsd:string) AnnotationAssertion( "Curry Jones syndrome"^^xsd:string) AnnotationAssertion( "asymmetric craniofacial malformations with polysyndactyly and abnormal skin and gut development"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007790"^^xsd:string) AnnotationAssertion(rdfs:label "Winter Shortland Temple Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (MacKay Shek Carr Syndrome) AnnotationAssertion( "MIM:267760"^^xsd:string) AnnotationAssertion( "MESH:C538364"^^xsd:string) AnnotationAssertion( "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma"^^xsd:string) AnnotationAssertion( "retinal degeneration, nanophthalmos, glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007791"^^xsd:string) AnnotationAssertion(rdfs:label "MacKay Shek Carr Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spastic paraplegia 30, autosomal recessive) AnnotationAssertion(Annotation( "MIM:620607"^^xsd:string) "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia with variable age of onset, but usually in the first or second decades of life. Caused by homozygous mutation in the KIF1A gene on chromosome 2q37."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T17:00:05Z"^^xsd:string) AnnotationAssertion( "MESH:C563677"^^xsd:string) AnnotationAssertion( "MIM:620607"^^xsd:string) AnnotationAssertion( "SPG30B"^^xsd:string) AnnotationAssertion( "Spastic paraplegia 30B, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007792"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic paraplegia 30, autosomal recessive"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lower Extremity Deformities, Congenital) AnnotationAssertion(Annotation( "MESH:D038061"^^xsd:string) "Congenital structural abnormalities of the LOWER EXTREMITY."^^xsd:string) AnnotationAssertion( "MESH:D038061"^^xsd:string) AnnotationAssertion( "RDO:0000381"^^xsd:string) AnnotationAssertion( "Lower Limb Deformities, Congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007794"^^xsd:string) AnnotationAssertion(rdfs:label "Lower Extremity Deformities, Congenital"^^xsd:string) SubClassOf( ) # Class: (Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis) AnnotationAssertion( "MIM:247800"^^xsd:string) AnnotationAssertion( "MESH:C565427"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007795"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Meralgia Paresthetica) AnnotationAssertion( "MESH:C537458"^^xsd:string) AnnotationAssertion( "RDO:0003302"^^xsd:string) AnnotationAssertion( "Bernhardt-Roth syndrome"^^xsd:string) AnnotationAssertion( "Lateral femoral cutaneous nerve entrapment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007797"^^xsd:string) AnnotationAssertion(rdfs:label "Meralgia Paresthetica"^^xsd:string) SubClassOf( ) # Class: (Preaxial Polydactyly II) AnnotationAssertion( "triphalangeal thumb"^^xsd:string) AnnotationAssertion( "MIM:174500"^^xsd:string) AnnotationAssertion( "POLYDACTYLY OF TRIPHALANGEAL THUMB"^^xsd:string) AnnotationAssertion( "PPD2"^^xsd:string) AnnotationAssertion( "TPT"^^xsd:string) AnnotationAssertion( "TPT-PS syndrome"^^xsd:string) AnnotationAssertion( "triphalangeal thumb with polydactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007798"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Polydactyly II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Crane-Heise Syndrome) AnnotationAssertion( "MIM:218090"^^xsd:string) AnnotationAssertion( "MESH:C536452"^^xsd:string) AnnotationAssertion( "Cleft lip-palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007800"^^xsd:string) AnnotationAssertion(rdfs:label "Crane-Heise Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diseases of the Aged) AnnotationAssertion( "The range of diseases that occur mostly in the elderly."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "aging-associated diseases"^^xsd:string) AnnotationAssertion( "diseases of the elderly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007801"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Diseases of the Aged"^^xsd:string) SubClassOf( ) # Class: (GLUT1 Deficiency Syndrome) AnnotationAssertion(Annotation( "MIM:606777"^^xsd:string) "The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a wide spectrum of neurologic phenotype variability, including cognitive impairment and movement problems."^^xsd:string) AnnotationAssertion( "MIM:606777"^^xsd:string) AnnotationAssertion( "EFO:0009139"^^xsd:string) AnnotationAssertion( "MESH:C536830"^^xsd:string) AnnotationAssertion( "NCI:C168599"^^xsd:string) AnnotationAssertion( "ORDO:71277"^^xsd:string) AnnotationAssertion( "De Vivo disease"^^xsd:string) AnnotationAssertion( "Encephalopathy Due To Glut1 Deficiency"^^xsd:string) AnnotationAssertion( "GLUT1 deficiency syndrome 1"^^xsd:string) AnnotationAssertion( "GLUT1DS"^^xsd:string) AnnotationAssertion( "GLUT1DS1"^^xsd:string) AnnotationAssertion( "Glucose Transporter Protein Syndrome"^^xsd:string) AnnotationAssertion( "Glucose Transporter Type 1 Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Glucose transport defect, blood-brain barrier"^^xsd:string) AnnotationAssertion( "Glucose transporter type1 (GLUT-1) deficiency"^^xsd:string) AnnotationAssertion( "PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER"^^xsd:string) AnnotationAssertion( "GLUT1 deficiency syndrome 1, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007802"^^xsd:string) AnnotationAssertion(rdfs:label "GLUT1 Deficiency Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Endocrine Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D004701"^^xsd:string) "Tumors or cancer of the ENDOCRINE GLANDS."^^xsd:string) AnnotationAssertion( "RDO:0004757"^^xsd:string) AnnotationAssertion( "EFO:0003769"^^xsd:string) AnnotationAssertion( "MESH:D004701"^^xsd:string) AnnotationAssertion( "Carcinoma of Endocrine Gland"^^xsd:string) AnnotationAssertion( "Endocrine Cancer"^^xsd:string) AnnotationAssertion( "Endocrine Cancers"^^xsd:string) AnnotationAssertion( "Endocrine Gland Carcinoma"^^xsd:string) AnnotationAssertion( "Endocrine Gland Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007803"^^xsd:string) AnnotationAssertion(rdfs:label "Endocrine Gland Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diastasis, Bone) AnnotationAssertion(Annotation( "MESH:D000070631"^^xsd:string) "Abnormal separation of bones, often from a LIGAMENT."^^xsd:string) AnnotationAssertion( "MESH:D000070631"^^xsd:string) AnnotationAssertion( "RDO:0016090"^^xsd:string) AnnotationAssertion( "Bone Diastases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007804"^^xsd:string) AnnotationAssertion(rdfs:label "Diastasis, Bone"^^xsd:string) SubClassOf( ) # Class: (Chromosome 1, Monosomy 1p22 p13) AnnotationAssertion( "MESH:C535592"^^xsd:string) AnnotationAssertion( "RDO:0000810"^^xsd:string) AnnotationAssertion( "Deletion 1p22 p13"^^xsd:string) AnnotationAssertion( "Monosomy 1p22 p13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007805"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Monosomy 1p22 p13"^^xsd:string) SubClassOf( ) # Class: (Drug Hypersensitivity Syndrome) AnnotationAssertion(Annotation( "MESH:D063926"^^xsd:string) "Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)."^^xsd:string) AnnotationAssertion( "EFO:1002004"^^xsd:string) AnnotationAssertion( "MESH:D063926"^^xsd:string) AnnotationAssertion( "RDO:0015829"^^xsd:string) AnnotationAssertion( "DRESS Syndrome"^^xsd:string) AnnotationAssertion( "DRESS Syndromes"^^xsd:string) AnnotationAssertion( "Drug Hypersensitivity Syndromes"^^xsd:string) AnnotationAssertion( "Drug Reaction with Eosinophilia and Systemic Symptoms"^^xsd:string) AnnotationAssertion( "Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007806"^^xsd:string) AnnotationAssertion(rdfs:label "Drug Hypersensitivity Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa with Diaphragmatic Hernia) AnnotationAssertion( "MIM:226735"^^xsd:string) AnnotationAssertion( "MESH:C565588"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007807"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa with Diaphragmatic Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intrathoracic Gastric Volvulus) AnnotationAssertion( "MIM:137210"^^xsd:string) AnnotationAssertion( "MESH:C564989"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007808"^^xsd:string) AnnotationAssertion(rdfs:label "Intrathoracic Gastric Volvulus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neoplasm Seeding) AnnotationAssertion(Annotation( "MESH:D009366"^^xsd:string) "The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation."^^xsd:string) AnnotationAssertion( "MESH:D009366"^^xsd:string) AnnotationAssertion( "RDO:0006195"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007809"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm Seeding"^^xsd:string) SubClassOf( ) # Class: (Familial Osteodysplasia, Anderson Type) AnnotationAssertion( "MIM:259250"^^xsd:string) AnnotationAssertion( "MESH:C564923"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007810"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Osteodysplasia, Anderson Type"^^xsd:string) SubClassOf( ) # Class: (Familial Cirrhosis with Deposition of Abnormal Glycogen) AnnotationAssertion( "RDO:0003086"^^xsd:string) AnnotationAssertion( "MESH:C537275"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007811"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cirrhosis with Deposition of Abnormal Glycogen"^^xsd:string) SubClassOf( ) # Class: (human herpesvirus 8 infection) AnnotationAssertion(Annotation( "NCI:C39291"^^xsd:string) "This is an infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-09T16:14:11Z"^^xsd:string) AnnotationAssertion( "EFO:0002612"^^xsd:string) AnnotationAssertion( "HHV-8 Infection"^^xsd:string) AnnotationAssertion( "HHV8 Infection"^^xsd:string) AnnotationAssertion( "Human Herpesvirus-8 Infection"^^xsd:string) AnnotationAssertion( "Kaposi Sarcoma-Associated Herpes Virus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007812"^^xsd:string) AnnotationAssertion(rdfs:label "human herpesvirus 8 infection"^^xsd:string) SubClassOf( ) # Class: (Platypnea Orthodeoxia Syndrome) AnnotationAssertion( "Orthostatic dyspnea and fall of oxygen blood saturation when standing up which regress by assuming lying position."^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-12T14:08:31Z"^^xsd:string) AnnotationAssertion( "MESH:D000092129"^^xsd:string) AnnotationAssertion( "Orthodeoxia"^^xsd:string) AnnotationAssertion( "Orthodeoxias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007813"^^xsd:string) AnnotationAssertion(rdfs:label "Platypnea Orthodeoxia Syndrome"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Myxoma) AnnotationAssertion( "MIM:255960"^^xsd:string) AnnotationAssertion( "MESH:C538262"^^xsd:string) AnnotationAssertion( "Intracardiac myxoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007814"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Myxoma"^^xsd:string) SubClassOf( ) # Class: (Major Affective Disorder 9) AnnotationAssertion( "MIM:612372"^^xsd:string) AnnotationAssertion( "RDO:0015589"^^xsd:string) AnnotationAssertion( "MESH:C567531"^^xsd:string) AnnotationAssertion( "MAFD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007815"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 9"^^xsd:string) SubClassOf( ) # Class: (Central Cloudy Dystrophy of Francois) AnnotationAssertion(Annotation( "ORPHA:98972"^^xsd:string) "A very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision."^^xsd:string) AnnotationAssertion( "MIM:217600"^^xsd:string) AnnotationAssertion( "MESH:C563262"^^xsd:string) AnnotationAssertion( "CCDF"^^xsd:string) AnnotationAssertion( "Corneal Dystrophy, Central Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007816"^^xsd:string) AnnotationAssertion(rdfs:label "Central Cloudy Dystrophy of Francois"^^xsd:string) SubClassOf( ) # Class: (Macroglossia) AnnotationAssertion(Annotation( "MESH:D008260"^^xsd:string) "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)"^^xsd:string) AnnotationAssertion( "MESH:D008260"^^xsd:string) AnnotationAssertion( "NCI:C84832"^^xsd:string) AnnotationAssertion( "Macroglossias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007817"^^xsd:string) AnnotationAssertion(rdfs:label "Macroglossia"^^xsd:string) SubClassOf( ) # Class: (Distal Renal Tubular Acidosis 4 with Hemolytic Anemia) AnnotationAssertion( "MIM:611590"^^xsd:string) AnnotationAssertion( "MESH:C566910"^^xsd:string) AnnotationAssertion( "DRTA4"^^xsd:string) AnnotationAssertion( "distal renal tubular acidosis with normal red cell morphology"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "distal RTA, autosomal recessive, with hemolytic anemia"^^xsd:string) AnnotationAssertion( "DOID:9007818"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Renal Tubular Acidosis 4 with Hemolytic Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Endocrine Bone Diseases) AnnotationAssertion(Annotation( "MESH:D001849"^^xsd:string) "Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands."^^xsd:string) AnnotationAssertion( "RDO:0004719"^^xsd:string) AnnotationAssertion( "MESH:D001849"^^xsd:string) AnnotationAssertion( "Endocrine Bone Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007819"^^xsd:string) AnnotationAssertion(rdfs:label "Endocrine Bone Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sudden Death) AnnotationAssertion(Annotation( "MESH:D003645"^^xsd:string) "The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions."^^xsd:string) AnnotationAssertion( "RDO:0001697"^^xsd:string) AnnotationAssertion( "MESH:D003645"^^xsd:string) AnnotationAssertion( "Sudden unexplained death"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007820"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Death"^^xsd:string) SubClassOf( ) # Class: (Glucagonoma) AnnotationAssertion(Annotation( "MESH:D005935"^^xsd:string) "An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA."^^xsd:string) AnnotationAssertion( "MESH:D005935"^^xsd:string) AnnotationAssertion( "RDO:0002524"^^xsd:string) AnnotationAssertion( "Glucagonoma Syndrome"^^xsd:string) AnnotationAssertion( "Glucagonoma Syndromes"^^xsd:string) AnnotationAssertion( "Glucagonomas"^^xsd:string) AnnotationAssertion( "alpha Cell Tumor"^^xsd:string) AnnotationAssertion( "alpha-Cell Adenoma"^^xsd:string) AnnotationAssertion( "alpha-Cell Adenomas"^^xsd:string) AnnotationAssertion( "alpha-Cell Tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007821"^^xsd:string) AnnotationAssertion(rdfs:label "Glucagonoma"^^xsd:string) SubClassOf( ) # Class: (primary pulmonary hypertension 5) AnnotationAssertion( "MESH:C564862"^^xsd:string) AnnotationAssertion( "MIM:265400"^^xsd:string) AnnotationAssertion( "PPH5"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension 5, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007822"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 5"^^xsd:string) SubClassOf( ) # Class: (Chromosome Xq26.3 Duplication Syndrome) AnnotationAssertion( "A syndrome due to microduplications of chromosome Xq26.3, characterized by excessive growth, usually beginning during the first year of life in previously normal infants. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:300942"^^xsd:string) AnnotationAssertion( "X-linked acrogigantism"^^xsd:string) AnnotationAssertion( "XLAG"^^xsd:string) AnnotationAssertion( "chromosome Xq26 microduplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007823"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Xq26.3 Duplication Syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis) AnnotationAssertion( "MESH:C565412"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007826"^^xsd:string) AnnotationAssertion(rdfs:label "Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Upper Airway Obstruction) AnnotationAssertion( "A blockage of the upper airway, which can be in the trachea, voice box (laryngeal), or throat (pharyngeal) areas."^^xsd:string) AnnotationAssertion( "RDO:9000089"^^xsd:string) AnnotationAssertion( "upper respiratory tract obstruction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007827"^^xsd:string) AnnotationAssertion(rdfs:label "Upper Airway Obstruction"^^xsd:string) SubClassOf( ) # Class: (Abnormalities, Drug-Induced) AnnotationAssertion(Annotation( "MESH:D000014"^^xsd:string) "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment."^^xsd:string) AnnotationAssertion( "MESH:D000014"^^xsd:string) AnnotationAssertion( "RDO:0000716"^^xsd:string) AnnotationAssertion( "Drug-Induced Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007828"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormalities, Drug-Induced"^^xsd:string) SubClassOf( ) # Class: (Mononegavirales Infections) AnnotationAssertion(Annotation( "MESH:D018701"^^xsd:string) "Infections with viruses of the order MONONEGAVIRALES. The concept includes FILOVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; and RHABDOVIRIDAE INFECTIONS."^^xsd:string) AnnotationAssertion( "EFO:0007376"^^xsd:string) AnnotationAssertion( "MESH:D018701"^^xsd:string) AnnotationAssertion( "Mononegavirales Infection"^^xsd:string) AnnotationAssertion( "Mononegavirales infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007829"^^xsd:string) AnnotationAssertion(rdfs:label "Mononegavirales Infections"^^xsd:string) SubClassOf( ) # Class: (Fitzsimmons-Guilbert Syndrome) AnnotationAssertion( "MESH:C537938"^^xsd:string) AnnotationAssertion( "Fitzsimmons syndrome"^^xsd:string) AnnotationAssertion( "Spastic paraplegia associated with brachydactyly type E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007830"^^xsd:string) AnnotationAssertion(rdfs:label "Fitzsimmons-Guilbert Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Santos Syndrome) AnnotationAssertion( "MIM:613005"^^xsd:string) AnnotationAssertion( "MESH:C567819"^^xsd:string) AnnotationAssertion( "Fibular Agenesis-Hypoplasia, Oligodactylous Clubfeet, and Anonychia-Nail Hypoplasia Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007832"^^xsd:string) AnnotationAssertion(rdfs:label "Santos Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hay Wells Syndrome Recessive Type) AnnotationAssertion( "MESH:C535846"^^xsd:string) AnnotationAssertion( "RDO:0001181"^^xsd:string) AnnotationAssertion( "Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007833"^^xsd:string) AnnotationAssertion(rdfs:label "Hay Wells Syndrome Recessive Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperthyroxinemia due to Decreased Peripheral Conversion of T4) AnnotationAssertion( "MIM:147892"^^xsd:string) AnnotationAssertion( "MESH:C564122"^^xsd:string) AnnotationAssertion( "RDO:0013187"^^xsd:string) AnnotationAssertion( "5-Prime-Deiodinase Deficiency, Generalized, Causing Euthyroid Hyperthyroxinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007834"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperthyroxinemia due to Decreased Peripheral Conversion of T4"^^xsd:string) SubClassOf( ) # Class: (Sickle Cell Retinopathy) AnnotationAssertion( "This represents the effects of arteriolar and capillary occlusions in the retina as a result of sickle cell anemia."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Proliferative retinopathy due to sickle cell disease"^^xsd:string) AnnotationAssertion( "DOID:9007835"^^xsd:string) AnnotationAssertion(rdfs:label "Sickle Cell Retinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reticuloendotheliosis, Avian) AnnotationAssertion(Annotation( "MESH:D055761"^^xsd:string) "A group of pathologic syndromes found in avian species caused by RETICULOENDOTHELIOSIS VIRUS. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant."^^xsd:string) AnnotationAssertion( "MESH:D055761"^^xsd:string) AnnotationAssertion( "RDO:0007722"^^xsd:string) AnnotationAssertion( "Avian Reticuloendothelioses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007836"^^xsd:string) AnnotationAssertion(rdfs:label "Reticuloendotheliosis, Avian"^^xsd:string) SubClassOf( ) # Class: (PARC Syndrome) AnnotationAssertion( "MIM:600331"^^xsd:string) AnnotationAssertion( "MESH:C537174"^^xsd:string) AnnotationAssertion( "Poikiloderma, Alopecia, Retrognathism, and Cleft palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007837"^^xsd:string) AnnotationAssertion(rdfs:label "PARC Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myocardial Reperfusion Injury) AnnotationAssertion(Annotation( "MESH:D015428"^^xsd:string) "Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm."^^xsd:string) AnnotationAssertion( "MESH:D015428"^^xsd:string) AnnotationAssertion( "Myocardial Ischemic Reperfusion Injury"^^xsd:string) AnnotationAssertion( "Myocardial Reperfusion Injuries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007838"^^xsd:string) AnnotationAssertion(rdfs:label "Myocardial Reperfusion Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Selective Tooth Agenesis 3) AnnotationAssertion( "MIM:604625"^^xsd:string) AnnotationAssertion( "RDO:0015221"^^xsd:string) AnnotationAssertion( "MESH:C567036"^^xsd:string) AnnotationAssertion( "Hypodontia-Oligodontia 3"^^xsd:string) AnnotationAssertion( "STHAG3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007839"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 3"^^xsd:string) SubClassOf( ) # Class: (Chylothorax) AnnotationAssertion(Annotation( "MESH:D002916"^^xsd:string) "The presence of chyle in the thoracic cavity. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001780"^^xsd:string) AnnotationAssertion( "MESH:D002916"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007840"^^xsd:string) AnnotationAssertion(rdfs:label "Chylothorax"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sepsis-Associated Encephalopathy) AnnotationAssertion(Annotation( "MESH:D065166"^^xsd:string) "Acute neurological dysfunction during severe SEPSIS in the absence of direct brain infection characterized by systemic inflammation and BLOOD BRAIN BARRIER perturbation."^^xsd:string) AnnotationAssertion( "MESH:D065166"^^xsd:string) AnnotationAssertion( "Sepsis Associated Delirium"^^xsd:string) AnnotationAssertion( "Sepsis Associated Deliriums"^^xsd:string) AnnotationAssertion( "Sepsis Associated Encephalopathies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007842"^^xsd:string) AnnotationAssertion(rdfs:label "Sepsis-Associated Encephalopathy"^^xsd:string) SubClassOf( ) # Class: (Familial Streblodactyly) AnnotationAssertion( "MESH:C536852"^^xsd:string) AnnotationAssertion( "RDO:0002563"^^xsd:string) AnnotationAssertion( "Crooked little finger, familial"^^xsd:string) AnnotationAssertion( "Minor streblomicrodactyly, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007843"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Streblodactyly"^^xsd:string) SubClassOf( ) # Class: (Branchiootic Syndrome 3) AnnotationAssertion( "MIM:608389"^^xsd:string) AnnotationAssertion( "MESH:C564248"^^xsd:string) AnnotationAssertion( "BO Syndrome 3"^^xsd:string) AnnotationAssertion( "BOS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007844"^^xsd:string) AnnotationAssertion(rdfs:label "Branchiootic Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Encopresis) AnnotationAssertion(Annotation( "MESH:D004688"^^xsd:string) "Incontinence of feces not due to organic defect or illness."^^xsd:string) AnnotationAssertion( "MESH:D004688"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007845"^^xsd:string) AnnotationAssertion(rdfs:label "Encopresis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Diarrhea) AnnotationAssertion(Annotation( "MESH:D003968"^^xsd:string) "DIARRHEA occurring in infants from newborn to 24-months old."^^xsd:string) AnnotationAssertion( "EFO:1001306"^^xsd:string) AnnotationAssertion( "MESH:D003968"^^xsd:string) AnnotationAssertion( "MONDO:0043555"^^xsd:string) AnnotationAssertion( "infantile diarrheas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007847"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Diarrhea"^^xsd:string) SubClassOf( ) # Class: (Sarcoplasmic Body Myopathy) AnnotationAssertion(Annotation( "MIM:620286"^^xsd:string) "An autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Caused by heterozygous mutation in the MB gene on chromosome 22q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-29T09:41:57Z"^^xsd:string) AnnotationAssertion( "MIM:620286"^^xsd:string) AnnotationAssertion( "MYOSB"^^xsd:string) AnnotationAssertion( "myoglobinopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007848"^^xsd:string) AnnotationAssertion(rdfs:label "Sarcoplasmic Body Myopathy"^^xsd:string) SubClassOf( ) # Class: (Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet) AnnotationAssertion( "MIM:275595"^^xsd:string) AnnotationAssertion( "MESH:C564759"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007849"^^xsd:string) AnnotationAssertion(rdfs:label "Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Verloove-Vanhorick Brubakk Syndrome) AnnotationAssertion( "MIM:215850"^^xsd:string) AnnotationAssertion( "MESH:C536541"^^xsd:string) AnnotationAssertion( "CLH Syndrome"^^xsd:string) AnnotationAssertion( "Cleft Limb Heart Malformation Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007850"^^xsd:string) AnnotationAssertion(rdfs:label "Verloove-Vanhorick Brubakk Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Developmental Dysphasia) AnnotationAssertion( "MIM:600117"^^xsd:string) AnnotationAssertion( "MESH:C563997"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007851"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Developmental Dysphasia"^^xsd:string) SubClassOf( ) # Class: (Generalized Epilepsy with Febrile Seizures Plus, Type 12) AnnotationAssertion(Annotation( "MIM:620755"^^xsd:string) "A disease characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Caused by heterozygous mutation in the SLC32A1 gene on chromosome 20q11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T12:43:57Z"^^xsd:string) AnnotationAssertion( "MIM:620755"^^xsd:string) AnnotationAssertion( "GEFS+, type 12"^^xsd:string) AnnotationAssertion( "GEFS+12"^^xsd:string) AnnotationAssertion( "GEFSP12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007852"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Epilepsy with Febrile Seizures Plus, Type 12"^^xsd:string) SubClassOf( ) # Class: (Worster-Drought Syndrome) AnnotationAssertion( "MIM:185480"^^xsd:string) AnnotationAssertion( "MESH:C536747"^^xsd:string) AnnotationAssertion( "Congenital suprabulbar paresis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007853"^^xsd:string) AnnotationAssertion(rdfs:label "Worster-Drought Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fibrous Dysplasia, Monostotic) AnnotationAssertion(Annotation( "MESH:D005358"^^xsd:string) "FIBROUS DYSPLASIA OF BONE involving only one bone."^^xsd:string) AnnotationAssertion( "MESH:D005358"^^xsd:string) AnnotationAssertion( "RDO:0005605"^^xsd:string) AnnotationAssertion( "Monostotic Fibrous Dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007854"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrous Dysplasia, Monostotic"^^xsd:string) SubClassOf( ) # Class: (Oslam syndrome) AnnotationAssertion( "MIM:165660"^^xsd:string) AnnotationAssertion( "MESH:C537138"^^xsd:string) AnnotationAssertion( "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow"^^xsd:string) AnnotationAssertion( "osteosarcoma, limb anomalies, and macrocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007855"^^xsd:string) AnnotationAssertion(rdfs:label "Oslam syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities) AnnotationAssertion( "MIM:602471"^^xsd:string) AnnotationAssertion( "MESH:C566544"^^xsd:string) AnnotationAssertion( "RDO:0014872"^^xsd:string) AnnotationAssertion( "Sams"^^xsd:string) AnnotationAssertion( "Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007856"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Maleylacetoacetate Isomerase Deficiency) AnnotationAssertion( "A disease characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617596"^^xsd:string) AnnotationAssertion( "BENIGN HYPERSUCCINYLACETONEMIA"^^xsd:string) AnnotationAssertion( "BHSA"^^xsd:string) AnnotationAssertion( "MAAI DEFICIENCY"^^xsd:string) AnnotationAssertion( "MAAID"^^xsd:string) AnnotationAssertion( "MHSA"^^xsd:string) AnnotationAssertion( "MILD HYPERSUCCINYLACETONEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007857"^^xsd:string) AnnotationAssertion(rdfs:label "Maleylacetoacetate Isomerase Deficiency"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE) AnnotationAssertion(Annotation( "MIM:301039"^^xsd:string) "An X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-07-21T13:45:56Z"^^xsd:string) AnnotationAssertion( "MIM:301039"^^xsd:string) AnnotationAssertion( "Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2"^^xsd:string) AnnotationAssertion( "MRXSHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007858"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mastocytic Enterocolitis) AnnotationAssertion( "GARD:10176"^^xsd:string) AnnotationAssertion( "MESH:C536032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007859"^^xsd:string) AnnotationAssertion(rdfs:label "Mastocytic Enterocolitis"^^xsd:string) SubClassOf( ) # Class: (Spindle Cell Nevus) AnnotationAssertion(Annotation( "MESH:D018331"^^xsd:string) "A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)"^^xsd:string) AnnotationAssertion( "EFO:1001105"^^xsd:string) AnnotationAssertion( "MESH:D018331"^^xsd:string) AnnotationAssertion( "Spindle Cell Nevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007860"^^xsd:string) AnnotationAssertion(rdfs:label "Spindle Cell Nevus"^^xsd:string) SubClassOf( ) # Class: (Dental Deposits) AnnotationAssertion(Annotation( "MESH:D003741"^^xsd:string) "Accumulations of microflora that lead to pathological plaque and calculus which cause PERIODONTAL DISEASES. It can be considered a type of BIOFILMS. It is subtly distinguished from the protective DENTAL PELLICLE."^^xsd:string) AnnotationAssertion( "MESH:D003741"^^xsd:string) AnnotationAssertion( "Dental Deposit"^^xsd:string) AnnotationAssertion( "Materia Alba"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007861"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Deposits"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 90) AnnotationAssertion(Annotation( "MIM:620744"^^xsd:string) "A male infertility due to asthenozoospermia, in which progressive motility of sperm is markedly reduced. Caused by homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T12:08:36Z"^^xsd:string) AnnotationAssertion( "MIM:620744"^^xsd:string) AnnotationAssertion( "SPGF90"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007862"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 90"^^xsd:string) SubClassOf( ) # Class: (Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery) AnnotationAssertion( "MIM:606894"^^xsd:string) AnnotationAssertion( "MESH:C535722"^^xsd:string) AnnotationAssertion( "Duodenojejunal Atresia, Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007863"^^xsd:string) AnnotationAssertion(rdfs:label "Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ophthalmoplegia, Painful) AnnotationAssertion( "MESH:C531833"^^xsd:string) AnnotationAssertion( "RDO:0000225"^^xsd:string) AnnotationAssertion( "Nonspecific inflammation of the cavernous sinus or superior orbital fissure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007864"^^xsd:string) AnnotationAssertion(rdfs:label "Ophthalmoplegia, Painful"^^xsd:string) SubClassOf( ) # Class: (Recurrent Trigger Thumb) AnnotationAssertion( "RDO:0004578"^^xsd:string) AnnotationAssertion( "MESH:C538662"^^xsd:string) AnnotationAssertion( "Bilateral trigger thumb"^^xsd:string) AnnotationAssertion( "Congenital trigger thumb"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007865"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Trigger Thumb"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Aicardi-Goutieres Syndrome 5) AnnotationAssertion( "MIM:612952"^^xsd:string) AnnotationAssertion( "SAMHD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C535608"^^xsd:string) AnnotationAssertion( "NCI:C168564"^^xsd:string) AnnotationAssertion( "AGS5"^^xsd:string) AnnotationAssertion( "Aicardi-Goutieres syndrome, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007867"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 5"^^xsd:string) SubClassOf( ) # Class: (Multiple mitochondrial dysfunctions syndrome 7) AnnotationAssertion(Annotation( "MIM:620423"^^xsd:string) "An autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems. Caused by homozygous or compound heterozygous mutation in the glycine cleavage system H protein gene (GCSH) on chromosome 16q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-07T12:18:29Z"^^xsd:string) AnnotationAssertion( "MIM:620423"^^xsd:string) AnnotationAssertion( "MMDS7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007868"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple mitochondrial dysfunctions syndrome 7"^^xsd:string) SubClassOf( ) # Class: (Boylan Dew Greco Syndrome) AnnotationAssertion( "MESH:C537083"^^xsd:string) AnnotationAssertion( "Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007869"^^xsd:string) AnnotationAssertion(rdfs:label "Boylan Dew Greco Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiratory System Abnormalities) AnnotationAssertion(Annotation( "MESH:D015619"^^xsd:string) "Congenital structural abnormalities of the respiratory system."^^xsd:string) AnnotationAssertion( "MESH:D015619"^^xsd:string) AnnotationAssertion( "RDO:0003779"^^xsd:string) AnnotationAssertion( "Respiratory System Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007870"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory System Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Malignant Pleural Effusions) AnnotationAssertion(Annotation( "MESH:D016066"^^xsd:string) "Presence of fluid in the PLEURAL CAVITY as a complication of malignant disease. Malignant pleural effusions often contain actual malignant cells."^^xsd:string) AnnotationAssertion( "RDO:0006938"^^xsd:string) AnnotationAssertion( "MESH:D016066"^^xsd:string) AnnotationAssertion( "malignant pleural effusion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007871"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Pleural Effusions"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Reactive Attachment Disorder) AnnotationAssertion(Annotation( "MESH:D019962"^^xsd:string) "Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V)"^^xsd:string) AnnotationAssertion( "MESH:D019962"^^xsd:string) AnnotationAssertion( "RDO:0007301"^^xsd:string) AnnotationAssertion( "Reactive Attachment Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007872"^^xsd:string) AnnotationAssertion(rdfs:label "Reactive Attachment Disorder"^^xsd:string) SubClassOf( ) # Class: (Primary Intraosseous Vascular Malformation) AnnotationAssertion( "MIM:606893"^^xsd:string) AnnotationAssertion( "MESH:C564648"^^xsd:string) AnnotationAssertion( "VMOS"^^xsd:string) AnnotationAssertion( "VMPI"^^xsd:string) AnnotationAssertion( "Vascular Malformation Osseous"^^xsd:string) AnnotationAssertion( "intraosseous hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007873"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Intraosseous Vascular Malformation"^^xsd:string) SubClassOf( ) # Class: (Liver Failure) AnnotationAssertion(Annotation( "MESH:D017093"^^xsd:string) "Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)"^^xsd:string) AnnotationAssertion( "MESH:D017093"^^xsd:string) AnnotationAssertion( "Hepatic Failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007874"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Failure"^^xsd:string) SubClassOf( ) # Class: (Kabuki Syndrome 2) AnnotationAssertion( "MIM:300867"^^xsd:string) AnnotationAssertion( "KABUK2"^^xsd:string) AnnotationAssertion( "KABUKI SYNDROME - KDM6A"^^xsd:string) AnnotationAssertion( "KDM6A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007875"^^xsd:string) AnnotationAssertion(rdfs:label "Kabuki Syndrome 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Fetal Hypoxia) AnnotationAssertion(Annotation( "MESH:D005311"^^xsd:string) "Deficient oxygenation of FETAL BLOOD."^^xsd:string) AnnotationAssertion( "EFO:1001793"^^xsd:string) AnnotationAssertion( "MESH:D005311"^^xsd:string) AnnotationAssertion( "Fetal Anoxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007877"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Hypoxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Crossed Polydactyly, Type I) AnnotationAssertion( "MESH:C566783"^^xsd:string) AnnotationAssertion( "RDO:0015035"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007878"^^xsd:string) AnnotationAssertion(rdfs:label "Crossed Polydactyly, Type I"^^xsd:string) SubClassOf( ) # Class: (Thrombocythemia 2) AnnotationAssertion( "MIM:601977"^^xsd:string) AnnotationAssertion( "THCYT2"^^xsd:string) AnnotationAssertion( "THROMBOCYTHEMIA 2, SOMATIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007879"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocythemia 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hemoperitoneum) AnnotationAssertion(Annotation( "MESH:D006465"^^xsd:string) "Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE."^^xsd:string) AnnotationAssertion( "MESH:D006465"^^xsd:string) AnnotationAssertion( "Hemoperitoneums"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007881"^^xsd:string) AnnotationAssertion(rdfs:label "Hemoperitoneum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Benign Neonatal Epilepsy, Autosomal Recessive) AnnotationAssertion( "MIM:269720"^^xsd:string) AnnotationAssertion( "RDO:0013654"^^xsd:string) AnnotationAssertion( "MESH:C564823"^^xsd:string) AnnotationAssertion( "benign familial neonatal convulsions, autosomal recessive"^^xsd:string) AnnotationAssertion( "benign familial neonatal seizures, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007882"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Neonatal Epilepsy, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Depressive Disorder, Treatment-Resistant) AnnotationAssertion(Annotation( "MESH:D061218"^^xsd:string) "Failure to respond to two or more trials of antidepressant monotherapy or failure to respond to four or more trials of different antidepressant therapies. (Campbell's Psychiatric Dictionary, 9th ed.)"^^xsd:string) AnnotationAssertion( "EFO:0009854"^^xsd:string) AnnotationAssertion( "MESH:D061218"^^xsd:string) AnnotationAssertion( "RDO:0010055"^^xsd:string) AnnotationAssertion( "Refractory Depression"^^xsd:string) AnnotationAssertion( "Refractory Depressions"^^xsd:string) AnnotationAssertion( "Therapy Resistant Depression"^^xsd:string) AnnotationAssertion( "Therapy-Resistant Depressions"^^xsd:string) AnnotationAssertion( "Treatment Resistant Depression"^^xsd:string) AnnotationAssertion( "Treatment Resistant Depressions"^^xsd:string) AnnotationAssertion( "Treatment-Resistant Depressive Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007883"^^xsd:string) AnnotationAssertion(rdfs:label "Depressive Disorder, Treatment-Resistant"^^xsd:string) SubClassOf( ) # Class: (Lactic Acidosis, Chronic Adult Form) AnnotationAssertion( "MIM:150170"^^xsd:string) AnnotationAssertion( "MESH:C563640"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007884"^^xsd:string) AnnotationAssertion(rdfs:label "Lactic Acidosis, Chronic Adult Form"^^xsd:string) SubClassOf( ) # Class: (Pachyonychia Congenita 4) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:18:57Z"^^xsd:string) AnnotationAssertion( "MIM:615728"^^xsd:string) AnnotationAssertion( "PC4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007885"^^xsd:string) AnnotationAssertion(rdfs:label "Pachyonychia Congenita 4"^^xsd:string) SubClassOf( ) # Class: (Chromosome 20, Trisomy) AnnotationAssertion( "MESH:C535372"^^xsd:string) AnnotationAssertion( "NCI:C36397"^^xsd:string) AnnotationAssertion( "RDO:0000454"^^xsd:string) AnnotationAssertion( "Chromosome 20 duplication"^^xsd:string) AnnotationAssertion( "Trisomy 20"^^xsd:string) AnnotationAssertion( "Trisomy 20 mosaicism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007886"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 20, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Non-Lissencephalic Cortical Dysplasia) AnnotationAssertion( "MESH:C536243"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007887"^^xsd:string) AnnotationAssertion(rdfs:label "Non-Lissencephalic Cortical Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (primary pulmonary hypertension 3) AnnotationAssertion( "MIM:615343"^^xsd:string) AnnotationAssertion( "PPH3"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007888"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 3"^^xsd:string) SubClassOf( ) # Class: (Nephrogenic Fibrosing Dermopathy) AnnotationAssertion(Annotation( "MESH:D054989"^^xsd:string) "A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents."^^xsd:string) AnnotationAssertion( "EFO:1001814"^^xsd:string) AnnotationAssertion( "MESH:D054989"^^xsd:string) AnnotationAssertion( "Nephrogenic Fibrosing Dermopathies"^^xsd:string) AnnotationAssertion( "Nephrogenic Systemic Fibroses"^^xsd:string) AnnotationAssertion( "Nephrogenic Systemic Fibrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007889"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrogenic Fibrosing Dermopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Ichthyosis without Steroid Sulfatase Deficiency) AnnotationAssertion( "MIM:300001"^^xsd:string) AnnotationAssertion( "MESH:C564729"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007890"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Ichthyosis without Steroid Sulfatase Deficiency"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tics) AnnotationAssertion(Annotation( "MESH:D020323"^^xsd:string) "Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)"^^xsd:string) AnnotationAssertion( "MESH:D020323"^^xsd:string) AnnotationAssertion( "Gestural Tic"^^xsd:string) AnnotationAssertion( "Gestural Tics"^^xsd:string) AnnotationAssertion( "Habit Chorea"^^xsd:string) AnnotationAssertion( "Habit Choreas"^^xsd:string) AnnotationAssertion( "Habit Spasm"^^xsd:string) AnnotationAssertion( "Habit Spasms"^^xsd:string) AnnotationAssertion( "Habituation Spasm"^^xsd:string) AnnotationAssertion( "Habituation Spasms"^^xsd:string) AnnotationAssertion( "Motor Tic"^^xsd:string) AnnotationAssertion( "Motor Tics"^^xsd:string) AnnotationAssertion( "Tic"^^xsd:string) AnnotationAssertion( "Transient Tic"^^xsd:string) AnnotationAssertion( "Transient Tics"^^xsd:string) AnnotationAssertion( "Vocal Tic"^^xsd:string) AnnotationAssertion( "Vocal Tics"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007892"^^xsd:string) AnnotationAssertion(rdfs:label "Tics"^^xsd:string) SubClassOf( ) # Class: (Glycosylphosphatidylinositol Biosynthesis Defect 21) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-18T08:50:45Z"^^xsd:string) AnnotationAssertion( "EFO:0010564"^^xsd:string) AnnotationAssertion( "MIM:618590"^^xsd:string) AnnotationAssertion( "GPIBD21"^^xsd:string) AnnotationAssertion( "NEDBSS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007893"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Biosynthesis Defect 21"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 122) AnnotationAssertion(Annotation( "MIM:620714"^^xsd:string) "A disease characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade caused by compound heterozygous mutation in the TMTC4 gene on chromosome 13q32."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-19T14:41:13Z"^^xsd:string) AnnotationAssertion( "MIM:620714"^^xsd:string) AnnotationAssertion( "DEAFNESS, AUTOSOMAL RECESSIVE 122"^^xsd:string) AnnotationAssertion( "DFNB122"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007894"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 122"^^xsd:string) SubClassOf( ) # Class: (Arnold Stickler Bourne Syndrome) AnnotationAssertion( "MESH:C537431"^^xsd:string) AnnotationAssertion( "Corneal crystals myopathy and nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007895"^^xsd:string) AnnotationAssertion(rdfs:label "Arnold Stickler Bourne Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sclerosis) AnnotationAssertion(Annotation( "MESH:D012598"^^xsd:string) "A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve."^^xsd:string) AnnotationAssertion( "MESH:D012598"^^xsd:string) AnnotationAssertion( "Scleroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007896"^^xsd:string) AnnotationAssertion(rdfs:label "Sclerosis"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY) AnnotationAssertion(Annotation( "MIM:619076"^^xsd:string) "An autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-01-18T14:44:27Z"^^xsd:string) AnnotationAssertion( "MIM:619076"^^xsd:string) AnnotationAssertion( "NEDMISB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007897"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (FG Syndrome 1) AnnotationAssertion(Annotation( "MIM:305450"^^xsd:string) "This disease is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Affected individuals tend to be hyperactive and talkative."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-17T13:22:58Z"^^xsd:string) AnnotationAssertion( "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "MIM:305450"^^xsd:string) AnnotationAssertion( "FGS1"^^xsd:string) AnnotationAssertion( "KELLER SYNDROME"^^xsd:string) AnnotationAssertion( "MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM"^^xsd:string) AnnotationAssertion( "OKS"^^xsd:string) AnnotationAssertion( "OPITZ-KAVEGGIA SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007898"^^xsd:string) AnnotationAssertion(rdfs:label "FG Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Animal Viral Hepatitis) AnnotationAssertion(Annotation( "MESH:D006524"^^xsd:string) "INFLAMMATION of the LIVER in animals due to viral infection."^^xsd:string) AnnotationAssertion( "EFO:0007540"^^xsd:string) AnnotationAssertion( "MESH:D006524"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007899"^^xsd:string) AnnotationAssertion(rdfs:label "Animal Viral Hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Multisystemic Smooth Muscle Dysfunction Syndrome) AnnotationAssertion( "MIM:613834"^^xsd:string) AnnotationAssertion( "MSMDS"^^xsd:string) AnnotationAssertion( "SMDYS"^^xsd:string) AnnotationAssertion( "congenital mydriasis with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy"^^xsd:string) AnnotationAssertion( "smooth muscle dysfunction syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007900"^^xsd:string) AnnotationAssertion(rdfs:label "Multisystemic Smooth Muscle Dysfunction Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Grover's Disease) AnnotationAssertion( "MESH:C537306"^^xsd:string) AnnotationAssertion( "RDO:0003125"^^xsd:string) AnnotationAssertion( "Grover disease"^^xsd:string) AnnotationAssertion( "Transient Acantholytic Dermatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007901"^^xsd:string) AnnotationAssertion(rdfs:label "Grover's Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Encephalopathy, with or without Lipodystrophy) AnnotationAssertion( "Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade."^^xsd:string) AnnotationAssertion( "MIM:615924"^^xsd:string) AnnotationAssertion( "RDO:9000327"^^xsd:string) AnnotationAssertion( "PELD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007902"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Encephalopathy, with or without Lipodystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous) AnnotationAssertion( "MIM:245660"^^xsd:string) AnnotationAssertion( "MESH:C537032"^^xsd:string) AnnotationAssertion( "JEB2C"^^xsd:string) AnnotationAssertion( "LOCS"^^xsd:string) AnnotationAssertion( "Laryngeal and ocular granulation in indian children"^^xsd:string) AnnotationAssertion( "Laryngoonychocutaneous Syndrome"^^xsd:string) AnnotationAssertion( "Logic syndrome"^^xsd:string) AnnotationAssertion( "laryngo-onycho-cutaneous syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007903"^^xsd:string) AnnotationAssertion(rdfs:label "Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Desmoplastic Ameloblastoma) AnnotationAssertion(Annotation( "NCI:C39758"^^xsd:string) "This is an ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-06T17:59:31Z"^^xsd:string) AnnotationAssertion( "EFO:1000215"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007904"^^xsd:string) AnnotationAssertion(rdfs:label "Desmoplastic Ameloblastoma"^^xsd:string) SubClassOf( ) # Class: (Trifascicular Block) AnnotationAssertion( "Abnormal conduction in all three divisions of the intraventricular conducting tissue."^^xsd:string) AnnotationAssertion( "RDO:9000518"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Trifascicular block on electrocardiogram"^^xsd:string) AnnotationAssertion( "DOID:9007905"^^xsd:string) AnnotationAssertion(rdfs:label "Trifascicular Block"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Myopathy with Neuropathy and Deafness) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001749"^^xsd:string) AnnotationAssertion( "MIM:617519"^^xsd:string) AnnotationAssertion( "CMND"^^xsd:string) AnnotationAssertion( "congenital myopathy, neuropathy, and deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007907"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myopathy with Neuropathy and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aortic Coarctation) AnnotationAssertion(Annotation( "MESH:D001017"^^xsd:string) "A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion."^^xsd:string) AnnotationAssertion( "MIM:120000"^^xsd:string) AnnotationAssertion( "EFO:1001267"^^xsd:string) AnnotationAssertion( "MESH:D001017"^^xsd:string) AnnotationAssertion( "Aorta Coarctation"^^xsd:string) AnnotationAssertion( "Aorta Coarctations"^^xsd:string) AnnotationAssertion( "Aorta Dominant Coarctation"^^xsd:string) AnnotationAssertion( "Aorta Dominant Coarctations"^^xsd:string) AnnotationAssertion( "Aortic Coarctations"^^xsd:string) AnnotationAssertion( "Coarctation of Aorta"^^xsd:string) AnnotationAssertion( "Coarctation of Aorta Dominant"^^xsd:string) AnnotationAssertion( "Coarctation of the Aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MIDAORTIC SYNDROME"^^xsd:string) AnnotationAssertion( "DOID:9007908"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Coarctation"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620746"^^xsd:string) "This disease is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-28T11:59:43Z"^^xsd:string) AnnotationAssertion( "MIM:620746"^^xsd:string) AnnotationAssertion( "NEDHBA"^^xsd:string) AnnotationAssertion( "SLC4A10-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007909"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autoinflammation with Arthritis and Dyskeratosis) AnnotationAssertion( "A disease characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617388"^^xsd:string) AnnotationAssertion( "AIADK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007910"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation with Arthritis and Dyskeratosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myoglobinuria, Autosomal Dominant) AnnotationAssertion( "MIM:160010"^^xsd:string) AnnotationAssertion( "MESH:C563546"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007911"^^xsd:string) AnnotationAssertion(rdfs:label "Myoglobinuria, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Familial Granulomatous Arteritis with Juvenile Polyarthritis) AnnotationAssertion( "MIM:108050"^^xsd:string) AnnotationAssertion( "MESH:C566253"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007912"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Granulomatous Arteritis with Juvenile Polyarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Collagen VI-related Myopathy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-25T14:18:01Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007913"^^xsd:string) AnnotationAssertion(rdfs:label "Collagen VI-related Myopathy"^^xsd:string) SubClassOf( ) # Class: (Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia) AnnotationAssertion( "MIM:603740"^^xsd:string) AnnotationAssertion( "MESH:C538181"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007914"^^xsd:string) AnnotationAssertion(rdfs:label "Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia"^^xsd:string) SubClassOf( ) # Class: (Fournier Gangrene) AnnotationAssertion(Annotation( "MESH:D018934"^^xsd:string) "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease."^^xsd:string) AnnotationAssertion( "MESH:D018934"^^xsd:string) AnnotationAssertion( "RDO:0007247"^^xsd:string) AnnotationAssertion( "Fournier Disease"^^xsd:string) AnnotationAssertion( "Fournier's Disease"^^xsd:string) AnnotationAssertion( "Fournier's Gangrene"^^xsd:string) AnnotationAssertion( "Fourniers Disease"^^xsd:string) AnnotationAssertion( "Fourniers Gangrene"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007915"^^xsd:string) AnnotationAssertion(rdfs:label "Fournier Gangrene"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Age Related Macular Degeneration 3) AnnotationAssertion( "MIM:608895"^^xsd:string) AnnotationAssertion( "MESH:C563838"^^xsd:string) AnnotationAssertion( "ARMD3"^^xsd:string) AnnotationAssertion( "HNARMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "hereditary neuropathy with or without age-related macular degeneration"^^xsd:string) AnnotationAssertion( "DOID:9007916"^^xsd:string) AnnotationAssertion(rdfs:label "Age Related Macular Degeneration 3"^^xsd:string) SubClassOf( ) # Class: (Supernumerary Tooth) AnnotationAssertion(Annotation( "MESH:D014096"^^xsd:string) "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption."^^xsd:string) AnnotationAssertion( "MESH:D014096"^^xsd:string) AnnotationAssertion( "MIM:187100"^^xsd:string) AnnotationAssertion( "MONDO:0008533"^^xsd:string) AnnotationAssertion( "Fourth Molar"^^xsd:string) AnnotationAssertion( "Fourth Molars"^^xsd:string) AnnotationAssertion( "Supernumerary Teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007917"^^xsd:string) AnnotationAssertion(rdfs:label "Supernumerary Tooth"^^xsd:string) SubClassOf( ) # Class: (Hagemoser Weinstein Bresnick Syndrome) AnnotationAssertion( "RDO:0003498"^^xsd:string) AnnotationAssertion( "MESH:C537626"^^xsd:string) AnnotationAssertion( "Optic atrophy, deafness and peripheral neuropathy"^^xsd:string) AnnotationAssertion( "Optic atrophy, hearing loss and peripheral neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007918"^^xsd:string) AnnotationAssertion(rdfs:label "Hagemoser Weinstein Bresnick Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Thoracic Neoplasms) AnnotationAssertion(Annotation( "MESH:D013899"^^xsd:string) "New abnormal growth of tissue in the THORAX."^^xsd:string) AnnotationAssertion( "MESH:D013899"^^xsd:string) AnnotationAssertion( "MONDO:0021350"^^xsd:string) AnnotationAssertion( "thoracic neoplasm"^^xsd:string) AnnotationAssertion( "thoracic tumor"^^xsd:string) AnnotationAssertion( "thorax neoplasm"^^xsd:string) AnnotationAssertion( "tumor of thorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007920"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracic Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spina Bifida Cystica) AnnotationAssertion(Annotation( "MESH:D016137"^^xsd:string) "A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)"^^xsd:string) AnnotationAssertion( "MESH:D016137"^^xsd:string) AnnotationAssertion( "RDO:0002756"^^xsd:string) AnnotationAssertion( "Open Spina Bifida"^^xsd:string) AnnotationAssertion( "Spina Bifida Aperta"^^xsd:string) AnnotationAssertion( "Spina Bifida Manifesta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007921"^^xsd:string) AnnotationAssertion(rdfs:label "Spina Bifida Cystica"^^xsd:string) SubClassOf( ) # Class: (Chromosome 5, Monosomy 5q35) AnnotationAssertion( "MESH:C537647"^^xsd:string) AnnotationAssertion( "RDO:0003523"^^xsd:string) AnnotationAssertion( "Deletion 5q35"^^xsd:string) AnnotationAssertion( "Monosomy 5q35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007922"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 5, Monosomy 5q35"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Back Pain) AnnotationAssertion(Annotation( "MESH:D001416"^^xsd:string) "Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions."^^xsd:string) AnnotationAssertion( "MESH:D001416"^^xsd:string) AnnotationAssertion( "RDO:0004964"^^xsd:string) AnnotationAssertion( "Back Ache"^^xsd:string) AnnotationAssertion( "Back Aches"^^xsd:string) AnnotationAssertion( "Back Pain with Radiation"^^xsd:string) AnnotationAssertion( "Back Pain without Radiation"^^xsd:string) AnnotationAssertion( "Back Pains"^^xsd:string) AnnotationAssertion( "Backache"^^xsd:string) AnnotationAssertion( "Backaches"^^xsd:string) AnnotationAssertion( "Vertebrogenic Pain Syndrome"^^xsd:string) AnnotationAssertion( "Vertebrogenic Pain Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007923"^^xsd:string) AnnotationAssertion(rdfs:label "Back Pain"^^xsd:string) SubClassOf( ) # Class: (Dyskinesia with Orofacial Involvement) AnnotationAssertion( "MESH:C564676"^^xsd:string) AnnotationAssertion( "MIM:PS606703"^^xsd:string) AnnotationAssertion( "NCI:C202047"^^xsd:string) AnnotationAssertion( "FDFM"^^xsd:string) AnnotationAssertion( "familial dyskinesia with facial myokymia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007924"^^xsd:string) AnnotationAssertion(rdfs:label "Dyskinesia with Orofacial Involvement"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sudden Cardiac Death) AnnotationAssertion(Annotation( "MESH:D016757"^^xsd:string) "Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)"^^xsd:string) AnnotationAssertion( "EFO:0004278"^^xsd:string) AnnotationAssertion( "MESH:D016757"^^xsd:string) AnnotationAssertion( "sudden cardiac arrest"^^xsd:string) AnnotationAssertion( "sudden cardiac arrests"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FAMILY HISTORY OF SUDDEN CARDIAC DEATH"^^xsd:string) AnnotationAssertion( "DOID:9007925"^^xsd:string) AnnotationAssertion(rdfs:label "Sudden Cardiac Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, X-Linked 3) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T18:36:50Z"^^xsd:string) AnnotationAssertion( "MIM:301120"^^xsd:string) AnnotationAssertion( "HPCX3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007926"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, X-Linked 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Polydactyly Myopia Syndrome) AnnotationAssertion( "MIM:174310"^^xsd:string) AnnotationAssertion( "MESH:C536331"^^xsd:string) AnnotationAssertion( "Czeizel Brooser syndrome"^^xsd:string) AnnotationAssertion( "Postaxial Polydactyly with progressive myopia"^^xsd:string) AnnotationAssertion( "Postaxial polydactyly-progressive myopia syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007927"^^xsd:string) AnnotationAssertion(rdfs:label "Polydactyly Myopia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature) AnnotationAssertion( "MIM:126320"^^xsd:string) AnnotationAssertion( "MESH:C565092"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007928"^^xsd:string) AnnotationAssertion(rdfs:label "Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gastric Diffuse Large B-Cell Lymphoma) AnnotationAssertion(Annotation( "NCI:C5253"^^xsd:string) "This is an extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-09T17:03:18Z"^^xsd:string) AnnotationAssertion( "EFO:1000270"^^xsd:string) AnnotationAssertion( "primary diffuse large B-cell gastric lymphoma"^^xsd:string) AnnotationAssertion( "primary diffuse large B-cell lymphoma of the stomach"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007929"^^xsd:string) AnnotationAssertion(rdfs:label "Gastric Diffuse Large B-Cell Lymphoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Tuberculoma) AnnotationAssertion(Annotation( "MESH:D014375"^^xsd:string) "A tumor-like mass resulting from the enlargement of a tuberculous lesion."^^xsd:string) AnnotationAssertion( "MESH:D014375"^^xsd:string) AnnotationAssertion( "Tuberculomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007931"^^xsd:string) AnnotationAssertion(rdfs:label "Tuberculoma"^^xsd:string) SubClassOf( ) # Class: (Ununited Fractures) AnnotationAssertion(Annotation( "MESH:D005599"^^xsd:string) "A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "EFO:0009707"^^xsd:string) AnnotationAssertion( "MESH:D005599"^^xsd:string) AnnotationAssertion( "Ununited Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007932"^^xsd:string) AnnotationAssertion(rdfs:label "Ununited Fractures"^^xsd:string) SubClassOf( ) # Class: (Richards-Rundle Syndrome) AnnotationAssertion( "MIM:245100"^^xsd:string) AnnotationAssertion( "MESH:C535674"^^xsd:string) AnnotationAssertion( "Ataxia-deafness-retardation syndrome with ketoaciduria"^^xsd:string) AnnotationAssertion( "Familial ataxia-hypogonadism syndrome"^^xsd:string) AnnotationAssertion( "Ketoaciduria With Mental Deficiency And Other Features"^^xsd:string) AnnotationAssertion( "Ketoaciduria-mental deficiency syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007933"^^xsd:string) AnnotationAssertion(rdfs:label "Richards-Rundle Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ectrodactyly-Cleft Palate Syndrome) AnnotationAssertion( "MIM:129830"^^xsd:string) AnnotationAssertion( "MESH:C565064"^^xsd:string) AnnotationAssertion( "ECP syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007934"^^xsd:string) AnnotationAssertion(rdfs:label "Ectrodactyly-Cleft Palate Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gingival Pocket) AnnotationAssertion(Annotation( "MESH:D005888"^^xsd:string) "An abnormal extension of a gingival sulcus not accompanied by the apical migration of the epithelial attachment."^^xsd:string) AnnotationAssertion( "MESH:D005888"^^xsd:string) AnnotationAssertion( "Gingival Pockets"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007935"^^xsd:string) AnnotationAssertion(rdfs:label "Gingival Pocket"^^xsd:string) SubClassOf( ) # Class: (Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature) AnnotationAssertion( "MIM:615139"^^xsd:string) AnnotationAssertion( "FILS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007936"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:619833"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-30T11:29:13Z"^^xsd:string) AnnotationAssertion( "MIM:619833"^^xsd:string) AnnotationAssertion( "NEDNMS"^^xsd:string) AnnotationAssertion( "NRCAM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NRCAM-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007937"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myxomatous Mitral Valve Prolapse 3) AnnotationAssertion( "MIM:610840"^^xsd:string) AnnotationAssertion( "MESH:C563655"^^xsd:string) AnnotationAssertion( "MITRAL VALVE PROLAPSE 3"^^xsd:string) AnnotationAssertion( "MMVP3"^^xsd:string) AnnotationAssertion( "MVP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007938"^^xsd:string) AnnotationAssertion(rdfs:label "Myxomatous Mitral Valve Prolapse 3"^^xsd:string) SubClassOf( ) # Class: (Multiple Self-healing Palmoplantar Carcinoma) AnnotationAssertion( "MIM:615225"^^xsd:string) AnnotationAssertion( "CIDED"^^xsd:string) AnnotationAssertion( "MSPC"^^xsd:string) AnnotationAssertion( "corneal intraepithelial dyskeratosis and ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007939"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Self-healing Palmoplantar Carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Bile Acid Malabsorption 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T10:06:21Z"^^xsd:string) AnnotationAssertion( "MIM:613291"^^xsd:string) AnnotationAssertion( "PBAM1"^^xsd:string) AnnotationAssertion( "SLC10A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007940"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Bile Acid Malabsorption 1"^^xsd:string) SubClassOf( ) # Class: (Retinal Dystrophy with or without Macular Staphyloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "CFAP410-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617547"^^xsd:string) AnnotationAssertion( "RDMS"^^xsd:string) AnnotationAssertion( "retinal dystrophy with macular staphyloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007941"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy with or without Macular Staphyloma"^^xsd:string) SubClassOf( ) # Class: (Nephrosis with Deafness and Urinary Tract and Digital Malformations) AnnotationAssertion( "MIM:256200"^^xsd:string) AnnotationAssertion( "MESH:C536402"^^xsd:string) AnnotationAssertion( "Nephrosis Deafness Urinary Tract Digital Malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007942"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrosis with Deafness and Urinary Tract and Digital Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia/Coloboma 12) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T12:17:20Z"^^xsd:string) AnnotationAssertion( "MIM:120200"^^xsd:string) AnnotationAssertion( "MCOPCB12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007943"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 12"^^xsd:string) SubClassOf( ) # Class: (IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION) AnnotationAssertion(Annotation( "MIM:620514"^^xsd:string) "This disease is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-07T14:11:22Z"^^xsd:string) AnnotationAssertion( "MIM:620514"^^xsd:string) AnnotationAssertion( "ACTIVATING PLCG1 VARIANT-ASSOCIATED SYNDROME"^^xsd:string) AnnotationAssertion( "APLS"^^xsd:string) AnnotationAssertion( "IDAA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007944"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spondyloenchondrodysplasia) AnnotationAssertion( "MESH:C535782"^^xsd:string) AnnotationAssertion( "RDO:0001086"^^xsd:string) AnnotationAssertion( "Spondyloenchondromatosis"^^xsd:string) AnnotationAssertion( "Spondylometaphyseal dysplasia with enchondromatous changes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007945"^^xsd:string) AnnotationAssertion(rdfs:label "Spondyloenchondrodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ichthyosis, Split Hairs, and Amino Aciduria) AnnotationAssertion( "MIM:242550"^^xsd:string) AnnotationAssertion( "MESH:C565471"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007949"^^xsd:string) AnnotationAssertion(rdfs:label "Ichthyosis, Split Hairs, and Amino Aciduria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Auditory Perceptual Impairment) AnnotationAssertion( "MESH:C538436"^^xsd:string) AnnotationAssertion( "RDO:0004408"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007950"^^xsd:string) AnnotationAssertion(rdfs:label "Auditory Perceptual Impairment"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cystinosis, Ocular Nonnephropathic) AnnotationAssertion( "MIM:219750"^^xsd:string) AnnotationAssertion( "MESH:C535765"^^xsd:string) AnnotationAssertion( "ORDO:411641"^^xsd:string) AnnotationAssertion( "Cystinosis, Adult Nonnephropathic"^^xsd:string) AnnotationAssertion( "Cystinosis, Benign Nonnephropathic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007952"^^xsd:string) AnnotationAssertion(rdfs:label "Cystinosis, Ocular Nonnephropathic"^^xsd:string) SubClassOf( ) # Class: (Headache Disorders) AnnotationAssertion(Annotation( "MESH:D020773"^^xsd:string) "Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"^^xsd:string) AnnotationAssertion( "EFO:0009550"^^xsd:string) AnnotationAssertion( "MESH:D020773"^^xsd:string) AnnotationAssertion( "RDO:0007428"^^xsd:string) AnnotationAssertion( "Cephalgia Syndrome"^^xsd:string) AnnotationAssertion( "Cephalgia Syndromes"^^xsd:string) AnnotationAssertion( "Chronic Daily Headache"^^xsd:string) AnnotationAssertion( "Chronic Daily Headaches"^^xsd:string) AnnotationAssertion( "Chronic Headache"^^xsd:string) AnnotationAssertion( "Chronic Headaches"^^xsd:string) AnnotationAssertion( "Headache Disorder"^^xsd:string) AnnotationAssertion( "Headache Syndrome"^^xsd:string) AnnotationAssertion( "Headache Syndromes"^^xsd:string) AnnotationAssertion( "Intractable Headache"^^xsd:string) AnnotationAssertion( "Intractable Headaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007953"^^xsd:string) AnnotationAssertion(rdfs:label "Headache Disorders"^^xsd:string) SubClassOf( ) # Class: (CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA) AnnotationAssertion(Annotation( "MIM:620558"^^xsd:string) "This disease is characterized by macrocephaly, cranial hyperostosis, anvertebral endplate sclerosis, and hip dysplasia. Bone biopsy of patients shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-18T10:03:52Z"^^xsd:string) AnnotationAssertion( "MIM:620558"^^xsd:string) AnnotationAssertion( "CMDOH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007954"^^xsd:string) AnnotationAssertion(rdfs:label "CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA"^^xsd:string) SubClassOf( ) # Class: (Feline Panleukopenia) AnnotationAssertion(Annotation( "MESH:D005254"^^xsd:string) "A highly contagious DNA virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by FELINE PANLEUKOPENIA VIRUS or the closely related MINK ENTERITIS VIRUS or CANINE PARVOVIRUS."^^xsd:string) AnnotationAssertion( "MESH:D005254"^^xsd:string) AnnotationAssertion( "Cat Plague"^^xsd:string) AnnotationAssertion( "Cat Plagues"^^xsd:string) AnnotationAssertion( "Feline Agranulocytoses"^^xsd:string) AnnotationAssertion( "Feline Agranulocytosis"^^xsd:string) AnnotationAssertion( "Feline Ataxia"^^xsd:string) AnnotationAssertion( "Feline Ataxias"^^xsd:string) AnnotationAssertion( "Feline Distemper"^^xsd:string) AnnotationAssertion( "Feline Distempers"^^xsd:string) AnnotationAssertion( "Feline Infectious Enteritides"^^xsd:string) AnnotationAssertion( "Feline Infectious Enteritis"^^xsd:string) AnnotationAssertion( "Feline Panleukopenias"^^xsd:string) AnnotationAssertion( "Show Fever"^^xsd:string) AnnotationAssertion( "Show Fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007955"^^xsd:string) AnnotationAssertion(rdfs:label "Feline Panleukopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Febrile Seizures) AnnotationAssertion(Annotation( "MESH:D003294"^^xsd:string) "Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)"^^xsd:string) AnnotationAssertion( "EFO:0006519"^^xsd:string) AnnotationAssertion( "MESH:D003294"^^xsd:string) AnnotationAssertion( "COMPLEX FEBRILE SEIZURES"^^xsd:string) AnnotationAssertion( "Febrile Convulsion"^^xsd:string) AnnotationAssertion( "Febrile Convulsion Seizure"^^xsd:string) AnnotationAssertion( "Febrile Convulsion Seizures"^^xsd:string) AnnotationAssertion( "Febrile Convulsions"^^xsd:string) AnnotationAssertion( "Febrile Fit"^^xsd:string) AnnotationAssertion( "Febrile Fits"^^xsd:string) AnnotationAssertion( "Febrile Seizure"^^xsd:string) AnnotationAssertion( "Fever Convulsion"^^xsd:string) AnnotationAssertion( "Fever Convulsions"^^xsd:string) AnnotationAssertion( "Fever Seizure"^^xsd:string) AnnotationAssertion( "Fever Seizures"^^xsd:string) AnnotationAssertion( "Pyrexial Convulsion"^^xsd:string) AnnotationAssertion( "Pyrexial Convulsions"^^xsd:string) AnnotationAssertion( "Pyrexial Seizure"^^xsd:string) AnnotationAssertion( "Pyrexial Seizures"^^xsd:string) AnnotationAssertion( "febrile seizure, complex"^^xsd:string) AnnotationAssertion( "febrile seizure, simple"^^xsd:string) AnnotationAssertion( "MMR-related febrile seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007956"^^xsd:string) AnnotationAssertion(rdfs:label "Febrile Seizures"^^xsd:string) SubClassOf( ) # Class: (Transient Neonatal Hyperglycinemia) AnnotationAssertion( "MESH:C562672"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007957"^^xsd:string) AnnotationAssertion(rdfs:label "Transient Neonatal Hyperglycinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodegeneration with Ataxia and Late-Onset Optic Atrophy) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-13T13:33:51Z"^^xsd:string) AnnotationAssertion( "MIM:619259"^^xsd:string) AnnotationAssertion( "NDAXOA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007959"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodegeneration with Ataxia and Late-Onset Optic Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adult-Onset Muscular Dystrophy with Leukoencephalopathy) AnnotationAssertion( "MIM:253590"^^xsd:string) AnnotationAssertion( "MESH:C565361"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007960"^^xsd:string) AnnotationAssertion(rdfs:label "Adult-Onset Muscular Dystrophy with Leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniofacial Microsomia 2) AnnotationAssertion( "A craniofacial microsomia caused by homozygous or heterozygous mutation in the FOXI3 gene on chromosome 2p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-25T09:29:29Z"^^xsd:string) AnnotationAssertion( "MIM:620444"^^xsd:string) AnnotationAssertion( "MONDO:0958194"^^xsd:string) AnnotationAssertion( "CFM2"^^xsd:string) AnnotationAssertion( "FOXI3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007962"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Microsomia 2"^^xsd:string) SubClassOf( ) # Class: (Keratoconus Posticus Circumscriptus with Associated Malformations) AnnotationAssertion( "MESH:C565455"^^xsd:string) AnnotationAssertion( "KPC with Associated Malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007963"^^xsd:string) AnnotationAssertion(rdfs:label "Keratoconus Posticus Circumscriptus with Associated Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Arsenic Poisoning) AnnotationAssertion(Annotation( "MESH:D020261"^^xsd:string) "Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212)"^^xsd:string) AnnotationAssertion( "MESH:D020261"^^xsd:string) AnnotationAssertion( "RDO:0007378"^^xsd:string) AnnotationAssertion( "Arsenic Encephalopathies"^^xsd:string) AnnotationAssertion( "Arsenic Encephalopathy"^^xsd:string) AnnotationAssertion( "Arsenic Induced Polyneuropathy"^^xsd:string) AnnotationAssertion( "Arsenic Poisoning, Nervous System"^^xsd:string) AnnotationAssertion( "Arsenic Poisonings"^^xsd:string) AnnotationAssertion( "Arsenic-Induced Polyneuropathies"^^xsd:string) AnnotationAssertion( "Arsenical Neurotoxicity Syndrome"^^xsd:string) AnnotationAssertion( "Arsenical Neurotoxicity Syndromes"^^xsd:string) AnnotationAssertion( "Inorganic Arsenic Poisoning"^^xsd:string) AnnotationAssertion( "Inorganic Arsenic Poisonings"^^xsd:string) AnnotationAssertion( "Nervous System, Organic Arsenic Poisoning"^^xsd:string) AnnotationAssertion( "Organic Arsenic Poisoning"^^xsd:string) AnnotationAssertion( "Organic Arsenic Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007964"^^xsd:string) AnnotationAssertion(rdfs:label "Arsenic Poisoning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vitelliform Macular Dystrophy 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-26T09:29:41Z"^^xsd:string) AnnotationAssertion( "MIM:608161"^^xsd:string) AnnotationAssertion( "ADULT ONSET VITELLIFORM DYSTROPHY"^^xsd:string) AnnotationAssertion( "AOFMD"^^xsd:string) AnnotationAssertion( "AVMD"^^xsd:string) AnnotationAssertion( "Adult Onset Vitelliform Macular Dystrophy"^^xsd:string) AnnotationAssertion( "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION"^^xsd:string) AnnotationAssertion( "Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization"^^xsd:string) AnnotationAssertion( "VMD3"^^xsd:string) AnnotationAssertion( "adult-onset foveomacular dystrophies"^^xsd:string) AnnotationAssertion( "adult-onset foveomacular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007965"^^xsd:string) AnnotationAssertion(rdfs:label "Vitelliform Macular Dystrophy 3"^^xsd:string) SubClassOf( ) # Class: (Nonsyndromic Sensorineural Hearing Loss) AnnotationAssertion( "MESH:C537845"^^xsd:string) AnnotationAssertion( "NON-SYNDROMIC HEREDITARY HEARING IMPAIRMENT"^^xsd:string) AnnotationAssertion( "nonsyndromic hereditary hearing impairment"^^xsd:string) AnnotationAssertion( "Nonsyndromic hearing loss, dominant"^^xsd:string) AnnotationAssertion( "autosomal dominant nonsyndromic hereditary hearing impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007966"^^xsd:string) AnnotationAssertion(rdfs:label "Nonsyndromic Sensorineural Hearing Loss"^^xsd:string) SubClassOf( ) # Class: (Alpha-Fetoprotein, Hereditary Persistence of) AnnotationAssertion(Annotation( "MIM:615970"^^xsd:string) "A clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. Caused by heterozygous mutation in the AFP gene on chromosome 4q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-12-20T09:37:30Z"^^xsd:string) AnnotationAssertion( "MIM:615970"^^xsd:string) AnnotationAssertion( "HPAFP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007967"^^xsd:string) AnnotationAssertion(rdfs:label "Alpha-Fetoprotein, Hereditary Persistence of"^^xsd:string) SubClassOf( ) # Class: (Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly) AnnotationAssertion( "RDO:0003951"^^xsd:string) AnnotationAssertion( "MESH:C538016"^^xsd:string) AnnotationAssertion( "Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007968"^^xsd:string) AnnotationAssertion(rdfs:label "Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Necrobiotic Xanthogranuloma) AnnotationAssertion(Annotation( "MESH:D058252"^^xsd:string) "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement."^^xsd:string) AnnotationAssertion( "EFO:1001376"^^xsd:string) AnnotationAssertion( "MESH:D058252"^^xsd:string) AnnotationAssertion( "Necrobiotic Xanthogranulomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007969"^^xsd:string) AnnotationAssertion(rdfs:label "Necrobiotic Xanthogranuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Cerebral Hypoperfusion) AnnotationAssertion( "A major factor contributing to cognitive decline in age-related neurological disorders. Such a decrease in cerebral blood flow has been associated with Alzheimer disease and vascular dementia."^^xsd:string) AnnotationAssertion( "RDO:9000062"^^xsd:string) AnnotationAssertion( "CCH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007970"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Cerebral Hypoperfusion"^^xsd:string) SubClassOf( ) # Class: (Nose Neoplasms) AnnotationAssertion(Annotation( "MESH:D009669"^^xsd:string) "Tumors or cancer of the NOSE."^^xsd:string) AnnotationAssertion( "MESH:D009669"^^xsd:string) AnnotationAssertion( "RDO:0000965"^^xsd:string) AnnotationAssertion( "Cancer of Nose"^^xsd:string) AnnotationAssertion( "Cancer of the Nose"^^xsd:string) AnnotationAssertion( "Nasal Cancer"^^xsd:string) AnnotationAssertion( "Nasal Cancers"^^xsd:string) AnnotationAssertion( "Nasal Neoplasm"^^xsd:string) AnnotationAssertion( "Nasal Neoplasms"^^xsd:string) AnnotationAssertion( "Nose Cancer"^^xsd:string) AnnotationAssertion( "Nose Cancers"^^xsd:string) AnnotationAssertion( "Nose Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007971"^^xsd:string) AnnotationAssertion(rdfs:label "Nose Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vein of Galen Malformations) AnnotationAssertion(Annotation( "MESH:D054080"^^xsd:string) "Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE."^^xsd:string) AnnotationAssertion( "MESH:D054080"^^xsd:string) AnnotationAssertion( "Galen Vein Malformations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007972"^^xsd:string) AnnotationAssertion(rdfs:label "Vein of Galen Malformations"^^xsd:string) SubClassOf( ) # Class: (Genetic Translocation) AnnotationAssertion(Annotation( "MESH:D014178"^^xsd:string) "A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome."^^xsd:string) AnnotationAssertion( "MESH:D014178"^^xsd:string) AnnotationAssertion( "Chromosomal Translocation"^^xsd:string) AnnotationAssertion( "Chromosomal Translocations"^^xsd:string) AnnotationAssertion( "Genetic Translocations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007973"^^xsd:string) AnnotationAssertion(rdfs:label "Genetic Translocation"^^xsd:string) SubClassOf( ) # Class: (Torus Palatinus and Torus Mandibularis) AnnotationAssertion( "MIM:189700"^^xsd:string) AnnotationAssertion( "MESH:C566043"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007974"^^xsd:string) AnnotationAssertion(rdfs:label "Torus Palatinus and Torus Mandibularis"^^xsd:string) SubClassOf( ) # Class: (Broad Terminal Phalanges, Familial) AnnotationAssertion( "MIM:602071"^^xsd:string) AnnotationAssertion( "MESH:C566588"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007975"^^xsd:string) AnnotationAssertion(rdfs:label "Broad Terminal Phalanges, Familial"^^xsd:string) SubClassOf( ) # Class: (Vesicovaginal Fistula) AnnotationAssertion(Annotation( "MESH:D014719"^^xsd:string) "An abnormal anatomical passage between the URINARY BLADDER and the VAGINA."^^xsd:string) AnnotationAssertion( "MESH:D014719"^^xsd:string) AnnotationAssertion( "Vesico Vaginal Fistula"^^xsd:string) AnnotationAssertion( "Vesico Vaginal Fistulae"^^xsd:string) AnnotationAssertion( "Vesico-Vaginal Fistulas"^^xsd:string) AnnotationAssertion( "Vesicovaginal Fistulae"^^xsd:string) AnnotationAssertion( "Vesicovaginal Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007976"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicovaginal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Asymmetric Short Stature Syndrome) AnnotationAssertion( "MIM:108450"^^xsd:string) AnnotationAssertion( "MESH:C566248"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007977"^^xsd:string) AnnotationAssertion(rdfs:label "Asymmetric Short Stature Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Grange Syndrome) AnnotationAssertion( "MIM:602531"^^xsd:string) AnnotationAssertion( "MESH:C566529"^^xsd:string) AnnotationAssertion( "GRNG"^^xsd:string) AnnotationAssertion( "Grange occlusive arterial syndrome"^^xsd:string) AnnotationAssertion( "progressive arterial occlusive disease with hypertension, heart defects, bone fragility, and brachysyndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007978"^^xsd:string) AnnotationAssertion(rdfs:label "Grange Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Microphthalmia with Corectopia) AnnotationAssertion( "MIM:156900"^^xsd:string) AnnotationAssertion( "MESH:C563581"^^xsd:string) AnnotationAssertion( "MCOPCR"^^xsd:string) AnnotationAssertion( "Microphthalmia And Corectopia"^^xsd:string) AnnotationAssertion( "Microphthalmia With Myopia And Corectopia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007979"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Microphthalmia with Corectopia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sleep Deprivation) AnnotationAssertion(Annotation( "MESH:D012892"^^xsd:string) "The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder."^^xsd:string) AnnotationAssertion( "MESH:D012892"^^xsd:string) AnnotationAssertion( "Insufficient Sleep Syndrome"^^xsd:string) AnnotationAssertion( "Insufficient Sleep Syndromes"^^xsd:string) AnnotationAssertion( "REM Sleep Deprivation"^^xsd:string) AnnotationAssertion( "REM Sleep Deprivations"^^xsd:string) AnnotationAssertion( "Sleep Deprivations"^^xsd:string) AnnotationAssertion( "Sleep Fragmentation"^^xsd:string) AnnotationAssertion( "Sleep Fragmentations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007980"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep Deprivation"^^xsd:string) SubClassOf( ) # Class: (Pagon Stephan Syndrome) AnnotationAssertion( "GARD:0004195"^^xsd:string) AnnotationAssertion( "MESH:C538100"^^xsd:string) AnnotationAssertion( "Septo-optic dysplasia with digital anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007981"^^xsd:string) AnnotationAssertion(rdfs:label "Pagon Stephan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cranial Nerves, Congenital Paresis of) AnnotationAssertion( "MIM:218100"^^xsd:string) AnnotationAssertion( "MESH:C565673"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007983"^^xsd:string) AnnotationAssertion(rdfs:label "Cranial Nerves, Congenital Paresis of"^^xsd:string) SubClassOf( ) # Class: (Fleck Retina of Kandori) AnnotationAssertion( "MIM:228990"^^xsd:string) AnnotationAssertion( "MESH:C562701"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007984"^^xsd:string) AnnotationAssertion(rdfs:label "Fleck Retina of Kandori"^^xsd:string) SubClassOf( ) # Class: (Halal Syndrome) AnnotationAssertion( "MESH:C535622"^^xsd:string) AnnotationAssertion( "Microcephaly cleft palate autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007985"^^xsd:string) AnnotationAssertion(rdfs:label "Halal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION) AnnotationAssertion(Annotation( "MIM:620515"^^xsd:string) "This disease is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation. Short stature and small head circumference or microcephaly are observed."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-09T11:39:58Z"^^xsd:string) AnnotationAssertion( "MIM:620515"^^xsd:string) AnnotationAssertion( "NEDRSO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007986"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION) AnnotationAssertion(Annotation( "MIM:620089"^^xsd:string) "This disease is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. The disorder is progressive and has features suggestive of a mitochondrial disorder: cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-13T08:49:53Z"^^xsd:string) AnnotationAssertion( "MIM:620089"^^xsd:string) AnnotationAssertion( "CONDMIM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007987"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Granulomatous Interstitial Nephritis) AnnotationAssertion( "Inflammation of the interstitial tissue of the kidney with formation of granulomas."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GIN"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007988"^^xsd:string) AnnotationAssertion(rdfs:label "Granulomatous Interstitial Nephritis"^^xsd:string) SubClassOf( ) # Class: (Green Sandford Davison Syndrome) AnnotationAssertion( "MESH:C538221"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007989"^^xsd:string) AnnotationAssertion(rdfs:label "Green Sandford Davison Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Angioedema 8) AnnotationAssertion(Annotation( "MIM:619367"^^xsd:string) "This disease is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localised edema in various organs, including the face, tongue, larynx, and extremities. The disorder results from enhanced vascular permeability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-08-10T17:30:25Z"^^xsd:string) AnnotationAssertion( "MIM:619367"^^xsd:string) AnnotationAssertion( "HAE8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007991"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Angioedema 8"^^xsd:string) SubClassOf( ) # Class: (Hyperphosphatemic Familial Tumoral Calcinosis 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-05-02T09:14:40Z"^^xsd:string) AnnotationAssertion( "MIM:211900"^^xsd:string) AnnotationAssertion( "HFTC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007992"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphosphatemic Familial Tumoral Calcinosis 1"^^xsd:string) SubClassOf( ) # Class: (Dehydration) AnnotationAssertion(Annotation( "MESH:D003681"^^xsd:string) "The condition that results from excessive loss of water from a living organism."^^xsd:string) AnnotationAssertion( "EFO:0009385"^^xsd:string) AnnotationAssertion( "MESH:D003681"^^xsd:string) AnnotationAssertion( "Water Stress"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007993"^^xsd:string) AnnotationAssertion(rdfs:label "Dehydration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ligament rupture) AnnotationAssertion(Annotation( "EFO:1002012"^^xsd:string) "This is a partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-06T11:04:11Z"^^xsd:string) AnnotationAssertion( "EFO:1002012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007994"^^xsd:string) AnnotationAssertion(rdfs:label "ligament rupture"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (End Stage Liver Disease) AnnotationAssertion(Annotation( "MESH:D058625"^^xsd:string) "Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed."^^xsd:string) AnnotationAssertion( "EFO:1001311"^^xsd:string) AnnotationAssertion( "MESH:D058625"^^xsd:string) AnnotationAssertion( "RDO:0007844"^^xsd:string) AnnotationAssertion( "Chronic Liver Failure"^^xsd:string) AnnotationAssertion( "Chronic Liver Failures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007996"^^xsd:string) AnnotationAssertion(rdfs:label "End Stage Liver Disease"^^xsd:string) SubClassOf( ) # Class: (Mental Retardation Syndrome, Belgian Type) AnnotationAssertion( "MIM:249599"^^xsd:string) AnnotationAssertion( "MESH:C537447"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007997"^^xsd:string) AnnotationAssertion(rdfs:label "Mental Retardation Syndrome, Belgian Type"^^xsd:string) SubClassOf( ) # Class: (Hydatidiform Mole, Invasive) AnnotationAssertion(Annotation( "MESH:D002820"^^xsd:string) "A uterine tumor derived from persistent gestational TROPHOBLASTS, most likely after a molar pregnancy (HYDATIDIFORM MOLE). Invasive hyadatiform mole develops in about 15% of patients after evacuation of a complete mole and less frequently after other types of gestation. It may perforate the MYOMETRIUM and erode uterine vessels causing hemorrhage."^^xsd:string) AnnotationAssertion( "MESH:D002820"^^xsd:string) AnnotationAssertion( "RDO:0005203"^^xsd:string) AnnotationAssertion( "Chorioadenoma"^^xsd:string) AnnotationAssertion( "Chorioadenomas"^^xsd:string) AnnotationAssertion( "Invasive Hydatidiform Moles"^^xsd:string) AnnotationAssertion( "Invasive Mole"^^xsd:string) AnnotationAssertion( "Invasive Moles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007998"^^xsd:string) AnnotationAssertion(rdfs:label "Hydatidiform Mole, Invasive"^^xsd:string) SubClassOf( ) # Class: (Pyelocystitis) AnnotationAssertion(Annotation( "MESH:D053653"^^xsd:string) "Inflammation of the KIDNEY PELVIS and the URINARY BLADDER."^^xsd:string) AnnotationAssertion( "EFO:1001835"^^xsd:string) AnnotationAssertion( "MESH:D053653"^^xsd:string) AnnotationAssertion( "Cystopyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9007999"^^xsd:string) AnnotationAssertion(rdfs:label "Pyelocystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (psoriatic arthritis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Psoriatic_arthropathy"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/psoriatic-arthritis"^^xsd:string) "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607507"^^xsd:string) AnnotationAssertion( "EFO:0003778"^^xsd:string) AnnotationAssertion( "ICD10CM:L40.5"^^xsd:string) AnnotationAssertion( "ICD9CM:696.0"^^xsd:string) AnnotationAssertion( "MESH:D015535"^^xsd:string) AnnotationAssertion( "NCI:C61277"^^xsd:string) AnnotationAssertion( "Arthritic Psoriasis"^^xsd:string) AnnotationAssertion( "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Psoriasis Arthropathica"^^xsd:string) AnnotationAssertion( "Psoriatic Arthropathies"^^xsd:string) AnnotationAssertion( "Psoriatic Arthropathy"^^xsd:string) AnnotationAssertion( "arthritis psoriatica"^^xsd:string) AnnotationAssertion( "arthropathic psoriasis"^^xsd:string) AnnotationAssertion( "PSORAS1"^^xsd:string) AnnotationAssertion( "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008"^^xsd:string) AnnotationAssertion(rdfs:label "psoriatic arthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Emery-Dreifuss Muscular Dystrophy) AnnotationAssertion( "Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-18T17:21:11Z"^^xsd:string) AnnotationAssertion( "MESH:D000083144"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008000"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Emery-Dreifuss Muscular Dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Febrile Seizures 3B) AnnotationAssertion( "MESH:C567821"^^xsd:string) AnnotationAssertion( "Familial Febrile Convulsions 3B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008001"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Febrile Seizures 3B"^^xsd:string) SubClassOf( ) # Class: (HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME) AnnotationAssertion(Annotation( "MIM:619311"^^xsd:string) "This is a disease characterized by global developmental delay with delayed walking or inability to walk, impaired intellectual development with poor or absent speech, axial hypotonia and dysmorphic facies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-06-17T12:48:32Z"^^xsd:string) AnnotationAssertion( "MIM:619311"^^xsd:string) AnnotationAssertion( "HINCONS"^^xsd:string) AnnotationAssertion( "RALA-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008002"^^xsd:string) AnnotationAssertion(rdfs:label "HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mandibulofacial Dysostosis) AnnotationAssertion(Annotation( "MESH:D008342"^^xsd:string) "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D008342"^^xsd:string) AnnotationAssertion( "RDO:0000931"^^xsd:string) AnnotationAssertion( "Franceschetti-Zwahlen-Klein Syndrome"^^xsd:string) AnnotationAssertion( "Mandibulofacial Dysostoses"^^xsd:string) AnnotationAssertion( "TCOF"^^xsd:string) AnnotationAssertion( "Treacher Collins-Franceschetti Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008003"^^xsd:string) AnnotationAssertion(rdfs:label "Mandibulofacial Dysostosis"^^xsd:string) SubClassOf( ) # Class: (Aicardi-Goutieres Syndrome 3) AnnotationAssertion( "MIM:610329"^^xsd:string) AnnotationAssertion( "MESH:C563683"^^xsd:string) AnnotationAssertion( "AGS3"^^xsd:string) AnnotationAssertion( "RNASEH2C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008004"^^xsd:string) AnnotationAssertion(rdfs:label "Aicardi-Goutieres Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Postpartum Thyroiditis) AnnotationAssertion(Annotation( "MESH:D050032"^^xsd:string) "Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum."^^xsd:string) AnnotationAssertion( "EFO:1001403"^^xsd:string) AnnotationAssertion( "MESH:D050032"^^xsd:string) AnnotationAssertion( "RDO:0007564"^^xsd:string) AnnotationAssertion( "Post partum Thyroiditis"^^xsd:string) AnnotationAssertion( "Post-partum Thyroiditides"^^xsd:string) AnnotationAssertion( "Postpartum Thyroiditides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008005"^^xsd:string) AnnotationAssertion(rdfs:label "Postpartum Thyroiditis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bagatelle Cassidy Syndrome) AnnotationAssertion( "MESH:C537796"^^xsd:string) AnnotationAssertion( "Macrocephaly short limbs deafness"^^xsd:string) AnnotationAssertion( "Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008007"^^xsd:string) AnnotationAssertion(rdfs:label "Bagatelle Cassidy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myxomatous Mitral Valve Prolapse 1) AnnotationAssertion( "MIM:157700"^^xsd:string) AnnotationAssertion( "MESH:C537478"^^xsd:string) AnnotationAssertion( "MESH:C563573"^^xsd:string) AnnotationAssertion( "MITRAL REGURGITATION, FAMILIAL"^^xsd:string) AnnotationAssertion( "MITRAL VALVE PROLAPSE, FAMILIAL"^^xsd:string) AnnotationAssertion( "MMVP1"^^xsd:string) AnnotationAssertion( "MVP PROLAPSED MITRAL VALVE"^^xsd:string) AnnotationAssertion( "MVP1"^^xsd:string) AnnotationAssertion( "MYXOMATOUS MITRAL VALVE PROLAPSE 1"^^xsd:string) AnnotationAssertion( "Mitral valve prolapse, familial, X-linked"^^xsd:string) AnnotationAssertion( "PMV"^^xsd:string) AnnotationAssertion( "familial myxomatous valvular disease"^^xsd:string) AnnotationAssertion( "mitral valve prolapse 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008008"^^xsd:string) AnnotationAssertion(rdfs:label "Myxomatous Mitral Valve Prolapse 1"^^xsd:string) SubClassOf( ) # Class: (Gigantomastia) AnnotationAssertion( "MIM:113670"^^xsd:string) AnnotationAssertion( "MESH:C536821"^^xsd:string) AnnotationAssertion( "Hypertrophy of the Breast, Juvenile"^^xsd:string) AnnotationAssertion( "Juvenile gigantomastia"^^xsd:string) AnnotationAssertion( "gestational gigantomastia"^^xsd:string) AnnotationAssertion( "macromastia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008009"^^xsd:string) AnnotationAssertion(rdfs:label "Gigantomastia"^^xsd:string) SubClassOf( ) # Class: (4-Hydroxyphenylacetic Aciduria) AnnotationAssertion( "MESH:C535315"^^xsd:string) AnnotationAssertion( "RDO:0000362"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008010"^^xsd:string) AnnotationAssertion(rdfs:label "4-Hydroxyphenylacetic Aciduria"^^xsd:string) SubClassOf( ) # Class: (Prostate Cancer, Hereditary, X-Linked 2) AnnotationAssertion( "MESH:C567477"^^xsd:string) AnnotationAssertion( "MIM:300704"^^xsd:string) AnnotationAssertion( "MONDO:0010405"^^xsd:string) AnnotationAssertion( "HPCX2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008011"^^xsd:string) AnnotationAssertion(rdfs:label "Prostate Cancer, Hereditary, X-Linked 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lysosomal Storage Diseases, Nervous System) AnnotationAssertion(Annotation( "MESH:D020140"^^xsd:string) "A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes."^^xsd:string) AnnotationAssertion( "MESH:D020140"^^xsd:string) AnnotationAssertion( "Nervous System Lysosomal Enzyme Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008012"^^xsd:string) AnnotationAssertion(rdfs:label "Lysosomal Storage Diseases, Nervous System"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sporadic Papillary Renal Cell Carcinoma) AnnotationAssertion( "RDO:0004542"^^xsd:string) AnnotationAssertion( "MESH:C538614"^^xsd:string) AnnotationAssertion( "Papillary renal carcinoma, malignant"^^xsd:string) AnnotationAssertion( "Papillary renal cell carcinoma, bilateral"^^xsd:string) AnnotationAssertion( "Papillary renal cell carcinoma, familial"^^xsd:string) AnnotationAssertion( "Papillary renal cell carcinoma, multiple"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008013"^^xsd:string) AnnotationAssertion(rdfs:label "Sporadic Papillary Renal Cell Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease, Dominant Intermediate 1) AnnotationAssertion( "MESH:C535399"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008014"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease, Dominant Intermediate 1"^^xsd:string) SubClassOf( ) # Class: (Sandhoff Disease, Adult Type) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008015"^^xsd:string) AnnotationAssertion(rdfs:label "Sandhoff Disease, Adult Type"^^xsd:string) SubClassOf( ) # Class: (Pena Shokeir Syndrome Type 2) AnnotationAssertion( "MESH:C536646"^^xsd:string) AnnotationAssertion( "RDO:0002286"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008016"^^xsd:string) AnnotationAssertion(rdfs:label "Pena Shokeir Syndrome Type 2"^^xsd:string) SubClassOf( ) # Class: (Juvenile Linear Scleroderma) AnnotationAssertion( "MESH:C543758"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008017"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Linear Scleroderma"^^xsd:string) SubClassOf( ) # Class: (Nondystrophic Myotonia) AnnotationAssertion( "MESH:C536245"^^xsd:string) AnnotationAssertion( "RDO:0001744"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008018"^^xsd:string) AnnotationAssertion(rdfs:label "Nondystrophic Myotonia"^^xsd:string) SubClassOf( ) # Class: (CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY) AnnotationAssertion(Annotation( "MIM:620469"^^xsd:string) "This disease is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-09-14T09:49:47Z"^^xsd:string) AnnotationAssertion( "MIM:620469"^^xsd:string) AnnotationAssertion( "CCDDRD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008019"^^xsd:string) AnnotationAssertion(rdfs:label "CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Goldstein Hutt Syndrome) AnnotationAssertion( "MESH:C537282"^^xsd:string) AnnotationAssertion( "RDO:0003096"^^xsd:string) AnnotationAssertion( "Long eyelashes, cataract, and hereditary spherocytosis"^^xsd:string) AnnotationAssertion( "Trichomegaly, cataract, and hereditary spherocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008020"^^xsd:string) AnnotationAssertion(rdfs:label "Goldstein Hutt Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 10) AnnotationAssertion( "RDO:9000186"^^xsd:string) AnnotationAssertion( "MIM:614022"^^xsd:string) AnnotationAssertion( "ATFB10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008021"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 10"^^xsd:string) SubClassOf( ) # Class: (Temporomandibular Joint Osteoarthritis) AnnotationAssertion( "A progressive, degenerative joint disease of the temporomandibular joint, resulting from biomechanical stress."^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008022"^^xsd:string) AnnotationAssertion(rdfs:label "Temporomandibular Joint Osteoarthritis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Memory Disorders) AnnotationAssertion(Annotation( "MESH:D008569"^^xsd:string) "Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions."^^xsd:string) AnnotationAssertion( "EFO:0001072"^^xsd:string) AnnotationAssertion( "MESH:D008569"^^xsd:string) AnnotationAssertion( "Age Related Memory Disorders"^^xsd:string) AnnotationAssertion( "Age-Related Memory Disorder"^^xsd:string) AnnotationAssertion( "Cognitive Retention Disorder"^^xsd:string) AnnotationAssertion( "Cognitive Retention Disorders"^^xsd:string) AnnotationAssertion( "Memory Deficit"^^xsd:string) AnnotationAssertion( "Memory Deficits"^^xsd:string) AnnotationAssertion( "Memory Disorder"^^xsd:string) AnnotationAssertion( "Memory Loss"^^xsd:string) AnnotationAssertion( "Memory Losses"^^xsd:string) AnnotationAssertion( "Semantic Memory Disorder"^^xsd:string) AnnotationAssertion( "Semantic Memory Disorders"^^xsd:string) AnnotationAssertion( "Spatial Memory Disorder"^^xsd:string) AnnotationAssertion( "Spatial Memory Disorders"^^xsd:string) AnnotationAssertion( "memory impairment"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "MEMORY IMPAIRMENT, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9008023"^^xsd:string) AnnotationAssertion(rdfs:label "Memory Disorders"^^xsd:string) SubClassOf( ) # Class: (Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1) AnnotationAssertion( "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617186"^^xsd:string) AnnotationAssertion( "NAXE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PEBEL1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008024"^^xsd:string) AnnotationAssertion(rdfs:label "Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1"^^xsd:string) SubClassOf( ) # Class: (Priapism, Familial Idiopathic) AnnotationAssertion( "MIM:176620"^^xsd:string) AnnotationAssertion( "MESH:C531791"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008025"^^xsd:string) AnnotationAssertion(rdfs:label "Priapism, Familial Idiopathic"^^xsd:string) SubClassOf( ) # Class: (Myopia 3) AnnotationAssertion( "MIM:603221"^^xsd:string) AnnotationAssertion( "MESH:C566397"^^xsd:string) AnnotationAssertion( "MYOPIA 3, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "MYP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008026"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 3"^^xsd:string) SubClassOf( ) # Class: (Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract) AnnotationAssertion( "MESH:C566280"^^xsd:string) AnnotationAssertion( "MIM:106230"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008027"^^xsd:string) AnnotationAssertion(rdfs:label "Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Visceral Heterotaxy 10, Autosomal) AnnotationAssertion(Annotation( "MIM:619607"^^xsd:string) "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous mutation in the CFAP52 gene on chromosome 17p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-11-09T14:29:59Z"^^xsd:string) AnnotationAssertion( "MIM:619607"^^xsd:string) AnnotationAssertion( "HTX10"^^xsd:string) AnnotationAssertion( "autosomal visceral heterotaxy 10 with male infertility"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008028"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 10, Autosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anaplasmataceae Infections) AnnotationAssertion(Annotation( "MESH:D000711"^^xsd:string) "Infections with bacteria of the family ANAPLASMATACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001123"^^xsd:string) AnnotationAssertion( "MESH:D000711"^^xsd:string) AnnotationAssertion( "Anaplasmataceae Infection"^^xsd:string) AnnotationAssertion( "Haemobartonelloses"^^xsd:string) AnnotationAssertion( "Haemobartonellosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008029"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplasmataceae Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ataxia-Microcephaly-Cataract Syndrome) AnnotationAssertion( "MIM:208870"^^xsd:string) AnnotationAssertion( "MESH:C563086"^^xsd:string) AnnotationAssertion( "AMC Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008031"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia-Microcephaly-Cataract Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Gracile Bone Dysplasia) AnnotationAssertion( "MIM:602361"^^xsd:string) AnnotationAssertion( "FAM111A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537291"^^xsd:string) AnnotationAssertion( "GCLEB"^^xsd:string) AnnotationAssertion( "Habrodysplasia"^^xsd:string) AnnotationAssertion( "Osteocraniosplenic syndrome"^^xsd:string) AnnotationAssertion( "Osteocraniostenosis"^^xsd:string) AnnotationAssertion( "lethal skeletal dysplasia with gracile bones"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008032"^^xsd:string) AnnotationAssertion(rdfs:label "Gracile Bone Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Agammaglobulinemia, Microcephaly, and Severe Dermatitis) AnnotationAssertion( "MIM:610483"^^xsd:string) AnnotationAssertion( "MESH:C538055"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008033"^^xsd:string) AnnotationAssertion(rdfs:label "Agammaglobulinemia, Microcephaly, and Severe Dermatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bezoars) AnnotationAssertion(Annotation( "MESH:D001630"^^xsd:string) "Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal."^^xsd:string) AnnotationAssertion( "MESH:D001630"^^xsd:string) AnnotationAssertion( "RDO:0004989"^^xsd:string) AnnotationAssertion( "Bezoar"^^xsd:string) AnnotationAssertion( "Hair Ball"^^xsd:string) AnnotationAssertion( "Hair Balls"^^xsd:string) AnnotationAssertion( "Trichobezoar"^^xsd:string) AnnotationAssertion( "Trichobezoars"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008034"^^xsd:string) AnnotationAssertion(rdfs:label "Bezoars"^^xsd:string) SubClassOf( ) # Class: (Cataract, Autosomal Dominant Nuclear) AnnotationAssertion( "MESH:C565137"^^xsd:string) AnnotationAssertion( "RDO:0013864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008035"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Autosomal Dominant Nuclear"^^xsd:string) SubClassOf( ) # Class: (Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps) AnnotationAssertion( "MIM:155145"^^xsd:string) AnnotationAssertion( "MESH:C536135"^^xsd:string) AnnotationAssertion( "Pai Levkoff syndrome"^^xsd:string) AnnotationAssertion( "Pai syndrome"^^xsd:string) AnnotationAssertion( "median cleft of upper lip with polyps of facial skin and nasal mucosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008036"^^xsd:string) AnnotationAssertion(rdfs:label "Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paragangliomas 4) AnnotationAssertion( "MIM:115310"^^xsd:string) AnnotationAssertion( "PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL"^^xsd:string) AnnotationAssertion( "PGL4"^^xsd:string) AnnotationAssertion( "PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA"^^xsd:string) AnnotationAssertion( "PPGL4"^^xsd:string) AnnotationAssertion( "carotid body tumors and multiple extraadrenal pheochromocytomas"^^xsd:string) AnnotationAssertion( "familial extraadrenal pheochromocytoma"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008037"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 4"^^xsd:string) SubClassOf( ) # Class: (Digestive System Fistula) AnnotationAssertion(Annotation( "MESH:D016154"^^xsd:string) "An abnormal passage communicating between any components of the digestive system, or between any part of the digestive system and surrounding organ(s)."^^xsd:string) AnnotationAssertion( "MESH:D016154"^^xsd:string) AnnotationAssertion( "RDO:0005000"^^xsd:string) AnnotationAssertion( "Digestive System Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008038"^^xsd:string) AnnotationAssertion(rdfs:label "Digestive System Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebrospinal Fluid Rhinorrhea) AnnotationAssertion(Annotation( "MESH:D002559"^^xsd:string) "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)"^^xsd:string) AnnotationAssertion( "MESH:D002559"^^xsd:string) AnnotationAssertion( "RDO:0003871"^^xsd:string) AnnotationAssertion( "CSF Rhinorrhea"^^xsd:string) AnnotationAssertion( "CSF Rhinorrheas"^^xsd:string) AnnotationAssertion( "Cerebrospinal Fluid Rhinorrheas"^^xsd:string) AnnotationAssertion( "Cerebrospinal Rhinorrhea"^^xsd:string) AnnotationAssertion( "Cerebrospinal Rhinorrheas"^^xsd:string) AnnotationAssertion( "Post Traumatic Cerebrospinal Fluid Rhinorrhea"^^xsd:string) AnnotationAssertion( "Spontaneous Cerebrospinal Fluid Rhinorrhea"^^xsd:string) AnnotationAssertion( "Traumatic Cerebrospinal Fluid Rhinorrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008039"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrospinal Fluid Rhinorrhea"^^xsd:string) SubClassOf( ) # Class: (Kallmann Syndrome 2 with Bimanual Synkinesia) AnnotationAssertion( "MESH:C563652"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008040"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann Syndrome 2 with Bimanual Synkinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ovarian Gynandroblastoma) AnnotationAssertion( "EFO:1000422"^^xsd:string) AnnotationAssertion( "MESH:C538459"^^xsd:string) AnnotationAssertion( "RDO:0004422"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008041"^^xsd:string) AnnotationAssertion(rdfs:label "Ovarian Gynandroblastoma"^^xsd:string) SubClassOf( ) # Class: (Minimal Pigment Type Albinism) AnnotationAssertion( "MESH:C537044"^^xsd:string) AnnotationAssertion( "Oculocutaneous albinism, minimal pigment type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008042"^^xsd:string) AnnotationAssertion(rdfs:label "Minimal Pigment Type Albinism"^^xsd:string) SubClassOf( ) # Class: (Chromosome 15 Ring) AnnotationAssertion( "MESH:C538035"^^xsd:string) AnnotationAssertion( "Ring 15, Chromosome (mosaic pattern)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008043"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15 Ring"^^xsd:string) SubClassOf( ) # Class: (Generalized Elastolysis) AnnotationAssertion( "MESH:C531660"^^xsd:string) AnnotationAssertion( "RDO:0000087"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008044"^^xsd:string) AnnotationAssertion(rdfs:label "Generalized Elastolysis"^^xsd:string) SubClassOf( ) # Class: (Pachyonychia Congenita Recessive) AnnotationAssertion( "MIM:260130"^^xsd:string) AnnotationAssertion( "RDO:0004029"^^xsd:string) AnnotationAssertion( "MESH:C538094"^^xsd:string) AnnotationAssertion( "Autosomal recessive pachyonychia congenita"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008045"^^xsd:string) AnnotationAssertion(rdfs:label "Pachyonychia Congenita Recessive"^^xsd:string) SubClassOf( ) # Class: (Neoplasms, Hormone-Dependent) AnnotationAssertion(Annotation( "MESH:D009376"^^xsd:string) "Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment."^^xsd:string) AnnotationAssertion( "MESH:D009376"^^xsd:string) AnnotationAssertion( "RDO:0006197"^^xsd:string) AnnotationAssertion( "Hormone-Dependent Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008046"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasms, Hormone-Dependent"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Faye-Petersen Ward Carey Syndrome) AnnotationAssertion( "MESH:C537076"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008048"^^xsd:string) AnnotationAssertion(rdfs:label "Faye-Petersen Ward Carey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Corneal Dystrophy, Fuchs Endothelial, 3) AnnotationAssertion( "MIM:613267"^^xsd:string) AnnotationAssertion( "MESH:C567678"^^xsd:string) AnnotationAssertion( "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET"^^xsd:string) AnnotationAssertion( "FCD2 LOCUS"^^xsd:string) AnnotationAssertion( "FECD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008049"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Dystrophy, Fuchs Endothelial, 3"^^xsd:string) SubClassOf( ) # Class: (Familial Primary Biliary Cirrhosis) AnnotationAssertion( "MESH:C538544"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008050"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Primary Biliary Cirrhosis"^^xsd:string) SubClassOf( ) # Class: (Luscan-Lumish Syndrome) AnnotationAssertion( "MIM:616831"^^xsd:string) AnnotationAssertion( "LLS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008051"^^xsd:string) AnnotationAssertion(rdfs:label "Luscan-Lumish Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Permanent Neonatal Diabetes Mellitus, with Neurologic Features) AnnotationAssertion( "MESH:C563424"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008052"^^xsd:string) AnnotationAssertion(rdfs:label "Permanent Neonatal Diabetes Mellitus, with Neurologic Features"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Embryonal Rhabdomyosarcoma 2) AnnotationAssertion( "MIM:180295"^^xsd:string) AnnotationAssertion( "MESH:C566709"^^xsd:string) AnnotationAssertion( "RMSE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008053"^^xsd:string) AnnotationAssertion(rdfs:label "Embryonal Rhabdomyosarcoma 2"^^xsd:string) SubClassOf( ) # Class: (JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA) AnnotationAssertion(Annotation( "MIM:620232"^^xsd:string) "This disease is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-04-28T14:41:21Z"^^xsd:string) AnnotationAssertion( "MIM:620232"^^xsd:string) AnnotationAssertion( "JCOSL"^^xsd:string) AnnotationAssertion( "NFAT1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008054"^^xsd:string) AnnotationAssertion(rdfs:label "JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dental Fistula) AnnotationAssertion(Annotation( "MESH:D003751"^^xsd:string) "An abnormal passage in the oral cavity on the gingiva."^^xsd:string) AnnotationAssertion( "MESH:D003751"^^xsd:string) AnnotationAssertion( "Dental Fistulas"^^xsd:string) AnnotationAssertion( "Gingival Fistula"^^xsd:string) AnnotationAssertion( "Gingival Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008055"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Fistula"^^xsd:string) SubClassOf( ) # Class: (Acantholysis) AnnotationAssertion(Annotation( "MESH:D000051"^^xsd:string) "Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE."^^xsd:string) AnnotationAssertion( "MESH:D000051"^^xsd:string) AnnotationAssertion( "Acantholyses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008056"^^xsd:string) AnnotationAssertion(rdfs:label "Acantholysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dystonia Musculorum Deformans) AnnotationAssertion(Annotation( "MESH:D004422"^^xsd:string) "A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)"^^xsd:string) AnnotationAssertion( "MESH:D004422"^^xsd:string) AnnotationAssertion( "Dystonias, Torsion"^^xsd:string) AnnotationAssertion( "Idiopathic Torsion Dystonia"^^xsd:string) AnnotationAssertion( "Oppenheim Ziehen Disease"^^xsd:string) AnnotationAssertion( "childhood torsion disease"^^xsd:string) AnnotationAssertion( "dystonia deformans progressiva"^^xsd:string) AnnotationAssertion( "idiopathic torsion dystonias"^^xsd:string) AnnotationAssertion( "progressive torsion spasm"^^xsd:string) AnnotationAssertion( "torsion disease of childhood"^^xsd:string) AnnotationAssertion( "torsion dystonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008057"^^xsd:string) AnnotationAssertion(rdfs:label "Dystonia Musculorum Deformans"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neuroblastic Tumor) AnnotationAssertion(Annotation( "NCI:C6963"^^xsd:string) "This neoplasm is part of a group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-05T12:31:49Z"^^xsd:string) AnnotationAssertion( "EFO:1000393"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008058"^^xsd:string) AnnotationAssertion(rdfs:label "Neuroblastic Tumor"^^xsd:string) SubClassOf( ) # Class: (Radiation Induced Angiosarcoma of the Breast) AnnotationAssertion( "MESH:C536264"^^xsd:string) AnnotationAssertion( "RDO:0001773"^^xsd:string) AnnotationAssertion( "Post-irradiation angiosarcoma of the breast"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008059"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Induced Angiosarcoma of the Breast"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ulnar/Fibular Ray Defect and Brachydactyly) AnnotationAssertion( "MIM:608571"^^xsd:string) AnnotationAssertion( "MESH:C563905"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008060"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar/Fibular Ray Defect and Brachydactyly"^^xsd:string) SubClassOf( ) # Class: (Ciliary Dyskinesia with Transposition of Ciliary Microtubules) AnnotationAssertion( "MIM:215520"^^xsd:string) AnnotationAssertion( "MESH:C567137"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008061"^^xsd:string) AnnotationAssertion(rdfs:label "Ciliary Dyskinesia with Transposition of Ciliary Microtubules"^^xsd:string) SubClassOf( ) # Class: (Hypogonadism with Low-Grade Mental Deficiency and Microcephaly) AnnotationAssertion( "MIM:241000"^^xsd:string) AnnotationAssertion( "MESH:C565482"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008062"^^xsd:string) AnnotationAssertion(rdfs:label "Hypogonadism with Low-Grade Mental Deficiency and Microcephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 5, Trisomy 5q) AnnotationAssertion( "MESH:C537650"^^xsd:string) AnnotationAssertion( "RDO:0003527"^^xsd:string) AnnotationAssertion( "5Q35 MICRODUPLICATION SYNDROME"^^xsd:string) AnnotationAssertion( "Duplication 5q"^^xsd:string) AnnotationAssertion( "Trisomy 5q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008063"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 5, Trisomy 5q"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Littoral Cell Angioma of the Spleen) AnnotationAssertion( "MESH:C537031"^^xsd:string) AnnotationAssertion( "RDO:0002786"^^xsd:string) AnnotationAssertion( "Littoral cell angioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008064"^^xsd:string) AnnotationAssertion(rdfs:label "Littoral Cell Angioma of the Spleen"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adenoameloblastoma) AnnotationAssertion( "EFO:1000072"^^xsd:string) AnnotationAssertion( "MESH:C538229"^^xsd:string) AnnotationAssertion( "adenomatoid ameloblastoma"^^xsd:string) AnnotationAssertion( "adenomatoid odontogenic tumor"^^xsd:string) AnnotationAssertion( "pleomorphic adenomatoid tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008065"^^xsd:string) AnnotationAssertion(rdfs:label "Adenoameloblastoma"^^xsd:string) SubClassOf( ) # Class: (Posterior Choanal Atresia) AnnotationAssertion( "MIM:608911"^^xsd:string) AnnotationAssertion( "MESH:C562435"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008066"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Choanal Atresia"^^xsd:string) SubClassOf( ) # Class: (Toxemia) AnnotationAssertion(Annotation( "MESH:D014115"^^xsd:string) "A condition produced by the presence of toxins or other harmful substances in the BLOOD."^^xsd:string) AnnotationAssertion( "MESH:D014115"^^xsd:string) AnnotationAssertion( "RDO:0006726"^^xsd:string) AnnotationAssertion( "Toxemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008067"^^xsd:string) AnnotationAssertion(rdfs:label "Toxemia"^^xsd:string) SubClassOf( ) # Class: (Hyperbiliverdinemia) AnnotationAssertion( "MIM:614156"^^xsd:string) AnnotationAssertion( "GREEN JAUNDICE"^^xsd:string) AnnotationAssertion( "HBLVD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008068"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperbiliverdinemia"^^xsd:string) SubClassOf( ) # Class: (Ben Ari Shuper Mimouni Syndrome) AnnotationAssertion( "MESH:C535427"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008069"^^xsd:string) AnnotationAssertion(rdfs:label "Ben Ari Shuper Mimouni Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Short-Rib Thoracic Dysplasia 21 without Polydactyly) AnnotationAssertion( "Characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Caused by homozygous or compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-08-25T09:45:07Z"^^xsd:string) AnnotationAssertion( "MIM:619479"^^xsd:string) AnnotationAssertion( "SRTD21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008070"^^xsd:string) AnnotationAssertion(rdfs:label "Short-Rib Thoracic Dysplasia 21 without Polydactyly"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cystic Adenomatoid Malformation of Lung, Congenital) AnnotationAssertion(Annotation( "MESH:D015615"^^xsd:string) "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal BRONCHIOLES with a consequent reduction of PULMONARY ALVEOLI. This anomaly is classified into three types by the cyst size."^^xsd:string) AnnotationAssertion( "MESH:D015615"^^xsd:string) AnnotationAssertion( "RDO:0006908"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type 1"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type 2"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type 3"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type I"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type II"^^xsd:string) AnnotationAssertion( "Congenital Cystic Adenomatoid Malformation, Type III"^^xsd:string) AnnotationAssertion( "Cystic Adenomatoid Malformation of Lung"^^xsd:string) AnnotationAssertion( "Lung Malformation, Congenital Cystic Adenomatoid"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008072"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic Adenomatoid Malformation of Lung, Congenital"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (PORETTI-BOLTSHAUSER SYNDROME) AnnotationAssertion( "An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615960"^^xsd:string) AnnotationAssertion( "RDO:9001523"^^xsd:string) AnnotationAssertion( "LAMA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PTBHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008073"^^xsd:string) AnnotationAssertion(rdfs:label "PORETTI-BOLTSHAUSER SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Encephalopathy, Spastic Tetraparesis, and Hypogonadism) AnnotationAssertion( "MESH:C565722"^^xsd:string) AnnotationAssertion( "RDO:0014281"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008075"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalopathy, Spastic Tetraparesis, and Hypogonadism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (clavicle fractures) AnnotationAssertion(Annotation( "NCI:C26987"^^xsd:string) "This is a traumatic or pathologic injury to the clavicle in which the continuity of the clavicle is broken."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-20T17:59:32Z"^^xsd:string) AnnotationAssertion( "EFO:0009614"^^xsd:string) AnnotationAssertion( "clavicle fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008076"^^xsd:string) AnnotationAssertion(rdfs:label "clavicle fractures"^^xsd:string) SubClassOf( ) # Class: (Aase Smith Syndrome) AnnotationAssertion( "MIM:147800"^^xsd:string) AnnotationAssertion( "MESH:C535332"^^xsd:string) AnnotationAssertion( "Aase-Smith Syndrome I"^^xsd:string) AnnotationAssertion( "Hydrocephalus cleft palate joint contractures"^^xsd:string) AnnotationAssertion( "Joint contractures with other abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008077"^^xsd:string) AnnotationAssertion(rdfs:label "Aase Smith Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cavernous Malformations of CNS and Retina) AnnotationAssertion( "MESH:C566152"^^xsd:string) AnnotationAssertion( "RDO:0014593"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008078"^^xsd:string) AnnotationAssertion(rdfs:label "Cavernous Malformations of CNS and Retina"^^xsd:string) SubClassOf( ) # Class: (Neurasthenia) AnnotationAssertion(Annotation( "MESH:D009440"^^xsd:string) "A mental disorder characterized by chronic fatigue and concomitant physiologic symptoms."^^xsd:string) AnnotationAssertion( "MESH:D009440"^^xsd:string) AnnotationAssertion( "RDO:0006202"^^xsd:string) AnnotationAssertion( "Neurasthenic Neuroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008079"^^xsd:string) AnnotationAssertion(rdfs:label "Neurasthenia"^^xsd:string) SubClassOf( ) # Class: (Hemic and Lymphatic Diseases) AnnotationAssertion(Annotation( "MESH:D006425"^^xsd:string) "Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes."^^xsd:string) AnnotationAssertion( "MESH:D006425"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008080"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Hemic and Lymphatic Diseases"^^xsd:string) SubClassOf( ) # Class: (Acute Brachial Neuritis) AnnotationAssertion( "RDO:0004547"^^xsd:string) AnnotationAssertion( "MESH:C538620"^^xsd:string) AnnotationAssertion( "acute brachial neuritis syndrome"^^xsd:string) AnnotationAssertion( "acute brachial radiculitis syndrome"^^xsd:string) AnnotationAssertion( "acute shoulder neuritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008081"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Brachial Neuritis"^^xsd:string) SubClassOf( ) # Class: (Plagiocephaly, Nonsynostotic) AnnotationAssertion(Annotation( "MESH:D049068"^^xsd:string) "A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME."^^xsd:string) AnnotationAssertion( "MESH:D049068"^^xsd:string) AnnotationAssertion( "RDO:0007553"^^xsd:string) AnnotationAssertion( "Deformational Plagiocephalies"^^xsd:string) AnnotationAssertion( "Deformational Plagiocephaly"^^xsd:string) AnnotationAssertion( "Positional Plagiocephalies"^^xsd:string) AnnotationAssertion( "Positional Plagiocephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008082"^^xsd:string) AnnotationAssertion(rdfs:label "Plagiocephaly, Nonsynostotic"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Metaphyseal Chondrodysplasia, Pena Type) AnnotationAssertion( "MIM:250300"^^xsd:string) AnnotationAssertion( "MESH:C565399"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008084"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Chondrodysplasia, Pena Type"^^xsd:string) SubClassOf( ) # Class: (Cataracts, Ataxia, Short Stature, and Mental Retardation) AnnotationAssertion( "MIM:300619"^^xsd:string) AnnotationAssertion( "MESH:C535345"^^xsd:string) AnnotationAssertion( "CASM syndrome"^^xsd:string) AnnotationAssertion( "CATARACT, ATAXIA, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) AnnotationAssertion( "cataract, ataxia, short stature, and mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008085"^^xsd:string) AnnotationAssertion(rdfs:label "Cataracts, Ataxia, Short Stature, and Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Developmental Disabilities) AnnotationAssertion(Annotation( "MESH:D002658"^^xsd:string) "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)"^^xsd:string) AnnotationAssertion( "EFO:0003852"^^xsd:string) AnnotationAssertion( "MESH:D002658"^^xsd:string) AnnotationAssertion( "NCI:C116942"^^xsd:string) AnnotationAssertion( "RDO:0000673"^^xsd:string) AnnotationAssertion( "Child Development Deviation"^^xsd:string) AnnotationAssertion( "Child Development Deviations"^^xsd:string) AnnotationAssertion( "Child Development Disorder"^^xsd:string) AnnotationAssertion( "Child Development Disorders"^^xsd:string) AnnotationAssertion( "Child Development Disorders, Specific"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY"^^xsd:string) AnnotationAssertion( "Developmental Delay Disorder"^^xsd:string) AnnotationAssertion( "Developmental Delay Disorders"^^xsd:string) AnnotationAssertion( "Developmental Disability"^^xsd:string) AnnotationAssertion( "Global developmental delay"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008086"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Disabilities"^^xsd:string) SubClassOf( ) # Class: (Chromosome 18 Pericentric Inversion) AnnotationAssertion( "MIM:609334"^^xsd:string) AnnotationAssertion( "MESH:C563734"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008087"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 18 Pericentric Inversion"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Neonatal Inflammatory Skin and Bowel Disease) AnnotationAssertion( "NISBD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008088"^^xsd:string) AnnotationAssertion(rdfs:label "Neonatal Inflammatory Skin and Bowel Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chlamydiaceae Infections) AnnotationAssertion(Annotation( "MESH:D002694"^^xsd:string) "Infections with bacteria of the family CHLAMYDIACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001288"^^xsd:string) AnnotationAssertion( "MESH:D002694"^^xsd:string) AnnotationAssertion( "Chlamydiaceae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008090"^^xsd:string) AnnotationAssertion(rdfs:label "Chlamydiaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Optic Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D020221"^^xsd:string) "Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect."^^xsd:string) AnnotationAssertion( "MESH:D020221"^^xsd:string) AnnotationAssertion( "RDO:0007358"^^xsd:string) AnnotationAssertion( "Cranial Nerve II Injuries"^^xsd:string) AnnotationAssertion( "Optic Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Optic Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Optic Nerve Contusion"^^xsd:string) AnnotationAssertion( "Optic Nerve Contusions"^^xsd:string) AnnotationAssertion( "Optic Nerve Injury"^^xsd:string) AnnotationAssertion( "Optic Nerve Transection"^^xsd:string) AnnotationAssertion( "Optic Nerve Transections"^^xsd:string) AnnotationAssertion( "Optic Nerve Trauma"^^xsd:string) AnnotationAssertion( "Optic Nerve Traumas"^^xsd:string) AnnotationAssertion( "Second Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Second Cranial Nerve Trauma"^^xsd:string) AnnotationAssertion( "TON"^^xsd:string) AnnotationAssertion( "Traumatic Optic Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Optic Neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008091"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Visceral Prolapse) AnnotationAssertion(Annotation( "MESH:D014782"^^xsd:string) "The prolapse or downward displacement of the VISCERA."^^xsd:string) AnnotationAssertion( "MESH:D014782"^^xsd:string) AnnotationAssertion( "Splanchnoptosis"^^xsd:string) AnnotationAssertion( "Visceroptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008092"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 81) AnnotationAssertion( "An autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. Caused by homozygous mutation in the SLP76 gene (LCP2) on chromosome 5q33. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-06-23T11:18:27Z"^^xsd:string) AnnotationAssertion( "MIM:619374"^^xsd:string) AnnotationAssertion( "IMD81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008093"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 81"^^xsd:string) SubClassOf( ) # Class: (Multifocal Fibrosclerosis) AnnotationAssertion( "MIM:228800"^^xsd:string) AnnotationAssertion( "MESH:C537375"^^xsd:string) AnnotationAssertion( "Mediastinal fibrosis, familial"^^xsd:string) AnnotationAssertion( "Retroperitoneal fibrosis, familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008094"^^xsd:string) AnnotationAssertion(rdfs:label "Multifocal Fibrosclerosis"^^xsd:string) SubClassOf( ) # Class: (Hereditary Central Nervous System Demyelinating Diseases) AnnotationAssertion(Annotation( "MESH:D020279"^^xsd:string) "Inherited conditions characterized by a loss of MYELIN in the central nervous system."^^xsd:string) AnnotationAssertion( "OMIA:001130"^^xsd:string) AnnotationAssertion( "MESH:D020279"^^xsd:string) AnnotationAssertion( "leucodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008095"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Central Nervous System Demyelinating Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS) AnnotationAssertion(Annotation( "MIM:301072"^^xsd:string) "This disease is an X-liked recessive disorder characterized by global developmental delay, early-onset seizures, and progressive systemic iron deposition particularly affecting the liver and resulting in juvenile-onset hemochromatosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-06-30T10:10:32Z"^^xsd:string) AnnotationAssertion( "MIM:301072"^^xsd:string) AnnotationAssertion( "FCCS"^^xsd:string) AnnotationAssertion( "FERRO-CEREBRO-CUTANEOUS SYNDROME"^^xsd:string) AnnotationAssertion( "NEDEPH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008096"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Whistling Face Syndrome, Recessive Form) AnnotationAssertion( "MESH:C536699"^^xsd:string) AnnotationAssertion( "RDO:0002355"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008097"^^xsd:string) AnnotationAssertion(rdfs:label "Whistling Face Syndrome, Recessive Form"^^xsd:string) SubClassOf( ) # Class: (Hantavirosis) AnnotationAssertion( "MESH:C535630"^^xsd:string) AnnotationAssertion( "Hantavirus fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008098"^^xsd:string) AnnotationAssertion(rdfs:label "Hantavirosis"^^xsd:string) SubClassOf( ) # Class: (Granulosis Rubra Nasi) AnnotationAssertion( "MIM:139000"^^xsd:string) AnnotationAssertion( "MESH:C562483"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008099"^^xsd:string) AnnotationAssertion(rdfs:label "Granulosis Rubra Nasi"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Flynn Aird Syndrome) AnnotationAssertion( "A rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. [Wikipedia]"^^xsd:string) AnnotationAssertion( "MIM:136300"^^xsd:string) AnnotationAssertion( "MESH:C537066"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008101"^^xsd:string) AnnotationAssertion(rdfs:label "Flynn Aird Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (FACES Syndrome) AnnotationAssertion( "MESH:C536384"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008102"^^xsd:string) AnnotationAssertion(rdfs:label "FACES Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Seasonal Allergic Rhinitis) AnnotationAssertion(Annotation( "MESH:D006255"^^xsd:string) "Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS."^^xsd:string) AnnotationAssertion( "EFO:0003956"^^xsd:string) AnnotationAssertion( "MESH:D006255"^^xsd:string) AnnotationAssertion( "hay fever"^^xsd:string) AnnotationAssertion( "hayfever"^^xsd:string) AnnotationAssertion( "pollinoses"^^xsd:string) AnnotationAssertion( "pollinosis"^^xsd:string) AnnotationAssertion( "seasonal allergic rhinitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008103"^^xsd:string) AnnotationAssertion(rdfs:label "Seasonal Allergic Rhinitis"^^xsd:string) SubClassOf( ) # Class: (Cancer Pain) AnnotationAssertion(Annotation( "MESH:D000072716"^^xsd:string) "Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS."^^xsd:string) AnnotationAssertion( "MESH:D000072716"^^xsd:string) AnnotationAssertion( "Cancer Associated Pain"^^xsd:string) AnnotationAssertion( "Cancer Pains"^^xsd:string) AnnotationAssertion( "Cancer Related Pain"^^xsd:string) AnnotationAssertion( "Cancer-Associated Pains"^^xsd:string) AnnotationAssertion( "Cancer-Related Pains"^^xsd:string) AnnotationAssertion( "Neoplasm Associated Pain"^^xsd:string) AnnotationAssertion( "Neoplasm Related Pain"^^xsd:string) AnnotationAssertion( "Neoplasm-Associated Pains"^^xsd:string) AnnotationAssertion( "Neoplasm-Related Pains"^^xsd:string) AnnotationAssertion( "Oncological Pain"^^xsd:string) AnnotationAssertion( "Oncological Pains"^^xsd:string) AnnotationAssertion( "Oncology Pain"^^xsd:string) AnnotationAssertion( "Oncology Pains"^^xsd:string) AnnotationAssertion( "Tumor Associated Pain"^^xsd:string) AnnotationAssertion( "Tumor Related Pain"^^xsd:string) AnnotationAssertion( "Tumor-Associated Pains"^^xsd:string) AnnotationAssertion( "Tumor-Related Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008104"^^xsd:string) AnnotationAssertion(rdfs:label "Cancer Pain"^^xsd:string) SubClassOf( ) # Class: (Cystic, Mucinous, and Serous Neoplasms) AnnotationAssertion(Annotation( "MESH:D018297"^^xsd:string) "Neoplasms containing cyst-like formations or producing mucin or serum."^^xsd:string) AnnotationAssertion( "EFO:1000448"^^xsd:string) AnnotationAssertion( "EFO:1000889"^^xsd:string) AnnotationAssertion( "MESH:D018297"^^xsd:string) AnnotationAssertion( "Papillary Cystic Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008105"^^xsd:string) AnnotationAssertion(rdfs:label "Cystic, Mucinous, and Serous Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Vaccine-Preventable Diseases) AnnotationAssertion(Annotation( "MESH:D000079263"^^xsd:string) "Diseases for which vaccines exist that can confer partial or complete protection."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T14:40:43Z"^^xsd:string) AnnotationAssertion( "MESH:D000079263"^^xsd:string) AnnotationAssertion( "Vaccine Preventable Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008106"^^xsd:string) AnnotationAssertion(rdfs:label "Vaccine-Preventable Diseases"^^xsd:string) SubClassOf( ) # Class: (Microcephaly with Mental Retardation and Digital Anomalies) AnnotationAssertion( "MIM:251255"^^xsd:string) AnnotationAssertion( "RBBP8-related disorder"^^xsd:string) AnnotationAssertion( "RBBP8-related disorders"^^xsd:string) AnnotationAssertion( "MESH:C567101"^^xsd:string) AnnotationAssertion( "JWDS"^^xsd:string) AnnotationAssertion( "Jawad syndrome"^^xsd:string) AnnotationAssertion( "Kelly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008107"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly with Mental Retardation and Digital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mallory-Weiss Syndrome) AnnotationAssertion(Annotation( "MESH:D008309"^^xsd:string) "A condition characterized by mucosal tears at the ESOPHAGOGASTRIC JUNCTION, sometimes with HEMATEMESIS. Typically it is caused by forceful bouts of retching or VOMITING."^^xsd:string) AnnotationAssertion( "MESH:D008309"^^xsd:string) AnnotationAssertion( "RDO:0006054"^^xsd:string) AnnotationAssertion( "Gastroesophageal Laceration Hemorrhage"^^xsd:string) AnnotationAssertion( "Gastroesophageal Laceration-Hemorrhages"^^xsd:string) AnnotationAssertion( "Mallory Weiss Laceration"^^xsd:string) AnnotationAssertion( "Mallory Weiss Tear"^^xsd:string) AnnotationAssertion( "Mucosal Lacerations Gastroesophageal Junction"^^xsd:string) AnnotationAssertion( "Mucosal Lacerations-Gastroesophageal Junctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008108"^^xsd:string) AnnotationAssertion(rdfs:label "Mallory-Weiss Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sebocystomatosis) AnnotationAssertion( "MESH:C580471"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008109"^^xsd:string) AnnotationAssertion(rdfs:label "Sebocystomatosis"^^xsd:string) SubClassOf( ) # Class: (Blister) AnnotationAssertion(Annotation( "MESH:D001768"^^xsd:string) "Visible accumulations of fluid within or beneath the epidermis."^^xsd:string) AnnotationAssertion( "MESH:D001768"^^xsd:string) AnnotationAssertion( "Bleb"^^xsd:string) AnnotationAssertion( "Blebs"^^xsd:string) AnnotationAssertion( "Blisters"^^xsd:string) AnnotationAssertion( "Bulla"^^xsd:string) AnnotationAssertion( "Bullae"^^xsd:string) AnnotationAssertion( "Bullous Lesion"^^xsd:string) AnnotationAssertion( "Bullous Lesions"^^xsd:string) AnnotationAssertion( "Vesication"^^xsd:string) AnnotationAssertion( "Vesications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008110"^^xsd:string) AnnotationAssertion(rdfs:label "Blister"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Metatropic Dwarfism, Type II) AnnotationAssertion( "MESH:C581628"^^xsd:string) AnnotationAssertion( "RDO:0015940"^^xsd:string) AnnotationAssertion( "Metatropic Dysplasia Type II"^^xsd:string) AnnotationAssertion( "Metatropic dwarfism, type 2"^^xsd:string) AnnotationAssertion( "Metatropic dysplasia 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008111"^^xsd:string) AnnotationAssertion(rdfs:label "Metatropic Dwarfism, Type II"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ventricular Fibrillation, Paroxysmal Familial, 1) AnnotationAssertion( "MIM:603829"^^xsd:string) AnnotationAssertion( "MESH:C567851"^^xsd:string) AnnotationAssertion( "RDO:0012065"^^xsd:string) AnnotationAssertion( "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, TYPE 1"^^xsd:string) AnnotationAssertion( "VF1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "VF1 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY"^^xsd:string) AnnotationAssertion( "DOID:9008112"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Fibrillation, Paroxysmal Familial, 1"^^xsd:string) SubClassOf( ) # Class: (Tissue Adhesions) AnnotationAssertion(Annotation( "MESH:D000267"^^xsd:string) "Pathological processes consisting of the union of the opposing surfaces of a wound."^^xsd:string) AnnotationAssertion( "MESH:D000267"^^xsd:string) AnnotationAssertion( "Surgery-Induced Tissue Adhesion"^^xsd:string) AnnotationAssertion( "Surgical Adhesion"^^xsd:string) AnnotationAssertion( "Surgical Adhesions"^^xsd:string) AnnotationAssertion( "surgery induced tissue adhesions"^^xsd:string) AnnotationAssertion( "tissue adhesion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008113"^^xsd:string) AnnotationAssertion(rdfs:label "Tissue Adhesions"^^xsd:string) SubClassOf( ) # Class: (Helicobacter Infections) AnnotationAssertion(Annotation( "MESH:D016481"^^xsd:string) "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease."^^xsd:string) AnnotationAssertion( "MIM:600263"^^xsd:string) AnnotationAssertion( "EFO:1000961"^^xsd:string) AnnotationAssertion( "MESH:D016481"^^xsd:string) AnnotationAssertion( "Helicobacter Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9008114"^^xsd:string) AnnotationAssertion(rdfs:label "Helicobacter Infections"^^xsd:string) SubClassOf( ) # Class: (Abdominal Abscess) AnnotationAssertion(Annotation( "MESH:D018784"^^xsd:string) "An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001753"^^xsd:string) AnnotationAssertion( "MESH:D018784"^^xsd:string) AnnotationAssertion( "Abdominal Abscesses"^^xsd:string) AnnotationAssertion( "Intra-Abdominal Abscess"^^xsd:string) AnnotationAssertion( "Intra-Abdominal Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008115"^^xsd:string) AnnotationAssertion(rdfs:label "Abdominal Abscess"^^xsd:string) SubClassOf( ) # Class: (Microcephaly Nonsyndromal) AnnotationAssertion( "MESH:C537542"^^xsd:string) AnnotationAssertion( "RDO:0003401"^^xsd:string) AnnotationAssertion( "Nonsyndromic microcephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008116"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Nonsyndromal"^^xsd:string) SubClassOf( ) # Class: (Central Auditory Diseases) AnnotationAssertion(Annotation( "MESH:D001304"^^xsd:string) "Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS."^^xsd:string) AnnotationAssertion( "RDO:0004945"^^xsd:string) AnnotationAssertion( "MESH:D001304"^^xsd:string) AnnotationAssertion( "Auditory Cortex Disorders"^^xsd:string) AnnotationAssertion( "Central Auditory Disease"^^xsd:string) AnnotationAssertion( "Central Auditory Dysfunction"^^xsd:string) AnnotationAssertion( "Central Auditory Pathway Disorders"^^xsd:string) AnnotationAssertion( "auditory cortex disorder"^^xsd:string) AnnotationAssertion( "central auditory dysfunctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008117"^^xsd:string) AnnotationAssertion(rdfs:label "Central Auditory Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neuraminidase Deficiency) AnnotationAssertion( "MIM:256550"^^xsd:string) AnnotationAssertion( "MESH:C537366"^^xsd:string) AnnotationAssertion( "MONDO:0017734"^^xsd:string) AnnotationAssertion( "NCI:C125596"^^xsd:string) AnnotationAssertion( "ORDO:309294"^^xsd:string) AnnotationAssertion( "ML I"^^xsd:string) AnnotationAssertion( "Mucolipidosis type 1"^^xsd:string) AnnotationAssertion( "Neu Deficiency"^^xsd:string) AnnotationAssertion( "Neu1 Deficiency"^^xsd:string) AnnotationAssertion( "Neug Deficiency"^^xsd:string) AnnotationAssertion( "Sialidase deficiency"^^xsd:string) AnnotationAssertion( "Sialidoses, type 2"^^xsd:string) AnnotationAssertion( "Sialidosis, Type I"^^xsd:string) AnnotationAssertion( "glycoprotein neuraminidase deficiency"^^xsd:string) AnnotationAssertion( "lipomucopolysaccharidosis"^^xsd:string) AnnotationAssertion( "mucolipidoses type I"^^xsd:string) AnnotationAssertion( "mucolipidosis I"^^xsd:string) AnnotationAssertion( "mucolipidosis type I"^^xsd:string) AnnotationAssertion( "neuraminidase 1 deficiency"^^xsd:string) AnnotationAssertion( "sialidosis, type II"^^xsd:string) AnnotationAssertion( "CHERRY RED SPOT--MYOCLONUS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008118"^^xsd:string) AnnotationAssertion(rdfs:label "Neuraminidase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Vertebral, Cardiac, Renal, and Limb Defects Syndromes) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-07T11:16:20Z"^^xsd:string) AnnotationAssertion( "MIM:PS617660"^^xsd:string) AnnotationAssertion( "vertebral, cardiac, renal, and limb defects syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008119"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral, Cardiac, Renal, and Limb Defects Syndromes"^^xsd:string) SubClassOf( ) # Class: (Orotic Aciduria II) AnnotationAssertion( "MESH:C562589"^^xsd:string) AnnotationAssertion( "OMP Decarboxylase Deficiency"^^xsd:string) AnnotationAssertion( "Orotidylic Decarboxylase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008120"^^xsd:string) AnnotationAssertion(rdfs:label "Orotic Aciduria II"^^xsd:string) SubClassOf( ) # Class: (Lipoyltransferase 1 Deficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616299"^^xsd:string) AnnotationAssertion( "ORDO:401862"^^xsd:string) AnnotationAssertion( "LIPT1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008121"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoyltransferase 1 Deficiency"^^xsd:string) SubClassOf( ) # Class: (ISOLATED HYPERFERRITINEMIA) AnnotationAssertion(Annotation( "MIM:620729"^^xsd:string) "This disease is an autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-23T13:54:40Z"^^xsd:string) AnnotationAssertion( "HYPERFERRITINEMIA"^^xsd:string) AnnotationAssertion( "MIM:620729"^^xsd:string) AnnotationAssertion( "HRFT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008122"^^xsd:string) AnnotationAssertion(rdfs:label "ISOLATED HYPERFERRITINEMIA"^^xsd:string) SubClassOf( ) # Class: (Bleeding Disorder, Vascular-Type) AnnotationAssertion(Annotation( "MIM:620715"^^xsd:string) "An autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Caused by heterozygous mutation in the APOLD1 gene on chromosome 12p13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-19T14:38:10Z"^^xsd:string) AnnotationAssertion( "MIM:620715"^^xsd:string) AnnotationAssertion( "BDVAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008123"^^xsd:string) AnnotationAssertion(rdfs:label "Bleeding Disorder, Vascular-Type"^^xsd:string) SubClassOf( ) # Class: (Congenital Absence of Gluteal Muscles) AnnotationAssertion( "MIM:231970"^^xsd:string) AnnotationAssertion( "MESH:C535561"^^xsd:string) AnnotationAssertion( "absence of gluteal muscles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008124"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Absence of Gluteal Muscles"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cerebellar, Ocular, Craniofacial, and Genital Syndrome) AnnotationAssertion( "A disease characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-10T15:04:47Z"^^xsd:string) AnnotationAssertion( "MIM:618479"^^xsd:string) AnnotationAssertion( "COFG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008126"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar, Ocular, Craniofacial, and Genital Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM) AnnotationAssertion(Annotation( "MIM:620719"^^xsd:string) "This disease is characterized by global developmental delay, poor overall growth, severely impaired motor development with hypotonia and/or ataxia, and dysmorphic facial features. Affected individuals have impaired intellectual development, which can be severe."^^xsd:string) AnnotationAssertion( "mahimavedi"^^xsd:string) AnnotationAssertion( "2024-03-04T13:41:56Z"^^xsd:string) AnnotationAssertion( "PUM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620719"^^xsd:string) AnnotationAssertion( "NEDMSF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008128"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Manz Syndrome) AnnotationAssertion( "MESH:C535709"^^xsd:string) AnnotationAssertion( "Familial hypomagnesemia - hypercalciuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008129"^^xsd:string) AnnotationAssertion(rdfs:label "Manz Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hordnes Engebretsen Knudtson syndrome) AnnotationAssertion( "MESH:C536067"^^xsd:string) AnnotationAssertion( "RDO:0001488"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008130"^^xsd:string) AnnotationAssertion(rdfs:label "Hordnes Engebretsen Knudtson syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Parietal Foramina 2) AnnotationAssertion( "MIM:609597"^^xsd:string) AnnotationAssertion( "MESH:C566510"^^xsd:string) AnnotationAssertion( "PFM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008131"^^xsd:string) AnnotationAssertion(rdfs:label "Parietal Foramina 2"^^xsd:string) SubClassOf( ) # Class: (Brittle Bone Disorder) AnnotationAssertion( "MIM:603828"^^xsd:string) AnnotationAssertion( "MESH:C565842"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008132"^^xsd:string) AnnotationAssertion(rdfs:label "Brittle Bone Disorder"^^xsd:string) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, G) AnnotationAssertion( "MIM:609887"^^xsd:string) AnnotationAssertion( "MESH:C563692"^^xsd:string) AnnotationAssertion( "GLC1G"^^xsd:string) AnnotationAssertion( "WDR36-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008133"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, G"^^xsd:string) SubClassOf( ) # Class: (Pectoralis Muscle, Absence of) AnnotationAssertion( "MESH:C566793"^^xsd:string) AnnotationAssertion( "RDO:0015039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008134"^^xsd:string) AnnotationAssertion(rdfs:label "Pectoralis Muscle, Absence of"^^xsd:string) SubClassOf( ) # Class: (Bacterial Zoonoses) AnnotationAssertion( "Bacterial infections that may be transmitted between non-human animals and HUMANS. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T20:31:36Z"^^xsd:string) AnnotationAssertion( "MESH:D000086966"^^xsd:string) AnnotationAssertion( "Bacterial Zoonosis"^^xsd:string) AnnotationAssertion( "Bacterial Zoonotic Diseases"^^xsd:string) AnnotationAssertion( "Bacterial Zoonotic Infections"^^xsd:string) AnnotationAssertion( "Bacterial Zoonotic Spillover"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008135"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Zoonoses"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pilarowski-Bjornsson Syndrome) AnnotationAssertion( "An autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617682"^^xsd:string) AnnotationAssertion( "PILBOS"^^xsd:string) AnnotationAssertion( "developmental delay and speech apraxia with or without seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008136"^^xsd:string) AnnotationAssertion(rdfs:label "Pilarowski-Bjornsson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Apical Hypertrophic Cardiomyopathy and Neuropathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-07-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:516070"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008137"^^xsd:string) AnnotationAssertion(rdfs:label "Apical Hypertrophic Cardiomyopathy and Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ductal Carcinoma) AnnotationAssertion( "Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND."^^xsd:string) AnnotationAssertion( "MESH:D044584"^^xsd:string) AnnotationAssertion( "ductal carcinomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008138"^^xsd:string) AnnotationAssertion(rdfs:label "Ductal Carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alport Syndrome-Like Hereditary Nephritis) AnnotationAssertion( "MESH:C562890"^^xsd:string) AnnotationAssertion( "RDO:0012416"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008139"^^xsd:string) AnnotationAssertion(rdfs:label "Alport Syndrome-Like Hereditary Nephritis"^^xsd:string) SubClassOf( ) # Class: (CAHMR Syndrome) AnnotationAssertion( "MIM:211770"^^xsd:string) AnnotationAssertion( "MESH:C537959"^^xsd:string) AnnotationAssertion( "Cataract, Hypertrichosis, Mental Retardation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008140"^^xsd:string) AnnotationAssertion(rdfs:label "CAHMR Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Kallmann Syndrome 6) AnnotationAssertion( "MESH:C567199"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008142"^^xsd:string) AnnotationAssertion(rdfs:label "Kallmann Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Deal Barratt Dillon Syndrome) AnnotationAssertion( "MESH:C538206"^^xsd:string) AnnotationAssertion( "RDO:0004149"^^xsd:string) AnnotationAssertion( "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008143"^^xsd:string) AnnotationAssertion(rdfs:label "Deal Barratt Dillon Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 1, Deletion q21 q25) AnnotationAssertion( "MESH:C535363"^^xsd:string) AnnotationAssertion( "RDO:0000445"^^xsd:string) AnnotationAssertion( "Deletion 1q21 q25"^^xsd:string) AnnotationAssertion( "Monosomy 1q21 q25"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008144"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 1, Deletion q21 q25"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa 95) AnnotationAssertion(Annotation( "MIM:620102"^^xsd:string) "A disease characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Caused by homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-10-27T13:28:52Z"^^xsd:string) AnnotationAssertion( "MIM:620102"^^xsd:string) AnnotationAssertion( "RP95"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008145"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 95"^^xsd:string) SubClassOf( ) # Class: (Alopecia, Epilepsy, Pyorrhea, Mental Subnormality) AnnotationAssertion( "MIM:104130"^^xsd:string) AnnotationAssertion( "MESH:C537057"^^xsd:string) AnnotationAssertion( "Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality"^^xsd:string) AnnotationAssertion( "Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea"^^xsd:string) AnnotationAssertion( "Shokeir syndrome"^^xsd:string) AnnotationAssertion( "Adolescent alopecia, dentogingival abnormalities and intellectual disability"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008146"^^xsd:string) AnnotationAssertion(rdfs:label "Alopecia, Epilepsy, Pyorrhea, Mental Subnormality"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma) AnnotationAssertion( "CAPOK syndrome is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed. CAPOK can be caused by homozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-04-01T16:22:52Z"^^xsd:string) AnnotationAssertion( "MIM:618373"^^xsd:string) AnnotationAssertion( "CAPOK"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008147"^^xsd:string) AnnotationAssertion(rdfs:label "Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D) AnnotationAssertion(Annotation( "MIM:620780"^^xsd:string) "This is a disease characterized by facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations, including inguinal, ventral, diaphragmatic, sciatic, and obturator, as well as large diverticula of the gastrointestinal tract and urinary bladder. The skin is thin and translucent with easy bruising."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-10T17:28:14Z"^^xsd:string) AnnotationAssertion( "MIM:620780"^^xsd:string) AnnotationAssertion( "ARCL1D"^^xsd:string) AnnotationAssertion( "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID"^^xsd:string) AnnotationAssertion( "autosomal recessive cutis laxa type ID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008148"^^xsd:string) AnnotationAssertion(rdfs:label "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D"^^xsd:string) SubClassOf( ) # Class: (Conductive Deafness with Ptosis and Skeletal Anomalies) AnnotationAssertion( "MIM:221320"^^xsd:string) AnnotationAssertion( "MESH:C535993"^^xsd:string) AnnotationAssertion( "Deafness Conductive Ptosis Skeletal Anomalies"^^xsd:string) AnnotationAssertion( "Jackson Barr syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008149"^^xsd:string) AnnotationAssertion(rdfs:label "Conductive Deafness with Ptosis and Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ataxia, Deafness, and Cardiomyopathy) AnnotationAssertion( "MIM:208750"^^xsd:string) AnnotationAssertion( "MESH:C565932"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008150"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia, Deafness, and Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rectocele) AnnotationAssertion(Annotation( "MESH:D020047"^^xsd:string) "Herniation of the RECTUM into the VAGINA."^^xsd:string) AnnotationAssertion( "EFO:1001837"^^xsd:string) AnnotationAssertion( "MESH:D020047"^^xsd:string) AnnotationAssertion( "Proctocele"^^xsd:string) AnnotationAssertion( "Proctoceles"^^xsd:string) AnnotationAssertion( "Rectoceles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008151"^^xsd:string) AnnotationAssertion(rdfs:label "Rectocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Agammaglobulinemia 8) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-14T00:00:00Z"^^xsd:string) AnnotationAssertion( "AGM8"^^xsd:string) AnnotationAssertion( "TCF3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008152"^^xsd:string) AnnotationAssertion(rdfs:label "Agammaglobulinemia 8"^^xsd:string) SubClassOf( ) # Class: (XK Aprosencephaly) AnnotationAssertion( "MIM:207770"^^xsd:string) AnnotationAssertion( "MESH:C536767"^^xsd:string) AnnotationAssertion( "Aprosencephaly syndrome"^^xsd:string) AnnotationAssertion( "Aprosencephaly-atelencephaly syndrome"^^xsd:string) AnnotationAssertion( "Garcia-Lurie syndrome"^^xsd:string) AnnotationAssertion( "XK syndrome"^^xsd:string) AnnotationAssertion( "XK-aprosencephaly syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008153"^^xsd:string) AnnotationAssertion(rdfs:label "XK Aprosencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Dental Plaque) AnnotationAssertion(Annotation( "MESH:D003773"^^xsd:string) "A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms."^^xsd:string) AnnotationAssertion( "MESH:D003773"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008155"^^xsd:string) AnnotationAssertion(rdfs:label "Dental Plaque"^^xsd:string) SubClassOf( ) # Class: (Lyngstadaas Syndrome) AnnotationAssertion( "MESH:C537490"^^xsd:string) AnnotationAssertion( "RDO:0003336"^^xsd:string) AnnotationAssertion( "Steroid dehydrogenase deficiency dental anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008156"^^xsd:string) AnnotationAssertion(rdfs:label "Lyngstadaas Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hecht Scott Syndrome) AnnotationAssertion( "MESH:C535856"^^xsd:string) AnnotationAssertion( "RDO:0001193"^^xsd:string) AnnotationAssertion( "Limb deficiency-heart malformation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008157"^^xsd:string) AnnotationAssertion(rdfs:label "Hecht Scott Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Inflammation of the Whole Uveal Tract) AnnotationAssertion( "MESH:C531766"^^xsd:string) AnnotationAssertion( "RDO:0000182"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008158"^^xsd:string) AnnotationAssertion(rdfs:label "Inflammation of the Whole Uveal Tract"^^xsd:string) SubClassOf( ) # Class: (7p2 Monosomy Syndrome) AnnotationAssertion( "MESH:C537818"^^xsd:string) AnnotationAssertion( "RDO:0003722"^^xsd:string) AnnotationAssertion( "Chromosome 7, monosomy 7p2"^^xsd:string) AnnotationAssertion( "Chromosome 7, partial deletion of short arm (7p2-)"^^xsd:string) AnnotationAssertion( "Chromosome 7, partial monosomy 7p"^^xsd:string) AnnotationAssertion( "Chromosome 7, terminal 7p deletion (del 7p21-p22)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008159"^^xsd:string) AnnotationAssertion(rdfs:label "7p2 Monosomy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sunstroke) AnnotationAssertion(Annotation( "MESH:D013474"^^xsd:string) "Heat stroke caused by exposure to the sun. It is characterized by dangerously high BODY TEMPERATURE; red, hot skin; DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly."^^xsd:string) AnnotationAssertion( "MESH:D013474"^^xsd:string) AnnotationAssertion( "Sun Stroke"^^xsd:string) AnnotationAssertion( "Sun Strokes"^^xsd:string) AnnotationAssertion( "Sunstrokes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008161"^^xsd:string) AnnotationAssertion(rdfs:label "Sunstroke"^^xsd:string) SubClassOf( ) # Class: (Dendritic Keratitis) AnnotationAssertion(Annotation( "MESH:D007635"^^xsd:string) "A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)"^^xsd:string) AnnotationAssertion( "EFO:1001883"^^xsd:string) AnnotationAssertion( "MESH:D007635"^^xsd:string) AnnotationAssertion( "Dendritic Keratitides"^^xsd:string) AnnotationAssertion( "Furrow Keratitides"^^xsd:string) AnnotationAssertion( "Furrow Keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008162"^^xsd:string) AnnotationAssertion(rdfs:label "Dendritic Keratitis"^^xsd:string) SubClassOf( ) # Class: (Chronic Hepatitis B) AnnotationAssertion(Annotation( "MESH:D019694"^^xsd:string) "INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact."^^xsd:string) AnnotationAssertion( "MESH:D019694"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008163"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Hepatitis B"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS) AnnotationAssertion(Annotation( "MIM:620007"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-09T15:18:05Z"^^xsd:string) AnnotationAssertion( "MIM:620007"^^xsd:string) AnnotationAssertion( "IDDMDS"^^xsd:string) AnnotationAssertion( "PERIPHERAL NERVE HYPEREXCITABILITY SYNDROME"^^xsd:string) AnnotationAssertion( "PNHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008164"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome Deletion) AnnotationAssertion(Annotation( "MESH:D002872"^^xsd:string) "Actual loss of portion of a chromosome."^^xsd:string) AnnotationAssertion( "MESH:D002872"^^xsd:string) AnnotationAssertion( "Partial Monosomies"^^xsd:string) AnnotationAssertion( "Partial Monosomy"^^xsd:string) AnnotationAssertion( "chromosome deletions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008165"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Deletion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Achondroplastic Dwarfism) AnnotationAssertion( "MESH:C531599"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008166"^^xsd:string) AnnotationAssertion(rdfs:label "Achondroplastic Dwarfism"^^xsd:string) SubClassOf( ) # Class: (Choreoathetosis, Familial Inverted) AnnotationAssertion( "MIM:118750"^^xsd:string) AnnotationAssertion( "MESH:C566127"^^xsd:string) AnnotationAssertion( "Infantile Choreoathetosis of Fisher"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008167"^^xsd:string) AnnotationAssertion(rdfs:label "Choreoathetosis, Familial Inverted"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Anomalous Origin of Right Pulmonary Artery) AnnotationAssertion( "MIM:610338"^^xsd:string) AnnotationAssertion( "MESH:C535681"^^xsd:string) AnnotationAssertion( "ARPA, Familial"^^xsd:string) AnnotationAssertion( "RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008168"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Anomalous Origin of Right Pulmonary Artery"^^xsd:string) SubClassOf( ) # Class: (Cavernous Transformation of Portal Vein) AnnotationAssertion( "MIM:601004"^^xsd:string) AnnotationAssertion( "MESH:C563407"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008169"^^xsd:string) AnnotationAssertion(rdfs:label "Cavernous Transformation of Portal Vein"^^xsd:string) SubClassOf( ) # Class: (Spondylo-Megaepiphyseal-Metaphyseal Dysplasia) AnnotationAssertion( "Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet. Spondylo-megaepiphyseal-metaphyseal dysplasia is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:613330"^^xsd:string) AnnotationAssertion( "MESH:C567639"^^xsd:string) AnnotationAssertion( "SMMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008170"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylo-Megaepiphyseal-Metaphyseal Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Progeroid Facial Appearance with Hand Anomalies) AnnotationAssertion( "MIM:602249"^^xsd:string) AnnotationAssertion( "MESH:C566563"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008171"^^xsd:string) AnnotationAssertion(rdfs:label "Progeroid Facial Appearance with Hand Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Paraparesis) AnnotationAssertion(Annotation( "MESH:D020335"^^xsd:string) "Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D020335"^^xsd:string) AnnotationAssertion( "Cerebral Paraparesis"^^xsd:string) AnnotationAssertion( "Chronic Progressive Paraparesis"^^xsd:string) AnnotationAssertion( "Hypotonic Paraparesis"^^xsd:string) AnnotationAssertion( "Parapareses"^^xsd:string) AnnotationAssertion( "Spinal Paraparesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008173"^^xsd:string) AnnotationAssertion(rdfs:label "Paraparesis"^^xsd:string) SubClassOf( ) # Class: (Zimmermann-Laband Syndrome 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-11-12T11:38:47Z"^^xsd:string) AnnotationAssertion( "MIM:616455"^^xsd:string) AnnotationAssertion( "ATP6V1B2 RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "ZIMMERMANN-LABAND SYNDROME WITH EPILEPTIC ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "ZLS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008174"^^xsd:string) AnnotationAssertion(rdfs:label "Zimmermann-Laband Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hereditary Diffuse Leukoencephalopathy with Spheroids 2) AnnotationAssertion(Annotation( "MIM:619661"^^xsd:string) "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Caused by heterozygous mutation in the AARS1 gene on chromosome 16q22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-01-06T14:48:08Z"^^xsd:string) AnnotationAssertion( "MIM:619661"^^xsd:string) AnnotationAssertion( "HDLS2"^^xsd:string) AnnotationAssertion( "hereditary diffuse leukoencephalopathy with spheroids, Swedish type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008175"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Diffuse Leukoencephalopathy with Spheroids 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lipomatous Hemangiopericytoma) AnnotationAssertion( "MESH:C537029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008176"^^xsd:string) AnnotationAssertion(rdfs:label "Lipomatous Hemangiopericytoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pashayan Syndrome) AnnotationAssertion( "MIM:110050"^^xsd:string) AnnotationAssertion( "MESH:C536303"^^xsd:string) AnnotationAssertion( "Blepharonasofacial malformation syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008177"^^xsd:string) AnnotationAssertion(rdfs:label "Pashayan Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sandifer Syndrome) AnnotationAssertion( "MESH:C537234"^^xsd:string) AnnotationAssertion( "Sandifer's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008178"^^xsd:string) AnnotationAssertion(rdfs:label "Sandifer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Peroxisome Biogenesis Disorder, Complementation Group 7) AnnotationAssertion( "MESH:C566422"^^xsd:string) AnnotationAssertion( "CG7"^^xsd:string) AnnotationAssertion( "CGB"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008179"^^xsd:string) AnnotationAssertion(rdfs:label "Peroxisome Biogenesis Disorder, Complementation Group 7"^^xsd:string) SubClassOf( ) # Class: (Hydroxylysinuria) AnnotationAssertion( "MIM:236900"^^xsd:string) AnnotationAssertion( "MESH:C565502"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008180"^^xsd:string) AnnotationAssertion(rdfs:label "Hydroxylysinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Severe Combined Immunodeficiency, Atypical) AnnotationAssertion( "MESH:C537590"^^xsd:string) AnnotationAssertion( "RDO:0003459"^^xsd:string) AnnotationAssertion( "SCID, atypical"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008181"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Combined Immunodeficiency, Atypical"^^xsd:string) SubClassOf( ) # Class: (Aerophagy) AnnotationAssertion(Annotation( "MESH:D000334"^^xsd:string) "Spasmodic swallowing of air."^^xsd:string) AnnotationAssertion( "MESH:D000334"^^xsd:string) AnnotationAssertion( "RDO:0004762"^^xsd:string) AnnotationAssertion( "Air Swallowing"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008182"^^xsd:string) AnnotationAssertion(rdfs:label "Aerophagy"^^xsd:string) SubClassOf( ) # Class: (Sleep-Wake Transition Disorders) AnnotationAssertion(Annotation( "MESH:D020922"^^xsd:string) "Parasomnias characterized by behavioral abnormalities that occur during the transition between wakefulness and sleep (or between sleep and wakefulness)."^^xsd:string) AnnotationAssertion( "MESH:D020922"^^xsd:string) AnnotationAssertion( "RDO:0007444"^^xsd:string) AnnotationAssertion( "Jactatio Capitis Nocturna"^^xsd:string) AnnotationAssertion( "Movement Disorders, Rhythmic Nocturnal"^^xsd:string) AnnotationAssertion( "Nocturnal Leg Cramp"^^xsd:string) AnnotationAssertion( "Nocturnal Leg Cramps"^^xsd:string) AnnotationAssertion( "Nocturnal Sleep Head Banging"^^xsd:string) AnnotationAssertion( "Sleep Starts"^^xsd:string) AnnotationAssertion( "Sleep Talking"^^xsd:string) AnnotationAssertion( "Sleep Wake Transitional Disorders"^^xsd:string) AnnotationAssertion( "Sleep-Wake Transition Disorder"^^xsd:string) AnnotationAssertion( "Sleep-Wake Transitional Disorder"^^xsd:string) AnnotationAssertion( "Somnolescent Starts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008183"^^xsd:string) AnnotationAssertion(rdfs:label "Sleep-Wake Transition Disorders"^^xsd:string) SubClassOf( ) # Class: (Fecal Incontinence) AnnotationAssertion(Annotation( "MESH:D005242"^^xsd:string) "Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus."^^xsd:string) AnnotationAssertion( "EFO:0009523"^^xsd:string) AnnotationAssertion( "MESH:D005242"^^xsd:string) AnnotationAssertion( "Fecal Incontinences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008184"^^xsd:string) AnnotationAssertion(rdfs:label "Fecal Incontinence"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive) AnnotationAssertion( "MIM:277350"^^xsd:string) AnnotationAssertion( "MESH:C567486"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008186"^^xsd:string) AnnotationAssertion(rdfs:label "Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Primary Ovarian Insufficiency 22) AnnotationAssertion(Annotation( "MIM:620548"^^xsd:string) "A female infertility, with small to atrophic ovaries and no visible ovarian follicles. Caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-24T10:44:46Z"^^xsd:string) AnnotationAssertion( "MIM:620548"^^xsd:string) AnnotationAssertion( "POF22"^^xsd:string) AnnotationAssertion( "PREMATURE OVARIAN FAILURE 22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008187"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Ovarian Insufficiency 22"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pyelectasis) AnnotationAssertion(Annotation( "MESH:D058536"^^xsd:string) "Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae."^^xsd:string) AnnotationAssertion( "MESH:D058536"^^xsd:string) AnnotationAssertion( "Fetal Pyelectases"^^xsd:string) AnnotationAssertion( "Fetal Pyelectasis"^^xsd:string) AnnotationAssertion( "Prenatal Fetal Pyelectases"^^xsd:string) AnnotationAssertion( "Prenatal Fetal Pyelectasis"^^xsd:string) AnnotationAssertion( "Pyelectases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008189"^^xsd:string) AnnotationAssertion(rdfs:label "Pyelectasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypochromic Microcytic Anemia with Iron Overload 2) AnnotationAssertion( "RDO:9000876"^^xsd:string) AnnotationAssertion( "MIM:615234"^^xsd:string) AnnotationAssertion( "AHMIO2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008190"^^xsd:string) AnnotationAssertion(rdfs:label "Hypochromic Microcytic Anemia with Iron Overload 2"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract) AnnotationAssertion( "MESH:C537298"^^xsd:string) AnnotationAssertion( "RDO:0003117"^^xsd:string) AnnotationAssertion( "Congenital nuclear cataract, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008191"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract"^^xsd:string) SubClassOf( ) # Class: (Neoplastic Processes) AnnotationAssertion(Annotation( "MESH:D009385"^^xsd:string) "The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity."^^xsd:string) AnnotationAssertion( "MESH:D009385"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008192"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplastic Processes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cartilage Fractures) AnnotationAssertion(Annotation( "MESH:D050724"^^xsd:string) "Breaks in CARTILAGE."^^xsd:string) AnnotationAssertion( "MESH:D050724"^^xsd:string) AnnotationAssertion( "Cartilage Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008193"^^xsd:string) AnnotationAssertion(rdfs:label "Cartilage Fractures"^^xsd:string) SubClassOf( ) # Class: (Radio-Ulnar Synostosis Type 1) AnnotationAssertion( "MESH:C536268"^^xsd:string) AnnotationAssertion( "Congenital radio-ulnar synostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008194"^^xsd:string) AnnotationAssertion(rdfs:label "Radio-Ulnar Synostosis Type 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Subvalvular Aortic Stenosis, Eisenberg Type) AnnotationAssertion( "MESH:C538550"^^xsd:string) AnnotationAssertion( "RDO:0004490"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008195"^^xsd:string) AnnotationAssertion(rdfs:label "Subvalvular Aortic Stenosis, Eisenberg Type"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism) AnnotationAssertion( "MIM:608432"^^xsd:string) AnnotationAssertion( "MESH:C564241"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008196"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Atrial Fibrillation 3) AnnotationAssertion( "MIM:607554"^^xsd:string) AnnotationAssertion( "RDO:0012980"^^xsd:string) AnnotationAssertion( "MESH:C563817"^^xsd:string) AnnotationAssertion( "ATFB3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008197"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 3"^^xsd:string) SubClassOf( ) # Class: (uterine carcinoma) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-13T10:12:44Z"^^xsd:string) AnnotationAssertion( "EFO:0002919"^^xsd:string) AnnotationAssertion( "carcinoma of uterus"^^xsd:string) AnnotationAssertion( "uterus carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008198"^^xsd:string) AnnotationAssertion(rdfs:label "uterine carcinoma"^^xsd:string) SubClassOf( ) # Class: (Pelvis-Shoulder Dysplasia) AnnotationAssertion( "MIM:169550"^^xsd:string) AnnotationAssertion( "MESH:C566811"^^xsd:string) AnnotationAssertion( "Kosenow syndrome"^^xsd:string) AnnotationAssertion( "scapuloiliac dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008199"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvis-Shoulder Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megalencephaly-Polydactyly Syndrome) AnnotationAssertion(Annotation( "MIM:620748"^^xsd:string) "An autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy. Caused by heterozygous mutation in the MYCN gene on chromosome 2p24."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T12:26:08Z"^^xsd:string) AnnotationAssertion( "MIM:620748"^^xsd:string) AnnotationAssertion( "MPAPA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008200"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly-Polydactyly Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eye Infections) AnnotationAssertion(Annotation( "MESH:D015817"^^xsd:string) "Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness."^^xsd:string) AnnotationAssertion( "EFO:1001888"^^xsd:string) AnnotationAssertion( "MESH:D015817"^^xsd:string) AnnotationAssertion( "RDO:0005274"^^xsd:string) AnnotationAssertion( "Eye Infection"^^xsd:string) AnnotationAssertion( "Ocular Infection"^^xsd:string) AnnotationAssertion( "Ocular Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008201"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Infections"^^xsd:string) SubClassOf( ) # Class: (WT Limb Blood Syndrome) AnnotationAssertion( "MIM:194350"^^xsd:string) AnnotationAssertion( "MESH:C536751"^^xsd:string) AnnotationAssertion( "Radial-ulnar hypoplasia with bone marrow failure and-or leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008202"^^xsd:string) AnnotationAssertion(rdfs:label "WT Limb Blood Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lubinsky Syndrome) AnnotationAssertion( "MIM:240950"^^xsd:string) AnnotationAssertion( "MESH:C543092"^^xsd:string) AnnotationAssertion( "cataracts and testicular failure"^^xsd:string) AnnotationAssertion( "hypogonadism-cataract syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008203"^^xsd:string) AnnotationAssertion(rdfs:label "Lubinsky Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (White Coat Hypertension) AnnotationAssertion(Annotation( "MESH:D059466"^^xsd:string) "Phenomenon where BLOOD PRESSURE readings are elevated only when taken in clinical settings."^^xsd:string) AnnotationAssertion( "MESH:D059466"^^xsd:string) AnnotationAssertion( "RDO:0010020"^^xsd:string) AnnotationAssertion( "Isolated Clinic Hypertension"^^xsd:string) AnnotationAssertion( "White Coat Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008204"^^xsd:string) AnnotationAssertion(rdfs:label "White Coat Hypertension"^^xsd:string) SubClassOf( ) # Class: (Macrostomia) AnnotationAssertion(Annotation( "MESH:D008265"^^xsd:string) "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MIM:613545"^^xsd:string) AnnotationAssertion( "MESH:D008265"^^xsd:string) AnnotationAssertion( "COMMISSURAL CLEFT, ISOLATED"^^xsd:string) AnnotationAssertion( "LATERAL CLEFT, ISOLATED"^^xsd:string) AnnotationAssertion( "MACROSTOMIA, ISOLATED"^^xsd:string) AnnotationAssertion( "Macrostomias"^^xsd:string) AnnotationAssertion( "TRANSVERSE CLEFT, ISOLATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008205"^^xsd:string) AnnotationAssertion(rdfs:label "Macrostomia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chronic Thyroiditis) AnnotationAssertion( "MESH:C535842"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008207"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Thyroiditis"^^xsd:string) SubClassOf( ) # Class: (Heparin-induced Thrombocytopenia) AnnotationAssertion( "The development of thrombocytopenia, as a result of the administration of one of the various forms of the anticoagulant heparin."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-03-16T00:00:00Z"^^xsd:string) AnnotationAssertion( "HIT"^^xsd:string) AnnotationAssertion( "heparin-induced thrombopenia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008208"^^xsd:string) AnnotationAssertion(rdfs:label "Heparin-induced Thrombocytopenia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bovine Virus Diarrhea-Mucosal Disease) AnnotationAssertion(Annotation( "MESH:D001912"^^xsd:string) "Acute disease of cattle caused by the bovine viral diarrhea viruses (DIARRHEA VIRUSES, BOVINE VIRAL). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality."^^xsd:string) AnnotationAssertion( "EFO:0007181"^^xsd:string) AnnotationAssertion( "MESH:D001912"^^xsd:string) AnnotationAssertion( "Mucosal Disease, Bovine Viral Diarrhea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008210"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Virus Diarrhea-Mucosal Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Valinemia) AnnotationAssertion( "MIM:277100"^^xsd:string) AnnotationAssertion( "MESH:C536524"^^xsd:string) AnnotationAssertion( "Hypervalinemia"^^xsd:string) AnnotationAssertion( "Valine transaminase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008211"^^xsd:string) AnnotationAssertion(rdfs:label "Valinemia"^^xsd:string) SubClassOf( ) # Class: (Diabetic Foot) AnnotationAssertion(Annotation( "MESH:D017719"^^xsd:string) "Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION."^^xsd:string) AnnotationAssertion( "EFO:1001459"^^xsd:string) AnnotationAssertion( "MESH:D017719"^^xsd:string) AnnotationAssertion( "Diabetic Feet"^^xsd:string) AnnotationAssertion( "Diabetic Foot Ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008212"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Foot"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Paragangliomas 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-06-25T14:14:11Z"^^xsd:string) AnnotationAssertion( "MIM:618475"^^xsd:string) AnnotationAssertion( "PGL7"^^xsd:string) AnnotationAssertion( "PPGL7"^^xsd:string) AnnotationAssertion( "pheochromocytoma/paraganglioma syndrome 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008213"^^xsd:string) AnnotationAssertion(rdfs:label "Paragangliomas 7"^^xsd:string) SubClassOf( ) # Class: (Genu Valgum) AnnotationAssertion(Annotation( "MESH:D056304"^^xsd:string) "An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)."^^xsd:string) AnnotationAssertion( "MESH:D056304"^^xsd:string) AnnotationAssertion( "Genu Valga"^^xsd:string) AnnotationAssertion( "Genu Valgas"^^xsd:string) AnnotationAssertion( "Genu Valgums"^^xsd:string) AnnotationAssertion( "Knock Knee"^^xsd:string) AnnotationAssertion( "Knock Knees"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008214"^^xsd:string) AnnotationAssertion(rdfs:label "Genu Valgum"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Craniosynostosis Syndrome, Autosomal Recessive) AnnotationAssertion( "MIM:606529"^^xsd:string) AnnotationAssertion( "MESH:C564700"^^xsd:string) AnnotationAssertion( "Craniosynostosis Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008216"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis Syndrome, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hemorrhage) AnnotationAssertion(Annotation( "MESH:D006470"^^xsd:string) "Bleeding or escape of blood from a vessel."^^xsd:string) AnnotationAssertion( "MESH:D006470"^^xsd:string) AnnotationAssertion( "RDO:0004420"^^xsd:string) AnnotationAssertion( "Bleeding"^^xsd:string) AnnotationAssertion( "Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008217"^^xsd:string) AnnotationAssertion(rdfs:label "Hemorrhage"^^xsd:string) SubClassOf( ) # Class: (Carey-Fineman-Ziter Syndrome 1) AnnotationAssertion( "A multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Caused by homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-01T12:18:50Z"^^xsd:string) AnnotationAssertion( "MIM:254940"^^xsd:string) AnnotationAssertion( "CFZS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008218"^^xsd:string) AnnotationAssertion(rdfs:label "Carey-Fineman-Ziter Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Post-Concussion Syndrome) AnnotationAssertion(Annotation( "MESH:D038223"^^xsd:string) "The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging."^^xsd:string) AnnotationAssertion( "EFO:1001827"^^xsd:string) AnnotationAssertion( "MESH:D038223"^^xsd:string) AnnotationAssertion( "Chronic Post-Concussive Syndrome"^^xsd:string) AnnotationAssertion( "Chronic Post-Concussive Syndromes"^^xsd:string) AnnotationAssertion( "Post Concussion Symptoms"^^xsd:string) AnnotationAssertion( "Post Concussive Symptoms"^^xsd:string) AnnotationAssertion( "Post Concussive Syndrome"^^xsd:string) AnnotationAssertion( "Post-Concussion Symptom"^^xsd:string) AnnotationAssertion( "Post-Concussive Symptom"^^xsd:string) AnnotationAssertion( "Post-Concussive Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008219"^^xsd:string) AnnotationAssertion(rdfs:label "Post-Concussion Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retrobulbar Hemorrhage) AnnotationAssertion(Annotation( "MESH:D019315"^^xsd:string) "Hemorrhage within the orbital cavity, posterior to the eyeball."^^xsd:string) AnnotationAssertion( "EFO:1001414"^^xsd:string) AnnotationAssertion( "MESH:D019315"^^xsd:string) AnnotationAssertion( "Retrobulbar Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008220"^^xsd:string) AnnotationAssertion(rdfs:label "Retrobulbar Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Medial Coronary Sclerosis of Infancy) AnnotationAssertion( "MESH:C565944"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008221"^^xsd:string) AnnotationAssertion(rdfs:label "Medial Coronary Sclerosis of Infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Usher Syndrome Type 1M) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-23T09:56:41Z"^^xsd:string) AnnotationAssertion( "MIM:618632"^^xsd:string) AnnotationAssertion( "USH1M"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008222"^^xsd:string) AnnotationAssertion(rdfs:label "Usher Syndrome Type 1M"^^xsd:string) SubClassOf( ) # Class: (Desmoplastic Cerebral Astrocytoma of Infancy) AnnotationAssertion( "MESH:C535945"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008223"^^xsd:string) AnnotationAssertion(rdfs:label "Desmoplastic Cerebral Astrocytoma of Infancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stratton-Parker Syndrome) AnnotationAssertion( "MIM:185120"^^xsd:string) AnnotationAssertion( "MESH:C566105"^^xsd:string) AnnotationAssertion( "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008224"^^xsd:string) AnnotationAssertion(rdfs:label "Stratton-Parker Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respirovirus Infections) AnnotationAssertion(Annotation( "MESH:D010253"^^xsd:string) "Infections with viruses of the genus RESPIROVIRUS, family PARAMYXOVIRIDAE. Host cell infection occurs by adsorption, via HEMAGGLUTININ, to the cell surface."^^xsd:string) AnnotationAssertion( "EFO:0007465"^^xsd:string) AnnotationAssertion( "MESH:D010253"^^xsd:string) AnnotationAssertion( "RDO:0006282"^^xsd:string) AnnotationAssertion( "Respirovirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008225"^^xsd:string) AnnotationAssertion(rdfs:label "Respirovirus Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pregnancy-associated Malaria) AnnotationAssertion( "The co-occurrence of pregnancy and malaria caused by Plasmodium falciparum."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-04-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001161"^^xsd:string) AnnotationAssertion( "PAM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008227"^^xsd:string) AnnotationAssertion(rdfs:label "Pregnancy-associated Malaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Forsythe-Wakeling Syndrome) AnnotationAssertion( "MIM:613606"^^xsd:string) AnnotationAssertion( "FWS"^^xsd:string) AnnotationAssertion( "MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008228"^^xsd:string) AnnotationAssertion(rdfs:label "Forsythe-Wakeling Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Recurrent Myoglobinuria) AnnotationAssertion( "MIM:550500"^^xsd:string) AnnotationAssertion( "MESH:C564018"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008229"^^xsd:string) AnnotationAssertion(rdfs:label "Recurrent Myoglobinuria"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Malformation 13) AnnotationAssertion(Annotation( "MIM:620244"^^xsd:string) "A disease characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Caused by homozygous mutation in the THSD1 gene on chromosome 13q14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-13T08:15:16Z"^^xsd:string) AnnotationAssertion( "MIM:620244"^^xsd:string) AnnotationAssertion( "HYDROPS FETALIS, NONIMMUNE, WITH CARDIAC DEFECTS AND HEMANGIOMAS"^^xsd:string) AnnotationAssertion( "LMPHM13"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008230"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 13"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nutritional and Metabolic Diseases) AnnotationAssertion(Annotation( "MESH:D009750"^^xsd:string) "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances."^^xsd:string) AnnotationAssertion( "MESH:D009750"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008231"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Nutritional and Metabolic Diseases"^^xsd:string) SubClassOf( ) # Class: (Neutrophilia) AnnotationAssertion( "A transient increase in the number of neutrophils in a body fluid"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-05-29T00:00:00Z"^^xsd:string) AnnotationAssertion( "neutrophilic leukocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008232"^^xsd:string) AnnotationAssertion(rdfs:label "Neutrophilia"^^xsd:string) SubClassOf( ) # Class: (Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies) AnnotationAssertion( "MIM:271520"^^xsd:string) AnnotationAssertion( "MESH:C564799"^^xsd:string) AnnotationAssertion( "CMN Syndrome"^^xsd:string) AnnotationAssertion( "Casamassima-Morton-Nance Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008233"^^xsd:string) AnnotationAssertion(rdfs:label "Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Distal Arthrogryposis Type 12) AnnotationAssertion(Annotation( "MIM:620545"^^xsd:string) "A disease characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Caused by homozygous mutation in the ADAMTS15 gene on chromosome 11q25."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-24T13:35:49Z"^^xsd:string) AnnotationAssertion( "MIM:620545"^^xsd:string) AnnotationAssertion( "DA12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008234"^^xsd:string) AnnotationAssertion(rdfs:label "Distal Arthrogryposis Type 12"^^xsd:string) SubClassOf( ) # Class: (Tyrosinosis) AnnotationAssertion( "MESH:C562659"^^xsd:string) AnnotationAssertion( "MIM:276800"^^xsd:string) AnnotationAssertion( "MONDO:0010163"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008235"^^xsd:string) AnnotationAssertion(rdfs:label "Tyrosinosis"^^xsd:string) SubClassOf( ) # Class: (Ritscher-Schinzel Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T16:28:49Z"^^xsd:string) AnnotationAssertion( "MIM:619135"^^xsd:string) AnnotationAssertion( "RTSC3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008236"^^xsd:string) AnnotationAssertion(rdfs:label "Ritscher-Schinzel Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Hemimegalencephaly) AnnotationAssertion(Annotation( "MESH:D065705"^^xsd:string) "Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation."^^xsd:string) AnnotationAssertion( "MESH:D065705"^^xsd:string) AnnotationAssertion( "NCI:C177779"^^xsd:string) AnnotationAssertion( "Unilateral Macrocephalies"^^xsd:string) AnnotationAssertion( "Unilateral Macrocephaly"^^xsd:string) AnnotationAssertion( "Unilateral Megalencephalies"^^xsd:string) AnnotationAssertion( "hemimegalencephalies"^^xsd:string) AnnotationAssertion( "unilateral megalencephaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008237"^^xsd:string) AnnotationAssertion(rdfs:label "Hemimegalencephaly"^^xsd:string) SubClassOf( ) # Class: (Dincsoy Salih Patel Syndrome) AnnotationAssertion( "MIM:601016"^^xsd:string) AnnotationAssertion( "MESH:C536177"^^xsd:string) AnnotationAssertion( "Dincsoy syndrome"^^xsd:string) AnnotationAssertion( "multiple midline malformations with limb abnormalities and hypopituitarism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008238"^^xsd:string) AnnotationAssertion(rdfs:label "Dincsoy Salih Patel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Preeclampsia/Eclampsia 4) AnnotationAssertion( "MIM:609404"^^xsd:string) AnnotationAssertion( "MESH:C563724"^^xsd:string) AnnotationAssertion( "PEE4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008239"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclampsia/Eclampsia 4"^^xsd:string) SubClassOf( ) # Class: (Disorganized Schizophrenia) AnnotationAssertion(Annotation( "MESH:D012562"^^xsd:string) "A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D012562"^^xsd:string) AnnotationAssertion( "Disorganized Schizophrenias"^^xsd:string) AnnotationAssertion( "Hebephrenic Schizophrenia"^^xsd:string) AnnotationAssertion( "Hebephrenic Schizophrenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008240"^^xsd:string) AnnotationAssertion(rdfs:label "Disorganized Schizophrenia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pachyonychia Congenita 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T12:29:05Z"^^xsd:string) AnnotationAssertion( "MIM:167200"^^xsd:string) AnnotationAssertion( "Jadassohn-Lewandowski Syndrome (Pc-1)"^^xsd:string) AnnotationAssertion( "Jadassohn-Lewandowsky Syndrome"^^xsd:string) AnnotationAssertion( "PC1"^^xsd:string) AnnotationAssertion( "Pachyonychia Congenita Tarda, Type 1"^^xsd:string) AnnotationAssertion( "Pachyonychia Congenita Type 1"^^xsd:string) AnnotationAssertion( "pachyonychia congenita, Jadassohn-Lewandowsky type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008242"^^xsd:string) AnnotationAssertion(rdfs:label "Pachyonychia Congenita 1"^^xsd:string) SubClassOf( ) # Class: (Pyruvate Dehydrogenase E2 Deficiency) AnnotationAssertion( "Pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene on chromosome 11q23. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:245348"^^xsd:string) AnnotationAssertion( "MESH:C565448"^^xsd:string) AnnotationAssertion( "Dihydrolipoyl transacetylase"^^xsd:string) AnnotationAssertion( "Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex"^^xsd:string) AnnotationAssertion( "PDHDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008243"^^xsd:string) AnnotationAssertion(rdfs:label "Pyruvate Dehydrogenase E2 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Delta-Thalassemia) AnnotationAssertion(Annotation( "MESH:D055538"^^xsd:string) "A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA."^^xsd:string) AnnotationAssertion( "MESH:D055538"^^xsd:string) AnnotationAssertion( "Delta-0-Thalassemia"^^xsd:string) AnnotationAssertion( "delta-Thalassemias"^^xsd:string) AnnotationAssertion( "DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN A(2) GROVETOWN"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN A(2) YIALOUSA"^^xsd:string) AnnotationAssertion( "DOID:9008244"^^xsd:string) AnnotationAssertion(rdfs:label "Delta-Thalassemia"^^xsd:string) SubClassOf( ) # Class: (Conjunctival Neoplasms) AnnotationAssertion(Annotation( "MESH:D003230"^^xsd:string) "Tumors or cancer of the CONJUNCTIVA."^^xsd:string) AnnotationAssertion( "MESH:D003230"^^xsd:string) AnnotationAssertion( "Conjunctival Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008245"^^xsd:string) AnnotationAssertion(rdfs:label "Conjunctival Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Papulosquamous Skin Diseases) AnnotationAssertion(Annotation( "MESH:D017444"^^xsd:string) "A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions."^^xsd:string) AnnotationAssertion( "RDO:0006291"^^xsd:string) AnnotationAssertion( "MESH:D017444"^^xsd:string) AnnotationAssertion( "Papulosquamous Disorder"^^xsd:string) AnnotationAssertion( "Papulosquamous Disorders"^^xsd:string) AnnotationAssertion( "Papulosquamous Skin Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008246"^^xsd:string) AnnotationAssertion(rdfs:label "Papulosquamous Skin Diseases"^^xsd:string) SubClassOf( ) # Class: (Pfeiffer Kapferer Syndrome) AnnotationAssertion( "MESH:C537887"^^xsd:string) AnnotationAssertion( "Short stature, mental retardation and multiple dysmorphisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008247"^^xsd:string) AnnotationAssertion(rdfs:label "Pfeiffer Kapferer Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617732"^^xsd:string) AnnotationAssertion( "FPVEPD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008248"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction"^^xsd:string) SubClassOf( ) # Class: (Bifid or Double Ureter) AnnotationAssertion( "MIM:191550"^^xsd:string) AnnotationAssertion( "MESH:C566012"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008249"^^xsd:string) AnnotationAssertion(rdfs:label "Bifid or Double Ureter"^^xsd:string) SubClassOf( ) # Class: (Leukoencephalopathy with Ataxia) AnnotationAssertion( "MIM:615651"^^xsd:string) AnnotationAssertion( "NCI:C171603"^^xsd:string) AnnotationAssertion( "RDO:9001025"^^xsd:string) AnnotationAssertion( "LKPAT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008250"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathy with Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Toothache) AnnotationAssertion(Annotation( "MESH:D014098"^^xsd:string) "Pain in the adjacent areas of the teeth."^^xsd:string) AnnotationAssertion( "EFO:0010072"^^xsd:string) AnnotationAssertion( "MESH:D014098"^^xsd:string) AnnotationAssertion( "odontalgia"^^xsd:string) AnnotationAssertion( "odontalgias"^^xsd:string) AnnotationAssertion( "toothaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008251"^^xsd:string) AnnotationAssertion(rdfs:label "Toothache"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Granulomatous Disease with Defect in Neutrophil Chemotaxis) AnnotationAssertion( "MESH:C565534"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008254"^^xsd:string) AnnotationAssertion(rdfs:label "Granulomatous Disease with Defect in Neutrophil Chemotaxis"^^xsd:string) SubClassOf( ) # Class: (Cognitive Impairment with or Without Cerebellar Ataxia) AnnotationAssertion( "Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614306"^^xsd:string) AnnotationAssertion( "CIAT"^^xsd:string) AnnotationAssertion( "COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008255"^^xsd:string) AnnotationAssertion(rdfs:label "Cognitive Impairment with or Without Cerebellar Ataxia"^^xsd:string) SubClassOf( ) # Class: (Kallikrein Hypertension) AnnotationAssertion( "MESH:C537707"^^xsd:string) AnnotationAssertion( "Kallikrein attenuated hypertension"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008256"^^xsd:string) AnnotationAssertion(rdfs:label "Kallikrein Hypertension"^^xsd:string) SubClassOf( ) # Class: (Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal) AnnotationAssertion( "MIM:175510"^^xsd:string) AnnotationAssertion( "EFO:0010279"^^xsd:string) AnnotationAssertion( "MESH:C566774"^^xsd:string) AnnotationAssertion( "GIST-plus syndrome"^^xsd:string) AnnotationAssertion( "GISTPS"^^xsd:string) AnnotationAssertion( "Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008257"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bovine Mastitis) AnnotationAssertion(Annotation( "MESH:D008414"^^xsd:string) "INFLAMMATION of the UDDER in cows."^^xsd:string) AnnotationAssertion( "EFO:1001765"^^xsd:string) AnnotationAssertion( "MESH:D008414"^^xsd:string) AnnotationAssertion( "Bovine Mastitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008258"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Mastitis"^^xsd:string) SubClassOf( ) # Class: (Atypical Interstitial Pneumonia of Cattle) AnnotationAssertion(Annotation( "MESH:D011016"^^xsd:string) "A cattle disease of uncertain cause, probably an allergic reaction."^^xsd:string) AnnotationAssertion( "MESH:D011016"^^xsd:string) AnnotationAssertion( "Bovine Pulmonary Adenomatoses"^^xsd:string) AnnotationAssertion( "Bovine Pulmonary Adenomatosis"^^xsd:string) AnnotationAssertion( "Emphysema, Acute Bovine Pulmonary"^^xsd:string) AnnotationAssertion( "Fog Fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008259"^^xsd:string) AnnotationAssertion(rdfs:label "Atypical Interstitial Pneumonia of Cattle"^^xsd:string) SubClassOf( ) # Class: (Multiple Epiphyseal Dysplasia with Miniepiphyses) AnnotationAssertion( "MIM:609325"^^xsd:string) AnnotationAssertion( "MESH:C563735"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008260"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Epiphyseal Dysplasia with Miniepiphyses"^^xsd:string) SubClassOf( ) # Class: (Chemically-Induced Disorders) AnnotationAssertion(Annotation( "MESH:D064419"^^xsd:string) "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES."^^xsd:string) AnnotationAssertion( "EFO:0007685"^^xsd:string) AnnotationAssertion( "MESH:D064419"^^xsd:string) AnnotationAssertion( "RDO:0015820"^^xsd:string) AnnotationAssertion( "Chemically-Induced Disorder"^^xsd:string) AnnotationAssertion( "trichloroethylene-induced hypersensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008261"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Chemically-Induced Disorders"^^xsd:string) SubClassOf( ) # Class: (WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED) AnnotationAssertion(Annotation( "MIM:301041"^^xsd:string) "A disease in which patients present at birth with AMC and joint contractures, including clenched hands, overlapping digits, ulnar or radial deviation of the hands, metacarpophalangeal contractures, flexion contractures of the wrists, elbows, and knees, hip contractures, rocker bottom feet, clubfeet, Achilles tendon contractures, narrow chest with limited shoulder movements, and progressive kyphosis or scoliosis."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-20T16:43:25Z"^^xsd:string) AnnotationAssertion( "MIM:301041"^^xsd:string) AnnotationAssertion( "NCI:C198578"^^xsd:string) AnnotationAssertion( "WRWFFR"^^xsd:string) AnnotationAssertion( "female-restricted Wieacker-Wolff syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008262"^^xsd:string) AnnotationAssertion(rdfs:label "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED"^^xsd:string) SubClassOf( ) # Class: (Paroxysmal Nocturnal Hemoglobinuria 2) AnnotationAssertion( "PIGT-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:615399"^^xsd:string) AnnotationAssertion( "PNH2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9008263"^^xsd:string) AnnotationAssertion(rdfs:label "Paroxysmal Nocturnal Hemoglobinuria 2"^^xsd:string) SubClassOf( ) # Class: (Uhl Anomaly) AnnotationAssertion( "MESH:C536932"^^xsd:string) AnnotationAssertion( "Parchment right ventricle"^^xsd:string) AnnotationAssertion( "Uhl's anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008264"^^xsd:string) AnnotationAssertion(rdfs:label "Uhl Anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neuhauser Syndrome) AnnotationAssertion( "GARD:3448"^^xsd:string) AnnotationAssertion( "MESH:C536143"^^xsd:string) AnnotationAssertion( "MIM:249310"^^xsd:string) AnnotationAssertion( "MONDO:0009577"^^xsd:string) AnnotationAssertion( "ORDO:2479"^^xsd:string) AnnotationAssertion( "Cerebral palsy-hypotonic seizures-megalcornea syndrome"^^xsd:string) AnnotationAssertion( "MMR syndrome"^^xsd:string) AnnotationAssertion( "Megalocornea mental retardation syndrome"^^xsd:string) AnnotationAssertion( "Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome"^^xsd:string) AnnotationAssertion( "Neuhäuser syndrome"^^xsd:string) AnnotationAssertion( "Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome"^^xsd:string) AnnotationAssertion( "megalocornea-intellectual disability syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008266"^^xsd:string) AnnotationAssertion(rdfs:label "Neuhauser Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fibrous Dysplasia of Bone) AnnotationAssertion(Annotation( "MESH:D005357"^^xsd:string) "A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)."^^xsd:string) AnnotationAssertion( "MESH:D005357"^^xsd:string) AnnotationAssertion( "Bone Fibrous Dysplasia"^^xsd:string) AnnotationAssertion( "Bone Fibrous Dysplasias"^^xsd:string) AnnotationAssertion( "Osteitis Fibrosa Disseminata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008267"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrous Dysplasia of Bone"^^xsd:string) SubClassOf( ) # Class: (Enuresis) AnnotationAssertion(Annotation( "MESH:D004775"^^xsd:string) "Involuntary discharge of URINE after expected age of completed development of urinary control. This can happen during the daytime (DIURNAL ENURESIS) while one is awake or during sleep (NOCTURNAL ENURESIS). Enuresis can be in children or in adults (as persistent primary enuresis and secondary adult-onset enuresis)."^^xsd:string) AnnotationAssertion( "MESH:D004775"^^xsd:string) AnnotationAssertion( "MONDO:0024290"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008268"^^xsd:string) AnnotationAssertion(rdfs:label "Enuresis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kasznica Carlson Coppedge Syndrome) AnnotationAssertion( "MESH:C537011"^^xsd:string) AnnotationAssertion( "RDO:0002755"^^xsd:string) AnnotationAssertion( "Ectrodactyly spina bifida cardiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008269"^^xsd:string) AnnotationAssertion(rdfs:label "Kasznica Carlson Coppedge Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Braddock Carey Syndrome) AnnotationAssertion( "MESH:C536898"^^xsd:string) AnnotationAssertion( "MIM:PS619980"^^xsd:string) AnnotationAssertion( "Thrombocytopenia Robin Sequence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008270"^^xsd:string) AnnotationAssertion(rdfs:label "Braddock Carey Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sublingual Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D013362"^^xsd:string) "Neoplasms of the sublingual glands."^^xsd:string) AnnotationAssertion( "EFO:1001430"^^xsd:string) AnnotationAssertion( "MESH:D013362"^^xsd:string) AnnotationAssertion( "RDO:0006640"^^xsd:string) AnnotationAssertion( "Sublingual Gland Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008271"^^xsd:string) AnnotationAssertion(rdfs:label "Sublingual Gland Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Acid-Labile Subunit Deficiency) AnnotationAssertion( "Associated with severely reduced IGF1 and IGFBP3 concentrations and mild growth retardation. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:615961"^^xsd:string) AnnotationAssertion( "ACLSD"^^xsd:string) AnnotationAssertion( "SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008272"^^xsd:string) AnnotationAssertion(rdfs:label "Acid-Labile Subunit Deficiency"^^xsd:string) SubClassOf( ) # Class: (Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia) AnnotationAssertion( "MIM:608809"^^xsd:string) AnnotationAssertion( "MESH:C535888"^^xsd:string) AnnotationAssertion( "MESH:C563852"^^xsd:string) AnnotationAssertion( "Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008273"^^xsd:string) AnnotationAssertion(rdfs:label "Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bethlem Myopathy 1C) AnnotationAssertion(Annotation( "MIM:620726"^^xsd:string) "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A3 gene on chromosome 2q37."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T10:51:27Z"^^xsd:string) AnnotationAssertion( "MIM:620726"^^xsd:string) AnnotationAssertion( "MONDO:0958234"^^xsd:string) AnnotationAssertion( "BTHLM1C"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008274"^^xsd:string) AnnotationAssertion(rdfs:label "Bethlem Myopathy 1C"^^xsd:string) SubClassOf( ) # Class: (Oroacral Syndrome, Verloes-Koulischer Type) AnnotationAssertion( "MIM:603446"^^xsd:string) AnnotationAssertion( "MESH:C566374"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008275"^^xsd:string) AnnotationAssertion(rdfs:label "Oroacral Syndrome, Verloes-Koulischer Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Juvenile Pauciarticular Chronic Arthritis) AnnotationAssertion( "RDO:0001841"^^xsd:string) AnnotationAssertion( "EFO:0003114"^^xsd:string) AnnotationAssertion( "EFO:1002019"^^xsd:string) AnnotationAssertion( "MESH:C536312"^^xsd:string) AnnotationAssertion( "Pauciarticular Juvenile Rheumatoid Arthritis"^^xsd:string) AnnotationAssertion( "Pauciarticular chronic arthritis"^^xsd:string) AnnotationAssertion( "oligoarticular juvenile idiopathic arthritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008276"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Pauciarticular Chronic Arthritis"^^xsd:string) SubClassOf( ) # Class: (Short Limb Dwarf Lethal Colavita Kozlowski Type) AnnotationAssertion( "MESH:C537597"^^xsd:string) AnnotationAssertion( "RDO:0003468"^^xsd:string) AnnotationAssertion( "Colavita Kozlowski syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008277"^^xsd:string) AnnotationAssertion(rdfs:label "Short Limb Dwarf Lethal Colavita Kozlowski Type"^^xsd:string) SubClassOf( ) # Class: (Preeclampsia/Eclampsia 3) AnnotationAssertion( "MIM:609403"^^xsd:string) AnnotationAssertion( "MESH:C563725"^^xsd:string) AnnotationAssertion( "PEE3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008278"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclampsia/Eclampsia 3"^^xsd:string) SubClassOf( ) # Class: (Progressive Familial Intrahepatic Cholestasis 11) AnnotationAssertion(Annotation( "MIM:619874"^^xsd:string) "A progressive familial intrahepatic cholestasis caused by homozygous mutation in the SEMA7A gene on chromosome 15q24."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-05-11T16:29:15Z"^^xsd:string) AnnotationAssertion( "MIM:619874"^^xsd:string) AnnotationAssertion( "PFIC11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008279"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Intrahepatic Cholestasis 11"^^xsd:string) SubClassOf( ) # Class: (Holoprosencephaly 10) AnnotationAssertion( "MESH:C567278"^^xsd:string) AnnotationAssertion( "Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008280"^^xsd:string) AnnotationAssertion(rdfs:label "Holoprosencephaly 10"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Factor XIII, B Subunit, Deficiency Of) AnnotationAssertion( "MIM:613235"^^xsd:string) AnnotationAssertion( "MESH:C567688"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008281"^^xsd:string) AnnotationAssertion(rdfs:label "Factor XIII, B Subunit, Deficiency Of"^^xsd:string) SubClassOf( ) # Class: (Diastolic Hypertension, Resistance to) AnnotationAssertion( "MIM:608622"^^xsd:string) AnnotationAssertion( "RDO:0013032"^^xsd:string) AnnotationAssertion( "MESH:C563897"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008282"^^xsd:string) AnnotationAssertion(rdfs:label "Diastolic Hypertension, Resistance to"^^xsd:string) SubClassOf( ) # Class: (Selective Tooth Agenesis 7) AnnotationAssertion( "LRP6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616724"^^xsd:string) AnnotationAssertion( "STHAG7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008283"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 7"^^xsd:string) SubClassOf( ) # Class: (Winter Harding Hyde Syndrome) AnnotationAssertion( "MESH:C536712"^^xsd:string) AnnotationAssertion( "Pachygyria joint contractures facial abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008284"^^xsd:string) AnnotationAssertion(rdfs:label "Winter Harding Hyde Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Leriche Syndrome) AnnotationAssertion(Annotation( "MESH:D007925"^^xsd:string) "A condition caused by occlusion of terminal aorta, the primary branches of the ABDOMINAL AORTA, as in aortoiliac obstruction. Leriche syndrome usually occurs in males and is characterized by IMPOTENCE, absence of a pulse in the femoral arteries, weakness and numbness in the lower back, buttocks, hips, and lower limbs."^^xsd:string) AnnotationAssertion( "MESH:D007925"^^xsd:string) AnnotationAssertion( "RDO:0005981"^^xsd:string) AnnotationAssertion( "Leriche's Syndrome"^^xsd:string) AnnotationAssertion( "Leriches Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008285"^^xsd:string) AnnotationAssertion(rdfs:label "Leriche Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Experimental Autoimmune Myasthenia Gravis) AnnotationAssertion(Annotation( "MESH:D020720"^^xsd:string) "Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis. Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis. (From Joynt, Clinical Neurology, 1997, Ch 54, p3)"^^xsd:string) AnnotationAssertion( "RDO:0007422"^^xsd:string) AnnotationAssertion( "MESH:D020720"^^xsd:string) AnnotationAssertion( "EAMG"^^xsd:string) AnnotationAssertion( "Experimental Myasthenia"^^xsd:string) AnnotationAssertion( "Experimental Myasthenia Gravis"^^xsd:string) AnnotationAssertion( "Experimental Myasthenias"^^xsd:string) AnnotationAssertion( "Passive Transfer Experimental Autoimmune Myasthenia Gravis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008286"^^xsd:string) AnnotationAssertion(rdfs:label "Experimental Autoimmune Myasthenia Gravis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gomez Lopez Hernandez Syndrome) AnnotationAssertion( "MIM:601853"^^xsd:string) AnnotationAssertion( "MESH:C537285"^^xsd:string) AnnotationAssertion( "GLH Syndrome"^^xsd:string) AnnotationAssertion( "GLHS"^^xsd:string) AnnotationAssertion( "cerebello-trigeminal-dermal dysplasia"^^xsd:string) AnnotationAssertion( "cerebellotrigeminal dermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008287"^^xsd:string) AnnotationAssertion(rdfs:label "Gomez Lopez Hernandez Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visceral Heterotaxy 5, Autosomal) AnnotationAssertion( "situs invertus viscerum"^^xsd:string) AnnotationAssertion( "MIM:270100"^^xsd:string) AnnotationAssertion( "HTX5"^^xsd:string) AnnotationAssertion( "SIV"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NODAL-related disorder"^^xsd:string) AnnotationAssertion( "NODAL-related disorders"^^xsd:string) AnnotationAssertion( "DOID:9008288"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 5, Autosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tiglic Acidemia) AnnotationAssertion( "MIM:275190"^^xsd:string) AnnotationAssertion( "MESH:C536921"^^xsd:string) AnnotationAssertion( "Disorder of isoleucine metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008289"^^xsd:string) AnnotationAssertion(rdfs:label "Tiglic Acidemia"^^xsd:string) SubClassOf( ) # Class: (Knee Injuries) AnnotationAssertion(Annotation( "MESH:D007718"^^xsd:string) "Injuries to the knee or the knee joint."^^xsd:string) AnnotationAssertion( "EFO:0009507"^^xsd:string) AnnotationAssertion( "MESH:D007718"^^xsd:string) AnnotationAssertion( "Knee Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008290"^^xsd:string) AnnotationAssertion(rdfs:label "Knee Injuries"^^xsd:string) SubClassOf( ) # Class: (Herpetic Stomatitis) AnnotationAssertion(Annotation( "MESH:D013283"^^xsd:string) "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents."^^xsd:string) AnnotationAssertion( "EFO:0007307"^^xsd:string) AnnotationAssertion( "MESH:D013283"^^xsd:string) AnnotationAssertion( "Herpetic Gingivostomatitides"^^xsd:string) AnnotationAssertion( "Herpetic Gingivostomatitis"^^xsd:string) AnnotationAssertion( "Herpetic Stomatitides"^^xsd:string) AnnotationAssertion( "Oral Herpes Simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008291"^^xsd:string) AnnotationAssertion(rdfs:label "Herpetic Stomatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dystonia with Cerebellar Atrophy) AnnotationAssertion( "MIM:611694"^^xsd:string) AnnotationAssertion( "MESH:C567131"^^xsd:string) AnnotationAssertion( "DYTCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008292"^^xsd:string) AnnotationAssertion(rdfs:label "Dystonia with Cerebellar Atrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies) AnnotationAssertion( "MIM:251700"^^xsd:string) AnnotationAssertion( "MESH:C566884"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008295"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Eye Abnormalities) AnnotationAssertion(Annotation( "MESH:D005124"^^xsd:string) "Congenital absence of or defects in structures of the eye; may also be hereditary."^^xsd:string) AnnotationAssertion( "HP:0004328"^^xsd:string) AnnotationAssertion( "MESH:D005124"^^xsd:string) AnnotationAssertion( "MP:0005193"^^xsd:string) AnnotationAssertion( "ABNORMALITY OF THE EYE"^^xsd:string) AnnotationAssertion( "OCULAR ANOMALIES"^^xsd:string) AnnotationAssertion( "eye abnormality"^^xsd:string) AnnotationAssertion( "ABNORMAL ANTERIOR EYE SEGMENT MORPHOLOGY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008296"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Motor Disorders) AnnotationAssertion(Annotation( "MESH:D000068079"^^xsd:string) "Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-V)"^^xsd:string) AnnotationAssertion( "MESH:D000068079"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008297"^^xsd:string) AnnotationAssertion(rdfs:label "Motor Disorders"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Atresia with Ventricular Septal Defect) AnnotationAssertion( "MIM:178370"^^xsd:string) AnnotationAssertion( "MESH:C562833"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008298"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Atresia with Ventricular Septal Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mediastinal Neoplasms) AnnotationAssertion(Annotation( "MESH:D008479"^^xsd:string) "Tumors or cancer of the MEDIASTINUM."^^xsd:string) AnnotationAssertion( "MESH:D008479"^^xsd:string) AnnotationAssertion( "Mediastinal Neoplasm"^^xsd:string) AnnotationAssertion( "Mediastinum Neoplasm"^^xsd:string) AnnotationAssertion( "Mediastinum Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008299"^^xsd:string) AnnotationAssertion(rdfs:label "Mediastinal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nephrotic Syndrome with Ocular Anomalies) AnnotationAssertion( "MESH:C536403"^^xsd:string) AnnotationAssertion( "Glastre Cochat Bouvier syndrome"^^xsd:string) AnnotationAssertion( "familial infantile nephrotic syndrome with ocular abnormalities"^^xsd:string) AnnotationAssertion( "nephrotic syndrome ocular anomalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008300"^^xsd:string) AnnotationAssertion(rdfs:label "Nephrotic Syndrome with Ocular Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pseudo-Zellweger Syndrome) AnnotationAssertion( "MESH:C535818"^^xsd:string) AnnotationAssertion( "Pseudo Zellweger syndrome leukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008301"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudo-Zellweger Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Vertical Nystagmus) AnnotationAssertion( "MIM:164150"^^xsd:string) AnnotationAssertion( "MESH:C537857"^^xsd:string) AnnotationAssertion( "Congenital hereditary vertical nystagmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008302"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Vertical Nystagmus"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES) AnnotationAssertion(Annotation( "MIM:620790"^^xsd:string) "This disease is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-28T12:20:03Z"^^xsd:string) AnnotationAssertion( "DOID:9008904"^^xsd:string) AnnotationAssertion( "MIM:620790"^^xsd:string) AnnotationAssertion( "NEDHS"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008303"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Multiple Coagulation Factor Deficiency V) AnnotationAssertion( "MIM:134520"^^xsd:string) AnnotationAssertion( "MESH:C565023"^^xsd:string) AnnotationAssertion( "FMFD V"^^xsd:string) AnnotationAssertion( "Factors VIII, IX and XI, Combined Deficiency of"^^xsd:string) AnnotationAssertion( "MCFD5"^^xsd:string) AnnotationAssertion( "Multiple Coagulation Factor Deficiency V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008304"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Coagulation Factor Deficiency V"^^xsd:string) SubClassOf( ) # Class: (Talipes Cavus) AnnotationAssertion(Annotation( "MESH:D000070589"^^xsd:string) "A foot deformity in which the arch of the foot is high and often the heel adducted."^^xsd:string) AnnotationAssertion( "MESH:D000070589"^^xsd:string) AnnotationAssertion( "Cavovarus Foot Deformities"^^xsd:string) AnnotationAssertion( "Cavovarus Foot Deformity"^^xsd:string) AnnotationAssertion( "Cavus Deformities"^^xsd:string) AnnotationAssertion( "Cavus Deformity"^^xsd:string) AnnotationAssertion( "Cavus Foot"^^xsd:string) AnnotationAssertion( "High Arched Foot"^^xsd:string) AnnotationAssertion( "Pes Cavus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008305"^^xsd:string) AnnotationAssertion(rdfs:label "Talipes Cavus"^^xsd:string) SubClassOf( ) # Class: (Common Ventricle) AnnotationAssertion(Annotation( "MESH:D000080039"^^xsd:string) "Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two."^^xsd:string) AnnotationAssertion( "RDO:9001096"^^xsd:string) AnnotationAssertion( "MESH:D000080039"^^xsd:string) AnnotationAssertion( "Absence of Interventricular Septum"^^xsd:string) AnnotationAssertion( "Single Ventricle"^^xsd:string) AnnotationAssertion( "Univentricular Heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008306"^^xsd:string) AnnotationAssertion(rdfs:label "Common Ventricle"^^xsd:string) SubClassOf( ) # Class: (Slti Salem Syndrome) AnnotationAssertion( "MESH:C536673"^^xsd:string) AnnotationAssertion( "Hypogonadism and frontoparietal alopecia"^^xsd:string) AnnotationAssertion( "Hypogonadotropic hypogonadism alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008307"^^xsd:string) AnnotationAssertion(rdfs:label "Slti Salem Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Poor Drug Metabolism, CYP2C19-Related) AnnotationAssertion( "MIM:609535"^^xsd:string) AnnotationAssertion( "MESH:C563703"^^xsd:string) AnnotationAssertion( "CLOPIDOGREL, POOR METABOLISM OF"^^xsd:string) AnnotationAssertion( "CYP2C19: DECREASED FUNCTION"^^xsd:string) AnnotationAssertion( "CYP2C19: NO FUNCTION"^^xsd:string) AnnotationAssertion( "CYP2C19: UNCERTAIN FUNCTION"^^xsd:string) AnnotationAssertion( "MEPHENYTOIN, POOR METABOLISM OF"^^xsd:string) AnnotationAssertion( "OMEPRAZOLE, POOR METABOLISM OF"^^xsd:string) AnnotationAssertion( "poor metabolism of proguanil"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008308"^^xsd:string) AnnotationAssertion(rdfs:label "Poor Drug Metabolism, CYP2C19-Related"^^xsd:string) SubClassOf( ) # Class: (Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia) AnnotationAssertion( "MESH:C563617"^^xsd:string) AnnotationAssertion( "RDO:0012830"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008309"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia"^^xsd:string) SubClassOf( ) # Class: (Preaxial Polydactyly IV) AnnotationAssertion( "Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly, the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. Some cases of preaxial polydactyly type IV are caused by heterozygous mutation in the GLI3 gene on chromosome 7p14. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:174700"^^xsd:string) AnnotationAssertion( "MESH:C536333"^^xsd:string) AnnotationAssertion( "PPD4"^^xsd:string) AnnotationAssertion( "preaxial polydactyly 4"^^xsd:string) AnnotationAssertion( "uncomplicated polysyndactyly"^^xsd:string) AnnotationAssertion( "CP1"^^xsd:string) AnnotationAssertion( "CROSSED POLYDACTYLY, TYPE I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008310"^^xsd:string) AnnotationAssertion(rdfs:label "Preaxial Polydactyly IV"^^xsd:string) SubClassOf( ) # Class: (Agammaglobulinemia, non-Bruton type) AnnotationAssertion( "RDO:0003991"^^xsd:string) AnnotationAssertion( "MESH:C538056"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia due to early proB cell defect"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "Agammaglobulinemia, autosomal recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008311"^^xsd:string) AnnotationAssertion(rdfs:label "Agammaglobulinemia, non-Bruton type"^^xsd:string) SubClassOf( ) # Class: (Rombo Syndrome) AnnotationAssertion( "MIM:180730"^^xsd:string) AnnotationAssertion( "MESH:C535870"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008312"^^xsd:string) AnnotationAssertion(rdfs:label "Rombo Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Febrile Neutropenia) AnnotationAssertion(Annotation( "MESH:D064147"^^xsd:string) "Fever accompanied by a significant reduction in the number of NEUTROPHILS."^^xsd:string) AnnotationAssertion( "MESH:D064147"^^xsd:string) AnnotationAssertion( "Febrile Neutropenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008313"^^xsd:string) AnnotationAssertion(rdfs:label "Febrile Neutropenia"^^xsd:string) SubClassOf( ) # Class: (Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant) AnnotationAssertion( "MIM:605827"^^xsd:string) AnnotationAssertion( "MESH:C565284"^^xsd:string) AnnotationAssertion( "GBFHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008314"^^xsd:string) AnnotationAssertion(rdfs:label "Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dilated Cardiomyopathy 2H) AnnotationAssertion(Annotation( "MIM:620203"^^xsd:string) "An autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy. Caused by compound heterozygous mutation in the GET3 gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-01-18T10:25:30Z"^^xsd:string) AnnotationAssertion( "MIM:620203"^^xsd:string) AnnotationAssertion( "CMD2H"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008315"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 2H"^^xsd:string) SubClassOf( ) # Class: (Microphthalmia/Coloboma 1) AnnotationAssertion( "MIM:300345"^^xsd:string) AnnotationAssertion( "MESH:C564531"^^xsd:string) AnnotationAssertion( "MCOPCB1"^^xsd:string) AnnotationAssertion( "colobomatous microphthalmia-1"^^xsd:string) AnnotationAssertion( "isolated colobomatous microphthalmia 1"^^xsd:string) AnnotationAssertion( "isolated microphthalmia with coloboma 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008316"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 1"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 87) AnnotationAssertion(Annotation( "MIM:620500"^^xsd:string) "A male infertility, with total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida. Caused by homozygous mutation in the acrosin gene (ACR) on chromosome 22q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T10:08:57Z"^^xsd:string) AnnotationAssertion( "MIM:620500"^^xsd:string) AnnotationAssertion( "SPGF87"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008317"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 87"^^xsd:string) SubClassOf( ) # Class: (Ectrodactyly Cardiopathy Dysmorphism) AnnotationAssertion( "MESH:C536187"^^xsd:string) AnnotationAssertion( "Ectrodactyly of lower limbs, congenital heart defect and characteristic facies"^^xsd:string) AnnotationAssertion( "Van Den Ende Brunner syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008318"^^xsd:string) AnnotationAssertion(rdfs:label "Ectrodactyly Cardiopathy Dysmorphism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Purpura Simplex) AnnotationAssertion( "MIM:179000"^^xsd:string) AnnotationAssertion( "MESH:C536249"^^xsd:string) AnnotationAssertion( "Hereditary familial purpura simplex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008319"^^xsd:string) AnnotationAssertion(rdfs:label "Purpura Simplex"^^xsd:string) SubClassOf( ) # Class: (Craniosynostosis with Fibular Aplasia) AnnotationAssertion( "MIM:218550"^^xsd:string) AnnotationAssertion( "MESH:C565665"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008320"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis with Fibular Aplasia"^^xsd:string) SubClassOf( ) # Class: (Osteoradionecrosis) AnnotationAssertion(Annotation( "MESH:D010025"^^xsd:string) "Necrosis of bone following radiation injury."^^xsd:string) AnnotationAssertion( "EFO:1001821"^^xsd:string) AnnotationAssertion( "MESH:D010025"^^xsd:string) AnnotationAssertion( "Osteoradionecroses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008321"^^xsd:string) AnnotationAssertion(rdfs:label "Osteoradionecrosis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Epilepsy Telangiectasia) AnnotationAssertion( "MIM:226850"^^xsd:string) AnnotationAssertion( "MESH:C535497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008323"^^xsd:string) AnnotationAssertion(rdfs:label "Epilepsy Telangiectasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Indifference to Pain, Autosomal Recessive) AnnotationAssertion( "MIM:243000"^^xsd:string) AnnotationAssertion( "MESH:C565467"^^xsd:string) AnnotationAssertion( "Asymbolia for Pain"^^xsd:string) AnnotationAssertion( "CIP"^^xsd:string) AnnotationAssertion( "Congenital Analgesia, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "HSAN2D"^^xsd:string) AnnotationAssertion( "hereditary sensory and autonomic neuropathy type IID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008324"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Indifference to Pain, Autosomal Recessive"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death) AnnotationAssertion( "MIM:610001"^^xsd:string) AnnotationAssertion( "MESH:C535381"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008325"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620502"^^xsd:string) "This disease is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-14T11:02:52Z"^^xsd:string) AnnotationAssertion( "MIM:620502"^^xsd:string) AnnotationAssertion( "NEDLC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008326"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bone Cysts) AnnotationAssertion(Annotation( "MESH:D001845"^^xsd:string) "Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years."^^xsd:string) AnnotationAssertion( "MESH:D001845"^^xsd:string) AnnotationAssertion( "RDO:0001863"^^xsd:string) AnnotationAssertion( "Bone Cyst"^^xsd:string) AnnotationAssertion( "Intra Osseous Ganglia"^^xsd:string) AnnotationAssertion( "Intra Osseous Ganglion"^^xsd:string) AnnotationAssertion( "Intra-Osseous Ganglias"^^xsd:string) AnnotationAssertion( "Intra-Osseous Ganglions"^^xsd:string) AnnotationAssertion( "Intraosseous Ganglia"^^xsd:string) AnnotationAssertion( "Intraosseous Ganglias"^^xsd:string) AnnotationAssertion( "Intraosseous Ganglion"^^xsd:string) AnnotationAssertion( "Intraosseous Ganglions"^^xsd:string) AnnotationAssertion( "Solitary Cyst"^^xsd:string) AnnotationAssertion( "Solitary Cysts"^^xsd:string) AnnotationAssertion( "Subchondral Cyst"^^xsd:string) AnnotationAssertion( "Subchondral Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008327"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Cysts"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Osteoma of Cranial Vault) AnnotationAssertion( "MIM:603600"^^xsd:string) AnnotationAssertion( "MESH:C566356"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008328"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Osteoma of Cranial Vault"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Serrated Polyposis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-06-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "Colon Serrated Polyposis"^^xsd:string) AnnotationAssertion( "Serrated polyp of colon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Serrated Polyposis Syndrome"^^xsd:string) AnnotationAssertion( "DOID:9008330"^^xsd:string) AnnotationAssertion(rdfs:label "Serrated Polyposis"^^xsd:string) SubClassOf( ) # Class: (Tendon Injuries) AnnotationAssertion(Annotation( "MESH:D013708"^^xsd:string) "Injuries to the fibrous cords of connective tissue which attach muscles to bones or other structures."^^xsd:string) AnnotationAssertion( "EFO:0600078"^^xsd:string) AnnotationAssertion( "MESH:D013708"^^xsd:string) AnnotationAssertion( "Tendon Injury"^^xsd:string) AnnotationAssertion( "Achilles tendon injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008331"^^xsd:string) AnnotationAssertion(rdfs:label "Tendon Injuries"^^xsd:string) SubClassOf( ) # Class: (Palmoplantar Keratoderma, Spastic Paralysis) AnnotationAssertion( "GARD:3095"^^xsd:string) AnnotationAssertion( "MESH:C536153"^^xsd:string) AnnotationAssertion( "MIM:148360"^^xsd:string) AnnotationAssertion( "MONDO:0016353"^^xsd:string) AnnotationAssertion( "ORDO:2201"^^xsd:string) AnnotationAssertion( "Axonal neuropathy with palmoplantar keratoderma"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy"^^xsd:string) AnnotationAssertion( "Powell-Venencie-Gordon syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar hyperkeratosis-spastic paralysis syndrome"^^xsd:string) AnnotationAssertion( "palmoplantar keratoderma with nail dystrophy and hereditary motor-sensory neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008332"^^xsd:string) AnnotationAssertion(rdfs:label "Palmoplantar Keratoderma, Spastic Paralysis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-07T11:25:15Z"^^xsd:string) AnnotationAssertion( "MIM:618845"^^xsd:string) AnnotationAssertion( "NADSYN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "VCRL3"^^xsd:string) AnnotationAssertion( "congenital NAD deficiency disorder 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008333"^^xsd:string) AnnotationAssertion(rdfs:label "Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Striatonigral Degeneration, Infantile) AnnotationAssertion( "MIM:271930"^^xsd:string) AnnotationAssertion( "MESH:C537500"^^xsd:string) AnnotationAssertion( "IBSN"^^xsd:string) AnnotationAssertion( "SNDI"^^xsd:string) AnnotationAssertion( "familial striatal degeneration"^^xsd:string) AnnotationAssertion( "infantile bilateral striatal necrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008334"^^xsd:string) AnnotationAssertion(rdfs:label "Striatonigral Degeneration, Infantile"^^xsd:string) SubClassOf( ) # Class: (Mesomycetozoea Infections) AnnotationAssertion(Annotation( "MESH:D050738"^^xsd:string) "Infections by MESOMYCETOZOEA, general or unspecified."^^xsd:string) AnnotationAssertion( "MESH:D050738"^^xsd:string) AnnotationAssertion( "Mesomycetozoea Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008335"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomycetozoea Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Split-Foot Malformation with Mesoaxial Polydactyly) AnnotationAssertion( "MIM:616890"^^xsd:string) AnnotationAssertion( "SFMMP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008338"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Foot Malformation with Mesoaxial Polydactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tension-Type Headache) AnnotationAssertion(Annotation( "MESH:D018781"^^xsd:string) "A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"^^xsd:string) AnnotationAssertion( "MESH:D018781"^^xsd:string) AnnotationAssertion( "RDO:0007231"^^xsd:string) AnnotationAssertion( "Idiopathic Headache"^^xsd:string) AnnotationAssertion( "Idiopathic Headaches"^^xsd:string) AnnotationAssertion( "Psychogenic Headache"^^xsd:string) AnnotationAssertion( "Psychogenic Headaches"^^xsd:string) AnnotationAssertion( "Stress Headache"^^xsd:string) AnnotationAssertion( "Stress Headaches"^^xsd:string) AnnotationAssertion( "Tension Headache"^^xsd:string) AnnotationAssertion( "Tension Headaches"^^xsd:string) AnnotationAssertion( "Tension Vascular Headache"^^xsd:string) AnnotationAssertion( "Tension-Type Headaches"^^xsd:string) AnnotationAssertion( "Tension-Vascular Headaches"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008339"^^xsd:string) AnnotationAssertion(rdfs:label "Tension-Type Headache"^^xsd:string) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency, 2) AnnotationAssertion( "MIM:262600"^^xsd:string) AnnotationAssertion( "MESH:C563172"^^xsd:string) AnnotationAssertion( "COMBINED PITUITARY HORMONE DEFICIENCY TYPE 2"^^xsd:string) AnnotationAssertion( "COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE"^^xsd:string) AnnotationAssertion( "CPHD2"^^xsd:string) AnnotationAssertion( "Hanhart Dwarfism"^^xsd:string) AnnotationAssertion( "ateliotic dwarfism with hypogonadism"^^xsd:string) AnnotationAssertion( "pituitary dwarfism III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008340"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency, 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY) AnnotationAssertion(Annotation( "MIM:619221"^^xsd:string) "This is a disease characterized by a variable phenotype ranging from no clinical symptoms (most patients) to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-16T12:23:33Z"^^xsd:string) AnnotationAssertion( "MIM:619221"^^xsd:string) AnnotationAssertion( "SQORD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008341"^^xsd:string) AnnotationAssertion(rdfs:label "SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY"^^xsd:string) SubClassOf( ) # Class: (Johnson Munson Syndrome) AnnotationAssertion( "MIM:207620"^^xsd:string) AnnotationAssertion( "MESH:C535881"^^xsd:string) AnnotationAssertion( "RDO:0001235"^^xsd:string) AnnotationAssertion( "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations"^^xsd:string) AnnotationAssertion( "Aphalangy with Hemivertebrae"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008342"^^xsd:string) AnnotationAssertion(rdfs:label "Johnson Munson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Camptodactyly Syndrome Guadalajara Type 3) AnnotationAssertion( "MIM:611929"^^xsd:string) AnnotationAssertion( "GARD:10573"^^xsd:string) AnnotationAssertion( "MESH:C567455"^^xsd:string) AnnotationAssertion( "Camptodactyly Syndrome, Guadalajara, Type III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008343"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Syndrome Guadalajara Type 3"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Invasive Breast Carcinoma) AnnotationAssertion(Annotation( "NCI:C9245"^^xsd:string) "This is a carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-03T16:49:30Z"^^xsd:string) AnnotationAssertion( "EFO:1000307"^^xsd:string) AnnotationAssertion( "infiltrating breast cancer"^^xsd:string) AnnotationAssertion( "infiltrating carcinoma of breast"^^xsd:string) AnnotationAssertion( "invasive breast cancer"^^xsd:string) AnnotationAssertion( "invasive carcinoma of the breast"^^xsd:string) AnnotationAssertion( "invasive mammary carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008344"^^xsd:string) AnnotationAssertion(rdfs:label "Invasive Breast Carcinoma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY) AnnotationAssertion( "An autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "KIDINS220-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617296"^^xsd:string) AnnotationAssertion( "SINO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008346"^^xsd:string) AnnotationAssertion(rdfs:label "SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Benign Neonatal Epilepsy 1, and/or Myokymia) AnnotationAssertion( "MESH:C567743"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008347"^^xsd:string) AnnotationAssertion(rdfs:label "Benign Neonatal Epilepsy 1, and/or Myokymia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Male Urogenital Diseases) AnnotationAssertion(Annotation( "MESH:D052801"^^xsd:string) "Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE)."^^xsd:string) AnnotationAssertion( "MESH:D052801"^^xsd:string) AnnotationAssertion( "Male Genitourinary Disease"^^xsd:string) AnnotationAssertion( "Male Genitourinary Diseases"^^xsd:string) AnnotationAssertion( "Male Urogenital Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008348"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Male Urogenital Diseases"^^xsd:string) SubClassOf( ) # Class: (NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT) AnnotationAssertion(Annotation( "MIM:620306"^^xsd:string) "This disease is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-06-20T09:15:41Z"^^xsd:string) AnnotationAssertion( "MIM:620306"^^xsd:string) AnnotationAssertion( "NSCT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008349"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (NATURAL KILLER CELL ENTEROPATHY) AnnotationAssertion(Annotation( "url:https://www.nlm.nih.gov/healthit/snomedct/us_edition.html"^^xsd:string) "A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-14T12:52:02Z"^^xsd:string) AnnotationAssertion( "NK (natural killer) cell enteropathy"^^xsd:string) AnnotationAssertion( "NK-cell enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008350"^^xsd:string) AnnotationAssertion(rdfs:label "NATURAL KILLER CELL ENTEROPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Febrile Seizures Associated with Afebrile Seizures) AnnotationAssertion( "MESH:C565813"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008351"^^xsd:string) AnnotationAssertion(rdfs:label "Febrile Seizures Associated with Afebrile Seizures"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Abnormal Neutrophil Chemotactic Response) AnnotationAssertion( "MESH:C563515"^^xsd:string) AnnotationAssertion( "NCR"^^xsd:string) AnnotationAssertion( "NM"^^xsd:string) AnnotationAssertion( "abnormal leukocyte motility"^^xsd:string) AnnotationAssertion( "abnormal neutrophil migration"^^xsd:string) AnnotationAssertion( "abnormal neutrophil motility"^^xsd:string) AnnotationAssertion( "neutrophil chemotactic response"^^xsd:string) AnnotationAssertion( "neutrophil migration"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008353"^^xsd:string) AnnotationAssertion(rdfs:label "Abnormal Neutrophil Chemotactic Response"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Secretory Component Deficiency) AnnotationAssertion( "MIM:269650"^^xsd:string) AnnotationAssertion( "RDO:0012403"^^xsd:string) AnnotationAssertion( "MESH:C562869"^^xsd:string) AnnotationAssertion( "secretory IgA deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008354"^^xsd:string) AnnotationAssertion(rdfs:label "Secretory Component Deficiency"^^xsd:string) SubClassOf( ) # Class: (Adrenocortical Hypofunction, Chronic Primary Congenital) AnnotationAssertion( "MIM:103230"^^xsd:string) AnnotationAssertion( "MESH:C562711"^^xsd:string) AnnotationAssertion( "Congenital Addison Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008355"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenocortical Hypofunction, Chronic Primary Congenital"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T14:23:29Z"^^xsd:string) AnnotationAssertion( "MIM:PS614742"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008357"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Radioulnar Synostosis Retinal Pigment Abnormalities) AnnotationAssertion( "MESH:C536270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008358"^^xsd:string) AnnotationAssertion(rdfs:label "Radioulnar Synostosis Retinal Pigment Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Acute Pain) AnnotationAssertion(Annotation( "MESH:D059787"^^xsd:string) "Intensely discomforting, distressful, or agonizing sensation associated with trauma or disease, with well-defined location, character, and timing."^^xsd:string) AnnotationAssertion( "MESH:D059787"^^xsd:string) AnnotationAssertion( "Acute Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008359"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Pain"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Eye Foreign Bodies) AnnotationAssertion(Annotation( "MESH:D005129"^^xsd:string) "Inanimate objects that become enclosed in the eye."^^xsd:string) AnnotationAssertion( "EFO:1001322"^^xsd:string) AnnotationAssertion( "MESH:D005129"^^xsd:string) AnnotationAssertion( "RDO:0005556"^^xsd:string) AnnotationAssertion( "Eye Foreign Body"^^xsd:string) AnnotationAssertion( "Eye Foreign Object"^^xsd:string) AnnotationAssertion( "Eye Foreign Objects"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008361"^^xsd:string) AnnotationAssertion(rdfs:label "Eye Foreign Bodies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-09T11:12:04Z"^^xsd:string) AnnotationAssertion( "EFO:0010260"^^xsd:string) AnnotationAssertion( "MIM:618330"^^xsd:string) AnnotationAssertion( "GDDI"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008363"^^xsd:string) AnnotationAssertion(rdfs:label "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 7, Autosomal) AnnotationAssertion( "MIM:616749"^^xsd:string) AnnotationAssertion( "HTX7"^^xsd:string) AnnotationAssertion( "MMP21-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008364"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 7, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Pseudoacromegaly with Severe Insulin Resistance) AnnotationAssertion( "MIM:602511"^^xsd:string) AnnotationAssertion( "MESH:C566531"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008365"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudoacromegaly with Severe Insulin Resistance"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Meningococcal Infections) AnnotationAssertion(Annotation( "MESH:D008589"^^xsd:string) "Infections with bacteria of the species NEISSERIA MENINGITIDIS."^^xsd:string) AnnotationAssertion( "EFO:0004249"^^xsd:string) AnnotationAssertion( "MESH:D008589"^^xsd:string) AnnotationAssertion( "RDO:0006108"^^xsd:string) AnnotationAssertion( "Meningococcal Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008366"^^xsd:string) AnnotationAssertion(rdfs:label "Meningococcal Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bird Headed Dwarfism Montreal Type) AnnotationAssertion( "MIM:210700"^^xsd:string) AnnotationAssertion( "MESH:C535448"^^xsd:string) AnnotationAssertion( "Bird-headed dwarfism with features of premature senility"^^xsd:string) AnnotationAssertion( "MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008368"^^xsd:string) AnnotationAssertion(rdfs:label "Bird Headed Dwarfism Montreal Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudomonilethrix) AnnotationAssertion( "MIM:177750"^^xsd:string) AnnotationAssertion( "MESH:C562988"^^xsd:string) AnnotationAssertion( "pseudo-monilethrix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008369"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudomonilethrix"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY) AnnotationAssertion(Annotation( "EFO:0010560"^^xsd:string) "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-03T14:10:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010560"^^xsd:string) AnnotationAssertion( "MIM:618569"^^xsd:string) AnnotationAssertion( "NEDAHM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008370"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Carnitine Acetyltransferase Deficiency) AnnotationAssertion( "MIM:606175"^^xsd:string) AnnotationAssertion( "MESH:C563249"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008371"^^xsd:string) AnnotationAssertion(rdfs:label "Carnitine Acetyltransferase Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cervicofacial Actinomycosis) AnnotationAssertion(Annotation( "MESH:D000197"^^xsd:string) "A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses."^^xsd:string) AnnotationAssertion( "EFO:0007203"^^xsd:string) AnnotationAssertion( "MESH:D000197"^^xsd:string) AnnotationAssertion( "cervicofacial actinomycoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008372"^^xsd:string) AnnotationAssertion(rdfs:label "Cervicofacial Actinomycosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Conjoined Twins) AnnotationAssertion(Annotation( "MESH:D014428"^^xsd:string) "MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, more fully developed twin."^^xsd:string) AnnotationAssertion( "MESH:D014428"^^xsd:string) AnnotationAssertion( "Conjoined Twin"^^xsd:string) AnnotationAssertion( "Siamese Twin"^^xsd:string) AnnotationAssertion( "Siamese Twins"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008373"^^xsd:string) AnnotationAssertion(rdfs:label "Conjoined Twins"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9, Duplication 9q21) AnnotationAssertion( "MESH:C538023"^^xsd:string) AnnotationAssertion( "RDO:0003957"^^xsd:string) AnnotationAssertion( "Disomy 9q21"^^xsd:string) AnnotationAssertion( "Duplication 9q21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008374"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Duplication 9q21"^^xsd:string) SubClassOf( ) # Class: (finger fractures) AnnotationAssertion(Annotation( "NCI:C27072"^^xsd:string) "These are traumatic breaks in one or more of the bones in one of the digits of the hand."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-02-16T10:31:39Z"^^xsd:string) AnnotationAssertion( "EFO:0009616"^^xsd:string) AnnotationAssertion( "broken finger"^^xsd:string) AnnotationAssertion( "finger fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008375"^^xsd:string) AnnotationAssertion(rdfs:label "finger fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brachydactylous Dwarfism Mseleni Type) AnnotationAssertion( "MIM:613342"^^xsd:string) AnnotationAssertion( "MESH:C537086"^^xsd:string) AnnotationAssertion( "Brachydactylous dwarfs of Mseleni"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008376"^^xsd:string) AnnotationAssertion(rdfs:label "Brachydactylous Dwarfism Mseleni Type"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Psychological Trauma) AnnotationAssertion(Annotation( "MESH:D000067073"^^xsd:string) "Overwhelming emotional damage caused by a distressful event or series of events."^^xsd:string) AnnotationAssertion( "MESH:D000067073"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008377"^^xsd:string) AnnotationAssertion(rdfs:label "Psychological Trauma"^^xsd:string) SubClassOf( ) # Class: (Adipose Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D018205"^^xsd:string) "Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue."^^xsd:string) AnnotationAssertion( "RDO:0006016"^^xsd:string) AnnotationAssertion( "MESH:D018205"^^xsd:string) AnnotationAssertion( "Adipose Tissue Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008378"^^xsd:string) AnnotationAssertion(rdfs:label "Adipose Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Say Field Coldwell Syndrome) AnnotationAssertion( "MIM:190650"^^xsd:string) AnnotationAssertion( "MESH:C536619"^^xsd:string) AnnotationAssertion( "Triphalangeal thumbs and dislocation of patella"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008379"^^xsd:string) AnnotationAssertion(rdfs:label "Say Field Coldwell Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Radial Ray Deficiency, X-Linked) AnnotationAssertion( "MIM:300378"^^xsd:string) AnnotationAssertion( "MESH:C564523"^^xsd:string) AnnotationAssertion( "RDO:0013460"^^xsd:string) AnnotationAssertion( "RRDX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008380"^^xsd:string) AnnotationAssertion(rdfs:label "Radial Ray Deficiency, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Brain Damage) AnnotationAssertion(Annotation( "MESH:D001925"^^xsd:string) "A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions."^^xsd:string) AnnotationAssertion( "MESH:D001925"^^xsd:string) AnnotationAssertion( "Chronic Encephalopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008381"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Brain Damage"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9, Trisomy Mosaic) AnnotationAssertion( "MESH:C535454"^^xsd:string) AnnotationAssertion( "RDO:0000574"^^xsd:string) AnnotationAssertion( "Trisomy 9 mosaic"^^xsd:string) AnnotationAssertion( "Trisomy 9 mosaicism"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008382"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Trisomy Mosaic"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6) AnnotationAssertion(Annotation( "MIM:620796"^^xsd:string) "This disease is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-17T12:32:57Z"^^xsd:string) AnnotationAssertion( "MIM:620796"^^xsd:string) AnnotationAssertion( "PRAAS6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008383"^^xsd:string) AnnotationAssertion(rdfs:label "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6"^^xsd:string) SubClassOf( ) # Class: (Tonsillar Neoplasms) AnnotationAssertion(Annotation( "MESH:D014067"^^xsd:string) "Tumors or cancer of the PALATINE TONSIL."^^xsd:string) AnnotationAssertion( "MESH:D014067"^^xsd:string) AnnotationAssertion( "NCI:C3417"^^xsd:string) AnnotationAssertion( "Tonsil Neoplasm"^^xsd:string) AnnotationAssertion( "Tonsil Neoplasms"^^xsd:string) AnnotationAssertion( "Tonsillar Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008384"^^xsd:string) AnnotationAssertion(rdfs:label "Tonsillar Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Vomiting) AnnotationAssertion(Annotation( "MESH:D014839"^^xsd:string) "The forcible expulsion of the contents of the STOMACH through the MOUTH."^^xsd:string) AnnotationAssertion( "MESH:D014839"^^xsd:string) AnnotationAssertion( "Emesis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008385"^^xsd:string) AnnotationAssertion(rdfs:label "Vomiting"^^xsd:string) SubClassOf( ) # Class: (Hydrops Fetalis) AnnotationAssertion(Annotation( "MESH:D015160"^^xsd:string) "Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS."^^xsd:string) AnnotationAssertion( "MIM:236750"^^xsd:string) AnnotationAssertion( "EFO:0009051"^^xsd:string) AnnotationAssertion( "MESH:D015160"^^xsd:string) AnnotationAssertion( "NCI:C84767"^^xsd:string) AnnotationAssertion( "Fetal Hydrops"^^xsd:string) AnnotationAssertion( "Hydrops Fetalis Nonimmune"^^xsd:string) AnnotationAssertion( "Idiopathic Hydrops Fetali"^^xsd:string) AnnotationAssertion( "Idiopathic Hydrops Fetalis"^^xsd:string) AnnotationAssertion( "Immune Hydrops Fetalis"^^xsd:string) AnnotationAssertion( "NIHF"^^xsd:string) AnnotationAssertion( "familial non immune hydrops fetalis"^^xsd:string) AnnotationAssertion( "fetal edema"^^xsd:string) AnnotationAssertion( "non-immune hydrops fetalis"^^xsd:string) AnnotationAssertion( "nonimmune hydrops fetali"^^xsd:string) AnnotationAssertion( "HEMOGLOBIN H HYDROPS FETALIS SYNDROME"^^xsd:string) AnnotationAssertion( "HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED"^^xsd:string) AnnotationAssertion( "MYOM1-RELATED NON-IMMUNE FETAL HYDROPS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008386"^^xsd:string) AnnotationAssertion(rdfs:label "Hydrops Fetalis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Selective Tooth Agenesis 9) AnnotationAssertion( "MIM:617275"^^xsd:string) AnnotationAssertion( "STHAG9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008387"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 9"^^xsd:string) SubClassOf( ) # Class: (Trigonocephaly 1) AnnotationAssertion( "MIM:190440"^^xsd:string) AnnotationAssertion( "TRIGNO1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008388"^^xsd:string) AnnotationAssertion(rdfs:label "Trigonocephaly 1"^^xsd:string) SubClassOf( ) # Class: (Dentin Dysplasia, Type 2) AnnotationAssertion( "RDO:0007950"^^xsd:string) AnnotationAssertion( "MIM:125420"^^xsd:string) AnnotationAssertion( "DTDP2"^^xsd:string) AnnotationAssertion( "coronal dentin dysplasia"^^xsd:string) AnnotationAssertion( "dentin dysplasia, Shields type 2"^^xsd:string) AnnotationAssertion( "dentin dysplasia, Shields type II"^^xsd:string) AnnotationAssertion( "dentin dysplasia, type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008389"^^xsd:string) AnnotationAssertion(rdfs:label "Dentin Dysplasia, Type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gas Bloat Syndrome) AnnotationAssertion( "MESH:C535647"^^xsd:string) AnnotationAssertion( "Post-fundoplication syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008390"^^xsd:string) AnnotationAssertion(rdfs:label "Gas Bloat Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bilateral Striatal Necrosis with Dystonia) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008391"^^xsd:string) AnnotationAssertion(rdfs:label "Bilateral Striatal Necrosis with Dystonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Y Chromosome Infertility) AnnotationAssertion( "MESH:C580551"^^xsd:string) AnnotationAssertion( "RDO:0015939"^^xsd:string) AnnotationAssertion( "Y Chromosome-Related Azoospermia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008392"^^xsd:string) AnnotationAssertion(rdfs:label "Y Chromosome Infertility"^^xsd:string) SubClassOf( ) # Class: (Spinocerebellar Ataxia and Plaque-Like Deposits) AnnotationAssertion( "MESH:C566671"^^xsd:string) AnnotationAssertion( "RDO:0014967"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008393"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia and Plaque-Like Deposits"^^xsd:string) SubClassOf( ) # Class: (Drug-Induced Dyskinesia) AnnotationAssertion(Annotation( "MESH:D004409"^^xsd:string) "Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)"^^xsd:string) AnnotationAssertion( "EFO:1000904"^^xsd:string) AnnotationAssertion( "MESH:D004409"^^xsd:string) AnnotationAssertion( "Drug-Induced Dyskinesias"^^xsd:string) AnnotationAssertion( "Medication Induced Dyskinesia"^^xsd:string) AnnotationAssertion( "Medication-Induced Dyskinesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008394"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Dyskinesia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Kozlowski Tsuruta Taki Syndrome) AnnotationAssertion( "MESH:C537510"^^xsd:string) AnnotationAssertion( "Achondrogenesis-Kozlowski type"^^xsd:string) AnnotationAssertion( "Chondrodysplasia, lethal neonatal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008395"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski Tsuruta Taki Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Erythropoietic Protoporphyria, X-Linked Dominant) AnnotationAssertion( "MIM:300752"^^xsd:string) AnnotationAssertion( "ALAS2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009064"^^xsd:string) AnnotationAssertion( "MESH:C567464"^^xsd:string) AnnotationAssertion( "ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED"^^xsd:string) AnnotationAssertion( "XLDPP"^^xsd:string) AnnotationAssertion( "XLDPT"^^xsd:string) AnnotationAssertion( "XLEPP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008396"^^xsd:string) AnnotationAssertion(rdfs:label "Erythropoietic Protoporphyria, X-Linked Dominant"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Maternal Phenylketonuria) AnnotationAssertion(Annotation( "MESH:D017042"^^xsd:string) "A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)"^^xsd:string) AnnotationAssertion( "MESH:D017042"^^xsd:string) AnnotationAssertion( "Maternal Phenylalanine Hydroxylase Deficiency Disease"^^xsd:string) AnnotationAssertion( "PKU, Maternal"^^xsd:string) AnnotationAssertion( "Pregnancy in Phenylketonuria"^^xsd:string) AnnotationAssertion( "Pregnancy in Phenylketonurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008397"^^xsd:string) AnnotationAssertion(rdfs:label "Maternal Phenylketonuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Spermatogenic Failure 82) AnnotationAssertion(Annotation( "MIM:620353"^^xsd:string) "A male infertility due to multiple morphologic abnormalities of the sperm flagella. Caused by homozygous mutation in the AKAP3 gene on chromosome 12p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-28T09:54:30Z"^^xsd:string) AnnotationAssertion( "MIM:620353"^^xsd:string) AnnotationAssertion( "SPGF82"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008398"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 82"^^xsd:string) SubClassOf( ) # Class: (FINCA Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-13T12:23:12Z"^^xsd:string) AnnotationAssertion( "MIM:618278"^^xsd:string) AnnotationAssertion( "FINCA"^^xsd:string) AnnotationAssertion( "fibrosis, neurodegeneration, and cerebral angiomatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008399"^^xsd:string) AnnotationAssertion(rdfs:label "FINCA Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oculocerebral Hypopigmentation Syndrome Type Preus) AnnotationAssertion( "MESH:C537866"^^xsd:string) AnnotationAssertion( "MIM:257790"^^xsd:string) AnnotationAssertion( "MIM:257800"^^xsd:string) AnnotationAssertion( "MONDO:0009766"^^xsd:string) AnnotationAssertion( "Cross syndrome"^^xsd:string) AnnotationAssertion( "Kramer Syndrome"^^xsd:string) AnnotationAssertion( "oculocerebral hypopigmentation syndrome of Preus"^^xsd:string) AnnotationAssertion( "oculocerebral syndrome with hypopigmentation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008400"^^xsd:string) AnnotationAssertion(rdfs:label "Oculocerebral Hypopigmentation Syndrome Type Preus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Herpes Simplex Encephalitis 4) AnnotationAssertion( "MIM:614850"^^xsd:string) AnnotationAssertion( "IIAE6"^^xsd:string) AnnotationAssertion( "acute encephalopathy, infection-induced (herpes-specific), susceptibility to, 6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Herpes Simplex Encephalitis, Susceptibility To, 4"^^xsd:string) AnnotationAssertion( "acute encephalopathy, infection-induced, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "DOID:9008401"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Simplex Encephalitis 4"^^xsd:string) SubClassOf( ) # Class: (Cyprus Facial Neuromusculoskeletal Syndrome) AnnotationAssertion( "MIM:123853"^^xsd:string) AnnotationAssertion( "MESH:C536229"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008402"^^xsd:string) AnnotationAssertion(rdfs:label "Cyprus Facial Neuromusculoskeletal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Combined Pituitary Hormone Deficiency 4) AnnotationAssertion( "MIM:262700"^^xsd:string) AnnotationAssertion( "MESH:C567492"^^xsd:string) AnnotationAssertion( "CPHD4"^^xsd:string) AnnotationAssertion( "combined pituitary hormone deficiency with or without cerebellar defects"^^xsd:string) AnnotationAssertion( "short stature, pituitary and cerebellar defects, and small sella turcica"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008403"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Pituitary Hormone Deficiency 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kousseff Nichols Syndrome) AnnotationAssertion( "MESH:C537504"^^xsd:string) AnnotationAssertion( "RDO:0003355"^^xsd:string) AnnotationAssertion( "Noonan like contracture myopathy hyperpyrexia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008404"^^xsd:string) AnnotationAssertion(rdfs:label "Kousseff Nichols Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Mitochondrial Complex II Deficiency Nuclear Type 2) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-01T15:47:00Z"^^xsd:string) AnnotationAssertion( "MIM:619166"^^xsd:string) AnnotationAssertion( "MC2DN2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008405"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Complex II Deficiency Nuclear Type 2"^^xsd:string) SubClassOf( ) # Class: (Congenital Deafness and Familial Myoclonic Epilepsy) AnnotationAssertion( "MIM:220300"^^xsd:string) AnnotationAssertion( "MESH:C565649"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008406"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Deafness and Familial Myoclonic Epilepsy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED) AnnotationAssertion( "MIM:300643"^^xsd:string) AnnotationAssertion( "MESH:C564467"^^xsd:string) AnnotationAssertion( "RESDX"^^xsd:string) AnnotationAssertion( "Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked"^^xsd:string) AnnotationAssertion( "SRPX2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "X-linked Rolandic epilepsy with mental retardation and speech dyspraxia"^^xsd:string) AnnotationAssertion( "X-linked Rolandic epilepsy, impaired intellectual development, and speech dyspraxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008407"^^xsd:string) AnnotationAssertion(rdfs:label "ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mesomelic Limb Shortening and Bowing) AnnotationAssertion( "MIM:249710"^^xsd:string) AnnotationAssertion( "MESH:C565404"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008408"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Limb Shortening and Bowing"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pelvic Organ Prolapse) AnnotationAssertion(Annotation( "MESH:D056887"^^xsd:string) "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE."^^xsd:string) AnnotationAssertion( "MIM:176780"^^xsd:string) AnnotationAssertion( "MIM:613088"^^xsd:string) AnnotationAssertion( "EFO:0004710"^^xsd:string) AnnotationAssertion( "MESH:D056887"^^xsd:string) AnnotationAssertion( "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "PROLAPSE OF VAGINA AND RECTUM"^^xsd:string) AnnotationAssertion( "PVOP1"^^xsd:string) AnnotationAssertion( "PVOP2"^^xsd:string) AnnotationAssertion( "Urogenital Prolapse"^^xsd:string) AnnotationAssertion( "Urogenital Prolapses"^^xsd:string) AnnotationAssertion( "VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "Vaginal Vault Prolapse"^^xsd:string) AnnotationAssertion( "pelvic organ prolapses"^^xsd:string) AnnotationAssertion( "vaginal vault prolapses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008409"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Organ Prolapse"^^xsd:string) SubClassOf( ) # Class: (Autoinflammation with Infantile Enterocolitis) AnnotationAssertion( "Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy."^^xsd:string) AnnotationAssertion( "MIM:616050"^^xsd:string) AnnotationAssertion( "AIFEC"^^xsd:string) AnnotationAssertion( "SYNDROME OF ENTERCOLITIS AND AUTOINFLMMATION CAUSED BY MUTATION OF NLRC4 (SCAN4)"^^xsd:string) AnnotationAssertion( "Syndrome Of Enterocolitis And Autoinflammation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008410"^^xsd:string) AnnotationAssertion(rdfs:label "Autoinflammation with Infantile Enterocolitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Polyarteritis Nodosa, Childhood-Onset) AnnotationAssertion( "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some patients present with clinical immunodeficiency. VAIHS is caused by homozygous or compound heterozygous mutation in the ADA2 gene (CECR1) on chromosome 22q11. (OMIM)"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF ADENOSINE DEAMINASE 2"^^xsd:string) AnnotationAssertion( "EFO:0009295"^^xsd:string) AnnotationAssertion( "MIM:615688"^^xsd:string) AnnotationAssertion( "ADA2 Deficiency"^^xsd:string) AnnotationAssertion( "ADENOSINE DEAMINASE 2 DEFICIENCY"^^xsd:string) AnnotationAssertion( "DADA2"^^xsd:string) AnnotationAssertion( "PAN"^^xsd:string) AnnotationAssertion( "VAIHS"^^xsd:string) AnnotationAssertion( "VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "POLYARTERITIS NODOSA, CHILDHOOOD-ONSET"^^xsd:string) AnnotationAssertion( "DOID:9008412"^^xsd:string) AnnotationAssertion(rdfs:label "Polyarteritis Nodosa, Childhood-Onset"^^xsd:string) SubClassOf( ) # Class: (Oligoanuria) AnnotationAssertion( "Oliguria in which there is temporary anuria (complete cessation of urinary flow)."^^xsd:string) AnnotationAssertion( "RDO:9000077"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008413"^^xsd:string) AnnotationAssertion(rdfs:label "Oligoanuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Contusion) AnnotationAssertion( "Traumatic injury to the lung, resulting in hemorrhage."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "lung contusion"^^xsd:string) AnnotationAssertion( "lung contusions"^^xsd:string) AnnotationAssertion( "pulmonary contusions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008414"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Contusion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY) AnnotationAssertion(Annotation( "MIM:610600"^^xsd:string) "This disease is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-29T10:41:43Z"^^xsd:string) AnnotationAssertion( "CYP11B2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "FAMILIAL HYPOALDOSTERONISM"^^xsd:string) AnnotationAssertion( "MIM:610600"^^xsd:string) AnnotationAssertion( "ALDOSTERONE DEFICIENCY II"^^xsd:string) AnnotationAssertion( "CMO II DEFICIENCY"^^xsd:string) AnnotationAssertion( "FHHA1B"^^xsd:string) AnnotationAssertion( "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1B"^^xsd:string) AnnotationAssertion( "Hypoaldosteronism, congenital, due to CMO II deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008415"^^xsd:string) AnnotationAssertion(rdfs:label "CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cerebral Cortical Thinning) AnnotationAssertion( "Decrease in CEREBRAL CORTICAL THICKNESS. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T21:06:10Z"^^xsd:string) AnnotationAssertion( "MESH:D000082643"^^xsd:string) AnnotationAssertion( "Cortical Thinning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008416"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebral Cortical Thinning"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pruritus, Hereditary Localized) AnnotationAssertion( "MIM:177100"^^xsd:string) AnnotationAssertion( "MESH:C566754"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008417"^^xsd:string) AnnotationAssertion(rdfs:label "Pruritus, Hereditary Localized"^^xsd:string) SubClassOf( ) # Class: (Adnexal and Skin Appendage Neoplasms) AnnotationAssertion(Annotation( "MESH:D018294"^^xsd:string) "Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages."^^xsd:string) AnnotationAssertion( "RDO:0005802"^^xsd:string) AnnotationAssertion( "MESH:D018294"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008418"^^xsd:string) AnnotationAssertion(rdfs:label "Adnexal and Skin Appendage Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Volvulus Of Midgut) AnnotationAssertion( "MESH:C562456"^^xsd:string) AnnotationAssertion( "RDO:0012176"^^xsd:string) AnnotationAssertion( "Intestinal Malrotation, Familial"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008419"^^xsd:string) AnnotationAssertion(rdfs:label "Volvulus Of Midgut"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Erythroleukemia) AnnotationAssertion( "MIM:133180"^^xsd:string) AnnotationAssertion( "MESH:C565039"^^xsd:string) AnnotationAssertion( "acute myelogenous leukemia, M6"^^xsd:string) AnnotationAssertion( "familial Di Guglielmo disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008420"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Erythroleukemia"^^xsd:string) SubClassOf( ) # Class: (Epistaxis) AnnotationAssertion(Annotation( "MESH:D004844"^^xsd:string) "Bleeding from the nose."^^xsd:string) AnnotationAssertion( "EFO:0003895"^^xsd:string) AnnotationAssertion( "MESH:D004844"^^xsd:string) AnnotationAssertion( "Nasal Bleeding"^^xsd:string) AnnotationAssertion( "Nasal Bleedings"^^xsd:string) AnnotationAssertion( "Nose Bleed"^^xsd:string) AnnotationAssertion( "Nose Bleeds"^^xsd:string) AnnotationAssertion( "Nosebleed"^^xsd:string) AnnotationAssertion( "SPONTANEOUS, RECURRENT EPISTAXIS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008421"^^xsd:string) AnnotationAssertion(rdfs:label "Epistaxis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nanophthalmos 4) AnnotationAssertion( "MIM:615972"^^xsd:string) AnnotationAssertion( "NANOPHTHALMIA 4"^^xsd:string) AnnotationAssertion( "NNO4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008422"^^xsd:string) AnnotationAssertion(rdfs:label "Nanophthalmos 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Milner Khallouf Gibson Syndrome) AnnotationAssertion( "MESH:C537473"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008423"^^xsd:string) AnnotationAssertion(rdfs:label "Milner Khallouf Gibson Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Fowlpox) AnnotationAssertion(Annotation( "MESH:D005586"^^xsd:string) "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts."^^xsd:string) AnnotationAssertion( "MESH:D005586"^^xsd:string) AnnotationAssertion( "Bird Pox"^^xsd:string) AnnotationAssertion( "Birdpox"^^xsd:string) AnnotationAssertion( "Epithelioma Contagiosum"^^xsd:string) AnnotationAssertion( "Fowl Diphtheria"^^xsd:string) AnnotationAssertion( "Fowl Diphtherias"^^xsd:string) AnnotationAssertion( "Fowl Pox"^^xsd:string) AnnotationAssertion( "Variola Avium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008424"^^xsd:string) AnnotationAssertion(rdfs:label "Fowlpox"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Fatty Liver of Pregnancy) AnnotationAssertion( "RDO:0003881"^^xsd:string) AnnotationAssertion( "MESH:C537957"^^xsd:string) AnnotationAssertion( "Acute fatty liver, gestational"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008425"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Fatty Liver of Pregnancy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Focal Cortical Dysplasia of Taylor) AnnotationAssertion( "MIM:607341"^^xsd:string) AnnotationAssertion( "MTOR-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER, MTOR RELATED"^^xsd:string) AnnotationAssertion( "MESH:C537067"^^xsd:string) AnnotationAssertion( "NCI:C201593"^^xsd:string) AnnotationAssertion( "CDT"^^xsd:string) AnnotationAssertion( "Cortical dysplasia of Taylor"^^xsd:string) AnnotationAssertion( "FCDT"^^xsd:string) AnnotationAssertion( "FCORD2"^^xsd:string) AnnotationAssertion( "Focal Cortical Dysplasia, Type II"^^xsd:string) AnnotationAssertion( "Focal cortical dysplasia, type 2"^^xsd:string) AnnotationAssertion( "focal cortical dysplasia, type II, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008426"^^xsd:string) AnnotationAssertion(rdfs:label "Focal Cortical Dysplasia of Taylor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gaucher Disease, Norrbottnian Type) AnnotationAssertion( "RDO:0014162"^^xsd:string) AnnotationAssertion( "MESH:C565556"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008427"^^xsd:string) AnnotationAssertion(rdfs:label "Gaucher Disease, Norrbottnian Type"^^xsd:string) SubClassOf( ) # Class: (Mid-Tone Neural Deafness) AnnotationAssertion( "MIM:124700"^^xsd:string) AnnotationAssertion( "MESH:C565122"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008428"^^xsd:string) AnnotationAssertion(rdfs:label "Mid-Tone Neural Deafness"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Internal Carotid Artery, Spontaneous Dissection of) AnnotationAssertion( "MIM:147820"^^xsd:string) AnnotationAssertion( "MESH:C564125"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008431"^^xsd:string) AnnotationAssertion(rdfs:label "Internal Carotid Artery, Spontaneous Dissection of"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Myopia 19, Autosomal Dominant) AnnotationAssertion( "MIM:613969"^^xsd:string) AnnotationAssertion( "MYP19"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008433"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 19, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Swine Diseases) AnnotationAssertion(Annotation( "MESH:D013553"^^xsd:string) "Diseases of domestic swine and of the wild boar of the genus Sus."^^xsd:string) AnnotationAssertion( "MESH:D013553"^^xsd:string) AnnotationAssertion( "Swine Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008435"^^xsd:string) AnnotationAssertion(rdfs:label "Swine Diseases"^^xsd:string) SubClassOf( ) # Class: (Oral Fistula) AnnotationAssertion(Annotation( "MESH:D016155"^^xsd:string) "An abnormal passage within the mouth communicating between two or more anatomical structures."^^xsd:string) AnnotationAssertion( "MESH:D016155"^^xsd:string) AnnotationAssertion( "Oral Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008436"^^xsd:string) AnnotationAssertion(rdfs:label "Oral Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cutaneous Syphilis) AnnotationAssertion(Annotation( "MESH:D013591"^^xsd:string) "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)"^^xsd:string) AnnotationAssertion( "EFO:1000887"^^xsd:string) AnnotationAssertion( "MESH:D013591"^^xsd:string) AnnotationAssertion( "Skin Syphilis"^^xsd:string) AnnotationAssertion( "Syphilid"^^xsd:string) AnnotationAssertion( "Syphilids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008437"^^xsd:string) AnnotationAssertion(rdfs:label "Cutaneous Syphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glanzmann Thrombasthenia 2) AnnotationAssertion(Annotation( "MIM:619267"^^xsd:string) "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-14T14:37:42Z"^^xsd:string) AnnotationAssertion( "MIM:619267"^^xsd:string) AnnotationAssertion( "BDPLT23"^^xsd:string) AnnotationAssertion( "GT2"^^xsd:string) AnnotationAssertion( "Platelet-Type Bleeding Disorder 23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008438"^^xsd:string) AnnotationAssertion(rdfs:label "Glanzmann Thrombasthenia 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 15, Trisomy Mosaicism) AnnotationAssertion( "MESH:C538037"^^xsd:string) AnnotationAssertion( "Trisomy 15 mosaicism"^^xsd:string) AnnotationAssertion( "Uniparental disomy of 15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008440"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 15, Trisomy Mosaicism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Preeclampsia/Eclampsia 5) AnnotationAssertion( "MIM:614595"^^xsd:string) AnnotationAssertion( "PEE5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008441"^^xsd:string) AnnotationAssertion(rdfs:label "Preeclampsia/Eclampsia 5"^^xsd:string) SubClassOf( ) # Class: (Myopia 24, Autosomal Dominant) AnnotationAssertion( "MIM:615946"^^xsd:string) AnnotationAssertion( "RDO:9001498"^^xsd:string) AnnotationAssertion( "MYP24"^^xsd:string) AnnotationAssertion( "myopia-24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008442"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 24, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Colorectal Neoplasms) AnnotationAssertion(Annotation( "MESH:D015179"^^xsd:string) "Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI."^^xsd:string) AnnotationAssertion( "EFO:0000360"^^xsd:string) AnnotationAssertion( "EFO:0004142"^^xsd:string) AnnotationAssertion( "MESH:D015179"^^xsd:string) AnnotationAssertion( "colorectal neoplasm"^^xsd:string) AnnotationAssertion( "colorectal tumor"^^xsd:string) AnnotationAssertion( "colorectal tumors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008443"^^xsd:string) AnnotationAssertion(rdfs:label "Colorectal Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Skeletal Muscle Injuries) AnnotationAssertion( "Dysfunction of skeletal muscle causally related to a traumatic, chemical, or other type of injury."^^xsd:string) AnnotationAssertion( "RDO:9000330"^^xsd:string) AnnotationAssertion( "injury of skeletal muscle"^^xsd:string) AnnotationAssertion( "skeletal muscle injury"^^xsd:string) AnnotationAssertion( "traumatic injury of skeletal muscle"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008444"^^xsd:string) AnnotationAssertion(rdfs:label "Skeletal Muscle Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intraoperative Awareness) AnnotationAssertion(Annotation( "MESH:D058926"^^xsd:string) "Occurence of a patient becoming conscious during a procedure performed under GENERAL ANESTHESIA and subsequently having recall of these events. (From Anesthesiology 2006, 104(4): 847-64.)"^^xsd:string) AnnotationAssertion( "MESH:D058926"^^xsd:string) AnnotationAssertion( "RDO:0007860"^^xsd:string) AnnotationAssertion( "Anesthesia Awareness"^^xsd:string) AnnotationAssertion( "Awareness During Anesthesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008445"^^xsd:string) AnnotationAssertion(rdfs:label "Intraoperative Awareness"^^xsd:string) SubClassOf( ) # Class: (Fibrous Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D018218"^^xsd:string) "Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue."^^xsd:string) AnnotationAssertion( "EFO:1000255"^^xsd:string) AnnotationAssertion( "MESH:D018218"^^xsd:string) AnnotationAssertion( "fibrous tissue neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008446"^^xsd:string) AnnotationAssertion(rdfs:label "Fibrous Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617669"^^xsd:string) AnnotationAssertion( "RDO:9005157"^^xsd:string) AnnotationAssertion( "PEBAS"^^xsd:string) AnnotationAssertion( "PROGRESSIVE CHILDHOOD ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008447"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY"^^xsd:string) SubClassOf( ) # Class: (YUKSEL-VOGEL-BAUER SYNDROME) AnnotationAssertion(Annotation( "MIM:620703"^^xsd:string) "This disease is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-26T12:04:49Z"^^xsd:string) AnnotationAssertion( "MIM:620703"^^xsd:string) AnnotationAssertion( "YUVOB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008448"^^xsd:string) AnnotationAssertion(rdfs:label "YUKSEL-VOGEL-BAUER SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tetany) AnnotationAssertion(Annotation( "MESH:D013746"^^xsd:string) "A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)"^^xsd:string) AnnotationAssertion( "MESH:D013746"^^xsd:string) AnnotationAssertion( "Neonatal Tetanies"^^xsd:string) AnnotationAssertion( "Neonatal Tetany"^^xsd:string) AnnotationAssertion( "Spasmophilia"^^xsd:string) AnnotationAssertion( "Spasmophilias"^^xsd:string) AnnotationAssertion( "Tetanies"^^xsd:string) AnnotationAssertion( "Tetanilla"^^xsd:string) AnnotationAssertion( "Tetanillas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008449"^^xsd:string) AnnotationAssertion(rdfs:label "Tetany"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pelvic Pain) AnnotationAssertion(Annotation( "MESH:D017699"^^xsd:string) "Pain in the pelvic region of genital and non-genital origin and of organic or psychogenic etiology. Frequent causes of pain are distension or contraction of hollow viscera, rapid stretching of the capsule of a solid organ, chemical irritation, tissue ischemia, and neuritis secondary to inflammatory, neoplastic, or fibrotic processes in adjacent organs. (Kase, Weingold & Gershenson: Principles and Practice of Clinical Gynecology, 2d ed, pp479-508)"^^xsd:string) AnnotationAssertion( "MESH:D017699"^^xsd:string) AnnotationAssertion( "Pelvic Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008450"^^xsd:string) AnnotationAssertion(rdfs:label "Pelvic Pain"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 10) AnnotationAssertion(Annotation( "MIM:620484"^^xsd:string) "An autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Caused by compound heterozygous mutation in the PTPRJ gene on chromosome 11p11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:58:34Z"^^xsd:string) AnnotationAssertion( "MIM:620484"^^xsd:string) AnnotationAssertion( "MONDO:0957578"^^xsd:string) AnnotationAssertion( "THC10"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, autosomal recessive, 10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008451"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 10"^^xsd:string) SubClassOf( ) # Class: (Candidemia) AnnotationAssertion(Annotation( "MESH:D058387"^^xsd:string) "A form of invasive candidiasis where species of CANDIDA are present in the blood."^^xsd:string) AnnotationAssertion( "EFO:1001282"^^xsd:string) AnnotationAssertion( "MESH:D058387"^^xsd:string) AnnotationAssertion( "RDO:0007824"^^xsd:string) AnnotationAssertion( "Candidemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008452"^^xsd:string) AnnotationAssertion(rdfs:label "Candidemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dysphoric Cerebral Angiopathy) AnnotationAssertion( "MIM:213500"^^xsd:string) AnnotationAssertion( "MESH:C565864"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008453"^^xsd:string) AnnotationAssertion(rdfs:label "Dysphoric Cerebral Angiopathy"^^xsd:string) SubClassOf( ) # Class: (Trichoepithelioma, Multiple Familial, 2) AnnotationAssertion( "MIM:612099"^^xsd:string) AnnotationAssertion( "MESH:C567418"^^xsd:string) AnnotationAssertion( "RDO:0015492"^^xsd:string) AnnotationAssertion( "MFT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008454"^^xsd:string) AnnotationAssertion(rdfs:label "Trichoepithelioma, Multiple Familial, 2"^^xsd:string) SubClassOf( ) # Class: (High-Frequency Hearing Loss) AnnotationAssertion(Annotation( "MESH:D006316"^^xsd:string) "Hearing loss in frequencies above 1000 hertz."^^xsd:string) AnnotationAssertion( "MESH:D006316"^^xsd:string) AnnotationAssertion( "NCI:C34663"^^xsd:string) AnnotationAssertion( "high frequency deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008455"^^xsd:string) AnnotationAssertion(rdfs:label "High-Frequency Hearing Loss"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Delayed Emergence from Anesthesia) AnnotationAssertion(Annotation( "MESH:D055191"^^xsd:string) "Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence."^^xsd:string) AnnotationAssertion( "MESH:D055191"^^xsd:string) AnnotationAssertion( "RDO:0007704"^^xsd:string) AnnotationAssertion( "Delayed Awakening from Anesthesia"^^xsd:string) AnnotationAssertion( "Delayed Recovery from Anesthesia"^^xsd:string) AnnotationAssertion( "Delayed Regaining of Consciousness"^^xsd:string) AnnotationAssertion( "Delayed Return of Consciousness"^^xsd:string) AnnotationAssertion( "Post-Anesthesia Delayed Awakening"^^xsd:string) AnnotationAssertion( "Post-Anesthesia Delayed Awakenings"^^xsd:string) AnnotationAssertion( "Post-Anesthesia Residual Paralyses"^^xsd:string) AnnotationAssertion( "Post-Anesthesia Residual Paralysis"^^xsd:string) AnnotationAssertion( "Post-Procedural Delayed Awakening"^^xsd:string) AnnotationAssertion( "Post-Procedural Delayed Awakenings"^^xsd:string) AnnotationAssertion( "Postoperative Residual Curarisation"^^xsd:string) AnnotationAssertion( "Postoperative Residual Curarisations"^^xsd:string) AnnotationAssertion( "Postoperative Residual Curarization"^^xsd:string) AnnotationAssertion( "Postoperative Residual Curarizations"^^xsd:string) AnnotationAssertion( "Postoperative Residual Weakness"^^xsd:string) AnnotationAssertion( "Postoperative Residual Weaknesses"^^xsd:string) AnnotationAssertion( "Residual Block"^^xsd:string) AnnotationAssertion( "Residual Blocks"^^xsd:string) AnnotationAssertion( "Residual Neuromuscular Block"^^xsd:string) AnnotationAssertion( "Residual Neuromuscular Blockade"^^xsd:string) AnnotationAssertion( "Residual Neuromuscular Blockades"^^xsd:string) AnnotationAssertion( "Residual Neuromuscular Blocks"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008456"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Emergence from Anesthesia"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 7) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-01-04T16:38:21Z"^^xsd:string) AnnotationAssertion( "MIM:619130"^^xsd:string) AnnotationAssertion( "THC7"^^xsd:string) AnnotationAssertion( "thrombocytopenia, autosomal dominant, 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008457"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 7"^^xsd:string) SubClassOf( ) # Class: (Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease) AnnotationAssertion( "MIM:182875"^^xsd:string) AnnotationAssertion( "MESH:C566677"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008458"^^xsd:string) AnnotationAssertion(rdfs:label "Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Poult Enteritis Mortality Syndrome) AnnotationAssertion(Annotation( "MESH:D031261"^^xsd:string) "An acute, transmissible, infectious disease associated with high MORTALITY and MORBIDITY in young turkeys (poults). It is characterized by DIARRHEA; ANOREXIA; growth depression, and immune dysfunction. The cause is unknown but astroviruses (AVASTROVIRUS) and coronaviruses (CORONAVIRUS, TURKEY) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections."^^xsd:string) AnnotationAssertion( "MESH:D031261"^^xsd:string) AnnotationAssertion( "Spiking Mortality Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008460"^^xsd:string) AnnotationAssertion(rdfs:label "Poult Enteritis Mortality Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pancreas Agenesis, Dorsal) AnnotationAssertion( "MIM:167755"^^xsd:string) AnnotationAssertion( "MESH:C538109"^^xsd:string) AnnotationAssertion( "Agenesis of the dorsal pancreas"^^xsd:string) AnnotationAssertion( "Pancreas, dorsal, agenesis of"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008461"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreas Agenesis, Dorsal"^^xsd:string) SubClassOf( ) # Class: (Lipodermatosclerosis) AnnotationAssertion( "MESH:C537026"^^xsd:string) AnnotationAssertion( "Acute lipodermatosclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008462"^^xsd:string) AnnotationAssertion(rdfs:label "Lipodermatosclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunoproliferative Disorders) AnnotationAssertion( "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins."^^xsd:string) AnnotationAssertion( "MESH:D007160"^^xsd:string) AnnotationAssertion( "Immunoproliferative Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008463"^^xsd:string) AnnotationAssertion(rdfs:label "Immunoproliferative Disorders"^^xsd:string) SubClassOf( ) # Class: (Cryopyrin-Associated Periodic Syndromes) AnnotationAssertion( "A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations."^^xsd:string) AnnotationAssertion( "DOID:0090061"^^xsd:string) AnnotationAssertion( "MESH:D056587"^^xsd:string) AnnotationAssertion( "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED"^^xsd:string) AnnotationAssertion( "Cryopyrinopathy"^^xsd:string) AnnotationAssertion( "FCAS"^^xsd:string) AnnotationAssertion( "FCU"^^xsd:string) AnnotationAssertion( "Familial Cold Induced Autoinflammatory Syndrome"^^xsd:string) AnnotationAssertion( "PLAID"^^xsd:string) AnnotationAssertion( "cryopyrin-associated periodic syndrome"^^xsd:string) AnnotationAssertion( "cryopyrinopathies"^^xsd:string) AnnotationAssertion( "familial cold urticaria"^^xsd:string) AnnotationAssertion( "familial cold urticarias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008464"^^xsd:string) AnnotationAssertion(rdfs:label "Cryopyrin-Associated Periodic Syndromes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE) AnnotationAssertion(Annotation( "MIM:618870"^^xsd:string) "A disease characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-08-20T12:30:04Z"^^xsd:string) AnnotationAssertion( "MIM:618870"^^xsd:string) AnnotationAssertion( "SDJLABA"^^xsd:string) AnnotationAssertion( "mild skeletal dysplasia with joint laxity and advanced bone age"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008465"^^xsd:string) AnnotationAssertion(rdfs:label "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum) AnnotationAssertion( "MIM:225040"^^xsd:string) AnnotationAssertion( "MESH:C565605"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008466"^^xsd:string) AnnotationAssertion(rdfs:label "Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Retinohepatoendocrinologic Syndrome) AnnotationAssertion( "MIM:268040"^^xsd:string) AnnotationAssertion( "MESH:C564839"^^xsd:string) AnnotationAssertion( "RHE syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008467"^^xsd:string) AnnotationAssertion(rdfs:label "Retinohepatoendocrinologic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hanhart Syndrome) AnnotationAssertion( "MESH:C535629"^^xsd:string) AnnotationAssertion( "Oromandibular limb hypogenesis complex"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008468"^^xsd:string) AnnotationAssertion(rdfs:label "Hanhart Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Atrial Fibrillation 2) AnnotationAssertion( "MIM:608988"^^xsd:string) AnnotationAssertion( "RDO:0013036"^^xsd:string) AnnotationAssertion( "MESH:C563903"^^xsd:string) AnnotationAssertion( "ATFB2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008470"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 2"^^xsd:string) SubClassOf( ) # Class: (Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness) AnnotationAssertion( "MIM:250420"^^xsd:string) AnnotationAssertion( "MESH:C565396"^^xsd:string) AnnotationAssertion( "METAPHYSEAL DYSOSTOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND CONDUCTIVE DEAFNESS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008471"^^xsd:string) AnnotationAssertion(rdfs:label "Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lacrimal Puncta Agenesis) AnnotationAssertion( "RDO:0014982"^^xsd:string) AnnotationAssertion( "MESH:C566703"^^xsd:string) AnnotationAssertion( "absence of lacrimal puncta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008473"^^xsd:string) AnnotationAssertion(rdfs:label "Lacrimal Puncta Agenesis"^^xsd:string) SubClassOf( ) # Class: (Beta-Aminoisobutyric Acid, Urinary Excretion of) AnnotationAssertion( "MIM:210100"^^xsd:string) AnnotationAssertion( "MESH:C565904"^^xsd:string) AnnotationAssertion( "BAIB Urinary Excretion"^^xsd:string) AnnotationAssertion( "Hyper-Beta-Aminoisobutyric Aciduria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008474"^^xsd:string) AnnotationAssertion(rdfs:label "Beta-Aminoisobutyric Acid, Urinary Excretion of"^^xsd:string) SubClassOf( ) # Class: (Hemifacial Myohyperplasia) AnnotationAssertion( "MIM:606773"^^xsd:string) AnnotationAssertion( "MESH:C535862"^^xsd:string) AnnotationAssertion( "Hypertrophy and asymmetry of the facial muscles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008475"^^xsd:string) AnnotationAssertion(rdfs:label "Hemifacial Myohyperplasia"^^xsd:string) SubClassOf( ) # Class: (Allergic Seminal Vulvovaginitis) AnnotationAssertion( "MIM:193450"^^xsd:string) AnnotationAssertion( "MESH:C565993"^^xsd:string) AnnotationAssertion( "MONDO:0008669"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008476"^^xsd:string) AnnotationAssertion(rdfs:label "Allergic Seminal Vulvovaginitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Faciocardiomelic Syndrome) AnnotationAssertion( "MIM:612731"^^xsd:string) AnnotationAssertion( "MESH:C567176"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008477"^^xsd:string) AnnotationAssertion(rdfs:label "Faciocardiomelic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Late Onset Disorders) AnnotationAssertion(Annotation( "MESH:D000067562"^^xsd:string) "Pathological conditions (Disorder, SYNDROME, or DISEASE) whose SIGNS AND SYMPTOMS manifest late in the life of an individual."^^xsd:string) AnnotationAssertion( "MESH:D000067562"^^xsd:string) AnnotationAssertion( "Late Onset Disease"^^xsd:string) AnnotationAssertion( "Late Onset Diseases"^^xsd:string) AnnotationAssertion( "Late Onset Disorder"^^xsd:string) AnnotationAssertion( "Later Onset Disorder"^^xsd:string) AnnotationAssertion( "Later Onset Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008478"^^xsd:string) AnnotationAssertion(rdfs:label "Late Onset Disorders"^^xsd:string) SubClassOf( ) # Class: (Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial) AnnotationAssertion( "MIM:500005"^^xsd:string) AnnotationAssertion( "MESH:C564024"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008479"^^xsd:string) AnnotationAssertion(rdfs:label "Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vesicoureteral Reflux 6) AnnotationAssertion( "MIM:614319"^^xsd:string) AnnotationAssertion( "VUR6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008480"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicoureteral Reflux 6"^^xsd:string) SubClassOf( ) # Class: (Spina Bifida, X-Linked) AnnotationAssertion( "MESH:C564459"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008481"^^xsd:string) AnnotationAssertion(rdfs:label "Spina Bifida, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Pain Insensitivity) AnnotationAssertion(Annotation( "MESH:D000699"^^xsd:string) "A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"^^xsd:string) AnnotationAssertion( "RDO:0004821"^^xsd:string) AnnotationAssertion( "MESH:D000699"^^xsd:string) AnnotationAssertion( "Congenital Indifference to Pain"^^xsd:string) AnnotationAssertion( "Congenital Insensitivity To Pain"^^xsd:string) AnnotationAssertion( "PAIN INSENSITIVITY"^^xsd:string) AnnotationAssertion( "channelopathy-associated insensitivity to pain"^^xsd:string) AnnotationAssertion( "congenital analgesia"^^xsd:string) AnnotationAssertion( "congenital pain indifference"^^xsd:string) AnnotationAssertion( "congenital pain indifferences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008482"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Pain Insensitivity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta) AnnotationAssertion( "MIM:604922"^^xsd:string) AnnotationAssertion( "MESH:C565734"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008483"^^xsd:string) AnnotationAssertion(rdfs:label "Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Simian Acquired Immunodeficiency Syndrome) AnnotationAssertion(Annotation( "MESH:D016097"^^xsd:string) "Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS."^^xsd:string) AnnotationAssertion( "MESH:D016097"^^xsd:string) AnnotationAssertion( "RDO:0006939"^^xsd:string) AnnotationAssertion( "SAIDS"^^xsd:string) AnnotationAssertion( "Simian AIDS"^^xsd:string) AnnotationAssertion( "Simian AIDSs"^^xsd:string) AnnotationAssertion( "Simian Acquired Immune Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "Simian Acquired Immuno Deficiency Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008484"^^xsd:string) AnnotationAssertion(rdfs:label "Simian Acquired Immunodeficiency Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cross Infection) AnnotationAssertion(Annotation( "MESH:D003428"^^xsd:string) "Any infection which a patient contracts in a health-care institution."^^xsd:string) AnnotationAssertion( "MESH:D003428"^^xsd:string) AnnotationAssertion( "RDO:0005295"^^xsd:string) AnnotationAssertion( "Cross Infections"^^xsd:string) AnnotationAssertion( "Health Care Associated Infection"^^xsd:string) AnnotationAssertion( "Health Care Associated Infections"^^xsd:string) AnnotationAssertion( "Healthcare Associated Infection"^^xsd:string) AnnotationAssertion( "Healthcare Associated Infections"^^xsd:string) AnnotationAssertion( "Hospital Infection"^^xsd:string) AnnotationAssertion( "Hospital Infections"^^xsd:string) AnnotationAssertion( "Nosocomial Infection"^^xsd:string) AnnotationAssertion( "Nosocomial Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008485"^^xsd:string) AnnotationAssertion(rdfs:label "Cross Infection"^^xsd:string) SubClassOf( ) # Class: (Neurovisceral Storage Disease with Curvilinear Bodies) AnnotationAssertion( "MIM:257000"^^xsd:string) AnnotationAssertion( "MESH:C564944"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008486"^^xsd:string) AnnotationAssertion(rdfs:label "Neurovisceral Storage Disease with Curvilinear Bodies"^^xsd:string) SubClassOf( ) # Class: (Glycinuria with or without Oxalate Urolithiasis) AnnotationAssertion( "RDO:0012472"^^xsd:string) AnnotationAssertion( "MESH:C563009"^^xsd:string) AnnotationAssertion( "MIM:138500"^^xsd:string) AnnotationAssertion( "RDO:0007995"^^xsd:string) AnnotationAssertion( "GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS"^^xsd:string) AnnotationAssertion( "IMINOGLYCINURIA TYPE II"^^xsd:string) AnnotationAssertion( "hyperglycinuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008487"^^xsd:string) AnnotationAssertion(rdfs:label "Glycinuria with or without Oxalate Urolithiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Intellectual Developmental Disorder 81) AnnotationAssertion(Annotation( "MIM:620700"^^xsd:string) "A disease characterized by a variable neurobehavioral and neuromuscular phenotype. Caused by homozygous or compound heterozygous mutation in the ASCC3 gene on chromosome 6q16."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-05T09:37:46Z"^^xsd:string) AnnotationAssertion( "MIM:620700"^^xsd:string) AnnotationAssertion( "ASCC3-ASSOCIATED DISORDER"^^xsd:string) AnnotationAssertion( "MRT81"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008488"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Intellectual Developmental Disorder 81"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Ductal, Lobular, and Medullary Neoplasms) AnnotationAssertion( "Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast."^^xsd:string) AnnotationAssertion( "MESH:D018299"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008490"^^xsd:string) AnnotationAssertion(rdfs:label "Ductal, Lobular, and Medullary Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Ulnar Hypoplasia with Mental Retardation) AnnotationAssertion( "MIM:276821"^^xsd:string) AnnotationAssertion( "MESH:C536934"^^xsd:string) AnnotationAssertion( "MESH:C564757"^^xsd:string) AnnotationAssertion( "Bilateral ulnar hypoplasia and mental retardation"^^xsd:string) AnnotationAssertion( "Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation"^^xsd:string) AnnotationAssertion( "Mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation"^^xsd:string) AnnotationAssertion( "Ulna Hypoplasia with Mental Retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008491"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar Hypoplasia with Mental Retardation"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Viral Cell Transformations) AnnotationAssertion(Annotation( "MESH:D002472"^^xsd:string) "An inheritable change in cells manifested by changes in cell division and growth and alterations in cell surface properties. It is induced by infection with a transforming virus."^^xsd:string) AnnotationAssertion( "MESH:D002472"^^xsd:string) AnnotationAssertion( "Viral Cell Transformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008493"^^xsd:string) AnnotationAssertion(rdfs:label "Viral Cell Transformations"^^xsd:string) SubClassOf( ) # Class: (Pneumonia of Swine, Mycoplasmal) AnnotationAssertion(Annotation( "MESH:D045729"^^xsd:string) "A chronic, clinically mild, infectious pneumonia of PIGS caused by MYCOPLASMA HYOPNEUMONIAE. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. PASTEURELLA MULTOCIDA is often found as a secondary infection."^^xsd:string) AnnotationAssertion( "MESH:D045729"^^xsd:string) AnnotationAssertion( "RDO:0007518"^^xsd:string) AnnotationAssertion( "Enzootic Pneumonia of Pigs"^^xsd:string) AnnotationAssertion( "Enzootic Pneumonia of Swine"^^xsd:string) AnnotationAssertion( "Mycoplasma Pneumonia of Pigs"^^xsd:string) AnnotationAssertion( "Mycoplasma Pneumonia of Swine"^^xsd:string) AnnotationAssertion( "Swine Enzootic Pneumonia"^^xsd:string) AnnotationAssertion( "Swine Mycoplasma Pneumonia"^^xsd:string) AnnotationAssertion( "Swine Mycoplasmal Pneumonia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008494"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumonia of Swine, Mycoplasmal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glaucoma 1, Open Angle, D) AnnotationAssertion( "MIM:602429"^^xsd:string) AnnotationAssertion( "MESH:C566551"^^xsd:string) AnnotationAssertion( "GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET"^^xsd:string) AnnotationAssertion( "GLC1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008495"^^xsd:string) AnnotationAssertion(rdfs:label "Glaucoma 1, Open Angle, D"^^xsd:string) SubClassOf( ) # Class: (Visceral Heterotaxy 4, Autosomal) AnnotationAssertion(Annotation( "MIM:613751"^^xsd:string) "This disease is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another."^^xsd:string) AnnotationAssertion( "MIM:613751"^^xsd:string) AnnotationAssertion( "ACVR2B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HTX4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008496"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Heterotaxy 4, Autosomal"^^xsd:string) SubClassOf( ) # Class: (Esophageal Ulcer) AnnotationAssertion( "A rare form of gastrointestinal ulcer."^^xsd:string) AnnotationAssertion( "RDO:9000519"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008497"^^xsd:string) AnnotationAssertion(rdfs:label "Esophageal Ulcer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tracheoesophageal Fistula) AnnotationAssertion(Annotation( "MESH:D014138"^^xsd:string) "Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA."^^xsd:string) AnnotationAssertion( "MESH:D014138"^^xsd:string) AnnotationAssertion( "Esophagotracheal Fistula"^^xsd:string) AnnotationAssertion( "Esophagotracheal Fistulas"^^xsd:string) AnnotationAssertion( "Tracheoesophageal Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008498"^^xsd:string) AnnotationAssertion(rdfs:label "Tracheoesophageal Fistula"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microstomia) AnnotationAssertion(Annotation( "MESH:D008865"^^xsd:string) "A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D008865"^^xsd:string) AnnotationAssertion( "Microstomias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008499"^^xsd:string) AnnotationAssertion(rdfs:label "Microstomia"^^xsd:string) SubClassOf( ) # Class: (Classical Lissencephalies and Subcortical Band Heterotopias) AnnotationAssertion(Annotation( "MESH:D054221"^^xsd:string) "Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"^^xsd:string) AnnotationAssertion( "MESH:D054221"^^xsd:string) AnnotationAssertion( "Classic Lissencephaly"^^xsd:string) AnnotationAssertion( "Classical Lissencephaly"^^xsd:string) AnnotationAssertion( "Classical Lissencephaly Syndrome"^^xsd:string) AnnotationAssertion( "Heterotopias, Subcortical Laminar"^^xsd:string) AnnotationAssertion( "Isolated Lissencephaly Sequence"^^xsd:string) AnnotationAssertion( "Lissencephaly Subcortical Band Heterotopia"^^xsd:string) AnnotationAssertion( "X-linked lissencephalies"^^xsd:string) AnnotationAssertion( "X-linked lissencephaly"^^xsd:string) AnnotationAssertion( "XLIS"^^xsd:string) AnnotationAssertion( "agyria pachygyria band spectrum"^^xsd:string) AnnotationAssertion( "classical lissencephalies"^^xsd:string) AnnotationAssertion( "lissencephaly-subcortical band heterotopias"^^xsd:string) AnnotationAssertion( "LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED"^^xsd:string) AnnotationAssertion( "SBH"^^xsd:string) AnnotationAssertion( "SCLH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008500"^^xsd:string) AnnotationAssertion(rdfs:label "Classical Lissencephalies and Subcortical Band Heterotopias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Submandibular Gland Neoplasms) AnnotationAssertion(Annotation( "MESH:D013365"^^xsd:string) "New abnormal growth of tissue in the SUBMANDIBULAR GLAND."^^xsd:string) AnnotationAssertion( "EFO:1001853"^^xsd:string) AnnotationAssertion( "MESH:D013365"^^xsd:string) AnnotationAssertion( "NCI:C134961"^^xsd:string) AnnotationAssertion( "RDO:0006642"^^xsd:string) AnnotationAssertion( "Submandibular Gland Neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008501"^^xsd:string) AnnotationAssertion(rdfs:label "Submandibular Gland Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anorchia) AnnotationAssertion( "MIM:273250"^^xsd:string) AnnotationAssertion( "DHX37-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C537770"^^xsd:string) AnnotationAssertion( "Anorchia, Familial"^^xsd:string) AnnotationAssertion( "Congenital absence of testes"^^xsd:string) AnnotationAssertion( "Empty scrotum"^^xsd:string) AnnotationAssertion( "Testicular Regression, Embryonic"^^xsd:string) AnnotationAssertion( "Testicular regression syndrome"^^xsd:string) AnnotationAssertion( "Vanishing testes"^^xsd:string) AnnotationAssertion( "XY gonadal agenesis syndrome"^^xsd:string) AnnotationAssertion( "XY gonadal dysgenesis syndrome"^^xsd:string) AnnotationAssertion( "absence of testes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008502"^^xsd:string) AnnotationAssertion(rdfs:label "Anorchia"^^xsd:string) SubClassOf( ) # Class: (Persistent Vegetative State) AnnotationAssertion(Annotation( "MESH:D018458"^^xsd:string) "Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished."^^xsd:string) AnnotationAssertion( "MESH:D018458"^^xsd:string) AnnotationAssertion( "Minimally Conscious State"^^xsd:string) AnnotationAssertion( "Minimally Conscious States"^^xsd:string) AnnotationAssertion( "PVS (Persistent Vegetative State)"^^xsd:string) AnnotationAssertion( "Permanent Vegetative State"^^xsd:string) AnnotationAssertion( "Permanent Vegetative States"^^xsd:string) AnnotationAssertion( "Persistent Unawareness State"^^xsd:string) AnnotationAssertion( "Persistent Unawareness States"^^xsd:string) AnnotationAssertion( "Persistent Vegetative States"^^xsd:string) AnnotationAssertion( "Post Comatose Unawareness State"^^xsd:string) AnnotationAssertion( "Post Traumatic Unawareness State"^^xsd:string) AnnotationAssertion( "Post Traumatic Vegetative State"^^xsd:string) AnnotationAssertion( "Post-Comatose Unawareness States"^^xsd:string) AnnotationAssertion( "Post-Traumatic Unawareness States"^^xsd:string) AnnotationAssertion( "Post-Traumatic Vegetative States"^^xsd:string) AnnotationAssertion( "Postcomatose Unawareness State"^^xsd:string) AnnotationAssertion( "Postcomatose Unawareness States"^^xsd:string) AnnotationAssertion( "Posttraumatic Unawareness State"^^xsd:string) AnnotationAssertion( "Posttraumatic Unawareness States"^^xsd:string) AnnotationAssertion( "Prolonged Post Traumatic Unawareness"^^xsd:string) AnnotationAssertion( "Prolonged Post-Traumatic Unawarenesses"^^xsd:string) AnnotationAssertion( "Transient Vegetative State"^^xsd:string) AnnotationAssertion( "Transient Vegetative States"^^xsd:string) AnnotationAssertion( "Vegetative State"^^xsd:string) AnnotationAssertion( "Vegetative States"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008503"^^xsd:string) AnnotationAssertion(rdfs:label "Persistent Vegetative State"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Nidovirales Infections) AnnotationAssertion(Annotation( "MESH:D030341"^^xsd:string) "Infections with viruses of the order NIDOVIRALES. The concept includes ARTERIVIRUS INFECTIONS and CORONAVIRIDAE INFECTIONS."^^xsd:string) AnnotationAssertion( "EFO:0007396"^^xsd:string) AnnotationAssertion( "MESH:D030341"^^xsd:string) AnnotationAssertion( "Nidovirales infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008504"^^xsd:string) AnnotationAssertion(rdfs:label "Nidovirales Infections"^^xsd:string) SubClassOf( ) # Class: (Juvenile Recurrent Parotitis) AnnotationAssertion( "MIM:603588"^^xsd:string) AnnotationAssertion( "MESH:C566359"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008505"^^xsd:string) AnnotationAssertion(rdfs:label "Juvenile Recurrent Parotitis"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 65) AnnotationAssertion(Annotation( "MIM:619320"^^xsd:string) "Characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Caused by heterozygous mutation in the KDM4B gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-19T13:22:12Z"^^xsd:string) AnnotationAssertion( "MIM:619320"^^xsd:string) AnnotationAssertion( "MRD65"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 65"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008506"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 65"^^xsd:string) SubClassOf( ) # Class: (Flank Pain) AnnotationAssertion(Annotation( "MESH:D021501"^^xsd:string) "Pain emanating from below the RIBS and above the ILIUM."^^xsd:string) AnnotationAssertion( "MESH:D021501"^^xsd:string) AnnotationAssertion( "Flank Pains"^^xsd:string) AnnotationAssertion( "Left Flank Pain"^^xsd:string) AnnotationAssertion( "Left Flank Pains"^^xsd:string) AnnotationAssertion( "Right Flank Pain"^^xsd:string) AnnotationAssertion( "Right Flank Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008507"^^xsd:string) AnnotationAssertion(rdfs:label "Flank Pain"^^xsd:string) SubClassOf( ) # Class: (Weill-Marchesani Syndrome 4) AnnotationAssertion( "MIM:613195"^^xsd:string) AnnotationAssertion( "OMIA:000588"^^xsd:string) AnnotationAssertion( "MESH:C567710"^^xsd:string) AnnotationAssertion( "ADAMTS17-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ADAMTS17-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "WMS4"^^xsd:string) AnnotationAssertion( "WMSL"^^xsd:string) AnnotationAssertion( "Weill-Marchesani-like syndrome"^^xsd:string) AnnotationAssertion( "Glaucoma, primary open angle, ADAMTS17-related"^^xsd:string) AnnotationAssertion( "Lens luxation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008508"^^xsd:string) AnnotationAssertion(rdfs:label "Weill-Marchesani Syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Cone-Rod Dystrophy and Hearing Loss 2) AnnotationAssertion( "Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. CRDHL2 is caused by homozygous or compound heterozygous mutation in the CEP250 gene on chromosome 20q11.(OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-15T16:52:11Z"^^xsd:string) AnnotationAssertion( "MIM:618358"^^xsd:string) AnnotationAssertion( "CEP250-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CRDHL2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008509"^^xsd:string) AnnotationAssertion(rdfs:label "Cone-Rod Dystrophy and Hearing Loss 2"^^xsd:string) SubClassOf( ) # Class: (Chronic Hepatitis) AnnotationAssertion(Annotation( "MESH:D006521"^^xsd:string) "INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors."^^xsd:string) AnnotationAssertion( "RDO:0005781"^^xsd:string) AnnotationAssertion( "EFO:0008496"^^xsd:string) AnnotationAssertion( "MESH:D006521"^^xsd:string) AnnotationAssertion( "chronic active hepatitis"^^xsd:string) AnnotationAssertion( "chronic persistent hepatitides"^^xsd:string) AnnotationAssertion( "chronic persistent hepatitis"^^xsd:string) AnnotationAssertion( "cryptogenic chronic hepatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008510"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Hepatitis"^^xsd:string) SubClassOf( ) # Class: (Extravasation of Diagnostic and Therapeutic Materials) AnnotationAssertion(Annotation( "MESH:D005119"^^xsd:string) "The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity."^^xsd:string) AnnotationAssertion( "MESH:D005119"^^xsd:string) AnnotationAssertion( "RDO:0005553"^^xsd:string) AnnotationAssertion( "Contrast Media Extravasation"^^xsd:string) AnnotationAssertion( "Extravasation of Contrast Media"^^xsd:string) AnnotationAssertion( "Extravasation of Diagnostic, Therapeutic Materials"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008511"^^xsd:string) AnnotationAssertion(rdfs:label "Extravasation of Diagnostic and Therapeutic Materials"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniomicromelic Syndrome) AnnotationAssertion( "MIM:602558"^^xsd:string) AnnotationAssertion( "MESH:C566522"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008512"^^xsd:string) AnnotationAssertion(rdfs:label "Craniomicromelic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hoarseness) AnnotationAssertion(Annotation( "MESH:D006685"^^xsd:string) "An unnaturally deep or rough quality of voice."^^xsd:string) AnnotationAssertion( "MESH:D006685"^^xsd:string) AnnotationAssertion( "Hoarseness of Voice"^^xsd:string) AnnotationAssertion( "Hoarsenesses"^^xsd:string) AnnotationAssertion( "Neurogenic Hoarseness"^^xsd:string) AnnotationAssertion( "Neurogenic Hoarsenesses"^^xsd:string) AnnotationAssertion( "Voice Hoarseness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008513"^^xsd:string) AnnotationAssertion(rdfs:label "Hoarseness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Psychomotor Disorders) AnnotationAssertion(Annotation( "MESH:D011596"^^xsd:string) "Abnormalities of motor function that are associated with organic and non-organic cognitive disorders."^^xsd:string) AnnotationAssertion( "MESH:D011596"^^xsd:string) AnnotationAssertion( "Developmental Psychomotor Disorder"^^xsd:string) AnnotationAssertion( "Developmental Psychomotor Disorders"^^xsd:string) AnnotationAssertion( "Psychomotor Impairment"^^xsd:string) AnnotationAssertion( "Psychomotor Impairments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008514"^^xsd:string) AnnotationAssertion(rdfs:label "Psychomotor Disorders"^^xsd:string) SubClassOf( ) # Class: (Schweitzer Kemink Graham Syndrome) AnnotationAssertion( "MESH:C536511"^^xsd:string) AnnotationAssertion( "Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia"^^xsd:string) AnnotationAssertion( "Thickened earlobes with conductive deafness from incus-stapes abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008515"^^xsd:string) AnnotationAssertion(rdfs:label "Schweitzer Kemink Graham Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mixed Polyneuropathy of Early Onset) AnnotationAssertion( "RDO:0013695"^^xsd:string) AnnotationAssertion( "MESH:C564879"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008516"^^xsd:string) AnnotationAssertion(rdfs:label "Mixed Polyneuropathy of Early Onset"^^xsd:string) SubClassOf( ) # Class: (Postoperative Hemorrhage) AnnotationAssertion(Annotation( "MESH:D019106"^^xsd:string) "Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound."^^xsd:string) AnnotationAssertion( "MESH:D019106"^^xsd:string) AnnotationAssertion( "Postoperative Blood Loss"^^xsd:string) AnnotationAssertion( "Postoperative Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008517"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Catamenial Pneumothorax) AnnotationAssertion( "RDO:0004240"^^xsd:string) AnnotationAssertion( "MESH:C538279"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008518"^^xsd:string) AnnotationAssertion(rdfs:label "Catamenial Pneumothorax"^^xsd:string) SubClassOf( ) # Class: (Polycystic Kidney, Cataract, and Congenital Blindness) AnnotationAssertion( "MIM:263100"^^xsd:string) AnnotationAssertion( "MESH:C564882"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008519"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Kidney, Cataract, and Congenital Blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chronic Pain) AnnotationAssertion(Annotation( "MESH:D059350"^^xsd:string) "Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain."^^xsd:string) AnnotationAssertion( "EFO:0010099"^^xsd:string) AnnotationAssertion( "EFO:0010100"^^xsd:string) AnnotationAssertion( "MESH:D059350"^^xsd:string) AnnotationAssertion( "Chronic Pains"^^xsd:string) AnnotationAssertion( "Widespread Chronic Pain"^^xsd:string) AnnotationAssertion( "Widespread Chronic Pains"^^xsd:string) AnnotationAssertion( "multisite chronic pain"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008520"^^xsd:string) AnnotationAssertion(rdfs:label "Chronic Pain"^^xsd:string) SubClassOf( ) # Class: (Basal Cell Carcinoma, Nonsyndromic) AnnotationAssertion( "MESH:C567789"^^xsd:string) AnnotationAssertion( "RDO:0012042"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008521"^^xsd:string) AnnotationAssertion(rdfs:label "Basal Cell Carcinoma, Nonsyndromic"^^xsd:string) SubClassOf( ) # Class: (Chromosome 9, Trisomy) AnnotationAssertion( "MESH:C538028"^^xsd:string) AnnotationAssertion( "NCI:C84282"^^xsd:string) AnnotationAssertion( "RDO:0003962"^^xsd:string) AnnotationAssertion( "Duplication 9"^^xsd:string) AnnotationAssertion( "Trisomy 9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008522"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Trisomy"^^xsd:string) SubClassOf( ) # Class: (Subretinal Fibrosis) AnnotationAssertion( "Fibrosis of the subretinal space resulting from hemorrhage of abnormal blood vessels, which are created by macular degeneration-associated choroidal neovascularization."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008523"^^xsd:string) AnnotationAssertion(rdfs:label "Subretinal Fibrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Odontoma Dysphagia Syndrome) AnnotationAssertion( "MIM:164330"^^xsd:string) AnnotationAssertion( "MESH:C537740"^^xsd:string) AnnotationAssertion( "Boder syndrome"^^xsd:string) AnnotationAssertion( "Odontomatosis (multiple odontomas) with dysphagia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008524"^^xsd:string) AnnotationAssertion(rdfs:label "Odontoma Dysphagia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Alkalosis) AnnotationAssertion(Annotation( "MESH:D000472"^^xsd:string) "A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "MESH:D000472"^^xsd:string) AnnotationAssertion( "respiratory alkaloses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008525"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Alkalosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 7, Trisomy 7q) AnnotationAssertion( "MESH:C537821"^^xsd:string) AnnotationAssertion( "RDO:0003725"^^xsd:string) AnnotationAssertion( "Duplication 7q"^^xsd:string) AnnotationAssertion( "Trisomy 7q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008526"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 7, Trisomy 7q"^^xsd:string) SubClassOf( ) # Class: (Chlamydophila Infections) AnnotationAssertion(Annotation( "MESH:D023521"^^xsd:string) "Infections with bacteria of the genus CHLAMYDOPHILA."^^xsd:string) AnnotationAssertion( "RDO:0006245"^^xsd:string) AnnotationAssertion( "EFO:1000863"^^xsd:string) AnnotationAssertion( "MESH:D023521"^^xsd:string) AnnotationAssertion( "Chlamydophila Infection"^^xsd:string) AnnotationAssertion( "Chlamydophila infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008527"^^xsd:string) AnnotationAssertion(rdfs:label "Chlamydophila Infections"^^xsd:string) SubClassOf( ) # Class: (Arene Oxide Detoxification Defect) AnnotationAssertion( "MESH:C565043"^^xsd:string) AnnotationAssertion( "RDO:0013793"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008528"^^xsd:string) AnnotationAssertion(rdfs:label "Arene Oxide Detoxification Defect"^^xsd:string) SubClassOf( ) # Class: (Diffuse Cerebral Sclerosis, Scholz Type) AnnotationAssertion( "MIM:302700"^^xsd:string) AnnotationAssertion( "MESH:C564449"^^xsd:string) AnnotationAssertion( "MONDO:0060456"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008529"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Cerebral Sclerosis, Scholz Type"^^xsd:string) SubClassOf( ) # Class: (Chlorpropamide-Alcohol Flushing) AnnotationAssertion( "MIM:118430"^^xsd:string) AnnotationAssertion( "MESH:C566132"^^xsd:string) AnnotationAssertion( "Endemic Tyrolean Infantile Cirrhosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008530"^^xsd:string) AnnotationAssertion(rdfs:label "Chlorpropamide-Alcohol Flushing"^^xsd:string) SubClassOf( ) # Class: (Daentl Towsend Siegel Syndrome) AnnotationAssertion( "RDO:0001065"^^xsd:string) AnnotationAssertion( "MESH:C535768"^^xsd:string) AnnotationAssertion( "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome"^^xsd:string) AnnotationAssertion( "Hydrocephalus blue sclera nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008531"^^xsd:string) AnnotationAssertion(rdfs:label "Daentl Towsend Siegel Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dens in Dente and Palatal Invaginations) AnnotationAssertion( "MIM:125300"^^xsd:string) AnnotationAssertion( "MESH:C538211"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008532"^^xsd:string) AnnotationAssertion(rdfs:label "Dens in Dente and Palatal Invaginations"^^xsd:string) SubClassOf( ) # Class: (Plasminogen Activator Inhibitor-1 Deficiency) AnnotationAssertion( "MIM:613329"^^xsd:string) AnnotationAssertion( "MESH:C567640"^^xsd:string) AnnotationAssertion( "NCI:C133884"^^xsd:string) AnnotationAssertion( "RDO:0015656"^^xsd:string) AnnotationAssertion( "Hyperfibrinolysis Due To Pai1 Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008533"^^xsd:string) AnnotationAssertion(rdfs:label "Plasminogen Activator Inhibitor-1 Deficiency"^^xsd:string) SubClassOf( ) # Class: (Progressive Supranuclear Palsy Atypical) AnnotationAssertion( "MIM:260540"^^xsd:string) AnnotationAssertion( "MESH:C537240"^^xsd:string) AnnotationAssertion( "RDO:0003032"^^xsd:string) AnnotationAssertion( "Atypical PSP"^^xsd:string) AnnotationAssertion( "Parkinson-Dementia Syndrome"^^xsd:string) AnnotationAssertion( "STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL"^^xsd:string) AnnotationAssertion( "SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008534"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Supranuclear Palsy Atypical"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Secretory Diarrhea, Myopathy, and Deafness) AnnotationAssertion( "MIM:607540"^^xsd:string) AnnotationAssertion( "MESH:C564382"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008535"^^xsd:string) AnnotationAssertion(rdfs:label "Secretory Diarrhea, Myopathy, and Deafness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Polypoidal Choroidal Vasculopathy) AnnotationAssertion( "A slow-growing, complex form of choroidal neovascularization which eventually causes subretinal hemorrhage and pigment epithelial detachment."^^xsd:string) AnnotationAssertion( "MESH:D000092342"^^xsd:string) AnnotationAssertion( "IPCV"^^xsd:string) AnnotationAssertion( "PCV"^^xsd:string) AnnotationAssertion( "idiopathic polypoidal choroidal vasculopathy"^^xsd:string) AnnotationAssertion( "polypoidal CNV"^^xsd:string) AnnotationAssertion( "polypoidal choroidal neovascularization"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008537"^^xsd:string) AnnotationAssertion(rdfs:label "Polypoidal Choroidal Vasculopathy"^^xsd:string) SubClassOf( ) # Class: (Neisseriaceae Infections) AnnotationAssertion(Annotation( "MESH:D016870"^^xsd:string) "Infections with bacteria of the family NEISSERIACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001377"^^xsd:string) AnnotationAssertion( "MESH:D016870"^^xsd:string) AnnotationAssertion( "RDO:0005693"^^xsd:string) AnnotationAssertion( "Neisseriaceae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008538"^^xsd:string) AnnotationAssertion(rdfs:label "Neisseriaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Perinatal Death) AnnotationAssertion(Annotation( "MESH:D066087"^^xsd:string) "The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age."^^xsd:string) AnnotationAssertion( "MESH:D066087"^^xsd:string) AnnotationAssertion( "Neonatal Death"^^xsd:string) AnnotationAssertion( "Neonatal Deaths"^^xsd:string) AnnotationAssertion( "Perinatal Deaths"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008539"^^xsd:string) AnnotationAssertion(rdfs:label "Perinatal Death"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs) AnnotationAssertion( "MESH:C567517"^^xsd:string) AnnotationAssertion( "MIM:611812"^^xsd:string) AnnotationAssertion( "46 XX gonadal dysgenesis"^^xsd:string) AnnotationAssertion( "SERKAL"^^xsd:string) AnnotationAssertion( "SERKAL SYNDROME"^^xsd:string) AnnotationAssertion( "Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008540"^^xsd:string) AnnotationAssertion(rdfs:label "46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Metatarsalgia) AnnotationAssertion(Annotation( "MESH:D037061"^^xsd:string) "Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)."^^xsd:string) AnnotationAssertion( "EFO:1001370"^^xsd:string) AnnotationAssertion( "MESH:D037061"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008541"^^xsd:string) AnnotationAssertion(rdfs:label "Metatarsalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage) AnnotationAssertion( "MESH:C538458"^^xsd:string) AnnotationAssertion( "Anti-glomerular basement membrane antibody disease"^^xsd:string) AnnotationAssertion( "Glomerulonephritis - pulmonary hemorrhage"^^xsd:string) AnnotationAssertion( "Pulmonary renal syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008542"^^xsd:string) AnnotationAssertion(rdfs:label "Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Agnathia-Microstomia-Synotia) AnnotationAssertion( "MESH:C538059"^^xsd:string) AnnotationAssertion( "RDO:0003994"^^xsd:string) AnnotationAssertion( "Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment"^^xsd:string) AnnotationAssertion( "Plurimalformative syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008543"^^xsd:string) AnnotationAssertion(rdfs:label "Agnathia-Microstomia-Synotia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (9q22.3 Microdeletion) AnnotationAssertion( "MESH:C579873"^^xsd:string) AnnotationAssertion( "RDO:0015858"^^xsd:string) AnnotationAssertion( "9q22 Deletion Syndrome"^^xsd:string) AnnotationAssertion( "9q22.3 Deletion"^^xsd:string) AnnotationAssertion( "Microdeletion 9q22.3 Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008544"^^xsd:string) AnnotationAssertion(rdfs:label "9q22.3 Microdeletion"^^xsd:string) SubClassOf( ) # Class: (ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-11-08T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9001284"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008545"^^xsd:string) AnnotationAssertion(rdfs:label "ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rodrigues Blindness) AnnotationAssertion( "MIM:268320"^^xsd:string) AnnotationAssertion( "MESH:C535865"^^xsd:string) AnnotationAssertion( "Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008546"^^xsd:string) AnnotationAssertion(rdfs:label "Rodrigues Blindness"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease Type 6B) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-09-09T09:43:44Z"^^xsd:string) AnnotationAssertion( "EFO:0009075"^^xsd:string) AnnotationAssertion( "MIM:616505"^^xsd:string) AnnotationAssertion( "CMT6B"^^xsd:string) AnnotationAssertion( "HMSN VIB"^^xsd:string) AnnotationAssertion( "HMSN6B"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type VIB"^^xsd:string) AnnotationAssertion( "hereditary motor and sensory neuropathy type VIB, with optic atrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008547"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease Type 6B"^^xsd:string) SubClassOf( ) # Class: (Photoparoxysmal Response 1) AnnotationAssertion( "RDO:0007976"^^xsd:string) AnnotationAssertion( "MIM:132100"^^xsd:string) AnnotationAssertion( "PHOTOCONVULSIVE REACTION"^^xsd:string) AnnotationAssertion( "PHOTOSENSITIVITY"^^xsd:string) AnnotationAssertion( "PPR"^^xsd:string) AnnotationAssertion( "PPR1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008548"^^xsd:string) AnnotationAssertion(rdfs:label "Photoparoxysmal Response 1"^^xsd:string) SubClassOf( ) # Class: (Lipoprotein Glomerulopathy) AnnotationAssertion( "MESH:C567089"^^xsd:string) AnnotationAssertion( "MIM:611771"^^xsd:string) AnnotationAssertion( "MONDO:0012725"^^xsd:string) AnnotationAssertion( "ORDO:329481"^^xsd:string) AnnotationAssertion( "LPG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "APOE KYOTO"^^xsd:string) AnnotationAssertion( "APOE SENDAI"^^xsd:string) AnnotationAssertion( "APOE2 Isoforms"^^xsd:string) AnnotationAssertion( "DOID:9008549"^^xsd:string) AnnotationAssertion(rdfs:label "Lipoprotein Glomerulopathy"^^xsd:string) SubClassOf( ) # Class: (Vitamin A Deficiency) AnnotationAssertion(Annotation( "MESH:D014802"^^xsd:string) "A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)"^^xsd:string) AnnotationAssertion( "EFO:1001237"^^xsd:string) AnnotationAssertion( "MESH:D014802"^^xsd:string) AnnotationAssertion( "RDO:0001619"^^xsd:string) AnnotationAssertion( "Vitamin A Deficiencies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008550"^^xsd:string) AnnotationAssertion(rdfs:label "Vitamin A Deficiency"^^xsd:string) SubClassOf( ) # Class: (Flaviviridae Infections) AnnotationAssertion(Annotation( "MESH:D018178"^^xsd:string) "Infections with viruses of the family FLAVIVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007274"^^xsd:string) AnnotationAssertion( "MESH:D018178"^^xsd:string) AnnotationAssertion( "Flaviviridae Infection"^^xsd:string) AnnotationAssertion( "Flaviviridae infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008551"^^xsd:string) AnnotationAssertion(rdfs:label "Flaviviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Subcortical Band Heterotopia, X-Linked) AnnotationAssertion( "MESH:C564722"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008552"^^xsd:string) AnnotationAssertion(rdfs:label "Subcortical Band Heterotopia, X-Linked"^^xsd:string) SubClassOf( ) # Class: (Urachal Adenocarcinoma) AnnotationAssertion( "MESH:C536474"^^xsd:string) AnnotationAssertion( "Adenocarcinoma of the urachus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008553"^^xsd:string) AnnotationAssertion(rdfs:label "Urachal Adenocarcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tessadori-van Haaften Neurodevelopmental Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-07-18T10:36:50Z"^^xsd:string) AnnotationAssertion( "MIM:PS619758"^^xsd:string) AnnotationAssertion( "TEVANED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008554"^^xsd:string) AnnotationAssertion(rdfs:label "Tessadori-van Haaften Neurodevelopmental Syndrome"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Radio-Ulnar Synostosis Type 2) AnnotationAssertion( "MESH:C536269"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008556"^^xsd:string) AnnotationAssertion(rdfs:label "Radio-Ulnar Synostosis Type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Single Umbilical Artery) AnnotationAssertion(Annotation( "MESH:D058529"^^xsd:string) "Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta."^^xsd:string) AnnotationAssertion( "MESH:D058529"^^xsd:string) AnnotationAssertion( "RDO:0007834"^^xsd:string) AnnotationAssertion( "Single Umbilical Arteries"^^xsd:string) AnnotationAssertion( "Two Vessel Cord"^^xsd:string) AnnotationAssertion( "Two Vessel Cords"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008557"^^xsd:string) AnnotationAssertion(rdfs:label "Single Umbilical Artery"^^xsd:string) SubClassOf( ) # Class: (MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY) AnnotationAssertion(Annotation( "MIM:615511"^^xsd:string) "An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-07-15T13:30:56Z"^^xsd:string) AnnotationAssertion( "MIM:615511"^^xsd:string) AnnotationAssertion( "NCI:C157504"^^xsd:string) AnnotationAssertion( "MMDD"^^xsd:string) AnnotationAssertion( "MUSCLE AMP DEAMINASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO"^^xsd:string) AnnotationAssertion( "MYOPATHY DUE TO AMPD1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008558"^^xsd:string) AnnotationAssertion(rdfs:label "MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bacterial Lung Diseases) AnnotationAssertion( "Pulmonary diseases caused by bacterial infections."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002453"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008559"^^xsd:string) AnnotationAssertion(rdfs:label "Bacterial Lung Diseases"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohyperkalemia, Familial, 2, due to Red Cell Leak) AnnotationAssertion( "MIM:185020"^^xsd:string) AnnotationAssertion( "MIM:609153"^^xsd:string) AnnotationAssertion( "MESH:C535827"^^xsd:string) AnnotationAssertion( "MESH:C563785"^^xsd:string) AnnotationAssertion( "CHC"^^xsd:string) AnnotationAssertion( "CRYOHYDROCYTOSIS, MILD"^^xsd:string) AnnotationAssertion( "Cryohydrocytosis"^^xsd:string) AnnotationAssertion( "PSEUDOHYPERKALEMIA CARDIFF"^^xsd:string) AnnotationAssertion( "PSEUDOHYPERKALEMIA CHISWICK"^^xsd:string) AnnotationAssertion( "PSEUDOHYPERKALEMIA EAST LONDON"^^xsd:string) AnnotationAssertion( "PSEUDOHYPERKALEMIA FALKIRK"^^xsd:string) AnnotationAssertion( "PSHK2"^^xsd:string) AnnotationAssertion( "Pseudohyperkalemia Lille"^^xsd:string) AnnotationAssertion( "Stomatocytosis, cold-sensitive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008560"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohyperkalemia, Familial, 2, due to Red Cell Leak"^^xsd:string) SubClassOf( ) # Class: (Ventricular Septal Rupture) AnnotationAssertion(Annotation( "MESH:D018658"^^xsd:string) "Laceration or tearing of the VENTRICULAR SEPTUM, usually caused by MYOCARDIAL INFARCTION."^^xsd:string) AnnotationAssertion( "MESH:D018658"^^xsd:string) AnnotationAssertion( "RDO:0007226"^^xsd:string) AnnotationAssertion( "Ventricular Septal Perforation"^^xsd:string) AnnotationAssertion( "Ventricular Septal Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008561"^^xsd:string) AnnotationAssertion(rdfs:label "Ventricular Septal Rupture"^^xsd:string) SubClassOf( ) # Class: (Parotid Salivary Glands, Polycystic Disease of) AnnotationAssertion( "MIM:600343"^^xsd:string) AnnotationAssertion( "MESH:C563951"^^xsd:string) AnnotationAssertion( "PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF"^^xsd:string) AnnotationAssertion( "PDDP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008562"^^xsd:string) AnnotationAssertion(rdfs:label "Parotid Salivary Glands, Polycystic Disease of"^^xsd:string) SubClassOf( ) # Class: (Charcot-Marie-Tooth Disease, Type 2A) AnnotationAssertion( "MESH:C537988"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, axonal, Type 2A"^^xsd:string) AnnotationAssertion( "Charcot-Marie-Tooth disease, neuronal, Type 2A"^^xsd:string) AnnotationAssertion( "HMSN IIA"^^xsd:string) AnnotationAssertion( "Hereditary motor and sensory neuropathy 2 A"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008563"^^xsd:string) AnnotationAssertion(rdfs:label "Charcot-Marie-Tooth Disease, Type 2A"^^xsd:string) SubClassOf( ) # Class: (Retinal Dystrophy and Microvillus Inclusion Disease) AnnotationAssertion(Annotation( "MIM:619446"^^xsd:string) "Characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T12:47:48Z"^^xsd:string) AnnotationAssertion( "MIM:619446"^^xsd:string) AnnotationAssertion( "RDMVID"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008564"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy and Microvillus Inclusion Disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-18T11:31:49Z"^^xsd:string) AnnotationAssertion( "EFO:0600032"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008565"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types"^^xsd:string) SubClassOf( ) # Class: (CHA Heavy Chain Disease Protein, Human) AnnotationAssertion( "MESH:C483999"^^xsd:string) AnnotationAssertion( "gamma heavy chain disease protein CHA, human"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008566"^^xsd:string) AnnotationAssertion(rdfs:label "CHA Heavy Chain Disease Protein, Human"^^xsd:string) SubClassOf( ) # Class: (DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES) AnnotationAssertion(Annotation( "MIM:619964"^^xsd:string) "This is a neurodevelopmental disorder characterized by variably impaired skill acquisition apparent from infancy or early childhood. Affected individuals have predominant language delay with mild fine and gross motor deficits. Most patients have mild to moderately impaired intellectual development and behavioral abnormalities, including aggression, hyperactivity, and autism spectrum disorder."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-06T11:17:27Z"^^xsd:string) AnnotationAssertion( "MIM:619964"^^xsd:string) AnnotationAssertion( "ARFGEF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "DEDISB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008567"^^xsd:string) AnnotationAssertion(rdfs:label "DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Camptodactyly Syndrome Guadalajara Type 2) AnnotationAssertion( "MIM:211920"^^xsd:string) AnnotationAssertion( "GARD:1068"^^xsd:string) AnnotationAssertion( "MESH:C537971"^^xsd:string) AnnotationAssertion( "camptodactyly syndrome, Guadalajara type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008568"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Syndrome Guadalajara Type 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Bronchial Spasm) AnnotationAssertion(Annotation( "MESH:D001986"^^xsd:string) "Spasmodic contraction of the smooth muscle of the bronchi."^^xsd:string) AnnotationAssertion( "MESH:D001986"^^xsd:string) AnnotationAssertion( "bronchial spasms"^^xsd:string) AnnotationAssertion( "bronchospasm"^^xsd:string) AnnotationAssertion( "bronchospasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008569"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchial Spasm"^^xsd:string) SubClassOf( ) # Class: (Gardner-Diamond Syndrome) AnnotationAssertion( "RDO:0000880"^^xsd:string) AnnotationAssertion( "MESH:C535645"^^xsd:string) AnnotationAssertion( "autoerythrocyte sensitization"^^xsd:string) AnnotationAssertion( "psychogenic purpura"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008570"^^xsd:string) AnnotationAssertion(rdfs:label "Gardner-Diamond Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cone Dystrophy 4) AnnotationAssertion( "MIM:613093"^^xsd:string) AnnotationAssertion( "MESH:C567758"^^xsd:string) AnnotationAssertion( "COD4"^^xsd:string) AnnotationAssertion( "PDE6C-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "ACHM5"^^xsd:string) AnnotationAssertion( "ACHROMATOPSIA 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008571"^^xsd:string) AnnotationAssertion(rdfs:label "Cone Dystrophy 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Novak Syndrome) AnnotationAssertion( "MIM:215800"^^xsd:string) AnnotationAssertion( "MESH:C537851"^^xsd:string) AnnotationAssertion( "laryngotracheoesophageal cleft pulmonary hypoplasia"^^xsd:string) AnnotationAssertion( "posterior cleft larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008572"^^xsd:string) AnnotationAssertion(rdfs:label "Novak Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vector Borne Diseases) AnnotationAssertion(Annotation( "MESH:D000079426"^^xsd:string) "Infectious diseases transmitted by DISEASE VECTORS."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T14:49:46Z"^^xsd:string) AnnotationAssertion( "MESH:D000079426"^^xsd:string) AnnotationAssertion( "Vector-Borne Diseases"^^xsd:string) AnnotationAssertion( "Vectorborne Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008573"^^xsd:string) AnnotationAssertion(rdfs:label "Vector Borne Diseases"^^xsd:string) SubClassOf( ) # Class: (Tamari Goodman Syndrome) AnnotationAssertion( "MESH:C536896"^^xsd:string) AnnotationAssertion( "RDO:0002614"^^xsd:string) AnnotationAssertion( "Congenital heart disease radio ulnar synostos mental retardation"^^xsd:string) AnnotationAssertion( "Upper limb cardiovascular syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008574"^^xsd:string) AnnotationAssertion(rdfs:label "Tamari Goodman Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Olmsted Syndrome 2) AnnotationAssertion( "Mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities, caused by heterozygous mutation in the PERP gene on chromosome 6q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-03-01T14:43:03Z"^^xsd:string) AnnotationAssertion( "MIM:619208"^^xsd:string) AnnotationAssertion( "OLMS2"^^xsd:string) AnnotationAssertion( "PPKM2"^^xsd:string) AnnotationAssertion( "mutilating palmoplantar keratoderma with periorificial keratotic plaques 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008575"^^xsd:string) AnnotationAssertion(rdfs:label "Olmsted Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Wilms Tumor 2) AnnotationAssertion( "MIM:194071"^^xsd:string) AnnotationAssertion( "EFO:1000056"^^xsd:string) AnnotationAssertion( "MESH:C536853"^^xsd:string) AnnotationAssertion( "WT2"^^xsd:string) AnnotationAssertion( "familial Wilms tumor 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008576"^^xsd:string) AnnotationAssertion(rdfs:label "Wilms Tumor 2"^^xsd:string) SubClassOf( ) # Class: (Factor V Excess with Spontaneous Thrombosis) AnnotationAssertion( "MIM:134400"^^xsd:string) AnnotationAssertion( "MESH:C565026"^^xsd:string) AnnotationAssertion( "PROACCELERIN EXCESS"^^xsd:string) AnnotationAssertion( "THROMBOPHILIA WITH ELEVATED FACTOR V"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008577"^^xsd:string) AnnotationAssertion(rdfs:label "Factor V Excess with Spontaneous Thrombosis"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Short Stature, and Impaired Glucose Metabolism) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-09T00:00:00Z"^^xsd:string) AnnotationAssertion( "MSSGM"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008578"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Short Stature, and Impaired Glucose Metabolism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Circoviridae Infections) AnnotationAssertion(Annotation( "MESH:D018173"^^xsd:string) "Virus diseases caused by the CIRCOVIRIDAE."^^xsd:string) AnnotationAssertion( "RDO:0007091"^^xsd:string) AnnotationAssertion( "EFO:1001292"^^xsd:string) AnnotationAssertion( "MESH:D018173"^^xsd:string) AnnotationAssertion( "Circoviridae Infection"^^xsd:string) AnnotationAssertion( "Circoviridae infectious disease"^^xsd:string) AnnotationAssertion( "Circovirus Infection"^^xsd:string) AnnotationAssertion( "Circovirus Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008580"^^xsd:string) AnnotationAssertion(rdfs:label "Circoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (CAKUT3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-12T10:52:29Z"^^xsd:string) AnnotationAssertion( "MIM:618270"^^xsd:string) AnnotationAssertion( "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3"^^xsd:string) AnnotationAssertion( "NRIP1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008581"^^xsd:string) AnnotationAssertion(rdfs:label "CAKUT3"^^xsd:string) SubClassOf( ) # Class: (Developmental Disease) AnnotationAssertion( "Mental or physical disorders that usually manifest during the equivalent of human childhood or teenage years."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-09-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "development diseases"^^xsd:string) AnnotationAssertion( "developmental disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008582"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "Developmental Disease"^^xsd:string) SubClassOf( ) # Class: (Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis) AnnotationAssertion( "MIM:246500"^^xsd:string) AnnotationAssertion( "MESH:C565440"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008583"^^xsd:string) AnnotationAssertion(rdfs:label "Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Yersinia Pseudotuberculosis Infections) AnnotationAssertion(Annotation( "MESH:D015012"^^xsd:string) "Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS."^^xsd:string) AnnotationAssertion( "EFO:1001246"^^xsd:string) AnnotationAssertion( "MESH:D015012"^^xsd:string) AnnotationAssertion( "Pasteurella Pseudotuberculoses"^^xsd:string) AnnotationAssertion( "Pasteurella Pseudotuberculosis"^^xsd:string) AnnotationAssertion( "Yersinia pseudotuberculosis infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008584"^^xsd:string) AnnotationAssertion(rdfs:label "Yersinia Pseudotuberculosis Infections"^^xsd:string) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency) AnnotationAssertion( "MESH:C563829"^^xsd:string) AnnotationAssertion( "RDO:0012988"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008585"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Tooth Avulsion) AnnotationAssertion(Annotation( "MESH:D014084"^^xsd:string) "Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312)"^^xsd:string) AnnotationAssertion( "MESH:D014084"^^xsd:string) AnnotationAssertion( "Avulsed Tooth"^^xsd:string) AnnotationAssertion( "Tooth Avulsions"^^xsd:string) AnnotationAssertion( "Tooth Dislocation"^^xsd:string) AnnotationAssertion( "Tooth Dislocations"^^xsd:string) AnnotationAssertion( "Tooth Luxation"^^xsd:string) AnnotationAssertion( "Tooth Luxations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008586"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Avulsion"^^xsd:string) SubClassOf( ) # Class: (Mycoplasmatales Infections) AnnotationAssertion(Annotation( "MESH:D009180"^^xsd:string) "Infections with bacteria of the order MYCOPLASMATALES."^^xsd:string) AnnotationAssertion( "EFO:1001374"^^xsd:string) AnnotationAssertion( "MESH:D009180"^^xsd:string) AnnotationAssertion( "Mycoplasmatales Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008587"^^xsd:string) AnnotationAssertion(rdfs:label "Mycoplasmatales Infections"^^xsd:string) SubClassOf( ) # Class: (Zellweger Syndrome 2) AnnotationAssertion( "RDO:9000707"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008588"^^xsd:string) AnnotationAssertion(rdfs:label "Zellweger Syndrome 2"^^xsd:string) SubClassOf( ) # Class: (Hallux Valgus) AnnotationAssertion(Annotation( "MESH:D006215"^^xsd:string) "Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or bunion formation over the bony prominence."^^xsd:string) AnnotationAssertion( "MESH:D006215"^^xsd:string) AnnotationAssertion( "RDO:0005710"^^xsd:string) AnnotationAssertion( "Hallux Abductovalgus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008589"^^xsd:string) AnnotationAssertion(rdfs:label "Hallux Valgus"^^xsd:string) SubClassOf( ) # Class: (Cor Triatriatum) AnnotationAssertion(Annotation( "MESH:D003310"^^xsd:string) "A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous return, pulmonary venous and pulmonary arterial hypertension."^^xsd:string) AnnotationAssertion( "MESH:D003310"^^xsd:string) AnnotationAssertion( "Cor Triatriatum Sinistrum"^^xsd:string) AnnotationAssertion( "Subdivided Left Atrium"^^xsd:string) AnnotationAssertion( "Subdivided Left Atriums"^^xsd:string) AnnotationAssertion( "Triatrial Heart"^^xsd:string) AnnotationAssertion( "Triatrial Hearts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008590"^^xsd:string) AnnotationAssertion(rdfs:label "Cor Triatriatum"^^xsd:string) SubClassOf( ) # Class: (Setting-Sun Phenomenon, Familial Benign) AnnotationAssertion( "MIM:600598"^^xsd:string) AnnotationAssertion( "MESH:C563470"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008591"^^xsd:string) AnnotationAssertion(rdfs:label "Setting-Sun Phenomenon, Familial Benign"^^xsd:string) SubClassOf( ) # Class: (Familial Angiolipomatosis) AnnotationAssertion( "MIM:206550"^^xsd:string) AnnotationAssertion( "MESH:C565951"^^xsd:string) AnnotationAssertion( "angiolipoma microthromboticum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008592"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Angiolipomatosis"^^xsd:string) SubClassOf( ) # Class: (Sinus Pericranii) AnnotationAssertion(Annotation( "MESH:D020779"^^xsd:string) "Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be congenital or traumatic in origin."^^xsd:string) AnnotationAssertion( "MESH:D020779"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008593"^^xsd:string) AnnotationAssertion(rdfs:label "Sinus Pericranii"^^xsd:string) SubClassOf( ) # Class: (Familial Subependymomas) AnnotationAssertion( "MESH:C538553"^^xsd:string) AnnotationAssertion( "RDO:0004493"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008594"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Subependymomas"^^xsd:string) SubClassOf( ) # Class: (Brain Abscess) AnnotationAssertion(Annotation( "MESH:D001922"^^xsd:string) "A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6)"^^xsd:string) AnnotationAssertion( "MESH:D001922"^^xsd:string) AnnotationAssertion( "Brain Abscesses"^^xsd:string) AnnotationAssertion( "Cerebral Abscess"^^xsd:string) AnnotationAssertion( "Cerebral Abscesses"^^xsd:string) AnnotationAssertion( "Child Brain Abscess"^^xsd:string) AnnotationAssertion( "Multiple Brain Abscess"^^xsd:string) AnnotationAssertion( "Multiple Brain Abscesses"^^xsd:string) AnnotationAssertion( "Pyogenic Brain Abscess"^^xsd:string) AnnotationAssertion( "Pyogenic Brain Abscesses"^^xsd:string) AnnotationAssertion( "Sterile Brain Abscess"^^xsd:string) AnnotationAssertion( "Sterile Brain Abscesses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008595"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Baker-Gordon Syndrome) AnnotationAssertion(Annotation( "MIM:618218"^^xsd:string) "A neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-10T18:10:58Z"^^xsd:string) AnnotationAssertion( "MIM:618218"^^xsd:string) AnnotationAssertion( "BAGOS"^^xsd:string) AnnotationAssertion( "NEDIMAE"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008596"^^xsd:string) AnnotationAssertion(rdfs:label "Baker-Gordon Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Traumatic Intracranial Hemorrhage) AnnotationAssertion(Annotation( "MESH:D020198"^^xsd:string) "Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES."^^xsd:string) AnnotationAssertion( "MESH:D020198"^^xsd:string) AnnotationAssertion( "Traumatic Intracranial Hematoma"^^xsd:string) AnnotationAssertion( "Traumatic Intracranial Hematomas"^^xsd:string) AnnotationAssertion( "Traumatic Intracranial Hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008598"^^xsd:string) AnnotationAssertion(rdfs:label "Traumatic Intracranial Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy) AnnotationAssertion( "MESH:C565117"^^xsd:string) AnnotationAssertion( "RDO:0013845"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008599"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 6, Deletion 6q13 q15) AnnotationAssertion( "MESH:C537764"^^xsd:string) AnnotationAssertion( "RDO:0003662"^^xsd:string) AnnotationAssertion( "Deletion 6q13 q15"^^xsd:string) AnnotationAssertion( "Monosomy 6q13 q15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008600"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 6, Deletion 6q13 q15"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures) AnnotationAssertion( "Autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-06-16T13:02:41Z"^^xsd:string) AnnotationAssertion( "MIM:618862"^^xsd:string) AnnotationAssertion( "NEDHYMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008601"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alcohol Amnestic Disorder) AnnotationAssertion(Annotation( "MESH:D000425"^^xsd:string) "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)"^^xsd:string) AnnotationAssertion( "EFO:1001759"^^xsd:string) AnnotationAssertion( "MESH:D000425"^^xsd:string) AnnotationAssertion( "RDO:0004589"^^xsd:string) AnnotationAssertion( "Alcohol Amnestic Disorders"^^xsd:string) AnnotationAssertion( "Alcohol Amnestic Syndrome"^^xsd:string) AnnotationAssertion( "Alcohol Amnestic Syndromes"^^xsd:string) AnnotationAssertion( "Alcohol Induced Amnestic Psychosis"^^xsd:string) AnnotationAssertion( "Alcohol Induced Amnestic Syndrome"^^xsd:string) AnnotationAssertion( "Alcohol Induced Dysmnesic Psychosis"^^xsd:string) AnnotationAssertion( "Alcohol Induced Dysmnesic Syndrome"^^xsd:string) AnnotationAssertion( "Alcohol Induced Korsakoff Syndrome"^^xsd:string) AnnotationAssertion( "Alcohol Induced Persisting Amnestic Disorder"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Amnestic Psychoses"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Amnestic Syndromes"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Dysmnesic Psychoses"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Dysmnesic Syndromes"^^xsd:string) AnnotationAssertion( "Alcohol-Induced Korsakoff Syndromes"^^xsd:string) AnnotationAssertion( "Alcoholic Korsakoff Syndrome"^^xsd:string) AnnotationAssertion( "Alcoholic Korsakoff Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008602"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol Amnestic Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rhabdoviridae Infections) AnnotationAssertion(Annotation( "MESH:D018353"^^xsd:string) "Virus diseases caused by RHABDOVIRIDAE. Important infections include RABIES; EPHEMERAL FEVER; and vesicular stomatitis."^^xsd:string) AnnotationAssertion( "EFO:0007469"^^xsd:string) AnnotationAssertion( "MESH:D018353"^^xsd:string) AnnotationAssertion( "RDO:0005503"^^xsd:string) AnnotationAssertion( "Rhabdoviridae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008603"^^xsd:string) AnnotationAssertion(rdfs:label "Rhabdoviridae Infections"^^xsd:string) SubClassOf( ) # Class: (Radiation Pneumonitis) AnnotationAssertion(Annotation( "MESH:D017564"^^xsd:string) "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation."^^xsd:string) AnnotationAssertion( "EFO:1001411"^^xsd:string) AnnotationAssertion( "MESH:D017564"^^xsd:string) AnnotationAssertion( "Radiation Fibrosis"^^xsd:string) AnnotationAssertion( "Radiation Pneumonia"^^xsd:string) AnnotationAssertion( "Radiation Pneumonias"^^xsd:string) AnnotationAssertion( "Radiation Pneumonitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008604"^^xsd:string) AnnotationAssertion(rdfs:label "Radiation Pneumonitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperparathyroidism 3) AnnotationAssertion( "MIM:610071"^^xsd:string) AnnotationAssertion( "MESH:C566450"^^xsd:string) AnnotationAssertion( "HRPT3"^^xsd:string) AnnotationAssertion( "familial isolated hyperparathyroidism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008605"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperparathyroidism 3"^^xsd:string) SubClassOf( ) # Class: (Corneal Opacity) AnnotationAssertion(Annotation( "MESH:D003318"^^xsd:string) "Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque."^^xsd:string) AnnotationAssertion( "MESH:D003318"^^xsd:string) AnnotationAssertion( "RDO:0000901"^^xsd:string) AnnotationAssertion( "Corneal Opacities"^^xsd:string) AnnotationAssertion( "Leukoma"^^xsd:string) AnnotationAssertion( "Leukomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008606"^^xsd:string) AnnotationAssertion(rdfs:label "Corneal Opacity"^^xsd:string) SubClassOf( ) # Class: (Prostatic Malacoplakia associated with Prostatic Abscess) AnnotationAssertion( "MESH:C537244"^^xsd:string) AnnotationAssertion( "Prostatic malacoplakia with prostatic and seminal vesicle abscess"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008607"^^xsd:string) AnnotationAssertion(rdfs:label "Prostatic Malacoplakia associated with Prostatic Abscess"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Endotoxin-Induced Uveitis) AnnotationAssertion( "An anterior uveitis caused by lipopolysacharride. May be experimentally induced in animals by systemic injection of bacterial lipopolysacharride."^^xsd:string) AnnotationAssertion( "EIU"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008609"^^xsd:string) AnnotationAssertion(rdfs:label "Endotoxin-Induced Uveitis"^^xsd:string) SubClassOf( ) # Class: (Keratitis Fugax Hereditaria) AnnotationAssertion( "MIM:148200"^^xsd:string) AnnotationAssertion( "MESH:C563650"^^xsd:string) AnnotationAssertion( "MONDO:0007849"^^xsd:string) AnnotationAssertion( "Keratoendotheliitis Fugax Hereditaria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008610"^^xsd:string) AnnotationAssertion(rdfs:label "Keratitis Fugax Hereditaria"^^xsd:string) SubClassOf( ) # Class: (Infundibulopelvic Dysgenesis) AnnotationAssertion( "MIM:600989"^^xsd:string) AnnotationAssertion( "MESH:C535528"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008611"^^xsd:string) AnnotationAssertion(rdfs:label "Infundibulopelvic Dysgenesis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Connective and Soft Tissue Neoplasms) AnnotationAssertion(Annotation( "MESH:D018204"^^xsd:string) "Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue."^^xsd:string) AnnotationAssertion( "MESH:D018204"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008612"^^xsd:string) AnnotationAssertion(rdfs:label "Connective and Soft Tissue Neoplasms"^^xsd:string) SubClassOf( ) # Class: (Cataract, Variable Zonular Pulverulent) AnnotationAssertion( "MESH:C565132"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008613"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Variable Zonular Pulverulent"^^xsd:string) SubClassOf( ) # Class: (Cardiovascular Pregnancy Complications) AnnotationAssertion(Annotation( "MESH:D011249"^^xsd:string) "The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS."^^xsd:string) AnnotationAssertion( "MESH:D011249"^^xsd:string) AnnotationAssertion( "Cardiovascular Pregnancy Complication"^^xsd:string) AnnotationAssertion( "cardiovascular complications pregnancies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008614"^^xsd:string) AnnotationAssertion(rdfs:label "Cardiovascular Pregnancy Complications"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 1) AnnotationAssertion( "MIM:607086"^^xsd:string) AnnotationAssertion( "MESH:C562834"^^xsd:string) AnnotationAssertion( "AAT1"^^xsd:string) AnnotationAssertion( "Annuloaortic Ectasia"^^xsd:string) AnnotationAssertion( "FAA1"^^xsd:string) AnnotationAssertion( "Familial Aortic Aneurysm"^^xsd:string) AnnotationAssertion( "Familial Aortic Dissection"^^xsd:string) AnnotationAssertion( "Familial Taad"^^xsd:string) AnnotationAssertion( "Familial Thoracic Aortic Aneurysm"^^xsd:string) AnnotationAssertion( "familial thoracic aortic aneurysm and dissection"^^xsd:string) AnnotationAssertion( "thoracic aortic aneurysm"^^xsd:string) AnnotationAssertion( "Erdheim cystic medial necrosis of aorta"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008615"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 1"^^xsd:string) SubClassOf( ) # Class: (Patent Ductus Venosus) AnnotationAssertion( "MIM:601466"^^xsd:string) AnnotationAssertion( "MESH:C562830"^^xsd:string) AnnotationAssertion( "Portosystemic Venous Shunt, Congenital"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008616"^^xsd:string) AnnotationAssertion(rdfs:label "Patent Ductus Venosus"^^xsd:string) SubClassOf( ) # Class: (Lethargy) AnnotationAssertion(Annotation( "MESH:D053609"^^xsd:string) "A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION."^^xsd:string) AnnotationAssertion( "MESH:D053609"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008617"^^xsd:string) AnnotationAssertion(rdfs:label "Lethargy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome) AnnotationAssertion( "MIM:214350"^^xsd:string) AnnotationAssertion( "MESH:C538074"^^xsd:string) AnnotationAssertion( "CHAND syndrome"^^xsd:string) AnnotationAssertion( "CHANDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008620"^^xsd:string) AnnotationAssertion(rdfs:label "Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY) AnnotationAssertion(Annotation( "MIM:619971"^^xsd:string) "This disease is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-12-13T12:46:45Z"^^xsd:string) AnnotationAssertion( "MIM:619971"^^xsd:string) AnnotationAssertion( "NEDEBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008621"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Adrenal Insufficiency) AnnotationAssertion(Annotation( "MESH:D000309"^^xsd:string) "Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS."^^xsd:string) AnnotationAssertion( "MESH:D000309"^^xsd:string) AnnotationAssertion( "RDO:0000918"^^xsd:string) AnnotationAssertion( "Adrenal Gland Hypofunction"^^xsd:string) AnnotationAssertion( "Adrenal Insufficiencies"^^xsd:string) AnnotationAssertion( "Hypoadrenalism"^^xsd:string) AnnotationAssertion( "ADRENAL INSUFFICIENCY, NR5A1-RELATED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008622"^^xsd:string) AnnotationAssertion(rdfs:label "Adrenal Insufficiency"^^xsd:string) SubClassOf( ) # Class: (Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome) AnnotationAssertion( "MIM:162240"^^xsd:string) AnnotationAssertion( "MESH:C563522"^^xsd:string) AnnotationAssertion( "NPDC syndrome"^^xsd:string) AnnotationAssertion( "duodenal carcinoid syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008623"^^xsd:string) AnnotationAssertion(rdfs:label "Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Aortico-Ventricular Tunnel) AnnotationAssertion( "Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-12-21T20:13:58Z"^^xsd:string) AnnotationAssertion( "MESH:D000082903"^^xsd:string) AnnotationAssertion( "Aortic-Left Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aortic-Right Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aortic-Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aortico-Left Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aortico-Right Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aorticoventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aorto-Left Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aorto-Right Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aorto-Ventricular Tunnel"^^xsd:string) AnnotationAssertion( "Aortoventricular Tunnel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008624"^^xsd:string) AnnotationAssertion(rdfs:label "Aortico-Ventricular Tunnel"^^xsd:string) SubClassOf( ) # Class: (Somatosensory Disorders) AnnotationAssertion(Annotation( "MESH:D020886"^^xsd:string) "Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation."^^xsd:string) AnnotationAssertion( "MESH:D020886"^^xsd:string) AnnotationAssertion( "Light Touch Sensation Impairment"^^xsd:string) AnnotationAssertion( "Pain Sensation Diminished"^^xsd:string) AnnotationAssertion( "Pain Sensation Diminisheds"^^xsd:string) AnnotationAssertion( "Pinprick Sensation Diminished"^^xsd:string) AnnotationAssertion( "Pinprick Sensation Diminisheds"^^xsd:string) AnnotationAssertion( "Position Sense Disorder"^^xsd:string) AnnotationAssertion( "Position Sense Disorders"^^xsd:string) AnnotationAssertion( "Proprioceptive Disorder"^^xsd:string) AnnotationAssertion( "Proprioceptive Disorders"^^xsd:string) AnnotationAssertion( "Somatic Sensation Disorder"^^xsd:string) AnnotationAssertion( "Somatic Sensation Disorders"^^xsd:string) AnnotationAssertion( "Somatosensory Disorder"^^xsd:string) AnnotationAssertion( "Thermal Sensation Disorder"^^xsd:string) AnnotationAssertion( "Thermal Sensation Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008625"^^xsd:string) AnnotationAssertion(rdfs:label "Somatosensory Disorders"^^xsd:string) SubClassOf( ) # Class: (Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia) AnnotationAssertion(Annotation( "MIM:620538"^^xsd:string) "A highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. Caused by heterozygous mutation in the SPTAN1 gene on chromosome 9q34."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-24T12:59:33Z"^^xsd:string) AnnotationAssertion( "MIM:620538"^^xsd:string) AnnotationAssertion( "SPG91"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008626"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia"^^xsd:string) SubClassOf( ) # Class: (Severe Congenital Neutropenia 10) AnnotationAssertion( "Infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Caused by compound heterozygous mutation in the SRP68 gene on chromosome 17q25."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-10-09T10:19:25Z"^^xsd:string) AnnotationAssertion( "MIM:620534"^^xsd:string) AnnotationAssertion( "Neutropenia, severe congenital, 10, autosomal recessive"^^xsd:string) AnnotationAssertion( "SCN10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008627"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Congenital Neutropenia 10"^^xsd:string) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 12) AnnotationAssertion(Annotation( "MIM:619825"^^xsd:string) "A familial thoracic aortic aneurysm caused by heterozygous mutation in the THSD4 gene on chromosome 15q23."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-04-11T09:58:23Z"^^xsd:string) AnnotationAssertion( "MIM:619825"^^xsd:string) AnnotationAssertion( "AAT12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008628"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 12"^^xsd:string) SubClassOf( ) # Class: (Vagus Nerve Injuries) AnnotationAssertion(Annotation( "MESH:D061223"^^xsd:string) "Traumatic injuries to the VAGUS NERVE. Because the vagus nerve innervates multiple organs, injuries in the nerve fibers may result in any gastrointestinal organ dysfunction downstream of the injury site."^^xsd:string) AnnotationAssertion( "MESH:D061223"^^xsd:string) AnnotationAssertion( "RDO:0010060"^^xsd:string) AnnotationAssertion( "Cranial Nerve X Injury"^^xsd:string) AnnotationAssertion( "Tenth Cranial Nerve Injuries"^^xsd:string) AnnotationAssertion( "Tenth Cranial Nerve Injury"^^xsd:string) AnnotationAssertion( "Tenth Nerve Trauma"^^xsd:string) AnnotationAssertion( "Tenth-Nerve Traumas"^^xsd:string) AnnotationAssertion( "Traumatic Tenth Nerve Palsy"^^xsd:string) AnnotationAssertion( "Traumatic Tenth-Nerve Palsies"^^xsd:string) AnnotationAssertion( "Traumatic Vagus Neuropathies"^^xsd:string) AnnotationAssertion( "Traumatic Vagus Neuropathy"^^xsd:string) AnnotationAssertion( "Vagus Nerve Avulsion"^^xsd:string) AnnotationAssertion( "Vagus Nerve Avulsions"^^xsd:string) AnnotationAssertion( "Vagus Nerve Contusion"^^xsd:string) AnnotationAssertion( "Vagus Nerve Contusions"^^xsd:string) AnnotationAssertion( "Vagus Nerve Injury"^^xsd:string) AnnotationAssertion( "Vagus Nerve Transection"^^xsd:string) AnnotationAssertion( "Vagus Nerve Transections"^^xsd:string) AnnotationAssertion( "Vagus Nerve Trauma"^^xsd:string) AnnotationAssertion( "Vagus Nerve Traumas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008629"^^xsd:string) AnnotationAssertion(rdfs:label "Vagus Nerve Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (progressive myoclonus epilepsy 5) AnnotationAssertion(Annotation( "ORPHA:402082"^^xsd:string) "This disease is a neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and sometimes mild intellectual disability."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-08T15:18:46Z"^^xsd:string) AnnotationAssertion( "EPM5"^^xsd:string) AnnotationAssertion( "PME type 5"^^xsd:string) AnnotationAssertion( "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5"^^xsd:string) AnnotationAssertion( "Progressive myoclonus epilepsy type 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008631"^^xsd:string) AnnotationAssertion(rdfs:label "progressive myoclonus epilepsy 5"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal toxicity) AnnotationAssertion(Annotation( "EFO:0011050"^^xsd:string) "This is toxicity that causes injury to the gastrointestinal tract or damages its function. It can be caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and even some medicinal plants."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-23T16:49:21Z"^^xsd:string) AnnotationAssertion( "EFO:0011050"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008632"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal toxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Congenital Torticollis) AnnotationAssertion( "MIM:189600"^^xsd:string) AnnotationAssertion( "MESH:C535425"^^xsd:string) AnnotationAssertion( "Congenital muscular torticollis"^^xsd:string) AnnotationAssertion( "Familial spasmodic torticollis"^^xsd:string) AnnotationAssertion( "Familial torticollis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008633"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Torticollis"^^xsd:string) SubClassOf( ) # Class: (Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome) AnnotationAssertion( "MIM:215250"^^xsd:string) AnnotationAssertion( "MESH:C565852"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008634"^^xsd:string) AnnotationAssertion(rdfs:label "Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cholesterol Pneumonia) AnnotationAssertion( "MIM:215030"^^xsd:string) AnnotationAssertion( "MESH:C535937"^^xsd:string) AnnotationAssertion( "Familiaere Cholesterin-Pneumonie"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008635"^^xsd:string) AnnotationAssertion(rdfs:label "Cholesterol Pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Cornea Guttata with Anterior Polar Cataract) AnnotationAssertion( "MIM:121390"^^xsd:string) AnnotationAssertion( "MESH:C535471"^^xsd:string) AnnotationAssertion( "Cornea Guttata with Anterior Polar Cataracts"^^xsd:string) AnnotationAssertion( "Familial congenital cornea guttata with anterior polar cataracts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008636"^^xsd:string) AnnotationAssertion(rdfs:label "Cornea Guttata with Anterior Polar Cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fulminant type 1 diabetes) AnnotationAssertion(Annotation( "EFO:0009758"^^xsd:string) Annotation( "PMID:17179928"^^xsd:string) "This is a subtype of idiopathic type 1 diabetes in which the process of β-cell destruction and the progression of hyperglycemia and ketoacidosis are extremely rapid."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-26T17:01:33Z"^^xsd:string) AnnotationAssertion( "EFO:0009758"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008637"^^xsd:string) AnnotationAssertion(rdfs:label "fulminant type 1 diabetes"^^xsd:string) SubClassOf( ) # Class: (Anticholinergic Syndrome) AnnotationAssertion(Annotation( "MESH:D064807"^^xsd:string) "Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome."^^xsd:string) AnnotationAssertion( "MESH:D064807"^^xsd:string) AnnotationAssertion( "Anticholinergic Syndromes"^^xsd:string) AnnotationAssertion( "Central Anticholinergic Syndrome"^^xsd:string) AnnotationAssertion( "Central Anticholinergic Syndromes"^^xsd:string) AnnotationAssertion( "Peripheral Anticholinergic Syndrome"^^xsd:string) AnnotationAssertion( "Peripheral Anticholinergic Syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008638"^^xsd:string) AnnotationAssertion(rdfs:label "Anticholinergic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Catatonia) AnnotationAssertion(Annotation( "MESH:D002389"^^xsd:string) "A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)"^^xsd:string) AnnotationAssertion( "MESH:D002389"^^xsd:string) AnnotationAssertion( "Catatonias"^^xsd:string) AnnotationAssertion( "Lethal Catatonia"^^xsd:string) AnnotationAssertion( "Lethal Catatonias"^^xsd:string) AnnotationAssertion( "Malignant Catatonia"^^xsd:string) AnnotationAssertion( "Malignant Catatonias"^^xsd:string) AnnotationAssertion( "Organic Catatonia"^^xsd:string) AnnotationAssertion( "Organic Catatonias"^^xsd:string) AnnotationAssertion( "Organic Catatonic Disorder"^^xsd:string) AnnotationAssertion( "Organic Catatonic Disorders"^^xsd:string) AnnotationAssertion( "Schizophreniform Catatonia"^^xsd:string) AnnotationAssertion( "Schizophreniform Catatonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008639"^^xsd:string) AnnotationAssertion(rdfs:label "Catatonia"^^xsd:string) SubClassOf( ) # Class: (Capillary Malformation-Arteriovenous Malformation 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:608354"^^xsd:string) AnnotationAssertion( "CMAVM1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008640"^^xsd:string) AnnotationAssertion(rdfs:label "Capillary Malformation-Arteriovenous Malformation 1"^^xsd:string) SubClassOf( ) # Class: (Pancreaticobiliary Maljunction) AnnotationAssertion(Annotation( "MESH:D000080222"^^xsd:string) "A group of anatomical variations in which the COMMON BILE DUCT and MAIN PANCREATIC DUCT are joined outside the duodenal wall often with abnormally long common channel rather than at the SPHINCTER OF ODDI."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T10:27:02Z"^^xsd:string) AnnotationAssertion( "MESH:D000080222"^^xsd:string) AnnotationAssertion( "Anomalous Pancreaticobiliary Ductal Union"^^xsd:string) AnnotationAssertion( "Anomalous Pancreaticobiliary Junction"^^xsd:string) AnnotationAssertion( "Anomalous Pancreaticobiliary Junctions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008641"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreaticobiliary Maljunction"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progeria Short Stature Pigmented Nevi) AnnotationAssertion( "MIM:176690"^^xsd:string) AnnotationAssertion( "MESH:C536422"^^xsd:string) AnnotationAssertion( "Mulvihill-Smith Syndrome"^^xsd:string) AnnotationAssertion( "Progeroid Short Stature with Pigmented Nevi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008642"^^xsd:string) AnnotationAssertion(rdfs:label "Progeria Short Stature Pigmented Nevi"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vesicular Exanthema of Swine) AnnotationAssertion(Annotation( "MESH:D014720"^^xsd:string) "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia."^^xsd:string) AnnotationAssertion( "MESH:D014720"^^xsd:string) AnnotationAssertion( "Swine Vesicular Exanthema"^^xsd:string) AnnotationAssertion( "Swine Vesicular Exanthemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008643"^^xsd:string) AnnotationAssertion(rdfs:label "Vesicular Exanthema of Swine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dysmenorrhea) AnnotationAssertion(Annotation( "MESH:D004412"^^xsd:string) "Painful menstruation."^^xsd:string) AnnotationAssertion( "MESH:D004412"^^xsd:string) AnnotationAssertion( "Dysmenorrheas"^^xsd:string) AnnotationAssertion( "Menstrual Pain"^^xsd:string) AnnotationAssertion( "Menstrual Pains"^^xsd:string) AnnotationAssertion( "Painful Menstruation"^^xsd:string) AnnotationAssertion( "Painful Menstruations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008644"^^xsd:string) AnnotationAssertion(rdfs:label "Dysmenorrhea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aurocephalosyndactyly) AnnotationAssertion( "MIM:109050"^^xsd:string) AnnotationAssertion( "MESH:C566235"^^xsd:string) AnnotationAssertion( "Auralcephalosyndactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008645"^^xsd:string) AnnotationAssertion(rdfs:label "Aurocephalosyndactyly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dowling-Degos Disease 3) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:615674"^^xsd:string) AnnotationAssertion( "DDD3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008646"^^xsd:string) AnnotationAssertion(rdfs:label "Dowling-Degos Disease 3"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) # Class: (Myoclonic Epilepsy, Hartung Type) AnnotationAssertion( "MIM:159600"^^xsd:string) AnnotationAssertion( "MESH:C563550"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008647"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsy, Hartung Type"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 4) AnnotationAssertion( "MIM:612004"^^xsd:string) AnnotationAssertion( "MESH:C567438"^^xsd:string) AnnotationAssertion( "THC4"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, Autosomal Dominant, 4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008648"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 4"^^xsd:string) SubClassOf( ) # Class: (Spermatogenic Failure 94) AnnotationAssertion(Annotation( "MIM:620850"^^xsd:string) "A male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including irregularly shaped, short, absent, coiled, and multiple tails. Caused by homozygous mutation in the CCDC146 gene on chromosome 7q11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-08T16:28:50Z"^^xsd:string) AnnotationAssertion( "MIM:620850"^^xsd:string) AnnotationAssertion( "SPGF94"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008649"^^xsd:string) AnnotationAssertion(rdfs:label "Spermatogenic Failure 94"^^xsd:string) SubClassOf( ) # Class: (Ulnar Agenesis and Endocardial Fibroelastosis) AnnotationAssertion( "MIM:276822"^^xsd:string) AnnotationAssertion( "MESH:C564756"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008650"^^xsd:string) AnnotationAssertion(rdfs:label "Ulnar Agenesis and Endocardial Fibroelastosis"^^xsd:string) SubClassOf( ) # Class: (reproductive system neoplasm) AnnotationAssertion(Annotation( "NCI:C3674"^^xsd:string) "This is a benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2022-09-13T10:57:20Z"^^xsd:string) AnnotationAssertion( "EFO:1000051"^^xsd:string) AnnotationAssertion( "neoplasm of the reproductive system"^^xsd:string) AnnotationAssertion( "reproductive neoplasm"^^xsd:string) AnnotationAssertion( "reproductive system tumor"^^xsd:string) AnnotationAssertion( "reproductive tumor"^^xsd:string) AnnotationAssertion( "tumor of the reproductive system"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008651"^^xsd:string) AnnotationAssertion(rdfs:label "reproductive system neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Postoperative Atrial Fibrillation) AnnotationAssertion( "Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA) following cardiac surgery."^^xsd:string) AnnotationAssertion( "POAF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008652"^^xsd:string) AnnotationAssertion(rdfs:label "Postoperative Atrial Fibrillation"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Selective Tooth Agenesis 4) AnnotationAssertion( "MIM:150400"^^xsd:string) AnnotationAssertion( "RDO:0012841"^^xsd:string) AnnotationAssertion( "MESH:C563634"^^xsd:string) AnnotationAssertion( "Lateral Incisors, Absence of"^^xsd:string) AnnotationAssertion( "Lateral Incisors, Pegged or Missing"^^xsd:string) AnnotationAssertion( "STHAG4"^^xsd:string) AnnotationAssertion( "Succedaneous Teeth, Agenesis Of"^^xsd:string) AnnotationAssertion( "TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008653"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 4"^^xsd:string) SubClassOf( ) # Class: (FLIEDNER-ZWEIER SYNDROME) AnnotationAssertion(Annotation( "MIM:620511"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-07T14:00:22Z"^^xsd:string) AnnotationAssertion( "MIM:620511"^^xsd:string) AnnotationAssertion( "FZS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008654"^^xsd:string) AnnotationAssertion(rdfs:label "FLIEDNER-ZWEIER SYNDROME"^^xsd:string) SubClassOf( ) # Class: (Gorlin Bushkell Jensen Syndrome) AnnotationAssertion( "MESH:C537289"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008655"^^xsd:string) AnnotationAssertion(rdfs:label "Gorlin Bushkell Jensen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (10p Deletion Syndrome (partial)) AnnotationAssertion( "RDO:0004250"^^xsd:string) AnnotationAssertion( "MESH:C538288"^^xsd:string) AnnotationAssertion( "Chromosome 10, 10p- Partial"^^xsd:string) AnnotationAssertion( "Chromosome 10, monosomy 10p"^^xsd:string) AnnotationAssertion( "chromosome 10, partial deletion (short arm)"^^xsd:string) AnnotationAssertion( "monosomy 10p"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008656"^^xsd:string) AnnotationAssertion(rdfs:label "10p Deletion Syndrome (partial)"^^xsd:string) SubClassOf( ) # Class: (Urinary Tract Abnormalities) AnnotationAssertion( "Malformations of the urinary tract (renal tubules and renal pelvis of the kidney, the ureters, the bladder, and the urethra) during development in utero."^^xsd:string) AnnotationAssertion( "RDO:9000033"^^xsd:string) AnnotationAssertion( "Anomalies of the Urinary Tract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008657"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Tract Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia) AnnotationAssertion( "MESH:C538340"^^xsd:string) AnnotationAssertion( "Aughton Sloan Milad syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008658"^^xsd:string) AnnotationAssertion(rdfs:label "Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Infantile Capillary Hemangioma) AnnotationAssertion( "MIM:602089"^^xsd:string) AnnotationAssertion( "MESH:C535860"^^xsd:string) AnnotationAssertion( "HCI"^^xsd:string) AnnotationAssertion( "hereditary capillary hemangioma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "capillary infantile hemangioma, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9008660"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Capillary Hemangioma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hereditary Congenital Facial Paresis 3) AnnotationAssertion( "RDO:9000299"^^xsd:string) AnnotationAssertion( "MIM:614744"^^xsd:string) AnnotationAssertion( "HCFP3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008662"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Congenital Facial Paresis 3"^^xsd:string) SubClassOf( ) # Class: (Infantile Liver Failure Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-10-25T10:46:25Z"^^xsd:string) AnnotationAssertion( "MIM:618641"^^xsd:string) AnnotationAssertion( "ILFS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008663"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Liver Failure Syndrome 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Specific Learning Disorder) AnnotationAssertion(Annotation( "MESH:D000067559"^^xsd:string) "Diagnosed when there are specific deficits in an individual’s ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individual’s performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from DSM-V)"^^xsd:string) AnnotationAssertion( "MESH:D000067559"^^xsd:string) AnnotationAssertion( "RDO:0016032"^^xsd:string) AnnotationAssertion( "Specific Learning Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008665"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Learning Disorder"^^xsd:string) SubClassOf( ) # Class: (Trisomy 18-Like Syndrome) AnnotationAssertion( "MIM:601161"^^xsd:string) AnnotationAssertion( "MESH:C563382"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008666"^^xsd:string) AnnotationAssertion(rdfs:label "Trisomy 18-Like Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myoclonic Epilepsy of Lafora 2) AnnotationAssertion(Annotation( "MIM:620681"^^xsd:string) "A myoclonic epilepsy of Lafora caused by homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:31:52Z"^^xsd:string) AnnotationAssertion( "MIM:620681"^^xsd:string) AnnotationAssertion( "EPM2B"^^xsd:string) AnnotationAssertion( "Lafora disease 2"^^xsd:string) AnnotationAssertion( "MELF2"^^xsd:string) AnnotationAssertion( "progressive myoclonic epilepsy 2B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008667"^^xsd:string) AnnotationAssertion(rdfs:label "Myoclonic Epilepsy of Lafora 2"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3) AnnotationAssertion( "MIM:616373"^^xsd:string) AnnotationAssertion( "PFBMFT3"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008668"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3"^^xsd:string) SubClassOf( ) # Class: (Glucocorticoid Receptor Deficiency) AnnotationAssertion( "MIM:615962"^^xsd:string) AnnotationAssertion( "MESH:C564221"^^xsd:string) AnnotationAssertion( "NCI:C126809"^^xsd:string) AnnotationAssertion( "RDO:0013257"^^xsd:string) AnnotationAssertion( "Body Composition, Beneficial"^^xsd:string) AnnotationAssertion( "Cortisol Resistance from Glucocorticoid Receptor Defect"^^xsd:string) AnnotationAssertion( "GCCR"^^xsd:string) AnnotationAssertion( "GCCR Deficiency"^^xsd:string) AnnotationAssertion( "GCR Deficiency"^^xsd:string) AnnotationAssertion( "GLUCOCORTICOID RESISTANCE, CELLULAR"^^xsd:string) AnnotationAssertion( "GLUCOCORTICOID RESISTANCE, GENERALIZED"^^xsd:string) AnnotationAssertion( "GRL Deficiency"^^xsd:string) AnnotationAssertion( "Glucocorticoid Resistance"^^xsd:string) AnnotationAssertion( "Glucocorticoid Resistance, Relative"^^xsd:string) AnnotationAssertion( "Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008669"^^xsd:string) AnnotationAssertion(rdfs:label "Glucocorticoid Receptor Deficiency"^^xsd:string) SubClassOf( ) # Class: (Combined Inflammatory and Immunologic Defect) AnnotationAssertion( "MESH:C565684"^^xsd:string) AnnotationAssertion( "RDO:0014254"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008670"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Inflammatory and Immunologic Defect"^^xsd:string) SubClassOf( ) # Class: (T-Lymphocytopenia) AnnotationAssertion( "MESH:C536783"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008671"^^xsd:string) AnnotationAssertion(rdfs:label "T-Lymphocytopenia"^^xsd:string) SubClassOf( ) # Class: (Anterior Capsular Rupture, Ocular) AnnotationAssertion(Annotation( "MESH:D057971"^^xsd:string) "A breach in the continuity of the ANTERIOR CHAMBER of the eyeball."^^xsd:string) AnnotationAssertion( "MESH:D057971"^^xsd:string) AnnotationAssertion( "RDO:0007808"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008672"^^xsd:string) AnnotationAssertion(rdfs:label "Anterior Capsular Rupture, Ocular"^^xsd:string) SubClassOf( ) # Class: (Diamond-Blackfan Anemia with Microtia and Cleft Palate) AnnotationAssertion( "MESH:C565256"^^xsd:string) AnnotationAssertion( "RDO:0013949"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008673"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan Anemia with Microtia and Cleft Palate"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thoracic Dysplasia-Hydrocephalus Syndrome) AnnotationAssertion( "MIM:273730"^^xsd:string) AnnotationAssertion( "MESH:C564774"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008674"^^xsd:string) AnnotationAssertion(rdfs:label "Thoracic Dysplasia-Hydrocephalus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dyskinesias) AnnotationAssertion(Annotation( "MESH:D020820"^^xsd:string) "Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES."^^xsd:string) AnnotationAssertion( "MESH:D020820"^^xsd:string) AnnotationAssertion( "Abnormal Movement"^^xsd:string) AnnotationAssertion( "Asterixis"^^xsd:string) AnnotationAssertion( "Ballismus"^^xsd:string) AnnotationAssertion( "Dyskinesia"^^xsd:string) AnnotationAssertion( "Hemiballism"^^xsd:string) AnnotationAssertion( "Hemiballismus"^^xsd:string) AnnotationAssertion( "Involuntary Movement"^^xsd:string) AnnotationAssertion( "Involuntary Movements"^^xsd:string) AnnotationAssertion( "abnormal movements"^^xsd:string) AnnotationAssertion( "Linguofacial Dyskinesias"^^xsd:string) AnnotationAssertion( "Oral facial Dyskinesia"^^xsd:string) AnnotationAssertion( "Oral-facial Dyskinesias"^^xsd:string) AnnotationAssertion( "Orofacial Dyskinesia"^^xsd:string) AnnotationAssertion( "Orofacial Dyskinesias"^^xsd:string) AnnotationAssertion( "Tardive Oral Dyskinesia"^^xsd:string) AnnotationAssertion( "tardive oral dyskinesias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Linguofacial Dyskinesia"^^xsd:string) AnnotationAssertion( "DOID:9008675"^^xsd:string) AnnotationAssertion(rdfs:label "Dyskinesias"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hexosaminidase A Deficiency, Adult Type) AnnotationAssertion( "MESH:C564783"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008676"^^xsd:string) AnnotationAssertion(rdfs:label "Hexosaminidase A Deficiency, Adult Type"^^xsd:string) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema) AnnotationAssertion( "MIM:609352"^^xsd:string) AnnotationAssertion( "MESH:C563730"^^xsd:string) AnnotationAssertion( "EBS2E"^^xsd:string) AnnotationAssertion( "epidermolysis bullosa simplex with migratory circinate erythema"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008678"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Posterior Column Ataxia with Retinitis Pigmentosa) AnnotationAssertion( "MIM:609033"^^xsd:string) AnnotationAssertion( "MESH:C536343"^^xsd:string) AnnotationAssertion( "AXPC1"^^xsd:string) AnnotationAssertion( "PCARP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008679"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Column Ataxia with Retinitis Pigmentosa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Tract Infections) AnnotationAssertion(Annotation( "MESH:D012141"^^xsd:string) "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases."^^xsd:string) AnnotationAssertion( "MESH:D012141"^^xsd:string) AnnotationAssertion( "RDO:0000329"^^xsd:string) AnnotationAssertion( "Respiratory Infection, Upper"^^xsd:string) AnnotationAssertion( "Respiratory Infections"^^xsd:string) AnnotationAssertion( "Respiratory Tract Infection"^^xsd:string) AnnotationAssertion( "Upper Respiratory Infections"^^xsd:string) AnnotationAssertion( "Upper Respiratory Tract Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008680"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Tract Infections"^^xsd:string) SubClassOf( ) # Class: (Deafness) AnnotationAssertion(Annotation( "MESH:D003638"^^xsd:string) "A general term for the complete loss of the ability to hear from both ears."^^xsd:string) AnnotationAssertion( "EFO:0001063"^^xsd:string) AnnotationAssertion( "MESH:D003638"^^xsd:string) AnnotationAssertion( "NCI:C27644"^^xsd:string) AnnotationAssertion( "Acquired Deafness"^^xsd:string) AnnotationAssertion( "Bilateral Deafness"^^xsd:string) AnnotationAssertion( "Complete Hearing Loss"^^xsd:string) AnnotationAssertion( "Deaf Mutism"^^xsd:string) AnnotationAssertion( "Extreme Hearing Loss"^^xsd:string) AnnotationAssertion( "Prelingual Deafness"^^xsd:string) AnnotationAssertion( "DEAFNESS WITH ANATOMICAL INNER EAR ANOMALIES"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008681"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness"^^xsd:string) SubClassOf( ) # Class: (Velopharyngeal Insufficiency) AnnotationAssertion(Annotation( "MESH:D014681"^^xsd:string) "Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech."^^xsd:string) AnnotationAssertion( "MIM:167500"^^xsd:string) AnnotationAssertion( "MESH:D014681"^^xsd:string) AnnotationAssertion( "Inadequate Velopharyngeal Closure"^^xsd:string) AnnotationAssertion( "Palatopharyngeal Incompetence"^^xsd:string) AnnotationAssertion( "Velopharyngeal Closures, Inadequate"^^xsd:string) AnnotationAssertion( "Velopharyngeal Incompetence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008682"^^xsd:string) AnnotationAssertion(rdfs:label "Velopharyngeal Insufficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polysubstance abuse) AnnotationAssertion(Annotation( "PMID:25671013"^^xsd:string) Annotation( "https://www.verywellhealth.com/polysubstance-abuse-5212228"^^xsd:string) "This is a multiple substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. It features the recurring misuse or abuse of two or more drugs in combination despite negative consequences."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-23T17:12:55Z"^^xsd:string) AnnotationAssertion( "PMID:14870957"^^xsd:string) AnnotationAssertion( "multiple substance abuse"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008683"^^xsd:string) AnnotationAssertion(rdfs:label "polysubstance abuse"^^xsd:string) SubClassOf( ) # Class: (Symphalangism of Toes) AnnotationAssertion( "MESH:C566101"^^xsd:string) AnnotationAssertion( "MIM:185600"^^xsd:string) AnnotationAssertion( "MONDO:0008506"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008684"^^xsd:string) AnnotationAssertion(rdfs:label "Symphalangism of Toes"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification 9) AnnotationAssertion(Annotation( "MIM:620786"^^xsd:string) "This disease is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-09T15:39:04Z"^^xsd:string) AnnotationAssertion( "MIM:620786"^^xsd:string) AnnotationAssertion( "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "IBGC9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008685"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification 9"^^xsd:string) SubClassOf( ) # Class: (Odontoonychodermal Dysplasia) AnnotationAssertion( "MIM:257980"^^xsd:string) AnnotationAssertion( "MESH:C537742"^^xsd:string) AnnotationAssertion( "ECTD16"^^xsd:string) AnnotationAssertion( "OODD"^^xsd:string) AnnotationAssertion( "ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008686"^^xsd:string) AnnotationAssertion(rdfs:label "Odontoonychodermal Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Dominant Nonsyndromic Deafness 80) AnnotationAssertion(Annotation( "MIM:619274"^^xsd:string) "This disease is a nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves; caused by heterozygous mutation in the GREB1L gene on chromosome 18q11."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-04-15T10:51:43Z"^^xsd:string) AnnotationAssertion( "GREB1L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:619274"^^xsd:string) AnnotationAssertion( "DFNA80"^^xsd:string) AnnotationAssertion( "autosomal dominant deafness 80"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008687"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Nonsyndromic Deafness 80"^^xsd:string) SubClassOf( ) # Class: (Podocyte Diseases) AnnotationAssertion( "A set of diseases affecting the podocytes of the kidney glomerulus, that may or may not be inflammatory."^^xsd:string) AnnotationAssertion( "RDO:9000075"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008688"^^xsd:string) AnnotationAssertion(rdfs:label "Podocyte Diseases"^^xsd:string) SubClassOf( ) # Class: (Facial Hypertrichosis) AnnotationAssertion( "MIM:134000"^^xsd:string) AnnotationAssertion( "MESH:C565029"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008689"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Hypertrichosis"^^xsd:string) SubClassOf( ) # Class: (Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails) AnnotationAssertion( "MIM:600399"^^xsd:string) AnnotationAssertion( "MESH:C563941"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008690"^^xsd:string) AnnotationAssertion(rdfs:label "Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Liver Injury) AnnotationAssertion( "Damage to any part of the liver caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction"^^xsd:string) AnnotationAssertion( "RDO:9000017"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008691"^^xsd:string) AnnotationAssertion(rdfs:label "Liver Injury"^^xsd:string) SubClassOf( ) # Class: (Aneuploidy) AnnotationAssertion(Annotation( "MESH:D000782"^^xsd:string) "The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1)."^^xsd:string) AnnotationAssertion( "MESH:D000782"^^xsd:string) AnnotationAssertion( "RDO:0000372"^^xsd:string) AnnotationAssertion( "Aneuploid"^^xsd:string) AnnotationAssertion( "Aneuploid Cell"^^xsd:string) AnnotationAssertion( "Aneuploid Cells"^^xsd:string) AnnotationAssertion( "Aneuploidies"^^xsd:string) AnnotationAssertion( "Aneuploids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008692"^^xsd:string) AnnotationAssertion(rdfs:label "Aneuploidy"^^xsd:string) SubClassOf( ) # Class: (Familial Atrial Fibrillation 11) AnnotationAssertion( "RDO:9000187"^^xsd:string) AnnotationAssertion( "MIM:614049"^^xsd:string) AnnotationAssertion( "ATFB11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008693"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Atrial Fibrillation 11"^^xsd:string) SubClassOf( ) # Class: (Irresistible Sleepiness, Cataplexy and Onset of Sleep in Desynchronized Phase) AnnotationAssertion( "MESH:C538497"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008694"^^xsd:string) AnnotationAssertion(rdfs:label "Irresistible Sleepiness, Cataplexy and Onset of Sleep in Desynchronized Phase"^^xsd:string) SubClassOf( ) # Class: (Agenesis of Cervical Vertebrae) AnnotationAssertion( "MIM:214290"^^xsd:string) AnnotationAssertion( "MESH:C562952"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008695"^^xsd:string) AnnotationAssertion(rdfs:label "Agenesis of Cervical Vertebrae"^^xsd:string) SubClassOf( ) # Class: (Selective Tooth Agenesis with Orofacial Cleft) AnnotationAssertion( "RDO:0015184"^^xsd:string) AnnotationAssertion( "MESH:C566994"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008696"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis with Orofacial Cleft"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia) AnnotationAssertion( "MIM:248910"^^xsd:string) AnnotationAssertion( "MESH:C536033"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008697"^^xsd:string) AnnotationAssertion(rdfs:label "Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED) AnnotationAssertion(Annotation( "MIM:301094"^^xsd:string) "This disease is an X-linked dominant disorder characterized by global developmental delay with hypotonia, motor delay, impaired intellectual development, and speech and language delay. Affected individuals also have dysmorphic facial features, gastrointestinal issues, and ocular anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-05-02T10:12:59Z"^^xsd:string) AnnotationAssertion( "MIM:301094"^^xsd:string) AnnotationAssertion( "HIJRS"^^xsd:string) AnnotationAssertion( "Hijazi-Reis syndrome"^^xsd:string) AnnotationAssertion( "NEDGFAX"^^xsd:string) AnnotationAssertion( "X-linked neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008698"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Ermine Phenotype) AnnotationAssertion( "MIM:227010"^^xsd:string) AnnotationAssertion( "MESH:C535508"^^xsd:string) AnnotationAssertion( "Cutaneous albinism hermine phenotype"^^xsd:string) AnnotationAssertion( "O'Doherty syndrome"^^xsd:string) AnnotationAssertion( "Pigmentary disorder with hearing loss"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008699"^^xsd:string) AnnotationAssertion(rdfs:label "Ermine Phenotype"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Lipochrome Histiocytosis) AnnotationAssertion( "MIM:235900"^^xsd:string) AnnotationAssertion( "MESH:C562738"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008700"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Lipochrome Histiocytosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ameloonychohypohidrotic Syndrome) AnnotationAssertion( "MIM:104570"^^xsd:string) AnnotationAssertion( "MESH:C538245"^^xsd:string) AnnotationAssertion( "Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008701"^^xsd:string) AnnotationAssertion(rdfs:label "Ameloonychohypohidrotic Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Idiopathic Basal Ganglia Calcification, Childhood Onset) AnnotationAssertion( "MIM:114100"^^xsd:string) AnnotationAssertion( "MESH:C536276"^^xsd:string) AnnotationAssertion( "IBGC, childhood onset"^^xsd:string) AnnotationAssertion( "bilateral striopallidodentate calcinosis, childhood onset"^^xsd:string) AnnotationAssertion( "idiopathic nonarteriosclerotic cerebral calcification, childhood onset"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008702"^^xsd:string) AnnotationAssertion(rdfs:label "Idiopathic Basal Ganglia Calcification, Childhood Onset"^^xsd:string) SubClassOf( ) # Class: (Tryptophanuria with Dwarfism) AnnotationAssertion( "MIM:276100"^^xsd:string) AnnotationAssertion( "MESH:C562658"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008703"^^xsd:string) AnnotationAssertion(rdfs:label "Tryptophanuria with Dwarfism"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma) AnnotationAssertion( "MIM:611863"^^xsd:string) AnnotationAssertion( "MESH:C567512"^^xsd:string) AnnotationAssertion( "RDO:0015572"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008704"^^xsd:string) AnnotationAssertion(rdfs:label "Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Angiotensin I-Converting Enzyme, Benign Serum Increase) AnnotationAssertion( "RDO:9000700"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008705"^^xsd:string) AnnotationAssertion(rdfs:label "Angiotensin I-Converting Enzyme, Benign Serum Increase"^^xsd:string) SubClassOf( ) # Class: (Menke-Hennekam Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T09:41:55Z"^^xsd:string) AnnotationAssertion( "MIM:PS618332"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008706"^^xsd:string) AnnotationAssertion(rdfs:label "Menke-Hennekam Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Viremia) AnnotationAssertion(Annotation( "MESH:D014766"^^xsd:string) "The presence of viruses in the blood."^^xsd:string) AnnotationAssertion( "MESH:D014766"^^xsd:string) AnnotationAssertion( "Viremias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008707"^^xsd:string) AnnotationAssertion(rdfs:label "Viremia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Rasmussen Subacute Encephalitis) AnnotationAssertion( "MESH:C535291"^^xsd:string) AnnotationAssertion( "NCI:C125384"^^xsd:string) AnnotationAssertion( "Subacute focal encephalitis of Rasmussen"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008708"^^xsd:string) AnnotationAssertion(rdfs:label "Rasmussen Subacute Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Senior-Loken Syndrome 6) AnnotationAssertion( "MIM:610189"^^xsd:string) AnnotationAssertion( "MESH:C565708"^^xsd:string) AnnotationAssertion( "SLSN6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008709"^^xsd:string) AnnotationAssertion(rdfs:label "Senior-Loken Syndrome 6"^^xsd:string) SubClassOf( ) # Class: (Xeroderma Pigmentosum, Autosomal Dominant, Mild) AnnotationAssertion( "MIM:194400"^^xsd:string) AnnotationAssertion( "MESH:C565989"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008710"^^xsd:string) AnnotationAssertion(rdfs:label "Xeroderma Pigmentosum, Autosomal Dominant, Mild"^^xsd:string) SubClassOf( ) # Class: (Dilated Cardiomyopathy 2K) AnnotationAssertion(Annotation( "MIM:620894"^^xsd:string) "A severe form of autosomal recessive CMD, characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. Caused by homozygous or compound heterozygous mutation within the GRINL1A complex transcription unit on chromosome 15q21, affecting the MYZAP and or GCOM1 genes."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T18:45:33Z"^^xsd:string) AnnotationAssertion( "MIM:620894"^^xsd:string) AnnotationAssertion( "CMD2K"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008711"^^xsd:string) AnnotationAssertion(rdfs:label "Dilated Cardiomyopathy 2K"^^xsd:string) SubClassOf( ) # Class: (Young Hughes Syndrome) AnnotationAssertion( "MESH:C536715"^^xsd:string) AnnotationAssertion( "RDO:0002376"^^xsd:string) AnnotationAssertion( "Sex-linked mental retardation, short stature, obesity and hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008712"^^xsd:string) AnnotationAssertion(rdfs:label "Young Hughes Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malignant Mixed Tumor) AnnotationAssertion( "A malignant tumor composed of more than one type of neoplastic tissue. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1000356"^^xsd:string) AnnotationAssertion( "MESH:D018198"^^xsd:string) AnnotationAssertion( "Malignant Mixed Tumors"^^xsd:string) AnnotationAssertion( "Malignant chondroid syringoma"^^xsd:string) AnnotationAssertion( "Malignant mixed salivary gland tumor"^^xsd:string) AnnotationAssertion( "Mixed tumor, malignant"^^xsd:string) AnnotationAssertion( "Mixed tumor, salivary gland type, malignant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008713"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Mixed Tumor"^^xsd:string) SubClassOf( ) # Class: (Fetal Hydantoin Syndrome) AnnotationAssertion( "MESH:C537922"^^xsd:string) AnnotationAssertion( "RDO:0003839"^^xsd:string) AnnotationAssertion( "Dilantin Embryopathy"^^xsd:string) AnnotationAssertion( "Phenytoin Embryopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008714"^^xsd:string) AnnotationAssertion(rdfs:label "Fetal Hydantoin Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Familial Progressive Scleroderma) AnnotationAssertion( "MIM:181750"^^xsd:string) AnnotationAssertion( "CREST syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "systemic sclerosis, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9008716"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Progressive Scleroderma"^^xsd:string) SubClassOf( ) # Class: (Rib Fractures) AnnotationAssertion(Annotation( "MESH:D012253"^^xsd:string) "Fractures of any of the RIBS."^^xsd:string) AnnotationAssertion( "EFO:0009620"^^xsd:string) AnnotationAssertion( "MESH:D012253"^^xsd:string) AnnotationAssertion( "RDO:0006501"^^xsd:string) AnnotationAssertion( "Rib Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008717"^^xsd:string) AnnotationAssertion(rdfs:label "Rib Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Puerperal Infection) AnnotationAssertion(Annotation( "MESH:D011645"^^xsd:string) "An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth."^^xsd:string) AnnotationAssertion( "EFO:1001407"^^xsd:string) AnnotationAssertion( "MESH:D011645"^^xsd:string) AnnotationAssertion( "RDO:0006435"^^xsd:string) AnnotationAssertion( "Puerperal Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008718"^^xsd:string) AnnotationAssertion(rdfs:label "Puerperal Infection"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig) AnnotationAssertion( "MIM:218649"^^xsd:string) AnnotationAssertion( "MESH:C565664"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008719"^^xsd:string) AnnotationAssertion(rdfs:label "Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Stoelinga de Koomen Davis Syndrome) AnnotationAssertion( "MESH:C537496"^^xsd:string) AnnotationAssertion( "Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects"^^xsd:string) AnnotationAssertion( "Non erupted teeth with maxillary hypoplasia and genu valgum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008720"^^xsd:string) AnnotationAssertion(rdfs:label "Stoelinga de Koomen Davis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Muscular Dystrophy, Mabry Type) AnnotationAssertion( "MIM:310000"^^xsd:string) AnnotationAssertion( "RDO:0013169"^^xsd:string) AnnotationAssertion( "MESH:C564096"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008721"^^xsd:string) AnnotationAssertion(rdfs:label "Muscular Dystrophy, Mabry Type"^^xsd:string) SubClassOf( ) # Class: (Mastodynia) AnnotationAssertion(Annotation( "MESH:D059373"^^xsd:string) "Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating."^^xsd:string) AnnotationAssertion( "EFO:1001366"^^xsd:string) AnnotationAssertion( "MESH:D059373"^^xsd:string) AnnotationAssertion( "Breast Pain"^^xsd:string) AnnotationAssertion( "Breast Pains"^^xsd:string) AnnotationAssertion( "Mammalgia"^^xsd:string) AnnotationAssertion( "Mammalgias"^^xsd:string) AnnotationAssertion( "Mastalgia"^^xsd:string) AnnotationAssertion( "Mastalgias"^^xsd:string) AnnotationAssertion( "Mastodynias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008722"^^xsd:string) AnnotationAssertion(rdfs:label "Mastodynia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Skull Base Neoplasms) AnnotationAssertion( "Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (SKULL NEOPLASMS)."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:3842"^^xsd:string) AnnotationAssertion( "MESH:D019292"^^xsd:string) AnnotationAssertion( "skull base neoplasm"^^xsd:string) AnnotationAssertion( "skull base neoplasms"^^xsd:string) AnnotationAssertion( "tumors of skull base"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008724"^^xsd:string) AnnotationAssertion(rdfs:label "Skull Base Neoplasms"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neoplasm Micrometastasis) AnnotationAssertion(Annotation( "MESH:D061206"^^xsd:string) "Newly arising secondary tumors so small they are difficult to detect by physical examination or routine imaging techniques."^^xsd:string) AnnotationAssertion( "EFO:0009710"^^xsd:string) AnnotationAssertion( "MESH:D061206"^^xsd:string) AnnotationAssertion( "RDO:0010054"^^xsd:string) AnnotationAssertion( "Micrometastases"^^xsd:string) AnnotationAssertion( "Micrometastasis"^^xsd:string) AnnotationAssertion( "Neoplasm Micrometastase"^^xsd:string) AnnotationAssertion( "Neoplasm Micrometastases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008726"^^xsd:string) AnnotationAssertion(rdfs:label "Neoplasm Micrometastasis"^^xsd:string) SubClassOf( ) # Class: (Ige Responsiveness, Atopic) AnnotationAssertion( "MIM:147050"^^xsd:string) AnnotationAssertion( "MESH:C564133"^^xsd:string) AnnotationAssertion( "RDO:0013192"^^xsd:string) AnnotationAssertion( "Atopy, Resistance to"^^xsd:string) AnnotationAssertion( "IGEL"^^xsd:string) AnnotationAssertion( "IGER"^^xsd:string) AnnotationAssertion( "IgE, LEVEL OF"^^xsd:string) AnnotationAssertion( "Ige Response Underlying Allergic Asthma and Rhinitis"^^xsd:string) AnnotationAssertion( "Immunoglobulin E, Basic Level of, in Serum"^^xsd:string) AnnotationAssertion( "ATOPIC HYPERSENSITIVITY"^^xsd:string) AnnotationAssertion( "ATOPY, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "IgE, Elevated Level of"^^xsd:string) AnnotationAssertion( "DOID:9008727"^^xsd:string) AnnotationAssertion(rdfs:label "Ige Responsiveness, Atopic"^^xsd:string) SubClassOf( ) # Class: (PREMATURE OVARIAN FAILURE 24) AnnotationAssertion(Annotation( "MIM:_620840"^^xsd:string) "This disease is characterized by the development of secondary amenorrhea in the fourth decade of life, with a dearth of antral follicles detected on ultrasound."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-17T12:23:32Z"^^xsd:string) AnnotationAssertion( "MIM:620840"^^xsd:string) AnnotationAssertion( "POF24"^^xsd:string) AnnotationAssertion( "primary ovarian insufficiency 24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008728"^^xsd:string) AnnotationAssertion(rdfs:label "PREMATURE OVARIAN FAILURE 24"^^xsd:string) SubClassOf( ) # Class: (Mitochondrial Trifunctional Protein Deficiency 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-31T08:44:02Z"^^xsd:string) AnnotationAssertion( "MIM:609015"^^xsd:string) AnnotationAssertion( "MTPD1"^^xsd:string) AnnotationAssertion( "trifunctional protein deficiency, type 1"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008729"^^xsd:string) AnnotationAssertion(rdfs:label "Mitochondrial Trifunctional Protein Deficiency 1"^^xsd:string) SubClassOf( ) # Class: (Infectious Canine Hepatitis) AnnotationAssertion(Annotation( "MESH:D006522"^^xsd:string) "A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA."^^xsd:string) AnnotationAssertion( "MESH:D006522"^^xsd:string) AnnotationAssertion( "Canine Infectious Hepatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008730"^^xsd:string) AnnotationAssertion(rdfs:label "Infectious Canine Hepatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Craniofacial Abnormalities) AnnotationAssertion(Annotation( "MESH:D019465"^^xsd:string) "Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones."^^xsd:string) AnnotationAssertion( "MESH:D019465"^^xsd:string) AnnotationAssertion( "RDO:0000261"^^xsd:string) AnnotationAssertion( "Craniofacial Abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008731"^^xsd:string) AnnotationAssertion(rdfs:label "Craniofacial Abnormalities"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23) AnnotationAssertion(Annotation( "MIM:618138"^^xsd:string) "A disease characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-11-09T16:42:15Z"^^xsd:string) AnnotationAssertion( "MIM:618138"^^xsd:string) AnnotationAssertion( "Autosomal Recessive Limb-Girdle Muscular Dystrophy 23"^^xsd:string) AnnotationAssertion( "LGMDR23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008732"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23"^^xsd:string) SubClassOf( ) # Class: (Obesity, Hyperphagia, and Developmental Delay) AnnotationAssertion( "MIM:613886"^^xsd:string) AnnotationAssertion( "NTRK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MESH:C563938"^^xsd:string) AnnotationAssertion( "OBHD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008733"^^xsd:string) AnnotationAssertion(rdfs:label "Obesity, Hyperphagia, and Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 121 with autoinflammation) AnnotationAssertion(Annotation( "MIM:620807"^^xsd:string) "A complex immunologic disorder characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia. Caused by heterozygous mutation in the PSMB10 gene on chromosome 16q22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-08T16:33:39Z"^^xsd:string) AnnotationAssertion( "MIM:620807"^^xsd:string) AnnotationAssertion( "IMD121"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008734"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 121 with autoinflammation"^^xsd:string) SubClassOf( ) # Class: (Developmental Dysplasia of the Hip 3) AnnotationAssertion(Annotation( "MIM:620690"^^xsd:string) "A disease characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. Caused by heterozygous mutation in the LRP1 gene on chromosome 12q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:44:13Z"^^xsd:string) AnnotationAssertion( "MIM:620690"^^xsd:string) AnnotationAssertion( "DDH3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008735"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Dysplasia of the Hip 3"^^xsd:string) SubClassOf( ) # Class: (Chromosome 13q-Mosaicism) AnnotationAssertion( "MESH:C535486"^^xsd:string) AnnotationAssertion( "RDO:0000623"^^xsd:string) AnnotationAssertion( "Mosiacism of chromosome 13q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008736"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 13q-Mosaicism"^^xsd:string) SubClassOf( ) # Class: (VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS) AnnotationAssertion(Annotation( "MIM:619227"^^xsd:string) "This is a syndrome characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-16T12:54:50Z"^^xsd:string) AnnotationAssertion( "MIM:619227"^^xsd:string) AnnotationAssertion( "VCTERL"^^xsd:string) AnnotationAssertion( "VCTERL SYNDROME"^^xsd:string) AnnotationAssertion( "WBP11 SPLICEOSOMOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008737"^^xsd:string) AnnotationAssertion(rdfs:label "VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Athetosis) AnnotationAssertion(Annotation( "MESH:D001264"^^xsd:string) "A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)"^^xsd:string) AnnotationAssertion( "MESH:D001264"^^xsd:string) AnnotationAssertion( "Athetoid Movement"^^xsd:string) AnnotationAssertion( "Athetoid Movements"^^xsd:string) AnnotationAssertion( "Athetoses"^^xsd:string) AnnotationAssertion( "Hammond Disease"^^xsd:string) AnnotationAssertion( "Hammond Diseases"^^xsd:string) AnnotationAssertion( "Hammond's Disease"^^xsd:string) AnnotationAssertion( "Hammond's Diseases"^^xsd:string) AnnotationAssertion( "Hammonds Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008739"^^xsd:string) AnnotationAssertion(rdfs:label "Athetosis"^^xsd:string) SubClassOf( ) # Class: (Subacute Cerebellar Degeneration) AnnotationAssertion( "MESH:C535352"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008740"^^xsd:string) AnnotationAssertion(rdfs:label "Subacute Cerebellar Degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome) AnnotationAssertion( "MESH:C565178"^^xsd:string) AnnotationAssertion( "MIM:PS619115"^^xsd:string) AnnotationAssertion( "OI/EDS combined syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008741"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Zazam Sheriff Phillips Syndrome) AnnotationAssertion( "MESH:C536723"^^xsd:string) AnnotationAssertion( "RDO:0002386"^^xsd:string) AnnotationAssertion( "Aniridia, ectopia lentis, abnormal upper incisors and mental retardation"^^xsd:string) AnnotationAssertion( "Aniridia, lens luxation, mental retardation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008742"^^xsd:string) AnnotationAssertion(rdfs:label "Zazam Sheriff Phillips Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Deafness, Congenital Heart Defects, and Posterior Embryotoxon) AnnotationAssertion( "MIM:617992"^^xsd:string) AnnotationAssertion( "MESH:C566604"^^xsd:string) AnnotationAssertion( "DCHE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008743"^^xsd:string) AnnotationAssertion(rdfs:label "Deafness, Congenital Heart Defects, and Posterior Embryotoxon"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MHC CLASS II DEFICIENCY 3) AnnotationAssertion(Annotation( "MIM:620816"^^xsd:string) "This disease is a rare autosomal recessive immunodeficiency characterized by the onset of recurrent and persistent infections from birth. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and -DP) on the surface of antigen-presenting cells."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-14T10:31:28Z"^^xsd:string) AnnotationAssertion( "MIM:620816"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C"^^xsd:string) AnnotationAssertion( "MHC2D3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008744"^^xsd:string) AnnotationAssertion(rdfs:label "MHC CLASS II DEFICIENCY 3"^^xsd:string) SubClassOf( ) # Class: (MHC CLASS II DEFICIENCY 2) AnnotationAssertion(Annotation( "MIM:620815"^^xsd:string) "This disease is an immunodeficiency characterized by the onset of recurrent infections (bacterial, viral, fungal, parasitic) in early infancy. Features include failure to thrive, chronic diarrhea, and pulmonary infections. Laboratory studies show decreased numbers of CD4+ T cells with increased CD8+ T cells, impaired T-cell responses, hypogammaglobulinemia, inverted CD4:CD8 ratio, and decreased or absent expression of type II MHC antigens (e.g., HLA-DR, -DQ, and -DP) on the cell surface."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-06-14T10:23:12Z"^^xsd:string) AnnotationAssertion( "MIM:620815"^^xsd:string) AnnotationAssertion( "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B"^^xsd:string) AnnotationAssertion( "MHC2D2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008745"^^xsd:string) AnnotationAssertion(rdfs:label "MHC CLASS II DEFICIENCY 2"^^xsd:string) SubClassOf( ) # Class: (Pasteurellaceae Infections) AnnotationAssertion(Annotation( "MESH:D016871"^^xsd:string) "Infections with bacteria of the family PASTEURELLACEAE."^^xsd:string) AnnotationAssertion( "EFO:1001386"^^xsd:string) AnnotationAssertion( "MESH:D016871"^^xsd:string) AnnotationAssertion( "Pasteurellaceae Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008746"^^xsd:string) AnnotationAssertion(rdfs:label "Pasteurellaceae Infections"^^xsd:string) SubClassOf( ) # Class: (Amyotrophic Dystonic Paraplegia) AnnotationAssertion( "MIM:105300"^^xsd:string) AnnotationAssertion( "MESH:C566292"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008747"^^xsd:string) AnnotationAssertion(rdfs:label "Amyotrophic Dystonic Paraplegia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Lactation Disorders) AnnotationAssertion(Annotation( "MESH:D007775"^^xsd:string) "Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY."^^xsd:string) AnnotationAssertion( "MESH:D007775"^^xsd:string) AnnotationAssertion( "Hypogalactia"^^xsd:string) AnnotationAssertion( "Hypogalactias"^^xsd:string) AnnotationAssertion( "Lactation Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008748"^^xsd:string) AnnotationAssertion(rdfs:label "Lactation Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Leukonychia Totalis) AnnotationAssertion( "MESH:C535889"^^xsd:string) AnnotationAssertion( "RDO:0001249"^^xsd:string) AnnotationAssertion( "Hereditary white nails"^^xsd:string) AnnotationAssertion( "Leukonychia Punctata"^^xsd:string) AnnotationAssertion( "Porcelain nails"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008749"^^xsd:string) AnnotationAssertion(rdfs:label "Leukonychia Totalis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Chromosome 9, Trisomy 9q32) AnnotationAssertion( "MESH:C535453"^^xsd:string) AnnotationAssertion( "RDO:0000573"^^xsd:string) AnnotationAssertion( "Duplication 9q32"^^xsd:string) AnnotationAssertion( "Trisomy 9q32"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008750"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 9, Trisomy 9q32"^^xsd:string) SubClassOf( ) # Class: (Aortic Injuries) AnnotationAssertion( "RDO:9000716"^^xsd:string) AnnotationAssertion( "aorta injury"^^xsd:string) AnnotationAssertion( "aortic injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008752"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Injuries"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intravenous Substance Abuse) AnnotationAssertion(Annotation( "MESH:D015819"^^xsd:string) "Abuse, overuse, or misuse of a substance by its injection into a vein."^^xsd:string) AnnotationAssertion( "MESH:D015819"^^xsd:string) AnnotationAssertion( "Intravenous Drug Abuse"^^xsd:string) AnnotationAssertion( "Parenteral Drug Abuse"^^xsd:string) AnnotationAssertion( "intravenous drug use disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008753"^^xsd:string) AnnotationAssertion(rdfs:label "Intravenous Substance Abuse"^^xsd:string) SubClassOf( ) # Class: (Primary Lymphedema with Myelodysplasia) AnnotationAssertion( "MIM:614038"^^xsd:string) AnnotationAssertion( "Emberger syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008754"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Lymphedema with Myelodysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Adenine Nucleotide Translocator Deficiency) AnnotationAssertion( "MESH:C566309"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008755"^^xsd:string) AnnotationAssertion(rdfs:label "Adenine Nucleotide Translocator Deficiency"^^xsd:string) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9) AnnotationAssertion(Annotation( "MIM:620400"^^xsd:string) "An autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Caused by heterozygous mutation in the NOP10 gene on chromosome 15q14."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-06-06T12:43:34Z"^^xsd:string) AnnotationAssertion( "MIM:620400"^^xsd:string) AnnotationAssertion( "PFBMFT9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008756"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9"^^xsd:string) SubClassOf( ) # Class: (Metastatic Paraganglioma) AnnotationAssertion(Annotation( "NCI:C8559"^^xsd:string) "This tumor is a paraganglioma that metastasizes to regional or distant anatomic sites. Common sites of metastasis include the lymph nodes, lungs, bones, and liver."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-01-12T12:00:18Z"^^xsd:string) AnnotationAssertion( "EFO:1000360"^^xsd:string) AnnotationAssertion( "Malignant Paraganglioma"^^xsd:string) AnnotationAssertion( "Malignant Paraganglion Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Paraganglion Tumor"^^xsd:string) AnnotationAssertion( "Malignant Paraganglionic Neoplasm"^^xsd:string) AnnotationAssertion( "Malignant Paraganglionic Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008757"^^xsd:string) AnnotationAssertion(rdfs:label "Metastatic Paraganglioma"^^xsd:string) SubClassOf( ) # Class: (Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects) AnnotationAssertion( "MIM:183802"^^xsd:string) AnnotationAssertion( "MESH:C566662"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008758"^^xsd:string) AnnotationAssertion(rdfs:label "Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Female Athlete Triad Syndrome) AnnotationAssertion(Annotation( "MESH:D053716"^^xsd:string) "A condition of competitive female athletes in which there are interrelated problems of feeding and eating disorders; AMENORRHEA; and OSTEOPOROSIS."^^xsd:string) AnnotationAssertion( "EFO:1001790"^^xsd:string) AnnotationAssertion( "MESH:D053716"^^xsd:string) AnnotationAssertion( "Female Athlete Triad"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008759"^^xsd:string) AnnotationAssertion(rdfs:label "Female Athlete Triad Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Oliguria) AnnotationAssertion(Annotation( "MESH:D009846"^^xsd:string) "Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age."^^xsd:string) AnnotationAssertion( "MESH:D009846"^^xsd:string) AnnotationAssertion( "Oligurias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008760"^^xsd:string) AnnotationAssertion(rdfs:label "Oliguria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thai Symphalangism Syndrome) AnnotationAssertion( "MIM:608028"^^xsd:string) AnnotationAssertion( "MESH:C564303"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008761"^^xsd:string) AnnotationAssertion(rdfs:label "Thai Symphalangism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (HID Syndrome) AnnotationAssertion( "MIM:602540"^^xsd:string) AnnotationAssertion( "MESH:C566528"^^xsd:string) AnnotationAssertion( "Hystrix-Like Ichthyosis with Deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008762"^^xsd:string) AnnotationAssertion(rdfs:label "HID Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Femoral Fractures) AnnotationAssertion(Annotation( "MESH:D005264"^^xsd:string) "Fractures of the femur."^^xsd:string) AnnotationAssertion( "EFO:0008553"^^xsd:string) AnnotationAssertion( "MESH:D005264"^^xsd:string) AnnotationAssertion( "Femoral Fracture"^^xsd:string) AnnotationAssertion( "femur fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008763"^^xsd:string) AnnotationAssertion(rdfs:label "Femoral Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Immunodeficiency 111) AnnotationAssertion(Annotation( "MIM:620331"^^xsd:string) "An autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections. Caused by homozygous or compound heterozygous mutation in the DPP9 gene on chromosome 19p13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-28T09:24:48Z"^^xsd:string) AnnotationAssertion( "MIM:620331"^^xsd:string) AnnotationAssertion( "HATIS"^^xsd:string) AnnotationAssertion( "Hatipoglu immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "IMD111"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008764"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 111"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malarial Anemia) AnnotationAssertion( "Result of ineffective erythropoiesis following malarial infection."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008765"^^xsd:string) AnnotationAssertion(rdfs:label "Malarial Anemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 20, Autosomal Dominant) AnnotationAssertion( "Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear. Myopia 20 maps to chromosome 13q12.12. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:614166"^^xsd:string) AnnotationAssertion( "MYP20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008766"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 20, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Thrombocytopenia 8) AnnotationAssertion(Annotation( "MIM:620475"^^xsd:string) "An autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018). Caused by heterozygous mutation in the ACTB gene on chromosome 7p22."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T09:17:19Z"^^xsd:string) AnnotationAssertion( "MIM:620475"^^xsd:string) AnnotationAssertion( "ACTB-AST"^^xsd:string) AnnotationAssertion( "ACTB-associated syndromic thrombocytopenia"^^xsd:string) AnnotationAssertion( "THC8"^^xsd:string) AnnotationAssertion( "Thrombocytopenia 8, with dysmorphic features and developmental delay"^^xsd:string) AnnotationAssertion( "Thrombocytopenia, autosomal dominant, 8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008767"^^xsd:string) AnnotationAssertion(rdfs:label "Thrombocytopenia 8"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Sensorineural Deafness with Hypertrophic Cardiomyopathy) AnnotationAssertion( "MESH:C565236"^^xsd:string) AnnotationAssertion( "Cardiomyopathy and Deafness"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008768"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Deafness with Hypertrophic Cardiomyopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hydroxyprolinemia) AnnotationAssertion( "MIM:237000"^^xsd:string) AnnotationAssertion( "MESH:C562669"^^xsd:string) AnnotationAssertion( "4-Hydroxy-L-Proline Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008769"^^xsd:string) AnnotationAssertion(rdfs:label "Hydroxyprolinemia"^^xsd:string) SubClassOf( ) # Class: (Arteriosclerosis, Severe Juvenile) AnnotationAssertion( "MIM:208060"^^xsd:string) AnnotationAssertion( "MESH:C565941"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008770"^^xsd:string) AnnotationAssertion(rdfs:label "Arteriosclerosis, Severe Juvenile"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED) AnnotationAssertion(Annotation( "MIM:620711"^^xsd:string) "This disease is an autosomal recessive disorder characterized by the onset of variable and slowly progressive neurologic abnormalities in childhood or adolescence with survival to late adulthood. Features include spastic paraparesis, cerebellar ataxia, peripheral axonal neuropathy, ocular abnormalities, and leukoencephalopathy affecting the deep cerebral white matter on brain imaging. Laboratory studies show variably increased plasma and urinary levels of delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin due to decreased HMBS enzyme activity."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-25T12:18:01Z"^^xsd:string) AnnotationAssertion( "MIM:620711"^^xsd:string) AnnotationAssertion( "LENCEP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008772"^^xsd:string) AnnotationAssertion(rdfs:label "LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hodgkin Disease, Y-Linked Pseudoautosomal) AnnotationAssertion( "MIM:400021"^^xsd:string) AnnotationAssertion( "RDO:0013133"^^xsd:string) AnnotationAssertion( "MESH:C564034"^^xsd:string) AnnotationAssertion( "Hodgkin Lymphoma, Y-Linked Pseudoautosomal"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008773"^^xsd:string) AnnotationAssertion(rdfs:label "Hodgkin Disease, Y-Linked Pseudoautosomal"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pneumonic Pasteurellosis) AnnotationAssertion(Annotation( "MESH:D012766"^^xsd:string) "Bovine respiratory disease found in animals that have been shipped or exposed to CATTLE recently transported. The major agent responsible for the disease is MANNHEIMIA HAEMOLYTICA and less commonly, PASTEURELLA MULTOCIDA or HAEMOPHILUS SOMNUS. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the LUNG. They are considered opportunistic pathogens following STRESS, PHYSIOLOGICAL and/or a viral infection. The resulting bacterial fibrinous BRONCHOPNEUMONIA is often fatal."^^xsd:string) AnnotationAssertion( "EFO:0007449"^^xsd:string) AnnotationAssertion( "MESH:D012766"^^xsd:string) AnnotationAssertion( "Shipping Fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008774"^^xsd:string) AnnotationAssertion(rdfs:label "Pneumonic Pasteurellosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome) AnnotationAssertion( "MESH:C566861"^^xsd:string) AnnotationAssertion( "CAMAK Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008775"^^xsd:string) AnnotationAssertion(rdfs:label "Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Tonic Pupil) AnnotationAssertion(Annotation( "MESH:D015845"^^xsd:string) "A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, 'tonic' constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)"^^xsd:string) AnnotationAssertion( "MESH:D015845"^^xsd:string) AnnotationAssertion( "Adie Pupil"^^xsd:string) AnnotationAssertion( "Adie's Pupil"^^xsd:string) AnnotationAssertion( "Adies Pupil"^^xsd:string) AnnotationAssertion( "Myotonic Pupil"^^xsd:string) AnnotationAssertion( "Myotonic Pupils"^^xsd:string) AnnotationAssertion( "Neuropathic Tonic Pupil"^^xsd:string) AnnotationAssertion( "Neuropathic Tonic Pupils"^^xsd:string) AnnotationAssertion( "Pupil, Local Tonic"^^xsd:string) AnnotationAssertion( "Pupillotonia"^^xsd:string) AnnotationAssertion( "Pupillotonias"^^xsd:string) AnnotationAssertion( "Pupils, Adie's"^^xsd:string) AnnotationAssertion( "Pupils, Local Tonic"^^xsd:string) AnnotationAssertion( "Tonic Pupils"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008776"^^xsd:string) AnnotationAssertion(rdfs:label "Tonic Pupil"^^xsd:string) SubClassOf( ) # Class: (Zygomatic Fractures) AnnotationAssertion(Annotation( "MESH:D015051"^^xsd:string) "Fractures of the zygoma."^^xsd:string) AnnotationAssertion( "MESH:D015051"^^xsd:string) AnnotationAssertion( "RDO:0006842"^^xsd:string) AnnotationAssertion( "Zygomatic Fracture"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008777"^^xsd:string) AnnotationAssertion(rdfs:label "Zygomatic Fractures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Coronary Artery Calcification) AnnotationAssertion( "Calcification of coronary arteries involves early deposition of calcium in the formation of an atherosclerotic plaque."^^xsd:string) AnnotationAssertion( "EFO:0004643"^^xsd:string) AnnotationAssertion( "EFO:0004723"^^xsd:string) AnnotationAssertion( "RDO:9000026"^^xsd:string) AnnotationAssertion( "CAC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008778"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Artery Calcification"^^xsd:string) SubClassOf( ) # Class: (Achondroplasia and Swiss Type Agammaglobulinemia) AnnotationAssertion( "MESH:C536020"^^xsd:string) AnnotationAssertion( "Agammaglobulinaemia and achondroplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008779"^^xsd:string) AnnotationAssertion(rdfs:label "Achondroplasia and Swiss Type Agammaglobulinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (syndromic X-linked intellectual developmental disorder 37) AnnotationAssertion( "A developmental disorder showing phenotypic variability and variable severity, caused by hemizygous or heterozygous mutation in the ZFX gene on chromosome Xp22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-05-14T09:06:58Z"^^xsd:string) AnnotationAssertion( "MIM:301118"^^xsd:string) AnnotationAssertion( "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37"^^xsd:string) AnnotationAssertion( "Intellectual developmental disorder, X-linked syndromic 37"^^xsd:string) AnnotationAssertion( "MRXS37"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008780"^^xsd:string) AnnotationAssertion(rdfs:label "syndromic X-linked intellectual developmental disorder 37"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES) AnnotationAssertion(Annotation( "MIM:620001"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-03-26T10:42:30Z"^^xsd:string) AnnotationAssertion( "MIM:620001"^^xsd:string) AnnotationAssertion( "NEDSSBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008781"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (AIDS-Associated Nephropathy) AnnotationAssertion(Annotation( "MESH:D016263"^^xsd:string) "Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients."^^xsd:string) AnnotationAssertion( "EFO:0007313"^^xsd:string) AnnotationAssertion( "MESH:D016263"^^xsd:string) AnnotationAssertion( "AIDS Associated Nephropathies"^^xsd:string) AnnotationAssertion( "AIDS Nephropathies"^^xsd:string) AnnotationAssertion( "AIDS Nephropathy"^^xsd:string) AnnotationAssertion( "HIV Associated Nephropathies"^^xsd:string) AnnotationAssertion( "HIV Associated Nephropathy"^^xsd:string) AnnotationAssertion( "HIV Related Nephropathies"^^xsd:string) AnnotationAssertion( "HIV Related Nephropathy"^^xsd:string) AnnotationAssertion( "Human Immunodeficiency Virus Associated Nephropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008782"^^xsd:string) AnnotationAssertion(rdfs:label "AIDS-Associated Nephropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Yusho Disease) AnnotationAssertion( "MESH:C536720"^^xsd:string) AnnotationAssertion( "RDO:0002383"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008785"^^xsd:string) AnnotationAssertion(rdfs:label "Yusho Disease"^^xsd:string) SubClassOf( ) # Class: (congenital myasthenic syndrome 4) AnnotationAssertion( "This disease is a congenital myasthenic syndrome characterized by autosomal inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the acetylcholine receptor channel that has_material_basis_in homozygous, heterozygous, compound heterozygous, or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-01-09T13:14:18Z"^^xsd:string) AnnotationAssertion( "MESH:C536090"^^xsd:string) AnnotationAssertion( "MESH:C565289"^^xsd:string) AnnotationAssertion( "MIM:605809"^^xsd:string) AnnotationAssertion( "MIM:608931"^^xsd:string) AnnotationAssertion( "MIM:616324"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008786"^^xsd:string) AnnotationAssertion(rdfs:label "congenital myasthenic syndrome 4"^^xsd:string) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-10T14:20:25Z"^^xsd:string) AnnotationAssertion( "EFO:0010653"^^xsd:string) AnnotationAssertion( "MIM:618672"^^xsd:string) AnnotationAssertion( "IDDSADF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008787"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy) AnnotationAssertion( "MIM:183050"^^xsd:string) AnnotationAssertion( "MESH:C566669"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008788"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Type 2 Diabetes Mellitus 3) AnnotationAssertion( "MIM:603694"^^xsd:string) AnnotationAssertion( "MESH:C566342"^^xsd:string) AnnotationAssertion( "NIDDM3"^^xsd:string) AnnotationAssertion( "T2D3"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008789"^^xsd:string) AnnotationAssertion(rdfs:label "Type 2 Diabetes Mellitus 3"^^xsd:string) SubClassOf( ) # Class: (Nablus Mask-Like Facial Syndrome) AnnotationAssertion( "MIM:608156"^^xsd:string) AnnotationAssertion( "MESH:C536110"^^xsd:string) AnnotationAssertion( "NMLFS"^^xsd:string) AnnotationAssertion( "chromosome 8q22.1 deletion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008790"^^xsd:string) AnnotationAssertion(rdfs:label "Nablus Mask-Like Facial Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Cutaneous Papillomatosis) AnnotationAssertion( "MIM:167900"^^xsd:string) AnnotationAssertion( "MESH:C566832"^^xsd:string) AnnotationAssertion( "CARP"^^xsd:string) AnnotationAssertion( "PAPILLOMATOSIS, CONFLUENT AND RETICULATED"^^xsd:string) AnnotationAssertion( "PAPILLOMATOSIS, RETICULATED AND CONFLUENT, OF GOUGEROT AND CARTEAUD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008791"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Cutaneous Papillomatosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Microphthalmia/Coloboma 11) AnnotationAssertion(Annotation( "MIM:620731"^^xsd:string) "A disease characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Caused by heterozygous mutation in the FZD5 gene on chromosome 2q33."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-03-18T11:25:03Z"^^xsd:string) AnnotationAssertion( "MIM:620731"^^xsd:string) AnnotationAssertion( "MCOPCB11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008792"^^xsd:string) AnnotationAssertion(rdfs:label "Microphthalmia/Coloboma 11"^^xsd:string) SubClassOf( ) # Class: (Equine Strongyle Infections) AnnotationAssertion(Annotation( "MESH:D013319"^^xsd:string) "Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum."^^xsd:string) AnnotationAssertion( "RDO:0006628"^^xsd:string) AnnotationAssertion( "MESH:D013319"^^xsd:string) AnnotationAssertion( "Equine Strongyle Infection"^^xsd:string) AnnotationAssertion( "Equine Strongyloses"^^xsd:string) AnnotationAssertion( "Equine Strongylosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008793"^^xsd:string) AnnotationAssertion(rdfs:label "Equine Strongyle Infections"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY) AnnotationAssertion( "MIM:614262"^^xsd:string) AnnotationAssertion( "APUG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008794"^^xsd:string) AnnotationAssertion(rdfs:label "ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Microcephaly Seizures Genital Hypoplasia) AnnotationAssertion( "MESH:C537540"^^xsd:string) AnnotationAssertion( "Microcephaly micropenis convulsions"^^xsd:string) AnnotationAssertion( "Microcephaly micropenis seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008795"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly Seizures Genital Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Wiedemann Grosse Dibbern Syndrome) AnnotationAssertion( "MESH:C536704"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008796"^^xsd:string) AnnotationAssertion(rdfs:label "Wiedemann Grosse Dibbern Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Asymmetry) AnnotationAssertion(Annotation( "MESH:D005146"^^xsd:string) "Congenital or acquired asymmetry of the face."^^xsd:string) AnnotationAssertion( "MESH:D005146"^^xsd:string) AnnotationAssertion( "Facial Asymmetries"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008797"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Asymmetry"^^xsd:string) SubClassOf( ) # Class: (Chemke Oliver Mallek Syndrome) AnnotationAssertion( "MESH:C535922"^^xsd:string) AnnotationAssertion( "multiple ophthalmic anomalies and digital hypoplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008798"^^xsd:string) AnnotationAssertion(rdfs:label "Chemke Oliver Mallek Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Anaplasmosis) AnnotationAssertion(Annotation( "MESH:D000712"^^xsd:string) "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA."^^xsd:string) AnnotationAssertion( "MESH:D000712"^^xsd:string) AnnotationAssertion( "Anaplasmoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008799"^^xsd:string) AnnotationAssertion(rdfs:label "Anaplasmosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Selective Tooth Agenesis 5) AnnotationAssertion( "MIM:610926"^^xsd:string) AnnotationAssertion( "RDO:0014310"^^xsd:string) AnnotationAssertion( "MESH:C565757"^^xsd:string) AnnotationAssertion( "He-Zhao Deficiency"^^xsd:string) AnnotationAssertion( "Hypodontia-Oligodontia 5"^^xsd:string) AnnotationAssertion( "STHAG5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008801"^^xsd:string) AnnotationAssertion(rdfs:label "Selective Tooth Agenesis 5"^^xsd:string) SubClassOf( ) # Class: (Periodic Fever, Menstrual Cycle-Dependent) AnnotationAssertion( "MIM:614674"^^xsd:string) AnnotationAssertion( "MONDO:0044660"^^xsd:string) AnnotationAssertion( "ORDO:498251"^^xsd:string) AnnotationAssertion( "Luteal-phase-dependent febrile episode"^^xsd:string) AnnotationAssertion( "Luteal-phase-dependent periodic fever"^^xsd:string) AnnotationAssertion( "Menstrual cycle-dependent febrile episode"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008802"^^xsd:string) AnnotationAssertion(rdfs:label "Periodic Fever, Menstrual Cycle-Dependent"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Nicolau Syndrome) AnnotationAssertion(Annotation( "MESH:D065148"^^xsd:string) "An uncommon complication of INTRAMUSCULAR INJECTION leading to variable degrees of necrosis of skin and underlying tissue."^^xsd:string) AnnotationAssertion( "MESH:D065148"^^xsd:string) AnnotationAssertion( "Embolia Cutis Medicamentosa"^^xsd:string) AnnotationAssertion( "Livedo like Dermatitis"^^xsd:string) AnnotationAssertion( "Livedo-like Dermatitides"^^xsd:string) AnnotationAssertion( "Nicolau Livedoid Dermatitis"^^xsd:string) AnnotationAssertion( "Nicolau Livedoid Syndrome"^^xsd:string) AnnotationAssertion( "Nicolau's Livedoid Syndrome"^^xsd:string) AnnotationAssertion( "Nicolau's Syndrome"^^xsd:string) AnnotationAssertion( "Nicolaus Livedoid Syndrome"^^xsd:string) AnnotationAssertion( "Nicolaus Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008803"^^xsd:string) AnnotationAssertion(rdfs:label "Nicolau Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Aphakia) AnnotationAssertion(Annotation( "MESH:D001035"^^xsd:string) "Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION."^^xsd:string) AnnotationAssertion( "MESH:D001035"^^xsd:string) AnnotationAssertion( "RDO:0003689"^^xsd:string) AnnotationAssertion( "Aphakias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008804"^^xsd:string) AnnotationAssertion(rdfs:label "Aphakia"^^xsd:string) SubClassOf( ) # Class: (Overbite) AnnotationAssertion(Annotation( "MESH:D057887"^^xsd:string) "A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet."^^xsd:string) AnnotationAssertion( "MESH:D057887"^^xsd:string) AnnotationAssertion( "Deep Bite"^^xsd:string) AnnotationAssertion( "Deep Bites"^^xsd:string) AnnotationAssertion( "Dental Overjet"^^xsd:string) AnnotationAssertion( "Dental Overjets"^^xsd:string) AnnotationAssertion( "Incisor Protrusion"^^xsd:string) AnnotationAssertion( "Incisor Protrusions"^^xsd:string) AnnotationAssertion( "Overbites"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008805"^^xsd:string) AnnotationAssertion(rdfs:label "Overbite"^^xsd:string) SubClassOf( ) # Class: (Oral Hemorrhage) AnnotationAssertion(Annotation( "MESH:D006472"^^xsd:string) "Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums."^^xsd:string) AnnotationAssertion( "MESH:D006472"^^xsd:string) AnnotationAssertion( "oral hemorrhages"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008806"^^xsd:string) AnnotationAssertion(rdfs:label "Oral Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE) AnnotationAssertion(Annotation( "MIM:620851"^^xsd:string) "This disease is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, dysmorphic facial features, and brain anomalies, including ventriculomegaly and progressive white matter loss."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-12T10:48:24Z"^^xsd:string) AnnotationAssertion( "MIM:620851"^^xsd:string) AnnotationAssertion( "NEDHAFA"^^xsd:string) AnnotationAssertion( "RNU4-2-ASSOCIATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008807"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pregnancy Complications, Infectious) AnnotationAssertion(Annotation( "MESH:D011251"^^xsd:string) "The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION."^^xsd:string) AnnotationAssertion( "MESH:D011251"^^xsd:string) AnnotationAssertion( "RDO:0001969"^^xsd:string) AnnotationAssertion( "Infectious Pregnancy Complication"^^xsd:string) AnnotationAssertion( "Pregnancies, Infectious Complications"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008808"^^xsd:string) AnnotationAssertion(rdfs:label "Pregnancy Complications, Infectious"^^xsd:string) SubClassOf( ) # Class: (Body Temperature Changes) AnnotationAssertion(Annotation( "MESH:D001832"^^xsd:string) "Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally."^^xsd:string) AnnotationAssertion( "MESH:D001832"^^xsd:string) AnnotationAssertion( "Body Temperature Change"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008809"^^xsd:string) AnnotationAssertion(rdfs:label "Body Temperature Changes"^^xsd:string) SubClassOf( ) # Class: (Spontaneous Rupture) AnnotationAssertion(Annotation( "MESH:D012422"^^xsd:string) "Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force."^^xsd:string) AnnotationAssertion( "MESH:D012422"^^xsd:string) AnnotationAssertion( "Spontaneous Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008810"^^xsd:string) AnnotationAssertion(rdfs:label "Spontaneous Rupture"^^xsd:string) SubClassOf( ) # Class: (Tachypnea) AnnotationAssertion(Annotation( "MESH:D059246"^^xsd:string) "Increased RESPIRATORY RATE."^^xsd:string) AnnotationAssertion( "EFO:0009840"^^xsd:string) AnnotationAssertion( "MESH:D059246"^^xsd:string) AnnotationAssertion( "RDO:0010000"^^xsd:string) AnnotationAssertion( "Tachypneas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008811"^^xsd:string) AnnotationAssertion(rdfs:label "Tachypnea"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency) AnnotationAssertion( "MESH:C567493"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008812"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency"^^xsd:string) SubClassOf( ) # Class: (Thecoma) AnnotationAssertion(Annotation( "MESH:D013798"^^xsd:string) "A gonadal stromal neoplasm composed only of THECA CELLS, occurring mostly in the postmenopausal OVARY. It is filled with lipid-containing spindle cells and produces ESTROGENS that can lead to ENDOMETRIAL HYPERPLASIA; UTERINE HEMORRHAGE; or other malignancies in postmenopausal women and sexual precocity in girls. When tumors containing theca cells also contain FIBROBLASTS, they are identified as thecoma-fibroma tumors with less active hormone production."^^xsd:string) AnnotationAssertion( "MESH:D013798"^^xsd:string) AnnotationAssertion( "Theca Cell Tumor"^^xsd:string) AnnotationAssertion( "Theca Cell Tumors"^^xsd:string) AnnotationAssertion( "Thecomas"^^xsd:string) AnnotationAssertion( "Thecoma, somatic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008813"^^xsd:string) AnnotationAssertion(rdfs:label "Thecoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Mirror Movements 3) AnnotationAssertion( "RDO:9001279"^^xsd:string) AnnotationAssertion( "MIM:616059"^^xsd:string) AnnotationAssertion( "MRMV3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008815"^^xsd:string) AnnotationAssertion(rdfs:label "Mirror Movements 3"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus) AnnotationAssertion( "MIM:600089"^^xsd:string) AnnotationAssertion( "RDO:0004044"^^xsd:string) AnnotationAssertion( "MESH:C538111"^^xsd:string) AnnotationAssertion( "Congenital absence of insulin-producing beta cells with diabetes mellitus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008816"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus"^^xsd:string) SubClassOf( ) # Class: (Transmissible Gastroenteritis, of Swine) AnnotationAssertion(Annotation( "MESH:D005761"^^xsd:string) "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS."^^xsd:string) AnnotationAssertion( "MESH:D005761"^^xsd:string) AnnotationAssertion( "Porcine Transmissible Gastroenteritides"^^xsd:string) AnnotationAssertion( "Porcine Transmissible Gastroenteritis"^^xsd:string) AnnotationAssertion( "Swine Transmissible Gastroenteritides"^^xsd:string) AnnotationAssertion( "Swine Transmissible Gastroenteritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008817"^^xsd:string) AnnotationAssertion(rdfs:label "Transmissible Gastroenteritis, of Swine"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Retinal Dystrophy, Early Onset Severe) AnnotationAssertion( "MESH:C565741"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008818"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy, Early Onset Severe"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome) AnnotationAssertion(Annotation( "MIM:620651"^^xsd:string) "A disease characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay. Caused by homozygous mutation in the MANF gene on chromosome 3p21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-12-12T17:57:37Z"^^xsd:string) AnnotationAssertion( "MIM:620651"^^xsd:string) AnnotationAssertion( "DDDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008819"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Visceral Pain) AnnotationAssertion(Annotation( "MESH:D059265"^^xsd:string) "Pain originating from internal organs (VISCERA) associated with autonomic phenomena (PALLOR; SWEATING; NAUSEA; and VOMITING). It often becomes a REFERRED PAIN."^^xsd:string) AnnotationAssertion( "MESH:D059265"^^xsd:string) AnnotationAssertion( "Visceral Pains"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008820"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Pain"^^xsd:string) SubClassOf( ) # Class: (Otitis Media with Effusion) AnnotationAssertion(Annotation( "MESH:D010034"^^xsd:string) "Inflammation of the middle ear with a clear pale yellow-colored transudate."^^xsd:string) AnnotationAssertion( "EFO:0007415"^^xsd:string) AnnotationAssertion( "MESH:D010034"^^xsd:string) AnnotationAssertion( "RDO:0006257"^^xsd:string) AnnotationAssertion( "Middle Ear Effusion"^^xsd:string) AnnotationAssertion( "Middle Ear Effusions"^^xsd:string) AnnotationAssertion( "Secretory Otitis Media"^^xsd:string) AnnotationAssertion( "Serous Otitis Media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008821"^^xsd:string) AnnotationAssertion(rdfs:label "Otitis Media with Effusion"^^xsd:string) SubClassOf( ) # Class: (Chromosome 16, Trisomy 16q) AnnotationAssertion( "MESH:C538042"^^xsd:string) AnnotationAssertion( "Duplication 16q"^^xsd:string) AnnotationAssertion( "Trisomy 16q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008822"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 16, Trisomy 16q"^^xsd:string) SubClassOf( ) # Class: (Avian Malaria) AnnotationAssertion(Annotation( "MESH:D008289"^^xsd:string) "Any of a group of infections of fowl caused by protozoa of the genera PLASMODIUM, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria."^^xsd:string) AnnotationAssertion( "MESH:D008289"^^xsd:string) AnnotationAssertion( "Avian Malarias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008823"^^xsd:string) AnnotationAssertion(rdfs:label "Avian Malaria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Sarcopenia) AnnotationAssertion(Annotation( "MESH:D055948"^^xsd:string) "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles."^^xsd:string) AnnotationAssertion( "EFO:1000653"^^xsd:string) AnnotationAssertion( "MESH:D055948"^^xsd:string) AnnotationAssertion( "RDO:0007724"^^xsd:string) AnnotationAssertion( "Sarcopenias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008824"^^xsd:string) AnnotationAssertion(rdfs:label "Sarcopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Brunoni Syndrome) AnnotationAssertion( "MESH:C537408"^^xsd:string) AnnotationAssertion( "Mesomelia, radial hypoplasia bifid thumb unusual facies"^^xsd:string) AnnotationAssertion( "Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008825"^^xsd:string) AnnotationAssertion(rdfs:label "Brunoni Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (YOU-HOOVER-FONG SYNDROME) AnnotationAssertion(Annotation( "MIM:616954"^^xsd:string) "This is a disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-04-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009061"^^xsd:string) AnnotationAssertion( "MIM:616954"^^xsd:string) AnnotationAssertion( "TELO2-related intellectual disability-neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "YHFS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008826"^^xsd:string) AnnotationAssertion(rdfs:label "YOU-HOOVER-FONG SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glossalgia) AnnotationAssertion(Annotation( "MESH:D005926"^^xsd:string) "Painful sensations in the tongue, including a sensation of burning."^^xsd:string) AnnotationAssertion( "MESH:D005926"^^xsd:string) AnnotationAssertion( "Glossalgias"^^xsd:string) AnnotationAssertion( "Glossodynia"^^xsd:string) AnnotationAssertion( "Glossodynias"^^xsd:string) AnnotationAssertion( "Glossopyroses"^^xsd:string) AnnotationAssertion( "Glossopyrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008827"^^xsd:string) AnnotationAssertion(rdfs:label "Glossalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Li-Fraumeni-Like Syndrome) AnnotationAssertion( "MESH:C567189"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008828"^^xsd:string) AnnotationAssertion(rdfs:label "Li-Fraumeni-Like Syndrome"^^xsd:string) SubClassOf( ) # Class: (Nijmegen Breakage Syndrome-Like Disorder) AnnotationAssertion( "MIM:613078"^^xsd:string) AnnotationAssertion( "MESH:C567767"^^xsd:string) AnnotationAssertion( "NCI:C153178"^^xsd:string) AnnotationAssertion( "NBS-LIKE DISORDER"^^xsd:string) AnnotationAssertion( "NBSLD"^^xsd:string) AnnotationAssertion( "RAD50 deficiency"^^xsd:string) AnnotationAssertion( "microcephaly and spontaneous chromosome instability without immunodeficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008829"^^xsd:string) AnnotationAssertion(rdfs:label "Nijmegen Breakage Syndrome-Like Disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Vasovagal Syncope) AnnotationAssertion(Annotation( "MESH:D019462"^^xsd:string) "Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation."^^xsd:string) AnnotationAssertion( "RDO:0002560"^^xsd:string) AnnotationAssertion( "MESH:D019462"^^xsd:string) AnnotationAssertion( "Cerebral Syncopes"^^xsd:string) AnnotationAssertion( "Malignant Neurocardiogenic Syncope"^^xsd:string) AnnotationAssertion( "Malignant Neurocardiogenic Syncopes"^^xsd:string) AnnotationAssertion( "Neurally Mediated Faint"^^xsd:string) AnnotationAssertion( "Neurally Mediated Faints"^^xsd:string) AnnotationAssertion( "Neurocardiogenic Syncope"^^xsd:string) AnnotationAssertion( "Neurocardiogenic Syncopes"^^xsd:string) AnnotationAssertion( "Neurogenic Syncope"^^xsd:string) AnnotationAssertion( "Neurogenic Syncopes"^^xsd:string) AnnotationAssertion( "Supine Syncope"^^xsd:string) AnnotationAssertion( "Supine Syncopes"^^xsd:string) AnnotationAssertion( "Syncope, Vasovagal, Neurally-Mediated"^^xsd:string) AnnotationAssertion( "Vasodepressor Syncope"^^xsd:string) AnnotationAssertion( "Vasodepressor Syncopes"^^xsd:string) AnnotationAssertion( "cerebral syncope"^^xsd:string) AnnotationAssertion( "vasovagal syncopes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008830"^^xsd:string) AnnotationAssertion(rdfs:label "Vasovagal Syncope"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Abuse Dwarfism Syndrome) AnnotationAssertion( "MESH:C535569"^^xsd:string) AnnotationAssertion( "RDO:0000765"^^xsd:string) AnnotationAssertion( "Child abuse dwarfism"^^xsd:string) AnnotationAssertion( "Psychosocial dwarfism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008831"^^xsd:string) AnnotationAssertion(rdfs:label "Abuse Dwarfism Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (FOR Heavy Chain Disease Protein, Human) AnnotationAssertion( "MESH:C483996"^^xsd:string) AnnotationAssertion( "gamma 1 heavy chain disease protein FOR, human"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008832"^^xsd:string) AnnotationAssertion(rdfs:label "FOR Heavy Chain Disease Protein, Human"^^xsd:string) SubClassOf( ) # Class: (Pestivirus Infections) AnnotationAssertion(Annotation( "MESH:D018182"^^xsd:string) "Infections with viruses of the genus PESTIVIRUS, family FLAVIVIRIDAE."^^xsd:string) AnnotationAssertion( "EFO:0007432"^^xsd:string) AnnotationAssertion( "MESH:D018182"^^xsd:string) AnnotationAssertion( "Pestivirus Infection"^^xsd:string) AnnotationAssertion( "Pestivirus infectious disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008833"^^xsd:string) AnnotationAssertion(rdfs:label "Pestivirus Infections"^^xsd:string) SubClassOf( ) # Class: (Maple Syrup Urine Disease, Type 1A) AnnotationAssertion( "MIM:248600"^^xsd:string) AnnotationAssertion( "MESH:C535710"^^xsd:string) AnnotationAssertion( "MSUD1A"^^xsd:string) AnnotationAssertion( "Maple Syrup Urine Disease, Intermediate, Type IA"^^xsd:string) AnnotationAssertion( "Maple Syrup Urine Disease, Type IA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008834"^^xsd:string) AnnotationAssertion(rdfs:label "Maple Syrup Urine Disease, Type 1A"^^xsd:string) SubClassOf( ) # Class: (Splenic Rupture) AnnotationAssertion(Annotation( "MESH:D013161"^^xsd:string) "Rupture of the SPLEEN due to trauma or disease."^^xsd:string) AnnotationAssertion( "MESH:D013161"^^xsd:string) AnnotationAssertion( "Splenic Ruptures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008835"^^xsd:string) AnnotationAssertion(rdfs:label "Splenic Rupture"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Catheter-Related Infections) AnnotationAssertion(Annotation( "MESH:D055499"^^xsd:string) "Infections resulting from the use of catheters. Proper aseptic technique, site of catheter placement, material composition, and virulence of the organism are all factors that can influence possible infection."^^xsd:string) AnnotationAssertion( "MESH:D055499"^^xsd:string) AnnotationAssertion( "Catheter Associated Infections"^^xsd:string) AnnotationAssertion( "Catheter-Associated Infection"^^xsd:string) AnnotationAssertion( "Catheter-Related Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008836"^^xsd:string) AnnotationAssertion(rdfs:label "Catheter-Related Infections"^^xsd:string) SubClassOf( ) # Class: (Severe Congenital Neutropenia 11, Autosomal Dominant) AnnotationAssertion(Annotation( "MIM:620674"^^xsd:string) "A disease characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:35:34Z"^^xsd:string) AnnotationAssertion( "MIM:620674"^^xsd:string) AnnotationAssertion( "SCN11"^^xsd:string) AnnotationAssertion( "severe congenital neutropenia 11"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008837"^^xsd:string) AnnotationAssertion(rdfs:label "Severe Congenital Neutropenia 11, Autosomal Dominant"^^xsd:string) SubClassOf( ) # Class: (Pick Complex) AnnotationAssertion( "MESH:C563966"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008838"^^xsd:string) AnnotationAssertion(rdfs:label "Pick Complex"^^xsd:string) SubClassOf( ) # Class: (Factor V and Factor VIII, Combined Deficiency of, 2) AnnotationAssertion( "MIM:613625"^^xsd:string) AnnotationAssertion( "F5F8D2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008839"^^xsd:string) AnnotationAssertion(rdfs:label "Factor V and Factor VIII, Combined Deficiency of, 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DNA Repair-Deficiency Disorders) AnnotationAssertion(Annotation( "MESH:D049914"^^xsd:string) "Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE."^^xsd:string) AnnotationAssertion( "EFO:0008499"^^xsd:string) AnnotationAssertion( "MESH:D049914"^^xsd:string) AnnotationAssertion( "Chromosome Instability Syndrome"^^xsd:string) AnnotationAssertion( "Chromosome Instability Syndromes"^^xsd:string) AnnotationAssertion( "DNA Repair Deficiency"^^xsd:string) AnnotationAssertion( "DNA Repair-Deficiencies"^^xsd:string) AnnotationAssertion( "DNA Repair-Deficiency Disorder"^^xsd:string) AnnotationAssertion( "Deficient DNA Repair"^^xsd:string) AnnotationAssertion( "Deficient DNA Repairs"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008840"^^xsd:string) AnnotationAssertion(rdfs:label "DNA Repair-Deficiency Disorders"^^xsd:string) SubClassOf( ) # Class: (Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia) AnnotationAssertion( "MIM:603641"^^xsd:string) AnnotationAssertion( "MESH:C566352"^^xsd:string) AnnotationAssertion( "MONDO:0011352"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008841"^^xsd:string) AnnotationAssertion(rdfs:label "Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Flail Chest) AnnotationAssertion(Annotation( "MESH:D005409"^^xsd:string) "A complication of multiple RIB FRACTURES; RIB and STERNUM fractures, or thoracic surgery. A portion of the THORACIC WALL becomes isolated from the RIB CAGE and exhibits paradoxical respiration."^^xsd:string) AnnotationAssertion( "MESH:D005409"^^xsd:string) AnnotationAssertion( "Stove in Chest"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008843"^^xsd:string) AnnotationAssertion(rdfs:label "Flail Chest"^^xsd:string) SubClassOf( ) # Class: (Serous Cystadenoma) AnnotationAssertion(Annotation( "MESH:D018293"^^xsd:string) "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972)"^^xsd:string) AnnotationAssertion( "EFO:0002504"^^xsd:string) AnnotationAssertion( "MESH:D018293"^^xsd:string) AnnotationAssertion( "Serous Cystadenomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008844"^^xsd:string) AnnotationAssertion(rdfs:label "Serous Cystadenoma"^^xsd:string) SubClassOf( ) # Class: (Oocyte Maturation Defect 2) AnnotationAssertion( "MIM:616780"^^xsd:string) AnnotationAssertion( "OOMD2"^^xsd:string) AnnotationAssertion( "OZEMA2"^^xsd:string) AnnotationAssertion( "Oocyte/zygote/embryo maturation arrest 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008845"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte Maturation Defect 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Sensorineural Deafness and Migraine) AnnotationAssertion( "A syndrome combining recurrent unilateral pulsatile headaches and hearing loss resulting from damage to the COCHLEA."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-07-12T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008847"^^xsd:string) AnnotationAssertion(rdfs:label "Sensorineural Deafness and Migraine"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Slow Coronary Flow) AnnotationAssertion( "A condition described by the presence of an unexplained delay in the progression of intracoronary contrast during angiography."^^xsd:string) AnnotationAssertion( "NCI:C165530"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008848"^^xsd:string) AnnotationAssertion(rdfs:label "Slow Coronary Flow"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Megarbane Jalkh Syndrome) AnnotationAssertion( "MIM:612785"^^xsd:string) AnnotationAssertion( "MESH:C548071"^^xsd:string) AnnotationAssertion( "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008851"^^xsd:string) AnnotationAssertion(rdfs:label "Megarbane Jalkh Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Respiratory Underresponsiveness to Hypoxia and Hypercapnia) AnnotationAssertion( "MIM:267480"^^xsd:string) AnnotationAssertion( "MESH:C564848"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008852"^^xsd:string) AnnotationAssertion(rdfs:label "Respiratory Underresponsiveness to Hypoxia and Hypercapnia"^^xsd:string) SubClassOf( ) # Class: (Specific Language Impairment 4) AnnotationAssertion( "MIM:612514"^^xsd:string) AnnotationAssertion( "MESH:C567288"^^xsd:string) AnnotationAssertion( "SLI4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008853"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Language Impairment 4"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Autosomal Recessive Nonsyndromic Deafness 125) AnnotationAssertion(Annotation( "MIM:620877"^^xsd:string) "A disease characterized by congenital nonsyndromic sensorineural hearing loss. Caused by homozygous mutation in the GAS2 gene on chromosome 11p14."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T16:57:39Z"^^xsd:string) AnnotationAssertion( "MIM:620877"^^xsd:string) AnnotationAssertion( "DFNB125"^^xsd:string) AnnotationAssertion( "Deafness, autosomal recessive 125"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008854"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Nonsyndromic Deafness 125"^^xsd:string) SubClassOf( ) # Class: (Brachyolmia Type 2) AnnotationAssertion( "MIM:613678"^^xsd:string) AnnotationAssertion( "RDO:0012563"^^xsd:string) AnnotationAssertion( "MESH:C563218"^^xsd:string) AnnotationAssertion( "BCYM2"^^xsd:string) AnnotationAssertion( "brachyolmia, Maroteaux type"^^xsd:string) AnnotationAssertion( "spondyloepiphyseal dysplasia, Maroteaux type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008855"^^xsd:string) AnnotationAssertion(rdfs:label "Brachyolmia Type 2"^^xsd:string) SubClassOf( ) # Class: (HIV-Associated Lipodystrophy Syndrome) AnnotationAssertion(Annotation( "MESH:D039682"^^xsd:string) "Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors."^^xsd:string) AnnotationAssertion( "EFO:1001348"^^xsd:string) AnnotationAssertion( "MESH:D039682"^^xsd:string) AnnotationAssertion( "HALS"^^xsd:string) AnnotationAssertion( "HIV Associated Lipodystrophy"^^xsd:string) AnnotationAssertion( "HIV Lipodystrophy Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008856"^^xsd:string) AnnotationAssertion(rdfs:label "HIV-Associated Lipodystrophy Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Postaxial Polydactyly, Type A8) AnnotationAssertion( "A disease characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails. PAPA8 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T16:59:48Z"^^xsd:string) AnnotationAssertion( "MIM:618123"^^xsd:string) AnnotationAssertion( "PAPA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008857"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A8"^^xsd:string) SubClassOf( ) # Class: (Arthrogryposis, Impaired Intellectual Development, and Seizures) AnnotationAssertion( "MIM:615553"^^xsd:string) AnnotationAssertion( "AMRS"^^xsd:string) AnnotationAssertion( "AUTISM SPECTRUM DISORDER - EPILEPSY - ARTHROGRYPOSIS SYNDROME"^^xsd:string) AnnotationAssertion( "arthrogryposis, mental retardation, and seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008858"^^xsd:string) AnnotationAssertion(rdfs:label "Arthrogryposis, Impaired Intellectual Development, and Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hip Injuries) AnnotationAssertion(Annotation( "MESH:D025981"^^xsd:string) "General or unspecified injuries involving the hip."^^xsd:string) AnnotationAssertion( "MESH:D025981"^^xsd:string) AnnotationAssertion( "RDO:0005806"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008860"^^xsd:string) AnnotationAssertion(rdfs:label "Hip Injuries"^^xsd:string) SubClassOf( ) # Class: (Wound Infection) AnnotationAssertion(Annotation( "MESH:D014946"^^xsd:string) "Invasion of a wound by pathogenic microorganisms."^^xsd:string) AnnotationAssertion( "MESH:D014946"^^xsd:string) AnnotationAssertion( "RDO:0006652"^^xsd:string) AnnotationAssertion( "Wound Infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008861"^^xsd:string) AnnotationAssertion(rdfs:label "Wound Infection"^^xsd:string) SubClassOf( ) # Class: (Short Stature, Developmental Delay, and Congenital Heart Defects) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:617044"^^xsd:string) AnnotationAssertion( "SDDHD"^^xsd:string) AnnotationAssertion( "TKT deficiency"^^xsd:string) AnnotationAssertion( "transketolase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008862"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Developmental Delay, and Congenital Heart Defects"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Malignant Granular Cell Tumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-12-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008863"^^xsd:string) AnnotationAssertion(rdfs:label "Malignant Granular Cell Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-03-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:616531"^^xsd:string) AnnotationAssertion( "NEDSPLB"^^xsd:string) AnnotationAssertion( "PMGYCHA"^^xsd:string) AnnotationAssertion( "neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities"^^xsd:string) AnnotationAssertion( "perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008864"^^xsd:string) AnnotationAssertion(rdfs:label "POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Entamoebiasis) AnnotationAssertion(Annotation( "MESH:D004749"^^xsd:string) "Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC."^^xsd:string) AnnotationAssertion( "MESH:C531613"^^xsd:string) AnnotationAssertion( "MESH:D004749"^^xsd:string) AnnotationAssertion( "amoebiasis due to Entamoeba histolytica"^^xsd:string) AnnotationAssertion( "entamoebiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008865"^^xsd:string) AnnotationAssertion(rdfs:label "Entamoebiasis"^^xsd:string) SubClassOf( ) # Class: (Partially Edentulous Jaw) AnnotationAssertion(Annotation( "MESH:D007576"^^xsd:string) "Absence of teeth from a portion of the mandible and/or maxilla."^^xsd:string) AnnotationAssertion( "MESH:D007576"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008866"^^xsd:string) AnnotationAssertion(rdfs:label "Partially Edentulous Jaw"^^xsd:string) SubClassOf( ) # Class: (C3 Glomerulopathy 3) AnnotationAssertion( "CFH-RELATED DENSE DEPOSIT DISEASE / MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II"^^xsd:string) AnnotationAssertion( "MIM:614809"^^xsd:string) AnnotationAssertion( "C3 GLOMERULONEPHRITIS"^^xsd:string) AnnotationAssertion( "C3G3"^^xsd:string) AnnotationAssertion( "CFHR5 deficiency"^^xsd:string) AnnotationAssertion( "CFHR5 nephropathy"^^xsd:string) AnnotationAssertion( "nephropathy due to CFHR5 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008867"^^xsd:string) AnnotationAssertion(rdfs:label "C3 Glomerulopathy 3"^^xsd:string) SubClassOf( ) # Class: (Chromosome 12 Ring) AnnotationAssertion( "MESH:C538298"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008868"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 12 Ring"^^xsd:string) SubClassOf( ) # Class: (Lattice Corneal Dystrophy Type 1) AnnotationAssertion( "MIM:122200"^^xsd:string) AnnotationAssertion( "MESH:C537881"^^xsd:string) AnnotationAssertion( "Biber-Haab-Dimmer Dystrophy"^^xsd:string) AnnotationAssertion( "CDL1"^^xsd:string) AnnotationAssertion( "LCD1"^^xsd:string) AnnotationAssertion( "Lattice Corneal Dystrophy Type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008869"^^xsd:string) AnnotationAssertion(rdfs:label "Lattice Corneal Dystrophy Type 1"^^xsd:string) SubClassOf( ) # Class: (Chromosome 16q12 Duplication Syndrome) AnnotationAssertion( "Characterized by early-onset progressive cone dystrophy, with early blue cone involvement."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-12-07T17:11:46Z"^^xsd:string) AnnotationAssertion( "MIM:619649"^^xsd:string) AnnotationAssertion( "cone dystrophy with early-onset tritanopic color vision defect"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008870"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 16q12 Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hand Deformities) AnnotationAssertion(Annotation( "MESH:D006226"^^xsd:string) "Alterations or deviations from normal shape or size which result in a disfigurement of the hand."^^xsd:string) AnnotationAssertion( "MESH:D006226"^^xsd:string) AnnotationAssertion( "RDO:0002624"^^xsd:string) AnnotationAssertion( "Hand Deformity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008871"^^xsd:string) AnnotationAssertion(rdfs:label "Hand Deformities"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Intellectual Developmental Disorder 73) AnnotationAssertion(Annotation( "MIM:620450"^^xsd:string) "A highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features. Caused by heterozygous mutation in the TAF4 gene on chromosome 20q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-25T10:15:27Z"^^xsd:string) AnnotationAssertion( "MIM:620450"^^xsd:string) AnnotationAssertion( "MRD73"^^xsd:string) AnnotationAssertion( "T4ND"^^xsd:string) AnnotationAssertion( "TAF4-related NDD"^^xsd:string) AnnotationAssertion( "TAF4-related neurodevelopmental disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008872"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 73"^^xsd:string) SubClassOf( ) # Class: (Chromosome 19, Trisomy 19q) AnnotationAssertion( "MESH:C538311"^^xsd:string) AnnotationAssertion( "Duplication 19q"^^xsd:string) AnnotationAssertion( "Trisomy 19q"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008873"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 19, Trisomy 19q"^^xsd:string) SubClassOf( ) # Class: (Steatitis) AnnotationAssertion( "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)"^^xsd:string) AnnotationAssertion( "DOID:4025"^^xsd:string) AnnotationAssertion( "EFO:1001191"^^xsd:string) AnnotationAssertion( "MESH:D013231"^^xsd:string) AnnotationAssertion( "steatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008875"^^xsd:string) AnnotationAssertion(rdfs:label "Steatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Samson Gardner Syndrome) AnnotationAssertion( "MESH:C537230"^^xsd:string) AnnotationAssertion( "Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008876"^^xsd:string) AnnotationAssertion(rdfs:label "Samson Gardner Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Partial Lipodystrophy Type 9) AnnotationAssertion(Annotation( "MIM:620683"^^xsd:string) "An autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Caused by homozygous mutation in the PLAAT3 gene on chromosome 11q12."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-31T09:39:43Z"^^xsd:string) AnnotationAssertion( "MIM:620683"^^xsd:string) AnnotationAssertion( "FPLD9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008877"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Partial Lipodystrophy Type 9"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Self Mutilation) AnnotationAssertion(Annotation( "MESH:D012652"^^xsd:string) "The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body."^^xsd:string) AnnotationAssertion( "MESH:D012652"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008879"^^xsd:string) AnnotationAssertion(rdfs:label "Self Mutilation"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Coronary Artery Disease, Development of, in HIV) AnnotationAssertion( "MESH:C563569"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008881"^^xsd:string) AnnotationAssertion(rdfs:label "Coronary Artery Disease, Development of, in HIV"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (IMMUNODEFICIENCY 119) AnnotationAssertion(Annotation( "OMIM:620825"^^xsd:string) "This disease is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-11T16:25:14Z"^^xsd:string) AnnotationAssertion( "OMIM:620825"^^xsd:string) AnnotationAssertion( "IMD119"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008882"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 119"^^xsd:string) SubClassOf( ) # Class: (Major Affective Disorder 8) AnnotationAssertion( "MIM:612357"^^xsd:string) AnnotationAssertion( "MESH:C567530"^^xsd:string) AnnotationAssertion( "MAFD8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008883"^^xsd:string) AnnotationAssertion(rdfs:label "Major Affective Disorder 8"^^xsd:string) SubClassOf( ) # Class: (Decompression Sickness) AnnotationAssertion(Annotation( "MESH:D003665"^^xsd:string) "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death."^^xsd:string) AnnotationAssertion( "MESH:D003665"^^xsd:string) AnnotationAssertion( "Bends"^^xsd:string) AnnotationAssertion( "Caisson Disease"^^xsd:string) AnnotationAssertion( "Caisson Diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008884"^^xsd:string) AnnotationAssertion(rdfs:label "Decompression Sickness"^^xsd:string) SubClassOf( ) # Class: (Staphylococcal Infections) AnnotationAssertion(Annotation( "MESH:D013203"^^xsd:string) "Infections with bacteria of the genus STAPHYLOCOCCUS."^^xsd:string) AnnotationAssertion( "EFO:0005681"^^xsd:string) AnnotationAssertion( "EFO:0008557"^^xsd:string) AnnotationAssertion( "EFO:0008558"^^xsd:string) AnnotationAssertion( "EFO:1001489"^^xsd:string) AnnotationAssertion( "MESH:D013203"^^xsd:string) AnnotationAssertion( "Staphylococcal Infection"^^xsd:string) AnnotationAssertion( "Methicillin-Susceptible Staphylococcus Aureus Infection"^^xsd:string) AnnotationAssertion( "Vancomycin-Resistant Staphylococcus Aureus Infection"^^xsd:string) AnnotationAssertion( "skin and soft tissue Staphylococcus aureus infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008885"^^xsd:string) AnnotationAssertion(rdfs:label "Staphylococcal Infections"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microvascular Angina) AnnotationAssertion(Annotation( "MESH:D017566"^^xsd:string) "ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease."^^xsd:string) AnnotationAssertion( "MESH:D017566"^^xsd:string) AnnotationAssertion( "Angina Pectoris with Normal Coronary Arteriogram"^^xsd:string) AnnotationAssertion( "Angina Syndrome X"^^xsd:string) AnnotationAssertion( "Angina X Syndromes"^^xsd:string) AnnotationAssertion( "Cardiac Syndrome X"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008887"^^xsd:string) AnnotationAssertion(rdfs:label "Microvascular Angina"^^xsd:string) SubClassOf( ) # Class: (White Forelock with Malformations) AnnotationAssertion( "MIM:277740"^^xsd:string) AnnotationAssertion( "GARD:10081"^^xsd:string) AnnotationAssertion( "MESH:C536700"^^xsd:string) AnnotationAssertion( "MONDO:0010199"^^xsd:string) AnnotationAssertion( "ORDO:2475"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008889"^^xsd:string) AnnotationAssertion(rdfs:label "White Forelock with Malformations"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pseudohypoaldosteronism, Type IIE) AnnotationAssertion( "RDO:9000659"^^xsd:string) AnnotationAssertion( "CUL3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CUL3-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:614496"^^xsd:string) AnnotationAssertion( "PHA2E"^^xsd:string) AnnotationAssertion( "PSEUDOHYPOALDOSTERONISM TYPE 2E"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008890"^^xsd:string) AnnotationAssertion(rdfs:label "Pseudohypoaldosteronism, Type IIE"^^xsd:string) SubClassOf( ) # Class: (Splenogonadal Fusion with Limb Defects and Micrognathia) AnnotationAssertion( "MIM:183300"^^xsd:string) AnnotationAssertion( "MESH:C537318"^^xsd:string) AnnotationAssertion( "Splenogonadal Fusion Limb Defect Syndrome"^^xsd:string) AnnotationAssertion( "Splenogonadal fusion limb defects syndrome"^^xsd:string) AnnotationAssertion( "splenogonadal fusion, limb defects, micrognatia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008891"^^xsd:string) AnnotationAssertion(rdfs:label "Splenogonadal Fusion with Limb Defects and Micrognathia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis) AnnotationAssertion( "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. (OMIM)"^^xsd:string) AnnotationAssertion( "EFO:0009070"^^xsd:string) AnnotationAssertion( "MIM:617333"^^xsd:string) AnnotationAssertion( "BRPF1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IDDDFP"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008892"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Dystocia) AnnotationAssertion(Annotation( "MESH:D004420"^^xsd:string) "Slow or difficult OBSTETRIC LABOR or CHILDBIRTH."^^xsd:string) AnnotationAssertion( "EFO:1000911"^^xsd:string) AnnotationAssertion( "MESH:D004420"^^xsd:string) AnnotationAssertion( "Dystocias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008893"^^xsd:string) AnnotationAssertion(rdfs:label "Dystocia"^^xsd:string) SubClassOf( ) # Class: (Samson Viljoen Syndrome) AnnotationAssertion( "MESH:C537231"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008894"^^xsd:string) AnnotationAssertion(rdfs:label "Samson Viljoen Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Hidradenitis Suppurativa) AnnotationAssertion( "MESH:C538118"^^xsd:string) AnnotationAssertion( "familial acne inversa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008895"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Hidradenitis Suppurativa"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Diffuse Mesangial Sclerosis) AnnotationAssertion( "MESH:C537346"^^xsd:string) AnnotationAssertion( "Diffuse isolated mesangial sclerosis"^^xsd:string) AnnotationAssertion( "Familial mesangial sclerosis"^^xsd:string) AnnotationAssertion( "Nephrotic syndrome, early onset with diffuse mesangial sclerosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008897"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Mesangial Sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Vitelliform Macular Dystrophy 4) AnnotationAssertion( "A disease characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG). (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-05-04T00:00:00Z"^^xsd:string) AnnotationAssertion( "IMPG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:616151"^^xsd:string) AnnotationAssertion( "VMD4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008898"^^xsd:string) AnnotationAssertion(rdfs:label "Vitelliform Macular Dystrophy 4"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Osteochondrosis) AnnotationAssertion(Annotation( "MESH:D055035"^^xsd:string) "A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN."^^xsd:string) AnnotationAssertion( "EFO:0008576"^^xsd:string) AnnotationAssertion( "MESH:D055035"^^xsd:string) AnnotationAssertion( "Osteochondrosis of Spine"^^xsd:string) AnnotationAssertion( "Spinal Osteochondroses"^^xsd:string) AnnotationAssertion( "Spine Osteochondroses"^^xsd:string) AnnotationAssertion( "Spine Osteochondrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008900"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Osteochondrosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Anencephaly and Spina Bifida X-Linked) AnnotationAssertion( "RDO:0001916"^^xsd:string) AnnotationAssertion( "MESH:C536359"^^xsd:string) AnnotationAssertion( "X-linked anencephaly-spina bifida"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008901"^^xsd:string) AnnotationAssertion(rdfs:label "Anencephaly and Spina Bifida X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Polycystic Bone Disease) AnnotationAssertion( "MIM:604771"^^xsd:string) AnnotationAssertion( "MESH:C536324"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008902"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Bone Disease"^^xsd:string) SubClassOf( ) # Class: (Uropathy Distal Obstructive Polydactyly) AnnotationAssertion( "MESH:C536483"^^xsd:string) AnnotationAssertion( "RDO:0002084"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008903"^^xsd:string) AnnotationAssertion(rdfs:label "Uropathy Distal Obstructive Polydactyly"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oocyte/Zygote/Embryo Maturation Arrest 18) AnnotationAssertion( "A female infertility due to early embryonic arrest caused by homozygous or compound heterozygous mutation in the NLRP2 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-04-18T09:39:30Z"^^xsd:string) AnnotationAssertion( "MIM:620332"^^xsd:string) AnnotationAssertion( "OZEMA18"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008905"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte/Zygote/Embryo Maturation Arrest 18"^^xsd:string) SubClassOf( ) # Class: (Myotoxicity) AnnotationAssertion( "Damage to the muscle or its function secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. (MESH)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-30T17:53:31Z"^^xsd:string) AnnotationAssertion( "EFO:0011055"^^xsd:string) AnnotationAssertion( "MESH:D000081030"^^xsd:string) AnnotationAssertion( "Drug Associated Myopathies"^^xsd:string) AnnotationAssertion( "Drug Associated Myopathy"^^xsd:string) AnnotationAssertion( "Drug Induced Myopathies"^^xsd:string) AnnotationAssertion( "Drug Induced Myopathy"^^xsd:string) AnnotationAssertion( "Drug Related Myopathies"^^xsd:string) AnnotationAssertion( "Drug Related Myopathy"^^xsd:string) AnnotationAssertion( "Myalgia-Arthralgia Syndrome"^^xsd:string) AnnotationAssertion( "Toxic Myopathies"^^xsd:string) AnnotationAssertion( "Toxic Myopathy"^^xsd:string) AnnotationAssertion( "musculoskeletal toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008906"^^xsd:string) AnnotationAssertion(rdfs:label "Myotoxicity"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Immuno-Hemolytic Anemia) AnnotationAssertion( "MESH:C538437"^^xsd:string) AnnotationAssertion( "RDO:0004409"^^xsd:string) AnnotationAssertion( "Familial auto-immune hemolytic anemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008907"^^xsd:string) AnnotationAssertion(rdfs:label "Immuno-Hemolytic Anemia"^^xsd:string) SubClassOf( ) # Class: (Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert) AnnotationAssertion( "MIM:206570"^^xsd:string) AnnotationAssertion( "MESH:C536367"^^xsd:string) AnnotationAssertion( "Divry-Van Bogaert syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008908"^^xsd:string) AnnotationAssertion(rdfs:label "Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Stuve-Wiedemann Syndrome 1) AnnotationAssertion( "MIM:601559"^^xsd:string) AnnotationAssertion( "MESH:C537502"^^xsd:string) AnnotationAssertion( "SCHWARTZ-JAMPEL SYNDROME, NEONATAL"^^xsd:string) AnnotationAssertion( "SCHWARTZ-JAMPEL SYNDROME, TYPE 2"^^xsd:string) AnnotationAssertion( "SJS2"^^xsd:string) AnnotationAssertion( "STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME"^^xsd:string) AnnotationAssertion( "STWS"^^xsd:string) AnnotationAssertion( "STWS1"^^xsd:string) AnnotationAssertion( "STÃœVE-WIEDEMANN SYNDROME 1"^^xsd:string) AnnotationAssertion( "SWS"^^xsd:string) AnnotationAssertion( "Schwartz Jampel syndrome neonatal"^^xsd:string) AnnotationAssertion( "Stüve-Wiedemann syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008909"^^xsd:string) AnnotationAssertion(rdfs:label "Stuve-Wiedemann Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (autosomal recessive distal hereditary motor neuronopathy 11) AnnotationAssertion(Annotation( "MIM:620854"^^xsd:string) "A disease characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Caused by homozygous mutation in the RTN2 gene on chromosome 19q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T15:14:04Z"^^xsd:string) AnnotationAssertion( "MIM:620854"^^xsd:string) AnnotationAssertion( "HMNR11"^^xsd:string) AnnotationAssertion( "Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008910"^^xsd:string) AnnotationAssertion(rdfs:label "autosomal recessive distal hereditary motor neuronopathy 11"^^xsd:string) SubClassOf( ) # Class: (Leg Injuries) AnnotationAssertion(Annotation( "MESH:D007869"^^xsd:string) "General or unspecified injuries involving the leg."^^xsd:string) AnnotationAssertion( "EFO:0009508"^^xsd:string) AnnotationAssertion( "MESH:D007869"^^xsd:string) AnnotationAssertion( "RDO:0005588"^^xsd:string) AnnotationAssertion( "Leg Injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008911"^^xsd:string) AnnotationAssertion(rdfs:label "Leg Injuries"^^xsd:string) SubClassOf( ) # Class: (Ovalocytosis, Malaysian-Melanesian-Filipino Type) AnnotationAssertion( "MIM:109270"^^xsd:string) AnnotationAssertion( "MIM:166900"^^xsd:string) AnnotationAssertion( "RDO:0014641"^^xsd:string) AnnotationAssertion( "RDO:0014642"^^xsd:string) AnnotationAssertion( "MESH:C566230"^^xsd:string) AnnotationAssertion( "MESH:C566231"^^xsd:string) AnnotationAssertion( "EL4"^^xsd:string) AnnotationAssertion( "ELLIPTOCYTOSIS 4"^^xsd:string) AnnotationAssertion( "ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY"^^xsd:string) AnnotationAssertion( "HE, STOMATOCYTIC"^^xsd:string) AnnotationAssertion( "SAO"^^xsd:string) AnnotationAssertion( "southeast asian ovalocytosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008912"^^xsd:string) AnnotationAssertion(rdfs:label "Ovalocytosis, Malaysian-Melanesian-Filipino Type"^^xsd:string) SubClassOf( ) # Class: (Chromosome 17q23.1-q23.2 Duplication Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-08-22T10:16:04Z"^^xsd:string) AnnotationAssertion( "MIM:613618"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008913"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 17q23.1-q23.2 Duplication Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Lead Poisoning) AnnotationAssertion(Annotation( "MESH:D007855"^^xsd:string) "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of LEAD or lead compounds."^^xsd:string) AnnotationAssertion( "MESH:D007855"^^xsd:string) AnnotationAssertion( "Lead Poisonings"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008914"^^xsd:string) AnnotationAssertion(rdfs:label "Lead Poisoning"^^xsd:string) SubClassOf( ) # Class: (Ataxia with Fasciculations) AnnotationAssertion( "MIM:108700"^^xsd:string) AnnotationAssertion( "MESH:C566246"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008915"^^xsd:string) AnnotationAssertion(rdfs:label "Ataxia with Fasciculations"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Prenatal Bowing) AnnotationAssertion( "MIM:264050"^^xsd:string) AnnotationAssertion( "MESH:C564873"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008916"^^xsd:string) AnnotationAssertion(rdfs:label "Prenatal Bowing"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 122) AnnotationAssertion(Annotation( "MIM:620869"^^xsd:string) "An autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Caused by homozygous mutation in the POLD3 gene on chromosome 11q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T15:25:50Z"^^xsd:string) AnnotationAssertion( "MIM:620869"^^xsd:string) AnnotationAssertion( "IMD122"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008917"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 122"^^xsd:string) SubClassOf( ) # Class: (Hypomyelinating Leukodystrophy 27) AnnotationAssertion(Annotation( "MIM:620675"^^xsd:string) "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired motor and intellectual development apparent from infancy. Caused by homozygous mutation in the POLR1A gene on chromosome 2p11."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-01-19T10:43:32Z"^^xsd:string) AnnotationAssertion( "POLR1A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:620675"^^xsd:string) AnnotationAssertion( "HLD27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008918"^^xsd:string) AnnotationAssertion(rdfs:label "Hypomyelinating Leukodystrophy 27"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinal Arterial Venous Malformations with Cutaneous Hemangiomas) AnnotationAssertion( "MESH:C566282"^^xsd:string) AnnotationAssertion( "RDO:0014678"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008920"^^xsd:string) AnnotationAssertion(rdfs:label "Spinal Arterial Venous Malformations with Cutaneous Hemangiomas"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome 3, Monosomy 3q27) AnnotationAssertion( "MESH:C536810"^^xsd:string) AnnotationAssertion( "Deletion 3q27"^^xsd:string) AnnotationAssertion( "Monosomy 3q27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008923"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome 3, Monosomy 3q27"^^xsd:string) SubClassOf( ) # Class: (Female Pseudohermaphroditism with Skeletal Anomalies) AnnotationAssertion( "MIM:264270"^^xsd:string) AnnotationAssertion( "MESH:C564869"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008924"^^xsd:string) AnnotationAssertion(rdfs:label "Female Pseudohermaphroditism with Skeletal Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Multiple Trichodiscomas) AnnotationAssertion( "An autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:190340"^^xsd:string) AnnotationAssertion( "MESH:C536847"^^xsd:string) AnnotationAssertion( "FMDF"^^xsd:string) AnnotationAssertion( "familial multiple discoid fibromas"^^xsd:string) AnnotationAssertion( "hereditary multiple trichodiscomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008925"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Multiple Trichodiscomas"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Arbovirus Encephalitis) AnnotationAssertion( "Infections of the brain caused by arthropod-borne viruses (i.e., arboviruses) primarily from the families TOGAVIRIDAE; FLAVIVIRIDAE; BUNYAVIRIDAE; REOVIRIDAE; and RHABDOVIRIDAE. Life cycles of these viruses are characterized by ZOONOSES, with birds and lower mammals serving as intermediate hosts. The virus is transmitted to humans by the bite of mosquitoes (CULICIDAE) or TICKS. Clinical manifestations include fever, headache, alterations of mentation, focal neurologic deficits, and COMA. (From Clin Microbiol Rev 1994 Jan;7(1):89-116; Walton, Brain's Diseases of the Nervous System, 10th ed, p321)"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( "MESH:D004671"^^xsd:string) AnnotationAssertion( "Arbovirus Encephalitides"^^xsd:string) AnnotationAssertion( "Arthropod Borne Encephalitis"^^xsd:string) AnnotationAssertion( "Arthropod Borne Viral Encephalitis"^^xsd:string) AnnotationAssertion( "Arthropod-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "Arthropod-Borne Viral Encephalitides"^^xsd:string) AnnotationAssertion( "Mosquito Borne Encephalitis"^^xsd:string) AnnotationAssertion( "Mosquito-Borne Encephalitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008926"^^xsd:string) AnnotationAssertion(rdfs:label "Arbovirus Encephalitis"^^xsd:string) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive) AnnotationAssertion( "MIM:615028"^^xsd:string) AnnotationAssertion( "EBNS"^^xsd:string) AnnotationAssertion( "EBS4"^^xsd:string) AnnotationAssertion( "Epidermolysis Bullosa, Nonspecific, Autosomal Recessive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008927"^^xsd:string) AnnotationAssertion(rdfs:label "Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Smear Layer) AnnotationAssertion(Annotation( "MESH:D016369"^^xsd:string) "Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin."^^xsd:string) AnnotationAssertion( "MESH:D016369"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008928"^^xsd:string) AnnotationAssertion(rdfs:label "Smear Layer"^^xsd:string) SubClassOf( ) # Class: (Obstetric Paralysis) AnnotationAssertion(Annotation( "MESH:D010246"^^xsd:string) "Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001385"^^xsd:string) AnnotationAssertion( "MESH:D010246"^^xsd:string) AnnotationAssertion( "Obstetric Paralyses"^^xsd:string) AnnotationAssertion( "Obstetrical Paralyses"^^xsd:string) AnnotationAssertion( "Obstetrical Paralysis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008929"^^xsd:string) AnnotationAssertion(rdfs:label "Obstetric Paralysis"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (X-Linked Intellectual Developmental Disorder 113) AnnotationAssertion(Annotation( "MIM:301116"^^xsd:string) "A disease characterized by mild speech delay and learning difficulties in affected males. Caused by hemizygous mutation in the CSTF2 gene on chromosome Xq22."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-02-12T10:17:27Z"^^xsd:string) AnnotationAssertion( "MIM:301116"^^xsd:string) AnnotationAssertion( "XLID113"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008931"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Intellectual Developmental Disorder 113"^^xsd:string) SubClassOf( ) # Class: (ALAGILLE SYNDROME 2) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-02-08T14:41:07Z"^^xsd:string) AnnotationAssertion( "NOTCH2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:610205"^^xsd:string) AnnotationAssertion( "ALGS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008932"^^xsd:string) AnnotationAssertion(rdfs:label "ALAGILLE SYNDROME 2"^^xsd:string) SubClassOf( ) # Class: (Kozlowski-Krajewska Syndrome) AnnotationAssertion( "MESH:C537615"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008933"^^xsd:string) AnnotationAssertion(rdfs:label "Kozlowski-Krajewska Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Van der Woude Syndrome 2) AnnotationAssertion( "MIM:606713"^^xsd:string) AnnotationAssertion( "MESH:C536529"^^xsd:string) AnnotationAssertion( "VWS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008934"^^xsd:string) AnnotationAssertion(rdfs:label "Van der Woude Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Camptodactyly Syndrome Guadalajara Type) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-05-29T14:06:59Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008935"^^xsd:string) AnnotationAssertion(rdfs:label "Camptodactyly Syndrome Guadalajara Type"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Platelet Receptor for Collagen, Deficiency of) AnnotationAssertion( "MESH:C565999"^^xsd:string) AnnotationAssertion( "RDO:0014485"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008936"^^xsd:string) AnnotationAssertion(rdfs:label "Platelet Receptor for Collagen, Deficiency of"^^xsd:string) SubClassOf( ) # Class: (Histiocytic Necrotizing Lymphadenitis) AnnotationAssertion(Annotation( "MESH:D020042"^^xsd:string) "Development of lesions in the lymph node characterized by infiltration of the cortex or paracortex by large collections of proliferating histiocytes and complete or, more often, incomplete necrosis of lymphoid tissue."^^xsd:string) AnnotationAssertion( "MESH:D020042"^^xsd:string) AnnotationAssertion( "RDO:0007308"^^xsd:string) AnnotationAssertion( "Histiocytic Necrotising Lymphadenitides"^^xsd:string) AnnotationAssertion( "Histiocytic Necrotising Lymphadenitis"^^xsd:string) AnnotationAssertion( "Kikuchi Disease"^^xsd:string) AnnotationAssertion( "Kikuchi Fujimoto Disease"^^xsd:string) AnnotationAssertion( "Kikuchi Fujimoto's Disease"^^xsd:string) AnnotationAssertion( "Kikuchi Necrotizing Lymphadenitis"^^xsd:string) AnnotationAssertion( "Kikuchi's Disease"^^xsd:string) AnnotationAssertion( "Kikuchi-Fujimotos Disease"^^xsd:string) AnnotationAssertion( "Kikuchis Disease"^^xsd:string) AnnotationAssertion( "Nosocomial Kikuchi Disease"^^xsd:string) AnnotationAssertion( "Nosocomial Kikuchi's Disease"^^xsd:string) AnnotationAssertion( "Nosocomial Kikuchis Disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008937"^^xsd:string) AnnotationAssertion(rdfs:label "Histiocytic Necrotizing Lymphadenitis"^^xsd:string) SubClassOf( ) # Class: (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-04T11:51:19Z"^^xsd:string) AnnotationAssertion( "MIM:619082"^^xsd:string) AnnotationAssertion( "MRCS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008938"^^xsd:string) AnnotationAssertion(rdfs:label "Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Breast Neoplasms) AnnotationAssertion(Annotation( "MESH:D001943"^^xsd:string) "Tumors or cancer of the human BREAST."^^xsd:string) AnnotationAssertion( "EFO:0003869"^^xsd:string) AnnotationAssertion( "MESH:D001943"^^xsd:string) AnnotationAssertion( "breast neoplasm"^^xsd:string) AnnotationAssertion( "breast tumor"^^xsd:string) AnnotationAssertion( "breast tumors"^^xsd:string) AnnotationAssertion( "human mammary neoplasm"^^xsd:string) AnnotationAssertion( "human mammary neoplasms"^^xsd:string) AnnotationAssertion( "BRIP1-related disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008939"^^xsd:string) AnnotationAssertion(rdfs:label "Breast Neoplasms"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Dianzani Autoimmune Lymphoproliferative Syndrome) AnnotationAssertion( "MIM:605233"^^xsd:string) AnnotationAssertion( "MESH:C535950"^^xsd:string) AnnotationAssertion( "Autoimmune lymphoproliferative syndrome without FAS mutations"^^xsd:string) AnnotationAssertion( "Dianzani autoimmune lymphoproliferative disease"^^xsd:string) AnnotationAssertion( "Dianzani form of autoimmune lymphoproliferative disease"^^xsd:string) AnnotationAssertion( "autoimmune lymphoproliferative disease without FAS mutations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008940"^^xsd:string) AnnotationAssertion(rdfs:label "Dianzani Autoimmune Lymphoproliferative Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Muscle Hypertonia) AnnotationAssertion(Annotation( "MESH:D009122"^^xsd:string) "Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES."^^xsd:string) AnnotationAssertion( "OMIA:001592"^^xsd:string) AnnotationAssertion( "MESH:D009122"^^xsd:string) AnnotationAssertion( "Detrusor Muscle Hypertonia"^^xsd:string) AnnotationAssertion( "Detrusor Muscle Hypertonias"^^xsd:string) AnnotationAssertion( "Hypermyotonia"^^xsd:string) AnnotationAssertion( "Hypermyotonias"^^xsd:string) AnnotationAssertion( "Infantile Hypertonia"^^xsd:string) AnnotationAssertion( "Infantile Hypertonias"^^xsd:string) AnnotationAssertion( "Muscle Hypertonias"^^xsd:string) AnnotationAssertion( "Muscle Tone Increased"^^xsd:string) AnnotationAssertion( "Muscular Hypertonicities"^^xsd:string) AnnotationAssertion( "Muscular Hypertonicity"^^xsd:string) AnnotationAssertion( "Neonatal Hypertonia"^^xsd:string) AnnotationAssertion( "Neonatal Hypertonias"^^xsd:string) AnnotationAssertion( "Sphincter Hypertonia"^^xsd:string) AnnotationAssertion( "Sphincter Hypertonias"^^xsd:string) AnnotationAssertion( "Transient Hypertonia"^^xsd:string) AnnotationAssertion( "Transient Hypertonias"^^xsd:string) AnnotationAssertion( "EFS"^^xsd:string) AnnotationAssertion( "episodic falling syndrome"^^xsd:string) AnnotationAssertion( "paroxysmal hypertonicity disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008941"^^xsd:string) AnnotationAssertion(rdfs:label "Muscle Hypertonia"^^xsd:string) SubClassOf( ) # Class: (Congenital Adrenal Hypoplasia with Precocious Puberty) AnnotationAssertion( "MESH:C564568"^^xsd:string) AnnotationAssertion( "Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008942"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Adrenal Hypoplasia with Precocious Puberty"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Hypodontia) AnnotationAssertion( "RDO:0002928"^^xsd:string) AnnotationAssertion( "MESH:C537148"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008943"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Hypodontia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Calcifying Epithelial Odontogenic Tumor) AnnotationAssertion( "MESH:C537961"^^xsd:string) AnnotationAssertion( "RDO:0003885"^^xsd:string) AnnotationAssertion( "Pindborg tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008944"^^xsd:string) AnnotationAssertion(rdfs:label "Calcifying Epithelial Odontogenic Tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Gram-Negative Bacterial Infections) AnnotationAssertion(Annotation( "MESH:D016905"^^xsd:string) "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method."^^xsd:string) AnnotationAssertion( "MESH:D016905"^^xsd:string) AnnotationAssertion( "MONDO:0021678"^^xsd:string) AnnotationAssertion( "Gram-Negative Bacterial Infection"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008945"^^xsd:string) AnnotationAssertion(rdfs:label "Gram-Negative Bacterial Infections"^^xsd:string) SubClassOf( ) # Class: (Multiple Pterygium Syndrome, X-Linked) AnnotationAssertion( "MIM:312150"^^xsd:string) AnnotationAssertion( "GARD:4573"^^xsd:string) AnnotationAssertion( "MESH:C564072"^^xsd:string) AnnotationAssertion( "MONDO:0010716"^^xsd:string) AnnotationAssertion( "ORDO:79447"^^xsd:string) AnnotationAssertion( "X-linked lethal multiple pterygium syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008946"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple Pterygium Syndrome, X-Linked"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Posterior Capsular Rupture, Ocular) AnnotationAssertion(Annotation( "MESH:D057851"^^xsd:string) "A breach in the continuity of the posterior chamber of the eyeball."^^xsd:string) AnnotationAssertion( "EFO:1001817"^^xsd:string) AnnotationAssertion( "MESH:D057851"^^xsd:string) AnnotationAssertion( "RDO:0007798"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008947"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Capsular Rupture, Ocular"^^xsd:string) SubClassOf( ) # Class: (Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive) AnnotationAssertion( "MESH:C566615"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008948"^^xsd:string) AnnotationAssertion(rdfs:label "Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Hyperproglucagonemia) AnnotationAssertion( "MIM:145270"^^xsd:string) AnnotationAssertion( "MESH:C564159"^^xsd:string) AnnotationAssertion( "large molecular weight species of glucagon"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008949"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperproglucagonemia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Hernandez Aguirre-Negrete Syndrome) AnnotationAssertion( "MESH:C538112"^^xsd:string) AnnotationAssertion( "RDO:0004045"^^xsd:string) AnnotationAssertion( "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation"^^xsd:string) AnnotationAssertion( "Hernández Aguirre-Negrete syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008951"^^xsd:string) AnnotationAssertion(rdfs:label "Hernandez Aguirre-Negrete Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Breast Cancer, Familial) AnnotationAssertion( "MESH:C562840"^^xsd:string) AnnotationAssertion( "FAMILIAL CANCER OF BREAST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008952"^^xsd:string) AnnotationAssertion(rdfs:label "Breast Cancer, Familial"^^xsd:string) SubClassOf( ) # Class: (Binge-Eating Disorder) AnnotationAssertion(Annotation( "MESH:D056912"^^xsd:string) "A disorder associated with three or more of the following: eating until feeling uncomfortably full; eating large amounts of food when not physically hungry; eating much more rapidly than normal; eating alone due to embarrassment; feeling of disgust, DEPRESSION, or guilt after overeating. Criteria includes occurrence on average, at least 2 days a week for 6 months. The binge eating is not associated with the regular use of inappropriate compensatory behavior (i.e. purging, excessive exercise, etc.) and does not co-occur exclusively with BULIMIA NERVOSA or ANOREXIA NERVOSA. (From DSM-IV, 1994)"^^xsd:string) AnnotationAssertion( "MESH:D056912"^^xsd:string) AnnotationAssertion( "NCI:C97162"^^xsd:string) AnnotationAssertion( "Binge-Eating Disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008953"^^xsd:string) AnnotationAssertion(rdfs:label "Binge-Eating Disorder"^^xsd:string) SubClassOf( ) # Class: (Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA) AnnotationAssertion( "MIM:560000"^^xsd:string) AnnotationAssertion( "MESH:C564014"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008954"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Primary Orthostatic Tremor) AnnotationAssertion( "MESH:C536418"^^xsd:string) AnnotationAssertion( "RDO:0002006"^^xsd:string) AnnotationAssertion( "Shaky leg syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008955"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Orthostatic Tremor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE) AnnotationAssertion(Annotation( "MIM:618183"^^xsd:string) "A disease characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-10T18:24:50Z"^^xsd:string) AnnotationAssertion( "MIM:618183"^^xsd:string) AnnotationAssertion( "DIAR10"^^xsd:string) AnnotationAssertion( "diarrhea-10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008956"^^xsd:string) AnnotationAssertion(rdfs:label "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE"^^xsd:string) SubClassOf( ) # Class: (Urachal Cyst) AnnotationAssertion(Annotation( "MESH:D014496"^^xsd:string) "Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus."^^xsd:string) AnnotationAssertion( "MESH:D014496"^^xsd:string) AnnotationAssertion( "Umbilical Cyst"^^xsd:string) AnnotationAssertion( "Umbilical Cysts"^^xsd:string) AnnotationAssertion( "Urachal Cysts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008957"^^xsd:string) AnnotationAssertion(rdfs:label "Urachal Cyst"^^xsd:string) SubClassOf( ) # Class: (Autosomal Recessive Dyskeratosis Congenita 7) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2015-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "DKCB7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008958"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Recessive Dyskeratosis Congenita 7"^^xsd:string) SubClassOf( ) # Class: (Liang-Wang Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-01-13T11:17:46Z"^^xsd:string) AnnotationAssertion( "MIM:618729"^^xsd:string) AnnotationAssertion( "LIWAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008959"^^xsd:string) AnnotationAssertion(rdfs:label "Liang-Wang Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Pancreatic Adenoma) AnnotationAssertion( "MESH:C538110"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008960"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Adenoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-23T16:12:18Z"^^xsd:string) AnnotationAssertion( "MIM:619092"^^xsd:string) AnnotationAssertion( "NEDMILEG"^^xsd:string) AnnotationAssertion( "Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008961"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pierre Robin Sequence with Facial and Digital Anomalies) AnnotationAssertion( "MIM:311895"^^xsd:string) AnnotationAssertion( "MESH:C564078"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008962"^^xsd:string) AnnotationAssertion(rdfs:label "Pierre Robin Sequence with Facial and Digital Anomalies"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Robin Sequence and Oligodactyly) AnnotationAssertion( "MIM:172880"^^xsd:string) AnnotationAssertion( "MESH:C535688"^^xsd:string) AnnotationAssertion( "Pierre Robin syndrome and oligodactyly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008963"^^xsd:string) AnnotationAssertion(rdfs:label "Robin Sequence and Oligodactyly"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bronchomalacia) AnnotationAssertion(Annotation( "MESH:D055091"^^xsd:string) "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing."^^xsd:string) AnnotationAssertion( "MIM:211450"^^xsd:string) AnnotationAssertion( "MESH:D055091"^^xsd:string) AnnotationAssertion( "MONDO:0008888"^^xsd:string) AnnotationAssertion( "ORDO:411501"^^xsd:string) AnnotationAssertion( "Williams-Campbell syndrome"^^xsd:string) AnnotationAssertion( "bronchi chondromalacia"^^xsd:string) AnnotationAssertion( "bronchi chondromalacias"^^xsd:string) AnnotationAssertion( "bronchomalacias"^^xsd:string) AnnotationAssertion( "chondromalacia of bronchi"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008965"^^xsd:string) AnnotationAssertion(rdfs:label "Bronchomalacia"^^xsd:string) SubClassOf( ) # Class: (Blastocystis Infections) AnnotationAssertion(Annotation( "MESH:D016776"^^xsd:string) "Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE."^^xsd:string) AnnotationAssertion( "EFO:0007173"^^xsd:string) AnnotationAssertion( "MESH:D016776"^^xsd:string) AnnotationAssertion( "RDO:0006996"^^xsd:string) AnnotationAssertion( "Blastocystis Infection"^^xsd:string) AnnotationAssertion( "blastocystosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008966"^^xsd:string) AnnotationAssertion(rdfs:label "Blastocystis Infections"^^xsd:string) SubClassOf( ) # Class: (Brain Concussion) AnnotationAssertion(Annotation( "MESH:D001924"^^xsd:string) "A nonspecific term used to describe transient alterations or loss of consciousness following closed head injuries. The duration of UNCONSCIOUSNESS generally lasts a few seconds, but may persist for several hours. Concussions may be classified as mild, intermediate, and severe. Prolonged periods of unconsciousness (often defined as greater than 6 hours in duration) may be referred to as post-traumatic coma (COMA, POST-HEAD INJURY). (From Rowland, Merritt's Textbook of Neurology, 9th ed, p418)"^^xsd:string) AnnotationAssertion( "EFO:0011023"^^xsd:string) AnnotationAssertion( "MESH:D001924"^^xsd:string) AnnotationAssertion( "RDO:0005052"^^xsd:string) AnnotationAssertion( "Brain Concussions"^^xsd:string) AnnotationAssertion( "Cerebral Concussion"^^xsd:string) AnnotationAssertion( "Cerebral Concussions"^^xsd:string) AnnotationAssertion( "Commotio Cerebri"^^xsd:string) AnnotationAssertion( "Intermediate Concussion"^^xsd:string) AnnotationAssertion( "Intermediate Concussions"^^xsd:string) AnnotationAssertion( "Mild Concussion"^^xsd:string) AnnotationAssertion( "Mild Concussions"^^xsd:string) AnnotationAssertion( "Mild Traumatic Brain Injury"^^xsd:string) AnnotationAssertion( "Severe Concussion"^^xsd:string) AnnotationAssertion( "Severe Concussions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008967"^^xsd:string) AnnotationAssertion(rdfs:label "Brain Concussion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Thanatophoric Dysplasia, Type I) AnnotationAssertion( "MIM:187600"^^xsd:string) AnnotationAssertion( "RDO:0015077"^^xsd:string) AnnotationAssertion( "MESH:C566844"^^xsd:string) AnnotationAssertion( "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type"^^xsd:string) AnnotationAssertion( "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type"^^xsd:string) AnnotationAssertion( "TD"^^xsd:string) AnnotationAssertion( "TD1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008968"^^xsd:string) AnnotationAssertion(rdfs:label "Thanatophoric Dysplasia, Type I"^^xsd:string) SubClassOf( ) # Class: (Dandy Walker Variant) AnnotationAssertion( "MESH:C535772"^^xsd:string) AnnotationAssertion( "RDO:0001073"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008969"^^xsd:string) AnnotationAssertion(rdfs:label "Dandy Walker Variant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Inability to Smell Musk) AnnotationAssertion( "MIM:254150"^^xsd:string) AnnotationAssertion( "MESH:C564980"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008971"^^xsd:string) AnnotationAssertion(rdfs:label "Inability to Smell Musk"^^xsd:string) SubClassOf( ) # Class: (Hyperammonemia) AnnotationAssertion(Annotation( "MESH:D022124"^^xsd:string) "Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA."^^xsd:string) AnnotationAssertion( "MESH:D022124"^^xsd:string) AnnotationAssertion( "HYPERAMMONEMIA, TYPE III"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "HYPERAMMONAEMIA"^^xsd:string) AnnotationAssertion( "DOID:9008972"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperammonemia"^^xsd:string) SubClassOf( ) # Class: (Familial Persistent Stuttering 4) AnnotationAssertion( "MIM:614668"^^xsd:string) AnnotationAssertion( "STUT4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008973"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Persistent Stuttering 4"^^xsd:string) SubClassOf( ) # Class: (Menke-Hennekam Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-25T12:19:33Z"^^xsd:string) AnnotationAssertion( "CREBBP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0010252"^^xsd:string) AnnotationAssertion( "MIM:618332"^^xsd:string) AnnotationAssertion( "MKHK1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008974"^^xsd:string) AnnotationAssertion(rdfs:label "Menke-Hennekam Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Gastrointestinal Hemorrhage) AnnotationAssertion(Annotation( "MESH:D006471"^^xsd:string) "Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM."^^xsd:string) AnnotationAssertion( "HP:0002239"^^xsd:string) AnnotationAssertion( "MESH:D006471"^^xsd:string) AnnotationAssertion( "gastrointestinal hemorrhages"^^xsd:string) AnnotationAssertion( "hematochezia"^^xsd:string) AnnotationAssertion( "hematochezias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008975"^^xsd:string) AnnotationAssertion(rdfs:label "Gastrointestinal Hemorrhage"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Bovine Trypanosomiasis) AnnotationAssertion(Annotation( "MESH:D014354"^^xsd:string) "Infection in cattle caused by various species of trypanosomes."^^xsd:string) AnnotationAssertion( "MESH:D014354"^^xsd:string) AnnotationAssertion( "Bovine Trypanosomiases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008976"^^xsd:string) AnnotationAssertion(rdfs:label "Bovine Trypanosomiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification) AnnotationAssertion( "MIM:603589"^^xsd:string) AnnotationAssertion( "MESH:C567039"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008977"^^xsd:string) AnnotationAssertion(rdfs:label "Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Trichoodontoonychial Dysplasia) AnnotationAssertion( "MESH:C564760"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008978"^^xsd:string) AnnotationAssertion(rdfs:label "Trichoodontoonychial Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Rett Syndrome, Congenital Variant) AnnotationAssertion( "MIM:613454"^^xsd:string) AnnotationAssertion( "NCI:C176903"^^xsd:string) AnnotationAssertion( "FOXG1 DISORDER"^^xsd:string) AnnotationAssertion( "FOXG1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008979"^^xsd:string) AnnotationAssertion(rdfs:label "Rett Syndrome, Congenital Variant"^^xsd:string) SubClassOf( ) # Class: (Subcutaneous Panniculitis-like T-Cell Lymphoma) AnnotationAssertion( "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative. SPTCL is conferred by homozygous or compound heterozygous mutation in the HAVCR2 gene on chromosome 5q33. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:618398"^^xsd:string) AnnotationAssertion( "RDO:0003353"^^xsd:string) AnnotationAssertion( "EFO:1000552"^^xsd:string) AnnotationAssertion( "MESH:C537503"^^xsd:string) AnnotationAssertion( "SPTCL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008980"^^xsd:string) AnnotationAssertion(rdfs:label "Subcutaneous Panniculitis-like T-Cell Lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperlexia) AnnotationAssertion( "MIM:238350"^^xsd:string) AnnotationAssertion( "MESH:C565500"^^xsd:string) AnnotationAssertion( "Compulsive Reading"^^xsd:string) AnnotationAssertion( "Precocious Reading"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008981"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperlexia"^^xsd:string) SubClassOf( ) # Class: (Welander Distal Myopathy, Swedish Type) AnnotationAssertion( "MIM:604454"^^xsd:string) AnnotationAssertion( "MESH:C536690"^^xsd:string) AnnotationAssertion( "Distal myopathy, Swedish"^^xsd:string) AnnotationAssertion( "Distal myopathy, Swedish type"^^xsd:string) AnnotationAssertion( "MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "WDM"^^xsd:string) AnnotationAssertion( "WELANDER DISTAL MYOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008982"^^xsd:string) AnnotationAssertion(rdfs:label "Welander Distal Myopathy, Swedish Type"^^xsd:string) SubClassOf( ) # Class: (Keratosis Palmaris et Plantaris with Clinodactyly) AnnotationAssertion( "MIM:148520"^^xsd:string) AnnotationAssertion( "MESH:C563646"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008983"^^xsd:string) AnnotationAssertion(rdfs:label "Keratosis Palmaris et Plantaris with Clinodactyly"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Chromosome Inversion) AnnotationAssertion(Annotation( "MESH:D007446"^^xsd:string) "An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome."^^xsd:string) AnnotationAssertion( "MESH:D007446"^^xsd:string) AnnotationAssertion( "RDO:0005905"^^xsd:string) AnnotationAssertion( "Chromosomal Inversion"^^xsd:string) AnnotationAssertion( "Chromosomal Inversions"^^xsd:string) AnnotationAssertion( "Chromosome Inversions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008985"^^xsd:string) AnnotationAssertion(rdfs:label "Chromosome Inversion"^^xsd:string) SubClassOf( ) # Class: (Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts) AnnotationAssertion( "MIM:259410"^^xsd:string) AnnotationAssertion( "MESH:C537558"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008986"^^xsd:string) AnnotationAssertion(rdfs:label "Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Biliary Fistula) AnnotationAssertion(Annotation( "MESH:D001658"^^xsd:string) "Abnormal passage in any organ of the biliary tract or between biliary organs and other organs."^^xsd:string) AnnotationAssertion( "MESH:D001658"^^xsd:string) AnnotationAssertion( "Biliary Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008987"^^xsd:string) AnnotationAssertion(rdfs:label "Biliary Fistula"^^xsd:string) SubClassOf( ) # Class: (Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1) AnnotationAssertion( "NALCN-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NALCN-RELATED DISORDERS"^^xsd:string) AnnotationAssertion( "MIM:615419"^^xsd:string) AnnotationAssertion( "IHPRF"^^xsd:string) AnnotationAssertion( "IHPRF1"^^xsd:string) AnnotationAssertion( "Infantile neuroaxonal neurodegeneration with facial dysmorphism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008988"^^xsd:string) AnnotationAssertion(rdfs:label "Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1"^^xsd:string) SubClassOf( ) # Class: (Familial Letterer-Siwe Disease) AnnotationAssertion( "MIM:246400"^^xsd:string) AnnotationAssertion( "RDO:0004557"^^xsd:string) AnnotationAssertion( "MESH:C538636"^^xsd:string) AnnotationAssertion( "Histiocytosis X, acute disseminated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008989"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Letterer-Siwe Disease"^^xsd:string) SubClassOf( ) # Class: (Cerebrooculonasal Syndrome) AnnotationAssertion( "MIM:605627"^^xsd:string) AnnotationAssertion( "MESH:C565313"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008990"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebrooculonasal Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (IMMUNODEFICIENCY 15) AnnotationAssertion( "Autosomal recessive or dominant syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-01-09T17:50:01Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008991"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY 15"^^xsd:string) SubClassOf( ) # Class: (ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME) AnnotationAssertion( "MIM:616029"^^xsd:string) AnnotationAssertion( "ECTDS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008992"^^xsd:string) AnnotationAssertion(rdfs:label "ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Myotonia) AnnotationAssertion(Annotation( "MESH:D009222"^^xsd:string) "Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS."^^xsd:string) AnnotationAssertion( "OMIA:000698"^^xsd:string) AnnotationAssertion( "MESH:D009222"^^xsd:string) AnnotationAssertion( "Myotonias"^^xsd:string) AnnotationAssertion( "Myotonic Phenomenon"^^xsd:string) AnnotationAssertion( "Myotonic Phenomenons"^^xsd:string) AnnotationAssertion( "Percussion Myotonia"^^xsd:string) AnnotationAssertion( "Percussion Myotonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008993"^^xsd:string) AnnotationAssertion(rdfs:label "Myotonia"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY) AnnotationAssertion(Annotation( "MIM:620027"^^xsd:string) "This disease is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-07-18T13:32:04Z"^^xsd:string) AnnotationAssertion( "MIM:620027"^^xsd:string) AnnotationAssertion( "NEDMISS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008994"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY"^^xsd:string) SubClassOf( ) # Class: (Posterior Column Ataxia) AnnotationAssertion( "MIM:176250"^^xsd:string) AnnotationAssertion( "MESH:C536342"^^xsd:string) AnnotationAssertion( "Biemond ataxia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008995"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Column Ataxia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Heme Oxygenase 1 Deficiency) AnnotationAssertion( "MIM:614034"^^xsd:string) AnnotationAssertion( "MESH:C564200"^^xsd:string) AnnotationAssertion( "HMOX1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "HMOX1D"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008996"^^xsd:string) AnnotationAssertion(rdfs:label "Heme Oxygenase 1 Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (X-Linked Intellectual Developmental Disorder 112) AnnotationAssertion(Annotation( "MIM:301111"^^xsd:string) "A neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Caused by hemizygous or heterozygous mutation in the ZMYM3 gene on chromosome Xq13."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-25T09:51:00Z"^^xsd:string) AnnotationAssertion( "MIM:301111"^^xsd:string) AnnotationAssertion( "XLID112"^^xsd:string) AnnotationAssertion( "ZMYM3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008997"^^xsd:string) AnnotationAssertion(rdfs:label "X-Linked Intellectual Developmental Disorder 112"^^xsd:string) SubClassOf( ) # Class: (Formaldehyde Poisoning) AnnotationAssertion( "MESH:C537268"^^xsd:string) AnnotationAssertion( "RDO:0003074"^^xsd:string) AnnotationAssertion( "Formaldehyde Exposure"^^xsd:string) AnnotationAssertion( "Formaldehyde Toxicity"^^xsd:string) AnnotationAssertion( "Formalin Intoxication"^^xsd:string) AnnotationAssertion( "Formalin Toxicity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9008998"^^xsd:string) AnnotationAssertion(rdfs:label "Formaldehyde Poisoning"^^xsd:string) SubClassOf( ) # Class: (Hereditary Pancreatitis) AnnotationAssertion( "GARD:6632"^^xsd:string) AnnotationAssertion( "MESH:C537262"^^xsd:string) AnnotationAssertion( "MIM:167800"^^xsd:string) AnnotationAssertion( "MONDO:0008185"^^xsd:string) AnnotationAssertion( "OMIA:001403"^^xsd:string) AnnotationAssertion( "ORDO:676"^^xsd:string) AnnotationAssertion( "Autosomal Dominant Hereditary Pancreatitis"^^xsd:string) AnnotationAssertion( "Familial Pancreatitis"^^xsd:string) AnnotationAssertion( "HP"^^xsd:string) AnnotationAssertion( "HPC"^^xsd:string) AnnotationAssertion( "Hereditary Chronic Pancreatitis"^^xsd:string) AnnotationAssertion( "PCTT"^^xsd:string) AnnotationAssertion( "PANCREATITIS, CALCIFIC"^^xsd:string) AnnotationAssertion( "PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "PANCREATITIS, CHRONIC, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9008999"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Pancreatitis"^^xsd:string) SubClassOf( ) # Class: (Zonular Cataract and Nystagmus) AnnotationAssertion( "MESH:C536727"^^xsd:string) AnnotationAssertion( "RDO:0002390"^^xsd:string) AnnotationAssertion( "Nystagmus with congenital zonular cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009000"^^xsd:string) AnnotationAssertion(rdfs:label "Zonular Cataract and Nystagmus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Kaplan Plauchu Fitch Syndrome) AnnotationAssertion( "MIM:201050"^^xsd:string) AnnotationAssertion( "MESH:C536892"^^xsd:string) AnnotationAssertion( "Acrocraniofacial dysostosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009001"^^xsd:string) AnnotationAssertion(rdfs:label "Kaplan Plauchu Fitch Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Thompson Baraitser Syndrome) AnnotationAssertion( "MESH:C536515"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009002"^^xsd:string) AnnotationAssertion(rdfs:label "Thompson Baraitser Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Erythropoietic Protoporphyria 2) AnnotationAssertion( "An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T16:52:35Z"^^xsd:string) AnnotationAssertion( "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA"^^xsd:string) AnnotationAssertion( "MIM:618015"^^xsd:string) AnnotationAssertion( "EPP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009003"^^xsd:string) AnnotationAssertion(rdfs:label "Erythropoietic Protoporphyria 2"^^xsd:string) SubClassOf( ) # Class: (Cree Mental Retardation Syndrome) AnnotationAssertion( "MIM:606851"^^xsd:string) AnnotationAssertion( "MESH:C564654"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009004"^^xsd:string) AnnotationAssertion(rdfs:label "Cree Mental Retardation Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Familial Thoracic Aortic Aneurysm 2) AnnotationAssertion( "MIM:607087"^^xsd:string) AnnotationAssertion( "MESH:C564627"^^xsd:string) AnnotationAssertion( "AAT2"^^xsd:string) AnnotationAssertion( "FAA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009005"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Thoracic Aortic Aneurysm 2"^^xsd:string) SubClassOf( ) # Class: (Mesomelic Dysplasia) AnnotationAssertion( "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-08T16:15:45Z"^^xsd:string) AnnotationAssertion( "MONDO:0023599"^^xsd:string) AnnotationAssertion( "mesomelic dwarf"^^xsd:string) AnnotationAssertion( "mesomelic dwarfism"^^xsd:string) AnnotationAssertion( "mesomelic dysplasias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009006"^^xsd:string) AnnotationAssertion(rdfs:label "Mesomelic Dysplasia"^^xsd:string) SubClassOf( ) # Class: (Tooth Abnormalities) AnnotationAssertion(Annotation( "MESH:D014071"^^xsd:string) "Congenital absence of or defects in structures of the teeth."^^xsd:string) AnnotationAssertion( "RDO:0000709"^^xsd:string) AnnotationAssertion( "MESH:D014071"^^xsd:string) AnnotationAssertion( "Odontome"^^xsd:string) AnnotationAssertion( "Odontomes"^^xsd:string) AnnotationAssertion( "Teeth Abnormalities"^^xsd:string) AnnotationAssertion( "teeth abnormality"^^xsd:string) AnnotationAssertion( "tooth abnormality"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009007"^^xsd:string) AnnotationAssertion(rdfs:label "Tooth Abnormalities"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Temporomandibular Joint Dysfunction Syndrome) AnnotationAssertion(Annotation( "MESH:D013706"^^xsd:string) "A symptom complex consisting of pain, muscle tenderness, clicking in the joint, and limitation or alteration of mandibular movement. The symptoms are subjective and manifested primarily in the masticatory muscles rather than the temporomandibular joint itself. Etiologic factors are uncertain but include occlusal dysharmony and psychophysiologic factors."^^xsd:string) AnnotationAssertion( "MESH:D013706"^^xsd:string) AnnotationAssertion( "RDO:0006677"^^xsd:string) AnnotationAssertion( "Costen Syndrome"^^xsd:string) AnnotationAssertion( "Costen's Syndrome"^^xsd:string) AnnotationAssertion( "Costens Syndrome"^^xsd:string) AnnotationAssertion( "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint"^^xsd:string) AnnotationAssertion( "TMJ Syndrome"^^xsd:string) AnnotationAssertion( "Temporomandibular Joint Syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009008"^^xsd:string) AnnotationAssertion(rdfs:label "Temporomandibular Joint Dysfunction Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Posterior Exchondrosis of Pinna) AnnotationAssertion( "MIM:133500"^^xsd:string) AnnotationAssertion( "MESH:C565036"^^xsd:string) AnnotationAssertion( "Ear Bump"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009009"^^xsd:string) AnnotationAssertion(rdfs:label "Posterior Exchondrosis of Pinna"^^xsd:string) SubClassOf( ) # Class: (Progressive Bifocal Chorioretinal Atrophy) AnnotationAssertion( "MIM:600790"^^xsd:string) AnnotationAssertion( "MESH:C535356"^^xsd:string) AnnotationAssertion( "CRAPB"^^xsd:string) AnnotationAssertion( "PBCRA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009010"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Bifocal Chorioretinal Atrophy"^^xsd:string) SubClassOf( ) # Class: (Cavitary Optic Disc Anomalies) AnnotationAssertion( "MIM:611543"^^xsd:string) AnnotationAssertion( "MESH:C566924"^^xsd:string) AnnotationAssertion( "RDO:0015134"^^xsd:string) AnnotationAssertion( "CODA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009011"^^xsd:string) AnnotationAssertion(rdfs:label "Cavitary Optic Disc Anomalies"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY) AnnotationAssertion(Annotation( "MIM:619072"^^xsd:string) "An autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-01-18T15:38:58Z"^^xsd:string) AnnotationAssertion( "MIM:619072"^^xsd:string) AnnotationAssertion( "NEDSEBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009012"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hyperkeratosis Lenticularis Perstans) AnnotationAssertion( "MIM:144150"^^xsd:string) AnnotationAssertion( "MESH:C538377"^^xsd:string) AnnotationAssertion( "RDO:0004353"^^xsd:string) AnnotationAssertion( "Flegel disease"^^xsd:string) AnnotationAssertion( "Flegel's disease"^^xsd:string) AnnotationAssertion( "HLP"^^xsd:string) AnnotationAssertion( "Hyperkeratosis lenticularis perstans of Flegel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009013"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperkeratosis Lenticularis Perstans"^^xsd:string) SubClassOf( ) # Class: (Retinal Dystrophy and Obesity) AnnotationAssertion( "MIM:616188"^^xsd:string) AnnotationAssertion( "RDOB"^^xsd:string) AnnotationAssertion( "TUB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009014"^^xsd:string) AnnotationAssertion(rdfs:label "Retinal Dystrophy and Obesity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Myoclonus 1) AnnotationAssertion( "MIM:614937"^^xsd:string) AnnotationAssertion( "FCM"^^xsd:string) AnnotationAssertion( "MYOCL1"^^xsd:string) AnnotationAssertion( "familial cortical myoclonus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009015"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Myoclonus 1"^^xsd:string) SubClassOf( ) # Class: (Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect) AnnotationAssertion( "MESH:C565517"^^xsd:string) AnnotationAssertion( "MIM:235750"^^xsd:string) AnnotationAssertion( "MONDO:0009343"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009016"^^xsd:string) AnnotationAssertion(rdfs:label "Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Amyotrophic Lateral Sclerosis, Autosomal Recessive) AnnotationAssertion( "MESH:C566290"^^xsd:string) AnnotationAssertion( "AMYOTROPHIC LATERAL SCLEROSIS, RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009017"^^xsd:string) AnnotationAssertion(rdfs:label "Amyotrophic Lateral Sclerosis, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Anencephaly 1) AnnotationAssertion( "Characterized by the absence of cranial vault and brain tissues in the fetus. Caused by homozygous mutation in the TRIM36 gene on chromosome 5q22. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-27T14:18:20Z"^^xsd:string) AnnotationAssertion( "MIM:206500"^^xsd:string) AnnotationAssertion( "ANPH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009020"^^xsd:string) AnnotationAssertion(rdfs:label "Anencephaly 1"^^xsd:string) SubClassOf( ) # Class: (Plagiocephaly) AnnotationAssertion(Annotation( "MESH:D059041"^^xsd:string) "The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY)."^^xsd:string) AnnotationAssertion( "MESH:D059041"^^xsd:string) AnnotationAssertion( "RDO:0005292"^^xsd:string) AnnotationAssertion( "Plagiocephalies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009021"^^xsd:string) AnnotationAssertion(rdfs:label "Plagiocephaly"^^xsd:string) SubClassOf( ) # Class: (Vogt Cephalodactyly) AnnotationAssertion( "MESH:C566327"^^xsd:string) AnnotationAssertion( "RDO:0014712"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009022"^^xsd:string) AnnotationAssertion(rdfs:label "Vogt Cephalodactyly"^^xsd:string) SubClassOf( ) # Class: (Aortic Remodeling) AnnotationAssertion( "The active alterations of aortic wall structure."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-06-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009023"^^xsd:string) AnnotationAssertion(rdfs:label "Aortic Remodeling"^^xsd:string) SubClassOf( ) # Class: (Primary Angiitis of the Central Nervous System) AnnotationAssertion( "A rare, idiopathic form of central nervous system vasculitis that may result in stenosis, blockage, and destruction of blood vessels resulting in aneurysms, ischemia, or hemmorrhage. (MESH)"^^xsd:string) AnnotationAssertion( "MESH:C535276"^^xsd:string) AnnotationAssertion( "PACNS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009024"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Angiitis of the Central Nervous System"^^xsd:string) SubClassOf( ) # Class: (Renal Phosphate Wasting Disorders) AnnotationAssertion( "Increased urinary phosphate excretion that can result in hypophosphatemia and depletion of total body phosphorus stores. This can lead to abnormal skeletal growth and deformities."^^xsd:string) AnnotationAssertion( "RDO:9000050"^^xsd:string) AnnotationAssertion( "renal phosphate wasting"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009025"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Phosphate Wasting Disorders"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Lymphoproliferative Syndrome 3) AnnotationAssertion( "MIM:618261"^^xsd:string) AnnotationAssertion( "NCI:C168591"^^xsd:string) AnnotationAssertion( "CD70 deficiency"^^xsd:string) AnnotationAssertion( "LPFS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009027"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphoproliferative Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Ecchymosis) AnnotationAssertion(Annotation( "MESH:D004438"^^xsd:string) "Extravasation of blood into the skin, resulting in a nonelevated, rounded or irregular, blue or purplish patch, larger than a petechia."^^xsd:string) AnnotationAssertion( "MESH:D004438"^^xsd:string) AnnotationAssertion( "Ecchymoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009028"^^xsd:string) AnnotationAssertion(rdfs:label "Ecchymosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Intestinal Lipophagic Granulomatosis) AnnotationAssertion( "MESH:C531849"^^xsd:string) AnnotationAssertion( "RDO:0000241"^^xsd:string) AnnotationAssertion( "Secondary Non-tropical Sprue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009030"^^xsd:string) AnnotationAssertion(rdfs:label "Intestinal Lipophagic Granulomatosis"^^xsd:string) SubClassOf( ) # Class: (Porphyria Cutanea Tarda, Type I) AnnotationAssertion( "MIM:176090"^^xsd:string) AnnotationAssertion( "RDO:0015025"^^xsd:string) AnnotationAssertion( "MESH:C566768"^^xsd:string) AnnotationAssertion( "PCT, sporadic type"^^xsd:string) AnnotationAssertion( "PCT, type I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009031"^^xsd:string) AnnotationAssertion(rdfs:label "Porphyria Cutanea Tarda, Type I"^^xsd:string) SubClassOf( ) # Class: (Hairy Nose Tip) AnnotationAssertion( "MIM:139630"^^xsd:string) AnnotationAssertion( "MESH:C535619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009032"^^xsd:string) AnnotationAssertion(rdfs:label "Hairy Nose Tip"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Oroantral Fistula) AnnotationAssertion(Annotation( "MESH:D009957"^^xsd:string) "A fistula between the maxillary sinus and the oral cavity."^^xsd:string) AnnotationAssertion( "MESH:D009957"^^xsd:string) AnnotationAssertion( "Oroantral Fistulas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009034"^^xsd:string) AnnotationAssertion(rdfs:label "Oroantral Fistula"^^xsd:string) SubClassOf( ) # Class: (Mexican Cardiomelic Dysplasia) AnnotationAssertion( "MIM:249670"^^xsd:string) AnnotationAssertion( "MESH:C563087"^^xsd:string) AnnotationAssertion( "Mesoaxial Hexadactyly and Cardiac Malformation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009035"^^xsd:string) AnnotationAssertion(rdfs:label "Mexican Cardiomelic Dysplasia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Globulin Anomaly involving Beta (2A)-Globulin) AnnotationAssertion( "MIM:137900"^^xsd:string) AnnotationAssertion( "MESH:C564229"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009036"^^xsd:string) AnnotationAssertion(rdfs:label "Globulin Anomaly involving Beta (2A)-Globulin"^^xsd:string) SubClassOf( ) # Class: (Candidiasis, Familial, 4) AnnotationAssertion( "MIM:613108"^^xsd:string) AnnotationAssertion( "RDO:0003907"^^xsd:string) AnnotationAssertion( "MESH:C537979"^^xsd:string) AnnotationAssertion( "CANDF4"^^xsd:string) AnnotationAssertion( "Candidiasis, Familial, Type 4"^^xsd:string) AnnotationAssertion( "Familial chronic mucocutaneous candidiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009037"^^xsd:string) AnnotationAssertion(rdfs:label "Candidiasis, Familial, 4"^^xsd:string) SubClassOf( ) # Class: (Nevus Comedonicus) AnnotationAssertion( "A rare type of epidermal nevus with predilection for the face and neck area. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers. (OMIM)"^^xsd:string) AnnotationAssertion( "MIM:617025"^^xsd:string) AnnotationAssertion( "NC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009038"^^xsd:string) AnnotationAssertion(rdfs:label "Nevus Comedonicus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hyperemia) AnnotationAssertion(Annotation( "MESH:D006940"^^xsd:string) "The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)."^^xsd:string) AnnotationAssertion( "EFO:0003822"^^xsd:string) AnnotationAssertion( "MESH:D006940"^^xsd:string) AnnotationAssertion( "Active Hyperemia"^^xsd:string) AnnotationAssertion( "Arterial Hyperemia"^^xsd:string) AnnotationAssertion( "Hyperemias"^^xsd:string) AnnotationAssertion( "Passive Hyperemia"^^xsd:string) AnnotationAssertion( "Reactive Hyperemia"^^xsd:string) AnnotationAssertion( "Reactive Hyperemias"^^xsd:string) AnnotationAssertion( "Venous Congestion"^^xsd:string) AnnotationAssertion( "Venous Engorgement"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009039"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperemia"^^xsd:string) SubClassOf( ) # Class: (Woods Leversha Rogers Syndrome) AnnotationAssertion( "MIM:600546"^^xsd:string) AnnotationAssertion( "MESH:C536744"^^xsd:string) AnnotationAssertion( "intrauterine growth retardation with increased mitomycin C sensitivity"^^xsd:string) AnnotationAssertion( "severe intrauterine growth retardation with increased mitomycin C sensitivity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009040"^^xsd:string) AnnotationAssertion(rdfs:label "Woods Leversha Rogers Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Temporomandibular Ankylosis) AnnotationAssertion( "MESH:C536957"^^xsd:string) AnnotationAssertion( "Ankylosis of the temporomandibular joint (TMJ)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009041"^^xsd:string) AnnotationAssertion(rdfs:label "Temporomandibular Ankylosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Familial Leg Ulcers of Juvenile Onset) AnnotationAssertion( "MIM:150590"^^xsd:string) AnnotationAssertion( "MESH:C563632"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009042"^^xsd:string) AnnotationAssertion(rdfs:label "Familial Leg Ulcers of Juvenile Onset"^^xsd:string) SubClassOf( ) # Class: (Cole-Carpenter Syndrome 1) AnnotationAssertion( "A syndrome characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-02-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:112240"^^xsd:string) AnnotationAssertion( "CLCRP1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009043"^^xsd:string) AnnotationAssertion(rdfs:label "Cole-Carpenter Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 109) AnnotationAssertion(Annotation( "MIM:620282"^^xsd:string) "An autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Caused by homozygous mutation in the TNFRSF9 gene on chromosome 1p36."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-03-17T09:13:50Z"^^xsd:string) AnnotationAssertion( "MIM:620282"^^xsd:string) AnnotationAssertion( "MONDO:0859526"^^xsd:string) AnnotationAssertion( "IMD109"^^xsd:string) AnnotationAssertion( "immunodeficiency 109 with lymphoproliferation"^^xsd:string) AnnotationAssertion( "immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009044"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 109"^^xsd:string) SubClassOf( ) # Class: (Gardner Syndrome) AnnotationAssertion(Annotation( "MESH:D005736"^^xsd:string) "A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract."^^xsd:string) AnnotationAssertion( "MESH:D005736"^^xsd:string) AnnotationAssertion( "NCI:C6728"^^xsd:string) AnnotationAssertion( "GS"^^xsd:string) AnnotationAssertion( "Gardner syndromes"^^xsd:string) AnnotationAssertion( "Gardner's Syndromes"^^xsd:string) AnnotationAssertion( "Gardner's syndrome"^^xsd:string) AnnotationAssertion( "Gardners Syndrome"^^xsd:string) AnnotationAssertion( "POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009045"^^xsd:string) AnnotationAssertion(rdfs:label "Gardner Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Surgical Wound Dehiscence) AnnotationAssertion(Annotation( "MESH:D013529"^^xsd:string) "Pathologic process consisting of a partial or complete disruption of the layers of a surgical wound."^^xsd:string) AnnotationAssertion( "MESH:D013529"^^xsd:string) AnnotationAssertion( "RDO:0006650"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009046"^^xsd:string) AnnotationAssertion(rdfs:label "Surgical Wound Dehiscence"^^xsd:string) SubClassOf( ) # Class: (Laryngeal Cleft) AnnotationAssertion( "MESH:C537875"^^xsd:string) AnnotationAssertion( "RDO:0010075"^^xsd:string) AnnotationAssertion( "Anterior submucous laryngeal cleft"^^xsd:string) AnnotationAssertion( "Congenital laryngeal clefts"^^xsd:string) AnnotationAssertion( "Posterior laryngeal cleft (PLC)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009047"^^xsd:string) AnnotationAssertion(rdfs:label "Laryngeal Cleft"^^xsd:string) SubClassOf( ) # Class: (Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency) AnnotationAssertion( "MESH:C565977"^^xsd:string) AnnotationAssertion( "RDO:0014472"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009048"^^xsd:string) AnnotationAssertion(rdfs:label "Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency"^^xsd:string) SubClassOf( ) # Class: (Foot Ulcer) AnnotationAssertion( "Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy."^^xsd:string) AnnotationAssertion( "MESH:D016523"^^xsd:string) AnnotationAssertion( "Foot Ulcers"^^xsd:string) AnnotationAssertion( "Plantar Ulcer"^^xsd:string) AnnotationAssertion( "Plantar Ulcers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009049"^^xsd:string) AnnotationAssertion(rdfs:label "Foot Ulcer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Hypocalcemia) AnnotationAssertion( "Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-04T11:41:45Z"^^xsd:string) AnnotationAssertion( "MESH:D006996"^^xsd:string) AnnotationAssertion( "Hypocalcemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009050"^^xsd:string) AnnotationAssertion(rdfs:label "Hypocalcemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Atrioventricular Septal Defect 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-12T15:13:08Z"^^xsd:string) AnnotationAssertion( "MIM:606217"^^xsd:string) AnnotationAssertion( "AVSD2"^^xsd:string) AnnotationAssertion( "CRELD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "DOID:9009051"^^xsd:string) AnnotationAssertion(rdfs:label "Atrioventricular Septal Defect 2"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Colorectal Cancer 10) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-12T16:51:46Z"^^xsd:string) AnnotationAssertion( "MIM:612591"^^xsd:string) AnnotationAssertion( "CRCS10"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "COLORECTAL CANCER, SUSCEPTIBILITY TO, 10"^^xsd:string) AnnotationAssertion( "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q"^^xsd:string) AnnotationAssertion( "DOID:9009054"^^xsd:string) AnnotationAssertion(rdfs:label "Colorectal Cancer 10"^^xsd:string) SubClassOf( ) # Class: (Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia) AnnotationAssertion( "An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-12T17:05:58Z"^^xsd:string) AnnotationAssertion( "MTHFD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617780"^^xsd:string) AnnotationAssertion( "CIMAH"^^xsd:string) AnnotationAssertion( "methylenetetrahydrofolate dehydrogenase 1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009055"^^xsd:string) AnnotationAssertion(rdfs:label "Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Childhood Absence Epilepsy 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T17:14:54Z"^^xsd:string) AnnotationAssertion( "MIM:600131"^^xsd:string) AnnotationAssertion( "ECA1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "DOID:9009060"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Absence Epilepsy 1"^^xsd:string) SubClassOf( ) # Class: (Childhood Absence Epilepsy 2) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T17:21:22Z"^^xsd:string) AnnotationAssertion( "GABRG2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "ECA2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "DOID:9009061"^^xsd:string) AnnotationAssertion(rdfs:label "Childhood Absence Epilepsy 2"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-02-25T12:12:43Z"^^xsd:string) AnnotationAssertion( "MIM:618331"^^xsd:string) AnnotationAssertion( "PEERB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009062"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T17:54:41Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009063"^^xsd:string) AnnotationAssertion(rdfs:label "Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Fanconi Anemia Complementation Group W) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T18:06:42Z"^^xsd:string) AnnotationAssertion( "MIM:617784"^^xsd:string) AnnotationAssertion( "FANCW"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009064"^^xsd:string) AnnotationAssertion(rdfs:label "Fanconi Anemia Complementation Group W"^^xsd:string) SubClassOf( ) # Class: (Optic Atrophy 14) AnnotationAssertion(Annotation( "MIM:620550"^^xsd:string) "A disease characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Caused by heterozygous mutation in the MIEF1 gene on chromosome 22q13."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2023-10-30T09:39:48Z"^^xsd:string) AnnotationAssertion( "MIM:620550"^^xsd:string) AnnotationAssertion( "OPA14"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009065"^^xsd:string) AnnotationAssertion(rdfs:label "Optic Atrophy 14"^^xsd:string) SubClassOf( ) # Class: (Glucocorticoid Deficiency 5) AnnotationAssertion( "A disease that is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T18:36:10Z"^^xsd:string) AnnotationAssertion( "MIM:617825"^^xsd:string) AnnotationAssertion( "GCCD5"^^xsd:string) AnnotationAssertion( "TXNRD2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009066"^^xsd:string) AnnotationAssertion(rdfs:label "Glucocorticoid Deficiency 5"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Glycosylphosphatidylinositol Biosynthesis Defect 15) AnnotationAssertion( "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-15T18:47:11Z"^^xsd:string) AnnotationAssertion( "MIM:617810"^^xsd:string) AnnotationAssertion( "DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA"^^xsd:string) AnnotationAssertion( "GPAA1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GPIBD15"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009067"^^xsd:string) AnnotationAssertion(rdfs:label "Glycosylphosphatidylinositol Biosynthesis Defect 15"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Herpes Simplex Encephalitis 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-16T17:19:18Z"^^xsd:string) AnnotationAssertion( "MIM:610551"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1"^^xsd:string) AnnotationAssertion( "IIAE1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009070"^^xsd:string) AnnotationAssertion(rdfs:label "Herpes Simplex Encephalitis 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA) AnnotationAssertion( "A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-16T18:17:02Z"^^xsd:string) AnnotationAssertion( "MIM:617744"^^xsd:string) AnnotationAssertion( "MONDO:0060591"^^xsd:string) AnnotationAssertion( "IMDDHH"^^xsd:string) AnnotationAssertion( "NFE2L2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009072"^^xsd:string) AnnotationAssertion(rdfs:label "IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diaphragmatic Hernia) AnnotationAssertion( "Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-16T18:30:12Z"^^xsd:string) AnnotationAssertion( "EFO:0008561"^^xsd:string) AnnotationAssertion( "MESH:D006548"^^xsd:string) AnnotationAssertion( "Diaphragmatic Hernias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009073"^^xsd:string) AnnotationAssertion(rdfs:label "Diaphragmatic Hernia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME) AnnotationAssertion(Annotation( "MIM:620510"^^xsd:string) "This disease is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Affected individuals die within the first year of life."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2023-11-10T10:33:01Z"^^xsd:string) AnnotationAssertion( "MIM:620510"^^xsd:string) AnnotationAssertion( "XGIP"^^xsd:string) AnnotationAssertion( "XGIP SYNDROME"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009076"^^xsd:string) AnnotationAssertion(rdfs:label "XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620327"^^xsd:string) "This disease is a severe autosomal recessive disorder characterized by onset of symptoms in infancy. Patients present with respiratory failure and require intubation soon after birth. Patients who survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2023-06-20T08:57:09Z"^^xsd:string) AnnotationAssertion( "MIM:620327"^^xsd:string) AnnotationAssertion( "NDDRSB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009077"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Progressive Leukodystrophy, Early Childhood-Onset) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T15:45:06Z"^^xsd:string) AnnotationAssertion( "MIM:617762"^^xsd:string) AnnotationAssertion( "PLDECO"^^xsd:string) AnnotationAssertion( "early childhood-onset progressive leukodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009078"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Leukodystrophy, Early Childhood-Onset"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-04T11:08:45Z"^^xsd:string) AnnotationAssertion( "MIM:PS210900"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009080"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy) AnnotationAssertion( "An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)"^^xsd:string) AnnotationAssertion( "gthayman"^^xsd:string) AnnotationAssertion( "2019-03-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:251900"^^xsd:string) AnnotationAssertion( "MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009081"^^xsd:string) AnnotationAssertion(rdfs:label "Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Specific Granule Deficiency 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-26T08:38:35Z"^^xsd:string) AnnotationAssertion( "CEBPE-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:245480"^^xsd:string) AnnotationAssertion( "LACTOFERRIN-DEFICIENT NEUTROPHILS"^^xsd:string) AnnotationAssertion( "NEUTROPHIL LACTOFERRIN DEFICIENCY"^^xsd:string) AnnotationAssertion( "SGD1"^^xsd:string) AnnotationAssertion( "SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009082"^^xsd:string) AnnotationAssertion(rdfs:label "Specific Granule Deficiency 1"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-10-10T17:14:54Z"^^xsd:string) AnnotationAssertion( "EFO:0010562"^^xsd:string) AnnotationAssertion( "MIM:618572"^^xsd:string) AnnotationAssertion( "NEDCHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009083"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Bone Marrow Failure and Diabetes Mellitus Syndrome) AnnotationAssertion(Annotation( "MIM:620044"^^xsd:string) "An autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. Caused by homozygous mutation in the DUT gene on chromosome 15q15."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2022-11-14T15:34:23Z"^^xsd:string) AnnotationAssertion( "MIM:620044"^^xsd:string) AnnotationAssertion( "BMFDMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009085"^^xsd:string) AnnotationAssertion(rdfs:label "Bone Marrow Failure and Diabetes Mellitus Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:603387"^^xsd:string) AnnotationAssertion( "NCI:C202114"^^xsd:string) AnnotationAssertion( "MPPH1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009086"^^xsd:string) AnnotationAssertion(rdfs:label "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1"^^xsd:string) SubClassOf( ) # Class: (Hypoplastic Left Heart Syndrome 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T08:36:46Z"^^xsd:string) AnnotationAssertion( "MIM:241550"^^xsd:string) AnnotationAssertion( "HLHS1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009087"^^xsd:string) AnnotationAssertion(rdfs:label "Hypoplastic Left Heart Syndrome 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-21T13:45:56Z"^^xsd:string) AnnotationAssertion( "EFO:0003113"^^xsd:string) AnnotationAssertion( "MIM:PS221770"^^xsd:string) AnnotationAssertion( "MONDO:0009092"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009089"^^xsd:string) AnnotationAssertion(rdfs:label "Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME) AnnotationAssertion(Annotation( "OMIM:620789"^^xsd:string) "This disease is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-09T10:56:42Z"^^xsd:string) AnnotationAssertion( "OMIM:620789"^^xsd:string) AnnotationAssertion( "ACED"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009092"^^xsd:string) AnnotationAssertion(rdfs:label "APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Myopia 26, X-Linked, Female-Limited) AnnotationAssertion( "A disease characterized by female-limited, early-onset high myopia. The fundus of patients shows a tigroid appearance, and there is a temporal crescent of the optic nerve head. MYP26 is caused by mutation in the ARR3 gene on chromosome Xq13. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:16:52Z"^^xsd:string) AnnotationAssertion( "MIM:301010"^^xsd:string) AnnotationAssertion( "ARR3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MYP26"^^xsd:string) AnnotationAssertion( "X-linked female-limited myopia 26"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009093"^^xsd:string) AnnotationAssertion(rdfs:label "Myopia 26, X-Linked, Female-Limited"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Progressive Familial Heart Block Type I) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:23:34Z"^^xsd:string) AnnotationAssertion( "PFHB1"^^xsd:string) AnnotationAssertion( "PFHBI"^^xsd:string) AnnotationAssertion( "progressive familial heart block type 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009094"^^xsd:string) AnnotationAssertion(rdfs:label "Progressive Familial Heart Block Type I"^^xsd:string) SubClassOf( ) # Class: (Neuroblastoma 3) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:29:01Z"^^xsd:string) AnnotationAssertion( "MIM:613014"^^xsd:string) AnnotationAssertion( "ALK-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "NBLST3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NEUROBLASTOMA, SUSCEPTIBILITY TO, 3"^^xsd:string) AnnotationAssertion( "DOID:9009095"^^xsd:string) AnnotationAssertion(rdfs:label "Neuroblastoma 3"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter) AnnotationAssertion( "A neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Brain imaging shows decreased cortical white matter. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:32:31Z"^^xsd:string) AnnotationAssertion( "MIM:617807"^^xsd:string) AnnotationAssertion( "NDAGSCW"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009096"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:45:30Z"^^xsd:string) AnnotationAssertion( "EFO:0009644"^^xsd:string) AnnotationAssertion( "MIM:617802"^^xsd:string) AnnotationAssertion( "NDMSCA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009098"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE) AnnotationAssertion( "A neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-17T18:47:57Z"^^xsd:string) AnnotationAssertion( "MIM:617804"^^xsd:string) AnnotationAssertion( "NEDMIAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009099"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Renal Hypodysplasia/Aplasia 3) AnnotationAssertion( "An autosomal dominant disorder characterized by abnormal kidney development beginning in utero. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-18T12:18:57Z"^^xsd:string) AnnotationAssertion( "GREB1L-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0009137"^^xsd:string) AnnotationAssertion( "MIM:617805"^^xsd:string) AnnotationAssertion( "RHDA3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009100"^^xsd:string) AnnotationAssertion(rdfs:label "Renal Hypodysplasia/Aplasia 3"^^xsd:string) SubClassOf( ) # Class: (Retinitis Pigmentosa 80) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-01-18T12:26:45Z"^^xsd:string) AnnotationAssertion( "MIM:617781"^^xsd:string) AnnotationAssertion( "RETINAL CILIOPATHY DUE TO MUTATION IN THE RETINITIS PIGMENTOSA-1 GENE"^^xsd:string) AnnotationAssertion( "RP80"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009101"^^xsd:string) AnnotationAssertion(rdfs:label "Retinitis Pigmentosa 80"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY) AnnotationAssertion(Annotation( "MIM:620784"^^xsd:string) "This disease is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-05-24T12:55:25Z"^^xsd:string) AnnotationAssertion( "SNF8-ASSOCIATED DISEASE"^^xsd:string) AnnotationAssertion( "MIM:620784"^^xsd:string) AnnotationAssertion( "NEDOA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009104"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (HIV Encephalitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-06T12:47:20Z"^^xsd:string) AnnotationAssertion( "HIV-encephalitis"^^xsd:string) AnnotationAssertion( "HIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009105"^^xsd:string) AnnotationAssertion(rdfs:label "HIV Encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Acute Heart Injury) AnnotationAssertion( "Traumatic, chemical, stress, or inflammation-related damage to the heart."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-06T13:04:16Z"^^xsd:string) AnnotationAssertion( "ACI"^^xsd:string) AnnotationAssertion( "acute cardiac injury"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009106"^^xsd:string) AnnotationAssertion(rdfs:label "Acute Heart Injury"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Drug-Induced Enteropathy) AnnotationAssertion( "Injury of the small intestine caused by any of a variety of drugs involving lesions that may contribute to ulceration."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-06T15:37:02Z"^^xsd:string) AnnotationAssertion( "Medication-Induced Enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Drug-induced gastrointestinal disturbance"^^xsd:string) AnnotationAssertion( "DOID:9009107"^^xsd:string) AnnotationAssertion(rdfs:label "Drug-Induced Enteropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Congenital Amegakaryocytic Thrombocytopenia 2) AnnotationAssertion(Annotation( "MIM:620481"^^xsd:string) "An autosomal recessive disorder characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. Caused by homozygous mutation in the THPO gene on chromosome 3q27."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-09-01T10:00:55Z"^^xsd:string) AnnotationAssertion( "MIM:620481"^^xsd:string) AnnotationAssertion( "CAMT2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009110"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Amegakaryocytic Thrombocytopenia 2"^^xsd:string) SubClassOf( ) # Class: (Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-02-03T10:17:37Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009111"^^xsd:string) AnnotationAssertion(rdfs:label "Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-12-02T11:26:55Z"^^xsd:string) AnnotationAssertion( "EFO:0010664"^^xsd:string) AnnotationAssertion( "MIM:618674"^^xsd:string) AnnotationAssertion( "PFBMFT5"^^xsd:string) AnnotationAssertion( "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009112"^^xsd:string) AnnotationAssertion(rdfs:label "Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES) AnnotationAssertion(Annotation( "MIM:620852"^^xsd:string) "This disease is an autosomal recessive disorder characterized by poor overall growth apparent from infancy, global developmental delay with motor delay, and severely impaired intellectual development with poor or absent speech. Additional features include feeding difficulties, dysmorphic facies, variable congenital heart defects, and brain imaging abnormalities."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-11T16:46:26Z"^^xsd:string) AnnotationAssertion( "MIM:620852"^^xsd:string) AnnotationAssertion( "NEDHFDB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009113"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive) AnnotationAssertion( "An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-07T16:21:10Z"^^xsd:string) AnnotationAssertion( "MIM:617820"^^xsd:string) AnnotationAssertion( "NDHMSR"^^xsd:string) AnnotationAssertion( "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures"^^xsd:string) AnnotationAssertion( "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009115"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive"^^xsd:string) SubClassOf( ) # Class: (Urinary Bladder Neoplasm) AnnotationAssertion( "Tumors of the urinary bladder"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-02-23T11:49:06Z"^^xsd:string) AnnotationAssertion( "EFO:0000294"^^xsd:string) AnnotationAssertion( "Bladder Neoplasm"^^xsd:string) AnnotationAssertion( "Bladder Neoplasms"^^xsd:string) AnnotationAssertion( "Bladder Tumor"^^xsd:string) AnnotationAssertion( "Bladder Tumors"^^xsd:string) AnnotationAssertion( "Urinary Bladder Neoplasms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009116"^^xsd:string) AnnotationAssertion(rdfs:label "Urinary Bladder Neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary pulmonary hypertension 1) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-12T13:02:21Z"^^xsd:string) AnnotationAssertion( "BMPR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "BMPR2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "PULMONARY ARTERIAL HYPERTENSION"^^xsd:string) AnnotationAssertion( "MIM:178600"^^xsd:string) AnnotationAssertion( "NCI:C174219"^^xsd:string) AnnotationAssertion( "PAH"^^xsd:string) AnnotationAssertion( "PHT"^^xsd:string) AnnotationAssertion( "PPH1"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, 1"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension, 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "PPH1 with HHT"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED"^^xsd:string) AnnotationAssertion( "PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED"^^xsd:string) AnnotationAssertion( "Primary Pulmonary Hypertension 1, with Hereditary Hemorrhagic Telangiectasia"^^xsd:string) AnnotationAssertion( "DOID:9009117"^^xsd:string) AnnotationAssertion(rdfs:label "primary pulmonary hypertension 1"^^xsd:string) SubClassOf( ) # Class: (AMYLOIDOSIS, HEREDITARY SYSTEMIC 5) AnnotationAssertion(Annotation( "OMIM:620658"^^xsd:string) "This disease is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-09T10:49:43Z"^^xsd:string) AnnotationAssertion( "OMIM:620658"^^xsd:string) AnnotationAssertion( "AMYLD5"^^xsd:string) AnnotationAssertion( "hereditary systemic amyloidosis 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009119"^^xsd:string) AnnotationAssertion(rdfs:label "AMYLOIDOSIS, HEREDITARY SYSTEMIC 5"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (lung metastasis) AnnotationAssertion(Annotation( "ISBN-13:978-1455756438"^^xsd:string) Annotation( "https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=22&contentid=lungmetastasis"^^xsd:string) "Transfer of a neoplasm from its primary site to the lung. Because a lung metastasis develops from some underlying cancer elsewhere in the body, it is called a “secondary” malignancy"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-04-16T14:39:10Z"^^xsd:string) AnnotationAssertion( "PMID:26265454"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009121"^^xsd:string) AnnotationAssertion(rdfs:label "lung metastasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features) AnnotationAssertion(Annotation( "MIM:617865"^^xsd:string) "A neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-14T17:49:27Z"^^xsd:string) AnnotationAssertion( "ZSWIM6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617865"^^xsd:string) AnnotationAssertion( "NEDMAGA"^^xsd:string) AnnotationAssertion( "ZSWIM6 RELATED INTELLECTUAL DISABILITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009123"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features"^^xsd:string) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES) AnnotationAssertion( "An autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-14T17:57:15Z"^^xsd:string) AnnotationAssertion( "MIM:617864"^^xsd:string) AnnotationAssertion( "NEDSGA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009124"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1) AnnotationAssertion( "A syndrome featuring short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. (OMIM)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2018-03-15T15:56:24Z"^^xsd:string) AnnotationAssertion( "MIM:617877"^^xsd:string) AnnotationAssertion( "SSFSC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009129"^^xsd:string) AnnotationAssertion(rdfs:label "Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1"^^xsd:string) SubClassOf( ) # Class: (Immunodeficiency 83) AnnotationAssertion( "Characterized primarily by increased susceptibility to viral infections. Caused by homozygous, compound heterozygous, or heterozygous mutation in the TLR3 gene on chromosome 4q35. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-07-16T15:21:19Z"^^xsd:string) AnnotationAssertion( "MIM:613002"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "IIAE2"^^xsd:string) AnnotationAssertion( "IMD83"^^xsd:string) AnnotationAssertion( "Immunodeficiency 83, susceptibility to viral infections"^^xsd:string) AnnotationAssertion( "PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009130"^^xsd:string) AnnotationAssertion(rdfs:label "Immunodeficiency 83"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ventriculomegaly) AnnotationAssertion( "This disease involves dilatation of the ventricles of the brain."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-03-29T11:05:53Z"^^xsd:string) AnnotationAssertion( "dilated ventricles"^^xsd:string) AnnotationAssertion( "enlarged cerebral ventricles"^^xsd:string) AnnotationAssertion( "enlarged ventricles"^^xsd:string) AnnotationAssertion( "enlarged ventricular system"^^xsd:string) AnnotationAssertion( "PROGRESSIVE VENTRICULOMEGALY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009131"^^xsd:string) AnnotationAssertion(rdfs:label "Ventriculomegaly"^^xsd:string) SubClassOf( ) # Class: (Glutaric Aciduria) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-09T13:55:38Z"^^xsd:string) AnnotationAssertion( "glutaric acidemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009132"^^xsd:string) AnnotationAssertion(rdfs:label "Glutaric Aciduria"^^xsd:string) SubClassOf( ) # Class: (ACANTHOCYTOSIS) AnnotationAssertion( "A condition featuring the presence of a thorny or barbed appearance to red blood cells."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-10T18:05:53Z"^^xsd:string) AnnotationAssertion( "ACANTHOCYTOSIS DUE TO BAND 3 HT"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009133"^^xsd:string) AnnotationAssertion(rdfs:label "ACANTHOCYTOSIS"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Citrullinemia Type 2) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-12T17:42:13Z"^^xsd:string) AnnotationAssertion( "NCI:C150603"^^xsd:string) AnnotationAssertion( "Citrullinemia Type II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009138"^^xsd:string) AnnotationAssertion(rdfs:label "Citrullinemia Type 2"^^xsd:string) SubClassOf( ) # Class: (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome) AnnotationAssertion( "An adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-13T18:23:43Z"^^xsd:string) AnnotationAssertion( "MIM:614575"^^xsd:string) AnnotationAssertion( "NCI:C202046"^^xsd:string) AnnotationAssertion( "CANVAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009139"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Heart Defects, Multiple Types, 5) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-16T11:30:54Z"^^xsd:string) AnnotationAssertion( "MIM:617912"^^xsd:string) AnnotationAssertion( "CHTD5"^^xsd:string) AnnotationAssertion( "GATA5-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "multiple types of congenital heart defects 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009140"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Heart Defects, Multiple Types, 5"^^xsd:string) SubClassOf( ) # Class: (Joubert Syndrome 36) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-02-05T15:38:57Z"^^xsd:string) AnnotationAssertion( "MIM:618763"^^xsd:string) AnnotationAssertion( "JBTS36"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009141"^^xsd:string) AnnotationAssertion(rdfs:label "Joubert Syndrome 36"^^xsd:string) SubClassOf( ) # Class: (Diamond-Blackfan Anemia-Like) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-17T17:30:14Z"^^xsd:string) AnnotationAssertion( "MIM:617911"^^xsd:string) AnnotationAssertion( "DBAL"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009142"^^xsd:string) AnnotationAssertion(rdfs:label "Diamond-Blackfan Anemia-Like"^^xsd:string) SubClassOf( ) # Class: (ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-17T18:38:55Z"^^xsd:string) AnnotationAssertion( "MIM:617900"^^xsd:string) AnnotationAssertion( "IIAE8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8"^^xsd:string) AnnotationAssertion( "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6"^^xsd:string) AnnotationAssertion( "DOID:9009143"^^xsd:string) AnnotationAssertion(rdfs:label "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8"^^xsd:string) SubClassOf( ) # Class: (Mismatch Repair Cancer Syndrome 3) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2020-11-30T11:38:09Z"^^xsd:string) AnnotationAssertion( "MIM:619097"^^xsd:string) AnnotationAssertion( "MMRCS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009145"^^xsd:string) AnnotationAssertion(rdfs:label "Mismatch Repair Cancer Syndrome 3"^^xsd:string) SubClassOf( ) # Class: (Urogenital Diseases) AnnotationAssertion( "Pathological processes of the urinary tract and the reproductive system."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-18T14:46:07Z"^^xsd:string) AnnotationAssertion( "EFO:0009663"^^xsd:string) AnnotationAssertion( "disease of genitourinary system"^^xsd:string) AnnotationAssertion( "disease of the genitourinary system"^^xsd:string) AnnotationAssertion( "urogenital disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009146"^^xsd:string) AnnotationAssertion(rdfs:label "Urogenital Diseases"^^xsd:string) SubClassOf( ) # Class: (HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-19T16:41:16Z"^^xsd:string) AnnotationAssertion( "MIM:617915"^^xsd:string) AnnotationAssertion( "NCI:C192635"^^xsd:string) AnnotationAssertion( "HADDTS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009147"^^xsd:string) AnnotationAssertion(rdfs:label "HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hypertrophic Cardiomyopathy 29) AnnotationAssertion(Annotation( "MIM:620236"^^xsd:string) "A disease characterized by recurrent syncope, dyspnea on exertion, and palpitations. Caused by homozygous mutation in the KLHL24 gene on chromosome 3q27."^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-02-02T09:38:28Z"^^xsd:string) AnnotationAssertion( "MIM:620236"^^xsd:string) AnnotationAssertion( "CMH29"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 29, with polyglucosan bodies"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009148"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophic Cardiomyopathy 29"^^xsd:string) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 20) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-23T17:05:40Z"^^xsd:string) AnnotationAssertion( "KIF14-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:617914"^^xsd:string) AnnotationAssertion( "MCPH20"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009149"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 20"^^xsd:string) SubClassOf( ) # Class: (Spastic paraplegia 30, autosomal dominant) AnnotationAssertion(Annotation( "MIM:610357"^^xsd:string) "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Caused by heterozygous mutation in the KIF1A gene on chromosome 2q37."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T16:50:04Z"^^xsd:string) AnnotationAssertion( "MIM:610357"^^xsd:string) AnnotationAssertion( "SPG30A"^^xsd:string) AnnotationAssertion( "Spastic paraplegia 30A, autosomal dominant"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009150"^^xsd:string) AnnotationAssertion(rdfs:label "Spastic paraplegia 30, autosomal dominant"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Neurodegeneration with Brain Iron Accumulation 7) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-23T18:12:11Z"^^xsd:string) AnnotationAssertion( "MIM:617916"^^xsd:string) AnnotationAssertion( "NBIA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009152"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodegeneration with Brain Iron Accumulation 7"^^xsd:string) SubClassOf( ) # Class: (Neurodegeneration with Brain Iron Accumulation 8) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-23T18:14:15Z"^^xsd:string) AnnotationAssertion( "MIM:617917"^^xsd:string) AnnotationAssertion( "NBIA8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009153"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodegeneration with Brain Iron Accumulation 8"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills) AnnotationAssertion( "An autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-23T18:17:31Z"^^xsd:string) AnnotationAssertion( "MIM:617903"^^xsd:string) AnnotationAssertion( "NDPLHS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009154"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shoulder Dystocia) AnnotationAssertion(Annotation( "MESH:D000080883"^^xsd:string) "Obstetric complication during OBSTETRIC DELIVERY in which exit of the fetus is delayed due to physical obstruction involving fetal shoulder(s)."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2020-02-07T13:13:52Z"^^xsd:string) AnnotationAssertion( "MESH:D000080883"^^xsd:string) AnnotationAssertion( "Fetal Shoulder Dystocia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009155"^^xsd:string) AnnotationAssertion(rdfs:label "Shoulder Dystocia"^^xsd:string) SubClassOf( ) # Class: (Lymphatic Malformation 9) AnnotationAssertion( "An autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Caused by heterozygous mutation in the CELSR1 gene on chromosome 22q13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-17T14:12:11Z"^^xsd:string) AnnotationAssertion( "MIM:619319"^^xsd:string) AnnotationAssertion( "CELSR1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "LMPHM9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009156"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphatic Malformation 9"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Audiogenic Epilepsy) AnnotationAssertion( "A subtype of epilepsy characterized by seizures that are consistently provoked by an auditory stimulus."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-12-05T16:33:08Z"^^xsd:string) AnnotationAssertion( "AGS"^^xsd:string) AnnotationAssertion( "Audiogenic Reflex Epilepsy"^^xsd:string) AnnotationAssertion( "Audiogenic Seizure"^^xsd:string) AnnotationAssertion( "audiogenic epilepsies"^^xsd:string) AnnotationAssertion( "audiogenic reflex epilepsies"^^xsd:string) AnnotationAssertion( "audiogenic seizures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009159"^^xsd:string) AnnotationAssertion(rdfs:label "Audiogenic Epilepsy"^^xsd:string) SubClassOf( ) # Class: (SCHIZOPHRENIA 17) AnnotationAssertion( "A schizophrenia that has_material_basis_in a mutation of NRXN1 on chromosome 2p16.3."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-25T14:47:52Z"^^xsd:string) AnnotationAssertion( "NRXN1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:614332"^^xsd:string) AnnotationAssertion( "SCZD17"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009160"^^xsd:string) AnnotationAssertion(rdfs:label "SCHIZOPHRENIA 17"^^xsd:string) SubClassOf( ) # Class: (Attention Deficit and Disruptive Behavior Disorders) AnnotationAssertion( "Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-04-25T18:10:11Z"^^xsd:string) AnnotationAssertion( "DOID:0050856"^^xsd:string) AnnotationAssertion( "MESH:D019958"^^xsd:string) AnnotationAssertion( "Disruptive Behavior Disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009161"^^xsd:string) AnnotationAssertion(rdfs:label "Attention Deficit and Disruptive Behavior Disorders"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (MHC CLASS I DEFICIENCY 3) AnnotationAssertion( "This disease is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens."^^xsd:string) AnnotationAssertion( "slaulederkind"^^xsd:string) AnnotationAssertion( "2024-07-11T16:37:25Z"^^xsd:string) AnnotationAssertion( "OMIM:620814"^^xsd:string) AnnotationAssertion( "MHC1D3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009162"^^xsd:string) AnnotationAssertion(rdfs:label "MHC CLASS I DEFICIENCY 3"^^xsd:string) SubClassOf( ) # Class: (ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION) AnnotationAssertion(Annotation( "MIM:270500"^^xsd:string) "This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-05-08T11:25:26Z"^^xsd:string) AnnotationAssertion( "MIM:270500"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009163"^^xsd:string) AnnotationAssertion(rdfs:label "ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Hereditary Congenital Facial Paresis 1) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-27T10:00:19Z"^^xsd:string) AnnotationAssertion( "MIM:601471"^^xsd:string) AnnotationAssertion( "HCFP1"^^xsd:string) AnnotationAssertion( "MBS2"^^xsd:string) AnnotationAssertion( "MOBIUS SYNDROME 2"^^xsd:string) AnnotationAssertion( "MOEBIUS SYNDROME 2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009164"^^xsd:string) AnnotationAssertion(rdfs:label "Hereditary Congenital Facial Paresis 1"^^xsd:string) SubClassOf( ) # Class: (Multiple mitochondrial dysfunctions syndrome 9B) AnnotationAssertion(Annotation( "MIM:620887"^^xsd:string) "A disease characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures. Caused by homozygous or compound heterozygous mutation in the FDXR gene, which encodes ferredoxin reductase, on chromosome 17q25."^^xsd:string) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-07-17T18:32:30Z"^^xsd:string) AnnotationAssertion( "MIM:620887"^^xsd:string) AnnotationAssertion( "MMDS9B"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009165"^^xsd:string) AnnotationAssertion(rdfs:label "Multiple mitochondrial dysfunctions syndrome 9B"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA) AnnotationAssertion(Annotation( "MIM:618451"^^xsd:string) "An autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-16T11:25:38Z"^^xsd:string) AnnotationAssertion( "MIM:618451"^^xsd:string) AnnotationAssertion( "NDCAMA"^^xsd:string) AnnotationAssertion( "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009167"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Shwachman-Diamond Syndrome 2) AnnotationAssertion( "A disease characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-01T10:52:22Z"^^xsd:string) AnnotationAssertion( "MIM:617941"^^xsd:string) AnnotationAssertion( "MONDO:0044205"^^xsd:string) AnnotationAssertion( "SDS2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009168"^^xsd:string) AnnotationAssertion(rdfs:label "Shwachman-Diamond Syndrome 2"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T12:54:58Z"^^xsd:string) AnnotationAssertion( "MIM:616763"^^xsd:string) AnnotationAssertion( "LDAMD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009169"^^xsd:string) AnnotationAssertion(rdfs:label "LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Autosomal Recessive Microcephaly 21) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T13:23:01Z"^^xsd:string) AnnotationAssertion( "MIM:617983"^^xsd:string) AnnotationAssertion( "MCPH21"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009171"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 21"^^xsd:string) SubClassOf( ) # Class: (Primary Autosomal Recessive Microcephaly 22) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T13:25:50Z"^^xsd:string) AnnotationAssertion( "MIM:617984"^^xsd:string) AnnotationAssertion( "MCPH22"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009172"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 22"^^xsd:string) SubClassOf( ) # Class: (Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T13:34:22Z"^^xsd:string) AnnotationAssertion( "MIM:617977"^^xsd:string) AnnotationAssertion( "Elhattab-Alkuraya syndrome"^^xsd:string) AnnotationAssertion( "NEDSBAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009173"^^xsd:string) AnnotationAssertion(rdfs:label "Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Visceral Myopathy 2) AnnotationAssertion( "Characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Caused by heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-28T13:36:33Z"^^xsd:string) AnnotationAssertion( "MIM:619350"^^xsd:string) AnnotationAssertion( "VSCM2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009175"^^xsd:string) AnnotationAssertion(rdfs:label "Visceral Myopathy 2"^^xsd:string) SubClassOf( ) # Class: (VERVERI-BRADY SYNDROME) AnnotationAssertion( "A disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-06-19T14:12:50Z"^^xsd:string) AnnotationAssertion( "MIM:617982"^^xsd:string) AnnotationAssertion( "VERBRAS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009176"^^xsd:string) AnnotationAssertion(rdfs:label "VERVERI-BRADY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED) AnnotationAssertion(Annotation( "MIM:301056"^^xsd:string) "An X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2021-03-15T13:39:06Z"^^xsd:string) AnnotationAssertion( "MIM:301056"^^xsd:string) AnnotationAssertion( "LINKED SYNDROME"^^xsd:string) AnnotationAssertion( "LINKage-specific deubiquitylation deficiency-induced Embryonic Defects"^^xsd:string) AnnotationAssertion( "MCAND"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009180"^^xsd:string) AnnotationAssertion(rdfs:label "MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Developmental Delay with or without Dysmorphic Facies and Autism) AnnotationAssertion(Annotation( "MIM:618454"^^xsd:string) "A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-09-10T17:50:29Z"^^xsd:string) AnnotationAssertion( "TRRAP-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TRRAP-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "MIM:618454"^^xsd:string) AnnotationAssertion( "DEDDFA"^^xsd:string) AnnotationAssertion( "TRRAP-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009182"^^xsd:string) AnnotationAssertion(rdfs:label "Developmental Delay with or without Dysmorphic Facies and Autism"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Eosinophilic Myocarditis) AnnotationAssertion( "Inflammation in the heart muscle that is caused by the infiltration and destructive activity of a type of white blood cell, the eosinophil. (Wikipedia)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-24T18:07:46Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009184"^^xsd:string) AnnotationAssertion(rdfs:label "Eosinophilic Myocarditis"^^xsd:string) SubClassOf( ) # Class: (Lymphocytic Myocarditis) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-25T14:14:48Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009185"^^xsd:string) AnnotationAssertion(rdfs:label "Lymphocytic Myocarditis"^^xsd:string) SubClassOf( ) # Class: (Pancreatic Benign Neoplasm) AnnotationAssertion( "A benign neoplasm that is located in the pancreas."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-07-27T13:08:28Z"^^xsd:string) AnnotationAssertion( "benign neoplasm of pancreas"^^xsd:string) AnnotationAssertion( "benign tumor of pancreas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009186"^^xsd:string) AnnotationAssertion(rdfs:label "Pancreatic Benign Neoplasm"^^xsd:string) SubClassOf( ) # Class: (Aerodigestive Tract Squamous Cell Carcinoma) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-13T13:32:41Z"^^xsd:string) AnnotationAssertion( "EFO:1000058"^^xsd:string) AnnotationAssertion( "EFO:1000463"^^xsd:string) AnnotationAssertion( "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL"^^xsd:string) AnnotationAssertion( "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED"^^xsd:string) AnnotationAssertion( "Parotid Gland Squamous Cell Carcinoma"^^xsd:string) AnnotationAssertion( "nasopharyngeal squamous cell carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST"^^xsd:string) AnnotationAssertion( "DOID:9009187"^^xsd:string) AnnotationAssertion(rdfs:label "Aerodigestive Tract Squamous Cell Carcinoma"^^xsd:string) SubClassOf( ) # Class: (Hypertrophic Cardiomyopathy 27) AnnotationAssertion( "A severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-13T15:12:57Z"^^xsd:string) AnnotationAssertion( "MIM:618052"^^xsd:string) AnnotationAssertion( "ALPK3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27"^^xsd:string) AnnotationAssertion( "CMH27"^^xsd:string) AnnotationAssertion( "familial hypertrophic cardiomyopathy 27"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009188"^^xsd:string) AnnotationAssertion(rdfs:label "Hypertrophic Cardiomyopathy 27"^^xsd:string) SubClassOf( ) # Class: (Congenital Hydrocephalus 3, with Brain Anomalies) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-13T15:51:02Z"^^xsd:string) AnnotationAssertion( "MIM:617967"^^xsd:string) AnnotationAssertion( "HYC3"^^xsd:string) AnnotationAssertion( "HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009189"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Hydrocephalus 3, with Brain Anomalies"^^xsd:string) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-15T11:44:27Z"^^xsd:string) AnnotationAssertion( "MIM:618060"^^xsd:string) AnnotationAssertion( "IDDECA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009192"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Autosomal Dominant Intellectual Developmental Disorder 57) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-15T12:09:54Z"^^xsd:string) AnnotationAssertion( "MIM:618050"^^xsd:string) AnnotationAssertion( "MRD57"^^xsd:string) AnnotationAssertion( "TLK2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TLK2-RELATED NEURODEVELOPMENTAL DISORDER"^^xsd:string) AnnotationAssertion( "autosomal dominant mental retardation 57"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009194"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Intellectual Developmental Disorder 57"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Cerebellar Atrophy with Seizures and Variable Developmental Delay) AnnotationAssertion(Annotation( "MIM:618501"^^xsd:string) "An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-08-13T15:13:44Z"^^xsd:string) AnnotationAssertion( "MIM:618501"^^xsd:string) AnnotationAssertion( "CASVDD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009196"^^xsd:string) AnnotationAssertion(rdfs:label "Cerebellar Atrophy with Seizures and Variable Developmental Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alternating Hemiplegia of Childhood 1) AnnotationAssertion(Annotation( "MIM:104290"^^xsd:string) "Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. Alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (OMIM)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2019-03-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:104290"^^xsd:string) AnnotationAssertion( "AHC1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009197"^^xsd:string) AnnotationAssertion(rdfs:label "Alternating Hemiplegia of Childhood 1"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Postaxial Polydactyly, Type A7) AnnotationAssertion( "Postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal. (OMIM)"^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-16T10:10:06Z"^^xsd:string) AnnotationAssertion( "MIM:617642"^^xsd:string) AnnotationAssertion( "PAPA7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009200"^^xsd:string) AnnotationAssertion(rdfs:label "Postaxial Polydactyly, Type A7"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-17T13:45:07Z"^^xsd:string) AnnotationAssertion( "MIM:616682"^^xsd:string) AnnotationAssertion( "SSMS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009204"^^xsd:string) AnnotationAssertion(rdfs:label "SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Alcohol Myopathy) AnnotationAssertion(Annotation( "PMID:28988574"^^xsd:string) "Skeletal muscle dysfunction as a result of alcohol use disorder."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-08-17T17:55:47Z"^^xsd:string) AnnotationAssertion( "Alcoholic myopathic syndrome"^^xsd:string) AnnotationAssertion( "Alcoholic myositis"^^xsd:string) AnnotationAssertion( "alcoholic myopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009207"^^xsd:string) AnnotationAssertion(rdfs:label "Alcohol Myopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-12T15:17:46Z"^^xsd:string) AnnotationAssertion( "MIM:618089"^^xsd:string) AnnotationAssertion( "FBXO11-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "IDDFBA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009213"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-12T15:33:23Z"^^xsd:string) AnnotationAssertion( "BCL11B-RELATED BAFOPATHY"^^xsd:string) AnnotationAssertion( "BCL11B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618092"^^xsd:string) AnnotationAssertion( "IDDSFTA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009214"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2) AnnotationAssertion(Annotation( "MIM:618097"^^xsd:string) "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-12T15:56:20Z"^^xsd:string) AnnotationAssertion( "MIM:618097"^^xsd:string) AnnotationAssertion( "MGRISCE2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009217"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2"^^xsd:string) SubClassOf( ) # Class: (MIRAGE Syndrome) AnnotationAssertion(Annotation( "MIM:617053"^^xsd:string) "A form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-12T16:23:39Z"^^xsd:string) AnnotationAssertion( "MIM:617053"^^xsd:string) AnnotationAssertion( "NCI:C147530"^^xsd:string) AnnotationAssertion( "MIRAGE"^^xsd:string) AnnotationAssertion( "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009218"^^xsd:string) AnnotationAssertion(rdfs:label "MIRAGE Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Diabetic Embryopathy) AnnotationAssertion( "Pathophysiological condition(s) of the fetus in the uterus, as a result of maternal diabetes."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-12T16:57:42Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009219"^^xsd:string) AnnotationAssertion(rdfs:label "Diabetic Embryopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-13T09:39:53Z"^^xsd:string) AnnotationAssertion( "MIM:618056"^^xsd:string) AnnotationAssertion( "NEDCAS"^^xsd:string) AnnotationAssertion( "BRAT1-ASSOCIATED NEURODEGENERATIVE DISORDER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009220"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-13T09:48:48Z"^^xsd:string) AnnotationAssertion( "MIM:618090"^^xsd:string) AnnotationAssertion( "NEDEHCC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009221"^^xsd:string) AnnotationAssertion(rdfs:label "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Episodic Kinesigenic Dyskinesia) AnnotationAssertion( "tutajm"^^xsd:string) AnnotationAssertion( "2024-05-03T09:27:14Z"^^xsd:string) AnnotationAssertion( "MIM:PS128200"^^xsd:string) AnnotationAssertion( "MONDO:0044202"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009225"^^xsd:string) AnnotationAssertion(rdfs:label "Episodic Kinesigenic Dyskinesia"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2018-09-14T14:26:05Z"^^xsd:string) AnnotationAssertion( "CACNA1G-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618087"^^xsd:string) AnnotationAssertion( "SCA42ND"^^xsd:string) AnnotationAssertion( "early-onset severe spinocerebellar ataxia-42 with neurodevelopmental deficits"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009231"^^xsd:string) AnnotationAssertion(rdfs:label "Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits"^^xsd:string) SubClassOf( ) # Class: (Extraoral Halitosis due to Methanethiol Oxidase Deficiency) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T14:25:07Z"^^xsd:string) AnnotationAssertion( "MIM:618148"^^xsd:string) AnnotationAssertion( "EHMTO"^^xsd:string) AnnotationAssertion( "EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA"^^xsd:string) AnnotationAssertion( "METHANETHIOL OXIDASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "MTO DEFICIENCY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009235"^^xsd:string) AnnotationAssertion(rdfs:label "Extraoral Halitosis due to Methanethiol Oxidase Deficiency"^^xsd:string) SubClassOf( ) # Class: (INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-14T17:59:58Z"^^xsd:string) AnnotationAssertion( "EFO:0010258"^^xsd:string) AnnotationAssertion( "MIM:618213"^^xsd:string) AnnotationAssertion( "IBDIMDE"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009237"^^xsd:string) AnnotationAssertion(rdfs:label "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T10:23:04Z"^^xsd:string) AnnotationAssertion( "MIM:618147"^^xsd:string) AnnotationAssertion( "IDDHDF"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009238"^^xsd:string) AnnotationAssertion(rdfs:label "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay) AnnotationAssertion(Annotation( "MIM:618158"^^xsd:string) "This disease is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T10:29:42Z"^^xsd:string) AnnotationAssertion( "EFO:0010259"^^xsd:string) AnnotationAssertion( "MIM:618158"^^xsd:string) AnnotationAssertion( "IDDMSSD"^^xsd:string) AnnotationAssertion( "PAK1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "PAK1-RELATED NEURODEVELOPMENTAL DISORDERS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009239"^^xsd:string) AnnotationAssertion(rdfs:label "Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Isolated Growth Hormone Deficiency Type V) AnnotationAssertion(Annotation( "MIM:618160"^^xsd:string) "A disease characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T12:19:04Z"^^xsd:string) AnnotationAssertion( "MIM:618160"^^xsd:string) AnnotationAssertion( "CPHD7"^^xsd:string) AnnotationAssertion( "IGHD5"^^xsd:string) AnnotationAssertion( "combined or isolated pituitary hormone deficiency 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009240"^^xsd:string) AnnotationAssertion(rdfs:label "Isolated Growth Hormone Deficiency Type V"^^xsd:string) SubClassOf( ) # Class: (Liddle Syndrome 3) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T12:24:37Z"^^xsd:string) AnnotationAssertion( "MIM:618126"^^xsd:string) AnnotationAssertion( "LIDLS3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009241"^^xsd:string) AnnotationAssertion(rdfs:label "Liddle Syndrome 3"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (Primary Autosomal Recessive Microcephaly 24) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T12:37:17Z"^^xsd:string) AnnotationAssertion( "MIM:618179"^^xsd:string) AnnotationAssertion( "MCPH24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009243"^^xsd:string) AnnotationAssertion(rdfs:label "Primary Autosomal Recessive Microcephaly 24"^^xsd:string) SubClassOf( ) # Class: (Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome) AnnotationAssertion(Annotation( "MIM:618142"^^xsd:string) "An autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T12:51:12Z"^^xsd:string) AnnotationAssertion( "MIM:618142"^^xsd:string) AnnotationAssertion( "MFRG"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009244"^^xsd:string) AnnotationAssertion(rdfs:label "Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome 23) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T13:27:34Z"^^xsd:string) AnnotationAssertion( "SLC25A1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MIM:618197"^^xsd:string) AnnotationAssertion( "CMS23"^^xsd:string) AnnotationAssertion( "congenital myasthenic syndrome 23, presynaptic"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009245"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome 23"^^xsd:string) SubClassOf( ) # Class: (Congenital Myasthenic Syndrome 24) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T13:31:11Z"^^xsd:string) AnnotationAssertion( "MIM:618198"^^xsd:string) AnnotationAssertion( "CMS24"^^xsd:string) AnnotationAssertion( "MYO9A-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "presynaptic congenital myasthenic syndrome-24"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009246"^^xsd:string) AnnotationAssertion(rdfs:label "Congenital Myasthenic Syndrome 24"^^xsd:string) SubClassOf( ) # Class: (Oocyte Maturation Defect 5) AnnotationAssertion( "A disease characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-15T18:04:10Z"^^xsd:string) AnnotationAssertion( "MIM:617996"^^xsd:string) AnnotationAssertion( "OOMD5"^^xsd:string) AnnotationAssertion( "OZEMA5"^^xsd:string) AnnotationAssertion( "Oocyte/zygote/embryo maturation arrest 5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009251"^^xsd:string) AnnotationAssertion(rdfs:label "Oocyte Maturation Defect 5"^^xsd:string) SubClassOf( ) # Class: (Orthostatic Hypotension 2) AnnotationAssertion(Annotation( "MIM:618182"^^xsd:string) "An autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T10:47:10Z"^^xsd:string) AnnotationAssertion( "MIM:618182"^^xsd:string) AnnotationAssertion( "ORTHYP2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009252"^^xsd:string) AnnotationAssertion(rdfs:label "Orthostatic Hypotension 2"^^xsd:string) SubClassOf( ) # Class: (Autosomal Dominant Osteopetrosis 3) AnnotationAssertion(Annotation( "MIM:618107"^^xsd:string) "A disease characterized by phenotypic variability: some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T10:56:45Z"^^xsd:string) AnnotationAssertion( "MIM:618107"^^xsd:string) AnnotationAssertion( "OPTA3"^^xsd:string) AnnotationAssertion( "OSTEOPETROSIS, AUTOSOMAL DOMINANT 3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009253"^^xsd:string) AnnotationAssertion(rdfs:label "Autosomal Dominant Osteopetrosis 3"^^xsd:string) SubClassOf( ) # Class: (Monosomy 7 Myelodysplasia and Leukemia Syndrome) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2021-05-12T15:30:25Z"^^xsd:string) AnnotationAssertion( "MIM:PS252270"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009254"^^xsd:string) AnnotationAssertion(rdfs:label "Monosomy 7 Myelodysplasia and Leukemia Syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES) AnnotationAssertion(Annotation( "MIM:618019"^^xsd:string) "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies."^^xsd:string) AnnotationAssertion( "slaulede"^^xsd:string) AnnotationAssertion( "2019-01-16T15:13:39Z"^^xsd:string) AnnotationAssertion( "MIM:618019"^^xsd:string) AnnotationAssertion( "PHASK"^^xsd:string) AnnotationAssertion( "SKPHA"^^xsd:string) AnnotationAssertion( "rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly"^^xsd:string) AnnotationAssertion( "RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9009255"^^xsd:string) AnnotationAssertion(rdfs:label "PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (liver lymphoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4949"^^xsd:string) AnnotationAssertion( "Lymphoma of Liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:901"^^xsd:string) AnnotationAssertion(rdfs:label "liver lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (larynx carcinoma in situ) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/1934549/"^^xsd:string) "An in situ carcinoma that is located_in the larynx. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D02.0"^^xsd:string) AnnotationAssertion( "ICD9CM:231.0"^^xsd:string) AnnotationAssertion( "carcinoma in situ of larynx"^^xsd:string) AnnotationAssertion( "stage 0 carcinoma of the larynx"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9011"^^xsd:string) AnnotationAssertion(rdfs:label "larynx carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (esophageal leukoplakia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:530.83"^^xsd:string) AnnotationAssertion( "NCI:C3953"^^xsd:string) AnnotationAssertion( "RDO:9004493"^^xsd:string) AnnotationAssertion( "leukoplakia of esophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9021"^^xsd:string) AnnotationAssertion(rdfs:label "esophageal leukoplakia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intestine carcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancercenter.com/intestinal-cancer/symptoms/"^^xsd:string) "An in situ carcinoma that is located_in the intestine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D01.4"^^xsd:string) AnnotationAssertion( "ICD9CM:230.7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9024"^^xsd:string) AnnotationAssertion(rdfs:label "intestine carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gastrointestinal lymphoma) AnnotationAssertion( "NCI:C38162"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:903"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parotid gland cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Parotid_gland"^^xsd:string) "A salivary gland cancer that is located_in the parotid gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000460"^^xsd:string) AnnotationAssertion( "ICD10CM:C07"^^xsd:string) AnnotationAssertion( "ICD9CM:142.0"^^xsd:string) AnnotationAssertion( "NCI:C3525"^^xsd:string) AnnotationAssertion( "Cancer of the Parotid"^^xsd:string) AnnotationAssertion( "Parotid Cancer"^^xsd:string) AnnotationAssertion( "cancer of parotid"^^xsd:string) AnnotationAssertion( "cancer of parotid gland"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the parotid"^^xsd:string) AnnotationAssertion( "malignant tumor of parotid gland"^^xsd:string) AnnotationAssertion( "parotid cancers"^^xsd:string) AnnotationAssertion( "Parotid Gland Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9036"^^xsd:string) AnnotationAssertion(rdfs:label "parotid gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (polyp of corpus uteri) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009484"^^xsd:string) AnnotationAssertion( "EFO:1000237"^^xsd:string) AnnotationAssertion( "ICD10CM:N84.0"^^xsd:string) AnnotationAssertion( "ICD9CM:621.0"^^xsd:string) AnnotationAssertion( "NCI:C3662"^^xsd:string) AnnotationAssertion( "endometrial/uterine polyp"^^xsd:string) AnnotationAssertion( "polyp of endometrium"^^xsd:string) AnnotationAssertion( "polyp of the uterus"^^xsd:string) AnnotationAssertion( "uterus polyp"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9042"^^xsd:string) AnnotationAssertion(rdfs:label "polyp of corpus uteri"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine cervix leukoplakia) AnnotationAssertion(Annotation( "https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site"^^xsd:string) "A cervix disease that is characterized by the presence of a hyperkeratotic lesion. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:N88.0"^^xsd:string) AnnotationAssertion( "ICD9CM:622.2"^^xsd:string) AnnotationAssertion( "NCI:C3976"^^xsd:string) AnnotationAssertion( "leukoplakia of cervix"^^xsd:string) AnnotationAssertion( "leukoplakia of cervix uteri"^^xsd:string) AnnotationAssertion( "leukoplakia of the uterine cervix"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9043"^^xsd:string) AnnotationAssertion(rdfs:label "uterine cervix leukoplakia"^^xsd:string) SubClassOf( ) # Class: (Zellweger syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Zellweger_Syndrome"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm"^^xsd:string) Annotation( "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912"^^xsd:string) "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7917"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.510"^^xsd:string) AnnotationAssertion( "MESH:D015211"^^xsd:string) AnnotationAssertion( "NCI:C85239"^^xsd:string) AnnotationAssertion( "ORDO:912"^^xsd:string) AnnotationAssertion( "PBD, ZSS"^^xsd:string) AnnotationAssertion( "ZS"^^xsd:string) AnnotationAssertion( "ZWS"^^xsd:string) AnnotationAssertion( "Zellweger Disease"^^xsd:string) AnnotationAssertion( "Zellweger Like Syndrome"^^xsd:string) AnnotationAssertion( "Zellweger Spectrum"^^xsd:string) AnnotationAssertion( "Zellweger syndrome spectrum"^^xsd:string) AnnotationAssertion( "Zellweger's syndrome"^^xsd:string) AnnotationAssertion( "cerebro hepato renal syndrome"^^xsd:string) AnnotationAssertion( "cerebrohepatorenal syndrome"^^xsd:string) AnnotationAssertion( "congenital iron overload"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorders, Zellweger syndrome spectrum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:905"^^xsd:string) AnnotationAssertion(rdfs:label "Zellweger syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bladder carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/"^^xsd:string) "An in situ carcinoma that is located_in the bladder. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D09.0"^^xsd:string) AnnotationAssertion( "ICD9CM:233.7"^^xsd:string) AnnotationAssertion( "NCI:C3644"^^xsd:string) AnnotationAssertion( "RDO:9003589"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3644"^^xsd:string) "Flat CIS of the urinary bladder"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:269650008"^^xsd:string) "bladder Ca in situ"^^xsd:string) AnnotationAssertion( "carcinoma in situ of bladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9053"^^xsd:string) AnnotationAssertion(rdfs:label "bladder carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peroxisomal disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Peroxisomal_disorder"^^xsd:string) "An inherited metabolic disorder that involves peroxisome malfunction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0010956"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.5"^^xsd:string) AnnotationAssertion( "ICD9CM:277.86"^^xsd:string) AnnotationAssertion( "MESH:D018901"^^xsd:string) AnnotationAssertion( "NCI:C125593"^^xsd:string) AnnotationAssertion( "NCI:C85005"^^xsd:string) AnnotationAssertion( "NCI:C99251"^^xsd:string) AnnotationAssertion( "General Peroxisomal Dysfunction"^^xsd:string) AnnotationAssertion( "Multiple Peroxisomal Dysfunction"^^xsd:string) AnnotationAssertion( "Multiple Peroxisomal Dysfunctions"^^xsd:string) AnnotationAssertion( "Peroxisomal Disorder"^^xsd:string) AnnotationAssertion( "Peroxisomal Disorders"^^xsd:string) AnnotationAssertion( "Single Peroxisomal Dysfunction"^^xsd:string) AnnotationAssertion( "general peroxisomal dysfunctions"^^xsd:string) AnnotationAssertion( "single peroxisomal dysfunctions"^^xsd:string) AnnotationAssertion( "Adrenoleukodystrophy, Autosomal Neonatal Form"^^xsd:string) AnnotationAssertion( "Hyperpipecolatemia"^^xsd:string) AnnotationAssertion( "Hyperpipecolic Acidemia"^^xsd:string) AnnotationAssertion( "Hyperpipecolic Acidemias"^^xsd:string) AnnotationAssertion( "Neonatal Adrenoleukodystrophies"^^xsd:string) AnnotationAssertion( "Neonatal Adrenoleukodystrophy"^^xsd:string) AnnotationAssertion( "peroxisome biogenesis disorder, complementation group 7"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:906"^^xsd:string) AnnotationAssertion(rdfs:label "peroxisomal disease"^^xsd:string) SubClassOf( ) # Class: (pityriasis versicolor) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/"^^xsd:string) "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007439"^^xsd:string) AnnotationAssertion( "ICD10CM:B36.0"^^xsd:string) AnnotationAssertion( "ICD9CM:111.0"^^xsd:string) AnnotationAssertion( "MESH:D014010"^^xsd:string) AnnotationAssertion( "NCI:C112833"^^xsd:string) AnnotationAssertion( "NCI:C82981"^^xsd:string) AnnotationAssertion( "Tinea Versicolor"^^xsd:string) AnnotationAssertion( "infection by Pityrosporum furfur"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9060"^^xsd:string) AnnotationAssertion(rdfs:label "pityriasis versicolor"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Ritter's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ritter%27s_disease"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin"^^xsd:string) "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007473"^^xsd:string) AnnotationAssertion( "ICD10CM:L00"^^xsd:string) AnnotationAssertion( "ICD9CM:695.81"^^xsd:string) AnnotationAssertion( "MESH:D013206"^^xsd:string) AnnotationAssertion( "NCI:C85077"^^xsd:string) AnnotationAssertion( "Pemphigus neonatorum"^^xsd:string) AnnotationAssertion( "Ritter Disease"^^xsd:string) AnnotationAssertion( "Ritters Disease"^^xsd:string) AnnotationAssertion( "Staphylococcal Scalded Skin Syndrome"^^xsd:string) AnnotationAssertion( "Staphylococcal Scalded-Skin Syndromes"^^xsd:string) AnnotationAssertion( "dermatitis exfoliativa neonatorum"^^xsd:string) AnnotationAssertion( "scalded skin syndrome"^^xsd:string) AnnotationAssertion( "toxic epidermal necrolysis, subcorneal type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9063"^^xsd:string) AnnotationAssertion(rdfs:label "Ritter's disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (leishmaniasis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005044"^^xsd:string) AnnotationAssertion( "GARD:6881"^^xsd:string) AnnotationAssertion( "ICD10CM:B55"^^xsd:string) AnnotationAssertion( "ICD9CM:085"^^xsd:string) AnnotationAssertion( "MESH:D007896"^^xsd:string) AnnotationAssertion( "NCI:C34767"^^xsd:string) AnnotationAssertion( "ORDO:507"^^xsd:string) AnnotationAssertion( "leishmaniases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "post-kala-azar dermal infectious disease by leishmaniasis"^^xsd:string) AnnotationAssertion( "post-kala-azar dermal leishmaniasis"^^xsd:string) AnnotationAssertion( "DOID:9065"^^xsd:string) AnnotationAssertion(rdfs:label "leishmaniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver fibroma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5752"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "fibroma of the liver"^^xsd:string) AnnotationAssertion( "DOID:907"^^xsd:string) AnnotationAssertion(rdfs:label "liver fibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lethal midline granuloma) AnnotationAssertion(Annotation( "MESH:D006103"^^xsd:string) "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS."^^xsd:string) AnnotationAssertion( "RDO:0005700"^^xsd:string) AnnotationAssertion( "EFO:1001013"^^xsd:string) AnnotationAssertion( "GARD:9622"^^xsd:string) AnnotationAssertion( "ICD10CM:M31.2"^^xsd:string) AnnotationAssertion( "ICD9CM:446.3"^^xsd:string) AnnotationAssertion( "MESH:D006103"^^xsd:string) AnnotationAssertion( "NCI:C8196"^^xsd:string) AnnotationAssertion( "Lethal Midline Granulomas"^^xsd:string) AnnotationAssertion( "Polymorphic Reticuloses"^^xsd:string) AnnotationAssertion( "granuloma gangraenescens"^^xsd:string) AnnotationAssertion( "malignant granuloma of face"^^xsd:string) AnnotationAssertion( "midfacial necrotising lesion"^^xsd:string) AnnotationAssertion( "polymorphic reticulosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9072"^^xsd:string) AnnotationAssertion(rdfs:label "lethal midline granuloma"^^xsd:string) SubClassOf( ) # Class: (systemic lupus erythematosus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus"^^xsd:string) "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. (DO)"^^xsd:string) AnnotationAssertion( "MIM:152700"^^xsd:string) AnnotationAssertion( "MIM:300809"^^xsd:string) AnnotationAssertion( "MIM:601744"^^xsd:string) AnnotationAssertion( "MIM:605218"^^xsd:string) AnnotationAssertion( "MIM:605480"^^xsd:string) AnnotationAssertion( "MIM:607279"^^xsd:string) AnnotationAssertion( "MIM:608437"^^xsd:string) AnnotationAssertion( "MIM:609903"^^xsd:string) AnnotationAssertion( "MIM:609939"^^xsd:string) AnnotationAssertion( "MIM:610065"^^xsd:string) AnnotationAssertion( "MIM:610066"^^xsd:string) AnnotationAssertion( "MIM:610927"^^xsd:string) AnnotationAssertion( "MIM:612251"^^xsd:string) AnnotationAssertion( "MIM:612253"^^xsd:string) AnnotationAssertion( "MIM:612254"^^xsd:string) AnnotationAssertion( "MIM:612378"^^xsd:string) AnnotationAssertion( "MIM:613145"^^xsd:string) AnnotationAssertion( "CR2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "STAT4-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0002690"^^xsd:string) AnnotationAssertion( "GARD:10253"^^xsd:string) AnnotationAssertion( "ICD10CM:M32.9"^^xsd:string) AnnotationAssertion( "ICD9CM:710.0"^^xsd:string) AnnotationAssertion( "MESH:D008180"^^xsd:string) AnnotationAssertion( "MONDO:0007915"^^xsd:string) AnnotationAssertion( "NCI:C3201"^^xsd:string) AnnotationAssertion( "ORDO:536"^^xsd:string) AnnotationAssertion( "Libman Sacks disease"^^xsd:string) AnnotationAssertion( "Lupus Erythematosus Disseminatus"^^xsd:string) AnnotationAssertion( "SLE"^^xsd:string) AnnotationAssertion( "SLE - systemic lupus erythematosus"^^xsd:string) AnnotationAssertion( "SLEH1"^^xsd:string) AnnotationAssertion( "disseminated lupus erythematosus"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, hemolytic anemia-related"^^xsd:string) AnnotationAssertion( "EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA"^^xsd:string) AnnotationAssertion( "excess LMW-DNA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SLEB1"^^xsd:string) AnnotationAssertion( "SLEB10"^^xsd:string) AnnotationAssertion( "SLEB11"^^xsd:string) AnnotationAssertion( "SLEB12"^^xsd:string) AnnotationAssertion( "SLEB13"^^xsd:string) AnnotationAssertion( "SLEB14"^^xsd:string) AnnotationAssertion( "SLEB15"^^xsd:string) AnnotationAssertion( "SLEB2"^^xsd:string) AnnotationAssertion( "SLEB3"^^xsd:string) AnnotationAssertion( "SLEB4"^^xsd:string) AnnotationAssertion( "SLEB5"^^xsd:string) AnnotationAssertion( "SLEB6"^^xsd:string) AnnotationAssertion( "SLEB7"^^xsd:string) AnnotationAssertion( "SLEB8"^^xsd:string) AnnotationAssertion( "SLEB9"^^xsd:string) AnnotationAssertion( "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH"^^xsd:string) AnnotationAssertion( "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2"^^xsd:string) AnnotationAssertion( "Systemic Lupus Erythematosus, Association With 2"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, association with susceptibility to, 10"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, resistance to, 1"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 10"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 13"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 14"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 15"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 4"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "systemic lupus erythematosus, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "DOID:9074"^^xsd:string) AnnotationAssertion(rdfs:label "systemic lupus erythematosus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (discoid lupus erythematosus of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.12"^^xsd:string) AnnotationAssertion( "ICD9CM:373.34"^^xsd:string) AnnotationAssertion( "RDO:9003502"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9076"^^xsd:string) AnnotationAssertion(rdfs:label "discoid lupus erythematosus of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (macroglobulinemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002616"^^xsd:string) AnnotationAssertion( "primary macroglobulinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9080"^^xsd:string) AnnotationAssertion(rdfs:label "macroglobulinemia"^^xsd:string) SubClassOf( ) # Class: (anal carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/"^^xsd:string) "An in situ carcinoma that is located_in the anus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:230.6"^^xsd:string) AnnotationAssertion( "NCI:C157575"^^xsd:string) AnnotationAssertion( "anal carcinoma stage 0"^^xsd:string) AnnotationAssertion( "anal intraepithelial neoplasia grade III"^^xsd:string) AnnotationAssertion( "carcinoma in situ of anal canal"^^xsd:string) AnnotationAssertion( "carcinoma in situ of anus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9087"^^xsd:string) AnnotationAssertion(rdfs:label "anal carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (parapsoriasis) AnnotationAssertion(Annotation( "MESH:D010267"^^xsd:string) "The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)."^^xsd:string) AnnotationAssertion( "EFO:1000747"^^xsd:string) AnnotationAssertion( "GARD:7328"^^xsd:string) AnnotationAssertion( "ICD10CM:L41"^^xsd:string) AnnotationAssertion( "ICD10CM:L41.9"^^xsd:string) AnnotationAssertion( "ICD9CM:696.2"^^xsd:string) AnnotationAssertion( "MESH:D010267"^^xsd:string) AnnotationAssertion( "NCI:C3312"^^xsd:string) AnnotationAssertion( "Digitate Dermatosis"^^xsd:string) AnnotationAssertion( "Maculopapular Erythroderma"^^xsd:string) AnnotationAssertion( "Maculopapular Erythrodermas"^^xsd:string) AnnotationAssertion( "Parakeratosis Variegata"^^xsd:string) AnnotationAssertion( "Parapsoriases"^^xsd:string) AnnotationAssertion( "Parapsoriasis en Plaque"^^xsd:string) AnnotationAssertion( "digitate dermatoses"^^xsd:string) AnnotationAssertion( "parapsoriasis en plaques"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9088"^^xsd:string) AnnotationAssertion(rdfs:label "parapsoriasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (REM sleep behavior disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder"^^xsd:string) "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007462"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.52"^^xsd:string) AnnotationAssertion( "ICD9CM:327.42"^^xsd:string) AnnotationAssertion( "MESH:D020187"^^xsd:string) AnnotationAssertion( "REM Behavior Disorder"^^xsd:string) AnnotationAssertion( "REM behavior disorders"^^xsd:string) AnnotationAssertion( "REM sleep behaviour disorder"^^xsd:string) AnnotationAssertion( "Rapid eye movement sleep behaviour disorder"^^xsd:string) AnnotationAssertion( "rapid eye movement sleep behavior disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9091"^^xsd:string) AnnotationAssertion(rdfs:label "REM sleep behavior disorder"^^xsd:string) SubClassOf( ) # Class: (esophagus carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6988210"^^xsd:string) "An in situ carcinoma that is located_in the esophagus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D00.1"^^xsd:string) AnnotationAssertion( "ICD9CM:230.1"^^xsd:string) AnnotationAssertion( "carcinoma in situ of esophagus"^^xsd:string) AnnotationAssertion( "carcinoma in situ of oesophagus"^^xsd:string) AnnotationAssertion( "oesophagus carcinoma in situ"^^xsd:string) AnnotationAssertion( "severe esophageal dysplasia"^^xsd:string) AnnotationAssertion( "stage 0 carcinoma of the esophagus"^^xsd:string) AnnotationAssertion( "stage 0 carcinoma of the oesophagus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9095"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (erythematosquamous dermatosis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000695"^^xsd:string) AnnotationAssertion( "ICD9CM:690"^^xsd:string) AnnotationAssertion( "NCI:C34591"^^xsd:string) AnnotationAssertion( "Other erythematosquamous dermatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9097"^^xsd:string) AnnotationAssertion(rdfs:label "erythematosquamous dermatosis"^^xsd:string) SubClassOf( ) # Class: (sebaceous gland disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/18837699"^^xsd:string) "A skin disease that is located_in the sebaceous gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000763"^^xsd:string) AnnotationAssertion( "ICD10CM:L70.8"^^xsd:string) AnnotationAssertion( "ICD9CM:706.1"^^xsd:string) AnnotationAssertion( "MESH:D012625"^^xsd:string) AnnotationAssertion( "sebaceous gland diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9098"^^xsd:string) AnnotationAssertion(rdfs:label "sebaceous gland disease"^^xsd:string) SubClassOf( ) # Class: (occipital lobe neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C71.4"^^xsd:string) AnnotationAssertion( "ICD9CM:191.4"^^xsd:string) AnnotationAssertion( "NCI:C5574"^^xsd:string) AnnotationAssertion( "malignant neoplasm of occipital lobe"^^xsd:string) AnnotationAssertion( "neoplasm of occipital lobe"^^xsd:string) AnnotationAssertion( "tumor of occipital lobe"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:910"^^xsd:string) AnnotationAssertion(rdfs:label "occipital lobe neoplasm"^^xsd:string) SubClassOf( ) # Class: (uterus carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/25423715"^^xsd:string) "An in situ carcinoma that is located_in the uterus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:233.2"^^xsd:string) AnnotationAssertion( "RDO:9003599"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9108"^^xsd:string) AnnotationAssertion(rdfs:label "uterus carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cutaneous leishmaniasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm"^^xsd:string) "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005046"^^xsd:string) AnnotationAssertion( "ICD10CM:B55.1"^^xsd:string) AnnotationAssertion( "MESH:D016773"^^xsd:string) AnnotationAssertion( "NCI:C34768"^^xsd:string) AnnotationAssertion( "American Leishmaniasis"^^xsd:string) AnnotationAssertion( "Asian desert cutaneous leishmaniasis"^^xsd:string) AnnotationAssertion( "Cutaneous Leishmaniases"^^xsd:string) AnnotationAssertion( "New World Leishmaniasis"^^xsd:string) AnnotationAssertion( "Old World Leishmaniasis"^^xsd:string) AnnotationAssertion( "Oriental Sore"^^xsd:string) AnnotationAssertion( "leproid leishmaniasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9111"^^xsd:string) AnnotationAssertion(rdfs:label "cutaneous leishmaniasis"^^xsd:string) SubClassOf( ) # Class: (granuloma inguinale) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Granuloma_inguinale"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007291"^^xsd:string) AnnotationAssertion( "GARD:9532"^^xsd:string) AnnotationAssertion( "ICD10CM:A58"^^xsd:string) AnnotationAssertion( "ICD9CM:099.2"^^xsd:string) AnnotationAssertion( "MESH:D006100"^^xsd:string) AnnotationAssertion( "NCI:C3065"^^xsd:string) AnnotationAssertion( "Donovanosis"^^xsd:string) AnnotationAssertion( "Granuloma Venereum"^^xsd:string) AnnotationAssertion( "pudendal ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9113"^^xsd:string) AnnotationAssertion(rdfs:label "granuloma inguinale"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (acute myeloid leukemia) AnnotationAssertion(Annotation( "http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Acute_myeloid_leukemia"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?cdrid=44363"^^xsd:string) Annotation( "https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html"^^xsd:string) "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)"^^xsd:string) AnnotationAssertion( "MIM:601626"^^xsd:string) AnnotationAssertion( "ETV6-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "EFO:0000222"^^xsd:string) AnnotationAssertion( "EFO:1001934"^^xsd:string) AnnotationAssertion( "GARD:12757"^^xsd:string) AnnotationAssertion( "ICD10CM:C92.0"^^xsd:string) AnnotationAssertion( "ICD9CM:205.0"^^xsd:string) AnnotationAssertion( "MESH:D015470"^^xsd:string) AnnotationAssertion( "NCI:C27753"^^xsd:string) AnnotationAssertion( "NCI:C3171"^^xsd:string) AnnotationAssertion( "AML"^^xsd:string) AnnotationAssertion( "AML - acute myeloid leukemia"^^xsd:string) AnnotationAssertion( "ANLL"^^xsd:string) AnnotationAssertion( "Acute Myelocytic Leukemia"^^xsd:string) AnnotationAssertion( "Acute Myelocytic Leukemias"^^xsd:string) AnnotationAssertion( "Acute Myelogenous Leukemia"^^xsd:string) AnnotationAssertion( "Acute Myelogenous Leukemias"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemias"^^xsd:string) AnnotationAssertion( "Acute Nonlymphoblastic Leukemia"^^xsd:string) AnnotationAssertion( "Acute Nonlymphoblastic Leukemias"^^xsd:string) AnnotationAssertion( "Acute Nonlymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukaemia"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukemia"^^xsd:string) AnnotationAssertion( "acute myeloblastic leukemias"^^xsd:string) AnnotationAssertion( "acute myelogenous leukaemia"^^xsd:string) AnnotationAssertion( "acute myeloid leukaemia"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M1"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, M2"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, m0 subtype"^^xsd:string) AnnotationAssertion( "acute nonlymphocytic leukemias"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia with Maturation"^^xsd:string) AnnotationAssertion( "Acute Myeloid Leukemia without Maturation"^^xsd:string) AnnotationAssertion( "Acute myeloid leukemia, somatic"^^xsd:string) AnnotationAssertion( "INHERITED ACUTE MYELOID LEUKEMIA"^^xsd:string) AnnotationAssertion( "adult acute myeloid leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, reduced survival in"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, reduced survival in, somatic"^^xsd:string) AnnotationAssertion( "acute myeloid leukemia, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9119"^^xsd:string) AnnotationAssertion(rdfs:label "acute myeloid leukemia"^^xsd:string) SubClassOf( ) # Class: (amyloidosis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Amyloidosis"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33100054/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/33787033/"^^xsd:string) Annotation( "https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true"^^xsd:string) "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001875"^^xsd:string) AnnotationAssertion( "ICD10CM:E85"^^xsd:string) AnnotationAssertion( "ICD9CM:277.3"^^xsd:string) AnnotationAssertion( "MESH:D000686"^^xsd:string) AnnotationAssertion( "NCI:C2868"^^xsd:string) AnnotationAssertion( "amyloid disease"^^xsd:string) AnnotationAssertion( "amyloidoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "SERUM AMYLOID A VARIANT"^^xsd:string) AnnotationAssertion( "DOID:9120"^^xsd:string) AnnotationAssertion(rdfs:label "amyloidosis"^^xsd:string) SubClassOf( ) # Class: (eczema herpeticum) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/"^^xsd:string) "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:B00.0"^^xsd:string) AnnotationAssertion( "ICD9CM:054.0"^^xsd:string) AnnotationAssertion( "ICD9CM:054.41"^^xsd:string) AnnotationAssertion( "MESH:D007617"^^xsd:string) AnnotationAssertion( "NCI:C35620"^^xsd:string) AnnotationAssertion( "Kaposi varicelliform eruption"^^xsd:string) AnnotationAssertion( "Kaposi's Varicelliform Eruption"^^xsd:string) AnnotationAssertion( "Kaposis Varicelliform Eruption"^^xsd:string) AnnotationAssertion( "eczema vaccinatum"^^xsd:string) AnnotationAssertion( "herpes simplex dermatitis"^^xsd:string) AnnotationAssertion( "herpes simplex dermatitis of eyelid"^^xsd:string) AnnotationAssertion( "herpes simplex eyelid dermatitis"^^xsd:string) AnnotationAssertion( "herpes simplex virus dermatitis"^^xsd:string) AnnotationAssertion( "herpes simplex virus eyelid dermatitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9123"^^xsd:string) AnnotationAssertion(rdfs:label "eczema herpeticum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lower gum cancer) AnnotationAssertion( "ICD10CM:C03.1"^^xsd:string) AnnotationAssertion( "ICD9CM:143.1"^^xsd:string) AnnotationAssertion( "malignant tumor of lower gingiva"^^xsd:string) AnnotationAssertion( "malignant tumour of lower gum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9125"^^xsd:string) AnnotationAssertion(rdfs:label "lower gum cancer"^^xsd:string) SubClassOf( ) # Class: (atrophic muscular disease) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574"^^xsd:string) "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009912"^^xsd:string) AnnotationAssertion( "MESH:D020966"^^xsd:string) AnnotationAssertion( "NCI:C84574"^^xsd:string) AnnotationAssertion( "atrophic muscular disorder"^^xsd:string) AnnotationAssertion( "atrophic muscular disorders"^^xsd:string) AnnotationAssertion( "disuse atrophies"^^xsd:string) AnnotationAssertion( "disuse atrophy"^^xsd:string) AnnotationAssertion( "spinobulbar atrophies"^^xsd:string) AnnotationAssertion( "spinobulbar atrophy"^^xsd:string) AnnotationAssertion( "spinopontine atrophies"^^xsd:string) AnnotationAssertion( "spinopontine atrophy"^^xsd:string) AnnotationAssertion( "distal lower limb amyotrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:913"^^xsd:string) AnnotationAssertion(rdfs:label "atrophic muscular disease"^^xsd:string) SubClassOf( ) # Class: (liver carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/1657755"^^xsd:string) "An in situ carcinoma that is located_in the liver. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D01.5"^^xsd:string) AnnotationAssertion( "ICD9CM:230.8"^^xsd:string) AnnotationAssertion( "carcinoma in situ of liver and biliary system"^^xsd:string) AnnotationAssertion( "carcinoma in situ of liver, gallbladder and bile ducts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9132"^^xsd:string) AnnotationAssertion(rdfs:label "liver carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stomach carcinoma in situ) AnnotationAssertion(Annotation( "https://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq"^^xsd:string) "An in situ carcinoma that is located_in the stomach. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D00.2"^^xsd:string) AnnotationAssertion( "ICD9CM:230.2"^^xsd:string) AnnotationAssertion( "carcinoma in situ of stomach"^^xsd:string) AnnotationAssertion( "gastric carcinoma in situ"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9138"^^xsd:string) AnnotationAssertion(rdfs:label "stomach carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peliosis hepatis) AnnotationAssertion(Annotation( "MESH:D010382"^^xsd:string) "A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs."^^xsd:string) AnnotationAssertion( "EFO:1001387"^^xsd:string) AnnotationAssertion( "ICD10CM:K76.4"^^xsd:string) AnnotationAssertion( "MESH:D010382"^^xsd:string) AnnotationAssertion( "hepatic peliosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:914"^^xsd:string) AnnotationAssertion(rdfs:label "peliosis hepatis"^^xsd:string) SubClassOf( ) # Class: (xeroderma of eyelid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.14"^^xsd:string) AnnotationAssertion( "ICD9CM:373.33"^^xsd:string) AnnotationAssertion( "RDO:9003505"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9140"^^xsd:string) AnnotationAssertion(rdfs:label "xeroderma of eyelid"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (visceral leishmaniasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Visceral_leishmaniasis"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm"^^xsd:string) "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. (DO)"^^xsd:string) AnnotationAssertion( "MIM:608207"^^xsd:string) AnnotationAssertion( "MIM:611381"^^xsd:string) AnnotationAssertion( "MIM:611382"^^xsd:string) AnnotationAssertion( "EFO:0005045"^^xsd:string) AnnotationAssertion( "ICD10CM:B55.0"^^xsd:string) AnnotationAssertion( "ICD9CM:085.0"^^xsd:string) AnnotationAssertion( "MESH:D007898"^^xsd:string) AnnotationAssertion( "MIM:PS608207"^^xsd:string) AnnotationAssertion( "NCI:C34771"^^xsd:string) AnnotationAssertion( "black fever"^^xsd:string) AnnotationAssertion( "infection by visceral leishmaniasis"^^xsd:string) AnnotationAssertion( "kala azar"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "KAZA1"^^xsd:string) AnnotationAssertion( "KAZA2"^^xsd:string) AnnotationAssertion( "KAZA3"^^xsd:string) AnnotationAssertion( "kala azar, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "kala azar, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "kala azar, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "visceral leishmaniasis, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "visceral leishmaniasis, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:9146"^^xsd:string) AnnotationAssertion(rdfs:label "visceral leishmaniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hard palate cancer) AnnotationAssertion( "ICD10CM:C05.0"^^xsd:string) AnnotationAssertion( "ICD9CM:145.2"^^xsd:string) AnnotationAssertion( "NCI:C3528"^^xsd:string) AnnotationAssertion( "malignant neoplasm of hard palate"^^xsd:string) AnnotationAssertion( "malignant tumor of hard palate"^^xsd:string) AnnotationAssertion( "malignant tumour of hard palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9149"^^xsd:string) AnnotationAssertion(rdfs:label "hard palate cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (variola minor) AnnotationAssertion(Annotation( "https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox"^^xsd:string) "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-11T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:050.1"^^xsd:string) AnnotationAssertion( "NCI:C34365"^^xsd:string) AnnotationAssertion( "alastrim"^^xsd:string) AnnotationAssertion( "cottonpox"^^xsd:string) AnnotationAssertion( "milkpox"^^xsd:string) AnnotationAssertion( "variola minors"^^xsd:string) AnnotationAssertion( "whitepox"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9153"^^xsd:string) AnnotationAssertion(rdfs:label "variola minor"^^xsd:string) SubClassOf( ) # Class: (mucocutaneous leishmaniasis) AnnotationAssertion(Annotation( "http://www.bmj.com/cgi/content/full/329/7470/842"^^xsd:string) "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. (DO)"^^xsd:string) AnnotationAssertion( "MIM:602068"^^xsd:string) AnnotationAssertion( "EFO:0007379"^^xsd:string) AnnotationAssertion( "ICD10CM:B55.2"^^xsd:string) AnnotationAssertion( "ICD9CM:085.5"^^xsd:string) AnnotationAssertion( "MESH:D007897"^^xsd:string) AnnotationAssertion( "Mucocutaneous Leishmaniases"^^xsd:string) AnnotationAssertion( "New World cutaneous leishmaniasis"^^xsd:string) AnnotationAssertion( "cutaneous leishmaniasis, American"^^xsd:string) AnnotationAssertion( "mucocutaneous leishmaniasis, American"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9155"^^xsd:string) AnnotationAssertion(rdfs:label "mucocutaneous leishmaniasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gas gangrene) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Gas_gangrene"^^xsd:string) Annotation( "http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157"^^xsd:string) "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007279"^^xsd:string) AnnotationAssertion( "ICD10CM:A48.0"^^xsd:string) AnnotationAssertion( "ICD9CM:040.0"^^xsd:string) AnnotationAssertion( "MESH:D005738"^^xsd:string) AnnotationAssertion( "gas bacillus infection"^^xsd:string) AnnotationAssertion( "gas gangrenes"^^xsd:string) AnnotationAssertion( "myonecrosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9159"^^xsd:string) AnnotationAssertion(rdfs:label "gas gangrene"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver benign neoplasm) AnnotationAssertion(Annotation( "MESH:D008113"^^xsd:string) "Tumors or cancer of the LIVER."^^xsd:string) AnnotationAssertion( "NCI:C7103"^^xsd:string) AnnotationAssertion( "NCI:C7106"^^xsd:string) AnnotationAssertion( "epithelial hepatic and intrahepatic bile duct neoplasm"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:916"^^xsd:string) AnnotationAssertion(rdfs:label "liver benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (achalasia) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm"^^xsd:string) "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K22.0"^^xsd:string) AnnotationAssertion( "ICD9CM:530.0"^^xsd:string) AnnotationAssertion( "MESH:D004931"^^xsd:string) AnnotationAssertion( "MONDO:0008698"^^xsd:string) AnnotationAssertion( "NCI:C84699"^^xsd:string) AnnotationAssertion( "achalasia of cardia"^^xsd:string) AnnotationAssertion( "achalasia of esophagus"^^xsd:string) AnnotationAssertion( "achalasias"^^xsd:string) AnnotationAssertion( "cardiospasm"^^xsd:string) AnnotationAssertion( "cardiospasms"^^xsd:string) AnnotationAssertion( "esophageal achalasia"^^xsd:string) AnnotationAssertion( "esophageal achalasias"^^xsd:string) AnnotationAssertion( "hypertensive lower esophageal sphincter"^^xsd:string) AnnotationAssertion( "lack of reflex relaxation of lower oesophageal sphincter"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "megaesophagus"^^xsd:string) AnnotationAssertion( "DOID:9164"^^xsd:string) AnnotationAssertion(rdfs:label "achalasia"^^xsd:string) SubClassOf( ) # Class: (neurotic excoriation) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000741"^^xsd:string) AnnotationAssertion( "ICD10CM:L98.1"^^xsd:string) AnnotationAssertion( "ICD9CM:698.4"^^xsd:string) AnnotationAssertion( "dermatitis artefacta"^^xsd:string) AnnotationAssertion( "dermatitis factitia"^^xsd:string) AnnotationAssertion( "dermatitis ficta"^^xsd:string) AnnotationAssertion( "factitious skin disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9165"^^xsd:string) AnnotationAssertion(rdfs:label "neurotic excoriation"^^xsd:string) SubClassOf( ) # Class: (Wiskott-Aldrich syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome"^^xsd:string) "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). (DO)"^^xsd:string) AnnotationAssertion( "MIM:301000"^^xsd:string) AnnotationAssertion( "EFO:0003903"^^xsd:string) AnnotationAssertion( "ICD10CM:D82.0"^^xsd:string) AnnotationAssertion( "ICD9CM:279.12"^^xsd:string) AnnotationAssertion( "MESH:D014923"^^xsd:string) AnnotationAssertion( "MONDO:0010518"^^xsd:string) AnnotationAssertion( "NCI:C3448"^^xsd:string) AnnotationAssertion( "Aldrich Syndrome"^^xsd:string) AnnotationAssertion( "IMD2"^^xsd:string) AnnotationAssertion( "WAS"^^xsd:string) AnnotationAssertion( "WAS1"^^xsd:string) AnnotationAssertion( "Wiskott Syndrome"^^xsd:string) AnnotationAssertion( "Wiskott-Aldrich syndrome 1"^^xsd:string) AnnotationAssertion( "eczema-thrombocytopenia-immunodeficiency syndrome"^^xsd:string) AnnotationAssertion( "eczema-thrombocytopenia-immunodeficiency syndromes"^^xsd:string) AnnotationAssertion( "immunodeficiency 2"^^xsd:string) AnnotationAssertion( "Wiskott-Aldrich syndrome, attenuated"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9169"^^xsd:string) AnnotationAssertion(rdfs:label "Wiskott-Aldrich syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (liver leiomyoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5753"^^xsd:string) AnnotationAssertion( "leiomyoma of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:917"^^xsd:string) AnnotationAssertion(rdfs:label "liver leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (submandibular gland cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000554"^^xsd:string) AnnotationAssertion( "EFO:1000555"^^xsd:string) AnnotationAssertion( "ICD10CM:C08.0"^^xsd:string) AnnotationAssertion( "ICD9CM:142.1"^^xsd:string) AnnotationAssertion( "NCI:C3526"^^xsd:string) AnnotationAssertion( "RDO:9004566"^^xsd:string) AnnotationAssertion( "malignant neoplasm of submaxillary gland"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:363380002"^^xsd:string) "malignant tumor of submandibular gland"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C3526"^^xsd:string) "malignant tumor of the Submandibular gland"^^xsd:string) AnnotationAssertion( "Submandibular Gland Adenocarcinoma"^^xsd:string) AnnotationAssertion( "Submandibular Gland Adenoid Cystic Carcinoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9173"^^xsd:string) AnnotationAssertion(rdfs:label "submandibular gland cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rectum carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/622667"^^xsd:string) "An in situ carcinoma that is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D01.2"^^xsd:string) AnnotationAssertion( "ICD9CM:230.4"^^xsd:string) AnnotationAssertion( "RDO:9003601"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C4853"^^xsd:string) "Severe Rectal Dysplasia"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:308879003"^^xsd:string) "Severe dysplasia of rectum"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:92696009"^^xsd:string) "carcinoma in situ of rectum"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9174"^^xsd:string) AnnotationAssertion(rdfs:label "rectum carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (liver inflammatory pseudotumor) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000324"^^xsd:string) AnnotationAssertion( "NCI:C5858"^^xsd:string) AnnotationAssertion( "Hepatic Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "Inflammatory Pseudotumor of Liver"^^xsd:string) AnnotationAssertion( "Liver Inflammatory Myofibroblastic Tumor"^^xsd:string) AnnotationAssertion( "inflammatory pseudotumor of the liver"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:918"^^xsd:string) AnnotationAssertion(rdfs:label "liver inflammatory pseudotumor"^^xsd:string) SubClassOf( ) # Class: (amebiasis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Amoebiasis"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007144"^^xsd:string) AnnotationAssertion( "GARD:652"^^xsd:string) AnnotationAssertion( "ICD10CM:A06"^^xsd:string) AnnotationAssertion( "ICD9CM:006"^^xsd:string) AnnotationAssertion( "MESH:D000562"^^xsd:string) AnnotationAssertion( "NCI:C157785"^^xsd:string) AnnotationAssertion( "NCI:C84551"^^xsd:string) AnnotationAssertion( "Amebic Abscess"^^xsd:string) AnnotationAssertion( "Ameboma"^^xsd:string) AnnotationAssertion( "Amebomas"^^xsd:string) AnnotationAssertion( "Iodamoebiases"^^xsd:string) AnnotationAssertion( "Iodamoebiasis"^^xsd:string) AnnotationAssertion( "amebiases"^^xsd:string) AnnotationAssertion( "amebic abscesses"^^xsd:string) AnnotationAssertion( "amoebiases"^^xsd:string) AnnotationAssertion( "amoebiasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "chronic intestinal amebiasis"^^xsd:string) AnnotationAssertion( "DOID:9181"^^xsd:string) AnnotationAssertion(rdfs:label "amebiasis"^^xsd:string) SubClassOf( ) # Class: (pemphigus) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Pemphigus"^^xsd:string) Annotation( "https://medlineplus.gov/pemphigus.html"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/pemphigus/"^^xsd:string) "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008605"^^xsd:string) AnnotationAssertion( "EFO:0008607"^^xsd:string) AnnotationAssertion( "EFO:0008608"^^xsd:string) AnnotationAssertion( "EFO:1000749"^^xsd:string) AnnotationAssertion( "GARD:7352"^^xsd:string) AnnotationAssertion( "ICD10CM:L10"^^xsd:string) AnnotationAssertion( "ICD9CM:694.4"^^xsd:string) AnnotationAssertion( "MESH:D010392"^^xsd:string) AnnotationAssertion( "NCI:C34909"^^xsd:string) AnnotationAssertion( "ORDO:79481"^^xsd:string) AnnotationAssertion( "IgG/IgA pemphigus"^^xsd:string) AnnotationAssertion( "drug-induced pemphigus"^^xsd:string) AnnotationAssertion( "radiotherapy-induced pemphigus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9182"^^xsd:string) AnnotationAssertion(rdfs:label "pemphigus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vestibule of mouth cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C06.1"^^xsd:string) AnnotationAssertion( "ICD9CM:145.1"^^xsd:string) AnnotationAssertion( "malignant neoplasm of vestibule of mouth"^^xsd:string) AnnotationAssertion( "malignant tumor of vestibule of mouth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9188"^^xsd:string) AnnotationAssertion(rdfs:label "vestibule of mouth cancer"^^xsd:string) SubClassOf( ) # Class: (diabetic macular edema) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009321"^^xsd:string) AnnotationAssertion( "ICD9CM:362.07"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9191"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic macular edema"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (dyskinesia of esophagus) AnnotationAssertion(Annotation( "MESH:D015154"^^xsd:string) "Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)."^^xsd:string) AnnotationAssertion( "ICD10CM:K22.4"^^xsd:string) AnnotationAssertion( "ICD9CM:530.5"^^xsd:string) AnnotationAssertion( "MESH:D015154"^^xsd:string) AnnotationAssertion( "Esophageal Dysmotilities"^^xsd:string) AnnotationAssertion( "Esophageal Dysmotility"^^xsd:string) AnnotationAssertion( "Esophageal Motility Disorder"^^xsd:string) AnnotationAssertion( "Esophageal Motility Disorders"^^xsd:string) AnnotationAssertion( "Nutcracker Esophagus"^^xsd:string) AnnotationAssertion( "dyskinesia of oesophagus"^^xsd:string) AnnotationAssertion( "oesophageal dysmotility"^^xsd:string) AnnotationAssertion( "oesophageal motor disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9192"^^xsd:string) AnnotationAssertion(rdfs:label "dyskinesia of esophagus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (speech disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Speech_disorders"^^xsd:string) "A communication disorder that involves difficulty with the act of speech production. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D013064"^^xsd:string) AnnotationAssertion( "NCI:C5041"^^xsd:string) AnnotationAssertion( "Aprosodia"^^xsd:string) AnnotationAssertion( "Aprosodic Speech"^^xsd:string) AnnotationAssertion( "Cluttering"^^xsd:string) AnnotationAssertion( "Dysglossia"^^xsd:string) AnnotationAssertion( "Dysglossias"^^xsd:string) AnnotationAssertion( "Dyslalia"^^xsd:string) AnnotationAssertion( "Dyslalias"^^xsd:string) AnnotationAssertion( "Rhinolalia"^^xsd:string) AnnotationAssertion( "Rhinolalias"^^xsd:string) AnnotationAssertion( "aprosodias"^^xsd:string) AnnotationAssertion( "clutterings"^^xsd:string) AnnotationAssertion( "speech disorders"^^xsd:string) AnnotationAssertion( "verbal fluency disorder"^^xsd:string) AnnotationAssertion( "verbal fluency disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:92"^^xsd:string) AnnotationAssertion(rdfs:label "speech disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lichen planus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lichen_planus"^^xsd:string) "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000726"^^xsd:string) AnnotationAssertion( "GARD:12344"^^xsd:string) AnnotationAssertion( "ICD10CM:L43"^^xsd:string) AnnotationAssertion( "ICD9CM:697.0"^^xsd:string) AnnotationAssertion( "MESH:D008010"^^xsd:string) AnnotationAssertion( "NCI:C3189"^^xsd:string) AnnotationAssertion( "lichen ruber planus"^^xsd:string) AnnotationAssertion( "lichen rubra planus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9201"^^xsd:string) AnnotationAssertion(rdfs:label "lichen planus"^^xsd:string) SubClassOf( ) # Class: (Barrett's esophagus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/21461873/"^^xsd:string) "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614266"^^xsd:string) AnnotationAssertion( "EFO:0000280"^^xsd:string) AnnotationAssertion( "GARD:20"^^xsd:string) AnnotationAssertion( "ICD10CM:K22.7"^^xsd:string) AnnotationAssertion( "ICD9CM:530.85"^^xsd:string) AnnotationAssertion( "MESH:D001471"^^xsd:string) AnnotationAssertion( "NCI:C2891"^^xsd:string) AnnotationAssertion( "Barrett epithelium"^^xsd:string) AnnotationAssertion( "Barrett esophagus"^^xsd:string) AnnotationAssertion( "Barrett metaplasia"^^xsd:string) AnnotationAssertion( "Barrett syndrome"^^xsd:string) AnnotationAssertion( "Barrett's Syndrome"^^xsd:string) AnnotationAssertion( "Barrett's esophagus with esophagitis"^^xsd:string) AnnotationAssertion( "Barrett's oesophagus"^^xsd:string) AnnotationAssertion( "Barrett's ulcer of esophagus"^^xsd:string) AnnotationAssertion( "Barretts Esophagus"^^xsd:string) AnnotationAssertion( "Barretts syndrome"^^xsd:string) AnnotationAssertion( "ulcerative esophagitis"^^xsd:string) AnnotationAssertion( "BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA"^^xsd:string) AnnotationAssertion( "BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9206"^^xsd:string) AnnotationAssertion(rdfs:label "Barrett's esophagus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periodic limb movement disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder"^^xsd:string) "A sleep disorder that involves involuntary limb movement during sleep. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007428"^^xsd:string) AnnotationAssertion( "ICD10CM:G47.61"^^xsd:string) AnnotationAssertion( "ICD9CM:327.51"^^xsd:string) AnnotationAssertion( "MESH:D020189"^^xsd:string) AnnotationAssertion( "Nocturnal Myoclonus Syndrome"^^xsd:string) AnnotationAssertion( "Nocturnal Myoclonus Syndromes"^^xsd:string) AnnotationAssertion( "Periodic Movement Disorder, Sleep"^^xsd:string) AnnotationAssertion( "Sleep Disorder, Periodic Movements"^^xsd:string) AnnotationAssertion( "Sleep Myoclonus Syndrome"^^xsd:string) AnnotationAssertion( "excessive periodic sleep related leg movements"^^xsd:string) AnnotationAssertion( "nocturnal myoclonus"^^xsd:string) AnnotationAssertion( "sleep myoclonus syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9207"^^xsd:string) AnnotationAssertion(rdfs:label "periodic limb movement disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (herpes zoster oticus) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7525/index"^^xsd:string) "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007281"^^xsd:string) AnnotationAssertion( "GARD:7525"^^xsd:string) AnnotationAssertion( "ICD10CM:B02.21"^^xsd:string) AnnotationAssertion( "ICD9CM:053.11"^^xsd:string) AnnotationAssertion( "MESH:D016697"^^xsd:string) AnnotationAssertion( "NCI:C84763"^^xsd:string) AnnotationAssertion( "Herpes Zoster Cephalicus"^^xsd:string) AnnotationAssertion( "Ramsay Hunt auricular syndrome"^^xsd:string) AnnotationAssertion( "Ramsay Hunt syndrome"^^xsd:string) AnnotationAssertion( "Ramsay Hunt syndrome type 2"^^xsd:string) AnnotationAssertion( "Ramsay Hunt syndrome type II"^^xsd:string) AnnotationAssertion( "Ramsey Hunt syndrome"^^xsd:string) AnnotationAssertion( "auricular syndrome of Ramsay Hunt"^^xsd:string) AnnotationAssertion( "geniculate herpes zoster"^^xsd:string) AnnotationAssertion( "geniculate neuralgia"^^xsd:string) AnnotationAssertion( "geniculate neuralgias"^^xsd:string) AnnotationAssertion( "herpes zoster auricularis"^^xsd:string) AnnotationAssertion( "herpetic geniculate ganglionitides"^^xsd:string) AnnotationAssertion( "herpetic geniculate ganglionitis"^^xsd:string) AnnotationAssertion( "nervus intermedius neuralgia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9210"^^xsd:string) AnnotationAssertion(rdfs:label "herpes zoster oticus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pityriasis rubra pilaris) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/29302927/"^^xsd:string) "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. (DO)"^^xsd:string) AnnotationAssertion( "MIM:173200"^^xsd:string) AnnotationAssertion( "GARD:7401"^^xsd:string) AnnotationAssertion( "ICD10CM:L44.0"^^xsd:string) AnnotationAssertion( "ICD9CM:696.4"^^xsd:string) AnnotationAssertion( "MESH:D010916"^^xsd:string) AnnotationAssertion( "NCI:C85014"^^xsd:string) AnnotationAssertion( "Devergie's disease"^^xsd:string) AnnotationAssertion( "PRP"^^xsd:string) AnnotationAssertion( "papulosquamous eruptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9212"^^xsd:string) AnnotationAssertion(rdfs:label "pityriasis rubra pilaris"^^xsd:string) SubClassOf( ) # Class: (central sleep apnea) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Central_sleep_apnea"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286"^^xsd:string) Annotation( "http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/"^^xsd:string) "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. (DO)"^^xsd:string) AnnotationAssertion( "MIM:107640"^^xsd:string) AnnotationAssertion( "MIM:207720"^^xsd:string) AnnotationAssertion( "MESH:D020182"^^xsd:string) AnnotationAssertion( "NCI:C116046"^^xsd:string) AnnotationAssertion( "Central Alveolar Hypoventilation Syndrome"^^xsd:string) AnnotationAssertion( "Central Apnea"^^xsd:string) AnnotationAssertion( "Central Sleep Apnea Syndrome"^^xsd:string) AnnotationAssertion( "Central Sleep Apneas"^^xsd:string) AnnotationAssertion( "Central Sleep Disordered Breathing"^^xsd:string) AnnotationAssertion( "Central Sleep-Disordered Breathings"^^xsd:string) AnnotationAssertion( "Newborn Primary Sleep Apneas"^^xsd:string) AnnotationAssertion( "Ondine Syndrome"^^xsd:string) AnnotationAssertion( "Primary Central Sleep Apnea"^^xsd:string) AnnotationAssertion( "Primary Sleep Apneas of Newborn"^^xsd:string) AnnotationAssertion( "central alveolar hypoventilation"^^xsd:string) AnnotationAssertion( "central alveolar hypoventilations"^^xsd:string) AnnotationAssertion( "central apneas"^^xsd:string) AnnotationAssertion( "lethal central sleep apnea"^^xsd:string) AnnotationAssertion( "newborn sleep apnea, primary"^^xsd:string) AnnotationAssertion( "secondary central sleep apnea"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9220"^^xsd:string) AnnotationAssertion(rdfs:label "central sleep apnea"^^xsd:string) SubClassOf( ) # Class: (pompholyx) AnnotationAssertion(Annotation( "https://jamanetwork.com/journals/jamadermatology/fullarticle/654498"^^xsd:string) "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000688"^^xsd:string) AnnotationAssertion( "ICD9CM:705.81"^^xsd:string) AnnotationAssertion( "MESH:D011146"^^xsd:string) AnnotationAssertion( "Dyshidrotic Eczemas"^^xsd:string) AnnotationAssertion( "Dyshydrotic Eczema"^^xsd:string) AnnotationAssertion( "Dyshydrotic Eczemas"^^xsd:string) AnnotationAssertion( "Vesicular Palmoplantar Eczema"^^xsd:string) AnnotationAssertion( "Vesicular Palmoplantar Eczemas"^^xsd:string) AnnotationAssertion( "cheiropompholyx"^^xsd:string) AnnotationAssertion( "dyshidrosis"^^xsd:string) AnnotationAssertion( "dyshidrotic eczema"^^xsd:string) AnnotationAssertion( "vesicular eczema of hands and/or feet"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9230"^^xsd:string) AnnotationAssertion(rdfs:label "pompholyx"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (kidney carcinoma in situ) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/4417875"^^xsd:string) "An in situ carcinoma that is located_in the kidney. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:D09.1"^^xsd:string) AnnotationAssertion( "ICD9CM:233.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9234"^^xsd:string) AnnotationAssertion(rdfs:label "kidney carcinoma in situ"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (pyriform sinus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C12"^^xsd:string) AnnotationAssertion( "ICD9CM:148.1"^^xsd:string) AnnotationAssertion( "NCI:C3531"^^xsd:string) AnnotationAssertion( "malignant neoplasm of pyriform fossa"^^xsd:string) AnnotationAssertion( "malignant neoplasm of the pyriform fossa"^^xsd:string) AnnotationAssertion( "malignant tumor of pyriform fossa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9235"^^xsd:string) AnnotationAssertion(rdfs:label "pyriform sinus cancer"^^xsd:string) SubClassOf( ) # Class: (erythromelalgia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Erythromelalgia"^^xsd:string) Annotation( "https://ghr.nlm.nih.gov/condition/erythromelalgia"^^xsd:string) Annotation( "https://rarediseases.org/rare-diseases/erythromelalgia/"^^xsd:string) "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. (DO)"^^xsd:string) AnnotationAssertion( "MIM:133020"^^xsd:string) AnnotationAssertion( "GARD:6377"^^xsd:string) AnnotationAssertion( "ICD10CM:I73.81"^^xsd:string) AnnotationAssertion( "ICD9CM:443.82"^^xsd:string) AnnotationAssertion( "MESH:D004916"^^xsd:string) AnnotationAssertion( "NCI:C125383"^^xsd:string) AnnotationAssertion( "NCI:C34593"^^xsd:string) AnnotationAssertion( "Erythermalgia"^^xsd:string) AnnotationAssertion( "erythermalgias"^^xsd:string) AnnotationAssertion( "erythromelalgias"^^xsd:string) AnnotationAssertion( "ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER"^^xsd:string) AnnotationAssertion( "Familial Erythromelalgia"^^xsd:string) AnnotationAssertion( "INHERITED ERYTHROMELALGIA"^^xsd:string) AnnotationAssertion( "Primary Erythermalgia"^^xsd:string) AnnotationAssertion( "SFNP"^^xsd:string) AnnotationAssertion( "acute episodes of neuropathic symptoms"^^xsd:string) AnnotationAssertion( "primary erythermalgias"^^xsd:string) AnnotationAssertion( "primary erythromelalgia"^^xsd:string) AnnotationAssertion( "sodium channelopathy-related small fiber neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9240"^^xsd:string) AnnotationAssertion(rdfs:label "erythromelalgia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Alagille syndrome) AnnotationAssertion(Annotation( "https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts"^^xsd:string) "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004151"^^xsd:string) AnnotationAssertion( "GARD:804"^^xsd:string) AnnotationAssertion( "ICD10CM:Q44.7"^^xsd:string) AnnotationAssertion( "MESH:D016738"^^xsd:string) AnnotationAssertion( "MIM:PS118450"^^xsd:string) AnnotationAssertion( "MONDO:0007318"^^xsd:string) AnnotationAssertion( "NCI:C35139"^^xsd:string) AnnotationAssertion( "ORDO:52"^^xsd:string) AnnotationAssertion( "AHD"^^xsd:string) AnnotationAssertion( "ALGS"^^xsd:string) AnnotationAssertion( "AWS"^^xsd:string) AnnotationAssertion( "Alagille Watson Syndrome"^^xsd:string) AnnotationAssertion( "Alagille's syndrome"^^xsd:string) AnnotationAssertion( "Alagilles syndrome"^^xsd:string) AnnotationAssertion( "Arteriohepatic Dysplasia"^^xsd:string) AnnotationAssertion( "Arteriohepatic Dysplasia (AHD)"^^xsd:string) AnnotationAssertion( "Cardiovertebral Syndrome"^^xsd:string) AnnotationAssertion( "Cholestasis with Peripheral Pulmonary Stenosis"^^xsd:string) AnnotationAssertion( "Hepatic Ductular Hypoplasia"^^xsd:string) AnnotationAssertion( "Hepatic Ductular Hypoplasia, Syndromatic"^^xsd:string) AnnotationAssertion( "Watson-Miller syndrome"^^xsd:string) AnnotationAssertion( "hepatofacioneurocardiovertebral syndrome"^^xsd:string) AnnotationAssertion( "paucity of interlobular bile ducts"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9245"^^xsd:string) AnnotationAssertion(rdfs:label "Alagille syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (cerebral amyloid angiopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy"^^xsd:string) "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006790"^^xsd:string) AnnotationAssertion( "MESH:D016657"^^xsd:string) AnnotationAssertion( "ORDO:85458"^^xsd:string) AnnotationAssertion( "Congophilic Angiopathy"^^xsd:string) AnnotationAssertion( "Dutch hereditary cerebral amyloid angiopathy"^^xsd:string) AnnotationAssertion( "cerebral amyloid angiopathies"^^xsd:string) AnnotationAssertion( "congophilic angiopathies"^^xsd:string) AnnotationAssertion( "hereditary cerebral haemorrhage with amyloidosis - Dutch type"^^xsd:string) AnnotationAssertion( "sporadic cerebral amyloid angiopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9246"^^xsd:string) AnnotationAssertion(rdfs:label "cerebral amyloid angiopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Pallister-Hall syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/31011455/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/8914745/"^^xsd:string) Annotation( "https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome"^^xsd:string) "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO)"^^xsd:string) AnnotationAssertion( "MIM:146510"^^xsd:string) AnnotationAssertion( "GARD:7305"^^xsd:string) AnnotationAssertion( "MESH:D054975"^^xsd:string) AnnotationAssertion( "NCI:C84987"^^xsd:string) AnnotationAssertion( "CAVE complex"^^xsd:string) AnnotationAssertion( "Cerebroacrovisceral Early Lethality Complex"^^xsd:string) AnnotationAssertion( "Hypothalamic Hamartoblastoma Syndrome"^^xsd:string) AnnotationAssertion( "Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly"^^xsd:string) AnnotationAssertion( "PHS"^^xsd:string) AnnotationAssertion( "hypothalamic hamartoblastoma syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9248"^^xsd:string) AnnotationAssertion(rdfs:label "Pallister-Hall syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Beemer-Langer syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome"^^xsd:string) Annotation( "http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/"^^xsd:string) "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. (DO)"^^xsd:string) AnnotationAssertion( "MIM:269860"^^xsd:string) AnnotationAssertion( "MESH:C537599"^^xsd:string) AnnotationAssertion( "SRPS IV"^^xsd:string) AnnotationAssertion( "SRPS, type 4"^^xsd:string) AnnotationAssertion( "SRTD12"^^xsd:string) AnnotationAssertion( "short rib syndrome, Beemer type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, Beemer type"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, type 4"^^xsd:string) AnnotationAssertion( "short rib-polydactyly syndrome, type IV"^^xsd:string) AnnotationAssertion( "short-rib thoracic dysplasia 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9249"^^xsd:string) AnnotationAssertion(rdfs:label "Beemer-Langer syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acrocallosal syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Acrocallosal_syndrome"^^xsd:string) "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C538177"^^xsd:string) AnnotationAssertion( "MIM:200990"^^xsd:string) AnnotationAssertion( "GARD:5721"^^xsd:string) AnnotationAssertion( "MESH:D055673"^^xsd:string) AnnotationAssertion( "NCI:C84531"^^xsd:string) AnnotationAssertion( "ACLS"^^xsd:string) AnnotationAssertion( "Acrocallosal syndromes"^^xsd:string) AnnotationAssertion( "SCHINZEL ACROCALLOSAL SYNDROME"^^xsd:string) AnnotationAssertion( "Schinzel syndrome 1"^^xsd:string) AnnotationAssertion( "acrocallosal syndrome, Schinzel type"^^xsd:string) AnnotationAssertion( "hallux duplication, postaxial polydactyly, and absence of corpus callosum"^^xsd:string) AnnotationAssertion( "Joubert syndrome 12/15, digenic"^^xsd:string) AnnotationAssertion( "SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9250"^^xsd:string) AnnotationAssertion(rdfs:label "acrocallosal syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (amino acid metabolic disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism"^^xsd:string) "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5793"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.9"^^xsd:string) AnnotationAssertion( "ICD9CM:270"^^xsd:string) AnnotationAssertion( "MESH:D000592"^^xsd:string) AnnotationAssertion( "NCI:C97090"^^xsd:string) AnnotationAssertion( "Amino Acid Metabolism, Inborn Error"^^xsd:string) AnnotationAssertion( "Amino Acid Metabolism, Inherited Disorders"^^xsd:string) AnnotationAssertion( "Congenital Amino Acidopathies"^^xsd:string) AnnotationAssertion( "Congenital Amino Acidopathy"^^xsd:string) AnnotationAssertion( "Inborn Amino Acidopathies"^^xsd:string) AnnotationAssertion( "amino acid metabolism, inborn errors"^^xsd:string) AnnotationAssertion( "inborn amino acid metabolism disorders"^^xsd:string) AnnotationAssertion( "inborn amino acidopathy"^^xsd:string) AnnotationAssertion( "inborn errors of amino acid metabolism"^^xsd:string) AnnotationAssertion( "inherited errors of amino acid metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9252"^^xsd:string) AnnotationAssertion(rdfs:label "amino acid metabolic disorder"^^xsd:string) SubClassOf( ) # Class: (gastrointestinal stromal tumor) AnnotationAssertion(Annotation( "MESH:D046152"^^xsd:string) "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA)."^^xsd:string) AnnotationAssertion( "MIM:606764"^^xsd:string) AnnotationAssertion( "OMIA:001516"^^xsd:string) AnnotationAssertion( "EFO:0000505"^^xsd:string) AnnotationAssertion( "EFO:1000192"^^xsd:string) AnnotationAssertion( "GARD:8598"^^xsd:string) AnnotationAssertion( "ICD10CM:C49.A"^^xsd:string) AnnotationAssertion( "ICDO:8936/3"^^xsd:string) AnnotationAssertion( "MESH:D046152"^^xsd:string) AnnotationAssertion( "MONDO:0011719"^^xsd:string) AnnotationAssertion( "NCI:C158783"^^xsd:string) AnnotationAssertion( "NCI:C3868"^^xsd:string) AnnotationAssertion( "GANT"^^xsd:string) AnnotationAssertion( "GASTROINTESTINAL STROMA TUMOR"^^xsd:string) AnnotationAssertion( "GIST"^^xsd:string) AnnotationAssertion( "Gastrointestinal Stromal Neoplasm"^^xsd:string) AnnotationAssertion( "Gastrointestinal Stromal Sarcoma"^^xsd:string) AnnotationAssertion( "gastrointestinal stromal neoplasms"^^xsd:string) AnnotationAssertion( "gastrointestinal stromal tumors"^^xsd:string) AnnotationAssertion( "gastrointestinal stromal tumour"^^xsd:string) AnnotationAssertion( "stromal tumor of gastrointestinal tract"^^xsd:string) AnnotationAssertion( "stromal tumour of gastrointestinal tract"^^xsd:string) AnnotationAssertion( "Colorectal Gastrointestinal Stromal Tumor"^^xsd:string) AnnotationAssertion( "GASTROINTESTINAL STROMAL TUMOR OF SMALL INTESTINE"^^xsd:string) AnnotationAssertion( "GASTROINTESTINAL STROMAL TUMOR, SOMATIC"^^xsd:string) AnnotationAssertion( "Gastrointestinal stromal tumor, familial"^^xsd:string) AnnotationAssertion( "SMALL INTESTINAL GASTROINTESTINAL STROMAL TUMOR"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9253"^^xsd:string) AnnotationAssertion(rdfs:label "gastrointestinal stromal tumor"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (mast-cell leukemia) AnnotationAssertion(Annotation( "http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia"^^xsd:string) "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007359"^^xsd:string) AnnotationAssertion( "ICD10CM:C94.3"^^xsd:string) AnnotationAssertion( "ICDO:9742/3"^^xsd:string) AnnotationAssertion( "MESH:D007946"^^xsd:string) AnnotationAssertion( "NCI:C3169"^^xsd:string) AnnotationAssertion( "Mast-Cell Leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9254"^^xsd:string) AnnotationAssertion(rdfs:label "mast-cell leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (frontotemporal dementia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Frontotemporal_dementia"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/21121521"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract"^^xsd:string) "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (DO)"^^xsd:string) AnnotationAssertion( "MIM:600274"^^xsd:string) AnnotationAssertion( "GARD:8436"^^xsd:string) AnnotationAssertion( "MESH:D057180"^^xsd:string) AnnotationAssertion( "MONDO:0017276"^^xsd:string) AnnotationAssertion( "NCI:C84719"^^xsd:string) AnnotationAssertion( "ORDO:282"^^xsd:string) AnnotationAssertion( "DDPAC"^^xsd:string) AnnotationAssertion( "Disinhibition Dementia Parkinsonism Amytrophy Complex"^^xsd:string) AnnotationAssertion( "FLDEM"^^xsd:string) AnnotationAssertion( "FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS"^^xsd:string) AnnotationAssertion( "FTD"^^xsd:string) AnnotationAssertion( "FTD-GRN"^^xsd:string) AnnotationAssertion( "FTD-PGRN"^^xsd:string) AnnotationAssertion( "FTDP-17"^^xsd:string) AnnotationAssertion( "FTDP17"^^xsd:string) AnnotationAssertion( "FTLD WITH TAU INCLUSIONS"^^xsd:string) AnnotationAssertion( "FTLD with TDP 43 Pathology"^^xsd:string) AnnotationAssertion( "FTLD-17 GRN"^^xsd:string) AnnotationAssertion( "FTLD-TDP"^^xsd:string) AnnotationAssertion( "Familial Pick Disease"^^xsd:string) AnnotationAssertion( "Familial Pick's Disease"^^xsd:string) AnnotationAssertion( "Familial Picks Disease"^^xsd:string) AnnotationAssertion( "Frontotemporal Dementia with Parkinsonism"^^xsd:string) AnnotationAssertion( "Frontotemporal Dementia with Parkinsonism 17"^^xsd:string) AnnotationAssertion( "Frontotemporal Lobe Dementia"^^xsd:string) AnnotationAssertion( "Frontotemporal Lobe Dementia (FLDEM)"^^xsd:string) AnnotationAssertion( "Frontotemporal Lobe Dementias"^^xsd:string) AnnotationAssertion( "Frontotemporal Lobe Dementias (FLDEM)"^^xsd:string) AnnotationAssertion( "GRN Related Frontotemporal Dementia"^^xsd:string) AnnotationAssertion( "GRN-Related Frontotemporal Dementias"^^xsd:string) AnnotationAssertion( "HDDD1"^^xsd:string) AnnotationAssertion( "HDDD2"^^xsd:string) AnnotationAssertion( "Hereditary Dysphasic Disinhibition Dementia"^^xsd:string) AnnotationAssertion( "MSTD"^^xsd:string) AnnotationAssertion( "WLD"^^xsd:string) AnnotationAssertion( "Wilhelmsen Lynch disease"^^xsd:string) AnnotationAssertion( "Wilhelmsen-Lynch diseases"^^xsd:string) AnnotationAssertion( "Wilhemsen-Lynch disease"^^xsd:string) AnnotationAssertion( "disinhibition dementia parkinsonism amyotrophy complex"^^xsd:string) AnnotationAssertion( "familial Pick's diseases"^^xsd:string) AnnotationAssertion( "frontotemporal dementias"^^xsd:string) AnnotationAssertion( "multiple system tauopathy with presenile dementia"^^xsd:string) AnnotationAssertion( "semantic dementia"^^xsd:string) AnnotationAssertion( "semantic dementias"^^xsd:string) AnnotationAssertion( "PALLIDOPONTONIGRAL DEGENERATION"^^xsd:string) AnnotationAssertion( "PPND PICK COMPLEX"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9255"^^xsd:string) AnnotationAssertion(rdfs:label "frontotemporal dementia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (colorectal cancer) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=444983"^^xsd:string) "A large intestine cancer that is located_in the colon and/or located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-13T00:00:00Z"^^xsd:string) AnnotationAssertion( "MIM:114500"^^xsd:string) AnnotationAssertion( "MIM:608812"^^xsd:string) AnnotationAssertion( "MIM:611469"^^xsd:string) AnnotationAssertion( "MIM:612229"^^xsd:string) AnnotationAssertion( "MIM:612230"^^xsd:string) AnnotationAssertion( "MIM:612231"^^xsd:string) AnnotationAssertion( "MIM:612232"^^xsd:string) AnnotationAssertion( "MIM:612589"^^xsd:string) AnnotationAssertion( "MIM:612590"^^xsd:string) AnnotationAssertion( "MIM:612592"^^xsd:string) AnnotationAssertion( "MIM:615083"^^xsd:string) AnnotationAssertion( "AXIN2-RELATED DISORDER"^^xsd:string) AnnotationAssertion( "EFO:0005842"^^xsd:string) AnnotationAssertion( "ICD10CM:C18.9"^^xsd:string) AnnotationAssertion( "NCI:C2956"^^xsd:string) AnnotationAssertion( "NCI:C4978"^^xsd:string) AnnotationAssertion( "CRC"^^xsd:string) AnnotationAssertion( "colorectal cancers"^^xsd:string) AnnotationAssertion( "malignant colorectal neoplasm"^^xsd:string) AnnotationAssertion( "COLORECTAL CANCER 1"^^xsd:string) AnnotationAssertion( "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY, SOMATIC"^^xsd:string) AnnotationAssertion( "DLC1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "FAMILIAL COLORECTAL CANCER"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY"^^xsd:string) AnnotationAssertion( "CRCS1"^^xsd:string) AnnotationAssertion( "CRCS11"^^xsd:string) AnnotationAssertion( "CRCS12"^^xsd:string) AnnotationAssertion( "CRCS2"^^xsd:string) AnnotationAssertion( "CRCS3"^^xsd:string) AnnotationAssertion( "CRCS5"^^xsd:string) AnnotationAssertion( "CRCS6"^^xsd:string) AnnotationAssertion( "CRCS7"^^xsd:string) AnnotationAssertion( "CRCS8"^^xsd:string) AnnotationAssertion( "CRCS9"^^xsd:string) AnnotationAssertion( "Colorectal cancer, increased risk, assoc. with"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 11"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 12"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 5"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 6"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 7"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 8"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, 9"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 11"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 12q24"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 14q"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 16q"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 18"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 20p"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 8q23"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 8q24"^^xsd:string) AnnotationAssertion( "colorectal cancer, susceptibility to, on chromosome 9"^^xsd:string) AnnotationAssertion( "DOID:9256"^^xsd:string) AnnotationAssertion(rdfs:label "colorectal cancer"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Waardenburg syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Waardenburg_syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract"^^xsd:string) "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)"^^xsd:string) AnnotationAssertion( "GARD:5525"^^xsd:string) AnnotationAssertion( "MESH:D014849"^^xsd:string) AnnotationAssertion( "MIM:PS193500"^^xsd:string) AnnotationAssertion( "NCI:C75008"^^xsd:string) AnnotationAssertion( "NCI:C85222"^^xsd:string) AnnotationAssertion( "ORDO:3440"^^xsd:string) AnnotationAssertion( "ORDO:895"^^xsd:string) AnnotationAssertion( "Klein Syndrome"^^xsd:string) AnnotationAssertion( "Klein's syndrome"^^xsd:string) AnnotationAssertion( "Kleins syndrome"^^xsd:string) AnnotationAssertion( "Waardenburg Shah syndrome"^^xsd:string) AnnotationAssertion( "Waardenburg's syndrome"^^xsd:string) AnnotationAssertion( "Waardenburgs syndrome"^^xsd:string) AnnotationAssertion( "White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations"^^xsd:string) AnnotationAssertion( "van der Hoeve Halbertsona Waardenburg syndrome"^^xsd:string) AnnotationAssertion( "Waardenburg, types I and/or II"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9258"^^xsd:string) AnnotationAssertion(rdfs:label "Waardenburg syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (nasopharynx carcinoma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma"^^xsd:string) "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "MIM:161550"^^xsd:string) AnnotationAssertion( "MIM:617075"^^xsd:string) AnnotationAssertion( "GARD:7163"^^xsd:string) AnnotationAssertion( "ICD10CM:C11"^^xsd:string) AnnotationAssertion( "ICD10CM:C11.0"^^xsd:string) AnnotationAssertion( "ICD10CM:C11.1"^^xsd:string) AnnotationAssertion( "ICD10CM:C11.2"^^xsd:string) AnnotationAssertion( "ICD10CM:C11.3"^^xsd:string) AnnotationAssertion( "ICD9CM:147"^^xsd:string) AnnotationAssertion( "ICD9CM:147.0"^^xsd:string) AnnotationAssertion( "ICD9CM:147.1"^^xsd:string) AnnotationAssertion( "ICD9CM:147.2"^^xsd:string) AnnotationAssertion( "ICD9CM:147.3"^^xsd:string) AnnotationAssertion( "MIM:607107"^^xsd:string) AnnotationAssertion( "NCI:C3871"^^xsd:string) AnnotationAssertion( "NCI:C9321"^^xsd:string) AnnotationAssertion( "ORDO:150"^^xsd:string) AnnotationAssertion( "NPC"^^xsd:string) AnnotationAssertion( "NPCA"^^xsd:string) AnnotationAssertion( "cancer of nasopharynx"^^xsd:string) AnnotationAssertion( "cancer of the nasopharynx"^^xsd:string) AnnotationAssertion( "malignant nasopharyngeal tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of nasopharynx"^^xsd:string) AnnotationAssertion( "nasopharyngeal cancer"^^xsd:string) AnnotationAssertion( "nasopharyngeal cancers"^^xsd:string) AnnotationAssertion( "nasopharyngeal carcinoma"^^xsd:string) AnnotationAssertion( "nasopharynx cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "NPCA1"^^xsd:string) AnnotationAssertion( "NPCA2"^^xsd:string) AnnotationAssertion( "NPCA3"^^xsd:string) AnnotationAssertion( "carcinoma of nasopharynx"^^xsd:string) AnnotationAssertion( "nasopharyngeal carcinoma, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "nasopharyngeal carcinoma, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "nasopharyngeal carcinoma, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "DOID:9261"^^xsd:string) AnnotationAssertion(rdfs:label "nasopharynx carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (homocystinuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Homocystinuria"^^xsd:string) "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:236200"^^xsd:string) AnnotationAssertion( "GARD:10770"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.11"^^xsd:string) AnnotationAssertion( "MESH:D006712"^^xsd:string) AnnotationAssertion( "NCI:C84765"^^xsd:string) AnnotationAssertion( "ORDO:394"^^xsd:string) AnnotationAssertion( "CBS Deficiencies"^^xsd:string) AnnotationAssertion( "CBS Deficiency"^^xsd:string) AnnotationAssertion( "CBS-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Cystathionine Beta Synthase Deficiency"^^xsd:string) AnnotationAssertion( "Cystathionine beta Synthase Deficiency Disease"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA DUE TO CBS DEFICIENCY"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE"^^xsd:string) AnnotationAssertion( "Homocystinuria, Pyridoxine-Nonresponsive"^^xsd:string) AnnotationAssertion( "cystathionine synthase deficiency"^^xsd:string) AnnotationAssertion( "thrombotic hyperhomocysteinemia, CBS-related"^^xsd:string) AnnotationAssertion( "CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related"^^xsd:string) AnnotationAssertion( "HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9263"^^xsd:string) AnnotationAssertion(rdfs:label "homocystinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (histidine metabolism disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Histidine#Metabolism"^^xsd:string) "An amino acid metabolic disorder that involves deficiency in histidine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.4"^^xsd:string) AnnotationAssertion( "ICD9CM:270.5"^^xsd:string) AnnotationAssertion( "disturbances of histidine metabolism"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9265"^^xsd:string) AnnotationAssertion(rdfs:label "histidine metabolism disease"^^xsd:string) SubClassOf( ) # Class: (cystinuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cystinuria"^^xsd:string) "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C531664"^^xsd:string) AnnotationAssertion( "MESH:C565652"^^xsd:string) AnnotationAssertion( "MIM:220100"^^xsd:string) AnnotationAssertion( "OMIA:000256"^^xsd:string) AnnotationAssertion( "OMIA:001879"^^xsd:string) AnnotationAssertion( "OMIA:001880"^^xsd:string) AnnotationAssertion( "EFO:0010826"^^xsd:string) AnnotationAssertion( "GARD:6237"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.01"^^xsd:string) AnnotationAssertion( "MESH:D003555"^^xsd:string) AnnotationAssertion( "NCI:C84664"^^xsd:string) AnnotationAssertion( "ORDO:214"^^xsd:string) AnnotationAssertion( "CSNU"^^xsd:string) AnnotationAssertion( "CSNU1"^^xsd:string) AnnotationAssertion( "CSNU3"^^xsd:string) AnnotationAssertion( "cystinurias"^^xsd:string) AnnotationAssertion( "SLC7A9-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "cystinuria type 1"^^xsd:string) AnnotationAssertion( "cystinuria type A"^^xsd:string) AnnotationAssertion( "cystinuria type A-B"^^xsd:string) AnnotationAssertion( "cystinuria type A/B"^^xsd:string) AnnotationAssertion( "cystinuria type B"^^xsd:string) AnnotationAssertion( "cystinuria type I"^^xsd:string) AnnotationAssertion( "cystinuria type I - A"^^xsd:string) AnnotationAssertion( "cystinuria type II"^^xsd:string) AnnotationAssertion( "cystinuria type II - A"^^xsd:string) AnnotationAssertion( "cystinuria type II - B"^^xsd:string) AnnotationAssertion( "cystinuria type III"^^xsd:string) AnnotationAssertion( "cystinuria type NON-I"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cystine urolithiasis"^^xsd:string) AnnotationAssertion( "DOID:9266"^^xsd:string) AnnotationAssertion(rdfs:label "cystinuria"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (urea cycle disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Urea_cycle_disorder"^^xsd:string) "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7837"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.2"^^xsd:string) AnnotationAssertion( "ICD9CM:270.6"^^xsd:string) AnnotationAssertion( "MESH:D056806"^^xsd:string) AnnotationAssertion( "NCI:C84785"^^xsd:string) AnnotationAssertion( "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia"^^xsd:string) AnnotationAssertion( "disorder of urea cycle metabolism"^^xsd:string) AnnotationAssertion( "inborn urea cycle disorder"^^xsd:string) AnnotationAssertion( "inborn urea cycle disorders"^^xsd:string) AnnotationAssertion( "urea cycle defect"^^xsd:string) AnnotationAssertion( "urea cycle disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9267"^^xsd:string) AnnotationAssertion(rdfs:label "urea cycle disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glycine encephalopathy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia"^^xsd:string) "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7219"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.51"^^xsd:string) AnnotationAssertion( "MESH:D020158"^^xsd:string) AnnotationAssertion( "MIM:PS605899"^^xsd:string) AnnotationAssertion( "NCI:C84937"^^xsd:string) AnnotationAssertion( "GCE"^^xsd:string) AnnotationAssertion( "Non ketotic Hyperglycinemia"^^xsd:string) AnnotationAssertion( "Non-ketotic Hyperglycinemias"^^xsd:string) AnnotationAssertion( "Nonketotic Hyperglycinemias"^^xsd:string) AnnotationAssertion( "glycine encephalopathies"^^xsd:string) AnnotationAssertion( "nonketotic hyperglycinemia"^^xsd:string) AnnotationAssertion( "type I nonketotic hyperglycinemia"^^xsd:string) AnnotationAssertion( "type II nonketotic hyperglycinemia"^^xsd:string) AnnotationAssertion( "type III nonketotic hyperglycinemia"^^xsd:string) AnnotationAssertion( "NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL"^^xsd:string) AnnotationAssertion( "TNH"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9268"^^xsd:string) AnnotationAssertion(rdfs:label "glycine encephalopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (maple syrup urine disease) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease"^^xsd:string) "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (DO)"^^xsd:string) AnnotationAssertion( "MIM:615135"^^xsd:string) AnnotationAssertion( "GARD:3228"^^xsd:string) AnnotationAssertion( "ICD10CM:E71.0"^^xsd:string) AnnotationAssertion( "MESH:D008375"^^xsd:string) AnnotationAssertion( "MIM:PS248600"^^xsd:string) AnnotationAssertion( "NCI:C34806"^^xsd:string) AnnotationAssertion( "ORDO:511"^^xsd:string) AnnotationAssertion( "BCKD deficiency"^^xsd:string) AnnotationAssertion( "Branched Chain Ketoaciduria"^^xsd:string) AnnotationAssertion( "Branched Chain alpha Keto Acid Dehydrogenase Deficiency"^^xsd:string) AnnotationAssertion( "Branched-Chain Ketoacidurias"^^xsd:string) AnnotationAssertion( "Classic Maple Syrup Urine Disease"^^xsd:string) AnnotationAssertion( "Classical Maple Syrup Urine Disease"^^xsd:string) AnnotationAssertion( "Keto Acid Decarboxylase Deficiency"^^xsd:string) AnnotationAssertion( "MSUD"^^xsd:string) AnnotationAssertion( "MSUD (maple syrup urine disease)"^^xsd:string) AnnotationAssertion( "MSUDMV"^^xsd:string) AnnotationAssertion( "ketoacidaemia"^^xsd:string) AnnotationAssertion( "KETO ACID DECARBOXYLASE DEFICIENCY"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, intermediate"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, intermittent"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, mild variant"^^xsd:string) AnnotationAssertion( "maple syrup urine disease, thiamine-responsive"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9269"^^xsd:string) AnnotationAssertion(rdfs:label "maple syrup urine disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (alkaptonuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alkaptonuria"^^xsd:string) "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)"^^xsd:string) AnnotationAssertion( "MIM:203500"^^xsd:string) AnnotationAssertion( "GARD:5775"^^xsd:string) AnnotationAssertion( "MESH:D000474"^^xsd:string) AnnotationAssertion( "MONDO:0008753"^^xsd:string) AnnotationAssertion( "NCI:C84546"^^xsd:string) AnnotationAssertion( "ORDO:56"^^xsd:string) AnnotationAssertion( "AKU"^^xsd:string) AnnotationAssertion( "Alcaptonuria"^^xsd:string) AnnotationAssertion( "Alcaptonurias"^^xsd:string) AnnotationAssertion( "Homogentisic Acid Oxidase Deficiency"^^xsd:string) AnnotationAssertion( "Homogentisic Acidura"^^xsd:string) AnnotationAssertion( "homogentisate 1,2-dioxygenase deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "deficiency of homogentisicase"^^xsd:string) AnnotationAssertion( "DOID:9270"^^xsd:string) AnnotationAssertion(rdfs:label "alkaptonuria"^^xsd:string) SubClassOf( ) # Class: (ornithine carbamoyltransferase deficiency) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency"^^xsd:string) "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (DO)"^^xsd:string) AnnotationAssertion( "MIM:311250"^^xsd:string) AnnotationAssertion( "EFO:0007409"^^xsd:string) AnnotationAssertion( "GARD:8391"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.4"^^xsd:string) AnnotationAssertion( "MESH:D020163"^^xsd:string) AnnotationAssertion( "NCI:C84957"^^xsd:string) AnnotationAssertion( "ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO"^^xsd:string) AnnotationAssertion( "OTC Deficiencies"^^xsd:string) AnnotationAssertion( "OTC deficiency"^^xsd:string) AnnotationAssertion( "OTC-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Ornithine Transcarbamylase Deficiencies"^^xsd:string) AnnotationAssertion( "Ornithine Transcarbamylase Deficiency"^^xsd:string) AnnotationAssertion( "Ornithine Transcarbamylase Deficiency Disease"^^xsd:string) AnnotationAssertion( "deficiency disease, ornithine carbamoyltransferase"^^xsd:string) AnnotationAssertion( "deficiency of citrulline phosphorylase"^^xsd:string) AnnotationAssertion( "OTC DEFICIENCY VALPROATE SENSITIVITY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9271"^^xsd:string) AnnotationAssertion(rdfs:label "ornithine carbamoyltransferase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (citrullinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Citrullinemia"^^xsd:string) "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.23"^^xsd:string) AnnotationAssertion( "MESH:D020159"^^xsd:string) AnnotationAssertion( "NCI:C84639"^^xsd:string) AnnotationAssertion( "ORDO:187"^^xsd:string) AnnotationAssertion( "Argininosuccinic Acid Synthetase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Argininosuccinic Acid Synthetase Deficiency, Complete"^^xsd:string) AnnotationAssertion( "argininosuccinic acid synthase deficiency disease"^^xsd:string) AnnotationAssertion( "argininosuccinic acid synthetase deficiency"^^xsd:string) AnnotationAssertion( "argininosuccinic acid synthetase deficiency disease, partial"^^xsd:string) AnnotationAssertion( "argininosuccinic acid synthetase deficiency, partial"^^xsd:string) AnnotationAssertion( "citrullinemias"^^xsd:string) AnnotationAssertion( "citrullinuria"^^xsd:string) AnnotationAssertion( "citrullinurias"^^xsd:string) AnnotationAssertion( "complete argininosuccinic acid synthetase deficiency disease"^^xsd:string) AnnotationAssertion( "deficiency of citrulline-aspartate ligase"^^xsd:string) AnnotationAssertion( "CITRULLINEMIA, MILD"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9273"^^xsd:string) AnnotationAssertion(rdfs:label "citrullinemia"^^xsd:string) SubClassOf( ) # Class: (hyperlysinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperlysinemia"^^xsd:string) "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:238700"^^xsd:string) AnnotationAssertion( "MIM:238750"^^xsd:string) AnnotationAssertion( "GARD:2828"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.3"^^xsd:string) AnnotationAssertion( "MESH:D020167"^^xsd:string) AnnotationAssertion( "NCI:C123433"^^xsd:string) AnnotationAssertion( "ORDO:2203"^^xsd:string) AnnotationAssertion( "Familial Hyperlysinemia"^^xsd:string) AnnotationAssertion( "HYPERLYSINEMIA, TYPE I"^^xsd:string) AnnotationAssertion( "Hyperlysinuria With Hyperammonemia"^^xsd:string) AnnotationAssertion( "L Lysine:NAD Oxido Reductase Deficiency"^^xsd:string) AnnotationAssertion( "L-Lysine:NAD-oxido-reductase deficiencies"^^xsd:string) AnnotationAssertion( "Lysine Alpha Ketoglutarate Reductase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Lysine:Alpha Ketoglutarate Reductase Deficiency"^^xsd:string) AnnotationAssertion( "familial hyperlysinemias"^^xsd:string) AnnotationAssertion( "hyperlysinemias"^^xsd:string) AnnotationAssertion( "lysine intolerance"^^xsd:string) AnnotationAssertion( "lysine:alpha-ketoglutarate reductase deficiencies"^^xsd:string) AnnotationAssertion( "periodic hyperlysinemia"^^xsd:string) AnnotationAssertion( "periodic hyperlysinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9274"^^xsd:string) AnnotationAssertion(rdfs:label "hyperlysinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tyrosinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Tyrosinemia"^^xsd:string) "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E70.21"^^xsd:string) AnnotationAssertion( "MESH:D020176"^^xsd:string) AnnotationAssertion( "MIM:PS276700"^^xsd:string) AnnotationAssertion( "NCI:C98640"^^xsd:string) AnnotationAssertion( "FAH deficiency"^^xsd:string) AnnotationAssertion( "Hereditary Tyrosinemia"^^xsd:string) AnnotationAssertion( "Hypertyrosinemia"^^xsd:string) AnnotationAssertion( "Keratosis Palmoplantaris with Corneal Dystrophy"^^xsd:string) AnnotationAssertion( "Oculocutaneous Type Tyrosinosis"^^xsd:string) AnnotationAssertion( "Oregon type tyrosinemia"^^xsd:string) AnnotationAssertion( "TAT deficiency"^^xsd:string) AnnotationAssertion( "fumarylacetoacetase deficiencies"^^xsd:string) AnnotationAssertion( "fumarylacetoacetase deficiency"^^xsd:string) AnnotationAssertion( "fumarylacetoacetase deficiency disease"^^xsd:string) AnnotationAssertion( "fumarylacetoacetase deficiency diseases"^^xsd:string) AnnotationAssertion( "hereditary tyrosinemias"^^xsd:string) AnnotationAssertion( "oculocutaneous type tyrosinoses"^^xsd:string) AnnotationAssertion( "tyrosine aminotransferase deficiency"^^xsd:string) AnnotationAssertion( "tyrosine transaminase deficiency"^^xsd:string) AnnotationAssertion( "tyrosine transaminase deficiency disease"^^xsd:string) AnnotationAssertion( "tyrosinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9275"^^xsd:string) AnnotationAssertion(rdfs:label "tyrosinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary cerebellar degeneration) AnnotationAssertion(Annotation( "MESH:D013132"^^xsd:string) "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."^^xsd:string) AnnotationAssertion( "MIM:248800"^^xsd:string) AnnotationAssertion( "ICD9CM:334.2"^^xsd:string) AnnotationAssertion( "MESH:D013132"^^xsd:string) AnnotationAssertion( "Early Onset Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Familial Spinocerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Hereditary Ataxia"^^xsd:string) AnnotationAssertion( "Hereditary Ataxias"^^xsd:string) AnnotationAssertion( "Hereditary Spinocerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Hereditary Spinocerebellar Degenerations"^^xsd:string) AnnotationAssertion( "Inherited Spinocerebellar Degeneration"^^xsd:string) AnnotationAssertion( "Inherited Spinocerebellar Degenerations"^^xsd:string) AnnotationAssertion( "Late Onset Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "MSS"^^xsd:string) AnnotationAssertion( "Marie Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Marie's Cerebellar Ataxia"^^xsd:string) AnnotationAssertion( "Primary Cerebellar Degenerations"^^xsd:string) AnnotationAssertion( "Spino Cerebellar Degeneration"^^xsd:string) AnnotationAssertion( "corticostriatal spinal degeneration"^^xsd:string) AnnotationAssertion( "corticostriatal-spinal degenerations"^^xsd:string) AnnotationAssertion( "familial spinocerebellar degenerations"^^xsd:string) AnnotationAssertion( "spino cerebellar degenerations"^^xsd:string) AnnotationAssertion( "spinocerebellar degeneration"^^xsd:string) AnnotationAssertion( "spinocerebellar degenerations"^^xsd:string) AnnotationAssertion( "spinocerebellar disease"^^xsd:string) AnnotationAssertion( "spinocerebellar diseases"^^xsd:string) AnnotationAssertion( "SENSORIMOTOR NEUROPATHY"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9277"^^xsd:string) AnnotationAssertion(rdfs:label "primary cerebellar degeneration"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperargininemia) AnnotationAssertion(Annotation( "https://www.medlink.com/articles/hyperargininemia"^^xsd:string) "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. (DO)"^^xsd:string) AnnotationAssertion( "MIM:207800"^^xsd:string) AnnotationAssertion( "ICD10CM:E72.21"^^xsd:string) AnnotationAssertion( "MESH:D020162"^^xsd:string) AnnotationAssertion( "NCI:C84568"^^xsd:string) AnnotationAssertion( "ARG1 Deficiency"^^xsd:string) AnnotationAssertion( "ARG1 deficiencies"^^xsd:string) AnnotationAssertion( "Arginase Deficiency"^^xsd:string) AnnotationAssertion( "Arginase Deficiency Disease"^^xsd:string) AnnotationAssertion( "arginase deficiencies"^^xsd:string) AnnotationAssertion( "arginase deficiency diseases"^^xsd:string) AnnotationAssertion( "argininemia"^^xsd:string) AnnotationAssertion( "deficiency of canavanase"^^xsd:string) AnnotationAssertion( "hyperargininemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9278"^^xsd:string) AnnotationAssertion(rdfs:label "hyperargininemia"^^xsd:string) SubClassOf( ) # Class: (hyperhomocysteinemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hyperhomocysteinemia"^^xsd:string) "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MESH:C566403"^^xsd:string) AnnotationAssertion( "MIM:603174"^^xsd:string) AnnotationAssertion( "MESH:D020138"^^xsd:string) AnnotationAssertion( "NCI:C84770"^^xsd:string) AnnotationAssertion( "HOMOCYSTEINE, TOTAL PLASMA, ELEVATED"^^xsd:string) AnnotationAssertion( "Homocysteinemia"^^xsd:string) AnnotationAssertion( "hyperhomocysteinaemia"^^xsd:string) AnnotationAssertion( "hyperhomocysteinemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9279"^^xsd:string) AnnotationAssertion(rdfs:label "hyperhomocysteinemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (carbamoyl phosphate synthetase I deficiency disease) AnnotationAssertion(Annotation( "http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency"^^xsd:string) "A urea cycle disorder that involves accumulation of ammonia in the blood. (DO)"^^xsd:string) AnnotationAssertion( "MIM:237300"^^xsd:string) AnnotationAssertion( "EFO:0007193"^^xsd:string) AnnotationAssertion( "GARD:7269"^^xsd:string) AnnotationAssertion( "MESH:D020165"^^xsd:string) AnnotationAssertion( "NCI:C84612"^^xsd:string) AnnotationAssertion( "CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY"^^xsd:string) AnnotationAssertion( "CONGENITAL HYPERAMMONEMIA, TYPE I"^^xsd:string) AnnotationAssertion( "CPS 1 Deficiencies"^^xsd:string) AnnotationAssertion( "CPS 1 Deficiency"^^xsd:string) AnnotationAssertion( "CPS I Deficiencies"^^xsd:string) AnnotationAssertion( "CPS I deficiency"^^xsd:string) AnnotationAssertion( "Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease"^^xsd:string) AnnotationAssertion( "Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)"^^xsd:string) AnnotationAssertion( "Carbamoyl Phosphate Synthetase I Deficiency"^^xsd:string) AnnotationAssertion( "Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To"^^xsd:string) AnnotationAssertion( "Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)"^^xsd:string) AnnotationAssertion( "Carbamoylphosphate Synthetase 1 Deficiency Disease"^^xsd:string) AnnotationAssertion( "Carbamoylphosphate Synthetase I Deficiency Disease"^^xsd:string) AnnotationAssertion( "Carbamyl Phosphate Synthetase (CPS) Deficiency"^^xsd:string) AnnotationAssertion( "Carbamyl Phosphate Synthetase 1 Deficiency Disease"^^xsd:string) AnnotationAssertion( "Carbamyl Phosphate Synthetase Deficiency Disease"^^xsd:string) AnnotationAssertion( "Carbamyl Phosphate Synthetase I Deficiency Disease"^^xsd:string) AnnotationAssertion( "carbamoyl phosphate synthase 1 deficiency"^^xsd:string) AnnotationAssertion( "carbamoyl phosphate synthase 1 deficiency disease"^^xsd:string) AnnotationAssertion( "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9280"^^xsd:string) AnnotationAssertion(rdfs:label "carbamoyl phosphate synthetase I deficiency disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (phenylketonuria) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Phenylketonuria"^^xsd:string) Annotation( "https://www.genome.gov/Genetic-Disorders/Phenylketonuria"^^xsd:string) "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)"^^xsd:string) AnnotationAssertion( "MIM:261600"^^xsd:string) AnnotationAssertion( "GARD:7383"^^xsd:string) AnnotationAssertion( "ICD9CM:270.1"^^xsd:string) AnnotationAssertion( "MESH:D010661"^^xsd:string) AnnotationAssertion( "NCI:C81315"^^xsd:string) AnnotationAssertion( "ORDO:716"^^xsd:string) AnnotationAssertion( "BH4 deficiency"^^xsd:string) AnnotationAssertion( "Folling Disease"^^xsd:string) AnnotationAssertion( "Folling's disease"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninaemia"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism"^^xsd:string) AnnotationAssertion( "Hyperphenylalaninemia, non-pku"^^xsd:string) AnnotationAssertion( "Non Phenylketonuric Hyperphenylalaninemia"^^xsd:string) AnnotationAssertion( "Oligophrenia Phenylpyruvica"^^xsd:string) AnnotationAssertion( "PAH deficiency"^^xsd:string) AnnotationAssertion( "PKU"^^xsd:string) AnnotationAssertion( "atypical PKU"^^xsd:string) AnnotationAssertion( "atypical phenylketonuria"^^xsd:string) AnnotationAssertion( "classical phenylketonuria"^^xsd:string) AnnotationAssertion( "non-phenylketonuric hyperphenylalaninemias"^^xsd:string) AnnotationAssertion( "phenylalanine hydroxylase deficiency"^^xsd:string) AnnotationAssertion( "phenylalanine hydroxylase deficiency disease"^^xsd:string) AnnotationAssertion( "phenylalanine hydroxylase deficiency disease, severe"^^xsd:string) AnnotationAssertion( "phenylalaninemia"^^xsd:string) AnnotationAssertion( "phenylketonuria I"^^xsd:string) AnnotationAssertion( "phenylketonuria II"^^xsd:string) AnnotationAssertion( "phenylketonuria type 2"^^xsd:string) AnnotationAssertion( "phenylketonurias"^^xsd:string) AnnotationAssertion( "tetrahydrobiopterin deficiency"^^xsd:string) AnnotationAssertion( "BH4-DEFICIENT HYPERPHENYLALANINEMIA"^^xsd:string) AnnotationAssertion( "HPA, NON-PKU MILD"^^xsd:string) AnnotationAssertion( "HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT"^^xsd:string) AnnotationAssertion( "HYPERPHENYLALANINEMIA, NON-PKU MILD"^^xsd:string) AnnotationAssertion( "maternal phenylketonuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9281"^^xsd:string) AnnotationAssertion(rdfs:label "phenylketonuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ocular hypertension) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Ocular_hypertension"^^xsd:string) "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001069"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.05"^^xsd:string) AnnotationAssertion( "ICD9CM:365.04"^^xsd:string) AnnotationAssertion( "MESH:D009798"^^xsd:string) AnnotationAssertion( "NCI:C3285"^^xsd:string) AnnotationAssertion( "Suspect Glaucoma"^^xsd:string) AnnotationAssertion( "ocular hypertensions"^^xsd:string) AnnotationAssertion( "suspect glaucomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9282"^^xsd:string) AnnotationAssertion(rdfs:label "ocular hypertension"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (borderline glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/"^^xsd:string) "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H40.00"^^xsd:string) AnnotationAssertion( "ICD9CM:365.00"^^xsd:string) AnnotationAssertion( "preglaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9283"^^xsd:string) AnnotationAssertion(rdfs:label "borderline glaucoma"^^xsd:string) SubClassOf( ) # Class: (priapism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Priapism"^^xsd:string) Annotation( "http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx"^^xsd:string) "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. (DO)"^^xsd:string) AnnotationAssertion( "GARD:10016"^^xsd:string) AnnotationAssertion( "ICD10CM:N48.3"^^xsd:string) AnnotationAssertion( "ICD9CM:607.3"^^xsd:string) AnnotationAssertion( "MESH:D011317"^^xsd:string) AnnotationAssertion( "NCI:C85022"^^xsd:string) AnnotationAssertion( "mentulagra"^^xsd:string) AnnotationAssertion( "priapisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9286"^^xsd:string) AnnotationAssertion(rdfs:label "priapism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myopathy of extraocular muscle) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.82"^^xsd:string) AnnotationAssertion( "ICD9CM:376.82"^^xsd:string) AnnotationAssertion( "myopathy of extraocular muscles"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:929"^^xsd:string) AnnotationAssertion(rdfs:label "myopathy of extraocular muscle"^^xsd:string) SubClassOf( ) # Class: (cleft lip) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate"^^xsd:string) Annotation( "https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html"^^xsd:string) "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. (DO)"^^xsd:string) AnnotationAssertion( "OMIA:001140"^^xsd:string) AnnotationAssertion( "EFO:0003959"^^xsd:string) AnnotationAssertion( "ICD10CM:Q36"^^xsd:string) AnnotationAssertion( "ICD9CM:749.1"^^xsd:string) AnnotationAssertion( "ICD9CM:749.11"^^xsd:string) AnnotationAssertion( "MESH:D002971"^^xsd:string) AnnotationAssertion( "NCI:C87175"^^xsd:string) AnnotationAssertion( "Cleft Lips"^^xsd:string) AnnotationAssertion( "Cleft lip with or without cleft palate"^^xsd:string) AnnotationAssertion( "Harelip"^^xsd:string) AnnotationAssertion( "Harelips"^^xsd:string) AnnotationAssertion( "cheiloschisis"^^xsd:string) AnnotationAssertion( "complete unilateral cleft lip"^^xsd:string) AnnotationAssertion( "hare lip"^^xsd:string) AnnotationAssertion( "labium leporinum"^^xsd:string) AnnotationAssertion( "CLEFT LIP +/- CLEFT PALATE, AUTOSOMAL DOMINANT"^^xsd:string) AnnotationAssertion( "nonsyndromic cleft lip with or without cleft palate"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9296"^^xsd:string) AnnotationAssertion(rdfs:label "cleft lip"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lip disease) AnnotationAssertion(Annotation( "https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes"^^xsd:string) "A mouth disease located_in the lip. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.0"^^xsd:string) AnnotationAssertion( "ICD9CM:528.5"^^xsd:string) AnnotationAssertion( "MESH:D008047"^^xsd:string) AnnotationAssertion( "NCI:C26818"^^xsd:string) AnnotationAssertion( "disease of lips"^^xsd:string) AnnotationAssertion( "lip diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9297"^^xsd:string) AnnotationAssertion(rdfs:label "lip disease"^^xsd:string) SubClassOf( ) # Class: (myocardium cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "MONDO:0004749"^^xsd:string) AnnotationAssertion( "NCI:C4569"^^xsd:string) AnnotationAssertion( "NCI:C5349"^^xsd:string) AnnotationAssertion( "malignant myocardial tumor"^^xsd:string) AnnotationAssertion( "malignant neoplasm of myocardium"^^xsd:string) AnnotationAssertion( "tumor of myocardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9299"^^xsd:string) AnnotationAssertion(rdfs:label "myocardium cancer"^^xsd:string) SubClassOf( ) # Class: (language disorder) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Language_disorder"^^xsd:string) "A communication disorder that involves the processing of linguistic information. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005425"^^xsd:string) AnnotationAssertion( "MESH:D007806"^^xsd:string) AnnotationAssertion( "NCI:C97155"^^xsd:string) AnnotationAssertion( "acquired language disorder"^^xsd:string) AnnotationAssertion( "acquired language disorders"^^xsd:string) AnnotationAssertion( "language disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:93"^^xsd:string) AnnotationAssertion(rdfs:label "language disorder"^^xsd:string) SubClassOf( ) # Class: (orbital disease) AnnotationAssertion(Annotation( "http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html"^^xsd:string) "An adnexa disease that is located_in the eye socket. (DO)"^^xsd:string) AnnotationAssertion( "DOID:9370"^^xsd:string) AnnotationAssertion( "MESH:D005094"^^xsd:string) AnnotationAssertion( "disease of orbital region"^^xsd:string) AnnotationAssertion( "EFO:0009664"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.9"^^xsd:string) AnnotationAssertion( "ICD9CM:376.9"^^xsd:string) AnnotationAssertion( "MESH:D009916"^^xsd:string) AnnotationAssertion( "NCI:C118763"^^xsd:string) AnnotationAssertion( "NCI:C87114"^^xsd:string) AnnotationAssertion( "exophthalmos"^^xsd:string) AnnotationAssertion( "orbital diseases"^^xsd:string) AnnotationAssertion( "proptoses"^^xsd:string) AnnotationAssertion( "proptosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:930"^^xsd:string) AnnotationAssertion(rdfs:label "orbital disease"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (neurofibroma of the heart) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5359"^^xsd:string) AnnotationAssertion( "neurofibroma of heart"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9300"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibroma of the heart"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (splenic tuberculosis) AnnotationAssertion(Annotation( "https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf"^^xsd:string) "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007492"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.85"^^xsd:string) AnnotationAssertion( "ICD9CM:017.7"^^xsd:string) AnnotationAssertion( "MESH:D014400"^^xsd:string) AnnotationAssertion( "Splenic Tuberculoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9305"^^xsd:string) AnnotationAssertion(rdfs:label "splenic tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mechanical strabismus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.6"^^xsd:string) AnnotationAssertion( "ICD9CM:378.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9306"^^xsd:string) AnnotationAssertion(rdfs:label "mechanical strabismus"^^xsd:string) SubClassOf( ) # Class: (rectal prolapse) AnnotationAssertion(Annotation( "MESH:D012005"^^xsd:string) "Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum."^^xsd:string) AnnotationAssertion( "RDO:0006461"^^xsd:string) AnnotationAssertion( "ICD10CM:K62.3"^^xsd:string) AnnotationAssertion( "ICD9CM:569.1"^^xsd:string) AnnotationAssertion( "MESH:D012005"^^xsd:string) AnnotationAssertion( "NCI:C34973"^^xsd:string) AnnotationAssertion( "anus prolapse"^^xsd:string) AnnotationAssertion( "anus prolapses"^^xsd:string) AnnotationAssertion( "rectal prolapses"^^xsd:string) AnnotationAssertion( "rectum procidentia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9307"^^xsd:string) AnnotationAssertion(rdfs:label "rectal prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (monieziasis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15287174"^^xsd:string) "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001372"^^xsd:string) AnnotationAssertion( "MESH:D008989"^^xsd:string) AnnotationAssertion( "monieziases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:931"^^xsd:string) AnnotationAssertion(rdfs:label "monieziasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nasal cavity benign neoplasm) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136"^^xsd:string) "A respiratory system benign neoplasm that arises from the nasal cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4603"^^xsd:string) AnnotationAssertion( "benign nasal cavity tumor"^^xsd:string) AnnotationAssertion( "benign neoplasm of the nasal cavity"^^xsd:string) AnnotationAssertion( "benign tumor of nasal cavity"^^xsd:string) AnnotationAssertion( "neoplasm of nasal cavity"^^xsd:string) AnnotationAssertion( "tumor of the nasal cavity"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9310"^^xsd:string) AnnotationAssertion(rdfs:label "nasal cavity benign neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic ethmoiditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A ethmoid sinusitis which lasts for 12 weeks or more. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J32.2"^^xsd:string) AnnotationAssertion( "ICD9CM:473.2"^^xsd:string) AnnotationAssertion( "NCI:C34472"^^xsd:string) AnnotationAssertion( "chronic ethmoid sinusitis"^^xsd:string) AnnotationAssertion( "chronic ethmoidal sinusitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9312"^^xsd:string) AnnotationAssertion(rdfs:label "chronic ethmoiditis"^^xsd:string) SubClassOf( ) # Class: (lymphangitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lymphangitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis"^^xsd:string) "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007351"^^xsd:string) AnnotationAssertion( "ICD10CM:I89.1"^^xsd:string) AnnotationAssertion( "ICD9CM:457.2"^^xsd:string) AnnotationAssertion( "MESH:D008205"^^xsd:string) AnnotationAssertion( "NCI:C34790"^^xsd:string) AnnotationAssertion( "lymphangitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9317"^^xsd:string) AnnotationAssertion(rdfs:label "lymphangitis"^^xsd:string) SubClassOf( ) # Class: (scotoma) AnnotationAssertion(Annotation( "MESH:D012607"^^xsd:string) "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions."^^xsd:string) AnnotationAssertion( "ICD10CM:H53.42"^^xsd:string) AnnotationAssertion( "ICD10CM:H53.45"^^xsd:string) AnnotationAssertion( "ICD9CM:368.42"^^xsd:string) AnnotationAssertion( "ICD9CM:368.44"^^xsd:string) AnnotationAssertion( "MESH:D012607"^^xsd:string) AnnotationAssertion( "Arcuate Scotoma"^^xsd:string) AnnotationAssertion( "Arcuate Scotomas"^^xsd:string) AnnotationAssertion( "Bjerrum Scotoma"^^xsd:string) AnnotationAssertion( "Bjerrum Scotomas"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193673000"^^xsd:string) "Blind spot area scotoma"^^xsd:string) AnnotationAssertion( "Central Scotoma"^^xsd:string) AnnotationAssertion( "Central Scotomas"^^xsd:string) AnnotationAssertion( "Centrocecal Scotoma"^^xsd:string) AnnotationAssertion( "Centrocecal Scotomas"^^xsd:string) AnnotationAssertion( "Enlarged blind spot"^^xsd:string) AnnotationAssertion( "Paracecal Scotoma"^^xsd:string) AnnotationAssertion( "Paracecal Scotomas"^^xsd:string) AnnotationAssertion( "Paracentral Scotoma"^^xsd:string) AnnotationAssertion( "Paracentral Scotomas"^^xsd:string) AnnotationAssertion( "Peripheral Scotoma"^^xsd:string) AnnotationAssertion( "Peripheral Scotomas"^^xsd:string) AnnotationAssertion( "Ring Scotoma"^^xsd:string) AnnotationAssertion( "Ring Scotomas"^^xsd:string) AnnotationAssertion( "Scintillating Scotoma"^^xsd:string) AnnotationAssertion( "Scintillating Scotomas"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:368.42"^^xsd:string) "Scotoma of blind spot area"^^xsd:string) AnnotationAssertion( "Scotomas"^^xsd:string) AnnotationAssertion( "Sector or arcuate visual field defects"^^xsd:string) AnnotationAssertion( "altitudinal scotoma"^^xsd:string) AnnotationAssertion( "altitudinal scotomas"^^xsd:string) AnnotationAssertion( "enlarged angioscotoma"^^xsd:string) AnnotationAssertion( "enlarged paracaecal scotoma"^^xsd:string) AnnotationAssertion( "generalized visual field contraction or constriction"^^xsd:string) AnnotationAssertion( "sector scotoma"^^xsd:string) AnnotationAssertion( "sector scotomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9335"^^xsd:string) AnnotationAssertion(rdfs:label "scotoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bestiality) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:302.1"^^xsd:string) AnnotationAssertion( "zoophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9336"^^xsd:string) AnnotationAssertion(rdfs:label "bestiality"^^xsd:string) SubClassOf( ) # Class: (urethral false passage) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N36.5"^^xsd:string) AnnotationAssertion( "ICD9CM:599.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9339"^^xsd:string) AnnotationAssertion(rdfs:label "urethral false passage"^^xsd:string) SubClassOf( ) # Class: (viral infectious disease) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec17/ch198/ch198a.html"^^xsd:string) "A disease by infectious agent that results in infection, has_material_basis_in Viruses. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000763"^^xsd:string) AnnotationAssertion( "ICD10CM:A94"^^xsd:string) AnnotationAssertion( "ICD10CM:B34.9"^^xsd:string) AnnotationAssertion( "ICD9CM:060-066.99"^^xsd:string) AnnotationAssertion( "MESH:D014777"^^xsd:string) AnnotationAssertion( "NCI:C3439"^^xsd:string) AnnotationAssertion( "NCI:C34396"^^xsd:string) AnnotationAssertion( "Viral Disease"^^xsd:string) AnnotationAssertion( "Viral Infection"^^xsd:string) AnnotationAssertion( "Viral Infectious Diseases"^^xsd:string) AnnotationAssertion( "Virus Disease"^^xsd:string) AnnotationAssertion( "Virus Diseases"^^xsd:string) AnnotationAssertion( "viral diseases"^^xsd:string) AnnotationAssertion( "viral infections"^^xsd:string) AnnotationAssertion( "virus infection"^^xsd:string) AnnotationAssertion( "virus infections"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:934"^^xsd:string) AnnotationAssertion( ) AnnotationAssertion(rdfs:label "viral infectious disease"^^xsd:string) SubClassOf( ) # Class: (urethral diverticulum) AnnotationAssertion( "A pouch or sac-like protrusion in the urethra. (NCI)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N36.1"^^xsd:string) AnnotationAssertion( "ICD9CM:599.2"^^xsd:string) AnnotationAssertion( "NCI:C39861"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9341"^^xsd:string) AnnotationAssertion(rdfs:label "urethral diverticulum"^^xsd:string) SubClassOf( ) # Class: (Taylor's syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:625.5"^^xsd:string) AnnotationAssertion( "RDO:9004558"^^xsd:string) AnnotationAssertion( "Congestion-fibrosis syndrome"^^xsd:string) AnnotationAssertion( "Taylor syndrome"^^xsd:string) AnnotationAssertion( "pelvic congestion syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9346"^^xsd:string) AnnotationAssertion(rdfs:label "Taylor's syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (carotid artery dissection) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I77.71"^^xsd:string) AnnotationAssertion( "ICD9CM:443.21"^^xsd:string) AnnotationAssertion( "NCI:C125662"^^xsd:string) AnnotationAssertion( "dissection of carotid artery"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9348"^^xsd:string) AnnotationAssertion(rdfs:label "carotid artery dissection"^^xsd:string) SubClassOf( ) # Class: (diabetes mellitus) AnnotationAssertion(Annotation( "http://www.who.int/diabetes/action_online/basics/en/"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Diabetes_mellitus"^^xsd:string) Annotation( "https://medlineplus.gov/diabetes.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9686693"^^xsd:string) "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO)"^^xsd:string) AnnotationAssertion( "DOID:0081062"^^xsd:string) AnnotationAssertion( "EFO:0000400"^^xsd:string) AnnotationAssertion( "EFO:1001511"^^xsd:string) AnnotationAssertion( "ICD10CM:E08-E13"^^xsd:string) AnnotationAssertion( "ICD9CM:250"^^xsd:string) AnnotationAssertion( "MESH:D003920"^^xsd:string) AnnotationAssertion( "NCI:C2985"^^xsd:string) AnnotationAssertion( "diabetes"^^xsd:string) AnnotationAssertion( "monogenic diabetes"^^xsd:string) AnnotationAssertion( "transient neonatal diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9351"^^xsd:string) AnnotationAssertion(rdfs:label "diabetes mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (type 2 diabetes mellitus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diabetes"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2"^^xsd:string) "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. (DO)"^^xsd:string) AnnotationAssertion( "MIM:125853"^^xsd:string) AnnotationAssertion( "EFO:0001360"^^xsd:string) AnnotationAssertion( "EFO:0010164"^^xsd:string) AnnotationAssertion( "ICD10CM:E11"^^xsd:string) AnnotationAssertion( "MESH:D003924"^^xsd:string) AnnotationAssertion( "MONDO:0005148"^^xsd:string) AnnotationAssertion( "NCI:C26747"^^xsd:string) AnnotationAssertion( "Diabetes Mellitus, Type II"^^xsd:string) AnnotationAssertion( "Diabetes mellitus with hyperinsulinemia"^^xsd:string) AnnotationAssertion( "Diabetes mellitus, noninsulin-dependent, late-onset"^^xsd:string) AnnotationAssertion( "Ketosis-Resistant Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "Maturity Onset Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "Maturity-Onset Diabetes"^^xsd:string) AnnotationAssertion( "NIDDM"^^xsd:string) AnnotationAssertion( "Non-Insulin-Dependent Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "Noninsulin-Dependent Diabetes Mellitus"^^xsd:string) AnnotationAssertion( "T2D"^^xsd:string) AnnotationAssertion( "adult-onset diabetes mellitus"^^xsd:string) AnnotationAssertion( "insulin-resistant diabetes mellitus"^^xsd:string) AnnotationAssertion( "slow-onset diabetes mellitus"^^xsd:string) AnnotationAssertion( "stable diabetes mellitus"^^xsd:string) AnnotationAssertion( "type 2 diabetes"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, NONINSULIN-DEPENDENT, WITH ACANTHOSIS NIGRICANS AND HYPERTENSION"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, TYPE II, DIGENIC"^^xsd:string) AnnotationAssertion( "INSULIN RESISTANCE, SEVERE, DIGENIC"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS TYPE 2, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "NEUROD1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UCP3 polymorphism G/A"^^xsd:string) AnnotationAssertion( "diabetes mellitus type 2, protection against"^^xsd:string) AnnotationAssertion( "noninsulin-dependent diabetes mellitus, association with"^^xsd:string) AnnotationAssertion( "DOID:9352"^^xsd:string) AnnotationAssertion(rdfs:label "type 2 diabetes mellitus"^^xsd:string) SubClassOf( ) # Class: (fibular collateral ligament bursitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:726.63"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9358"^^xsd:string) AnnotationAssertion(rdfs:label "fibular collateral ligament bursitis"^^xsd:string) SubClassOf( ) # Class: (brain disease) AnnotationAssertion(Annotation( "https://medlineplus.gov/braindiseases.html"^^xsd:string) "A central nervous system disease that is located_in the brain. (DO)"^^xsd:string) AnnotationAssertion( "MIM:614212"^^xsd:string) AnnotationAssertion( "EFO:0005534"^^xsd:string) AnnotationAssertion( "EFO:0005774"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.40"^^xsd:string) AnnotationAssertion( "ICD10CM:G93.9"^^xsd:string) AnnotationAssertion( "ICD9CM:348.30"^^xsd:string) AnnotationAssertion( "ICD9CM:348.9"^^xsd:string) AnnotationAssertion( "MESH:D001927"^^xsd:string) AnnotationAssertion( "MIM:PS610551"^^xsd:string) AnnotationAssertion( "MIM:PS614388"^^xsd:string) AnnotationAssertion( "NCI:C26920"^^xsd:string) AnnotationAssertion( "NCI:C96413"^^xsd:string) AnnotationAssertion( "brain diseases"^^xsd:string) AnnotationAssertion( "brain disorder"^^xsd:string) AnnotationAssertion( "brain disorders"^^xsd:string) AnnotationAssertion( "central nervous system intracranial disorders"^^xsd:string) AnnotationAssertion( "encephalon disease"^^xsd:string) AnnotationAssertion( "encephalon diseases"^^xsd:string) AnnotationAssertion( "encephalopathies"^^xsd:string) AnnotationAssertion( "encephalopathy"^^xsd:string) AnnotationAssertion( "intracranial CNS disorder"^^xsd:string) AnnotationAssertion( "intracranial CNS disorders"^^xsd:string) AnnotationAssertion( "IIAE4"^^xsd:string) AnnotationAssertion( "INFANTILE ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "NEONATAL ENCEPHALOPATHY"^^xsd:string) AnnotationAssertion( "delayed encephalopathy after acute carbon monoxide poisoning"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4"^^xsd:string) AnnotationAssertion( "DOID:936"^^xsd:string) AnnotationAssertion(rdfs:label "brain disease"^^xsd:string) SubClassOf( ) # Class: (intrinsic asthma) AnnotationAssertion(Annotation( "http://www.aafa.org/display.cfm?id=8&sub=17"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/"^^xsd:string) "A chronic asthma that is triggered by factors not attributable to allergies. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:493.1"^^xsd:string) AnnotationAssertion( "non-atopic asthma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9360"^^xsd:string) AnnotationAssertion(rdfs:label "intrinsic asthma"^^xsd:string) SubClassOf( ) # Class: (status asthmaticus) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK526070/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/11399724"^^xsd:string) "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008590"^^xsd:string) AnnotationAssertion( "ICD9CM:493.91"^^xsd:string) AnnotationAssertion( "MESH:D013224"^^xsd:string) AnnotationAssertion( "NCI:C122577"^^xsd:string) AnnotationAssertion( "Asthmatic Crises"^^xsd:string) AnnotationAssertion( "Asthmatic Crisis"^^xsd:string) AnnotationAssertion( "Asthmatic Shock"^^xsd:string) AnnotationAssertion( "Asthmatic Shocks"^^xsd:string) AnnotationAssertion( "asthma with status asthmaticus"^^xsd:string) AnnotationAssertion( "severe asthma attack"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9362"^^xsd:string) AnnotationAssertion(rdfs:label "status asthmaticus"^^xsd:string) SubClassOf( ) # Class: (vesiculitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N49.0"^^xsd:string) AnnotationAssertion( "ICD9CM:608.0"^^xsd:string) AnnotationAssertion( "RDO:9004661"^^xsd:string) AnnotationAssertion( "seminal vesiculitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9365"^^xsd:string) AnnotationAssertion(rdfs:label "vesiculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (keratoconjunctivitis) AnnotationAssertion(Annotation( "MESH:D007637"^^xsd:string) "Simultaneous inflammation of the cornea and conjunctiva."^^xsd:string) AnnotationAssertion( "ICD10CM:H16.2"^^xsd:string) AnnotationAssertion( "ICD9CM:370.40"^^xsd:string) AnnotationAssertion( "MESH:D007637"^^xsd:string) AnnotationAssertion( "NCI:C34744"^^xsd:string) AnnotationAssertion( "RDO:0005930"^^xsd:string) AnnotationAssertion( "Keratoconjunctivitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9368"^^xsd:string) AnnotationAssertion(rdfs:label "keratoconjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbital plasma cell granuloma) AnnotationAssertion(Annotation( "MESH:D016727"^^xsd:string) "A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)."^^xsd:string) AnnotationAssertion( "EFO:1001077"^^xsd:string) AnnotationAssertion( "MESH:D016727"^^xsd:string) AnnotationAssertion( "Inflammatory Pseudotumor of Orbit"^^xsd:string) AnnotationAssertion( "Orbital Inflammatory Pseudotumor"^^xsd:string) AnnotationAssertion( "Orbital Inflammatory Pseudotumors"^^xsd:string) AnnotationAssertion( "Orbital Pseudotumor"^^xsd:string) AnnotationAssertion( "Orbital Pseudotumors"^^xsd:string) AnnotationAssertion( "orbital myositis"^^xsd:string) AnnotationAssertion( "pseudotumor of orbit"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9369"^^xsd:string) AnnotationAssertion(rdfs:label "orbital plasma cell granuloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (postural kyphosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Kyphosis"^^xsd:string) Annotation( "http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html"^^xsd:string) Annotation( "http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes"^^xsd:string) "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. (DO)"^^xsd:string) AnnotationAssertion( "mtutaj"^^xsd:string) AnnotationAssertion( "2023-07-21T10:11:59Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9373"^^xsd:string) AnnotationAssertion(rdfs:label "postural kyphosis"^^xsd:string) SubClassOf( ) # Class: (Fuchs' heterochromic uveitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis"^^xsd:string) "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:6791"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.81"^^xsd:string) AnnotationAssertion( "ICD9CM:364.21"^^xsd:string) AnnotationAssertion( "Fuch's Heterochromic iridocyclitis"^^xsd:string) AnnotationAssertion( "Fuchs uveitis syndrome"^^xsd:string) AnnotationAssertion( "Fuchs' heterochromic cyclitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9375"^^xsd:string) AnnotationAssertion(rdfs:label "Fuchs' heterochromic uveitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (glaucomatocyclitic crisis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:10737"^^xsd:string) AnnotationAssertion( "ICD9CM:364.22"^^xsd:string) AnnotationAssertion( "RDO:9003092"^^xsd:string) AnnotationAssertion( "Posner-Schlossman Syndrome (PSS)"^^xsd:string) AnnotationAssertion( "Posner-Schlossman syndrome"^^xsd:string) AnnotationAssertion( "Terrien-Viel syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9378"^^xsd:string) AnnotationAssertion(rdfs:label "glaucomatocyclitic crisis"^^xsd:string) SubClassOf( ) # Class: (iridocyclitis) AnnotationAssertion(Annotation( "MESH:D015863"^^xsd:string) "Acute or chronic inflammation of the iris and ciliary body characterized by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision."^^xsd:string) AnnotationAssertion( "ICD10CM:H20.01"^^xsd:string) AnnotationAssertion( "ICD9CM:364.01"^^xsd:string) AnnotationAssertion( "ICD9CM:364.2"^^xsd:string) AnnotationAssertion( "MESH:D015863"^^xsd:string) AnnotationAssertion( "heterochromic cyclitides"^^xsd:string) AnnotationAssertion( "heterochromic cyclitis"^^xsd:string) AnnotationAssertion( "iridocyclitides"^^xsd:string) AnnotationAssertion( "primary iridocyclitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9383"^^xsd:string) AnnotationAssertion(rdfs:label "iridocyclitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (gonococcal iridocyclitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A54.32"^^xsd:string) AnnotationAssertion( "ICD9CM:098.41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9384"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal iridocyclitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lens-induced iridocyclitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.2"^^xsd:string) AnnotationAssertion( "ICD9CM:364.23"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9388"^^xsd:string) AnnotationAssertion(rdfs:label "lens-induced iridocyclitis"^^xsd:string) SubClassOf( ) # Class: (infectious anterior uveitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H20.03"^^xsd:string) AnnotationAssertion( "ICD9CM:364.03"^^xsd:string) AnnotationAssertion( "RDO:9003095"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:193487008"^^xsd:string) "secondary infected iridocyclitis"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:364.03"^^xsd:string) "secondary iridocyclitis, infectious"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9389"^^xsd:string) AnnotationAssertion(rdfs:label "infectious anterior uveitis"^^xsd:string) SubClassOf( ) # Class: (tracheitis) AnnotationAssertion(Annotation( "http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh"^^xsd:string) "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007518"^^xsd:string) AnnotationAssertion( "ICD10CM:J04.1"^^xsd:string) AnnotationAssertion( "ICD9CM:464.1"^^xsd:string) AnnotationAssertion( "MESH:D014136"^^xsd:string) AnnotationAssertion( "NCI:C78643"^^xsd:string) AnnotationAssertion( "acute tracheitis"^^xsd:string) AnnotationAssertion( "chronic tracheitis"^^xsd:string) AnnotationAssertion( "tracheitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9392"^^xsd:string) AnnotationAssertion(rdfs:label "tracheitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (croup) AnnotationAssertion(Annotation( "http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup"^^xsd:string) "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007227"^^xsd:string) AnnotationAssertion( "ICD10CM:J05.0"^^xsd:string) AnnotationAssertion( "ICD9CM:464.4"^^xsd:string) AnnotationAssertion( "MESH:D003440"^^xsd:string) AnnotationAssertion( "NCI:C26735"^^xsd:string) AnnotationAssertion( "Croup syndrome"^^xsd:string) AnnotationAssertion( "Laryngotracheobronchitis"^^xsd:string) AnnotationAssertion( "Postintubation Croup"^^xsd:string) AnnotationAssertion( "Spasmodic Croup"^^xsd:string) AnnotationAssertion( "Viral Croup"^^xsd:string) AnnotationAssertion( "acute laryngotracheobronchitis"^^xsd:string) AnnotationAssertion( "acute obstructive laryngitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9395"^^xsd:string) AnnotationAssertion(rdfs:label "croup"^^xsd:string) SubClassOf( ) # Class: (acute laryngitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Laryngitis"^^xsd:string) "A laryngitis which lasts less than a few days. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J04.0"^^xsd:string) AnnotationAssertion( "ICD9CM:464.0"^^xsd:string) AnnotationAssertion( "ICD9CM:464.01"^^xsd:string) AnnotationAssertion( "NCI:C26688"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9396"^^xsd:string) AnnotationAssertion(rdfs:label "acute laryngitis"^^xsd:string) SubClassOf( ) # Class: (epiglottitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Epiglottitis"^^xsd:string) "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007261"^^xsd:string) AnnotationAssertion( "ICD10CM:J05.1"^^xsd:string) AnnotationAssertion( "ICD10CM:J05.10"^^xsd:string) AnnotationAssertion( "ICD9CM:464.3"^^xsd:string) AnnotationAssertion( "MESH:D004826"^^xsd:string) AnnotationAssertion( "NCI:C116007"^^xsd:string) AnnotationAssertion( "Epiglottitides"^^xsd:string) AnnotationAssertion( "acute epiglottitis"^^xsd:string) AnnotationAssertion( "acute epiglottitis and supraglottitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9398"^^xsd:string) AnnotationAssertion(rdfs:label "epiglottitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (epididymo-orchitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N45.3"^^xsd:string) AnnotationAssertion( "ICD9CM:604"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9401"^^xsd:string) AnnotationAssertion(rdfs:label "epididymo-orchitis"^^xsd:string) SubClassOf( ) # Class: (epididymitis) AnnotationAssertion(Annotation( "MESH:D004823"^^xsd:string) "Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD."^^xsd:string) AnnotationAssertion( "ICD10CM:N45.1"^^xsd:string) AnnotationAssertion( "MESH:D004823"^^xsd:string) AnnotationAssertion( "epididymitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9402"^^xsd:string) AnnotationAssertion(rdfs:label "epididymitis"^^xsd:string) SubClassOf( ) # Class: (hypopituitarism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypopituitarism"^^xsd:string) "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0001380"^^xsd:string) AnnotationAssertion( "GARD:2917"^^xsd:string) AnnotationAssertion( "MESH:D007018"^^xsd:string) AnnotationAssertion( "NCI:C62591"^^xsd:string) AnnotationAssertion( "ORDO:95494"^^xsd:string) AnnotationAssertion( "adenohypophyseal hyposecretion"^^xsd:string) AnnotationAssertion( "anterior pituitary hyposecretion syndrome"^^xsd:string) AnnotationAssertion( "pituitary hormone deficiency"^^xsd:string) AnnotationAssertion( "pituitary hypofunction"^^xsd:string) AnnotationAssertion( "pituitary insufficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9406"^^xsd:string) AnnotationAssertion(rdfs:label "hypopituitarism"^^xsd:string) SubClassOf( ) # Class: (strictly posterior acute myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:410.60"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9407"^^xsd:string) AnnotationAssertion(rdfs:label "strictly posterior acute myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (acute myocardial infarction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008583"^^xsd:string) AnnotationAssertion( "ICD10CM:I21"^^xsd:string) AnnotationAssertion( "ICD9CM:410"^^xsd:string) AnnotationAssertion( "NCI:C35204"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9408"^^xsd:string) AnnotationAssertion(rdfs:label "acute myocardial infarction"^^xsd:string) SubClassOf( ) # Class: (diabetes insipidus) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/26913870/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/27156759/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/28476225/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/"^^xsd:string) "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E23.2"^^xsd:string) AnnotationAssertion( "ICD9CM:253.5"^^xsd:string) AnnotationAssertion( "MESH:D003919"^^xsd:string) AnnotationAssertion( "NCI:C43263"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9409"^^xsd:string) AnnotationAssertion(rdfs:label "diabetes insipidus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (panhypopituitarism) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27828722"^^xsd:string) "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:253.2"^^xsd:string) AnnotationAssertion( "MESH:C580003"^^xsd:string) AnnotationAssertion( "MIM:PS613038"^^xsd:string) AnnotationAssertion( "NCI:C110940"^^xsd:string) AnnotationAssertion( "ORDO:90695"^^xsd:string) AnnotationAssertion( "Simmond's disease"^^xsd:string) AnnotationAssertion( "Simmonds' disease"^^xsd:string) AnnotationAssertion( "combined pituitary hormone deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9410"^^xsd:string) AnnotationAssertion(rdfs:label "panhypopituitarism"^^xsd:string) SubClassOf( ) # Class: (allergic asthma) AnnotationAssertion(Annotation( "http://www.aafa.org/display.cfm?id=8&sub=16"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK526018/"^^xsd:string) "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2016-08-22T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0010638"^^xsd:string) AnnotationAssertion( "ICD10CM:J45"^^xsd:string) AnnotationAssertion( "ICD9CM:493.0"^^xsd:string) AnnotationAssertion( "allergic atopic asthma"^^xsd:string) AnnotationAssertion( "extrinsic asthma with acute exacerbation"^^xsd:string) AnnotationAssertion( "extrinsic asthma with status asthmaticus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "atopic asthma"^^xsd:string) AnnotationAssertion( "DOID:9415"^^xsd:string) AnnotationAssertion(rdfs:label "allergic asthma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blepharitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Blepharitis"^^xsd:string) "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009536"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.0"^^xsd:string) AnnotationAssertion( "ICD9CM:373.0"^^xsd:string) AnnotationAssertion( "ICD9CM:373.4"^^xsd:string) AnnotationAssertion( "MESH:D001762"^^xsd:string) AnnotationAssertion( "NCI:C112183"^^xsd:string) AnnotationAssertion( "blepharitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9423"^^xsd:string) AnnotationAssertion(rdfs:label "blepharitis"^^xsd:string) SubClassOf( ) # Class: (hypertensive encephalopathy) AnnotationAssertion(Annotation( "MESH:D020343"^^xsd:string) "Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE."^^xsd:string) AnnotationAssertion( "EFO:1000976"^^xsd:string) AnnotationAssertion( "ICD10CM:I67.4"^^xsd:string) AnnotationAssertion( "ICD9CM:437.2"^^xsd:string) AnnotationAssertion( "MESH:D020343"^^xsd:string) AnnotationAssertion( "NCI:C3503"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9427"^^xsd:string) AnnotationAssertion(rdfs:label "hypertensive encephalopathy"^^xsd:string) SubClassOf( ) # Class: (intracranial hypertension) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Brain_herniation"^^xsd:string) Annotation( "https://en.wikipedia.org/wiki/Intracranial_pressure"^^xsd:string) "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000992"^^xsd:string) AnnotationAssertion( "MESH:D019586"^^xsd:string) AnnotationAssertion( "NCI:C84791"^^xsd:string) AnnotationAssertion( "Elevated Intracranial Pressure"^^xsd:string) AnnotationAssertion( "ICP (intracranial pressure) elevation"^^xsd:string) AnnotationAssertion( "ICP (intracranial pressure) increase"^^xsd:string) AnnotationAssertion( "elevated ICP (intracranial pressure)"^^xsd:string) AnnotationAssertion( "intracranial pressure increase"^^xsd:string) AnnotationAssertion( "raised intracranial pressure"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9428"^^xsd:string) AnnotationAssertion(rdfs:label "intracranial hypertension"^^xsd:string) SubClassOf( ) # Class: (renal glycosuria) AnnotationAssertion(Annotation( "MESH:D006030"^^xsd:string) "An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene."^^xsd:string) AnnotationAssertion( "MIM:233100"^^xsd:string) AnnotationAssertion( "EFO:1001151"^^xsd:string) AnnotationAssertion( "GARD:7548"^^xsd:string) AnnotationAssertion( "ICD9CM:271.4"^^xsd:string) AnnotationAssertion( "MESH:D006030"^^xsd:string) AnnotationAssertion( "FAMILIAL RENAL GLUCOSURIA"^^xsd:string) AnnotationAssertion( "GLYS"^^xsd:string) AnnotationAssertion( "GLYS1"^^xsd:string) AnnotationAssertion( "SLC5A2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "renal diabetes"^^xsd:string) AnnotationAssertion( "renal glucosuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9432"^^xsd:string) AnnotationAssertion(rdfs:label "renal glycosuria"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic cholangitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35335"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9439"^^xsd:string) AnnotationAssertion(rdfs:label "chronic cholangitis"^^xsd:string) SubClassOf( ) # Class: (cervical Mullerian papilloma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22935300"^^xsd:string) "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. (DO)"^^xsd:string) AnnotationAssertion( "NCI:C40215"^^xsd:string) AnnotationAssertion( "cervical Muellerian papilloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9442"^^xsd:string) AnnotationAssertion(rdfs:label "cervical Mullerian papilloma"^^xsd:string) SubClassOf( ) # Class: (cervix squamous papilloma) AnnotationAssertion(Annotation( "http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/13005077"^^xsd:string) "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6342"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C6342"^^xsd:string) "squamous papilloma of the cervix uteri"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9445"^^xsd:string) AnnotationAssertion(rdfs:label "cervix squamous papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cholangitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cholangitis"^^xsd:string) "A bile duct disease that is an inflammation of the bile duct. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:576.1"^^xsd:string) AnnotationAssertion( "MESH:D002761"^^xsd:string) AnnotationAssertion( "NCI:C26718"^^xsd:string) AnnotationAssertion( "cholangitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9446"^^xsd:string) AnnotationAssertion(rdfs:label "cholangitis"^^xsd:string) SubClassOf( ) # Class: (steatotic liver disease) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/27099587/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/37364816/"^^xsd:string) "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003934"^^xsd:string) AnnotationAssertion( "ICD10CM:K70.0"^^xsd:string) AnnotationAssertion( "ICD9CM:571.0"^^xsd:string) AnnotationAssertion( "MESH:D005234"^^xsd:string) AnnotationAssertion( "MONDO:0004790"^^xsd:string) AnnotationAssertion( "NCI:C150596"^^xsd:string) AnnotationAssertion( "SLD"^^xsd:string) AnnotationAssertion( "fatty change of liver"^^xsd:string) AnnotationAssertion( "fatty liver"^^xsd:string) AnnotationAssertion( "fatty liver disease"^^xsd:string) AnnotationAssertion( "hepatic lipidosis"^^xsd:string) AnnotationAssertion( "hepatic steatosis"^^xsd:string) AnnotationAssertion( "hepatosteatosis"^^xsd:string) AnnotationAssertion( "liver steatoses"^^xsd:string) AnnotationAssertion( "liver steatosis"^^xsd:string) AnnotationAssertion( "steatohepatitides"^^xsd:string) AnnotationAssertion( "steatohepatitis"^^xsd:string) AnnotationAssertion( "steatosis of liver"^^xsd:string) AnnotationAssertion( "visceral steatoses"^^xsd:string) AnnotationAssertion( "visceral steatosis"^^xsd:string) AnnotationAssertion( "cryptogenic steatotic liver disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "FATTY LIVER DISEASE, PROTECTION FROM"^^xsd:string) AnnotationAssertion( "HSD17B13 POLYMORPHISM"^^xsd:string) AnnotationAssertion( "DOID:9452"^^xsd:string) AnnotationAssertion(rdfs:label "steatotic liver disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lipid storage disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Lipidoses"^^xsd:string) "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0008527"^^xsd:string) AnnotationAssertion( "ICD10CM:E75.6"^^xsd:string) AnnotationAssertion( "ICD9CM:272.7"^^xsd:string) AnnotationAssertion( "ICD9CM:272.8"^^xsd:string) AnnotationAssertion( "MESH:D008064"^^xsd:string) AnnotationAssertion( "Lipidoses"^^xsd:string) AnnotationAssertion( "Lipidosis"^^xsd:string) AnnotationAssertion( "Lipoidosis"^^xsd:string) AnnotationAssertion( "inborn lipid storage disorder"^^xsd:string) AnnotationAssertion( "lipoid storage diseas"^^xsd:string) AnnotationAssertion( "steatosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9455"^^xsd:string) AnnotationAssertion(rdfs:label "lipid storage disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (isthmus cancer) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:182.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9459"^^xsd:string) AnnotationAssertion(rdfs:label "isthmus cancer"^^xsd:string) SubClassOf( ) # Class: (dientamoebiasis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm"^^xsd:string) "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D004030"^^xsd:string) AnnotationAssertion( "dientamoebiases"^^xsd:string) AnnotationAssertion( "intestinal trichomoniasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:946"^^xsd:string) AnnotationAssertion(rdfs:label "dientamoebiasis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (uterine corpus cancer) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Uterine_cancer"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Uterus"^^xsd:string) "A uterine cancer that is located_in the uterine corpus. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007532"^^xsd:string) AnnotationAssertion( "ICD10CM:C54"^^xsd:string) AnnotationAssertion( "ICD9CM:182"^^xsd:string) AnnotationAssertion( "NCI:C3556"^^xsd:string) AnnotationAssertion( "RDO:9002561"^^xsd:string) AnnotationAssertion( "corpus uteri cancer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9460"^^xsd:string) AnnotationAssertion(rdfs:label "uterine corpus cancer"^^xsd:string) SubClassOf( ) # Class: (exposure keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.21"^^xsd:string) AnnotationAssertion( "ICD9CM:370.34"^^xsd:string) AnnotationAssertion( "RDO:9003236"^^xsd:string) AnnotationAssertion(Annotation( "ICD9CM_2006:370.34"^^xsd:string) "Exposure keratoconjunctivitis"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:14366000"^^xsd:string) "lagophthalmic keratitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9461"^^xsd:string) AnnotationAssertion(rdfs:label "exposure keratitis"^^xsd:string) SubClassOf( ) # Class: (cholesteatoma of external ear) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/10993445"^^xsd:string) Annotation( "http://www.ncbi.nlm.nih.gov/sites/entrez/15763298"^^xsd:string) "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000677"^^xsd:string) AnnotationAssertion( "ICD10CM:H60.4"^^xsd:string) AnnotationAssertion( "ICD9CM:380.21"^^xsd:string) AnnotationAssertion( "external canal cholesteatoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9462"^^xsd:string) AnnotationAssertion(rdfs:label "cholesteatoma of external ear"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (otitis externa) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Otitis_externa"^^xsd:string) "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009560"^^xsd:string) AnnotationAssertion( "ICD9CM:380.1"^^xsd:string) AnnotationAssertion( "MESH:D010032"^^xsd:string) AnnotationAssertion( "NCI:C3299"^^xsd:string) AnnotationAssertion( "external otitides"^^xsd:string) AnnotationAssertion( "external otitis"^^xsd:string) AnnotationAssertion( "swimmer's ear"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9463"^^xsd:string) AnnotationAssertion(rdfs:label "otitis externa"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (nail-patella syndrome) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15416035"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/9590287"^^xsd:string) "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. (DO)"^^xsd:string) AnnotationAssertion( "MIM:161200"^^xsd:string) AnnotationAssertion( "LMX1B-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "GARD:7160"^^xsd:string) AnnotationAssertion( "MESH:D009261"^^xsd:string) AnnotationAssertion( "NCI:C75120"^^xsd:string) AnnotationAssertion( "ORDO:2614"^^xsd:string) AnnotationAssertion( "Fong disease"^^xsd:string) AnnotationAssertion( "Hereditary Onycho-Osteodysplasia"^^xsd:string) AnnotationAssertion( "Hereditary Osteo-Onychodysplasia"^^xsd:string) AnnotationAssertion( "Hereditary Osteo-Onychodysplasias"^^xsd:string) AnnotationAssertion( "NPS"^^xsd:string) AnnotationAssertion( "NPS1"^^xsd:string) AnnotationAssertion( "Onychoosteodysplasia"^^xsd:string) AnnotationAssertion( "Osterreicher Syndrome"^^xsd:string) AnnotationAssertion( "Pelvic Horn Syndrome"^^xsd:string) AnnotationAssertion( "Turner Kieser syndrome"^^xsd:string) AnnotationAssertion( "Turner-Kiser syndrome"^^xsd:string) AnnotationAssertion( "hereditary onychoostedysplasia"^^xsd:string) AnnotationAssertion( "iliac horn syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9467"^^xsd:string) AnnotationAssertion(rdfs:label "nail-patella syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (bacterial meningitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meningitis#Bacterial"^^xsd:string) "A meningitis that has_material_basis_in a bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000831"^^xsd:string) AnnotationAssertion( "GARD:5881"^^xsd:string) AnnotationAssertion( "ICD10CM:G00"^^xsd:string) AnnotationAssertion( "ICD9CM:320"^^xsd:string) AnnotationAssertion( "MESH:D016920"^^xsd:string) AnnotationAssertion( "NCI:C118297"^^xsd:string) AnnotationAssertion( "bacterial meningitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9470"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (meningitis) AnnotationAssertion(Annotation( "http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162"^^xsd:string) "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:322.9"^^xsd:string) AnnotationAssertion( "MESH:D008581"^^xsd:string) AnnotationAssertion( "MONDO:0021108"^^xsd:string) AnnotationAssertion( "NCI:C26828"^^xsd:string) AnnotationAssertion( "meningitides"^^xsd:string) AnnotationAssertion( "pachymeningitides"^^xsd:string) AnnotationAssertion( "pachymeningitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9471"^^xsd:string) AnnotationAssertion(rdfs:label "meningitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (mononeuritis of lower limb) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:355.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9473"^^xsd:string) AnnotationAssertion(rdfs:label "mononeuritis of lower limb"^^xsd:string) SubClassOf( ) # Class: (Sheehan syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:7630"^^xsd:string) AnnotationAssertion( "NCI:C35300"^^xsd:string) AnnotationAssertion( "RDO:9003535"^^xsd:string) AnnotationAssertion(Annotation( "NCI2004_11_17:C35300"^^xsd:string) "Postpartum Hypopituitarism"^^xsd:string) AnnotationAssertion( "Postpartum Panhypopituitarism"^^xsd:string) AnnotationAssertion( "Postpartum Pituitary Insufficiency"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:154703006"^^xsd:string) "Sheehan's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9476"^^xsd:string) AnnotationAssertion(rdfs:label "Sheehan syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pulmonary embolism) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Pulmonary_embolism"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html"^^xsd:string) "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003827"^^xsd:string) AnnotationAssertion( "ICD10CM:I26"^^xsd:string) AnnotationAssertion( "MESH:D011655"^^xsd:string) AnnotationAssertion( "NCI:C50713"^^xsd:string) AnnotationAssertion( "pulmonary artery embolism"^^xsd:string) AnnotationAssertion( "pulmonary embolisms"^^xsd:string) AnnotationAssertion( "pulmonary embolus"^^xsd:string) AnnotationAssertion( "pulmonary thromboembolism"^^xsd:string) AnnotationAssertion( "pulmonary thromboembolisms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9477"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary embolism"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (postpartum depression) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mood_disorder"^^xsd:string) "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007453"^^xsd:string) AnnotationAssertion( "ICD10CM:F53.0"^^xsd:string) AnnotationAssertion( "MESH:D019052"^^xsd:string) AnnotationAssertion( "NCI:C92852"^^xsd:string) AnnotationAssertion( "maternity blues"^^xsd:string) AnnotationAssertion( "post natal depression"^^xsd:string) AnnotationAssertion( "post partum depression"^^xsd:string) AnnotationAssertion( "postnatal depression"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9478"^^xsd:string) AnnotationAssertion(rdfs:label "postpartum depression"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ulcerative blepharitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H01.01"^^xsd:string) AnnotationAssertion( "ICD9CM:373.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9483"^^xsd:string) AnnotationAssertion(rdfs:label "ulcerative blepharitis"^^xsd:string) SubClassOf( ) # Class: (Meckel's diverticulum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Meckel's_diverticulum"^^xsd:string) "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. (DO)"^^xsd:string) AnnotationAssertion( "MIM:155140"^^xsd:string) AnnotationAssertion( "EFO:1001036"^^xsd:string) AnnotationAssertion( "ICD10CM:Q43.0"^^xsd:string) AnnotationAssertion( "ICD9CM:751.0"^^xsd:string) AnnotationAssertion( "MESH:D008467"^^xsd:string) AnnotationAssertion( "NCI:C12264"^^xsd:string) AnnotationAssertion( "Meckel diverticulum"^^xsd:string) AnnotationAssertion( "persistent vitelline duct"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9487"^^xsd:string) AnnotationAssertion(rdfs:label "Meckel's diverticulum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic dacryoadenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.02"^^xsd:string) AnnotationAssertion( "ICD9CM:375.02"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:949"^^xsd:string) AnnotationAssertion(rdfs:label "chronic dacryoadenitis"^^xsd:string) SubClassOf( ) # Class: (unilateral hypoactive labyrinth) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-07T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:386.53"^^xsd:string) AnnotationAssertion( "RDO:9004901"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9496"^^xsd:string) AnnotationAssertion(rdfs:label "unilateral hypoactive labyrinth"^^xsd:string) SubClassOf( ) # Class: (pulmonary eosinophilia) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/"^^xsd:string) "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs. (DO)"^^xsd:string) AnnotationAssertion( "ICD9CM:518.3"^^xsd:string) AnnotationAssertion( "MESH:D011657"^^xsd:string) AnnotationAssertion( "Eosinophilic Pneumonia"^^xsd:string) AnnotationAssertion( "Simple Pulmonary Eosinophilia"^^xsd:string) AnnotationAssertion( "Simple Pulmonary Eosinophilias"^^xsd:string) AnnotationAssertion( "eosinophilic pneumonias"^^xsd:string) AnnotationAssertion( "pulmonary eosinophilias"^^xsd:string) AnnotationAssertion( "tropical eosinophilic pneumonia"^^xsd:string) AnnotationAssertion( "tropical eosinophilic pneumonias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9498"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary eosinophilia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (disseminated eosinophilic collagen disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "RDO:9002619"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9499"^^xsd:string) AnnotationAssertion(rdfs:label "disseminated eosinophilic collagen disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dacryoadenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.0"^^xsd:string) AnnotationAssertion( "ICD9CM:375.0"^^xsd:string) AnnotationAssertion( "NCI:C26971"^^xsd:string) AnnotationAssertion( "dacryoadenitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:950"^^xsd:string) AnnotationAssertion(rdfs:label "dacryoadenitis"^^xsd:string) SubClassOf( ) # Class: (leukocyte disease) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/"^^xsd:string) "A hematopoietic system disease that is located_in white blood cells. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:D72.9"^^xsd:string) AnnotationAssertion( "ICD9CM:288"^^xsd:string) AnnotationAssertion( "MESH:D007960"^^xsd:string) AnnotationAssertion( "leukocyte disorder"^^xsd:string) AnnotationAssertion( "leukocyte disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9500"^^xsd:string) AnnotationAssertion(rdfs:label "leukocyte disease"^^xsd:string) SubClassOf( ) # Class: (chronic eosinophilic pneumonia) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html"^^xsd:string) Annotation( "http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849"^^xsd:string) "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:1130"^^xsd:string) AnnotationAssertion( "GARD:2134"^^xsd:string) AnnotationAssertion( "ICD10CM:J82.81"^^xsd:string) AnnotationAssertion( "NCI:C34471"^^xsd:string) AnnotationAssertion( "cryptogenic pulmonary eosinophilia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9502"^^xsd:string) AnnotationAssertion(rdfs:label "chronic eosinophilic pneumonia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Loeffler syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome"^^xsd:string) "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J82.89"^^xsd:string) AnnotationAssertion( "NCI:C35301"^^xsd:string) AnnotationAssertion( "Loeffler's pneumonia"^^xsd:string) AnnotationAssertion( "Loffler's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9503"^^xsd:string) AnnotationAssertion(rdfs:label "Loeffler syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (benign mammary dysplasia) AnnotationAssertion(Annotation( "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia"^^xsd:string) "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:610.8"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9504"^^xsd:string) AnnotationAssertion(rdfs:label "benign mammary dysplasia"^^xsd:string) SubClassOf( ) # Class: (cannabis abuse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cannabis_%28drug%29"^^xsd:string) "A substance abuse that involves the recurring use of cannabis despite negative consequences. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F12"^^xsd:string) AnnotationAssertion( "ICD10CM:F12.1"^^xsd:string) AnnotationAssertion( "ICD9CM:305.2"^^xsd:string) AnnotationAssertion( "MESH:D002189"^^xsd:string) AnnotationAssertion( "Hashish Abuse"^^xsd:string) AnnotationAssertion( "cannabis related disorder"^^xsd:string) AnnotationAssertion( "cannabis use disorder"^^xsd:string) AnnotationAssertion( "marihuana abuse"^^xsd:string) AnnotationAssertion( "marijuana abuse"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9505"^^xsd:string) AnnotationAssertion(rdfs:label "cannabis abuse"^^xsd:string) SubClassOf( ) # Class: (acute ethmoiditis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A ethmoid sinusitis which lasts for less than 4 weeks. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:J01.2"^^xsd:string) AnnotationAssertion( "ICD9CM:461.2"^^xsd:string) AnnotationAssertion( "acute ethmoid sinusitis"^^xsd:string) AnnotationAssertion( "acute ethmoidal sinus"^^xsd:string) AnnotationAssertion( "acute ethmoidal sinusitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9506"^^xsd:string) AnnotationAssertion(rdfs:label "acute ethmoiditis"^^xsd:string) SubClassOf( ) # Class: (ethmoid sinusitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/sinusitis"^^xsd:string) Annotation( "http://www.merck.com/mmhe/sec19/ch221/ch221i.html"^^xsd:string) "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007264"^^xsd:string) AnnotationAssertion( "MESH:D015521"^^xsd:string) AnnotationAssertion( "NCI:C34597"^^xsd:string) AnnotationAssertion( "ethmoid sinusitides"^^xsd:string) AnnotationAssertion( "ethmoidal sinusitides"^^xsd:string) AnnotationAssertion( "ethmoidal sinusitis"^^xsd:string) AnnotationAssertion( "ethmoiditis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9507"^^xsd:string) AnnotationAssertion(rdfs:label "ethmoid sinusitis"^^xsd:string) SubClassOf( ) # Class: (simple chronic conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.42"^^xsd:string) AnnotationAssertion( "ICD9CM:372.11"^^xsd:string) AnnotationAssertion( "RDO:9003812"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9512"^^xsd:string) AnnotationAssertion(rdfs:label "simple chronic conjunctivitis"^^xsd:string) SubClassOf( ) # Class: (plasma cell leukemia) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Plasma_cell_leukemia"^^xsd:string) Annotation( "https://rarediseases.info.nih.gov/diseases/9373/index"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/"^^xsd:string) "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006475"^^xsd:string) AnnotationAssertion( "GARD:9373"^^xsd:string) AnnotationAssertion( "ICD10CM:C90.1"^^xsd:string) AnnotationAssertion( "ICD9CM:203.1"^^xsd:string) AnnotationAssertion( "ICDO:9733/3"^^xsd:string) AnnotationAssertion( "MESH:D007952"^^xsd:string) AnnotationAssertion( "NCI:C3180"^^xsd:string) AnnotationAssertion( "plasma cell leukaemia"^^xsd:string) AnnotationAssertion( "plasma cell leukemias"^^xsd:string) AnnotationAssertion( "plasmacytic leukaemia"^^xsd:string) AnnotationAssertion( "plasmacytic leukemia"^^xsd:string) AnnotationAssertion( "plasmacytic leukemias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9513"^^xsd:string) AnnotationAssertion(rdfs:label "plasma cell leukemia"^^xsd:string) SubClassOf( ) # Class: (acute dacryoadenitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.01"^^xsd:string) AnnotationAssertion( "ICD9CM:375.01"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:952"^^xsd:string) AnnotationAssertion(rdfs:label "acute dacryoadenitis"^^xsd:string) SubClassOf( ) # Class: (Laron syndrome) AnnotationAssertion(Annotation( "https://ghr.nlm.nih.gov/condition/laron-syndrome"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/8488849"^^xsd:string) "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:262500"^^xsd:string) AnnotationAssertion( "GARD:6859"^^xsd:string) AnnotationAssertion( "ICD10CM:E34.321"^^xsd:string) AnnotationAssertion( "MESH:D046150"^^xsd:string) AnnotationAssertion( "NCI:C130994"^^xsd:string) AnnotationAssertion( "ORDO:633"^^xsd:string) AnnotationAssertion( "Growth Hormone Receptor Deficiency"^^xsd:string) AnnotationAssertion( "Laron Dwarfism"^^xsd:string) AnnotationAssertion( "Laron Type Dwarfism I"^^xsd:string) AnnotationAssertion( "Laron-type isolated somatotropin defect"^^xsd:string) AnnotationAssertion( "growth hormone receptor defect"^^xsd:string) AnnotationAssertion( "pituitary dwarfism II"^^xsd:string) AnnotationAssertion( "primary GH resistance"^^xsd:string) AnnotationAssertion( "primary growth hormone resistance"^^xsd:string) AnnotationAssertion( "severe GH insensitivity"^^xsd:string) AnnotationAssertion( "LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN"^^xsd:string) AnnotationAssertion( "Laron syndrome with elevated serum GH-binding protein"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9521"^^xsd:string) AnnotationAssertion(rdfs:label "Laron syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (latent syphilis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis"^^xsd:string) "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007340"^^xsd:string) AnnotationAssertion( "ICD10CM:A53.0"^^xsd:string) AnnotationAssertion( "ICD9CM:097.1"^^xsd:string) AnnotationAssertion( "MESH:D013592"^^xsd:string) AnnotationAssertion( "NCI:C35056"^^xsd:string) AnnotationAssertion( "latent stage syphili"^^xsd:string) AnnotationAssertion( "latent stage syphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9531"^^xsd:string) AnnotationAssertion(rdfs:label "latent syphilis"^^xsd:string) SubClassOf( ) # Class: (tuberculous pneumothorax) AnnotationAssertion(Annotation( "http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false"^^xsd:string) "A pneumothorax in which air enters into the pleural cavity. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A15.0"^^xsd:string) AnnotationAssertion( "ICD9CM:011.7"^^xsd:string) AnnotationAssertion( "RDO:9003183"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9534"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous pneumothorax"^^xsd:string) SubClassOf( ) # Class: (Lassa fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm"^^xsd:string) "A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007338"^^xsd:string) AnnotationAssertion( "ICD10CM:A96.2"^^xsd:string) AnnotationAssertion( "MESH:D007835"^^xsd:string) AnnotationAssertion( "NCI:C128418"^^xsd:string) AnnotationAssertion( "Lassa fevers"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9537"^^xsd:string) AnnotationAssertion(rdfs:label "Lassa fever"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (multiple myeloma) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Multiple_myeloma"^^xsd:string) Annotation( "http://www.cancer.gov/dictionary?CdrID=411384"^^xsd:string) "A myeloid neoplasm that is located_in the plasma cells in bone marrow. (DO)"^^xsd:string) AnnotationAssertion( "MIM:254500"^^xsd:string) AnnotationAssertion( "EFO:0001378"^^xsd:string) AnnotationAssertion( "GARD:7108"^^xsd:string) AnnotationAssertion( "ICD10CM:C90.0"^^xsd:string) AnnotationAssertion( "ICD9CM:203.0"^^xsd:string) AnnotationAssertion( "MESH:D009101"^^xsd:string) AnnotationAssertion( "NCI:C125416"^^xsd:string) AnnotationAssertion( "NCI:C125417"^^xsd:string) AnnotationAssertion( "NCI:C3242"^^xsd:string) AnnotationAssertion( "ORDO:29073"^^xsd:string) AnnotationAssertion( "Kahler disease"^^xsd:string) AnnotationAssertion( "Myelomatoses"^^xsd:string) AnnotationAssertion( "Myelomatosis"^^xsd:string) AnnotationAssertion( "multiple myelomas"^^xsd:string) AnnotationAssertion( "myeloma"^^xsd:string) AnnotationAssertion( "plasma cell myeloma"^^xsd:string) AnnotationAssertion( "plasma cell myelomas"^^xsd:string) AnnotationAssertion( "AL"^^xsd:string) AnnotationAssertion( "AL AMYLOIDOSIS"^^xsd:string) AnnotationAssertion( "AMYLOIDOSIS, SYSTEMIC"^^xsd:string) AnnotationAssertion( "Multiple Myeloma, Translocation 11,14 Type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Multiple Myeloma, Resistance To"^^xsd:string) AnnotationAssertion( "Multiple Myeloma, t(11;14) Type, Susceptibility To"^^xsd:string) AnnotationAssertion( "DOID:9538"^^xsd:string) AnnotationAssertion(rdfs:label "multiple myeloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (vascular skin disease) AnnotationAssertion(Annotation( "MESH:D017445"^^xsd:string) "Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area."^^xsd:string) AnnotationAssertion( "ICD9CM:709.1"^^xsd:string) AnnotationAssertion( "MESH:D017445"^^xsd:string) AnnotationAssertion( "NCI:C35254"^^xsd:string) AnnotationAssertion( "vascular skin diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9540"^^xsd:string) AnnotationAssertion(rdfs:label "vascular skin disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (osteosclerotic myeloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9541"^^xsd:string) AnnotationAssertion(rdfs:label "osteosclerotic myeloma"^^xsd:string) SubClassOf( ) # Class: (refractory plasma cell neoplasm) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7024"^^xsd:string) AnnotationAssertion( "NCI:C7813"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9544"^^xsd:string) AnnotationAssertion(rdfs:label "refractory plasma cell neoplasm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-secretory myeloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9547"^^xsd:string) AnnotationAssertion(rdfs:label "non-secretory myeloma"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (indolent plasma cell myeloma) AnnotationAssertion(Annotation( "https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/"^^xsd:string) "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C7150"^^xsd:string) AnnotationAssertion( "indolent myeloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9550"^^xsd:string) AnnotationAssertion(rdfs:label "indolent plasma cell myeloma"^^xsd:string) SubClassOf( ) # Class: (smoldering myeloma) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary/?CdrID=413932"^^xsd:string) "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0003073"^^xsd:string) AnnotationAssertion( "RDO:9002156"^^xsd:string) AnnotationAssertion( "asymptomatic myeloma"^^xsd:string) AnnotationAssertion( "asymptomatic plasma cell myeloma"^^xsd:string) AnnotationAssertion( "smoldering multiple myeloma"^^xsd:string) AnnotationAssertion( "smoldering plasma cell myeloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9551"^^xsd:string) AnnotationAssertion(rdfs:label "smoldering myeloma"^^xsd:string) SubClassOf( ) # Class: (adrenal gland disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Adrenal_gland_disease"^^xsd:string) "An endocrine system disease that is located_in the adrenal gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005539"^^xsd:string) AnnotationAssertion( "ICD10CM:E27.9"^^xsd:string) AnnotationAssertion( "ICD9CM:255.9"^^xsd:string) AnnotationAssertion( "MESH:D000307"^^xsd:string) AnnotationAssertion( "NCI:C26690"^^xsd:string) AnnotationAssertion( "adrenal gland diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9553"^^xsd:string) AnnotationAssertion(rdfs:label "adrenal gland disease"^^xsd:string) SubClassOf( ) # Class: (peripheral nerve schwannoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C41430"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:956"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral nerve schwannoma"^^xsd:string) SubClassOf( ) # Class: (nasopharyngeal disease) AnnotationAssertion(Annotation( "MESH:D009302"^^xsd:string) "Pathological processes involving the NASOPHARYNX."^^xsd:string) AnnotationAssertion( "MESH:D009302"^^xsd:string) AnnotationAssertion( "NCI:C35723"^^xsd:string) AnnotationAssertion( "Diseases of Nasopharynx"^^xsd:string) AnnotationAssertion( "Nasopharynx Disease"^^xsd:string) AnnotationAssertion( "Nasopharynx Diseases"^^xsd:string) AnnotationAssertion( "nasopharyngeal diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9561"^^xsd:string) AnnotationAssertion(rdfs:label "nasopharyngeal disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (primary ciliary dyskinesia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia"^^xsd:string) "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "GARD:4484"^^xsd:string) AnnotationAssertion( "MIM:PS244400"^^xsd:string) AnnotationAssertion( "NCI:C84638"^^xsd:string) AnnotationAssertion( "ORDO:244"^^xsd:string) AnnotationAssertion( "immotile ciliary syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9562"^^xsd:string) AnnotationAssertion(rdfs:label "primary ciliary dyskinesia"^^xsd:string) SubClassOf( ) # Class: (bronchiectasis) AnnotationAssertion(Annotation( "http://www.merck.com/mmhe/sec04/ch047/ch047a.html"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis"^^xsd:string) "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:J47"^^xsd:string) AnnotationAssertion( "ICD10CM:J47.9"^^xsd:string) AnnotationAssertion( "ICD9CM:494"^^xsd:string) AnnotationAssertion( "MESH:D001987"^^xsd:string) AnnotationAssertion( "MIM:PS211400"^^xsd:string) AnnotationAssertion( "MONDO:0004822"^^xsd:string) AnnotationAssertion( "NCI:C84475"^^xsd:string) AnnotationAssertion( "ORDO:60033"^^xsd:string) AnnotationAssertion( "Polynesian bronchiectasis"^^xsd:string) AnnotationAssertion( "bronchiectases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "cystic fibrosis-like syndrome"^^xsd:string) AnnotationAssertion( "DOID:9563"^^xsd:string) AnnotationAssertion(rdfs:label "bronchiectasis"^^xsd:string) SubClassOf( ) # Class: (dextrocardia) AnnotationAssertion(Annotation( "MESH:D003914"^^xsd:string) "A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs."^^xsd:string) AnnotationAssertion( "GARD:1827"^^xsd:string) AnnotationAssertion( "ICD10CM:Q24.0"^^xsd:string) AnnotationAssertion( "MESH:D003914"^^xsd:string) AnnotationAssertion( "NCI:C84669"^^xsd:string) AnnotationAssertion( "Dextrocardias"^^xsd:string) AnnotationAssertion( "heart predominantly in right hemithorax"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9565"^^xsd:string) AnnotationAssertion(rdfs:label "dextrocardia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choanal atresia) AnnotationAssertion(Annotation( "MESH:D002754"^^xsd:string) "A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous."^^xsd:string) AnnotationAssertion( "ICD10CM:Q30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:748.0"^^xsd:string) AnnotationAssertion( "MESH:D002754"^^xsd:string) AnnotationAssertion( "Choanal Atresias"^^xsd:string) AnnotationAssertion( "atresia of nares"^^xsd:string) AnnotationAssertion( "imperforate nares"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9574"^^xsd:string) AnnotationAssertion(rdfs:label "choanal atresia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal candidiasis) AnnotationAssertion(Annotation( "http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/"^^xsd:string) "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P37.5"^^xsd:string) AnnotationAssertion( "ICD9CM:771.7"^^xsd:string) AnnotationAssertion( "NCI:C116810"^^xsd:string) AnnotationAssertion( "neonatal candida infection"^^xsd:string) AnnotationAssertion( "neonatal monilia infection"^^xsd:string) AnnotationAssertion( "neonatal moniliasis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9577"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal candidiasis"^^xsd:string) SubClassOf( ) # Class: (Venezuelan equine encephalitis) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm"^^xsd:string) "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007534"^^xsd:string) AnnotationAssertion( "GARD:6355"^^xsd:string) AnnotationAssertion( "ICD10CM:A92.2"^^xsd:string) AnnotationAssertion( "ICD9CM:066.2"^^xsd:string) AnnotationAssertion( "MESH:D004685"^^xsd:string) AnnotationAssertion( "NCI:C35121"^^xsd:string) AnnotationAssertion( "Venezuelan equine encephalomyelitides"^^xsd:string) AnnotationAssertion( "Venezuelan equine fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9584"^^xsd:string) AnnotationAssertion(rdfs:label "Venezuelan equine encephalitis"^^xsd:string) SubClassOf( ) # Class: (encephalitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Encephalitis"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/encephalitis.html"^^xsd:string) "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0020926"^^xsd:string) AnnotationAssertion( "MESH:D004660"^^xsd:string) AnnotationAssertion( "NCI:C26760"^^xsd:string) AnnotationAssertion( "Brain Inflammation"^^xsd:string) AnnotationAssertion( "Rasmussen Encephalitis"^^xsd:string) AnnotationAssertion( "Rasmussen syndrome"^^xsd:string) AnnotationAssertion( "Rasmussen's Syndrome"^^xsd:string) AnnotationAssertion( "brain inflammations"^^xsd:string) AnnotationAssertion( "noninfective encephalitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9588"^^xsd:string) AnnotationAssertion(rdfs:label "encephalitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethral calculus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N21.1"^^xsd:string) AnnotationAssertion( "ICD9CM:594.2"^^xsd:string) AnnotationAssertion( "NCI:C26995"^^xsd:string) AnnotationAssertion( "urethral stone"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9589"^^xsd:string) AnnotationAssertion(rdfs:label "urethral calculus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (esophagus squamous cell papilloma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5344"^^xsd:string) AnnotationAssertion( "RDO:9003799"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:959"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus squamous cell papilloma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (lower urinary tract calculus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Calculus_%28medicine%29"^^xsd:string) "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N21"^^xsd:string) AnnotationAssertion( "ICD10CM:N21.9"^^xsd:string) AnnotationAssertion( "ICD9CM:594"^^xsd:string) AnnotationAssertion( "RDO:9004849"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9590"^^xsd:string) AnnotationAssertion(rdfs:label "lower urinary tract calculus"^^xsd:string) SubClassOf( ) # Class: (Krukenberg carcinoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Krukenberg_tumor"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK482284/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29113663"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29489206"^^xsd:string) "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000316"^^xsd:string) AnnotationAssertion( "GARD:8627"^^xsd:string) AnnotationAssertion( "MESH:D007725"^^xsd:string) AnnotationAssertion( "NCI:C3153"^^xsd:string) AnnotationAssertion( "Krukenberg neoplasm"^^xsd:string) AnnotationAssertion( "Krukenberg tumor"^^xsd:string) AnnotationAssertion( "Krukenberg's tumor"^^xsd:string) AnnotationAssertion( "Krukenbergs Tumor"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9597"^^xsd:string) AnnotationAssertion(rdfs:label "Krukenberg carcinoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (fasciitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Fasciitis"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846"^^xsd:string) "A connective tissue disease characterized by inflammation located in the fascia. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:M72.9"^^xsd:string) AnnotationAssertion( "ICD9CM:729.4"^^xsd:string) AnnotationAssertion( "MESH:D005208"^^xsd:string) AnnotationAssertion( "NCI:C50559"^^xsd:string) AnnotationAssertion( "Fasciitides"^^xsd:string) AnnotationAssertion( "Fascitides"^^xsd:string) AnnotationAssertion( "Fascitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9598"^^xsd:string) AnnotationAssertion(rdfs:label "fasciitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (proliferative fasciitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4728"^^xsd:string) AnnotationAssertion( "RDO:9003835"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9599"^^xsd:string) AnnotationAssertion(rdfs:label "proliferative fasciitis"^^xsd:string) SubClassOf( ) # Class: (staphyloenterotoxemia) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/22091892/"^^xsd:string) "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007497"^^xsd:string) AnnotationAssertion( "ICD10CM:A05.0"^^xsd:string) AnnotationAssertion( "ICD9CM:005.0"^^xsd:string) AnnotationAssertion( "MESH:D013202"^^xsd:string) AnnotationAssertion( "NCI:C35037"^^xsd:string) AnnotationAssertion( "Staphylococcal food poisoning"^^xsd:string) AnnotationAssertion( "staphylococcal food poisonings"^^xsd:string) AnnotationAssertion( "staphylococcal toxaemia due to food"^^xsd:string) AnnotationAssertion( "staphyloenterotoxicosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:96"^^xsd:string) AnnotationAssertion(rdfs:label "staphyloenterotoxemia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (esophagus leiomyoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C3866"^^xsd:string) AnnotationAssertion( "RDO:9003399"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:960"^^xsd:string) AnnotationAssertion(rdfs:label "esophagus leiomyoma"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (plantar fasciitis) AnnotationAssertion(Annotation( "MESH:D036981"^^xsd:string) "Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related."^^xsd:string) AnnotationAssertion( "EFO:1001909"^^xsd:string) AnnotationAssertion( "MESH:D036981"^^xsd:string) AnnotationAssertion( "Chronic Plantar Fasciitis"^^xsd:string) AnnotationAssertion( "Heel Spur Syndrome"^^xsd:string) AnnotationAssertion( "Policeman Heel"^^xsd:string) AnnotationAssertion( "Policeman's Heel"^^xsd:string) AnnotationAssertion( "Policeman's Heels"^^xsd:string) AnnotationAssertion( "Policemans Heel"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9600"^^xsd:string) AnnotationAssertion(rdfs:label "plantar fasciitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ischemic fasciitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6483"^^xsd:string) AnnotationAssertion( "RDO:9003839"^^xsd:string) AnnotationAssertion( "atypical decubital fibroplasia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9601"^^xsd:string) AnnotationAssertion(rdfs:label "ischemic fasciitis"^^xsd:string) SubClassOf( ) # Class: (necrotizing fasciitis) AnnotationAssertion(Annotation( "MESH:D019115"^^xsd:string) "A fulminating bacterial infection of the deep layers of the skin and FASCIA. It can be caused by many different organisms, with STREPTOCOCCUS PYOGENES being the most common."^^xsd:string) AnnotationAssertion( "GARD:6454"^^xsd:string) AnnotationAssertion( "ICD10CM:M72.6"^^xsd:string) AnnotationAssertion( "ICD9CM:728.86"^^xsd:string) AnnotationAssertion( "MESH:D019115"^^xsd:string) AnnotationAssertion( "NCI:C84916"^^xsd:string) AnnotationAssertion( "RDO:0007257"^^xsd:string) AnnotationAssertion( "Necrotizing Fasciitides"^^xsd:string) AnnotationAssertion( "Necrotizing Fascitides"^^xsd:string) AnnotationAssertion( "Necrotizing Fascitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9602"^^xsd:string) AnnotationAssertion(rdfs:label "necrotizing fasciitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (intravascular fasciitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C4729"^^xsd:string) AnnotationAssertion( "RDO:9003842"^^xsd:string) AnnotationAssertion( "intravascular pseudosarcomatous fasciitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9603"^^xsd:string) AnnotationAssertion(rdfs:label "intravascular fasciitis"^^xsd:string) SubClassOf( ) # Class: (neurofibroma of the esophagus) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C5704"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:961"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibroma of the esophagus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orthostatic proteinuria) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:R80.2"^^xsd:string) AnnotationAssertion( "ICD9CM:593.6"^^xsd:string) AnnotationAssertion( "RDO:9003107"^^xsd:string) AnnotationAssertion(Annotation( "SNOMEDCT_2005_07_31:77872002"^^xsd:string) "Postural albuminuria"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9617"^^xsd:string) AnnotationAssertion(rdfs:label "orthostatic proteinuria"^^xsd:string) SubClassOf( ) # Class: (neurofibroma) AnnotationAssertion(Annotation( "MESH:D009455"^^xsd:string) "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)"^^xsd:string) AnnotationAssertion( "EFO:0000397"^^xsd:string) AnnotationAssertion( "EFO:0000622"^^xsd:string) AnnotationAssertion( "GARD:7191"^^xsd:string) AnnotationAssertion( "ICDO:9540/0"^^xsd:string) AnnotationAssertion( "MESH:D009455"^^xsd:string) AnnotationAssertion( "NCI:C3272"^^xsd:string) AnnotationAssertion( "RDO:0006211"^^xsd:string) AnnotationAssertion( "Neurofibromas"^^xsd:string) AnnotationAssertion( "dermal neurofibroma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:962"^^xsd:string) AnnotationAssertion(rdfs:label "neurofibroma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vesicoureteral reflux) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Vesicoureteral_reflux"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux"^^xsd:string) Annotation( "http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956"^^xsd:string) "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193000"^^xsd:string) AnnotationAssertion( "MIM:614317"^^xsd:string) AnnotationAssertion( "EFO:0007536"^^xsd:string) AnnotationAssertion( "ICD10CM:N13.7"^^xsd:string) AnnotationAssertion( "ICD10CM:N13.70"^^xsd:string) AnnotationAssertion( "ICD9CM:593.7"^^xsd:string) AnnotationAssertion( "MESH:D014718"^^xsd:string) AnnotationAssertion( "MIM:PS193000"^^xsd:string) AnnotationAssertion( "NCI:C84467"^^xsd:string) AnnotationAssertion( "ORDO:289365"^^xsd:string) AnnotationAssertion( "VUR"^^xsd:string) AnnotationAssertion( "VUR1"^^xsd:string) AnnotationAssertion( "vesico-ureteral reflux"^^xsd:string) AnnotationAssertion( "vesicoureteral reflux 1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9620"^^xsd:string) AnnotationAssertion(rdfs:label "vesicoureteral reflux"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (non-congenital cyst of kidney) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N28.1"^^xsd:string) AnnotationAssertion( "ICD9CM:593.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9621"^^xsd:string) AnnotationAssertion(rdfs:label "non-congenital cyst of kidney"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (kidney hypertrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N28.81"^^xsd:string) AnnotationAssertion( "ICD9CM:593.1"^^xsd:string) AnnotationAssertion( "NCI:C122991"^^xsd:string) AnnotationAssertion( "RDO:9004665"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9622"^^xsd:string) AnnotationAssertion(rdfs:label "kidney hypertrophy"^^xsd:string) SubClassOf( ) # Class: (episodic ataxia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Episodic_ataxia"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/condition/episodic-ataxia"^^xsd:string) "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000638"^^xsd:string) AnnotationAssertion( "GARD:9851"^^xsd:string) AnnotationAssertion( "MESH:C580065"^^xsd:string) AnnotationAssertion( "MIM:PS160120"^^xsd:string) AnnotationAssertion( "ORDO:211062"^^xsd:string) AnnotationAssertion( "HEREDITARY EPISODIC ATAXIA"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:963"^^xsd:string) AnnotationAssertion(rdfs:label "episodic ataxia"^^xsd:string) SubClassOf( ) # Class: (Pelger-Huet anomaly) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/12118250"^^xsd:string) "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. (DO)"^^xsd:string) AnnotationAssertion( "MIM:169400"^^xsd:string) AnnotationAssertion( "EFO:1001093"^^xsd:string) AnnotationAssertion( "GARD:9148"^^xsd:string) AnnotationAssertion( "MESH:D010381"^^xsd:string) AnnotationAssertion( "NCI:C85002"^^xsd:string) AnnotationAssertion( "PHA"^^xsd:string) AnnotationAssertion( "Pelger Huet nuclear anomaly"^^xsd:string) AnnotationAssertion( "Pelger Huët Anomaly"^^xsd:string) AnnotationAssertion( "Pelger Huët Nuclear Anomaly"^^xsd:string) AnnotationAssertion( "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities"^^xsd:string) AnnotationAssertion( "pseudo Pelger Huet anomaly"^^xsd:string) AnnotationAssertion( "pseudo Pelger Huet nuclear anomaly"^^xsd:string) AnnotationAssertion( "pseudo Pelger Huët anomaly"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9631"^^xsd:string) AnnotationAssertion(rdfs:label "Pelger-Huet anomaly"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (stomatitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Stomatitis"^^xsd:string) "A mouth disease that is characterized by inflammation of the mouth and lips. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009688"^^xsd:string) AnnotationAssertion( "EFO:1001904"^^xsd:string) AnnotationAssertion( "MESH:D013280"^^xsd:string) AnnotationAssertion( "NCI:C26887"^^xsd:string) AnnotationAssertion( "Oral Mucositides"^^xsd:string) AnnotationAssertion( "Oral Mucositis"^^xsd:string) AnnotationAssertion( "Oromucositides"^^xsd:string) AnnotationAssertion( "Oromucositis"^^xsd:string) AnnotationAssertion( "Stomatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9637"^^xsd:string) AnnotationAssertion(rdfs:label "stomatitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (sarcocystosis) AnnotationAssertion(Annotation( "http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf"^^xsd:string) Annotation( "http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm"^^xsd:string) "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007476"^^xsd:string) AnnotationAssertion( "ICD9CM:136.5"^^xsd:string) AnnotationAssertion( "MESH:D012523"^^xsd:string) AnnotationAssertion( "ORDO:54368"^^xsd:string) AnnotationAssertion( "sarcocystoses"^^xsd:string) AnnotationAssertion( "sarcosporidioses"^^xsd:string) AnnotationAssertion( "sarcosporidiosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9640"^^xsd:string) AnnotationAssertion(rdfs:label "sarcocystosis"^^xsd:string) SubClassOf( ) # Class: (babesiosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Babesiosis"^^xsd:string) "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007162"^^xsd:string) AnnotationAssertion( "GARD:5878"^^xsd:string) AnnotationAssertion( "ICD10CM:B60.0"^^xsd:string) AnnotationAssertion( "ICD9CM:088.82"^^xsd:string) AnnotationAssertion( "MESH:D001404"^^xsd:string) AnnotationAssertion( "NCI:C84581"^^xsd:string) AnnotationAssertion( "Babesia Parasite Infection"^^xsd:string) AnnotationAssertion( "Babesiases"^^xsd:string) AnnotationAssertion( "Babesiasis"^^xsd:string) AnnotationAssertion( "Babesioses"^^xsd:string) AnnotationAssertion( "Human Babesioses"^^xsd:string) AnnotationAssertion( "Human Babesiosis"^^xsd:string) AnnotationAssertion( "Piroplasmoses"^^xsd:string) AnnotationAssertion( "babesia parasite infections"^^xsd:string) AnnotationAssertion( "infection by babesia"^^xsd:string) AnnotationAssertion( "piroplasmosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9643"^^xsd:string) AnnotationAssertion(rdfs:label "babesiosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital nystagmus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Nystagmus"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=nystagmus"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669"^^xsd:string) "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007217"^^xsd:string) AnnotationAssertion( "ICD10CM:H55.01"^^xsd:string) AnnotationAssertion( "ICD9CM:379.51"^^xsd:string) AnnotationAssertion( "MESH:D020417"^^xsd:string) AnnotationAssertion( "MIM:PS310700"^^xsd:string) AnnotationAssertion( "ORDO:651"^^xsd:string) AnnotationAssertion( "infantile nystagmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9649"^^xsd:string) AnnotationAssertion(rdfs:label "congenital nystagmus"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (pathologic nystagmus) AnnotationAssertion(Annotation( "MESH:D009759"^^xsd:string) "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"^^xsd:string) AnnotationAssertion( "ICD10CM:H55.0"^^xsd:string) AnnotationAssertion( "ICD9CM:379.50"^^xsd:string) AnnotationAssertion( "MESH:D009759"^^xsd:string) AnnotationAssertion( "NCI:C3282"^^xsd:string) AnnotationAssertion( "Convergence Nystagmus"^^xsd:string) AnnotationAssertion( "Fatigable Positional Nystagmus"^^xsd:string) AnnotationAssertion( "Horizontal Nystagmus"^^xsd:string) AnnotationAssertion( "Jerk Nystagmus"^^xsd:string) AnnotationAssertion( "Multidirectional Nystagmus"^^xsd:string) AnnotationAssertion( "Non Fatigable Positional Nystagmus"^^xsd:string) AnnotationAssertion( "Nystagmus"^^xsd:string) AnnotationAssertion( "Pendular Nystagmus"^^xsd:string) AnnotationAssertion( "Periodic Alternating Nystagmus"^^xsd:string) AnnotationAssertion( "Permanent Nystagmus"^^xsd:string) AnnotationAssertion( "Rebound Nystagmus"^^xsd:string) AnnotationAssertion( "Retraction Nystagmus"^^xsd:string) AnnotationAssertion( "Rotary Nystagmus"^^xsd:string) AnnotationAssertion( "Rotational Nystagmus"^^xsd:string) AnnotationAssertion( "See Saw Nystagmus"^^xsd:string) AnnotationAssertion( "Symptomatic Nystagmus"^^xsd:string) AnnotationAssertion( "Temporary Nystagmus"^^xsd:string) AnnotationAssertion( "Unidirectional Nystagmus"^^xsd:string) AnnotationAssertion( "conjugate nystagmus"^^xsd:string) AnnotationAssertion( "vertical nystagmus"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9650"^^xsd:string) AnnotationAssertion(rdfs:label "pathologic nystagmus"^^xsd:string) SubClassOf( ) # Class: (systolic heart failure) AnnotationAssertion(Annotation( "MESH:D054143"^^xsd:string) "Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying."^^xsd:string) AnnotationAssertion( "EFO:1001207"^^xsd:string) AnnotationAssertion( "ICD10CM:I50.20"^^xsd:string) AnnotationAssertion( "ICD9CM:428.2"^^xsd:string) AnnotationAssertion( "MESH:D054143"^^xsd:string) AnnotationAssertion( "RDO:0007661"^^xsd:string) AnnotationAssertion( "Systolic Heart Failures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9651"^^xsd:string) AnnotationAssertion(rdfs:label "systolic heart failure"^^xsd:string) SubClassOf( ) # Class: (oral mucosa leukoplakia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK442013/"^^xsd:string) "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006884"^^xsd:string) AnnotationAssertion( "EFO:0006885"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.2"^^xsd:string) AnnotationAssertion( "ICD10CM:K13.21"^^xsd:string) AnnotationAssertion( "ICD9CM:528.6"^^xsd:string) AnnotationAssertion( "MESH:D007972"^^xsd:string) AnnotationAssertion( "NCI:C3187"^^xsd:string) AnnotationAssertion( "Keratosis, Oral"^^xsd:string) AnnotationAssertion( "Oral Leukokeratoses"^^xsd:string) AnnotationAssertion( "Oral Leukokeratosis"^^xsd:string) AnnotationAssertion( "Oral Leukoplakia"^^xsd:string) AnnotationAssertion( "Oral Leukoplakias"^^xsd:string) AnnotationAssertion( "mouth mucous membrane leukoplakia"^^xsd:string) AnnotationAssertion( "leukoplakia of tongue"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9655"^^xsd:string) AnnotationAssertion(rdfs:label "oral mucosa leukoplakia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (aphthous stomatitis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Aphthous_stomatitis"^^xsd:string) "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0003938"^^xsd:string) AnnotationAssertion( "GARD:5834"^^xsd:string) AnnotationAssertion( "ICD9CM:528.2"^^xsd:string) AnnotationAssertion( "MESH:D013281"^^xsd:string) AnnotationAssertion( "NCI:C62546"^^xsd:string) AnnotationAssertion( "Aphthae"^^xsd:string) AnnotationAssertion( "Aphthous Stomatitides"^^xsd:string) AnnotationAssertion( "Aphthous Ulcer"^^xsd:string) AnnotationAssertion( "Aphthous Ulcers"^^xsd:string) AnnotationAssertion( "Canker Sore"^^xsd:string) AnnotationAssertion( "Canker Sores"^^xsd:string) AnnotationAssertion( "Periadenitis Mucosa Necrotica Recurrens"^^xsd:string) AnnotationAssertion( "aphtha"^^xsd:string) AnnotationAssertion( "aphthous ulceration"^^xsd:string) AnnotationAssertion( "oral aphthae"^^xsd:string) AnnotationAssertion( "oral aphthous ulcer"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9663"^^xsd:string) AnnotationAssertion(rdfs:label "aphthous stomatitis"^^xsd:string) SubClassOf( ) # Class: (placental abruption) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Abruptio_placentae"^^xsd:string) "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001754"^^xsd:string) AnnotationAssertion( "ICD10CM:O20.0"^^xsd:string) AnnotationAssertion( "ICD9CM:640.0"^^xsd:string) AnnotationAssertion( "MESH:D000037"^^xsd:string) AnnotationAssertion( "NCI:C112857"^^xsd:string) AnnotationAssertion( "abruptio placenta"^^xsd:string) AnnotationAssertion( "abruptio placentae"^^xsd:string) AnnotationAssertion( "placental abruptions"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9667"^^xsd:string) AnnotationAssertion(rdfs:label "placental abruption"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (senile cataract) AnnotationAssertion(Annotation( "https://eyewiki.aao.org/Cataract"^^xsd:string) "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006311"^^xsd:string) AnnotationAssertion( "ICD10CM:H25"^^xsd:string) AnnotationAssertion( "ICD9CM:366.1"^^xsd:string) AnnotationAssertion( "NCI:C35012"^^xsd:string) AnnotationAssertion( "RDO:9000046"^^xsd:string) AnnotationAssertion( "age-related cataract"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9669"^^xsd:string) AnnotationAssertion(rdfs:label "senile cataract"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (noma) AnnotationAssertion(Annotation( "MESH:D009625"^^xsd:string) "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)"^^xsd:string) AnnotationAssertion( "EFO:1001063"^^xsd:string) AnnotationAssertion( "GARD:4001"^^xsd:string) AnnotationAssertion( "ICD10CM:A69.0"^^xsd:string) AnnotationAssertion( "ICD9CM:528.1"^^xsd:string) AnnotationAssertion( "MESH:D009625"^^xsd:string) AnnotationAssertion( "NCI:C34852"^^xsd:string) AnnotationAssertion( "Cancrum Oris"^^xsd:string) AnnotationAssertion( "Gangrenous Stomatitides"^^xsd:string) AnnotationAssertion( "Gangrenous Stomatitis"^^xsd:string) AnnotationAssertion( "Nomas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9672"^^xsd:string) AnnotationAssertion(rdfs:label "noma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ulcerative stomatitis) AnnotationAssertion( "NCI:C35039"^^xsd:string) AnnotationAssertion( "ulcerative stomatitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9673"^^xsd:string) AnnotationAssertion(rdfs:label "ulcerative stomatitis"^^xsd:string) SubClassOf( ) # Class: (pulmonary emphysema) AnnotationAssertion(Annotation( "https://my.clevelandclinic.org/health/diseases/9370-emphysema"^^xsd:string) Annotation( "https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html"^^xsd:string) Annotation( "https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309"^^xsd:string) "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000464"^^xsd:string) AnnotationAssertion( "ICD10CM:J43.8"^^xsd:string) AnnotationAssertion( "ICD9CM:492.8"^^xsd:string) AnnotationAssertion( "MESH:D011656"^^xsd:string) AnnotationAssertion( "Centriacinar Emphysema"^^xsd:string) AnnotationAssertion( "Centrilobular Emphysema"^^xsd:string) AnnotationAssertion( "Focal Emphysema"^^xsd:string) AnnotationAssertion( "Panacinar Emphysema"^^xsd:string) AnnotationAssertion( "Panacinar Emphysemas"^^xsd:string) AnnotationAssertion( "centriacinar emphysemas"^^xsd:string) AnnotationAssertion( "centrilobular emphysemas"^^xsd:string) AnnotationAssertion( "focal emphysemas"^^xsd:string) AnnotationAssertion( "panlobular emphysema"^^xsd:string) AnnotationAssertion( "panlobular emphysemas"^^xsd:string) AnnotationAssertion( "pulmonary emphysemas"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9675"^^xsd:string) AnnotationAssertion(rdfs:label "pulmonary emphysema"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cervical incompetence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cervical_incompetence"^^xsd:string) "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007202"^^xsd:string) AnnotationAssertion( "ICD10CM:N88.3"^^xsd:string) AnnotationAssertion( "ICD9CM:622.5"^^xsd:string) AnnotationAssertion( "MESH:D002581"^^xsd:string) AnnotationAssertion( "NCI:C50607"^^xsd:string) AnnotationAssertion( "Incompetent Cervix"^^xsd:string) AnnotationAssertion( "cervix incompetence"^^xsd:string) AnnotationAssertion( "uterine cervical incompetence"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9681"^^xsd:string) AnnotationAssertion(rdfs:label "cervical incompetence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (yellow fever) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Yellow_fever"^^xsd:string) Annotation( "http://www.who.int/mediacentre/factsheets/fs100/en/index.html"^^xsd:string) Annotation( "https://www.cdc.gov/yellowfever/"^^xsd:string) "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. (DO)"^^xsd:string) AnnotationAssertion( "GARD:7914"^^xsd:string) AnnotationAssertion( "ICD10CM:A95"^^xsd:string) AnnotationAssertion( "ICD9CM:060"^^xsd:string) AnnotationAssertion( "MESH:D015004"^^xsd:string) AnnotationAssertion( "NCI:C35547"^^xsd:string) AnnotationAssertion( "Yellow Fevers"^^xsd:string) AnnotationAssertion( "jungle yellow fever"^^xsd:string) AnnotationAssertion( "sylvan yellow fever"^^xsd:string) AnnotationAssertion( "sylvatic yellow fever"^^xsd:string) AnnotationAssertion( "urban yellow fever"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9682"^^xsd:string) AnnotationAssertion(rdfs:label "yellow fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (toxic myocarditis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/27574633"^^xsd:string) "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:422.93"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9694"^^xsd:string) AnnotationAssertion(rdfs:label "toxic myocarditis"^^xsd:string) SubClassOf( ) # Class: (gonococcal keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A54.33"^^xsd:string) AnnotationAssertion( "ICD9CM:098.43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9697"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal keratitis"^^xsd:string) SubClassOf( ) # Class: (gonococcal endophthalmia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A54.39"^^xsd:string) AnnotationAssertion( "ICD9CM:098.42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9698"^^xsd:string) AnnotationAssertion(rdfs:label "gonococcal endophthalmia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ophthalmia neonatorum) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Neonatal_conjunctivitis"^^xsd:string) "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2546"^^xsd:string) AnnotationAssertion( "ICD10CM:P39.1"^^xsd:string) AnnotationAssertion( "ICD9CM:771.6"^^xsd:string) AnnotationAssertion( "MESH:D009878"^^xsd:string) AnnotationAssertion( "NCI:C116815"^^xsd:string) AnnotationAssertion( "gonococcal conjunctivitis"^^xsd:string) AnnotationAssertion( "gonococcal ophthalmia neonatorum"^^xsd:string) AnnotationAssertion( "neonatal conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9699"^^xsd:string) AnnotationAssertion(rdfs:label "ophthalmia neonatorum"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (tenosynovitis) AnnotationAssertion(Annotation( "MESH:D013717"^^xsd:string) "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced."^^xsd:string) AnnotationAssertion( "EFO:1001435"^^xsd:string) AnnotationAssertion( "MESH:D013717"^^xsd:string) AnnotationAssertion( "inflammation of tendon sheath"^^xsd:string) AnnotationAssertion( "tenosynovitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:970"^^xsd:string) AnnotationAssertion(rdfs:label "tenosynovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bacterial conjunctivitis) AnnotationAssertion(Annotation( "MESH:D003234"^^xsd:string) "Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia."^^xsd:string) AnnotationAssertion( "EFO:1000829"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.0"^^xsd:string) AnnotationAssertion( "MESH:D003234"^^xsd:string) AnnotationAssertion( "NCI:C53656"^^xsd:string) AnnotationAssertion( "Mucopurulent Conjunctivitis"^^xsd:string) AnnotationAssertion( "bacterial conjunctivitides"^^xsd:string) AnnotationAssertion( "mucopurulent conjunctivitides"^^xsd:string) AnnotationAssertion( "purulent conjunctivitides"^^xsd:string) AnnotationAssertion( "purulent conjunctivitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9700"^^xsd:string) AnnotationAssertion(rdfs:label "bacterial conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (rosacea conjunctivitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H10.82"^^xsd:string) AnnotationAssertion( "ICD9CM:372.31"^^xsd:string) AnnotationAssertion( "MONDO:0004856"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9709"^^xsd:string) AnnotationAssertion(rdfs:label "rosacea conjunctivitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tendinitis) AnnotationAssertion(Annotation( "MESH:D052256"^^xsd:string) "Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance."^^xsd:string) AnnotationAssertion( "EFO:1001434"^^xsd:string) AnnotationAssertion( "MESH:D052256"^^xsd:string) AnnotationAssertion( "NCI:C97141"^^xsd:string) AnnotationAssertion( "Tendinopathies"^^xsd:string) AnnotationAssertion( "Tendinopathy"^^xsd:string) AnnotationAssertion( "Tendinoses"^^xsd:string) AnnotationAssertion( "Tendinosis"^^xsd:string) AnnotationAssertion( "Tendonitides"^^xsd:string) AnnotationAssertion( "Tendonitis"^^xsd:string) AnnotationAssertion( "Tendonopathies"^^xsd:string) AnnotationAssertion( "Tendonopathy"^^xsd:string) AnnotationAssertion( "Tendonoses"^^xsd:string) AnnotationAssertion( "tendinitides"^^xsd:string) AnnotationAssertion( "tendonosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:971"^^xsd:string) AnnotationAssertion(rdfs:label "tendinitis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (occlusion of gallbladder) AnnotationAssertion( "ICD10CM:K82.0"^^xsd:string) AnnotationAssertion( "ICD9CM:575.2"^^xsd:string) AnnotationAssertion( "NCI:C78308"^^xsd:string) AnnotationAssertion( "obstruction of gallbladder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9714"^^xsd:string) AnnotationAssertion(rdfs:label "occlusion of gallbladder"^^xsd:string) SubClassOf( ) # Class: (hydrops of gallbladder) AnnotationAssertion( "ICD10CM:K82.1"^^xsd:string) AnnotationAssertion( "ICD9CM:575.3"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9717"^^xsd:string) AnnotationAssertion(rdfs:label "hydrops of gallbladder"^^xsd:string) SubClassOf( ) # Class: (neovascular inflammatory vitreoretinopathy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/23055945"^^xsd:string) "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5. (DO)"^^xsd:string) AnnotationAssertion( "MIM:193235"^^xsd:string) AnnotationAssertion( "EFO:1001129"^^xsd:string) AnnotationAssertion( "MESH:D018630"^^xsd:string) AnnotationAssertion( "ORDO:329211"^^xsd:string) AnnotationAssertion( "ADNIV"^^xsd:string) AnnotationAssertion( "PVR"^^xsd:string) AnnotationAssertion( "VRNI"^^xsd:string) AnnotationAssertion( "neovascular inflammatory vitreoretinopathies"^^xsd:string) AnnotationAssertion( "neovascular inflammatory vitreoretinopathy, autosomal dominant"^^xsd:string) AnnotationAssertion( "proliferative vitreoretinopathies"^^xsd:string) AnnotationAssertion( "proliferative vitreoretinopathy"^^xsd:string) AnnotationAssertion( "retinitis proliferans"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9719"^^xsd:string) AnnotationAssertion(rdfs:label "neovascular inflammatory vitreoretinopathy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (vitreous disease) AnnotationAssertion(Annotation( "https://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/"^^xsd:string) "An eye and adnexa disease that is located in the vitreous of the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0008624"^^xsd:string) AnnotationAssertion( "ICD10CM:H43.39"^^xsd:string) AnnotationAssertion( "ICD9CM:379.24"^^xsd:string) AnnotationAssertion( "vitreous body disease"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9720"^^xsd:string) AnnotationAssertion(rdfs:label "vitreous disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (ophthalmia nodosa) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.24"^^xsd:string) AnnotationAssertion( "ICD9CM:360.14"^^xsd:string) AnnotationAssertion( "RDO:9002908"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9722"^^xsd:string) AnnotationAssertion(rdfs:label "ophthalmia nodosa"^^xsd:string) SubClassOf( ) # Class: (vitreous abscess) AnnotationAssertion(Annotation( "https://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93"^^xsd:string) "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:360.04"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9723"^^xsd:string) AnnotationAssertion(rdfs:label "vitreous abscess"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (purulent endophthalmitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.0"^^xsd:string) AnnotationAssertion( "ICD9CM:360.0"^^xsd:string) AnnotationAssertion( "RDO:9003023"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9724"^^xsd:string) AnnotationAssertion(rdfs:label "purulent endophthalmitis"^^xsd:string) SubClassOf( ) # Class: (vitreous detachment) AnnotationAssertion(Annotation( "MESH:D020255"^^xsd:string) "Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility."^^xsd:string) AnnotationAssertion( "EFO:1001238"^^xsd:string) AnnotationAssertion( "MESH:D020255"^^xsd:string) AnnotationAssertion( "NCI:C50807"^^xsd:string) AnnotationAssertion( "RDO:0003342"^^xsd:string) AnnotationAssertion( "Posterior Vitreous Detachment"^^xsd:string) AnnotationAssertion( "Posterior Vitreous Detachments"^^xsd:string) AnnotationAssertion( "Vitreous Detachments"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9726"^^xsd:string) AnnotationAssertion(rdfs:label "vitreous detachment"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (renal tuberculosis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/"^^xsd:string) "An urogenital tuberculosis that results_in formation of granulomas located_in kidney. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007463"^^xsd:string) AnnotationAssertion( "ICD9CM:016.0"^^xsd:string) AnnotationAssertion( "MESH:D014398"^^xsd:string) AnnotationAssertion( "NCI:C123020"^^xsd:string) AnnotationAssertion( "Renal Tuberculoses"^^xsd:string) AnnotationAssertion( "tuberculosis of kidney"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9733"^^xsd:string) AnnotationAssertion(rdfs:label "renal tuberculosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (acute allergic mucoid otitis media) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/15301306"^^xsd:string) "A blue drum syndrome caused by an allergen. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:381.05"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9735"^^xsd:string) AnnotationAssertion(rdfs:label "acute allergic mucoid otitis media"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (blue drum syndrome) AnnotationAssertion(Annotation( "http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false"^^xsd:string) Annotation( "http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false"^^xsd:string) "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:381.02"^^xsd:string) AnnotationAssertion( "acute mucoid otitis media"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9736"^^xsd:string) AnnotationAssertion(rdfs:label "blue drum syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eustachian tube disease) AnnotationAssertion(Annotation( "http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false"^^xsd:string) "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-26T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0009667"^^xsd:string) AnnotationAssertion( "ICD9CM:381.8"^^xsd:string) AnnotationAssertion( "RDO:9003837"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9739"^^xsd:string) AnnotationAssertion(rdfs:label "eustachian tube disease"^^xsd:string) SubClassOf( ) # Class: (upper respiratory tract disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Category:Upper_respiratory_tract_diseases"^^xsd:string) Annotation( "http://www.who.int/topics/respiratory_tract_diseases/en/"^^xsd:string) "A respiratory system disease which involves the upper respiratory tract. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:478.19"^^xsd:string) AnnotationAssertion( "MONDO:0004867"^^xsd:string) AnnotationAssertion( "upper respiratory tract disorder"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:974"^^xsd:string) AnnotationAssertion(rdfs:label "upper respiratory tract disease"^^xsd:string) SubClassOf( ) # Class: (postcholecystectomy syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Postcholecystectomy_syndrome"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/29730174/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK539902/"^^xsd:string) "A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001117"^^xsd:string) AnnotationAssertion( "ICD10CM:K91.5"^^xsd:string) AnnotationAssertion( "ICD9CM:576.0"^^xsd:string) AnnotationAssertion( "MESH:D017562"^^xsd:string) AnnotationAssertion( "Post Cholecystectomy Syndrome"^^xsd:string) AnnotationAssertion( "Post Choledochoduodenostomy Syndrome"^^xsd:string) AnnotationAssertion( "Post Choledochojejunostomy Syndrome"^^xsd:string) AnnotationAssertion( "Post Choledochostomy Syndrome"^^xsd:string) AnnotationAssertion( "Post-Choledochoduodenostomy Syndromes"^^xsd:string) AnnotationAssertion( "Post-Choledochojejunostomy Syndromes"^^xsd:string) AnnotationAssertion( "Post-Choledochostomy Syndromes"^^xsd:string) AnnotationAssertion( "Postcholecystectomy Syndromes"^^xsd:string) AnnotationAssertion( "Postcholedochoduodenostomy Syndrome"^^xsd:string) AnnotationAssertion( "Postcholedochoduodenostomy Syndromes"^^xsd:string) AnnotationAssertion( "Postcholedochojejunostomy Syndrome"^^xsd:string) AnnotationAssertion( "Postcholedochojejunostomy Syndromes"^^xsd:string) AnnotationAssertion( "Postcholedochostomy Syndrome"^^xsd:string) AnnotationAssertion( "post-cholecystectomy syndromes"^^xsd:string) AnnotationAssertion( "postcholedochostomy syndromes"^^xsd:string) AnnotationAssertion( "sump syndrome"^^xsd:string) AnnotationAssertion( "sump syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9740"^^xsd:string) AnnotationAssertion(rdfs:label "postcholecystectomy syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (biliary tract disease) AnnotationAssertion(Annotation( "MESH:D001660"^^xsd:string) Annotation( "https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/gallbladder-biliary-tract-disease"^^xsd:string) "A hepatobiliary disease that is located_in the biliary tract. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009534"^^xsd:string) AnnotationAssertion( "ICD10CM:K83.9"^^xsd:string) AnnotationAssertion( "ICD9CM:576.9"^^xsd:string) AnnotationAssertion( "MESH:D001660"^^xsd:string) AnnotationAssertion( "biliary tract diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9741"^^xsd:string) AnnotationAssertion(rdfs:label "biliary tract disease"^^xsd:string) SubClassOf( ) # Class: (pelvic varices) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Varicose_veins"^^xsd:string) "A varicose veins that is located_in the pelvis. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:I86.2"^^xsd:string) AnnotationAssertion( "ICD9CM:456.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9742"^^xsd:string) AnnotationAssertion(rdfs:label "pelvic varices"^^xsd:string) SubClassOf( ) # Class: (diabetic neuropathy) AnnotationAssertion(Annotation( "MESH:D003929"^^xsd:string) "Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"^^xsd:string) AnnotationAssertion( "EFO:1000783"^^xsd:string) AnnotationAssertion( "ICD9CM:250.6"^^xsd:string) AnnotationAssertion( "MESH:D003929"^^xsd:string) AnnotationAssertion( "NCI:C26748"^^xsd:string) AnnotationAssertion( "Asymmetric Diabetic Proximal Motor Neuropathy"^^xsd:string) AnnotationAssertion( "Diabetic Amyotrophy"^^xsd:string) AnnotationAssertion( "Diabetic Asymmetric Polyneuropathy"^^xsd:string) AnnotationAssertion( "Diabetic Mononeuropathy"^^xsd:string) AnnotationAssertion( "Diabetic Mononeuropathy Simplex"^^xsd:string) AnnotationAssertion( "Diabetic Mononeuropathy Simplices"^^xsd:string) AnnotationAssertion( "Diabetic Neuralgia"^^xsd:string) AnnotationAssertion( "Diabetic Neuralgias"^^xsd:string) AnnotationAssertion( "diabetic amyotrophies"^^xsd:string) AnnotationAssertion( "diabetic asymmetric polyneuropathies"^^xsd:string) AnnotationAssertion( "diabetic mononeuropathies"^^xsd:string) AnnotationAssertion( "diabetic neuropathies"^^xsd:string) AnnotationAssertion( "painful diabetic neuropathies"^^xsd:string) AnnotationAssertion( "painful diabetic neuropathy"^^xsd:string) AnnotationAssertion( "symmetric diabetic proximal motor neuropathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9743"^^xsd:string) AnnotationAssertion(rdfs:label "diabetic neuropathy"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (type 1 diabetes mellitus) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Diabetes"^^xsd:string) Annotation( "http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1"^^xsd:string) "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)"^^xsd:string) AnnotationAssertion( "MIM:222100"^^xsd:string) AnnotationAssertion( "MIM:300136"^^xsd:string) AnnotationAssertion( "EFO:0001359"^^xsd:string) AnnotationAssertion( "EFO:0009757"^^xsd:string) AnnotationAssertion( "GARD:10268"^^xsd:string) AnnotationAssertion( "MESH:D003922"^^xsd:string) AnnotationAssertion( "MONDO:0005147"^^xsd:string) AnnotationAssertion( "NCI:C2986"^^xsd:string) AnnotationAssertion( "IDDM"^^xsd:string) AnnotationAssertion( "IDDM1"^^xsd:string) AnnotationAssertion( "IDDMX"^^xsd:string) AnnotationAssertion( "Insulin-Dependent Diabetes Mellitus 1"^^xsd:string) AnnotationAssertion( "T1D"^^xsd:string) AnnotationAssertion( "autoimmune diabetes"^^xsd:string) AnnotationAssertion( "brittle diabetes mellitus"^^xsd:string) AnnotationAssertion( "diabetes mellitus, type I"^^xsd:string) AnnotationAssertion( "insulin-dependent diabetes mellitus"^^xsd:string) AnnotationAssertion( "juvenile-onset diabetes mellitus"^^xsd:string) AnnotationAssertion( "sudden-onset diabetes mellitus"^^xsd:string) AnnotationAssertion( "type 1 diabetes"^^xsd:string) AnnotationAssertion( "JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1"^^xsd:string) AnnotationAssertion( "JUVENILE-ONSET DIABETES"^^xsd:string) AnnotationAssertion( "idiopathic type 1 diabetes"^^xsd:string) AnnotationAssertion( "neonatal insulin-dependent diabetes mellitus"^^xsd:string) AnnotationAssertion( "virus-induced diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9744"^^xsd:string) AnnotationAssertion(rdfs:label "type 1 diabetes mellitus"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (perianal hematoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K64.5"^^xsd:string) AnnotationAssertion( "ICD9CM:455.4"^^xsd:string) AnnotationAssertion( "external thrombosed haemorrhoids"^^xsd:string) AnnotationAssertion( "thrombosed external hemorrhoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9745"^^xsd:string) AnnotationAssertion(rdfs:label "perianal hematoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemorrhoid) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hemorrhoid"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/hemorrhoids.html"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19725283"^^xsd:string) "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009552"^^xsd:string) AnnotationAssertion( "ICD10CM:K64"^^xsd:string) AnnotationAssertion( "ICD9CM:455"^^xsd:string) AnnotationAssertion( "MESH:D006484"^^xsd:string) AnnotationAssertion( "NCI:C26792"^^xsd:string) AnnotationAssertion( "hemorrhoidal disease"^^xsd:string) AnnotationAssertion( "hemorrhoids"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9746"^^xsd:string) AnnotationAssertion(rdfs:label "hemorrhoid"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (internal hemorrhoid) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268"^^xsd:string) "A hemorrhoid that is located_in the rectum. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:455.6"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9749"^^xsd:string) AnnotationAssertion(rdfs:label "internal hemorrhoid"^^xsd:string) SubClassOf( ) # Class: (ganglion or cyst of synovium/tendon/bursa) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:727.49"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9754"^^xsd:string) AnnotationAssertion(rdfs:label "ganglion or cyst of synovium/tendon/bursa"^^xsd:string) SubClassOf( ) # Class: (emphysematous cholecystitis) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous"^^xsd:string) Annotation( "https://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us"^^xsd:string) "A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007249"^^xsd:string) AnnotationAssertion( "MESH:D041882"^^xsd:string) AnnotationAssertion( "NCI:C35592"^^xsd:string) AnnotationAssertion( "gaseous pericholecystitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9765"^^xsd:string) AnnotationAssertion(rdfs:label "emphysematous cholecystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (xanthogranulomatous cholecystitis) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/23991684/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/26981227/"^^xsd:string) "A cholecystitis characterized by nodules containing lipid-laden macrophages. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9451"^^xsd:string) AnnotationAssertion( "MESH:C536762"^^xsd:string) AnnotationAssertion( "NCI:C35792"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9766"^^xsd:string) AnnotationAssertion(rdfs:label "xanthogranulomatous cholecystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (myocardial stunning) AnnotationAssertion(Annotation( "MESH:D017682"^^xsd:string) "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity."^^xsd:string) AnnotationAssertion( "MESH:D017682"^^xsd:string) AnnotationAssertion( "Myocardial Hibernation"^^xsd:string) AnnotationAssertion( "Stunned Myocardium"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9767"^^xsd:string) AnnotationAssertion(rdfs:label "myocardial stunning"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (heart aneurysm) AnnotationAssertion(Annotation( "MESH:D006322"^^xsd:string) "A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture."^^xsd:string) AnnotationAssertion( "EFO:1000959"^^xsd:string) AnnotationAssertion( "ICD10CM:I25.3"^^xsd:string) AnnotationAssertion( "MESH:D006322"^^xsd:string) AnnotationAssertion( "Cardiac Aneurysm"^^xsd:string) AnnotationAssertion( "Cardiac Aneurysms"^^xsd:string) AnnotationAssertion( "Heart Aneurysms"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9768"^^xsd:string) AnnotationAssertion(rdfs:label "heart aneurysm"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (transient neonatal thrombocytopenia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:P61.0"^^xsd:string) AnnotationAssertion( "ICD9CM:776.1"^^xsd:string) AnnotationAssertion( "RDO:9002308"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9771"^^xsd:string) AnnotationAssertion(rdfs:label "transient neonatal thrombocytopenia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (female breast upper-outer quadrant cancer) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/"^^xsd:string) "A female breast cancer that is located_in the upper-outer quadrant of the breast. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-01T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:C50.41"^^xsd:string) AnnotationAssertion( "ICD9CM:174.4"^^xsd:string) AnnotationAssertion( "RDO:9001818"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9773"^^xsd:string) AnnotationAssertion(rdfs:label "female breast upper-outer quadrant cancer"^^xsd:string) SubClassOf( ) # Class: (diastolic heart failure) AnnotationAssertion(Annotation( "MESH:D054144"^^xsd:string) "Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling."^^xsd:string) AnnotationAssertion( "EFO:1000899"^^xsd:string) AnnotationAssertion( "ICD10CM:I50.30"^^xsd:string) AnnotationAssertion( "ICD9CM:428.3"^^xsd:string) AnnotationAssertion( "MESH:D054144"^^xsd:string) AnnotationAssertion( "Diastolic Heart Failures"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9775"^^xsd:string) AnnotationAssertion(rdfs:label "diastolic heart failure"^^xsd:string) SubClassOf( ) # Class: (Senile atrophy of choroid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.41"^^xsd:string) AnnotationAssertion( "RDO:9004889"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9776"^^xsd:string) AnnotationAssertion(rdfs:label "Senile atrophy of choroid"^^xsd:string) SubClassOf( ) # Class: (irritable bowel syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Irritable_bowel_syndrome"^^xsd:string) Annotation( "https://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome"^^xsd:string) "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000555"^^xsd:string) AnnotationAssertion( "ICD10CM:K58"^^xsd:string) AnnotationAssertion( "ICD10CM:K58.9"^^xsd:string) AnnotationAssertion( "ICD9CM:564.1"^^xsd:string) AnnotationAssertion( "MESH:D043183"^^xsd:string) AnnotationAssertion( "NCI:C82343"^^xsd:string) AnnotationAssertion( "IBD"^^xsd:string) AnnotationAssertion( "Irritable Colon"^^xsd:string) AnnotationAssertion( "Mucous Colitides"^^xsd:string) AnnotationAssertion( "irritable bowel syndromes"^^xsd:string) AnnotationAssertion( "mucous colitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "psychogenic IBS"^^xsd:string) AnnotationAssertion( "DOID:9778"^^xsd:string) AnnotationAssertion(rdfs:label "irritable bowel syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (bowel dysfunction) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-31T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K59.9"^^xsd:string) AnnotationAssertion( "ICD9CM:564.9"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9779"^^xsd:string) AnnotationAssertion(rdfs:label "bowel dysfunction"^^xsd:string) SubClassOf( ) # Class: (trichinosis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007520"^^xsd:string) AnnotationAssertion( "ICD10CM:B75"^^xsd:string) AnnotationAssertion( "ICD9CM:124"^^xsd:string) AnnotationAssertion( "MESH:D014235"^^xsd:string) AnnotationAssertion( "NCI:C85199"^^xsd:string) AnnotationAssertion( "Human Trichinellosis"^^xsd:string) AnnotationAssertion( "Trichinelliases"^^xsd:string) AnnotationAssertion( "Trichinelliasis"^^xsd:string) AnnotationAssertion( "Trichinelloses"^^xsd:string) AnnotationAssertion( "human trichinelloses"^^xsd:string) AnnotationAssertion( "trichinella spiralis infection"^^xsd:string) AnnotationAssertion( "trichinellosis"^^xsd:string) AnnotationAssertion( "trichinoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9784"^^xsd:string) AnnotationAssertion(rdfs:label "trichinosis"^^xsd:string) SubClassOf( ) # Class: (bulbar polio) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Poliomyelitis"^^xsd:string) "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007186"^^xsd:string) AnnotationAssertion( "ICD9CM:045.0"^^xsd:string) AnnotationAssertion( "MESH:D011052"^^xsd:string) AnnotationAssertion( "bulbar poliomyelitis"^^xsd:string) AnnotationAssertion( "medullary involvement poliomyelitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9786"^^xsd:string) AnnotationAssertion(rdfs:label "bulbar polio"^^xsd:string) SubClassOf( ) # Class: (myositis fibrosa) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M60.1"^^xsd:string) AnnotationAssertion( "ICD9CM:728.81"^^xsd:string) AnnotationAssertion( "NCI:C26985"^^xsd:string) AnnotationAssertion( "interstitial myositis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9788"^^xsd:string) AnnotationAssertion(rdfs:label "myositis fibrosa"^^xsd:string) SubClassOf( ) # Class: (angioid streaks of choroid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.43"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:979"^^xsd:string) AnnotationAssertion(rdfs:label "angioid streaks of choroid"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (toxocariasis) AnnotationAssertion(Annotation( "http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm"^^xsd:string) "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007516"^^xsd:string) AnnotationAssertion( "GARD:7788"^^xsd:string) AnnotationAssertion( "ICD10CM:B83.0"^^xsd:string) AnnotationAssertion( "MESH:D007816"^^xsd:string) AnnotationAssertion( "MESH:D014120"^^xsd:string) AnnotationAssertion( "NCI:C34758"^^xsd:string) AnnotationAssertion( "infection by toxascaris"^^xsd:string) AnnotationAssertion( "toxocara infection"^^xsd:string) AnnotationAssertion( "toxocariases"^^xsd:string) AnnotationAssertion( "visceral larva migrans"^^xsd:string) AnnotationAssertion( "visceral larva migrans syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9790"^^xsd:string) AnnotationAssertion(rdfs:label "toxocariasis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hereditary choroidal atrophy) AnnotationAssertion( "ICD10CM:H31.2"^^xsd:string) AnnotationAssertion( "ICD9CM:363.5"^^xsd:string) AnnotationAssertion( "RDO:9003429"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9794"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary choroidal atrophy"^^xsd:string) SubClassOf( ) # Class: (eye degenerative disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H44.5"^^xsd:string) AnnotationAssertion( "ICD9CM:360.4"^^xsd:string) AnnotationAssertion( "eye degenerative diseases"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9799"^^xsd:string) AnnotationAssertion(rdfs:label "eye degenerative disease"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (choroidal sclerosis) AnnotationAssertion( "MIM:215500"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.10"^^xsd:string) AnnotationAssertion( "ICD9CM:363.4"^^xsd:string) AnnotationAssertion( "MESH:C535358"^^xsd:string) AnnotationAssertion( "MIM:PS215500"^^xsd:string) AnnotationAssertion( "CACD"^^xsd:string) AnnotationAssertion( "CACD1"^^xsd:string) AnnotationAssertion( "central areolar choroidal dystrophy"^^xsd:string) AnnotationAssertion( "central areolar choroidal dystrophy 1"^^xsd:string) AnnotationAssertion( "central areolar choroidal sclerosis"^^xsd:string) AnnotationAssertion( "choroidal degenerations"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:980"^^xsd:string) AnnotationAssertion(rdfs:label "choroidal sclerosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tuberculous peritonitis) AnnotationAssertion(Annotation( "http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false"^^xsd:string) "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007529"^^xsd:string) AnnotationAssertion( "ICD10CM:A18.31"^^xsd:string) AnnotationAssertion( "ICD9CM:014.0"^^xsd:string) AnnotationAssertion( "MESH:D014395"^^xsd:string) AnnotationAssertion( "peritoneal tuberculosis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9801"^^xsd:string) AnnotationAssertion(rdfs:label "tuberculous peritonitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Goodpasture syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome"^^xsd:string) "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0007290"^^xsd:string) AnnotationAssertion( "GARD:2551"^^xsd:string) AnnotationAssertion( "ICD10CM:M31.0"^^xsd:string) AnnotationAssertion( "ICD9CM:446.21"^^xsd:string) AnnotationAssertion( "MIM:233450"^^xsd:string) AnnotationAssertion( "NCI:C34649"^^xsd:string) AnnotationAssertion( "NCI:C84566"^^xsd:string) AnnotationAssertion( "Goodpasture's syndrome"^^xsd:string) AnnotationAssertion( "Goodpastures syndrome"^^xsd:string) AnnotationAssertion( "anti-GBM disease"^^xsd:string) AnnotationAssertion( "anti-glomerular basement membrane disease"^^xsd:string) AnnotationAssertion( "lung purpura with nephritis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9808"^^xsd:string) AnnotationAssertion(rdfs:label "Goodpasture syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypersensitivity vasculitis) AnnotationAssertion(Annotation( "https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis"^^xsd:string) "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000974"^^xsd:string) AnnotationAssertion( "GARD:7851"^^xsd:string) AnnotationAssertion( "ICD9CM:446.2"^^xsd:string) AnnotationAssertion( "NCI:C35119"^^xsd:string) AnnotationAssertion( "hypersensitivity vasculitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9809"^^xsd:string) AnnotationAssertion(rdfs:label "hypersensitivity vasculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (diffuse secondary choroid atrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-30T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.12"^^xsd:string) AnnotationAssertion( "ICD9CM:363.42"^^xsd:string) AnnotationAssertion( "RDO:9004273"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:981"^^xsd:string) AnnotationAssertion(rdfs:label "diffuse secondary choroid atrophy"^^xsd:string) SubClassOf( ) # Class: (polyarteritis nodosa) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Polyarteritis_nodosa"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/"^^xsd:string) "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0009012"^^xsd:string) AnnotationAssertion( "GARD:7360"^^xsd:string) AnnotationAssertion( "ICD10CM:M30.0"^^xsd:string) AnnotationAssertion( "ICD9CM:446.0"^^xsd:string) AnnotationAssertion( "MESH:D010488"^^xsd:string) AnnotationAssertion( "NCI:C26847"^^xsd:string) AnnotationAssertion( "Essential Polyarteritis"^^xsd:string) AnnotationAssertion( "Necrotizing Arteritides"^^xsd:string) AnnotationAssertion( "Necrotizing Arteritis"^^xsd:string) AnnotationAssertion( "essential polyarteritides"^^xsd:string) AnnotationAssertion( "periarteritis nodosa"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9810"^^xsd:string) AnnotationAssertion(rdfs:label "polyarteritis nodosa"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (partial circumpapillary choroid dystrophy) AnnotationAssertion( "ICD9CM:363.51"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9811"^^xsd:string) AnnotationAssertion(rdfs:label "partial circumpapillary choroid dystrophy"^^xsd:string) SubClassOf( ) # Class: (central gyrate choroidal dystrophy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.54"^^xsd:string) AnnotationAssertion( "RDO:9003432"^^xsd:string) AnnotationAssertion(Annotation( "MTHICD9_2006:363.54"^^xsd:string) "Choroidal dystrophy, serpiginous"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9820"^^xsd:string) AnnotationAssertion(rdfs:label "central gyrate choroidal dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Choroideremia) AnnotationAssertion(Annotation( "MESH:D015794"^^xsd:string) "An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness."^^xsd:string) AnnotationAssertion( "MIM:303100"^^xsd:string) AnnotationAssertion( "GARD:6061"^^xsd:string) AnnotationAssertion( "ICD10CM:H31.21"^^xsd:string) AnnotationAssertion( "ICD9CM:363.55"^^xsd:string) AnnotationAssertion( "MESH:D015794"^^xsd:string) AnnotationAssertion( "NCI:C34469"^^xsd:string) AnnotationAssertion( "ORDO:180"^^xsd:string) AnnotationAssertion( "CHM"^^xsd:string) AnnotationAssertion( "CHM-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE"^^xsd:string) AnnotationAssertion( "TCD"^^xsd:string) AnnotationAssertion( "choroideremias"^^xsd:string) AnnotationAssertion( "progressive choroidal atrophy"^^xsd:string) AnnotationAssertion( "progressive tapetochoroidal dystrophies"^^xsd:string) AnnotationAssertion( "Choroideremia, Salla type"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "CHOROIDAL SCLEROSIS"^^xsd:string) AnnotationAssertion( "DOID:9821"^^xsd:string) AnnotationAssertion(rdfs:label "Choroideremia"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (partial central choroid dystrophy) AnnotationAssertion( "ICD9CM:363.53"^^xsd:string) AnnotationAssertion( "central areolar choroid dystrophy"^^xsd:string) AnnotationAssertion( "central areolar choroidal dystrophy"^^xsd:string) AnnotationAssertion( "partial central choroidal dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9822"^^xsd:string) AnnotationAssertion(rdfs:label "partial central choroid dystrophy"^^xsd:string) SubClassOf( ) # Class: (radioulnar synostosis) AnnotationAssertion( "MIM:179300"^^xsd:string) AnnotationAssertion( "ICD9CM:755.53"^^xsd:string) AnnotationAssertion( "MESH:C562408"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "DOID:9827"^^xsd:string) AnnotationAssertion(rdfs:label "radioulnar synostosis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (neonatal abstinence syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome"^^xsd:string) "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0005799"^^xsd:string) AnnotationAssertion( "ICD10CM:P96.1"^^xsd:string) AnnotationAssertion( "ICD9CM:779.5"^^xsd:string) AnnotationAssertion( "MESH:D009357"^^xsd:string) AnnotationAssertion( "NCI:C35808"^^xsd:string) AnnotationAssertion( "NCI:C87101"^^xsd:string) AnnotationAssertion( "Neonatal Abstinence Syndromes"^^xsd:string) AnnotationAssertion( "Neonatal Passive Addiction"^^xsd:string) AnnotationAssertion( "Neonatal Passive Addictions"^^xsd:string) AnnotationAssertion( "Neonatal Substance Withdrawal"^^xsd:string) AnnotationAssertion( "Neonatal Substance Withdrawals"^^xsd:string) AnnotationAssertion( "Neonatal Withdrawal Syndrome"^^xsd:string) AnnotationAssertion( "Neonatal Withdrawal Syndromes"^^xsd:string) AnnotationAssertion( "drug withdrawal syndrome in newborn"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9828"^^xsd:string) AnnotationAssertion(rdfs:label "neonatal abstinence syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hyperopia) AnnotationAssertion(Annotation( "https://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495"^^xsd:string) "A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0006310"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.0"^^xsd:string) AnnotationAssertion( "ICD9CM:367.0"^^xsd:string) AnnotationAssertion( "MESH:D006956"^^xsd:string) AnnotationAssertion( "MONDO:0004891"^^xsd:string) AnnotationAssertion( "far-sightedness"^^xsd:string) AnnotationAssertion( "farsightedness"^^xsd:string) AnnotationAssertion( "hypermetropia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9834"^^xsd:string) AnnotationAssertion(rdfs:label "hyperopia"^^xsd:string) SubClassOf( ) # Class: (refractive error) AnnotationAssertion(Annotation( "MESH:D012030"^^xsd:string) "Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus."^^xsd:string) AnnotationAssertion( "EFO:0003908"^^xsd:string) AnnotationAssertion( "ICD10CM:H52.7"^^xsd:string) AnnotationAssertion( "MESH:D012030"^^xsd:string) AnnotationAssertion( "MONDO:0004892"^^xsd:string) AnnotationAssertion( "NCI:C87145"^^xsd:string) AnnotationAssertion( "ametropia"^^xsd:string) AnnotationAssertion( "ametropias"^^xsd:string) AnnotationAssertion( "refractive disorder"^^xsd:string) AnnotationAssertion( "refractive disorders"^^xsd:string) AnnotationAssertion( "refractive errors"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9835"^^xsd:string) AnnotationAssertion(rdfs:label "refractive error"^^xsd:string) SubClassOf( ) # Class: (hypertropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.2"^^xsd:string) AnnotationAssertion( "ICD9CM:378.31"^^xsd:string) AnnotationAssertion( "NCI:C34716"^^xsd:string) AnnotationAssertion( "Hypertropias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9837"^^xsd:string) AnnotationAssertion(rdfs:label "hypertropia"^^xsd:string) SubClassOf( ) # Class: (cyclotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.41"^^xsd:string) AnnotationAssertion( "ICD9CM:378.33"^^xsd:string) AnnotationAssertion( "MESH:C000721272"^^xsd:string) AnnotationAssertion( "excyclotropia"^^xsd:string) AnnotationAssertion( "incyclotropia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9838"^^xsd:string) AnnotationAssertion(rdfs:label "cyclotropia"^^xsd:string) SubClassOf( ) # Class: (accommodative esotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.43"^^xsd:string) AnnotationAssertion( "ICD9CM:378.35"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9839"^^xsd:string) AnnotationAssertion(rdfs:label "accommodative esotropia"^^xsd:string) SubClassOf( ) # Class: (esotropia) AnnotationAssertion(Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+"^^xsd:string) "A strabismus that is characterized the eye which turns inward toward the nose. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8235"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.0"^^xsd:string) AnnotationAssertion( "ICD9CM:378.0"^^xsd:string) AnnotationAssertion( "MESH:D004948"^^xsd:string) AnnotationAssertion( "NCI:C34596"^^xsd:string) AnnotationAssertion( "Esodeviation"^^xsd:string) AnnotationAssertion( "Esodeviations"^^xsd:string) AnnotationAssertion( "Esophoria"^^xsd:string) AnnotationAssertion( "Esophorias"^^xsd:string) AnnotationAssertion( "Esotropias"^^xsd:string) AnnotationAssertion( "Intermittent Esotropia"^^xsd:string) AnnotationAssertion( "Intermittent Esotropias"^^xsd:string) AnnotationAssertion( "Internal Strabismus"^^xsd:string) AnnotationAssertion( "Primary Esotropia"^^xsd:string) AnnotationAssertion( "convergence in manifest squint"^^xsd:string) AnnotationAssertion( "convergent strabismus"^^xsd:string) AnnotationAssertion( "cross eye"^^xsd:string) AnnotationAssertion( "cross-eyes"^^xsd:string) AnnotationAssertion( "crossed eyes"^^xsd:string) AnnotationAssertion( "primary esotropias"^^xsd:string) AnnotationAssertion( "secondary esotropia"^^xsd:string) AnnotationAssertion( "secondary esotropias"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9840"^^xsd:string) AnnotationAssertion(rdfs:label "esotropia"^^xsd:string) SubClassOf( ) # Class: (hypotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:378.32"^^xsd:string) AnnotationAssertion( "NCI:C42086"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9841"^^xsd:string) AnnotationAssertion(rdfs:label "hypotropia"^^xsd:string) SubClassOf( ) # Class: (total circumpapillary dystrophy of choroid) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:363.52"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9842"^^xsd:string) AnnotationAssertion(rdfs:label "total circumpapillary dystrophy of choroid"^^xsd:string) SubClassOf( ) # Class: (monofixation syndrome) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.42"^^xsd:string) AnnotationAssertion( "ICD9CM:378.34"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9843"^^xsd:string) AnnotationAssertion(rdfs:label "monofixation syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripheral vertigo) AnnotationAssertion(Annotation( "https://medlineplus.gov/ency/article/001432.htm"^^xsd:string) "A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H81.399"^^xsd:string) AnnotationAssertion( "ICD9CM:386.19"^^xsd:string) AnnotationAssertion( "peripheral vertigos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9847"^^xsd:string) AnnotationAssertion(rdfs:label "peripheral vertigo"^^xsd:string) SubClassOf( ) # Class: (endolymphatic hydrops) AnnotationAssertion(Annotation( "MESH:D018159"^^xsd:string) "An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO."^^xsd:string) AnnotationAssertion( "EFO:1000918"^^xsd:string) AnnotationAssertion( "ICD10CM:H81.0"^^xsd:string) AnnotationAssertion( "MESH:D018159"^^xsd:string) AnnotationAssertion( "labyrinthine hydrops"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9848"^^xsd:string) AnnotationAssertion(rdfs:label "endolymphatic hydrops"^^xsd:string) SubClassOf( ) # Class: (Meniere's disease) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease"^^xsd:string) "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. (DO)"^^xsd:string) AnnotationAssertion( "MIM:156000"^^xsd:string) AnnotationAssertion( "EFO:0006862"^^xsd:string) AnnotationAssertion( "GARD:10340"^^xsd:string) AnnotationAssertion( "ICD9CM:386.0"^^xsd:string) AnnotationAssertion( "MESH:D008575"^^xsd:string) AnnotationAssertion( "NCI:C185243"^^xsd:string) AnnotationAssertion( "Aural Vertigo"^^xsd:string) AnnotationAssertion( "Meniere Syndrome"^^xsd:string) AnnotationAssertion( "Meniere disease"^^xsd:string) AnnotationAssertion( "Meniere's Syndrome"^^xsd:string) AnnotationAssertion( "Menieres Disease"^^xsd:string) AnnotationAssertion( "Menieres Syndrome"^^xsd:string) AnnotationAssertion( "Mnire's vertigo"^^xsd:string) AnnotationAssertion( "Ménière Disease"^^xsd:string) AnnotationAssertion( "Ménière diseases"^^xsd:string) AnnotationAssertion( "Ménière vertigo"^^xsd:string) AnnotationAssertion( "Ménière's Disease"^^xsd:string) AnnotationAssertion( "Ménière's Vertigo"^^xsd:string) AnnotationAssertion( "Ménière's diseases"^^xsd:string) AnnotationAssertion( "Ménière's vertigos"^^xsd:string) AnnotationAssertion( "Ménières Disease"^^xsd:string) AnnotationAssertion( "Ménières Vertigo"^^xsd:string) AnnotationAssertion( "auditory vertigo"^^xsd:string) AnnotationAssertion( "auditory vertigos"^^xsd:string) AnnotationAssertion( "otogenic vertigo"^^xsd:string) AnnotationAssertion( "otogenic vertigos"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9849"^^xsd:string) AnnotationAssertion(rdfs:label "Meniere's disease"^^xsd:string) SubClassOf( ) # Class: (lingual-facial-buccal dyskinesia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:G24.4"^^xsd:string) AnnotationAssertion( "ICD9CM:333.82"^^xsd:string) AnnotationAssertion( "lingual facial buccal dyskinesias"^^xsd:string) AnnotationAssertion( "oro-facial dyskinesia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9854"^^xsd:string) AnnotationAssertion(rdfs:label "lingual-facial-buccal dyskinesia"^^xsd:string) SubClassOf( ) # Class: (congenital syphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html"^^xsd:string) "A syphilis that results_in a multisystem infection in the fetus via the placenta. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007219"^^xsd:string) AnnotationAssertion( "ICD10CM:A50"^^xsd:string) AnnotationAssertion( "ICD9CM:090"^^xsd:string) AnnotationAssertion( "MESH:D013590"^^xsd:string) AnnotationAssertion( "NCI:C84649"^^xsd:string) AnnotationAssertion( "Hutchinson Teeth"^^xsd:string) AnnotationAssertion( "Hutchinson's Teeth"^^xsd:string) AnnotationAssertion( "Hutchinsons Teeth"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9856"^^xsd:string) AnnotationAssertion(rdfs:label "congenital syphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (interstitial keratitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Interstitial_keratitis"^^xsd:string) "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-20T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.30"^^xsd:string) AnnotationAssertion( "ICD9CM:370.50"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9857"^^xsd:string) AnnotationAssertion(rdfs:label "interstitial keratitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (deep keratitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.3"^^xsd:string) AnnotationAssertion( "ICD9CM:370.5"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9858"^^xsd:string) AnnotationAssertion(rdfs:label "deep keratitis"^^xsd:string) SubClassOf( ) # Class: (alopecia areata) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alopecia_areata"^^xsd:string) "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004192"^^xsd:string) AnnotationAssertion( "GARD:5782"^^xsd:string) AnnotationAssertion( "ICD10CM:L63"^^xsd:string) AnnotationAssertion( "ICD9CM:704.01"^^xsd:string) AnnotationAssertion( "MESH:D000506"^^xsd:string) AnnotationAssertion( "alopecia circumscripta"^^xsd:string) AnnotationAssertion( "circumscribed alopecia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:986"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia areata"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (miliary tuberculosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Disseminated_tuberculosis"^^xsd:string) "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007368"^^xsd:string) AnnotationAssertion( "ICD10CM:A19"^^xsd:string) AnnotationAssertion( "ICD9CM:018"^^xsd:string) AnnotationAssertion( "MESH:D014391"^^xsd:string) AnnotationAssertion( "NCI:C35086"^^xsd:string) AnnotationAssertion( "acute miliary tuberculosis"^^xsd:string) AnnotationAssertion( "disseminated tuberculosis"^^xsd:string) AnnotationAssertion( "generalized tuberculosis"^^xsd:string) AnnotationAssertion( "miliary tuberculoses"^^xsd:string) AnnotationAssertion( "tuberculosis miliaris disseminata"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9861"^^xsd:string) AnnotationAssertion(rdfs:label "miliary tuberculosis"^^xsd:string) SubClassOf( ) # Class: (toxic maculopathy) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H35.38"^^xsd:string) AnnotationAssertion( "ICD9CM:362.55"^^xsd:string) AnnotationAssertion( "Toxic maculopathy of retina"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9867"^^xsd:string) AnnotationAssertion(rdfs:label "toxic maculopathy"^^xsd:string) SubClassOf( ) # Class: (intestinal disaccharidase deficiency) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-23T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:1000060"^^xsd:string) AnnotationAssertion( "ICD9CM:271.3"^^xsd:string) AnnotationAssertion( "NCI:C34731"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9868"^^xsd:string) AnnotationAssertion(rdfs:label "intestinal disaccharidase deficiency"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hereditary fructose intolerance syndrome) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/20848650/"^^xsd:string) Annotation( "https://pubmed.ncbi.nlm.nih.gov/9610797/"^^xsd:string) "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.12"^^xsd:string) AnnotationAssertion( "ICD9CM:271.2"^^xsd:string) AnnotationAssertion( "MESH:D005633"^^xsd:string) AnnotationAssertion( "MIM:229600"^^xsd:string) AnnotationAssertion( "MONDO:0009249"^^xsd:string) AnnotationAssertion( "NCI:C84720"^^xsd:string) AnnotationAssertion( "ALDOB Deficiency"^^xsd:string) AnnotationAssertion( "ALDOB deficiencies"^^xsd:string) AnnotationAssertion( "ALDOB-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "Aldolase B Deficiency"^^xsd:string) AnnotationAssertion( "Fructose 1 Phosphate Aldolase Deficiency"^^xsd:string) AnnotationAssertion( "Fructose 1,6 Biphosphate Aldolase Deficiency"^^xsd:string) AnnotationAssertion( "Fructose Aldolase B Deficiency"^^xsd:string) AnnotationAssertion( "Fructose Intolerances"^^xsd:string) AnnotationAssertion( "Fructose-1,6-Bisphosphate Aldolase B Deficiency"^^xsd:string) AnnotationAssertion( "aldolase B deficiencies"^^xsd:string) AnnotationAssertion( "fructosaemia"^^xsd:string) AnnotationAssertion( "fructose intolerance"^^xsd:string) AnnotationAssertion( "fructose-1,6-biphosphate aldolase deficiencies"^^xsd:string) AnnotationAssertion( "fructose-1-phosphate aldolase deficiencies"^^xsd:string) AnnotationAssertion( "fructosemia"^^xsd:string) AnnotationAssertion( "fructosemias"^^xsd:string) AnnotationAssertion( "hereditary fructose intolerance"^^xsd:string) AnnotationAssertion( "hereditary fructose intolerances"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9869"^^xsd:string) AnnotationAssertion(rdfs:label "hereditary fructose intolerance syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alopecia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Alopecia"^^xsd:string) Annotation( "http://www.omim.org/entry/109200?search=109200&highlight=109200"^^xsd:string) "A hypotrichosis that is characterized by a loss of hair from the head or body. (DO)"^^xsd:string) AnnotationAssertion( "MIM:109200"^^xsd:string) AnnotationAssertion( "MIM:300042"^^xsd:string) AnnotationAssertion( "OMIA:000030"^^xsd:string) AnnotationAssertion( "OMIA:000031"^^xsd:string) AnnotationAssertion( "EFO:0003109"^^xsd:string) AnnotationAssertion( "ICD10CM:L65.9"^^xsd:string) AnnotationAssertion( "ICD9CM:704.0"^^xsd:string) AnnotationAssertion( "MESH:D000505"^^xsd:string) AnnotationAssertion( "MIM:PS203655"^^xsd:string) AnnotationAssertion( "MONDO:0004907"^^xsd:string) AnnotationAssertion( "NCI:C50575"^^xsd:string) AnnotationAssertion( "AGA1"^^xsd:string) AnnotationAssertion( "Baldness"^^xsd:string) AnnotationAssertion( "Female Pattern Baldness"^^xsd:string) AnnotationAssertion( "Hair Loss"^^xsd:string) AnnotationAssertion( "alopecia cicatrisata"^^xsd:string) AnnotationAssertion( "alopecia cicatrisatas"^^xsd:string) AnnotationAssertion( "androgenetic alopecia 1"^^xsd:string) AnnotationAssertion( "generic alopecia"^^xsd:string) AnnotationAssertion( "male pattern alopecia"^^xsd:string) AnnotationAssertion( "male pattern baldness"^^xsd:string) AnnotationAssertion( "pattern baldness"^^xsd:string) AnnotationAssertion( "pseudopelade"^^xsd:string) AnnotationAssertion( "AGA BALDNESS, MALE PATTERN"^^xsd:string) AnnotationAssertion( "ANDROGENETIC ALOPECIA"^^xsd:string) AnnotationAssertion( "Alopecia, color mutant"^^xsd:string) AnnotationAssertion( "MPB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:987"^^xsd:string) AnnotationAssertion(rdfs:label "alopecia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (galactosemia) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Galactosemia"^^xsd:string) "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (DO)"^^xsd:string) AnnotationAssertion( "GARD:2424"^^xsd:string) AnnotationAssertion( "ICD10CM:E74.21"^^xsd:string) AnnotationAssertion( "ICD9CM:271.1"^^xsd:string) AnnotationAssertion( "MESH:D005693"^^xsd:string) AnnotationAssertion( "MIM:PS230400"^^xsd:string) AnnotationAssertion( "NCI:C84723"^^xsd:string) AnnotationAssertion( "ORDO:352"^^xsd:string) AnnotationAssertion( "DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE"^^xsd:string) AnnotationAssertion( "UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency"^^xsd:string) AnnotationAssertion( "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease"^^xsd:string) AnnotationAssertion( "galactosaemia"^^xsd:string) AnnotationAssertion( "galactose intolerance"^^xsd:string) AnnotationAssertion( "galactosemias"^^xsd:string) AnnotationAssertion( "GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT"^^xsd:string) AnnotationAssertion( "Hereditary Galactokinase Deficiencies"^^xsd:string) AnnotationAssertion( "Hereditary Galactokinase Deficiency"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9870"^^xsd:string) AnnotationAssertion(rdfs:label "galactosemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (urethral gland abscess) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-10T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N34.0"^^xsd:string) AnnotationAssertion( "ICD9CM:597.0"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9877"^^xsd:string) AnnotationAssertion(rdfs:label "urethral gland abscess"^^xsd:string) SubClassOf( ) # Class: (mitral valve prolapse) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Mitral_valve_prolapse"^^xsd:string) Annotation( "http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html"^^xsd:string) Annotation( "https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract"^^xsd:string) "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D008945"^^xsd:string) AnnotationAssertion( "MIM:PS157700"^^xsd:string) AnnotationAssertion( "NCI:C50655"^^xsd:string) AnnotationAssertion( "Barlow syndrome"^^xsd:string) AnnotationAssertion( "Barlow's syndrome"^^xsd:string) AnnotationAssertion( "click murmur syndrome"^^xsd:string) AnnotationAssertion( "click-murmur syndromes"^^xsd:string) AnnotationAssertion( "floppy mitral valve"^^xsd:string) AnnotationAssertion( "floppy mitral valves"^^xsd:string) AnnotationAssertion( "mitral click murmur syndrome"^^xsd:string) AnnotationAssertion( "mitral valve prolapse syndrome"^^xsd:string) AnnotationAssertion( "mitral valve prolapses"^^xsd:string) AnnotationAssertion( "prolapsed mitral valve"^^xsd:string) AnnotationAssertion( "prolapsed mitral valves"^^xsd:string) AnnotationAssertion( "systolic click murmur syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "mitral leaflet syndrome"^^xsd:string) AnnotationAssertion( "myxomatous mitral valve prolapse"^^xsd:string) AnnotationAssertion( "DOID:988"^^xsd:string) AnnotationAssertion(rdfs:label "mitral valve prolapse"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (cardiovascular syphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001206"^^xsd:string) AnnotationAssertion( "ICD9CM:093.8"^^xsd:string) AnnotationAssertion( "MESH:D013589"^^xsd:string) AnnotationAssertion( "Syphilitic Aortitides"^^xsd:string) AnnotationAssertion( "Syphilitic Aortitis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9880"^^xsd:string) AnnotationAssertion(rdfs:label "cardiovascular syphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (Becker muscular dystrophy) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/19461958"^^xsd:string) Annotation( "https://www.omim.org/entry/300376"^^xsd:string) "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:9002338"^^xsd:string) AnnotationAssertion( "MESH:C570377"^^xsd:string) AnnotationAssertion( "EFO:0000103"^^xsd:string) AnnotationAssertion( "GARD:5900"^^xsd:string) AnnotationAssertion( "MIM:300376"^^xsd:string) AnnotationAssertion( "MONDO:0010311"^^xsd:string) AnnotationAssertion( "NCI:C84587"^^xsd:string) AnnotationAssertion( "ORDO:98895"^^xsd:string) AnnotationAssertion( "BMD"^^xsd:string) AnnotationAssertion( "Becker's muscular dystrophy"^^xsd:string) AnnotationAssertion( "benign congenital myopathy"^^xsd:string) AnnotationAssertion( "benign pseudohypertrophic muscular dystrophy"^^xsd:string) AnnotationAssertion( "muscular dystrophy, Becker type"^^xsd:string) AnnotationAssertion( "pseudohypertrophic progressive muscular dystrophy, Becker type"^^xsd:string) AnnotationAssertion( "atypical Becker muscular dystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9883"^^xsd:string) AnnotationAssertion(rdfs:label "Becker muscular dystrophy"^^xsd:string) SubClassOf( ) # Class: (muscular dystrophy) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Muscular_dystrophy"^^xsd:string) Annotation( "http://www.ninds.nih.gov/disorders/md/md.htm"^^xsd:string) "A myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0000757"^^xsd:string) AnnotationAssertion( "GARD:7922"^^xsd:string) AnnotationAssertion( "MESH:D009136"^^xsd:string) AnnotationAssertion( "MONDO:0020121"^^xsd:string) AnnotationAssertion( "NCI:C84910"^^xsd:string) AnnotationAssertion( "Myodystrophica"^^xsd:string) AnnotationAssertion( "muscular dystrophies"^^xsd:string) AnnotationAssertion( "myodystrophicas"^^xsd:string) AnnotationAssertion( "myodystrophies"^^xsd:string) AnnotationAssertion( "myodystrophy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9884"^^xsd:string) AnnotationAssertion(rdfs:label "muscular dystrophy"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (alternating esotropia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H50.05"^^xsd:string) AnnotationAssertion( "ICD9CM:378.05"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9888"^^xsd:string) AnnotationAssertion(rdfs:label "alternating esotropia"^^xsd:string) SubClassOf( ) # Class: (median arcuate ligament syndrome) AnnotationAssertion( "MIM:116870"^^xsd:string) AnnotationAssertion( "ICD10CM:I77.4"^^xsd:string) AnnotationAssertion( "ICD9CM:447.4"^^xsd:string) AnnotationAssertion( "MESH:D000074742"^^xsd:string) AnnotationAssertion( "Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm"^^xsd:string) AnnotationAssertion( "Celiac artery compression syndrome"^^xsd:string) AnnotationAssertion( "Harjola-Marable syndrome"^^xsd:string) AnnotationAssertion( "Marable's syndrome"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9892"^^xsd:string) AnnotationAssertion(rdfs:label "median arcuate ligament syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (periodontosis) AnnotationAssertion( "An obsolete diagnosis that has been replaced by periodontitis."^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:K05.4"^^xsd:string) AnnotationAssertion( "ICD9CM:523.5"^^xsd:string) AnnotationAssertion( "RDO:9002859"^^xsd:string) AnnotationAssertion( "periodontoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9893"^^xsd:string) AnnotationAssertion(rdfs:label "periodontosis"^^xsd:string) SubClassOf( ) # Class: (villonodular synovitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-06T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:M12.20"^^xsd:string) AnnotationAssertion( "ICD9CM:719.2"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9898"^^xsd:string) AnnotationAssertion(rdfs:label "villonodular synovitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (congenital heart block) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/22368629"^^xsd:string) "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. (DO)"^^xsd:string) AnnotationAssertion( "MIM:234700"^^xsd:string) AnnotationAssertion( "GARD:6164"^^xsd:string) AnnotationAssertion( "ICD10CM:Q24.6"^^xsd:string) AnnotationAssertion( "ICD9CM:746.86"^^xsd:string) AnnotationAssertion( "MESH:C535758"^^xsd:string) AnnotationAssertion( "Congenital complete heart block"^^xsd:string) AnnotationAssertion( "Familial congenital heart block"^^xsd:string) AnnotationAssertion( "Isolated Congenital Heart Block"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:990"^^xsd:string) AnnotationAssertion(rdfs:label "congenital heart block"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (meibomian cyst) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Chalazion"^^xsd:string) "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007363"^^xsd:string) AnnotationAssertion( "ICD10CM:H00.1"^^xsd:string) AnnotationAssertion( "ICD9CM:373.2"^^xsd:string) AnnotationAssertion( "MESH:D017043"^^xsd:string) AnnotationAssertion( "NCI:C26717"^^xsd:string) AnnotationAssertion( "chalazia"^^xsd:string) AnnotationAssertion( "chalazion"^^xsd:string) AnnotationAssertion( "meibomian gland lipogranuloma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9903"^^xsd:string) AnnotationAssertion(rdfs:label "meibomian cyst"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (follicular mucinosis) AnnotationAssertion(Annotation( "MESH:D000507"^^xsd:string) "A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis."^^xsd:string) AnnotationAssertion( "EFO:1000701"^^xsd:string) AnnotationAssertion( "ICD10CM:L65.2"^^xsd:string) AnnotationAssertion( "MESH:D000507"^^xsd:string) AnnotationAssertion( "MONDO:0006551"^^xsd:string) AnnotationAssertion( "NCI:C82859"^^xsd:string) AnnotationAssertion( "alopecia mucinosa"^^xsd:string) AnnotationAssertion( "alopecia mucinosis"^^xsd:string) AnnotationAssertion( "follicular mucinoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9905"^^xsd:string) AnnotationAssertion(rdfs:label "follicular mucinosis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (internal hordeolum) AnnotationAssertion( "ICD10CM:H00.02"^^xsd:string) AnnotationAssertion( "ICD9CM:373.12"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9908"^^xsd:string) AnnotationAssertion(rdfs:label "internal hordeolum"^^xsd:string) SubClassOf( ) # Class: (hordeolum) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hordeolum"^^xsd:string) "An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007315"^^xsd:string) AnnotationAssertion( "ICD10CM:H00.01"^^xsd:string) AnnotationAssertion( "MESH:D006726"^^xsd:string) AnnotationAssertion( "NCI:C118722"^^xsd:string) AnnotationAssertion( "boil of eyelid"^^xsd:string) AnnotationAssertion( "furuncle of eyelid"^^xsd:string) AnnotationAssertion( "stye"^^xsd:string) AnnotationAssertion( "styes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9909"^^xsd:string) AnnotationAssertion(rdfs:label "hordeolum"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (central corneal ulcer) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Corneal_ulcer"^^xsd:string) "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H16.01"^^xsd:string) AnnotationAssertion( "ICD9CM:370.03"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9910"^^xsd:string) AnnotationAssertion(rdfs:label "central corneal ulcer"^^xsd:string) SubClassOf( ) # Class: (infected hydrocele) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N43.1"^^xsd:string) AnnotationAssertion( "ICD9CM:603.1"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9911"^^xsd:string) AnnotationAssertion(rdfs:label "infected hydrocele"^^xsd:string) SubClassOf( ) # Class: (hydrocele) AnnotationAssertion(Annotation( "MESH:D006848"^^xsd:string) "Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM."^^xsd:string) AnnotationAssertion( "EFO:1001859"^^xsd:string) AnnotationAssertion( "MESH:D006848"^^xsd:string) AnnotationAssertion( "Scrotal Hydroceles"^^xsd:string) AnnotationAssertion( "Testicular Hydroceles"^^xsd:string) AnnotationAssertion( "scrotal hydrocele"^^xsd:string) AnnotationAssertion( "testicular hydrocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "Vaginal Hydrocele"^^xsd:string) AnnotationAssertion( "vaginal hydroceles"^^xsd:string) AnnotationAssertion( "DOID:9912"^^xsd:string) AnnotationAssertion(rdfs:label "hydrocele"^^xsd:string) SubClassOf( ) # Class: (Omsk hemorrhagic fever) AnnotationAssertion(Annotation( "http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm"^^xsd:string) Annotation( "http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php"^^xsd:string) Annotation( "http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf"^^xsd:string) "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. (DO)"^^xsd:string) AnnotationAssertion( "GARD:8254"^^xsd:string) AnnotationAssertion( "ICD10CM:A98.1"^^xsd:string) AnnotationAssertion( "ICD9CM:065.1"^^xsd:string) AnnotationAssertion( "MESH:D006481"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:992"^^xsd:string) AnnotationAssertion(rdfs:label "Omsk hemorrhagic fever"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (developmental coordination disorder) AnnotationAssertion(Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm"^^xsd:string) "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:F82"^^xsd:string) AnnotationAssertion( "ICD9CM:315.4"^^xsd:string) AnnotationAssertion( "MESH:D019957"^^xsd:string) AnnotationAssertion( "NCI:C92561"^^xsd:string) AnnotationAssertion( "developmental coordination disorders"^^xsd:string) AnnotationAssertion( "motor skills disorder"^^xsd:string) AnnotationAssertion( "motor skills disorders"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9923"^^xsd:string) AnnotationAssertion(rdfs:label "developmental coordination disorder"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (Waterhouse-Friderichsen syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome"^^xsd:string) Annotation( "http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse"^^xsd:string) "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007544"^^xsd:string) AnnotationAssertion( "GARD:9449"^^xsd:string) AnnotationAssertion( "MESH:D014884"^^xsd:string) AnnotationAssertion( "NCI:C85225"^^xsd:string) AnnotationAssertion( "WFS"^^xsd:string) AnnotationAssertion( "Waterhouse Friederichsen syndrome"^^xsd:string) AnnotationAssertion( "fulminant meningococcal sepsis with adrenal apoplexy"^^xsd:string) AnnotationAssertion( "meningococcal hemorrhagic adrenalitides"^^xsd:string) AnnotationAssertion( "meningococcal hemorrhagic adrenalitis"^^xsd:string) AnnotationAssertion( "meningococcal waterhouse Friderichsen syndrome"^^xsd:string) AnnotationAssertion( "purpura fulminans (Waterhouse-Friderichsen syndrome)"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9931"^^xsd:string) AnnotationAssertion(rdfs:label "Waterhouse-Friderichsen syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (chronic inflammation of lacrimal passage) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/6856241"^^xsd:string) "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.4"^^xsd:string) AnnotationAssertion( "ICD9CM:375.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9935"^^xsd:string) AnnotationAssertion(rdfs:label "chronic inflammation of lacrimal passage"^^xsd:string) SubClassOf( ) # Class: (chronic canaliculitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.42"^^xsd:string) AnnotationAssertion( "ICD9CM:375.41"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9936"^^xsd:string) AnnotationAssertion(rdfs:label "chronic canaliculitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (chronic dacryocystitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-24T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.41"^^xsd:string) AnnotationAssertion( "ICD9CM:375.42"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9937"^^xsd:string) AnnotationAssertion(rdfs:label "chronic dacryocystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dacryocystitis) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/"^^xsd:string) "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:H04.30"^^xsd:string) AnnotationAssertion( "ICD9CM:375.30"^^xsd:string) AnnotationAssertion( "MESH:D003607"^^xsd:string) AnnotationAssertion( "NCI:C34521"^^xsd:string) AnnotationAssertion( "dacryocystitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9938"^^xsd:string) AnnotationAssertion(rdfs:label "dacryocystitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (dacryocystocele) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-03T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:375.43"^^xsd:string) AnnotationAssertion( "NCI:C98968"^^xsd:string) AnnotationAssertion( "lacrimal mucocele"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9939"^^xsd:string) AnnotationAssertion(rdfs:label "dacryocystocele"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (lymph node disease) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35346"^^xsd:string) AnnotationAssertion( "RDO:9002657"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9942"^^xsd:string) AnnotationAssertion(rdfs:label "lymph node disease"^^xsd:string) SubClassOf( ) # Class: (constant exophthalmos) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-19T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:H05.24"^^xsd:string) AnnotationAssertion( "ICD9CM:376.31"^^xsd:string) AnnotationAssertion( "RDO:9002978"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9945"^^xsd:string) AnnotationAssertion(rdfs:label "constant exophthalmos"^^xsd:string) SubClassOf( ) # Class: (steroid-induced glaucoma) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/"^^xsd:string) "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.3"^^xsd:string) AnnotationAssertion( "corticosteroid-induced glaucoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9946"^^xsd:string) AnnotationAssertion(rdfs:label "steroid-induced glaucoma"^^xsd:string) SubClassOf( ) # Class: (residual stage corticosteroid-induced glaucoma) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-25T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD9CM:365.32"^^xsd:string) AnnotationAssertion( "RDO:9003545"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9948"^^xsd:string) AnnotationAssertion(rdfs:label "residual stage corticosteroid-induced glaucoma"^^xsd:string) SubClassOf( ) # Class: (acute lymphoblastic leukemia) AnnotationAssertion(Annotation( "http://www.cancer.gov/dictionary?CdrID=46332"^^xsd:string) "A acute leukemia that is characterized by over production of lymphoblasts. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "DOID:5600"^^xsd:string) AnnotationAssertion( "DOID:9006123"^^xsd:string) AnnotationAssertion( "EFO:0000219"^^xsd:string) AnnotationAssertion( "EFO:0000220"^^xsd:string) AnnotationAssertion( "EFO:0009119"^^xsd:string) AnnotationAssertion( "GARD:522"^^xsd:string) AnnotationAssertion( "ICD10CM:C91.00"^^xsd:string) AnnotationAssertion( "ICD9CM:204.0"^^xsd:string) AnnotationAssertion( "MESH:D054198"^^xsd:string) AnnotationAssertion( "MIM:613065"^^xsd:string) AnnotationAssertion( "MIM:613067"^^xsd:string) AnnotationAssertion( "MIM:615545"^^xsd:string) AnnotationAssertion( "MONDO:0004967"^^xsd:string) AnnotationAssertion( "NCI:C3167"^^xsd:string) AnnotationAssertion( "NCI:C7055"^^xsd:string) AnnotationAssertion( "ORDO:513"^^xsd:string) AnnotationAssertion( "ALL"^^xsd:string) AnnotationAssertion( "ALL2"^^xsd:string) AnnotationAssertion( "L1 Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "L2 Lymphocytic Leukemia"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, L1"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, L2"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, Philadelphia-positive"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, adult"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukaemia"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia, L1"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia, L2"^^xsd:string) AnnotationAssertion( "acute lymphoid leukemia"^^xsd:string) AnnotationAssertion( "lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "lymphoblastic leukemias"^^xsd:string) AnnotationAssertion( "precursor cell lymphoblastic leukemia-lymphoma"^^xsd:string) AnnotationAssertion( "precursor lymphoblastic lymphoma/leukemia"^^xsd:string) AnnotationAssertion( "ALL1"^^xsd:string) AnnotationAssertion( "ALL3"^^xsd:string) AnnotationAssertion( "LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, susceptibility to"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "acute lymphoblastic leukemia, susceptibility to, 3"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia, susceptibility to, 1"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia, susceptibility to, 2"^^xsd:string) AnnotationAssertion( "DOID:9952"^^xsd:string) AnnotationAssertion(rdfs:label "acute lymphoblastic leukemia"^^xsd:string) SubClassOf( ) # Class: (acute biphenotypic leukemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pubmed/29021517"^^xsd:string) "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (DO)"^^xsd:string) AnnotationAssertion( "MIM:159555"^^xsd:string) AnnotationAssertion( "EFO:1000828"^^xsd:string) AnnotationAssertion( "ICD10CM:C95.0"^^xsd:string) AnnotationAssertion( "ICDO:9805/3"^^xsd:string) AnnotationAssertion( "MESH:D015456"^^xsd:string) AnnotationAssertion( "NCI:C4673"^^xsd:string) AnnotationAssertion( "NCI:C82179"^^xsd:string) AnnotationAssertion( "B and T cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "B- and T-cell mixed leukemia"^^xsd:string) AnnotationAssertion( "Hybrid Acute Leukemia"^^xsd:string) AnnotationAssertion( "Leukemia, Lymphocytic, Acute, Mixed Cell"^^xsd:string) AnnotationAssertion( "Leukemia, Myeloid/Lymphoid"^^xsd:string) AnnotationAssertion( "MPAL"^^xsd:string) AnnotationAssertion( "acute B and T cell leukemia"^^xsd:string) AnnotationAssertion( "acute biphenotypic leukemias"^^xsd:string) AnnotationAssertion( "acute lymphocytic leukemia, B and T cell"^^xsd:string) AnnotationAssertion( "hybrid acute leukemias"^^xsd:string) AnnotationAssertion( "mixed lineage acute leukemias"^^xsd:string) AnnotationAssertion( "mixed phenotype acute leukemia"^^xsd:string) AnnotationAssertion( "mixed-cell leukemia"^^xsd:string) AnnotationAssertion( "mixed-cell leukemias"^^xsd:string) AnnotationAssertion( "mixed-lineage acute leukemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9953"^^xsd:string) AnnotationAssertion(rdfs:label "acute biphenotypic leukemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (null-cell leukemia) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-21T00:00:00Z"^^xsd:string) AnnotationAssertion( "null-cell acute lymphoblastic leukaemia"^^xsd:string) AnnotationAssertion( "null-cell acute lymphoblastic leukemia"^^xsd:string) AnnotationAssertion( "null-cell leukaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9954"^^xsd:string) AnnotationAssertion(rdfs:label "null-cell leukemia"^^xsd:string) SubClassOf( ) # Class: (hypoplastic left heart syndrome) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome"^^xsd:string) Annotation( "http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1"^^xsd:string) Annotation( "http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html"^^xsd:string) "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (DO)"^^xsd:string) AnnotationAssertion( "GARD:6739"^^xsd:string) AnnotationAssertion( "ICD10CM:Q23.4"^^xsd:string) AnnotationAssertion( "ICD9CM:746.7"^^xsd:string) AnnotationAssertion( "MESH:D018636"^^xsd:string) AnnotationAssertion( "MIM:PS241550"^^xsd:string) AnnotationAssertion( "NCI:C98894"^^xsd:string) AnnotationAssertion( "ORDO:2248"^^xsd:string) AnnotationAssertion( "HLHS"^^xsd:string) AnnotationAssertion( "left heart hypoplasia syndrome"^^xsd:string) AnnotationAssertion( "HAND1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9955"^^xsd:string) AnnotationAssertion(rdfs:label "hypoplastic left heart syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (periostitis) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Periostitis"^^xsd:string) "A connective tissue disease characterized by inflammation located_in the periosteum of the bone. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D010522"^^xsd:string) AnnotationAssertion( "periostitides"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9957"^^xsd:string) AnnotationAssertion(rdfs:label "periostitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hemometra) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hematometra"^^xsd:string) "A uterine disease that is characterized by the presence of blood in the uterine cavity. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1000962"^^xsd:string) AnnotationAssertion( "ICD10CM:N85.7"^^xsd:string) AnnotationAssertion( "ICD9CM:621.4"^^xsd:string) AnnotationAssertion( "MESH:D006409"^^xsd:string) AnnotationAssertion( "hematometra"^^xsd:string) AnnotationAssertion( "hematometras"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9958"^^xsd:string) AnnotationAssertion(rdfs:label "hemometra"^^xsd:string) SubClassOf( ) # Class: (toxoplasmosis) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Toxoplasmosis"^^xsd:string) "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0007517"^^xsd:string) AnnotationAssertion( "ICD10CM:B58"^^xsd:string) AnnotationAssertion( "ICD9CM:130"^^xsd:string) AnnotationAssertion( "MESH:D014123"^^xsd:string) AnnotationAssertion( "NCI:C3418"^^xsd:string) AnnotationAssertion( "Toxoplasma gondii infection"^^xsd:string) AnnotationAssertion( "Toxoplasma gondii infections"^^xsd:string) AnnotationAssertion( "disseminated toxoplasmosis"^^xsd:string) AnnotationAssertion( "toxoplasmoses"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9965"^^xsd:string) AnnotationAssertion(rdfs:label "toxoplasmosis"^^xsd:string) SubClassOf( ) # Class: (carotenemia) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/books/NBK534878/"^^xsd:string) "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-27T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:E67.1"^^xsd:string) AnnotationAssertion( "ICD9CM:278.3"^^xsd:string) AnnotationAssertion( "NCI:C26963"^^xsd:string) AnnotationAssertion( "hypercarotinemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9969"^^xsd:string) AnnotationAssertion(rdfs:label "carotenemia"^^xsd:string) SubClassOf( ) # Class: (uterine inversion) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Uterine_inversion"^^xsd:string) "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001446"^^xsd:string) AnnotationAssertion( "ICD10CM:N85.5"^^xsd:string) AnnotationAssertion( "ICD9CM:665.2"^^xsd:string) AnnotationAssertion( "MESH:D019687"^^xsd:string) AnnotationAssertion( "inversion of uterus"^^xsd:string) AnnotationAssertion( "uterus inversion"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:997"^^xsd:string) AnnotationAssertion(rdfs:label "uterine inversion"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (obesity) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Obesity"^^xsd:string) "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO)"^^xsd:string) AnnotationAssertion( "MESH:D000079262"^^xsd:string) AnnotationAssertion( "MIM:601665"^^xsd:string) AnnotationAssertion( "EFO:0001073"^^xsd:string) AnnotationAssertion( "ICD10CM:E66.9"^^xsd:string) AnnotationAssertion( "ICD9CM:278.00"^^xsd:string) AnnotationAssertion( "MESH:D009765"^^xsd:string) AnnotationAssertion( "NCI:C159658"^^xsd:string) AnnotationAssertion( "NCI:C3283"^^xsd:string) AnnotationAssertion( "ADCY3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "MONOGENIC NON-SYNDROMIC OBESITY"^^xsd:string) AnnotationAssertion( "MONOGENIC OBESITY"^^xsd:string) AnnotationAssertion( "Maternal Obesity"^^xsd:string) AnnotationAssertion( "NR0B2-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY"^^xsd:string) AnnotationAssertion( "OBESITY DUE TO SIM1 DEFICIENCY"^^xsd:string) AnnotationAssertion( "OBESITY, MILD, EARLY-ONSET"^^xsd:string) AnnotationAssertion( "Obesity, Late-Onset"^^xsd:string) AnnotationAssertion( "Obesity, autosomal dominant"^^xsd:string) AnnotationAssertion( "SIM1-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "UCP3-RELATED CONDITION"^^xsd:string) AnnotationAssertion( "severe obesity and type II diabetes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "LEANNESS"^^xsd:string) AnnotationAssertion( "MELANOCORTIN 4 RECEPTOR POLYMORPHISM"^^xsd:string) AnnotationAssertion( "OBESITY, AGE AT ONSET OF"^^xsd:string) AnnotationAssertion( "OBESITY, ASSOCIATION WITH"^^xsd:string) AnnotationAssertion( "OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "OBESITY, RESISTANCE TO"^^xsd:string) AnnotationAssertion( "OBESITY, SUSCEPTIBILITY TO"^^xsd:string) AnnotationAssertion( "UCP3 polymorphism G/A"^^xsd:string) AnnotationAssertion( "obesity, variation in"^^xsd:string) AnnotationAssertion( "DOID:9970"^^xsd:string) AnnotationAssertion(rdfs:label "obesity"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypervitaminosis D) AnnotationAssertion(Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/"^^xsd:string) "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E67.3"^^xsd:string) AnnotationAssertion( "ICD9CM:278.4"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9971"^^xsd:string) AnnotationAssertion(rdfs:label "hypervitaminosis D"^^xsd:string) SubClassOf( ) # Class: (hypervitaminosis A) AnnotationAssertion(Annotation( "https://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005"^^xsd:string) Annotation( "https://medlineplus.gov/ency/article/000350.htm"^^xsd:string) "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. (DO)"^^xsd:string) AnnotationAssertion( "MIM:240150"^^xsd:string) AnnotationAssertion( "EFO:1000978"^^xsd:string) AnnotationAssertion( "ICD10CM:E67.0"^^xsd:string) AnnotationAssertion( "ICD9CM:278.2"^^xsd:string) AnnotationAssertion( "MESH:D006986"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9972"^^xsd:string) AnnotationAssertion(rdfs:label "hypervitaminosis A"^^xsd:string) SubClassOf( ) # Class: (substance dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Drug_dependence"^^xsd:string) "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C35458"^^xsd:string) AnnotationAssertion( "substance addiction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9973"^^xsd:string) AnnotationAssertion(rdfs:label "substance dependence"^^xsd:string) SubClassOf( ) # Class: (drug dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Drug_dependence"^^xsd:string) "A substance dependence that involves the continued use of drugs despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "drug abuse"^^xsd:string) AnnotationAssertion( "drug use disorder"^^xsd:string) AnnotationAssertion( "drug use disorders"^^xsd:string) AnnotationAssertion( "EFO:0003890"^^xsd:string) AnnotationAssertion( "ICD9CM:304.60"^^xsd:string) AnnotationAssertion( "RDO:9002645"^^xsd:string) AnnotationAssertion( "drug addiction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "drug addiction, susceptibility to"^^xsd:string) AnnotationAssertion( "drug habituation"^^xsd:string) AnnotationAssertion( "DOID:9974"^^xsd:string) AnnotationAssertion(rdfs:label "drug dependence"^^xsd:string) SubClassOf( ) # Class: (cocaine dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Cocaine_dependence"^^xsd:string) "A drug dependence that is a psychological dependency on the regular use of cocaine. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-18T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002610"^^xsd:string) AnnotationAssertion( "ICD10CM:F14.2"^^xsd:string) AnnotationAssertion( "ICD9CM:304.2"^^xsd:string) AnnotationAssertion( "NCI:C34492"^^xsd:string) AnnotationAssertion( "cocaine addiction"^^xsd:string) AnnotationAssertion( "cocaine dependences"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9975"^^xsd:string) AnnotationAssertion(rdfs:label "cocaine dependence"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (heroin dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Opioid_dependence"^^xsd:string) "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "EFO:0004240"^^xsd:string) AnnotationAssertion( "MESH:D006556"^^xsd:string) AnnotationAssertion( "NCI:C34694"^^xsd:string) AnnotationAssertion( "heroin abuse"^^xsd:string) AnnotationAssertion( "heroin addiction"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9976"^^xsd:string) AnnotationAssertion(rdfs:label "heroin dependence"^^xsd:string) SubClassOf( ) # Class: (hallucinogen dependence) AnnotationAssertion(Annotation( "http://en.wikipedia.org/wiki/Hallucinogenic_drugs"^^xsd:string) "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-17T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:F16.2"^^xsd:string) AnnotationAssertion( "ICD9CM:304.5"^^xsd:string) AnnotationAssertion( "NCI:C34657"^^xsd:string) AnnotationAssertion( "RDO:9002646"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9977"^^xsd:string) AnnotationAssertion(rdfs:label "hallucinogen dependence"^^xsd:string) SubClassOf( ) # Class: (acute female pelvic peritonitis) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-28T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:N73.3"^^xsd:string) AnnotationAssertion( "ICD9CM:614.5"^^xsd:string) AnnotationAssertion( "RDO:9002315"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9978"^^xsd:string) AnnotationAssertion(rdfs:label "acute female pelvic peritonitis"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (eosinophilia-myalgia syndrome) AnnotationAssertion(Annotation( "https://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/"^^xsd:string) Annotation( "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/"^^xsd:string) "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. (DO)"^^xsd:string) AnnotationAssertion( "EFO:1001316"^^xsd:string) AnnotationAssertion( "GARD:6345"^^xsd:string) AnnotationAssertion( "ICD9CM:710.5"^^xsd:string) AnnotationAssertion( "MESH:D016603"^^xsd:string) AnnotationAssertion( "L-Tryptophan-Related Eosinophilia-Myalgia Syndrome"^^xsd:string) AnnotationAssertion( "L-Tryptophan-Related Eosinophilia-Myalgia Syndromes"^^xsd:string) AnnotationAssertion( "eosinophilia-myalgia syndromes"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:998"^^xsd:string) AnnotationAssertion(rdfs:label "eosinophilia-myalgia syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbit lymphoma) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Orbital_lymphoma"^^xsd:string) "An orbital cancer that has_material_basis_in some lymphocyte. (DO)"^^xsd:string) AnnotationAssertion( "GARD:9719"^^xsd:string) AnnotationAssertion( "MESH:C537131"^^xsd:string) AnnotationAssertion( "NCI:C6244"^^xsd:string) AnnotationAssertion( "lymphoma of the orbit"^^xsd:string) AnnotationAssertion( "orbital lymphoma"^^xsd:string) AnnotationAssertion( "primary orbital lymphoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9986"^^xsd:string) AnnotationAssertion(rdfs:label "orbit lymphoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (orbit sarcoma) AnnotationAssertion(Annotation( "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095"^^xsd:string) "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-11-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "NCI:C6095"^^xsd:string) AnnotationAssertion( "orbital sarcoma"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9987"^^xsd:string) AnnotationAssertion(rdfs:label "orbit sarcoma"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (tertiary neurosyphilis) AnnotationAssertion(Annotation( "http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh"^^xsd:string) Annotation( "http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm"^^xsd:string) "A tertiary syphilis that results in infection located in brain or located in spinal cord. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-10-02T00:00:00Z"^^xsd:string) AnnotationAssertion( "ICD10CM:A52.3"^^xsd:string) AnnotationAssertion( "ICD9CM:094"^^xsd:string) AnnotationAssertion( "NCI:C84935"^^xsd:string) AnnotationAssertion( "RDO:9002430"^^xsd:string) AnnotationAssertion( "late neurosyphilis"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9988"^^xsd:string) AnnotationAssertion(rdfs:label "tertiary neurosyphilis"^^xsd:string) SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (hypereosinophilic syndrome) AnnotationAssertion(Annotation( "https://en.wikipedia.org/wiki/Hypereosinophilic_syndrome"^^xsd:string) Annotation( "https://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854"^^xsd:string) "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. (DO)"^^xsd:string) AnnotationAssertion( "MIM:607685"^^xsd:string) AnnotationAssertion( "EFO:1001467"^^xsd:string) AnnotationAssertion( "GARD:2804"^^xsd:string) AnnotationAssertion( "ICD10CM:D72.1"^^xsd:string) AnnotationAssertion( "ICD9CM:288.3"^^xsd:string) AnnotationAssertion( "MESH:D017681"^^xsd:string) AnnotationAssertion( "ORDO:168956"^^xsd:string) AnnotationAssertion( "Eosinophilic Leukemia"^^xsd:string) AnnotationAssertion( "Eosinophilic Leukemias"^^xsd:string) AnnotationAssertion( "HES"^^xsd:string) AnnotationAssertion( "Hypereosinophilic Syndromes"^^xsd:string) AnnotationAssertion( "Idiopathic Hypereosinophilic Syndrome"^^xsd:string) AnnotationAssertion( "Idiopathic Hypereosinophilic Syndromes"^^xsd:string) AnnotationAssertion( "Loeffler Endocarditis"^^xsd:string) AnnotationAssertion( "Loeffler's Endocarditis"^^xsd:string) AnnotationAssertion( "Loefflers endocarditis"^^xsd:string) AnnotationAssertion( "eosinophilic leukocytosis"^^xsd:string) AnnotationAssertion( "HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:999"^^xsd:string) AnnotationAssertion(rdfs:label "hypereosinophilic syndrome"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (hypoglycemia) AnnotationAssertion(Annotation( "https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia"^^xsd:string) "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. (DO)"^^xsd:string) AnnotationAssertion( "ICD10CM:E16.2"^^xsd:string) AnnotationAssertion( "ICD9CM:251.2"^^xsd:string) AnnotationAssertion( "MESH:D007003"^^xsd:string) AnnotationAssertion( "NCI:C3126"^^xsd:string) AnnotationAssertion( "Fasting Hypoglycemia"^^xsd:string) AnnotationAssertion( "Postabsorptive Hypoglycemia"^^xsd:string) AnnotationAssertion( "Postprandial Hypoglycemia"^^xsd:string) AnnotationAssertion( "Reactive Hypoglycemia"^^xsd:string) AnnotationAssertion( "hypoglycaemia"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "DOID:9993"^^xsd:string) AnnotationAssertion(rdfs:label "hypoglycemia"^^xsd:string) SubClassOf( ) SubClassOf( ) # Class: (peripartum cardiomyopathy) AnnotationAssertion(Annotation( "https://pubmed.ncbi.nlm.nih.gov/30575651/"^^xsd:string) Annotation( "https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy"^^xsd:string) "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. (DO)"^^xsd:string) AnnotationAssertion( "rgd"^^xsd:string) AnnotationAssertion( "2017-09-05T00:00:00Z"^^xsd:string) AnnotationAssertion( "EFO:0002628"^^xsd:string) AnnotationAssertion( "GARD:220"^^xsd:string) AnnotationAssertion( "ICD10CM:O90.3"^^xsd:string) AnnotationAssertion( "ICD9CM:674.5"^^xsd:string) AnnotationAssertion( "MIM:614670"^^xsd:string) AnnotationAssertion( "NCI:C171602"^^xsd:string) AnnotationAssertion( "ORDO:563"^^xsd:string) AnnotationAssertion( "antepartum peripartum cardiomyopathy"^^xsd:string) AnnotationAssertion( "postpartum peripartum cardiomyopathy"^^xsd:string) AnnotationAssertion( "rgd_disease_ontology"^^xsd:string) AnnotationAssertion( "peripartum cardiomyopathy, susceptibility to"^^xsd:string) AnnotationAssertion( "DOID:9997"^^xsd:string) AnnotationAssertion(rdfs:label "peripartum cardiomyopathy"^^xsd:string) SubClassOf( ) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: () AnnotationAssertion( ) AnnotationAssertion( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) )